ClinVar Miner

List of variants studied for diffuse palmoplantar keratoderma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 774
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_004782.4(SNAP29):c.*2816A>G rs165739 0.84087
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_000226.4(KRT9):c.195C>T (p.Gly65=) rs8070680 0.66728
NM_000226.4(KRT9):c.726-9G>T rs3816510 0.55106
NM_000226.4(KRT9):c.1407A>T (p.Gly469=) rs3890472 0.53384
NM_004782.4(SNAP29):c.-19C>T rs1061063 0.50257
NM_004782.4(SNAP29):c.*1563T>G rs11577 0.49742
NM_024009.3(GJB3):c.*53G>A rs476220 0.49114
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064 0.44050
NM_004782.4(SNAP29):c.*420A>G rs178077 0.38814
NM_004782.4(SNAP29):c.*2961T>C rs165715 0.38730
NM_004782.4(SNAP29):c.*1129T>C rs165801 0.38697
NM_004782.4(SNAP29):c.*1519T>C rs165861 0.37966
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_001110219.3(GJB6):c.*337G>T rs7333214 0.23835
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) rs14024 0.23729
NM_024009.3(GJB3):c.*369G>C rs2236214 0.23276
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_024009.3(GJB3):c.*559G>C rs9118 0.19529
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_024009.3(GJB3):c.*43C>A rs41266429 0.11622
NM_006121.4(KRT1):c.*344C>T rs11170231 0.10595
NM_024009.3(GJB3):c.*493C>T rs13774 0.09992
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_004782.4(SNAP29):c.*123G>C rs3171741 0.06922
NM_004782.4(SNAP29):c.*2105T>G rs5752201 0.06920
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_004782.4(SNAP29):c.*1490T>C rs12168260 0.04739
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_004782.4(SNAP29):c.*2856G>A rs9625044 0.04630
NM_004004.5(GJB2):c.*1447G>A rs11839674 0.04460
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_004782.4(SNAP29):c.*521T>A rs361998 0.04056
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004782.4(SNAP29):c.*2795C>T rs9625042 0.03210
NM_004782.4(SNAP29):c.*740C>T rs79383799 0.02894
NM_006121.4(KRT1):c.75C>T (p.Ile25=) rs828367 0.02886
NM_004782.4(SNAP29):c.*3015G>A rs145199625 0.02873
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_001110219.3(GJB6):c.*301G>C rs112723181 0.02132
NM_020427.3(SLURP1):c.261C>T (p.Ala87=) rs62636564 0.01928
NM_004782.4(SNAP29):c.*2551G>A rs73162856 0.01926
NM_000226.4(KRT9):c.42C>T (p.Ser14=) rs116077803 0.01806
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) rs17678945 0.01785
NM_004415.4(DSP):c.*276_*278del rs144440643 0.01744
NM_001110219.3(GJB6):c.-105T>A rs114639494 0.01720
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_001110219.3(GJB6):c.-295-219G>A rs7333727 0.01403
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_000226.4(KRT9):c.1587T>C (p.Gly529=) rs146001104 0.01330
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_024009.3(GJB3):c.*231G>A rs72898302 0.01235
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_004782.4(SNAP29):c.-5G>A rs139884576 0.01122
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_004782.4(SNAP29):c.*2872G>A rs111581119 0.01120
NM_006121.4(KRT1):c.1506T>C (p.Ser502=) rs34154891 0.01096
NM_004782.4(SNAP29):c.*2791T>C rs187911143 0.01095
NM_004782.4(SNAP29):c.*2783C>T rs142566638 0.01086
NM_006121.4(KRT1):c.741T>C (p.Ser247=) rs56895471 0.01086
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_025216.3(WNT10A):c.817C>A (p.Leu273Ile) rs111903177 0.00958
NM_025216.3(WNT10A):c.85C>T (p.Leu29=) rs115839019 0.00957
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_025216.3(WNT10A):c.*431C>T rs77272502 0.00919
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001110219.3(GJB6):c.-295-210G>A rs61058739 0.00821
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_025216.2(WNT10A):c.-400T>G rs556182426 0.00738
NM_006121.4(KRT1):c.762G>A (p.Ser254=) rs2741155 0.00713
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001110219.3(GJB6):c.*714C>T rs76179836 0.00656
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_004782.4(SNAP29):c.*2892C>T rs546755935 0.00592
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_024009.3(GJB3):c.*626C>G rs74567877 0.00575
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_004782.4(SNAP29):c.*2879C>T rs140626919 0.00548
NM_004782.4(SNAP29):c.*2692C>T rs148419415 0.00545
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_004782.4(SNAP29):c.-68A>T rs117593372 0.00529
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_001110219.3(GJB6):c.-296+269G>A rs142230271 0.00523
NM_000226.4(KRT9):c.1045-9G>A rs144984735 0.00511
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_024009.3(GJB3):c.*218C>A rs78145978 0.00481
NM_000226.4(KRT9):c.1395-13C>T rs187834511 0.00480
NM_004782.4(SNAP29):c.*26T>C rs144082104 0.00470
NM_020427.3(SLURP1):c.*143G>A rs182887603 0.00469
NM_000226.4(KRT9):c.855G>T (p.Leu285=) rs115349045 0.00468
NM_000226.4(KRT9):c.351T>C (p.Gly117=) rs115965791 0.00458
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_004782.4(SNAP29):c.*138C>T rs375995790 0.00422
NM_025216.3(WNT10A):c.*216G>C rs552325173 0.00422
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_004782.4(SNAP29):c.*2277C>T rs115923524 0.00396
NM_000226.4(KRT9):c.510G>A (p.Lys170=) rs116096066 0.00382
NM_024009.3(GJB3):c.-407C>T rs547065589 0.00364
NM_000226.4(KRT9):c.1170+8G>T rs150892974 0.00360
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436 0.00342
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00319
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_004782.4(SNAP29):c.*2111G>T rs551094177 0.00257
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898 0.00251
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_004782.4(SNAP29):c.*2412C>T rs528779987 0.00229
NM_000226.4(KRT9):c.245G>A (p.Ser82Asn) rs148867398 0.00227
NM_004782.4(SNAP29):c.*614C>G rs192171507 0.00226
NM_004782.4(SNAP29):c.*2411T>C rs139989203 0.00216
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) rs150503977 0.00201
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00179
NM_000226.4(KRT9):c.1560C>T (p.Tyr520=) rs116616468 0.00178
NM_004782.4(SNAP29):c.*2501G>A rs112984030 0.00171
NM_004782.4(SNAP29):c.*3285G>T rs112322969 0.00170
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_004782.4(SNAP29):c.*255G>A rs187586025 0.00158
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_001110219.3(GJB6):c.-295-100C>T rs55901410 0.00153
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_006121.4(KRT1):c.113G>A (p.Arg38His) rs34787940 0.00148
NM_000226.4(KRT9):c.1125C>T (p.His375=) rs114867228 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_000226.4(KRT9):c.1120C>T (p.Arg374Trp) rs116216460 0.00134
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004782.4(SNAP29):c.-76G>A rs376809644 0.00129
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) rs77846840 0.00126
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) rs139428176 0.00126
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_000226.4(KRT9):c.948C>T (p.Gly316=) rs111424754 0.00116
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_004782.4(SNAP29):c.*61C>G rs539155980 0.00109
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006121.4(KRT1):c.*91T>C rs560913567 0.00107
NM_000226.4(KRT9):c.*181G>A rs180874109 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000226.4(KRT9):c.1290C>T (p.Ile430=) rs145501803 0.00093
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_004782.4(SNAP29):c.*242G>A rs538225254 0.00088
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004782.4(SNAP29):c.*2777G>A rs374333957 0.00087
NM_001110219.3(GJB6):c.*613T>G rs41292217 0.00086
NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) rs11170232 0.00086
NM_004782.4(SNAP29):c.*840G>C rs554942555 0.00081
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_025216.2(WNT10A):c.-312C>T rs138370318 0.00068
NM_020427.3(SLURP1):c.-7C>T rs201610070 0.00067
NM_025216.3(WNT10A):c.-123C>A rs928677784 0.00067
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_000226.4(KRT9):c.*318C>T rs573602616 0.00066
NM_001110219.3(GJB6):c.-295-227C>T rs138547643 0.00066
NM_004782.4(SNAP29):c.*1543A>C rs9613204 0.00064
NM_004782.4(SNAP29):c.*2179G>A rs553271593 0.00064
NM_001110219.3(GJB6):c.-295-129G>A rs539881427 0.00063
NM_000226.4(KRT9):c.1800C>T (p.Tyr600=) rs148193621 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_006121.4(KRT1):c.-21C>T rs189087382 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_024009.3(GJB3):c.*429G>A rs545843697 0.00061
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_004782.4(SNAP29):c.*1570T>C rs534348201 0.00053
NM_004782.4(SNAP29):c.*2028G>A rs563529946 0.00053
NM_004782.4(SNAP29):c.*1315C>G rs41277337 0.00051
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004782.4(SNAP29):c.*3014C>T rs767162203 0.00045
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_000226.4(KRT9):c.-31G>A rs376504688 0.00043
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) rs142781300 0.00041
NM_024009.3(GJB3):c.*306C>T rs1015503523 0.00041
NM_025216.3(WNT10A):c.*108G>A rs190527122 0.00040
NM_006121.4(KRT1):c.*95G>A rs144520865 0.00039
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_000226.4(KRT9):c.-57T>C rs143343698 0.00038
NM_000226.4(KRT9):c.1096A>G (p.Ser366Gly) rs114395985 0.00038
NM_000226.4(KRT9):c.*40+2del rs777438204 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_000226.4(KRT9):c.*309del rs886052909 0.00036
NM_004782.4(SNAP29):c.*1589T>C rs530035476 0.00036
NM_004782.4(SNAP29):c.*519A>T rs200263284 0.00035
NM_004782.4(SNAP29):c.*2678T>C rs537067283 0.00034
NM_004782.4(SNAP29):c.*2749A>G rs1333759236 0.00034
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720 0.00034
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004782.4(SNAP29):c.*3233A>G rs191082970 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_004782.4(SNAP29):c.*3246A>G rs149152565 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_024009.2(GJB3):c.-606T>C rs538085084 0.00031
NM_000226.4(KRT9):c.540C>A (p.Asp180Glu) rs114438618 0.00029
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_004782.4(SNAP29):c.*2052A>T rs74557072 0.00029
NM_004782.4(SNAP29):c.*822C>T rs769097170 0.00029
NM_025216.2(WNT10A):c.-341A>G rs762914440 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_001110219.3(GJB6):c.-106G>T rs555718664 0.00027
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_000226.4(KRT9):c.222C>T (p.Gly74=) rs114665757 0.00026
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004415.4(DSP):c.*47T>C rs376397291 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_004782.4(SNAP29):c.*1675C>T rs944104520 0.00024
NM_001110219.3(GJB6):c.-295-99A>C rs886050035 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_004782.4(SNAP29):c.*2039T>G rs746231023 0.00022
NM_025216.2(WNT10A):c.-149G>T rs886055641 0.00022
NM_001110219.3(GJB6):c.*192C>T rs761029974 0.00021
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_024009.3(GJB3):c.*13G>A rs368929234 0.00020
NM_000226.4(KRT9):c.697C>T (p.Arg233Cys) rs144301874 0.00019
NM_001110219.3(GJB6):c.*25C>T rs112845420 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004782.4(SNAP29):c.*6G>A rs370326257 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) rs769218372 0.00018
NM_024009.3(GJB3):c.*434G>A rs567318744 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_004782.4(SNAP29):c.*2912G>A rs886057276 0.00017
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004415.4(DSP):c.-157G>A rs886061742 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_024009.3(GJB3):c.*80G>C rs779242382 0.00016
NM_024009.3(GJB3):c.-399G>A rs141275770 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys) rs745513263 0.00014
NM_004415.4(DSP):c.*577G>A rs886061755 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004782.4(SNAP29):c.*3107C>T rs886057279 0.00013
NM_004782.4(SNAP29):c.*3193G>A rs553460221 0.00013
NM_004782.4(SNAP29):c.*991C>A rs868124207 0.00013
NM_020427.3(SLURP1):c.202G>A (p.Val68Met) rs145660272 0.00013
NM_024009.3(GJB3):c.-159T>C rs987840683 0.00013
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_000226.4(KRT9):c.*263T>C rs954998850 0.00012
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_006121.4(KRT1):c.1511-11T>C rs201036490 0.00012
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_024009.3(GJB3):c.-177G>A rs1057515477 0.00011
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) rs199980023 0.00011
NM_000226.4(KRT9):c.1519G>C (p.Gly507Arg) rs144649847 0.00010
NM_000226.4(KRT9):c.1520G>T (p.Gly507Val) rs149321431 0.00010
NM_000226.4(KRT9):c.286G>A (p.Gly96Ser) rs145530082 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_020427.3(SLURP1):c.179-3C>T rs371317832 0.00010
NM_024009.3(GJB3):c.-40G>A rs559520550 0.00010
NM_025216.2(WNT10A):c.-270G>C rs774035749 0.00010
NM_000226.4(KRT9):c.1594G>A (p.Gly532Ser) rs372549420 0.00009
NM_001110219.3(GJB6):c.-295-192A>G rs886050036 0.00009
NM_001110219.3(GJB6):c.-33G>A rs533982140 0.00009
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_000226.4(KRT9):c.-23A>G rs753666153 0.00008
NM_000226.4(KRT9):c.1021A>G (p.Ile341Val) rs201833191 0.00008
NM_000226.4(KRT9):c.250A>G (p.Ser84Gly) rs563000405 0.00008
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_024009.3(GJB3):c.*670C>A rs1004646950 0.00008
NM_025216.3(WNT10A):c.*128T>C rs1054630 0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004782.4(SNAP29):c.*1061C>T rs557600796 0.00007
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 0.00007
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_000226.4(KRT9):c.1336C>T (p.Arg446Trp) rs201551901 0.00006
NM_000226.4(KRT9):c.437G>A (p.Gly146Asp) rs115534630 0.00006
NM_001110219.3(GJB6):c.-296+210C>A rs886050039 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997 0.00006
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_020427.3(SLURP1):c.141C>T (p.Asp47=) rs757855735 0.00006
NM_020427.3(SLURP1):c.82del (p.Cys28fs) rs587776601 0.00006
NM_024009.3(GJB3):c.*191C>T rs541330173 0.00006
NM_024009.3(GJB3):c.*75del rs1057515478 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_000226.4(KRT9):c.72C>T (p.Ser24=) rs369925340 0.00005
NM_001110219.3(GJB6):c.-149G>A rs886050032 0.00005
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004782.4(SNAP29):c.*624C>T rs372543595 0.00005
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_000226.4(KRT9):c.*123T>C rs1444464733 0.00004
NM_000226.4(KRT9):c.1069T>C (p.Ser357Pro) rs146440373 0.00004
NM_000226.4(KRT9):c.1126G>A (p.Gly376Ser) rs200211641 0.00004
NM_000226.4(KRT9):c.1797C>T (p.Ser599=) rs754967566 0.00004
NM_000226.4(KRT9):c.1839C>T (p.Tyr613=) rs142173628 0.00004
NM_000226.4(KRT9):c.291T>C (p.Phe97=) rs376830738 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004782.4(SNAP29):c.*210A>C rs1015563368 0.00004
NM_004782.4(SNAP29):c.*2280G>A rs543535379 0.00004
NM_004782.4(SNAP29):c.*2364A>G rs1342371584 0.00004
NM_004782.4(SNAP29):c.*3156G>A rs1243774895 0.00004
NM_006121.4(KRT1):c.*372G>A rs886049633 0.00004
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_020427.3(SLURP1):c.*10G>A rs201974695 0.00004
NM_020427.3(SLURP1):c.10C>T (p.Arg4Cys) rs267601807 0.00004
NM_024009.3(GJB3):c.-18C>T rs371413520 0.00004
NM_024009.3(GJB3):c.-307T>C rs764352147 0.00004
NM_024009.3(GJB3):c.-477T>C rs1047993530 0.00004
NM_024009.3(GJB3):c.61G>A (p.Gly21Arg) rs749654470 0.00004
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln) rs751280813 0.00004
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331 0.00004
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) rs886055644 0.00004
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) rs144212422 0.00004
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) rs759718991 0.00004
NM_025216.3(WNT10A):c.498C>T (p.Asp166=) rs143463683 0.00004
NM_000226.4(KRT9):c.-50C>T rs768450433 0.00003
NM_000226.4(KRT9):c.347G>A (p.Gly116Asp) rs746202552 0.00003
NM_001110219.3(GJB6):c.-122T>C rs886050031 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004782.4(SNAP29):c.*496C>G rs1389874859 0.00003
NM_004782.4(SNAP29):c.-40T>G rs886057263 0.00003
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn) rs752535047 0.00003
NM_006121.4(KRT1):c.257G>A (p.Arg86His) rs886049637 0.00003
NM_020427.3(SLURP1):c.125G>A (p.Arg42His) rs142285553 0.00003
NM_020427.3(SLURP1):c.158C>T (p.Thr53Met) rs752253252 0.00003
NM_024009.3(GJB3):c.-231G>A rs1057515551 0.00003
NM_024009.3(GJB3):c.186C>T (p.Asn62=) rs373186826 0.00003
NM_025216.3(WNT10A):c.*115C>T rs886055646 0.00003
NM_025216.3(WNT10A):c.420C>T (p.Gly140=) rs148979463 0.00003
NM_000226.4(KRT9):c.121G>A (p.Gly41Ser) rs201530335 0.00002
NM_000226.4(KRT9):c.1394T>G (p.Phe465Cys) rs753893753 0.00002
NM_000226.4(KRT9):c.1549G>A (p.Gly517Arg) rs201495509 0.00002
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004782.4(SNAP29):c.*2712G>A rs1158159445 0.00002
NM_004782.4(SNAP29):c.*3268T>C rs1055312902 0.00002
NM_004782.4(SNAP29):c.*3284G>T rs948903807 0.00002
NM_004782.4(SNAP29):c.*507A>C rs1929072766 0.00002
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_020427.3(SLURP1):c.*146G>A rs587600192 0.00002
NM_025216.2(WNT10A):c.-285C>T rs886055636 0.00002
NM_025216.3(WNT10A):c.*15C>T rs886055645 0.00002
NM_025216.3(WNT10A):c.377-11T>C rs369995297 0.00002
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp) rs193098360 0.00002
NM_000226.4(KRT9):c.*103C>G rs886052911 0.00001
NM_000226.4(KRT9):c.*225T>C rs1039328870 0.00001
NM_000226.4(KRT9):c.*230T>C rs886052910 0.00001
NM_000226.4(KRT9):c.*275A>C rs1906858213 0.00001
NM_000226.4(KRT9):c.1119C>T (p.Leu373=) rs537282263 0.00001
NM_000226.4(KRT9):c.1275C>T (p.Asp425=) rs781603266 0.00001
NM_000226.4(KRT9):c.1457G>A (p.Gly486Glu) rs749465914 0.00001
NM_000226.4(KRT9):c.212A>G (p.Tyr71Cys) rs1350886851 0.00001
NM_001110219.3(GJB6):c.*559C>T rs886050029 0.00001
NM_001110219.3(GJB6):c.-26A>G rs886050030 0.00001
NM_001110219.3(GJB6):c.-295-278G>A rs573703525 0.00001
NM_001110219.3(GJB6):c.-296+283T>C rs886050037 0.00001
NM_001110219.3(GJB6):c.-35T>A rs534287605 0.00001
NM_001110219.3(GJB6):c.-3G>A rs372835743 0.00001
NM_001110219.3(GJB6):c.393G>A (p.Ser131=) rs200353369 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004782.4(SNAP29):c.*1437T>C rs1356926944 0.00001
NM_004782.4(SNAP29):c.*1667G>A rs370941828 0.00001
NM_004782.4(SNAP29):c.*2059C>T rs186489004 0.00001
NM_004782.4(SNAP29):c.*2143G>A rs370242754 0.00001
NM_004782.4(SNAP29):c.*2168A>C rs886057273 0.00001
NM_004782.4(SNAP29):c.*3171G>A rs886057280 0.00001
NM_004782.4(SNAP29):c.*3252T>G rs376610436 0.00001
NM_004782.4(SNAP29):c.*3283T>G rs916175198 0.00001
NM_004782.4(SNAP29):c.*816C>T rs886057271 0.00001
NM_004782.4(SNAP29):c.238-12C>T rs373576052 0.00001
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119 0.00001
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg) rs775814400 0.00001
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475 0.00001
NM_004782.4(SNAP29):c.620-6C>G rs1397535065 0.00001
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845 0.00001
NM_006121.4(KRT1):c.*72G>T rs1486027458 0.00001
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) rs371843007 0.00001
NM_006121.4(KRT1):c.477G>C (p.Gln159His) rs886049635 0.00001
NM_006121.4(KRT1):c.729C>T (p.Asp243=) rs201069649 0.00001
NM_020427.3(SLURP1):c.167C>T (p.Thr56Met) rs587771241 0.00001
NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile) rs775418598 0.00001
NM_024009.3(GJB3):c.*370C>A rs1173323239 0.00001
NM_024009.3(GJB3):c.-150C>T rs910647846 0.00001
NM_024009.3(GJB3):c.-3G>A rs200397530 0.00001
NM_024009.3(GJB3):c.126C>T (p.Arg42=) rs776320459 0.00001
NM_024009.3(GJB3):c.165C>T (p.Thr55=) rs779347602 0.00001
NM_024009.3(GJB3):c.249C>T (p.Phe83=) rs1640079217 0.00001
NM_024009.3(GJB3):c.317G>A (p.Arg106His) rs369979083 0.00001
NM_024009.3(GJB3):c.347T>G (p.Leu116Arg) rs144085767 0.00001
NM_025216.2(WNT10A):c.-153G>A rs886055640 0.00001
NM_025216.3(WNT10A):c.*238C>T rs1176499706 0.00001
NM_025216.3(WNT10A):c.*275C>T rs182186187 0.00001
NM_025216.3(WNT10A):c.-70G>C rs1042922024 0.00001
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) rs781178898 0.00001
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) rs373695499 0.00001
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys) rs754010310 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) rs121908118 0.00001
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser) rs886055643 0.00001
NM_000226.4(KRT9):c.*41-8C>T rs765440137
NM_000226.4(KRT9):c.*93C>T rs1906863910
NM_000226.4(KRT9):c.1011C>T (p.Asn337=) rs143100726
NM_000226.4(KRT9):c.1045-9G>T rs144984735
NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile) rs1240669066
NM_000226.4(KRT9):c.1127G>A (p.Gly376Asp) rs777254346
NM_000226.4(KRT9):c.1315C>T (p.Leu439Phe) rs761629042
NM_000226.4(KRT9):c.1363C>T (p.His455Tyr) rs572344925
NM_000226.4(KRT9):c.1405G>A (p.Gly469Arg) rs201817471
NM_000226.4(KRT9):c.1869C>T (p.Ser623=) rs749243428
NM_000226.4(KRT9):c.380A>G (p.Tyr127Cys) rs1907085178
NM_000226.4(KRT9):c.429A>C (p.Gly143=) rs8075921
NM_000226.4(KRT9):c.578G>A (p.Gly193Glu) rs142413684
NM_000226.4(KRT9):c.644T>C (p.Ile215Thr) rs886052912
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-295-208G>A rs142299925
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004782.4(SNAP29):c.*1174C>T rs1929090760
NM_004782.4(SNAP29):c.*1438G>A rs1929095759
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C rs1929105241
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2171T>C rs1929111441
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2484G>C rs367880062
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*267C>T rs913695397
NM_004782.4(SNAP29):c.*2738G>A rs1358798270
NM_004782.4(SNAP29):c.*2796G>A rs562935601
NM_004782.4(SNAP29):c.*2868A>G rs1929130514
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G rs1185035865
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477AC[20] rs575240461
NM_004782.4(SNAP29):c.*477AC[21] rs575240461
NM_004782.4(SNAP29):c.*477AC[23] rs575240461
NM_004782.4(SNAP29):c.*477AC[24] rs575240461
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*590T>C rs1929076871
NM_004782.4(SNAP29):c.*755A>G rs116984278
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*948G>A rs1929085665
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.-58C>A rs552560669
NM_004782.4(SNAP29):c.-60G>A rs59194912
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-93G>T rs534931954
NM_004782.4(SNAP29):c.199A>G (p.Met67Val) rs1198217173
NM_004782.4(SNAP29):c.237+10G>T rs745946295
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.520+14T>C rs1928882519
NM_004782.4(SNAP29):c.620-4G>A rs199538534
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val) rs1929053710
NM_006121.4(KRT1):c.*275G>A rs886049634
NM_006121.4(KRT1):c.1002T>C (p.Asn334=) rs1941526192
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) rs1941504357
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) rs1342761835
NM_006121.4(KRT1):c.302G>T (p.Gly101Val) rs147840212
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) rs886049636
NM_020427.3(SLURP1):c.*14G>A rs886062732
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*172G>A rs1640104946
NM_024009.3(GJB3):c.*481C>T rs1640110951
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.-285C>A rs1640008053
NM_024009.3(GJB3):c.-293C>G rs1640007942
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-480G>C rs1326117272
NM_024009.3(GJB3):c.-70C>T rs1640012751
NM_024009.3(GJB3):c.-93C>T rs1057515515
NM_024009.3(GJB3):c.379C>T (p.Leu127=) rs1640085400
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667
NM_025216.2(WNT10A):c.-194dup rs886055639
NM_025216.2(WNT10A):c.-202G>C rs886055638
NM_025216.2(WNT10A):c.-203dup rs561005501
NM_025216.2(WNT10A):c.-249G>C rs571829301
NM_025216.2(WNT10A):c.-358G>A rs886055635
NM_025216.2(WNT10A):c.-370C>A rs886055634
NM_025216.2(WNT10A):c.-433C>G rs886055633
NM_025216.3(WNT10A):c.*139C>G rs1944681589
NM_025216.3(WNT10A):c.*339C>T rs1944683536
NM_025216.3(WNT10A):c.*441C>T rs886055647
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu) rs1944675395
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) rs564146190
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp) rs992196031
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) rs886055642
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) rs201929547
NM_025216.3(WNT10A):c.483G>C (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg) rs759559158
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys) rs377416834
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) rs201578578
NM_025216.3(WNT10A):c.756+13C>A rs745958462
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) rs541715493
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala) rs541715493

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