Thumbprint | Database ID | SNP | Description | Uniprot Annotation |
| O15438 | R1381S | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | R1381S | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 2;AltName: Full=ATP-binding cassette sub-family C member 3;AltName: Full=Multidrug resistance-associated protein 3;AltName: Full=Multi |
| O15438 | Q1365R | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | Q1365R | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | Q1365R | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 2;AltName: Full=ATP-binding cassette sub-family C member 3;AltName: Full=Multidrug resistance-associated protein 3;AltName: Full=Multi |
| O15438 | R1297H | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | R1297H | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | R1297H | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 2;AltName: Full=ATP-binding cassette sub-family C member 3;AltName: Full=Multidrug resistance-associated protein 3;AltName: Full=Multi |
| O15438 | R1348C | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | R1348C | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15438 | R1348C | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 2;AltName: Full=ATP-binding cassette sub-family C member 3;AltName: Full=Multidrug resistance-associated protein 3;AltName: Full=Multi |
| O15438 | R1381S | Swiss-Prot annotated as Polymorphism | O15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3) |
| O15439 | G487E | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_I18L_P78A_C171G_M184T_G187W_K293E_K304N_T356M_P403L_G487E_K498E_I625M_P667L_M744V_E757K_R820I_V854F_V860M_V900L_C956S_V1071I_T1142M_R1220Q_Q1314R MULTIDRUG RESISTANCE-AS |
| O15439 | G487E | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 4;AltName: Full=ATP-binding cassette sub-family C member 4;AltName: Full=MRP/cMOAT-related ABC transporter;AltName: Full=Multi-specific organic an |
| O15439 | G487E | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B) |
| O15439 | K498E | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_I18L_P78A_C171G_M184T_G187W_K293E_K304N_T356M_P403L_G487E_K498E_I625M_P667L_M744V_E757K_R820I_V854F_V860M_V900L_C956S_V1071I_T1142M_R1220Q_Q1314R MULTIDRUG RESISTANCE-AS |
| O15439 | K498E | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 4;AltName: Full=ATP-binding cassette sub-family C member 4;AltName: Full=MRP/cMOAT-related ABC transporter;AltName: Full=Multi-specific organic an |
| O15439 | K498E | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B) |
| O15439 | T1142M | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_I18L_P78A_C171G_M184T_G187W_K293E_K304N_T356M_P403L_G487E_K498E_I625M_P667L_M744V_E757K_R820I_V854F_V860M_V900L_C956S_V1071I_T1142M_R1220Q_Q1314R MULTIDRUG RESISTANCE-AS |
| O15439 | T1142M | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 4;AltName: Full=ATP-binding cassette sub-family C member 4;AltName: Full=MRP/cMOAT-related ABC transporter;AltName: Full=Multi-specific organic an |
| O15439 | T1142M | Swiss-Prot annotated as Polymorphism | O15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B) |
| O60706 | A1513T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 9;AltName: Full=Sulfonylurea receptor 2; |
| O94911 | C680G | Swiss-Prot annotated as Polymorphism | O94911_chr17:67461352-67548507_F499 KIAA0822 PROTEIN |
| O94911 | Y489F | Swiss-Prot annotated as Polymorphism | KIAA0822 protein (Fragment) |
| O94911 | Y489F | Swiss-Prot annotated as Polymorphism | O94911_chr17:67461352-67548507_G341S_Y499F KIAA0822 PROTEIN |
| O94911 | Y489F | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 8; |
| O94911 | Y489F | Swiss-Prot annotated as Polymorphism | Hypothetical protein KIAA0822 |
| O94911 | Y489F | Swiss-Prot annotated as Polymorphism | O94911_chr17:67461352-67548507_F499 KIAA0822 PROTEIN |
| O94911 | C680G | Swiss-Prot annotated as Polymorphism | KIAA0822 protein (Fragment) |
| O94911 | C680G | Swiss-Prot annotated as Polymorphism | O94911_chr17:67461352-67548507_G341S_Y499F KIAA0822 PROTEIN |
| O94911 | C680G | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 8; |
| O94911 | C680G | Swiss-Prot annotated as Polymorphism | Hypothetical protein KIAA0822 |
| O95255 | L673P | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | V1298F | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | L673P | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | V1298F | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | I1424T | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | T1301I | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | I1424T | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | T1301I | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | R765Q | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | R765Q | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | A1303P | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | R1339C | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | A1303P | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | R1339C | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | D1361N | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | R1314W | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | D1361N | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | R1314W | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | R1314Q | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | G1302R | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | R1314Q | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | G1302R | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | G1321S | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | G1321S | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | Q1347H | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | G1354R | Swiss-Prot annotated as Disease | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | Q1347H | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | G1354R | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | H632Q | Swiss-Prot annotated as Polymorphism | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | H632Q | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95255 | R1268Q | Swiss-Prot annotated as Polymorphism | O95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN) |
| O95255 | R1268Q | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 6;AltName: Full=ATP-binding cassette sub-family C member 6;AltName: Full=Anthracycline resistance-associated protein;AltName: Full=Multi-specific |
| O95342 | R1153C | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | R1128H | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1128H | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1128H | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | K461E | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | K461E | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | K461E | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | R432T | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R432T | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R432T | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | D482G | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1268Q | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | D482G | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1268Q | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | D482G | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | R1268Q | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | A570T | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1153C | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | A570T | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R1153C | Swiss-Prot annotated as Disease | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | A570T | Swiss-Prot annotated as Disease | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | V444A | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | V444A | Swiss-Prot annotated as Polymorphism | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | T619A | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | T619A | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | T619A | Swiss-Prot annotated as Polymorphism | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | R616G | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R616G | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | E1186K | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | R616G | Swiss-Prot annotated as Polymorphism | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | E1186K | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_S56L_I206V_E297G_R299K_V444A_Q558H_N591S_E592Q_M677V_E1186K BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95342 | E1186K | Swiss-Prot annotated as Polymorphism | RecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11; |
| O95342 | V444A | Swiss-Prot annotated as Polymorphism | O95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11) |
| O95477 | D917Y | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | D917Y | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | D917Y | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | D1099Y | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | D1099Y | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | T929I | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | D1099Y | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | T929I | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | A937V | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | T929I | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | A937V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | R2081W | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | A937V | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | R2081W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | A2109T | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | R2081W | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | A2109T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | N935S | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | A2109T | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | N935S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | A1046D | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | N935S | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | A1046D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | M1091T | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_R219K_M415L_V771M_V825I_D831N_I883M_E1005K_T1555I_R1587K_P1648L ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSE |
| O95477 | A1046D | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| O95477 | M1091T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 1;AltName: Full=ATP-binding cassette transporter 1;Short=ATP-binding cassette 1;Short=ABC-1;AltName: Full=Cholesterol efflux regulatory protein; |
| O95477 | M1091T | Swiss-Prot annotated as Disease | O95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) ( |
| P08183 | V1251I | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | P1051A | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | V1251I | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | E566K | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | S400N | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | E566K | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | S400N | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | E566K | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | S400N | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | S1141T | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | S1141T | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | S1141T | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | R593C | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | R593C | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | R593C | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | Q1107P | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | Q1107P | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P08183 | Q1107P | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | P1051A | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | V1251I | Swiss-Prot annotated as Polymorphism | P08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1) |
| P08183 | P1051A | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 1;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 1;AltName: Full=P-glycoprotein 1;AltName: CD_antigen=CD243; |
| P13569 | V520F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | R560S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I601F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G1249E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Y563N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S1251N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L571S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G544V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | A613T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S549N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | N1303H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D579G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | T665S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Q1291R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I1234V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | E504Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V520F | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R560S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | I601F | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G1249E | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Y563N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S1251N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L571S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G544V | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | A613T | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S549N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | N1303H | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D579G | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | T665S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Q1291R | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | I1234V | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | E504Q | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V520F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R560S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I601F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G1249E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Y563N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S1251N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L571S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G544V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | A613T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S549N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | N1303H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D579G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | T665S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Q1291R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I1234V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | E504Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R560K | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G1244E | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | W1282R | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S1235R | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L558S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G480C | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | A559T | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Y569H | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S549I | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L633P | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D572N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Q1291H | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | H620Q | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D651N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R560K | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G1244E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | W1282R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S1235R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L558S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G480C | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | A559T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Y569H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S549I | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L633P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D572N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Q1291H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | H620Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D651N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G1244E | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | W1282R | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S1235R | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L558S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G480C | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | A559T | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Y569H | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S549I | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L633P | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D572N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Q1291H | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | H620Q | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D651N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R560K | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G1244E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | W1282R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S1235R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L558S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G480C | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | A559T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Y569H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S549I | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L633P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D572N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Q1291H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | H620Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D651N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R560K | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V562L | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G458V | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | A455E | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Y569D | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S492F | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L619S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G551S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D513G | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | P574H | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | H620P | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D648V | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | V456F | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R553Q | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | V562L | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G458V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | A455E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Y569D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S492F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L619S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G551S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D513G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | P574H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | H620P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D648V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V456F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | R553Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V562L | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G458V | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | A455E | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Y569D | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S492F | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L619S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G551S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D513G | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | P574H | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | H620P | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D648V | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V456F | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R553Q | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V562L | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G458V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | A455E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Y569D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S492F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L619S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G551S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D513G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | P574H | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | H620P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D648V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V456F | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R553Q | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R560T | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I618T | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G1349D | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | A1364V | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Y569C | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S1255P | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L610S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G551D | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D1270N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S549R | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | N1303K | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G628R | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D614G | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | V1397E | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R1283M | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | F1286S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R560T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I618T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G1349D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | A1364V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | Y569C | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S1255P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L610S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G551D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D1270N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S549R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | N1303K | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G628R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | D614G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V1397E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | R1283M | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | F1286S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | R560T | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | I618T | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G1349D | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | A1364V | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | Y569C | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S1255P | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L610S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G551D | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D1270N | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S549R | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | N1303K | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G628R | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | D614G | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V1397E | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R1283M | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | F1286S | Swiss-Prot annotated as Disease | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R560T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I618T | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G1349D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | A1364V | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | Y569C | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S1255P | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L610S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G551D | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D1270N | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S549R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | N1303K | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G628R | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | D614G | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V1397E | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R1283M | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | F1286S | Swiss-Prot annotated as Disease | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V520F | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R560S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I601F | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G1249E | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Y563N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S1251N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L571S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G544V | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | A613T | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S549N | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | N1303H | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | D579G | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | T665S | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | Q1291R | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I1234V | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | E504Q | Swiss-Prot annotated as Disease | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | V470M | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I507V | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | G576A | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | T1220I | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I507V | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G576A | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | T1220I | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V470M | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I507V | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G576A | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | T1220I | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V470M | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G576A | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | T1220I | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V470M | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I507V | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | R668C | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | L467F | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | S654G | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I506V | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | F508C | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | R668C | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | L467F | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | S654G | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I506V | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | F508C | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | R668C | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | L467F | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | S654G | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | I506V | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | F508C | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | R668C | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | L467F | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | S654G | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I506V | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | F508C | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | V562I | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | I506M | Swiss-Prot annotated as Polymorphism | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P13569 | V562I | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | I506M | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | V562I | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | I506M | Swiss-Prot annotated as Polymorphism | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | V562I | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | I506M | Swiss-Prot annotated as Polymorphism | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G622D | Swiss-Prot annotated as Unclassified | P13569_chr7:116674652-116861662_V11I_R31C_D44V_R75Q_L138P_R170H_S182G_V322M_T351S_Q353H_N417K_F433L_L467F_M470V_I506M_I507V_F508C_V562I_G576A_S605F_S654G_R668C_F693L_I807M_Y903H_S909I_L967S_L997F_I102 |
| P13569 | G622D | Swiss-Prot annotated as Unclassified | Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7) |
| P13569 | G622D | Swiss-Prot annotated as Unclassified | P13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL) |
| P13569 | G622D | Swiss-Prot annotated as Unclassified | RecName: Full=Cystic fibrosis transmembrane conductance regulator;Short=CFTR;AltName: Full=cAMP-dependent chloride channel;AltName: Full=ATP-binding cassette transporter sub-family C member 7; |
| P21439 | A546D | Swiss-Prot annotated as Disease | P21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | A546D | Swiss-Prot annotated as Disease | Multidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3) |
| P21439 | A546D | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance protein 3;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 4;AltName: Full=P-glycoprotein 3; |
| P21439 | P1168S | Swiss-Prot annotated as Disease | P21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | P1168S | Swiss-Prot annotated as Disease | P21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | P1168S | Swiss-Prot annotated as Disease | Multidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3) |
| P21439 | P1168S | Swiss-Prot annotated as Disease | RecName: Full=Multidrug resistance protein 3;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 4;AltName: Full=P-glycoprotein 3; |
| P21439 | A546D | Swiss-Prot annotated as Disease | P21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | R590Q | Swiss-Prot annotated as Polymorphism | P21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | R590Q | Swiss-Prot annotated as Polymorphism | P21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | R590Q | Swiss-Prot annotated as Polymorphism | Multidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3) |
| P21439 | R590Q | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 3;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 4;AltName: Full=P-glycoprotein 3; |
| P21439 | E528D | Swiss-Prot annotated as Polymorphism | P21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | E528D | Swiss-Prot annotated as Polymorphism | P21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3) |
| P21439 | E528D | Swiss-Prot annotated as Polymorphism | Multidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3) |
| P21439 | E528D | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance protein 3;EC=3.6.3.44;AltName: Full=ATP-binding cassette sub-family B member 4;AltName: Full=P-glycoprotein 3; |
| P33897 | S552P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | E630G | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | V635M | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | L503P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P560S | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R591W | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | A626D | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S515F | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | E609K | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | T668I | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | H667D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P560R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R591Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | A616V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | E609K | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | T668I | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | H667D | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P560R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R591Q | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | A616V | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S515F | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | T632I | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | G608D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P560L | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R591P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S514R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | E609G | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | T632I | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | G608D | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P560L | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R591P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S514R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | E609G | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S636I | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | G529S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P543L | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R554H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R660W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | D638Y | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S636I | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | G529S | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P543L | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R554H | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R660W | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | D638Y | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S633R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | G522W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P534L | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R518W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R660P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | D629H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S633R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | G522W | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P534L | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R518W | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R660P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | D629H | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S633I | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | G512S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P484R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R518Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R617H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | C631Y | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S633I | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | G512S | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | P484R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R518Q | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R617H | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | C631Y | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S606P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | G507V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | M566K | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | Q556R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R617G | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | A646P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S606P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | G507V | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | M566K | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | Q556R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R617G | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | A646P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S606L | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | F540S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | W679R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | L654P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | Q544R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R617C | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | A626T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | S606L | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | F540S | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | W679R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | L654P | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | Q544R | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | R617C | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | A626T | Swiss-Prot annotated as Disease | ATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP) |
| P33897 | S552P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | E630G | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | V635M | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | L503P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | P560S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | R591W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P33897 | A626D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP; |
| P78363 | L1970F | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1055W | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2038W | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E1087K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T959I | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | Y2071F | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | Q957R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2030Q | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E1087D | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2149L | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G1977S | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | T1112N | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L1014R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | Y2071F | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | Q957R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2030Q | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E1087D | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2149L | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G1977S | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T1112N | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | L1014R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | V989A | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1129L | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E1036K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2139W | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G1975R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | T1019M | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | K2160R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | V989A | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1129L | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E1036K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2139W | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G1975R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T1019M | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | K2160R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | V935A | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | N965S | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1129C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E1022K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2107H | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G1961E | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | T1019A | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | K1031E | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | V935A | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | N965S | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1129C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E1022K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2107H | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G1961E | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T1019A | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | K1031E | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | V2050L | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L2060R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1108L | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | C2150Y | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2107C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G1091E | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | S974P | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | H2128R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | V2050L | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | L2060R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1108L | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | C2150Y | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2107C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G1091E | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | S974P | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | H2128R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | V1072A | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L2035P | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1108H | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | C2150R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2106C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E2131K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | S1071L | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G991R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | V1072A | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | L2035P | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1108H | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | C2150R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2106C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E2131K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | S1071L | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G991R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T972N | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L2027F | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1108C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | A1038V | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2077W | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E2096K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | S1063P | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G978C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | T972N | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | L2027F | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1108C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | A1038V | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2077W | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E2096K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | S1063P | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G978C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T971N | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L1971R | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1097C | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2077G | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E1122K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R943W | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G2146D | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | T971N | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | L1971R | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R1097C | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R2077G | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | E1122K | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R943W | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G2146D | Swiss-Prot annotated as Disease | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | T959I | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | L1970F | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R1055W | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R2038W | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | E1087K | Swiss-Prot annotated as Disease | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | R943Q | Swiss-Prot annotated as Polymorphism | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | G2059A | Swiss-Prot annotated as Polymorphism | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | P1948L | Swiss-Prot annotated as Polymorphism | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | P1948L | Swiss-Prot annotated as Polymorphism | RecName: Full=Retinal-specific ATP-binding cassette transporter;AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter;Short=RIM protein;Short=RmP;AltName: Full=Sta |
| P78363 | R943Q | Swiss-Prot annotated as Polymorphism | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| P78363 | G2059A | Swiss-Prot annotated as Polymorphism | P78363_chr1:93930597-94058402_R212H_H423R_E471K_S752I_R943Q_L1125H_L1126HQ_P1395L_T1428M_R1517S_I1562T_G1578R_V1686G_N1868I_R1898H_G1961E_L1970F_R2107S_D2177N_S2255I RETINAL-SPECIFIC ATP-BINDING CASSE |
| Q09428 | L1543P | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | A1457T | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1379C | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | E1506K | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1436Q | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | G1478R | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | K719T | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | S1386F | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1450P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1352P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1420C | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1400R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1493W | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | K1384Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | S1386F | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | L1450P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1352P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1420C | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | G1400R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1493W | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | K1384Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | S1386F | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1450P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1352P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1420C | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1400R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1493W | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | K1384Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | S1386F | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | L1450P | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1352P | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1420C | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | G1400R | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1493W | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | K1384Q | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | L1349Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1550D | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1352H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | D1471N | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1418H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1381S | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1493Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | I1424V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1349Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | V1550D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1352H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | D1471N | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1418H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | G1381S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1493Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | I1424V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | L1349Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1550D | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1352H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | D1471N | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1418H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1381S | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1493Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | I1424V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1349Q | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | V1550D | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1352H | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | D1471N | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1418H | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | G1381S | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1493Q | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | I1424V | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R841G | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | K889T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1360M | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1551V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | D1471H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1393H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1378R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1486K | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | G716V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R841G | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | K889T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | V1360M | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | L1551V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | D1471H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1393H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | G1378R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1486K | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | G716V | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R841G | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | K889T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1360M | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1551V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | D1471H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1393H | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1378R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1486K | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | G716V | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R841G | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | K889T | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | V1360M | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | L1551V | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | D1471H | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1393H | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | G1378R | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R1486K | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | G716V | Swiss-Prot annotated as Disease | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | K719T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | L1543P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | A1457T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1379C | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | E1506K | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1436Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1478R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | K719T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | L1543P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | A1457T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1379C | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | E1506K | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R1436Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | G1478R | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | L1543P | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | A1457T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1379C | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | E1506K | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R1436Q | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | G1478R | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | K719T | Swiss-Prot annotated as Disease | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1360G | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R834C | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | V1572I | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | D810N | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1572I | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | D810N | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | V1572I | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | D810N | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1572I | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | D810N | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | S1369A | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | S1369A | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | S1369A | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | S1369A | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1) |
| Q09428 | R834C | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1360G | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1 |
| Q09428 | V1360G | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | R834C | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1; |
| Q09428 | V1360G | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q09428 | R834C | Swiss-Prot annotated as Polymorphism | Q09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1 |
| Q86UK0 | D2365N | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q86UK0 | R1514H | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q86UK0 | N1380S | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | N1380S | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | N1380S | Swiss-Prot annotated as Disease | ABCA12 transporter subfamily A |
| Q86UK0 | N1380S | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q86UK0 | G1381E | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | G1381E | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | G1381E | Swiss-Prot annotated as Disease | ABCA12 transporter subfamily A |
| Q86UK0 | G1381E | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q86UK0 | E1539K | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | E1539K | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | E1539K | Swiss-Prot annotated as Disease | ABCA12 transporter subfamily A |
| Q86UK0 | E1539K | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q86UK0 | D2365N | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | R1514H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | D2365N | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | R1514H | Swiss-Prot annotated as Disease | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | D2365N | Swiss-Prot annotated as Disease | ABCA12 transporter subfamily A |
| Q86UK0 | R1514H | Swiss-Prot annotated as Disease | ABCA12 transporter subfamily A |
| Q86UK0 | R1546C | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12; |
| Q86UK0 | R1546C | Swiss-Prot annotated as Polymorphism | Q86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A |
| Q86UK0 | R1546C | Swiss-Prot annotated as Polymorphism | ABCA12 transporter subfamily A |
| Q86UK0 | R1546C | Swiss-Prot annotated as Polymorphism | Q86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A |
| Q8IUA7 | K1306T | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 9; |
| Q8IUA7 | K1306T | Swiss-Prot annotated as Polymorphism | ATP-binding cassette sub-family A member 9 |
| Q8IUA7 | G1356S | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 9; |
| Q8IUA7 | G1356S | Swiss-Prot annotated as Polymorphism | ATP-binding cassette sub-family A member 9 |
| Q8IZY2 | A2045S | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 7;AltName: Full=Macrophage ABC transporter;AltName: Full=Autoantigen SS-N;AltName: Full=ABCA-SSN; |
| Q8IZY2 | A2045S | Swiss-Prot annotated as Polymorphism | ATP-binding cassette sub-family A member 7 (Macrophage ABCtransporter) (Autoantigen SS-N) (ABCA-SSN) |
| Q8IZY2 | A2045S | Swiss-Prot annotated as Polymorphism | ABC transporter ABCA7 |
| Q8N139 | N1322S | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 6; |
| Q8N139 | N1322S | Swiss-Prot annotated as Polymorphism | ABC transporter ABCA6 |
| Q8N139 | N610Y | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 6; |
| Q8N139 | N610Y | Swiss-Prot annotated as Polymorphism | ABC transporter ABCA6 |
| Q8WWZ7 | Q484R | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family A member 5; |
| Q8WWZ7 | Q484R | Swiss-Prot annotated as Polymorphism | Q8WWZ7_chr17:67840804-67907679_L43F_Q93K_A178T_M753V_S832A_M960V_D1260G_K1313R_G1348S |
| Q8WWZ7 | Q484R | Swiss-Prot annotated as Polymorphism | ATP-binding cassette A5 |
| Q8WWZ7 | Q484R | Swiss-Prot annotated as Polymorphism | Q8WWZ7_chr17:67840804-67907679_S1348 |
| Q92887 | R768W | Swiss-Prot annotated as Disease | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | R768W | Swiss-Prot annotated as Disease | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | R768W | Swiss-Prot annotated as Disease | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | Q1382R | Swiss-Prot annotated as Disease | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | Q1382R | Swiss-Prot annotated as Disease | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | Q1382R | Swiss-Prot annotated as Disease | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | L849R | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | I670T | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | I670T | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | I670T | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | C1515Y | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | C1515Y | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | S789F | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | C1515Y | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | S789F | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | A1450T | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | S789F | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | A1450T | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q92887 | A1450T | Swiss-Prot annotated as Polymorphism | RecName: Full=Canalicular multispecific organic anion transporter 1;AltName: Full=ATP-binding cassette sub-family C member 2;AltName: Full=Multidrug resistance-associated protein 2;AltName: Full=Canal |
| Q92887 | L849R | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI |
| Q92887 | L849R | Swiss-Prot annotated as Polymorphism | Q92887_chr10:101207189-101275972_F39Y_M246L_D333G_R353H_V417I_T486I_K495E_F562L_I670T_N718S_L849R_E893Q_I982V_I1036T_N1063S_R1181L_V1188E_T1273A_P1291L_K1299Q_C1515Y CANALICULAR MULTISPECIFIC ORGANIC |
| Q96J65 | E1191A | Swiss-Prot annotated as Polymorphism | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | R723Q | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | E1191A | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | N587Y | Swiss-Prot annotated as Polymorphism | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | E1191A | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | N587Y | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | E1191A | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | N587Y | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | E1191A | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | N587Y | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | N587Y | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | S1512L | Swiss-Prot annotated as Polymorphism | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | S1512L | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | S1512L | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | S1512L | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | F1349L | Swiss-Prot annotated as Polymorphism | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | S1512L | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | F1349L | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | R723Q | Swiss-Prot annotated as Polymorphism | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | F1349L | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | R723Q | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | F1349L | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | R723Q | Swiss-Prot annotated as Polymorphism | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | F1349L | Swiss-Prot annotated as Polymorphism | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | R723Q | Swiss-Prot annotated as Polymorphism | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | G671V | Swiss-Prot annotated as Unclassified | Multidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12) |
| Q96J65 | G671V | Swiss-Prot annotated as Unclassified | Q96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | G671V | Swiss-Prot annotated as Unclassified | ATP-binding cassette transporter sub-family C member 12 |
| Q96J65 | G671V | Swiss-Prot annotated as Unclassified | RecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12; |
| Q96J65 | G671V | Swiss-Prot annotated as Unclassified | Q96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12 |
| Q99758 | Q1591P | Swiss-Prot annotated as Disease | ATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter) |
| Q99758 | N568D | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 3;AltName: Full=ATP-binding cassette transporter 3;Short=ATP-binding cassette 3;AltName: Full=ABC-C transporter; |
| Q99758 | N568D | Swiss-Prot annotated as Disease | Q99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR |
| Q99758 | N568D | Swiss-Prot annotated as Disease | ATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter) |
| Q99758 | L1553P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 3;AltName: Full=ATP-binding cassette transporter 3;Short=ATP-binding cassette 3;AltName: Full=ABC-C transporter; |
| Q99758 | L1553P | Swiss-Prot annotated as Disease | Q99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR |
| Q99758 | L1553P | Swiss-Prot annotated as Disease | ATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter) |
| Q99758 | Q1591P | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family A member 3;AltName: Full=ATP-binding cassette transporter 3;Short=ATP-binding cassette 3;AltName: Full=ABC-C transporter; |
| Q99758 | Q1591P | Swiss-Prot annotated as Disease | Q99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR |
| Q9H221 | R263Q | Swiss-Prot annotated as Disease | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | R263Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H221 | R184H | Swiss-Prot annotated as Disease | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | R184H | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H221 | P231T | Swiss-Prot annotated as Disease | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | P231T | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H221 | V210M | Swiss-Prot annotated as Polymorphism | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | V210M | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H221 | E238K | Swiss-Prot annotated as Polymorphism | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | E238K | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H221 | A259V | Swiss-Prot annotated as Polymorphism | Q9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8 |
| Q9H221 | A259V | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2; |
| Q9H222 | E146Q | Swiss-Prot annotated as Disease | Q9H222_chr2:44014793-44040353_R50C_A478T_Q604E ABCG5 (STEROLIN) |
| Q9H222 | E146Q | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family G member 5;AltName: Full=Sterolin-1; |
| Q9NP58 | R648Q | Swiss-Prot annotated as Polymorphism | Q9NP58_chr2:220277202-220285934_S250C ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 6, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ABC TRANSPORTER 3) (MT-ABC TRAN |
| Q9NP58 | R648Q | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family B member 6, mitochondrial;AltName: Full=Mitochondrial ABC transporter 3;Short=Mt-ABC transporter 3;AltName: Full=Ubiquitously-expressed mammalian ABC half |
| Q9NP58 | R648Q | Swiss-Prot annotated as Polymorphism | Q9NP58_chr2:220277202-220285934_C250 ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 6, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ABC TRANSPORTER 3) (MT-ABC TRAN |
| Q9NRK6 | D545N | Swiss-Prot annotated as Polymorphism | Q9NRK6_chr1:226615140-226655610_A150S M-ABC2 protein |
| Q9NRK6 | D545N | Swiss-Prot annotated as Polymorphism | ATP-binding cassette sub-family B member 10, mitochondrial precursorDE (ATP-binding cassette transporter 10) (ABC transporter 10 protein)DE (Mitochondrial ATP-binding cassette 2) (M-ABC2) |
| Q9NRK6 | D545N | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family B member 10, mitochondrial;AltName: Full=ATP-binding cassette transporter 10;Short=ABC transporter 10 protein;AltName: Full=Mitochondrial ATP-binding cass |
| Q9NUQ8 | R510H | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family F member 3; |
| Q9NUQ8 | R510H | Swiss-Prot annotated as Polymorphism | Q9NUQ8_chr3:185224909-185232396_P503L_R510H CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUQ8 | R510H | Swiss-Prot annotated as Polymorphism | CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUQ8 | R510H | Swiss-Prot annotated as Polymorphism | Q9NUQ8_chr3:185224909-185232396_H510 CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUQ8 | P503L | Swiss-Prot annotated as Polymorphism | RecName: Full=ATP-binding cassette sub-family F member 3; |
| Q9NUQ8 | P503L | Swiss-Prot annotated as Polymorphism | Q9NUQ8_chr3:185224909-185232396_P503L_R510H CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUQ8 | P503L | Swiss-Prot annotated as Polymorphism | CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUQ8 | P503L | Swiss-Prot annotated as Polymorphism | Q9NUQ8_chr3:185224909-185232396_H510 CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN |
| Q9NUT2 | A690G | Swiss-Prot annotated as Disease | ATP-binding cassette sub-family B member 8, mitochondrial precursorDE (Mitochondrial ATP-binding cassette 1) (M-ABC1) |
| Q9NUT2 | A690G | Swiss-Prot annotated as Disease | Q9NUT2_chr7:150117344-150134174_C577 ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 8, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ATP-BINDING CASSETTE 1) (M-ABC1 |
| Q9NUT2 | A690G | Swiss-Prot annotated as Disease | RecName: Full=ATP-binding cassette sub-family B member 8, mitochondrial;AltName: Full=Mitochondrial ATP-binding cassette 1;Short=M-ABC1;Flags: Precursor; |
| Q9NUT2 | A690G | Swiss-Prot annotated as Disease | Q9NUT2_chr7:150117344-150134174_S56N_V152I_S577C ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 8, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ATP-BINDING CASSETTE 1) (M-ABC1 |
| Q9UNQ0 | Q141K | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | Q141K | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | I206L | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | T316P | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | I206L | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | T316P | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | I206L | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | T316P | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | I206L | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | T316P | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | F208S | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | S248P | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | F208S | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | S248P | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | F208S | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | S248P | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | F208S | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | S248P | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | D296H | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | Q166E | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | D296H | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | Q166E | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | D296H | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | Q166E | Swiss-Prot annotated as Polymorphism | ATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein) |
| Q9UNQ0 | D296H | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | Q166E | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | Q141K | Swiss-Prot annotated as Polymorphism | Q9UNQ0_chr4:89471784-89519542_V12M_Q141K_E166Q_F208S_S248P ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |
| Q9UNQ0 | Q141K | Swiss-Prot annotated as Polymorphism | ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE |