ClinVar Miner

List of variants reported as benign for ectodermal dysplasia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 951
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_198253.3(TERT):c.1574-4455C>T rs2853677 0.63320
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_198253.3(TERT):c.2654+269T>C rs2075786 0.54966
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_198253.3(TERT):c.1574-3777G>T rs2736100 0.52208
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_020529.3(NFKBIA):c.*126G>A rs696 0.44653
NM_018648.4(NOP10):c.55-15G>C rs422388 0.43627
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_002448.3(MSX1):c.*276A>G rs12532 0.36320
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.35840
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_198253.3(TERT):c.1574-3235G>T rs7705526 0.28965
NM_198253.3(TERT):c.1769+225G>T rs7726159 0.28907
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NC_000014.9:g.35405593G>A rs2233406 0.26309
NC_000014.9:g.35405648T>C rs3138053 0.26291
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NC_000005.10:g.1295234A>G rs2853669 0.24174
NC_000005.10:g.1297373C>T rs2736108 0.23298
NM_004415.4(DSP):c.2091= (p.Gly697=) rs2076304 0.23152
NM_002448.3(MSX1):c.*6C>T rs8670 0.22915
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NC_000014.9:g.35405064G>A rs2233409 0.19281
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_198253.3(TERT):c.1950+245C>T rs2242652 0.17562
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=) rs1050851 0.15413
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) rs11552449 0.15327
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_020529.3(NFKBIA):c.636+17C>T rs2233419 0.15155
NM_002448.3(MSX1):c.119C>G (p.Ala40Gly) rs36059701 0.14189
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_014112.5(TRPS1):c.423G>T (p.Pro141=) rs7823278 0.13335
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_001099274.3(TINF2):c.400-20_400-18dup rs58372573 0.06483
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_002448.3(MSX1):c.348C>T (p.Gly116=) rs34165410 0.05963
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
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_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_002582.4(PARN):c.918+14T>C rs75783314 0.04521
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_014112.5(TRPS1):c.2700+10T>C rs76046106 0.03410
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_024589.3(ROGDI):c.822+17C>T rs111272920 0.02340
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu) rs143095485 0.01923
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_017838.4(NHP2):c.160+16G>C rs41285577 0.01797
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=) rs34786438 0.01390
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
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_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_020529.3(NFKBIA):c.243C>T (p.Ala81=) rs2233412 0.00874
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_018648.4(NOP10):c.34G>C (p.Asp12His) rs146261631 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_022336.4(EDAR):c.57T>A (p.Ser19=) rs28407350 0.00782
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
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_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311 0.00688
NM_024589.3(ROGDI):c.696C>T (p.Phe232=) rs75818610 0.00686
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00648
NM_024589.3(ROGDI):c.646-5C>T rs115660765 0.00647
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504 0.00623
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532 0.00616
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_004415.4(DSP):c.1702-18C>T rs148417566 0.00594
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001283009.2(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693 0.00581
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_002448.3(MSX1):c.561G>A (p.Leu187=) rs149960650 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_001283009.2(RTEL1):c.1800+14C>T rs150377952 0.00456
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu) rs201156596 0.00425
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) rs115930248 0.00401
NM_024589.3(ROGDI):c.45+19C>G rs546936996 0.00397
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_001283009.2(RTEL1):c.3110-17T>C rs192060579 0.00373
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_002448.3(MSX1):c.86C>T (p.Ala29Val) rs530217423 0.00336
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_198253.3(TERT):c.1950+15G>A rs35695689 0.00326
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_001283009.2(RTEL1):c.1349-17C>T rs58559263 0.00324
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_018648.4(NOP10):c.55-11T>C rs141981162 0.00304
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_018648.4(NOP10):c.55-10C>A rs200017156 0.00295
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.2653-18C>T rs185974219 0.00217
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_001099274.3(TINF2):c.1129+15T>A rs200599508 0.00197
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_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_017838.4(NHP2):c.337-14T>C rs201653595 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_002582.4(PARN):c.840+6T>C rs59687658 0.00184
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_014112.5(TRPS1):c.816G>A (p.Glu272=) rs7016652 0.00169
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=) rs191525942 0.00158
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_198253.3(TERT):c.1574-16G>C rs79698601 0.00144
NM_014112.5(TRPS1):c.2823+15C>A rs201296334 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_024589.3(ROGDI):c.118-13C>G rs201794245 0.00137
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu) rs142784032 0.00134
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001099274.3(TINF2):c.400-9C>T rs201087708 0.00128
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_017838.4(NHP2):c.270A>G (p.Val90=) rs148179279 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_004415.4(DSP):c.939+17C>T rs140481492 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
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_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_002582.4(PARN):c.1761C>T (p.Ser587=) rs148052946 0.00110
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_002582.4(PARN):c.1263-8T>G rs182460499 0.00097
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_001283009.2(RTEL1):c.1481+18C>T rs144022543 0.00096
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_020529.3(NFKBIA):c.227+16C>T rs539047415 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_001363.5(DKC1):c.771+13G>A rs201592812 0.00091
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_014112.5(TRPS1):c.2485C>G (p.Pro829Ala) rs78472570 0.00088
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_002448.3(MSX1):c.297G>C (p.Pro99=) rs757688467 0.00081
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_025216.3(WNT10A):c.591C>T (p.Ala197=) rs367808568 0.00078
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=) rs201030937 0.00076
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_001283009.2(RTEL1):c.1595+19G>A rs202032186 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_014112.5(TRPS1):c.1164A>G (p.Ser388=) rs138244006 0.00061
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_024589.3(ROGDI):c.489C>T (p.Pro163=) rs113245789 0.00056
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001363.5(DKC1):c.172-12G>A rs376783942 0.00055
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_020529.3(NFKBIA):c.903C>T (p.Asp301=) rs146132589 0.00052
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302 0.00050
NM_014112.5(TRPS1):c.2701-13T>C rs748717384 0.00050
NM_001283009.2(RTEL1):c.2349C>T (p.Phe783=) rs200068703 0.00049
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) rs368440052 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 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_014112.5(TRPS1):c.967-14C>T rs200044397 0.00041
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_001283009.2(RTEL1):c.2852-17C>T rs200335181 0.00039
NM_022336.4(EDAR):c.147G>A (p.Pro49=) rs149582563 0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=) rs8192285 0.00037
NM_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_020529.3(NFKBIA):c.554C>T (p.Thr185Met) rs142195196 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_014112.5(TRPS1):c.2460C>T (p.Thr820=) rs373410728 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln) rs199839411 0.00034
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) rs61745721 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001283009.2(RTEL1):c.1267-17G>A rs558289937 0.00031
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_002582.4(PARN):c.1006-5T>C rs377692519 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.961G>C (p.Val321Leu) rs143994626 0.00019
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) rs564195922 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) rs144697790 0.00019
NM_002448.3(MSX1):c.151A>G (p.Lys51Glu) rs994158401 0.00018
NM_002582.4(PARN):c.1192+4C>T rs185546844 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_000165.5(GJA1):c.309A>G (p.Glu103=) rs544249730 0.00017
NM_002582.4(PARN):c.978A>G (p.Lys326=) rs200678657 0.00017
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001399.5(EDA):c.833C>G (p.Thr278Ser) rs375753764 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 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_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_198253.3(TERT):c.642G>A (p.Leu214=) rs549656839 0.00015
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001399.5(EDA):c.435A>G (p.Pro145=) rs146844463 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001363.5(DKC1):c.978C>T (p.Gly326=) rs145325102 0.00013
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn) rs34474186 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_001283009.2(RTEL1):c.1348+20C>T rs375760002 0.00011
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992 0.00011
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=) rs201618790 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_004415.4(DSP):c.4992G>C (p.Leu1664=) rs772302453 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg) rs202001185 0.00010
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_198253.3(TERT):c.1785G>A (p.Arg595=) rs765708956 0.00010
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163 0.00009
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser) rs376005629 0.00009
NM_004415.4(DSP):c.8544A>C (p.Gly2848=) rs201876903 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.741+9G>A rs751258727 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_024589.3(ROGDI):c.696-8G>T rs3747609 0.00008
NM_025099.6(CTC1):c.3515-17C>T rs376402639 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
NM_001399.5(EDA):c.526+10T>G rs957016563 0.00007
NM_002448.3(MSX1):c.127A>C (p.Met43Leu) rs565664559 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_024589.3(ROGDI):c.823-10C>T rs199642172 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) rs61747506 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_002582.4(PARN):c.1082-13T>A rs188469919 0.00006
NM_004415.4(DSP):c.1494G>A (p.Pro498=) rs764544754 0.00006
NM_004415.4(DSP):c.174A>G (p.Gln58=) rs140384933 0.00006
NM_004415.4(DSP):c.259C>G (p.Leu87Val) rs377652477 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_020529.3(NFKBIA):c.941G>A (p.Arg314His) rs142970414 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 0.00006
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln) rs773366454 0.00006
NM_198253.3(TERT):c.737C>T (p.Pro246Leu) rs377315722 0.00006
NM_001399.5(EDA):c.717T>G (p.Asp239Glu) rs766810445 0.00005
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.284A>G (p.Tyr95Cys) rs781226937 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953 0.00005
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr) rs777773801 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539 0.00005
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) rs371482940 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227 0.00004
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991 0.00004
NM_004415.4(DSP):c.1222A>C (p.Asn408His) rs142129767 0.00004
NM_004415.4(DSP):c.1413A>G (p.Gln471=) rs376983987 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00004
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00004
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly) rs762079110 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_020529.3(NFKBIA):c.906+20C>T rs368801300 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.1098C>T (p.His366=) rs1322090620 0.00003
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) rs750739438 0.00003
NM_001399.5(EDA):c.277C>T (p.Leu93Phe) rs746479442 0.00003
NM_004415.4(DSP):c.1695C>T (p.Ile565=) rs752714010 0.00003
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.789T>C (p.Phe263=) rs1354363918 0.00003
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095 0.00003
NM_017838.4(NHP2):c.231-20_231-19del rs1491337170 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_001399.5(EDA):c.1083C>T (p.Ala361=) rs780464771 0.00002
NM_001399.5(EDA):c.132G>C (p.Leu44=) rs760109372 0.00002
NM_002582.4(PARN):c.1006-12C>T rs767292858 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4767C>T (p.Cys1589=) rs763203149 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5610A>G (p.Gln1870=) rs777420903 0.00002
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser) rs150221265 0.00002
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_001283009.2(RTEL1):c.1482-10C>G rs754623770 0.00001
NM_001283009.2(RTEL1):c.301+15C>T rs532341610 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3499+15T>C rs546556686 0.00001
NM_001363.5(DKC1):c.138G>A (p.Lys46=) rs369777662 0.00001
NM_001399.5(EDA):c.502+10C>T rs771904661 0.00001
NM_001399.5(EDA):c.879G>A (p.Leu293=) rs746437230 0.00001
NM_004415.4(DSP):c.108C>T (p.Gly36=) rs755510597 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1992A>G (p.Gln664=) rs759117503 0.00001
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys) rs762341335 0.00001
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=) rs1383881452 0.00001
NM_004415.4(DSP):c.3216C>T (p.Phe1072=) rs774512190 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.5589C>T (p.Asp1863=) rs751379396 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981 0.00001
NM_004415.4(DSP):c.7089C>T (p.His2363=) rs1001343270 0.00001
NM_004415.4(DSP):c.7650C>T (p.Gly2550=) rs780277298 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7986C>A (p.His2662Gln) rs753720770 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.867C>T (p.Cys289=) rs397516973 0.00001
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser) rs547426784 0.00001
NM_020529.3(NFKBIA):c.162C>T (p.Leu54=) rs138468321 0.00001
NM_020529.3(NFKBIA):c.336+3G>A rs769147621 0.00001
NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys) rs957688002 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_024589.3(ROGDI):c.417C>T (p.Gly139=) rs375517608 0.00001
NM_024589.3(ROGDI):c.678T>C (p.His226=) rs549672547 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NC_000003.12:g.169764547T>C rs2293607
NC_000014.9:g.35405317T>A rs2233407
NC_000014.9:g.35405505del rs17103265
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_001082486.2(ACD):c.743-3dup rs1369632476
NM_001099274.3(TINF2):c.605-4del
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001283009.2(RTEL1):c.1349-10dup
NM_001283009.2(RTEL1):c.1879-4del
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2266-13dup rs546123796
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2670T>G (p.Gly890=)
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2784_2785delinsTA (p.Ala929Thr) rs1601182623
NM_001283009.2(RTEL1):c.2852-12del
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3344-5del rs2145477238
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.477+19G>A rs6010997
NM_001283009.2(RTEL1):c.614+10dup
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
NM_001363.5(DKC1):c.84+19G>T
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
NM_001399.5(EDA):c.215G>A (p.Arg72His)
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.503-13A>G
NM_001399.5(EDA):c.503-14T>C
NM_001399.5(EDA):c.526+20A>C
NM_001399.5(EDA):c.706+11del
NM_001399.5(EDA):c.707-18T>G
NM_001399.5(EDA):c.741+18C>G
NM_001399.5(EDA):c.793+19T>C
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.758-16T>A
NM_002448.3(MSX1):c.260A>G (p.Gln87Arg)
NM_002448.3(MSX1):c.469+46_469+56del rs149370601
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) rs150284621
NM_002582.4(PARN):c.1082-6dup rs763461320
NM_002582.4(PARN):c.1192+5G>A
NM_002582.4(PARN):c.1193-10del
NM_002582.4(PARN):c.1481-14del rs748039977
NM_002582.4(PARN):c.1670+17G>T rs116427010
NM_002582.4(PARN):c.245+20G>A rs377105548
NM_002582.4(PARN):c.703-3dup
NM_002582.4(PARN):c.919-3T>C rs2151757180
NM_002582.4(PARN):c.963-11del rs756034248
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1302G>A (p.Gln434=)
NM_004415.4(DSP):c.1359A>G (p.Pro453=)
NM_004415.4(DSP):c.1404C>T (p.Asp468=)
NM_004415.4(DSP):c.1437G>A (p.Gly479=)
NM_004415.4(DSP):c.1455G>A (p.Lys485=)
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.177C>T (p.Thr59=) rs376873185
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1998A>G (p.Thr666=)
NM_004415.4(DSP):c.2040G>A (p.Glu680=)
NM_004415.4(DSP):c.234C>T (p.Cys78=)
NM_004415.4(DSP):c.2400C>T (p.Asp800=)
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg) rs727504657
NM_004415.4(DSP):c.2622C>T (p.Ile874=)
NM_004415.4(DSP):c.2631-3dup rs1759237078
NM_004415.4(DSP):c.2748A>G (p.Lys916=)
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3061C>T (p.Leu1021=)
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
NM_004415.4(DSP):c.3414C>T (p.Asp1138=)
NM_004415.4(DSP):c.3555G>A (p.Lys1185=)
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3792T>A (p.Thr1264=)
NM_004415.4(DSP):c.3870T>C (p.His1290=)
NM_004415.4(DSP):c.423-9dup rs1554105896
NM_004415.4(DSP):c.4515G>C (p.Ala1505=)
NM_004415.4(DSP):c.5145G>A (p.Lys1715=)
NM_004415.4(DSP):c.5257A>C (p.Arg1753=) rs775072446
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
NM_004415.4(DSP):c.5844G>A (p.Gly1948=)
NM_004415.4(DSP):c.5847C>A (p.Ser1949=) rs953031251
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
NM_004415.4(DSP):c.6069T>C (p.Ala2023=)
NM_004415.4(DSP):c.6210C>T (p.Asp2070=)
NM_004415.4(DSP):c.6294T>C (p.Asp2098=)
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
NM_004415.4(DSP):c.6648T>G (p.Pro2216=)
NM_004415.4(DSP):c.6708G>A (p.Leu2236=)
NM_004415.4(DSP):c.7026T>C (p.Pro2342=)
NM_004415.4(DSP):c.727-14_727-13del
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7656C>G (p.Leu2552=)
NM_004415.4(DSP):c.8061G>A (p.Arg2687=)
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8179C>T (p.Leu2727=)
NM_004415.4(DSP):c.8436C>T (p.Gly2812=)
NM_004415.4(DSP):c.8496A>C (p.Gly2832=) rs760011967
NM_004415.4(DSP):c.8583C>T (p.Ser2861=)
NM_004415.4(DSP):c.87G>A (p.Glu29=)
NM_004415.4(DSP):c.885G>A (p.Leu295=)
NM_004415.4(DSP):c.93C>T (p.Thr31=)
NM_014112.5(TRPS1):c.1194A>G (p.Ala398=)
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=) rs370007078
NM_014112.5(TRPS1):c.1587G>A (p.Glu529=)
NM_014112.5(TRPS1):c.1914C>T (p.Asp638=)
NM_014112.5(TRPS1):c.2282A>G (p.Asn761Ser)
NM_014112.5(TRPS1):c.2301T>C (p.Ser767=)
NM_014112.5(TRPS1):c.2409C>T (p.Arg803=)
NM_014112.5(TRPS1):c.2701-13dup
NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)
NM_014112.5(TRPS1):c.2824-17G>A
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)
NM_014112.5(TRPS1):c.63T>A (p.Pro21=)
NM_014112.5(TRPS1):c.867C>A (p.Ser289=)
NM_017838.4(NHP2):c.160+11C>T rs201274409
NM_017838.4(NHP2):c.231-13dup
NM_017838.4(NHP2):c.231-17_231-16del rs572960228
NM_017838.4(NHP2):c.336+20del rs542745432
NM_020529.3(NFKBIA):c.140A>G (p.Lys47Arg) rs1594427886
NM_020529.3(NFKBIA):c.151G>A (p.Glu51Lys)
NM_020529.3(NFKBIA):c.336+20C>A rs754935304
NM_020529.3(NFKBIA):c.509C>G (p.Pro170Arg)
NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr)
NM_020529.3(NFKBIA):c.577C>A (p.His193Asn) rs2052742904
NM_020529.3(NFKBIA):c.636+16_636+17delinsTT
NM_020529.3(NFKBIA):c.907-11del
NM_020529.3(NFKBIA):c.907-15del
NM_020529.3(NFKBIA):c.907-15dup rs775742609
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020779.4(WDR35):c.308-17dup
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.442+14T>C
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024589.3(ROGDI):c.117+10C>T rs113858060
NM_024589.3(ROGDI):c.118-24_118-17del rs145700776
NM_024589.3(ROGDI):c.432+13dup rs2082693928
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.645+15del rs1356112429
NM_024589.3(ROGDI):c.786C>G (p.Thr262=) rs146812127
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.647+12del rs755954781
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.817-11dup
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_198253.3(TERT):c.1769+13del rs1301313710
NM_198253.3(TERT):c.1770-14dup
NM_198253.3(TERT):c.1951-6del rs2126642447
NM_198253.3(TERT):c.220-5dup
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2844-11dup rs1491484726
NM_198253.3(TERT):c.3158-3del rs748986490

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