NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NC_000017.11:g.8002596T>C
|
rs774980016
|
0.00004
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
|
rs1287727763
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_182961.4(SYNE1):c.12528+1G>A
|
rs1012514808
|
0.00001
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)
|
rs2151803661
|
|
NM_000180.4(GUCY2D):c.3043+5G>A
|
rs751822337
|
|
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs)
|
rs2135563245
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_001042472.3(ABHD12):c.620-2A>G
|
rs1555811525
|
|
NM_001111.5(ADAR):c.2763-2A>G
|
rs2101579172
|
|
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)
|
rs2101563488
|
|
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)
|
rs2101642015
|
|
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)
|
rs1233961202
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783
|
|
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter)
|
rs2105329431
|
|
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter)
|
rs1236195196
|
|
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)
|
rs876657841
|
|
NM_005861.4(STUB1):c.779A>C (p.His260Pro)
|
rs2151506687
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)
|
rs2137561854
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)
|
rs863224919
|
|
NM_018136.5(ASPM):c.8365del (p.Ser2789fs)
|
rs1353421249
|
|
NM_018136.5(ASPM):c.8794del (p.Ile2932fs)
|
rs1160186494
|
|
NM_022124.6(CDH23):c.1986+3A>T
|
rs2132682822
|
|
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)
|
rs2127551949
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|