| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.21709996C>A | CA395062435 | OTOA | c.1213C>A (p.Leu405Ile) c.*27C>A (n.*27C>A) c.1255C>A (p.Leu419Ile) c.976C>A (p.Leu326Ile) c.241C>A (p.Leu81Ile) n.433C>A c.82C>A (p.Leu28Ile) n.308C>A | |
| 16 | g.21709996C= | CA2212563482 | OTOA | c.1213C= (p.Leu405=) c.*27C= (n.*27C=) c.1255C= (p.Leu419=) c.976C= (p.Leu326=) c.241C= (p.Leu81=) n.433C= c.82C= (p.Leu28=) n.308C= | |
| 16 | g.21709996C>G | CA395062437 | OTOA | c.1213C>G (p.Leu405Val) c.*27C>G (n.*27C>G) c.1255C>G (p.Leu419Val) c.976C>G (p.Leu326Val) c.241C>G (p.Leu81Val) n.433C>G c.82C>G (p.Leu28Val) n.308C>G | |
| 16 | g.21709996C>T | CA7952565 | OTOA | c.1213C>T (p.Leu405Phe) c.*27C>T (n.*27C>T) c.1255C>T (p.Leu419Phe) c.976C>T (p.Leu326Phe) c.241C>T (p.Leu81Phe) n.433C>T c.82C>T (p.Leu28Phe) n.308C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709997T>A | CA395062444 | OTOA | c.1214T>A (p.Leu405His) c.*28T>A (n.*28T>A) c.1256T>A (p.Leu419His) c.977T>A (p.Leu326His) c.242T>A (p.Leu81His) n.434T>A c.83T>A (p.Leu28His) n.309T>A | |
| 16 | g.21709997T>C | CA395062442 | OTOA | c.1214T>C (p.Leu405Pro) c.*28T>C (n.*28T>C) c.1256T>C (p.Leu419Pro) c.977T>C (p.Leu326Pro) c.242T>C (p.Leu81Pro) n.434T>C c.83T>C (p.Leu28Pro) n.309T>C | |
| 16 | g.21709997T>G | CA395062441 | OTOA | c.1214T>G (p.Leu405Arg) c.*28T>G (n.*28T>G) c.1256T>G (p.Leu419Arg) c.977T>G (p.Leu326Arg) c.242T>G (p.Leu81Arg) n.434T>G c.83T>G (p.Leu28Arg) n.309T>G | |
| 16 | g.21709998C>A | CA494117555 | OTOA | c.1215C>A (p.Leu405=) c.*29C>A (n.*29C>A) c.1257C>A (p.Leu419=) c.978C>A (p.Leu326=) c.243C>A (p.Leu81=) n.435C>A c.84C>A (p.Leu28=) n.310C>A | |
| 16 | g.21709998C= | CA2212563486 | OTOA | c.1215C= (p.Leu405=) c.*29C= (n.*29C=) c.1257C= (p.Leu419=) c.978C= (p.Leu326=) c.243C= (p.Leu81=) n.435C= c.84C= (p.Leu28=) n.310C= | |
| 16 | g.21709998C>G | CA494117556 | OTOA | c.1215C>G (p.Leu405=) c.*29C>G (n.*29C>G) c.1257C>G (p.Leu419=) c.978C>G (p.Leu326=) c.243C>G (p.Leu81=) n.435C>G c.84C>G (p.Leu28=) n.310C>G | |
| 16 | g.21709998C>T | CA7952566 | OTOA | c.1215C>T (p.Leu405=) c.*29C>T (n.*29C>T) c.1257C>T (p.Leu419=) c.978C>T (p.Leu326=) c.243C>T (p.Leu81=) n.435C>T c.84C>T (p.Leu28=) n.310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709999T>A | CA395062449 | OTOA | c.1216T>A (p.Ser406Thr) c.*30T>A (n.*30T>A) c.1258T>A (p.Ser420Thr) c.979T>A (p.Ser327Thr) c.244T>A (p.Ser82Thr) n.436T>A c.85T>A (p.Ser29Thr) n.311T>A | |
| 16 | g.21709999T>C | CA395062451 | OTOA | c.1216T>C (p.Ser406Pro) c.*30T>C (n.*30T>C) c.1258T>C (p.Ser420Pro) c.979T>C (p.Ser327Pro) c.244T>C (p.Ser82Pro) n.436T>C c.85T>C (p.Ser29Pro) n.311T>C | gnomAD v4 |
| 16 | g.21709999T>G | CA395062453 | OTOA | c.1216T>G (p.Ser406Ala) c.*30T>G (n.*30T>G) c.1258T>G (p.Ser420Ala) c.979T>G (p.Ser327Ala) c.244T>G (p.Ser82Ala) n.436T>G c.85T>G (p.Ser29Ala) n.311T>G | |
| 16 | g.21710000C>A | CA395062456 | OTOA | c.1217C>A (p.Ser406Tyr) c.*31C>A (n.*31C>A) c.1259C>A (p.Ser420Tyr) c.980C>A (p.Ser327Tyr) c.245C>A (p.Ser82Tyr) n.437C>A c.86C>A (p.Ser29Tyr) n.312C>A | dbSNP gnomAD v4 |
| 16 | g.21710000C= | CA2212563490 | OTOA | c.1217C= (p.Ser406=) c.*31C= (n.*31C=) c.1259C= (p.Ser420=) c.980C= (p.Ser327=) c.245C= (p.Ser82=) n.437C= c.86C= (p.Ser29=) n.312C= | |
| 16 | g.21710000C>G | CA395062458 | OTOA | c.1217C>G (p.Ser406Cys) c.*31C>G (n.*31C>G) c.1259C>G (p.Ser420Cys) c.980C>G (p.Ser327Cys) c.245C>G (p.Ser82Cys) n.437C>G c.86C>G (p.Ser29Cys) n.312C>G | |
| 16 | g.21710000C>T | CA395062460 | OTOA | c.1217C>T (p.Ser406Phe) c.*31C>T (n.*31C>T) c.1259C>T (p.Ser420Phe) c.980C>T (p.Ser327Phe) c.245C>T (p.Ser82Phe) n.437C>T c.86C>T (p.Ser29Phe) n.312C>T | dbSNP |
| 16 | g.21710004del | CA2499223395 | OTOA | c.1221del (p.Glu408ArgfsTer?) c.*35del (n.*35del) c.1263del (p.Glu422ArgfsTer?) c.984del (p.Glu329ArgfsTer?) c.249del (p.Glu84ArgfsTer?) n.441del c.90del (p.Glu31ArgfsTer?) n.316del | ClinVar dbSNP |
| 16 | g.21710001C>A | CA494117557 | OTOA | c.1218C>A (p.Ser406=) c.*32C>A (n.*32C>A) c.1260C>A (p.Ser420=) c.981C>A (p.Ser327=) c.246C>A (p.Ser82=) n.438C>A c.87C>A (p.Ser29=) n.313C>A | |
| 16 | g.21710001C>G | CA494117558 | OTOA | c.1218C>G (p.Ser406=) c.*32C>G (n.*32C>G) c.1260C>G (p.Ser420=) c.981C>G (p.Ser327=) c.246C>G (p.Ser82=) n.438C>G c.87C>G (p.Ser29=) n.313C>G | |
| 16 | g.21710001C>T | CA494117559 | OTOA | c.1218C>T (p.Ser406=) c.*32C>T (n.*32C>T) c.1260C>T (p.Ser420=) c.981C>T (p.Ser327=) c.246C>T (p.Ser82=) n.438C>T c.87C>T (p.Ser29=) n.313C>T | |
| 16 | g.21710002C>A | CA395062463 | OTOA | c.1219C>A (p.Pro407Thr) c.*33C>A (n.*33C>A) c.1261C>A (p.Pro421Thr) c.982C>A (p.Pro328Thr) c.247C>A (p.Pro83Thr) n.439C>A c.88C>A (p.Pro30Thr) n.314C>A | |
| 16 | g.21710002C= | CA2212563496 | OTOA | c.1219C= (p.Pro407=) c.*33C= (n.*33C=) c.1261C= (p.Pro421=) c.982C= (p.Pro328=) c.247C= (p.Pro83=) n.439C= c.88C= (p.Pro30=) n.314C= | |
| 16 | g.21710002C>G | CA395062465 | OTOA | c.1219C>G (p.Pro407Ala) c.*33C>G (n.*33C>G) c.1261C>G (p.Pro421Ala) c.982C>G (p.Pro328Ala) c.247C>G (p.Pro83Ala) n.439C>G c.88C>G (p.Pro30Ala) n.314C>G | |
| 16 | g.21710002C>T | CA7952567 | OTOA | c.1219C>T (p.Pro407Ser) c.*33C>T (n.*33C>T) c.1261C>T (p.Pro421Ser) c.982C>T (p.Pro328Ser) c.247C>T (p.Pro83Ser) n.439C>T c.88C>T (p.Pro30Ser) n.314C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710003C>A | CA395062468 | OTOA | c.1220C>A (p.Pro407His) c.*34C>A (n.*34C>A) c.1262C>A (p.Pro421His) c.983C>A (p.Pro328His) c.248C>A (p.Pro83His) n.440C>A c.89C>A (p.Pro30His) n.315C>A | |
| 16 | g.21710003C>G | CA395062469 | OTOA | c.1220C>G (p.Pro407Arg) c.*34C>G (n.*34C>G) c.1262C>G (p.Pro421Arg) c.983C>G (p.Pro328Arg) c.248C>G (p.Pro83Arg) n.440C>G c.89C>G (p.Pro30Arg) n.315C>G | |
| 16 | g.21710003C>T | CA395062472 | OTOA | c.1220C>T (p.Pro407Leu) c.*34C>T (n.*34C>T) c.1262C>T (p.Pro421Leu) c.983C>T (p.Pro328Leu) c.248C>T (p.Pro83Leu) n.440C>T c.89C>T (p.Pro30Leu) n.315C>T | |
| 16 | g.21710004C>A | CA494117560 | OTOA | c.1221C>A (p.Pro407=) c.*35C>A (n.*35C>A) c.1263C>A (p.Pro421=) c.984C>A (p.Pro328=) c.249C>A (p.Pro83=) n.441C>A c.90C>A (p.Pro30=) n.316C>A | |
| 16 | g.21710004C= | CA2212563497 | OTOA | c.1221C= (p.Pro407=) c.*35C= (n.*35C=) c.1263C= (p.Pro421=) c.984C= (p.Pro328=) c.249C= (p.Pro83=) n.441C= c.90C= (p.Pro30=) n.316C= | |
| 16 | g.21710004C>G | CA494117561 | OTOA | c.1221C>G (p.Pro407=) c.*35C>G (n.*35C>G) c.1263C>G (p.Pro421=) c.984C>G (p.Pro328=) c.249C>G (p.Pro83=) n.441C>G c.90C>G (p.Pro30=) n.316C>G | |
| 16 | g.21710004C>T | CA7952568 | OTOA | c.1221C>T (p.Pro407=) c.*35C>T (n.*35C>T) c.1263C>T (p.Pro421=) c.984C>T (p.Pro328=) c.249C>T (p.Pro83=) n.441C>T c.90C>T (p.Pro30=) n.316C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710005G>A | CA7952569 | OTOA | c.1222G>A (p.Glu408Lys) c.*36G>A (n.*36G>A) c.1264G>A (p.Glu422Lys) c.985G>A (p.Glu329Lys) c.250G>A (p.Glu84Lys) n.442G>A c.91G>A (p.Glu31Lys) n.317G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710005G>C | CA395062478 | OTOA | c.1222G>C (p.Glu408Gln) c.*36G>C (n.*36G>C) c.1264G>C (p.Glu422Gln) c.985G>C (p.Glu329Gln) c.250G>C (p.Glu84Gln) n.442G>C c.91G>C (p.Glu31Gln) n.317G>C | gnomAD v4 |
| 16 | g.21710005G= | CA2212563501 | OTOA | c.1222G= (p.Glu408=) c.*36G= (n.*36G=) c.1264G= (p.Glu422=) c.985G= (p.Glu329=) c.250G= (p.Glu84=) n.442G= c.91G= (p.Glu31=) n.317G= | |
| 16 | g.21710005G>T | CA395062480 | OTOA | c.1222G>T (p.Glu408Ter) c.*36G>T (n.*36G>T) c.1264G>T (p.Glu422Ter) c.985G>T (p.Glu329Ter) c.250G>T (p.Glu84Ter) n.442G>T c.91G>T (p.Glu31Ter) n.317G>T | |
| 16 | g.21710006A>C | CA395062483 | OTOA | c.1223A>C (p.Glu408Ala) c.*37A>C (n.*37A>C) c.1265A>C (p.Glu422Ala) c.986A>C (p.Glu329Ala) c.251A>C (p.Glu84Ala) n.443A>C c.92A>C (p.Glu31Ala) n.318A>C | |
| 16 | g.21710006A>G | CA395062485 | OTOA | c.1223A>G (p.Glu408Gly) c.*37A>G (n.*37A>G) c.1265A>G (p.Glu422Gly) c.986A>G (p.Glu329Gly) c.251A>G (p.Glu84Gly) n.443A>G c.92A>G (p.Glu31Gly) n.318A>G | |
| 16 | g.21710006A>T | CA395062487 | OTOA | c.1223A>T (p.Glu408Val) c.*37A>T (n.*37A>T) c.1265A>T (p.Glu422Val) c.986A>T (p.Glu329Val) c.251A>T (p.Glu84Val) n.443A>T c.92A>T (p.Glu31Val) n.318A>T | |
| 16 | g.21710007G>A | CA494117562 | OTOA | c.1224G>A (p.Glu408=) c.*38G>A (n.*38G>A) c.1266G>A (p.Glu422=) c.987G>A (p.Glu329=) c.252G>A (p.Glu84=) n.444G>A c.93G>A (p.Glu31=) n.319G>A | |
| 16 | g.21710007G>C | CA395062489 | OTOA | c.1224G>C (p.Glu408Asp) c.*38G>C (n.*38G>C) c.1266G>C (p.Glu422Asp) c.987G>C (p.Glu329Asp) c.252G>C (p.Glu84Asp) n.444G>C c.93G>C (p.Glu31Asp) n.319G>C | |
| 16 | g.21710007G>T | CA395062491 | OTOA | c.1224G>T (p.Glu408Asp) c.*38G>T (n.*38G>T) c.1266G>T (p.Glu422Asp) c.987G>T (p.Glu329Asp) c.252G>T (p.Glu84Asp) n.444G>T c.93G>T (p.Glu31Asp) n.319G>T | |
| 16 | g.21710008G>A | CA395062493 | OTOA | c.1225G>A (p.Ala409Thr) c.*39G>A (n.*39G>A) c.1267G>A (p.Ala423Thr) c.988G>A (p.Ala330Thr) c.253G>A (p.Ala85Thr) n.445G>A c.94G>A (p.Ala32Thr) n.320G>A | |
| 16 | g.21710008G>C | CA395062496 | OTOA | c.1225G>C (p.Ala409Pro) c.*39G>C (n.*39G>C) c.1267G>C (p.Ala423Pro) c.988G>C (p.Ala330Pro) c.253G>C (p.Ala85Pro) n.445G>C c.94G>C (p.Ala32Pro) n.320G>C | |
| 16 | g.21710008G>T | CA395062495 | OTOA | c.1225G>T (p.Ala409Ser) c.*39G>T (n.*39G>T) c.1267G>T (p.Ala423Ser) c.988G>T (p.Ala330Ser) c.253G>T (p.Ala85Ser) n.445G>T c.94G>T (p.Ala32Ser) n.320G>T | |
| 16 | g.21710009C>A | CA395062499 | OTOA | c.1226C>A (p.Ala409Asp) c.*40C>A (n.*40C>A) c.1268C>A (p.Ala423Asp) c.989C>A (p.Ala330Asp) c.254C>A (p.Ala85Asp) n.446C>A c.95C>A (p.Ala32Asp) n.321C>A | |
| 16 | g.21710009C>G | CA395062501 | OTOA | c.1226C>G (p.Ala409Gly) c.*40C>G (n.*40C>G) c.1268C>G (p.Ala423Gly) c.989C>G (p.Ala330Gly) c.254C>G (p.Ala85Gly) n.446C>G c.95C>G (p.Ala32Gly) n.321C>G | |
| 16 | g.21710009C>T | CA395062503 | OTOA | c.1226C>T (p.Ala409Val) c.*40C>T (n.*40C>T) c.1268C>T (p.Ala423Val) c.989C>T (p.Ala330Val) c.254C>T (p.Ala85Val) n.446C>T c.95C>T (p.Ala32Val) n.321C>T | gnomAD v4 |
| 16 | g.21710010T>A | CA494117563 | OTOA | c.1227T>A (p.Ala409=) c.*41T>A (n.*41T>A) c.1269T>A (p.Ala423=) c.990T>A (p.Ala330=) c.255T>A (p.Ala85=) n.447T>A c.96T>A (p.Ala32=) n.322T>A | |
| 16 | g.21710010T>C | CA494117564 | OTOA | c.1227T>C (p.Ala409=) c.*41T>C (n.*41T>C) c.1269T>C (p.Ala423=) c.990T>C (p.Ala330=) c.255T>C (p.Ala85=) n.447T>C c.96T>C (p.Ala32=) n.322T>C | |
| 16 | g.21710010T>G | CA494117565 | OTOA | c.1227T>G (p.Ala409=) c.*41T>G (n.*41T>G) c.1269T>G (p.Ala423=) c.990T>G (p.Ala330=) c.255T>G (p.Ala85=) n.447T>G c.96T>G (p.Ala32=) n.322T>G | |
| 16 | g.21710011G>A | CA7952570 | OTOA | c.1228G>A (p.Val410Met) c.*42G>A (n.*42G>A) c.1270G>A (p.Val424Met) c.991G>A (p.Val331Met) c.256G>A (p.Val86Met) n.448G>A c.97G>A (p.Val33Met) n.323G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710011G>C | CA395062507 | OTOA | c.1228G>C (p.Val410Leu) c.*42G>C (n.*42G>C) c.1270G>C (p.Val424Leu) c.991G>C (p.Val331Leu) c.256G>C (p.Val86Leu) n.448G>C c.97G>C (p.Val33Leu) n.323G>C | |
| 16 | g.21710011G= | CA2212563507 | OTOA | c.1228G= (p.Val410=) c.*42G= (n.*42G=) c.1270G= (p.Val424=) c.991G= (p.Val331=) c.256G= (p.Val86=) n.448G= c.97G= (p.Val33=) n.323G= | |
| 16 | g.21710011G>T | CA395062509 | OTOA | c.1228G>T (p.Val410Leu) c.*42G>T (n.*42G>T) c.1270G>T (p.Val424Leu) c.991G>T (p.Val331Leu) c.256G>T (p.Val86Leu) n.448G>T c.97G>T (p.Val33Leu) n.323G>T | gnomAD v4 |
| 16 | g.21710012T>A | CA395062512 | OTOA | c.1229T>A (p.Val410Glu) c.*43T>A (n.*43T>A) c.1271T>A (p.Val424Glu) c.992T>A (p.Val331Glu) c.257T>A (p.Val86Glu) n.449T>A c.98T>A (p.Val33Glu) n.324T>A | |
| 16 | g.21710012T>C | CA395062514 | OTOA | c.1229T>C (p.Val410Ala) c.*43T>C (n.*43T>C) c.1271T>C (p.Val424Ala) c.992T>C (p.Val331Ala) c.257T>C (p.Val86Ala) n.449T>C c.98T>C (p.Val33Ala) n.324T>C | |
| 16 | g.21710012T>G | CA395062516 | OTOA | c.1229T>G (p.Val410Gly) c.*43T>G (n.*43T>G) c.1271T>G (p.Val424Gly) c.992T>G (p.Val331Gly) c.257T>G (p.Val86Gly) n.449T>G c.98T>G (p.Val33Gly) n.324T>G | |
| 16 | g.21710013G>A | CA494117566 | OTOA | c.1230G>A (p.Val410=) c.*44G>A (n.*44G>A) c.1272G>A (p.Val424=) c.993G>A (p.Val331=) c.258G>A (p.Val86=) n.450G>A c.99G>A (p.Val33=) n.325G>A | |
| 16 | g.21710013G>C | CA494117567 | OTOA | c.1230G>C (p.Val410=) c.*44G>C (n.*44G>C) c.1272G>C (p.Val424=) c.993G>C (p.Val331=) c.258G>C (p.Val86=) n.450G>C c.99G>C (p.Val33=) n.325G>C | |
| 16 | g.21710013G= | CA2212563511 | OTOA | c.1230G= (p.Val410=) c.*44G= (n.*44G=) c.1272G= (p.Val424=) c.993G= (p.Val331=) c.258G= (p.Val86=) n.450G= c.99G= (p.Val33=) n.325G= | |
| 16 | g.21710013G>T | CA494117568 | OTOA | c.1230G>T (p.Val410=) c.*44G>T (n.*44G>T) c.1272G>T (p.Val424=) c.993G>T (p.Val331=) c.258G>T (p.Val86=) n.450G>T c.99G>T (p.Val33=) n.325G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710014C>A | CA395062518 | OTOA | c.1231C>A (p.His411Asn) c.*45C>A (n.*45C>A) c.1273C>A (p.His425Asn) c.994C>A (p.His332Asn) c.259C>A (p.His87Asn) n.451C>A c.100C>A (p.His34Asn) n.326C>A | |
| 16 | g.21710014C>G | CA395062520 | OTOA | c.1231C>G (p.His411Asp) c.*45C>G (n.*45C>G) c.1273C>G (p.His425Asp) c.994C>G (p.His332Asp) c.259C>G (p.His87Asp) n.451C>G c.100C>G (p.His34Asp) n.326C>G | |
| 16 | g.21710014C>T | CA395062522 | OTOA | c.1231C>T (p.His411Tyr) c.*45C>T (n.*45C>T) c.1273C>T (p.His425Tyr) c.994C>T (p.His332Tyr) c.259C>T (p.His87Tyr) n.451C>T c.100C>T (p.His34Tyr) n.326C>T | |
| 16 | g.21710015A= | CA2212563514 | OTOA | c.1232A= (p.His411=) c.*46A= (n.*46A=) c.1274A= (p.His425=) c.995A= (p.His332=) c.260A= (p.His87=) n.452A= c.101A= (p.His34=) n.327A= | |
| 16 | g.21710015A>C | CA395062528 | OTOA | c.1232A>C (p.His411Pro) c.*46A>C (n.*46A>C) c.1274A>C (p.His425Pro) c.995A>C (p.His332Pro) c.260A>C (p.His87Pro) n.452A>C c.101A>C (p.His34Pro) n.327A>C | dbSNP gnomAD v4 |
| 16 | g.21710015A>G | CA7952571 | OTOA | c.1232A>G (p.His411Arg) c.*46A>G (n.*46A>G) c.1274A>G (p.His425Arg) c.995A>G (p.His332Arg) c.260A>G (p.His87Arg) n.452A>G c.101A>G (p.His34Arg) n.327A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710015A>T | CA395062525 | OTOA | c.1232A>T (p.His411Leu) c.*46A>T (n.*46A>T) c.1274A>T (p.His425Leu) c.995A>T (p.His332Leu) c.260A>T (p.His87Leu) n.452A>T c.101A>T (p.His34Leu) n.327A>T | |
| 16 | g.21710016C>A | CA395062531 | OTOA | c.1233C>A (p.His411Gln) c.*47C>A (n.*47C>A) c.1275C>A (p.His425Gln) c.996C>A (p.His332Gln) c.261C>A (p.His87Gln) n.453C>A c.102C>A (p.His34Gln) n.328C>A | gnomAD v4 |
| 16 | g.21710016C= | CA2212563516 | OTOA | c.1233C= (p.His411=) c.*47C= (n.*47C=) c.1275C= (p.His425=) c.996C= (p.His332=) c.261C= (p.His87=) n.453C= c.102C= (p.His34=) n.328C= | |
| 16 | g.21710016C>G | CA395062533 | OTOA | c.1233C>G (p.His411Gln) c.*47C>G (n.*47C>G) c.1275C>G (p.His425Gln) c.996C>G (p.His332Gln) c.261C>G (p.His87Gln) n.453C>G c.102C>G (p.His34Gln) n.328C>G | |
| 16 | g.21710016C>T | CA7952572 | OTOA | c.1233C>T (p.His411=) c.*47C>T (n.*47C>T) c.1275C>T (p.His425=) c.996C>T (p.His332=) c.261C>T (p.His87=) n.453C>T c.102C>T (p.His34=) n.328C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710017G>A | CA7952573 | OTOA | c.1234G>A (p.Gly412Arg) c.*48G>A (n.*48G>A) c.1276G>A (p.Gly426Arg) c.997G>A (p.Gly333Arg) c.262G>A (p.Gly88Arg) n.454G>A c.103G>A (p.Gly35Arg) n.329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710017G>C | CA395062537 | OTOA | c.1234G>C (p.Gly412Arg) c.*48G>C (n.*48G>C) c.1276G>C (p.Gly426Arg) c.997G>C (p.Gly333Arg) c.262G>C (p.Gly88Arg) n.454G>C c.103G>C (p.Gly35Arg) n.329G>C | |
| 16 | g.21710017G= | CA2212563524 | OTOA | c.1234G= (p.Gly412=) c.*48G= (n.*48G=) c.1276G= (p.Gly426=) c.997G= (p.Gly333=) c.262G= (p.Gly88=) n.454G= c.103G= (p.Gly35=) n.329G= | |
| 16 | g.21710017G>T | CA395062538 | OTOA | c.1234G>T (p.Gly412Ter) c.*48G>T (n.*48G>T) c.1276G>T (p.Gly426Ter) c.997G>T (p.Gly333Ter) c.262G>T (p.Gly88Ter) n.454G>T c.103G>T (p.Gly35Ter) n.329G>T | |
| 16 | g.21710018G>A | CA395062541 | OTOA | c.1235G>A (p.Gly412Glu) c.*49G>A (n.*49G>A) c.1277G>A (p.Gly426Glu) c.998G>A (p.Gly333Glu) c.263G>A (p.Gly88Glu) n.455G>A c.104G>A (p.Gly35Glu) n.330G>A | |
| 16 | g.21710018G>C | CA395062543 | OTOA | c.1235G>C (p.Gly412Ala) c.*49G>C (n.*49G>C) c.1277G>C (p.Gly426Ala) c.998G>C (p.Gly333Ala) c.263G>C (p.Gly88Ala) n.455G>C c.104G>C (p.Gly35Ala) n.330G>C | |
| 16 | g.21710018G>T | CA395062545 | OTOA | c.1235G>T (p.Gly412Val) c.*49G>T (n.*49G>T) c.1277G>T (p.Gly426Val) c.998G>T (p.Gly333Val) c.263G>T (p.Gly88Val) n.455G>T c.104G>T (p.Gly35Val) n.330G>T | |
| 16 | g.21710019A= | CA2212563527 | OTOA | c.1236A= (p.Gly412=) c.*50A= (n.*50A=) c.1278A= (p.Gly426=) c.999A= (p.Gly333=) c.264A= (p.Gly88=) n.456A= c.105A= (p.Gly35=) n.331A= | |
| 16 | g.21710019A>C | CA494117569 | OTOA | c.1236A>C (p.Gly412=) c.*50A>C (n.*50A>C) c.1278A>C (p.Gly426=) c.999A>C (p.Gly333=) c.264A>C (p.Gly88=) n.456A>C c.105A>C (p.Gly35=) n.331A>C | |
| 16 | g.21710019A>G | CA494117570 | OTOA | c.1236A>G (p.Gly412=) c.*50A>G (n.*50A>G) c.1278A>G (p.Gly426=) c.999A>G (p.Gly333=) c.264A>G (p.Gly88=) n.456A>G c.105A>G (p.Gly35=) n.331A>G | dbSNP |
| 16 | g.21710019A>T | CA494117571 | OTOA | c.1236A>T (p.Gly412=) c.*50A>T (n.*50A>T) c.1278A>T (p.Gly426=) c.999A>T (p.Gly333=) c.264A>T (p.Gly88=) n.456A>T c.105A>T (p.Gly35=) n.331A>T | gnomAD v4 |
| 16 | g.21710020G>A | CA395062547 | OTOA | c.1237G>A (p.Ala413Thr) c.*51G>A (n.*51G>A) c.1279G>A (p.Ala427Thr) c.1000G>A (p.Ala334Thr) c.265G>A (p.Ala89Thr) n.457G>A c.106G>A (p.Ala36Thr) n.332G>A | |
| 16 | g.21710020G>C | CA395062548 | OTOA | c.1237G>C (p.Ala413Pro) c.*51G>C (n.*51G>C) c.1279G>C (p.Ala427Pro) c.1000G>C (p.Ala334Pro) c.265G>C (p.Ala89Pro) n.457G>C c.106G>C (p.Ala36Pro) n.332G>C | dbSNP |
| 16 | g.21710020G= | CA2212563531 | OTOA | c.1237G= (p.Ala413=) c.*51G= (n.*51G=) c.1279G= (p.Ala427=) c.1000G= (p.Ala334=) c.265G= (p.Ala89=) n.457G= c.106G= (p.Ala36=) n.332G= | |
| 16 | g.21710020G>T | CA395062550 | OTOA | c.1237G>T (p.Ala413Ser) c.*51G>T (n.*51G>T) c.1279G>T (p.Ala427Ser) c.1000G>T (p.Ala334Ser) c.265G>T (p.Ala89Ser) n.457G>T c.106G>T (p.Ala36Ser) n.332G>T | |
| 16 | g.21710020_21710023delinsGCCA | CA2212563535 | OTOA | c.1237_1240delinsGCCA (p.Ala413=) c.*51_*54delinsGCCA (n.*51_*54delinsGCCA) c.1279_1282delinsGCCA (p.Ala427=) c.1000_1003delinsGCCA (p.Ala334=) c.265_268delinsGCCA (p.Ala89=) n.457_460delinsGCCA c.106_109delinsGCCA (p.Ala36=) n.332_335delinsGCCA | |
| 16 | g.21710021C>A | CA395062554 | OTOA | c.1238C>A (p.Ala413Asp) c.*52C>A (n.*52C>A) c.1280C>A (p.Ala427Asp) c.1001C>A (p.Ala334Asp) c.266C>A (p.Ala89Asp) n.458C>A c.107C>A (p.Ala36Asp) n.333C>A | |
| 16 | g.21710021C>G | CA395062558 | OTOA | c.1238C>G (p.Ala413Gly) c.*52C>G (n.*52C>G) c.1280C>G (p.Ala427Gly) c.1001C>G (p.Ala334Gly) c.266C>G (p.Ala89Gly) n.458C>G c.107C>G (p.Ala36Gly) n.333C>G | |
| 16 | g.21710021C>T | CA395062556 | OTOA | c.1238C>T (p.Ala413Val) c.*52C>T (n.*52C>T) c.1280C>T (p.Ala427Val) c.1001C>T (p.Ala334Val) c.266C>T (p.Ala89Val) n.458C>T c.107C>T (p.Ala36Val) n.333C>T | gnomAD v4 |
| 16 | g.21710021_21710023del | CA719090335 | OTOA | c.1238_1240del (p.Ala413_Ile414delinsVal) c.*52_*54del (n.*52_*54del) c.1280_1282del (p.Ala427_Ile428delinsVal) c.1001_1003del (p.Ala334_Ile335delinsVal) c.266_268del (p.Ala89_Ile90delinsVal) n.458_460del c.107_109del (p.Ala36_Ile37delinsVal) n.333_335del | dbSNP |
| 16 | g.21710022_21710045dup | CA2632220218 | OTOA | c.1239_1262dup (p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer) c.*53_*76dup (n.*53_*76dup) c.1281_1304dup (p.Ser435_Gly436insIleSerThrLeuAsnGlnValSer) c.1002_1025dup (p.Ser342_Gly343insIleSerThrLeuAsnGlnValSer) c.267_290dup (p.Ser97_Gly98insIleSerThrLeuAsnGlnValSer) n.459_482dup c.108_131dup (p.Ser44_Gly45insIleSerThrLeuAsnGlnValSer) n.334_357dup | gnomAD v4 |
| 16 | g.21710022C>A | CA494117572 | OTOA | c.1239C>A (p.Ala413=) c.*53C>A (n.*53C>A) c.1281C>A (p.Ala427=) c.1002C>A (p.Ala334=) c.267C>A (p.Ala89=) n.459C>A c.108C>A (p.Ala36=) n.334C>A | |
| 16 | g.21710022C>G | CA494117573 | OTOA | c.1239C>G (p.Ala413=) c.*53C>G (n.*53C>G) c.1281C>G (p.Ala427=) c.1002C>G (p.Ala334=) c.267C>G (p.Ala89=) n.459C>G c.108C>G (p.Ala36=) n.334C>G | |
| 16 | g.21710022C>T | CA494117574 | OTOA | c.1239C>T (p.Ala413=) c.*53C>T (n.*53C>T) c.1281C>T (p.Ala427=) c.1002C>T (p.Ala334=) c.267C>T (p.Ala89=) n.459C>T c.108C>T (p.Ala36=) n.334C>T | |
| 16 | g.21710023A= | CA2212563546 | OTOA | c.1240A= (p.Ile414=) c.*54A= (n.*54A=) c.1282A= (p.Ile428=) c.1003A= (p.Ile335=) c.268A= (p.Ile90=) n.460A= c.109A= (p.Ile37=) n.335A= | |
| 16 | g.21710023A>C | CA395062562 | OTOA | c.1240A>C (p.Ile414Leu) c.*54A>C (n.*54A>C) c.1282A>C (p.Ile428Leu) c.1003A>C (p.Ile335Leu) c.268A>C (p.Ile90Leu) n.460A>C c.109A>C (p.Ile37Leu) n.335A>C | |
| 16 | g.21710023A>G | CA7952574 | OTOA | c.1240A>G (p.Ile414Val) c.*54A>G (n.*54A>G) c.1282A>G (p.Ile428Val) c.1003A>G (p.Ile335Val) c.268A>G (p.Ile90Val) n.460A>G c.109A>G (p.Ile37Val) n.335A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710023A>T | CA279403738 | OTOA | c.1240A>T (p.Ile414Phe) c.*54A>T (n.*54A>T) c.1282A>T (p.Ile428Phe) c.1003A>T (p.Ile335Phe) c.268A>T (p.Ile90Phe) n.460A>T c.109A>T (p.Ile37Phe) n.335A>T | dbSNP gnomAD v4 |
| 16 | g.21710024T>A | CA395062566 | OTOA | c.1241T>A (p.Ile414Asn) c.*55T>A (n.*55T>A) c.1283T>A (p.Ile428Asn) c.1004T>A (p.Ile335Asn) c.269T>A (p.Ile90Asn) n.461T>A c.110T>A (p.Ile37Asn) n.336T>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21710024T>C | CA395062571 | OTOA | c.1241T>C (p.Ile414Thr) c.*55T>C (n.*55T>C) c.1283T>C (p.Ile428Thr) c.1004T>C (p.Ile335Thr) c.269T>C (p.Ile90Thr) n.461T>C c.110T>C (p.Ile37Thr) n.336T>C | |
| 16 | g.21710024T>G | CA395062574 | OTOA | c.1241T>G (p.Ile414Ser) c.*55T>G (n.*55T>G) c.1283T>G (p.Ile428Ser) c.1004T>G (p.Ile335Ser) c.269T>G (p.Ile90Ser) n.461T>G c.110T>G (p.Ile37Ser) n.336T>G | |
| 16 | g.21710024T= | CA2212563551 | OTOA | c.1241T= (p.Ile414=) c.*55T= (n.*55T=) c.1283T= (p.Ile428=) c.1004T= (p.Ile335=) c.269T= (p.Ile90=) n.461T= c.110T= (p.Ile37=) n.336T= | |
| 16 | g.21710025C>A | CA494117575 | OTOA | c.1242C>A (p.Ile414=) c.*56C>A (n.*56C>A) c.1284C>A (p.Ile428=) c.1005C>A (p.Ile335=) c.270C>A (p.Ile90=) n.462C>A c.111C>A (p.Ile37=) n.337C>A | |
| 16 | g.21710025C>G | CA395062576 | OTOA | c.1242C>G (p.Ile414Met) c.*56C>G (n.*56C>G) c.1284C>G (p.Ile428Met) c.1005C>G (p.Ile335Met) c.270C>G (p.Ile90Met) n.462C>G c.111C>G (p.Ile37Met) n.337C>G | |
| 16 | g.21710025C>T | CA494117576 | OTOA | c.1242C>T (p.Ile414=) c.*56C>T (n.*56C>T) c.1284C>T (p.Ile428=) c.1005C>T (p.Ile335=) c.270C>T (p.Ile90=) n.462C>T c.111C>T (p.Ile37=) n.337C>T | |
| 16 | g.21710026T>A | CA395062578 | OTOA | c.1243T>A (p.Ser415Thr) c.*57T>A (n.*57T>A) c.1285T>A (p.Ser429Thr) c.1006T>A (p.Ser336Thr) c.271T>A (p.Ser91Thr) n.463T>A c.112T>A (p.Ser38Thr) n.338T>A | |
| 16 | g.21710026T>C | CA395062580 | OTOA | c.1243T>C (p.Ser415Pro) c.*57T>C (n.*57T>C) c.1285T>C (p.Ser429Pro) c.1006T>C (p.Ser336Pro) c.271T>C (p.Ser91Pro) n.463T>C c.112T>C (p.Ser38Pro) n.338T>C | |
| 16 | g.21710026T>G | CA395062582 | OTOA | c.1243T>G (p.Ser415Ala) c.*57T>G (n.*57T>G) c.1285T>G (p.Ser429Ala) c.1006T>G (p.Ser336Ala) c.271T>G (p.Ser91Ala) n.463T>G c.112T>G (p.Ser38Ala) n.338T>G | |
| 16 | g.21710026_21710031delinsTCCACC | CA2212563556 | OTOA | c.1243_1248delinsTCCACC (p.Ser415=) c.*57_*62delinsTCCACC (n.*57_*62delinsTCCACC) c.1285_1290delinsTCCACC (p.Ser429=) c.1006_1011delinsTCCACC (p.Ser336=) c.271_276delinsTCCACC (p.Ser91=) n.463_468delinsTCCACC c.112_117delinsTCCACC (p.Ser38=) n.338_343delinsTCCACC | |
| 16 | g.21710027C>A | CA395062584 | OTOA | c.1244C>A (p.Ser415Tyr) c.*58C>A (n.*58C>A) c.1286C>A (p.Ser429Tyr) c.1007C>A (p.Ser336Tyr) c.272C>A (p.Ser91Tyr) n.464C>A c.113C>A (p.Ser38Tyr) n.339C>A | gnomAD v4 |
| 16 | g.21710027C>G | CA395062586 | OTOA | c.1244C>G (p.Ser415Cys) c.*58C>G (n.*58C>G) c.1286C>G (p.Ser429Cys) c.1007C>G (p.Ser336Cys) c.272C>G (p.Ser91Cys) n.464C>G c.113C>G (p.Ser38Cys) n.339C>G | |
| 16 | g.21710027C>T | CA395062588 | OTOA | c.1244C>T (p.Ser415Phe) c.*58C>T (n.*58C>T) c.1286C>T (p.Ser429Phe) c.1007C>T (p.Ser336Phe) c.272C>T (p.Ser91Phe) n.464C>T c.113C>T (p.Ser38Phe) n.339C>T | gnomAD v4 |
| 16 | g.21710028_21710032del | CA2212563558 | OTOA | c.1245_1249del (p.Thr416GlnfsTer22) c.*59_*63del (n.*59_*63del) c.1287_1291del (p.Thr430GlnfsTer22) c.1008_1012del (p.Thr337GlnfsTer22) c.273_277del (p.Thr92GlnfsTer22) n.465_469del c.114_118del (p.Thr39GlnfsTer22) n.340_344del | dbSNP |
| 16 | g.21710028C>A | CA494117577 | OTOA | c.1245C>A (p.Ser415=) c.*59C>A (n.*59C>A) c.1287C>A (p.Ser429=) c.1008C>A (p.Ser336=) c.273C>A (p.Ser91=) n.465C>A c.114C>A (p.Ser38=) n.340C>A | |
| 16 | g.21710028C= | CA2212563559 | OTOA | c.1245C= (p.Ser415=) c.*59C= (n.*59C=) c.1287C= (p.Ser429=) c.1008C= (p.Ser336=) c.273C= (p.Ser91=) n.465C= c.114C= (p.Ser38=) n.340C= | |
| 16 | g.21710028C>G | CA494117578 | OTOA | c.1245C>G (p.Ser415=) c.*59C>G (n.*59C>G) c.1287C>G (p.Ser429=) c.1008C>G (p.Ser336=) c.273C>G (p.Ser91=) n.465C>G c.114C>G (p.Ser38=) n.340C>G | |
| 16 | g.21710028C>T | CA494117579 | OTOA | c.1245C>T (p.Ser415=) c.*59C>T (n.*59C>T) c.1287C>T (p.Ser429=) c.1008C>T (p.Ser336=) c.273C>T (p.Ser91=) n.465C>T c.114C>T (p.Ser38=) n.340C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710029A>C | CA395062591 | OTOA | c.1246A>C (p.Thr416Pro) c.*60A>C (n.*60A>C) c.1288A>C (p.Thr430Pro) c.1009A>C (p.Thr337Pro) c.274A>C (p.Thr92Pro) n.466A>C c.115A>C (p.Thr39Pro) n.341A>C | |
| 16 | g.21710029A>G | CA395062593 | OTOA | c.1246A>G (p.Thr416Ala) c.*60A>G (n.*60A>G) c.1288A>G (p.Thr430Ala) c.1009A>G (p.Thr337Ala) c.274A>G (p.Thr92Ala) n.466A>G c.115A>G (p.Thr39Ala) n.341A>G | |
| 16 | g.21710029A>T | CA395062596 | OTOA | c.1246A>T (p.Thr416Ser) c.*60A>T (n.*60A>T) c.1288A>T (p.Thr430Ser) c.1009A>T (p.Thr337Ser) c.274A>T (p.Thr92Ser) n.466A>T c.115A>T (p.Thr39Ser) n.341A>T | |
| 16 | g.21710030C>A | CA395062599 | OTOA | c.1247C>A (p.Thr416Asn) c.*61C>A (n.*61C>A) c.1289C>A (p.Thr430Asn) c.1010C>A (p.Thr337Asn) c.275C>A (p.Thr92Asn) n.467C>A c.116C>A (p.Thr39Asn) n.342C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21710030C= | CA2212563561 | OTOA | c.1247C= (p.Thr416=) c.*61C= (n.*61C=) c.1289C= (p.Thr430=) c.1010C= (p.Thr337=) c.275C= (p.Thr92=) n.467C= c.116C= (p.Thr39=) n.342C= | |
| 16 | g.21710030C>G | CA395062602 | OTOA | c.1247C>G (p.Thr416Ser) c.*61C>G (n.*61C>G) c.1289C>G (p.Thr430Ser) c.1010C>G (p.Thr337Ser) c.275C>G (p.Thr92Ser) n.467C>G c.116C>G (p.Thr39Ser) n.342C>G | |
| 16 | g.21710030C>T | CA395062600 | OTOA | c.1247C>T (p.Thr416Ile) c.*61C>T (n.*61C>T) c.1289C>T (p.Thr430Ile) c.1010C>T (p.Thr337Ile) c.275C>T (p.Thr92Ile) n.467C>T c.116C>T (p.Thr39Ile) n.342C>T | |
| 16 | g.21710031C>A | CA494117583 | OTOA | c.1248C>A (p.Thr416=) c.*62C>A (n.*62C>A) c.1290C>A (p.Thr430=) c.1011C>A (p.Thr337=) c.276C>A (p.Thr92=) n.468C>A c.117C>A (p.Thr39=) n.343C>A | |
| 16 | g.21710031C>G | CA494117584 | OTOA | c.1248C>G (p.Thr416=) c.*62C>G (n.*62C>G) c.1290C>G (p.Thr430=) c.1011C>G (p.Thr337=) c.276C>G (p.Thr92=) n.468C>G c.117C>G (p.Thr39=) n.343C>G | |
| 16 | g.21710031C>T | CA494117585 | OTOA | c.1248C>T (p.Thr416=) c.*62C>T (n.*62C>T) c.1290C>T (p.Thr430=) c.1011C>T (p.Thr337=) c.276C>T (p.Thr92=) n.468C>T c.117C>T (p.Thr39=) n.343C>T | gnomAD v4 |
| 16 | g.21710032C>A | CA395062605 | OTOA | c.1249C>A (p.Leu417Ile) c.*63C>A (n.*63C>A) c.1291C>A (p.Leu431Ile) c.1012C>A (p.Leu338Ile) c.277C>A (p.Leu93Ile) n.469C>A c.118C>A (p.Leu40Ile) n.344C>A | |
| 16 | g.21710032C= | CA2212563564 | OTOA | c.1249C= (p.Leu417=) c.*63C= (n.*63C=) c.1291C= (p.Leu431=) c.1012C= (p.Leu338=) c.277C= (p.Leu93=) n.469C= c.118C= (p.Leu40=) n.344C= | |
| 16 | g.21710032C>G | CA395062606 | OTOA | c.1249C>G (p.Leu417Val) c.*63C>G (n.*63C>G) c.1291C>G (p.Leu431Val) c.1012C>G (p.Leu338Val) c.277C>G (p.Leu93Val) n.469C>G c.118C>G (p.Leu40Val) n.344C>G | |
| 16 | g.21710032C>T | CA7952575 | OTOA | c.1249C>T (p.Leu417Phe) c.*63C>T (n.*63C>T) c.1291C>T (p.Leu431Phe) c.1012C>T (p.Leu338Phe) c.277C>T (p.Leu93Phe) n.469C>T c.118C>T (p.Leu40Phe) n.344C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710033T>A | CA395062610 | OTOA | c.1250T>A (p.Leu417His) c.*64T>A (n.*64T>A) c.1292T>A (p.Leu431His) c.1013T>A (p.Leu338His) c.278T>A (p.Leu93His) n.470T>A c.119T>A (p.Leu40His) n.345T>A | |
| 16 | g.21710033T>C | CA395062612 | OTOA | c.1250T>C (p.Leu417Pro) c.*64T>C (n.*64T>C) c.1292T>C (p.Leu431Pro) c.1013T>C (p.Leu338Pro) c.278T>C (p.Leu93Pro) n.470T>C c.119T>C (p.Leu40Pro) n.345T>C | |
| 16 | g.21710033T>G | CA395062614 | OTOA | c.1250T>G (p.Leu417Arg) c.*64T>G (n.*64T>G) c.1292T>G (p.Leu431Arg) c.1013T>G (p.Leu338Arg) c.278T>G (p.Leu93Arg) n.470T>G c.119T>G (p.Leu40Arg) n.345T>G | |
| 16 | g.21710034C>A | CA494117587 | OTOA | c.1251C>A (p.Leu417=) c.*65C>A (n.*65C>A) c.1293C>A (p.Leu431=) c.1014C>A (p.Leu338=) c.279C>A (p.Leu93=) n.471C>A c.120C>A (p.Leu40=) n.346C>A | |
| 16 | g.21710034C>G | CA494117588 | OTOA | c.1251C>G (p.Leu417=) c.*65C>G (n.*65C>G) c.1293C>G (p.Leu431=) c.1014C>G (p.Leu338=) c.279C>G (p.Leu93=) n.471C>G c.120C>G (p.Leu40=) n.346C>G | |
| 16 | g.21710034C>T | CA494117589 | OTOA | c.1251C>T (p.Leu417=) c.*65C>T (n.*65C>T) c.1293C>T (p.Leu431=) c.1014C>T (p.Leu338=) c.279C>T (p.Leu93=) n.471C>T c.120C>T (p.Leu40=) n.346C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.21710035A>C | CA395062618 | OTOA | c.1252A>C (p.Asn418His) c.*66A>C (n.*66A>C) c.1294A>C (p.Asn432His) c.1015A>C (p.Asn339His) c.280A>C (p.Asn94His) n.472A>C c.121A>C (p.Asn41His) n.347A>C | |
| 16 | g.21710035A>G | CA395062619 | OTOA | c.1252A>G (p.Asn418Asp) c.*66A>G (n.*66A>G) c.1294A>G (p.Asn432Asp) c.1015A>G (p.Asn339Asp) c.280A>G (p.Asn94Asp) n.472A>G c.121A>G (p.Asn41Asp) n.347A>G | |
| 16 | g.21710035A>T | CA395062620 | OTOA | c.1252A>T (p.Asn418Tyr) c.*66A>T (n.*66A>T) c.1294A>T (p.Asn432Tyr) c.1015A>T (p.Asn339Tyr) c.280A>T (p.Asn94Tyr) n.472A>T c.121A>T (p.Asn41Tyr) n.347A>T | |
| 16 | g.21710036A= | CA2212563568 | OTOA | c.1253A= (p.Asn418=) c.*67A= (n.*67A=) c.1295A= (p.Asn432=) c.1016A= (p.Asn339=) c.281A= (p.Asn94=) n.473A= c.122A= (p.Asn41=) n.348A= | |
| 16 | g.21710036A>C | CA395062623 | OTOA | c.1253A>C (p.Asn418Thr) c.*67A>C (n.*67A>C) c.1295A>C (p.Asn432Thr) c.1016A>C (p.Asn339Thr) c.281A>C (p.Asn94Thr) n.473A>C c.122A>C (p.Asn41Thr) n.348A>C | |
| 16 | g.21710036A>G | CA395062622 | OTOA | c.1253A>G (p.Asn418Ser) c.*67A>G (n.*67A>G) c.1295A>G (p.Asn432Ser) c.1016A>G (p.Asn339Ser) c.281A>G (p.Asn94Ser) n.473A>G c.122A>G (p.Asn41Ser) n.348A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.21710036A>T | CA395062621 | OTOA | c.1253A>T (p.Asn418Ile) c.*67A>T (n.*67A>T) c.1295A>T (p.Asn432Ile) c.1016A>T (p.Asn339Ile) c.281A>T (p.Asn94Ile) n.473A>T c.122A>T (p.Asn41Ile) n.348A>T | |
| 16 | g.21710037C>A | CA395062624 | OTOA | c.1254C>A (p.Asn418Lys) c.*68C>A (n.*68C>A) c.1296C>A (p.Asn432Lys) c.1017C>A (p.Asn339Lys) c.282C>A (p.Asn94Lys) n.474C>A c.123C>A (p.Asn41Lys) n.349C>A | |
| 16 | g.21710037C>G | CA395062625 | OTOA | c.1254C>G (p.Asn418Lys) c.*68C>G (n.*68C>G) c.1296C>G (p.Asn432Lys) c.1017C>G (p.Asn339Lys) c.282C>G (p.Asn94Lys) n.474C>G c.123C>G (p.Asn41Lys) n.349C>G | |
| 16 | g.21710037C>T | CA494117591 | OTOA | c.1254C>T (p.Asn418=) c.*68C>T (n.*68C>T) c.1296C>T (p.Asn432=) c.1017C>T (p.Asn339=) c.282C>T (p.Asn94=) n.474C>T c.123C>T (p.Asn41=) n.349C>T | |
| 16 | g.21710038C>A | CA395062626 | OTOA | c.1255C>A (p.Gln419Lys) c.*69C>A (n.*69C>A) c.1297C>A (p.Gln433Lys) c.1018C>A (p.Gln340Lys) c.283C>A (p.Gln95Lys) n.475C>A c.124C>A (p.Gln42Lys) n.350C>A | |
| 16 | g.21710038C= | CA2212563571 | OTOA | c.1255C= (p.Gln419=) c.*69C= (n.*69C=) c.1297C= (p.Gln433=) c.1018C= (p.Gln340=) c.283C= (p.Gln95=) n.475C= c.124C= (p.Gln42=) n.350C= | |
| 16 | g.21710038C>G | CA395062627 | OTOA | c.1255C>G (p.Gln419Glu) c.*69C>G (n.*69C>G) c.1297C>G (p.Gln433Glu) c.1018C>G (p.Gln340Glu) c.283C>G (p.Gln95Glu) n.475C>G c.124C>G (p.Gln42Glu) n.350C>G | |
| 16 | g.21710038C>T | CA7952576 | OTOA | c.1255C>T (p.Gln419Ter) c.*69C>T (n.*69C>T) c.1297C>T (p.Gln433Ter) c.1018C>T (p.Gln340Ter) c.283C>T (p.Gln95Ter) n.475C>T c.124C>T (p.Gln42Ter) n.350C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.21710039A= | CA2212563573 | OTOA | c.1256A= (p.Gln419=) c.*70A= (n.*70A=) c.1298A= (p.Gln433=) c.1019A= (p.Gln340=) c.284A= (p.Gln95=) n.476A= c.125A= (p.Gln42=) n.351A= | |
| 16 | g.21710039A>C | CA395062628 | OTOA | c.1256A>C (p.Gln419Pro) c.*70A>C (n.*70A>C) c.1298A>C (p.Gln433Pro) c.1019A>C (p.Gln340Pro) c.284A>C (p.Gln95Pro) n.476A>C c.125A>C (p.Gln42Pro) n.351A>C | |
| 16 | g.21710039A>G | CA395062629 | OTOA | c.1256A>G (p.Gln419Arg) c.*70A>G (n.*70A>G) c.1298A>G (p.Gln433Arg) c.1019A>G (p.Gln340Arg) c.284A>G (p.Gln95Arg) n.476A>G c.125A>G (p.Gln42Arg) n.351A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710039A>T | CA395062630 | OTOA | c.1256A>T (p.Gln419Leu) c.*70A>T (n.*70A>T) c.1298A>T (p.Gln433Leu) c.1019A>T (p.Gln340Leu) c.284A>T (p.Gln95Leu) n.476A>T c.125A>T (p.Gln42Leu) n.351A>T | |
| 16 | g.21710040G>A | CA494117593 | OTOA | c.1257G>A (p.Gln419=) c.*71G>A (n.*71G>A) c.1299G>A (p.Gln433=) c.1020G>A (p.Gln340=) c.285G>A (p.Gln95=) n.477G>A c.126G>A (p.Gln42=) n.352G>A | |
| 16 | g.21710040G>C | CA395062631 | OTOA | c.1257G>C (p.Gln419His) c.*71G>C (n.*71G>C) c.1299G>C (p.Gln433His) c.1020G>C (p.Gln340His) c.285G>C (p.Gln95His) n.477G>C c.126G>C (p.Gln42His) n.352G>C | |
| 16 | g.21710040G>T | CA395062632 | OTOA | c.1257G>T (p.Gln419His) c.*71G>T (n.*71G>T) c.1299G>T (p.Gln433His) c.1020G>T (p.Gln340His) c.285G>T (p.Gln95His) n.477G>T c.126G>T (p.Gln42His) n.352G>T | |
| 16 | g.21710041G>A | CA395062633 | OTOA | c.1258G>A (p.Val420Ile) c.*72G>A (n.*72G>A) c.1300G>A (p.Val434Ile) c.1021G>A (p.Val341Ile) c.286G>A (p.Val96Ile) n.478G>A c.127G>A (p.Val43Ile) n.353G>A | |
| 16 | g.21710041G>C | CA395062634 | OTOA | c.1258G>C (p.Val420Leu) c.*72G>C (n.*72G>C) c.1300G>C (p.Val434Leu) c.1021G>C (p.Val341Leu) c.286G>C (p.Val96Leu) n.478G>C c.127G>C (p.Val43Leu) n.353G>C | |
| 16 | g.21710041G>T | CA395062635 | OTOA | c.1258G>T (p.Val420Phe) c.*72G>T (n.*72G>T) c.1300G>T (p.Val434Phe) c.1021G>T (p.Val341Phe) c.286G>T (p.Val96Phe) n.478G>T c.127G>T (p.Val43Phe) n.353G>T | |
| 16 | g.21710042T>A | CA395062637 | OTOA | c.1259T>A (p.Val420Asp) c.*73T>A (n.*73T>A) c.1301T>A (p.Val434Asp) c.1022T>A (p.Val341Asp) c.287T>A (p.Val96Asp) n.479T>A c.128T>A (p.Val43Asp) n.354T>A | |
| 16 | g.21710042T>C | CA7952577 | OTOA | c.1259T>C (p.Val420Ala) c.*73T>C (n.*73T>C) c.1301T>C (p.Val434Ala) c.1022T>C (p.Val341Ala) c.287T>C (p.Val96Ala) n.479T>C c.128T>C (p.Val43Ala) n.354T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710042T>G | CA395062636 | OTOA | c.1259T>G (p.Val420Gly) c.*73T>G (n.*73T>G) c.1301T>G (p.Val434Gly) c.1022T>G (p.Val341Gly) c.287T>G (p.Val96Gly) n.479T>G c.128T>G (p.Val43Gly) n.354T>G | |
| 16 | g.21710042T= | CA2212563577 | OTOA | c.1259T= (p.Val420=) c.*73T= (n.*73T=) c.1301T= (p.Val434=) c.1022T= (p.Val341=) c.287T= (p.Val96=) n.479T= c.128T= (p.Val43=) n.354T= | |
| 16 | g.21710043C>A | CA494117596 | OTOA | c.1260C>A (p.Val420=) c.*74C>A (n.*74C>A) c.1302C>A (p.Val434=) c.1023C>A (p.Val341=) c.288C>A (p.Val96=) n.480C>A c.129C>A (p.Val43=) n.355C>A | |
| 16 | g.21710043C>G | CA494117598 | OTOA | c.1260C>G (p.Val420=) c.*74C>G (n.*74C>G) c.1302C>G (p.Val434=) c.1023C>G (p.Val341=) c.288C>G (p.Val96=) n.480C>G c.129C>G (p.Val43=) n.355C>G | |
| 16 | g.21710043C>T | CA494117599 | OTOA | c.1260C>T (p.Val420=) c.*74C>T (n.*74C>T) c.1302C>T (p.Val434=) c.1023C>T (p.Val341=) c.288C>T (p.Val96=) n.480C>T c.129C>T (p.Val43=) n.355C>T | |
| 16 | g.21710044T>A | CA395062638 | OTOA | c.1261T>A (p.Ser421Thr) c.*75T>A (n.*75T>A) c.1303T>A (p.Ser435Thr) c.1024T>A (p.Ser342Thr) c.289T>A (p.Ser97Thr) n.481T>A c.130T>A (p.Ser44Thr) n.356T>A | |
| 16 | g.21710044T>C | CA395062639 | OTOA | c.1261T>C (p.Ser421Pro) c.*75T>C (n.*75T>C) c.1303T>C (p.Ser435Pro) c.1024T>C (p.Ser342Pro) c.289T>C (p.Ser97Pro) n.481T>C c.130T>C (p.Ser44Pro) n.356T>C | |
| 16 | g.21710044T>G | CA395062640 | OTOA | c.1261T>G (p.Ser421Ala) c.*75T>G (n.*75T>G) c.1303T>G (p.Ser435Ala) c.1024T>G (p.Ser342Ala) c.289T>G (p.Ser97Ala) n.481T>G c.130T>G (p.Ser44Ala) n.356T>G | |
| 16 | g.21710045C>A | CA395062641 | OTOA | c.1262C>A (p.Ser421Ter) c.*76C>A (n.*76C>A) c.1304C>A (p.Ser435Ter) c.1025C>A (p.Ser342Ter) c.290C>A (p.Ser97Ter) n.482C>A c.131C>A (p.Ser44Ter) n.357C>A | |
| 16 | g.21710045C>G | CA395062642 | OTOA | c.1262C>G (p.Ser421Ter) c.*76C>G (n.*76C>G) c.1304C>G (p.Ser435Ter) c.1025C>G (p.Ser342Ter) c.290C>G (p.Ser97Ter) n.482C>G c.131C>G (p.Ser44Ter) n.357C>G | |
| 16 | g.21710045C>T | CA395062643 | OTOA | c.1262C>T (p.Ser421Leu) c.*76C>T (n.*76C>T) c.1304C>T (p.Ser435Leu) c.1025C>T (p.Ser342Leu) c.290C>T (p.Ser97Leu) n.482C>T c.131C>T (p.Ser44Leu) n.357C>T | |
| 16 | g.21710046_21710054del | CA2632220219 | OTOA | c.1263_1271del (p.Gly422_Ala424del) c.*77_*85del (n.*77_*85del) c.1305_1313del (p.Gly436_Ala438del) c.1026_1034del (p.Gly343_Ala345del) c.291_299del (p.Gly98_Ala100del) n.483_491del c.132_140del (p.Gly45_Ala47del) n.358_366del | gnomAD v4 |
| 16 | g.21710046A>C | CA494117605 | OTOA | c.1263A>C (p.Ser421=) c.*77A>C (n.*77A>C) c.1305A>C (p.Ser435=) c.1026A>C (p.Ser342=) c.291A>C (p.Ser97=) n.483A>C c.132A>C (p.Ser44=) n.358A>C | gnomAD v4 |
| 16 | g.21710046A>G | CA494117604 | OTOA | c.1263A>G (p.Ser421=) c.*77A>G (n.*77A>G) c.1305A>G (p.Ser435=) c.1026A>G (p.Ser342=) c.291A>G (p.Ser97=) n.483A>G c.132A>G (p.Ser44=) n.358A>G | gnomAD v4 |
| 16 | g.21710046A>T | CA494117603 | OTOA | c.1263A>T (p.Ser421=) c.*77A>T (n.*77A>T) c.1305A>T (p.Ser435=) c.1026A>T (p.Ser342=) c.291A>T (p.Ser97=) n.483A>T c.132A>T (p.Ser44=) n.358A>T | |
| 16 | g.21710047G>A | CA395062644 | OTOA | c.1264G>A (p.Gly422Ser) c.*78G>A (n.*78G>A) c.1306G>A (p.Gly436Ser) c.1027G>A (p.Gly343Ser) c.292G>A (p.Gly98Ser) n.484G>A c.133G>A (p.Gly45Ser) n.359G>A | |
| 16 | g.21710047G>C | CA395062645 | OTOA | c.1264G>C (p.Gly422Arg) c.*78G>C (n.*78G>C) c.1306G>C (p.Gly436Arg) c.1027G>C (p.Gly343Arg) c.292G>C (p.Gly98Arg) n.484G>C c.133G>C (p.Gly45Arg) n.359G>C | |
| 16 | g.21710047G>T | CA395062646 | OTOA | c.1264G>T (p.Gly422Cys) c.*78G>T (n.*78G>T) c.1306G>T (p.Gly436Cys) c.1027G>T (p.Gly343Cys) c.292G>T (p.Gly98Cys) n.484G>T c.133G>T (p.Gly45Cys) n.359G>T | |
| 16 | g.21710048G>A | CA395062647 | OTOA | c.1265G>A (p.Gly422Asp) c.*79G>A (n.*79G>A) c.1307G>A (p.Gly436Asp) c.1028G>A (p.Gly343Asp) c.293G>A (p.Gly98Asp) n.485G>A c.134G>A (p.Gly45Asp) n.360G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710048G>C | CA395062648 | OTOA | c.1265G>C (p.Gly422Ala) c.*79G>C (n.*79G>C) c.1307G>C (p.Gly436Ala) c.1028G>C (p.Gly343Ala) c.293G>C (p.Gly98Ala) n.485G>C c.134G>C (p.Gly45Ala) n.360G>C | |
| 16 | g.21710048G= | CA2212563583 | OTOA | c.1265G= (p.Gly422=) c.*79G= (n.*79G=) c.1307G= (p.Gly436=) c.1028G= (p.Gly343=) c.293G= (p.Gly98=) n.485G= c.134G= (p.Gly45=) n.360G= | |
| 16 | g.21710048G>T | CA7952578 | OTOA | c.1265G>T (p.Gly422Val) c.*79G>T (n.*79G>T) c.1307G>T (p.Gly436Val) c.1028G>T (p.Gly343Val) c.293G>T (p.Gly98Val) n.485G>T c.134G>T (p.Gly45Val) n.360G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710049T>A | CA494117607 | OTOA | c.1266T>A (p.Gly422=) c.*80T>A (n.*80T>A) c.1308T>A (p.Gly436=) c.1029T>A (p.Gly343=) c.294T>A (p.Gly98=) n.486T>A c.135T>A (p.Gly45=) n.361T>A | |
| 16 | g.21710049T>C | CA494117608 | OTOA | c.1266T>C (p.Gly422=) c.*80T>C (n.*80T>C) c.1308T>C (p.Gly436=) c.1029T>C (p.Gly343=) c.294T>C (p.Gly98=) n.486T>C c.135T>C (p.Gly45=) n.361T>C | |
| 16 | g.21710049T>G | CA494117609 | OTOA | c.1266T>G (p.Gly422=) c.*80T>G (n.*80T>G) c.1308T>G (p.Gly436=) c.1029T>G (p.Gly343=) c.294T>G (p.Gly98=) n.486T>G c.135T>G (p.Gly45=) n.361T>G | dbSNP |
| 16 | g.21710049T= | CA2212563586 | OTOA | c.1266T= (p.Gly422=) c.*80T= (n.*80T=) c.1308T= (p.Gly436=) c.1029T= (p.Gly343=) c.294T= (p.Gly98=) n.486T= c.135T= (p.Gly45=) n.361T= | |
| 16 | g.21710050T>A | CA395062650 | OTOA | c.1267T>A (p.Trp423Arg) c.*81T>A (n.*81T>A) c.1309T>A (p.Trp437Arg) c.1030T>A (p.Trp344Arg) c.295T>A (p.Trp99Arg) n.487T>A c.136T>A (p.Trp46Arg) n.362T>A | |
| 16 | g.21710050T>C | CA395062651 | OTOA | c.1267T>C (p.Trp423Arg) c.*81T>C (n.*81T>C) c.1309T>C (p.Trp437Arg) c.1030T>C (p.Trp344Arg) c.295T>C (p.Trp99Arg) n.487T>C c.136T>C (p.Trp46Arg) n.362T>C | |
| 16 | g.21710050T>G | CA395062649 | OTOA | c.1267T>G (p.Trp423Gly) c.*81T>G (n.*81T>G) c.1309T>G (p.Trp437Gly) c.1030T>G (p.Trp344Gly) c.295T>G (p.Trp99Gly) n.487T>G c.136T>G (p.Trp46Gly) n.362T>G | |
| 16 | g.21710051G>A | CA395062653 | OTOA | c.1268G>A (p.Trp423Ter) c.*82G>A (n.*82G>A) c.1310G>A (p.Trp437Ter) c.1031G>A (p.Trp344Ter) c.296G>A (p.Trp99Ter) n.488G>A c.137G>A (p.Trp46Ter) n.363G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21710051G>C | CA395062652 | OTOA | c.1268G>C (p.Trp423Ser) c.*82G>C (n.*82G>C) c.1310G>C (p.Trp437Ser) c.1031G>C (p.Trp344Ser) c.296G>C (p.Trp99Ser) n.488G>C c.137G>C (p.Trp46Ser) n.363G>C | gnomAD v4 |
| 16 | g.21710051G= | CA2212563589 | OTOA | c.1268G= (p.Trp423=) c.*82G= (n.*82G=) c.1310G= (p.Trp437=) c.1031G= (p.Trp344=) c.296G= (p.Trp99=) n.488G= c.137G= (p.Trp46=) n.363G= | |
| 16 | g.21710051G>T | CA395062654 | OTOA | c.1268G>T (p.Trp423Leu) c.*82G>T (n.*82G>T) c.1310G>T (p.Trp437Leu) c.1031G>T (p.Trp344Leu) c.296G>T (p.Trp99Leu) n.488G>T c.137G>T (p.Trp46Leu) n.363G>T | |
| 16 | g.21710052G>A | CA395062655 | OTOA | c.1269G>A (p.Trp423Ter) c.*83G>A (n.*83G>A) c.1311G>A (p.Trp437Ter) c.1032G>A (p.Trp344Ter) c.297G>A (p.Trp99Ter) n.489G>A c.138G>A (p.Trp46Ter) n.364G>A | ClinVar dbSNP gnomAD v2 |
| 16 | g.21710052G>C | CA395062657 | OTOA | c.1269G>C (p.Trp423Cys) c.*83G>C (n.*83G>C) c.1311G>C (p.Trp437Cys) c.1032G>C (p.Trp344Cys) c.297G>C (p.Trp99Cys) n.489G>C c.138G>C (p.Trp46Cys) n.364G>C | |
| 16 | g.21710052G= | CA2212563590 | OTOA | c.1269G= (p.Trp423=) c.*83G= (n.*83G=) c.1311G= (p.Trp437=) c.1032G= (p.Trp344=) c.297G= (p.Trp99=) n.489G= c.138G= (p.Trp46=) n.364G= | |
| 16 | g.21710052G>T | CA395062656 | OTOA | c.1269G>T (p.Trp423Cys) c.*83G>T (n.*83G>T) c.1311G>T (p.Trp437Cys) c.1032G>T (p.Trp344Cys) c.297G>T (p.Trp99Cys) n.489G>T c.138G>T (p.Trp46Cys) n.364G>T | |
| 16 | g.21710053G>A | CA395062658 | OTOA | c.1270G>A (p.Ala424Thr) c.*84G>A (n.*84G>A) c.1312G>A (p.Ala438Thr) c.1033G>A (p.Ala345Thr) c.298G>A (p.Ala100Thr) n.490G>A c.139G>A (p.Ala47Thr) n.365G>A | |
| 16 | g.21710053G>C | CA395062659 | OTOA | c.1270G>C (p.Ala424Pro) c.*84G>C (n.*84G>C) c.1312G>C (p.Ala438Pro) c.1033G>C (p.Ala345Pro) c.298G>C (p.Ala100Pro) n.490G>C c.139G>C (p.Ala47Pro) n.365G>C | |
| 16 | g.21710053G= | CA2212563591 | OTOA | c.1270G= (p.Ala424=) c.*84G= (n.*84G=) c.1312G= (p.Ala438=) c.1033G= (p.Ala345=) c.298G= (p.Ala100=) n.490G= c.139G= (p.Ala47=) n.365G= | |
| 16 | g.21710053G>T | CA395062660 | OTOA | c.1270G>T (p.Ala424Ser) c.*84G>T (n.*84G>T) c.1312G>T (p.Ala438Ser) c.1033G>T (p.Ala345Ser) c.298G>T (p.Ala100Ser) n.490G>T c.139G>T (p.Ala47Ser) n.365G>T | dbSNP |
| 16 | g.21710054C>A | CA395062661 | OTOA | c.1271C>A (p.Ala424Asp) c.*85C>A (n.*85C>A) c.1313C>A (p.Ala438Asp) c.1034C>A (p.Ala345Asp) c.299C>A (p.Ala100Asp) n.491C>A c.140C>A (p.Ala47Asp) n.366C>A | |
| 16 | g.21710054C>G | CA395062662 | OTOA | c.1271C>G (p.Ala424Gly) c.*85C>G (n.*85C>G) c.1313C>G (p.Ala438Gly) c.1034C>G (p.Ala345Gly) c.299C>G (p.Ala100Gly) n.491C>G c.140C>G (p.Ala47Gly) n.366C>G | |
| 16 | g.21710054C>T | CA395062663 | OTOA | c.1271C>T (p.Ala424Val) c.*85C>T (n.*85C>T) c.1313C>T (p.Ala438Val) c.1034C>T (p.Ala345Val) c.299C>T (p.Ala100Val) n.491C>T c.140C>T (p.Ala47Val) n.366C>T | |
| 16 | g.21710055C>A | CA494117610 | OTOA | c.1272C>A (p.Ala424=) c.*86C>A (n.*86C>A) c.1314C>A (p.Ala438=) c.1035C>A (p.Ala345=) c.300C>A (p.Ala100=) n.492C>A c.141C>A (p.Ala47=) n.367C>A | |
| 16 | g.21710055C>G | CA494117611 | OTOA | c.1272C>G (p.Ala424=) c.*86C>G (n.*86C>G) c.1314C>G (p.Ala438=) c.1035C>G (p.Ala345=) c.300C>G (p.Ala100=) n.492C>G c.141C>G (p.Ala47=) n.367C>G | |
| 16 | g.21710055C>T | CA494117612 | OTOA | c.1272C>T (p.Ala424=) c.*86C>T (n.*86C>T) c.1314C>T (p.Ala438=) c.1035C>T (p.Ala345=) c.300C>T (p.Ala100=) n.492C>T c.141C>T (p.Ala47=) n.367C>T | dbSNP |
| 16 | g.21710056A>C | CA395062666 | OTOA | c.1273A>C (p.Lys425Gln) c.*87A>C (n.*87A>C) c.1315A>C (p.Lys439Gln) c.1036A>C (p.Lys346Gln) c.301A>C (p.Lys101Gln) n.493A>C c.142A>C (p.Lys48Gln) n.368A>C | |
| 16 | g.21710056A>G | CA395062664 | OTOA | c.1273A>G (p.Lys425Glu) c.*87A>G (n.*87A>G) c.1315A>G (p.Lys439Glu) c.1036A>G (p.Lys346Glu) c.301A>G (p.Lys101Glu) n.493A>G c.142A>G (p.Lys48Glu) n.368A>G | |
| 16 | g.21710056A>T | CA395062665 | OTOA | c.1273A>T (p.Lys425Ter) c.*87A>T (n.*87A>T) c.1315A>T (p.Lys439Ter) c.1036A>T (p.Lys346Ter) c.301A>T (p.Lys101Ter) n.493A>T c.142A>T (p.Lys48Ter) n.368A>T | |
| 16 | g.21710057A= | CA2212563593 | OTOA | c.1274A= (p.Lys425=) c.*88A= (n.*88A=) c.1316A= (p.Lys439=) c.1037A= (p.Lys346=) c.302A= (p.Lys101=) n.494A= c.143A= (p.Lys48=) n.369A= | |
| 16 | g.21710057A>C | CA395062667 | OTOA | c.1274A>C (p.Lys425Thr) c.*88A>C (n.*88A>C) c.1316A>C (p.Lys439Thr) c.1037A>C (p.Lys346Thr) c.302A>C (p.Lys101Thr) n.494A>C c.143A>C (p.Lys48Thr) n.369A>C | |
| 16 | g.21710057A>G | CA395062668 | OTOA | c.1274A>G (p.Lys425Arg) c.*88A>G (n.*88A>G) c.1316A>G (p.Lys439Arg) c.1037A>G (p.Lys346Arg) c.302A>G (p.Lys101Arg) n.494A>G c.143A>G (p.Lys48Arg) n.369A>G | |
| 16 | g.21710057A>T | CA7952579 | OTOA | c.1274A>T (p.Lys425Met) c.*88A>T (n.*88A>T) c.1316A>T (p.Lys439Met) c.1037A>T (p.Lys346Met) c.302A>T (p.Lys101Met) n.494A>T c.143A>T (p.Lys48Met) n.369A>T | dbSNP ExAC gnomAD v4 |
| 16 | g.21710058G>A | CA494117613 | OTOA | c.1275G>A (p.Lys425=) c.*89G>A (n.*89G>A) c.1317G>A (p.Lys439=) c.1038G>A (p.Lys346=) c.303G>A (p.Lys101=) n.495G>A c.144G>A (p.Lys48=) n.370G>A | gnomAD v4 |
| 16 | g.21710058G>C | CA395062669 | OTOA | c.1275G>C (p.Lys425Asn) c.*89G>C (n.*89G>C) c.1317G>C (p.Lys439Asn) c.1038G>C (p.Lys346Asn) c.303G>C (p.Lys101Asn) n.495G>C c.144G>C (p.Lys48Asn) n.370G>C | |
| 16 | g.21710058G>T | CA395062670 | OTOA | c.1275G>T (p.Lys425Asn) c.*89G>T (n.*89G>T) c.1317G>T (p.Lys439Asn) c.1038G>T (p.Lys346Asn) c.303G>T (p.Lys101Asn) n.495G>T c.144G>T (p.Lys48Asn) n.370G>T | |
| 16 | g.21710059A>C | CA395062671 | OTOA | c.1276A>C (p.Ser426Arg) c.*90A>C (n.*90A>C) c.1318A>C (p.Ser440Arg) c.1039A>C (p.Ser347Arg) c.304A>C (p.Ser102Arg) n.496A>C c.145A>C (p.Ser49Arg) n.371A>C | |
| 16 | g.21710059A>G | CA395062673 | OTOA | c.1276A>G (p.Ser426Gly) c.*90A>G (n.*90A>G) c.1318A>G (p.Ser440Gly) c.1039A>G (p.Ser347Gly) c.304A>G (p.Ser102Gly) n.496A>G c.145A>G (p.Ser49Gly) n.371A>G | |
| 16 | g.21710059A>T | CA395062672 | OTOA | c.1276A>T (p.Ser426Cys) c.*90A>T (n.*90A>T) c.1318A>T (p.Ser440Cys) c.1039A>T (p.Ser347Cys) c.304A>T (p.Ser102Cys) n.496A>T c.145A>T (p.Ser49Cys) n.371A>T | |
| 16 | g.21710060G>A | CA395062674 | OTOA | c.1277G>A (p.Ser426Asn) c.*91G>A (n.*91G>A) c.1319G>A (p.Ser440Asn) c.1040G>A (p.Ser347Asn) c.305G>A (p.Ser102Asn) n.497G>A c.146G>A (p.Ser49Asn) n.372G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710060G>C | CA395062675 | OTOA | c.1277G>C (p.Ser426Thr) c.*91G>C (n.*91G>C) c.1319G>C (p.Ser440Thr) c.1040G>C (p.Ser347Thr) c.305G>C (p.Ser102Thr) n.497G>C c.146G>C (p.Ser49Thr) n.372G>C | |
| 16 | g.21710060G= | CA2212563600 | OTOA | c.1277G= (p.Ser426=) c.*91G= (n.*91G=) c.1319G= (p.Ser440=) c.1040G= (p.Ser347=) c.305G= (p.Ser102=) n.497G= c.146G= (p.Ser49=) n.372G= | |
| 16 | g.21710060G>T | CA395062676 | OTOA | c.1277G>T (p.Ser426Ile) c.*91G>T (n.*91G>T) c.1319G>T (p.Ser440Ile) c.1040G>T (p.Ser347Ile) c.305G>T (p.Ser102Ile) n.497G>T c.146G>T (p.Ser49Ile) n.372G>T | |
| 16 | g.21710061C>A | CA395062677 | OTOA | c.1278C>A (p.Ser426Arg) c.*92C>A (n.*92C>A) c.1320C>A (p.Ser440Arg) c.1041C>A (p.Ser347Arg) c.306C>A (p.Ser102Arg) n.498C>A c.147C>A (p.Ser49Arg) n.373C>A | |
| 16 | g.21710061C= | CA2212563601 | OTOA | c.1278C= (p.Ser426=) c.*92C= (n.*92C=) c.1320C= (p.Ser440=) c.1041C= (p.Ser347=) c.306C= (p.Ser102=) n.498C= c.147C= (p.Ser49=) n.373C= | |
| 16 | g.21710061C>G | CA395062678 | OTOA | c.1278C>G (p.Ser426Arg) c.*92C>G (n.*92C>G) c.1320C>G (p.Ser440Arg) c.1041C>G (p.Ser347Arg) c.306C>G (p.Ser102Arg) n.498C>G c.147C>G (p.Ser49Arg) n.373C>G | |
| 16 | g.21710061C>T | CA494117614 | OTOA | c.1278C>T (p.Ser426=) c.*92C>T (n.*92C>T) c.1320C>T (p.Ser440=) c.1041C>T (p.Ser347=) c.306C>T (p.Ser102=) n.498C>T c.147C>T (p.Ser49=) n.373C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710062C>A | CA395062679 | OTOA | c.1279C>A (p.Gln427Lys) c.*93C>A (n.*93C>A) c.1321C>A (p.Gln441Lys) c.1042C>A (p.Gln348Lys) c.307C>A (p.Gln103Lys) n.499C>A c.148C>A (p.Gln50Lys) n.374C>A | |
| 16 | g.21710062C>G | CA395062680 | OTOA | c.1279C>G (p.Gln427Glu) c.*93C>G (n.*93C>G) c.1321C>G (p.Gln441Glu) c.1042C>G (p.Gln348Glu) c.307C>G (p.Gln103Glu) n.499C>G c.148C>G (p.Gln50Glu) n.374C>G | |
| 16 | g.21710062C>T | CA395062681 | OTOA | c.1279C>T (p.Gln427Ter) c.*93C>T (n.*93C>T) c.1321C>T (p.Gln441Ter) c.1042C>T (p.Gln348Ter) c.307C>T (p.Gln103Ter) n.499C>T c.148C>T (p.Gln50Ter) n.374C>T | |
| 16 | g.21710063A>C | CA395062682 | OTOA | c.1280A>C (p.Gln427Pro) c.*94A>C (n.*94A>C) c.1322A>C (p.Gln441Pro) c.1043A>C (p.Gln348Pro) c.308A>C (p.Gln103Pro) n.500A>C c.149A>C (p.Gln50Pro) n.375A>C | |
| 16 | g.21710063A>G | CA395062683 | OTOA | c.1280A>G (p.Gln427Arg) c.*94A>G (n.*94A>G) c.1322A>G (p.Gln441Arg) c.1043A>G (p.Gln348Arg) c.308A>G (p.Gln103Arg) n.500A>G c.149A>G (p.Gln50Arg) n.375A>G | |
| 16 | g.21710063A>T | CA395062684 | OTOA | c.1280A>T (p.Gln427Leu) c.*94A>T (n.*94A>T) c.1322A>T (p.Gln441Leu) c.1043A>T (p.Gln348Leu) c.308A>T (p.Gln103Leu) n.500A>T c.149A>T (p.Gln50Leu) n.375A>T | |
| 16 | g.21710064G>A | CA494117615 | OTOA | c.1281G>A (p.Gln427=) c.*95G>A (n.*95G>A) c.1323G>A (p.Gln441=) c.1044G>A (p.Gln348=) c.309G>A (p.Gln103=) n.501G>A c.150G>A (p.Gln50=) n.376G>A | |
| 16 | g.21710064G>C | CA395062685 | OTOA | c.1281G>C (p.Gln427His) c.*95G>C (n.*95G>C) c.1323G>C (p.Gln441His) c.1044G>C (p.Gln348His) c.309G>C (p.Gln103His) n.501G>C c.150G>C (p.Gln50His) n.376G>C | |
| 16 | g.21710064G>T | CA395062686 | OTOA | c.1281G>T (p.Gln427His) c.*95G>T (n.*95G>T) c.1323G>T (p.Gln441His) c.1044G>T (p.Gln348His) c.309G>T (p.Gln103His) n.501G>T c.150G>T (p.Gln50His) n.376G>T | |
| 16 | g.21710065G>A | CA395062687 | OTOA | c.1282G>A (p.Val428Ile) c.*96G>A (n.*96G>A) c.1324G>A (p.Val442Ile) c.1045G>A (p.Val349Ile) c.310G>A (p.Val104Ile) n.502G>A c.151G>A (p.Val51Ile) n.377G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.21710065G>C | CA395062688 | OTOA | c.1282G>C (p.Val428Leu) c.*96G>C (n.*96G>C) c.1324G>C (p.Val442Leu) c.1045G>C (p.Val349Leu) c.310G>C (p.Val104Leu) n.502G>C c.151G>C (p.Val51Leu) n.377G>C | |
| 16 | g.21710065G= | CA2212563604 | OTOA | c.1282G= (p.Val428=) c.*96G= (n.*96G=) c.1324G= (p.Val442=) c.1045G= (p.Val349=) c.310G= (p.Val104=) n.502G= c.151G= (p.Val51=) n.377G= | |
| 16 | g.21710065G>T | CA395062689 | OTOA | c.1282G>T (p.Val428Phe) c.*96G>T (n.*96G>T) c.1324G>T (p.Val442Phe) c.1045G>T (p.Val349Phe) c.310G>T (p.Val104Phe) n.502G>T c.151G>T (p.Val51Phe) n.377G>T | |
| 16 | g.21710066T>A | CA395062690 | OTOA | c.1283T>A (p.Val428Asp) c.*97T>A (n.*97T>A) c.1325T>A (p.Val442Asp) c.1046T>A (p.Val349Asp) c.311T>A (p.Val104Asp) n.503T>A c.152T>A (p.Val51Asp) n.378T>A | |
| 16 | g.21710066T>C | CA395062691 | OTOA | c.1283T>C (p.Val428Ala) c.*97T>C (n.*97T>C) c.1325T>C (p.Val442Ala) c.1046T>C (p.Val349Ala) c.311T>C (p.Val104Ala) n.503T>C c.152T>C (p.Val51Ala) n.378T>C | |
| 16 | g.21710066T>G | CA395062692 | OTOA | c.1283T>G (p.Val428Gly) c.*97T>G (n.*97T>G) c.1325T>G (p.Val442Gly) c.1046T>G (p.Val349Gly) c.311T>G (p.Val104Gly) n.503T>G c.152T>G (p.Val51Gly) n.378T>G | |
| 16 | g.21710067C>A | CA494117617 | OTOA | c.1284C>A (p.Val428=) c.*98C>A (n.*98C>A) c.1326C>A (p.Val442=) c.1047C>A (p.Val349=) c.312C>A (p.Val104=) n.504C>A c.153C>A (p.Val51=) n.379C>A | gnomAD v4 |
| 16 | g.21710067C= | CA2212563607 | OTOA | c.1284C= (p.Val428=) c.*98C= (n.*98C=) c.1326C= (p.Val442=) c.1047C= (p.Val349=) c.312C= (p.Val104=) n.504C= c.153C= (p.Val51=) n.379C= | |
| 16 | g.21710067C>G | CA494117616 | OTOA | c.1284C>G (p.Val428=) c.*98C>G (n.*98C>G) c.1326C>G (p.Val442=) c.1047C>G (p.Val349=) c.312C>G (p.Val104=) n.504C>G c.153C>G (p.Val51=) n.379C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710067C>T | CA279403744 | OTOA | c.1284C>T (p.Val428=) c.*98C>T (n.*98C>T) c.1326C>T (p.Val442=) c.1047C>T (p.Val349=) c.312C>T (p.Val104=) n.504C>T c.153C>T (p.Val51=) n.379C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21710068A>C | CA395062693 | OTOA | c.1285A>C (p.Ile429Leu) c.*99A>C (n.*99A>C) c.1327A>C (p.Ile443Leu) c.1048A>C (p.Ile350Leu) c.313A>C (p.Ile105Leu) n.505A>C c.154A>C (p.Ile52Leu) n.380A>C | |
| 16 | g.21710068A>G | CA395062695 | OTOA | c.1285A>G (p.Ile429Val) c.*99A>G (n.*99A>G) c.1327A>G (p.Ile443Val) c.1048A>G (p.Ile350Val) c.313A>G (p.Ile105Val) n.505A>G c.154A>G (p.Ile52Val) n.380A>G | |
| 16 | g.21710068A>T | CA395062694 | OTOA | c.1285A>T (p.Ile429Phe) c.*99A>T (n.*99A>T) c.1327A>T (p.Ile443Phe) c.1048A>T (p.Ile350Phe) c.313A>T (p.Ile105Phe) n.505A>T c.154A>T (p.Ile52Phe) n.380A>T | |
| 16 | g.21710069T>A | CA395062696 | OTOA | c.1286T>A (p.Ile429Asn) c.*100T>A (n.*100T>A) c.1328T>A (p.Ile443Asn) c.1049T>A (p.Ile350Asn) c.314T>A (p.Ile105Asn) n.506T>A c.155T>A (p.Ile52Asn) n.381T>A | |
| 16 | g.21710069T>C | CA395062697 | OTOA | c.1286T>C (p.Ile429Thr) c.*100T>C (n.*100T>C) c.1328T>C (p.Ile443Thr) c.1049T>C (p.Ile350Thr) c.314T>C (p.Ile105Thr) n.506T>C c.155T>C (p.Ile52Thr) n.381T>C | |
| 16 | g.21710069T>G | CA395062698 | OTOA | c.1286T>G (p.Ile429Ser) c.*100T>G (n.*100T>G) c.1328T>G (p.Ile443Ser) c.1049T>G (p.Ile350Ser) c.314T>G (p.Ile105Ser) n.506T>G c.155T>G (p.Ile52Ser) n.381T>G | |
| 16 | g.21710070C>A | CA494117620 | OTOA | c.1287C>A (p.Ile429=) c.*101C>A (n.*101C>A) c.1329C>A (p.Ile443=) c.1050C>A (p.Ile350=) c.315C>A (p.Ile105=) n.507C>A c.156C>A (p.Ile52=) n.382C>A | COSMIC COSMIC COSMIC |
| 16 | g.21710070C>G | CA395062699 | OTOA | c.1287C>G (p.Ile429Met) c.*101C>G (n.*101C>G) c.1329C>G (p.Ile443Met) c.1050C>G (p.Ile350Met) c.315C>G (p.Ile105Met) n.507C>G c.156C>G (p.Ile52Met) n.382C>G | |
| 16 | g.21710070C>T | CA494117619 | OTOA | c.1287C>T (p.Ile429=) c.*101C>T (n.*101C>T) c.1329C>T (p.Ile443=) c.1050C>T (p.Ile350=) c.315C>T (p.Ile105=) n.507C>T c.156C>T (p.Ile52=) n.382C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.21710071A= | CA2212563610 | OTOA | c.1288A= (p.Ile430=) c.*102A= (n.*102A=) c.1330A= (p.Ile444=) c.1051A= (p.Ile351=) c.316A= (p.Ile106=) n.508A= c.157A= (p.Ile53=) n.383A= | |
| 16 | g.21710071A>C | CA395062700 | OTOA | c.1288A>C (p.Ile430Leu) c.*102A>C (n.*102A>C) c.1330A>C (p.Ile444Leu) c.1051A>C (p.Ile351Leu) c.316A>C (p.Ile106Leu) n.508A>C c.157A>C (p.Ile53Leu) n.383A>C | |
| 16 | g.21710071A>G | CA7952580 | OTOA | c.1288A>G (p.Ile430Val) c.*102A>G (n.*102A>G) c.1330A>G (p.Ile444Val) c.1051A>G (p.Ile351Val) c.316A>G (p.Ile106Val) n.508A>G c.157A>G (p.Ile53Val) n.383A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710071A>T | CA395062701 | OTOA | c.1288A>T (p.Ile430Phe) c.*102A>T (n.*102A>T) c.1330A>T (p.Ile444Phe) c.1051A>T (p.Ile351Phe) c.316A>T (p.Ile106Phe) n.508A>T c.157A>T (p.Ile53Phe) n.383A>T | |
| 16 | g.21710072T>A | CA395062702 | OTOA | c.1289T>A (p.Ile430Asn) c.*103T>A (n.*103T>A) c.1331T>A (p.Ile444Asn) c.1052T>A (p.Ile351Asn) c.317T>A (p.Ile106Asn) n.509T>A c.158T>A (p.Ile53Asn) n.384T>A | gnomAD v4 |
| 16 | g.21710072T>C | CA395062703 | OTOA | c.1289T>C (p.Ile430Thr) c.*103T>C (n.*103T>C) c.1331T>C (p.Ile444Thr) c.1052T>C (p.Ile351Thr) c.317T>C (p.Ile106Thr) n.509T>C c.158T>C (p.Ile53Thr) n.384T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710072T>G | CA395062704 | OTOA | c.1289T>G (p.Ile430Ser) c.*103T>G (n.*103T>G) c.1331T>G (p.Ile444Ser) c.1052T>G (p.Ile351Ser) c.317T>G (p.Ile106Ser) n.509T>G c.158T>G (p.Ile53Ser) n.384T>G | |
| 16 | g.21710072T= | CA2212563611 | OTOA | c.1289T= (p.Ile430=) c.*103T= (n.*103T=) c.1331T= (p.Ile444=) c.1052T= (p.Ile351=) c.317T= (p.Ile106=) n.509T= c.158T= (p.Ile53=) n.384T= | |
| 16 | g.21710073_21710075del | CA2825002413 | OTOA | c.1290_1292del (p.Ile430_Leu431delinsMet) c.*104_*106del (n.*104_*106del) c.1332_1334del (p.Ile444_Leu445delinsMet) c.1053_1055del (p.Ile351_Leu352delinsMet) c.318_320del (p.Ile106_Leu107delinsMet) n.510_512del c.159_161del (p.Ile53_Leu54delinsMet) n.385_387del | ClinVar |
| 16 | g.21710073C>A | CA494117621 | OTOA | c.1290C>A (p.Ile430=) c.*104C>A (n.*104C>A) c.1332C>A (p.Ile444=) c.1053C>A (p.Ile351=) c.318C>A (p.Ile106=) n.510C>A c.159C>A (p.Ile53=) n.385C>A | |
| 16 | g.21710073C>G | CA395062705 | OTOA | c.1290C>G (p.Ile430Met) c.*104C>G (n.*104C>G) c.1332C>G (p.Ile444Met) c.1053C>G (p.Ile351Met) c.318C>G (p.Ile106Met) n.510C>G c.159C>G (p.Ile53Met) n.385C>G | gnomAD v4 |
| 16 | g.21710073C>T | CA494117622 | OTOA | c.1290C>T (p.Ile430=) c.*104C>T (n.*104C>T) c.1332C>T (p.Ile444=) c.1053C>T (p.Ile351=) c.318C>T (p.Ile106=) n.510C>T c.159C>T (p.Ile53=) n.385C>T | |
| 16 | g.21710074T>A | CA395062706 | OTOA | c.1291T>A (p.Leu431Met) c.*105T>A (n.*105T>A) c.1333T>A (p.Leu445Met) c.1054T>A (p.Leu352Met) c.319T>A (p.Leu107Met) n.511T>A c.160T>A (p.Leu54Met) n.386T>A | |
| 16 | g.21710074T>C | CA494117623 | OTOA | c.1291T>C (p.Leu431=) c.*105T>C (n.*105T>C) c.1333T>C (p.Leu445=) c.1054T>C (p.Leu352=) c.319T>C (p.Leu107=) n.511T>C c.160T>C (p.Leu54=) n.386T>C | |
| 16 | g.21710074T>G | CA395062707 | OTOA | c.1291T>G (p.Leu431Val) c.*105T>G (n.*105T>G) c.1333T>G (p.Leu445Val) c.1054T>G (p.Leu352Val) c.319T>G (p.Leu107Val) n.511T>G c.160T>G (p.Leu54Val) n.386T>G | |
| 16 | g.21710075T>A | CA395062708 | OTOA | c.1292T>A (p.Leu431Ter) c.*106T>A (n.*106T>A) c.1334T>A (p.Leu445Ter) c.1055T>A (p.Leu352Ter) c.320T>A (p.Leu107Ter) n.512T>A c.161T>A (p.Leu54Ter) n.387T>A | |
| 16 | g.21710075T>C | CA395062709 | OTOA | c.1292T>C (p.Leu431Ser) c.*106T>C (n.*106T>C) c.1334T>C (p.Leu445Ser) c.1055T>C (p.Leu352Ser) c.320T>C (p.Leu107Ser) n.512T>C c.161T>C (p.Leu54Ser) n.387T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710075T>G | CA395062710 | OTOA | c.1292T>G (p.Leu431Trp) c.*106T>G (n.*106T>G) c.1334T>G (p.Leu445Trp) c.1055T>G (p.Leu352Trp) c.320T>G (p.Leu107Trp) n.512T>G c.161T>G (p.Leu54Trp) n.387T>G | |
| 16 | g.21710075T= | CA2212563614 | OTOA | c.1292T= (p.Leu431=) c.*106T= (n.*106T=) c.1334T= (p.Leu445=) c.1055T= (p.Leu352=) c.320T= (p.Leu107=) n.512T= c.161T= (p.Leu54=) n.387T= | |
| 16 | g.21710076del | CA645586371 | OTOA | c.1293del (p.Leu431PhefsTer?) c.*107del (n.*107del) c.1335del (p.Leu445PhefsTer?) c.1056del (p.Leu352PhefsTer?) c.321del (p.Leu107PhefsTer?) n.513del c.162del (p.Leu54PhefsTer?) n.388del | COSMIC COSMIC COSMIC |
| 16 | g.21710076G>A | CA494117633 | OTOA | c.1293G>A (p.Leu431=) c.*107G>A (n.*107G>A) c.1335G>A (p.Leu445=) c.1056G>A (p.Leu352=) c.321G>A (p.Leu107=) n.513G>A c.162G>A (p.Leu54=) n.388G>A | |
| 16 | g.21710076G>C | CA395062711 | OTOA | c.1293G>C (p.Leu431Phe) c.*107G>C (n.*107G>C) c.1335G>C (p.Leu445Phe) c.1056G>C (p.Leu352Phe) c.321G>C (p.Leu107Phe) n.513G>C c.162G>C (p.Leu54Phe) n.388G>C | |
| 16 | g.21710076G>T | CA395062712 | OTOA | c.1293G>T (p.Leu431Phe) c.*107G>T (n.*107G>T) c.1335G>T (p.Leu445Phe) c.1056G>T (p.Leu352Phe) c.321G>T (p.Leu107Phe) n.513G>T c.162G>T (p.Leu54Phe) n.388G>T | |
| 16 | g.21710077T>A | CA395062713 | OTOA | c.1294T>A (p.Ser432Thr) c.*108T>A (n.*108T>A) c.1336T>A (p.Ser446Thr) c.1057T>A (p.Ser353Thr) c.322T>A (p.Ser108Thr) n.514T>A c.163T>A (p.Ser55Thr) n.389T>A | |
| 16 | g.21710077T>C | CA395062715 | OTOA | c.1294T>C (p.Ser432Pro) c.*108T>C (n.*108T>C) c.1336T>C (p.Ser446Pro) c.1057T>C (p.Ser353Pro) c.322T>C (p.Ser108Pro) n.514T>C c.163T>C (p.Ser55Pro) n.389T>C | |
| 16 | g.21710077T>G | CA395062714 | OTOA | c.1294T>G (p.Ser432Ala) c.*108T>G (n.*108T>G) c.1336T>G (p.Ser446Ala) c.1057T>G (p.Ser353Ala) c.322T>G (p.Ser108Ala) n.514T>G c.163T>G (p.Ser55Ala) n.389T>G | |
| 16 | g.21710078C>A | CA395062716 | OTOA | c.1295C>A (p.Ser432Tyr) c.*109C>A (n.*109C>A) c.1337C>A (p.Ser446Tyr) c.1058C>A (p.Ser353Tyr) c.323C>A (p.Ser108Tyr) n.515C>A c.164C>A (p.Ser55Tyr) n.390C>A | |
| 16 | g.21710078C>G | CA395062718 | OTOA | c.1295C>G (p.Ser432Cys) c.*109C>G (n.*109C>G) c.1337C>G (p.Ser446Cys) c.1058C>G (p.Ser353Cys) c.323C>G (p.Ser108Cys) n.515C>G c.164C>G (p.Ser55Cys) n.390C>G | |
| 16 | g.21710078C>T | CA395062717 | OTOA | c.1295C>T (p.Ser432Phe) c.*109C>T (n.*109C>T) c.1337C>T (p.Ser446Phe) c.1058C>T (p.Ser353Phe) c.323C>T (p.Ser108Phe) n.515C>T c.164C>T (p.Ser55Phe) n.390C>T | gnomAD v4 |
| 16 | g.21710079T>A | CA494117634 | OTOA | c.1296T>A (p.Ser432=) c.*110T>A (n.*110T>A) c.1338T>A (p.Ser446=) c.1059T>A (p.Ser353=) c.324T>A (p.Ser108=) n.516T>A c.165T>A (p.Ser55=) n.391T>A | |
| 16 | g.21710079T>C | CA494117635 | OTOA | c.1296T>C (p.Ser432=) c.*110T>C (n.*110T>C) c.1338T>C (p.Ser446=) c.1059T>C (p.Ser353=) c.324T>C (p.Ser108=) n.516T>C c.165T>C (p.Ser55=) n.391T>C | |
| 16 | g.21710079T>G | CA494117636 | OTOA | c.1296T>G (p.Ser432=) c.*110T>G (n.*110T>G) c.1338T>G (p.Ser446=) c.1059T>G (p.Ser353=) c.324T>G (p.Ser108=) n.516T>G c.165T>G (p.Ser55=) n.391T>G | |
| 16 | g.21710080G>A | CA395062719 | OTOA | c.1297G>A (p.Ala433Thr) c.*111G>A (n.*111G>A) c.1339G>A (p.Ala447Thr) c.1060G>A (p.Ala354Thr) c.325G>A (p.Ala109Thr) n.517G>A c.166G>A (p.Ala56Thr) n.392G>A | |
| 16 | g.21710080G>C | CA395062720 | OTOA | c.1297G>C (p.Ala433Pro) c.*111G>C (n.*111G>C) c.1339G>C (p.Ala447Pro) c.1060G>C (p.Ala354Pro) c.325G>C (p.Ala109Pro) n.517G>C c.166G>C (p.Ala56Pro) n.392G>C | |
| 16 | g.21710080G>T | CA395062721 | OTOA | c.1297G>T (p.Ala433Ser) c.*111G>T (n.*111G>T) c.1339G>T (p.Ala447Ser) c.1060G>T (p.Ala354Ser) c.325G>T (p.Ala109Ser) n.517G>T c.166G>T (p.Ala56Ser) n.392G>T | |
| 16 | g.21710081C>A | CA395062722 | OTOA | c.1298C>A (p.Ala433Asp) c.*112C>A (n.*112C>A) c.1340C>A (p.Ala447Asp) c.1061C>A (p.Ala354Asp) c.326C>A (p.Ala109Asp) n.518C>A c.167C>A (p.Ala56Asp) n.393C>A | gnomAD v4 |
| 16 | g.21710081C>G | CA395062723 | OTOA | c.1298C>G (p.Ala433Gly) c.*112C>G (n.*112C>G) c.1340C>G (p.Ala447Gly) c.1061C>G (p.Ala354Gly) c.326C>G (p.Ala109Gly) n.518C>G c.167C>G (p.Ala56Gly) n.393C>G | gnomAD v4 |
| 16 | g.21710081C>T | CA395062724 | OTOA | c.1298C>T (p.Ala433Val) c.*112C>T (n.*112C>T) c.1340C>T (p.Ala447Val) c.1061C>T (p.Ala354Val) c.326C>T (p.Ala109Val) n.518C>T c.167C>T (p.Ala56Val) n.393C>T | |
| 16 | g.21710082C>A | CA494117639 | OTOA | c.1299C>A (p.Ala433=) c.*113C>A (n.*113C>A) c.1341C>A (p.Ala447=) c.1062C>A (p.Ala354=) c.327C>A (p.Ala109=) n.519C>A c.168C>A (p.Ala56=) n.394C>A | |
| 16 | g.21710082C= | CA2212563619 | OTOA | c.1299C= (p.Ala433=) c.*113C= (n.*113C=) c.1341C= (p.Ala447=) c.1062C= (p.Ala354=) c.327C= (p.Ala109=) n.519C= c.168C= (p.Ala56=) n.394C= | |
| 16 | g.21710082C>G | CA494117640 | OTOA | c.1299C>G (p.Ala433=) c.*113C>G (n.*113C>G) c.1341C>G (p.Ala447=) c.1062C>G (p.Ala354=) c.327C>G (p.Ala109=) n.519C>G c.168C>G (p.Ala56=) n.394C>G | |
| 16 | g.21710082C>T | CA494117642 | OTOA | c.1299C>T (p.Ala433=) c.*113C>T (n.*113C>T) c.1341C>T (p.Ala447=) c.1062C>T (p.Ala354=) c.327C>T (p.Ala109=) n.519C>T c.168C>T (p.Ala56=) n.394C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21710083A>C | CA395062725 | OTOA | c.1300A>C (p.Lys434Gln) c.*114A>C (n.*114A>C) c.1342A>C (p.Lys448Gln) c.1063A>C (p.Lys355Gln) c.328A>C (p.Lys110Gln) n.520A>C c.169A>C (p.Lys57Gln) n.395A>C | |
| 16 | g.21710083A>G | CA395062726 | OTOA | c.1300A>G (p.Lys434Glu) c.*114A>G (n.*114A>G) c.1342A>G (p.Lys448Glu) c.1063A>G (p.Lys355Glu) c.328A>G (p.Lys110Glu) n.520A>G c.169A>G (p.Lys57Glu) n.395A>G | |
| 16 | g.21710083A>T | CA395062727 | OTOA | c.1300A>T (p.Lys434Ter) c.*114A>T (n.*114A>T) c.1342A>T (p.Lys448Ter) c.1063A>T (p.Lys355Ter) c.328A>T (p.Lys110Ter) n.520A>T c.169A>T (p.Lys57Ter) n.395A>T | |
| 16 | g.21710084A>C | CA395062728 | OTOA | c.1301A>C (p.Lys434Thr) c.*115A>C (n.*115A>C) c.1343A>C (p.Lys448Thr) c.1064A>C (p.Lys355Thr) c.329A>C (p.Lys110Thr) n.521A>C c.170A>C (p.Lys57Thr) n.396A>C | |
| 16 | g.21710084A>G | CA395062729 | OTOA | c.1301A>G (p.Lys434Arg) c.*115A>G (n.*115A>G) c.1343A>G (p.Lys448Arg) c.1064A>G (p.Lys355Arg) c.329A>G (p.Lys110Arg) n.521A>G c.170A>G (p.Lys57Arg) n.396A>G | |
| 16 | g.21710084A>T | CA395062730 | OTOA | c.1301A>T (p.Lys434Ile) c.*115A>T (n.*115A>T) c.1343A>T (p.Lys448Ile) c.1064A>T (p.Lys355Ile) c.329A>T (p.Lys110Ile) n.521A>T c.170A>T (p.Lys57Ile) n.396A>T | |
| 16 | g.21710085A= | CA2212563622 | OTOA | c.1302A= (p.Lys434=) c.*116A= (n.*116A=) c.1344A= (p.Lys448=) c.1065A= (p.Lys355=) c.330A= (p.Lys110=) n.522A= c.171A= (p.Lys57=) n.397A= | |
| 16 | g.21710085A>C | CA395062732 | OTOA | c.1302A>C (p.Lys434Asn) c.*116A>C (n.*116A>C) c.1344A>C (p.Lys448Asn) c.1065A>C (p.Lys355Asn) c.330A>C (p.Lys110Asn) n.522A>C c.171A>C (p.Lys57Asn) n.397A>C | |
| 16 | g.21710085A>G | CA7952581 | OTOA | c.1302A>G (p.Lys434=) c.*116A>G (n.*116A>G) c.1344A>G (p.Lys448=) c.1065A>G (p.Lys355=) c.330A>G (p.Lys110=) n.522A>G c.171A>G (p.Lys57=) n.397A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21710085A>T | CA395062731 | OTOA | c.1302A>T (p.Lys434Asn) c.*116A>T (n.*116A>T) c.1344A>T (p.Lys448Asn) c.1065A>T (p.Lys355Asn) c.330A>T (p.Lys110Asn) n.522A>T c.171A>T (p.Lys57Asn) n.397A>T | |
| 16 | g.21710086T>A | CA395062733 | OTOA | c.1303T>A (p.Tyr435Asn) c.*117T>A (n.*117T>A) c.1345T>A (p.Tyr449Asn) c.1066T>A (p.Tyr356Asn) c.331T>A (p.Tyr111Asn) n.523T>A c.172T>A (p.Tyr58Asn) n.398T>A | |
| 16 | g.21710086T>C | CA395062734 | OTOA | c.1303T>C (p.Tyr435His) c.*117T>C (n.*117T>C) c.1345T>C (p.Tyr449His) c.1066T>C (p.Tyr356His) c.331T>C (p.Tyr111His) n.523T>C c.172T>C (p.Tyr58His) n.398T>C | |
| 16 | g.21710086T>G | CA395062735 | OTOA | c.1303T>G (p.Tyr435Asp) c.*117T>G (n.*117T>G) c.1345T>G (p.Tyr449Asp) c.1066T>G (p.Tyr356Asp) c.331T>G (p.Tyr111Asp) n.523T>G c.172T>G (p.Tyr58Asp) n.398T>G | |
| 16 | g.21710087A= | CA2212563628 | OTOA | c.1304A= (p.Tyr435=) c.*118A= (n.*118A=) c.1346A= (p.Tyr449=) c.1067A= (p.Tyr356=) c.332A= (p.Tyr111=) n.524A= c.173A= (p.Tyr58=) n.399A= | |
| 16 | g.21710087A>C | CA395062736 | OTOA | c.1304A>C (p.Tyr435Ser) c.*118A>C (n.*118A>C) c.1346A>C (p.Tyr449Ser) c.1067A>C (p.Tyr356Ser) c.332A>C (p.Tyr111Ser) n.524A>C c.173A>C (p.Tyr58Ser) n.399A>C | |
| 16 | g.21710087A>G | CA395062737 | OTOA | c.1304A>G (p.Tyr435Cys) c.*118A>G (n.*118A>G) c.1346A>G (p.Tyr449Cys) c.1067A>G (p.Tyr356Cys) c.332A>G (p.Tyr111Cys) n.524A>G c.173A>G (p.Tyr58Cys) n.399A>G | |
| 16 | g.21710087A>T | CA395062738 | OTOA | c.1304A>T (p.Tyr435Phe) c.*118A>T (n.*118A>T) c.1346A>T (p.Tyr449Phe) c.1067A>T (p.Tyr356Phe) c.332A>T (p.Tyr111Phe) n.524A>T c.173A>T (p.Tyr58Phe) n.399A>T | dbSNP |
| 16 | g.21710088C>A | CA395062739 | OTOA | c.1305C>A (p.Tyr435Ter) c.*119C>A (n.*119C>A) c.1347C>A (p.Tyr449Ter) c.1068C>A (p.Tyr356Ter) c.333C>A (p.Tyr111Ter) n.525C>A c.174C>A (p.Tyr58Ter) n.400C>A | |
| 16 | g.21710088C>G | CA395062740 | OTOA | c.1305C>G (p.Tyr435Ter) c.*119C>G (n.*119C>G) c.1347C>G (p.Tyr449Ter) c.1068C>G (p.Tyr356Ter) c.333C>G (p.Tyr111Ter) n.525C>G c.174C>G (p.Tyr58Ter) n.400C>G | |
| 16 | g.21710088C>T | CA494117646 | OTOA | c.1305C>T (p.Tyr435=) c.*119C>T (n.*119C>T) c.1347C>T (p.Tyr449=) c.1068C>T (p.Tyr356=) c.333C>T (p.Tyr111=) n.525C>T c.174C>T (p.Tyr58=) n.400C>T | |
| 16 | g.21710089T>A | CA395062741 | OTOA | c.1306T>A (p.Leu436Met) c.*120T>A (n.*120T>A) c.1348T>A (p.Leu450Met) c.1069T>A (p.Leu357Met) c.334T>A (p.Leu112Met) n.526T>A c.175T>A (p.Leu59Met) n.401T>A | |
| 16 | g.21710089T>C | CA494117647 | OTOA | c.1306T>C (p.Leu436=) c.*120T>C (n.*120T>C) c.1348T>C (p.Leu450=) c.1069T>C (p.Leu357=) c.334T>C (p.Leu112=) n.526T>C c.175T>C (p.Leu59=) n.401T>C | |
| 16 | g.21710089T>G | CA395062742 | OTOA | c.1306T>G (p.Leu436Val) c.*120T>G (n.*120T>G) c.1348T>G (p.Leu450Val) c.1069T>G (p.Leu357Val) c.334T>G (p.Leu112Val) n.526T>G c.175T>G (p.Leu59Val) n.401T>G | |
| 16 | g.21710090T>A | CA395062745 | OTOA | c.1307T>A (p.Leu436Ter) c.*121T>A (n.*121T>A) c.1349T>A (p.Leu450Ter) c.1070T>A (p.Leu357Ter) c.335T>A (p.Leu112Ter) n.527T>A c.176T>A (p.Leu59Ter) n.402T>A | |
| 16 | g.21710090T>C | CA395062744 | OTOA | c.1307T>C (p.Leu436Ser) c.*121T>C (n.*121T>C) c.1349T>C (p.Leu450Ser) c.1070T>C (p.Leu357Ser) c.335T>C (p.Leu112Ser) n.527T>C c.176T>C (p.Leu59Ser) n.402T>C | gnomAD v4 |
| 16 | g.21710090T>G | CA395062743 | OTOA | c.1307T>G (p.Leu436Trp) c.*121T>G (n.*121T>G) c.1349T>G (p.Leu450Trp) c.1070T>G (p.Leu357Trp) c.335T>G (p.Leu112Trp) n.527T>G c.176T>G (p.Leu59Trp) n.402T>G | |
| 16 | g.21710091G>A | CA494117648 | OTOA | c.1308G>A (p.Leu436=) c.*122G>A (n.*122G>A) c.1350G>A (p.Leu450=) c.1071G>A (p.Leu357=) c.336G>A (p.Leu112=) n.528G>A c.177G>A (p.Leu59=) n.403G>A | |
| 16 | g.21710091G>C | CA395062746 | OTOA | c.1308G>C (p.Leu436Phe) c.*122G>C (n.*122G>C) c.1350G>C (p.Leu450Phe) c.1071G>C (p.Leu357Phe) c.336G>C (p.Leu112Phe) n.528G>C c.177G>C (p.Leu59Phe) n.403G>C | |
| 16 | g.21710091G>T | CA395062747 | OTOA | c.1308G>T (p.Leu436Phe) c.*122G>T (n.*122G>T) c.1350G>T (p.Leu450Phe) c.1071G>T (p.Leu357Phe) c.336G>T (p.Leu112Phe) n.528G>T c.177G>T (p.Leu59Phe) n.403G>T | |
| 16 | g.21710092G>A | CA395062748 | OTOA | c.1309G>A (p.Ala437Thr) c.*123G>A (n.*123G>A) c.1351G>A (p.Ala451Thr) c.1072G>A (p.Ala358Thr) c.337G>A (p.Ala113Thr) n.529G>A c.178G>A (p.Ala60Thr) n.404G>A | |
| 16 | g.21710092G>C | CA395062749 | OTOA | c.1309G>C (p.Ala437Pro) c.*123G>C (n.*123G>C) c.1351G>C (p.Ala451Pro) c.1072G>C (p.Ala358Pro) c.337G>C (p.Ala113Pro) n.529G>C c.178G>C (p.Ala60Pro) n.404G>C | |
| 16 | g.21710092G>T | CA395062750 | OTOA | c.1309G>T (p.Ala437Ser) c.*123G>T (n.*123G>T) c.1351G>T (p.Ala451Ser) c.1072G>T (p.Ala358Ser) c.337G>T (p.Ala113Ser) n.529G>T c.178G>T (p.Ala60Ser) n.404G>T | |
| 16 | g.21710093C>A | CA395062751 | OTOA | c.1310C>A (p.Ala437Asp) c.*124C>A (n.*124C>A) c.1352C>A (p.Ala451Asp) c.1073C>A (p.Ala358Asp) c.338C>A (p.Ala113Asp) n.530C>A c.179C>A (p.Ala60Asp) n.405C>A | |
| 16 | g.21710093C>G | CA395062752 | OTOA | c.1310C>G (p.Ala437Gly) c.*124C>G (n.*124C>G) c.1352C>G (p.Ala451Gly) c.1073C>G (p.Ala358Gly) c.338C>G (p.Ala113Gly) n.530C>G c.179C>G (p.Ala60Gly) n.405C>G | |
| 16 | g.21710093C>T | CA395062753 | OTOA | c.1310C>T (p.Ala437Val) c.*124C>T (n.*124C>T) c.1352C>T (p.Ala451Val) c.1073C>T (p.Ala358Val) c.338C>T (p.Ala113Val) n.530C>T c.179C>T (p.Ala60Val) n.405C>T | gnomAD v4 |
| 16 | g.21710094C>A | CA494117652 | OTOA | c.1311C>A (p.Ala437=) c.*125C>A (n.*125C>A) c.1353C>A (p.Ala451=) c.1074C>A (p.Ala358=) c.339C>A (p.Ala113=) n.531C>A c.180C>A (p.Ala60=) n.406C>A | |
| 16 | g.21710094C>G | CA494117653 | OTOA | c.1311C>G (p.Ala437=) c.*125C>G (n.*125C>G) c.1353C>G (p.Ala451=) c.1074C>G (p.Ala358=) c.339C>G (p.Ala113=) n.531C>G c.180C>G (p.Ala60=) n.406C>G | |
| 16 | g.21710094C>T | CA494117654 | OTOA | c.1311C>T (p.Ala437=) c.*125C>T (n.*125C>T) c.1353C>T (p.Ala451=) c.1074C>T (p.Ala358=) c.339C>T (p.Ala113=) n.531C>T c.180C>T (p.Ala60=) n.406C>T | gnomAD v4 |
| 16 | g.21710095C>A | CA395062754 | OTOA | c.1312C>A (p.His438Asn) c.*126C>A (n.*126C>A) c.1354C>A (p.His452Asn) c.1075C>A (p.His359Asn) c.340C>A (p.His114Asn) n.532C>A c.181C>A (p.His61Asn) n.407C>A | |
| 16 | g.21710095C= | CA2212563630 | OTOA | c.1312C= (p.His438=) c.*126C= (n.*126C=) c.1354C= (p.His452=) c.1075C= (p.His359=) c.340C= (p.His114=) n.532C= c.181C= (p.His61=) n.407C= | |
| 16 | g.21710095C>G | CA395062755 | OTOA | c.1312C>G (p.His438Asp) c.*126C>G (n.*126C>G) c.1354C>G (p.His452Asp) c.1075C>G (p.His359Asp) c.340C>G (p.His114Asp) n.532C>G c.181C>G (p.His61Asp) n.407C>G | |
| 16 | g.21710095C>T | CA395062756 | OTOA | c.1312C>T (p.His438Tyr) c.*126C>T (n.*126C>T) c.1354C>T (p.His452Tyr) c.1075C>T (p.His359Tyr) c.340C>T (p.His114Tyr) n.532C>T c.181C>T (p.His61Tyr) n.407C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21710096A= | CA2212563635 | OTOA | c.1313A= (p.His438=) c.*127A= (n.*127A=) c.1355A= (p.His452=) c.1076A= (p.His359=) c.341A= (p.His114=) n.533A= c.182A= (p.His61=) n.408A= | |
| 16 | g.21710096A>C | CA395062759 | OTOA | c.1313A>C (p.His438Pro) c.*127A>C (n.*127A>C) c.1355A>C (p.His452Pro) c.1076A>C (p.His359Pro) c.341A>C (p.His114Pro) n.533A>C c.182A>C (p.His61Pro) n.408A>C | |
| 16 | g.21710096A>G | CA395062758 | OTOA | c.1313A>G (p.His438Arg) c.*127A>G (n.*127A>G) c.1355A>G (p.His452Arg) c.1076A>G (p.His359Arg) c.341A>G (p.His114Arg) n.533A>G c.182A>G (p.His61Arg) n.408A>G | dbSNP COSMIC |
| 16 | g.21710096A>T | CA395062757 | OTOA | c.1313A>T (p.His438Leu) c.*127A>T (n.*127A>T) c.1355A>T (p.His452Leu) c.1076A>T (p.His359Leu) c.341A>T (p.His114Leu) n.533A>T c.182A>T (p.His61Leu) n.408A>T |