NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
NM_000128.4(F11):c.731A>G (p.Gln244Arg)
|
rs5969
|
0.00564
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)
|
rs41267007
|
0.00202
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_000552.5(VWF):c.1463C>G (p.Ala488Gly)
|
rs144817575
|
0.00098
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)
|
rs150401285
|
0.00047
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)
|
rs201909029
|
0.00038
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000128.4(F11):c.1305-5C>T
|
rs375998777
|
0.00032
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_001130004.2(ACTN1):c.2587-26C>T
|
rs752352598
|
0.00018
|
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)
|
rs150923481
|
0.00016
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
NM_000552.5(VWF):c.7849C>A (p.Leu2617Met)
|
rs371948517
|
0.00013
|
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met)
|
rs373336653
|
0.00012
|
NM_000130.5(F5):c.1128G>T (p.Arg376Ser)
|
rs373172802
|
0.00010
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000132.4(F8):c.3980C>T (p.Thr1327Met)
|
rs200520711
|
0.00009
|
NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu)
|
rs137958110
|
0.00009
|
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)
|
rs754025975
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000128.4(F11):c.783G>C (p.Glu261Asp)
|
rs201079681
|
0.00007
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
NM_000128.4(F11):c.1328G>A (p.Arg443His)
|
rs373212439
|
0.00006
|
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys)
|
rs61751283
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln)
|
rs200358667
|
0.00005
|
NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile)
|
rs200605188
|
0.00004
|
NM_000419.5(ITGA2B):c.3060+2T>C
|
rs74664206
|
0.00004
|
NM_000552.5(VWF):c.1514G>A (p.Arg505His)
|
rs139830291
|
0.00004
|
NM_000552.5(VWF):c.1901C>T (p.Ala634Val)
|
rs761282513
|
0.00004
|
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu)
|
rs777556669
|
0.00004
|
NM_021870.3(FGG):c.447C>A (p.Asn149Lys)
|
rs751435976
|
0.00004
|
NM_000130.5(F5):c.4862G>A (p.Arg1621Gln)
|
rs764766417
|
0.00003
|
NM_000130.5(F5):c.5621T>C (p.Met1874Thr)
|
rs377129476
|
0.00003
|
NM_000132.4(F8):c.6901-725T>C
|
rs1393847621
|
0.00003
|
NM_000312.4(PROC):c.386G>A (p.Arg129His)
|
rs746190838
|
0.00003
|
NM_000312.4(PROC):c.571G>C (p.Glu191Gln)
|
rs777364878
|
0.00003
|
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser)
|
rs748858986
|
0.00003
|
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro)
|
rs779469907
|
0.00003
|
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu)
|
rs748630360
|
0.00003
|
NM_000313.4(PROS1):c.77-1346A>G
|
rs767606472
|
0.00003
|
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu)
|
rs62643631
|
0.00003
|
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile)
|
rs923531708
|
0.00003
|
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)
|
rs569962285
|
0.00003
|
NM_000934.4(SERPINF2):c.64-3C>T
|
rs1173047022
|
0.00003
|
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)
|
rs770266168
|
0.00003
|
NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe)
|
rs771354261
|
0.00003
|
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)
|
rs146846923
|
0.00003
|
NM_000130.5(F5):c.911G>A (p.Gly304Glu)
|
rs865947251
|
0.00002
|
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)
|
rs374928728
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000361.3(THBD):c.1433C>T (p.Thr478Ile)
|
rs574192210
|
0.00002
|
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr)
|
rs776681874
|
0.00002
|
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)
|
rs143979758
|
0.00002
|
NM_022788.5(P2RY12):c.600T>G (p.Ile200Met)
|
rs943960274
|
0.00002
|
NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg)
|
rs747029495
|
0.00002
|
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)
|
rs371852125
|
0.00002
|
NM_181507.2(HPS5):c.2718-12A>G
|
rs759757206
|
0.00002
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)
|
rs1384690038
|
0.00001
|
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser)
|
rs781502355
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)
|
rs1189569754
|
0.00001
|
NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu)
|
rs1424014771
|
0.00001
|
NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg)
|
rs1051842719
|
0.00001
|
NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro)
|
rs750315624
|
0.00001
|
NM_000419.5(ITGA2B):c.1210+105A>G
|
rs992856733
|
0.00001
|
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp)
|
rs757116551
|
0.00001
|
NM_000419.5(ITGA2B):c.624+5G>A
|
rs373730428
|
0.00001
|
NM_000504.4(F10):c.535C>T (p.Arg179Cys)
|
rs1277295882
|
0.00001
|
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu)
|
rs932134873
|
0.00001
|
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser)
|
rs765163545
|
0.00001
|
NM_000552.5(VWF):c.3108+5G>A
|
rs61748495
|
0.00001
|
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr)
|
rs759805079
|
0.00001
|
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile)
|
rs533417176
|
0.00001
|
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg)
|
rs746837624
|
0.00001
|
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)
|
rs1276647740
|
0.00001
|
NM_001130004.2(ACTN1):c.1159C>T (p.Arg387Trp)
|
rs1594768518
|
0.00001
|
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)
|
rs372504780
|
0.00001
|
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)
|
rs753406078
|
0.00001
|
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys)
|
rs779218645
|
0.00001
|
NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys)
|
rs775434135
|
0.00001
|
NM_005141.5(FGB):c.1058A>G (p.Lys353Arg)
|
rs763287118
|
0.00001
|
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)
|
rs1362658024
|
0.00001
|
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)
|
rs1320380958
|
0.00001
|
NM_019616.4(F7):c.217G>A (p.Glu73Lys)
|
rs550453328
|
0.00001
|
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg)
|
rs772897521
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
46,XX,der(X)(p22.13,p22.13)dn.seq[GRCh37/hg19]der(X)(Xpter->Xp22.13(+)(18074005)::GCA...CAC{100}::p22.13(-)(18532312),p22.13(-)(17793009)::p22.13(+)(18248956)->Xqter)dn
|
|
|
NC_000002.12:g.203867482_203869297del
|
|
|
NC_000002.12:g.203870597_203875386del
|
|
|
NC_000022.11:g.19721912_19724790del
|
|
|
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn)
|
rs1283517835
|
|
NM_000128.4(F11):c.-2G>C
|
rs1580057911
|
|
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys)
|
rs1580090672
|
|
NM_000128.4(F11):c.1137G>C (p.Glu379Asp)
|
rs1580098240
|
|
NM_000128.4(F11):c.1192G>A (p.Glu398Lys)
|
rs746475013
|
|
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys)
|
rs755529772
|
|
NM_000128.4(F11):c.1699G>A (p.Gly567Arg)
|
rs1580108251
|
|
NM_000128.4(F11):c.1751A>T (p.Asn584Ile)
|
rs773581347
|
|
NM_000128.4(F11):c.1772G>C (p.Gly591Ala)
|
rs1580110270
|
|
NM_000128.4(F11):c.634G>A (p.Asp212Asn)
|
rs1580080555
|
|
NM_000130.5(F5):c.1975G>A (p.Gly659Arg)
|
rs759167620
|
|
NM_000130.5(F5):c.333C>A (p.Ser111Arg)
|
rs1571598716
|
|
NM_000130.5(F5):c.358A>G (p.Ser120Gly)
|
rs1571598694
|
|
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn)
|
rs1571572228
|
|
NM_000130.5(F5):c.773T>C (p.Leu258Pro)
|
rs975505802
|
|
NM_000132.4(F8):c.5164G>A (p.Val1722Met)
|
rs1603433719
|
|
NM_000132.4(F8):c.5587-98G>A
|
rs1603432993
|
|
NM_000132.4(F8):c.6751G>A (p.Val2251Met)
|
rs1603431480
|
|
NM_000132.4(F8):c.788-14T>G
|
rs1603435417
|
|
NM_000132.4(F8):c.926C>T (p.Pro309Leu)
|
rs1603435401
|
|
NM_000133.4(F9):c.520+13A>G
|
rs1603265507
|
|
NM_000133.4(F9):c.740A>C (p.Lys247Thr)
|
rs1603267173
|
|
NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg)
|
rs1597638430
|
|
NM_000180.4(GUCY2D):c.901_908del (p.Leu301fs)
|
rs1555634713
|
|
NM_000212.3(ITGB3):c.1302G>C (p.Gln434His)
|
rs1598694591
|
|
NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg)
|
rs1598694712
|
|
NM_000212.3(ITGB3):c.2128G>A (p.Glu710Lys)
|
rs1471737872
|
|
NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu)
|
rs1598702813
|
|
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln)
|
rs1582940083
|
|
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly)
|
rs1582955692
|
|
NM_000301.5(PLG):c.950+4A>G
|
rs1582937995
|
|
NM_000312.4(PROC):c.1313T>C (p.Val438Ala)
|
rs1573461697
|
|
NM_000312.4(PROC):c.673T>G (p.Trp225Gly)
|
rs1277271891
|
|
NM_000312.4(PROC):c.819G>T (p.Trp273Cys)
|
rs1573459299
|
|
NM_000312.4(PROC):c.908T>G (p.Leu303Arg)
|
rs1573459781
|
|
NM_000313.4(PROS1):c.1112T>C (p.Ile371Thr)
|
rs1164683109
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys)
|
rs1576175763
|
|
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser)
|
rs1323663956
|
|
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly)
|
rs121918476
|
|
NM_000313.4(PROS1):c.1973A>G (p.His658Arg)
|
rs1576170541
|
|
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly)
|
rs1576186985
|
|
NM_000313.4(PROS1):c.550del (p.Cys184fs)
|
rs1576186962
|
|
NM_000361.3(THBD):c.778C>G (p.Pro260Ala)
|
rs1362772246
|
|
NM_000377.3(WAS):c.217T>A (p.Cys73Ser)
|
rs1602176652
|
|
NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe)
|
rs1601248319
|
|
NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg)
|
rs1464643023
|
|
NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly)
|
rs1601248880
|
|
NM_000419.5(ITGA2B):c.188+5G>T
|
rs1598385156
|
|
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg)
|
rs1598376647
|
|
NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser)
|
rs1598376124
|
|
NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg)
|
rs1598375569
|
|
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)
|
rs879255514
|
|
NM_000460.4(THPO):c.610dup (p.Glu204fs)
|
rs776536238
|
|
NM_000460.4(THPO):c.805dup (p.Leu269fs)
|
rs1577354471
|
|
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)
|
rs1572084546
|
|
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)
|
rs1572088824
|
|
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys)
|
rs1572088737
|
|
NM_000504.4(F10):c.1237G>A (p.Asp413Asn)
|
rs1595099677
|
|
NM_000504.4(F10):c.1321G>A (p.Glu441Lys)
|
rs1305872315
|
|
NM_000504.4(F10):c.241T>G (p.Trp81Gly)
|
rs1595092916
|
|
NM_000504.4(F10):c.702G>C (p.Arg234Ser)
|
rs1595096266
|
|
NM_000552.5(VWF):c.182T>C (p.Leu61Pro)
|
rs1306914162
|
|
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe)
|
rs776987924
|
|
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg)
|
rs1591880825
|
|
NM_000552.5(VWF):c.2686-7T>G
|
rs1591871882
|
|
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp)
|
rs1591867991
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)
|
rs1591863438
|
|
NM_000552.5(VWF):c.435C>G (p.Asn145Lys)
|
rs1591924311
|
|
NM_000552.5(VWF):c.4473G>C (p.Lys1491Asn)
|
rs1591862624
|
|
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg)
|
rs1591862393
|
|
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn)
|
rs1591862230
|
|
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro)
|
rs1591862118
|
|
NM_000552.5(VWF):c.5170+5G>A
|
rs1591860863
|
|
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr)
|
rs1591849732
|
|
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile)
|
rs761604165
|
|
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys)
|
rs779764302
|
|
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His)
|
rs1591848338
|
|
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp)
|
rs1232884671
|
|
NM_000552.5(VWF):c.6798+5G>A
|
rs1591847103
|
|
NM_000552.5(VWF):c.6798+6A>G
|
rs1591847100
|
|
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg)
|
rs1591838774
|
|
NM_000552.5(VWF):c.814G>C (p.Ala272Pro)
|
rs747799959
|
|
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg)
|
rs1591827147
|
|
NM_000552.5(VWF):c.8275A>G (p.Met2759Val)
|
rs776211115
|
|
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu)
|
rs1591826730
|
|
NM_000930.5(PLAT):c.1271G>T (p.Ser424Ile)
|
rs1587928114
|
|
NM_000930.5(PLAT):c.826C>T (p.Pro276Ser)
|
rs367827951
|
|
NM_001060.6(TBXA2R):c.340TTC[1] (p.Phe115del)
|
rs775726146
|
|
NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys)
|
rs201364793
|
|
NM_001083899.2(GP6):c.278del (p.Gly93fs)
|
rs1321226182
|
|
NM_001099274.3(TINF2):c.1061+1G>T
|
rs1594550523
|
|
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
|
rs1830718809
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
|
rs895393705
|
|
NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser)
|
rs1594771139
|
|
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)
|
rs1594768482
|
|
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr)
|
rs1454176065
|
|
NM_001130004.2(ACTN1):c.1600G>C (p.Asp534His)
|
rs1594758027
|
|
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys)
|
rs867564562
|
|
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)
|
rs1594751712
|
|
NM_001130004.2(ACTN1):c.2267A>G (p.Asn756Ser)
|
rs1594751627
|
|
NM_001130004.2(ACTN1):c.299T>C (p.Ile100Thr)
|
rs1594816590
|
|
NM_001130004.2(ACTN1):c.415A>G (p.Ile139Val)
|
rs1594803107
|
|
NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly)
|
rs1594790030
|
|
NM_001130004.2(ACTN1):c.652A>G (p.Ile218Val)
|
rs1594790025
|
|
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)
|
rs1594773549
|
|
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser)
|
rs1554202833
|
|
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)
|
rs1554163939
|
|
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln)
|
rs1289430524
|
|
NM_001364905.1(LRBA):c.2258+3dup
|
rs1579059712
|
|
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly)
|
rs1057519751
|
|
NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg)
|
rs1601470582
|
|
NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser)
|
rs1591749381
|
|
NM_001987.5(ETV6):c.1251C>G (p.Phe417Leu)
|
rs1591750603
|
|
NM_001987.5(ETV6):c.464-50_1009+50del
|
rs1591735032
|
|
NM_001987.5(ETV6):c.791G>A (p.Arg264His)
|
rs150621299
|
|
NM_002049.4(GATA1):c.816T>A (p.Asn272Lys)
|
rs1602220724
|
|
NM_002049.4(GATA1):c.824G>C (p.Gly275Ala)
|
rs1602220740
|
|
NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del)
|
rs1603484057
|
|
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser)
|
rs1057520107
|
|
NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu)
|
rs1603484050
|
|
NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn)
|
rs777484384
|
|
NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup)
|
rs1603482974
|
|
NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu)
|
rs1603482935
|
|
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala)
|
rs1603482879
|
|
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)
|
rs566978904
|
|
NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg)
|
rs1603482803
|
|
NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly)
|
rs1603482754
|
|
NM_002473.6(MYH9):c.5032A>G (p.Met1678Val)
|
rs901232499
|
|
NM_005141.4(FGB):c.586C>T (p.Arg196Cys)
|
rs121909623
|
|
NM_005141.5(FGB):c.478A>C (p.Lys160Gln)
|
rs1578782707
|
|
NM_005141.5(FGB):c.853C>T (p.Arg285Cys)
|
rs1578784790
|
|
NM_005141.5(FGB):c.959G>A (p.Gly320Asp)
|
rs1578785100
|
|
NM_014915.3(ANKRD26):c.-116C>T
|
rs1589393739
|
|
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)
|
rs1203437621
|
|
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro)
|
rs1575602690
|
|
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)
|
rs1320075072
|
|
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)
|
rs2036808727
|
|
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)
|
rs1001207491
|
|
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
|
rs771025246
|
|
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)
|
rs2037277207
|
|
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu)
|
rs1575623184
|
|
NM_015175.3(NBEAL2):c.6656TCT[1] (p.Phe2220del)
|
rs776748718
|
|
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)
|
rs377326649
|
|
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
|
rs1405730457
|
|
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)
|
rs2037641398
|
|
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
|
rs2061098325
|
|
NM_018947.6(CYCS):c.308C>T (p.Thr103Ile)
|
rs1583394618
|
|
NM_019616.4(F7):c.149C>G (p.Ser50Cys)
|
rs546856641
|
|
NM_019616.4(F7):c.739+7_739+43del
|
rs1309684522
|
|
NM_021870.3(FGG):c.185T>C (p.Val62Ala)
|
rs1578812818
|
|
NM_021870.3(FGG):c.622T>C (p.Cys208Arg)
|
rs1578810954
|
|
NM_021870.3(FGG):c.952G>A (p.Gly318Ser)
|
rs267606810
|
|
NM_022436.3(ABCG5):c.775-3C>G
|
rs764907076
|
|
NM_022788.5(P2RY12):c.524G>A (p.Cys175Tyr)
|
rs1577367042
|
|
NM_024747.6(HPS6):c.1006G>T (p.Asp336Tyr)
|
rs772000976
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys)
|
rs1421750582
|
|
NM_030773.4(TUBB1):c.305C>T (p.Ala102Val)
|
rs1014420517
|
|
NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)
|
rs778975827
|
|
NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu)
|
rs1601238822
|
|
NM_030773.4(TUBB1):c.752G>A (p.Arg251His)
|
rs770226644
|
|
NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp)
|
rs1601239213
|
|
NM_030773.4(TUBB1):c.773T>C (p.Val258Ala)
|
rs1601239226
|
|
NM_030773.4(TUBB1):c.862G>A (p.Glu288Lys)
|
rs916577364
|
|
NM_139276.3(STAT3):c.812C>T (p.Ala271Val)
|
rs1598415756
|
|
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)
|
rs1598415635
|
|
NM_139276.3(STAT3):c.986T>G (p.Met329Arg)
|
rs1555566820
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)
|
rs145417421
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln)
|
rs745371873
|
|
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328
|
|
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr)
|
rs780846352
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
|
rs1599746194
|
|