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Last Update: 6/21/2006
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Query results
chromo- some
strand
codon position
alleles
DNA position
gene ID
dbSNP rsID
SwissProt ID
amino acid variants
amino acid position
SVM disease prediction
protein destabi- lization
ligand code
interface domain
interface domain
chr22
+
2
A/G
16365406
-
rs5747211
Q658Z4
RH
130
-
-
h.4.10.1
h.4.10.1
chr22
+
2
A/G
16365406
-
rs5747211
Q658Z4
RH
130
-
-
h.4.10.1
h.4.10.1
chr22
-
1
C/G
16764102
MICAL3
rs11913706
Q7RTP6-2
PA
11
-
helix breaker
-
-
-
chr22
+
2
A/G
16984201
TUBA8
rs2234333
Q9NY65
QR
301
-
buried charge change
-
-
-
chr22
+
2
A/C
17031127
USP18
rs9605539
Q9UMW8
DA
346
-
-
-
-
chr22
-
2
C/T
17275558
PRODH
rs450046
O43272
QR
437
buried charge change
1PE
-
-
chr22
-
1
C/T
17280396
PRODH
rs2870983
O43272
AT
388
-
-
c.1.23.2
a.176.1.1
chr22
-
2
A/G
17280413
PRODH
rs2870984
O43272
TM
382
-
FAD
TRS
c.1.23.2
a.176.1.1
chr22
-
1
A/G
17280453
PRODH
rs3970559
O43272
RC
369
-
-
a.176.1.1
c.1.23.2
chr22
-
2
A/G
17280488
PRODH
rs2904551
O43272
LP
357
destabilizing
-
-
-
chr22
-
1
C/G
17281778
PRODH
rs2870998
O43272
AP
283
helix breaker
-
-
-
chr22
-
3
C/G
17281806
PRODH
rs2870999
O43272
TP
273
helix breaker
-
-
-
chr22
-
1
G/T
17281808
PRODH
rs11703160
O43272
TP
273
-
helix breaker
-
-
-
chr22
-
1
A/G
17419188
DGCR2
rs2854650
P98153
SP
223
-
-
CA
FUC
-
-
chr22
+
1
A/T
17494199
-
rs8140743
Q96PF2
CS
245
destabilizing
-
-
-
chr22
+
1
A/T
17494199
TSSK2
rs8140743
Q96PF2
CS
245
destabilizing
-
-
-
chr22
+
2
C/T
17494305
TSSK2
rs1052763
Q96PF2
TM
280
-
-
d.144.1.7
d.144.1.7
chr22
+
2
C/T
17494305
-
rs1052763
Q96PF2
TM
280
-
-
d.144.1.7
d.144.1.7
chr22
+
2
A/G
17494377
-
rs17853776
Q96PF2
GD
304
-
-
-
-
chr22
+
2
A/G
17494377
TSSK2
rs17853776
Q96PF2
GD
304
-
-
-
-
chr22
-
2
A/G
17558341
CLTCL1
rs1633399
P53675
IT
1394
destabilizing
MSE
-
-
chr22
-
2
A/G
17558341
CLTCL1
rs1633399
P53675-2
IT
1394
destabilizing
MSE
-
-
chr22
-
2
C/T
17604919
CLTCL1
rs5746697
P53675-2
KR
205
-
-
a.118.1.4
b.69.6.1
chr22
-
2
C/T
17604919
CLTCL1
rs5746697
P53675
KR
205
-
-
a.118.1.4
b.69.6.1
chr22
-
1
C/G
17829984
UFD1L
rs17744624
Q92890-2
PA
130
-
helix breaker
-
-
-
chr22
+
1
A/G
18082899
-
rs1043004
Q99719
DN
224
buried charge change
-
-
-
chr22
+
1
A/G
18082899
SEPT5
rs1043004
Q99719
DN
224
buried charge change
-
-
-
chr22
-
1
A/C
18164095
GNB1L
rs2073770
Q9BYB4
WG
239
-
-
-
-
chr22
-
3
A/C
18240238
TXNRD2
rs5746841
Q9NNW7
QH
458
buried charge change
-
-
-
chr22
-
2
A/C/G/T
18242772
TXNRD2
rs1139793
Q9NNW7
IRTK
370
-
destabilizing
-
-
-
chr22
-
2
A/C/G/T
18242772
TXNRD2
rs1139793
Q9NNW7-3
IRTK
274
-
buried charge change
-
-
-
chr22
+
1
G/T
18324817
COMT
rs6267
P21964
AS
72
destabilizing
-
-
-
chr22
+
1
A/G
18324877
COMT
rs13306281
P21964
VM
92
-
SAM
-
-
chr22
+
1
A/G
18324877
COMT
rs13306281
Q9BWC7
VM
3
-
SAM
-
-
chr22
+
2
C/T
18326357
COMT
rs13306279
P21964
PL
199
helix breaker
-
-
-
chr22
+
2
C/T
18326357
COMT
rs13306279
Q9BWC7
PL
110
helix breaker
-
-
-
chr22
+
3
A/G
18326358
COMT
rs769224
P21964
PL
199
helix breaker
-
-
-
chr22
+
3
A/G
18326358
COMT
rs769224
Q9BWC7
PL
110
helix breaker
-
-
-
chr22
+
1
A/G
19085426
ZNF74
rs1042859
Q16587
MV
516
-
-
a.138.1.3
a.138.1.3
chr22
-
2
A/T
19136716
-
rs11541403
Q96KC6
LQ
413
destabilizing
-
-
-
chr22
-
2
A/T
19136716
-
rs11541403
Q96B68
LQ
413
destabilizing
-
-
-
chr22
-
1
A/G
19390300
PIK4CA
rs28385631
P42356
RC
1878
-
-
-
-
chr22
+
2
A/G
19458777
SERPIND1
rs5907
P05546
RH
208
-
-
-
-
chr22
+
2
C/T
19562349
SNAP29
rs5752195
O95721
TI
186
-
-
h.1.15.1
h.1.15.1
chr22
+
1
A/T
19612658
CRKL
rs3180410
P46109
NY
117
-
-
b.34.2.1
b.34.2.1
chr22
-
2
C/T
19688115
-
rs4820723
Q96G36
NS
100
-
-
-
-
chr22
+
1
A/G
19797703
-
rs5993350
Q6ZV63
RW
99
-
-
-
-
chr22
+
3
C/G
20123945
HIC2
rs12628208
Q96JB3-2
IM
51
-
-
-
d.42.1.1
d.42.1.1
chr22
+
3
C/G
20123945
HIC2
rs12628208
Q96JB3
IM
69
-
-
d.42.1.1
d.42.1.1
chr22
-
1
A/G
20155604
-
rs2629350
Q8WUK7
RC
441
-
-
-
-
chr22
-
1
A/G
20155604
-
rs2629350
Q6ICJ0
CR
423
buried charge change
-
-
-
chr22
-
1
C/G
20161914
-
rs2930770
Q8N8J0
QE
223
-
-
-
-
chr22
-
2
C/T
20162893
-
rs377287
Q8WUK7
EG
239
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs377287
Q8N8J0
EG
201
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs17856602
Q8WUK7
EG
239
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs377287
Q6ZT68
EG
201
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs17856602
Q8N8J0
EG
201
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs377287
Q6ICJ0
EG
201
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs17856602
Q6ZT68
EG
201
buried charge change
-
-
-
chr22
-
2
C/T
20162893
-
rs17856602
Q6ICJ0
EG
201
buried charge change
-
-
-
chr22
-
2
A/C
20162959
-
rs2508168
Q6ZT68
LR
179
buried charge change
-
-
-
chr22
-
2
A/C
20162959
-
rs2508168
Q6ICJ0
LR
179
destabilizing
-
-
-
chr22
-
2
A/C
20162959
-
rs2508168
Q8WUK7
LR
217
destabilizing
-
-
-
chr22
-
3
C/G
20225017
-
rs9621645
Q8IYP7
DE
764
-
-
-
-
chr22
-
1
G/T
20225214
-
rs9618840
Q9UFD9
HN
993
-
-
-
-
chr22
-
1
G/T
20225214
-
rs9618840
Q9UFD9
HN
993
-
-
-
-
chr22
-
1
C/T
20225283
-
rs469096
Q9UFD9
RC
970
desolubilizing
-
-
-
chr22
-
1
C/T
20225283
-
rs469096
Q9UFD9
RC
970
desolubilizing
-
-
-
chr22
-
1
C/T
20225283
-
rs469096
Q8IYP7
CR
676
-
-
-
b.34.2.1
b.34.2.1
chr22
-
1
C/T
20226183
-
rs9618841
Q8IYP7
VI
376
-
-
b.1.2.1
b.1.2.1
chr22
-
1
C/T
20226183
-
rs9618841
Q9UFD9
VI
670
-
-
b.1.2.1
b.1.2.1
chr22
-
1
C/T
20226183
-
rs9618841
Q9UFD9
VI
670
-
-
b.1.2.1
b.1.2.1
chr22
-
1
C/T
20226636
-
rs468896
Q9UFD9
RW
519
-
-
b.1.2.1
b.1.2.1
chr22
-
1
C/T
20226636
-
rs468896
Q8IYP7
RW
225
-
-
b.1.2.1
b.1.2.1
chr22
-
1
C/T
20226636
-
rs468896
Q9UFD9
RW
519
-
-
b.1.2.1
b.1.2.1
chr22
-
2
C/T
20226659
-
rs468890
Q9UFD9
AV
511
-
-
b.1.2.1
b.1.2.1
chr22
-
2
C/T
20226659
-
rs468890
Q8IYP7
AV
217
-
-
b.1.2.1
b.1.2.1
chr22
-
2
C/T
20226659
-
rs468890
Q9UFD9
AV
511
-
-
b.1.2.1
b.1.2.1
chr22
-
2
C/T
20226767
-
rs5998410
Q9UFD9
HR
475
destabilizing
-
-
-
chr22
-
2
C/T
20226767
-
rs5998410
Q9UFD9
HR
475
destabilizing
-
-
-
chr22
-
2
C/T
20226767
-
rs5998410
Q8IYP7
HR
181
destabilizing
-
-
-
chr22
-
1
C/G
20227821
-
rs3804068
Q9UFD9
GR
124
buried charge change
-
-
-
chr22
-
1
C/G
20227821
-
rs3804068
Q9UFD9
GR
124
buried charge change
-
-
-
chr22
+
1
C/T
20321812
SDF2L1
rs11555533
Q9HCN8
RC
99
-
-
-
-
chr22
-
2
C/G
20604507
PPM1F
rs4050961
P49593
SC
325
-
-
-
-
chr22
+
1
C/G
20875004
IGLV6-57
rs2073447
Q6PJ28
RG
43
-
buried charge change
-
-
-
chr22
+
1
A/C
20875061
IGLV6-57
rs17852161
Q6PJ28
RS
62
-
-
b.1.1.1
b.1.1.1
chr22
+
1
G/T
20875064
IGLV6-57
rs2073448
Q6PJ28
AS
63
-
-
b.1.1.1
b.1.1.1
chr22
+
1
G/T
20875064
IGLV6-57
rs17858678
Q6PJ28
AS
63
-
-
b.1.1.1
b.1.1.1
chr22
+
1
G/T
20875064
IGLV6-57
rs17845728
Q6PJ28
AS
63
-
-
b.1.1.1
b.1.1.1
chr22
+
2
A/G
20875314
IGLV6-57
rs5757323
Q6PJ28
RQ
146
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
20875314
IGLV6-57
rs17858679
Q6PJ28
RQ
146
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
20875314
IGLV6-57
rs17845729
Q6PJ28
RQ
146
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G
20924091
VPREB1
rs1320
P12018
DN
76
-
ZN
-
-
chr22
+
2
C/T
20924230
VPREB1
rs11089979
P12018
SL
122
-
-
-
b.1.1.1
b.1.1.1
chr22
+
1
A/G
20924259
VPREB1
rs5995720
P12018
EK
132
-
-
-
b.1.1.1
b.1.1.1
chr22
+
1
C/T
21048902
-
rs9619971
Q5CZ94
RW
82
buried charge change
-
-
-
chr22
+
2
C/G
21354080
-
rs3205084
Q8TBC9
GA
43
-
-
-
-
chr22
+
1
C/G
21354142
-
rs5751507
Q8TBC9
LV
64
-
-
b.1.1.1
b.1.1.1
chr22
+
2
A/G
21354281
-
rs17592509
Q8TBC9
DG
110
-
buried charge change
-
b.1.1.1
b.1.1.1
chr22
+
2
C/G
21354290
-
rs2073913
Q8TBC9
GA
113
-
-
b.1.1.2
b.1.1.1
chr22
+
2
G/T
21365321
-
rs5751516
Q6P2J1
VG
72
-
-
-
-
chr22
+
2
A/G
21365441
-
rs5759376
Q6P2J1
YC
112
-
-
b.1.1.1
b.1.1.1
chr22
+
1
G/T
21380093
-
rs1985791
Q6NS95
YD
68
-
-
b.1.1.1
b.1.1.1
chr22
+
2
A/G
21562202
-
rs11558662
Q5CZ94
DG
160
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
21562202
-
rs11558662
Q6GMW4
DG
159
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
21562202
-
rs11558662
Q6NS95
DG
160
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
21562202
-
rs11558662
Q6P2J1
DG
161
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/G
21562202
-
rs11558662
Q96E61
DG
162
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21562358
-
rs11558639
Q5CZ94
SN
212
destabilizing
-
-
-
chr22
+
2
C/T
21562358
-
rs11558639
Q6GMW4
SN
211
destabilizing
-
-
-
chr22
+
2
C/T
21562358
-
rs11558639
Q6P2J1
SN
213
-
destabilizing
-
-
-
chr22
+
2
C/T
21562358
-
rs11558639
Q96E61
SN
214
destabilizing
-
-
-
chr22
+
1
A/C
21562390
-
rs3209693
Q6GMW4
TP
222
-
-
b.1.1.1
b.1.1.2
chr22
+
1
A/G/T
21562414
-
rs28477498
Q5CZ94
TAS
231
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21562414
-
rs28477498
Q6GMW4
TAS
230
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21562414
-
rs28477498
Q6NS95
TAS
231
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21562414
-
rs28477498
Q6P2J1
TAS
232
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21562414
-
rs28477498
Q96E61
TAS
233
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/C
21567874
-
rs1062371
Q6PJR7
TP
89
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/C
21567878
-
rs1061567
Q6PJR7
TKN
90
-
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/C
21567879
-
rs1065046
Q6PJR7
TKN
90
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21567908
-
rs8307
Q6PJR7
AV
100
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21567920
-
rs1984706
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21567921
-
rs17353490
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs17852493
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs8033
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs17851781
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs17854884
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs17850880
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21567921
-
rs17853047
Q6PJR7
YF
104
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21568015
-
rs1059141
Q6PJR7
TAS
136
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G
21573176
-
rs15793
Q8TBC9
VM
165
-
-
b.1.1.1
b.1.1.2
chr22
+
1
A/C
21573230
-
rs1062371
Q8TCJ5
TP
56
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/C
21573230
-
rs1062371
Q8TCJ5
TP
56
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/C
21573230
-
rs1062371
Q8TBC9
TP
183
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/C
21573230
-
rs1062371
Q8TCJ5
TP
56
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/C
21573230
IGLC1
rs1062371
P01842
TP
55
-
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/C
21573234
-
rs16994614
Q8TBC9
TKN
184
-
-
b.1.1.2
b.1.1.1
chr22
+
2
A/C
21573234
-
rs1061567
Q8TBC9
TKN
184
-
-
-
b.1.1.2
b.1.1.1
chr22
+
3
A/C
21573235
-
rs1065046
Q8TBC9
TKN
184
-
-
b.1.1.2
b.1.1.1
chr22
+
2
C/T
21573264
-
rs8307
Q8TCJ5
AV
67
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21573264
-
rs8307
Q8TCJ5
AV
67
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21573264
-
rs8307
Q8TBC9
AV
194
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21573264
-
rs8307
Q8TCJ5
AV
67
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21573264
IGLC1
rs8307
P01842
AV
66
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21573276
-
rs1984706
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21573276
-
rs1984706
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21573276
IGLC1
rs1984706
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21573276
-
rs1984706
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
2
A/T
21573276
-
rs1984706
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17853047
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21573277
-
rs17353490
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17851781
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17853047
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21573277
-
rs17353490
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs17853047
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17850880
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17852493
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17854884
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21573277
IGLC1
rs17353490
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17852493
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17851781
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17853047
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs8033
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs17852493
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs8033
Q8TBC9
YF
198
-
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21573277
-
rs17353490
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17852493
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17854884
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17851781
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs8033
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17850880
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17853047
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs8033
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs17851781
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17854884
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
A/G
21573277
-
rs17353490
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17851781
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17854884
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17850880
Q8TBC9
YF
198
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs17854884
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17850880
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs17852493
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
-
rs8033
Q8TCJ5
YF
71
-
-
b.1.1.2
b.1.1.2
chr22
+
3
C/T
21573277
IGLC1
rs17850880
P01842
YF
70
-
-
b.1.1.2
b.1.1.2
chr22
+
2
C/T
21573315
-
rs11558639
Q8TCJ5
SN
84
destabilizing
-
-
-
chr22
+
2
C/T
21573315
-
rs11558639
Q8TCJ5
SN
84
destabilizing
-
-
-
chr22
+
2
C/T
21573315
IGLC1
rs11558639
P01842
SN
83
-
destabilizing
-
-
-
chr22
+
2
C/T
21573315
-
rs11558639
Q8TCJ5
SN
84
destabilizing
-
-
-
chr22
+
1
A/G/T
21573371
-
rs1059141
Q8TCJ5
TAS
103
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21573371
-
rs1059141
Q8TCJ5
TAS
103
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21573371
-
rs1059141
Q8TBC9
TAS
230
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21573371
IGLC1
rs1059141
P01842
TAS
102
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G/T
21573371
-
rs1059141
Q8TCJ5
TAS
103
-
-
-
b.1.1.2
b.1.1.2
chr22
+
1
G/T
21762629
GNAZ
rs17853741
P19086
AS
64
destabilizing
-
a.66.1.1
c.37.1.8
chr22
+
2
A/C
21762840
GNAZ
rs17852409
P19086
PQ
134
helix breaker
-
-
-
chr22
+
2
A/C
21928202
BCR
rs4437065
P11274
KT
558
-
MSE
-
-
chr22
+
2
A/G
21951923
BCR
rs140504
P11274
SN
796
destabilizing
-
-
-
chr22
+
1
C/T
21977101
BCR
rs16999516
P11274
EK
1037
buried charge change
-
-
-
chr22
-
3
A/C/G
22240055
IGLL1
rs1064418
P15814
HQ
198
buried charge change
-
-
-
chr22
-
2
A/G
22240128
IGLL1
rs1064419
P15814
AV
174
-
-
b.1.1.2
b.1.1.2
chr22
-
2
C/T
22240137
IGLL1
rs1064421
P15814
NS
171
-
-
b.1.1.1
b.1.1.2
chr22
-
2
A/G
22240224
IGLL1
rs1064422
P15814
PL
142
-
-
-
-
chr22
-
2
A/G
22240290
IGLL1
rs1064425
P15814
PL
120
-
-
b.1.1.2
b.1.1.2
chr22
+
1
A/G
22360692
-
rs17003398
Q8IZJ4
EK
297
buried charge change
-
-
-
chr22
+
2
G/T
22361699
-
rs2070449
Q6ZN78
MR
342
buried charge change
-
-
-
chr22
+
2
C/T
22447385
MMP11
rs17854940
P24347
FS
182
destabilizing
-
-
-
chr22
+
1
C/T
22561579
MIF
rs1049829
P14174
LF
58
-
-
d.80.1.3
d.80.1.3
chr22
+
2
C/T
22561607
MIF
rs11548056
P14174
IT
67
destabilizing
-
d.80.1.3
d.80.1.3
chr22
-
1
G/T
22640557
DDT
rs3865756
P30046
HN
79
-
-
d.80.1.3
d.80.1.3
chr22
+
2
C/T
22649375
-
rs17415407
Q6ICJ4
SL
68
-
-
a.45.1.1
c.47.1.5
chr22
+
2
C/T
22649375
GSTT2
rs17415407
P30712
SL
67
-
-
a.45.1.1
c.47.1.5
chr22
+
1
C/T
22649616
GSTT2
rs2301423
P30712
VM
117
-
-
a.45.1.1
c.47.1.5
chr22
+
1
C/T
22649616
-
rs2301423
Q6ICJ4
VM
118
-
-
a.45.1.1
c.47.1.5
chr22
-
1
A/G
22701387
GSTT1
rs2234953
P30711
EK
172
destabilizing
-
-
-
chr22
-
1
A/C
22703956
GSTT1
rs11550605
P30711
TP
103
helix breaker
-
-
-
chr22
-
1
A/G
22708725
GSTT1
rs2266635
P30711
AT
20
destabilizing
-
-
-
chr22
+
1
A/G
22759419
-
rs5760185
Q6PHY0
AT
56
destabilizing
-
-
-
chr22
+
1
A/G
22771842
-
rs12159292
Q9Y6J0
DN
220
-
-
-
-
chr22
+
2
A/G
23161671
ADORA2A
rs4990
P29274
RH
300
-
PLY
-
-
chr22
-
1
C/T
23448865
PIWIL3
rs738826
Q7Z3Z3
RC
589
desolubilizing
-
-
-
chr22
-
1
C/T
23470307
PIWIL3
rs1475853
Q7Z3Z3
PS
375
-
-
-
-
chr22
+
1
G/T
23948393
CRYBB2
rs16986560
P43320
AS
64
destabilizing
-
-
-
chr22
+
1
C/T
24038707
-
rs28520031
Q5JZ85
HY
56
-
-
b.1.1.1
b.1.1.1
chr22
+
2
C/G
24038774
-
rs7291910
Q5JZ85
PR
78
destabilizing
-
-
-
chr22
+
2
A/G
24040477
-
rs28391315
Q5JZ85
SN
182
-
-
b.1.1.1
b.1.1.2
chr22
+
1
C/T
24040485
-
rs1064420
Q5JZ85
MV
185
-
-
b.1.1.2
b.1.1.2
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References