NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_001292063.2(OTOG):c.899A>G (p.His300Arg)
|
rs189159426
|
0.00243
|
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro)
|
rs61744602
|
0.00187
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
|
rs138141474
|
0.00099
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
|
rs115143295
|
0.00081
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
|
rs186893662
|
0.00070
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)
|
rs201033926
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)
|
rs746380940
|
0.00015
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)
|
rs773551819
|
0.00011
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val)
|
rs144256756
|
0.00009
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg)
|
rs727504988
|
0.00006
|
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)
|
rs138771366
|
0.00006
|
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)
|
rs368430972
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp)
|
rs755149839
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr)
|
rs553079779
|
0.00004
|
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala)
|
rs573953982
|
0.00004
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln)
|
rs794729639
|
0.00003
|
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser)
|
rs200286254
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)
|
rs781747541
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile)
|
rs199708957
|
0.00001
|
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)
|
rs727503520
|
0.00001
|
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys)
|
rs727503462
|
0.00001
|
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)
|
rs372650987
|
0.00001
|
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro)
|
rs964336018
|
0.00001
|
NM_018451.5(CENPJ):c.3367-1G>A
|
rs763715733
|
0.00001
|
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln)
|
rs727502932
|
0.00001
|
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met)
|
rs752930006
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)
|
rs794729652
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000601.6(HGF):c.983G>T (p.Arg328Leu)
|
rs374484762
|
|
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs)
|
rs1553125914
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu)
|
rs897939885
|
|
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg)
|
rs1060499580
|
|
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)
|
rs375292203
|
|
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs)
|
rs1555669048
|
|
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)
|
rs727504862
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser)
|
rs1060499597
|
|
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)
|
rs1060499595
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817
|
|
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)
|
rs794729645
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs)
|
rs1555543836
|
|
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter)
|
rs571594379
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter)
|
rs1060499588
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro)
|
rs774773395
|
|
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile)
|
rs1060499570
|
|
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser)
|
rs1060499599
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
|
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)
|
rs727503441
|
|
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3])
|
rs794729640
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)
|
rs1060499581
|
|