|
NM_022489.4(INF2):c.105C>T (p.Pro35=)
|
rs4983530
|
0.98049
|
|
NM_004998.4(MYO1E):c.332+8G>A
|
rs4508371
|
0.97982
|
|
NM_022489.4(INF2):c.2640T>C (p.Asp880=)
|
rs10133301
|
0.88426
|
|
NM_022489.4(INF2):c.3066T>C (p.Asp1022=)
|
rs4983535
|
0.79980
|
|
NM_001304569.2(PAX2):c.25+31A>G
|
rs4919486
|
0.79471
|
|
NM_022489.4(INF2):c.2310+8del
|
rs3840006
|
0.58720
|
|
NM_018685.5(ANLN):c.554G>A (p.Arg185Lys)
|
rs197367
|
0.58104
|
|
NM_018685.5(ANLN):c.2749-54T>C
|
rs6957214
|
0.49490
|
|
NM_004621.6(TRPC6):c.171-20A>G
|
rs10501986
|
0.46624
|
|
NM_022489.4(INF2):c.*536G>T
|
rs1128880
|
0.45873
|
|
NM_000278.5(PAX2):c.909A>C (p.Pro303=)
|
rs1800898
|
0.40586
|
|
NM_004924.6(ACTN4):c.546C>T (p.Asn182=)
|
rs3745859
|
0.39136
|
|
NM_018685.5(ANLN):c.1096+35T>C
|
rs3801315
|
0.38510
|
|
NM_004998.4(MYO1E):c.1008C>T (p.Ser336=)
|
rs2230155
|
0.37486
|
|
NM_000278.5(PAX2):c.43+43C>A
|
rs4405241
|
0.37380
|
|
NM_004621.6(TRPC6):c.*553T>G
|
rs7931399
|
0.32661
|
|
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=)
|
rs12366144
|
0.31538
|
|
NM_004998.4(MYO1E):c.2673A>G (p.Ala891=)
|
rs2306791
|
0.26773
|
|
NM_004621.6(TRPC6):c.-361A>T
|
rs41302375
|
0.23298
|
|
NM_018685.5(ANLN):c.2883+32T>G
|
rs3815485
|
0.23236
|
|
NM_018685.5(ANLN):c.1634-25G>A
|
rs17170590
|
0.22934
|
|
NM_018685.5(ANLN):c.2300-37G>A
|
rs2302526
|
0.22848
|
|
NM_018685.5(ANLN):c.3252-41G>A
|
rs3801302
|
0.22787
|
|
NM_022489.4(INF2):c.1949+16A>G
|
rs11850821
|
0.21385
|
|
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=)
|
rs1136956
|
0.20720
|
|
NM_004621.6(TRPC6):c.-218C>T
|
rs56134796
|
0.20345
|
|
NM_022489.4(INF2):c.*437G>A
|
rs1128866
|
0.16086
|
|
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=)
|
rs72984209
|
0.15473
|
|
NM_004924.6(ACTN4):c.1442+64C>T
|
rs77822825
|
0.14962
|
|
NM_004924.6(ACTN4):c.537G>A (p.Pro179=)
|
rs11553600
|
0.14941
|
|
NM_004924.6(ACTN4):c.278-98G>A
|
rs73038909
|
0.14725
|
|
NM_018685.5(ANLN):c.874-56A>G
|
rs10227127
|
0.13844
|
|
NM_018685.5(ANLN):c.194C>G (p.Ser65Trp)
|
rs3735400
|
0.13215
|
|
NM_000278.5(PAX2):c.798C>T (p.Asn266=)
|
rs1800897
|
0.12916
|
|
NM_018685.5(ANLN):c.1506T>C (p.Ser502=)
|
rs10224902
|
0.11596
|
|
NM_018685.5(ANLN):c.819A>G (p.Leu273=)
|
rs3735398
|
0.10698
|
|
NM_018685.5(ANLN):c.3251+31A>G
|
rs3801304
|
0.10053
|
|
NM_022489.4(INF2):c.-85G>A
|
rs141884370
|
0.09252
|
|
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=)
|
rs12805398
|
0.08831
|
|
NM_004621.6(TRPC6):c.-254C>G
|
rs3824934
|
0.08690
|
|
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val)
|
rs36111323
|
0.08144
|
|
NM_018685.5(ANLN):c.553A>C (p.Arg185=)
|
rs61737563
|
0.07957
|
|
NM_018685.5(ANLN):c.2164-24T>C
|
rs79624523
|
0.07892
|
|
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser)
|
rs3802829
|
0.07029
|
|
NM_022489.4(INF2):c.2775+15C>T
|
rs73347508
|
0.06749
|
|
NM_022489.4(INF2):c.-10G>A
|
rs115602636
|
0.05904
|
|
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser)
|
rs34251364
|
0.05864
|
|
NM_004924.6(ACTN4):c.1291+81C>T
|
rs7248577
|
0.05857
|
|
NM_022489.4(INF2):c.843+16C>T
|
rs118017785
|
0.05808
|
|
NM_004924.6(ACTN4):c.734-54C>T
|
rs12984794
|
0.05568
|
|
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=)
|
rs12986337
|
0.05559
|
|
NM_004924.6(ACTN4):c.1551+49C>T
|
rs62120068
|
0.05547
|
|
NM_004924.6(ACTN4):c.398-16C>T
|
rs2287728
|
0.05415
|
|
NM_004924.6(ACTN4):c.652-37G>A
|
rs45561939
|
0.04930
|
|
NM_004924.6(ACTN4):c.652-55G>T
|
rs56737532
|
0.04927
|
|
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=)
|
rs61743044
|
0.04384
|
|
NM_004924.6(ACTN4):c.820-94C>T
|
rs2306196
|
0.03870
|
|
NM_022489.4(INF2):c.1227G>T (p.Ser409=)
|
rs3809455
|
0.03433
|
|
NM_004924.6(ACTN4):c.246C>T (p.Leu82=)
|
rs77307137
|
0.02544
|
|
NM_004924.6(ACTN4):c.484+75C>T
|
rs2368475
|
0.02543
|
|
NM_022489.4(INF2):c.2322C>T (p.Thr774=)
|
rs59751492
|
0.02373
|
|
NM_022489.4(INF2):c.391+18A>T
|
rs115458897
|
0.02077
|
|
NM_018685.5(ANLN):c.2770+69A>G
|
rs74625879
|
0.02004
|
|
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser)
|
rs9672065
|
0.01930
|
|
NM_022489.4(INF2):c.*553T>C
|
rs115685078
|
0.01713
|
|
NM_004924.6(ACTN4):c.1442+72C>T
|
rs2306197
|
0.01470
|
|
NM_022489.4(INF2):c.2571C>T (p.Ser857=)
|
rs62640005
|
0.01396
|
|
NM_004998.4(MYO1E):c.511-19A>T
|
rs2306782
|
0.01292
|
|
NM_004621.6(TRPC6):c.-10C>A
|
rs191383391
|
0.01276
|
|
NM_022489.4(INF2):c.42G>A (p.Leu14=)
|
rs62638758
|
0.01192
|
|
NM_022489.4(INF2):c.3153C>T (p.Asp1051=)
|
rs117457867
|
0.01185
|
|
NM_018685.5(ANLN):c.1686G>A (p.Ser562=)
|
rs34371129
|
0.01094
|
|
NM_022489.4(INF2):c.391+17G>A
|
rs4074531
|
0.01087
|
|
NM_022489.4(INF2):c.1452T>C (p.Cys484=)
|
rs371775604
|
0.01071
|
|
NM_018685.5(ANLN):c.2971-12T>G
|
rs6954957
|
0.01028
|
|
NM_000278.5(PAX2):c.792+9G>A
|
rs79552202
|
0.00974
|
|
NM_004998.4(MYO1E):c.643-4C>T
|
rs73422973
|
0.00956
|
|
NM_004998.4(MYO1E):c.2130G>A (p.Val710=)
|
rs114132435
|
0.00944
|
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
|
NM_004621.6(TRPC6):c.*530T>C
|
rs112916171
|
0.00885
|
|
NM_004924.6(ACTN4):c.369C>T (p.Gly123=)
|
rs140381330
|
0.00875
|
|
NM_018685.5(ANLN):c.1245C>T (p.Asp415=)
|
rs11976268
|
0.00867
|
|
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)
|
rs61739601
|
0.00801
|
|
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del)
|
rs751555478
|
0.00781
|
|
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln)
|
rs142678449
|
0.00781
|
|
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)
|
rs111589086
|
0.00779
|
|
NM_022489.4(INF2):c.1269A>C (p.Pro423=)
|
rs750660584
|
0.00746
|
|
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)
|
rs145286619
|
0.00688
|
|
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=)
|
rs145474119
|
0.00666
|
|
NM_018685.5(ANLN):c.100A>G (p.Met34Val)
|
rs116131910
|
0.00644
|
|
NM_004998.4(MYO1E):c.1617-12C>G
|
rs192317472
|
0.00636
|
|
NM_004621.6(TRPC6):c.*970A>G
|
rs146033736
|
0.00635
|
|
NM_022489.4(INF2):c.*10C>T
|
rs142710295
|
0.00580
|
|
NM_022489.4(INF2):c.879G>A (p.Ser293=)
|
rs184709736
|
0.00543
|
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00532
|
|
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)
|
rs150183570
|
0.00498
|
|
NM_022489.4(INF2):c.1078G>A (p.Val360Ile)
|
rs114820975
|
0.00483
|
|
NM_022489.4(INF2):c.1263A>C (p.Pro421=)
|
rs761903419
|
0.00483
|
|
NM_022489.4(INF2):c.3069C>T (p.Pro1023=)
|
rs75382114
|
0.00477
|
|
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)
|
rs201323100
|
0.00470
|
|
NM_173689.7(CRB2):c.2748C>T (p.Ala916=)
|
rs372726074
|
0.00422
|
|
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)
|
rs141727248
|
0.00403
|
|
NM_004621.6(TRPC6):c.1338C>T (p.His446=)
|
rs112258968
|
0.00391
|
|
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)
|
rs148259739
|
0.00334
|
|
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=)
|
rs145459485
|
0.00334
|
|
NM_004924.6(ACTN4):c.1692+10C>G
|
rs199619802
|
0.00300
|
|
NM_022489.4(INF2):c.*388A>G
|
rs140513391
|
0.00296
|
|
NM_022489.4(INF2):c.*544G>A
|
rs111978619
|
0.00287
|
|
NM_022489.4(INF2):c.3078C>T (p.Ser1026=)
|
rs377023270
|
0.00272
|
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
|
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)
|
rs149027682
|
0.00270
|
|
NM_004924.6(ACTN4):c.978G>A (p.Gln326=)
|
rs117392350
|
0.00253
|
|
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu)
|
rs146529868
|
0.00250
|
|
NM_022489.4(INF2):c.2433C>T (p.Ser811=)
|
rs140010249
|
0.00248
|
|
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775
|
0.00247
|
|
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met)
|
rs3803311
|
0.00242
|
|
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)
|
rs140707871
|
0.00240
|
|
NM_173689.7(CRB2):c.2817G>C (p.Leu939=)
|
rs148565778
|
0.00240
|
|
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)
|
rs139575917
|
0.00232
|
|
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)
|
rs139187399
|
0.00222
|
|
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=)
|
rs144388375
|
0.00222
|
|
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn)
|
rs148541427
|
0.00214
|
|
NM_022489.4(INF2):c.2138+9G>A
|
rs201065953
|
0.00213
|
|
NM_004998.4(MYO1E):c.978G>A (p.Arg326=)
|
rs141570155
|
0.00199
|
|
NM_004621.6(TRPC6):c.*9C>T
|
rs187970274
|
0.00190
|
|
NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val)
|
rs141247770
|
0.00189
|
|
NM_022489.4(INF2):c.*638G>A
|
rs191976493
|
0.00182
|
|
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)
|
rs561402183
|
0.00178
|
|
NM_022489.4(INF2):c.2490-20C>T
|
rs187104422
|
0.00170
|
|
NM_022489.4(INF2):c.3694+13G>C
|
rs776214809
|
0.00163
|
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00158
|
|
NM_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219
|
0.00150
|
|
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser)
|
rs143540449
|
0.00150
|
|
NM_022489.4(INF2):c.1647A>G (p.Ala549=)
|
rs201674759
|
0.00143
|
|
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
|
rs766635668
|
0.00138
|
|
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)
|
rs150811244
|
0.00134
|
|
NM_173689.7(CRB2):c.606G>A (p.Leu202=)
|
rs201174974
|
0.00130
|
|
NM_000278.5(PAX2):c.932C>T (p.Ala311Val)
|
rs78738655
|
0.00126
|
|
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)
|
rs200369827
|
0.00126
|
|
NM_004621.6(TRPC6):c.*1038T>G
|
rs142655335
|
0.00123
|
|
NM_004998.4(MYO1E):c.147+14G>T
|
rs183374173
|
0.00123
|
|
NM_004998.4(MYO1E):c.1616+17A>G
|
rs138790400
|
0.00120
|
|
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)
|
rs201593594
|
0.00116
|
|
NM_004924.6(ACTN4):c.738C>T (p.Ile246=)
|
rs34491236
|
0.00115
|
|
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)
|
rs137985903
|
0.00110
|
|
NM_004621.6(TRPC6):c.*218C>T
|
rs190606820
|
0.00103
|
|
NM_000278.5(PAX2):c.213-8C>T
|
rs369615430
|
0.00101
|
|
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly)
|
rs141565214
|
0.00101
|
|
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)
|
rs199873407
|
0.00098
|
|
NM_022489.4(INF2):c.507+7G>A
|
rs201568246
|
0.00095
|
|
NM_000278.5(PAX2):c.819G>C (p.Leu273=)
|
rs144433354
|
0.00090
|
|
NM_004621.6(TRPC6):c.*314C>G
|
rs199583740
|
0.00083
|
|
NM_173689.7(CRB2):c.516C>T (p.Cys172=)
|
rs146687164
|
0.00083
|
|
NM_004621.6(TRPC6):c.*40T>G
|
rs201285907
|
0.00082
|
|
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)
|
rs117273916
|
0.00082
|
|
NM_022489.4(INF2):c.1950-10C>T
|
rs199987321
|
0.00082
|
|
NM_004998.4(MYO1E):c.2627+8C>T
|
rs12232341
|
0.00074
|
|
NM_004998.4(MYO1E):c.511-17C>T
|
rs118012522
|
0.00071
|
|
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=)
|
rs138139611
|
0.00066
|
|
NM_022489.4(INF2):c.1329A>C (p.Pro443=)
|
rs769756576
|
0.00062
|
|
NM_022489.4(INF2):c.*16C>T
|
rs199912466
|
0.00058
|
|
NM_022489.4(INF2):c.*136C>T
|
rs150579444
|
0.00053
|
|
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=)
|
rs139243684
|
0.00052
|
|
NM_018685.5(ANLN):c.1848A>G (p.Thr616=)
|
rs147584607
|
0.00052
|
|
NM_022489.4(INF2):c.2138+12C>T
|
rs186410473
|
0.00051
|
|
NM_004998.4(MYO1E):c.669G>A (p.Gln223=)
|
rs142105673
|
0.00049
|
|
NM_000278.5(PAX2):c.212+12G>A
|
rs546505132
|
0.00048
|
|
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=)
|
rs192382222
|
0.00048
|
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878
|
0.00048
|
|
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln)
|
rs199801767
|
0.00047
|
|
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)
|
rs199695001
|
0.00046
|
|
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln)
|
rs147412276
|
0.00045
|
|
NM_004621.6(TRPC6):c.*575C>A
|
rs200705719
|
0.00044
|
|
NM_004998.4(MYO1E):c.1530+14C>T
|
rs116371817
|
0.00043
|
|
NM_004998.4(MYO1E):c.2878+19G>A
|
rs200710336
|
0.00043
|
|
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr)
|
rs189559257
|
0.00043
|
|
NM_004924.6(ACTN4):c.2011-5C>T
|
rs372743117
|
0.00041
|
|
NM_022489.4(INF2):c.*803G>A
|
rs555692643
|
0.00041
|
|
NM_000278.5(PAX2):c.354C>T (p.Leu118=)
|
rs142934523
|
0.00040
|
|
NM_004621.6(TRPC6):c.*175A>C
|
rs199878670
|
0.00038
|
|
NM_004621.6(TRPC6):c.*668G>A
|
rs200307747
|
0.00038
|
|
NM_022489.4(INF2):c.1773C>T (p.Asp591=)
|
rs201853087
|
0.00038
|
|
NM_022489.4(INF2):c.2181G>A (p.Ala727=)
|
rs370830904
|
0.00038
|
|
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)
|
rs760986113
|
0.00036
|
|
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys)
|
rs201445955
|
0.00036
|
|
NM_022489.4(INF2):c.3747G>A (p.Gln1249=)
|
rs149939482
|
0.00036
|
|
NM_004621.6(TRPC6):c.948T>C (p.Asn316=)
|
rs139477687
|
0.00035
|
|
NM_004924.6(ACTN4):c.2191-5C>T
|
rs186662077
|
0.00035
|
|
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=)
|
rs147922933
|
0.00034
|
|
NM_004998.4(MYO1E):c.2335-13C>T
|
rs775751894
|
0.00034
|
|
NM_022489.4(INF2):c.37G>A (p.Ala13Thr)
|
rs201383094
|
0.00034
|
|
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=)
|
rs146493523
|
0.00033
|
|
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)
|
rs201534539
|
0.00033
|
|
NM_022489.4(INF2):c.3476G>A (p.Arg1159His)
|
rs200591522
|
0.00033
|
|
NM_004924.6(ACTN4):c.297G>A (p.Pro99=)
|
rs144919593
|
0.00032
|
|
NM_022489.4(INF2):c.2775+20C>A
|
rs532636302
|
0.00032
|
|
NM_018685.5(ANLN):c.173-16A>G
|
rs181560875
|
0.00031
|
|
NM_022489.4(INF2):c.639G>A (p.Ala213=)
|
rs149858291
|
0.00031
|
|
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=)
|
rs146652440
|
0.00030
|
|
NM_022489.4(INF2):c.1632T>C (p.His544=)
|
rs374940901
|
0.00030
|
|
NM_004621.6(TRPC6):c.-243C>T
|
rs199601311
|
0.00029
|
|
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup)
|
rs778276152
|
0.00029
|
|
NM_004621.6(TRPC6):c.888G>A (p.Thr296=)
|
rs144891994
|
0.00029
|
|
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr)
|
rs201128110
|
0.00029
|
|
NM_022489.4(INF2):c.2187C>T (p.Ala729=)
|
rs766576610
|
0.00029
|
|
NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser)
|
rs780391222
|
0.00029
|
|
NM_022489.4(INF2):c.609C>T (p.Ala203=)
|
rs140017506
|
0.00028
|
|
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn)
|
rs370214925
|
0.00026
|
|
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala)
|
rs369774689
|
0.00026
|
|
NM_022489.4(INF2):c.1929C>T (p.Ile643=)
|
rs756712490
|
0.00026
|
|
NM_004621.6(TRPC6):c.-125C>T
|
rs201034657
|
0.00025
|
|
NM_000278.5(PAX2):c.963C>T (p.His321=)
|
rs138750534
|
0.00024
|
|
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=)
|
rs143282009
|
0.00024
|
|
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter)
|
rs200989750
|
0.00023
|
|
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr)
|
rs376067427
|
0.00023
|
|
NM_004621.6(TRPC6):c.218G>A (p.Arg73His)
|
rs371919016
|
0.00022
|
|
NM_004621.6(TRPC6):c.2392G>C (p.Asp798His)
|
rs201522744
|
0.00022
|
|
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser)
|
rs146776939
|
0.00022
|
|
NM_004924.6(ACTN4):c.2673C>T (p.Ala891=)
|
rs140419295
|
0.00022
|
|
NM_018685.5(ANLN):c.524C>T (p.Pro175Leu)
|
rs148482760
|
0.00022
|
|
NM_022489.4(INF2):c.1736-18C>T
|
rs199612826
|
0.00022
|
|
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)
|
rs201715539
|
0.00022
|
|
NM_004924.6(ACTN4):c.1712A>G (p.Asp571Gly)
|
rs367745869
|
0.00021
|
|
NM_004998.4(MYO1E):c.1805+7G>A
|
rs561678142
|
0.00021
|
|
NM_004998.4(MYO1E):c.2628-8T>C
|
rs373053697
|
0.00021
|
|
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=)
|
rs144794852
|
0.00021
|
|
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu)
|
rs34802652
|
0.00021
|
|
NM_004998.4(MYO1E):c.2164+12A>G
|
rs187897054
|
0.00020
|
|
NM_022489.4(INF2):c.2409C>T (p.His803=)
|
rs767953575
|
0.00020
|
|
NM_022489.4(INF2):c.3040+16A>G
|
rs367565825
|
0.00020
|
|
NM_000278.5(PAX2):c.867C>G (p.Asn289Lys)
|
rs199724772
|
0.00019
|
|
NM_004621.6(TRPC6):c.75C>T (p.Arg25=)
|
rs201051533
|
0.00019
|
|
NM_018685.5(ANLN):c.2385T>A (p.Ser795Arg)
|
rs148319769
|
0.00019
|
|
NM_018685.5(ANLN):c.752G>A (p.Ser251Asn)
|
rs372980930
|
0.00019
|
|
NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
|
rs368569489
|
0.00019
|
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
|
NM_004621.6(TRPC6):c.*792G>A
|
rs201986308
|
0.00018
|
|
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)
|
rs121434391
|
0.00018
|
|
NM_004924.6(ACTN4):c.1291+4C>T
|
rs201704771
|
0.00018
|
|
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=)
|
rs202127035
|
0.00018
|
|
NM_022489.4(INF2):c.2418+10G>T
|
rs748035327
|
0.00018
|
|
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr)
|
rs142638347
|
0.00017
|
|
NM_000278.5(PAX2):c.496+9G>T
|
rs577483360
|
0.00016
|
|
NM_000278.5(PAX2):c.981G>A (p.Gln327=)
|
rs149654780
|
0.00016
|
|
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=)
|
rs568574676
|
0.00016
|
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
|
NM_004621.6(TRPC6):c.-143C>T
|
rs886047539
|
0.00015
|
|
NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr)
|
rs148628123
|
0.00015
|
|
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=)
|
rs200987052
|
0.00015
|
|
NM_022489.4(INF2):c.1736-6C>T
|
rs371991103
|
0.00015
|
|
NM_022489.4(INF2):c.2054T>C (p.Ile685Thr)
|
rs201203979
|
0.00015
|
|
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
rs533208785
|
0.00015
|
|
NM_000278.5(PAX2):c.1022-19C>T
|
rs201800775
|
0.00014
|
|
NM_018685.5(ANLN):c.1198A>G (p.Ile400Val)
|
rs780364655
|
0.00014
|
|
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)
|
rs4983379
|
0.00014
|
|
NM_022489.4(INF2):c.306C>T (p.Val102=)
|
rs748335660
|
0.00014
|
|
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu)
|
rs376139171
|
0.00014
|
|
NM_022489.4(INF2):c.3684G>A (p.Arg1228=)
|
rs189263181
|
0.00014
|
|
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=)
|
rs139162351
|
0.00013
|
|
NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His)
|
rs370199714
|
0.00013
|
|
NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn)
|
rs368888160
|
0.00013
|
|
NM_022489.4(INF2):c.1755G>A (p.Ala585=)
|
rs375573206
|
0.00013
|
|
NM_022489.4(INF2):c.966C>T (p.Ala322=)
|
rs774024906
|
0.00013
|
|
NM_000278.5(PAX2):c.411-11C>T
|
rs541291517
|
0.00012
|
|
NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys)
|
rs774652175
|
0.00012
|
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
|
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe)
|
rs545495465
|
0.00012
|
|
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr)
|
rs374684004
|
0.00012
|
|
NM_022489.4(INF2):c.744C>T (p.Phe248=)
|
rs372799744
|
0.00012
|
|
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)
|
rs139330011
|
0.00011
|
|
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=)
|
rs372396071
|
0.00011
|
|
NM_004998.4(MYO1E):c.3081-6C>T
|
rs201630409
|
0.00011
|
|
NM_022489.4(INF2):c.1770C>T (p.Pro590=)
|
rs549506051
|
0.00011
|
|
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp)
|
rs138577569
|
0.00011
|
|
NM_022489.4(INF2):c.2053-16G>A
|
rs371712402
|
0.00011
|
|
NM_022489.4(INF2):c.2239+16C>T
|
rs370364755
|
0.00011
|
|
NM_022489.4(INF2):c.2367G>A (p.Thr789=)
|
rs368194536
|
0.00011
|
|
NM_022489.4(INF2):c.2766C>T (p.Arg922=)
|
rs201044782
|
0.00011
|
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
|
NM_022489.4(INF2):c.844-6G>A
|
rs370399987
|
0.00011
|
|
NM_004621.6(TRPC6):c.213T>A (p.Val71=)
|
rs138123801
|
0.00010
|
|
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)
|
rs150033580
|
0.00010
|
|
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp)
|
rs756003995
|
0.00010
|
|
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala)
|
rs762762940
|
0.00010
|
|
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)
|
rs1166010216
|
0.00010
|
|
NM_022489.4(INF2):c.1428A>G (p.Leu476=)
|
rs765740200
|
0.00010
|
|
NM_022489.4(INF2):c.1458C>T (p.Phe486=)
|
rs1420347614
|
0.00010
|
|
NM_022489.4(INF2):c.2202G>A (p.Val734=)
|
rs376146089
|
0.00010
|
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
|
NM_022489.4(INF2):c.3040+11C>T
|
rs374390500
|
0.00010
|
|
NM_022489.4(INF2):c.474C>T (p.His158=)
|
rs141172921
|
0.00010
|
|
NM_022489.4(INF2):c.67T>A (p.Ser23Thr)
|
rs746964937
|
0.00010
|
|
NM_000278.5(PAX2):c.219C>T (p.Tyr73=)
|
rs139724326
|
0.00009
|
|
NM_000278.5(PAX2):c.357G>T (p.Leu119=)
|
rs543423053
|
0.00009
|
|
NM_000278.5(PAX2):c.616+6G>C
|
rs180903301
|
0.00009
|
|
NM_004621.6(TRPC6):c.*1380G>A
|
rs747229991
|
0.00009
|
|
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr)
|
rs886039885
|
0.00009
|
|
NM_022489.4(INF2):c.1197C>T (p.His399=)
|
rs746493706
|
0.00009
|
|
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu)
|
rs561201601
|
0.00009
|
|
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)
|
rs376451593
|
0.00009
|
|
NM_022489.4(INF2):c.1806C>T (p.Ile602=)
|
rs760506368
|
0.00009
|
|
NM_022489.4(INF2):c.2053-13C>T
|
rs753775095
|
0.00009
|
|
NM_022489.4(INF2):c.2622G>A (p.Ser874=)
|
rs374311535
|
0.00009
|
|
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile)
|
rs371946522
|
0.00009
|
|
NM_022489.4(INF2):c.354C>T (p.Ile118=)
|
rs771038193
|
0.00009
|
|
NM_022489.4(INF2):c.3654C>T (p.Thr1218=)
|
rs557462297
|
0.00009
|
|
NM_022489.4(INF2):c.3694+20C>T
|
rs769373012
|
0.00009
|
|
NM_022489.4(INF2):c.3744C>T (p.Ile1248=)
|
rs765432583
|
0.00009
|
|
NM_022489.4(INF2):c.798C>G (p.Val266=)
|
rs375005967
|
0.00009
|
|
NM_000278.5(PAX2):c.117G>T (p.Gln39His)
|
rs141576824
|
0.00008
|
|
NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg)
|
rs148529934
|
0.00008
|
|
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935
|
0.00008
|
|
NM_022489.4(INF2):c.668-12G>A
|
rs367924307
|
0.00008
|
|
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)
|
rs138490772
|
0.00007
|
|
NM_000278.5(PAX2):c.213-5C>T
|
rs767757944
|
0.00007
|
|
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr)
|
rs749684940
|
0.00007
|
|
NM_004621.6(TRPC6):c.1899C>T (p.Asp633=)
|
rs187196477
|
0.00007
|
|
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=)
|
rs370612369
|
0.00007
|
|
NM_022489.4(INF2):c.*1+1G>C
|
rs758452999
|
0.00007
|
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096
|
0.00007
|
|
NM_022489.4(INF2):c.1377G>A (p.Pro459=)
|
rs776870726
|
0.00007
|
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
|
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys)
|
rs569586169
|
0.00007
|
|
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125
|
0.00007
|
|
NM_022489.4(INF2):c.507+19G>A
|
rs771875521
|
0.00007
|
|
NM_022489.4(INF2):c.597C>T (p.Ser199=)
|
rs372269719
|
0.00007
|
|
NM_022489.4(INF2):c.684C>T (p.Asp228=)
|
rs555087041
|
0.00007
|
|
NM_000278.5(PAX2):c.1021+193G>A
|
rs145911423
|
0.00006
|
|
NM_000278.5(PAX2):c.213-20C>T
|
rs769582983
|
0.00006
|
|
NM_000278.5(PAX2):c.410+16G>A
|
rs372153559
|
0.00006
|
|
NM_000278.5(PAX2):c.528C>T (p.Ser176=)
|
rs369240774
|
0.00006
|
|
NM_000278.5(PAX2):c.920-12G>A
|
rs775815946
|
0.00006
|
|
NM_004621.6(TRPC6):c.*337G>A
|
rs144714163
|
0.00006
|
|
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met)
|
rs200772226
|
0.00006
|
|
NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu)
|
rs368256210
|
0.00006
|
|
NM_004924.6(ACTN4):c.2191-4G>A
|
rs371779934
|
0.00006
|
|
NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn)
|
rs753091185
|
0.00006
|
|
NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys)
|
rs372129305
|
0.00006
|
|
NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln)
|
rs757483863
|
0.00006
|
|
NM_022489.4(INF2):c.*447A>T
|
rs749782054
|
0.00006
|
|
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe)
|
rs753188664
|
0.00006
|
|
NM_022489.4(INF2):c.1614C>T (p.Ile538=)
|
rs201561899
|
0.00006
|
|
NM_022489.4(INF2):c.1771G>C (p.Asp591His)
|
rs369421697
|
0.00006
|
|
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)
|
rs539256832
|
0.00006
|
|
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
|
rs762960061
|
0.00006
|
|
NM_022489.4(INF2):c.2254C>T (p.Arg752Cys)
|
rs749405096
|
0.00006
|
|
NM_022489.4(INF2):c.237G>A (p.Glu79=)
|
rs781088811
|
0.00006
|
|
NM_022489.4(INF2):c.2423C>T (p.Ala808Val)
|
rs200948588
|
0.00006
|
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
|
NM_022489.4(INF2):c.2599G>A (p.Glu867Lys)
|
rs777850657
|
0.00006
|
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
|
NM_022489.4(INF2):c.2879-10C>T
|
rs534732317
|
0.00006
|
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551
|
0.00006
|
|
NM_022489.4(INF2):c.3102C>T (p.Pro1034=)
|
rs375864368
|
0.00006
|
|
NM_022489.4(INF2):c.3591G>A (p.Ala1197=)
|
rs765090867
|
0.00006
|
|
NM_022489.4(INF2):c.366G>A (p.Gln122=)
|
rs770186824
|
0.00006
|
|
NM_022489.4(INF2):c.507+6C>T
|
rs749868411
|
0.00006
|
|
NM_022489.4(INF2):c.508-14C>T
|
rs372257945
|
0.00006
|
|
NM_022489.4(INF2):c.885G>A (p.Leu295=)
|
rs370680236
|
0.00006
|
|
NM_173689.7(CRB2):c.1600C>T (p.Arg534Trp)
|
rs759002273
|
0.00006
|
|
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys)
|
rs537738396
|
0.00006
|
|
NM_000278.5(PAX2):c.411-10G>A
|
rs753261521
|
0.00005
|
|
NM_000278.5(PAX2):c.478G>A (p.Ala160Thr)
|
rs201383632
|
0.00005
|
|
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)
|
rs767995614
|
0.00005
|
|
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys)
|
rs756570535
|
0.00005
|
|
NM_000278.5(PAX2):c.756C>T (p.Asp252=)
|
rs200804078
|
0.00005
|
|
NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr)
|
rs753943966
|
0.00005
|
|
NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile)
|
rs564122319
|
0.00005
|
|
NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu)
|
rs376718983
|
0.00005
|
|
NM_022489.4(INF2):c.*311T>A
|
rs975205957
|
0.00005
|
|
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540
|
0.00005
|
|
NM_022489.4(INF2):c.1587C>T (p.Pro529=)
|
rs755649066
|
0.00005
|
|
NM_022489.4(INF2):c.1950-3C>A
|
rs777132952
|
0.00005
|
|
NM_022489.4(INF2):c.2419-14G>A
|
rs746955943
|
0.00005
|
|
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn)
|
rs373532334
|
0.00005
|
|
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys)
|
rs748529803
|
0.00005
|
|
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn)
|
rs776314008
|
0.00005
|
|
NM_022489.4(INF2):c.2879-9G>A
|
rs373139405
|
0.00005
|
|
NM_022489.4(INF2):c.3372C>T (p.Ala1124=)
|
rs769591308
|
0.00005
|
|
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
|
rs374049468
|
0.00005
|
|
NM_022489.4(INF2):c.598G>A (p.Val200Met)
|
rs377272716
|
0.00005
|
|
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452
|
0.00005
|
|
NM_000278.5(PAX2):c.584G>A (p.Arg195His)
|
rs201880460
|
0.00004
|
|
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser)
|
rs148402788
|
0.00004
|
|
NM_004621.6(TRPC6):c.*13C>T
|
rs200791047
|
0.00004
|
|
NM_004621.6(TRPC6):c.-205C>T
|
rs533735159
|
0.00004
|
|
NM_004621.6(TRPC6):c.-343C>G
|
rs200074836
|
0.00004
|
|
NM_004621.6(TRPC6):c.1677C>T (p.Asp559=)
|
rs552837414
|
0.00004
|
|
NM_004621.6(TRPC6):c.271C>T (p.Arg91Cys)
|
rs200186406
|
0.00004
|
|
NM_004621.6(TRPC6):c.293A>T (p.Glu98Val)
|
rs200369786
|
0.00004
|
|
NM_004621.6(TRPC6):c.375C>T (p.Asn125=)
|
rs201643083
|
0.00004
|
|
NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=)
|
rs372458891
|
0.00004
|
|
NM_004924.6(ACTN4):c.1750C>T (p.Arg584Cys)
|
rs376144793
|
0.00004
|
|
NM_004924.6(ACTN4):c.1806C>T (p.His602=)
|
rs749089376
|
0.00004
|
|
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=)
|
rs375763862
|
0.00004
|
|
NM_004924.6(ACTN4):c.2671G>A (p.Ala891Thr)
|
rs370231267
|
0.00004
|
|
NM_004924.6(ACTN4):c.932G>A (p.Arg311His)
|
rs559700598
|
0.00004
|
|
NM_004998.4(MYO1E):c.1275+12C>G
|
rs373603961
|
0.00004
|
|
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=)
|
rs140388346
|
0.00004
|
|
NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp)
|
rs763194287
|
0.00004
|
|
NM_004998.4(MYO1E):c.839C>T (p.Ala280Val)
|
rs375751619
|
0.00004
|
|
NM_018685.5(ANLN):c.1127G>A (p.Arg376His)
|
rs368703385
|
0.00004
|
|
NM_018685.5(ANLN):c.1171C>T (p.Arg391Cys)
|
rs562511350
|
0.00004
|
|
NM_018685.5(ANLN):c.2056C>T (p.Arg686Cys)
|
rs201054659
|
0.00004
|
|
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756
|
0.00004
|
|
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)
|
rs374769850
|
0.00004
|
|
NM_022489.4(INF2):c.118C>A (p.Arg40=)
|
rs761238349
|
0.00004
|
|
NM_022489.4(INF2):c.1286T>C (p.Leu429Pro)
|
rs755557218
|
0.00004
|
|
NM_022489.4(INF2):c.1293T>C (p.Pro431=)
|
rs758725838
|
0.00004
|
|
NM_022489.4(INF2):c.1725C>T (p.Asn575=)
|
rs368235032
|
0.00004
|
|
NM_022489.4(INF2):c.1736-17G>A
|
rs368134734
|
0.00004
|
|
NM_022489.4(INF2):c.1791C>T (p.Pro597=)
|
rs377222356
|
0.00004
|
|
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)
|
rs368576387
|
0.00004
|
|
NM_022489.4(INF2):c.2043G>A (p.Glu681=)
|
rs776591878
|
0.00004
|
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
|
NM_022489.4(INF2):c.2184C>T (p.Ala728=)
|
rs564499884
|
0.00004
|
|
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
rs375390523
|
0.00004
|
|
NM_022489.4(INF2):c.2239+17G>A
|
rs898249257
|
0.00004
|
|
NM_022489.4(INF2):c.2240-5T>C
|
rs765264633
|
0.00004
|
|
NM_022489.4(INF2):c.2418+3G>A
|
rs748896420
|
0.00004
|
|
NM_022489.4(INF2):c.2418+8G>A
|
rs778305724
|
0.00004
|
|
NM_022489.4(INF2):c.2556G>A (p.Arg852=)
|
rs763348932
|
0.00004
|
|
NM_022489.4(INF2):c.2765G>A (p.Arg922His)
|
rs749197190
|
0.00004
|
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
|
NM_022489.4(INF2):c.3057T>C (p.Pro1019=)
|
rs770151373
|
0.00004
|
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
|
NM_022489.4(INF2):c.3402C>T (p.Pro1134=)
|
rs773425934
|
0.00004
|
|
NM_022489.4(INF2):c.3436G>A (p.Asp1146Asn)
|
rs749079171
|
0.00004
|
|
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
|
rs753263522
|
0.00004
|
|
NM_022489.4(INF2):c.359G>A (p.Ser120Asn)
|
rs777096903
|
0.00004
|
|
NM_022489.4(INF2):c.3606G>A (p.Ser1202=)
|
rs756383109
|
0.00004
|
|
NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu)
|
rs376222605
|
0.00004
|
|
NM_022489.4(INF2):c.3694+16G>A
|
rs556924432
|
0.00004
|
|
NM_022489.4(INF2):c.3719A>G (p.Asn1240Ser)
|
rs1306025921
|
0.00004
|
|
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
|
rs1026924897
|
0.00004
|
|
NM_022489.4(INF2):c.510G>A (p.Thr170=)
|
rs750711173
|
0.00004
|
|
NM_022489.4(INF2):c.519C>T (p.Ser173=)
|
rs780247558
|
0.00004
|
|
NM_022489.4(INF2):c.701+19G>A
|
rs371962265
|
0.00004
|
|
NM_022489.4(INF2):c.916C>T (p.Arg306Cys)
|
rs542700662
|
0.00004
|
|
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)
|
rs201021899
|
0.00003
|
|
NM_000278.5(PAX2):c.220G>A (p.Glu74Lys)
|
rs754146050
|
0.00003
|
|
NM_000278.5(PAX2):c.418C>A (p.Arg140=)
|
rs1217241110
|
0.00003
|
|
NM_000278.5(PAX2):c.43+13G>T
|
rs763464165
|
0.00003
|
|
NM_000278.5(PAX2):c.43+9C>A
|
rs747364450
|
0.00003
|
|
NM_000278.5(PAX2):c.793-12C>G
|
rs781099849
|
0.00003
|
|
NM_000278.5(PAX2):c.954C>T (p.Tyr318=)
|
rs78122364
|
0.00003
|
|
NM_000278.5(PAX2):c.96C>G (p.Pro32=)
|
rs757633295
|
0.00003
|
|
NM_004621.6(TRPC6):c.*1386C>G
|
rs375701506
|
0.00003
|
|
NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val)
|
rs201466403
|
0.00003
|
|
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=)
|
rs377172208
|
0.00003
|
|
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile)
|
rs201363468
|
0.00003
|
|
NM_004621.6(TRPC6):c.673C>G (p.Leu225Val)
|
rs201368333
|
0.00003
|
|
NM_004924.6(ACTN4):c.1276G>A (p.Glu426Lys)
|
rs752949932
|
0.00003
|
|
NM_004924.6(ACTN4):c.240C>T (p.Asp80=)
|
rs1179808544
|
0.00003
|
|
NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn)
|
rs750429771
|
0.00003
|
|
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=)
|
rs749956565
|
0.00003
|
|
NM_004924.6(ACTN4):c.2616C>T (p.Pro872=)
|
rs747925584
|
0.00003
|
|
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=)
|
rs149553440
|
0.00003
|
|
NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr)
|
rs775958627
|
0.00003
|
|
NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp)
|
rs149359240
|
0.00003
|
|
NM_018685.5(ANLN):c.1291C>T (p.Arg431Cys)
|
rs587777741
|
0.00003
|
|
NM_018685.5(ANLN):c.191C>G (p.Pro64Arg)
|
rs200238245
|
0.00003
|
|
NM_022489.4(INF2):c.*314G>A
|
rs921070326
|
0.00003
|
|
NM_022489.4(INF2):c.1146C>T (p.Ser382=)
|
rs756188227
|
0.00003
|
|
NM_022489.4(INF2):c.1254G>A (p.Ala418=)
|
rs1370627984
|
0.00003
|
|
NM_022489.4(INF2):c.1305C>T (p.Ala435=)
|
rs1396253816
|
0.00003
|
|
NM_022489.4(INF2):c.1389G>A (p.Leu463=)
|
rs1250341042
|
0.00003
|
|
NM_022489.4(INF2):c.1500G>A (p.Pro500=)
|
rs755670925
|
0.00003
|
|
NM_022489.4(INF2):c.1592C>T (p.Ala531Val)
|
rs200386025
|
0.00003
|
|
NM_022489.4(INF2):c.1821C>A (p.Ser607=)
|
rs751949801
|
0.00003
|
|
NM_022489.4(INF2):c.1848C>T (p.Pro616=)
|
rs779849550
|
0.00003
|
|
NM_022489.4(INF2):c.1949+18C>T
|
rs1484348980
|
0.00003
|
|
NM_022489.4(INF2):c.1949+3G>A
|
rs747818846
|
0.00003
|
|
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020
|
0.00003
|
|
NM_022489.4(INF2):c.2157G>A (p.Glu719=)
|
rs925997581
|
0.00003
|
|
NM_022489.4(INF2):c.2201T>G (p.Val734Gly)
|
rs754128624
|
0.00003
|
|
NM_022489.4(INF2):c.2310C>T (p.Tyr770=)
|
rs758454108
|
0.00003
|
|
NM_022489.4(INF2):c.2311-12T>C
|
rs558346235
|
0.00003
|
|
NM_022489.4(INF2):c.2311-4C>G
|
rs371953149
|
0.00003
|
|
NM_022489.4(INF2):c.2418+19G>A
|
rs770701500
|
0.00003
|
|
NM_022489.4(INF2):c.2510G>A (p.Arg837His)
|
rs374697429
|
0.00003
|
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
|
NM_022489.4(INF2):c.2682C>T (p.Ala894=)
|
rs770520588
|
0.00003
|
|
NM_022489.4(INF2):c.279C>T (p.Ser93=)
|
rs199769315
|
0.00003
|
|
NM_022489.4(INF2):c.2801C>T (p.Ala934Val)
|
rs1001885245
|
0.00003
|
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
|
NM_022489.4(INF2):c.2835G>A (p.Ala945=)
|
rs368074903
|
0.00003
|
|
NM_022489.4(INF2):c.2847G>A (p.Ala949=)
|
rs754546219
|
0.00003
|
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
|
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg)
|
rs551015347
|
0.00003
|
|
NM_022489.4(INF2):c.3223C>T (p.Arg1075Cys)
|
rs376685243
|
0.00003
|
|
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)
|
rs368869709
|
0.00003
|
|
NM_022489.4(INF2):c.3435C>T (p.Ala1145=)
|
rs780026536
|
0.00003
|
|
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)
|
rs755527335
|
0.00003
|
|
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val)
|
rs372714774
|
0.00003
|
|
NM_022489.4(INF2):c.392-8C>G
|
rs769195530
|
0.00003
|
|
NM_022489.4(INF2):c.580G>A (p.Val194Met)
|
rs368298329
|
0.00003
|
|
NM_022489.4(INF2):c.585C>T (p.Val195=)
|
rs759408802
|
0.00003
|
|
NM_022489.4(INF2):c.985+10C>T
|
rs755849718
|
0.00003
|
|
NM_173689.7(CRB2):c.2741C>T (p.Ala914Val)
|
rs1221877694
|
0.00003
|
|
NM_173689.7(CRB2):c.3190C>T (p.Pro1064Ser)
|
rs868484209
|
0.00003
|
|
NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser)
|
rs779586424
|
0.00003
|
|
NM_000278.5(PAX2):c.1021+181C>G
|
rs760189898
|
0.00002
|
|
NM_000278.5(PAX2):c.249C>T (p.Ile83=)
|
rs745467413
|
0.00002
|
|
NM_000278.5(PAX2):c.445C>T (p.Pro149Ser)
|
rs1401507282
|
0.00002
|
|
NM_000278.5(PAX2):c.976G>A (p.Gly326Ser)
|
rs375804552
|
0.00002
|
|
NM_001025616.3(ARHGAP24):c.892C>T (p.Arg298Cys)
|
rs143423680
|
0.00002
|
|
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe)
|
rs775521973
|
0.00002
|
|
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His)
|
rs777715086
|
0.00002
|
|
NM_004621.6(TRPC6):c.1294-4G>A
|
rs190191809
|
0.00002
|
|
NM_004621.6(TRPC6):c.2074G>A (p.Val692Ile)
|
rs202219188
|
0.00002
|
|
NM_004621.6(TRPC6):c.2574A>C (p.Ile858=)
|
rs751323115
|
0.00002
|
|
NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp)
|
rs1020273476
|
0.00002
|
|
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp)
|
rs375940461
|
0.00002
|
|
NM_004998.4(MYO1E):c.2334+5G>A
|
rs374917616
|
0.00002
|
|
NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile)
|
rs376817753
|
0.00002
|
|
NM_004998.4(MYO1E):c.433A>G (p.Ile145Val)
|
rs749937776
|
0.00002
|
|
NM_018685.5(ANLN):c.1138C>T (p.Arg380Cys)
|
rs201613256
|
0.00002
|
|
NM_022489.4(INF2):c.*288C>T
|
rs534561202
|
0.00002
|
|
NM_022489.4(INF2):c.1050G>A (p.Pro350=)
|
rs750840228
|
0.00002
|
|
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
|
rs762096939
|
0.00002
|
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
|
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
|
rs1208616690
|
0.00002
|
|
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu)
|
rs1375222598
|
0.00002
|
|
NM_022489.4(INF2):c.1405A>G (p.Met469Val)
|
rs1461056808
|
0.00002
|
|
NM_022489.4(INF2):c.1564C>T (p.Leu522=)
|
rs369895163
|
0.00002
|
|
NM_022489.4(INF2):c.1615G>A (p.Val539Met)
|
rs769014945
|
0.00002
|
|
NM_022489.4(INF2):c.1735+10C>T
|
rs772368953
|
0.00002
|
|
NM_022489.4(INF2):c.1736-19C>G
|
rs968695542
|
0.00002
|
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
|
NM_022489.4(INF2):c.1865G>A (p.Arg622Gln)
|
rs200155666
|
0.00002
|
|
NM_022489.4(INF2):c.1887+8C>T
|
rs569295413
|
0.00002
|
|
NM_022489.4(INF2):c.18C>T (p.Gly6=)
|
rs1032255653
|
0.00002
|
|
NM_022489.4(INF2):c.1965C>T (p.Val655=)
|
rs752090814
|
0.00002
|
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
|
NM_022489.4(INF2):c.2005G>A (p.Val669Met)
|
rs756038490
|
0.00002
|
|
NM_022489.4(INF2):c.2040C>T (p.Pro680=)
|
rs373736329
|
0.00002
|
|
NM_022489.4(INF2):c.2049C>T (p.His683=)
|
rs760045317
|
0.00002
|
|
NM_022489.4(INF2):c.2053-3C>T
|
rs754983807
|
0.00002
|
|
NM_022489.4(INF2):c.2311-15C>T
|
rs1430711592
|
0.00002
|
|
NM_022489.4(INF2):c.2376G>A (p.Lys792=)
|
rs1186010964
|
0.00002
|
|
NM_022489.4(INF2):c.2410G>A (p.Val804Met)
|
rs199979156
|
0.00002
|
|
NM_022489.4(INF2):c.2419-8C>A
|
rs372720253
|
0.00002
|
|
NM_022489.4(INF2):c.2424G>A (p.Ala808=)
|
rs761313685
|
0.00002
|
|
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro)
|
rs575569437
|
0.00002
|
|
NM_022489.4(INF2):c.255G>T (p.Ser85=)
|
rs369037445
|
0.00002
|
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
|
NM_022489.4(INF2):c.2775+13G>A
|
rs759589756
|
0.00002
|
|
NM_022489.4(INF2):c.2802G>A (p.Ala934=)
|
rs768008674
|
0.00002
|
|
NM_022489.4(INF2):c.288G>C (p.Leu96=)
|
rs557082203
|
0.00002
|
|
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)
|
rs748286029
|
0.00002
|
|
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn)
|
rs201180682
|
0.00002
|
|
NM_022489.4(INF2):c.2979C>T (p.Arg993=)
|
rs372735722
|
0.00002
|
|
NM_022489.4(INF2):c.3040+2T>C
|
rs1437272364
|
0.00002
|
|
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)
|
rs760488958
|
0.00002
|
|
NM_022489.4(INF2):c.3519C>T (p.Asp1173=)
|
rs767075044
|
0.00002
|
|
NM_022489.4(INF2):c.3558C>T (p.Asp1186=)
|
rs762019986
|
0.00002
|
|
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser)
|
rs201091360
|
0.00002
|
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
|
NM_022489.4(INF2):c.372C>T (p.Tyr124=)
|
rs368077298
|
0.00002
|
|
NM_022489.4(INF2):c.408C>T (p.Asn136=)
|
rs767069639
|
0.00002
|
|
NM_022489.4(INF2):c.564C>T (p.Ser188=)
|
rs746732992
|
0.00002
|
|
NM_022489.4(INF2):c.951C>A (p.Ser317Arg)
|
rs763642754
|
0.00002
|
|
NM_173689.7(CRB2):c.1054+2T>G
|
rs1225230645
|
0.00002
|
|
NM_000278.5(PAX2):c.1021+137C>T
|
rs1848496928
|
0.00001
|
|
NM_000278.5(PAX2):c.1021+141C>A
|
rs530216201
|
0.00001
|
|
NM_000278.5(PAX2):c.1021+183T>C
|
rs1211217411
|
0.00001
|
|
NM_000278.5(PAX2):c.1021+233A>T
|
rs606231415
|
0.00001
|
|
NM_000278.5(PAX2):c.1029G>C (p.Glu343Asp)
|
rs370756373
|
0.00001
|
|
NM_000278.5(PAX2):c.103G>A (p.Asp35Asn)
|
rs968200750
|
0.00001
|
|
NM_000278.5(PAX2):c.120C>T (p.Arg40=)
|
rs747639516
|
0.00001
|
|
NM_000278.5(PAX2):c.186C>T (p.His62=)
|
rs765130310
|
0.00001
|
|
NM_000278.5(PAX2):c.212+7G>T
|
rs745578557
|
0.00001
|
|
NM_000278.5(PAX2):c.213-17C>T
|
rs1158987891
|
0.00001
|
|
NM_000278.5(PAX2):c.276G>A (p.Thr92=)
|
rs775423295
|
0.00001
|
|
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu)
|
rs774231216
|
0.00001
|
|
NM_000278.5(PAX2):c.450G>A (p.Thr150=)
|
rs1386529275
|
0.00001
|
|
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln)
|
rs199919058
|
0.00001
|
|
NM_000278.5(PAX2):c.477C>T (p.Thr159=)
|
rs201775091
|
0.00001
|
|
NM_000278.5(PAX2):c.482C>T (p.Pro161Leu)
|
rs1403302124
|
0.00001
|
|
NM_000278.5(PAX2):c.506C>T (p.Thr169Met)
|
rs758091898
|
0.00001
|
|
NM_000278.5(PAX2):c.616+20T>C
|
rs779199563
|
0.00001
|
|
NM_000278.5(PAX2):c.616+4G>A
|
rs1490836600
|
0.00001
|
|
NM_000278.5(PAX2):c.616+5648T>C
|
rs747453876
|
0.00001
|
|
NM_000278.5(PAX2):c.735T>C (p.Phe245=)
|
rs746316295
|
0.00001
|
|
NM_000278.5(PAX2):c.740G>A (p.Arg247His)
|
rs747639879
|
0.00001
|
|
NM_000278.5(PAX2):c.757G>A (p.Val253Ile)
|
rs770703982
|
0.00001
|
|
NM_000278.5(PAX2):c.775C>A (p.His259Asn)
|
rs896457846
|
0.00001
|
|
NM_000278.5(PAX2):c.792+19G>A
|
rs765072775
|
0.00001
|
|
NM_000278.5(PAX2):c.793-3C>T
|
rs1291270344
|
0.00001
|
|
NM_000278.5(PAX2):c.803A>T (p.Tyr268Phe)
|
rs548691376
|
0.00001
|
|
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu)
|
rs757989097
|
0.00001
|
|
NM_000278.5(PAX2):c.885C>T (p.Asn295=)
|
rs768564591
|
0.00001
|
|
NM_000278.5(PAX2):c.907C>G (p.Pro303Ala)
|
rs761764477
|
0.00001
|
|
NM_000278.5(PAX2):c.945G>C (p.Leu315=)
|
rs1365331619
|
0.00001
|
|
NM_000278.5(PAX2):c.964G>A (p.Val322Met)
|
rs777775098
|
0.00001
|
|
NM_004621.6(TRPC6):c.*1020G>A
|
rs201292926
|
0.00001
|
|
NM_004621.6(TRPC6):c.*336C>T
|
rs199619303
|
0.00001
|
|
NM_004621.6(TRPC6):c.*3C>T
|
rs199566055
|
0.00001
|
|
NM_004621.6(TRPC6):c.-276G>A
|
rs1015092035
|
0.00001
|
|
NM_004621.6(TRPC6):c.-35G>A
|
rs886047538
|
0.00001
|
|
NM_004621.6(TRPC6):c.-406C>A
|
rs886047542
|
0.00001
|
|
NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val)
|
rs758348046
|
0.00001
|
|
NM_004621.6(TRPC6):c.18G>A (p.Ala6=)
|
rs891868712
|
0.00001
|
|
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr)
|
rs773581652
|
0.00001
|
|
NM_004621.6(TRPC6):c.2009+1G>A
|
rs199611561
|
0.00001
|
|
NM_004621.6(TRPC6):c.2410-11A>G
|
rs886047537
|
0.00001
|
|
NM_004621.6(TRPC6):c.364C>T (p.His122Tyr)
|
rs774329493
|
0.00001
|
|
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)
|
rs1451194842
|
0.00001
|
|
NM_004621.6(TRPC6):c.642A>G (p.Thr214=)
|
rs369124216
|
0.00001
|
|
NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn)
|
rs1565221149
|
0.00001
|
|
NM_004621.6(TRPC6):c.996C>T (p.Leu332=)
|
rs200144852
|
0.00001
|
|
NM_004924.6(ACTN4):c.1607G>A (p.Arg536His)
|
rs1388506902
|
0.00001
|
|
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=)
|
rs200269395
|
0.00001
|
|
NM_004924.6(ACTN4):c.190C>G (p.Leu64Val)
|
rs1478339393
|
0.00001
|
|
NM_004924.6(ACTN4):c.2011-4G>A
|
rs377158228
|
0.00001
|
|
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)
|
rs759055242
|
0.00001
|
|
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg)
|
rs754477143
|
0.00001
|
|
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu)
|
rs121908415
|
0.00001
|
|
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)
|
rs779765397
|
0.00001
|
|
NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val)
|
rs371914169
|
0.00001
|
|
NM_004998.4(MYO1E):c.1530+1266C>G
|
rs554952558
|
0.00001
|
|
NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr)
|
rs746688811
|
0.00001
|
|
NM_004998.4(MYO1E):c.2050-3C>T
|
rs776916643
|
0.00001
|
|
NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys)
|
rs765316403
|
0.00001
|
|
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=)
|
rs774695459
|
0.00001
|
|
NM_004998.4(MYO1E):c.2481-12A>G
|
rs370209627
|
0.00001
|
|
NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg)
|
rs372582214
|
0.00001
|
|
NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser)
|
rs542281660
|
0.00001
|
|
NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys)
|
rs753956205
|
0.00001
|
|
NM_004998.4(MYO1E):c.818C>T (p.Thr273Met)
|
rs766788690
|
0.00001
|
|
NM_018685.5(ANLN):c.2440A>G (p.Lys814Glu)
|
rs778238903
|
0.00001
|
|
NM_022489.4(INF2):c.*153C>T
|
rs899450753
|
0.00001
|
|
NM_022489.4(INF2):c.*232G>A
|
rs886050384
|
0.00001
|
|
NM_022489.4(INF2):c.*289G>A
|
rs755170084
|
0.00001
|
|
NM_022489.4(INF2):c.*358C>T
|
rs1312922081
|
0.00001
|
|
NM_022489.4(INF2):c.*815C>T
|
rs886050385
|
0.00001
|
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
|
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)
|
rs747903915
|
0.00001
|
|
NM_022489.4(INF2):c.1109G>T (p.Gly370Val)
|
rs772790262
|
0.00001
|
|
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe)
|
rs770882784
|
0.00001
|
|
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu)
|
rs776585357
|
0.00001
|
|
NM_022489.4(INF2):c.1119G>A (p.Pro373=)
|
rs759304513
|
0.00001
|
|
NM_022489.4(INF2):c.1152G>A (p.Glu384=)
|
rs1309305897
|
0.00001
|
|
NM_022489.4(INF2):c.1182C>T (p.Cys394=)
|
rs755392580
|
0.00001
|
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
|
NM_022489.4(INF2):c.1209G>C (p.Glu403Asp)
|
rs1235365370
|
0.00001
|
|
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly)
|
rs776536088
|
0.00001
|
|
NM_022489.4(INF2):c.1299C>T (p.Ser433=)
|
rs1431857911
|
0.00001
|
|
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln)
|
rs775331561
|
0.00001
|
|
NM_022489.4(INF2):c.1368A>G (p.Thr456=)
|
rs1371464168
|
0.00001
|
|
NM_022489.4(INF2):c.1414C>A (p.Pro472Thr)
|
rs1316096936
|
0.00001
|
|
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
|
rs1271375014
|
0.00001
|
|
NM_022489.4(INF2):c.1436C>T (p.Pro479Leu)
|
rs1203712573
|
0.00001
|
|
NM_022489.4(INF2):c.1437C>G (p.Pro479=)
|
rs1284032263
|
0.00001
|
|
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
|
rs1218562289
|
0.00001
|
|
NM_022489.4(INF2):c.1471C>T (p.Pro491Ser)
|
rs1378009593
|
0.00001
|
|
NM_022489.4(INF2):c.1484C>T (p.Pro495Leu)
|
rs756913857
|
0.00001
|
|
NM_022489.4(INF2):c.1488C>T (p.Gly496=)
|
rs1293404365
|
0.00001
|
|
NM_022489.4(INF2):c.1503C>T (p.Pro501=)
|
rs1057520913
|
0.00001
|
|
NM_022489.4(INF2):c.1516C>T (p.Leu506=)
|
rs747182187
|
0.00001
|
|
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
|
rs751942076
|
0.00001
|
|
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
|
rs186326868
|
0.00001
|
|
NM_022489.4(INF2):c.1601T>C (p.Met534Thr)
|
rs772037388
|
0.00001
|
|
NM_022489.4(INF2):c.1605G>A (p.Glu535=)
|
rs374316478
|
0.00001
|
|
NM_022489.4(INF2):c.1612A>G (p.Ile538Val)
|
rs377402690
|
0.00001
|
|
NM_022489.4(INF2):c.1646C>T (p.Ala549Val)
|
rs1191795011
|
0.00001
|
|
NM_022489.4(INF2):c.1665G>T (p.Arg555=)
|
rs765866844
|
0.00001
|
|
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
|
rs762313731
|
0.00001
|
|
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys)
|
rs775320095
|
0.00001
|
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
|
NM_022489.4(INF2):c.1878G>A (p.Glu626=)
|
rs766224685
|
0.00001
|
|
NM_022489.4(INF2):c.1887+9G>A
|
rs763172535
|
0.00001
|
|
NM_022489.4(INF2):c.1899C>T (p.Leu633=)
|
rs763044552
|
0.00001
|
|
NM_022489.4(INF2):c.1956C>T (p.Asn652=)
|
rs767304781
|
0.00001
|
|
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)
|
rs1047172155
|
0.00001
|
|
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp)
|
rs1378876029
|
0.00001
|
|
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766
|
0.00001
|
|
NM_022489.4(INF2):c.2004T>C (p.Asp668=)
|
rs750326369
|
0.00001
|
|
NM_022489.4(INF2):c.2052+14C>T
|
rs764509188
|
0.00001
|
|
NM_022489.4(INF2):c.2090A>T (p.Lys697Met)
|
rs1256555211
|
0.00001
|
|
NM_022489.4(INF2):c.2103C>T (p.Ala701=)
|
rs369998116
|
0.00001
|
|
NM_022489.4(INF2):c.2128G>C (p.Ala710Pro)
|
rs373806518
|
0.00001
|
|
NM_022489.4(INF2):c.2138+13G>A
|
rs758122662
|
0.00001
|
|
NM_022489.4(INF2):c.2150G>A (p.Arg717Gln)
|
rs769493931
|
0.00001
|
|
NM_022489.4(INF2):c.2166G>A (p.Leu722=)
|
rs1243602670
|
0.00001
|
|
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
|
rs1156240396
|
0.00001
|
|
NM_022489.4(INF2):c.2188G>A (p.Val730Met)
|
rs373199310
|
0.00001
|
|
NM_022489.4(INF2):c.2235C>T (p.Cys745=)
|
rs1439820692
|
0.00001
|
|
NM_022489.4(INF2):c.2239+9G>A
|
rs1413571611
|
0.00001
|
|
NM_022489.4(INF2):c.2240-9C>T
|
rs759780715
|
0.00001
|
|
NM_022489.4(INF2):c.2255G>A (p.Arg752His)
|
rs1450593874
|
0.00001
|
|
NM_022489.4(INF2):c.229C>T (p.Leu77=)
|
rs1409863695
|
0.00001
|
|
NM_022489.4(INF2):c.2301C>T (p.Phe767=)
|
rs900191744
|
0.00001
|
|
NM_022489.4(INF2):c.2310+8A>T
|
rs76748095
|
0.00001
|
|
NM_022489.4(INF2):c.2310_2310+2dup
|
rs1424859343
|
0.00001
|
|
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
|
rs774280485
|
0.00001
|
|
NM_022489.4(INF2):c.2328C>T (p.Asp776=)
|
rs771802606
|
0.00001
|
|
NM_022489.4(INF2):c.232C>T (p.Leu78=)
|
rs1417873293
|
0.00001
|
|
NM_022489.4(INF2):c.2389C>T (p.Arg797Cys)
|
rs941477086
|
0.00001
|
|
NM_022489.4(INF2):c.2390G>A (p.Arg797His)
|
rs200261709
|
0.00001
|
|
NM_022489.4(INF2):c.2415G>A (p.Leu805=)
|
rs779751728
|
0.00001
|
|
NM_022489.4(INF2):c.2418+20G>A
|
rs1470076316
|
0.00001
|
|
NM_022489.4(INF2):c.2419-15C>T
|
rs777686885
|
0.00001
|
|
NM_022489.4(INF2):c.2419-7A>G
|
rs749487696
|
0.00001
|
|
NM_022489.4(INF2):c.2489+13T>C
|
rs757174695
|
0.00001
|
|
NM_022489.4(INF2):c.2490-15C>A
|
rs775068618
|
0.00001
|
|
NM_022489.4(INF2):c.2491A>T (p.Ile831Phe)
|
rs751004003
|
0.00001
|
|
NM_022489.4(INF2):c.2550C>T (p.Thr850=)
|
rs771112980
|
0.00001
|
|
NM_022489.4(INF2):c.2551G>A (p.Glu851Lys)
|
rs776939784
|
0.00001
|
|
NM_022489.4(INF2):c.2553G>A (p.Glu851=)
|
rs368901958
|
0.00001
|
|
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
rs376094545
|
0.00001
|
|
NM_022489.4(INF2):c.2585A>G (p.Gln862Arg)
|
rs1471229828
|
0.00001
|
|
NM_022489.4(INF2):c.2595C>T (p.Tyr865=)
|
rs1244556036
|
0.00001
|
|
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
|
rs753660816
|
0.00001
|
|
NM_022489.4(INF2):c.2598C>T (p.Thr866=)
|
rs552110857
|
0.00001
|
|
NM_022489.4(INF2):c.2602C>T (p.Arg868Cys)
|
rs757230162
|
0.00001
|
|
NM_022489.4(INF2):c.2603G>A (p.Arg868His)
|
rs369698920
|
0.00001
|
|
NM_022489.4(INF2):c.2611-11C>T
|
rs760253897
|
0.00001
|
|
NM_022489.4(INF2):c.2611-12C>T
|
rs1057522725
|
0.00001
|
|
NM_022489.4(INF2):c.2611-7C>T
|
rs770565682
|
0.00001
|
|
NM_022489.4(INF2):c.261C>T (p.Arg87=)
|
rs761111655
|
0.00001
|
|
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
|
rs762706488
|
0.00001
|
|
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys)
|
rs1314746427
|
0.00001
|
|
NM_022489.4(INF2):c.2670A>G (p.Gln890=)
|
rs1890119204
|
0.00001
|
|
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp)
|
rs926222455
|
0.00001
|
|
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln)
|
rs777498088
|
0.00001
|
|
NM_022489.4(INF2):c.2673G>A (p.Arg891=)
|
rs938468023
|
0.00001
|
|
NM_022489.4(INF2):c.2701G>A (p.Ala901Thr)
|
rs775349897
|
0.00001
|
|
NM_022489.4(INF2):c.2727G>A (p.Thr909=)
|
rs1221995675
|
0.00001
|
|
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
|
rs774099930
|
0.00001
|
|
NM_022489.4(INF2):c.2769C>T (p.Ala923=)
|
rs370426339
|
0.00001
|
|
NM_022489.4(INF2):c.276C>T (p.Ile92=)
|
rs201652529
|
0.00001
|
|
NM_022489.4(INF2):c.2775+12C>T
|
rs200236783
|
0.00001
|
|
NM_022489.4(INF2):c.2775+16G>A
|
rs753203154
|
0.00001
|
|
NM_022489.4(INF2):c.2776-5T>C
|
rs1442200771
|
0.00001
|
|
NM_022489.4(INF2):c.2839G>A (p.Glu947Lys)
|
rs1182433339
|
0.00001
|
|
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
|
rs1243295333
|
0.00001
|
|
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala)
|
rs1473555311
|
0.00001
|
|
NM_022489.4(INF2):c.2849G>A (p.Arg950Gln)
|
rs978406474
|
0.00001
|
|
NM_022489.4(INF2):c.2851C>A (p.Arg951=)
|
rs1404467783
|
0.00001
|
|
NM_022489.4(INF2):c.2852G>A (p.Arg951Gln)
|
rs376506149
|
0.00001
|
|
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln)
|
rs1440140886
|
0.00001
|
|
NM_022489.4(INF2):c.2868C>T (p.Asp956=)
|
rs748088770
|
0.00001
|
|
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)
|
rs984879135
|
0.00001
|
|
NM_022489.4(INF2):c.2879-20G>C
|
rs879254306
|
0.00001
|
|
NM_022489.4(INF2):c.2879-3C>T
|
rs757145852
|
0.00001
|
|
NM_022489.4(INF2):c.2879-5C>T
|
rs746770947
|
0.00001
|
|
NM_022489.4(INF2):c.2908G>A (p.Val970Met)
|
rs977752085
|
0.00001
|
|
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
|
rs776214674
|
0.00001
|
|
NM_022489.4(INF2):c.2928G>A (p.Leu976=)
|
rs759214741
|
0.00001
|
|
NM_022489.4(INF2):c.2942G>A (p.Arg981Lys)
|
rs764912111
|
0.00001
|
|
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)
|
rs757988412
|
0.00001
|
|
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile)
|
rs377414980
|
0.00001
|
|
NM_022489.4(INF2):c.2988C>T (p.Thr996=)
|
rs1047869757
|
0.00001
|
|
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)
|
rs370719592
|
0.00001
|
|
NM_022489.4(INF2):c.3037C>A (p.Pro1013Thr)
|
rs1389268909
|
0.00001
|
|
NM_022489.4(INF2):c.3040+13C>T
|
rs770337742
|
0.00001
|
|
NM_022489.4(INF2):c.3041-3C>T
|
rs1157403781
|
0.00001
|
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134
|
0.00001
|
|
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)
|
rs1249757355
|
0.00001
|
|
NM_022489.4(INF2):c.3054C>T (p.Asn1018=)
|
rs983208436
|
0.00001
|
|
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)
|
rs762689516
|
0.00001
|
|
NM_022489.4(INF2):c.3083G>A (p.Arg1028His)
|
rs1368908308
|
0.00001
|
|
NM_022489.4(INF2):c.3090C>T (p.Pro1030=)
|
rs1306938117
|
0.00001
|
|
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp)
|
rs751648279
|
0.00001
|
|
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala)
|
rs1316234873
|
0.00001
|
|
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
|
rs746392134
|
0.00001
|
|
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414
|
0.00001
|
|
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys)
|
rs958862615
|
0.00001
|
|
NM_022489.4(INF2):c.3165C>T (p.Pro1055=)
|
rs766456624
|
0.00001
|
|
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg)
|
rs1407364340
|
0.00001
|
|
NM_022489.4(INF2):c.3190T>C (p.Leu1064=)
|
rs886050383
|
0.00001
|
|
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala)
|
rs202244190
|
0.00001
|
|
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829
|
0.00001
|
|
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=)
|
rs771664996
|
0.00001
|
|
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)
|
rs557741807
|
0.00001
|
|
NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu)
|
rs779176784
|
0.00001
|
|
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro)
|
rs1212327132
|
0.00001
|
|
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr)
|
rs200246759
|
0.00001
|
|
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)
|
rs775116734
|
0.00001
|
|
NM_022489.4(INF2):c.3405G>A (p.Thr1135=)
|
rs766390722
|
0.00001
|
|
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val)
|
rs759925463
|
0.00001
|
|
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile)
|
rs199640596
|
0.00001
|
|
NM_022489.4(INF2):c.3462C>T (p.Asp1154=)
|
rs1436685876
|
0.00001
|
|
NM_022489.4(INF2):c.3475C>T (p.Arg1159Cys)
|
rs564510154
|
0.00001
|
|
NM_022489.4(INF2):c.3494C>T (p.Ala1165Val)
|
rs771044828
|
0.00001
|
|
NM_022489.4(INF2):c.3501C>A (p.Gly1167=)
|
rs776977547
|
0.00001
|
|
NM_022489.4(INF2):c.3509G>A (p.Gly1170Glu)
|
rs776092624
|
0.00001
|
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
|
NM_022489.4(INF2):c.3537G>A (p.Thr1179=)
|
rs758215424
|
0.00001
|
|
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)
|
rs1064796974
|
0.00001
|
|
NM_022489.4(INF2):c.3597C>T (p.Thr1199=)
|
rs1160360427
|
0.00001
|
|
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
|
rs751351877
|
0.00001
|
|
NM_022489.4(INF2):c.3624C>T (p.Pro1208=)
|
rs1387927318
|
0.00001
|
|
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly)
|
rs989477091
|
0.00001
|
|
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300
|
0.00001
|
|
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro)
|
rs754128326
|
0.00001
|
|
NM_022489.4(INF2):c.368G>A (p.Gly123Asp)
|
rs994483790
|
0.00001
|
|
NM_022489.4(INF2):c.3712G>A (p.Asp1238Asn)
|
rs1290467030
|
0.00001
|
|
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro)
|
rs761808106
|
0.00001
|
|
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser)
|
rs555680535
|
0.00001
|
|
NM_022489.4(INF2):c.391+14T>C
|
rs1224355789
|
0.00001
|
|
NM_022489.4(INF2):c.392-14C>T
|
rs374558300
|
0.00001
|
|
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451
|
0.00001
|
|
NM_022489.4(INF2):c.410T>G (p.Val137Gly)
|
rs760611306
|
0.00001
|
|
NM_022489.4(INF2):c.475G>A (p.Val159Met)
|
rs781188543
|
0.00001
|
|
NM_022489.4(INF2):c.489C>T (p.Asp163=)
|
rs769080446
|
0.00001
|
|
NM_022489.4(INF2):c.508-10C>T
|
rs568890039
|
0.00001
|
|
NM_022489.4(INF2):c.509C>T (p.Thr170Met)
|
rs767698763
|
0.00001
|
|
NM_022489.4(INF2):c.516C>T (p.Cys172=)
|
rs1346247579
|
0.00001
|
|
NM_022489.4(INF2):c.549C>T (p.Asn183=)
|
rs1555373624
|
0.00001
|
|
NM_022489.4(INF2):c.559G>A (p.Gly187Ser)
|
rs772603803
|
0.00001
|
|
NM_022489.4(INF2):c.570C>T (p.Asn190=)
|
rs200662352
|
0.00001
|
|
NM_022489.4(INF2):c.571G>A (p.Val191Met)
|
rs1416500072
|
0.00001
|
|
NM_022489.4(INF2):c.579C>T (p.Tyr193=)
|
rs986330062
|
0.00001
|
|
NM_022489.4(INF2):c.610G>A (p.Val204Ile)
|
rs1049200069
|
0.00001
|
|
NM_022489.4(INF2):c.624C>T (p.Pro208=)
|
rs750610272
|
0.00001
|
|
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
|
rs748481552
|
0.00001
|
|
NM_022489.4(INF2):c.636C>T (p.Arg212=)
|
rs373383463
|
0.00001
|
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
|
NM_022489.4(INF2):c.651G>A (p.Leu217=)
|
rs780516674
|
0.00001
|
|
NM_022489.4(INF2):c.654G>T (p.Arg218=)
|
rs745354738
|
0.00001
|
|
NM_022489.4(INF2):c.667+11G>A
|
rs989845957
|
0.00001
|
|
NM_022489.4(INF2):c.667G>A (p.Gly223Arg)
|
rs1209201341
|
0.00001
|
|
NM_022489.4(INF2):c.695G>A (p.Arg232His)
|
rs767940514
|
0.00001
|
|
NM_022489.4(INF2):c.706C>G (p.Leu236Val)
|
rs774921607
|
0.00001
|
|
NM_022489.4(INF2):c.717C>T (p.Ala239=)
|
rs750808868
|
0.00001
|
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755
|
0.00001
|
|
NM_022489.4(INF2):c.745G>A (p.Glu249Lys)
|
rs375843743
|
0.00001
|
|
NM_022489.4(INF2):c.765C>T (p.Asp255=)
|
rs758423191
|
0.00001
|
|
NM_022489.4(INF2):c.76A>C (p.Thr26Pro)
|
rs1889488972
|
0.00001
|
|
NM_022489.4(INF2):c.782G>A (p.Arg261Gln)
|
rs749543418
|
0.00001
|
|
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701
|
0.00001
|
|
NM_022489.4(INF2):c.792C>T (p.Gly264=)
|
rs768718406
|
0.00001
|
|
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038
|
0.00001
|
|
NM_022489.4(INF2):c.807C>T (p.Ser269=)
|
rs1889769993
|
0.00001
|
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
|
NM_022489.4(INF2):c.844-11C>T
|
rs1413093278
|
0.00001
|
|
NM_022489.4(INF2):c.850T>C (p.Cys284Arg)
|
rs374935145
|
0.00001
|
|
NM_022489.4(INF2):c.858G>A (p.Pro286=)
|
rs762527373
|
0.00001
|
|
NM_022489.4(INF2):c.986-14A>G
|
rs774186716
|
0.00001
|
|
NM_022489.4(INF2):c.986-9C>G
|
rs761206810
|
0.00001
|
|
NM_022489.4(INF2):c.990G>A (p.Gln330=)
|
rs1454095905
|
0.00001
|
|
NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys)
|
rs202128397
|
0.00001
|
|
NM_173689.7(CRB2):c.2914C>T (p.Arg972Cys)
|
rs1236510733
|
0.00001
|
|
NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys)
|
rs770448714
|
0.00001
|
|
NM_173689.7(CRB2):c.3559A>C (p.Thr1187Pro)
|
rs1554785663
|
0.00001
|
|
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
|
|
|
|
NC_000009.11:g.(126129637_126129851)_(126136200_126136857)del
|
|
|
|
NC_000010.10:g.(?_102283594)_(102510668_?)del
|
|
|
|
NC_000010.10:g.(?_102510431)_(102510668_?)del
|
|
|
|
NC_000010.10:g.(?_102539235)_(102569013_?)dup
|
|
|
|
NC_000010.10:g.(?_102566167)_(102566382_?)del
|
|
|
|
NC_000010.10:g.(?_102566167)_(102566382_?)dup
|
|
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
|
|
NC_000014.8:g.(?_105167703)_(105213340_?)dup
|
|
|
|
NC_000014.8:g.(?_105167703)_(105861009_?)del
|
|
|
|
NC_000014.8:g.(?_105172352)_(105181676_?)dup
|
|
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
|
|
NC_000014.9:g.(?_104701356)_(104703963_?)del
|
|
|
|
NM_000278.5(PAX2):c.*52C>G
|
|
|
|
NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)
|
|
|
|
NM_000278.5(PAX2):c.1021+135G>C
|
rs2133985034
|
|
|
NM_000278.5(PAX2):c.1021+143C>G
|
|
|
|
NM_000278.5(PAX2):c.1021+167C>T
|
|
|
|
NM_000278.5(PAX2):c.1021+192C>G
|
|
|
|
NM_000278.5(PAX2):c.1021+192C>T
|
|
|
|
NM_000278.5(PAX2):c.1021+196G>A
|
|
|
|
NM_000278.5(PAX2):c.1021+210A>G
|
|
|
|
NM_000278.5(PAX2):c.1021+218C>T
|
rs2133985216
|
|
|
NM_000278.5(PAX2):c.1021+235T>C
|
rs1848500707
|
|
|
NM_000278.5(PAX2):c.1021+236G>C
|
|
|
|
NM_000278.5(PAX2):c.1021+238A>G
|
rs2133985249
|
|
|
NM_000278.5(PAX2):c.1021+243A>G
|
|
|
|
NM_000278.5(PAX2):c.1021+247C>T
|
|
|
|
NM_000278.5(PAX2):c.1022-18T>A
|
rs1429796359
|
|
|
NM_000278.5(PAX2):c.1022-4G>A
|
rs766520044
|
|
|
NM_000278.5(PAX2):c.1022G>T (p.Gly341Val)
|
|
|
|
NM_000278.5(PAX2):c.1023G>T (p.Gly341=)
|
|
|
|
NM_000278.5(PAX2):c.1026C>T (p.Ser342=)
|
|
|
|
NM_000278.5(PAX2):c.102C>T (p.Pro34=)
|
|
|
|
NM_000278.5(PAX2):c.103G>C (p.Asp35His)
|
|
|
|
NM_000278.5(PAX2):c.1041C>T (p.Asn347=)
|
|
|
|
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr)
|
rs1589910427
|
|
|
NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys)
|
rs2133989654
|
|
|
NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)
|
|
|
|
NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)
|
|
|
|
NM_000278.5(PAX2):c.115del (p.Gln39fs)
|
|
|
|
NM_000278.5(PAX2):c.117_121del (p.Gln39fs)
|
|
|
|
NM_000278.5(PAX2):c.123C>T (p.Ile41=)
|
rs771654993
|
|
|
NM_000278.5(PAX2):c.144T>C (p.Gly48=)
|
|
|
|
NM_000278.5(PAX2):c.148C>A (p.Arg50=)
|
|
|
|
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
|
rs759356936
|
|
|
NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)
|
|
|
|
NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_000278.5(PAX2):c.159C>T (p.Asp53=)
|
rs2133833930
|
|
|
NM_000278.5(PAX2):c.165C>T (p.Ser55=)
|
rs1845370334
|
|
|
NM_000278.5(PAX2):c.166C>T (p.Arg56Trp)
|
|
|
|
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)
|
rs587777708
|
|
|
NM_000278.5(PAX2):c.168G>A (p.Arg56=)
|
|
|
|
NM_000278.5(PAX2):c.174G>A (p.Leu58=)
|
rs1386738065
|
|
|
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)
|
rs2133833948
|
|
|
NM_000278.5(PAX2):c.177G>A (p.Arg59=)
|
|
|
|
NM_000278.5(PAX2):c.182G>A (p.Ser61Asn)
|
rs2133833987
|
|
|
NM_000278.5(PAX2):c.194T>C (p.Val65Ala)
|
|
|
|
NM_000278.5(PAX2):c.198C>G (p.Ser66Arg)
|
|
|
|
NM_000278.5(PAX2):c.1A>G (p.Met1Val)
|
rs767150408
|
|
|
NM_000278.5(PAX2):c.204C>T (p.Ile68=)
|
|
|
|
NM_000278.5(PAX2):c.212+18G>A
|
|
|
|
NM_000278.5(PAX2):c.212+1G>T
|
|
|
|
NM_000278.5(PAX2):c.212+5G>A
|
|
|
|
NM_000278.5(PAX2):c.212G>T (p.Arg71Met)
|
|
|
|
NM_000278.5(PAX2):c.213-11T>C
|
|
|
|
NM_000278.5(PAX2):c.213-13T>C
|
|
|
|
NM_000278.5(PAX2):c.213-16G>A
|
|
|
|
NM_000278.5(PAX2):c.213-4G>T
|
rs750607196
|
|
|
NM_000278.5(PAX2):c.213-8C>A
|
|
|
|
NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla)
|
|
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
|
NM_000278.5(PAX2):c.225C>T (p.Thr75=)
|
|
|
|
NM_000278.5(PAX2):c.225del (p.Gly76fs)
|
|
|
|
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)
|
rs79555199
|
|
|
NM_000278.5(PAX2):c.227dup (p.Ser77fs)
|
|
|
|
NM_000278.5(PAX2):c.234C>A (p.Ile78=)
|
|
|
|
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.240G>A (p.Pro80=)
|
rs576772135
|
|
|
NM_000278.5(PAX2):c.242del (p.Gly81fs)
|
|
|
|
NM_000278.5(PAX2):c.244G>T (p.Val82Leu)
|
rs2133836298
|
|
|
NM_000278.5(PAX2):c.248T>C (p.Ile83Thr)
|
rs2133836322
|
|
|
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser)
|
rs2133836340
|
|
|
NM_000278.5(PAX2):c.263C>A (p.Pro88His)
|
rs1845410479
|
|
|
NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)
|
|
|
|
NM_000278.5(PAX2):c.263C>T (p.Pro88Leu)
|
rs1845410479
|
|
|
NM_000278.5(PAX2):c.272C>T (p.Ala91Val)
|
rs1589813617
|
|
|
NM_000278.5(PAX2):c.273G>A (p.Ala91=)
|
|
|
|
NM_000278.5(PAX2):c.273G>C (p.Ala91=)
|
|
|
|
NM_000278.5(PAX2):c.285G>A (p.Val95=)
|
rs749059507
|
|
|
NM_000278.5(PAX2):c.310C>A (p.Arg104=)
|
|
|
|
NM_000278.5(PAX2):c.311G>A (p.Arg104Gln)
|
|
|
|
NM_000278.5(PAX2):c.326T>C (p.Met109Thr)
|
|
|
|
NM_000278.5(PAX2):c.327G>A (p.Met109Ile)
|
|
|
|
NM_000278.5(PAX2):c.337G>A (p.Glu113Lys)
|
rs1481932003
|
|
|
NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)
|
rs1845412705
|
|
|
NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)
|
|
|
|
NM_000278.5(PAX2):c.350G>C (p.Arg117Pro)
|
rs773306707
|
|
|
NM_000278.5(PAX2):c.352C>G (p.Leu118Val)
|
|
|
|
NM_000278.5(PAX2):c.356T>C (p.Leu119Pro)
|
rs1589813707
|
|
|
NM_000278.5(PAX2):c.358dup (p.Ala120fs)
|
|
|
|
NM_000278.5(PAX2):c.361G>A (p.Glu121Lys)
|
|
|
|
NM_000278.5(PAX2):c.361G>C (p.Glu121Gln)
|
rs1162043378
|
|
|
NM_000278.5(PAX2):c.367A>G (p.Ile123Val)
|
|
|
|
NM_000278.5(PAX2):c.36G>C (p.Ala12=)
|
|
|
|
NM_000278.5(PAX2):c.374A>T (p.Asp125Val)
|
rs2133836581
|
|
|
NM_000278.5(PAX2):c.383_384del (p.Thr128fs)
|
|
|
|
NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)
|
|
|
|
NM_000278.5(PAX2):c.410+14C>G
|
rs1845416446
|
|
|
NM_000278.5(PAX2):c.410+19T>C
|
rs2133836724
|
|
|
NM_000278.5(PAX2):c.410+3G>A
|
|
|
|
NM_000278.5(PAX2):c.411-14_411-10dup
|
rs1227571557
|
|
|
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)
|
rs1217241110
|
|
|
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)
|
rs865906227
|
|
|
NM_000278.5(PAX2):c.43+10G>A
|
|
|
|
NM_000278.5(PAX2):c.43+10G>C
|
rs4472867
|
|
|
NM_000278.5(PAX2):c.43+12C>A
|
|
|
|
NM_000278.5(PAX2):c.43+12C>G
|
|
|
|
NM_000278.5(PAX2):c.43+1G>A
|
|
|
|
NM_000278.5(PAX2):c.43+1G>T
|
|
|
|
NM_000278.5(PAX2):c.43+20T>C
|
|
|
|
NM_000278.5(PAX2):c.43+3G>A
|
|
|
|
NM_000278.5(PAX2):c.43+5G>A
|
rs878853000
|
|
|
NM_000278.5(PAX2):c.430C>T (p.Gln144Ter)
|
rs2133894054
|
|
|
NM_000278.5(PAX2):c.432G>T (p.Gln144His)
|
|
|
|
NM_000278.5(PAX2):c.44-12_44-8dup
|
rs1845364215
|
|
|
NM_000278.5(PAX2):c.44-2A>G
|
|
|
|
NM_000278.5(PAX2):c.44-8C>G
|
|
|
|
NM_000278.5(PAX2):c.449C>T (p.Thr150Met)
|
|
|
|
NM_000278.5(PAX2):c.451C>G (p.Pro151Ala)
|
|
|
|
NM_000278.5(PAX2):c.452C>T (p.Pro151Leu)
|
rs199919058
|
|
|
NM_000278.5(PAX2):c.453G>A (p.Pro151=)
|
rs199876625
|
|
|
NM_000278.5(PAX2):c.460G>A (p.Ala154Thr)
|
rs778742674
|
|
|
NM_000278.5(PAX2):c.461C>T (p.Ala154Val)
|
|
|
|
NM_000278.5(PAX2):c.477C>G (p.Thr159=)
|
rs201775091
|
|
|
NM_000278.5(PAX2):c.483del (p.Gly162fs)
|
rs2133894273
|
|
|
NM_000278.5(PAX2):c.48G>A (p.Gly16=)
|
rs2133833487
|
|
|
NM_000278.5(PAX2):c.490A>G (p.Thr164Ala)
|
rs2133894286
|
|
|
NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)
|
|
|
|
NM_000278.5(PAX2):c.496+15G>C
|
|
|
|
NM_000278.5(PAX2):c.496+7G>A
|
|
|
|
NM_000278.5(PAX2):c.496+8G>C
|
|
|
|
NM_000278.5(PAX2):c.497-9C>G
|
|
|
|
NM_000278.5(PAX2):c.497T>C (p.Val166Ala)
|
rs764844605
|
|
|
NM_000278.5(PAX2):c.501C>T (p.Pro167=)
|
|
|
|
NM_000278.5(PAX2):c.507G>A (p.Thr169=)
|
rs149682559
|
|
|
NM_000278.5(PAX2):c.507G>T (p.Thr169=)
|
rs149682559
|
|
|
NM_000278.5(PAX2):c.510C>T (p.Ala170=)
|
|
|
|
NM_000278.5(PAX2):c.520G>A (p.Val174Ile)
|
|
|
|
NM_000278.5(PAX2):c.527G>C (p.Ser176Thr)
|
|
|
|
NM_000278.5(PAX2):c.533C>G (p.Ser178Cys)
|
rs2133897760
|
|
|
NM_000278.5(PAX2):c.538G>A (p.Asp180Asn)
|
rs1846612619
|
|
|
NM_000278.5(PAX2):c.54G>T (p.Gly18=)
|
|
|
|
NM_000278.5(PAX2):c.550T>A (p.Ser184Thr)
|
|
|
|
NM_000278.5(PAX2):c.551C>A (p.Ser184Tyr)
|
|
|
|
NM_000278.5(PAX2):c.562A>G (p.Asn188Asp)
|
|
|
|
NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)
|
rs1131692055
|
|
|
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg)
|
rs1589848170
|
|
|
NM_000278.5(PAX2):c.585C>A (p.Arg195=)
|
|
|
|
NM_000278.5(PAX2):c.587C>T (p.Ser196Phe)
|
|
|
|
NM_000278.5(PAX2):c.595G>C (p.Glu199Gln)
|
rs1262508509
|
|
|
NM_000278.5(PAX2):c.607C>T (p.Arg203Cys)
|
|
|
|
NM_000278.5(PAX2):c.608G>A (p.Arg203His)
|
|
|
|
NM_000278.5(PAX2):c.608G>C (p.Arg203Pro)
|
rs201089410
|
|
|
NM_000278.5(PAX2):c.616+14A>C
|
rs749404379
|
|
|
NM_000278.5(PAX2):c.616+14A>G
|
rs749404379
|
|
|
NM_000278.5(PAX2):c.616+5649A>C
|
|
|
|
NM_000278.5(PAX2):c.638C>G (p.Pro213Arg)
|
|
|
|
NM_000278.5(PAX2):c.648T>G (p.Asp216Glu)
|
rs1564737100
|
|
|
NM_000278.5(PAX2):c.656G>A (p.Ser219Asn)
|
rs200491094
|
|
|
NM_000278.5(PAX2):c.656G>C (p.Ser219Thr)
|
|
|
|
NM_000278.5(PAX2):c.659G>A (p.Gly220Asp)
|
|
|
|
NM_000278.5(PAX2):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_000278.5(PAX2):c.673C>T (p.Arg225Trp)
|
|
|
|
NM_000278.5(PAX2):c.680A>G (p.His227Arg)
|
|
|
|
NM_000278.5(PAX2):c.685C>A (p.Arg229=)
|
|
|
|
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)
|
rs76492282
|
|
|
NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)
|
|
|
|
NM_000278.5(PAX2):c.699C>T (p.Phe233=)
|
rs2133950417
|
|
|
NM_000278.5(PAX2):c.69C>T (p.Leu23=)
|
|
|
|
NM_000278.5(PAX2):c.706C>A (p.Gln236Lys)
|
rs75399846
|
|
|
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg)
|
rs1845366198
|
|
|
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg)
|
rs1845366198
|
|
|
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala)
|
rs201239919
|
|
|
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
|
|
|
|
NM_000278.5(PAX2):c.728G>A (p.Arg243Gln)
|
rs147636578
|
|
|
NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)
|
|
|
|
NM_000278.5(PAX2):c.72G>A (p.Gly24=)
|
rs2133833617
|
|
|
NM_000278.5(PAX2):c.732C>T (p.Val244=)
|
|
|
|
NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)
|
|
|
|
NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)
|
|
|
|
NM_000278.5(PAX2):c.75G>T (p.Gly25=)
|
rs371041678
|
|
|
NM_000278.5(PAX2):c.76G>A (p.Val26Met)
|
|
|
|
NM_000278.5(PAX2):c.76G>C (p.Val26Leu)
|
rs1022509510
|
|
|
NM_000278.5(PAX2):c.76G>T (p.Val26Leu)
|
rs1022509510
|
|
|
NM_000278.5(PAX2):c.76del (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.785C>A (p.Ser262Ter)
|
rs2133950621
|
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
|
NM_000278.5(PAX2):c.792+16T>C
|
|
|
|
NM_000278.5(PAX2):c.792+2T>C
|
|
|
|
NM_000278.5(PAX2):c.793-14del
|
|
|
|
NM_000278.5(PAX2):c.793-15TC[3]
|
|
|
|
NM_000278.5(PAX2):c.793G>C (p.Gly265Arg)
|
rs1847901504
|
|
|
NM_000278.5(PAX2):c.794G>A (p.Gly265Glu)
|
rs1847901674
|
|
|
NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser)
|
|
|
|
NM_000278.5(PAX2):c.812C>G (p.Pro271Arg)
|
|
|
|
NM_000278.5(PAX2):c.814G>A (p.Ala272Thr)
|
rs762149868
|
|
|
NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)
|
|
|
|
NM_000278.5(PAX2):c.846G>A (p.Ser282=)
|
|
|
|
NM_000278.5(PAX2):c.858A>G (p.Ala286=)
|
|
|
|
NM_000278.5(PAX2):c.869del (p.Pro290fs)
|
rs2133956351
|
|
|
NM_000278.5(PAX2):c.879C>A (p.Gly293=)
|
|
|
|
NM_000278.5(PAX2):c.886G>A (p.Val296Met)
|
|
|
|
NM_000278.5(PAX2):c.888G>T (p.Val296=)
|
|
|
|
NM_000278.5(PAX2):c.8T>A (p.Met3Lys)
|
rs754968736
|
|
|
NM_000278.5(PAX2):c.8T>C (p.Met3Thr)
|
|
|
|
NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter)
|
rs2133956435
|
|
|
NM_000278.5(PAX2):c.915G>C (p.Val305=)
|
|
|
|
NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)
|
|
|
|
NM_000278.5(PAX2):c.919+20G>T
|
|
|
|
NM_000278.5(PAX2):c.920-4C>T
|
|
|
|
NM_000278.5(PAX2):c.922C>T (p.Arg308Cys)
|
|
|
|
NM_000278.5(PAX2):c.923G>A (p.Arg308His)
|
|
|
|
NM_000278.5(PAX2):c.92G>A (p.Arg31Gln)
|
|
|
|
NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000278.5(PAX2):c.933G>A (p.Ala311=)
|
|
|
|
NM_000278.5(PAX2):c.957C>G (p.Pro319=)
|
|
|
|
NM_000278.5(PAX2):c.959C>G (p.Pro320Arg)
|
|
|
|
NM_000278.5(PAX2):c.959dup (p.His321fs)
|
|
|
|
NM_000278.5(PAX2):c.967C>T (p.Pro323Ser)
|
|
|
|
NM_000278.5(PAX2):c.975T>A (p.Thr325=)
|
|
|
|
NM_000278.5(PAX2):c.97del (p.Leu33fs)
|
|
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
|
NM_004621.6(TRPC6):c.*1032A>G
|
rs1858771912
|
|
|
NM_004621.6(TRPC6):c.*1089C>T
|
rs117895343
|
|
|
NM_004621.6(TRPC6):c.*1147A>G
|
rs1858769601
|
|
|
NM_004621.6(TRPC6):c.*1176T>C
|
rs886047535
|
|
|
NM_004621.6(TRPC6):c.*1349T>C
|
rs180930016
|
|
|
NM_004621.6(TRPC6):c.*147T>C
|
rs868215324
|
|
|
NM_004621.6(TRPC6):c.*293G>C
|
rs1858789155
|
|
|
NM_004621.6(TRPC6):c.*507T>A
|
rs202210629
|
|
|
NM_004621.6(TRPC6):c.*820C>T
|
rs1858777078
|
|
|
NM_004621.6(TRPC6):c.*821C>T
|
rs886047536
|
|
|
NM_004621.6(TRPC6):c.*960G>C
|
rs138558920
|
|
|
NM_004621.6(TRPC6):c.-244T>C
|
rs200535998
|
|
|
NM_004621.6(TRPC6):c.-264C>G
|
rs1199336137
|
|
|
NM_004621.6(TRPC6):c.-317C>G
|
rs886047540
|
|
|
NM_004621.6(TRPC6):c.-344C>G
|
rs867713895
|
|
|
NM_004621.6(TRPC6):c.-352C>G
|
rs201260623
|
|
|
NM_004621.6(TRPC6):c.-360T>C
|
rs192759166
|
|
|
NM_004621.6(TRPC6):c.-424G>T
|
rs17096920
|
|
|
NM_004621.6(TRPC6):c.101T>C (p.Met34Thr)
|
rs758531773
|
|
|
NM_004621.6(TRPC6):c.1090dup (p.Ser364fs)
|
|
|
|
NM_004621.6(TRPC6):c.114G>A (p.Leu38=)
|
rs374371372
|
|
|
NM_004621.6(TRPC6):c.1190G>A (p.Gly397Asp)
|
|
|
|
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=)
|
rs144085223
|
|
|
NM_004621.6(TRPC6):c.128G>T (p.Cys43Phe)
|
rs2136909652
|
|
|
NM_004621.6(TRPC6):c.1344C>A (p.Ala448=)
|
rs554849365
|
|
|
NM_004621.6(TRPC6):c.1394T>C (p.Phe465Ser)
|
rs2136690942
|
|
|
NM_004621.6(TRPC6):c.1486A>T (p.Met496Leu)
|
|
|
|
NM_004621.6(TRPC6):c.1513A>G (p.Met505Val)
|
rs1859421755
|
|
|
NM_004621.6(TRPC6):c.1528T>G (p.Cys510Gly)
|
|
|
|
NM_004621.6(TRPC6):c.1584G>A (p.Met528Ile)
|
|
|
|
NM_004621.6(TRPC6):c.170+5G>C
|
|
|
|
NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly)
|
rs200107149
|
|
|
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr)
|
rs775034304
|
|
|
NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs)
|
rs780501413
|
|
|
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)
|
|
|
|
NM_004621.6(TRPC6):c.2091C>A (p.His697Gln)
|
|
|
|
NM_004621.6(TRPC6):c.2093A>G (p.Lys698Arg)
|
|
|
|
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)
|
rs145077205
|
|
|
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=)
|
rs145077205
|
|
|
NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu)
|
rs371919016
|
|
|
NM_004621.6(TRPC6):c.2205+9T>G
|
rs190441617
|
|
|
NM_004621.6(TRPC6):c.2304G>T (p.Pro768=)
|
rs201608841
|
|
|
NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs)
|
|
|
|
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp)
|
rs1858853619
|
|
|
NM_004621.6(TRPC6):c.2592_2595dup (p.Tyr866fs)
|
|
|
|
NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs)
|
|
|
|
NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter)
|
rs121434393
|
|
|
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter)
|
rs1858816107
|
|
|
NM_004621.6(TRPC6):c.2643dup (p.Gly882fs)
|
rs1858816064
|
|
|
NM_004621.6(TRPC6):c.2645-22_2645-20del
|
rs59743346
|
|
|
NM_004621.6(TRPC6):c.2665del (p.Gln889fs)
|
|
|
|
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile)
|
rs1565221699
|
|
|
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)
|
rs1591517921
|
|
|
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)
|
rs121434394
|
|
|
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)
|
rs1591517912
|
|
|
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)
|
rs121434395
|
|
|
NM_004621.6(TRPC6):c.2692C>G (p.Leu898Val)
|
|
|
|
NM_004621.6(TRPC6):c.2694_2696del (p.Leu899del)
|
rs2136635187
|
|
|
NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu)
|
rs770014593
|
|
|
NM_004621.6(TRPC6):c.2794T>A (p.Ter932Lys)
|
rs1858797162
|
|
|
NM_004621.6(TRPC6):c.304T>C (p.Phe102Leu)
|
|
|
|
NM_004621.6(TRPC6):c.317dup (p.Ala106_Glu107insTer)
|
|
|
|
NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln)
|
rs121434390
|
|
|
NM_004621.6(TRPC6):c.336A>C (p.Pro112=)
|
rs201818043
|
|
|
NM_004621.6(TRPC6):c.351G>A (p.Met117Ile)
|
|
|
|
NM_004621.6(TRPC6):c.368C>G (p.Ser123Ter)
|
|
|
|
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)
|
|
|
|
NM_004621.6(TRPC6):c.434A>G (p.His145Arg)
|
rs1565221486
|
|
|
NM_004621.6(TRPC6):c.478C>T (p.Arg160Ter)
|
|
|
|
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys)
|
rs1555003819
|
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
|
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly)
|
rs768210838
|
|
|
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln)
|
rs1860201767
|
|
|
NM_004621.6(TRPC6):c.758G>A (p.Cys253Tyr)
|
|
|
|
NM_004621.6(TRPC6):c.808T>A (p.Ser270Thr)
|
rs121434392
|
|
|
NM_004621.6(TRPC6):c.923C>A (p.Ala308Asp)
|
|
|
|
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)
|
|
|
|
NM_004924.6(ACTN4):c.1149C>G (p.Ile383Met)
|
|
|
|
NM_004924.6(ACTN4):c.1315C>T (p.Arg439Trp)
|
|
|
|
NM_004924.6(ACTN4):c.1342G>T (p.Asp448Tyr)
|
|
|
|
NM_004924.6(ACTN4):c.162+61T>C
|
rs2303040
|
|
|
NM_004924.6(ACTN4):c.163-9C>T
|
|
|
|
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg)
|
rs1968240092
|
|
|
NM_004924.6(ACTN4):c.1768A>G (p.Ile590Val)
|
rs865815931
|
|
|
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser)
|
rs777000965
|
|
|
NM_004924.6(ACTN4):c.2418+28A>G
|
rs12981131
|
|
|
NM_004924.6(ACTN4):c.2577+5G>A
|
|
|
|
NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu)
|
rs113969422
|
|
|
NM_004924.6(ACTN4):c.277+29G>C
|
rs2112649
|
|
|
NM_004924.6(ACTN4):c.283C>T (p.Arg95Trp)
|
|
|
|
NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)
|
|
|
|
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)
|
rs1568723797
|
|
|
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)
|
|
|
|
NM_004924.6(ACTN4):c.510_512del (p.Leu171del)
|
rs1568725026
|
|
|
NM_004924.6(ACTN4):c.517T>C (p.Cys173Arg)
|
|
|
|
NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp)
|
rs878853159
|
|
|
NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)
|
|
|
|
NM_004924.6(ACTN4):c.652-34G>T
|
rs58197765
|
|
|
NM_004924.6(ACTN4):c.655G>A (p.Asp219Asn)
|
|
|
|
NM_004924.6(ACTN4):c.665C>G (p.Thr222Ser)
|
|
|
|
NM_004924.6(ACTN4):c.718A>G (p.Met240Val)
|
|
|
|
NM_004924.6(ACTN4):c.719T>C (p.Met240Thr)
|
rs1114167420
|
|
|
NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)
|
|
|
|
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile)
|
rs121908416
|
|
|
NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro)
|
rs121908417
|
|
|
NM_004998.4(MYO1E):c.1080C>T (p.His360=)
|
|
|
|
NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln)
|
|
|
|
NM_004998.4(MYO1E):c.141C>G (p.Tyr47Ter)
|
|
|
|
NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr)
|
rs372880204
|
|
|
NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)
|
|
|
|
NM_004998.4(MYO1E):c.2050-400G>C
|
|
|
|
NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser)
|
rs1596351849
|
|
|
NM_004998.4(MYO1E):c.2062G>C (p.Glu688Gln)
|
|
|
|
NM_004998.4(MYO1E):c.2085T>G (p.Tyr695Ter)
|
rs778868018
|
|
|
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC
|
rs2140317179
|
|
|
NM_004998.4(MYO1E):c.2335-465C>G
|
|
|
|
NM_004998.4(MYO1E):c.2350C>A (p.Leu784Met)
|
|
|
|
NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala)
|
rs757642502
|
|
|
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)
|
rs147596471
|
|
|
NM_004998.4(MYO1E):c.2878+18C>T
|
rs759274124
|
|
|
NM_004998.4(MYO1E):c.2908C>T (p.Gln970Ter)
|
rs2079495070
|
|
|
NM_004998.4(MYO1E):c.475G>C (p.Ala159Pro)
|
rs387906807
|
|
|
NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp)
|
|
|
|
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter)
|
rs1427276872
|
|
|
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu)
|
rs1464796596
|
|
|
NM_018685.5(ANLN):c.*3C>T
|
rs2052197
|
|
|
NM_018685.5(ANLN):c.1216G>C (p.Ala406Pro)
|
|
|
|
NM_018685.5(ANLN):c.1547A>T (p.Lys516Ile)
|
|
|
|
NM_018685.5(ANLN):c.1588A>C (p.Lys530Gln)
|
rs2116638569
|
|
|
NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys)
|
rs1184529372
|
|
|
NM_018685.5(ANLN):c.1979A>G (p.Asp660Gly)
|
rs1787820175
|
|
|
NM_018685.5(ANLN):c.2163+69del
|
rs56075305
|
|
|
NM_018685.5(ANLN):c.2405del (p.Gly802fs)
|
rs1787929800
|
|
|
NM_018685.5(ANLN):c.2749-3del
|
rs200742993
|
|
|
NM_018685.5(ANLN):c.2749-3dup
|
rs200742993
|
|
|
NM_018685.5(ANLN):c.28G>A (p.Glu10Lys)
|
|
|
|
NM_018685.5(ANLN):c.3010C>T (p.Arg1004Ter)
|
|
|
|
NM_018685.5(ANLN):c.3035A>T (p.Asn1012Ile)
|
|
|
|
NM_018685.5(ANLN):c.3158G>A (p.Arg1053His)
|
|
|
|
NM_018685.5(ANLN):c.65A>G (p.Lys22Arg)
|
rs2116507412
|
|
|
NM_018685.5(ANLN):c.883_885dup (p.Ser295dup)
|
rs61549495
|
|
|
NM_018685.5(ANLN):c.896C>A (p.Ser299Tyr)
|
|
|
|
NM_020401.4(NUP107):c.1781G>A (p.Cys594Tyr)
|
rs1877805683
|
|
|
NM_022489.4(INF2):c.*187C>T
|
rs1056002023
|
|
|
NM_022489.4(INF2):c.*25A>G
|
rs541048885
|
|
|
NM_022489.4(INF2):c.*396G>T
|
rs1890456253
|
|
|
NM_022489.4(INF2):c.*503C>T
|
rs1890461695
|
|
|
NM_022489.4(INF2):c.-50G>A
|
rs886050379
|
|
|
NM_022489.4(INF2):c.-88G>C
|
rs551124491
|
|
|
NM_022489.4(INF2):c.1005G>A (p.Glu335=)
|
|
|
|
NM_022489.4(INF2):c.1010T>A (p.Val337Glu)
|
|
|
|
NM_022489.4(INF2):c.1018C>A (p.Arg340=)
|
|
|
|
NM_022489.4(INF2):c.1020G>T (p.Arg340=)
|
|
|
|
NM_022489.4(INF2):c.102C>T (p.Asp34=)
|
rs2140638234
|
|
|
NM_022489.4(INF2):c.1039C>T (p.Arg347Ter)
|
rs2140666903
|
|
|
NM_022489.4(INF2):c.1044C>T (p.Pro348=)
|
|
|
|
NM_022489.4(INF2):c.1049C>A (p.Pro350Gln)
|
|
|
|
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
|
rs1889825135
|
|
|
NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)
|
|
|
|
NM_022489.4(INF2):c.1076G>A (p.Ser359Asn)
|
|
|
|
NM_022489.4(INF2):c.1077C>T (p.Ser359=)
|
|
|
|
NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)
|
|
|
|
NM_022489.4(INF2):c.1095C>A (p.Asp365Glu)
|
rs2140667164
|
|
|
NM_022489.4(INF2):c.1101C>T (p.Ser367=)
|
rs1447003375
|
|
|
NM_022489.4(INF2):c.1103A>G (p.Gln368Arg)
|
rs1481694989
|
|
|
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
|
rs1889828741
|
|
|
NM_022489.4(INF2):c.1110C>A (p.Gly370=)
|
rs2140667246
|
|
|
NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)
|
|
|
|
NM_022489.4(INF2):c.111G>A (p.Leu37=)
|
|
|
|
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)
|
rs376942822
|
|
|
NM_022489.4(INF2):c.1128T>C (p.Thr376=)
|
|
|
|
NM_022489.4(INF2):c.1133C>A (p.Thr378Asn)
|
|
|
|
NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_022489.4(INF2):c.1177G>C (p.Ala393Pro)
|
rs2140667487
|
|
|
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln)
|
rs374769850
|
|
|
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
|
rs1416561484
|
|
|
NM_022489.4(INF2):c.1188C>G (p.Pro396=)
|
rs747696039
|
|
|
NM_022489.4(INF2):c.1188C>T (p.Pro396=)
|
rs747696039
|
|
|
NM_022489.4(INF2):c.1193A>G (p.Asp398Gly)
|
|
|
|
NM_022489.4(INF2):c.119G>C (p.Arg40Pro)
|
rs1437016055
|
|
|
NM_022489.4(INF2):c.1211G>T (p.Ser404Ile)
|
rs759535604
|
|
|
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
|
|
|
|
NM_022489.4(INF2):c.1221A>T (p.Lys407Asn)
|
|
|
|
NM_022489.4(INF2):c.1224T>C (p.Val408=)
|
rs2140667715
|
|
|
NM_022489.4(INF2):c.1225T>A (p.Ser409Thr)
|
|
|
|
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu)
|
rs1486781241
|
|
|
NM_022489.4(INF2):c.1227G>A (p.Ser409=)
|
rs3809455
|
|
|
NM_022489.4(INF2):c.1228_1229insCCAGAGTGAG (p.Gln410fs)
|
rs2140667760
|
|
|
NM_022489.4(INF2):c.1237G>A (p.Ala413Thr)
|
|
|
|
NM_022489.4(INF2):c.1239C>T (p.Ala413=)
|
|
|
|
NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)
|
|
|
|
NM_022489.4(INF2):c.1253C>T (p.Ala418Val)
|
|
|
|
NM_022489.4(INF2):c.1254G>C (p.Ala418=)
|
rs1370627984
|
|
|
NM_022489.4(INF2):c.1257C>T (p.Ser419=)
|
|
|
|
NM_022489.4(INF2):c.125T>C (p.Leu42Pro)
|
rs267606880
|
|
|
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)
|
rs573567814
|
|
|
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del)
|
rs573567814
|
|
|
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup)
|
rs573567814
|
|
|
NM_022489.4(INF2):c.1262CACCCC[6] (p.Pro428_Leu429insProProProPro)
|
|
|
|
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
|
|
|
|
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
|
rs1263040681
|
|
|
NM_022489.4(INF2):c.1270C>G (p.Pro424Ala)
|
|
|
|
NM_022489.4(INF2):c.1275A>C (p.Pro425=)
|
rs760828390
|
|
|
NM_022489.4(INF2):c.1275_1286del (p.Pro426_Leu429del)
|
|
|
|
NM_022489.4(INF2):c.1276C>A (p.Pro426Thr)
|
rs766635668
|
|
|
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu)
|
rs1889838927
|
|
|
NM_022489.4(INF2):c.1286del (p.Leu429fs)
|
|
|
|
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
|
rs1566781602
|
|
|
NM_022489.4(INF2):c.1298C>G (p.Ser433Cys)
|
rs2140668383
|
|
|
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp)
|
rs1566781633
|
|
|
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
|
rs746697423
|
|
|
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del)
|
rs980563049
|
|
|
NM_022489.4(INF2):c.1314TCCCCC[3] (p.Pro445_Leu446insProPro)
|
|
|
|
NM_022489.4(INF2):c.1325C>T (p.Pro442Leu)
|
|
|
|
NM_022489.4(INF2):c.1332C>G (p.Pro444=)
|
|
|
|
NM_022489.4(INF2):c.1335C>G (p.Pro445=)
|
rs1306481005
|
|
|
NM_022489.4(INF2):c.1335C>T (p.Pro445=)
|
rs1306481005
|
|
|
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
|
rs1278804782
|
|
|
NM_022489.4(INF2):c.1337T>C (p.Leu446Pro)
|
|
|
|
NM_022489.4(INF2):c.1341C>T (p.Pro447=)
|
|
|
|
NM_022489.4(INF2):c.1347G>A (p.Val449=)
|
|
|
|
NM_022489.4(INF2):c.1348G>A (p.Gly450Arg)
|
rs572969666
|
|
|
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)
|
rs572969666
|
|
|
NM_022489.4(INF2):c.134C>T (p.Pro45Leu)
|
|
|
|
NM_022489.4(INF2):c.1353T>C (p.Ala451=)
|
rs1889845267
|
|
|
NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)
|
|
|
|
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
|
|
|
|
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
|
rs1443005224
|
|
|
NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)
|
|
|
|
NM_022489.4(INF2):c.137C>G (p.Ser46Cys)
|
|
|
|
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
|
rs1889493279
|
|
|
NM_022489.4(INF2):c.1380C>G (p.Pro460=)
|
rs1889847537
|
|
|
NM_022489.4(INF2):c.1380C>T (p.Pro460=)
|
rs1889847537
|
|
|
NM_022489.4(INF2):c.1381C>T (p.Pro461Ser)
|
|
|
|
NM_022489.4(INF2):c.1382C>A (p.Pro461Gln)
|
|
|
|
NM_022489.4(INF2):c.1386C>T (p.Pro462=)
|
|
|
|
NM_022489.4(INF2):c.1389G>T (p.Leu463=)
|
rs1250341042
|
|
|
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
|
|
|
|
NM_022489.4(INF2):c.1396_1446dup (p.Leu466_Gly482dup)
|
rs1566781794
|
|
|
NM_022489.4(INF2):c.13G>A (p.Glu5Lys)
|
|
|
|
NM_022489.4(INF2):c.1406T>C (p.Met469Thr)
|
rs1889849217
|
|
|
NM_022489.4(INF2):c.1411C>G (p.Pro471Ala)
|
|
|
|
NM_022489.4(INF2):c.1415del (p.Pro472fs)
|
rs2140669082
|
|
|
NM_022489.4(INF2):c.1419A>T (p.Ala473=)
|
rs1595171333
|
|
|
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)
|
rs1325744353
|
|
|
NM_022489.4(INF2):c.1435C>A (p.Pro479Thr)
|
|
|
|
NM_022489.4(INF2):c.1440_1441delinsTT (p.Pro481Ser)
|
|
|
|
NM_022489.4(INF2):c.144C>T (p.Val48=)
|
rs528508846
|
|
|
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu)
|
rs1438965620
|
|
|
NM_022489.4(INF2):c.1473T>A (p.Pro491=)
|
rs1595171430
|
|
|
NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)
|
|
|
|
NM_022489.4(INF2):c.1476A>T (p.Pro492=)
|
rs1595171436
|
|
|
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)
|
rs1555373261
|
|
|
NM_022489.4(INF2):c.1493G>T (p.Gly498Val)
|
rs2140669360
|
|
|
NM_022489.4(INF2):c.14A>T (p.Glu5Val)
|
|
|
|
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)
|
rs1555373267
|
|
|
NM_022489.4(INF2):c.1511C>A (p.Pro504Gln)
|
|
|
|
NM_022489.4(INF2):c.1512A>G (p.Pro504=)
|
rs774032439
|
|
|
NM_022489.4(INF2):c.1515C>G (p.Pro505=)
|
|
|
|
NM_022489.4(INF2):c.1517T>G (p.Leu506Arg)
|
rs1160363735
|
|
|
NM_022489.4(INF2):c.1518G>C (p.Leu506=)
|
rs1393144870
|
|
|
NM_022489.4(INF2):c.1524T>G (p.Pro508=)
|
|
|
|
NM_022489.4(INF2):c.1526G>A (p.Gly509Asp)
|
|
|
|
NM_022489.4(INF2):c.1528A>G (p.Met510Val)
|
|
|
|
NM_022489.4(INF2):c.1540C>A (p.Pro514Thr)
|
|
|
|
NM_022489.4(INF2):c.1542T>G (p.Pro514=)
|
|
|
|
NM_022489.4(INF2):c.1554A>G (p.Pro518=)
|
rs1192390422
|
|
|
NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)
|
|
|
|
NM_022489.4(INF2):c.1557T>C (p.Pro519=)
|
|
|
|
NM_022489.4(INF2):c.1567C>T (p.Pro523Ser)
|
|
|
|
NM_022489.4(INF2):c.1569C>T (p.Pro523=)
|
|
|
|
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser)
|
rs2140669651
|
|
|
NM_022489.4(INF2):c.1575C>T (p.Thr525=)
|
rs1417311904
|
|
|
NM_022489.4(INF2):c.1576T>A (p.Cys526Ser)
|
|
|
|
NM_022489.4(INF2):c.1579A>C (p.Ser527Arg)
|
|
|
|
NM_022489.4(INF2):c.1581C>T (p.Ser527=)
|
rs928182488
|
|
|
NM_022489.4(INF2):c.1582C>A (p.Pro528Thr)
|
rs181694819
|
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819
|
|
|
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr)
|
rs1052608799
|
|
|
NM_022489.4(INF2):c.1587dup (p.Val530fs)
|
rs748929807
|
|
|
NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)
|
|
|
|
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
|
rs1889860666
|
|
|
NM_022489.4(INF2):c.1603G>C (p.Glu535Gln)
|
rs2140669798
|
|
|
NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)
|
|
|
|
NM_022489.4(INF2):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_022489.4(INF2):c.161G>C (p.Arg54Pro)
|
rs866348422
|
|
|
NM_022489.4(INF2):c.1624G>A (p.Val542Met)
|
rs1271026146
|
|
|
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
|
rs1467920811
|
|
|
NM_022489.4(INF2):c.1634G>T (p.Gly545Val)
|
|
|
|
NM_022489.4(INF2):c.1664G>A (p.Arg555Gln)
|
|
|
|
NM_022489.4(INF2):c.1674C>A (p.Asn558Lys)
|
|
|
|
NM_022489.4(INF2):c.167G>A (p.Arg56His)
|
rs1595163730
|
|
|
NM_022489.4(INF2):c.1683A>G (p.Thr561=)
|
rs1595171811
|
|
|
NM_022489.4(INF2):c.1687C>T (p.Arg563Cys)
|
|
|
|
NM_022489.4(INF2):c.168C>A (p.Arg56=)
|
rs2140638425
|
|
|
NM_022489.4(INF2):c.1698G>A (p.Lys566=)
|
|
|
|
NM_022489.4(INF2):c.1699C>T (p.Leu567=)
|
rs2140670155
|
|
|
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
|
rs1595163736
|
|
|
NM_022489.4(INF2):c.1710G>C (p.Gln570His)
|
rs2140670180
|
|
|
NM_022489.4(INF2):c.1716G>C (p.Leu572=)
|
rs780141010
|
|
|
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
|
|
|
|
NM_022489.4(INF2):c.1735+16C>T
|
|
|
|
NM_022489.4(INF2):c.1735+18C>A
|
|
|
|
NM_022489.4(INF2):c.1735+1G>A
|
rs2140670271
|
|
|
NM_022489.4(INF2):c.1735+5G>A
|
|
|
|
NM_022489.4(INF2):c.1736-18C>G
|
rs199612826
|
|
|
NM_022489.4(INF2):c.1736-5G>A
|
|
|
|
NM_022489.4(INF2):c.1736-9_1736-7dup
|
rs2140671935
|
|
|
NM_022489.4(INF2):c.1736A>G (p.Glu579Gly)
|
rs2140671973
|
|
|
NM_022489.4(INF2):c.1746T>C (p.Ser582=)
|
|
|
|
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)
|
rs369421697
|
|
|
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr)
|
rs530285485
|
|
|
NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)
|
|
|
|
NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs)
|
|
|
|
NM_022489.4(INF2):c.17G>T (p.Gly6Val)
|
|
|
|
NM_022489.4(INF2):c.1812A>T (p.Arg604=)
|
|
|
|
NM_022489.4(INF2):c.181G>C (p.Asp61His)
|
rs1410857502
|
|
|
NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)
|
|
|
|
NM_022489.4(INF2):c.1833C>T (p.Ala611=)
|
rs2140672219
|
|
|
NM_022489.4(INF2):c.1849A>G (p.Thr617Ala)
|
rs2140672247
|
|
|
NM_022489.4(INF2):c.1852A>T (p.Met618Leu)
|
|
|
|
NM_022489.4(INF2):c.1859C>T (p.Ala620Val)
|
|
|
|
NM_022489.4(INF2):c.1860C>T (p.Ala620=)
|
|
|
|
NM_022489.4(INF2):c.1864C>T (p.Arg622Trp)
|
|
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
|
NM_022489.4(INF2):c.186C>T (p.Gly62=)
|
rs1555373276
|
|
|
NM_022489.4(INF2):c.1870A>T (p.Arg624Trp)
|
|
|
|
NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)
|
|
|
|
NM_022489.4(INF2):c.1888-10G>T
|
|
|
|
NM_022489.4(INF2):c.1888-16G>A
|
|
|
|
NM_022489.4(INF2):c.1888-16G>T
|
|
|
|
NM_022489.4(INF2):c.1888-8T>G
|
rs889481678
|
|
|
NM_022489.4(INF2):c.1888-9G>A
|
|
|
|
NM_022489.4(INF2):c.188G>A (p.Gly63Asp)
|
rs990960028
|
|
|
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
|
rs1889495846
|
|
|
NM_022489.4(INF2):c.1892C>T (p.Thr631Ile)
|
rs1595172697
|
|
|
NM_022489.4(INF2):c.1894T>C (p.Phe632Leu)
|
|
|
|
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
|
|
|
|
NM_022489.4(INF2):c.1902T>A (p.Asp634Glu)
|
|
|
|
NM_022489.4(INF2):c.1905C>A (p.Ala635=)
|
|
|
|
NM_022489.4(INF2):c.1906A>C (p.Lys636Gln)
|
rs1889898227
|
|
|
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
|
rs761939643
|
|
|
NM_022489.4(INF2):c.1911G>A (p.Lys637=)
|
rs1595172720
|
|
|
NM_022489.4(INF2):c.1912A>T (p.Ser638Cys)
|
|
|
|
NM_022489.4(INF2):c.1913G>A (p.Ser638Asn)
|
|
|
|
NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)
|
|
|
|
NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)
|
|
|
|
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu)
|
rs966287674
|
|
|
NM_022489.4(INF2):c.1935G>A (p.Leu645=)
|
|
|
|
NM_022489.4(INF2):c.1942T>G (p.Phe648Val)
|
|
|
|
NM_022489.4(INF2):c.1943T>A (p.Phe648Tyr)
|
|
|
|
NM_022489.4(INF2):c.1949+10G>A
|
rs1342614480
|
|
|
NM_022489.4(INF2):c.1949+1G>A
|
|
|
|
NM_022489.4(INF2):c.1949+7G>A
|
rs757853615
|
|
|
NM_022489.4(INF2):c.1950-10C>A
|
rs199987321
|
|
|
NM_022489.4(INF2):c.1950-11C>T
|
|
|
|
NM_022489.4(INF2):c.1950-13C>T
|
|
|
|
NM_022489.4(INF2):c.1950-15C>T
|
|
|
|
NM_022489.4(INF2):c.1950-19G>A
|
|
|
|
NM_022489.4(INF2):c.1950-20C>G
|
|
|
|
NM_022489.4(INF2):c.1950-20C>T
|
rs370726873
|
|
|
NM_022489.4(INF2):c.1950-4C>G
|
rs539363877
|
|
|
NM_022489.4(INF2):c.1950-4C>T
|
rs539363877
|
|
|
NM_022489.4(INF2):c.1953C>T (p.Ser651=)
|
|
|
|
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly)
|
rs2140675983
|
|
|
NM_022489.4(INF2):c.1967C>G (p.Ala656Gly)
|
|
|
|
NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)
|
|
|
|
NM_022489.4(INF2):c.2009A>G (p.Glu670Gly)
|
rs886050381
|
|
|
NM_022489.4(INF2):c.200A>G (p.Gln67Arg)
|
|
|
|
NM_022489.4(INF2):c.2010G>A (p.Glu670=)
|
rs1271047216
|
|
|
NM_022489.4(INF2):c.2022A>T (p.Gln674His)
|
rs886050382
|
|
|
NM_022489.4(INF2):c.2023C>G (p.Leu675Val)
|
|
|
|
NM_022489.4(INF2):c.2023C>T (p.Leu675Phe)
|
|
|
|
NM_022489.4(INF2):c.2050G>A (p.Glu684Lys)
|
|
|
|
NM_022489.4(INF2):c.2052+12A>G
|
rs1342540362
|
|
|
NM_022489.4(INF2):c.2052+16C>T
|
|
|
|
NM_022489.4(INF2):c.2052+17del
|
|
|
|
NM_022489.4(INF2):c.2052+19C>T
|
|
|
|
NM_022489.4(INF2):c.2052+3A>G
|
rs1382855956
|
|
|
NM_022489.4(INF2):c.2053-17C>T
|
|
|
|
NM_022489.4(INF2):c.2053-19G>A
|
rs2140677593
|
|
|
NM_022489.4(INF2):c.2053-4G>T
|
|
|
|
NM_022489.4(INF2):c.205C>T (p.Leu69=)
|
|
|
|
NM_022489.4(INF2):c.2065C>A (p.Arg689=)
|
rs781255309
|
|
|
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
|
|
|
|
NM_022489.4(INF2):c.2066G>A (p.Arg689Gln)
|
|
|
|
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly)
|
rs769120676
|
|
|
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
|
|
|
|
NM_022489.4(INF2):c.2093T>C (p.Leu698Pro)
|
rs1889952154
|
|
|
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
rs377281840
|
|
|
NM_022489.4(INF2):c.2100C>T (p.Ser700=)
|
rs377281840
|
|
|
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
|
|
|
|
NM_022489.4(INF2):c.210_224del (p.Glu70_Leu74del)
|
|
|
|
NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup)
|
rs1889497296
|
|
|
NM_022489.4(INF2):c.2118C>T (p.Leu706=)
|
rs1595173916
|
|
|
NM_022489.4(INF2):c.2122C>A (p.Leu708Met)
|
|
|
|
NM_022489.4(INF2):c.2128G>A (p.Ala710Thr)
|
rs373806518
|
|
|
NM_022489.4(INF2):c.2138+10dup
|
rs1301032347
|
|
|
NM_022489.4(INF2):c.2138+4A>G
|
|
|
|
NM_022489.4(INF2):c.2139-12T>G
|
rs2140679527
|
|
|
NM_022489.4(INF2):c.2139-4C>T
|
rs1595174339
|
|
|
NM_022489.4(INF2):c.2145G>A (p.Gln715=)
|
rs1228218526
|
|
|
NM_022489.4(INF2):c.2146C>T (p.Leu716=)
|
rs1889974020
|
|
|
NM_022489.4(INF2):c.2174A>C (p.Glu725Ala)
|
rs1889975115
|
|
|
NM_022489.4(INF2):c.217G>A (p.Gly73Ser)
|
rs1566777560
|
|
|
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
|
|
|
|
NM_022489.4(INF2):c.218G>T (p.Gly73Val)
|
rs918089359
|
|
|
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
|
|
|
|
NM_022489.4(INF2):c.219C>T (p.Gly73=)
|
rs2140638628
|
|
|
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
|
|
|
|
NM_022489.4(INF2):c.2206C>T (p.Pro736Ser)
|
|
|
|
NM_022489.4(INF2):c.220C>G (p.Leu74Val)
|
|
|
|
NM_022489.4(INF2):c.221T>G (p.Leu74Arg)
|
rs1566777566
|
|
|
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
|
rs1595174468
|
|
|
NM_022489.4(INF2):c.2226G>A (p.Leu742=)
|
|
|
|
NM_022489.4(INF2):c.2238A>C (p.Glu746Asp)
|
|
|
|
NM_022489.4(INF2):c.2239+20G>T
|
|
|
|
NM_022489.4(INF2):c.2240-11T>C
|
rs2140682757
|
|
|
NM_022489.4(INF2):c.2240-16C>T
|
|
|
|
NM_022489.4(INF2):c.2240-19G>A
|
|
|
|
NM_022489.4(INF2):c.2240-7C>T
|
rs374969245
|
|
|
NM_022489.4(INF2):c.2240-8C>T
|
rs1216523445
|
|
|
NM_022489.4(INF2):c.2247C>T (p.Leu749=)
|
rs2140682785
|
|
|
NM_022489.4(INF2):c.2253C>T (p.Ser751=)
|
rs2140682802
|
|
|
NM_022489.4(INF2):c.2264C>G (p.Pro755Arg)
|
|
|
|
NM_022489.4(INF2):c.2268C>T (p.Ile756=)
|
|
|
|
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
rs1889499325
|
|
|
NM_022489.4(INF2):c.2277G>A (p.Gln759=)
|
rs1198982780
|
|
|
NM_022489.4(INF2):c.2288G>A (p.Arg763Lys)
|
|
|
|
NM_022489.4(INF2):c.228G>C (p.Leu76=)
|
|
|
|
NM_022489.4(INF2):c.2295G>A (p.Gly765=)
|
rs2140682892
|
|
|
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
|
rs1595163851
|
|
|
NM_022489.4(INF2):c.2310+12del
|
rs752651194
|
|
|
NM_022489.4(INF2):c.2310+7del
|
rs759540621
|
|
|
NM_022489.4(INF2):c.2311-13C>G
|
|
|
|
NM_022489.4(INF2):c.2311-3del
|
|
|
|
NM_022489.4(INF2):c.2311-9C>A
|
rs1890025610
|
|
|
NM_022489.4(INF2):c.2325T>C (p.Gly775=)
|
rs1595175625
|
|
|
NM_022489.4(INF2):c.2331C>T (p.Ala777=)
|
|
|
|
NM_022489.4(INF2):c.2332G>A (p.Asp778Asn)
|
|
|
|
NM_022489.4(INF2):c.2334C>T (p.Asp778=)
|
|
|
|
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
|
rs1889500121
|
|
|
NM_022489.4(INF2):c.2349C>T (p.Ser783=)
|
|
|
|
NM_022489.4(INF2):c.2355G>A (p.Leu785=)
|
|
|
|
NM_022489.4(INF2):c.2391C>T (p.Arg797=)
|
|
|
|
NM_022489.4(INF2):c.2392G>A (p.Val798Met)
|
rs752048486
|
|
|
NM_022489.4(INF2):c.2397G>A (p.Thr799=)
|
|
|
|
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
|
rs1890029024
|
|
|
NM_022489.4(INF2):c.2418+16G>C
|
|
|
|
NM_022489.4(INF2):c.2418+16G>T
|
rs773186603
|
|
|
NM_022489.4(INF2):c.2418+17G>A
|
|
|
|
NM_022489.4(INF2):c.2418+19G>C
|
rs770701500
|
|
|
NM_022489.4(INF2):c.2418+20G>T
|
rs1470076316
|
|
|
NM_022489.4(INF2):c.2418+7C>T
|
|
|
|
NM_022489.4(INF2):c.2418+9T>C
|
|
|
|
NM_022489.4(INF2):c.2419-12G>A
|
|
|
|
NM_022489.4(INF2):c.2419-12G>T
|
rs369283834
|
|
|
NM_022489.4(INF2):c.2419-19T>A
|
rs1890051019
|
|
|
NM_022489.4(INF2):c.2419-5T>C
|
|
|
|
NM_022489.4(INF2):c.2436C>G (p.His812Gln)
|
|
|
|
NM_022489.4(INF2):c.2439C>T (p.Pro813=)
|
rs543495305
|
|
|
NM_022489.4(INF2):c.2469A>G (p.Glu823=)
|
rs2140685910
|
|
|
NM_022489.4(INF2):c.246G>A (p.Ala82=)
|
rs377173164
|
|
|
NM_022489.4(INF2):c.2489+16C>T
|
|
|
|
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315
|
|
|
NM_022489.4(INF2):c.2490-13C>G
|
|
|
|
NM_022489.4(INF2):c.2490-17C>T
|
|
|
|
NM_022489.4(INF2):c.2490-18G>A
|
|
|
|
NM_022489.4(INF2):c.2490-8C>T
|
rs977001355
|
|
|
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr)
|
rs767351070
|
|
|
NM_022489.4(INF2):c.2511C>T (p.Arg837=)
|
rs1595177417
|
|
|
NM_022489.4(INF2):c.2517G>A (p.Glu839=)
|
rs561061092
|
|
|
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
|
rs1889501966
|
|
|
NM_022489.4(INF2):c.2523C>A (p.Ser841Arg)
|
|
|
|
NM_022489.4(INF2):c.2523C>T (p.Ser841=)
|
rs1890100793
|
|
|
NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)
|
|
|
|
NM_022489.4(INF2):c.2530C>T (p.Leu844=)
|
|
|
|
NM_022489.4(INF2):c.2533A>C (p.Lys845Gln)
|
|
|
|
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
|
rs1890101375
|
|
|
NM_022489.4(INF2):c.2541T>G (p.Leu847=)
|
|
|
|
NM_022489.4(INF2):c.254C>G (p.Ser85Trp)
|
rs1317776692
|
|
|
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
|
|
|
|
NM_022489.4(INF2):c.255G>A (p.Ser85=)
|
rs369037445
|
|
|
NM_022489.4(INF2):c.255G>C (p.Ser85=)
|
rs369037445
|
|
|
NM_022489.4(INF2):c.2571C>G (p.Ser857=)
|
rs62640005
|
|
|
NM_022489.4(INF2):c.2574G>A (p.Val858=)
|
rs371768502
|
|
|
NM_022489.4(INF2):c.257G>T (p.Gly86Val)
|
rs1566777637
|
|
|
NM_022489.4(INF2):c.2589G>A (p.Glu863=)
|
rs1595177530
|
|
|
NM_022489.4(INF2):c.258C>T (p.Gly86=)
|
|
|
|
NM_022489.4(INF2):c.2598C>G (p.Thr866=)
|
rs552110857
|
|
|
NM_022489.4(INF2):c.2599G>C (p.Glu867Gln)
|
rs777850657
|
|
|
NM_022489.4(INF2):c.2610+15G>A
|
rs746323324
|
|
|
NM_022489.4(INF2):c.2611-16G>A
|
|
|
|
NM_022489.4(INF2):c.2611-3_2766delinsA
|
rs1890116449
|
|
|
NM_022489.4(INF2):c.2613C>G (p.Ala871=)
|
rs2140692107
|
|
|
NM_022489.4(INF2):c.261_262dup (p.Gly88fs)
|
|
|
|
NM_022489.4(INF2):c.2621C>T (p.Ser874Leu)
|
|
|
|
NM_022489.4(INF2):c.2625C>G (p.Ala875=)
|
rs377398103
|
|
|
NM_022489.4(INF2):c.2625C>T (p.Ala875=)
|
|
|
|
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
|
rs766891612
|
|
|
NM_022489.4(INF2):c.262G>T (p.Gly88Cys)
|
rs766891612
|
|
|
NM_022489.4(INF2):c.2646G>A (p.Leu882=)
|
rs1890118187
|
|
|
NM_022489.4(INF2):c.264C>G (p.Gly88=)
|
|
|
|
NM_022489.4(INF2):c.265G>A (p.Val89Ile)
|
rs765566674
|
|
|
NM_022489.4(INF2):c.2664G>T (p.Gln888His)
|
|
|
|
NM_022489.4(INF2):c.2673G>C (p.Arg891=)
|
rs938468023
|
|
|
NM_022489.4(INF2):c.2682C>A (p.Ala894=)
|
|
|
|
NM_022489.4(INF2):c.2684A>G (p.Asp895Gly)
|
rs1890119751
|
|
|
NM_022489.4(INF2):c.2691G>C (p.Leu897=)
|
|
|
|
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
|
rs1890119995
|
|
|
NM_022489.4(INF2):c.26G>C (p.Arg9Pro)
|
|
|
|
NM_022489.4(INF2):c.26G>T (p.Arg9Leu)
|
|
|
|
NM_022489.4(INF2):c.2709G>C (p.Gln903His)
|
rs762803590
|
|
|
NM_022489.4(INF2):c.270A>T (p.Ala90=)
|
|
|
|
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
|
|
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
|
NM_022489.4(INF2):c.271C>T (p.Arg91Cys)
|
rs200247054
|
|
|
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys)
|
rs201336550
|
|
|
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
|
rs201336550
|
|
|
NM_022489.4(INF2):c.272G>T (p.Arg91Leu)
|
|
|
|
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp)
|
rs778308700
|
|
|
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
|
|
|
|
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs)
|
rs1566785235
|
|
|
NM_022489.4(INF2):c.2768C>T (p.Ala923Val)
|
|
|
|
NM_022489.4(INF2):c.2775+11C>G
|
|
|
|
NM_022489.4(INF2):c.2775+6G>A
|
rs2140693103
|
|
|
NM_022489.4(INF2):c.2776-15C>T
|
|
|
|
NM_022489.4(INF2):c.2776-20G>A
|
rs763178910
|
|
|
NM_022489.4(INF2):c.2776-6G>A
|
|
|
|
NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)
|
|
|
|
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)
|
rs764687744
|
|
|
NM_022489.4(INF2):c.2788C>T (p.Arg930Trp)
|
|
|
|
NM_022489.4(INF2):c.2789G>T (p.Arg930Leu)
|
|
|
|
NM_022489.4(INF2):c.2805G>A (p.Ala935=)
|
|
|
|
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys)
|
rs1595178511
|
|
|
NM_022489.4(INF2):c.281A>G (p.Asp94Gly)
|
rs1889506126
|
|
|
NM_022489.4(INF2):c.283G>A (p.Ala95Thr)
|
|
|
|
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr)
|
rs2140695225
|
|
|
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
|
rs912951002
|
|
|
NM_022489.4(INF2):c.2846C>T (p.Ala949Val)
|
rs912951002
|
|
|
NM_022489.4(INF2):c.2851C>T (p.Arg951Trp)
|
|
|
|
NM_022489.4(INF2):c.2855C>T (p.Pro952Leu)
|
|
|
|
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln)
|
rs1385146569
|
|
|
NM_022489.4(INF2):c.2858G>C (p.Arg953Pro)
|
|
|
|
NM_022489.4(INF2):c.285C>T (p.Ala95=)
|
|
|
|
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu)
|
rs748088770
|
|
|
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)
|
rs369417066
|
|
|
NM_022489.4(INF2):c.2877T>C (p.Pro959=)
|
rs1890143462
|
|
|
NM_022489.4(INF2):c.2878+13C>T
|
|
|
|
NM_022489.4(INF2):c.2878+14G>A
|
|
|
|
NM_022489.4(INF2):c.2878+19_2878+48dup
|
|
|
|
NM_022489.4(INF2):c.2879-8C>T
|
|
|
|
NM_022489.4(INF2):c.2888G>A (p.Gly963Glu)
|
|
|
|
NM_022489.4(INF2):c.2893G>T (p.Gly965Trp)
|
rs370783381
|
|
|
NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)
|
|
|
|
NM_022489.4(INF2):c.2901G>A (p.Gln967=)
|
|
|
|
NM_022489.4(INF2):c.2904G>A (p.Glu968=)
|
rs766775939
|
|
|
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
|
rs1890151516
|
|
|
NM_022489.4(INF2):c.2906A>T (p.Glu969Val)
|
|
|
|
NM_022489.4(INF2):c.290T>G (p.Leu97Arg)
|
|
|
|
NM_022489.4(INF2):c.2910G>A (p.Val970=)
|
|
|
|
NM_022489.4(INF2):c.2919C>T (p.Ile973=)
|
|
|
|
NM_022489.4(INF2):c.291G>T (p.Leu97=)
|
rs1334953478
|
|
|
NM_022489.4(INF2):c.2922T>C (p.Asp974=)
|
|
|
|
NM_022489.4(INF2):c.2938A>G (p.Ile980Val)
|
|
|
|
NM_022489.4(INF2):c.2942G>C (p.Arg981Thr)
|
|
|
|
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
|
|
|
|
NM_022489.4(INF2):c.2959C>T (p.Arg987Trp)
|
rs777407891
|
|
|
NM_022489.4(INF2):c.2973G>A (p.Arg991=)
|
rs1890153381
|
|
|
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly)
|
rs935688609
|
|
|
NM_022489.4(INF2):c.2977C>T (p.Arg993Cys)
|
|
|
|
NM_022489.4(INF2):c.2978G>A (p.Arg993His)
|
|
|
|
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
|
|
|
|
NM_022489.4(INF2):c.2982G>A (p.Gly994=)
|
rs2140696493
|
|
|
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly)
|
rs748234626
|
|
|
NM_022489.4(INF2):c.2994_2996del (p.Gly999del)
|
|
|
|
NM_022489.4(INF2):c.2996dup (p.Ser1000fs)
|
rs1566785725
|
|
|
NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu)
|
|
|
|
NM_022489.4(INF2):c.300C>T (p.Thr100=)
|
rs755925568
|
|
|
NM_022489.4(INF2):c.3036G>A (p.Glu1012=)
|
|
|
|
NM_022489.4(INF2):c.303C>T (p.Cys101=)
|
|
|
|
NM_022489.4(INF2):c.3040+18_3040+23dup
|
|
|
|
NM_022489.4(INF2):c.3040+19G>A
|
|
|
|
NM_022489.4(INF2):c.3040+19G>T
|
|
|
|
NM_022489.4(INF2):c.3040+7C>A
|
rs370947072
|
|
|
NM_022489.4(INF2):c.3040+7C>T
|
|
|
|
NM_022489.4(INF2):c.3041-15T>C
|
|
|
|
NM_022489.4(INF2):c.3041-7C>T
|
rs1283161160
|
|
|
NM_022489.4(INF2):c.304G>C (p.Val102Leu)
|
|
|
|
NM_022489.4(INF2):c.3059C>A (p.Ala1020Glu)
|
rs368372551
|
|
|
NM_022489.4(INF2):c.306C>G (p.Val102=)
|
rs748335660
|
|
|
NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)
|
|
|
|
NM_022489.4(INF2):c.3081G>A (p.Thr1027=)
|
|
|
|
NM_022489.4(INF2):c.308G>C (p.Ser103Thr)
|
|
|
|
NM_022489.4(INF2):c.3091G>A (p.Ala1031Thr)
|
|
|
|
NM_022489.4(INF2):c.3091G>C (p.Ala1031Pro)
|
rs1050761365
|
|
|
NM_022489.4(INF2):c.3093C>T (p.Ala1031=)
|
|
|
|
NM_022489.4(INF2):c.3103G>C (p.Gly1035Arg)
|
rs368995122
|
|
|
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034
|
|
|
NM_022489.4(INF2):c.3119C>A (p.Thr1040Lys)
|
|
|
|
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly)
|
rs770095888
|
|
|
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)
|
rs387907036
|
|
|
NM_022489.4(INF2):c.3138C>T (p.Gly1046=)
|
|
|
|
NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile)
|
|
|
|
NM_022489.4(INF2):c.314T>A (p.Val105Glu)
|
rs1555373363
|
|
|
NM_022489.4(INF2):c.3153C>A (p.Asp1051Glu)
|
rs117457867
|
|
|
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
|
|
|
|
NM_022489.4(INF2):c.3156C>T (p.Ala1052=)
|
|
|
|
NM_022489.4(INF2):c.3159G>C (p.Val1053=)
|
|
|
|
NM_022489.4(INF2):c.315_323del (p.Arg106_Val108del)
|
|
|
|
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
|
|
|
|
NM_022489.4(INF2):c.3174G>C (p.Gln1058His)
|
|
|
|
NM_022489.4(INF2):c.3179C>T (p.Thr1060Ile)
|
|
|
|
NM_022489.4(INF2):c.318C>T (p.Arg106=)
|
|
|
|
NM_022489.4(INF2):c.3195G>A (p.Glu1065=)
|
rs1890194293
|
|
|
NM_022489.4(INF2):c.3198G>A (p.Glu1066=)
|
|
|
|
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
|
rs1209329545
|
|
|
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
|
|
|
|
NM_022489.4(INF2):c.3207A>C (p.Pro1069=)
|
rs1128840
|
|
|
NM_022489.4(INF2):c.3207A>G (p.Pro1069=)
|
rs1128840
|
|
|
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
|
rs1890195225
|
|
|
NM_022489.4(INF2):c.320_322del (p.Ala107del)
|
rs1889509458
|
|
|
NM_022489.4(INF2):c.3214C>T (p.Leu1072=)
|
|
|
|
NM_022489.4(INF2):c.3219G>A (p.Glu1073=)
|
rs2140700368
|
|
|
NM_022489.4(INF2):c.3228T>C (p.Ser1076=)
|
|
|
|
NM_022489.4(INF2):c.322G>T (p.Val108Phe)
|
|
|
|
NM_022489.4(INF2):c.322del (p.Val108fs)
|
rs2140639383
|
|
|
NM_022489.4(INF2):c.3236A>G (p.Tyr1079Cys)
|
|
|
|
NM_022489.4(INF2):c.3241G>C (p.Asp1081His)
|
rs571986941
|
|
|
NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)
|
|
|
|
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
|
|
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
|
NM_022489.4(INF2):c.325A>T (p.Met109Leu)
|
rs1889510098
|
|
|
NM_022489.4(INF2):c.3261C>A (p.Thr1087=)
|
|
|
|
NM_022489.4(INF2):c.3269A>C (p.Asp1090Ala)
|
|
|
|
NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser)
|
|
|
|
NM_022489.4(INF2):c.3300C>G (p.Ala1100=)
|
rs755319597
|
|
|
NM_022489.4(INF2):c.3306G>A (p.Pro1102=)
|
|
|
|
NM_022489.4(INF2):c.3324T>A (p.Ala1108=)
|
|
|
|
NM_022489.4(INF2):c.3325C>T (p.Gln1109Ter)
|
|
|
|
NM_022489.4(INF2):c.3329C>A (p.Ala1110Asp)
|
rs2140700719
|
|
|
NM_022489.4(INF2):c.332C>T (p.Ser111Leu)
|
|
|
|
NM_022489.4(INF2):c.333G>A (p.Ser111=)
|
|
|
|
NM_022489.4(INF2):c.3340C>G (p.Leu1114Val)
|
|
|
|
NM_022489.4(INF2):c.3342C>G (p.Leu1114=)
|
rs777623201
|
|
|
NM_022489.4(INF2):c.3354C>T (p.Ser1118=)
|
|
|
|
NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)
|
|
|
|
NM_022489.4(INF2):c.3361C>G (p.Pro1121Ala)
|
rs1248997686
|
|
|
NM_022489.4(INF2):c.3361C>T (p.Pro1121Ser)
|
rs1248997686
|
|
|
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
|
rs1422015907
|
|
|
NM_022489.4(INF2):c.3374G>C (p.Gly1125Ala)
|
|
|
|
NM_022489.4(INF2):c.3384G>C (p.Arg1128Ser)
|
|
|
|
NM_022489.4(INF2):c.338A>G (p.Gln113Arg)
|
rs1889511010
|
|
|
NM_022489.4(INF2):c.338A>T (p.Gln113Leu)
|
|
|
|
NM_022489.4(INF2):c.3402C>G (p.Pro1134=)
|
|
|
|
NM_022489.4(INF2):c.3414G>T (p.Leu1138=)
|
|
|
|
NM_022489.4(INF2):c.3417C>T (p.Gly1139=)
|
rs753095805
|
|
|
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
|
rs1595164091
|
|
|
NM_022489.4(INF2):c.3423C>G (p.Leu1141=)
|
rs1445826828
|
|
|
NM_022489.4(INF2):c.3429C>T (p.Ala1143=)
|
|
|
|
NM_022489.4(INF2):c.3439A>C (p.Ser1147Arg)
|
|
|
|
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
|
rs1890205376
|
|
|
NM_022489.4(INF2):c.3446G>C (p.Ser1149Thr)
|
rs1890205619
|
|
|
NM_022489.4(INF2):c.344T>G (p.Ile115Ser)
|
rs2140639483
|
|
|
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
|
rs1166494154
|
|
|
NM_022489.4(INF2):c.346G>A (p.Glu116Lys)
|
|
|
|
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
|
rs1890207111
|
|
|
NM_022489.4(INF2):c.3474C>T (p.Ser1158=)
|
rs1555375620
|
|
|
NM_022489.4(INF2):c.3488C>A (p.Pro1163His)
|
|
|
|
NM_022489.4(INF2):c.3489C>T (p.Pro1163=)
|
|
|
|
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
|
rs201814557
|
|
|
NM_022489.4(INF2):c.3501C>T (p.Gly1167=)
|
|
|
|
NM_022489.4(INF2):c.3511G>T (p.Asp1171Tyr)
|
|
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
|
NM_022489.4(INF2):c.3536C>T (p.Thr1179Met)
|
|
|
|
NM_022489.4(INF2):c.3538G>T (p.Ala1180Ser)
|
rs1890210294
|
|
|
NM_022489.4(INF2):c.353T>A (p.Ile118Asn)
|
rs2140639518
|
|
|
NM_022489.4(INF2):c.3540C>A (p.Ala1180=)
|
rs1890210440
|
|
|
NM_022489.4(INF2):c.3546G>A (p.Glu1182=)
|
rs1890210806
|
|
|
NM_022489.4(INF2):c.3549C>T (p.Ser1183=)
|
rs1890210863
|
|
|
NM_022489.4(INF2):c.3553C>T (p.Leu1185=)
|
|
|
|
NM_022489.4(INF2):c.3555G>A (p.Leu1185=)
|
|
|
|
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
|
rs201715539
|
|
|
NM_022489.4(INF2):c.3568G>A (p.Asp1190Asn)
|
|
|
|
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu)
|
rs1555375657
|
|
|
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln)
|
rs1064796974
|
|
|
NM_022489.4(INF2):c.3585G>A (p.Glu1195=)
|
rs569502255
|
|
|
NM_022489.4(INF2):c.3591G>C (p.Ala1197=)
|
|
|
|
NM_022489.4(INF2):c.3591G>T (p.Ala1197=)
|
rs765090867
|
|
|
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
rs764338863
|
|
|
NM_022489.4(INF2):c.3598G>C (p.Asp1200His)
|
rs764338863
|
|
|
NM_022489.4(INF2):c.3603C>T (p.Ser1201=)
|
rs2140701770
|
|
|
NM_022489.4(INF2):c.3604T>C (p.Ser1202Pro)
|
rs1890213193
|
|
|
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp)
|
rs956685612
|
|
|
NM_022489.4(INF2):c.3618A>G (p.Thr1206=)
|
|
|
|
NM_022489.4(INF2):c.3618A>T (p.Thr1206=)
|
rs748717940
|
|
|
NM_022489.4(INF2):c.3623C>T (p.Pro1208Leu)
|
|
|
|
NM_022489.4(INF2):c.3632G>A (p.Arg1211Gln)
|
rs754263906
|
|
|
NM_022489.4(INF2):c.3632G>T (p.Arg1211Leu)
|
rs754263906
|
|
|
NM_022489.4(INF2):c.3633G>A (p.Arg1211=)
|
rs1293384292
|
|
|
NM_022489.4(INF2):c.3636C>T (p.Gly1212=)
|
|
|
|
NM_022489.4(INF2):c.363C>T (p.Asn121=)
|
rs1174416960
|
|
|
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
|
rs762985148
|
|
|
NM_022489.4(INF2):c.3648G>A (p.Lys1216=)
|
rs139196357
|
|
|
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn)
|
rs139196357
|
|
|
NM_022489.4(INF2):c.364C>G (p.Gln122Glu)
|
rs1428719320
|
|
|
NM_022489.4(INF2):c.3654C>G (p.Thr1218=)
|
rs557462297
|
|
|
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
|
|
|
|
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
|
rs754128326
|
|
|
NM_022489.4(INF2):c.3665G>A (p.Arg1222Lys)
|
|
|
|
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
|
|
|
|
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)
|
rs779017318
|
|
|
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
|
|
|
|
NM_022489.4(INF2):c.3694+12_3694+15del
|
rs766461452
|
|
|
NM_022489.4(INF2):c.3694+18C>T
|
rs1311828298
|
|
|
NM_022489.4(INF2):c.3694+5C>T
|
rs1890217788
|
|
|
NM_022489.4(INF2):c.3694+8A>C
|
rs1595180626
|
|
|
NM_022489.4(INF2):c.3694+8_3694+9del
|
|
|
|
NM_022489.4(INF2):c.3695-10T>C
|
|
|
|
NM_022489.4(INF2):c.3695-18T>G
|
|
|
|
NM_022489.4(INF2):c.3695-4G>C
|
rs757575999
|
|
|
NM_022489.4(INF2):c.3698T>A (p.Val1233Asp)
|
|
|
|
NM_022489.4(INF2):c.3698T>G (p.Val1233Gly)
|
|
|
|
NM_022489.4(INF2):c.369del (p.Tyr124fs)
|
|
|
|
NM_022489.4(INF2):c.3700C>T (p.Pro1234Ser)
|
rs2140703863
|
|
|
NM_022489.4(INF2):c.3709T>A (p.Ser1237Thr)
|
|
|
|
NM_022489.4(INF2):c.3709del (p.Ser1237fs)
|
|
|
|
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del)
|
rs1236644699
|
|
|
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu)
|
rs775075672
|
|
|
NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)
|
|
|
|
NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)
|
|
|
|
NM_022489.4(INF2):c.3717T>C (p.Asp1239=)
|
rs748770666
|
|
|
NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)
|
|
|
|
NM_022489.4(INF2):c.3725_3728del (p.Thr1242fs)
|
rs1349764218
|
|
|
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs)
|
rs1566787039
|
|
|
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
|
rs1323987101
|
|
|
NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg)
|
|
|
|
NM_022489.4(INF2):c.373G>A (p.Val125Met)
|
rs762621935
|
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
|
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
|
rs1890248105
|
|
|
NM_022489.4(INF2):c.3750A>C (p.Ter1250Tyr)
|
|
|
|
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037
|
|
|
NM_022489.4(INF2):c.384C>T (p.Leu128=)
|
rs536296013
|
|
|
NM_022489.4(INF2):c.391+6C>A
|
|
|
|
NM_022489.4(INF2):c.391+6C>T
|
rs75115369
|
|
|
NM_022489.4(INF2):c.391+7C>G
|
|
|
|
NM_022489.4(INF2):c.391+7C>T
|
|
|
|
NM_022489.4(INF2):c.391+8G>A
|
|
|
|
NM_022489.4(INF2):c.391+8G>T
|
|
|
|
NM_022489.4(INF2):c.392-13_392-9dup
|
rs775575983
|
|
|
NM_022489.4(INF2):c.392-17C>A
|
|
|
|
NM_022489.4(INF2):c.392-17C>G
|
|
|
|
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
|
rs387907038
|
|
|
NM_022489.4(INF2):c.397G>A (p.Asp133Asn)
|
rs774135330
|
|
|
NM_022489.4(INF2):c.427G>A (p.Val143Met)
|
rs1237835000
|
|
|
NM_022489.4(INF2):c.439C>T (p.Leu147=)
|
|
|
|
NM_022489.4(INF2):c.440T>C (p.Leu147Pro)
|
rs1555373588
|
|
|
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
|
|
|
|
NM_022489.4(INF2):c.456C>G (p.Ile152Met)
|
|
|
|
NM_022489.4(INF2):c.459C>G (p.Tyr153Ter)
|
rs754706068
|
|
|
NM_022489.4(INF2):c.465C>T (p.Pro155=)
|
|
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
|
NM_022489.4(INF2):c.470G>A (p.Gly157Asp)
|
rs2140647207
|
|
|
NM_022489.4(INF2):c.475G>T (p.Val159Leu)
|
rs781188543
|
|
|
NM_022489.4(INF2):c.483C>T (p.Thr161=)
|
|
|
|
NM_022489.4(INF2):c.485T>C (p.Leu162Pro)
|
rs2140647298
|
|
|
NM_022489.4(INF2):c.490G>A (p.Ala164Thr)
|
|
|
|
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)
|
rs1555373599
|
|
|
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
|
rs1595165937
|
|
|
NM_022489.4(INF2):c.507+14C>A
|
|
|
|
NM_022489.4(INF2):c.507+18G>C
|
rs1244682335
|
|
|
NM_022489.4(INF2):c.507+3G>T
|
|
|
|
NM_022489.4(INF2):c.507+4G>T
|
|
|
|
NM_022489.4(INF2):c.508-13G>C
|
|
|
|
NM_022489.4(INF2):c.508-16C>A
|
rs1889614072
|
|
|
NM_022489.4(INF2):c.508-17C>G
|
|
|
|
NM_022489.4(INF2):c.508-5C>A
|
|
|
|
NM_022489.4(INF2):c.51G>A (p.Lys17=)
|
|
|
|
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)
|
rs1595166085
|
|
|
NM_022489.4(INF2):c.530G>A (p.Arg177His)
|
rs1566778651
|
|
|
NM_022489.4(INF2):c.54G>A (p.Leu18=)
|
|
|
|
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)
|
rs1566778676
|
|
|
NM_022489.4(INF2):c.554T>C (p.Leu185Pro)
|
rs1555373625
|
|
|
NM_022489.4(INF2):c.556T>C (p.Ser186Pro)
|
rs267606877
|
|
|
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
rs753287786
|
|
|
NM_022489.4(INF2):c.578A>G (p.Tyr193Cys)
|
|
|
|
NM_022489.4(INF2):c.583G>A (p.Val195Ile)
|
rs1595166165
|
|
|
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
|
rs1595166165
|
|
|
NM_022489.4(INF2):c.595A>C (p.Ser199Arg)
|
|
|
|
NM_022489.4(INF2):c.599T>G (p.Val200Gly)
|
|
|
|
NM_022489.4(INF2):c.604A>G (p.Asn202Asp)
|
|
|
|
NM_022489.4(INF2):c.605A>G (p.Asn202Ser)
|
rs2140648522
|
|
|
NM_022489.4(INF2):c.607G>A (p.Ala203Thr)
|
rs1213058223
|
|
|
NM_022489.4(INF2):c.619G>T (p.Gly207Cys)
|
|
|
|
NM_022489.4(INF2):c.621C>T (p.Gly207=)
|
|
|
|
NM_022489.4(INF2):c.622C>G (p.Pro208Ala)
|
|
|
|
NM_022489.4(INF2):c.623C>A (p.Pro208His)
|
|
|
|
NM_022489.4(INF2):c.624C>G (p.Pro208=)
|
rs750610272
|
|
|
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
|
rs1012899025
|
|
|
NM_022489.4(INF2):c.630C>T (p.Asp210=)
|
|
|
|
NM_022489.4(INF2):c.637G>A (p.Ala213Thr)
|
|
|
|
NM_022489.4(INF2):c.637G>C (p.Ala213Pro)
|
rs778267218
|
|
|
NM_022489.4(INF2):c.638C>A (p.Ala213Glu)
|
|
|
|
NM_022489.4(INF2):c.640C>G (p.Arg214Gly)
|
|
|
|
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648
|
|
|
NM_022489.4(INF2):c.643A>C (p.Thr215Pro)
|
|
|
|
NM_022489.4(INF2):c.644C>T (p.Thr215Ile)
|
|
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
|
NM_022489.4(INF2):c.657C>T (p.Asn219=)
|
rs2140648862
|
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
|
NM_022489.4(INF2):c.663T>C (p.Phe221=)
|
|
|
|
NM_022489.4(INF2):c.664A>G (p.Ile222Val)
|
rs1889626323
|
|
|
NM_022489.4(INF2):c.664_666dup (p.Ile222dup)
|
rs1889626434
|
|
|
NM_022489.4(INF2):c.667+15T>G
|
|
|
|
NM_022489.4(INF2):c.667+17G>T
|
|
|
|
NM_022489.4(INF2):c.667+20C>A
|
|
|
|
NM_022489.4(INF2):c.667+20C>T
|
rs182087942
|
|
|
NM_022489.4(INF2):c.667+5G>A
|
rs2140648957
|
|
|
NM_022489.4(INF2):c.668-14C>T
|
rs1399790112
|
|
|
NM_022489.4(INF2):c.668-19C>G
|
|
|
|
NM_022489.4(INF2):c.668-4C>T
|
rs1595167027
|
|
|
NM_022489.4(INF2):c.668-9C>G
|
rs1889656184
|
|
|
NM_022489.4(INF2):c.66T>C (p.Asp22=)
|
|
|
|
NM_022489.4(INF2):c.679C>T (p.Leu227=)
|
|
|
|
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
|
rs746964937
|
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
|
NM_022489.4(INF2):c.693T>C (p.Ala231=)
|
rs909373112
|
|
|
NM_022489.4(INF2):c.699G>A (p.Leu233=)
|
|
|
|
NM_022489.4(INF2):c.69G>A (p.Ser23=)
|
|
|
|
NM_022489.4(INF2):c.6G>A (p.Ser2=)
|
|
|
|
NM_022489.4(INF2):c.700C>A (p.Arg234=)
|
rs750014286
|
|
|
NM_022489.4(INF2):c.701+18C>T
|
|
|
|
NM_022489.4(INF2):c.701+7C>A
|
|
|
|
NM_022489.4(INF2):c.702-11C>T
|
|
|
|
NM_022489.4(INF2):c.702-13C>T
|
|
|
|
NM_022489.4(INF2):c.702-15G>A
|
|
|
|
NM_022489.4(INF2):c.702-18del
|
|
|
|
NM_022489.4(INF2):c.723G>A (p.Leu241=)
|
|
|
|
NM_022489.4(INF2):c.724C>T (p.Leu242=)
|
rs2140663300
|
|
|
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
|
|
|
|
NM_022489.4(INF2):c.739G>C (p.Ala247Pro)
|
rs991189454
|
|
|
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
|
rs1211857426
|
|
|
NM_022489.4(INF2):c.743T>C (p.Phe248Ser)
|
|
|
|
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
|
rs1889767212
|
|
|
NM_022489.4(INF2):c.759C>T (p.Ala253=)
|
|
|
|
NM_022489.4(INF2):c.760G>A (p.Glu254Lys)
|
rs1595169407
|
|
|
NM_022489.4(INF2):c.771G>A (p.Glu257=)
|
rs914964640
|
|
|
NM_022489.4(INF2):c.772G>A (p.Glu258Lys)
|
|
|
|
NM_022489.4(INF2):c.774G>A (p.Glu258=)
|
rs369277782
|
|
|
NM_022489.4(INF2):c.77C>T (p.Thr26Met)
|
rs1479164061
|
|
|
NM_022489.4(INF2):c.781C>T (p.Arg261Ter)
|
|
|
|
NM_022489.4(INF2):c.793G>A (p.Gly265Arg)
|
|
|
|
NM_022489.4(INF2):c.798C>A (p.Val266=)
|
rs375005967
|
|
|
NM_022489.4(INF2):c.799G>C (p.Asp267His)
|
|
|
|
NM_022489.4(INF2):c.804G>T (p.Met268Ile)
|
|
|
|
NM_022489.4(INF2):c.83C>T (p.Ala28Val)
|
|
|
|
NM_022489.4(INF2):c.840C>T (p.His280=)
|
rs2140663588
|
|
|
NM_022489.4(INF2):c.844-10G>A
|
rs761236066
|
|
|
NM_022489.4(INF2):c.844-17C>A
|
|
|
|
NM_022489.4(INF2):c.844-20C>A
|
|
|
|
NM_022489.4(INF2):c.844-7C>T
|
rs376927374
|
|
|
NM_022489.4(INF2):c.844-8C>T
|
rs1595170187
|
|
|
NM_022489.4(INF2):c.846G>A (p.Val282=)
|
rs2140665429
|
|
|
NM_022489.4(INF2):c.849C>T (p.Ser283=)
|
|
|
|
NM_022489.4(INF2):c.854C>T (p.Ser285Phe)
|
rs2140665449
|
|
|
NM_022489.4(INF2):c.866C>T (p.Ala289Val)
|
|
|
|
NM_022489.4(INF2):c.867C>T (p.Ala289=)
|
|
|
|
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
|
|
|
|
NM_022489.4(INF2):c.894C>G (p.Leu298=)
|
rs1271012052
|
|
|
NM_022489.4(INF2):c.894C>T (p.Leu298=)
|
|
|
|
NM_022489.4(INF2):c.909C>T (p.Pro303=)
|
rs2140665690
|
|
|
NM_022489.4(INF2):c.917G>A (p.Arg306His)
|
|
|
|
NM_022489.4(INF2):c.923G>A (p.Ser308Asn)
|
|
|
|
NM_022489.4(INF2):c.930G>T (p.Leu310=)
|
rs1253304427
|
|
|
NM_022489.4(INF2):c.93G>A (p.Glu31=)
|
|
|
|
NM_022489.4(INF2):c.940G>A (p.Ala314Thr)
|
rs2140665830
|
|
|
NM_022489.4(INF2):c.942C>T (p.Ala314=)
|
rs774989778
|
|
|
NM_022489.4(INF2):c.945G>A (p.Leu315=)
|
rs1475991845
|
|
|
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
|
rs762702624
|
|
|
NM_022489.4(INF2):c.954C>T (p.Leu318=)
|
|
|
|
NM_022489.4(INF2):c.966C>A (p.Ala322=)
|
|
|
|
NM_022489.4(INF2):c.966C>G (p.Ala322=)
|
rs774024906
|
|
|
NM_022489.4(INF2):c.967G>A (p.Val323Met)
|
rs761806103
|
|
|
NM_022489.4(INF2):c.96C>A (p.Ser32Arg)
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|
|
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NM_022489.4(INF2):c.96C>T (p.Ser32=)
|
rs1354243591
|
|
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NM_022489.4(INF2):c.975G>A (p.Leu325=)
|
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NM_022489.4(INF2):c.985+11G>A
|
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NM_022489.4(INF2):c.985+12G>A
|
|
|
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NM_022489.4(INF2):c.985+13G>A
|
rs752848206
|
|
|
NM_022489.4(INF2):c.985+16A>G
|
|
|
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NM_022489.4(INF2):c.985+5G>A
|
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NM_022489.4(INF2):c.985+5G>C
|
|
|
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NM_022489.4(INF2):c.985+8_985+9del
|
rs1273300522
|
|
|
NM_022489.4(INF2):c.986-10C>T
|
|
|
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NM_022489.4(INF2):c.986-8T>A
|
rs2140666731
|
|
|
NM_022489.4(INF2):c.986C>A (p.Ala329Asp)
|
rs2140666754
|
|
|
NM_022489.4(INF2):c.994T>G (p.Cys332Gly)
|
rs1399811407
|
|
|
NM_022489.4(INF2):c.996C>T (p.Cys332=)
|
rs2140666799
|
|
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NM_022489.4(INF2):c.997A>C (p.Thr333Pro)
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|
|
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NM_022489.4(INF2):c.997A>G (p.Thr333Ala)
|
rs760664321
|
|
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NM_022489.4(INF2):c.99G>A (p.Ala33=)
|
|
|
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NM_022489.4(INF2):c.99G>C (p.Ala33=)
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|
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NM_173689.7(CRB2):c.1151G>T (p.Cys384Phe)
|
rs1198089043
|
|
|
NM_173689.7(CRB2):c.1396C>T (p.Arg466Cys)
|
|
|
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NM_173689.7(CRB2):c.1813C>T (p.Arg605Cys)
|
|
|
|
NM_173689.7(CRB2):c.1827C>A (p.Cys609Ter)
|
rs1388484958
|
|
|
NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser)
|
rs879255250
|
|
|
NM_173689.7(CRB2):c.1886G>C (p.Cys629Ser)
|
rs879255252
|
|
|
NM_173689.7(CRB2):c.2314C>G (p.Leu772Val)
|
rs376152518
|
|
|
NM_173689.7(CRB2):c.2661GTC[1] (p.Ser889del)
|
|
|
|
NM_173689.7(CRB2):c.2803G>C (p.Gly935Arg)
|
|
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
|
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)
|
rs149815227
|
|
|
NM_173689.7(CRB2):c.3220_3228del (p.Leu1074_Asp1076del)
|
|
|
|
NM_173689.7(CRB2):c.3262G>A (p.Gly1088Ser)
|
|
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
|
NM_173689.7(CRB2):c.429C>T (p.Cys143=)
|
rs2041924139
|
|
|
NM_173689.7(CRB2):c.47_53dup (p.Leu19fs)
|
rs1588200023
|
|
|
NM_173689.7(CRB2):c.952G>A (p.Gly318Ser)
|
rs759937525
|
|