Gene symbol | Disease | Reference mRNA | Nucleotide change | Amino acid change | Genomic position (GRCh37) | dbSNP ID | MAF (1000G) | MAF (ESP6500) | MAF (ExAC) |
---|---|---|---|---|---|---|---|---|---|
MYO15A | DFNB3 | NM_016239.3 | c.419del | p.(Lys140SerfsTer304) | NC_000017.10:g.18022533del | rs750130520 | 0 | 0 | 8.38E−06 |
MYO15A | DFNB3 | NM_016239.3 | c.1185dup | p.(Glu396ArgfsTer36) | NC_000017.10:g.18023299dup | rs876657707 | 0 | 5.04E−04 | 1.49E−04 |
MYO15A | DFNB3 | NM_016239.3 | c.8450G>C | p.(Arg2817Pro) | NC_000017.10:g.18058737G>C | rs761861080 | 0 | 0 | 8.26E−06 |
MYO15A | DFNB3 | NM_016239.3 | c.8969del | p.(Gly2990ValfsTer44) | NC_000017.10:g.18061838del | – | 0 | 0 | 0 |
MYO15A | DFNB3 | NM_016239.3 | c.9690+1G>A | p.? (splice mut) | NC_000017.10:g.18066636G>A | – | 0 | 0 | 0 |
MYO15A | DFNB3 | NM_016239.3 | c.9938A>C | p.(His3313Pro) | NC_000017.10:g.18069825A>C | – | 0 | 0 | 0 |
CDH23 | DFNB12/USH1D | NM_022124.5 | c.719C>T | p.(Pro240Leu) | NC_000010.10:g.73330641C>T | rs121908354 | 0 | 0 | 0 |
CDH23 | DFNB12/USH1D | NM_022124.5 | c.7802T>C | p.(Val2601Ala) | NC_000010.10:g.73563107T>C | – | 0 | 0 | 0 |
CDH23 | DFNB12/USH1D | NM_022124.5 | c.805C>T | p.(Arg269Trp) | NC_000010.10:g.73337722C>T | rs936479651 | 0 | 0 | 0 |
PDZD7 | DFNB57 | NM_001195263.1 | c.490C>T | p.(Arg164Trp) | NC_000010.10:g.102783245G>A | rs200664140 | 0 | 0 | 4.94E−05 |
PDZD7 | DFNB57 | NM_001195263.1 | c.494G>C | p.(Arg165Pro) | NC_000010.10:g.102783241C>G | – | 0 | 0 | 0 |
PDZD7 | DFNB57 | NM_001195263.1 | c.503G>C | p.(Arg168Pro) | NC_000010.10:g.102783232C>G | – | 0 | 0 | 0 |
OTOF | DFNB9 | NM_001287489.2 | c.5816G>A | p.(Arg1939Gln) | NC_000002.11:g.26681086C>T | rs201326023 | 0 | 0 | 2.54E−05 |
OTOG | DFNB18B | NM_001277269.1 | c.2116+2_2116+12del | p.? (splice mut) | NC_000011.9:g.17593753_17593763del | – | A | 0 | 0 |
OTOG | DFNB18B | NM_001277269.1 | c.5425C>T | p.(Gln1809Ter) | NC_000011.9:g.17632236C>T | – | 0 | 0 | 0 |
PTPN11 | NS1 | NM_002834.3 | c.836A>G | p.(Tyr279Cys) | NC_000012.11:g.112910827A>G | rs121918456 | 0 | 0 | 0 |
PTPN11 | NS1 | NM_002834.4 | c.1529A>G | p.(Gln510Arg) | NC_000012.11:g.112926909A>G | rs121918470 | 0 | 0 | 8.24E−06 |
SOX10 | WS 2E/4C/PCWH | NM_006941.3 | c.570C>A | p.(Cys190Ter) | NC_000022.10:g.38374001G>T | – | 0 | 0 | 0 |
SOX10 | WS 2E/4C/PCWH | NM_006941.3 | c.1122del | p.(Thr375ProfsTer127) | NC_000022.10:g.38369782del | – | 0 | 0 | 0 |
EYA1 | BOR, BOS | NM_000503.5 | c.1082G>A | p.(Arg361Gln) | NC_000008.10:g.72156896C>T | rs145219836 | 0.001 | 0 | 4.12E−05 |
ZNF335 | MCPH10 | NM_022095.3 | c.1399T>C | p.(Cys467Arg) | NC_000020.10:g.44592246A>G | – | 0 | 0 | 0 |
ZNF335 | MCPH10 | NM_022095.3 | c.1505A>G | p.(Tyr502Cys) | NC_000020.10:g.44592140T>C | rs753888773 | 0 | 0 | 8.24E−06 |
STRC | DFNB16 | NM_153700.2 | c.(?_-1)_(*1_?)del | – | – | – | – | – | – |
MYO6 | DFNA22 | NM_004999.3 | c.1325G>A | p.(Cys442Tyr) | NC_000006.11:g.76566915G>A | rs121912557 | 0 | 0 | 0 |
Gene symbol | MAF (gnomAD) | MAF (HGVD) | MAF (in house) | REVEL†| CADD‡ | UCSC conservation§ | Splice site (MaxEntScan) | Splice site (HSF3.1) | ACMG criteria | References (PubMED) |
---|---|---|---|---|---|---|---|---|---|---|
MYO15A | 8.40E−06 | 0 | 0 | – | – | – | – | – | PVS1, PM2_Supporting | 4783301 |
MYO15A | 0 | 0 | 0 | – | – | – | – | – | PVS1, PM2_Supporting, PP1 | 3534775 |
MYO15A | 4.08E−06 | 0 | 0 | 0.772 | 26.7 | 12/12, 41/47, 28/29 | – | – | PVS1, PS1, PM2_Supporting, PM5 | This study |
MYO15A | 0 | 0 | 0 | – | – | – | – | – | PVS1, PM2, PM2_Supporting, PP1 | This study |
MYO15A | 0 | 0 | 0 | – | 32 | 12/12, 48/48, 28/29 | 8.59 to 0.41 | Affected (− 32.17%) | PVS1, PM2_Supporting | 4444116 |
MYO15A | 0 | 0 | 0 | 0.83 | 27.3 | 12/12, 49/49, 35/36 | – | – | PM2_Supporting, PP3 | This study |
CDH23 | 0.00004062 | 0.002 | 0.003 | 0.516 | 29.5 | 11/11, 49/49, 36/36 | – | – | PM2_Supporting, PP1 | 17850630, 4451718 |
CDH23 | 0 | 0 | 0 | 0.777 | 26.4 | 12/12, 47/47, 36/37 | – | – | PM2_Supporting, PM3 | This study |
CDH23 | 0.000008749 | 0 | 0 | 0.439 | 27.4 | 12/12, 49/49, 30/30 | – | – | PM2_Supporting, PM3 | This study |
PDZD7 | 5.28E−05 | 0.002 | 0 | 0.377 | 24.1 | 12/12, 49/49, 37/37 | – | – | PM2_Supporting, PP1 | 31454969 |
PDZD7 | 0.000004064 | 0 | 0 | 0.622 | 29.4 | 12/12, 49/49, 37/37 | – | – | PM2_Supporting, PM3 | This study |
PDZD7 | 0 | 0 | 0 | 0.123 | 25.1 | 12/12, 49/49,17/38 | – | – | PM2_Supporting, PM3 | This study |
OTOF | 3.38E−05 | 0.002 | 0 | 0.86 | 20.9 | 11/11, 37/48, 31/34 | – | – | PM2_Supporting, PP1, PP3 | 1735255, 22575033 |
OTOG | 0 | 0 | 0 | . | . | – | 10.90 to − 9.39 | Affected (− 52.79%) | PVS1, PM2_Supporting | This study |
OTOG | 0 | 0 | 0 | . | 40 | – | – | – | PVS1, PM2_Supporting | This study |
PTPN11 | 0 | 0 | 0 | 0.973 | 31 | 12/12, 49/49, 32/32 | – | – | PS1, PS2, PM2_Supporting, PP4 | 11992261 |
PTPN11 | 4.06E−06 | 0 | 0 | 0.959 | 28 | 12/12, 49/49, 37/37 | – | – | PS1, PS2, PM1, PM2_Supporting, PM5, PP1, PP3, PP5 | 15948193 |
SOX10 | 0 | 0 | 0 | 0.211 | 28.4 | – | – | – | PVS1, PS2, PM2_Supporting, PP4 | This study |
SOX10 | 0 | 0 | 0 | . | . | – | – | – | PVS1, PS2, PM2_Supporting, PP4 | This study |
EYA1 | 4.08E−05 | 0 | 0 | 0.642 | 24 | 12/12, 48/48, 38/38 | – | – | PM1, PM2_Supporting, PP1 | This study |
ZNF335 | 0 | 0 | 0 | 0.808 | 29 | – | – | – | PM2_Supporting | 27540107 |
ZNF335 | 8.14E−06 | 0 | 0 | 0.466 | 29.1 | – | – | – | PM2_Supporting | 27540107 |
STRC | – | – | – | – | – | – | – | – | PVS1 | 26011646, 27469136 |
MYO6 | 0 | 0 | 0 | 0.959 | 29.8 | 12/12, 50/50, 36/36 | – | – | PS1, PS2, PM2_Supporting, PP3 | 1235492 |