NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
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_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_003784.4(SERPINB7):c.522dup (p.Val175fs)
|
rs672601344
|
0.00009
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_002035.4(KDSR):c.879G>A (p.Gln293=)
|
rs752611378
|
0.00006
|
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)
|
rs121908318
|
0.00006
|
NM_020427.3(SLURP1):c.82del (p.Cys28fs)
|
rs587776601
|
0.00006
|
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)
|
rs148182439
|
0.00006
|
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter)
|
rs199555021
|
0.00005
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
|
rs200177031
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)
|
rs398123054
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_003784.4(SERPINB7):c.455-1G>A
|
rs577442939
|
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_020427.3(SLURP1):c.256G>A (p.Gly86Arg)
|
rs28937888
|
0.00003
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)
|
rs368292687
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg)
|
rs1268725013
|
0.00002
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
NM_025216.3(WNT10A):c.376+1G>A
|
rs561503117
|
0.00002
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)
|
rs57758262
|
0.00001
|
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)
|
rs267607391
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)
|
rs1160266009
|
0.00001
|
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)
|
rs104894211
|
0.00001
|
NM_001814.6(CTSC):c.1A>G (p.Met1Val)
|
rs886048742
|
0.00001
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg)
|
rs1114167450
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
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_004782.4(SNAP29):c.2T>C (p.Met1Thr)
|
rs886041240
|
0.00001
|
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr)
|
rs121908320
|
0.00001
|
NM_022121.5(PERP):c.112del (p.Ser38fs)
|
rs769404975
|
0.00001
|
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)
|
rs893127185
|
0.00001
|
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)
|
rs318240759
|
0.00001
|
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)
|
rs764658964
|
0.00001
|
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter)
|
rs1306584103
|
0.00001
|
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter)
|
rs1156948793
|
0.00001
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter)
|
rs377416834
|
0.00001
|
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)
|
rs1434390821
|
0.00001
|
NM_025216.3(WNT10A):c.932del (p.Glu311fs)
|
rs1559416138
|
0.00001
|
NC_000002.11:g.(?_219745708)_(219747155_?)del
|
|
|
NC_000002.11:g.(?_219745718)_(219757993_?)del
|
|
|
NC_000002.12:g.(?_218880976)_(218893291_?)del
|
|
|
NC_000011.9:g.(?_88045475)_(88071056_?)del
|
|
|
NC_000013.10:g.(?_20797176)_21105944del
|
|
|
NC_000022.10:g.29758984_29815476del
|
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)
|
rs1554200992
|
|
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)
|
rs794729675
|
|
NM_000165.5(GJA1):c.23G>T (p.Gly8Val)
|
rs864309644
|
|
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp)
|
rs875989815
|
|
NM_000226.4(KRT9):c.469A>G (p.Met157Val)
|
rs58597584
|
|
NM_000226.4(KRT9):c.470T>C (p.Met157Thr)
|
rs59510579
|
|
NM_000226.4(KRT9):c.478C>G (p.Leu160Val)
|
rs28940896
|
|
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)
|
rs28940896
|
|
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr)
|
rs59296273
|
|
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)
|
rs56707768
|
|
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile)
|
rs56707768
|
|
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
|
rs57536312
|
|
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)
|
rs59616921
|
|
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser)
|
rs61157095
|
|
NM_000226.4(KRT9):c.511G>A (p.Val171Met)
|
rs57019720
|
|
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro)
|
rs59878153
|
|
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
|
|
|
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)
|
|
|
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)
|
rs886041212
|
|
NM_000526.5(KRT14):c.17del (p.Arg6fs)
|
rs267607390
|
|
NM_000526.5(KRT14):c.374G>A (p.Arg125His)
|
rs58330629
|
|
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)
|
rs60831116
|
|
NM_001033053.2(NLRP1):c.2358-?_2528+?del
|
|
|
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)
|
rs104894416
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)
|
rs2147978539
|
|
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)
|
rs1334834057
|
|
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)
|
rs1602683532
|
|
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)
|
rs780548317
|
|
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
|
|
|
NM_001127.4(AP1B1):c.38-1G>A
|
rs1602761438
|
|
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)
|
rs1602749299
|
|
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)
|
rs2147995205
|
|
NM_001242908.2(RSPO1):c.-288-413_94+1957del
|
|
|
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)
|
rs2148163144
|
|
NM_001382267.1(SERPINA12):c.1051G>T (p.Glu351Ter)
|
|
|
NM_001382267.1(SERPINA12):c.631C>T (p.Arg211Ter)
|
|
|
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)
|
rs398123055
|
|
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)
|
rs398123057
|
|
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)
|
rs398123056
|
|
NM_001814.6(CTSC):c.-55C>A
|
|
|
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
|
|
|
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
|
|
|
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
|
|
|
NM_001814.6(CTSC):c.1096del (p.His366fs)
|
|
|
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
|
|
|
NM_001814.6(CTSC):c.1141del (p.Leu381fs)
|
rs772132996
|
|
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
|
|
|
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
|
|
|
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
|
|
|
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
|
|
|
NM_001814.6(CTSC):c.124del (p.Gln42fs)
|
|
|
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
|
|
|
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
|
|
|
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
|
|
|
NM_001814.6(CTSC):c.189dup (p.Val64fs)
|
|
|
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
|
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001814.6(CTSC):c.21del (p.Leu7fs)
|
|
|
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
|
|
|
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
|
|
|
NM_001814.6(CTSC):c.319-1G>A
|
|
|
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
|
|
|
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
|
|
|
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
|
|
|
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
|
|
|
NM_001814.6(CTSC):c.407del (p.Cys136fs)
|
|
|
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
|
|
|
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
|
|
|
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
|
|
|
NM_001814.6(CTSC):c.436del (p.Ser146fs)
|
|
|
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
|
|
|
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
|
|
|
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
|
|
|
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
|
|
|
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
|
|
|
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
|
|
|
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
|
|
|
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
|
|
|
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
|
|
|
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
|
|
|
NM_001814.6(CTSC):c.622_628del (p.His208fs)
|
|
|
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
|
|
|
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
|
|
|
NM_001814.6(CTSC):c.706del (p.Asp236fs)
|
|
|
NM_001814.6(CTSC):c.725del (p.Gly242fs)
|
|
|
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
|
|
|
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
|
|
|
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)
|
rs104894207
|
|
NM_001814.6(CTSC):c.783del (p.Phe261fs)
|
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
|
|
|
NM_001814.6(CTSC):c.857del (p.Gln286fs)
|
|
|
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
|
|
|
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
|
|
|
NM_001814.6(CTSC):c.889+1G>A
|
|
|
NM_001814.6(CTSC):c.890-1G>A
|
|
|
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
|
|
|
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
|
|
|
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
|
|
|
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
|
|
|
NM_001814.6(CTSC):c.[1211delA;190_191insA]
|
|
|
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
|
|
|
NM_001942.4(DSG1):c.1079dup (p.Ile361fs)
|
rs398122949
|
|
NM_001942.4(DSG1):c.121dup (p.Trp41fs)
|
rs398122951
|
|
NM_001942.4(DSG1):c.1628del (p.Asn543fs)
|
rs398122950
|
|
NM_001942.4(DSG1):c.395C>A (p.Ser132Ter)
|
rs2144091452
|
|
NM_001942.4(DSG1):c.430A>T (p.Arg144Ter)
|
rs397515641
|
|
NM_001942.4(DSG1):c.601C>T (p.Gln201Ter)
|
rs397515640
|
|
NM_001942.4(DSG1):c.724C>T (p.Arg242Ter)
|
rs568609861
|
|
NM_001942.4(DSG1):c.76C>T (p.Arg26Ter)
|
rs397515639
|
|
NM_001942.4(DSG1):c.85-1G>A
|
rs1568039793
|
|
NM_002035.4(KDSR):c.256-2A>C
|
rs1114167451
|
|
NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe)
|
rs1114167452
|
|
NM_002282.3(KRT83):c.811del (p.Ser271fs)
|
rs753293188
|
|
NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs)
|
rs797044479
|
|
NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs)
|
rs534014297
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)
|
rs28931594
|
|
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys)
|
rs104894412
|
|
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)
|
rs104894410
|
|
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)
|
rs104894410
|
|
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)
|
rs104894404
|
|
NM_004004.6(GJB2):c.218A>G (p.His73Arg)
|
rs121912968
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
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.34G>C (p.Gly12Arg)
|
rs104894408
|
|
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.50C>T (p.Ser17Phe)
|
rs28929485
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)
|
rs879253741
|
|
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_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004782.4(SNAP29):c.223del (p.Val75fs)
|
rs869312906
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004782.4(SNAP29):c.487dup (p.Ser163fs)
|
rs387907363
|
|
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)
|
rs1064795236
|
|
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del)
|
rs60447237
|
|
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile)
|
rs57977969
|
|
NM_006121.4(KRT1):c.591+2T>A
|
rs267607424
|
|
NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met)
|
rs1278993777
|
|
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr)
|
rs1369949906
|
|
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
|
|
|
NM_020127.3(TUFT1):c.60+1G>A
|
|
|
NM_020159.5(SMARCAD1):c.1281+649_1281+666del
|
rs1560542180
|
|
NM_020159.5(SMARCAD1):c.1281+666T>C
|
rs1114167276
|
|
NM_020159.5(SMARCAD1):c.1281+666dup
|
rs1560542214
|
|
NM_020427.3(SLURP1):c.178+1G>A
|
rs587776602
|
|
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu)
|
rs28937889
|
|
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)
|
|
|
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg)
|
rs121908319
|
|
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)
|
|
|
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)
|
rs28937888
|
|
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)
|
rs121908317
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020751.3(COG6):c.252del (p.Ala85fs)
|
rs2137942150
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_022121.5(PERP):c.466G>A (p.Gly156Arg)
|
rs1775596006
|
|
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)
|
rs28937583
|
|
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)
|
rs74315321
|
|
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)
|
rs74315317
|
|
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)
|
rs74315315
|
|
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)
|
rs74315316
|
|
NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)
|
|
|
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
|
|
|
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
|
|
|
NM_025216.3(WNT10A):c.1063del (p.Ala355fs)
|
rs2106018668
|
|
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
|
|
|
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs)
|
rs2106018717
|
|
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly)
|
rs1487577386
|
|
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)
|
rs121908122
|
|
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs)
|
rs1944678383
|
|
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter)
|
rs750260671
|
|
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter)
|
rs1553623389
|
|
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr)
|
rs1575235227
|
|
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
|
|
|
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
|
|
|
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)
|
rs1221516695
|
|
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
|
|
|
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter)
|
rs121908123
|
|
NM_025216.3(WNT10A):c.295del (p.Gln99fs)
|
rs2106011673
|
|
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter)
|
rs886055642
|
|
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter)
|
rs2106011732
|
|
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
|
|
|
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
|
|
|
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
|
|
|
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
|
|
|
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)
|
rs543063101
|
|
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter)
|
rs561173643
|
|
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs)
|
rs2106016170
|
|
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
|
|
|
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs)
|
rs2106016227
|
|
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
|
|
|
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs)
|
rs2106010718
|
|
NM_025216.3(WNT10A):c.574del (p.Val192fs)
|
|
|
NM_025216.3(WNT10A):c.580del (p.Glu194fs)
|
rs2106016293
|
|
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
|
|
|
NM_025216.3(WNT10A):c.648del (p.Asp217fs)
|
rs2106016375
|
|
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
|
|
|
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
|
|
|
NM_025216.3(WNT10A):c.694del (p.Arg232fs)
|
rs1575233692
|
|
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
|
|
|
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)
|
rs121908118
|
|
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
|
|
|
NM_025216.3(WNT10A):c.717del (p.His239fs)
|
rs1944636041
|
|
NM_025216.3(WNT10A):c.756+1G>A
|
rs1944637150
|
|
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter)
|
rs886039454
|
|
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
|
|
|
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)
|
rs773036759
|
|
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser)
|
rs1011303295
|
|
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter)
|
rs1332945612
|
|
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter)
|
rs2106018205
|
|
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
|
|
|
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs)
|
rs2106018239
|
|
NM_025216.3(WNT10A):c.85del (p.Leu29fs)
|
rs781237311
|
|
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs)
|
rs1553623281
|
|
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs)
|
rs1371718238
|
|
NM_025216.3(WNT10A):c.909_916del (p.His303fs)
|
rs1944671913
|
|
NM_025216.3(WNT10A):c.932dup (p.Pro312fs)
|
rs2106018397
|
|
NM_025216.3(WNT10A):c.949del (p.Ala317fs)
|
rs775990266
|
|
NM_025216.3(WNT10A):c.949dup (p.Ala317fs)
|
rs775990266
|
|
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
|
|
|
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
|
|
|
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
|
|
|
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
|
|
|
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs)
|
rs1203128182
|
|
NM_025216.3(WNT10A):c.993del (p.Ser332fs)
|
rs2106018559
|
|
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)
|
|
|
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
|
|
|
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)
|
rs1057519492
|
|
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)
|
rs1057519493
|
|
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)
|
rs397514692
|
|
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)
|
rs80358210
|
|
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp)
|
rs80358211
|
|
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu)
|
rs80358207
|
|
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu)
|
rs80358206
|
|
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr)
|
rs80358213
|
|
NM_153212.3(GJB4):c.65G>A (p.Arg22His)
|
rs80358212
|
|