Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
189
..
189
|
C/T |
rs181706898
|
- |
5'UTR |
|
307
..
307
|
C/G |
rs190449822
|
- |
5'UTR |
|
375
..
375
|
G/A |
rs2613842
|
+ |
5'UTR |
|
443
..
443
|
A/G |
rs202192239
|
- |
CDS |
Nonsynonymous[Glu17Gly] |
468
..
468
|
G/A |
rs142535919
|
- |
CDS |
Synonymous[Thr25Thr] |
471
..
471
|
G/A |
rs113800664
|
- |
CDS |
Synonymous[Glu26Glu] |
503
..
503
|
C/T/A |
rs138047753
|
- |
CDS |
|
532
..
532
|
C/G |
rs115090201
|
- |
CDS |
Nonsynonymous[Arg47Gly] |
661
..
661
|
G/A |
rs143584496
|
- |
CDS |
Nonsynonymous[Glu90Lys] |
685
..
685
|
C/T |
rs149325913
|
- |
CDS |
Synonymous[Leu98Leu] |
687
..
687
|
G/A |
rs138354625
|
- |
CDS |
Synonymous[Leu98Leu] |
705
..
705
|
C/T |
rs744389
|
+ |
CDS |
Synonymous[Thr104Thr] |
759
..
759
|
G/T |
rs142003722
|
- |
CDS |
Synonymous[Pro122Pro] |
844
..
844
|
G/A |
rs142436391
|
- |
CDS |
Nonsynonymous[Ala151Thr] |
868
..
868
|
G/A |
rs149219327
|
- |
CDS |
Nonsynonymous[Glu159Lys] |
870
..
870
|
G/A |
rs4803335
|
- |
CDS |
Synonymous[Glu159Glu] |
898
..
898
|
C/T |
rs10425452
|
- |
CDS |
Nonsynonymous[Arg169Cys] |
953
..
953
|
G/A |
rs76756143
|
- |
CDS |
Nonsynonymous[Arg187His] |
979
..
979
|
C/T |
rs45521038
|
- |
CDS |
Nonsynonymous[Arg196Cys] |
985
..
985
|
C/T |
rs104894706
|
+ |
CDS |
AA-STOP[Arg198*] |
996
..
996
|
C/T |
rs144157275
|
- |
CDS |
Synonymous[Ala201Ala] |
1030
..
1030
|
G/A |
rs112973322
|
- |
CDS |
Nonsynonymous[Ala213Thr] |
1117
..
1117
|
C/T |
rs199863083
|
- |
CDS |
Nonsynonymous[Arg242Trp] |
1118
..
1118
|
G/A |
rs77917609
|
- |
CDS |
Nonsynonymous[Arg242Gln] |
1120
..
1120
|
C/T |
rs190395669
|
- |
CDS |
Synonymous[Leu243Leu] |
1130
..
1130
|
C/T |
rs118071705
|
- |
CDS |
Nonsynonymous[Ala246Val] |
1146
..
1146
|
C/T |
rs3814289
|
+ |
CDS |
Synonymous[Pro251Pro] |
1222
..
1222
|
C/A |
rs200033507
|
- |
CDS |
Nonsynonymous[Leu277Ile] |
1251
..
1251
|
G/A |
rs112084793
|
- |
CDS |
Synonymous[Glu286Glu] |
1291
..
1291
|
C/T |
rs185112635
|
- |
CDS |
Nonsynonymous[Pro300Ser] |
1365
..
1365
|
G/T |
rs139544245
|
- |
CDS |
Synonymous[Val324Val] |
1392
..
1392
|
G/A |
rs146323928
|
- |
CDS |
Synonymous[Pro333Pro] |
1393
..
1393
|
A/G |
rs143710873
|
- |
CDS |
Nonsynonymous[Thr334Ala] |
1418
..
1418
|
C/T |
rs139260704
|
- |
CDS |
Nonsynonymous[Pro342Leu] |
1425
..
1425
|
A/C |
rs150772010
|
- |
CDS |
Synonymous[Ala344Ala] |
1439
..
1439
|
G/A |
rs141288626
|
- |
CDS |
Nonsynonymous[Arg349Gln] |
1450
..
1450
|
C/T |
rs73933276
|
- |
CDS |
Nonsynonymous[Pro353Ser] |
1479
..
1479
|
T/C |
rs199882125
|
- |
CDS |
Synonymous[Leu362Leu] |
1489
..
1489
|
C/T |
rs144183238
|
- |
CDS |
AA-STOP[Arg366*] |
1499
..
1499
|
C/A |
rs143400291
|
- |
CDS |
Nonsynonymous[Ala369Asp] |
1501
..
1501
|
C/T |
rs104894715
|
+ |
CDS |
AA-STOP[Arg370*] |
1512
..
1512
|
A/G |
rs137930942
|
- |
CDS |
Synonymous[Glu373Glu] |
1590
..
1590
|
G/T |
rs200244689
|
- |
CDS |
Synonymous[Gly399Gly] |
1610
..
1610
|
G/A |
rs146948818
|
- |
CDS |
Nonsynonymous[Arg406Gln] |
1613
..
1613
|
C/T |
rs141239550
|
- |
CDS |
Nonsynonymous[Pro407Leu] |
1615
..
1615
|
G/A |
rs117336941
|
- |
CDS |
Nonsynonymous[Ala408Thr] |
1621
..
1621
|
C/T |
rs150244426
|
- |
CDS |
Nonsynonymous[Pro410Ser] |
1668
..
1668
|
C/G |
rs201031197
|
- |
CDS |
Synonymous[Pro425Pro] |
1680
..
1680
|
C/T |
rs76960467
|
- |
CDS |
Synonymous[Ile429Ile] |
1681
..
1681
|
G/A |
rs151110565
|
- |
CDS |
Nonsynonymous[Gly430Arg] |
1732
..
1732
|
C/G |
rs201044009
|
- |
CDS |
Nonsynonymous[Pro447Ala] |
1768
..
1768
|
G/A |
rs142064826
|
- |
CDS |
Nonsynonymous[Glu459Lys] |
1796
..
1796
|
C/T |
rs144530674
|
- |
CDS |
Nonsynonymous[Pro468Leu] |
1860
..
1860
|
G/A |
rs140474860
|
- |
CDS |
Synonymous[Pro489Pro] |
1882
..
1882
|
G/C |
rs146789340
|
- |
CDS |
Nonsynonymous[Glu497Gln] |
1899
..
1899
|
A/G |
rs143643767
|
- |
CDS |
Synonymous[Ser502Ser] |
1909
..
1909
|
C/T |
rs192607896
|
- |
CDS |
Nonsynonymous[Leu506Phe] |
1937
..
1937
|
C/T |
rs148742209
|
- |
CDS |
Nonsynonymous[Pro515Leu] |
1938
..
1938
|
G/A |
rs187786861
|
- |
CDS |
Synonymous[Pro515Pro] |
1945
..
1945
|
C/T |
rs144305922
|
- |
CDS |
Nonsynonymous[Arg518Trp] |
1960
..
1960
|
C/G |
rs200483634
|
- |
CDS |
Nonsynonymous[Gln523Glu] |
1973
..
1973
|
T/C |
rs149715830
|
- |
CDS |
Nonsynonymous[Val527Ala] |
2023
..
2023
|
C/T |
rs201337455
|
- |
CDS |
Nonsynonymous[Arg544Trp] |
2024
..
2024
|
G/A |
rs139586219
|
- |
CDS |
Nonsynonymous[Arg544Gln] |
2045
..
2045
|
C/T |
rs150582069
|
- |
CDS |
Nonsynonymous[Pro551Leu] |
2046
..
2046
|
G/A |
rs202113722
|
- |
CDS |
Synonymous[Pro551Pro] |
2050
..
2050
|
G/A |
rs61733448
|
- |
CDS |
Nonsynonymous[Val553Met] |
2059
..
2059
|
A/G |
rs199629485
|
- |
CDS |
Nonsynonymous[Met556Val] |
2076
..
2076
|
G/A |
rs137865843
|
- |
CDS |
Synonymous[Val561Val] |
2115
..
2115
|
G/A |
rs184025564
|
- |
CDS |
Synonymous[Val574Val] |
2123
..
2123
|
C/T |
rs201829675
|
- |
CDS |
Nonsynonymous[Pro577Leu] |
2150
..
2150
|
A/G |
rs113515574
|
- |
CDS |
Nonsynonymous[Glu586Gly] |
2166
..
2166
|
G/A |
rs147353593
|
- |
CDS |
Synonymous[Lys591Lys] |
2190
..
2190
|
G/C |
rs142723812
|
- |
CDS |
Nonsynonymous[Glu599Asp] |
2196
..
2196
|
A/T |
rs148217965
|
- |
CDS |
Nonsynonymous[Lys601Asn] |
2278
..
2278
|
C/T |
rs199950689
|
- |
CDS |
Nonsynonymous[Pro629Ser] |
2289
..
2289
|
G/A |
rs191737633
|
- |
CDS |
Synonymous[Lys632Lys] |
2299
..
2299
|
A/G |
rs201204029
|
- |
CDS |
Nonsynonymous[Met636Val] |
2350
..
2350
|
G/A |
rs3814290
|
+ |
CDS |
Nonsynonymous[Asp653Asn] |
2363
..
2363
|
C/T |
rs118003416
|
- |
CDS |
Nonsynonymous[Pro657Leu] |
2364
..
2364
|
G/A |
rs186171971
|
- |
CDS |
Synonymous[Pro657Pro] |
2386
..
2386
|
C/T |
rs149183991
|
- |
CDS |
Nonsynonymous[Pro665Ser] |
2416
..
2416
|
A/G |
rs61735531
|
- |
CDS |
Nonsynonymous[Met675Val] |
2435
..
2435
|
G/A |
rs145856805
|
- |
CDS |
Nonsynonymous[Arg681Gln] |
2439
..
2439
|
C/T |
rs140717633
|
- |
CDS |
Synonymous[Leu682Leu] |
2442
..
2442
|
C/T |
rs56743160
|
- |
CDS |
Synonymous[Pro683Pro] |
2485
..
2485
|
G/C |
rs187194280
|
- |
CDS |
Nonsynonymous[Val698Leu] |
2500
..
2500
|
G/A |
rs116855701
|
- |
CDS |
Nonsynonymous[Val703Met] |
2505
..
2505
|
C/T |
rs183461864
|
- |
CDS |
Synonymous[Pro704Pro] |
2505
^
2506
|
-/T |
rs34398735
|
- |
CDS |
|
2544
..
2544
|
T/A |
rs104894707
|
+ |
CDS |
AA-STOP[Cys717*] |
2613
^
2614
|
-/C |
rs34348338
|
- |
CDS |
|
2624
..
2624
|
T/C |
rs199931409
|
- |
CDS |
Nonsynonymous[Leu744Pro] |
2628
..
2628
|
C/T |
rs144975214
|
- |
CDS |
Synonymous[Pro745Pro] |
2628
^
2629
|
-/C |
rs35735227
|
- |
CDS |
|
2642
..
2642
|
C/T |
rs111252437
|
- |
CDS |
Nonsynonymous[Pro750Leu] |
2653
..
2653
|
G/A |
rs147587689
|
- |
CDS |
Nonsynonymous[Glu754Lys] |
2684
..
2684
|
A/G |
rs202165534
|
- |
CDS |
Nonsynonymous[Lys764Arg] |
2689
..
2689
|
C/T |
rs142884199
|
- |
CDS |
Nonsynonymous[Pro766Ser] |
2691
..
2691
|
C/G |
rs142637195
|
- |
CDS |
Synonymous[Pro766Pro] |
2706
..
2706
|
G/A |
rs148655811
|
- |
CDS |
Synonymous[Pro771Pro] |
2739
..
2739
|
G/A |
rs147618050
|
- |
CDS |
Synonymous[Pro782Pro] |
2824
..
2824
|
C/T |
rs145272609
|
- |
CDS |
Synonymous[Leu811Leu] |
2839
..
2839
|
T/C |
rs201809431
|
- |
CDS |
Nonsynonymous[Ser816Pro] |
2847
..
2847
|
A/G |
rs139765804
|
- |
CDS |
Synonymous[Ser818Ser] |
2848
..
2848
|
C/T |
rs147441856
|
- |
CDS |
Nonsynonymous[Arg819Cys] |
2849
..
2849
|
G/A |
rs149241078
|
- |
CDS |
Nonsynonymous[Arg819His] |
2868
..
2868
|
G/A |
rs61733450
|
- |
CDS |
Synonymous[Ala825Ala] |
2893
..
2893
|
G/C |
rs116139153
|
- |
CDS |
Nonsynonymous[Val834Leu] |
2947
..
2947
|
C/G |
rs141686828
|
- |
CDS |
Nonsynonymous[Pro852Ala] |
2992
..
2992
|
C/G |
rs148127181
|
- |
CDS |
Nonsynonymous[Leu867Val] |
3011
..
3011
|
T/C |
rs201389706
|
- |
CDS |
Nonsynonymous[Val873Ala] |
3019
..
3019
|
G/A |
rs145790961
|
- |
CDS |
Nonsynonymous[Ala876Thr] |
3034
..
3034
|
G/A |
rs148451350
|
- |
CDS |
Nonsynonymous[Gly881Arg] |
3044
..
3044
|
C/T |
rs268671
|
+ |
CDS |
Nonsynonymous[Ala884Val] |
3050
..
3050
|
G/A |
rs139005780
|
- |
CDS |
Nonsynonymous[Gly886Asp] |
3054
..
3054
|
C/T |
rs268672
|
+ |
CDS |
Synonymous[Pro887Pro] |
3076
..
3076
|
G/A |
rs201270794
|
- |
CDS |
Nonsynonymous[Glu895Lys] |
3114
..
3114
|
C/A |
rs188765166
|
- |
CDS |
Synonymous[Thr907Thr] |
3126
..
3126
|
C/T |
rs61735546
|
- |
CDS |
Synonymous[Pro911Pro] |
3127
..
3127
|
G/A |
rs145203783
|
- |
CDS |
Nonsynonymous[Ala912Thr] |
3148
..
3148
|
C/T |
rs144639467
|
- |
CDS |
Nonsynonymous[Arg919Trp] |
3162
..
3162
|
A/G |
rs268673
|
+ |
CDS |
Nonsynonymous[Ile923Met] |
3174
..
3174
|
C/T |
rs201792838
|
- |
CDS |
Synonymous[Val927Val] |
3177
..
3177
|
G/A |
rs140500272
|
- |
CDS |
Synonymous[Lys928Lys] |
3216
..
3216
|
G/A |
rs112544351
|
- |
CDS |
Synonymous[Ser941Ser] |
3230
..
3230
|
C/G |
rs199734816
|
- |
CDS |
Nonsynonymous[Ala946Gly] |
3231
..
3231
|
T/C |
rs145226687
|
- |
CDS |
Synonymous[Ala946Ala] |
3236
..
3236
|
C/T |
rs139700059
|
- |
CDS |
Nonsynonymous[Ala948Val] |
3247
..
3247
|
G/A |
rs147842738
|
- |
CDS |
Nonsynonymous[Gly952Arg] |
3256
..
3256
|
C/T |
rs104894714
|
+ |
CDS |
AA-STOP[Arg955*] |
3342
..
3342
|
G/A |
rs142228732
|
- |
CDS |
Synonymous[Gly983Gly] |
3356
..
3356
|
T/A |
rs200424895
|
- |
CDS |
Nonsynonymous[Leu988Gln] |
3413
..
3413
|
G/- |
rs34766564
|
- |
CDS |
|
3474
..
3474
|
G/C |
rs62109486
|
- |
CDS |
Nonsynonymous[Lys1027Asn] |
3509
..
3509
|
A/G |
rs148600818
|
- |
CDS |
Nonsynonymous[Glu1039Gly] |
3512
..
3512
|
T/C |
rs143873932
|
- |
CDS |
Nonsynonymous[Leu1040Pro] |
3521
..
3521
|
G/T |
rs149469526
|
- |
CDS |
Nonsynonymous[Gly1043Val] |
3544
..
3544
|
G/A |
rs186086914
|
- |
CDS |
Nonsynonymous[Gly1051Ser] |
3585
..
3585
|
G/T |
rs139188673
|
- |
CDS |
Nonsynonymous[Lys1064Asn] |
3589
..
3589
|
T/C |
rs139125398
|
- |
CDS |
Nonsynonymous[Ser1066Pro] |
3598
..
3598
|
G/A |
rs268674
|
+ |
CDS |
Nonsynonymous[Gly1069Arg] |
3624
..
3624
|
C/T |
rs141297733
|
- |
CDS |
Synonymous[Asp1077Asp] |
3626
..
3626
|
C/T |
rs201233076
|
- |
CDS |
Nonsynonymous[Ala1078Val] |
3657
..
3657
|
C/T |
rs201535844
|
- |
CDS |
Synonymous[Ser1088Ser] |
3678
..
3678
|
C/T |
rs200133532
|
- |
CDS |
Synonymous[Thr1095Thr] |
3700
..
3700
|
C/T |
rs147826200
|
- |
CDS |
Nonsynonymous[Pro1103Ser] |
3701
..
3701
|
C/T |
rs200659664
|
- |
CDS |
Nonsynonymous[Pro1103Leu] |
3756
..
3756
|
G/A |
rs201603024
|
- |
CDS |
Synonymous[Arg1121Arg] |
3775
..
3775
|
A/T |
rs199948451
|
- |
CDS |
Nonsynonymous[Thr1128Ser] |
3784
..
3784
|
C/G |
rs149732789
|
- |
CDS |
Nonsynonymous[Leu1131Val] |
3791
..
3791
|
G/C |
rs199640290
|
- |
CDS |
Nonsynonymous[Gly1133Ala] |
3860
..
3860
|
C/T |
rs201393544
|
- |
CDS |
Nonsynonymous[Pro1156Leu] |
3877
..
3877
|
G/A |
rs140880177
|
- |
CDS |
Nonsynonymous[Val1162Met] |
3906
..
3906
|
C/T |
rs139950446
|
- |
CDS |
Synonymous[Gly1171Gly] |
3911
..
3911
|
C/T |
rs142501082
|
- |
CDS |
Nonsynonymous[Ala1173Val] |
3912
..
3912
|
G/A |
rs202119177
|
- |
CDS |
Synonymous[Ala1173Ala] |
3926
..
3926
|
G/A |
rs139120811
|
- |
CDS |
Nonsynonymous[Gly1178Asp] |
3950
..
3950
|
C/A |
rs180852222
|
- |
CDS |
Nonsynonymous[Thr1186Lys] |
3973
..
3973
|
G/A |
rs200332462
|
- |
CDS |
Nonsynonymous[Gly1194Arg] |
4006
..
4006
|
G/- |
rs35810126
|
- |
CDS |
|
4006
..
4006
|
G/C |
rs146061247
|
- |
CDS |
Nonsynonymous[Ala1205Pro] |
4042
..
4042
|
G/C |
rs146205352
|
- |
CDS |
Nonsynonymous[Glu1217Gln] |
4050
..
4050
|
G/A |
rs143289108
|
- |
CDS |
Synonymous[Ser1219Ser] |
4098
..
4098
|
A/T |
rs202219076
|
- |
CDS |
Synonymous[Gly1235Gly] |
4143
..
4143
|
G/A |
rs140109585
|
- |
CDS |
Synonymous[Leu1250Leu] |
4148
..
4148
|
G/A |
rs185914183
|
- |
CDS |
Nonsynonymous[Arg1252Gln] |
4151
..
4151
|
C/T |
rs142762689
|
- |
CDS |
Nonsynonymous[Ala1253Val] |
4164
..
4164
|
C/T |
rs149626915
|
- |
CDS |
Synonymous[Ala1257Ala] |
4209
..
4209
|
A/G |
rs200139733
|
- |
CDS |
Synonymous[Arg1272Arg] |
4248
..
4248
|
G/C |
rs76088917
|
- |
CDS |
Synonymous[Gly1285Gly] |
4261
..
4261
|
G/A |
rs150914430
|
- |
CDS |
Nonsynonymous[Glu1290Lys] |
4334
..
4334
|
G/A |
rs200835105
|
- |
CDS |
Nonsynonymous[Arg1314His] |
4343
..
4343
|
G/A |
rs142978341
|
- |
CDS |
Nonsynonymous[Arg1317His] |
4355
..
4355
|
C/T |
rs201618230
|
- |
CDS |
Nonsynonymous[Ala1321Val] |
4411
..
4411
|
G/A |
rs139051512
|
- |
CDS |
Nonsynonymous[Val1340Ile] |
4423
..
4423
|
T/G |
rs146468976
|
- |
CDS |
Nonsynonymous[Ser1344Ala] |
4447
..
4447
|
G/A |
rs201222650
|
- |
CDS |
Nonsynonymous[Val1352Met] |
4469
..
4469
|
G/A |
rs142436702
|
- |
CDS |
Nonsynonymous[Arg1359Gln] |
4488
..
4488
|
G/A |
rs199974998
|
- |
CDS |
Synonymous[Gln1365Gln] |
4517
..
4517
|
C/G |
rs199895355
|
- |
CDS |
Nonsynonymous[Pro1375Arg] |
4522
..
4522
|
G/A |
rs138437458
|
- |
CDS |
Nonsynonymous[Val1377Met] |
4547
..
4547
|
C/T |
rs143125201
|
- |
CDS |
Nonsynonymous[Pro1385Leu] |
4570
..
4570
|
G/C |
rs149093940
|
- |
CDS |
Nonsynonymous[Ala1393Pro] |
4615
..
4615
|
T/A |
rs150847470
|
- |
3'UTR |
|
4635
..
4635
|
C/T |
rs200778472
|
- |
3'UTR |
|
4684
..
4684
|
G/A |
rs148357208
|
- |
3'UTR |
|
4702
..
4702
|
C/T |
rs181528790
|
- |
3'UTR |
|
4734
..
4734
|
C/T |
rs189487790
|
- |
3'UTR |
|