NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_138691.3(TMC1):c.236+1G>A
|
rs775428246
|
0.00003
|
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg)
|
rs1377749598
|
0.00003
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys)
|
rs773353115
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_001031679.3(MSRB3):c.391-1G>A
|
rs751906778
|
0.00001
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
0.00001
|
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
|
|
|
NM_000163.5(GHR):c.267-2A>G
|
rs1757597156
|
|
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val)
|
rs538178875
|
|
NM_000372.5(TYR):c.164G>C (p.Cys55Ser)
|
rs28940879
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
|
|
|
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs)
|
rs2039037448
|
|
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)
|
rs398122991
|
|
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)
|
rs398122995
|
|
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs)
|
rs398122993
|
|
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs)
|
rs398122994
|
|
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His)
|
rs1595163029
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_002906.4(RDX):c.551+2T>C
|
rs1591158999
|
|
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
|
rs587783645
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_013335.4(GMPPA):c.853+1G>A
|
rs1553624347
|
|
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)
|
rs756960425
|
|
NM_194248.3(OTOF):c.2443del (p.Gln815fs)
|
rs1558485249
|
|
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)
|
rs1423777622
|
|
NM_194248.3(OTOF):c.4362+1G>C
|
rs1274464930
|
|
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)
|
rs1558472243
|
|