ABC SNP modeling

ThumbprintDatabase IDSNPDescriptionUniprot Annotation
O15438R1381SSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438R1381SSwiss-Prot annotated as PolymorphismRecName: 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
O15438Q1365RSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438Q1365RSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438Q1365RSwiss-Prot annotated as PolymorphismRecName: 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
O15438R1297HSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438R1297HSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438R1297HSwiss-Prot annotated as PolymorphismRecName: 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
O15438R1348CSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438R1348CSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_S314I_S346F_T527RS_A528G_S607N_K718M CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15438R1348CSwiss-Prot annotated as PolymorphismRecName: 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
O15438R1381SSwiss-Prot annotated as PolymorphismO15438_chr17:49211234-49229943_M718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 3)
O15439G487ESwiss-Prot annotated as PolymorphismO15439_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
O15439G487ESwiss-Prot annotated as PolymorphismRecName: 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
O15439G487ESwiss-Prot annotated as PolymorphismO15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B)
O15439K498ESwiss-Prot annotated as PolymorphismO15439_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
O15439K498ESwiss-Prot annotated as PolymorphismRecName: 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
O15439K498ESwiss-Prot annotated as PolymorphismO15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B)
O15439T1142MSwiss-Prot annotated as PolymorphismO15439_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
O15439T1142MSwiss-Prot annotated as PolymorphismRecName: 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
O15439T1142MSwiss-Prot annotated as PolymorphismO15439_chr13:93371833-93651569_Q1220 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4 (MRP/CMOAT-RELATED ABCDE TRANSPORTER) (MOAT-B)
O60706A1513TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 9;AltName: Full=Sulfonylurea receptor 2;
O94911C680GSwiss-Prot annotated as PolymorphismO94911_chr17:67461352-67548507_F499 KIAA0822 PROTEIN
O94911Y489FSwiss-Prot annotated as PolymorphismKIAA0822 protein (Fragment)
O94911Y489FSwiss-Prot annotated as PolymorphismO94911_chr17:67461352-67548507_G341S_Y499F KIAA0822 PROTEIN
O94911Y489FSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 8;
O94911Y489FSwiss-Prot annotated as PolymorphismHypothetical protein KIAA0822
O94911Y489FSwiss-Prot annotated as PolymorphismO94911_chr17:67461352-67548507_F499 KIAA0822 PROTEIN
O94911C680GSwiss-Prot annotated as PolymorphismKIAA0822 protein (Fragment)
O94911C680GSwiss-Prot annotated as PolymorphismO94911_chr17:67461352-67548507_G341S_Y499F KIAA0822 PROTEIN
O94911C680GSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 8;
O94911C680GSwiss-Prot annotated as PolymorphismHypothetical protein KIAA0822
O95255L673PSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255V1298FSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255L673PSwiss-Prot annotated as DiseaseRecName: 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
O95255V1298FSwiss-Prot annotated as DiseaseRecName: 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
O95255I1424TSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255T1301ISwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255I1424TSwiss-Prot annotated as DiseaseRecName: 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
O95255T1301ISwiss-Prot annotated as DiseaseRecName: 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
O95255R765QSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255R765QSwiss-Prot annotated as DiseaseRecName: 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
O95255A1303PSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255R1339CSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255A1303PSwiss-Prot annotated as DiseaseRecName: 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
O95255R1339CSwiss-Prot annotated as DiseaseRecName: 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
O95255D1361NSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255R1314WSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255D1361NSwiss-Prot annotated as DiseaseRecName: 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
O95255R1314WSwiss-Prot annotated as DiseaseRecName: 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
O95255R1314QSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255G1302RSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255R1314QSwiss-Prot annotated as DiseaseRecName: 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
O95255G1302RSwiss-Prot annotated as DiseaseRecName: 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
O95255G1321SSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255G1321SSwiss-Prot annotated as DiseaseRecName: 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
O95255Q1347HSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255G1354RSwiss-Prot annotated as DiseaseO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255Q1347HSwiss-Prot annotated as DiseaseRecName: 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
O95255G1354RSwiss-Prot annotated as DiseaseRecName: 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
O95255H632QSwiss-Prot annotated as PolymorphismO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255H632QSwiss-Prot annotated as PolymorphismRecName: 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
O95255R1268QSwiss-Prot annotated as PolymorphismO95255_chr16:16210347-16283645_K281E_H632Q_V665A_V848M_R899G_R1268Q MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6 (ANTHRACYCLINE RESISTANCE-DE ASSOCIATED PROTEIN)
O95255R1268QSwiss-Prot annotated as PolymorphismRecName: 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
O95342R1153CSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342R1128HSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R1128HSwiss-Prot annotated as DiseaseO95342_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)
O95342R1128HSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342K461ESwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342K461ESwiss-Prot annotated as DiseaseO95342_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)
O95342K461ESwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342R432TSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R432TSwiss-Prot annotated as DiseaseO95342_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)
O95342R432TSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342D482GSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R1268QSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342D482GSwiss-Prot annotated as DiseaseO95342_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)
O95342R1268QSwiss-Prot annotated as DiseaseO95342_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)
O95342D482GSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342R1268QSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342A570TSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R1153CSwiss-Prot annotated as DiseaseO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342A570TSwiss-Prot annotated as DiseaseO95342_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)
O95342R1153CSwiss-Prot annotated as DiseaseO95342_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)
O95342A570TSwiss-Prot annotated as DiseaseRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342V444ASwiss-Prot annotated as PolymorphismO95342_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)
O95342V444ASwiss-Prot annotated as PolymorphismRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342T619ASwiss-Prot annotated as PolymorphismO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342T619ASwiss-Prot annotated as PolymorphismO95342_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)
O95342T619ASwiss-Prot annotated as PolymorphismRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342R616GSwiss-Prot annotated as PolymorphismO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R616GSwiss-Prot annotated as PolymorphismO95342_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)
O95342E1186KSwiss-Prot annotated as PolymorphismO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95342R616GSwiss-Prot annotated as PolymorphismRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342E1186KSwiss-Prot annotated as PolymorphismO95342_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)
O95342E1186KSwiss-Prot annotated as PolymorphismRecName: Full=Bile salt export pump;AltName: Full=ATP-binding cassette sub-family B member 11;
O95342V444ASwiss-Prot annotated as PolymorphismO95342_chr2:169982679-170077179_Q592 BILE SALT EXPORT PUMP (ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 11)
O95477D917YSwiss-Prot annotated as DiseaseO95477_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
O95477D917YSwiss-Prot annotated as DiseaseRecName: 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;
O95477D917YSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477D1099YSwiss-Prot annotated as DiseaseO95477_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
O95477D1099YSwiss-Prot annotated as DiseaseRecName: 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;
O95477T929ISwiss-Prot annotated as DiseaseO95477_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
O95477D1099YSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477T929ISwiss-Prot annotated as DiseaseRecName: 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;
O95477A937VSwiss-Prot annotated as DiseaseO95477_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
O95477T929ISwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477A937VSwiss-Prot annotated as DiseaseRecName: 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;
O95477R2081WSwiss-Prot annotated as DiseaseO95477_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
O95477A937VSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477R2081WSwiss-Prot annotated as DiseaseRecName: 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;
O95477A2109TSwiss-Prot annotated as DiseaseO95477_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
O95477R2081WSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477A2109TSwiss-Prot annotated as DiseaseRecName: 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;
O95477N935SSwiss-Prot annotated as DiseaseO95477_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
O95477A2109TSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477N935SSwiss-Prot annotated as DiseaseRecName: 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;
O95477A1046DSwiss-Prot annotated as DiseaseO95477_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
O95477N935SSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477A1046DSwiss-Prot annotated as DiseaseRecName: 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;
O95477M1091TSwiss-Prot annotated as DiseaseO95477_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
O95477A1046DSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
O95477M1091TSwiss-Prot annotated as DiseaseRecName: 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;
O95477M1091TSwiss-Prot annotated as DiseaseO95477_chr9:102926437-103045798_K1005 ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1 (ATP-BINDING CASSETTEDE TRANSPORTER 1) (ATP-BINDING CASSETTE 1) (ABC-1) (
P08183V1251ISwiss-Prot annotated as PolymorphismRecName: 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;
P08183P1051ASwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183V1251ISwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183E566KSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183S400NSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183E566KSwiss-Prot annotated as PolymorphismRecName: 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;
P08183S400NSwiss-Prot annotated as PolymorphismRecName: 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;
P08183E566KSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183S400NSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183S1141TSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183S1141TSwiss-Prot annotated as PolymorphismRecName: 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;
P08183S1141TSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183R593CSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183R593CSwiss-Prot annotated as PolymorphismRecName: 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;
P08183R593CSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183Q1107PSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183Q1107PSwiss-Prot annotated as PolymorphismRecName: 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;
P08183Q1107PSwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_M1145 MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183P1051ASwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183V1251ISwiss-Prot annotated as PolymorphismP08183_chr7:86745591-86841529_N44S_G185V_S400N_A599T_V801M_I829V_A893STP_G1063A_I1145M MULTIDRUG RESISTANCE PROTEIN 1 (P-GLYCOPROTEIN 1)
P08183P1051ASwiss-Prot annotated as PolymorphismRecName: 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;
P13569V520FSwiss-Prot annotated as DiseaseP13569_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
P13569R560SSwiss-Prot annotated as DiseaseP13569_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
P13569I601FSwiss-Prot annotated as DiseaseP13569_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
P13569G1249ESwiss-Prot annotated as DiseaseP13569_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
P13569Y563NSwiss-Prot annotated as DiseaseP13569_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
P13569S1251NSwiss-Prot annotated as DiseaseP13569_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
P13569L571SSwiss-Prot annotated as DiseaseP13569_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
P13569G544VSwiss-Prot annotated as DiseaseP13569_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
P13569A613TSwiss-Prot annotated as DiseaseP13569_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
P13569S549NSwiss-Prot annotated as DiseaseP13569_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
P13569N1303HSwiss-Prot annotated as DiseaseP13569_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
P13569D579GSwiss-Prot annotated as DiseaseP13569_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
P13569T665SSwiss-Prot annotated as DiseaseP13569_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
P13569Q1291RSwiss-Prot annotated as DiseaseP13569_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
P13569I1234VSwiss-Prot annotated as DiseaseP13569_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
P13569E504QSwiss-Prot annotated as DiseaseP13569_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
P13569V520FSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R560SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569I601FSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G1249ESwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Y563NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S1251NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L571SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G544VSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569A613TSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S549NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569N1303HSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D579GSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569T665SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Q1291RSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569I1234VSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569E504QSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V520FSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R560SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I601FSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G1249ESwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Y563NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S1251NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L571SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G544VSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569A613TSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S549NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569N1303HSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D579GSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569T665SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Q1291RSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I1234VSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569E504QSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R560KSwiss-Prot annotated as DiseaseRecName: 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;
P13569G1244ESwiss-Prot annotated as DiseaseRecName: 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;
P13569W1282RSwiss-Prot annotated as DiseaseRecName: 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;
P13569S1235RSwiss-Prot annotated as DiseaseRecName: 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;
P13569L558SSwiss-Prot annotated as DiseaseRecName: 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;
P13569G480CSwiss-Prot annotated as DiseaseRecName: 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;
P13569A559TSwiss-Prot annotated as DiseaseRecName: 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;
P13569Y569HSwiss-Prot annotated as DiseaseRecName: 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;
P13569S549ISwiss-Prot annotated as DiseaseRecName: 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;
P13569L633PSwiss-Prot annotated as DiseaseRecName: 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;
P13569D572NSwiss-Prot annotated as DiseaseRecName: 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;
P13569Q1291HSwiss-Prot annotated as DiseaseRecName: 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;
P13569H620QSwiss-Prot annotated as DiseaseRecName: 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;
P13569D651NSwiss-Prot annotated as DiseaseRecName: 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;
P13569R560KSwiss-Prot annotated as DiseaseP13569_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
P13569G1244ESwiss-Prot annotated as DiseaseP13569_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
P13569W1282RSwiss-Prot annotated as DiseaseP13569_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
P13569S1235RSwiss-Prot annotated as DiseaseP13569_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
P13569L558SSwiss-Prot annotated as DiseaseP13569_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
P13569G480CSwiss-Prot annotated as DiseaseP13569_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
P13569A559TSwiss-Prot annotated as DiseaseP13569_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
P13569Y569HSwiss-Prot annotated as DiseaseP13569_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
P13569S549ISwiss-Prot annotated as DiseaseP13569_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
P13569L633PSwiss-Prot annotated as DiseaseP13569_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
P13569D572NSwiss-Prot annotated as DiseaseP13569_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
P13569Q1291HSwiss-Prot annotated as DiseaseP13569_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
P13569H620QSwiss-Prot annotated as DiseaseP13569_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
P13569D651NSwiss-Prot annotated as DiseaseP13569_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
P13569G1244ESwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569W1282RSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S1235RSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L558SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G480CSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569A559TSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Y569HSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S549ISwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L633PSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D572NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Q1291HSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569H620QSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D651NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R560KSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G1244ESwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569W1282RSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S1235RSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L558SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G480CSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569A559TSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Y569HSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S549ISwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L633PSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D572NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Q1291HSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569H620QSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D651NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R560KSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V562LSwiss-Prot annotated as DiseaseRecName: 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;
P13569G458VSwiss-Prot annotated as DiseaseRecName: 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;
P13569A455ESwiss-Prot annotated as DiseaseRecName: 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;
P13569Y569DSwiss-Prot annotated as DiseaseRecName: 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;
P13569S492FSwiss-Prot annotated as DiseaseRecName: 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;
P13569L619SSwiss-Prot annotated as DiseaseRecName: 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;
P13569G551SSwiss-Prot annotated as DiseaseRecName: 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;
P13569D513GSwiss-Prot annotated as DiseaseRecName: 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;
P13569P574HSwiss-Prot annotated as DiseaseRecName: 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;
P13569H620PSwiss-Prot annotated as DiseaseRecName: 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;
P13569D648VSwiss-Prot annotated as DiseaseRecName: 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;
P13569V456FSwiss-Prot annotated as DiseaseRecName: 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;
P13569R553QSwiss-Prot annotated as DiseaseRecName: 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;
P13569V562LSwiss-Prot annotated as DiseaseP13569_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
P13569G458VSwiss-Prot annotated as DiseaseP13569_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
P13569A455ESwiss-Prot annotated as DiseaseP13569_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
P13569Y569DSwiss-Prot annotated as DiseaseP13569_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
P13569S492FSwiss-Prot annotated as DiseaseP13569_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
P13569L619SSwiss-Prot annotated as DiseaseP13569_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
P13569G551SSwiss-Prot annotated as DiseaseP13569_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
P13569D513GSwiss-Prot annotated as DiseaseP13569_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
P13569P574HSwiss-Prot annotated as DiseaseP13569_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
P13569H620PSwiss-Prot annotated as DiseaseP13569_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
P13569D648VSwiss-Prot annotated as DiseaseP13569_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
P13569V456FSwiss-Prot annotated as DiseaseP13569_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
P13569R553QSwiss-Prot annotated as DiseaseP13569_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
P13569V562LSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G458VSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569A455ESwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Y569DSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S492FSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L619SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G551SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D513GSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569P574HSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569H620PSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D648VSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V456FSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R553QSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V562LSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G458VSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569A455ESwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Y569DSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S492FSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L619SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G551SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D513GSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569P574HSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569H620PSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D648VSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V456FSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R553QSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R560TSwiss-Prot annotated as DiseaseRecName: 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;
P13569I618TSwiss-Prot annotated as DiseaseRecName: 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;
P13569G1349DSwiss-Prot annotated as DiseaseRecName: 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;
P13569A1364VSwiss-Prot annotated as DiseaseRecName: 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;
P13569Y569CSwiss-Prot annotated as DiseaseRecName: 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;
P13569S1255PSwiss-Prot annotated as DiseaseRecName: 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;
P13569L610SSwiss-Prot annotated as DiseaseRecName: 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;
P13569G551DSwiss-Prot annotated as DiseaseRecName: 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;
P13569D1270NSwiss-Prot annotated as DiseaseRecName: 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;
P13569S549RSwiss-Prot annotated as DiseaseRecName: 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;
P13569N1303KSwiss-Prot annotated as DiseaseRecName: 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;
P13569G628RSwiss-Prot annotated as DiseaseRecName: 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;
P13569D614GSwiss-Prot annotated as DiseaseRecName: 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;
P13569V1397ESwiss-Prot annotated as DiseaseRecName: 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;
P13569R1283MSwiss-Prot annotated as DiseaseRecName: 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;
P13569F1286SSwiss-Prot annotated as DiseaseRecName: 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;
P13569R560TSwiss-Prot annotated as DiseaseP13569_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
P13569I618TSwiss-Prot annotated as DiseaseP13569_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
P13569G1349DSwiss-Prot annotated as DiseaseP13569_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
P13569A1364VSwiss-Prot annotated as DiseaseP13569_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
P13569Y569CSwiss-Prot annotated as DiseaseP13569_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
P13569S1255PSwiss-Prot annotated as DiseaseP13569_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
P13569L610SSwiss-Prot annotated as DiseaseP13569_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
P13569G551DSwiss-Prot annotated as DiseaseP13569_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
P13569D1270NSwiss-Prot annotated as DiseaseP13569_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
P13569S549RSwiss-Prot annotated as DiseaseP13569_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
P13569N1303KSwiss-Prot annotated as DiseaseP13569_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
P13569G628RSwiss-Prot annotated as DiseaseP13569_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
P13569D614GSwiss-Prot annotated as DiseaseP13569_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
P13569V1397ESwiss-Prot annotated as DiseaseP13569_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
P13569R1283MSwiss-Prot annotated as DiseaseP13569_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
P13569F1286SSwiss-Prot annotated as DiseaseP13569_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
P13569R560TSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569I618TSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G1349DSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569A1364VSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569Y569CSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S1255PSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L610SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G551DSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D1270NSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S549RSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569N1303KSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G628RSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569D614GSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V1397ESwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R1283MSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569F1286SSwiss-Prot annotated as DiseaseCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R560TSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I618TSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G1349DSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569A1364VSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569Y569CSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S1255PSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L610SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G551DSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D1270NSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S549RSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569N1303KSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G628RSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569D614GSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V1397ESwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R1283MSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569F1286SSwiss-Prot annotated as DiseaseP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V520FSwiss-Prot annotated as DiseaseRecName: 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;
P13569R560SSwiss-Prot annotated as DiseaseRecName: 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;
P13569I601FSwiss-Prot annotated as DiseaseRecName: 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;
P13569G1249ESwiss-Prot annotated as DiseaseRecName: 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;
P13569Y563NSwiss-Prot annotated as DiseaseRecName: 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;
P13569S1251NSwiss-Prot annotated as DiseaseRecName: 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;
P13569L571SSwiss-Prot annotated as DiseaseRecName: 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;
P13569G544VSwiss-Prot annotated as DiseaseRecName: 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;
P13569A613TSwiss-Prot annotated as DiseaseRecName: 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;
P13569S549NSwiss-Prot annotated as DiseaseRecName: 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;
P13569N1303HSwiss-Prot annotated as DiseaseRecName: 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;
P13569D579GSwiss-Prot annotated as DiseaseRecName: 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;
P13569T665SSwiss-Prot annotated as DiseaseRecName: 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;
P13569Q1291RSwiss-Prot annotated as DiseaseRecName: 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;
P13569I1234VSwiss-Prot annotated as DiseaseRecName: 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;
P13569E504QSwiss-Prot annotated as DiseaseRecName: 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;
P13569V470MSwiss-Prot annotated as PolymorphismRecName: 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;
P13569I507VSwiss-Prot annotated as PolymorphismRecName: 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;
P13569G576ASwiss-Prot annotated as PolymorphismRecName: 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;
P13569T1220ISwiss-Prot annotated as PolymorphismRecName: 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;
P13569I507VSwiss-Prot annotated as PolymorphismP13569_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
P13569G576ASwiss-Prot annotated as PolymorphismP13569_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
P13569T1220ISwiss-Prot annotated as PolymorphismP13569_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
P13569V470MSwiss-Prot annotated as PolymorphismP13569_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
P13569I507VSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G576ASwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569T1220ISwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V470MSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G576ASwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569T1220ISwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V470MSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I507VSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569R668CSwiss-Prot annotated as PolymorphismRecName: 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;
P13569L467FSwiss-Prot annotated as PolymorphismRecName: 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;
P13569S654GSwiss-Prot annotated as PolymorphismRecName: 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;
P13569I506VSwiss-Prot annotated as PolymorphismRecName: 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;
P13569F508CSwiss-Prot annotated as PolymorphismRecName: 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;
P13569R668CSwiss-Prot annotated as PolymorphismP13569_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
P13569L467FSwiss-Prot annotated as PolymorphismP13569_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
P13569S654GSwiss-Prot annotated as PolymorphismP13569_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
P13569I506VSwiss-Prot annotated as PolymorphismP13569_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
P13569F508CSwiss-Prot annotated as PolymorphismP13569_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
P13569R668CSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569L467FSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569S654GSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569I506VSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569F508CSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569R668CSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569L467FSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569S654GSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I506VSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569F508CSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569V562ISwiss-Prot annotated as PolymorphismRecName: 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;
P13569I506MSwiss-Prot annotated as PolymorphismRecName: 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;
P13569V562ISwiss-Prot annotated as PolymorphismP13569_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
P13569I506MSwiss-Prot annotated as PolymorphismP13569_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
P13569V562ISwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569I506MSwiss-Prot annotated as PolymorphismCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569V562ISwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569I506MSwiss-Prot annotated as PolymorphismP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G622DSwiss-Prot annotated as UnclassifiedP13569_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
P13569G622DSwiss-Prot annotated as UnclassifiedCystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-DE dependent chloride channel) (ATP-binding cassette transporter sub-DE family C member 7)
P13569G622DSwiss-Prot annotated as UnclassifiedP13569_chr7:116674652-116861662_L693 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP-DE DEPENDENT CHLORIDE CHANNEL)
P13569G622DSwiss-Prot annotated as UnclassifiedRecName: 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;
P21439A546DSwiss-Prot annotated as DiseaseP21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439A546DSwiss-Prot annotated as DiseaseMultidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3)
P21439A546DSwiss-Prot annotated as DiseaseRecName: 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;
P21439P1168SSwiss-Prot annotated as DiseaseP21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439P1168SSwiss-Prot annotated as DiseaseP21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439P1168SSwiss-Prot annotated as DiseaseMultidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3)
P21439P1168SSwiss-Prot annotated as DiseaseRecName: 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;
P21439A546DSwiss-Prot annotated as DiseaseP21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439R590QSwiss-Prot annotated as PolymorphismP21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439R590QSwiss-Prot annotated as PolymorphismP21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439R590QSwiss-Prot annotated as PolymorphismMultidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3)
P21439R590QSwiss-Prot annotated as PolymorphismRecName: 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;
P21439E528DSwiss-Prot annotated as PolymorphismP21439_chr7:86643444-86716810_V1185 MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439E528DSwiss-Prot annotated as PolymorphismP21439_chr7:86643444-86716810_L73V_L238V_E528D_T651N_R652G_R788Q_A1100T_I1185V MULTIDRUG RESISTANCE PROTEIN 3 (P-GLYCOPROTEIN 3)
P21439E528DSwiss-Prot annotated as PolymorphismMultidrug resistance protein 3 (EC 3.6.3.44) (P-glycoprotein 3)
P21439E528DSwiss-Prot annotated as PolymorphismRecName: 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;
P33897S552PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897E630GSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897V635MSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897L503PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P560SSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R591WSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897A626DSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S515FSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897E609KSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897T668ISwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897H667DSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P560RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R591QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897A616VSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897E609KSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897T668ISwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897H667DSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P560RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R591QSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897A616VSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S515FSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897T632ISwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897G608DSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P560LSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R591PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S514RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897E609GSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897T632ISwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897G608DSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P560LSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R591PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S514RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897E609GSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S636ISwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897G529SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P543LSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R554HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R660WSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897D638YSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S636ISwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897G529SSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P543LSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R554HSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R660WSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897D638YSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S633RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897G522WSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P534LSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R518WSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R660PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897D629HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S633RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897G522WSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P534LSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R518WSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R660PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897D629HSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S633ISwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897G512SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P484RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R518QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R617HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897C631YSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S633ISwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897G512SSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897P484RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R518QSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R617HSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897C631YSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S606PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897G507VSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897M566KSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897Q556RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R617GSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897A646PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S606PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897G507VSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897M566KSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897Q556RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R617GSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897A646PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S606LSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897F540SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897W679RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897L654PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897Q544RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R617CSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897A626TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897S606LSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897F540SSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897W679RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897L654PSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897Q544RSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897R617CSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897A626TSwiss-Prot annotated as DiseaseATP-binding cassette, sub-family D, member 1 (AdrenoleukodystrophyDE protein) (ALDP)
P33897S552PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897E630GSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897V635MSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897L503PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897P560SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897R591WSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P33897A626DSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family D member 1;AltName: Full=Adrenoleukodystrophy protein;Short=ALDP;
P78363L1970FSwiss-Prot annotated as DiseaseRecName: 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
P78363R1055WSwiss-Prot annotated as DiseaseRecName: 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
P78363R2038WSwiss-Prot annotated as DiseaseRecName: 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
P78363E1087KSwiss-Prot annotated as DiseaseRecName: 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
P78363T959ISwiss-Prot annotated as DiseaseRecName: 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
P78363Y2071FSwiss-Prot annotated as DiseaseP78363_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
P78363Q957RSwiss-Prot annotated as DiseaseP78363_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
P78363R2030QSwiss-Prot annotated as DiseaseP78363_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
P78363E1087DSwiss-Prot annotated as DiseaseP78363_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
P78363R2149LSwiss-Prot annotated as DiseaseP78363_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
P78363G1977SSwiss-Prot annotated as DiseaseP78363_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
P78363T1112NSwiss-Prot annotated as DiseaseP78363_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
P78363L1014RSwiss-Prot annotated as DiseaseP78363_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
P78363Y2071FSwiss-Prot annotated as DiseaseRecName: 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
P78363Q957RSwiss-Prot annotated as DiseaseRecName: 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
P78363R2030QSwiss-Prot annotated as DiseaseRecName: 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
P78363E1087DSwiss-Prot annotated as DiseaseRecName: 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
P78363R2149LSwiss-Prot annotated as DiseaseRecName: 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
P78363G1977SSwiss-Prot annotated as DiseaseRecName: 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
P78363T1112NSwiss-Prot annotated as DiseaseRecName: 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
P78363L1014RSwiss-Prot annotated as DiseaseRecName: 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
P78363V989ASwiss-Prot annotated as DiseaseP78363_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
P78363R1129LSwiss-Prot annotated as DiseaseP78363_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
P78363E1036KSwiss-Prot annotated as DiseaseP78363_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
P78363R2139WSwiss-Prot annotated as DiseaseP78363_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
P78363G1975RSwiss-Prot annotated as DiseaseP78363_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
P78363T1019MSwiss-Prot annotated as DiseaseP78363_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
P78363K2160RSwiss-Prot annotated as DiseaseP78363_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
P78363V989ASwiss-Prot annotated as DiseaseRecName: 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
P78363R1129LSwiss-Prot annotated as DiseaseRecName: 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
P78363E1036KSwiss-Prot annotated as DiseaseRecName: 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
P78363R2139WSwiss-Prot annotated as DiseaseRecName: 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
P78363G1975RSwiss-Prot annotated as DiseaseRecName: 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
P78363T1019MSwiss-Prot annotated as DiseaseRecName: 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
P78363K2160RSwiss-Prot annotated as DiseaseRecName: 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
P78363V935ASwiss-Prot annotated as DiseaseP78363_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
P78363N965SSwiss-Prot annotated as DiseaseP78363_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
P78363R1129CSwiss-Prot annotated as DiseaseP78363_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
P78363E1022KSwiss-Prot annotated as DiseaseP78363_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
P78363R2107HSwiss-Prot annotated as DiseaseP78363_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
P78363G1961ESwiss-Prot annotated as DiseaseP78363_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
P78363T1019ASwiss-Prot annotated as DiseaseP78363_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
P78363K1031ESwiss-Prot annotated as DiseaseP78363_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
P78363V935ASwiss-Prot annotated as DiseaseRecName: 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
P78363N965SSwiss-Prot annotated as DiseaseRecName: 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
P78363R1129CSwiss-Prot annotated as DiseaseRecName: 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
P78363E1022KSwiss-Prot annotated as DiseaseRecName: 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
P78363R2107HSwiss-Prot annotated as DiseaseRecName: 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
P78363G1961ESwiss-Prot annotated as DiseaseRecName: 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
P78363T1019ASwiss-Prot annotated as DiseaseRecName: 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
P78363K1031ESwiss-Prot annotated as DiseaseRecName: 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
P78363V2050LSwiss-Prot annotated as DiseaseP78363_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
P78363L2060RSwiss-Prot annotated as DiseaseP78363_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
P78363R1108LSwiss-Prot annotated as DiseaseP78363_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
P78363C2150YSwiss-Prot annotated as DiseaseP78363_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
P78363R2107CSwiss-Prot annotated as DiseaseP78363_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
P78363G1091ESwiss-Prot annotated as DiseaseP78363_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
P78363S974PSwiss-Prot annotated as DiseaseP78363_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
P78363H2128RSwiss-Prot annotated as DiseaseP78363_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
P78363V2050LSwiss-Prot annotated as DiseaseRecName: 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
P78363L2060RSwiss-Prot annotated as DiseaseRecName: 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
P78363R1108LSwiss-Prot annotated as DiseaseRecName: 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
P78363C2150YSwiss-Prot annotated as DiseaseRecName: 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
P78363R2107CSwiss-Prot annotated as DiseaseRecName: 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
P78363G1091ESwiss-Prot annotated as DiseaseRecName: 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
P78363S974PSwiss-Prot annotated as DiseaseRecName: 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
P78363H2128RSwiss-Prot annotated as DiseaseRecName: 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
P78363V1072ASwiss-Prot annotated as DiseaseP78363_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
P78363L2035PSwiss-Prot annotated as DiseaseP78363_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
P78363R1108HSwiss-Prot annotated as DiseaseP78363_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
P78363C2150RSwiss-Prot annotated as DiseaseP78363_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
P78363R2106CSwiss-Prot annotated as DiseaseP78363_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
P78363E2131KSwiss-Prot annotated as DiseaseP78363_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
P78363S1071LSwiss-Prot annotated as DiseaseP78363_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
P78363G991RSwiss-Prot annotated as DiseaseP78363_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
P78363V1072ASwiss-Prot annotated as DiseaseRecName: 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
P78363L2035PSwiss-Prot annotated as DiseaseRecName: 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
P78363R1108HSwiss-Prot annotated as DiseaseRecName: 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
P78363C2150RSwiss-Prot annotated as DiseaseRecName: 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
P78363R2106CSwiss-Prot annotated as DiseaseRecName: 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
P78363E2131KSwiss-Prot annotated as DiseaseRecName: 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
P78363S1071LSwiss-Prot annotated as DiseaseRecName: 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
P78363G991RSwiss-Prot annotated as DiseaseRecName: 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
P78363T972NSwiss-Prot annotated as DiseaseP78363_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
P78363L2027FSwiss-Prot annotated as DiseaseP78363_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
P78363R1108CSwiss-Prot annotated as DiseaseP78363_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
P78363A1038VSwiss-Prot annotated as DiseaseP78363_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
P78363R2077WSwiss-Prot annotated as DiseaseP78363_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
P78363E2096KSwiss-Prot annotated as DiseaseP78363_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
P78363S1063PSwiss-Prot annotated as DiseaseP78363_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
P78363G978CSwiss-Prot annotated as DiseaseP78363_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
P78363T972NSwiss-Prot annotated as DiseaseRecName: 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
P78363L2027FSwiss-Prot annotated as DiseaseRecName: 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
P78363R1108CSwiss-Prot annotated as DiseaseRecName: 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
P78363A1038VSwiss-Prot annotated as DiseaseRecName: 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
P78363R2077WSwiss-Prot annotated as DiseaseRecName: 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
P78363E2096KSwiss-Prot annotated as DiseaseRecName: 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
P78363S1063PSwiss-Prot annotated as DiseaseRecName: 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
P78363G978CSwiss-Prot annotated as DiseaseRecName: 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
P78363T971NSwiss-Prot annotated as DiseaseP78363_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
P78363L1971RSwiss-Prot annotated as DiseaseP78363_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
P78363R1097CSwiss-Prot annotated as DiseaseP78363_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
P78363R2077GSwiss-Prot annotated as DiseaseP78363_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
P78363E1122KSwiss-Prot annotated as DiseaseP78363_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
P78363R943WSwiss-Prot annotated as DiseaseP78363_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
P78363G2146DSwiss-Prot annotated as DiseaseP78363_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
P78363T971NSwiss-Prot annotated as DiseaseRecName: 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
P78363L1971RSwiss-Prot annotated as DiseaseRecName: 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
P78363R1097CSwiss-Prot annotated as DiseaseRecName: 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
P78363R2077GSwiss-Prot annotated as DiseaseRecName: 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
P78363E1122KSwiss-Prot annotated as DiseaseRecName: 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
P78363R943WSwiss-Prot annotated as DiseaseRecName: 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
P78363G2146DSwiss-Prot annotated as DiseaseRecName: 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
P78363T959ISwiss-Prot annotated as DiseaseP78363_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
P78363L1970FSwiss-Prot annotated as DiseaseP78363_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
P78363R1055WSwiss-Prot annotated as DiseaseP78363_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
P78363R2038WSwiss-Prot annotated as DiseaseP78363_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
P78363E1087KSwiss-Prot annotated as DiseaseP78363_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
P78363R943QSwiss-Prot annotated as PolymorphismRecName: 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
P78363G2059ASwiss-Prot annotated as PolymorphismRecName: 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
P78363P1948LSwiss-Prot annotated as PolymorphismP78363_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
P78363P1948LSwiss-Prot annotated as PolymorphismRecName: 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
P78363R943QSwiss-Prot annotated as PolymorphismP78363_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
P78363G2059ASwiss-Prot annotated as PolymorphismP78363_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
Q09428L1543PSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428A1457TSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1379CSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428E1506KSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1436QSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428G1478RSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428K719TSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428S1386FSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428L1450PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1352PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1420CSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428G1400RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1493WSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428K1384QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428S1386FSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428L1450PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1352PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1420CSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428G1400RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1493WSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428K1384QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428S1386FSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428L1450PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1352PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1420CSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428G1400RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1493WSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428K1384QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428S1386FSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428L1450PSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1352PSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1420CSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428G1400RSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1493WSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428K1384QSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428L1349QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428V1550DSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1352HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428D1471NSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1418HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428G1381SSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1493QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428I1424VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428L1349QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428V1550DSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1352HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428D1471NSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1418HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428G1381SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1493QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428I1424VSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428L1349QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428V1550DSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1352HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428D1471NSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1418HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428G1381SSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1493QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428I1424VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428L1349QSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428V1550DSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1352HSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428D1471NSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1418HSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428G1381SSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1493QSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428I1424VSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R841GSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428K889TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428V1360MSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428L1551VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428D1471HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1393HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428G1378RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1486KSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428G716VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R841GSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428K889TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428V1360MSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428L1551VSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428D1471HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1393HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428G1378RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1486KSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428G716VSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R841GSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428K889TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428V1360MSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428L1551VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428D1471HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1393HSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428G1378RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1486KSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428G716VSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R841GSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428K889TSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428V1360MSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428L1551VSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428D1471HSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1393HSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428G1378RSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R1486KSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428G716VSwiss-Prot annotated as DiseaseATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428K719TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428L1543PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428A1457TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1379CSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428E1506KSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428R1436QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428G1478RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428K719TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428L1543PSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428A1457TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1379CSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428E1506KSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R1436QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428G1478RSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428L1543PSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428A1457TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1379CSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428E1506KSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R1436QSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428G1478RSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428K719TSwiss-Prot annotated as DiseaseQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428V1360GSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R834CSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428V1572ISwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428D810NSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428V1572ISwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428D810NSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428V1572ISwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428D810NSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428V1572ISwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428D810NSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428S1369ASwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428S1369ASwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428S1369ASwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428S1369ASwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 8 (SulfonylureaDE receptor 1)
Q09428R834CSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428V1360GSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_A1368 SULFONYLUREA RECEPTOR 1
Q09428V1360GSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428R834CSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette transporter sub-family C member 8;AltName: Full=Sulfonylurea receptor 1;
Q09428V1360GSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q09428R834CSwiss-Prot annotated as PolymorphismQ09428_chr11:17378850-17462629_L103V_F156L_L166V_L224P_A255V_V559M_S1368A_V1571I SULFONYLUREA RECEPTOR 1
Q86UK0D2365NSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q86UK0R1514HSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q86UK0N1380SSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0N1380SSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0N1380SSwiss-Prot annotated as DiseaseABCA12 transporter subfamily A
Q86UK0N1380SSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q86UK0G1381ESwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0G1381ESwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0G1381ESwiss-Prot annotated as DiseaseABCA12 transporter subfamily A
Q86UK0G1381ESwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q86UK0E1539KSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0E1539KSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0E1539KSwiss-Prot annotated as DiseaseABCA12 transporter subfamily A
Q86UK0E1539KSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q86UK0D2365NSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0R1514HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0D2365NSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0R1514HSwiss-Prot annotated as DiseaseQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0D2365NSwiss-Prot annotated as DiseaseABCA12 transporter subfamily A
Q86UK0R1514HSwiss-Prot annotated as DiseaseABCA12 transporter subfamily A
Q86UK0R1546CSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 12;AltName: Full=ATP-binding cassette transporter 12;Short=ATP-binding cassette 12;
Q86UK0R1546CSwiss-Prot annotated as PolymorphismQ86UK0_chr2:215999903-216205473_N237H_Q274R_R287G_T777S_E2064K_D2365N ABCA12 transporter subfamily A
Q86UK0R1546CSwiss-Prot annotated as PolymorphismABCA12 transporter subfamily A
Q86UK0R1546CSwiss-Prot annotated as PolymorphismQ86UK0_chr2:215999903-216205473_N2365 ABCA12 transporter subfamily A
Q8IUA7K1306TSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 9;
Q8IUA7K1306TSwiss-Prot annotated as PolymorphismATP-binding cassette sub-family A member 9
Q8IUA7G1356SSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 9;
Q8IUA7G1356SSwiss-Prot annotated as PolymorphismATP-binding cassette sub-family A member 9
Q8IZY2A2045SSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 7;AltName: Full=Macrophage ABC transporter;AltName: Full=Autoantigen SS-N;AltName: Full=ABCA-SSN;
Q8IZY2A2045SSwiss-Prot annotated as PolymorphismATP-binding cassette sub-family A member 7 (Macrophage ABCtransporter) (Autoantigen SS-N) (ABCA-SSN)
Q8IZY2A2045SSwiss-Prot annotated as PolymorphismABC transporter ABCA7
Q8N139N1322SSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 6;
Q8N139N1322SSwiss-Prot annotated as PolymorphismABC transporter ABCA6
Q8N139N610YSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 6;
Q8N139N610YSwiss-Prot annotated as PolymorphismABC transporter ABCA6
Q8WWZ7Q484RSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family A member 5;
Q8WWZ7Q484RSwiss-Prot annotated as PolymorphismQ8WWZ7_chr17:67840804-67907679_L43F_Q93K_A178T_M753V_S832A_M960V_D1260G_K1313R_G1348S
Q8WWZ7Q484RSwiss-Prot annotated as PolymorphismATP-binding cassette A5
Q8WWZ7Q484RSwiss-Prot annotated as PolymorphismQ8WWZ7_chr17:67840804-67907679_S1348
Q92887R768WSwiss-Prot annotated as DiseaseQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887R768WSwiss-Prot annotated as DiseaseQ92887_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
Q92887R768WSwiss-Prot annotated as DiseaseRecName: 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
Q92887Q1382RSwiss-Prot annotated as DiseaseQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887Q1382RSwiss-Prot annotated as DiseaseQ92887_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
Q92887Q1382RSwiss-Prot annotated as DiseaseRecName: 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
Q92887L849RSwiss-Prot annotated as PolymorphismRecName: 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
Q92887I670TSwiss-Prot annotated as PolymorphismQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887I670TSwiss-Prot annotated as PolymorphismQ92887_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
Q92887I670TSwiss-Prot annotated as PolymorphismRecName: 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
Q92887C1515YSwiss-Prot annotated as PolymorphismQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887C1515YSwiss-Prot annotated as PolymorphismQ92887_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
Q92887S789FSwiss-Prot annotated as PolymorphismQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887C1515YSwiss-Prot annotated as PolymorphismRecName: 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
Q92887S789FSwiss-Prot annotated as PolymorphismQ92887_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
Q92887A1450TSwiss-Prot annotated as PolymorphismQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887S789FSwiss-Prot annotated as PolymorphismRecName: 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
Q92887A1450TSwiss-Prot annotated as PolymorphismQ92887_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
Q92887A1450TSwiss-Prot annotated as PolymorphismRecName: 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
Q92887L849RSwiss-Prot annotated as PolymorphismQ92887_chr10:101207189-101275972_S718 CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 1 (MULTIDRUGDE RESISTANCE-ASSOCIATED PROTEIN 2) (CANALICULAR MULTI
Q92887L849RSwiss-Prot annotated as PolymorphismQ92887_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
Q96J65E1191ASwiss-Prot annotated as PolymorphismMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65R723QSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q96J65E1191ASwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65N587YSwiss-Prot annotated as PolymorphismMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65E1191ASwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 12
Q96J65N587YSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65E1191ASwiss-Prot annotated as PolymorphismRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65N587YSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 12
Q96J65E1191ASwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q96J65N587YSwiss-Prot annotated as PolymorphismRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65N587YSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q96J65S1512LSwiss-Prot annotated as PolymorphismMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65S1512LSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65S1512LSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 12
Q96J65S1512LSwiss-Prot annotated as PolymorphismRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65F1349LSwiss-Prot annotated as PolymorphismMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65S1512LSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q96J65F1349LSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65R723QSwiss-Prot annotated as PolymorphismMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65F1349LSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 12
Q96J65R723QSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65F1349LSwiss-Prot annotated as PolymorphismRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65R723QSwiss-Prot annotated as PolymorphismATP-binding cassette transporter sub-family C member 12
Q96J65F1349LSwiss-Prot annotated as PolymorphismQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q96J65R723QSwiss-Prot annotated as PolymorphismRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65G671VSwiss-Prot annotated as UnclassifiedMultidrug resistance-associated protein 9 (ATP-binding cassettetransporter sub-family C member 12)
Q96J65G671VSwiss-Prot annotated as UnclassifiedQ96J65_chr16:47895589-47958295_K894M_T989S_Y1013H_C1117R_F1349L ATP-binding cassette transporter sub-family C member 12
Q96J65G671VSwiss-Prot annotated as UnclassifiedATP-binding cassette transporter sub-family C member 12
Q96J65G671VSwiss-Prot annotated as UnclassifiedRecName: Full=Multidrug resistance-associated protein 9;AltName: Full=ATP-binding cassette transporter sub-family C member 12;
Q96J65G671VSwiss-Prot annotated as UnclassifiedQ96J65_chr16:47895589-47958295_R1117 ATP-binding cassette transporter sub-family C member 12
Q99758Q1591PSwiss-Prot annotated as DiseaseATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter)
Q99758N568DSwiss-Prot annotated as DiseaseRecName: 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;
Q99758N568DSwiss-Prot annotated as DiseaseQ99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR
Q99758N568DSwiss-Prot annotated as DiseaseATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter)
Q99758L1553PSwiss-Prot annotated as DiseaseRecName: 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;
Q99758L1553PSwiss-Prot annotated as DiseaseQ99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR
Q99758L1553PSwiss-Prot annotated as DiseaseATP-binding cassette sub-family A member 3 (ATP-binding cassetteDE transporter 3) (ATP-binding cassette 3) (ABC-C transporter)
Q99758Q1591PSwiss-Prot annotated as DiseaseRecName: 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;
Q99758Q1591PSwiss-Prot annotated as DiseaseQ99758_chr16:2266602-2316391_P1078H ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 3 (ATP-BINDING CASSETTEDE TRANSPORTER 3) (ATP-BINDING CASSETTE 3) (ABC-C TR
Q9H221R263QSwiss-Prot annotated as DiseaseQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221R263QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H221R184HSwiss-Prot annotated as DiseaseQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221R184HSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H221P231TSwiss-Prot annotated as DiseaseQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221P231TSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H221V210MSwiss-Prot annotated as PolymorphismQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221V210MSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H221E238KSwiss-Prot annotated as PolymorphismQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221E238KSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H221A259VSwiss-Prot annotated as PolymorphismQ9H221_chr2:44040728-44079584_D19H_Y54C_T400K_V632A ABCG8
Q9H221A259VSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family G member 8;AltName: Full=Sterolin-2;
Q9H222E146QSwiss-Prot annotated as DiseaseQ9H222_chr2:44014793-44040353_R50C_A478T_Q604E ABCG5 (STEROLIN)
Q9H222E146QSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family G member 5;AltName: Full=Sterolin-1;
Q9NP58R648QSwiss-Prot annotated as PolymorphismQ9NP58_chr2:220277202-220285934_S250C ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 6, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ABC TRANSPORTER 3) (MT-ABC TRAN
Q9NP58R648QSwiss-Prot annotated as PolymorphismRecName: 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
Q9NP58R648QSwiss-Prot annotated as PolymorphismQ9NP58_chr2:220277202-220285934_C250 ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 6, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ABC TRANSPORTER 3) (MT-ABC TRAN
Q9NRK6D545NSwiss-Prot annotated as PolymorphismQ9NRK6_chr1:226615140-226655610_A150S M-ABC2 protein
Q9NRK6D545NSwiss-Prot annotated as PolymorphismATP-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)
Q9NRK6D545NSwiss-Prot annotated as PolymorphismRecName: 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
Q9NUQ8R510HSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family F member 3;
Q9NUQ8R510HSwiss-Prot annotated as PolymorphismQ9NUQ8_chr3:185224909-185232396_P503L_R510H CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUQ8R510HSwiss-Prot annotated as PolymorphismCDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUQ8R510HSwiss-Prot annotated as PolymorphismQ9NUQ8_chr3:185224909-185232396_H510 CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUQ8P503LSwiss-Prot annotated as PolymorphismRecName: Full=ATP-binding cassette sub-family F member 3;
Q9NUQ8P503LSwiss-Prot annotated as PolymorphismQ9NUQ8_chr3:185224909-185232396_P503L_R510H CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUQ8P503LSwiss-Prot annotated as PolymorphismCDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUQ8P503LSwiss-Prot annotated as PolymorphismQ9NUQ8_chr3:185224909-185232396_H510 CDNA FLJ11198 fis, clone PLACE1007697, weakly similar to GCN20DE PROTEIN
Q9NUT2A690GSwiss-Prot annotated as DiseaseATP-binding cassette sub-family B member 8, mitochondrial precursorDE (Mitochondrial ATP-binding cassette 1) (M-ABC1)
Q9NUT2A690GSwiss-Prot annotated as DiseaseQ9NUT2_chr7:150117344-150134174_C577 ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 8, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ATP-BINDING CASSETTE 1) (M-ABC1
Q9NUT2A690GSwiss-Prot annotated as DiseaseRecName: Full=ATP-binding cassette sub-family B member 8, mitochondrial;AltName: Full=Mitochondrial ATP-binding cassette 1;Short=M-ABC1;Flags: Precursor;
Q9NUT2A690GSwiss-Prot annotated as DiseaseQ9NUT2_chr7:150117344-150134174_S56N_V152I_S577C ATP-BINDING CASSETTE, SUB-FAMILY B, MEMBER 8, MITOCHONDRIAL PRECURSORDE (MITOCHONDRIAL ATP-BINDING CASSETTE 1) (M-ABC1
Q9UNQ0Q141KSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0Q141KSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0I206LSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0T316PSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0I206LSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0T316PSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0I206LSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0T316PSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0I206LSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0T316PSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0F208SSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0S248PSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0F208SSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0S248PSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0F208SSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0S248PSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0F208SSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0S248PSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0D296HSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0Q166ESwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0D296HSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0Q166ESwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0D296HSwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0Q166ESwiss-Prot annotated as PolymorphismATP-binding cassette, sub-family G, member 2 (Placenta-specific ATP-DE binding cassette transporter) (Breast cancer resistance protein)
Q9UNQ0D296HSwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0Q166ESwiss-Prot annotated as PolymorphismQ9UNQ0_chr4:89471784-89519542_P248 ATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE
Q9UNQ0Q141KSwiss-Prot annotated as PolymorphismQ9UNQ0_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
Q9UNQ0Q141KSwiss-Prot annotated as PolymorphismATP-BINDING CASSETTE, SUB-FAMILY G, MEMBER 2 (PLACENTA-SPECIFIC ATP-DE BINDING CASSETTE TRANSPORTER) (BREAST CANCER RE