Supplementary Table 2. Identified causative mutations and/or mutation candidates.
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1 Supplementary Table 2. Identified causative mutations and/or mutation candidates. Nonsense mutations base change aa change Average depth Result of next generation in 432 patient Hereditary form of the mutation detected families 1 EYA1 NM_ NP_ c.634c>t p.q212x AR AB GJB2 NM_ NP_ c.408c>a p.y136x AR, sporadic AB MIA NM_ NP_ c.178c>t p.r60x AD AB MYO6 NM_ NP_ c.1975c>t p.r659x AD AB TMPRSS3 NM_ NP_ c.607c>a p.q203x AR AB Splicing junction mutations base change aa change Average depth Result of next generation in 432 patient Hereditary form of the mutation detected families 1 KCNQ1 NM_ NP_ c g>t p.q530fs sporadic AB SLC26A4 NM_ NP_ c.919-2a>g p.v306fs AR, sporadic AB Insertion/Deletion mutations base change aa change Average depth Result of next generation in 432 patient Hereditary form of the mutation detected families 1 GJB2 NM_ NP_ c.36insg p.v12fs sporadic AB GJB2 NM_ NP_ c del16 p.g59fs AR, sporadic AB GJB2 NM_ NP_ c.235delc p.l79fs AR, sporadic, unknown AB GJB2 NM_ NP_ c delat p.h100fs AR, sporadic AB MYO15A NM_ NP_ c insc p.p393fs sporadic AB MYH9 NM_ NP_ c.3016insgag p.t1006fs AR AB TECTA NM_ NP_ c.597delg p.l199fs sporadic AB839001
2 Missense mutations base change aa change Average depth Result of next generation in 432 patient Polyphen2 score Hereditary form of the mutation detected families 1 ACTG1 NM_ NP_ c.485c>t p.t162m sporadic AB APOD NM_ NP_ c.91c>t p.p31s AD AB ATP6V1B1 NM_ NP_ c.599t>c p.i200t unknown AB BSND NM_ NP_ c.893g>a p.g298e sporadic AB CCS NM_ NP_ c.167c>t p.t56i sporadic AB CCS NM_ NP_ c.212g>a p.r71q sporadic AB CCS NM_ NP_ c.586c>t p.r196c sporadic AB CDH23 NM_ NP_ c.719c>t p.p240l AD/Mit, AR, sporadic AB CDH23 NM_ NP_ c.2866g>a p.e956k sporadic AB CDH23 NM_ NP_ c.4249c>t p.r1417w unknown AB CDH23 NM_ NP_ c.4346g>a p.g1449d sporadic AB CDH23 NM_ NP_ c.4762c>t p.r1588w AR, AD, sporadic AB CDH23 NM_ NP_ c.7145g>a p.r2382q sporadic AB CDH23 NM_ NP_ c.8734g>a p.g2912s sporadic AB CLU NM_ NP_ c.382g>a p.v128i AR AB COL11A1 NM_ NP_ c.560c>t p.t187m AD/Mit AB COL11A1 NM_ NP_ c.2614t>a p.f872i AD, sporadic AB COL11A1 NM_ NP_ c.2771c>t p.p924l sporadic AB COL11A2 NM_ NP_ c.688g>t p.g230w AD/Mit, sporadic AB COL11A2 NM_ NP_ c.2002c>t p.p668s AD/Mit, AR, sporadic AB COL11A2 NM_ NP_ c.3392g>a p.r1131q AD AB COL11A2 NM_ NP_ c.4265c>t p.p1422l sporadic AB COL2A1 NM_ NP_ c.4148c>t p.t1383m unknown AB COL2A1 NM_ NP_ c.4196a>g p.y1399c sporadic AB COL4A3 NM_ NP_ c.469g>c p.g157r AD AB COL4A3 NM_ NP_ c.1295c>t p.p432l AD, sporadic AB COL4A3 NM_ NP_ c.2827g>a p.g943r sporadic AB COL4A3 NM_ NP_ c.4928g>a p.r1643k AD AB COL4A4 NM_ NP_ c.2045a>g p.d682g unknown AB COL4A4 NM_ NP_ c.2872c>g p.p958a sporadic AB COL4A4 NM_ NP_ c.4316g>a p.g1439d AR AB839032
3 32 COL4A5 NM_ NP_ c.2858g>t p.g953v AD, AD/Mit, sporadic AB COL4A5 NM_ NP_ c.3044g>a p.g1015e AD/Mit AB COL4A5 NM_ NP_ c.4003c>t p.p1335s sporadic AB COL9A1 NM_ NP_ c.2395g>c p.g799r sporadic AB COL9A3 NM_ NP_ c.1361g>a p.g454e sporadic AB COL9A3 NM_ NP_ c.1649c>t p.p550l AD AB DIAPH1 NM_ NP_ c.2032c>t p.p678s AD/Mit AB EDN3 NM_ NP_ c.554c>t p.t185m sporadic AB EDNRB NM_ NP_ c.311a>t p.n104i sporadic AB ESRRB NM_ NP_ c.475c>t p.r159c sporadic AB ESRRB NM_ NP_ c.536g>a p.r179h sporadic AB EYA1 NM_ NP_ c.403g>a p.g135s AD/Mit, AD, sporadic AB EYA1 NM_ NP_ c.671g>t p.g224v sporadic AB EYA1 NM_ NP_ c.1286a>g p.d429g AD/Mit AB FBXO2 NM_ NP_ c.286g>a p.g96r AD/Mit AB GJB2 NM_ NP_ c.23c>t p.t8m unknown AB GJB2 NM_ NP_ c.109g>a p.v37i sporadic AB GJB2 NM_ NP_ c.134g>a p.g45e AR, sporadic, AD/Mit/AR AB GJB2 NM_ NP_ c.257c>g p.t86r unknown AB GJB2 NM_ NP_ c.427c>t p.r143w sporadic AB GJB3 NM_ NP_ c.250g>a p.v84i sporadic AB GJB3 NM_ NP_ c.437t>c p.l146p unknown AB GJB3 NM_ NP_ c.459g>t p.w153c sporadic AB GJB6 NM_ NP_ c.556a>g p.t186a sporadic AB GPR98 NM_ NP_ c.913t>c p.y305h sporadic AB GPR98 NM_ NP_ c.1797a>t p.r599s AR AB GPR98 NM_ NP_ c.1804g>a p.a602t AR, sporadic AB GPR98 NM_ NP_ c.2039a>g p.d680g sporadic AB GPR98 NM_ NP_ c.4703g>a p.s1568n sporadic AB GPR98 NM_ NP_ c.6469g>a p.v2157m sporadic AB GPR98 NM_ NP_ c.12335t>g p.l4112w sporadic AB GPR98 NM_ NP_ c.12554g>c p.g4185a sporadic AB GPR98 NM_ NP_ c.12704a>g p.y4235c sporadic AB GPR98 NM_ NP_ c.13763g>a p.g4588e sporadic AB GPR98 NM_ NP_ c.13996a>g p.i4666v AD AB GPR98 NM_ NP_ c.14319a>g p.i4773m sporadic AB839068
4 68 GPR98 NM_ NP_ c.18602a>c p.n6201h AD/Mit, sporadic AB ISLR NM_ NP_ c.146c>t p.p49l AD AB KCNQ4 NM_ NP_ c.2014g>a p.v672m sporadic AB KIAA1199 NM_ NP_ c.653g>a p.r218h sporadic AB LHFP NM_ NP_ c.299c>t p.a100v sporadic AB LRP1 NM_ NP_ c.6493g>a p.g2165r AD/Mit AB LRP1 NM_ NP_ c.8801c>t p.s2934l sporadic AB LRP1 NM_ NP_ c.10802c>t p.a3601v sporadic AB LRP1 NM_ NP_ c.11780g>a p.r3927h sporadic AB LRP1 NM_ NP_ c.12346c>t p.h4116y AR AB MARVELD2 NM_ NP_ c.166c>t p.p56s sporadic AB MARVELD2 NM_ NP_ c.1115g>a p.r372q sporadic AB MARVELD2 NM_ NP_ c.1641t>a p.d547e sporadic AB MYH14 NM_ NP_ c.2593a>c p.k865q sporadic AB MYH14 NM_ NP_ c.4804g>a p.e1602k sporadic AB MYH9 NM_ NP_ c.2404c>t p.r802w sporadic AB MYH9 NM_ NP_ c.4352c>t p.a1451v AD AB MYO15A NM_ NP_ c.514c>t p.l172f AD/Mit AB MYO15A NM_ NP_ c.554g>a p.g185d AD AB MYO15A NM_ NP_ c.613t>c p.f205l sporadic AB MYO15A NM_ NP_ c.671a>g p.y224c sporadic AB MYO15A NM_ NP_ c.4216g>a p.e1406k sporadic AB MYO15A NM_ NP_ c.4322g>t p.g1441v sporadic AB MYO15A NM_ NP_ c.4828g>a p.e1610k AR AB MYO15A NM_ NP_ c.4888c>g p.r1630g sporadic AB MYO15A NM_ NP_ c.5117g>t p.g1706v sporadic AB MYO15A NM_ NP_ c.9478c>t p.l3160f AD, sporadic AB MYO15A NM_ NP_ c.9781a>t p.n3261y sporadic AB MYO15A NM_ NP_ c.10263c>g p.i3421m sporadic AB MYO1A NM_ NP_ c.2303g>a p.r768q sporadic AB MYO3A NM_ NP_ c.426t>g p.h142q sporadic AB MYO3A NM_ NP_ c.848a>c p.q283p sporadic AB MYO3A NM_ NP_ c.1324c>a p.h442n AD, AD/AR/Mit, sporadic AB MYO3A NM_ NP_ c.1819g>t p.v607f sporadic AB MYO6 NM_ NP_ c.614g>a p.r205q AD AB MYO6 NM_ NP_ c.3814c>t p.r1272w sporadic AB839104
5 104 MYO7A NM_ NP_ c.2023c>t p.r675c AD, sporadic AB MYO7A NM_ NP_ c.4806g>a p.e1603k AD, sporadic AB MYO7A NM_ NP_ c.6235c>t p.r2079w sporadic AB NDP NM_ NP_ c.58g>a p.g20r sporadic AB OTOF NM_ NP_ c.157g>a p.a53t sporadic AB OTOF NM_ NP_ c.3683g>t p.r1228l sporadic AB OTOF NM_ NP_ c.4417g>t p.g1473c sporadic AB OTOF NM_ NP_ c.5408a>c p.e1803a AR AB PCDH15 NM_ NP_ c.298g>a p.g100r AD/Mit AB PCDH15 NM_ NP_ c.833g>a p.r278h sporadic AB PCDH15 NM_ NP_ c.944c>t p.p315l sporadic AB PCDH15 NM_ NP_ c.2528c>a p.a843d unknown AB PCDH15 NM_ NP_ c.2884c>t p.r962c AR, sporadic AB PCDH15 NM_ NP_ c.3451g>a p.g1151r sporadic AB POU4F3 NM_ NP_ c.736c>a p.p246t sporadic AB RDX NM_ NP_ c.869t>c p.l290p unknown AB SLC17A8 NM_ NP_ c.1120g>t p.a374s AD, sporadic AB SLC26A4 NM_ NP_ c.439a>g p.m147v sporadic AB SLC26A4 NM_ NP_ c.1229c>t p.t410m AR, sporadic AB SLC26A4 NM_ NP_ c.1579a>c p.t527p sporadic AB SLC26A4 NM_ NP_ c.2168a>g p.h723r AD, AD/Mit, AR, sporadic AB STRC NM_ NP_ c.2914c>t p.r972w sporadic AB STRC NM_ NP_ c.4622g>a p.r1541q sporadic AB TCOF1 NM_ NP_ c.1045a>g p.s349g sporadic AB TCOF1 NM_ NP_ c.2344c>g p.q782e sporadic AB TCOF1 NM_ NP_ c.2666g>a p.r889h AR AB TECTA NM_ NP_ c.1471c>t p.r491c sporadic, unknown AB TECTA NM_ NP_ c.3511g>a p.v1171m AD, sporadic AB TECTA NM_ NP_ c.4198c>t p.h1400y AD AB TECTA NM_ NP_ c.4315c>a p.l1439i AD/Mit AB TMPRSS3 NM_ NP_ c.212t>c p.f71s sporadic AB TMPRSS3 NM_ NP_ c.280g>a p.g94r sporadic, unknown AB TMPRSS3 NM_ NP_ c.316c>t p.r106c AD/Mit, sporadic AB TMPRSS3 NM_ NP_ c.1159g>a p.a387t AR AB TRIOBP NM_ NP_ c.154g>a p.d52n sporadic AB TRIOBP NM_ NP_ c.4840g>t p.g1614c AD/Mit, AR AB839140
6 140 TRIOBP NM_ NP_ c.5519g>a p.r1840h AR AB TRIOBP NM_ NP_ c.6860g>a p.r2287h AR AB USH1C NM_ NP_ c.188g>a p.r63q unknown AB USH1C NM_ NP_ c.2191c>t p.r731w sporadic AB USH2A NM_ NP_ c.206g>t p.s69i sporadic AB USH2A NM_ NP_ c.1678c>g p.p560a sporadic AB USH2A NM_ NP_ c.5608c>t p.r1870w sporadic AB USH2A NM_ NP_ c.1877g>a p.r626q sporadic AB USH2A NM_ NP_ c.4070c>t p.t1357m AR, sporadic AB USH2A NM_ NP_ c.4616c>t p.t1539i sporadic AB USH2A NM_ NP_ c.7000a>g p.n2334d AD/AR/Mit AB USH2A NM_ NP_ c.7068t>g p.n2356k AD/Mit, sporadic, unknown AB USH2A NM_ NP_ c.9259g>a p.v3087i AD AB USH2A NM_ NP_ c.10852g>a p.g3618s sporadic AB USH2A NM_ NP_ c.10904c>a p.t3635n AD/Mit AB USH2A NM_ NP_ c.10999a>c p.t3667p sporadic AB USH2A NM_ NP_ c.14017t>c p.y4673h AR AB USH2A NM_ NP_ c.15233c>g p.p5078r AD AB USP11 NM_ NP_ c.484g>a p.a162t sporadic AB WFS1 NM_ NP_ c.449c>t p.a150v AD/Mit AB WFS1 NM_ NP_ c.908t>c p.l303p AD AB WNK2 NM_ NP_ c.947c>t p.t316m sporadic AB WNK2 NM_ NP_ c.1703c>t p.p568l sporadic AB WNK2 NM_ NP_ c.5951c>t p.p1984l sporadic AB839164
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