|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
|
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu)
|
rs199604489
|
0.00037
|
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
|
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr)
|
rs769925793
|
0.00004
|
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)
|
rs1454725137
|
0.00002
|
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
|
NM_001200.4(BMP2):c.178A>C (p.Met60Leu)
|
rs773113395
|
0.00001
|
|
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys)
|
rs746956415
|
0.00001
|
|
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln)
|
rs1280894999
|
0.00001
|
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
|
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)
|
rs763320093
|
0.00001
|
|
Multiple alleles
|
|
|
|
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His)
|
rs1565440220
|
|
|
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)
|
rs2135798786
|
|
|
NM_000307.5(POU3F4):c.782C>A (p.Ser261Ter)
|
|
|
|
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)
|
rs1333304296
|
|
|
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)
|
rs1560070780
|
|
|
NM_001256317.3(TMPRSS3):c.205+6T>A
|
|
|
|
NM_001354604.2(MITF):c.984T>A (p.Asn328Lys)
|
|
|
|
NM_001384140.1(PCDH15):c.3285G>T (p.Leu1095=)
|
rs374940427
|
|
|
NM_001384140.1(PCDH15):c.4671+1541G>T
|
|
|
|
NM_003246.4(THBS1):c.1470del (p.Ile491fs)
|
|
|
|
NM_003246.4(THBS1):c.698C>A (p.Ser233Tyr)
|
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004604.5(STX4):c.232+6T>C
|
|
|
|
NM_005612.5(REST):c.1244G>C (p.Cys415Ser)
|
rs2109573013
|
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
|
NM_006005.3(WFS1):c.2141A>G (p.Asn714Ser)
|
|
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
|
NM_016239.4(MYO15A):c.1378C>T (p.Gln460Ter)
|
|
|
|
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu)
|
rs878854410
|
|
|
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His)
|
rs878854412
|
|
|
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs)
|
rs878854413
|
|
|
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)
|
rs749465098
|
|
|
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His)
|
rs878854414
|
|
|
NM_016239.4(MYO15A):c.6178-2A>G
|
rs878854415
|
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
|
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly)
|
rs878854409
|
|
|
NM_016239.4(MYO15A):c.9303+5G>A
|
rs1555547215
|
|
|
NM_022124.6(CDH23):c.9585T>G (p.Tyr3195Ter)
|
|
|
|
NM_173477.5(USH1G):c.314C>T (p.Ala105Val)
|
rs1567940507
|
|
|
NM_173477.5(USH1G):c.854dup (p.Ala286fs)
|
rs1567939718
|
|