NM_025136.4(OPA3):c.*4853T>A
|
rs886054516
|
0.00709
|
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_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_025136.4(OPA3):c.*1614C>T
|
rs185624158
|
0.00051
|
NM_025136.4(OPA3):c.*4846A>T
|
rs1438623626
|
0.00048
|
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_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_025136.4(OPA3):c.*2714C>T
|
rs781539538
|
0.00024
|
NM_025136.4(OPA3):c.*6698G>T
|
rs768694312
|
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_130837.3(OPA1):c.*622C>T
|
rs750359704
|
0.00016
|
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_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_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_025136.4(OPA3):c.*5258A>G
|
rs886054512
|
0.00010
|
NM_001173464.2(KIF21A):c.44+5G>A
|
rs986920207
|
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_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_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_130837.3(OPA1):c.*2801A>G
|
rs148268725
|
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_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_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_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_001173464.2(KIF21A):c.*65G>A
|
rs888970061
|
0.00003
|
NM_001822.7(CHN1):c.147-4T>G
|
rs767192888
|
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_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_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_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_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_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_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_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.444C>T (p.Ala148=)
|
rs759536853
|
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_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.3016G>A (p.Ala1006Thr)
|
rs1166323851
|
0.00001
|
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)
|
rs760177302
|
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
|
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.1279A>G (p.Met427Val)
|
rs375541289
|
|
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)
|
rs886049345
|
|
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.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.4814G>A (p.Gly1605Glu)
|
rs1942967439
|
|
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)
|
rs373406994
|
|
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.432G>C (p.Glu144Asp)
|
rs886055154
|
|
NM_001822.7(CHN1):c.435C>T (p.His145=)
|
rs527929031
|
|
NM_001822.7(CHN1):c.628-14dup
|
rs375494218
|
|
NM_015560.2(OPA1):c.-182C>A
|
rs532165115
|
|
NM_017641.3(KIF21A):c.-203C>G
|
rs886049349
|
|
NM_017641.3(KIF21A):c.-335C>G
|
rs886049351
|
|
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_032273.4(TMEM126A):c.-98C>G
|
rs2082473214
|
|
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)
|
rs768503384
|
|
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)
|
rs999281366
|
|
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)
|
rs2082541296
|
|
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.1839G>A (p.Glu613=)
|
rs1734784679
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)
|
rs1347426414
|
|
NM_130837.3(OPA1):c.990C>T (p.Leu330=)
|
rs201242590
|
|
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.384A>G (p.Ser128=)
|
rs1927977937
|
|
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg)
|
rs1057515771
|
|