NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)
|
rs566116760
|
0.00167
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
NM_025103.4(IFT74):c.120+2dup
|
rs551515830
|
0.00048
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
0.00041
|
NM_015693.4(INTU):c.1628G>A (p.Arg543His)
|
rs34027211
|
0.00029
|
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys)
|
rs145672738
|
0.00024
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00016
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys)
|
rs745512025
|
0.00010
|
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)
|
rs183911558
|
0.00009
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
|
rs281875318
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)
|
rs574017249
|
0.00006
|
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)
|
rs567875341
|
0.00004
|
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)
|
rs777021265
|
0.00004
|
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)
|
rs761391585
|
0.00004
|
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys)
|
rs377244239
|
0.00004
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)
|
rs575837056
|
0.00004
|
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)
|
rs775782206
|
0.00003
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met)
|
rs375234607
|
0.00002
|
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp)
|
rs201012962
|
0.00002
|
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)
|
rs1227833863
|
0.00002
|
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter)
|
rs956457873
|
0.00001
|
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)
|
rs992324423
|
0.00001
|
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu)
|
rs1691236972
|
0.00001
|
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)
|
rs770569272
|
0.00001
|
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)
|
rs563710728
|
0.00001
|
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met)
|
rs755055463
|
0.00001
|
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)
|
rs1335783881
|
0.00001
|
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)
|
rs759662469
|
0.00001
|
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)
|
rs368721486
|
0.00001
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn)
|
rs538983393
|
0.00001
|
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)
|
rs763320093
|
0.00001
|
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)
|
rs144776609
|
|
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
|
rs368448387
|
|
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu)
|
rs748793969
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His)
|
rs1555050986
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)
|
rs1555057881
|
|
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
|
rs199984052
|
|
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)
|
rs34540312
|
|
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)
|
rs1933302820
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)
|
rs1601319501
|
|
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)
|
rs373832683
|
|
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)
|
rs778625348
|
|
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)
|
rs1002531030
|
|
NM_013432.5(TONSL):c.866-1G>C
|
rs1424148372
|
|
NM_015949.3(GET4):c.837A>G (p.Ile279Met)
|
rs1844404490
|
|
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)
|
rs76483206
|
|
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr)
|
rs1472883107
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)
|
rs771745123
|
|
Single allele
|
|
|