NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_001031679.3(MSRB3):c.391-1G>A
|
rs751906778
|
0.00001
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
NM_001384140.1(PCDH15):c.92-528C>T
|
rs190773725
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
|
rs762876554
|
0.00001
|
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)
|
rs530821443
|
0.00001
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)
|
rs750358148
|
|
NM_000260.4(MYO7A):c.5856+5G>C
|
rs1386887007
|
|
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)
|
rs1569042782
|
|
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)
|
rs1559372512
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
NM_001199107.2(TBC1D24):c.965+1G>A
|
rs1390045914
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
NM_001256317.3(TMPRSS3):c.783-1G>T
|
rs1237955948
|
|
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
|
rs2079481708
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)
|
rs869312750
|
|
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)
|
rs368050948
|
|
NM_005422.4(TECTA):c.6162+5G>A
|
rs1565541888
|
|
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)
|
rs1565519673
|
|
NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)
|
|
|
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs)
|
rs1057519607
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
NM_016239.4(MYO15A):c.6178-2A>G
|
rs878854415
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs)
|
rs1057519604
|
|
NM_016239.4(MYO15A):c.9229+2T>C
|
rs1057519606
|
|
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)
|
rs754472294
|
|
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)
|
rs1755899012
|
|
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)
|
rs780664266
|
|
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)
|
rs1765197280
|
|
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)
|
rs1764920338
|
|
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)
|
rs757327146
|
|
NM_138691.3(TMC1):c.1220dup (p.Asn407fs)
|
rs1564555185
|
|
NM_174878.3(CLRN1):c.254-2A>G
|
rs1713861377
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
|
rs1657929865
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|