NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_001354587.1(ANKRD36):c.2479-1G>A
|
rs200852589
|
0.00076
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)
|
rs145898158
|
0.00009
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00006
|
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)
|
rs746164064
|
0.00004
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00002
|
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs)
|
rs587777072
|
0.00001
|
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
|
rs534494159
|
0.00001
|
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)
|
rs727504567
|
0.00001
|
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr)
|
rs753896285
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr)
|
rs1386447227
|
0.00001
|
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)
|
rs878853228
|
0.00001
|
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)
|
rs1391730624
|
0.00001
|
15q15.3 deletion
|
|
|
9q21.11 duplication
|
|
|
NC_000009.11:g.71705804_71974823invdup
|
|
|
NC_000009.12:g.69090066_69225446dup
|
|
|
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
|
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser)
|
rs878853235
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)
|
rs878853242
|
|
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)
|
rs397516336
|
|
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)
|
rs1584331188
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter)
|
rs2061464108
|
|
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs)
|
rs878853222
|
|
NM_001002295.2(GATA3):c.832G>A (p.Asp278Asn)
|
rs1588383622
|
|
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu)
|
rs878853232
|
|
NM_001354604.2(MITF):c.1000dup (p.Leu334fs)
|
rs1576047519
|
|
NM_001354604.2(MITF):c.1208del (p.Gly403fs)
|
rs878853234
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)
|
rs1599083635
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)
|
rs878853231
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr)
|
rs1594385065
|
|
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)
|
rs878853226
|
|
NM_004100.5(EYA4):c.1720_1722delTACinsAAA
|
rs1800334076
|
|
NM_004100.5(EYA4):c.441del (p.Tyr148fs)
|
rs878853223
|
|
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter)
|
rs1775958137
|
|
NM_004999.4(MYO6):c.1473_1473+2delinsC
|
rs878853225
|
|
NM_004999.4(MYO6):c.3765del (p.Cys1256fs)
|
rs1582024232
|
|
NM_005172.2(ATOH1):c.1030del (p.His344fs)
|
rs1578814396
|
|
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)
|
rs878853224
|
|
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn)
|
rs1303947821
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)
|
rs980193170
|
|
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)
|
rs1599193093
|
|
NM_006941.4(SOX10):c.125_132del (p.Leu42fs)
|
rs1601887036
|
|
NM_015205.3(ATP11A):c.3322_3327+2dup
|
rs2140433062
|
|
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
|
|
|
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs)
|
rs2047052213
|
|
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs)
|
rs2046256329
|
|
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met)
|
rs377385081
|
|
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys)
|
rs2045862543
|
|
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)
|
rs878853227
|
|
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn)
|
rs878853238
|
|
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs)
|
rs2046704290
|
|
NM_016239.4(MYO15A):c.9083+6T>A
|
rs1555547112
|
|
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)
|
rs550153707
|
|
NM_080680.3(COL11A2):c.968dup (p.Ala324fs)
|
rs1583366400
|
|
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
|
|
|
NM_138691.3(TMC1):c.15dup (p.Val6fs)
|
rs878853229
|
|
NM_138691.3(TMC1):c.229del (p.Arg77fs)
|
rs878853230
|
|
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
|
|
|
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
|
|
|
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
|
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
Single allele
|
|
|