NM_025136.4(OPA3):c.*4853T>A
|
rs886054516
|
0.00709
|
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp)
|
rs202243737
|
0.00484
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_194277.3(FRMD7):c.*600C>G
|
rs750133372
|
0.00247
|
NM_025136.4(OPA3):c.*3755G>A
|
rs555830952
|
0.00225
|
NM_025136.4(OPA3):c.*5510G>A
|
rs180756622
|
0.00213
|
NM_001822.7(CHN1):c.*564G>A
|
rs144057045
|
0.00155
|
NM_025136.4(OPA3):c.*2490C>T
|
rs11671670
|
0.00117
|
NM_130837.3(OPA1):c.*1919T>A
|
rs867799524
|
0.00096
|
NM_130837.3(OPA1):c.*1920C>A
|
rs868274533
|
0.00095
|
NM_025136.4(OPA3):c.*5357G>A
|
rs549141863
|
0.00092
|
NM_130837.3(OPA1):c.*2416C>T
|
rs539683627
|
0.00091
|
NM_025136.4(OPA3):c.*677C>T
|
rs560749495
|
0.00086
|
NM_001822.7(CHN1):c.588C>T (p.Asn196=)
|
rs146313212
|
0.00071
|
NM_025136.4(OPA3):c.*3350T>G
|
rs181719786
|
0.00070
|
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)
|
rs141878785
|
0.00064
|
NM_194277.3(FRMD7):c.*573G>T
|
rs963218129
|
0.00064
|
NM_001822.7(CHN1):c.-36C>T
|
rs775399462
|
0.00063
|
NM_025136.4(OPA3):c.*742A>T
|
rs979052921
|
0.00059
|
NM_001173464.2(KIF21A):c.*582G>A
|
rs767760567
|
0.00058
|
NM_025136.4(OPA3):c.*6674T>C
|
rs534603782
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_025136.4(OPA3):c.*1614C>T
|
rs185624158
|
0.00051
|
NM_025136.4(OPA3):c.*4846A>T
|
rs1438623626
|
0.00048
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
NM_130837.3(OPA1):c.*1884C>T
|
rs549889830
|
0.00046
|
NM_001173464.2(KIF21A):c.*451A>G
|
rs183559712
|
0.00045
|
NM_017641.3(KIF21A):c.-345G>A
|
rs886049353
|
0.00044
|
NM_130837.3(OPA1):c.*694C>A
|
rs190367068
|
0.00044
|
NM_130837.3(OPA1):c.*2283A>G
|
rs886058259
|
0.00043
|
NM_025136.4(OPA3):c.*1213C>T
|
rs539298843
|
0.00040
|
NM_130837.3(OPA1):c.*1039A>G
|
rs548278496
|
0.00039
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_001822.7(CHN1):c.237A>G (p.Pro79=)
|
rs377261893
|
0.00038
|
NM_025136.4(OPA3):c.*6902G>A
|
rs528812143
|
0.00037
|
NM_130837.3(OPA1):c.*863A>G
|
rs193292545
|
0.00032
|
NM_025136.4(OPA3):c.*1070C>T
|
rs146989248
|
0.00030
|
NM_025136.4(OPA3):c.*4372G>A
|
rs573344031
|
0.00028
|
NM_025136.4(OPA3):c.*5660A>G
|
rs935989223
|
0.00027
|
NM_001822.7(CHN1):c.*635A>C
|
rs562879539
|
0.00026
|
NM_025136.4(OPA3):c.*1091C>G
|
rs557691359
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)
|
rs201929226
|
0.00024
|
NM_025136.4(OPA3):c.*2714C>T
|
rs781539538
|
0.00024
|
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)
|
rs150159842
|
0.00024
|
NM_025136.4(OPA3):c.*6698G>T
|
rs768694312
|
0.00022
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
NM_025136.4(OPA3):c.*3891C>T
|
rs752997579
|
0.00021
|
NM_025136.4(OPA3):c.*5570C>T
|
rs766783593
|
0.00021
|
NM_001822.7(CHN1):c.1002A>G (p.Glu334=)
|
rs376051698
|
0.00020
|
NM_025136.4(OPA3):c.*5739C>T
|
rs375835737
|
0.00020
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_025136.4(OPA3):c.*5013A>G
|
rs780964248
|
0.00019
|
NM_025136.4(OPA3):c.*6072A>G
|
rs576104602
|
0.00019
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_025136.4(OPA3):c.*3278C>T
|
rs770317628
|
0.00018
|
NM_025136.4(OPA3):c.*5597C>T
|
rs560019290
|
0.00018
|
NM_001173464.2(KIF21A):c.-147C>A
|
rs886049348
|
0.00016
|
NM_001822.7(CHN1):c.*337G>C
|
rs996643545
|
0.00016
|
NM_025136.3(OPA3):c.-96A>G
|
rs566870092
|
0.00016
|
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu)
|
rs193121821
|
0.00016
|
NM_130837.3(OPA1):c.*622C>T
|
rs750359704
|
0.00016
|
NM_005461.5(MAFB):c.577C>T (p.His193Tyr)
|
rs771536349
|
0.00015
|
NM_001173464.2(KIF21A):c.-146G>A
|
rs886049347
|
0.00014
|
NM_025136.4(OPA3):c.*1018A>G
|
rs534682712
|
0.00014
|
NM_025136.4(OPA3):c.*5045C>T
|
rs573380409
|
0.00014
|
NM_025136.4(OPA3):c.*649C>T
|
rs886054537
|
0.00014
|
NM_198721.4(COL25A1):c.130G>A (p.Val44Met)
|
rs201162812
|
0.00014
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_001822.7(CHN1):c.628-15C>T
|
rs529028832
|
0.00012
|
NM_130837.3(OPA1):c.-8C>T
|
rs371988066
|
0.00012
|
NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro)
|
rs776519156
|
0.00012
|
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)
|
rs200345386
|
0.00011
|
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)
|
rs142717432
|
0.00011
|
NM_130837.3(OPA1):c.*2839C>T
|
rs867048244
|
0.00011
|
NM_130837.3(OPA1):c.*2902A>G
|
rs1030937333
|
0.00011
|
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)
|
rs377402921
|
0.00010
|
NM_025136.4(OPA3):c.*5258A>G
|
rs886054512
|
0.00010
|
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)
|
rs148387972
|
0.00010
|
NM_001173464.2(KIF21A):c.44+5G>A
|
rs986920207
|
0.00009
|
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)
|
rs886037884
|
0.00009
|
NM_001822.7(CHN1):c.*252C>T
|
rs1023136528
|
0.00009
|
NM_001822.7(CHN1):c.*756C>T
|
rs759449440
|
0.00009
|
NM_017641.3(KIF21A):c.-339C>A
|
rs886049352
|
0.00009
|
NM_025136.4(OPA3):c.*1863T>G
|
rs769185702
|
0.00009
|
NM_025136.4(OPA3):c.*4773A>G
|
rs1409082190
|
0.00009
|
NM_025136.4(OPA3):c.*5496C>T
|
rs886054511
|
0.00009
|
NM_130837.3(OPA1):c.*322G>A
|
rs886058257
|
0.00009
|
NM_130837.3(OPA1):c.-102G>A
|
rs886058255
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_194277.3(FRMD7):c.*285C>T
|
rs766974170
|
0.00009
|
NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr)
|
rs199857416
|
0.00009
|
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
|
rs201337542
|
0.00008
|
NM_025136.4(OPA3):c.*3644C>T
|
rs914226398
|
0.00008
|
NM_025136.4(OPA3):c.*4521G>A
|
rs886054521
|
0.00008
|
NM_025136.4(OPA3):c.*5873C>T
|
rs886054509
|
0.00008
|
NM_130837.3(OPA1):c.-144T>C
|
rs1057509207
|
0.00008
|
NM_025136.4(OPA3):c.*6361G>A
|
rs1020767023
|
0.00007
|
NM_025136.4(OPA3):c.*821A>T
|
rs886054536
|
0.00007
|
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)
|
rs140638938
|
0.00006
|
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)
|
rs768950391
|
0.00006
|
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)
|
rs143876096
|
0.00006
|
NM_001822.7(CHN1):c.-271T>C
|
rs543170770
|
0.00006
|
NM_025136.4(OPA3):c.*2545G>A
|
rs886054528
|
0.00006
|
NM_025136.4(OPA3):c.*4233G>A
|
rs576081836
|
0.00006
|
NM_025136.4(OPA3):c.*4585C>T
|
rs886054520
|
0.00006
|
NM_025136.4(OPA3):c.*4618G>A
|
rs1165606483
|
0.00006
|
NM_025136.4(OPA3):c.*6278G>A
|
rs886054507
|
0.00006
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
NM_130837.3(OPA1):c.*2801A>G
|
rs148268725
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_194277.3(FRMD7):c.*196G>C
|
rs1057515770
|
0.00006
|
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val)
|
rs773037705
|
0.00006
|
NM_001822.7(CHN1):c.*309G>A
|
rs540973790
|
0.00005
|
NM_001822.7(CHN1):c.-206G>A
|
rs1379842544
|
0.00005
|
NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu)
|
rs765652152
|
0.00005
|
NM_001822.7(CHN1):c.7C>T (p.Leu3=)
|
rs755734334
|
0.00005
|
NM_025136.4(OPA3):c.*1462C>T
|
rs978328141
|
0.00005
|
NM_025136.4(OPA3):c.*4586G>A
|
rs886054519
|
0.00005
|
NM_025136.4(OPA3):c.*5730C>T
|
rs1308663626
|
0.00005
|
NM_130837.3(OPA1):c.-3G>A
|
rs964787052
|
0.00005
|
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
|
rs974837695
|
0.00004
|
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)
|
rs770274373
|
0.00004
|
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)
|
rs778220343
|
0.00004
|
NM_001822.7(CHN1):c.*426C>T
|
rs755474438
|
0.00004
|
NM_001822.7(CHN1):c.177C>T (p.Ala59=)
|
rs771446302
|
0.00004
|
NM_001822.7(CHN1):c.297C>T (p.Tyr99=)
|
rs35358913
|
0.00004
|
NM_001822.7(CHN1):c.500C>T (p.Thr167Ile)
|
rs752956891
|
0.00004
|
NM_005461.5(MAFB):c.393C>A (p.His131Gln)
|
rs121912307
|
0.00004
|
NM_025136.4(OPA3):c.*3845C>T
|
rs886054525
|
0.00004
|
NM_025136.4(OPA3):c.*6125G>A
|
rs780617440
|
0.00004
|
NM_025136.4(OPA3):c.*6570G>C
|
rs773109015
|
0.00004
|
NM_025136.4(OPA3):c.*761C>T
|
rs1020788721
|
0.00004
|
NM_025136.4(OPA3):c.*922G>T
|
rs886054535
|
0.00004
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)
|
rs141326740
|
0.00004
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg)
|
rs199576118
|
0.00004
|
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His)
|
rs751994722
|
0.00004
|
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu)
|
rs936878316
|
0.00003
|
NM_001173464.2(KIF21A):c.*65G>A
|
rs888970061
|
0.00003
|
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)
|
rs753640366
|
0.00003
|
NM_001822.7(CHN1):c.147-4T>G
|
rs767192888
|
0.00003
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
NM_025136.4(OPA3):c.*1214G>A
|
rs368652706
|
0.00003
|
NM_025136.4(OPA3):c.*1693C>T
|
rs904110306
|
0.00003
|
NM_025136.4(OPA3):c.*2089T>C
|
rs886054529
|
0.00003
|
NM_025136.4(OPA3):c.*3754C>T
|
rs981647131
|
0.00003
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
NM_130837.3(OPA1):c.*1266G>A
|
rs932178332
|
0.00003
|
NM_130837.3(OPA1):c.*1815T>C
|
rs570796106
|
0.00003
|
NM_130837.3(OPA1):c.*2156A>G
|
rs886058258
|
0.00003
|
NM_130837.3(OPA1):c.*2694T>A
|
rs886058262
|
0.00003
|
NM_130837.3(OPA1):c.*56C>T
|
rs564487151
|
0.00003
|
NM_130837.3(OPA1):c.*743G>C
|
rs377022565
|
0.00003
|
NM_194277.3(FRMD7):c.*300T>C
|
rs1029630139
|
0.00003
|
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=)
|
rs61751728
|
0.00003
|
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp)
|
rs946251964
|
0.00003
|
NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser)
|
rs200651852
|
0.00003
|
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg)
|
rs773298405
|
0.00003
|
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)
|
rs121912838
|
0.00002
|
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp)
|
rs1458182449
|
0.00002
|
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)
|
rs749644826
|
0.00002
|
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)
|
rs748150530
|
0.00002
|
NM_001822.7(CHN1):c.-74C>T
|
rs886055155
|
0.00002
|
NM_001822.7(CHN1):c.964+6T>G
|
rs764237103
|
0.00002
|
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)
|
rs909242045
|
0.00002
|
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)
|
rs778455371
|
0.00002
|
NM_025136.4(OPA3):c.*420A>G
|
rs868102539
|
0.00002
|
NM_025136.4(OPA3):c.*5644A>G
|
rs1393651897
|
0.00002
|
NM_025136.4(OPA3):c.*6124C>T
|
rs1389766474
|
0.00002
|
NM_025136.4(OPA3):c.*964G>A
|
rs1969350328
|
0.00002
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
NM_130837.3(OPA1):c.*403T>C
|
rs779665090
|
0.00002
|
NM_130837.3(OPA1):c.*614A>G
|
rs1321516515
|
0.00002
|
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)
|
rs779722414
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.556+2T>G
|
rs762390227
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr)
|
rs1348263627
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
NM_001173464.2(KIF21A):c.*326T>A
|
rs886049337
|
0.00001
|
NM_001173464.2(KIF21A):c.*531T>C
|
rs1479577907
|
0.00001
|
NM_001173464.2(KIF21A):c.268-14G>T
|
rs762377796
|
0.00001
|
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)
|
rs886049344
|
0.00001
|
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln)
|
rs749290916
|
0.00001
|
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)
|
rs886049339
|
0.00001
|
NM_001173464.2(KIF21A):c.681T>C (p.His227=)
|
rs753495640
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)
|
rs1356639316
|
0.00001
|
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)
|
rs374996228
|
0.00001
|
NM_001822.7(CHN1):c.*154G>A
|
rs529610497
|
0.00001
|
NM_001822.7(CHN1):c.*198A>G
|
rs1198628794
|
0.00001
|
NM_001822.7(CHN1):c.*422C>T
|
rs1294339436
|
0.00001
|
NM_001822.7(CHN1):c.*52T>C
|
rs1211907844
|
0.00001
|
NM_001822.7(CHN1):c.*608A>G
|
rs886055153
|
0.00001
|
NM_001822.7(CHN1):c.*687_*691del
|
rs886055152
|
0.00001
|
NM_001822.7(CHN1):c.193G>A (p.Val65Met)
|
rs370140469
|
0.00001
|
NM_001822.7(CHN1):c.550-4G>A
|
rs972339540
|
0.00001
|
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)
|
rs1689781072
|
0.00001
|
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)
|
rs202153128
|
0.00001
|
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu)
|
rs1290466873
|
0.00001
|
NM_005461.5(MAFB):c.457G>C (p.Asp153His)
|
rs893483748
|
0.00001
|
NM_017641.3(KIF21A):c.-245C>T
|
rs886049350
|
0.00001
|
NM_017641.3(KIF21A):c.-392G>C
|
rs886049354
|
0.00001
|
NM_025136.4(OPA3):c.*1063G>A
|
rs1384983234
|
0.00001
|
NM_025136.4(OPA3):c.*1193A>G
|
rs1969345485
|
0.00001
|
NM_025136.4(OPA3):c.*1496C>T
|
rs938973035
|
0.00001
|
NM_025136.4(OPA3):c.*1799A>G
|
rs886054530
|
0.00001
|
NM_025136.4(OPA3):c.*2041C>G
|
rs1200054696
|
0.00001
|
NM_025136.4(OPA3):c.*2620C>A
|
rs528208456
|
0.00001
|
NM_025136.4(OPA3):c.*322A>G
|
rs886054539
|
0.00001
|
NM_025136.4(OPA3):c.*3472G>A
|
rs1305422353
|
0.00001
|
NM_025136.4(OPA3):c.*3581C>T
|
rs576070088
|
0.00001
|
NM_025136.4(OPA3):c.*4464G>T
|
rs886054522
|
0.00001
|
NM_025136.4(OPA3):c.*4763C>A
|
rs549495140
|
0.00001
|
NM_025136.4(OPA3):c.*5888C>T
|
rs886054508
|
0.00001
|
NM_025136.4(OPA3):c.*6046G>A
|
rs1010630541
|
0.00001
|
NM_025136.4(OPA3):c.*6461C>T
|
rs886054505
|
0.00001
|
NM_025136.4(OPA3):c.*6773G>T
|
rs886054504
|
0.00001
|
NM_025136.4(OPA3):c.*7072A>T
|
rs1247746346
|
0.00001
|
NM_025136.4(OPA3):c.*7183G>A
|
rs941194280
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
|
rs753632531
|
0.00001
|
NM_032273.4(TMEM126A):c.-16G>C
|
rs548326357
|
0.00001
|
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
|
rs546358774
|
0.00001
|
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val)
|
rs886048713
|
0.00001
|
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)
|
rs886048714
|
0.00001
|
NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr)
|
rs1327054264
|
0.00001
|
NM_130837.3(OPA1):c.*1131C>T
|
rs1004141070
|
0.00001
|
NM_130837.3(OPA1):c.*1581A>C
|
rs976048011
|
0.00001
|
NM_130837.3(OPA1):c.*2241A>G
|
rs778074372
|
0.00001
|
NM_130837.3(OPA1):c.*2861A>G
|
rs1456505503
|
0.00001
|
NM_130837.3(OPA1):c.*341G>T
|
rs1042977453
|
0.00001
|
NM_130837.3(OPA1):c.-10C>T
|
rs775614028
|
0.00001
|
NM_130837.3(OPA1):c.1036-9T>C
|
rs531187028
|
0.00001
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)
|
rs762258708
|
0.00001
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)
|
rs1166323851
|
0.00001
|
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)
|
rs760177302
|
0.00001
|
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)
|
rs782744167
|
0.00001
|
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)
|
rs781786336
|
0.00001
|
NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu)
|
rs1308080722
|
0.00001
|
NM_194277.3(FRMD7):c.285-3C>T
|
rs750320516
|
0.00001
|
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr)
|
rs759784671
|
0.00001
|
NM_194277.3(FRMD7):c.58-6G>A
|
rs750979330
|
0.00001
|
46;XX;inv(14)(q24.1q32.1)dn
|
|
|
46;XX;inv(5)(q14q33)dn
|
|
|
46;XX;t(1;13)(q11.2;p11.2)dn
|
|
|
46;XY;t(16;20)(q11.2;q13.2)dn
|
|
|
46;XY;t(1;14)(q42;q13)
|
|
|
46;XY;t(1;3)(p22;q21)dn
|
|
|
46;XY;t(2;14)(p23;q13)dn
|
|
|
46;XY;t(4;14)(p14;q11.2)dn
|
|
|
46;XY;t(4;14)(p15.32;q32.1)dn
|
|
|
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
|
|
|
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
|
|
|
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
|
|
|
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
|
|
|
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
|
|
|
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
|
|
|
NC_012920.1(MT-CYB):m.14795T>C
|
rs1603224896
|
|
NC_012920.1(MT-CYB):m.15437G>A
|
rs878853058
|
|
NC_012920.1:m.11360A>G
|
rs878928689
|
|
NC_012920.1:m.11443A>C
|
rs1556423952
|
|
NC_012920.1:m.3275C>T
|
rs1057516057
|
|
NC_012920.1:m.7373A>G
|
rs1057516060
|
|
NC_012920.1:m.8851T>C
|
rs199476136
|
|
NM_000273.3(GPR143):c.131G>A (p.Gly44Asp)
|
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001098.3(ACO2):c.1348C>T (p.Pro450Ser)
|
|
|
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
|
|
|
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
|
|
|
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del)
|
rs2066638829
|
|
NM_001098.3(ACO2):c.317C>T (p.Ala106Val)
|
rs2146115810
|
|
NM_001098.3(ACO2):c.75C>T (p.Val25=)
|
rs1057518833
|
|
NM_001173464.2(KIF21A):c.*1010T>C
|
rs886049332
|
|
NM_001173464.2(KIF21A):c.*1022A>T
|
rs886049331
|
|
NM_001173464.2(KIF21A):c.*1157A>T
|
rs886049330
|
|
NM_001173464.2(KIF21A):c.*211C>G
|
rs886049338
|
|
NM_001173464.2(KIF21A):c.*366C>T
|
rs1942069691
|
|
NM_001173464.2(KIF21A):c.*690T>C
|
rs886049336
|
|
NM_001173464.2(KIF21A):c.*690dup
|
rs34373131
|
|
NM_001173464.2(KIF21A):c.*845dup
|
rs886049334
|
|
NM_001173464.2(KIF21A):c.*935A>G
|
rs886049333
|
|
NM_001173464.2(KIF21A):c.-41G>A
|
rs886049346
|
|
NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)
|
|
|
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val)
|
rs375541289
|
|
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)
|
rs886049345
|
|
NM_001173464.2(KIF21A):c.1674-1G>A
|
|
|
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=)
|
rs1947443550
|
|
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr)
|
rs1227646139
|
|
NM_001173464.2(KIF21A):c.2418+2T>C
|
rs1565839016
|
|
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe)
|
rs779688115
|
|
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg)
|
rs764601859
|
|
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu)
|
rs1592198426
|
|
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)
|
rs148166854
|
|
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn)
|
rs886049343
|
|
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)
|
rs1946526630
|
|
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu)
|
rs1316892081
|
|
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)
|
rs886049342
|
|
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)
|
rs1565724893
|
|
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)
|
rs1565724702
|
|
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=)
|
rs1944493997
|
|
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)
|
rs886049341
|
|
NM_001173464.2(KIF21A):c.44+15C>G
|
rs1478935702
|
|
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)
|
rs886049340
|
|
NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)
|
|
|
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu)
|
rs1942967439
|
|
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)
|
rs373406994
|
|
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
|
|
|
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
|
|
|
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
|
|
|
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
|
|
|
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
|
|
|
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
|
|
|
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)
|
rs2122623348
|
|
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
|
|
|
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
|
|
|
NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter)
|
rs1558223606
|
|
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)
|
rs61462443
|
|
NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer)
|
rs782242788
|
|
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)
|
rs755131800
|
|
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)
|
rs1556619324
|
|
NM_001822.7(CHN1):c.*214dup
|
rs574270883
|
|
NM_001822.7(CHN1):c.*256C>T
|
rs771199357
|
|
NM_001822.7(CHN1):c.-104C>T
|
rs886055156
|
|
NM_001822.7(CHN1):c.-160C>G
|
rs572040045
|
|
NM_001822.7(CHN1):c.-23G>T
|
rs1252265676
|
|
NM_001822.7(CHN1):c.-298C>G
|
rs879722535
|
|
NM_001822.7(CHN1):c.-353C>T
|
rs1692031513
|
|
NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly)
|
rs369847378
|
|
NM_001822.7(CHN1):c.225C>G (p.Ser75Arg)
|
rs1452850610
|
|
NM_001822.7(CHN1):c.361T>G (p.Leu121Val)
|
|
|
NM_001822.7(CHN1):c.432G>C (p.Glu144Asp)
|
rs886055154
|
|
NM_001822.7(CHN1):c.435C>T (p.His145=)
|
rs527929031
|
|
NM_001822.7(CHN1):c.628-14dup
|
rs375494218
|
|
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
|
|
|
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
|
|
|
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)
|
rs1765343397
|
|
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
|
|
|
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del)
|
rs752249344
|
|
NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[1])
|
rs759806020
|
|
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
|
|
|
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
|
|
|
NM_004115.4(FGF14):c.193+3C>T
|
|
|
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
|
|
|
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
|
|
|
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
|
|
|
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)
|
rs104894269
|
|
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
|
|
|
NM_005246.4(FER):c.1887A>C (p.Gln629His)
|
|
|
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr)
|
rs750186410
|
|
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)
|
rs1561523716
|
|
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
|
|
|
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
|
|
|
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
|
|
|
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
|
|
|
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)
|
rs1567765029
|
|
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)
|
rs587784506
|
|
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
|
|
|
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)
|
rs1315126444
|
|
NM_006617.2(NES):c.23A>T (p.Glu8Val)
|
|
|
NM_006796.3(AFG3L2):c.1013C>A (p.Ala338Glu)
|
|
|
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
|
|
|
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)
|
rs117182113
|
|
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter)
|
rs199760382
|
|
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His)
|
rs2137523963
|
|
NM_012064.4(MIP):c.513del (p.His172fs)
|
rs1868688386
|
|
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg)
|
rs758233530
|
|
NM_014263.4(YME1L1):c.278C>G (p.Ser93Cys)
|
|
|
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
|
|
|
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
|
|
|
NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)
|
|
|
NM_015560.2(OPA1):c.-182C>A
|
rs532165115
|
|
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
|
|
|
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
|
|
|
NM_017641.3(KIF21A):c.-203C>G
|
rs886049349
|
|
NM_017641.3(KIF21A):c.-335C>G
|
rs886049351
|
|
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
|
|
|
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
|
|
|
NM_021926.4(ALX4):c.2T>C (p.Met1Thr)
|
rs1475499990
|
|
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
|
|
|
NM_025136.4(OPA3):c.*1076A>G
|
rs886054533
|
|
NM_025136.4(OPA3):c.*1254A>C
|
rs886054532
|
|
NM_025136.4(OPA3):c.*1478A>G
|
rs886054531
|
|
NM_025136.4(OPA3):c.*2188G>A
|
rs1969330324
|
|
NM_025136.4(OPA3):c.*2198C>T
|
rs1969330113
|
|
NM_025136.4(OPA3):c.*2590G>T
|
rs886054527
|
|
NM_025136.4(OPA3):c.*2662G>A
|
rs1969322157
|
|
NM_025136.4(OPA3):c.*2702G>T
|
rs886054526
|
|
NM_025136.4(OPA3):c.*2726G>C
|
rs993813343
|
|
NM_025136.4(OPA3):c.*2859A>T
|
rs534780094
|
|
NM_025136.4(OPA3):c.*2896G>A
|
rs190488484
|
|
NM_025136.4(OPA3):c.*2964T>C
|
rs1969317127
|
|
NM_025136.4(OPA3):c.*302C>T
|
rs886054540
|
|
NM_025136.4(OPA3):c.*3156G>T
|
rs1969314043
|
|
NM_025136.4(OPA3):c.*3245C>T
|
rs1969312880
|
|
NM_025136.4(OPA3):c.*3295C>G
|
rs1969311980
|
|
NM_025136.4(OPA3):c.*3358C>G
|
rs965480314
|
|
NM_025136.4(OPA3):c.*3496C>G
|
rs749084024
|
|
NM_025136.4(OPA3):c.*3570C>T
|
rs1969307390
|
|
NM_025136.4(OPA3):c.*3669G>T
|
rs1024454874
|
|
NM_025136.4(OPA3):c.*3804G>A
|
rs890552307
|
|
NM_025136.4(OPA3):c.*4241C>T
|
rs375276027
|
|
NM_025136.4(OPA3):c.*4419C>T
|
rs886054523
|
|
NM_025136.4(OPA3):c.*4771C>G
|
rs972332094
|
|
NM_025136.4(OPA3):c.*4969C>G
|
rs886054513
|
|
NM_025136.4(OPA3):c.*4975C>T
|
rs567309052
|
|
NM_025136.4(OPA3):c.*545G>T
|
rs886054538
|
|
NM_025136.4(OPA3):c.*5774G>C
|
rs886054510
|
|
NM_025136.4(OPA3):c.*5774G>T
|
rs886054510
|
|
NM_025136.4(OPA3):c.*6766C>T
|
rs978118927
|
|
NM_025136.4(OPA3):c.*690G>T
|
rs1969355536
|
|
NM_025136.4(OPA3):c.*713C>G
|
rs143735864
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
NM_025136.4(OPA3):c.301T>C (p.Tyr101His)
|
rs1969377552
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
|
|
|
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
|
rs758982194
|
|
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
|
|
|
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
|
|
|
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
|
|
|
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
|
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
|
|
|
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
|
|
|
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
|
|
|
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
|
rs750946088
|
|
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
|
rs1293731096
|
|
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
|
|
|
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
|
rs767372876
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
|
|
|
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
|
rs1302916174
|
|
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
|
|
|
NM_025136.4(OPA3):c.81del (p.Lys28fs)
|
|
|
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
|
rs1194417590
|
|
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
|
|
|
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
|
|
|
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
|
|
|
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys)
|
rs2067593629
|
|
NM_032273.4(TMEM126A):c.-98C>G
|
rs2082473214
|
|
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)
|
rs768503384
|
|
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)
|
rs374124838
|
|
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)
|
rs999281366
|
|
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)
|
rs2082541296
|
|
NM_032730.5(RTN4IP1):c.-328G>T
|
|
|
NM_032730.5(RTN4IP1):c.1007T>A (p.Val336Asp)
|
|
|
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle)
|
rs2114690778
|
|
NM_032730.5(RTN4IP1):c.275-1299T>C
|
|
|
NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)
|
|
|
NM_032730.5(RTN4IP1):c.508C>T (p.Pro170Ser)
|
rs2114677058
|
|
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
|
|
|
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
|
|
|
NM_130837.3(OPA1):c.*2170A>G
|
rs921945798
|
|
NM_130837.3(OPA1):c.*2234G>A
|
rs1577422301
|
|
NM_130837.3(OPA1):c.*260G>T
|
rs886058256
|
|
NM_130837.3(OPA1):c.*2692G>A
|
rs886058261
|
|
NM_130837.3(OPA1):c.*2909A>T
|
rs886058263
|
|
NM_130837.3(OPA1):c.*3147G>C
|
rs886058264
|
|
NM_130837.3(OPA1):c.*427A>T
|
rs565230692
|
|
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
|
|
|
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1149+3A>T
|
rs1733207545
|
|
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)
|
rs1313421147
|
|
NM_130837.3(OPA1):c.1377+6T>A
|
|
|
NM_130837.3(OPA1):c.1839G>A (p.Glu613=)
|
rs1734784679
|
|
NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln)
|
rs1157991384
|
|
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)
|
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)
|
rs794726939
|
|
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys)
|
rs1728788655
|
|
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
|
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
|
|
|
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
|
|
|
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)
|
rs1347426414
|
|
NM_130837.3(OPA1):c.990C>T (p.Leu330=)
|
rs201242590
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)
|
rs2075231562
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
|
|
|
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
|
|
|
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
|
|
|
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
|
|
|
NM_176795.5(HRAS):c.500dup (p.Pro169fs)
|
rs35613389
|
|
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
|
|
|
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys)
|
rs1554534086
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
|
|
|
NM_194277.3(FRMD7):c.*293G>C
|
rs1057515769
|
|
NM_194277.3(FRMD7):c.-100G>T
|
rs1057515772
|
|
NM_194277.3(FRMD7):c.-102G>A
|
rs1057515773
|
|
NM_194277.3(FRMD7):c.285-12A>G
|
rs1486391487
|
|
NM_194277.3(FRMD7):c.384A>G (p.Ser128=)
|
rs1927977937
|
|
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
|
|
|
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg)
|
rs1057515771
|
|
m.13708G>A
|
rs28359178
|
|
m.15257G>A
|
rs41518645
|
|
m.4216T>C
|
rs1599988
|
|
m.4917A>G
|
rs28357980
|
|