NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000032.4(ALAS2):c.-258C>G
|
rs140772352
|
0.00656
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_004840.3(ARHGEF6):c.166-11T>C
|
rs140322310
|
0.00185
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
|
rs62638625
|
0.00037
|
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498
|
0.00034
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
|
rs191205969
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_001289.6(CLIC2):c.303C>G (p.His101Gln)
|
rs398122917
|
0.00012
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
|
rs1325957874
|
0.00010
|
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)
|
rs62638197
|
0.00009
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)
|
rs397509378
|
0.00006
|
NM_000132.4(F8):c.121G>T (p.Gly41Cys)
|
rs137852379
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)
|
rs62638624
|
0.00005
|
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)
|
rs1269514277
|
0.00005
|
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)
|
rs767354861
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
|
rs122460151
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
|
rs62638208
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)
|
rs201452975
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)
|
rs62638202
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)
|
rs775810789
|
0.00003
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)
|
rs779748859
|
0.00003
|
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)
|
rs778497200
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)
|
rs397509379
|
0.00003
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.2215G>A (p.Glu739Lys)
|
rs28937285
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000132.4(F8):c.601+1632G>A
|
rs387906429
|
0.00002
|
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)
|
rs137852467
|
0.00002
|
NM_000273.3(GPR143):c.360G>A (p.Ala120=)
|
rs281865178
|
0.00002
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)
|
rs587777605
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)
|
rs777555935
|
0.00002
|
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)
|
rs531851447
|
0.00002
|
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)
|
rs376610215
|
0.00002
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)
|
rs28935474
|
0.00001
|
NM_000047.3(ARSL):c.24-1G>A
|
rs762627146
|
0.00001
|
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)
|
rs28935496
|
0.00001
|
NM_000054.7(AVPR2):c.410G>A (p.Arg137His)
|
rs104894756
|
0.00001
|
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp)
|
rs1477466218
|
0.00001
|
NM_000132.4(F8):c.1063C>T (p.Arg355Ter)
|
rs137852368
|
0.00001
|
NM_000132.4(F8):c.1316G>T (p.Gly439Val)
|
rs1362305882
|
0.00001
|
NM_000132.4(F8):c.1569G>T (p.Leu523=)
|
rs782733685
|
0.00001
|
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)
|
rs137852417
|
0.00001
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
0.00001
|
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)
|
rs28935203
|
0.00001
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000132.4(F8):c.5303G>A (p.Arg1768His)
|
rs151202877
|
0.00001
|
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys)
|
rs137852443
|
0.00001
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
NM_000132.4(F8):c.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)
|
rs137852374
|
0.00001
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000132.4(F8):c.940A>G (p.Thr314Ala)
|
rs137852406
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810
|
0.00001
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)
|
rs745554420
|
0.00001
|
NM_000390.4(CHM):c.1446del (p.Gly483fs)
|
rs1244003380
|
0.00001
|
NM_000390.4(CHM):c.1609+2dup
|
rs386833676
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
|
rs122445106
|
0.00001
|
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)
|
rs387907138
|
0.00001
|
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)
|
rs869320682
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
|
rs137853312
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter)
|
rs773573633
|
0.00001
|
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr)
|
rs387907301
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His)
|
rs267607139
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+2T>C
|
rs766862238
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)
|
rs797044676
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
0.00001
|
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg)
|
rs866919041
|
0.00001
|
NM_001399.5(EDA):c.1013C>T (p.Thr338Met)
|
rs132630321
|
0.00001
|
NM_001399.5(EDA):c.467G>A (p.Arg156His)
|
rs132630314
|
0.00001
|
NM_001399.5(EDA):c.526+5G>C
|
rs397516664
|
0.00001
|
NM_001399.5(EDA):c.866G>A (p.Arg289His)
|
rs876657641
|
0.00001
|
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter)
|
rs1309588455
|
0.00001
|
NM_001972.4(ELANE):c.598-1G>A
|
rs201117839
|
0.00001
|
NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr)
|
rs781818996
|
0.00001
|
NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser)
|
rs1276905604
|
0.00001
|
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys)
|
rs748764171
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr)
|
rs387906729
|
0.00001
|
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp)
|
rs199422238
|
0.00001
|
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)
|
rs137853265
|
0.00001
|
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)
|
rs1410075831
|
0.00001
|
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln)
|
rs941190653
|
0.00001
|
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met)
|
rs1357978246
|
0.00001
|
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)
|
rs782072593
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033380.3(COL4A5):c.4315+1G>A
|
rs587776403
|
0.00001
|
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)
|
rs28935479
|
0.00001
|
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)
|
rs1060503011
|
0.00001
|
NM_201599.3(ZMYM3):c.1321C>T (p.Arg441Trp)
|
rs587777358
|
0.00001
|
ARX, ARG2085HIS
|
|
|
CD40LG, 10-BP DEL
|
|
|
CD40LG, THR211ASP
|
|
|
COL4A5, 10-15-KB INS, 40-KB DEL
|
|
|
EDA, 1-BP DEL, EX6
|
|
|
EDA, 36-BP DEL, EX5
|
|
|
Exon 5 deletion, about 2 kb
|
|
|
F8, 23-BP DEL, FS
|
|
|
F8, 89-BP DEL, FS
|
|
|
F8, EX11-18DEL
|
|
|
F8, EX15-22DEL
|
|
|
F8, EX15DEL
|
|
|
F8, EX23-25DEL
|
|
|
F8, EX23-26DEL
|
|
|
F8, EX26DEL
|
|
|
F8, EX5DEL
|
|
|
F8, IVS22 INV
|
|
|
GRCh37/hg19 Xp11.22(chrX:53104986-54034505)
|
|
|
GRCh37/hg19 Xp11.22(chrX:53239546-53349064)x1
|
|
|
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
|
|
|
GRCh37/hg19 Xp22.11(chrX:23395622-23463363)x0
|
|
|
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
|
|
|
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
|
|
|
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
|
|
|
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
|
|
|
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
|
|
|
GRCh37/hg19 Xq13.3(chrX:74641546-74744601)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
|
|
|
GRCh37/hg19 Xq24(chrX:118714474-118718137)
|
|
|
GRCh37/hg19 Xq25(chrX:122970459-123034511)
|
|
|
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
|
|
|
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
|
|
|
GRCh37/hg19 Xq28(chrX:147458752-147628024)
|
|
|
GRCh37/hg19 Xq28(chrX:147642893-147870805)
|
|
|
GRCh37/hg19 Xq28(chrX:149761077-149818374)
|
|
|
GRCh37/hg19 Xq28(chrX:152372767-155233731)
|
|
|
GRCh37/hg19 Xq28(chrX:152980470-153032459)
|
|
|
GRCh37/hg19 Xq28(chrX:153174571-153609996)
|
|
|
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
|
|
|
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
|
|
|
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
|
|
|
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
|
|
|
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
|
|
|
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
|
|
|
GRCh38/hg38 Xq28(chrX:153905292-154361918)
|
|
|
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
|
|
|
L1CAM, 1.3-KB DUP
|
|
|
Multiple alleles
|
|
|
NC_000015.10:g.(?_31001061)_(31161273_?)del
|
|
|
NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup
|
|
|
NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
|
|
|
NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del
|
|
|
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
|
|
|
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
|
|
|
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
|
|
|
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
|
|
|
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
|
|
|
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
|
|
|
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
|
|
|
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
|
|
|
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
|
|
|
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
|
|
|
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
|
|
|
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
|
|
|
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
|
|
|
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
|
|
|
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
|
|
|
NC_000023.10:g.(?_117629935)_(119761021_?)del
|
|
|
NC_000023.10:g.(?_122318388)_(123505241_?)del
|
|
|
NC_000023.10:g.(?_123480147)_(123480649_?)del
|
|
|
NC_000023.10:g.(?_123480493)_(123505241_?)del
|
|
|
NC_000023.10:g.(?_123494030)_(123499653_?)del
|
|
|
NC_000023.10:g.(?_123499591)_(123499694_?)del
|
|
|
NC_000023.10:g.(?_128674417)_(129299630_?)del
|
|
|
NC_000023.10:g.(?_128946967)_(128948896_?)del
|
|
|
NC_000023.10:g.(?_133511648)_(133559360_?)del
|
|
|
NC_000023.10:g.(?_135067662)_(136652229_?)del
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)del
|
|
|
NC_000023.10:g.(?_135730388)_(135737600_?)del
|
|
|
NC_000023.10:g.(?_149613783)_(150573536_?)del
|
|
|
NC_000023.10:g.(?_149761067)_(149761149_?)del
|
|
|
NC_000023.10:g.(?_149761067)_(149840078_?)del
|
|
|
NC_000023.10:g.(?_149826274)_(149840088_?)del
|
|
|
NC_000023.10:g.(?_149831886)_(149840088_?)del
|
|
|
NC_000023.10:g.(?_149831896)_(149832092_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152954020)_(154096327_?)del
|
|
|
NC_000023.10:g.(?_152959340)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_152990712)_(153650075_?)del
|
|
|
NC_000023.10:g.(?_152990722)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_152991573)_(152995898_?)del
|
|
|
NC_000023.10:g.(?_152994617)_(153006193_?)del
|
|
|
NC_000023.10:g.(?_152996855)_(153006103_?)del
|
|
|
NC_000023.10:g.(?_152999896)_(153005554_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153002725_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153001789)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153002601)_(153002715_?)del
|
|
|
NC_000023.10:g.(?_153005725)_(153006804_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_153008655)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008701)_(153011800_?)del
|
|
|
NC_000023.10:g.(?_153287263)_(153363189_?)dup
|
|
|
NC_000023.10:g.(?_153287264)_(153363188_?)dup
|
|
|
NC_000023.10:g.(?_153592874)_(153593874_?)del
|
|
|
NC_000023.10:g.(?_153595748)_(153596947_?)del
|
|
|
NC_000023.10:g.(?_153599231)_(153609567_?)del
|
|
|
NC_000023.10:g.(?_153607393)_(153608624_?)del
|
|
|
NC_000023.10:g.(?_153607825)_(153609577_?)del
|
|
|
NC_000023.10:g.(?_153607835)_(153609567_?)del
|
|
|
NC_000023.10:g.(?_153609093)_(153609182_?)del
|
|
|
NC_000023.10:g.(?_154379237)_(154381523_?)del
|
|
|
NC_000023.10:g.(?_20173516)_(20174387_?)del
|
|
|
NC_000023.10:g.(?_20204394)_(20206108_?)del
|
|
|
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
|
|
|
NC_000023.10:g.(?_24483573)_(25033854_?)del
|
|
|
NC_000023.10:g.(?_2838632)_(2878441_?)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.10:g.(?_43515570)_(43603780_?)del
|
|
|
NC_000023.10:g.(?_43515590)_(43817891_?)del
|
|
|
NC_000023.10:g.(?_46466387)_(47489243_?)del
|
|
|
NC_000023.10:g.(?_46618120)_(48549553_?)del
|
|
|
NC_000023.10:g.(?_48542233)_(48542384_?)del
|
|
|
NC_000023.10:g.(?_53263401)_(53280376_?)del
|
|
|
NC_000023.10:g.(?_53270946)_(53271111_?)del
|
|
|
NC_000023.10:g.(?_53279441)_(53280376_?)del
|
|
|
NC_000023.10:g.(?_68836133)_(69255479_?)del
|
|
|
NC_000023.10:g.(?_68836153)_(68836568_?)del
|
|
|
NC_000023.10:g.(?_68890034)_(69177002_?)del
|
|
|
NC_000023.10:g.(?_68890034)_(69177002_?)dup
|
|
|
NC_000023.10:g.(?_69080668)_(69177002_?)del
|
|
|
NC_000023.10:g.(?_69080668)_(69177002_?)dup
|
|
|
NC_000023.10:g.(?_69176857)_(69255459_?)del
|
|
|
NC_000023.10:g.(?_69235004)_(69247795_?)del
|
|
|
NC_000023.10:g.(?_69243048)_(69247906_?)del
|
|
|
NC_000023.10:g.(?_69243048)_(69255479_?)del
|
|
|
NC_000023.10:g.(?_69255198)_(69255469_?)del
|
|
|
NC_000023.10:g.(?_70337406)_(70363304_?)del
|
|
|
NC_000023.10:g.(?_76759356)_(77042755_?)del
|
|
|
NC_000023.10:g.(?_76763809)_(77041507_?)del
|
|
|
NC_000023.10:g.(?_76763829)_(76776414_?)del
|
|
|
NC_000023.10:g.(?_76937002)_(76940508_?)del
|
|
|
NC_000023.10:g.(?_76944291)_(76972740_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
NC_000023.10:g.(?_99551255)_(99905882_?)del
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)del
|
|
|
NC_000023.10:g.(?_99551275)_(100099087_?)del
|
|
|
NC_000023.10:g.(?_99551275)_(99605722_?)del
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)del
|
|
|
NC_000023.10:g.(?_99596891)_(99597083_?)del
|
|
|
NC_000023.10:g.(?_99605624)_(99605722_?)del
|
|
|
NC_000023.10:g.(?_99657775)_(99662816_?)del
|
|
|
NC_000023.10:g.12515801_12581900del
|
|
|
NC_000023.10:g.14693216_14836199del
|
|
|
NC_000023.10:g.22256748_22370988del114241
|
|
|
NC_000023.10:g.24020361_24042839del
|
|
|
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
|
|
|
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
|
|
|
NC_000023.11:g.(154805077_154806947)_(155030999_?)del
|
|
|
NC_000023.11:g.(154863228_154896077)_(155022724_?)del
|
|
|
NC_000023.11:g.(154930804_?)_(?_154933516)del
|
|
|
NC_000023.11:g.(154959165_?)_(?_154963500)del
|
|
|
NC_000023.11:g.(154969553_154984686)_(155022724_?)del
|
|
|
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del
|
|
|
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
|
|
|
NC_000023.11:g.(155246216_?)_(?_155288781)del
|
|
|
NC_000023.11:g.(41853228_41922929)(41923555_?)del
|
|
|
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
|
|
|
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
|
|
|
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
|
|
|
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
|
|
|
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
|
|
|
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
|
|
|
NC_000023.11:g.(74745698_74924882)_(74925453_?)dup
|
|
|
NC_000023.11:g.(?_100296257)_(100296895_?)del
|
|
|
NC_000023.11:g.(?_100296257)_(100342095_?)del
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)del
|
|
|
NC_000023.11:g.(?_100402504)_(100402871_?)del
|
|
|
NC_000023.11:g.(?_100402504)_(100408617_?)del
|
|
|
NC_000023.11:g.(?_123184278)_(123490915_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123888738_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123892793_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123907201_?)del
|
|
|
NC_000023.11:g.(?_123891218)_(123892793_?)del
|
|
|
NC_000023.11:g.(?_124346297)_(124371411_?)del
|
|
|
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
|
|
|
NC_000023.11:g.(?_136648058)_(136654450_?)del
|
|
|
NC_000023.11:g.(?_136648058)_(136659435_?)del
|
|
|
NC_000023.11:g.(?_136654353)_(136654450_?)del
|
|
|
NC_000023.11:g.(?_153736092)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743735_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153740082)_(153740247_?)del
|
|
|
NC_000023.11:g.(?_153742977)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153743201)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
|
|
|
NC_000023.11:g.(?_154835791)_(154837753_?)del
|
|
|
NC_000023.11:g.(?_154835791_(154905024_154906419)del
|
|
|
NC_000023.11:g.(?_154931495)_(154989517_154990580)del
|
|
|
NC_000023.11:g.(?_155022409)_(155022724_?)del
|
|
|
NC_000023.11:g.(?_2934812)_(2958455_?)del
|
|
|
NC_000023.11:g.(?_2934812)_(2960420_?)del
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.(?_69616289)_(69616724_?)del
|
|
|
NC_000023.11:g.(?_69616289)_(69670280_?)del
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)del
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)dup
|
|
|
NC_000023.11:g.(?_69957017)_(69957142_?)del
|
|
|
NC_000023.11:g.(?_70035338)_(70035629_?)del
|
|
|
NC_000023.11:g.155264167_155265545del
|
|
|
NC_000023.11:g.22130083_22232038dup
|
|
|
NC_000023.11:g.22213388_22345581del
|
|
|
NC_000023.11:g.22243338_22690207del
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NC_000023.11:g.48681722_48688043inv
|
|
|
NC_000023.11:g.53254331_53296102dup
|
|
|
NC_000023.11:g.68119248_68212212dup
|
|
|
NC_000023.11:g.86041956_86048370inv
|
|
|
NC_000023.9:g.9688757-?_9693917+?del
|
|
|
NG_007264.1:g.(31343_33421)_(33522_36040)del
|
|
|
NG_007280.1:g.5145_5146insAluAluYb8inv
|
|
|
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
|
|
|
NG_008054.1:g.(35701_?)_(?_50820)del
|
|
|
NG_008197.2:g.(218402_271087)_(271804_315503)dup
|
|
|
NG_008281.1:g.(?_4983)_(8028_10643)del
|
|
|
NG_008292.1:g.700375-?_1335033+?del
|
|
|
NG_008292.2:g.(?_707879)_(1040749_?)del
|
|
|
NG_008960.1:g.224486-?_245539+?del
|
|
|
NG_008960.1:g.337629_355297del
|
|
|
NG_009095.2:g.(16929_16947)_(21383_21401)del
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
|
|
|
NG_011403.1:g.2114_5221del
|
|
|
NG_011403.2:(80027_96047)_(99154_121150)del
|
|
|
NG_011403.2:g.(123429_123635)_(125674_126281)del
|
|
|
NG_011403.2:g.(123819_125556)_(127859_131491)del
|
|
|
NG_011403.2:g.(127859_131491)_(131648_164496)del
|
|
|
NG_011403.2:g.(131648_164496)_(167293_189971)del
|
|
|
NG_011403.2:g.(164642_165857)_(167293_189971)del
|
|
|
NG_011403.2:g.(28246_30628)_(30752_34575)del
|
|
|
NG_011403.2:g.(28246_30628)_(80027_96047)del
|
|
|
NG_011403.2:g.(30752_34575)_(167293_189971)del
|
|
|
NG_011403.2:g.(30752_34575)_(66650_70552)del
|
|
|
NG_011403.2:g.(34789_40418)_(43038_58171)del
|
|
|
NG_011403.2:g.(43038_58171)_(61755_66555)del
|
|
|
NG_011403.2:g.(43038_58171)_(99154_121150)del
|
|
|
NG_011403.2:g.(5000_5315)_(40488_42920)del
|
|
|
NG_011403.2:g.(5315_28123)_(30752_30752)del
|
|
|
NG_011403.2:g.(5315_28123)_(34789_40418)del
|
|
|
NG_011403.2:g.(80027_96047)_(127859_131491)del
|
|
|
NG_011403.2:g.(80027_96047)_(131648_164496)del
|
|
|
NG_011403.2:g.(80027_96047)_(99154_121150)del
|
|
|
NG_011403.2:g.(99154_121150)_(123819_125556)del
|
|
|
NG_011403.2:g.97660_97662delinsAluYb8
|
|
|
NG_011641.2:g.(108110_108560)_(109645_112963)del
|
|
|
NG_011977.2:g.(239831_242576)_(252772_257824)del
|
|
|
NG_011977.2:g.(246966_251107)_?del
|
|
|
NG_011977.2:g.?_(146097_162513)del
|
|
|
NG_016313.2:g.(5527_156380)_(156514_166289)del
|
|
|
NG_016453.2:g.66830_103274del
|
|
|
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser)
|
rs137852300
|
|
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr)
|
rs137852307
|
|
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys)
|
rs137852305
|
|
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys)
|
rs137852311
|
|
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn)
|
rs137852299
|
|
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)
|
rs137852309
|
|
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)
|
rs397514730
|
|
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)
|
rs879255567
|
|
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)
|
rs387906473
|
|
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)
|
rs137852306
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.488G>A (p.Arg163His)
|
rs2146722839
|
|
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu)
|
rs137852301
|
|
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser)
|
rs1557248142
|
|
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)
|
rs28935484
|
|
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His)
|
rs137852310
|
|
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser)
|
rs137852302
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
|
|
|
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
|
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1074dup (p.Glu359fs)
|
|
|
NM_000033.4(ABCD1):c.1081+1G>A
|
rs2091727061
|
|
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
|
|
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
|
rs1603234451
|
|
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
|
rs782266592
|
|
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
|
|
|
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)
|
rs782007706
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)
|
rs1603234501
|
|
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
|
|
|
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000033.4(ABCD1):c.1224+2T>A
|
|
|
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)
|
rs2148395507
|
|
NM_000033.4(ABCD1):c.1225-7_1239del
|
rs1569541009
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
|
|
|
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)
|
rs1557054210
|
|
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
|
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs)
|
rs2148395658
|
|
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)
|
rs1603234574
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1393+1G>A
|
|
|
NM_000033.4(ABCD1):c.1394-2A>G
|
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
|
rs2091752744
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)
|
rs128624222
|
|
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)
|
rs2148396057
|
|
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)
|
rs1557054318
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)
|
rs128624214
|
|
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
|
rs1603234759
|
|
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
|
|
|
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)
|
rs1569540676
|
|
NM_000033.4(ABCD1):c.1488+1G>A
|
rs2091753176
|
|
NM_000033.4(ABCD1):c.1489-1G>A
|
rs1603235263
|
|
NM_000033.4(ABCD1):c.1489-2A>G
|
|
|
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)
|
rs2148397523
|
|
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
|
|
|
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
|
rs2091762383
|
|
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
|
|
|
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
|
rs2091762396
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)
|
rs2148388737
|
|
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552del (p.Arg518fs)
|
rs387906495
|
|
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
|
|
|
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)
|
rs1159943880
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
|
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
|
rs1603235321
|
|
NM_000033.4(ABCD1):c.1634+1G>A
|
rs1569541096
|
|
NM_000033.4(ABCD1):c.1634+1G>C
|
|
|
NM_000033.4(ABCD1):c.1634+1G>T
|
|
|
NM_000033.4(ABCD1):c.1635-1G>A
|
rs1603235389
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
|
|
|
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)
|
rs2148397899
|
|
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)
|
rs1569541115
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
|
|
|
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)
|
rs2148397922
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
|
rs2091764622
|
|
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)
|
rs201114595
|
|
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)
|
rs1557052133
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)
|
rs2148397954
|
|
NM_000033.4(ABCD1):c.1742_1781-968del
|
|
|
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
|
|
|
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)
|
rs2091765003
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1780+2T>G
|
rs1557054875
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)
|
rs2148398002
|
|
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
|
rs1603235901
|
|
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)
|
rs2148398982
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)
|
rs128624225
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)
|
rs2148399034
|
|
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
|
|
|
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
|
|
|
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
|
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
NM_000033.4(ABCD1):c.1853del (p.Met618fs)
|
rs1603235941
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
|
|
|
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)
|
rs2148399209
|
|
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
|
rs2091773525
|
|
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)
|
rs1064793877
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)
|
rs2091773697
|
|
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
|
|
|
NM_000033.4(ABCD1):c.1933del (p.Gln645fs)
|
rs1603236013
|
|
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
|
rs2091774046
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)
|
rs2148399327
|
|
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)
|
rs2148399330
|
|
NM_000033.4(ABCD1):c.1991+1G>A
|
|
|
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)
|
rs2091774163
|
|
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)
|
rs1557055392
|
|
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
|
rs2091702389
|
|
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
|
rs2091775127
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
|
|
|
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)
|
rs2148399483
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
|
|
|
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
|
|
|
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
|
|
|
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
|
|
|
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
|
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)
|
rs2148388538
|
|
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)
|
rs1304001811
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)
|
rs2148389007
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
|
|
|
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
|
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
|
rs1603231897
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)
|
rs128624216
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)
|
rs1557052367
|
|
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
|
|
|
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
|
|
|
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
|
rs2091707324
|
|
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)
|
rs373957035
|
|
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
|
rs2091707458
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
|
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)
|
rs128624217
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)
|
rs2148389350
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.524_526del (p.Phe175del)
|
rs2091707872
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)
|
rs1557052397
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)
|
rs2148389462
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)
|
rs2091708688
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)
|
rs2148389516
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
NM_000033.4(ABCD1):c.668_900+291del
|
rs2148389592
|
|
NM_000033.4(ABCD1):c.697del (p.Ala233fs)
|
rs2148389670
|
|
NM_000033.4(ABCD1):c.70del (p.Leu24fs)
|
rs1557052171
|
|
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
|
|
|
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
|
rs1603232111
|
|
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)
|
rs2148389772
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)
|
rs1557052530
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)
|
rs2148389834
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
|
rs2091711094
|
|
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
|
rs2091711370
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)
|
|
|
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)
|
rs2148389929
|
|
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.855del (p.Val286fs)
|
|
|
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
|
|
|
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)
|
rs128624213
|
|
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)
|
rs387906496
|
|
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
|
|
|
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)
|
rs1557052573
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)
|
rs2148389994
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.893dup (p.His299fs)
|
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-1G>A
|
rs2148391908
|
|
NM_000033.4(ABCD1):c.901-2A>C
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.901-2A>G
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
|
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)
|
rs2148391974
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
|
|
|
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
|
rs2091726671
|
|
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
|
|
|
NM_000047.3(ARSL):c.1289+1G>A
|
rs2147349066
|
|
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr)
|
rs122460155
|
|
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro)
|
rs122460153
|
|
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)
|
rs122460152
|
|
NM_000047.3(ARSL):c.410G>T (p.Gly137Val)
|
rs80338711
|
|
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)
|
rs122460154
|
|
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)
|
rs2077859082
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter)
|
rs104894753
|
|
NM_000054.7(AVPR2):c.102del (p.Leu35fs)
|
rs1569545523
|
|
NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys)
|
rs104894759
|
|
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter)
|
rs104894751
|
|
NM_000054.7(AVPR2):c.24del (p.Ala9fs)
|
rs1557100304
|
|
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)
|
rs104894754
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)
|
rs104894758
|
|
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)
|
rs1557100594
|
|
NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe)
|
rs796052096
|
|
NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)
|
rs104894747
|
|
NM_000054.7(AVPR2):c.468G>A (p.Trp156Ter)
|
|
|
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)
|
rs104894757
|
|
NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys)
|
rs104894748
|
|
NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp)
|
rs104894755
|
|
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)
|
rs104894750
|
|
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)
|
rs104894749
|
|
NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs)
|
rs2148514762
|
|
NM_000054.7(AVPR2):c.738del (p.Arg247fs)
|
rs781942628
|
|
NM_000054.7(AVPR2):c.738dup (p.Arg247fs)
|
rs781942628
|
|
NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer)
|
rs193922119
|
|
NM_000054.7(AVPR2):c.809_810del (p.Val270fs)
|
rs2064966689
|
|
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)
|
rs2064967091
|
|
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys)
|
rs104894752
|
|
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)
|
rs1064797077
|
|
NM_000054.7(AVPR2):c.966del (p.Trp323fs)
|
rs886040961
|
|
NM_000074.2(CD40LG):c.[384T>A;386A>G]
|
|
|
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
|
|
|
NM_000074.3(CD40LG):c.133del (p.Tyr45fs)
|
rs2076095044
|
|
NM_000074.3(CD40LG):c.138del (p.His47fs)
|
|
|
NM_000074.3(CD40LG):c.156+1G>A
|
|
|
NM_000074.3(CD40LG):c.156+2T>C
|
rs2148550585
|
|
NM_000074.3(CD40LG):c.158_161del
|
|
|
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter)
|
rs2148550523
|
|
NM_000074.3(CD40LG):c.189dup (p.Val64fs)
|
rs193922134
|
|
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
|
|
|
NM_000074.3(CD40LG):c.229del (p.Arg77fs)
|
|
|
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
|
|
|
NM_000074.3(CD40LG):c.289-1G>A
|
rs2148552379
|
|
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
|
|
|
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)
|
rs1569376925
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs)
|
rs1569376930
|
|
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
|
|
|
NM_000074.3(CD40LG):c.346+1G>A
|
rs2148552407
|
|
NM_000074.3(CD40LG):c.346+1G>T
|
|
|
NM_000074.3(CD40LG):c.346+5G>A
|
rs2148552412
|
|
NM_000074.3(CD40LG):c.347-1G>A
|
rs2076118841
|
|
NM_000074.3(CD40LG):c.347-2A>G
|
rs1569377237
|
|
NM_000074.3(CD40LG):c.349_409+2del
|
rs2148552900
|
|
NM_000074.3(CD40LG):c.359del (p.Pro120fs)
|
rs1603321138
|
|
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)
|
rs104894778
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter)
|
rs1215852570
|
|
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
|
rs2076119100
|
|
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
|
rs2076119189
|
|
NM_000074.3(CD40LG):c.409+1G>C
|
rs2148552941
|
|
NM_000074.3(CD40LG):c.409+2T>C
|
|
|
NM_000074.3(CD40LG):c.412_419del
|
|
|
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)
|
rs104894777
|
|
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)
|
rs104894777
|
|
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter)
|
rs104894775
|
|
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
|
|
|
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro)
|
rs1387503550
|
|
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
|
|
|
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
|
|
|
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
|
|
|
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro)
|
rs104894769
|
|
NM_000074.3(CD40LG):c.470del (p.Asn157fs)
|
rs2148553684
|
|
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
|
rs2076126996
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
|
|
|
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
|
rs2076127075
|
|
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)
|
rs1603321772
|
|
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
|
rs2076127276
|
|
NM_000074.3(CD40LG):c.559del (p.Ala187fs)
|
rs1556143529
|
|
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
|
|
|
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter)
|
rs2148553738
|
|
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
|
|
|
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)
|
rs1085307733
|
|
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter)
|
rs1603321834
|
|
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)
|
rs104894768
|
|
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter)
|
rs2076127875
|
|
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
|
|
|
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro)
|
rs104894771
|
|
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
|
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
NM_000117.3(EMD):c.101dup (p.Tyr34Ter)
|
rs1569552079
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
NM_000117.3(EMD):c.125del (p.Glu42fs)
|
rs2148128139
|
|
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)
|
rs782011714
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
NM_000117.3(EMD):c.139_140dup (p.Leu48fs)
|
rs2148128153
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
NM_000117.3(EMD):c.449+1G>A
|
rs2148128756
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
NM_000117.3(EMD):c.506_507del (p.Pro169fs)
|
rs1422834817
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
NM_000117.3(EMD):c.547C>A (p.Pro183Thr)
|
rs104894806
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
NM_000117.3(EMD):c.615del (p.Ile206fs)
|
rs2148128932
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
NM_000117.3(EMD):c.631del (p.Arg211fs)
|
rs2148128957
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
NM_000117.3(EMD):c.674_678del (p.Leu225fs)
|
rs1557182692
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
NM_000117.3(EMD):c.82+1G>T
|
rs1557182214
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
NM_000117.3:c.55_83del
|
|
|
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
|
|
|
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter)
|
rs137852408
|
|
NM_000132.4(F8):c.1033G>T (p.Val345Leu)
|
rs137852371
|
|
NM_000132.4(F8):c.1043G>C (p.Cys348Ser)
|
rs137852410
|
|
NM_000132.4(F8):c.104A>G (p.Tyr35Cys)
|
rs137852476
|
|
NM_000132.4(F8):c.1077_1080del (p.Asn359fs)
|
rs387906431
|
|
NM_000132.4(F8):c.1078_1079del (p.Glu360fs)
|
rs387906440
|
|
NM_000132.4(F8):c.1171C>T (p.Arg391Cys)
|
rs137852364
|
|
NM_000132.4(F8):c.1172G>A (p.Arg391His)
|
rs28935499
|
|
NM_000132.4(F8):c.1174T>C (p.Ser392Pro)
|
rs28933669
|
|
NM_000132.4(F8):c.1175C>A (p.Ser392Ter)
|
rs28933668
|
|
NM_000132.4(F8):c.1175C>T (p.Ser392Leu)
|
rs28933668
|
|
NM_000132.4(F8):c.1197_1198del (p.Lys399fs)
|
rs387906441
|
|
NM_000132.4(F8):c.1202G>A (p.Trp401Ter)
|
rs2073424782
|
|
NM_000132.4(F8):c.1203G>A (p.Trp401Ter)
|
rs2124106016
|
|
NM_000132.4(F8):c.1214T>G (p.Ile405Ser)
|
rs28933670
|
|
NM_000132.4(F8):c.1226A>G (p.Glu409Gly)
|
rs28933671
|
|
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs)
|
rs2124105898
|
|
NM_000132.4(F8):c.1271+1G>A
|
rs1603435260
|
|
NM_000132.4(F8):c.1293G>T (p.Leu431Phe)
|
rs28933672
|
|
NM_000132.4(F8):c.1293del (p.Asn432fs)
|
rs387906442
|
|
NM_000132.4(F8):c.1331A>G (p.Lys444Arg)
|
rs28937272
|
|
NM_000132.4(F8):c.1332del (p.Val445fs)
|
rs1375296497
|
|
NM_000132.4(F8):c.1336C>T (p.Arg446Ter)
|
rs137852372
|
|
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn)
|
rs111033616
|
|
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
|
|
|
NM_000132.4(F8):c.1417T>C (p.Tyr473His)
|
rs387906443
|
|
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys)
|
rs387906444
|
|
NM_000132.4(F8):c.143+1116_143+1742del
|
rs2073755958
|
|
NM_000132.4(F8):c.1443+2T>G
|
rs2073420861
|
|
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup)
|
rs2073393487
|
|
NM_000132.4(F8):c.1481T>C (p.Ile494Thr)
|
rs137852413
|
|
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)
|
rs2124099224
|
|
NM_000132.4(F8):c.1492G>A (p.Gly498Arg)
|
rs137852414
|
|
NM_000132.4(F8):c.1506_1516del (p.Arg503fs)
|
rs2124099163
|
|
NM_000132.4(F8):c.1538-1G>T
|
rs1414679955
|
|
NM_000132.4(F8):c.1596dup (p.Thr533fs)
|
rs387906445
|
|
NM_000132.4(F8):c.1630G>A (p.Asp544Asn)
|
rs137852415
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1648C>G (p.Arg550Gly)
|
rs137852417
|
|
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
|
|
|
NM_000132.4(F8):c.1682A>G (p.Asp561Gly)
|
rs137852420
|
|
NM_000132.4(F8):c.1696C>T (p.Leu566Phe)
|
rs2124094420
|
|
NM_000132.4(F8):c.1701del (p.Ile567fs)
|
|
|
NM_000132.4(F8):c.170_179dup (p.Thr61fs)
|
rs2124149047
|
|
NM_000132.4(F8):c.1726G>T (p.Glu576Ter)
|
rs137852421
|
|
NM_000132.4(F8):c.1729T>C (p.Ser577Pro)
|
rs387906446
|
|
NM_000132.4(F8):c.1730C>T (p.Ser577Phe)
|
rs28937282
|
|
NM_000132.4(F8):c.1750C>A (p.Gln584Lys)
|
rs137852422
|
|
NM_000132.4(F8):c.1750del (p.Gln584fs)
|
rs2124094327
|
|
NM_000132.4(F8):c.1754T>C (p.Ile585Thr)
|
rs137852376
|
|
NM_000132.4(F8):c.1784T>C (p.Phe595Ser)
|
rs2073351165
|
|
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)
|
rs137852424
|
|
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)
|
rs137852424
|
|
NM_000132.4(F8):c.1808G>T (p.Ser603Ile)
|
rs137852425
|
|
NM_000132.4(F8):c.1812G>A (p.Trp604Ter)
|
rs137852426
|
|
NM_000132.4(F8):c.1812G>C (p.Trp604Cys)
|
rs137852426
|
|
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser)
|
rs137852427
|
|
NM_000132.4(F8):c.1892A>G (p.Asn631Ser)
|
rs137852429
|
|
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
|
|
|
NM_000132.4(F8):c.1903+5G>A
|
rs2124090120
|
|
NM_000132.4(F8):c.1904-736_2113+2563dup
|
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.1941_1944del (p.Leu650fs)
|
rs2124082382
|
|
NM_000132.4(F8):c.1957G>A (p.Val653Met)
|
rs137852431
|
|
NM_000132.4(F8):c.1958T>C (p.Val653Ala)
|
rs137852430
|
|
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter)
|
rs137852432
|
|
NM_000132.4(F8):c.1988C>T (p.Ala663Val)
|
rs137852433
|
|
NM_000132.4(F8):c.199_200del (p.Lys67fs)
|
rs387906433
|
|
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del)
|
rs1476178386
|
|
NM_000132.4(F8):c.2029T>C (p.Phe677Leu)
|
rs137852434
|
|
NM_000132.4(F8):c.2044G>T (p.Val682Phe)
|
rs1569559755
|
|
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)
|
rs1384374956
|
|
NM_000132.4(F8):c.205_206del (p.Leu69fs)
|
rs1317834655
|
|
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
|
|
|
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)
|
rs387906434
|
|
NM_000132.4(F8):c.2113+461_2113+473del
|
rs781928603
|
|
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs)
|
rs2124054281
|
|
NM_000132.4(F8):c.2150G>T (p.Arg717Leu)
|
rs942909873
|
|
NM_000132.4(F8):c.2162T>C (p.Met721Thr)
|
rs1314906579
|
|
NM_000132.4(F8):c.2163G>T (p.Met721Ile)
|
rs1218576358
|
|
NM_000132.4(F8):c.233del (p.Phe78fs)
|
rs2124148911
|
|
NM_000132.4(F8):c.2383A>T (p.Arg795Ter)
|
rs2228152
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.2506dup (p.Ser836fs)
|
rs2124053251
|
|
NM_000132.4(F8):c.255dup (p.Pro86fs)
|
rs2124148856
|
|
NM_000132.4(F8):c.266G>A (p.Gly89Asp)
|
rs137852380
|
|
NM_000132.4(F8):c.2734_2735del (p.Asn912fs)
|
rs1557278778
|
|
NM_000132.4(F8):c.275G>T (p.Gly92Val)
|
rs137852381
|
|
NM_000132.4(F8):c.286C>T (p.Gln96Ter)
|
rs2124146053
|
|
NM_000132.4(F8):c.2902G>T (p.Glu968Ter)
|
rs782176982
|
|
NM_000132.4(F8):c.2945dup (p.Asn982fs)
|
rs387906447
|
|
NM_000132.4(F8):c.2962_2963del (p.Ser988fs)
|
rs387906448
|
|
NM_000132.4(F8):c.296T>A (p.Val99Asp)
|
rs137852382
|
|
NM_000132.4(F8):c.296T>C (p.Val99Ala)
|
rs137852382
|
|
NM_000132.4(F8):c.302A>G (p.Asp101Gly)
|
rs1312347909
|
|
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs)
|
rs1375894900
|
|
NM_000132.4(F8):c.311T>A (p.Val104Asp)
|
rs137852383
|
|
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
|
|
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
|
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter)
|
rs2073189135
|
|
NM_000132.4(F8):c.328A>G (p.Met110Val)
|
rs137852385
|
|
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
|
|
|
NM_000132.4(F8):c.350T>G (p.Leu117Arg)
|
rs137852386
|
|
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs)
|
rs387906449
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.364_365del (p.Val122fs)
|
rs387906435
|
|
NM_000132.4(F8):c.3692del (p.Pro1231fs)
|
rs387906451
|
|
NM_000132.4(F8):c.3746del (p.Leu1249fs)
|
rs2124050272
|
|
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs)
|
rs1603433779
|
|
NM_000132.4(F8):c.388+1G>A
|
rs1377354928
|
|
NM_000132.4(F8):c.388G>C (p.Gly130Arg)
|
rs137852387
|
|
NM_000132.4(F8):c.3964del (p.Gln1322fs)
|
rs2073183197
|
|
NM_000132.4(F8):c.398A>G (p.Tyr133Cys)
|
rs137852389
|
|
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs)
|
rs2124049493
|
|
NM_000132.4(F8):c.404A>G (p.Asp135Gly)
|
rs137852390
|
|
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
|
|
|
NM_000132.4(F8):c.410C>T (p.Thr137Ile)
|
rs137852391
|
|
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)
|
rs387906452
|
|
NM_000132.4(F8):c.412del (p.Ser138fs)
|
|
|
NM_000132.4(F8):c.4242dup (p.Phe1415fs)
|
rs1360639935
|
|
NM_000132.4(F8):c.4296_4300del (p.His1434fs)
|
rs387906453
|
|
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs)
|
rs387906454
|
|
NM_000132.4(F8):c.4379del (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.437_438del (p.Lys146fs)
|
rs2124141140
|
|
NM_000132.4(F8):c.43C>T (p.Arg15Ter)
|
rs387906432
|
|
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter)
|
rs2073177296
|
|
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer)
|
rs2124048199
|
|
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)
|
rs2124048012
|
|
NM_000132.4(F8):c.4825dup (p.Thr1609fs)
|
rs397514036
|
|
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer)
|
rs387906456
|
|
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter)
|
rs1603433733
|
|
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter)
|
rs137852438
|
|
NM_000132.4(F8):c.491G>T (p.Gly164Val)
|
rs137852392
|
|
NM_000132.4(F8):c.4936del (p.Ala1646fs)
|
rs1603433729
|
|
NM_000132.4(F8):c.494del (p.Pro165fs)
|
rs2124140985
|
|
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)
|
rs137852361
|
|
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)
|
rs137852439
|
|
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)
|
rs137852439
|
|
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs)
|
rs2124046974
|
|
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)
|
rs137852373
|
|
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys)
|
rs137852362
|
|
NM_000132.4(F8):c.5219+1G>A
|
rs1280131174
|
|
NM_000132.4(F8):c.5220-2A>G
|
rs2073039685
|
|
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
|
|
|
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)
|
rs782763245
|
|
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg)
|
rs137852440
|
|
NM_000132.4(F8):c.5323T>G (p.Leu1775Val)
|
rs28937287
|
|
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe)
|
rs137852441
|
|
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)
|
rs1168919288
|
|
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu)
|
rs28937289
|
|
NM_000132.4(F8):c.5372T>C (p.Met1791Thr)
|
rs137852375
|
|
NM_000132.4(F8):c.5374-224_5453delinsT
|
|
|
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs)
|
rs1342455699
|
|
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly)
|
rs137852443
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr)
|
rs137852444
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)
|
rs137852445
|
|
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter)
|
rs137852446
|
|
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)
|
rs2123997982
|
|
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)
|
rs387906457
|
|
NM_000132.4(F8):c.5483del (p.Pro1828fs)
|
rs2073030045
|
|
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
|
|
|
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter)
|
rs2123997870
|
|
NM_000132.4(F8):c.5526G>A (p.Met1842Ile)
|
rs28933674
|
|
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)
|
rs28933675
|
|
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)
|
rs28933676
|
|
NM_000132.4(F8):c.554A>C (p.Lys185Thr)
|
rs137852395
|
|
NM_000132.4(F8):c.5558C>T (p.Ala1853Val)
|
rs28933677
|
|
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
|
|
|
NM_000132.4(F8):c.5586G>A (p.Leu1862=)
|
rs2123997676
|
|
NM_000132.4(F8):c.5587-2A>G
|
rs2073027912
|
|
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)
|
rs28933678
|
|
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr)
|
rs28933678
|
|
NM_000132.4(F8):c.5600A>G (p.His1867Arg)
|
rs28933679
|
|
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg)
|
rs28933680
|
|
NM_000132.4(F8):c.5622dup (p.Leu1875fs)
|
rs387906458
|
|
NM_000132.4(F8):c.566C>T (p.Ser189Leu)
|
rs137852367
|
|
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)
|
rs137852448
|
|
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys)
|
rs28933681
|
|
NM_000132.4(F8):c.5719dup (p.Ser1907fs)
|
rs387906459
|
|
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)
|
rs137852369
|
|
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)
|
rs28933682
|
|
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
|
|
|
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)
|
rs2123996355
|
|
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)
|
rs137852363
|
|
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu)
|
rs28937294
|
|
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)
|
rs137852449
|
|
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
|
|
|
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp)
|
rs111033615
|
|
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs)
|
rs1216878586
|
|
NM_000132.4(F8):c.592T>G (p.Cys198Gly)
|
rs137852475
|
|
NM_000132.4(F8):c.5936G>T (p.Gly1979Val)
|
rs137852450
|
|
NM_000132.4(F8):c.5938C>T (p.His1980Tyr)
|
rs137852451
|
|
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)
|
rs137852452
|
|
NM_000132.4(F8):c.5961del (p.Glu1988fs)
|
rs387906460
|
|
NM_000132.4(F8):c.5999-2A>C
|
rs2123994187
|
|
NM_000132.4(F8):c.5999G>T (p.Gly2000Val)
|
rs1603432913
|
|
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter)
|
rs267606791
|
|
NM_000132.4(F8):c.602-2A>G
|
rs2124134457
|
|
NM_000132.4(F8):c.6020del (p.Met2007fs)
|
rs2123994155
|
|
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)
|
rs137852453
|
|
NM_000132.4(F8):c.6049del (p.Val2017fs)
|
rs387906461
|
|
NM_000132.4(F8):c.6104T>C (p.Val2035Ala)
|
rs1603432906
|
|
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser)
|
rs137852454
|
|
NM_000132.4(F8):c.6115+2T>C
|
|
|
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg)
|
rs137852455
|
|
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe)
|
rs137852456
|
|
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly)
|
rs137852457
|
|
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser)
|
rs1267586059
|
|
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter)
|
rs2072977865
|
|
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu)
|
rs137852458
|
|
NM_000132.4(F8):c.639_651dup (p.Phe218fs)
|
rs2124134352
|
|
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)
|
rs137852356
|
|
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro)
|
rs137852366
|
|
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs)
|
rs387906462
|
|
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr)
|
rs137852460
|
|
NM_000132.4(F8):c.6429+16424_6430-16424inv
|
|
|
NM_000132.4(F8):c.6429+2T>A
|
|
|
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs)
|
rs387906463
|
|
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)
|
rs137852357
|
|
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
|
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln)
|
rs137852462
|
|
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)
|
rs137852463
|
|
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)
|
rs137852464
|
|
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)
|
rs137852465
|
|
NM_000132.4(F8):c.6545G>A (p.Arg2182His)
|
rs137852466
|
|
NM_000132.4(F8):c.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser)
|
rs137852365
|
|
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro)
|
rs137852468
|
|
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe)
|
rs1603431511
|
|
NM_000132.4(F8):c.665A>T (p.Asp222Val)
|
rs137852396
|
|
NM_000132.4(F8):c.6670_6672del (p.Pro2224del)
|
rs1229477261
|
|
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)
|
rs1342196860
|
|
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly)
|
rs137852355
|
|
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)
|
rs137852355
|
|
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)
|
rs137852358
|
|
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu)
|
rs137852358
|
|
NM_000132.4(F8):c.6699del (p.Arg2234fs)
|
rs387906464
|
|
NM_000132.4(F8):c.670G>T (p.Gly224Trp)
|
rs137852397
|
|
NM_000132.4(F8):c.671-1G>A
|
rs1255271151
|
|
NM_000132.4(F8):c.671-2A>G
|
rs2124131475
|
|
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter)
|
rs1377166595
|
|
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)
|
rs137852469
|
|
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)
|
rs137852470
|
|
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs)
|
rs387906465
|
|
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
|
|
|
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter)
|
rs137852471
|
|
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)
|
rs2072681848
|
|
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
|
|
|
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs)
|
rs1356674990
|
|
NM_000132.4(F8):c.688_689del (p.Glu230fs)
|
rs387906436
|
|
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs)
|
rs387906466
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
NM_000132.4(F8):c.6968G>A (p.Arg2323His)
|
rs137852474
|
|
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)
|
rs137852354
|
|
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)
|
rs137852360
|
|
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)
|
rs2072484506
|
|
NM_000132.4(F8):c.755_756del (p.Thr252fs)
|
|
|
NM_000132.4(F8):c.760A>G (p.Asn254Asp)
|
rs2124131338
|
|
NM_000132.4(F8):c.77T>G (p.Leu26Arg)
|
rs137852377
|
|
NM_000132.4(F8):c.787+3A>G
|
rs2073548872
|
|
NM_000132.4(F8):c.788-1G>C
|
rs2073445259
|
|
NM_000132.4(F8):c.797G>A (p.Gly266Glu)
|
rs137852398
|
|
NM_000132.4(F8):c.822G>A (p.Trp274Ter)
|
rs34371500
|
|
NM_000132.4(F8):c.832G>A (p.Gly278Arg)
|
rs137852399
|
|
NM_000132.4(F8):c.849del (p.Glu284fs)
|
rs387906437
|
|
NM_000132.4(F8):c.854T>G (p.Val285Gly)
|
rs137852400
|
|
NM_000132.4(F8):c.872A>G (p.Glu291Gly)
|
rs137852359
|
|
NM_000132.4(F8):c.881C>T (p.Thr294Ile)
|
rs137852401
|
|
NM_000132.4(F8):c.896A>T (p.Asn299Ile)
|
rs137852402
|
|
NM_000132.4(F8):c.89A>T (p.Glu30Val)
|
rs137852378
|
|
NM_000132.4(F8):c.902G>A (p.Arg301His)
|
rs137852403
|
|
NM_000132.4(F8):c.902G>T (p.Arg301Leu)
|
rs137852403
|
|
NM_000132.4(F8):c.907del (p.Ala303fs)
|
rs387906438
|
|
NM_000132.4(F8):c.923C>T (p.Ser308Leu)
|
rs137852404
|
|
NM_000132.4(F8):c.935T>C (p.Phe312Ser)
|
rs137852405
|
|
NM_000132.4(F8):c.943del (p.Ala315fs)
|
rs387906439
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
NM_000132.4(F8):c.980T>C (p.Leu327Pro)
|
rs137852407
|
|
NM_000132.4(F8):c.985T>C (p.Cys329Arg)
|
rs387906430
|
|
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)
|
rs137852409
|
|
NM_000132.4:c.3065_3066insL13054_3065dup
|
|
|
NM_000132.4:c.6430_6723del
|
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.1009G>A (p.Ala337Thr)
|
rs137852253
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
NM_000133.4(F9):c.407T>C (p.Ile136Thr)
|
rs1603265481
|
|
NM_000133.4(F9):c.521-35_723+84del
|
rs1603265760
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
NM_000133.4(F9):c.88G>C (p.Val30Leu)
|
rs1603263395
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup)
|
rs1555937071
|
|
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)
|
rs483352926
|
|
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819
|
|
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
|
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972
|
|
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823
|
|
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)
|
rs587777877
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
|
rs2092543877
|
|
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
|
rs1602349143
|
|
NM_000166.6(GJB1):c.304_306del (p.Glu102del)
|
rs1555937135
|
|
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)
|
rs104894820
|
|
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)
|
rs1569215263
|
|
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)
|
rs2147946047
|
|
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)
|
rs104894813
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)
|
rs1602349420
|
|
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
rs1602348610
|
|
NM_000166.6(GJB1):c.48T>C (p.His16=)
|
|
|
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)
|
rs1602349468
|
|
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
rs1602349535
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
rs1602349628
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.57C>T (p.Ala19=)
|
|
|
NM_000166.6(GJB1):c.580A>G (p.Met194Val)
|
rs587777878
|
|
NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)
|
|
|
NM_000166.6(GJB1):c.590C>T (p.Ala197Val)
|
rs1569215418
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876
|
|
NM_000166.6(GJB1):c.783_784del (p.Ile262fs)
|
rs1602349955
|
|
NM_000166.6(GJB1):c.88A>T (p.Ile30Phe)
|
|
|
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)
|
rs104894817
|
|
NM_000166.6(GJB1):c.90C>G (p.Ile30Met)
|
|
|
NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)
|
|
|
NM_000240.4(MAOA):c.1214del (p.Gly405fs)
|
rs2147107556
|
|
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp)
|
rs796065312
|
|
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs)
|
rs796065311
|
|
NM_000240.4(MAOA):c.797G>T (p.Cys266Phe)
|
rs587777457
|
|
NM_000240.4(MAOA):c.886C>T (p.Gln296Ter)
|
rs72554632
|
|
NM_000252.2(MTM1):c.-76_-11del
|
|
|
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)
|
rs797045711
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)
|
rs797045709
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
NM_000252.3(MTM1):c.1053+1G>A
|
rs587783751
|
|
NM_000252.3(MTM1):c.1053+1G>C
|
rs587783751
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1089dup (p.Val364fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1116del (p.Val373fs)
|
|
|
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)
|
rs587783754
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)
|
rs587783756
|
|
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)
|
rs587783757
|
|
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)
|
rs587783758
|
|
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)
|
rs587783759
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)
|
rs1557414513
|
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)
|
rs587783761
|
|
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)
|
rs587783762
|
|
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)
|
rs587783763
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
NM_000252.3(MTM1):c.1260+15C>G
|
|
|
NM_000252.3(MTM1):c.1260+1G>A
|
rs587783768
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1261-1G>C
|
rs587783770
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)
|
rs587783773
|
|
NM_000252.3(MTM1):c.1283del (p.Asn428fs)
|
rs797045712
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
NM_000252.3(MTM1):c.1307del (p.Pro436fs)
|
rs587783775
|
|
NM_000252.3(MTM1):c.130dup (p.Ile44fs)
|
rs797045714
|
|
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)
|
rs587783778
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
NM_000252.3(MTM1):c.1353+1G>A
|
rs587783779
|
|
NM_000252.3(MTM1):c.1353+2T>C
|
rs587783780
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
NM_000252.3(MTM1):c.1354-1G>A
|
rs587783782
|
|
NM_000252.3(MTM1):c.136+1G>T
|
rs1603124201
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)
|
rs587783785
|
|
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)
|
rs587783786
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
NM_000252.3(MTM1):c.139_141del (p.Lys47del)
|
rs587783788
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)
|
rs587783793
|
|
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)
|
rs587783794
|
|
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
|
|
|
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
|
rs2148511944
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)
|
rs2148511970
|
|
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)
|
rs587783796
|
|
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)
|
rs587783796
|
|
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)
|
rs587783797
|
|
NM_000252.3(MTM1):c.1467+1G>A
|
rs587783798
|
|
NM_000252.3(MTM1):c.1467+1G>T
|
rs587783798
|
|
NM_000252.3(MTM1):c.1467+2T>A
|
rs587783799
|
|
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)
|
rs587783801
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
|
|
|
NM_000252.3(MTM1):c.1509del (p.Asn503fs)
|
rs587783802
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)
|
rs587783803
|
|
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
|
rs868972342
|
|
NM_000252.3(MTM1):c.154del (p.Ile52fs)
|
rs587783804
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
NM_000252.3(MTM1):c.1644+1G>A
|
rs398123272
|
|
NM_000252.3(MTM1):c.1792del (p.His598fs)
|
rs34119065
|
|
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)
|
rs132630304
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)
|
rs587783809
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
NM_000252.3(MTM1):c.231+1G>A
|
rs587783810
|
|
NM_000252.3(MTM1):c.231+2T>G
|
rs587783811
|
|
NM_000252.3(MTM1):c.232-1G>A
|
rs587783812
|
|
NM_000252.3(MTM1):c.232-2A>C
|
rs587783813
|
|
NM_000252.3(MTM1):c.232-3C>A
|
rs587783814
|
|
NM_000252.3(MTM1):c.252del (p.Asp84fs)
|
rs587783815
|
|
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)
|
rs587783816
|
|
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
|
|
|
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
|
|
|
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)
|
rs587783817
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
|
rs2148456062
|
|
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)
|
rs147644722
|
|
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)
|
rs587783819
|
|
NM_000252.3(MTM1):c.342+1G>A
|
rs1557413092
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.343-2A>G
|
rs587783821
|
|
NM_000252.3(MTM1):c.397_398del (p.Met133fs)
|
rs587783822
|
|
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)
|
rs587783823
|
|
NM_000252.3(MTM1):c.402del (p.Phe134fs)
|
rs587783824
|
|
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)
|
rs797045718
|
|
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)
|
rs587783825
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
NM_000252.3(MTM1):c.465del (p.Asn155fs)
|
rs1557413783
|
|
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)
|
rs132630307
|
|
NM_000252.3(MTM1):c.469del (p.Glu157fs)
|
rs587783827
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
NM_000252.3(MTM1):c.490_493del (p.Trp164fs)
|
rs1603184989
|
|
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)
|
rs587783828
|
|
NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
|
NM_000252.3(MTM1):c.528+1G>A
|
|
|
NM_000252.3(MTM1):c.528+1G>T
|
rs587783830
|
|
NM_000252.3(MTM1):c.529-2A>G
|
rs587783831
|
|
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)
|
rs587783832
|
|
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)
|
rs587783833
|
|
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
|
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)
|
rs587783834
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)
|
rs587783835
|
|
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)
|
rs587783836
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)
|
rs2148488506
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)
|
rs1569565497
|
|
NM_000252.3(MTM1):c.605del (p.Leu202fs)
|
rs672601325
|
|
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)
|
rs587783840
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
NM_000252.3(MTM1):c.63+1G>A
|
rs587783843
|
|
NM_000252.3(MTM1):c.63+1G>T
|
rs587783843
|
|
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)
|
rs587783845
|
|
NM_000252.3(MTM1):c.64-1G>A
|
rs587783846
|
|
NM_000252.3(MTM1):c.64-2A>G
|
rs1603123976
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
|
rs587783848
|
|
NM_000252.3(MTM1):c.678+1G>A
|
rs587783849
|
|
NM_000252.3(MTM1):c.679-1G>A
|
rs672601324
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)
|
rs587783851
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
|
rs2039919698
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)
|
rs587783855
|
|
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
|
|
|
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)
|
rs587783856
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)
|
rs797045720
|
|
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
|
rs2148493304
|
|
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)
|
rs587783857
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
NM_000252.3(MTM1):c.867+2T>A
|
|
|
NM_000252.3(MTM1):c.867_867+1dup
|
rs797045721
|
|
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)
|
rs587783859
|
|
NM_000252.3(MTM1):c.912del (p.Glu305fs)
|
rs587783860
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)
|
rs587783863
|
|
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)
|
rs587783864
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)
|
rs797045724
|
|
NM_000266.4(NDP):c.328T>G (p.Cys110Gly)
|
rs104894876
|
|
NM_000266.4(NDP):c.361C>T (p.Arg121Trp)
|
rs104894878
|
|
NM_000266.4(NDP):c.362G>T (p.Arg121Leu)
|
rs137852220
|
|
NM_000266.4(NDP):c.370C>T (p.Leu124Phe)
|
rs28933684
|
|
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)
|
rs62635018
|
|
NM_000273.3(GPR143):c.12_36del (p.Leu6fs)
|
rs1057518787
|
|
NM_000273.3(GPR143):c.216_232del (p.Ala73fs)
|
rs62645741
|
|
NM_000273.3(GPR143):c.360+2T>C
|
rs2146700764
|
|
NM_000273.3(GPR143):c.361-2A>C
|
rs2146699664
|
|
NM_000273.3(GPR143):c.36del (p.Thr13fs)
|
|
|
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)
|
rs58933950
|
|
NM_000273.3(GPR143):c.548+2T>A
|
rs2083438278
|
|
NM_000273.3(GPR143):c.548+2T>C
|
rs2083438278
|
|
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)
|
rs137852297
|
|
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter)
|
rs2146705998
|
|
NM_000273.3(GPR143):c.756_767+2del
|
rs281865183
|
|
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
|
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)
|
rs121918582
|
|
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)
|
rs2147807115
|
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)
|
rs398122517
|
|
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)
|
rs1454033665
|
|
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)
|
rs878853242
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
|
|
|
NM_000307.5(POU3F4):c.340dup (p.Trp114fs)
|
rs2147996471
|
|
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)
|
rs104894920
|
|
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)
|
rs876657719
|
|
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
|
|
|
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)
|
rs2147996672
|
|
NM_000307.5(POU3F4):c.648del (p.Leu217fs)
|
rs1555984570
|
|
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)
|
rs2147996200
|
|
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)
|
rs1199790524
|
|
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)
|
rs397516336
|
|
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)
|
rs730882189
|
|
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)
|
rs780027419
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
|
|
|
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)
|
rs387906502
|
|
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)
|
rs104894921
|
|
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)
|
rs398122516
|
|
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)
|
rs104894924
|
|
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)
|
rs1569280385
|
|
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
|
|
|
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)
|
rs104894923
|
|
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
|
|
|
NM_000330.4(RS1):c.160_163dup (p.Thr55fs)
|
rs281865342
|
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)
|
rs1927824776
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.287G>A (p.Trp96Ter)
|
rs2147193970
|
|
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)
|
rs199469696
|
|
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)
|
rs61752147
|
|
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
|
|
|
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)
|
rs104894935
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)
|
rs2147191205
|
|
NM_000330.4(RS1):c.53-1G>A
|
rs1928241490
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.667T>C (p.Cys223Arg)
|
rs104894929
|
|
NM_000351.4:g.(?_6551155)_(8032120_?)del
|
|
|
NM_000377.3(WAS):c.-37_132+35del
|
rs1602176146
|
|
NM_000377.3(WAS):c.1001del (p.Gly334fs)
|
rs1569494025
|
|
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer)
|
rs1569494025
|
|
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)
|
rs132630271
|
|
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs)
|
rs2147266379
|
|
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
|
|
|
NM_000377.3(WAS):c.1058del (p.Pro353fs)
|
rs1557007165
|
|
NM_000377.3(WAS):c.1058dup (p.Pro354fs)
|
rs1557007165
|
|
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
|
|
|
NM_000377.3(WAS):c.1085del (p.Pro362fs)
|
rs2147266474
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
NM_000377.3(WAS):c.1097del (p.Gly366fs)
|
rs587776744
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
NM_000377.3(WAS):c.11del (p.Gly4fs)
|
rs587776745
|
|
NM_000377.3(WAS):c.1203del (p.Pro402fs)
|
|
|
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)
|
rs11545907
|
|
NM_000377.3(WAS):c.1221del (p.Asn408fs)
|
|
|
NM_000377.3(WAS):c.1266del (p.Gly424fs)
|
|
|
NM_000377.3(WAS):c.1271del (p.Gly424fs)
|
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
NM_000377.3(WAS):c.1315_1453+204del
|
rs1602179794
|
|
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
|
|
|
NM_000377.3(WAS):c.1337_1338+9del
|
rs1602179810
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)
|
rs2062432605
|
|
NM_000377.3(WAS):c.1405dup (p.Ala469fs)
|
rs2062432653
|
|
NM_000377.3(WAS):c.1453+2T>G
|
rs2147267350
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)
|
rs2062412365
|
|
NM_000377.3(WAS):c.176del (p.Pro59fs)
|
rs2147262809
|
|
NM_000377.3(WAS):c.177del (p.Gly60fs)
|
rs2147262829
|
|
NM_000377.3(WAS):c.190T>C (p.Trp64Arg)
|
rs2147262851
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
|
|
|
NM_000377.3(WAS):c.1A>T (p.Met1Leu)
|
rs587776742
|
|
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)
|
rs2062412730
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)
|
rs132630268
|
|
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
|
|
|
NM_000377.3(WAS):c.271C>T (p.Gln91Ter)
|
rs1557006354
|
|
NM_000377.3(WAS):c.295del (p.Gln99fs)
|
|
|
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
|
|
|
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs)
|
rs2062416187
|
|
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
|
rs2062416272
|
|
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
|
|
|
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)
|
rs1602177243
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
NM_000377.3(WAS):c.360+1G>C
|
rs1057520700
|
|
NM_000377.3(WAS):c.361-1G>C
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)
|
rs2147263906
|
|
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
|
|
|
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3])
|
rs587776743
|
|
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
|
|
|
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
|
|
|
NM_000377.3(WAS):c.412dup (p.Arg138fs)
|
|
|
NM_000377.3(WAS):c.436del (p.Gln146fs)
|
rs2062417558
|
|
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
|
|
|
NM_000377.3(WAS):c.466del (p.Arg156fs)
|
|
|
NM_000377.3(WAS):c.470_471del (p.Arg157fs)
|
rs1602177562
|
|
NM_000377.3(WAS):c.539dup (p.His180fs)
|
rs2147264299
|
|
NM_000377.3(WAS):c.559+2T>G
|
rs1602177733
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
NM_000377.3(WAS):c.560-1G>A
|
rs1602178087
|
|
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
|
|
|
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
|
|
|
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)
|
rs1602178165
|
|
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)
|
rs1602178184
|
|
NM_000377.3(WAS):c.692del (p.Lys231fs)
|
rs2062422078
|
|
NM_000377.3(WAS):c.701del (p.Ser234fs)
|
|
|
NM_000377.3(WAS):c.723del (p.Ser242fs)
|
rs2147264981
|
|
NM_000377.3(WAS):c.724del (p.Ser242fs)
|
rs2147264989
|
|
NM_000377.3(WAS):c.734+1G>C
|
|
|
NM_000377.3(WAS):c.734+2T>A
|
rs1569493877
|
|
NM_000377.3(WAS):c.734+5G>A
|
rs1602178267
|
|
NM_000377.3(WAS):c.735-2A>G
|
rs1602178800
|
|
NM_000377.3(WAS):c.735-2A>T
|
|
|
NM_000377.3(WAS):c.73_74del (p.Thr25fs)
|
rs1602176299
|
|
NM_000377.3(WAS):c.753dup (p.Trp252fs)
|
rs2147265693
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
NM_000377.3(WAS):c.778-6G>A
|
rs1557007011
|
|
NM_000377.3(WAS):c.802del (p.Arg268fs)
|
rs2147265894
|
|
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)
|
rs1602178952
|
|
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)
|
rs132630274
|
|
NM_000377.3(WAS):c.814T>C (p.Ser272Pro)
|
rs387906716
|
|
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs)
|
rs2147265917
|
|
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
|
|
|
NM_000377.3(WAS):c.858del (p.Ser287fs)
|
rs1602179000
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)
|
rs1557006239
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
|
|
|
NM_000377.3(WAS):c.969del (p.Asn324fs)
|
|
|
NM_000377.3(WAS):c.990del (p.Ile331fs)
|
rs2147266326
|
|
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del)
|
rs1569270035
|
|
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)
|
rs1556004366
|
|
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)
|
rs1569268029
|
|
NM_000381.4(MID1):c.1558dup (p.Glu520fs)
|
rs1569268013
|
|
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
|
|
|
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter)
|
rs1556003095
|
|
NM_000381.4(MID1):c.1663A>G (p.Ile555Val)
|
rs398123341
|
|
NM_000381.4(MID1):c.1798dup (p.His600fs)
|
rs398123342
|
|
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro)
|
rs28934611
|
|
NM_000381.4(MID1):c.1917del (p.Thr640fs)
|
rs1569265497
|
|
NM_000381.4(MID1):c.343G>T (p.Glu115Ter)
|
rs104894865
|
|
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer)
|
rs2147369813
|
|
NM_000381.4(MID1):c.712G>T (p.Glu238Ter)
|
rs387906719
|
|
NM_000381.4(MID1):c.757-1G>C
|
rs1555895725
|
|
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)
|
rs1555895704
|
|
NM_000381.4(MID1):c.884T>C (p.Leu295Pro)
|
rs104894866
|
|
NM_000390.2:c.315_702del
|
|
|
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)
|
rs1603262410
|
|
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)
|
rs2147663153
|
|
NM_000390.4(CHM):c.1166+1G>C
|
rs2147662906
|
|
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)
|
rs1603244690
|
|
NM_000390.4(CHM):c.1350-1G>A
|
rs2148153587
|
|
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)
|
rs132630263
|
|
NM_000390.4(CHM):c.1359C>T (p.Ser453=)
|
rs2148153518
|
|
NM_000390.4(CHM):c.1413+1G>T
|
rs1926202120
|
|
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)
|
rs132630265
|
|
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)
|
rs132630264
|
|
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)
|
rs132630267
|
|
NM_000390.4(CHM):c.1520A>G (p.His507Arg)
|
rs397514603
|
|
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)
|
rs1603236385
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)
|
rs1924193863
|
|
NM_000390.4(CHM):c.1680del (p.Ser561fs)
|
rs1556207100
|
|
NM_000390.4(CHM):c.187C>T (p.Gln63Ter)
|
rs1931625420
|
|
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
|
rs1603288832
|
|
NM_000390.4(CHM):c.232C>T (p.Gln78Ter)
|
rs2147706580
|
|
NM_000390.4(CHM):c.280del (p.Thr94fs)
|
rs1555958073
|
|
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
|
|
|
NM_000390.4(CHM):c.29_30del (p.Asp10fs)
|
rs1603288815
|
|
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)
|
rs2147676302
|
|
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs)
|
rs1930439753
|
|
NM_000390.4(CHM):c.419del (p.Pro140fs)
|
rs1930438584
|
|
NM_000390.4(CHM):c.437T>G (p.Leu146Ter)
|
rs2147676177
|
|
NM_000390.4(CHM):c.469C>T (p.Gln157Ter)
|
rs1930431885
|
|
NM_000390.4(CHM):c.498_499dup (p.Leu167fs)
|
rs1930428430
|
|
NM_000390.4(CHM):c.525_526del (p.Glu177fs)
|
rs886041177
|
|
NM_000390.4(CHM):c.564_565del (p.Pro189fs)
|
rs1603264449
|
|
NM_000390.4(CHM):c.652_655del (p.Ser218fs)
|
rs1930413413
|
|
NM_000390.4(CHM):c.660del (p.Ile221fs)
|
rs1603264410
|
|
NM_000390.4(CHM):c.703-2A>G
|
rs2147667674
|
|
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
|
rs776256380
|
|
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
|
|
|
NM_000390.4(CHM):c.799C>T (p.Arg267Ter)
|
rs886041179
|
|
NM_000390.4(CHM):c.808C>T (p.Arg270Ter)
|
rs527236048
|
|
NM_000390.4(CHM):c.819+1G>C
|
rs1603263147
|
|
NM_000390.4(CHM):c.820-2A>G
|
rs1556307713
|
|
NM_000390.4(CHM):c.846dup (p.Asn283Ter)
|
rs2147665855
|
|
NM_000390.4(CHM):c.856C>T (p.Gln286Ter)
|
rs2147665799
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000390.4(CHM):c.941-1G>A
|
|
|
NM_000390.4(CHM):c.961del (p.Tyr321fs)
|
rs2147663454
|
|
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
|
|
|
NM_000444.4(PHEX):c.[755T>C;759G>A]
|
|
|
NM_000444.6(PHEX):c.101del (p.Gly34fs)
|
rs1602241023
|
|
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)
|
rs1556026027
|
|
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)
|
rs773436322
|
|
NM_000444.6(PHEX):c.1044del (p.Asp349fs)
|
rs1556026042
|
|
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)
|
rs2147047501
|
|
NM_000444.6(PHEX):c.1080-1G>A
|
rs886041695
|
|
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)
|
rs1556029499
|
|
NM_000444.6(PHEX):c.1134del (p.Ser379fs)
|
rs1556029516
|
|
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp)
|
rs1556029519
|
|
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
|
rs1602304005
|
|
NM_000444.6(PHEX):c.1173+1G>A
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1174-1G>A
|
rs2147065556
|
|
NM_000444.6(PHEX):c.118+1G>A
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.119-1G>A
|
rs2146979490
|
|
NM_000444.6(PHEX):c.119-1G>C
|
rs2146979490
|
|
NM_000444.6(PHEX):c.119-3C>G
|
rs1556012055
|
|
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
|
rs1602307078
|
|
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
|
rs1602307094
|
|
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)
|
rs1556030465
|
|
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
|
rs1602307107
|
|
NM_000444.6(PHEX):c.1266del (p.Phe422fs)
|
rs2147065739
|
|
NM_000444.6(PHEX):c.1269del (p.Asp424fs)
|
rs1556030487
|
|
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)
|
rs1556030502
|
|
NM_000444.6(PHEX):c.1302+2T>A
|
rs2147065825
|
|
NM_000444.6(PHEX):c.1303-1G>C
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-2A>G
|
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1313del (p.Leu438fs)
|
rs1932102521
|
|
NM_000444.6(PHEX):c.1324del (p.Val442fs)
|
rs1602324484
|
|
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)
|
rs2147086366
|
|
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)
|
rs2147086395
|
|
NM_000444.6(PHEX):c.135_136del (p.Leu47fs)
|
rs1602244774
|
|
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)
|
rs886041359
|
|
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)
|
rs2147086514
|
|
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1404+1G>C
|
rs2147086611
|
|
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)
|
rs754449807
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1425del (p.Val476fs)
|
rs1602354302
|
|
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)
|
rs202074612
|
|
NM_000444.6(PHEX):c.142dup (p.Gln48fs)
|
rs2146979520
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1482+5G>C
|
rs1269067103
|
|
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)
|
rs2147118855
|
|
NM_000444.6(PHEX):c.1483-2A>G
|
rs1556070724
|
|
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
|
rs1602363343
|
|
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)
|
rs2147128134
|
|
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)
|
rs1556070890
|
|
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)
|
rs886041361
|
|
NM_000444.6(PHEX):c.1560del (p.Trp520fs)
|
rs1556071086
|
|
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)
|
rs1556071123
|
|
NM_000444.6(PHEX):c.1572dup (p.Val525fs)
|
rs1556071138
|
|
NM_000444.6(PHEX):c.1586+1G>A
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+2T>G
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000444.6(PHEX):c.1586_1586+1del
|
rs886041362
|
|
NM_000444.6(PHEX):c.1587-1G>A
|
rs886041839
|
|
NM_000444.6(PHEX):c.1587-2145_1645+3342del
|
|
|
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)
|
rs1556091855
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000444.6(PHEX):c.1646-2A>C
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646-2A>G
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)
|
rs1602395717
|
|
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)
|
rs1556128043
|
|
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)
|
rs137853270
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1700+2T>C
|
rs1556128253
|
|
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
|
|
|
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)
|
rs1556135242
|
|
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1718del (p.Ala573fs)
|
rs2147171155
|
|
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)
|
rs1602402229
|
|
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)
|
rs1556135467
|
|
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)
|
rs1556135477
|
|
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)
|
rs772130004
|
|
NM_000444.6(PHEX):c.1768+1G>A
|
rs886041296
|
|
NM_000444.6(PHEX):c.1768+5G>A
|
rs1057524608
|
|
NM_000444.6(PHEX):c.1769-1G>A
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>C
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>T
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)
|
rs1556138407
|
|
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)
|
rs1935269189
|
|
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)
|
rs886041364
|
|
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
|
|
|
NM_000444.6(PHEX):c.1809dup (p.Ser604fs)
|
rs1602405176
|
|
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)
|
rs770630990
|
|
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
|
rs1602405239
|
|
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)
|
rs1556138590
|
|
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)
|
rs2147174526
|
|
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)
|
rs886041367
|
|
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)
|
rs2147174569
|
|
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
|
rs1602244836
|
|
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
|
|
|
NM_000444.6(PHEX):c.187+1G>T
|
rs1556012100
|
|
NM_000444.6(PHEX):c.187+1del
|
rs1556012094
|
|
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
|
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)
|
rs1556138742
|
|
NM_000444.6(PHEX):c.1899+1G>A
|
rs1556138769
|
|
NM_000444.6(PHEX):c.1899+2113_1957del
|
|
|
NM_000444.6(PHEX):c.1899+2T>G
|
rs1602405375
|
|
NM_000444.6(PHEX):c.1910dup (p.Arg638fs)
|
rs1556148392
|
|
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
|
|
|
NM_000444.6(PHEX):c.1936G>C (p.Asp646His)
|
rs1556148532
|
|
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)
|
rs748792378
|
|
NM_000444.6(PHEX):c.1965+1G>A
|
rs1240767654
|
|
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)
|
rs1556151071
|
|
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
|
|
|
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)
|
rs886041369
|
|
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
|
rs1556151137
|
|
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)
|
rs2146987638
|
|
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)
|
rs1556151545
|
|
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
|
rs886041372
|
|
NM_000444.6(PHEX):c.2071-1G>A
|
rs886041374
|
|
NM_000444.6(PHEX):c.2071-1G>C
|
rs886041374
|
|
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)
|
rs1556200989
|
|
NM_000444.6(PHEX):c.208_212del (p.Val70fs)
|
rs1927568587
|
|
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)
|
rs2147213985
|
|
NM_000444.6(PHEX):c.2093del (p.Pro698fs)
|
rs1556201034
|
|
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)
|
rs1602240926
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.2125del (p.Ala709fs)
|
rs1602439597
|
|
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)
|
rs2147214114
|
|
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)
|
rs1602439611
|
|
NM_000444.6(PHEX):c.2139del (p.Gln714fs)
|
rs2147214136
|
|
NM_000444.6(PHEX):c.2147+2T>G
|
rs1602439662
|
|
NM_000444.6(PHEX):c.2147+3A>T
|
rs1556201217
|
|
NM_000444.6(PHEX):c.2148-2A>G
|
rs1556205815
|
|
NM_000444.6(PHEX):c.2193del (p.Phe731fs)
|
rs886041631
|
|
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)
|
rs1556206093
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)
|
rs1556206335
|
|
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)
|
rs1556206403
|
|
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)
|
rs1556014287
|
|
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr)
|
rs137853269
|
|
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)
|
rs137853269
|
|
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)
|
rs2146987874
|
|
NM_000444.6(PHEX):c.349+1G>A
|
rs193922459
|
|
NM_000444.6(PHEX):c.350-1G>A
|
rs2147019098
|
|
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
|
rs1602273769
|
|
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
|
rs2146974254
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)
|
rs1556020460
|
|
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)
|
rs2147019252
|
|
NM_000444.6(PHEX):c.424del (p.Cys142fs)
|
rs1556020474
|
|
NM_000444.6(PHEX):c.436+4A>T
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+6T>C
|
rs1556020485
|
|
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)
|
rs1929202828
|
|
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)
|
rs1556020752
|
|
NM_000444.6(PHEX):c.468del (p.Leu157fs)
|
rs2147020412
|
|
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)
|
rs1556020770
|
|
NM_000444.6(PHEX):c.535del (p.Val179fs)
|
rs2147020604
|
|
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
|
rs1602274883
|
|
NM_000444.6(PHEX):c.546_549del (p.Arg183fs)
|
rs1556020798
|
|
NM_000444.6(PHEX):c.559del (p.Leu187fs)
|
rs1602274893
|
|
NM_000444.6(PHEX):c.582del (p.Arg195fs)
|
rs1602274929
|
|
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)
|
rs770573978
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
|
rs1602274950
|
|
NM_000444.6(PHEX):c.613del (p.Arg205fs)
|
rs1929214770
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)
|
rs1929219058
|
|
NM_000444.6(PHEX):c.663G>A (p.Lys221=)
|
rs1929220357
|
|
NM_000444.6(PHEX):c.664-1G>T
|
rs886041529
|
|
NM_000444.6(PHEX):c.673del (p.Ala225fs)
|
rs2147035468
|
|
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)
|
rs1556023495
|
|
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)
|
rs1064793956
|
|
NM_000444.6(PHEX):c.704del (p.Tyr235fs)
|
rs1556023503
|
|
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)
|
rs2147035526
|
|
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)
|
rs1556023505
|
|
NM_000444.6(PHEX):c.732+3_732+6del
|
rs2147035589
|
|
NM_000444.6(PHEX):c.732+5G>A
|
rs1556023528
|
|
NM_000444.6(PHEX):c.732+5G>C
|
rs1556023528
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000444.6(PHEX):c.78dup (p.Val27fs)
|
rs1556010757
|
|
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
|
rs1602240890
|
|
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter)
|
rs137853268
|
|
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)
|
rs1556024541
|
|
NM_000444.6(PHEX):c.849+1268G>T
|
rs919011936
|
|
NM_000444.6(PHEX):c.849_849+2del
|
rs1602288211
|
|
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
|
rs1602290398
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000444.6(PHEX):c.933+1G>T
|
rs1556025314
|
|
NM_000444.6(PHEX):c.933+2T>A
|
rs2147043777
|
|
NM_000444.6(PHEX):c.934-1G>T
|
rs1602292528
|
|
NM_000444.6(PHEX):c.934-2A>G
|
rs1930291143
|
|
NM_000444.6(PHEX):c.934-3_934-1delinsTCA
|
rs1556025936
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000444.6(PHEX):c.985del (p.His329fs)
|
rs1556025994
|
|
NM_000475.5(NR0B1):c.0_1168+260del
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter)
|
rs104894908
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)
|
rs104894886
|
|
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)
|
rs1555972957
|
|
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)
|
rs104894900
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)
|
rs104894896
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
NM_000475.5(NR0B1):c.1169-112_*17delinsTG
|
rs1555972632
|
|
NM_000475.5(NR0B1):c.1169-1G>A
|
rs1555972666
|
|
NM_000475.5(NR0B1):c.1169-1G>T
|
|
|
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter)
|
rs1569269179
|
|
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)
|
rs104894894
|
|
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)
|
rs104894906
|
|
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)
|
rs1555972655
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)
|
rs387907373
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)
|
rs104894897
|
|
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)
|
rs28935481
|
|
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)
|
rs1555972641
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)
|
rs1555972640
|
|
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
|
|
|
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs)
|
rs2147007424
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.215_218dup (p.His73fs)
|
rs1926599738
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
NM_000475.5(NR0B1):c.277del (p.Ala93fs)
|
rs1555973189
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)
|
rs132630327
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)
|
rs104894891
|
|
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)
|
rs1555973132
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.543del (p.Gly183fs)
|
rs1555973120
|
|
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)
|
rs1555973119
|
|
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)
|
rs1555973117
|
|
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)
|
rs104894898
|
|
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)
|
rs1555973091
|
|
NM_000475.5(NR0B1):c.652dup (p.Thr218fs)
|
rs1555973092
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)
|
rs104894889
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000475.5(NR0B1):c.754del (p.Gln252fs)
|
rs1555973063
|
|
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)
|
rs1311271225
|
|
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
|
|
|
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)
|
rs1555973058
|
|
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter)
|
rs104894887
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter)
|
rs104894895
|
|
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)
|
rs753734546
|
|
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
|
|
|
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)
|
rs1555973031
|
|
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
|
rs104894890
|
|
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])
|
rs1601792367
|
|
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)
|
rs1555973021
|
|
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)
|
rs1489209061
|
|
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)
|
rs28935482
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)
|
rs1555972994
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
|
|
|
NM_000489.6(ATRX):c.134-4884_242+41del
|
|
|
NM_000489.6(ATRX):c.158del (p.Asn53fs)
|
rs2148685852
|
|
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
|
|
|
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
|
rs2071372283
|
|
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)
|
rs2071372283
|
|
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)
|
rs1557140492
|
|
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
|
|
|
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
|
|
|
NM_000489.6(ATRX):c.2678dup (p.Thr894fs)
|
rs2148591494
|
|
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
|
|
|
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
|
|
|
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
|
|
|
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
|
|
|
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)
|
rs2070037318
|
|
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
|
rs2070034528
|
|
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)
|
rs1569535642
|
|
NM_000489.6(ATRX):c.4558-3T>G
|
rs1602996115
|
|
NM_000489.6(ATRX):c.477del (p.Lys159fs)
|
rs1603240572
|
|
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
|
rs122445093
|
|
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)
|
rs122445094
|
|
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)
|
rs1135401793
|
|
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn)
|
rs122445095
|
|
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr)
|
rs1557106482
|
|
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)
|
rs122445104
|
|
NM_000489.6(ATRX):c.5273-10T>A
|
rs2148261114
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
|
rs122445103
|
|
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)
|
rs122445096
|
|
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)
|
rs1060499658
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)
|
rs122445097
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
|
|
|
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)
|
rs122445101
|
|
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys)
|
rs122445098
|
|
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
|
rs1057517707
|
|
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)
|
rs1557041077
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)
|
rs122445100
|
|
NM_000489.6(ATRX):c.7205del (p.Ile2402fs)
|
rs1569513017
|
|
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
|
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)
|
rs1569539477
|
|
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)
|
rs2148637532
|
|
NM_000495.5(COL4A5):c.321+5G>A
|
rs2147746317
|
|
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)
|
rs267606927
|
|
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)
|
rs104894914
|
|
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)
|
rs104893790
|
|
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)
|
rs104893796
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)
|
rs104893789
|
|
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
|
|
|
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)
|
rs764476239
|
|
NM_000843.4(GRM6):c.722-1G>T
|
rs766594761
|
|
NM_000843.4(GRM6):c.727dup
|
rs281865186
|
|
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)
|
rs397514619
|
|
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn)
|
rs1569491884
|
|
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
|
|
|
NM_001004334.4(GPR179):c.1784+1G>A
|
rs773126191
|
|
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)
|
rs281875234
|
|
NM_001004334.4(GPR179):c.187del (p.Leu63fs)
|
rs794726686
|
|
NM_001004334.4(GPR179):c.278del (p.Pro93fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)
|
rs1567728372
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)
|
rs1131690786
|
|
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)
|
rs886041971
|
|
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
|
|
|
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)
|
rs2080114203
|
|
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)
|
rs1057518730
|
|
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)
|
rs886041701
|
|
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs)
|
rs2080113065
|
|
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs)
|
rs727503977
|
|
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)
|
rs1556016632
|
|
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs)
|
rs2080111520
|
|
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter)
|
rs2147440717
|
|
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs)
|
rs397518479
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs)
|
rs1556016555
|
|
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)
|
rs1556016529
|
|
NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)
|
|
|
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs)
|
rs2080105696
|
|
NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter)
|
rs2147440006
|
|
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)
|
rs797045646
|
|
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs)
|
rs1569336024
|
|
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter)
|
rs2080104580
|
|
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter)
|
rs2147439880
|
|
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)
|
rs1569335265
|
|
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs)
|
rs875989829
|
|
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter)
|
rs2080102486
|
|
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter)
|
rs2080118279
|
|
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter)
|
rs2080101717
|
|
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)
|
rs1602211123
|
|
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter)
|
rs1060499652
|
|
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
|
|
|
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs)
|
rs2147439375
|
|
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)
|
rs397518478
|
|
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)
|
rs1602210960
|
|
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter)
|
rs1181632862
|
|
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)
|
rs1556016224
|
|
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)
|
rs1057518728
|
|
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter)
|
rs1556016802
|
|
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)
|
rs758719615
|
|
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs)
|
rs2147441408
|
|
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)
|
rs2080115999
|
|
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)
|
rs878854425
|
|
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)
|
rs1556016731
|
|
NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)
|
|
|
NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs)
|
rs587776750
|
|
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)
|
rs587776749
|
|
NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu)
|
rs1602717698
|
|
NM_001011658.4(TRAPPC2):c.216_217del (p.Ser73fs)
|
rs2046290303
|
|
NM_001011658.4(TRAPPC2):c.225del (p.Phe75fs)
|
|
|
NM_001011658.4(TRAPPC2):c.238+4T>C
|
rs587776753
|
|
NM_001011658.4(TRAPPC2):c.239-10_239-7del
|
rs2146773091
|
|
NM_001011658.4(TRAPPC2):c.239-11_239-9del
|
rs587777330
|
|
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs)
|
rs1602708047
|
|
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)
|
rs104894948
|
|
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)
|
rs587776751
|
|
NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter)
|
rs104894949
|
|
NM_001011658.4(TRAPPC2):c.387del (p.Val130fs)
|
rs587776754
|
|
NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter)
|
rs122460156
|
|
NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs)
|
rs1602717625
|
|
NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer)
|
rs587776748
|
|
NM_001011658.4(TRAPPC2):c.91A>T (p.Lys31Ter)
|
|
|
NM_001011658.4(TRAPPC2):c.93+5G>A
|
rs587776752
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr)
|
rs132630299
|
|
NM_001015877.2(PHF6):c.139-8A>G
|
rs771399346
|
|
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter)
|
rs132630301
|
|
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)
|
rs1114167289
|
|
NM_001015877.2(PHF6):c.27dup (p.Gly10fs)
|
rs758791658
|
|
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe)
|
rs132630298
|
|
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)
|
rs1556013203
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
|
|
|
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
|
|
|
NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter)
|
rs770811341
|
|
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)
|
rs864309532
|
|
NM_001015877.2(PHF6):c.585+1G>A
|
rs2077460481
|
|
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)
|
rs1556018932
|
|
NM_001015877.2(PHF6):c.686A>G (p.His229Arg)
|
rs104894918
|
|
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu)
|
rs104894917
|
|
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)
|
|
|
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly)
|
rs104894919
|
|
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)
|
rs1556019107
|
|
NM_001015877.2(PHF6):c.829del (p.Arg277fs)
|
rs2077467552
|
|
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)
|
|
|
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe)
|
rs587777489
|
|
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs)
|
rs2147468376
|
|
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys)
|
rs121917899
|
|
NM_001032382.2(PQBP1):c.292+1G>A
|
rs2147472456
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
|
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)
|
rs1602330420
|
|
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs)
|
rs606231197
|
|
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)
|
rs2147475642
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs)
|
rs1602332039
|
|
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)
|
rs606231196
|
|
NM_001034853.2(RPGR):c.1379del (p.Leu460fs)
|
rs2147227522
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
NM_001034853.2(RPGR):c.2512del (p.Glu838fs)
|
rs2147197281
|
|
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
|
|
|
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
|
|
|
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)
|
rs137852551
|
|
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
|
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
|
|
|
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
|
|
|
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
|
|
|
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter)
|
rs869025592
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs)
|
rs2147080766
|
|
NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter)
|
rs2062675453
|
|
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
|
|
|
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter)
|
rs869025588
|
|
NM_001039591.3(USP9X):c.260del (p.Pro87fs)
|
rs1601957478
|
|
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs)
|
rs869025590
|
|
NM_001039591.3(USP9X):c.3028-2A>G
|
rs869025589
|
|
NM_001039591.3(USP9X):c.323-1G>A
|
|
|
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter)
|
rs869025591
|
|
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
|
|
|
NM_001039591.3(USP9X):c.44del (p.Asn15fs)
|
rs1555917927
|
|
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs)
|
rs1555930128
|
|
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter)
|
rs2062209732
|
|
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter)
|
rs2063213305
|
|
NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His)
|
rs587777317
|
|
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs)
|
rs2063238551
|
|
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
|
|
|
NM_001039591.3(USP9X):c.6679_6685delinsTCCTG (p.Lys2227_Tyr2229delinsSerTer)
|
rs2147262405
|
|
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs)
|
rs2147266578
|
|
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)
|
|
|
NM_001039591.3(USP9X):c.7526del (p.Gln2509fs)
|
rs587777318
|
|
NM_001042750.2(STAG2):c.1412_1416+9del
|
rs2148280047
|
|
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter)
|
rs1569507848
|
|
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)
|
rs1317614761
|
|
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)
|
rs2057753419
|
|
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
|
|
|
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)
|
rs121434616
|
|
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)
|
rs1602577238
|
|
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)
|
rs1556206910
|
|
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)
|
rs121434615
|
|
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)
|
rs1057519396
|
|
NM_001079872.2(CUL4B):c.1852+1G>T
|
rs797044862
|
|
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
|
|
|
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)
|
|
|
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
|
|
|
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)
|
rs1556220623
|
|
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met)
|
rs1379343211
|
|
NM_001079872.2(CUL4B):c.847-2A>G
|
rs786200913
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro)
|
rs797045018
|
|
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)
|
rs1556024875
|
|
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp)
|
rs1556023928
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr)
|
rs797045021
|
|
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro)
|
rs797045020
|
|
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe)
|
rs797045019
|
|
NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)
|
rs1277350671
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001082486.2(ACD):c.361del (p.Asp121fs)
|
rs1303559181
|
|
NM_001097642.3(GJB1):c.-16-511G>C
|
rs2147944334
|
|
NM_001097642.3(GJB1):c.-16-513T>G
|
rs1003232768
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
|
rs2067763458
|
|
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
|
|
|
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)
|
rs1557179325
|
|
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
|
rs2067761804
|
|
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)
|
rs2148118072
|
|
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
|
|
|
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs)
|
rs1603362871
|
|
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
|
rs2067760741
|
|
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
|
|
|
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
|
|
|
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
|
|
|
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)
|
rs1447594194
|
|
NM_001110556.2(FLNA):c.1829-1G>C
|
rs1603362402
|
|
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)
|
rs2148116288
|
|
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
|
rs267606815
|
|
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
|
rs2067741257
|
|
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
|
|
|
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp)
|
rs267606817
|
|
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs)
|
rs863223630
|
|
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)
|
rs2148115776
|
|
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
|
|
|
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
|
rs2067723474
|
|
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
|
rs1603361851
|
|
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)
|
rs28935169
|
|
NM_001110556.2(FLNA):c.2565+1G>A
|
rs786205186
|
|
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
|
|
|
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)
|
rs2148114051
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
|
rs2148113628
|
|
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)
|
rs2148113604
|
|
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
|
rs1557178045
|
|
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
|
rs1603361195
|
|
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
|
rs2148121859
|
|
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)
|
rs1557177738
|
|
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)
|
rs28935472
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)
|
rs1060500716
|
|
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
|
rs2067693064
|
|
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)
|
rs1557177663
|
|
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)
|
rs1557177636
|
|
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)
|
rs1557177623
|
|
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
|
rs2148111417
|
|
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)
|
rs2148111202
|
|
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)
|
rs186214592
|
|
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
|
rs1603360542
|
|
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
|
rs781789823
|
|
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)
|
rs1557177086
|
|
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
|
|
|
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
|
rs1557176615
|
|
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
|
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)
|
rs1569551502
|
|
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
|
rs1359141531
|
|
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
|
rs2148119354
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
|
rs1603359464
|
|
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)
|
rs1060500718
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)
|
rs2148104651
|
|
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
|
rs2148104615
|
|
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
|
|
|
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
|
|
|
NM_001110556.2(FLNA):c.656del (p.Ser219fs)
|
rs2148119182
|
|
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
|
rs2067626336
|
|
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)
|
rs786205178
|
|
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
|
rs2148103917
|
|
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)
|
rs1060500717
|
|
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)
|
rs1569551861
|
|
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
|
|
|
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)
|
rs2148103458
|
|
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)
|
rs2148103004
|
|
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
|
|
|
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)
|
rs782308324
|
|
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)
|
rs2148101228
|
|
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
|
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
|
rs2067602034
|
|
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
|
|
|
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)
|
rs1557175195
|
|
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
|
rs1603358246
|
|
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)
|
rs863223636
|
|
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
|
rs2148118964
|
|
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
|
rs2148118942
|
|
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)
|
rs267606816
|
|
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
|
|
|
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)
|
rs1557179357
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.112del (p.Leu38fs)
|
rs61754426
|
|
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)
|
rs1557135315
|
|
NM_001110792.2(MECP2):c.1147dup (p.His383fs)
|
rs1057519404
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs)
|
rs267608590
|
|
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)
|
rs1557134946
|
|
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
|
rs61753965
|
|
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
|
rs267608426
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)
|
rs2148770984
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.618dup (p.Gly207fs)
|
rs2148663602
|
|
NM_001110792.2(MECP2):c.642del (p.Thr215fs)
|
rs2148663473
|
|
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)
|
rs2148661952
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs)
|
rs2074443766
|
|
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
|
|
|
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
|
|
|
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)
|
rs267607188
|
|
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs)
|
rs1602291861
|
|
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter)
|
rs1602291658
|
|
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter)
|
rs2147121012
|
|
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
|
|
|
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs)
|
rs2074383129
|
|
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs)
|
rs1556863492
|
|
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter)
|
rs1569302816
|
|
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs)
|
rs2074381038
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs)
|
rs1556863435
|
|
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter)
|
rs2074379209
|
|
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs)
|
rs1556863398
|
|
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs)
|
rs1556863340
|
|
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs)
|
rs2074374579
|
|
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs)
|
rs2074373583
|
|
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs)
|
rs1556863165
|
|
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs)
|
rs1602283534
|
|
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs)
|
rs2074369642
|
|
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter)
|
rs2147096776
|
|
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter)
|
rs886041433
|
|
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln)
|
rs267607189
|
|
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter)
|
rs2147089995
|
|
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs)
|
rs2147089642
|
|
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
|
|
|
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val)
|
rs875989799
|
|
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter)
|
rs1569300687
|
|
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro)
|
rs267607187
|
|
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
|
|
|
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr)
|
rs1060499660
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter)
|
rs587777261
|
|
NM_001111125.3(IQSEC2):c.2582+2T>C
|
rs1569300277
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
|
|
|
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter)
|
rs2074317360
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs)
|
rs2074254630
|
|
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs)
|
rs2147059978
|
|
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2889+1G>A
|
rs1556861311
|
|
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter)
|
rs1131691887
|
|
NM_001111125.3(IQSEC2):c.3016-1G>T
|
|
|
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs)
|
rs2074181394
|
|
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs)
|
rs1602264294
|
|
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter)
|
rs2147032671
|
|
NM_001111125.3(IQSEC2):c.3116-3_3116-2del
|
rs797045140
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs)
|
rs2147026571
|
|
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
|
|
|
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
|
|
|
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter)
|
rs374220843
|
|
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter)
|
rs374220843
|
|
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter)
|
rs1556859652
|
|
NM_001111125.3(IQSEC2):c.3452-1G>A
|
rs2147010401
|
|
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs)
|
rs2147003883
|
|
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
|
|
|
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
|
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.3973dup (p.His1325fs)
|
|
|
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)
|
rs1064795512
|
|
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs)
|
rs2147001369
|
|
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
|
|
|
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs)
|
rs2074091750
|
|
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs)
|
rs2147000428
|
|
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs)
|
rs2146999877
|
|
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs)
|
rs2146999914
|
|
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs)
|
rs1569290954
|
|
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)
|
rs1569290954
|
|
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs)
|
rs1556858912
|
|
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs)
|
rs1602383045
|
|
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
|
|
|
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs)
|
rs1556880284
|
|
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs)
|
rs2146548468
|
|
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
|
|
|
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
|
|
|
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs)
|
rs2146547822
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs)
|
rs1556865104
|
|
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
|
|
|
NM_001111125.3(IQSEC2):c.863del (p.Val288fs)
|
rs1556865060
|
|
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
|
|
|
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs)
|
rs1602293475
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)
|
rs1049618423
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|
NM_001139498.2(FGF13):c.-32C>G
|
|
|
NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs)
|
rs886038210
|
|
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)
|
rs2147224405
|
|
NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His)
|
rs886038211
|
|
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
|
|
|
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)
|
|
|
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)
|
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)
|
rs1603271580
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
NM_001159699.2(FHL1):c.708_736+22del
|
rs2148378774
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159699.2(FHL1):c.736+1G>A
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
NM_001159699.2(FHL1):c.865dup (p.Cys289fs)
|
rs1603273697
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)
|
rs122459148
|
|
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)
|
rs267606811
|
|
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
|
|
|
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs)
|
rs2148096182
|
|
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs)
|
rs1556406033
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
NM_001167.4(XIAP):c.108del (p.Pro37fs)
|
rs1556404455
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter)
|
rs2148112149
|
|
NM_001167.4(XIAP):c.1458del (p.Val487fs)
|
rs1602562990
|
|
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
|
|
|
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter)
|
rs2053346219
|
|
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs)
|
rs2053346343
|
|
NM_001167.4(XIAP):c.292del (p.Glu99fs)
|
rs1556404534
|
|
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter)
|
rs104894764
|
|
NM_001167.4(XIAP):c.371del (p.Arg124fs)
|
|
|
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)
|
rs1556404575
|
|
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
|
rs2053348573
|
|
NM_001167.4(XIAP):c.446dup (p.Ser150fs)
|
rs2053348979
|
|
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
|
|
|
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro)
|
rs1569477871
|
|
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter)
|
rs2053350325
|
|
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del)
|
rs2148089962
|
|
NM_001167.4(XIAP):c.609dup (p.Gly204fs)
|
rs1602544507
|
|
NM_001167.4(XIAP):c.60del (p.Glu21fs)
|
rs2148089318
|
|
NM_001167.4(XIAP):c.651del (p.Trp217fs)
|
rs1556404673
|
|
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter)
|
rs1556404684
|
|
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
|
|
|
NM_001167.4(XIAP):c.672dup (p.Pro225fs)
|
rs1556404697
|
|
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter)
|
rs111978474
|
|
NM_001167.4(XIAP):c.755dup (p.Asn252fs)
|
rs2148090158
|
|
NM_001167.4(XIAP):c.894_898del (p.Lys299fs)
|
rs2148092759
|
|
NM_001167.4(XIAP):c.921_924del (p.Thr308fs)
|
rs2148092792
|
|
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter)
|
rs1602546782
|
|
NM_001167.4(XIAP):c.978-2A>G
|
rs2148096152
|
|
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
|
|
|
NM_001169122.2(AFF2):c.-460GCC[6_25]
|
rs193922937
|
|
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
|
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly)
|
rs2147539926
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs)
|
rs2147539848
|
|
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs)
|
rs796052828
|
|
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter)
|
rs1239794408
|
|
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)
|
rs2147539591
|
|
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
|
rs1928407939
|
|
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer)
|
rs1569315042
|
|
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
|
|
|
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
|
rs1928407149
|
|
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val)
|
rs1555985306
|
|
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
|
rs1555985301
|
|
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
|
|
|
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)
|
rs1928406047
|
|
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs)
|
rs1928405402
|
|
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)
|
rs1928405180
|
|
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter)
|
rs1928405180
|
|
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
|
|
|
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
|
rs1602636591
|
|
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs)
|
rs1602636591
|
|
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)
|
rs769967221
|
|
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter)
|
rs2147539395
|
|
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter)
|
rs2147539378
|
|
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
|
|
|
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter)
|
rs2147539361
|
|
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)
|
rs2147539327
|
|
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys)
|
rs796052813
|
|
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
|
|
|
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
|
|
|
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
|
|
|
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs)
|
rs886043572
|
|
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met)
|
rs764650219
|
|
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
|
rs1928398128
|
|
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu)
|
rs132630323
|
|
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
|
rs1602638463
|
|
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp)
|
rs2147539047
|
|
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn)
|
rs1569314809
|
|
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
|
|
|
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
|
rs1602638456
|
|
NM_001184880.2(PCDH19):c.1353del (p.His452fs)
|
rs2147539018
|
|
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs)
|
rs2147538939
|
|
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter)
|
rs2147538918
|
|
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
|
|
|
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer)
|
rs2147538910
|
|
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs)
|
rs1928388987
|
|
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs)
|
rs2147538807
|
|
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs)
|
rs1085307873
|
|
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
|
|
|
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs)
|
rs2147538796
|
|
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter)
|
rs132630326
|
|
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs)
|
rs2147538759
|
|
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs)
|
rs1555985163
|
|
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
|
|
|
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs)
|
rs1928383528
|
|
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
|
|
|
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs)
|
rs2147538605
|
|
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
|
|
|
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs)
|
rs1131691646
|
|
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
|
|
|
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
|
rs587784295
|
|
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter)
|
rs1555985105
|
|
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
|
|
|
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
|
|
|
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
|
rs1602635781
|
|
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs)
|
rs1928375176
|
|
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
|
rs1928374520
|
|
NM_001184880.2(PCDH19):c.1657_2616+3340del
|
|
|
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
|
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs)
|
rs2147538169
|
|
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
|
rs1569314475
|
|
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala)
|
rs1569314471
|
|
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser)
|
rs1569314471
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser)
|
rs1928370474
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
|
|
|
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs)
|
rs1928369132
|
|
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
|
|
|
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
|
|
|
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
|
rs749662385
|
|
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs)
|
rs2147537854
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
|
rs1928365677
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
|
|
|
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter)
|
rs796052820
|
|
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
|
|
|
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
|
rs1928359639
|
|
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)
|
rs796052835
|
|
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs)
|
rs1928355133
|
|
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs)
|
rs2147537315
|
|
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
|
|
|
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
|
|
|
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter)
|
rs132630325
|
|
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs)
|
rs1569314152
|
|
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
|
|
|
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
|
rs1928350631
|
|
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter)
|
rs1928349391
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
NM_001184880.2(PCDH19):c.2147+1G>T
|
rs1555984947
|
|
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter)
|
rs2147534335
|
|
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
|
|
|
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter)
|
rs1471944316
|
|
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter)
|
rs2147533439
|
|
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
|
|
|
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs)
|
rs2147533347
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg)
|
rs1569316056
|
|
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
|
|
|
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
|
|
|
NM_001184880.2(PCDH19):c.244dup (p.Val82fs)
|
rs1928471120
|
|
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
|
|
|
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs)
|
rs1555984453
|
|
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
|
rs1928224021
|
|
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs)
|
rs2147533148
|
|
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
|
|
|
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
|
|
|
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
|
|
|
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter)
|
rs132630324
|
|
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)
|
rs1928217668
|
|
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs)
|
rs1928217378
|
|
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs)
|
rs2147533042
|
|
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs)
|
rs1928216298
|
|
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
|
|
|
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter)
|
rs2147532974
|
|
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
|
|
|
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
|
|
|
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
|
|
|
NM_001184880.2(PCDH19):c.2617-1G>A
|
rs1602600561
|
|
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs)
|
rs2147492697
|
|
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
|
rs34651888
|
|
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
|
|
|
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter)
|
rs770935301
|
|
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
|
rs756414485
|
|
NM_001184880.2(PCDH19):c.2662dup (p.His888fs)
|
rs2147492627
|
|
NM_001184880.2(PCDH19):c.2675+1G>T
|
|
|
NM_001184880.2(PCDH19):c.2676-6A>G
|
rs1602595136
|
|
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
|
rs1602595101
|
|
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)
|
rs2147485081
|
|
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter)
|
rs1926264984
|
|
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter)
|
rs2147485040
|
|
NM_001184880.2(PCDH19):c.2848+1G>A
|
|
|
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
|
|
|
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs)
|
rs2147542264
|
|
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs)
|
rs2147542217
|
|
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
|
rs1602566823
|
|
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)
|
|
|
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
|
|
|
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala)
|
rs1928463633
|
|
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys)
|
rs796052796
|
|
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys)
|
rs796052796
|
|
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
|
rs796052797
|
|
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)
|
rs398123603
|
|
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
|
|
|
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs)
|
rs1928462092
|
|
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile)
|
rs2147543046
|
|
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter)
|
rs759398718
|
|
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter)
|
rs1555985689
|
|
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
|
|
|
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser)
|
rs1928459143
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His)
|
rs796052800
|
|
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
|
rs1928457666
|
|
NM_001184880.2(PCDH19):c.476del (p.Gly159fs)
|
rs1928457396
|
|
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
|
|
|
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter)
|
rs1555985639
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)
|
rs2147541733
|
|
NM_001184880.2(PCDH19):c.506del (p.Thr169fs)
|
rs2147541704
|
|
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
|
|
|
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter)
|
rs1928454112
|
|
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
|
|
|
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter)
|
rs2147542870
|
|
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
|
rs1928452385
|
|
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
|
rs1602637774
|
|
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs)
|
rs2147542837
|
|
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
|
|
|
NM_001184880.2(PCDH19):c.564del (p.Glu189fs)
|
rs1928449770
|
|
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter)
|
rs1602637696
|
|
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter)
|
rs2147541401
|
|
NM_001184880.2(PCDH19):c.581del (p.Lys194fs)
|
rs1928448324
|
|
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly)
|
rs2147541373
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)
|
rs2147541270
|
|
NM_001184880.2(PCDH19):c.615del (p.Phe206fs)
|
rs1928445406
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
NM_001184880.2(PCDH19):c.619del (p.Arg207fs)
|
rs1555985543
|
|
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu)
|
rs2147541121
|
|
NM_001184880.2(PCDH19):c.659del (p.Gly220fs)
|
rs1928441222
|
|
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
|
rs1602637452
|
|
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)
|
rs1928440191
|
|
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
|
rs1928439511
|
|
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn)
|
rs1928439241
|
|
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys)
|
rs796052807
|
|
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr)
|
rs1555985475
|
|
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)
|
rs1928437614
|
|
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg)
|
rs1060502176
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
NM_001184880.2(PCDH19):c.714del (p.Phe238fs)
|
rs2147540836
|
|
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)
|
rs1166554052
|
|
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
|
|
|
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
|
|
|
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly)
|
rs2147540751
|
|
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
|
|
|
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
|
|
|
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
|
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter)
|
rs1057524751
|
|
NM_001184880.2(PCDH19):c.805del (p.Thr269fs)
|
rs796052827
|
|
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs)
|
rs2147540522
|
|
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
|
|
|
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter)
|
rs794726897
|
|
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
|
rs1928426655
|
|
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs)
|
rs1928424443
|
|
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
|
|
|
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del)
|
rs1569315403
|
|
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs)
|
rs2147540431
|
|
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
|
|
|
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs)
|
rs1928424117
|
|
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter)
|
rs1555985427
|
|
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs)
|
rs1555985416
|
|
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs)
|
rs2147540245
|
|
NM_001184880.2(PCDH19):c.883del (p.Ser295fs)
|
rs2147540261
|
|
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
|
|
|
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter)
|
rs1569315231
|
|
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys)
|
rs796052794
|
|
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs)
|
rs2147542719
|
|
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter)
|
rs2147540086
|
|
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr)
|
rs2147540049
|
|
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
|
|
|
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
|
|
|
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter)
|
rs1928479952
|
|
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
|
|
|
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
|
|
|
NM_001184880.2(PCDH19):c.994del (p.Val332fs)
|
rs1569315156
|
|
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
|
|
|
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
|
|
|
NM_001252024.2(TRPM1):c.1089+3_1089+6del
|
rs772011426
|
|
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
|
|
|
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)
|
rs1195734631
|
|
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)
|
rs786205113
|
|
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)
|
rs267607140
|
|
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)
|
rs778390089
|
|
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001252024.2(TRPM1):c.482del (p.Gly161fs)
|
rs1226505973
|
|
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)
|
rs267607141
|
|
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
|
|
|
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)
|
rs122456133
|
|
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)
|
rs2065808928
|
|
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs)
|
rs2147916504
|
|
NM_001256789.3(CACNA1F):c.1877+1G>T
|
rs2147916480
|
|
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs)
|
rs2147910175
|
|
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser)
|
rs863225090
|
|
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)
|
rs122456135
|
|
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)
|
rs2065717735
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG
|
rs863223294
|
|
NM_001256789.3(CACNA1F):c.3598-133_3709-76del
|
rs2147900556
|
|
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)
|
rs1602630650
|
|
NM_001256789.3(CACNA1F):c.4260+2del
|
rs2065655753
|
|
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)
|
rs782581701
|
|
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs)
|
rs2147895629
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)
|
rs1569507511
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
NM_001272071.2(AP1S2):c.1-2A>G
|
rs1934209113
|
|
NM_001272071.2(AP1S2):c.1-3C>A
|
rs1060499672
|
|
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)
|
rs104894739
|
|
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)
|
rs104894735
|
|
NM_001272071.2(AP1S2):c.180-5_180-2del
|
rs587776738
|
|
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)
|
rs137852213
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
NM_001272071.2(AP1S2):c.288+1G>A
|
|
|
NM_001272071.2(AP1S2):c.288+5G>A
|
rs587776739
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
NM_001278116.2(L1CAM):c.1703+5G>A
|
|
|
NM_001278116.2(L1CAM):c.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)
|
rs879253715
|
|
NM_001278116.2(L1CAM):c.2432-19A>C
|
rs879253713
|
|
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
|
NM_001278116.2(L1CAM):c.3046+1G>A
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)
|
|
|
NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu)
|
rs122458139
|
|
NM_001318510.2(ACSL4):c.1003-2A>G
|
rs1569423317
|
|
NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser)
|
rs122458138
|
|
NM_001318510.2(ACSL4):c.802del (p.Leu268fs)
|
rs2147437405
|
|
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu)
|
rs137853167
|
|
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg)
|
rs137853165
|
|
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser)
|
rs137853168
|
|
NM_001320752.2(STS):c.1241+1G>T
|
rs1601748137
|
|
NM_001320752.2(STS):c.1316A>G (p.His439Arg)
|
rs137853169
|
|
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr)
|
rs137853166
|
|
NM_001320752.2(STS):c.272G>A (p.Trp91Ter)
|
rs1463414987
|
|
NM_001325.3(CSTF2):c.149A>C (p.Asp50Ala)
|
|
|
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser)
|
rs1569271378
|
|
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg)
|
rs1569271892
|
|
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu)
|
rs1569350993
|
|
NM_001330360.2(POLA1):c.463-2A>T
|
rs2148341850
|
|
NM_001330360.2(POLA1):c.525+1G>A
|
rs1569277899
|
|
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)
|
rs1931281945
|
|
NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter)
|
rs199422240
|
|
NM_001330574.2(ZNF711):c.2192del (p.Phe731fs)
|
rs1060505032
|
|
NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer)
|
rs1603009115
|
|
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)
|
rs1060505033
|
|
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)
|
rs1556323334
|
|
NM_001353812.2(ATP11C):c.1666+2T>C
|
rs2148723294
|
|
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)
|
rs869312941
|
|
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)
|
rs2048831313
|
|
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter)
|
rs2147218558
|
|
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
|
rs1602253296
|
|
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
|
|
|
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)
|
rs121918361
|
|
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
NM_001353921.2(ARHGEF9):c.402+1G>C
|
|
|
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)
|
rs397514460
|
|
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)
|
rs1602446549
|
|
NM_001353921.2(ARHGEF9):c.582+1G>A
|
rs1569476483
|
|
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
|
|
|
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)
|
rs1135401795
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)
|
rs1569458475
|
|
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
|
|
|
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter)
|
rs2147307979
|
|
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)
|
rs2050112328
|
|
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)
|
rs2147266023
|
|
NM_001356.5(DDX3X):c.1025+1G>A
|
rs2147354193
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)
|
rs797045026
|
|
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)
|
rs1555953819
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
|
rs2063908570
|
|
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
|
|
|
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)
|
rs1555951993
|
|
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly)
|
rs1602134248
|
|
NM_001356.5(DDX3X):c.1171-1G>C
|
rs1602134459
|
|
NM_001356.5(DDX3X):c.1171-2A>G
|
rs2147356545
|
|
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs)
|
rs2147356679
|
|
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)
|
rs2147356723
|
|
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter)
|
rs2147356745
|
|
NM_001356.5(DDX3X):c.1316-2A>G
|
rs1602135698
|
|
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
|
|
|
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)
|
rs1569234653
|
|
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
|
|
|
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu)
|
rs1555954105
|
|
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)
|
rs2063923605
|
|
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr)
|
rs1569240005
|
|
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
|
|
|
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs)
|
rs2147358635
|
|
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)
|
rs2063923749
|
|
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)
|
rs2063927503
|
|
NM_001356.5(DDX3X):c.152-1G>A
|
rs1131691769
|
|
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr)
|
rs797045024
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)
|
rs2147360033
|
|
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
|
rs1057519430
|
|
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter)
|
rs2063933550
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.192dup (p.Asp65fs)
|
rs1057519431
|
|
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)
|
rs2147348697
|
|
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
|
|
|
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter)
|
rs886041589
|
|
NM_001356.5(DDX3X):c.255del (p.Phe85fs)
|
rs1131691299
|
|
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)
|
rs1602127262
|
|
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu)
|
rs1057519446
|
|
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)
|
rs1057518171
|
|
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
|
|
|
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs)
|
rs2147350816
|
|
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
|
|
|
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)
|
rs875989803
|
|
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
|
|
|
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter)
|
rs869312692
|
|
NM_001356.5(DDX3X):c.641_643del (p.Ile214del)
|
rs2063876114
|
|
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)
|
rs2063876197
|
|
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)
|
rs2063876393
|
|
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)
|
rs2063876594
|
|
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
|
|
|
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)
|
rs2147340483
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter)
|
rs752738546
|
|
NM_001356.5(DDX3X):c.770dup (p.Asn257fs)
|
rs1555953398
|
|
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter)
|
rs2063889019
|
|
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs)
|
rs1602131859
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter)
|
rs2147353543
|
|
NM_001356.5(DDX3X):c.865-2A>G
|
|
|
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter)
|
rs869320681
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
|
|
|
NM_001356.5(DDX3X):c.930dup (p.Arg311fs)
|
rs2147353994
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)
|
rs1555953548
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)
|
rs1602119305
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)
|
rs137854492
|
|
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)
|
rs121912293
|
|
NM_001363.5(DKC1):c.109_111del (p.Leu37del)
|
rs137854489
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)
|
rs199422252
|
|
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)
|
rs121912292
|
|
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)
|
rs121912295
|
|
NM_001363.5(DKC1):c.1259+1G>A
|
rs1569558616
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.16+592C>G
|
rs1603429348
|
|
NM_001363.5(DKC1):c.203A>G (p.His68Arg)
|
rs1557264102
|
|
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)
|
rs121912294
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)
|
rs137854491
|
|
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter)
|
rs1556254569
|
|
NM_001367721.1(CASK):c.1315-7A>G
|
rs1555986221
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)
|
rs1569306724
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)
|
rs1602253464
|
|
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
|
|
|
NM_001367721.1(CASK):c.2039+1G>A
|
rs2147138207
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
|
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)
|
rs1569295677
|
|
NM_001367721.1(CASK):c.2317+1G>A
|
rs1555975458
|
|
NM_001367721.1(CASK):c.2318-2A>G
|
rs863224854
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
NM_001367721.1(CASK):c.2604+1G>T
|
rs1555972599
|
|
NM_001367721.1(CASK):c.278+2_278+3del
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
NM_001367721.1(CASK):c.533-2A>G
|
rs1569380062
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)
|
rs1556014749
|
|
NM_001367721.1(CASK):c.68del (p.Phe23fs)
|
rs1135401762
|
|
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
|
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
|
rs1602424869
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)
|
rs1602424764
|
|
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter)
|
rs2147465256
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001367721.1(CASK):c.915G>A (p.Lys305=)
|
rs387906499
|
|
NM_001368397.1(FRMPD4):c.1411G>T (p.Glu471Ter)
|
|
|
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)
|
rs886038209
|
|
NM_001368397.1(FRMPD4):c.1851del (p.Cys618fs)
|
rs886038208
|
|
NM_001368397.1(FRMPD4):c.856C>T (p.Arg286Ter)
|
rs1569057837
|
|
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)
|
rs1574785867
|
|
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
|
|
|
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter)
|
rs1684878263
|
|
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)
|
rs104894910
|
|
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)
|
rs104894911
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)
|
rs62637021
|
|
NM_001399.4(EDA):c.(?_-115)_(174_?)del
|
|
|
NM_001399.4(EDA):c.(?_397)_(502_?)del
|
|
|
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
|
|
|
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
|
|
|
NM_001399.4(EDA):c.(?_707)_(741_?)del
|
|
|
NM_001399.4(EDA):c.(?_925)_(1176_?)del
|
|
|
NM_001399.5(EDA):c.-36_47del (p.Met1fs)
|
rs1931920527
|
|
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)
|
rs191378148
|
|
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
|
|
|
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
|
|
|
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)
|
rs132630317
|
|
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)
|
rs876657639
|
|
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)
|
rs876657639
|
|
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)
|
rs886039347
|
|
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
|
|
|
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs)
|
rs1556110934
|
|
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
|
rs2020255486
|
|
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
|
|
|
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
|
|
|
NM_001399.5(EDA):c.1133C>T (p.Thr378Met)
|
rs1569407346
|
|
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)
|
rs2147519384
|
|
NM_001399.5(EDA):c.1144del (p.Ala382fs)
|
|
|
NM_001399.5(EDA):c.11del (p.Pro4fs)
|
rs1602221405
|
|
NM_001399.5(EDA):c.132_135dup (p.Phe46fs)
|
rs727505089
|
|
NM_001399.5(EDA):c.134G>A (p.Gly45Asp)
|
rs1931938364
|
|
NM_001399.5(EDA):c.167T>A (p.Leu56Gln)
|
rs1569272203
|
|
NM_001399.5(EDA):c.180C>A (p.Cys60Ter)
|
rs1131692034
|
|
NM_001399.5(EDA):c.181T>C (p.Tyr61His)
|
rs132630308
|
|
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)
|
rs132630318
|
|
NM_001399.5(EDA):c.187G>A (p.Glu63Lys)
|
rs132630311
|
|
NM_001399.5(EDA):c.1A>G (p.Met1Val)
|
rs2147196982
|
|
NM_001399.5(EDA):c.213del (p.Glu71fs)
|
rs2147197808
|
|
NM_001399.5(EDA):c.216_220del (p.Gly73fs)
|
rs2147197831
|
|
NM_001399.5(EDA):c.223G>T (p.Glu75Ter)
|
rs2147197866
|
|
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs)
|
rs1555972067
|
|
NM_001399.5(EDA):c.239dup (p.Ser81fs)
|
rs1555972071
|
|
NM_001399.5(EDA):c.252del (p.Gly85fs)
|
rs1569272328
|
|
NM_001399.5(EDA):c.271dup (p.Ser91fs)
|
rs1931956776
|
|
NM_001399.5(EDA):c.272dup (p.Ser91fs)
|
rs397516656
|
|
NM_001399.5(EDA):c.286del (p.Leu96fs)
|
|
|
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
|
|
|
NM_001399.5(EDA):c.2T>C (p.Met1Thr)
|
rs397516659
|
|
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
|
|
|
NM_001399.5(EDA):c.319_322dup (p.Gln108fs)
|
rs876657684
|
|
NM_001399.5(EDA):c.326dup (p.Ser110fs)
|
rs2147198269
|
|
NM_001399.5(EDA):c.329C>A (p.Ser110Ter)
|
rs397516660
|
|
NM_001399.5(EDA):c.347T>A (p.Leu116Ter)
|
rs397516661
|
|
NM_001399.5(EDA):c.396+1G>A
|
rs727504537
|
|
NM_001399.5(EDA):c.396+2T>G
|
rs727504814
|
|
NM_001399.5(EDA):c.396+4dup
|
rs1569272528
|
|
NM_001399.5(EDA):c.397-1G>C
|
|
|
NM_001399.5(EDA):c.413_416del (p.Phe138fs)
|
rs2019017595
|
|
NM_001399.5(EDA):c.441dup (p.Glu148Ter)
|
rs2147419086
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
NM_001399.5(EDA):c.459dup (p.Val154fs)
|
rs1569384962
|
|
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)
|
rs132630313
|
|
NM_001399.5(EDA):c.467G>T (p.Arg156Leu)
|
rs132630314
|
|
NM_001399.5(EDA):c.474A>C (p.Lys158Asn)
|
rs727504649
|
|
NM_001399.5(EDA):c.479G>A (p.Ser160Asn)
|
rs1556039088
|
|
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001399.5(EDA):c.492del (p.Gly165fs)
|
rs2019019815
|
|
NM_001399.5(EDA):c.494G>C (p.Gly165Ala)
|
rs1057521131
|
|
NM_001399.5(EDA):c.497del (p.Ala166fs)
|
rs2147419276
|
|
NM_001399.5(EDA):c.502+1G>A
|
rs727505013
|
|
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs)
|
rs1556092261
|
|
NM_001399.5(EDA):c.526+1G>A
|
rs2147503858
|
|
NM_001399.5(EDA):c.527-2A>T
|
rs1569404780
|
|
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
|
|
|
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)
|
rs397516665
|
|
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del)
|
rs2147509524
|
|
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)
|
rs397516666
|
|
NM_001399.5(EDA):c.560dup (p.Pro188fs)
|
rs1556098384
|
|
NM_001399.5(EDA):c.562_589del (p.Pro188fs)
|
rs397516667
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
NM_001399.5(EDA):c.572del (p.Pro191fs)
|
|
|
NM_001399.5(EDA):c.573_574insT (p.Gly192fs)
|
rs1569404873
|
|
NM_001399.5(EDA):c.576_592del (p.Pro193fs)
|
rs2147509622
|
|
NM_001399.5(EDA):c.585_697del (p.Pro196fs)
|
rs2147509660
|
|
NM_001399.5(EDA):c.589del (p.Gln197fs)
|
rs2020137674
|
|
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
|
|
|
NM_001399.5(EDA):c.595_613del (p.Pro199fs)
|
rs2147509712
|
|
NM_001399.5(EDA):c.599del (p.Pro200fs)
|
rs1556098570
|
|
NM_001399.5(EDA):c.599dup (p.Gly201fs)
|
rs1556098570
|
|
NM_001399.5(EDA):c.602G>A (p.Gly201Glu)
|
rs2147509771
|
|
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del)
|
rs1602618255
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
NM_001399.5(EDA):c.614_699del (p.Ile205fs)
|
rs2147509775
|
|
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)
|
rs2147509825
|
|
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)
|
rs2020139491
|
|
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)
|
rs132630315
|
|
NM_001399.5(EDA):c.628G>A (p.Gly210Arg)
|
rs1556098733
|
|
NM_001399.5(EDA):c.628G>T (p.Gly210Ter)
|
rs1556098733
|
|
NM_001399.5(EDA):c.632C>G (p.Thr211Arg)
|
rs2147509853
|
|
NM_001399.5(EDA):c.643G>T (p.Gly215Ter)
|
rs2147509886
|
|
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)
|
rs876657685
|
|
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
|
|
|
NM_001399.5(EDA):c.659C>T (p.Pro220Leu)
|
rs2147509932
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
|
|
|
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
|
|
|
NM_001399.5(EDA):c.663_697del (p.Pro222fs)
|
rs397516670
|
|
NM_001399.5(EDA):c.670G>C (p.Gly224Arg)
|
rs1602618398
|
|
NM_001399.5(EDA):c.671G>C (p.Gly224Ala)
|
rs132630316
|
|
NM_001399.5(EDA):c.673_706+2del
|
rs2020140911
|
|
NM_001399.5(EDA):c.676C>T (p.Gln226Ter)
|
rs727503007
|
|
NM_001399.5(EDA):c.67C>T (p.Gln23Ter)
|
rs132630310
|
|
NM_001399.5(EDA):c.681_697del (p.Pro228fs)
|
rs1556098978
|
|
NM_001399.5(EDA):c.686dup (p.Gly230fs)
|
rs1602618442
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
NM_001399.5(EDA):c.706+1G>C
|
rs886039344
|
|
NM_001399.5(EDA):c.706+5G>T
|
rs780966428
|
|
NM_001399.5(EDA):c.707-13T>G
|
rs2147511678
|
|
NM_001399.5(EDA):c.707-2A>T
|
rs2147511696
|
|
NM_001399.5(EDA):c.720del (p.Ala241fs)
|
|
|
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)
|
rs397516672
|
|
NM_001399.5(EDA):c.741G>A (p.Gln247=)
|
rs886042183
|
|
NM_001399.5(EDA):c.755A>T (p.His252Leu)
|
rs879255552
|
|
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
|
|
|
NM_001399.5(EDA):c.766C>T (p.Gln256Ter)
|
rs727504417
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001399.5(EDA):c.801A>G (p.Ser267=)
|
rs2147516275
|
|
NM_001399.5(EDA):c.809del (p.Val270fs)
|
rs727503008
|
|
NM_001399.5(EDA):c.822G>A (p.Trp274Ter)
|
rs397516675
|
|
NM_001399.5(EDA):c.822del (p.Trp274fs)
|
rs397516676
|
|
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)
|
rs387907197
|
|
NM_001399.5(EDA):c.827G>T (p.Arg276Leu)
|
rs1057517731
|
|
NM_001399.5(EDA):c.837G>A (p.Met279Ile)
|
|
|
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)
|
rs879255551
|
|
NM_001399.5(EDA):c.865del (p.Arg289fs)
|
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
|
|
|
NM_001399.5(EDA):c.872G>A (p.Gly291Glu)
|
rs886042021
|
|
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del)
|
rs1602622972
|
|
NM_001399.5(EDA):c.883del (p.Val295fs)
|
|
|
NM_001399.5(EDA):c.889_898del (p.Val297fs)
|
|
|
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)
|
rs397516679
|
|
NM_001399.5(EDA):c.896G>A (p.Gly299Asp)
|
rs2147516523
|
|
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
|
|
|
NM_001399.5(EDA):c.912_913dup (p.Ser305fs)
|
rs1569406514
|
|
NM_001399.5(EDA):c.916C>T (p.Gln306Ter)
|
rs2147516557
|
|
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
|
|
|
NM_001399.5(EDA):c.924+1G>A
|
rs2147516572
|
|
NM_001399.5(EDA):c.924+4A>T
|
|
|
NM_001399.5(EDA):c.948del (p.Phe317fs)
|
rs727503010
|
|
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)
|
rs876657687
|
|
NM_001399.5(EDA):c.961G>T (p.Glu321Ter)
|
rs397516682
|
|
NM_001399.5(EDA):c.970G>A (p.Val324Met)
|
rs1556110308
|
|
NM_001399.5(EDA):c.986T>C (p.Phe329Ser)
|
rs1569407150
|
|
NM_001399.5(EDA):c.991C>T (p.Gln331Ter)
|
rs727503011
|
|
NM_001399.5(EDA):c.998C>G (p.Thr333Arg)
|
rs1556110379
|
|
NM_001399.5(EDA):c.[866G>C;868A>T]
|
|
|
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser)
|
rs2147131515
|
|
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)
|
rs886040857
|
|
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)
|
rs1057515578
|
|
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr)
|
rs886040855
|
|
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met)
|
rs886040856
|
|
NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)
|
rs2068755805
|
|
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)
|
rs2068757385
|
|
NM_001493.3(GDI1):c.1186_1187del (p.Ser396fs)
|
rs398122814
|
|
NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro)
|
rs121434609
|
|
NM_001493.3(GDI1):c.208C>T (p.Arg70Ter)
|
rs121434608
|
|
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)
|
rs121434607
|
|
NM_001551.3(IGBP1):c.-57_-55delinsAA
|
rs2147562704
|
|
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del)
|
rs1556181091
|
|
NM_001555.5(IGSF1):c.2233del (p.Glu745fs)
|
rs398122920
|
|
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs)
|
rs1603404421
|
|
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro)
|
rs1603404413
|
|
NM_001555.5(IGSF1):c.2407dup (p.His803fs)
|
rs1603404297
|
|
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe)
|
rs397514622
|
|
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter)
|
rs398122919
|
|
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter)
|
rs1220996970
|
|
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs)
|
rs398122921
|
|
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)
|
rs2147167432
|
|
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met)
|
rs1569231897
|
|
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)
|
rs587777161
|
|
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
|
|
|
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val)
|
rs879255583
|
|
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)
|
rs879255584
|
|
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg)
|
rs1569233549
|
|
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)
|
rs1569226551
|
|
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs)
|
rs1923775114
|
|
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val)
|
rs1569230006
|
|
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter)
|
rs2147179499
|
|
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
|
|
|
NM_002024.6(FMR1):c.-128GGC[55_200]
|
|
|
NM_002024.6:c.-128GGM[55_?]
|
|
|
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu)
|
rs761094724
|
|
NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln)
|
rs2147065620
|
|
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)
|
rs1601761445
|
|
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
|
|
|
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)
|
|
|
NM_002351.5(SH2D1A):c.-10C>T
|
rs1603236465
|
|
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
|
|
|
NM_002351.5(SH2D1A):c.137+5G>C
|
rs587777612
|
|
NM_002351.5(SH2D1A):c.138-1G>A
|
|
|
NM_002351.5(SH2D1A):c.138-1G>T
|
rs1603238847
|
|
NM_002351.5(SH2D1A):c.149_201+106del
|
|
|
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn)
|
rs2147531326
|
|
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)
|
rs111033623
|
|
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu)
|
rs111033630
|
|
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter)
|
rs111033628
|
|
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter)
|
rs746035909
|
|
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter)
|
rs1556620706
|
|
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
|
|
|
NM_002351.5(SH2D1A):c.201+1G>A
|
|
|
NM_002351.5(SH2D1A):c.202-1G>C
|
rs2147534019
|
|
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)
|
rs111033627
|
|
NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys)
|
rs1569527111
|
|
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
|
|
|
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)
|
rs2147534047
|
|
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
|
|
|
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
|
|
|
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
|
|
|
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)
|
rs2147519353
|
|
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu)
|
rs111033626
|
|
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg)
|
rs111033625
|
|
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile)
|
rs111033629
|
|
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr)
|
rs111033624
|
|
NM_002547.2(OPHN1):c.313_326del
|
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)
|
rs1569211016
|
|
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp)
|
rs2147627388
|
|
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)
|
rs137854493
|
|
NM_002547.3(OPHN1):c.2159-1G>C
|
rs2147349266
|
|
NM_002547.3(OPHN1):c.384+1G>A
|
rs2147594453
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
|
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)
|
rs1569244467
|
|
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)
|
rs1569243931
|
|
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu)
|
rs121434613
|
|
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter)
|
rs121434611
|
|
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)
|
rs121434614
|
|
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys)
|
rs121434612
|
|
NM_002578.5(PAK3):c.276+4A>G
|
rs1569398769
|
|
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)
|
rs587781261
|
|
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)
|
rs587781262
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)
|
rs587777150
|
|
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro)
|
rs869025594
|
|
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)
|
rs869025593
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)
|
rs587781263
|
|
NM_003179.3(SYP):c.177_178delinsGT (p.Asn59_Lys60delinsLysTer)
|
rs2147884161
|
|
NM_003179.3(SYP):c.274dup (p.Thr92fs)
|
rs2147882650
|
|
NM_003179.3(SYP):c.649G>C (p.Gly217Arg)
|
rs137852561
|
|
NM_003179.3(SYP):c.829_832del (p.Asp277fs)
|
rs2065508863
|
|
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln)
|
rs387906728
|
|
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter)
|
rs104894952
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
NM_003491.4(NAA10):c.*39A>G
|
rs1603289774
|
|
NM_003491.4(NAA10):c.*40A>G
|
rs1342269961
|
|
NM_003491.4(NAA10):c.*43A>G
|
rs1603289772
|
|
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro)
|
rs387906701
|
|
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser)
|
rs863225427
|
|
NM_003491.4(NAA10):c.16G>C (p.Ala6Pro)
|
rs2148537138
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg)
|
rs2065171820
|
|
NM_003491.4(NAA10):c.319G>T (p.Val107Phe)
|
rs587780562
|
|
NM_003491.4(NAA10):c.332T>G (p.Val111Gly)
|
rs1557107528
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
|
|
|
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
|
|
|
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
|
rs878853263
|
|
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro)
|
rs2065169457
|
|
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)
|
rs2065162324
|
|
NM_003491.4(NAA10):c.455_458del (p.Thr152fs)
|
rs2148534324
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
NM_003491.4(NAA10):c.472-2A>C
|
rs2065158556
|
|
NM_003491.4(NAA10):c.47A>C (p.His16Pro)
|
rs2065185202
|
|
NM_003491.4(NAA10):c.494_495del (p.Lys165fs)
|
rs1569546255
|
|
NM_003688.3:c.116_117delCA
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)
|
rs781767722
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys)
|
rs2033690347
|
|
NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del)
|
rs2033689385
|
|
NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro)
|
rs2033688284
|
|
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)
|
rs199422235
|
|
NM_004187.5(KDM5C):c.12dup (p.Ser5fs)
|
rs2146978931
|
|
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg)
|
rs199422237
|
|
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)
|
rs2146919819
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)
|
rs886037836
|
|
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
|
|
|
NM_004187.5(KDM5C):c.202dup (p.Arg68fs)
|
rs782600511
|
|
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter)
|
rs199422236
|
|
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)
|
rs2146852767
|
|
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter)
|
rs281860639
|
|
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe)
|
rs199422234
|
|
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
|
|
|
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr)
|
rs199422239
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_004187.5(KDM5C):c.2517_2622del
|
rs2146844343
|
|
NM_004187.5(KDM5C):c.2622+2dup
|
rs1057519393
|
|
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
|
|
|
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
|
|
|
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)
|
rs2146837810
|
|
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
|
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
|
rs1934751829
|
|
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
|
|
|
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)
|
rs1131692227
|
|
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
|
|
|
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter)
|
rs1934657828
|
|
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
|
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs)
|
rs1060499661
|
|
NM_004187.5(KDM5C):c.807del (p.Thr270fs)
|
rs1569278313
|
|
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)
|
rs2146978491
|
|
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)
|
rs2146934865
|
|
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)
|
rs2146934832
|
|
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)
|
rs863225431
|
|
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)
|
rs281864468
|
|
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile)
|
rs1603227409
|
|
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala)
|
rs863225432
|
|
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser)
|
rs1603224817
|
|
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)
|
rs1601954686
|
|
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)
|
rs137853266
|
|
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
|
|
|
NM_004463.3(FGD1):c.1396A>G (p.Met466Val)
|
rs137853267
|
|
NM_004463.3(FGD1):c.1422del (p.Phe474fs)
|
rs2147432826
|
|
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)
|
rs1601953661
|
|
NM_004463.3(FGD1):c.1565G>A (p.Arg522His)
|
rs137853264
|
|
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)
|
rs1601953552
|
|
NM_004463.3(FGD1):c.1695+1G>A
|
rs1922506770
|
|
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)
|
rs28935497
|
|
NM_004463.3(FGD1):c.1843-1G>A
|
rs1601950553
|
|
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)
|
rs387906718
|
|
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
|
|
|
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer)
|
rs2147436223
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.527dup (p.Leu177fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.545del (p.Pro182fs)
|
rs1922869724
|
|
NM_004463.3(FGD1):c.679del (p.Ser227fs)
|
rs1922859149
|
|
NM_004463.3(FGD1):c.944dup (p.Ala316fs)
|
rs1569541255
|
|
NM_004586.3(RPS6KA3):c.1000-2A>G
|
rs2148664125
|
|
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp)
|
rs122454129
|
|
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs)
|
rs2148662359
|
|
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs)
|
rs797045920
|
|
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del)
|
rs1603420690
|
|
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
|
|
|
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1602+2dup
|
|
|
NM_004586.3(RPS6KA3):c.1740del (p.Cys579_Tyr580insTer)
|
rs2148643497
|
|
NM_004586.3(RPS6KA3):c.1765-2A>C
|
rs2067343280
|
|
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
|
|
|
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)
|
rs1569190602
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
NM_004586.3(RPS6KA3):c.1959+2dup
|
rs1057518853
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
|
|
|
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter)
|
rs122454128
|
|
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
|
|
|
NM_004586.3(RPS6KA3):c.2101-2A>G
|
|
|
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)
|
rs2148622591
|
|
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)
|
rs1603417213
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)
|
rs1603417191
|
|
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val)
|
rs122454124
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe)
|
rs122454126
|
|
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer)
|
rs2148721944
|
|
NM_004586.3(RPS6KA3):c.326-11A>G
|
rs1555943503
|
|
NM_004586.3(RPS6KA3):c.326-1G>C
|
rs587776755
|
|
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)
|
rs1555943492
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)
|
rs1555943479
|
|
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)
|
rs122454127
|
|
NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser)
|
rs387906703
|
|
NM_004586.3(RPS6KA3):c.407-1G>T
|
|
|
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)
|
rs2148701884
|
|
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)
|
rs1603426295
|
|
NM_004586.3(RPS6KA3):c.455GAG[1] (p.Gly153del)
|
rs398122813
|
|
NM_004586.3(RPS6KA3):c.486+3A>G
|
rs1603426293
|
|
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)
|
rs122454130
|
|
NM_004586.3(RPS6KA3):c.593+2_593+5del
|
rs1555942692
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004586.3(RPS6KA3):c.632-2A>C
|
rs2148686736
|
|
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala)
|
rs122454125
|
|
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
|
|
|
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
|
rs1603425345
|
|
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs)
|
rs2148686409
|
|
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs)
|
rs2148686334
|
|
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser)
|
rs122454131
|
|
NM_004586.3(RPS6KA3):c.845+5G>A
|
|
|
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
|
|
|
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)
|
rs1603422409
|
|
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
|
|
|
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)
|
rs1603422403
|
|
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
|
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
NM_004595.5(SMS):c.200G>A (p.Gly67Glu)
|
rs397515550
|
|
NM_004595.5(SMS):c.329+5G>A
|
rs397515381
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
NM_004595.5(SMS):c.395T>G (p.Val132Gly)
|
rs267607076
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
NM_004595.5(SMS):c.608G>A (p.Gly203Asp)
|
rs1924650670
|
|
NM_004595.5(SMS):c.908_911del (p.Met303fs)
|
rs1602220706
|
|
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)
|
rs397515553
|
|
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)
|
rs2033670961
|
|
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)
|
rs2148276174
|
|
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)
|
rs864321630
|
|
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)
|
rs864321628
|
|
NM_004606.5(TAF1):c.2866G>C (p.Asp956His)
|
rs864321631
|
|
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)
|
rs1569301036
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)
|
rs864321627
|
|
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)
|
rs2148488251
|
|
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)
|
rs1602624914
|
|
NM_004615.4(TSPAN7):c.289del (p.Leu97fs)
|
rs2147452502
|
|
NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)
|
|
|
NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter)
|
rs104894950
|
|
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
|
|
|
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del)
|
rs1555403793
|
|
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg)
|
rs1555407654
|
|
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs)
|
rs766780281
|
|
NM_005120.3(MED12):c.1924_1974+17dup
|
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
|
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005334.3(HCFC1):c.-970T>C
|
rs398122908
|
|
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)
|
rs397515487
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)
|
rs869312686
|
|
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)
|
rs318240758
|
|
NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs)
|
rs431825172
|
|
NM_005391.5(PDK3):c.473G>A (p.Arg158His)
|
rs397515323
|
|
NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)
|
|
|
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_005765.3(ATP6AP2):c.168+6T>A
|
rs1057519331
|
|
NM_005765.3(ATP6AP2):c.301-11_301-10del
|
rs1926795050
|
|
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)
|
rs121918521
|
|
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)
|
rs397518480
|
|
NM_006013.5(RPL10):c.191C>T (p.Ala64Val)
|
rs1131692042
|
|
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)
|
rs1131692040
|
|
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser)
|
rs1131692041
|
|
NM_006517.5(SLC16A2):c.-6_430+5del
|
rs2147833779
|
|
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
|
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
|
rs1380635081
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)
|
rs104894940
|
|
NM_006517.5(SLC16A2):c.1170+4_1170+7del
|
rs1555989846
|
|
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
|
rs122455132
|
|
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
|
rs1602143383
|
|
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)
|
rs104894931
|
|
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
|
rs1602143432
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)
|
rs1569281085
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
|
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)
|
rs1602099961
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
|
|
|
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)
|
rs2147870614
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
|
rs1930463806
|
|
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
|
|
|
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)
|
rs2147777346
|
|
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro)
|
rs2147777343
|
|
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
|
|
|
NM_006521.6(TFE3):c.559A>G (p.Thr187Ala)
|
rs2147776463
|
|
NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)
|
|
|
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg)
|
rs2064742925
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro)
|
rs2147776381
|
|
NM_006521.6(TFE3):c.780+1G>A
|
rs2147776168
|
|
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)
|
rs587783599
|
|
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)
|
rs587783600
|
|
NM_006579.3(EBP):c.187C>T (p.Arg63Ter)
|
rs104894799
|
|
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
|
rs2061771803
|
|
NM_006579.3(EBP):c.225dup (p.His76fs)
|
rs797045543
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)
|
rs145509273
|
|
NM_006579.3(EBP):c.292_296del (p.Ser98fs)
|
rs587783604
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)
|
rs587783608
|
|
NM_006579.3(EBP):c.310T>C (p.Tyr104His)
|
rs587783609
|
|
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
|
|
|
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)
|
rs587783613
|
|
NM_006579.3(EBP):c.329G>A (p.Arg110Gln)
|
rs1602090481
|
|
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)
|
rs797045544
|
|
NM_006579.3(EBP):c.338+1G>C
|
rs1569479885
|
|
NM_006579.3(EBP):c.338+1G>T
|
rs1569479885
|
|
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)
|
rs104894792
|
|
NM_006579.3(EBP):c.390del (p.Pro131fs)
|
rs1569479901
|
|
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)
|
rs797045546
|
|
NM_006579.3(EBP):c.440G>A (p.Arg147His)
|
rs28935174
|
|
NM_006579.3(EBP):c.464_465del (p.Ser155fs)
|
rs587783615
|
|
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
NM_006579.3(EBP):c.484dup (p.Asp162fs)
|
rs797045547
|
|
NM_006579.3(EBP):c.506_507del (p.Glu169fs)
|
rs1602091152
|
|
NM_006579.3(EBP):c.523C>T (p.Gln175Ter)
|
rs104894793
|
|
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)
|
rs1569480016
|
|
NM_006579.3(EBP):c.587G>A (p.Trp196Ter)
|
rs104894794
|
|
NM_006579.3(EBP):c.87G>A (p.Trp29Ter)
|
rs104894798
|
|
NM_006950.3(SYN1):c.1001del (p.Asn334fs)
|
rs1603051674
|
|
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter)
|
rs137852560
|
|
NM_006950.3(SYN1):c.1166dup (p.Ser390fs)
|
rs2147912740
|
|
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
|
|
|
NM_006950.3(SYN1):c.122del (p.Gly41fs)
|
rs2147933505
|
|
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs)
|
rs2147912678
|
|
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
|
|
|
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter)
|
rs757027813
|
|
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
|
|
|
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
|
|
|
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
|
|
|
NM_006950.3(SYN1):c.1385dup (p.Pro463fs)
|
rs2147912440
|
|
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
|
|
|
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)
|
rs1556857481
|
|
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
|
|
|
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)
|
rs2057771219
|
|
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter)
|
rs1603050544
|
|
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
|
|
|
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
|
|
|
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
|
|
|
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)
|
rs397514680
|
|
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
|
|
|
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)
|
rs397514679
|
|
NM_006950.3(SYN1):c.1682dup (p.Gln562fs)
|
rs2147912165
|
|
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
|
|
|
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
|
|
|
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs)
|
rs2147912005
|
|
NM_006950.3(SYN1):c.236C>G (p.Ser79Trp)
|
rs2057941303
|
|
NM_006950.3(SYN1):c.248_264del (p.Ala83fs)
|
rs2057941229
|
|
NM_006950.3(SYN1):c.2del (p.Met1fs)
|
rs2057942403
|
|
NM_006950.3(SYN1):c.39del (p.Phe13fs)
|
|
|
NM_006950.3(SYN1):c.433_434del (p.Gln145fs)
|
rs2147928664
|
|
NM_006950.3(SYN1):c.527+1G>T
|
|
|
NM_006950.3(SYN1):c.528-2A>T
|
rs1556860663
|
|
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
|
|
|
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
|
|
|
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter)
|
rs2147927599
|
|
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
|
rs2057891984
|
|
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
|
|
|
NM_006950.3(SYN1):c.980+43_981del
|
|
|
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
|
|
|
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)
|
rs2147384890
|
|
NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val)
|
rs140908982
|
|
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg)
|
rs587777361
|
|
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)
|
rs137852351
|
|
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
|
|
|
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)
|
rs1135401788
|
|
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)
|
rs2147401116
|
|
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr)
|
rs137852352
|
|
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)
|
rs137852350
|
|
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)
|
rs139990565
|
|
NM_007363.5(NONO):c.107del (p.Pro36fs)
|
rs1602385860
|
|
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter)
|
rs869025345
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
NM_007363.5(NONO):c.1171+1G>T
|
rs876661316
|
|
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys)
|
rs1114167441
|
|
NM_007363.5(NONO):c.1394dup (p.Asn466fs)
|
rs869025344
|
|
NM_007363.5(NONO):c.154+1GT[2]
|
|
|
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)
|
rs2148033408
|
|
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
|
rs2148033495
|
|
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
|
|
|
NM_007363.5(NONO):c.457C>T (p.Arg153Ter)
|
rs2031389522
|
|
NM_007363.5(NONO):c.550C>T (p.Arg184Ter)
|
rs1602387702
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
NM_012216.4(MID2):c.1447del (p.Ser483fs)
|
rs1602511836
|
|
NM_012280.4(FTSJ1):c.121+1del
|
|
|
NM_012280.4(FTSJ1):c.192-2A>G
|
rs1602048728
|
|
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter)
|
rs1602048836
|
|
NM_012280.4(FTSJ1):c.256del (p.Val86fs)
|
rs2061548936
|
|
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)
|
|
|
NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG
|
rs1555949612
|
|
NM_012310.5(KIF4A):c.1616T>C (p.Leu539Pro)
|
|
|
NM_012310.5(KIF4A):c.1674+1G>A
|
|
|
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His)
|
rs1045363046
|
|
NM_012310.5(KIF4A):c.763G>A (p.Asp255Asn)
|
|
|
NM_014271.4(IL1RAPL1):c.1191_1201+6del
|
|
|
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter)
|
rs122461160
|
|
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)
|
rs122461161
|
|
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)
|
rs387906707
|
|
NM_014332.3(SMPX):c.130del (p.Glu44fs)
|
rs398122848
|
|
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)
|
rs387906706
|
|
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)
|
rs387906708
|
|
NM_014332.3(SMPX):c.87dup (p.Gly30fs)
|
rs1569308571
|
|
NM_014332.3(SMPX):c.99del (p.Arg34fs)
|
rs398122930
|
|
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
|
|
|
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter)
|
rs2147123782
|
|
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)
|
rs1569261319
|
|
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs)
|
rs2092480172
|
|
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
|
|
|
NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter)
|
rs2147268813
|
|
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter)
|
rs904072058
|
|
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter)
|
rs2147283343
|
|
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs)
|
rs606231282
|
|
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs)
|
rs2147143428
|
|
NM_015107.3(PHF8):c.1880del (p.Lys627fs)
|
rs2065590491
|
|
NM_015107.3(PHF8):c.377del (p.Leu126fs)
|
rs1057518729
|
|
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)
|
rs121918523
|
|
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter)
|
rs121918522
|
|
NM_015107.3(PHF8):c.738dup (p.His247fs)
|
|
|
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser)
|
rs121918524
|
|
NM_015107.3(PHF8):c.943_946+8del
|
|
|
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)
|
rs122468178
|
|
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser)
|
rs122468179
|
|
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)
|
rs122468177
|
|
NM_015884.4(MBTPS2):c.671-9T>G
|
rs587777305
|
|
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu)
|
rs122468180
|
|
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)
|
rs122468176
|
|
NM_016032.4(ZDHHC9):c.167+5G>C
|
rs606231183
|
|
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs)
|
rs606231182
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_016032.4(ZDHHC9):c.361C>T (p.Arg121Ter)
|
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser)
|
rs137852215
|
|
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)
|
rs786205133
|
|
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)
|
rs1569309816
|
|
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)
|
rs1569309776
|
|
NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg)
|
rs1569309474
|
|
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)
|
rs1569309460
|
|
NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys)
|
rs1569309459
|
|
NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys)
|
rs1569309449
|
|
NM_016937.3(POLA1):c.445_507del
|
rs1569277866
|
|
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp)
|
rs782191163
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu)
|
rs1555988417
|
|
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)
|
rs2067071714
|
|
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)
|
rs121434621
|
|
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)
|
rs104894912
|
|
NM_020922.5(WNK3):c.1089+1G>A
|
|
|
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
|
|
|
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
|
|
|
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
|
|
|
NM_021120.4(DLG3):c.-8dup
|
|
|
NM_021120.4(DLG3):c.1092dup (p.Thr365fs)
|
rs398122846
|
|
NM_021120.4(DLG3):c.1302+1G>A
|
rs1373474125
|
|
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter)
|
rs398122847
|
|
NM_021120.4(DLG3):c.2266C>T (p.Arg756Ter)
|
rs2147892965
|
|
NM_021120.4(DLG3):c.357+1G>C
|
rs587777359
|
|
NM_021120.4(DLG3):c.985+1G>C
|
rs587777360
|
|
NM_021120.4(DLG3):c.985+5G>A
|
rs2147771642
|
|
NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter)
|
rs1556220029
|
|
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del)
|
rs2053171807
|
|
NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter)
|
rs1188300105
|
|
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)
|
rs62637027
|
|
NM_023934.4(FUNDC2):c.-2_133+51del
|
rs2073793798
|
|
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr)
|
rs1603379772
|
|
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln)
|
rs1603379318
|
|
NM_024528.4(NKAP):c.961A>G (p.Met321Val)
|
rs2147845271
|
|
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys)
|
rs1603379781
|
|
NM_024528.4(NKAP):c.989G>A (p.Arg330His)
|
rs1603379780
|
|
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)
|
rs1603379779
|
|
NM_030624.3(KLHL15):c.1179del (p.Tyr394fs)
|
rs1929024034
|
|
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)
|
rs1057518699
|
|
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly)
|
rs1173514495
|
|
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)
|
rs121918525
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln)
|
rs1569399945
|
|
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)
|
rs1556913180
|
|
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)
|
rs1556909287
|
|
NM_031407.7(HUWE1):c.145-2A>G
|
rs1569509136
|
|
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)
|
rs1557006903
|
|
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
|
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_031407.7(HUWE1):c.567+1G>C
|
rs1557024919
|
|
NM_031407.7(HUWE1):c.646-1G>A
|
rs2149065229
|
|
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)
|
rs121918526
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)
|
rs2073064247
|
|
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)
|
rs2124181878
|
|
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)
|
rs2073068605
|
|
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys)
|
rs2124163845
|
|
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
|
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val)
|
rs869025334
|
|
NM_033380.3(COL4A5):c.1033-1G>A
|
rs2066339336
|
|
NM_033380.3(COL4A5):c.1033-2A>G
|
rs2147787964
|
|
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)
|
|
|
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu)
|
rs104886096
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
|
rs2066342176
|
|
NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs)
|
rs1569492147
|
|
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys)
|
rs2066342908
|
|
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)
|
rs104886102
|
|
NM_033380.3(COL4A5):c.1340-2A>G
|
rs104886319
|
|
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)
|
rs2147798059
|
|
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs)
|
rs104886113
|
|
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter)
|
rs1603287820
|
|
NM_033380.3(COL4A5):c.141+1G>A
|
rs2065509989
|
|
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)
|
rs2147798228
|
|
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser)
|
rs281874667
|
|
NM_033380.3(COL4A5):c.1424-20T>A
|
rs281874668
|
|
NM_033380.3(COL4A5):c.1424-2A>C
|
rs759179999
|
|
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
|
|
|
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)
|
rs1556411631
|
|
NM_033380.3(COL4A5):c.153del (p.Pro53fs)
|
rs2147722166
|
|
NM_033380.3(COL4A5):c.1545_1546del (p.Glu516fs)
|
rs2147809078
|
|
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys)
|
rs104886121
|
|
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp)
|
rs104886122
|
|
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp)
|
rs281874671
|
|
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
|
|
|
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp)
|
rs104886043
|
|
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)
|
rs1603290131
|
|
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
|
rs1603290148
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)
|
|
|
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter)
|
rs368137679
|
|
NM_033380.3(COL4A5):c.1780-1G>T
|
rs104886338
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu)
|
rs2147813326
|
|
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg)
|
rs1569494304
|
|
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val)
|
rs104886142
|
|
NM_033380.3(COL4A5):c.188dup (p.Phe64fs)
|
rs1603276159
|
|
NM_033380.3(COL4A5):c.1902del (p.Gly635fs)
|
rs1603290763
|
|
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser)
|
rs104886147
|
|
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)
|
rs1603290796
|
|
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs)
|
rs1603291770
|
|
NM_033380.3(COL4A5):c.1A>G (p.Met1Val)
|
rs104886050
|
|
NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs)
|
rs2147819501
|
|
NM_033380.3(COL4A5):c.2039del (p.Pro680fs)
|
rs2066627184
|
|
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg)
|
rs1603292021
|
|
NM_033380.3(COL4A5):c.2048del (p.Pro683fs)
|
rs1060499694
|
|
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)
|
rs104886167
|
|
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)
|
rs2147820991
|
|
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser)
|
rs104886161
|
|
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)
|
rs104886163
|
|
NM_033380.3(COL4A5):c.2244+1G>T
|
rs281874688
|
|
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
|
|
|
NM_033380.3(COL4A5):c.225del (p.Gln76fs)
|
rs1603276180
|
|
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)
|
rs281874689
|
|
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs)
|
rs1603293553
|
|
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)
|
rs1603293570
|
|
NM_033380.3(COL4A5):c.232-2A>G
|
rs2065933012
|
|
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
|
rs2066736770
|
|
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg)
|
rs1603293605
|
|
NM_033380.3(COL4A5):c.2395+1G>A
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2395+2T>A
|
rs1603293639
|
|
NM_033380.3(COL4A5):c.2396-1G>C
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)
|
rs281874696
|
|
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val)
|
rs2147850123
|
|
NM_033380.3(COL4A5):c.2509+2T>G
|
rs1569497030
|
|
NM_033380.3(COL4A5):c.2510-1G>T
|
rs770451831
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val)
|
rs1603297334
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)
|
rs869025332
|
|
NM_033380.3(COL4A5):c.2766del (p.Gly923fs)
|
rs886039890
|
|
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)
|
rs104886195
|
|
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)
|
rs2147865716
|
|
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
|
rs2067083148
|
|
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
|
|
|
NM_033380.3(COL4A5):c.2917+1G>A
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2917+2T>A
|
|
|
NM_033380.3(COL4A5):c.2918-1G>A
|
rs104886372
|
|
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter)
|
rs2147869275
|
|
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys)
|
rs1569469409
|
|
NM_033380.3(COL4A5):c.3016+1G>A
|
|
|
NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)
|
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)
|
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs)
|
rs2067151490
|
|
NM_033380.3(COL4A5):c.311del (p.Pro104fs)
|
rs1603278993
|
|
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs)
|
rs1569499015
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter)
|
rs104886213
|
|
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)
|
rs104886219
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)
|
rs281874712
|
|
NM_033380.3(COL4A5):c.321+2T>G
|
rs1603279005
|
|
NM_033380.3(COL4A5):c.322-1G>T
|
rs104886375
|
|
NM_033380.3(COL4A5):c.3247-1G>A
|
rs1569504056
|
|
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs)
|
rs1603306718
|
|
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter)
|
rs1556439394
|
|
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)
|
rs104886225
|
|
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter)
|
rs104886225
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp)
|
rs104886229
|
|
NM_033380.3(COL4A5):c.3455-9A>G
|
rs104886388
|
|
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter)
|
rs1603310370
|
|
NM_033380.3(COL4A5):c.347del (p.Pro116fs)
|
rs2147746687
|
|
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg)
|
rs104886235
|
|
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu)
|
rs1603310380
|
|
NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs)
|
rs1057516187
|
|
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter)
|
rs2068084185
|
|
NM_033380.3(COL4A5):c.3604+2T>A
|
rs1569505613
|
|
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)
|
rs1569505758
|
|
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)
|
rs1290001124
|
|
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
|
rs104886255
|
|
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)
|
rs104886261
|
|
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser)
|
rs1603311030
|
|
NM_033380.3(COL4A5):c.3791-41A>G
|
|
|
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)
|
rs1556451235
|
|
NM_033380.3(COL4A5):c.385-716G>A
|
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs)
|
rs2068332131
|
|
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs)
|
rs2147975121
|
|
NM_033380.3(COL4A5):c.4016-1G>A
|
rs797045035
|
|
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)
|
rs2147980448
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4088-2A>G
|
|
|
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
|
rs2068436110
|
|
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs)
|
rs1603318154
|
|
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs)
|
rs1603318143
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.4316-1G>T
|
rs281874734
|
|
NM_033380.3(COL4A5):c.4316-20T>A
|
rs2068567564
|
|
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg)
|
rs104886276
|
|
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)
|
rs1603323174
|
|
NM_033380.3(COL4A5):c.438+1G>A
|
rs1603279819
|
|
NM_033380.3(COL4A5):c.439-1G>A
|
rs2147754967
|
|
NM_033380.3(COL4A5):c.4432del (p.Asp1478fs)
|
|
|
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)
|
rs1603323278
|
|
NM_033380.3(COL4A5):c.446del (p.Pro149fs)
|
rs104886054
|
|
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter)
|
rs1603323355
|
|
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)
|
rs2147991725
|
|
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs)
|
rs1603326397
|
|
NM_033380.3(COL4A5):c.4628dup (p.Tyr1543Ter)
|
rs2147998586
|
|
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.465+1G>A
|
rs2066070056
|
|
NM_033380.3(COL4A5):c.465+2T>G
|
rs2066070104
|
|
NM_033380.3(COL4A5):c.4706+1G>T
|
rs1569508998
|
|
NM_033380.3(COL4A5):c.4706+2T>C
|
rs2147998807
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)
|
rs1603328025
|
|
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs)
|
rs1057516203
|
|
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)
|
rs2148001657
|
|
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)
|
rs1569509234
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4822-10T>C
|
|
|
NM_033380.3(COL4A5):c.4822-1G>T
|
rs1603328372
|
|
NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs)
|
rs886039886
|
|
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs)
|
rs2068717187
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs)
|
rs2148002538
|
|
NM_033380.3(COL4A5):c.4994+1G>A
|
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)
|
rs104886306
|
|
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.546+1G>A
|
rs104886429
|
|
NM_033380.3(COL4A5):c.546+2T>G
|
rs2066101487
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
|
|
|
NM_033380.3(COL4A5):c.569_570del (p.Ile190fs)
|
rs1556405010
|
|
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.609+1G>A
|
rs104886434
|
|
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp)
|
rs104886063
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)
|
rs2066183255
|
|
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)
|
rs281874761
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.687del (p.Gly230fs)
|
rs1556405926
|
|
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
|
rs104886443
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.82-1G>A
|
|
|
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser)
|
rs869025333
|
|
NM_033380.3(COL4A5):c.834+2T>G
|
rs1569490932
|
|
NM_033380.3(COL4A5):c.835-2A>G
|
rs1556406859
|
|
NM_033380.3(COL4A5):c.835-9T>A
|
|
|
NM_033380.3(COL4A5):c.845dup (p.Gly283fs)
|
rs2147776527
|
|
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)
|
rs104886450
|
|
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.875del (p.Gly292fs)
|
rs281874768
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.917del (p.Asn306fs)
|
rs2066237678
|
|
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu)
|
rs104886091
|
|
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)
|
rs2147783395
|
|
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)
|
rs122468181
|
|
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)
|
rs1556377028
|
|
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
|
|
|
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp)
|
rs122468182
|
|
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)
|
rs1603371016
|
|
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)
|
rs2147787331
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)
|
rs1064794254
|
|
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs)
|
rs1603370185
|
|
NM_139058.2(ARX):c.304_305ins21 (p.?)
|
|
|
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)
|
rs104894741
|
|
NM_139058.3(ARX):c.1096del (p.Asp366fs)
|
rs797045289
|
|
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
|
rs587783182
|
|
NM_139058.3(ARX):c.1111del (p.Arg371fs)
|
|
|
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)
|
rs104894740
|
|
NM_139058.3(ARX):c.1120-2A>G
|
rs2147320644
|
|
NM_139058.3(ARX):c.1120-82_1469dup
|
|
|
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)
|
rs2147320638
|
|
NM_139058.3(ARX):c.1141del (p.Ala381fs)
|
rs1556049694
|
|
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
|
|
|
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
|
rs797045290
|
|
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
|
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
|
|
|
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)
|
rs2048682045
|
|
NM_139058.3(ARX):c.1337dup (p.Pro447fs)
|
rs797045291
|
|
NM_139058.3(ARX):c.1372del (p.Ala458fs)
|
rs587783187
|
|
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
|
rs587783189
|
|
NM_139058.3(ARX):c.1443dup (p.Gly482fs)
|
rs2147320305
|
|
NM_139058.3(ARX):c.1449-82_1469dup
|
rs1556046904
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)
|
rs797045292
|
|
NM_139058.3(ARX):c.1471dup (p.Leu491fs)
|
rs797045292
|
|
NM_139058.3(ARX):c.1497del (p.Leu500fs)
|
|
|
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
|
|
|
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)
|
rs1601945655
|
|
NM_139058.3(ARX):c.1559del (p.Pro520fs)
|
|
|
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)
|
rs1601945626
|
|
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
|
|
|
NM_139058.3(ARX):c.232G>T (p.Glu78Ter)
|
rs267606666
|
|
NM_139058.3(ARX):c.26dup (p.Cys10fs)
|
rs2147325489
|
|
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)
|
rs2147324381
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)
|
rs1365611175
|
|
NM_139058.3(ARX):c.335_368del (p.Ala112fs)
|
rs587783199
|
|
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
|
|
|
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
|
|
|
NM_139058.3(ARX):c.409del (p.Glu137fs)
|
|
|
NM_139058.3(ARX):c.409dup (p.Glu137fs)
|
rs797045298
|
|
NM_139058.3(ARX):c.424_455del (p.Ala142fs)
|
rs2147324181
|
|
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)
|
rs1556056154
|
|
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)
|
rs387906493
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
|
|
|
NM_139058.3(ARX):c.502_503dup (p.Ser168fs)
|
rs2147324110
|
|
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)
|
rs1601948603
|
|
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
|
rs797045303
|
|
NM_139058.3(ARX):c.590dup (p.Val198fs)
|
|
|
NM_139058.3(ARX):c.617del (p.Gly206fs)
|
rs587783202
|
|
NM_139058.3(ARX):c.642_645del (p.Pro215fs)
|
rs2147323943
|
|
NM_139058.3(ARX):c.790del (p.Arg264fs)
|
rs886043552
|
|
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)
|
rs2048708701
|
|
NM_139058.3(ARX):c.98T>C (p.Leu33Pro)
|
rs28936077
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_139058.3(ARX):c.995G>A (p.Arg332His)
|
rs111033612
|
|
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
|
rs111033612
|
|
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)
|
rs104893740
|
|
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
|
rs786205854
|
|
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)
|
rs786205853
|
|
NM_145200.3(CABP4):c.800_801delAG
|
rs786205249
|
|
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)
|
rs745382789
|
|
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)
|
rs1590998813
|
|
NM_145200.5(CABP4):c.65del (p.Pro22fs)
|
rs775166854
|
|
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)
|
rs786205852
|
|
NM_153252.5(BRWD3):c.2864C>G (p.Ala955Gly)
|
|
|
NM_153252.5(BRWD3):c.3200_3201del (p.Val1067fs)
|
rs1602311804
|
|
NM_153252.5(BRWD3):c.3325+1G>T
|
rs730882185
|
|
NM_153252.5(BRWD3):c.3413G>T (p.Trp1138Leu)
|
rs2147693460
|
|
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter)
|
rs878853055
|
|
NM_153252.5(BRWD3):c.3976C>T (p.Arg1326Ter)
|
rs866592729
|
|
NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu)
|
rs137853272
|
|
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter)
|
rs1057518650
|
|
NM_153252.5(BRWD3):c.828_829dup (p.Lys277fs)
|
|
|
NM_153252.5(BRWD3):c.946dup (p.Arg316fs)
|
rs730882186
|
|
NM_171998.4(RAB39B):c.215+1G>A
|
rs587776734
|
|
NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter)
|
rs267606995
|
|
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)
|
rs587777874
|
|
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter)
|
rs1557314191
|
|
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)
|
rs864309527
|
|
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs)
|
rs1569118680
|
|
NM_181672.3(OGT):c.1016A>G (p.Glu339Gly)
|
rs1602147880
|
|
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr)
|
rs1602152230
|
|
NM_181672.3(OGT):c.463-6T>G
|
rs943295842
|
|
NM_181672.3(OGT):c.762G>C (p.Leu254Phe)
|
rs1131692155
|
|
NM_181672.3(OGT):c.762G>T (p.Leu254Phe)
|
rs1131692155
|
|
NM_181672.3(OGT):c.775G>A (p.Ala259Thr)
|
rs797044898
|
|
NM_181672.3(OGT):c.851G>C (p.Arg284Pro)
|
rs1114167891
|
|
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)
|
rs397509380
|
|
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)
|
rs2125900955
|
|
NM_201599.3(ZMYM3):c.1332G>A (p.Lys444=)
|
|
|
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys)
|
rs879255361
|
|
NM_203475.3(PORCN):c.1023+2T>A
|
rs1556975151
|
|
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs)
|
rs587776737
|
|
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
|
|
|
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)
|
rs2061714949
|
|
NM_203475.3(PORCN):c.137-1G>C
|
|
|
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)
|
rs267606973
|
|
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)
|
rs137852219
|
|
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)
|
rs1114167283
|
|
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)
|
rs1602070472
|
|
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)
|
rs137852218
|
|
NM_203475.3(PORCN):c.374-2A>G
|
rs2147123496
|
|
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)
|
rs2061661681
|
|
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
|
|
|
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
|
|
|
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)
|
rs2061661896
|
|
NM_203475.3(PORCN):c.846-2A>G
|
|
|
NM_203475.3(PORCN):c.946+2_946+3del
|
rs2147131642
|
|
NR0B1, 1-BP INS, 430G
|
|
|
PHEX, A-G, NT-429
|
|
|
RPS6KA3, 187-BP DEL, NT406
|
|
|
Single allele
|
|
|
WAS, 15,800-BP DEL
|
|
|
t(X;19)(p21.2;q13.41)dn
|
|
|
t(X;3)(q13.3;q11.2)dn
|
|
|