| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.21709946G>A | CA395062207 | OTOA | c.1163G>A (p.Gly388Asp) c.1039G>A (p.Val347Ile) c.1205G>A (p.Gly402Asp) c.926G>A (p.Gly309Asp) c.191G>A (p.Gly64Asp) n.383G>A n.537G>A c.32G>A (p.Gly11Asp) n.258G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709946G>C | CA395062209 | OTOA | c.1163G>C (p.Gly388Ala) c.1039G>C (p.Val347Leu) c.1205G>C (p.Gly402Ala) c.926G>C (p.Gly309Ala) c.191G>C (p.Gly64Ala) n.383G>C n.537G>C c.32G>C (p.Gly11Ala) n.258G>C | |
| 16 | g.21709946G= | CA2212563406 | OTOA | c.1163G= (p.Gly388=) c.1039G= (p.Val347=) c.1205G= (p.Gly402=) c.926G= (p.Gly309=) c.191G= (p.Gly64=) n.383G= n.537G= c.32G= (p.Gly11=) n.258G= | |
| 16 | g.21709946G>T | CA395062211 | OTOA | c.1163G>T (p.Gly388Val) c.1039G>T (p.Val347Phe) c.1205G>T (p.Gly402Val) c.926G>T (p.Gly309Val) c.191G>T (p.Gly64Val) n.383G>T n.537G>T c.32G>T (p.Gly11Val) n.258G>T | gnomAD v4 |
| 16 | g.21709947T>A | CA494117517 | OTOA | c.1164T>A (p.Gly388=) c.1040T>A (p.Val347Asp) c.1206T>A (p.Gly402=) c.927T>A (p.Gly309=) c.192T>A (p.Gly64=) n.384T>A n.538T>A c.33T>A (p.Gly11=) n.259T>A | |
| 16 | g.21709947T>C | CA494117518 | OTOA | c.1164T>C (p.Gly388=) c.1040T>C (p.Val347Ala) c.1206T>C (p.Gly402=) c.927T>C (p.Gly309=) c.192T>C (p.Gly64=) n.384T>C n.538T>C c.33T>C (p.Gly11=) n.259T>C | gnomAD v4 |
| 16 | g.21709947T>G | CA494117519 | OTOA | c.1164T>G (p.Gly388=) c.1040T>G (p.Val347Gly) c.1206T>G (p.Gly402=) c.927T>G (p.Gly309=) c.192T>G (p.Gly64=) n.384T>G n.538T>G c.33T>G (p.Gly11=) n.259T>G | |
| 16 | g.21709948T>A | CA395062212 | OTOA | c.1165T>A (p.Ser389Thr) c.1041T>A (p.Val347=) c.1207T>A (p.Ser403Thr) c.928T>A (p.Ser310Thr) c.193T>A (p.Ser65Thr) n.385T>A n.539T>A c.34T>A (p.Ser12Thr) n.260T>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709948T>C | CA395062214 | OTOA | c.1165T>C (p.Ser389Pro) c.1041T>C (p.Val347=) c.1207T>C (p.Ser403Pro) c.928T>C (p.Ser310Pro) c.193T>C (p.Ser65Pro) n.385T>C n.539T>C c.34T>C (p.Ser12Pro) n.260T>C | |
| 16 | g.21709948T>G | CA395062216 | OTOA | c.1165T>G (p.Ser389Ala) c.1041T>G (p.Val347=) c.1207T>G (p.Ser403Ala) c.928T>G (p.Ser310Ala) c.193T>G (p.Ser65Ala) n.385T>G n.539T>G c.34T>G (p.Ser12Ala) n.260T>G | |
| 16 | g.21709948T= | CA2212563409 | OTOA | c.1165T= (p.Ser389=) c.1041T= (p.Val347=) c.1207T= (p.Ser403=) c.928T= (p.Ser310=) c.193T= (p.Ser65=) n.385T= n.539T= c.34T= (p.Ser12=) n.260T= | |
| 16 | g.21709949C>A | CA7952562 | OTOA | c.1166C>A (p.Ser389Tyr) c.1042C>A (p.Leu348Ile) c.1208C>A (p.Ser403Tyr) c.929C>A (p.Ser310Tyr) c.194C>A (p.Ser65Tyr) n.386C>A c.35C>A (p.Ser12Tyr) n.261C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.21709949C= | CA2212563415 | OTOA | c.1166C= (p.Ser389=) c.1042C= (p.Leu348=) c.1208C= (p.Ser403=) c.929C= (p.Ser310=) c.194C= (p.Ser65=) n.386C= c.35C= (p.Ser12=) n.261C= | |
| 16 | g.21709949C>G | CA395062221 | OTOA | c.1166C>G (p.Ser389Cys) c.1042C>G (p.Leu348Val) c.1208C>G (p.Ser403Cys) c.929C>G (p.Ser310Cys) c.194C>G (p.Ser65Cys) n.386C>G c.35C>G (p.Ser12Cys) n.261C>G | |
| 16 | g.21709949C>T | CA395062222 | OTOA | c.1166C>T (p.Ser389Phe) c.1042C>T (p.Leu348Phe) c.1208C>T (p.Ser403Phe) c.929C>T (p.Ser310Phe) c.194C>T (p.Ser65Phe) n.386C>T c.35C>T (p.Ser12Phe) n.261C>T | |
| 16 | g.21709950T>A | CA494117520 | OTOA | c.1167T>A (p.Ser389=) c.1043T>A (p.Leu348His) c.1209T>A (p.Ser403=) c.930T>A (p.Ser310=) c.195T>A (p.Ser65=) n.387T>A c.36T>A (p.Ser12=) n.262T>A | |
| 16 | g.21709950T>C | CA494117522 | OTOA | c.1167T>C (p.Ser389=) c.1043T>C (p.Leu348Pro) c.1209T>C (p.Ser403=) c.930T>C (p.Ser310=) c.195T>C (p.Ser65=) n.387T>C c.36T>C (p.Ser12=) n.262T>C | gnomAD v4 |
| 16 | g.21709950T>G | CA494117521 | OTOA | c.1167T>G (p.Ser389=) c.1043T>G (p.Leu348Arg) c.1209T>G (p.Ser403=) c.930T>G (p.Ser310=) c.195T>G (p.Ser65=) n.387T>G c.36T>G (p.Ser12=) n.262T>G | |
| 16 | g.21709952del | CA2575939976 | OTOA | c.1169del (p.Leu390CysfsTer6) c.1045del (p.Cys349ValfsTer?) c.1211del (p.Leu404CysfsTer6) c.932del (p.Leu311CysfsTer6) c.197del (p.Leu66CysfsTer6) n.389del c.38del (p.Leu13CysfsTer6) n.264del | |
| 16 | g.21709951T>A | CA395062224 | OTOA | c.1168T>A (p.Leu390Met) c.1044T>A (p.Leu348=) c.1210T>A (p.Leu404Met) c.931T>A (p.Leu311Met) c.196T>A (p.Leu66Met) n.388T>A c.37T>A (p.Leu13Met) n.263T>A | |
| 16 | g.21709951T>C | CA494117523 | OTOA | c.1168T>C (p.Leu390=) c.1044T>C (p.Leu348=) c.1210T>C (p.Leu404=) c.931T>C (p.Leu311=) c.196T>C (p.Leu66=) n.388T>C c.37T>C (p.Leu13=) n.263T>C | dbSNP |
| 16 | g.21709951T>G | CA395062226 | OTOA | c.1168T>G (p.Leu390Val) c.1044T>G (p.Leu348=) c.1210T>G (p.Leu404Val) c.931T>G (p.Leu311Val) c.196T>G (p.Leu66Val) n.388T>G c.37T>G (p.Leu13Val) n.263T>G | |
| 16 | g.21709951T= | CA2212563418 | OTOA | c.1168T= (p.Leu390=) c.1044T= (p.Leu348=) c.1210T= (p.Leu404=) c.931T= (p.Leu311=) c.196T= (p.Leu66=) n.388T= c.37T= (p.Leu13=) n.263T= | |
| 16 | g.21709951_21709952insA | CA2632220217 | OTOA | c.1168_1169insA (p.Leu390TyrfsTer?) c.1044_1045insA (p.Cys349MetfsTer?) c.1210_1211insA (p.Leu404TyrfsTer?) c.931_932insA (p.Leu311TyrfsTer?) c.196_197insA (p.Leu66TyrfsTer?) n.388_389insA c.37_38insA (p.Leu13TyrfsTer?) n.263_264insA | gnomAD v4 |
| 16 | g.21709952T>A | CA395062233 | OTOA | c.1169T>A (p.Leu390Ter) c.1045T>A (p.Cys349Ser) c.1211T>A (p.Leu404Ter) c.932T>A (p.Leu311Ter) c.197T>A (p.Leu66Ter) n.389T>A c.38T>A (p.Leu13Ter) n.264T>A | gnomAD v4 |
| 16 | g.21709952T>C | CA395062230 | OTOA | c.1169T>C (p.Leu390Ser) c.1045T>C (p.Cys349Arg) c.1211T>C (p.Leu404Ser) c.932T>C (p.Leu311Ser) c.197T>C (p.Leu66Ser) n.389T>C c.38T>C (p.Leu13Ser) n.264T>C | |
| 16 | g.21709952T>G | CA395062231 | OTOA | c.1169T>G (p.Leu390Trp) c.1045T>G (p.Cys349Gly) c.1211T>G (p.Leu404Trp) c.932T>G (p.Leu311Trp) c.197T>G (p.Leu66Trp) n.389T>G c.38T>G (p.Leu13Trp) n.264T>G | |
| 16 | g.21709953G>A | CA494117524 | OTOA | c.1170G>A (p.Leu390=) c.1046G>A (p.Cys349Tyr) c.1212G>A (p.Leu404=) c.933G>A (p.Leu311=) c.198G>A (p.Leu66=) n.390G>A c.39G>A (p.Leu13=) n.265G>A | gnomAD v4 COSMIC COSMIC |
| 16 | g.21709953G>C | CA395062235 | OTOA | c.1170G>C (p.Leu390Phe) c.1046G>C (p.Cys349Ser) c.1212G>C (p.Leu404Phe) c.933G>C (p.Leu311Phe) c.198G>C (p.Leu66Phe) n.390G>C c.39G>C (p.Leu13Phe) n.265G>C | |
| 16 | g.21709953G>T | CA395062237 | OTOA | c.1170G>T (p.Leu390Phe) c.1046G>T (p.Cys349Phe) c.1212G>T (p.Leu404Phe) c.933G>T (p.Leu311Phe) c.198G>T (p.Leu66Phe) n.390G>T c.39G>T (p.Leu13Phe) n.265G>T | |
| 16 | g.21709954T>A | CA395062240 | OTOA | c.1171T>A (p.Ser391Thr) c.1047T>A (p.Cys349Ter) c.1213T>A (p.Ser405Thr) c.934T>A (p.Ser312Thr) c.199T>A (p.Ser67Thr) n.391T>A c.40T>A (p.Ser14Thr) n.266T>A | |
| 16 | g.21709954T>C | CA395062242 | OTOA | c.1171T>C (p.Ser391Pro) c.1047T>C (p.Cys349=) c.1213T>C (p.Ser405Pro) c.934T>C (p.Ser312Pro) c.199T>C (p.Ser67Pro) n.391T>C c.40T>C (p.Ser14Pro) n.266T>C | |
| 16 | g.21709954T>G | CA395062244 | OTOA | c.1171T>G (p.Ser391Ala) c.1047T>G (p.Cys349Trp) c.1213T>G (p.Ser405Ala) c.934T>G (p.Ser312Ala) c.199T>G (p.Ser67Ala) n.391T>G c.40T>G (p.Ser14Ala) n.266T>G | |
| 16 | g.21709955C>A | CA395062247 | OTOA | c.1172C>A (p.Ser391Ter) c.1048C>A (p.Arg350=) c.1214C>A (p.Ser405Ter) c.935C>A (p.Ser312Ter) c.200C>A (p.Ser67Ter) n.392C>A c.41C>A (p.Ser14Ter) n.267C>A | |
| 16 | g.21709955C= | CA2212563427 | OTOA | c.1172C= (p.Ser391=) c.1048C= (p.Arg350=) c.1214C= (p.Ser405=) c.935C= (p.Ser312=) c.200C= (p.Ser67=) n.392C= c.41C= (p.Ser14=) n.267C= | |
| 16 | g.21709955C>G | CA279403723 | OTOA | c.1172C>G (p.Ser391Trp) c.1048C>G (p.Arg350Gly) c.1214C>G (p.Ser405Trp) c.935C>G (p.Ser312Trp) c.200C>G (p.Ser67Trp) n.392C>G c.41C>G (p.Ser14Trp) n.267C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709955C>T | CA183465 | OTOA | c.1172C>T (p.Ser391Leu) c.1048C>T (p.Arg350Trp) c.1214C>T (p.Ser405Leu) c.935C>T (p.Ser312Leu) c.200C>T (p.Ser67Leu) n.392C>T c.41C>T (p.Ser14Leu) n.267C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 16 | g.21709956G>A | CA7952563 | OTOA | c.1173G>A (p.Ser391=) c.1049G>A (p.Arg350Gln) c.1215G>A (p.Ser405=) c.936G>A (p.Ser312=) c.201G>A (p.Ser67=) n.393G>A c.42G>A (p.Ser14=) n.268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.21709956G>C | CA494117525 | OTOA | c.1173G>C (p.Ser391=) c.1049G>C (p.Arg350Pro) c.1215G>C (p.Ser405=) c.936G>C (p.Ser312=) c.201G>C (p.Ser67=) n.393G>C c.42G>C (p.Ser14=) n.268G>C | |
| 16 | g.21709956G= | CA2212563436 | OTOA | c.1173G= (p.Ser391=) c.1049G= (p.Arg350=) c.1215G= (p.Ser405=) c.936G= (p.Ser312=) c.201G= (p.Ser67=) n.393G= c.42G= (p.Ser14=) n.268G= | |
| 16 | g.21709956G>T | CA494117526 | OTOA | c.1173G>T (p.Ser391=) c.1049G>T (p.Arg350Leu) c.1215G>T (p.Ser405=) c.936G>T (p.Ser312=) c.201G>T (p.Ser67=) n.393G>T c.42G>T (p.Ser14=) n.268G>T | |
| 16 | g.21709957G>A | CA395062253 | OTOA | c.1174G>A (p.Asp392Asn) c.1050G>A (p.Arg350=) c.1216G>A (p.Asp406Asn) c.937G>A (p.Asp313Asn) c.202G>A (p.Asp68Asn) n.394G>A c.43G>A (p.Asp15Asn) n.269G>A | gnomAD v4 |
| 16 | g.21709957G>C | CA395062255 | OTOA | c.1174G>C (p.Asp392His) c.1050G>C (p.Arg350=) c.1216G>C (p.Asp406His) c.937G>C (p.Asp313His) c.202G>C (p.Asp68His) n.394G>C c.43G>C (p.Asp15His) n.269G>C | gnomAD v4 |
| 16 | g.21709957G>T | CA395062257 | OTOA | c.1174G>T (p.Asp392Tyr) c.1050G>T (p.Arg350=) c.1216G>T (p.Asp406Tyr) c.937G>T (p.Asp313Tyr) c.202G>T (p.Asp68Tyr) n.394G>T c.43G>T (p.Asp15Tyr) n.269G>T | |
| 16 | g.21709958A>C | CA395062260 | OTOA | c.1175A>C (p.Asp392Ala) c.1051A>C (p.Met351Leu) c.1217A>C (p.Asp406Ala) c.938A>C (p.Asp313Ala) c.203A>C (p.Asp68Ala) n.395A>C c.44A>C (p.Asp15Ala) n.270A>C | |
| 16 | g.21709958A>G | CA395062261 | OTOA | c.1175A>G (p.Asp392Gly) c.1051A>G (p.Met351Val) c.1217A>G (p.Asp406Gly) c.938A>G (p.Asp313Gly) c.203A>G (p.Asp68Gly) n.395A>G c.44A>G (p.Asp15Gly) n.270A>G | |
| 16 | g.21709958A>T | CA395062264 | OTOA | c.1175A>T (p.Asp392Val) c.1051A>T (p.Met351Leu) c.1217A>T (p.Asp406Val) c.938A>T (p.Asp313Val) c.203A>T (p.Asp68Val) n.395A>T c.44A>T (p.Asp15Val) n.270A>T | |
| 16 | g.21709959T>A | CA395062266 | OTOA | c.1176T>A (p.Asp392Glu) c.1052T>A (p.Met351Lys) c.1218T>A (p.Asp406Glu) c.939T>A (p.Asp313Glu) c.204T>A (p.Asp68Glu) n.396T>A c.45T>A (p.Asp15Glu) n.271T>A | gnomAD v4 |
| 16 | g.21709959T>C | CA494117527 | OTOA | c.1176T>C (p.Asp392=) c.1052T>C (p.Met351Thr) c.1218T>C (p.Asp406=) c.939T>C (p.Asp313=) c.204T>C (p.Asp68=) n.396T>C c.45T>C (p.Asp15=) n.271T>C | |
| 16 | g.21709959T>G | CA395062268 | OTOA | c.1176T>G (p.Asp392Glu) c.1052T>G (p.Met351Arg) c.1218T>G (p.Asp406Glu) c.939T>G (p.Asp313Glu) c.204T>G (p.Asp68Glu) n.396T>G c.45T>G (p.Asp15Glu) n.271T>G | dbSNP |
| 16 | g.21709959T= | CA2212563445 | OTOA | c.1176T= (p.Asp392=) c.1052T= (p.Met351=) c.1218T= (p.Asp406=) c.939T= (p.Asp313=) c.204T= (p.Asp68=) n.396T= c.45T= (p.Asp15=) n.271T= | |
| 16 | g.21709960G>A | CA395062271 | OTOA | c.1177G>A (p.Ala393Thr) c.1053G>A (p.Met351Ile) c.1219G>A (p.Ala407Thr) c.940G>A (p.Ala314Thr) c.205G>A (p.Ala69Thr) n.397G>A c.46G>A (p.Ala16Thr) n.272G>A | gnomAD v4 |
| 16 | g.21709960G>C | CA395062272 | OTOA | c.1177G>C (p.Ala393Pro) c.1053G>C (p.Met351Ile) c.1219G>C (p.Ala407Pro) c.940G>C (p.Ala314Pro) c.205G>C (p.Ala69Pro) n.397G>C c.46G>C (p.Ala16Pro) n.272G>C | |
| 16 | g.21709960G>T | CA395062275 | OTOA | c.1177G>T (p.Ala393Ser) c.1053G>T (p.Met351Ile) c.1219G>T (p.Ala407Ser) c.940G>T (p.Ala314Ser) c.205G>T (p.Ala69Ser) n.397G>T c.46G>T (p.Ala16Ser) n.272G>T | |
| 16 | g.21709961C>A | CA395062277 | OTOA | c.1178C>A (p.Ala393Glu) c.1054C>A (p.Gln352Lys) c.1220C>A (p.Ala407Glu) c.941C>A (p.Ala314Glu) c.206C>A (p.Ala69Glu) n.398C>A c.47C>A (p.Ala16Glu) n.273C>A | |
| 16 | g.21709961C>G | CA395062279 | OTOA | c.1178C>G (p.Ala393Gly) c.1054C>G (p.Gln352Glu) c.1220C>G (p.Ala407Gly) c.941C>G (p.Ala314Gly) c.206C>G (p.Ala69Gly) n.398C>G c.47C>G (p.Ala16Gly) n.273C>G | |
| 16 | g.21709961C>T | CA395062281 | OTOA | c.1178C>T (p.Ala393Val) c.1054C>T (p.Gln352Ter) c.1220C>T (p.Ala407Val) c.941C>T (p.Ala314Val) c.206C>T (p.Ala69Val) n.398C>T c.47C>T (p.Ala16Val) n.273C>T | |
| 16 | g.21709962A>C | CA494117528 | OTOA | c.1179A>C (p.Ala393=) c.1055A>C (p.Gln352Pro) c.1221A>C (p.Ala407=) c.942A>C (p.Ala314=) c.207A>C (p.Ala69=) n.399A>C c.48A>C (p.Ala16=) n.274A>C | |
| 16 | g.21709962A>G | CA494117530 | OTOA | c.1179A>G (p.Ala393=) c.1055A>G (p.Gln352Arg) c.1221A>G (p.Ala407=) c.942A>G (p.Ala314=) c.207A>G (p.Ala69=) n.399A>G c.48A>G (p.Ala16=) n.274A>G | |
| 16 | g.21709962A>T | CA494117529 | OTOA | c.1179A>T (p.Ala393=) c.1055A>T (p.Gln352Leu) c.1221A>T (p.Ala407=) c.942A>T (p.Ala314=) c.207A>T (p.Ala69=) n.399A>T c.48A>T (p.Ala16=) n.274A>T | |
| 16 | g.21709963G>A | CA395062284 | OTOA | c.1180G>A (p.Val394Ile) c.1056G>A (p.Gln352=) c.1222G>A (p.Val408Ile) c.943G>A (p.Val315Ile) c.208G>A (p.Val70Ile) n.400G>A c.49G>A (p.Val17Ile) n.275G>A | |
| 16 | g.21709963G>C | CA395062285 | OTOA | c.1180G>C (p.Val394Leu) c.1056G>C (p.Gln352His) c.1222G>C (p.Val408Leu) c.943G>C (p.Val315Leu) c.208G>C (p.Val70Leu) n.400G>C c.49G>C (p.Val17Leu) n.275G>C | |
| 16 | g.21709963G>T | CA395062286 | OTOA | c.1180G>T (p.Val394Phe) c.1056G>T (p.Gln352His) c.1222G>T (p.Val408Phe) c.943G>T (p.Val315Phe) c.208G>T (p.Val70Phe) n.400G>T c.49G>T (p.Val17Phe) n.275G>T | |
| 16 | g.21709964T>A | CA395062288 | OTOA | c.1181T>A (p.Val394Asp) c.1057T>A (p.Leu353Met) c.1223T>A (p.Val408Asp) c.944T>A (p.Val315Asp) c.209T>A (p.Val70Asp) n.401T>A c.50T>A (p.Val17Asp) n.276T>A | |
| 16 | g.21709964T>C | CA395062290 | OTOA | c.1181T>C (p.Val394Ala) c.1057T>C (p.Leu353=) c.1223T>C (p.Val408Ala) c.944T>C (p.Val315Ala) c.209T>C (p.Val70Ala) n.401T>C c.50T>C (p.Val17Ala) n.276T>C | |
| 16 | g.21709964T>G | CA395062292 | OTOA | c.1181T>G (p.Val394Gly) c.1057T>G (p.Leu353Val) c.1223T>G (p.Val408Gly) c.944T>G (p.Val315Gly) c.209T>G (p.Val70Gly) n.401T>G c.50T>G (p.Val17Gly) n.276T>G | |
| 16 | g.21709965T>A | CA494117531 | OTOA | c.1182T>A (p.Val394=) c.1058T>A (p.Leu353Ter) c.1224T>A (p.Val408=) c.945T>A (p.Val315=) c.210T>A (p.Val70=) n.402T>A c.51T>A (p.Val17=) n.277T>A | |
| 16 | g.21709965T>C | CA494117532 | OTOA | c.1182T>C (p.Val394=) c.1058T>C (p.Leu353Ser) c.1224T>C (p.Val408=) c.945T>C (p.Val315=) c.210T>C (p.Val70=) n.402T>C c.51T>C (p.Val17=) n.277T>C | gnomAD v4 |
| 16 | g.21709965T>G | CA494117533 | OTOA | c.1182T>G (p.Val394=) c.1058T>G (p.Leu353Trp) c.1224T>G (p.Val408=) c.945T>G (p.Val315=) c.210T>G (p.Val70=) n.402T>G c.51T>G (p.Val17=) n.277T>G | |
| 16 | g.21709966G>A | CA395062295 | OTOA | c.1183G>A (p.Val395Ile) c.1059G>A (p.Leu353=) c.1225G>A (p.Val409Ile) c.946G>A (p.Val316Ile) c.211G>A (p.Val71Ile) n.403G>A c.52G>A (p.Val18Ile) n.278G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21709966G>C | CA395062299 | OTOA | c.1183G>C (p.Val395Leu) c.1059G>C (p.Leu353Phe) c.1225G>C (p.Val409Leu) c.946G>C (p.Val316Leu) c.211G>C (p.Val71Leu) n.403G>C c.52G>C (p.Val18Leu) n.278G>C | |
| 16 | g.21709966G= | CA2212563450 | OTOA | c.1183G= (p.Val395=) c.1059G= (p.Leu353=) c.1225G= (p.Val409=) c.946G= (p.Val316=) c.211G= (p.Val71=) n.403G= c.52G= (p.Val18=) n.278G= | |
| 16 | g.21709966G>T | CA395062297 | OTOA | c.1183G>T (p.Val395Leu) c.1059G>T (p.Leu353Phe) c.1225G>T (p.Val409Leu) c.946G>T (p.Val316Leu) c.211G>T (p.Val71Leu) n.403G>T c.52G>T (p.Val18Leu) n.278G>T | |
| 16 | g.21709967T>A | CA395062302 | OTOA | c.1184T>A (p.Val395Glu) c.1060T>A (p.Ter354Lys) c.1226T>A (p.Val409Glu) c.947T>A (p.Val316Glu) c.212T>A (p.Val71Glu) n.404T>A c.53T>A (p.Val18Glu) n.279T>A | |
| 16 | g.21709967T>C | CA395062303 | OTOA | c.1184T>C (p.Val395Ala) c.1060T>C (p.Ter354Gln) c.1226T>C (p.Val409Ala) c.947T>C (p.Val316Ala) c.212T>C (p.Val71Ala) n.404T>C c.53T>C (p.Val18Ala) n.279T>C | |
| 16 | g.21709967T>G | CA395062305 | OTOA | c.1184T>G (p.Val395Gly) c.1060T>G (p.Ter354Glu) c.1226T>G (p.Val409Gly) c.947T>G (p.Val316Gly) c.212T>G (p.Val71Gly) n.404T>G c.53T>G (p.Val18Gly) n.279T>G | |
| 16 | g.21709968A>C | CA494117534 | OTOA | c.1185A>C (p.Val395=) c.1061A>C (p.Ter354Ser) c.1227A>C (p.Val409=) c.948A>C (p.Val316=) c.213A>C (p.Val71=) n.405A>C c.54A>C (p.Val18=) n.280A>C | |
| 16 | g.21709968A>G | CA494117535 | OTOA | c.1185A>G (p.Val395=) c.1061A>G (p.Ter354Trp) c.1227A>G (p.Val409=) c.948A>G (p.Val316=) c.213A>G (p.Val71=) n.405A>G c.54A>G (p.Val18=) n.280A>G | |
| 16 | g.21709968A>T | CA494117536 | OTOA | c.1185A>T (p.Val395=) c.1061A>T (p.Ter354Leu) c.1227A>T (p.Val409=) c.948A>T (p.Val316=) c.213A>T (p.Val71=) n.405A>T c.54A>T (p.Val18=) n.280A>T | |
| 16 | g.21709969G>A | CA395062309 | OTOA | c.1186G>A (p.Gly396Ser) c.1062G>A (p.Ter354=) c.1228G>A (p.Gly410Ser) c.949G>A (p.Gly317Ser) c.214G>A (p.Gly72Ser) n.406G>A c.55G>A (p.Gly19Ser) n.281G>A | ClinVar dbSNP |
| 16 | g.21709969G>C | CA395062311 | OTOA | c.1186G>C (p.Gly396Arg) c.1062G>C (p.Ter354Tyr) c.1228G>C (p.Gly410Arg) c.949G>C (p.Gly317Arg) c.214G>C (p.Gly72Arg) n.406G>C c.55G>C (p.Gly19Arg) n.281G>C | |
| 16 | g.21709969G= | CA2212563456 | OTOA | c.1186G= (p.Gly396=) c.1062G= (p.Ter354=) c.1228G= (p.Gly410=) c.949G= (p.Gly317=) c.214G= (p.Gly72=) n.406G= c.55G= (p.Gly19=) n.281G= | |
| 16 | g.21709969G>T | CA395062312 | OTOA | c.1186G>T (p.Gly396Cys) c.1062G>T (p.Ter354Tyr) c.1228G>T (p.Gly410Cys) c.949G>T (p.Gly317Cys) c.214G>T (p.Gly72Cys) n.406G>T c.55G>T (p.Gly19Cys) n.281G>T | gnomAD v4 |
| 16 | g.21709970G>A | CA395062316 | OTOA | c.1187G>A (p.Gly396Asp) c.*1G>A (n.*1G>A) c.1229G>A (p.Gly410Asp) c.950G>A (p.Gly317Asp) c.215G>A (p.Gly72Asp) n.407G>A c.56G>A (p.Gly19Asp) n.282G>A | |
| 16 | g.21709970G>C | CA395062317 | OTOA | c.1187G>C (p.Gly396Ala) c.*1G>C (n.*1G>C) c.1229G>C (p.Gly410Ala) c.950G>C (p.Gly317Ala) c.215G>C (p.Gly72Ala) n.407G>C c.56G>C (p.Gly19Ala) n.282G>C | dbSNP gnomAD v2 |
| 16 | g.21709970G= | CA2212563460 | OTOA | c.1187G= (p.Gly396=) c.*1G= (n.*1G=) c.1229G= (p.Gly410=) c.950G= (p.Gly317=) c.215G= (p.Gly72=) n.407G= c.56G= (p.Gly19=) n.282G= | |
| 16 | g.21709970G>T | CA395062318 | OTOA | c.1187G>T (p.Gly396Val) c.*1G>T (n.*1G>T) c.1229G>T (p.Gly410Val) c.950G>T (p.Gly317Val) c.215G>T (p.Gly72Val) n.407G>T c.56G>T (p.Gly19Val) n.282G>T | |
| 16 | g.21709971T>A | CA494117539 | OTOA | c.1188T>A (p.Gly396=) c.*2T>A (n.*2T>A) c.1230T>A (p.Gly410=) c.951T>A (p.Gly317=) c.216T>A (p.Gly72=) n.408T>A c.57T>A (p.Gly19=) n.283T>A | |
| 16 | g.21709971T>C | CA494117538 | OTOA | c.1188T>C (p.Gly396=) c.*2T>C (n.*2T>C) c.1230T>C (p.Gly410=) c.951T>C (p.Gly317=) c.216T>C (p.Gly72=) n.408T>C c.57T>C (p.Gly19=) n.283T>C | |
| 16 | g.21709971T>G | CA494117537 | OTOA | c.1188T>G (p.Gly396=) c.*2T>G (n.*2T>G) c.1230T>G (p.Gly410=) c.951T>G (p.Gly317=) c.216T>G (p.Gly72=) n.408T>G c.57T>G (p.Gly19=) n.283T>G | |
| 16 | g.21709972T>A | CA395062321 | OTOA | c.1189T>A (p.Leu397Met) c.*3T>A (n.*3T>A) c.1231T>A (p.Leu411Met) c.952T>A (p.Leu318Met) c.217T>A (p.Leu73Met) n.409T>A c.58T>A (p.Leu20Met) n.284T>A | |
| 16 | g.21709972T>C | CA494117540 | OTOA | c.1189T>C (p.Leu397=) c.*3T>C (n.*3T>C) c.1231T>C (p.Leu411=) c.952T>C (p.Leu318=) c.217T>C (p.Leu73=) n.409T>C c.58T>C (p.Leu20=) n.284T>C | |
| 16 | g.21709972T>G | CA395062322 | OTOA | c.1189T>G (p.Leu397Val) c.*3T>G (n.*3T>G) c.1231T>G (p.Leu411Val) c.952T>G (p.Leu318Val) c.217T>G (p.Leu73Val) n.409T>G c.58T>G (p.Leu20Val) n.284T>G | |
| 16 | g.21709973T>A | CA395062325 | OTOA | c.1190T>A (p.Leu397Ter) c.*4T>A (n.*4T>A) c.1232T>A (p.Leu411Ter) c.953T>A (p.Leu318Ter) c.218T>A (p.Leu73Ter) n.410T>A c.59T>A (p.Leu20Ter) n.285T>A | |
| 16 | g.21709973T>C | CA395062326 | OTOA | c.1190T>C (p.Leu397Ser) c.*4T>C (n.*4T>C) c.1232T>C (p.Leu411Ser) c.953T>C (p.Leu318Ser) c.218T>C (p.Leu73Ser) n.410T>C c.59T>C (p.Leu20Ser) n.285T>C | |
| 16 | g.21709973T>G | CA7952564 | OTOA | c.1190T>G (p.Leu397Trp) c.*4T>G (n.*4T>G) c.1232T>G (p.Leu411Trp) c.953T>G (p.Leu318Trp) c.218T>G (p.Leu73Trp) n.410T>G c.59T>G (p.Leu20Trp) n.285T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709973T= | CA2212563464 | OTOA | c.1190T= (p.Leu397=) c.*4T= (n.*4T=) c.1232T= (p.Leu411=) c.953T= (p.Leu318=) c.218T= (p.Leu73=) n.410T= c.59T= (p.Leu20=) n.285T= | |
| 16 | g.21709974G>A | CA494117541 | OTOA | c.1191G>A (p.Leu397=) c.*5G>A (n.*5G>A) c.1233G>A (p.Leu411=) c.954G>A (p.Leu318=) c.219G>A (p.Leu73=) n.411G>A c.60G>A (p.Leu20=) n.286G>A | |
| 16 | g.21709974G>C | CA395062329 | OTOA | c.1191G>C (p.Leu397Phe) c.*5G>C (n.*5G>C) c.1233G>C (p.Leu411Phe) c.954G>C (p.Leu318Phe) c.219G>C (p.Leu73Phe) n.411G>C c.60G>C (p.Leu20Phe) n.286G>C | dbSNP |
| 16 | g.21709974G>T | CA395062328 | OTOA | c.1191G>T (p.Leu397Phe) c.*5G>T (n.*5G>T) c.1233G>T (p.Leu411Phe) c.954G>T (p.Leu318Phe) c.219G>T (p.Leu73Phe) n.411G>T c.60G>T (p.Leu20Phe) n.286G>T | |
| 16 | g.21709975A>C | CA395062331 | OTOA | c.1192A>C (p.Thr398Pro) c.*6A>C (n.*6A>C) c.1234A>C (p.Thr412Pro) c.955A>C (p.Thr319Pro) c.220A>C (p.Thr74Pro) n.412A>C c.61A>C (p.Thr21Pro) n.287A>C | gnomAD v4 |
| 16 | g.21709975A>G | CA395062333 | OTOA | c.1192A>G (p.Thr398Ala) c.*6A>G (n.*6A>G) c.1234A>G (p.Thr412Ala) c.955A>G (p.Thr319Ala) c.220A>G (p.Thr74Ala) n.412A>G c.61A>G (p.Thr21Ala) n.287A>G | |
| 16 | g.21709975A>T | CA395062335 | OTOA | c.1192A>T (p.Thr398Ser) c.*6A>T (n.*6A>T) c.1234A>T (p.Thr412Ser) c.955A>T (p.Thr319Ser) c.220A>T (p.Thr74Ser) n.412A>T c.61A>T (p.Thr21Ser) n.287A>T | |
| 16 | g.21709976C>A | CA395062338 | OTOA | c.1193C>A (p.Thr398Asn) c.*7C>A (n.*7C>A) c.1235C>A (p.Thr412Asn) c.956C>A (p.Thr319Asn) c.221C>A (p.Thr74Asn) n.413C>A c.62C>A (p.Thr21Asn) n.288C>A | |
| 16 | g.21709976C>G | CA395062339 | OTOA | c.1193C>G (p.Thr398Ser) c.*7C>G (n.*7C>G) c.1235C>G (p.Thr412Ser) c.956C>G (p.Thr319Ser) c.221C>G (p.Thr74Ser) n.413C>G c.62C>G (p.Thr21Ser) n.288C>G | |
| 16 | g.21709976C>T | CA395062342 | OTOA | c.1193C>T (p.Thr398Ile) c.*7C>T (n.*7C>T) c.1235C>T (p.Thr412Ile) c.956C>T (p.Thr319Ile) c.221C>T (p.Thr74Ile) n.413C>T c.62C>T (p.Thr21Ile) n.288C>T | |
| 16 | g.21709977C>A | CA494117542 | OTOA | c.1194C>A (p.Thr398=) c.*8C>A (n.*8C>A) c.1236C>A (p.Thr412=) c.957C>A (p.Thr319=) c.222C>A (p.Thr74=) n.414C>A c.63C>A (p.Thr21=) n.289C>A | |
| 16 | g.21709977C>G | CA494117543 | OTOA | c.1194C>G (p.Thr398=) c.*8C>G (n.*8C>G) c.1236C>G (p.Thr412=) c.957C>G (p.Thr319=) c.222C>G (p.Thr74=) n.414C>G c.63C>G (p.Thr21=) n.289C>G | gnomAD v4 |
| 16 | g.21709977C>T | CA494117544 | OTOA | c.1194C>T (p.Thr398=) c.*8C>T (n.*8C>T) c.1236C>T (p.Thr412=) c.957C>T (p.Thr319=) c.222C>T (p.Thr74=) n.414C>T c.63C>T (p.Thr21=) n.289C>T | gnomAD v4 |
| 16 | g.21709978T>A | CA395062349 | OTOA | c.1195T>A (p.Tyr399Asn) c.*9T>A (n.*9T>A) c.1237T>A (p.Tyr413Asn) c.958T>A (p.Tyr320Asn) c.223T>A (p.Tyr75Asn) n.415T>A c.64T>A (p.Tyr22Asn) n.290T>A | |
| 16 | g.21709978T>C | CA395062345 | OTOA | c.1195T>C (p.Tyr399His) c.*9T>C (n.*9T>C) c.1237T>C (p.Tyr413His) c.958T>C (p.Tyr320His) c.223T>C (p.Tyr75His) n.415T>C c.64T>C (p.Tyr22His) n.290T>C | |
| 16 | g.21709978T>G | CA395062347 | OTOA | c.1195T>G (p.Tyr399Asp) c.*9T>G (n.*9T>G) c.1237T>G (p.Tyr413Asp) c.958T>G (p.Tyr320Asp) c.223T>G (p.Tyr75Asp) n.415T>G c.64T>G (p.Tyr22Asp) n.290T>G | |
| 16 | g.21709979A>C | CA395062351 | OTOA | c.1196A>C (p.Tyr399Ser) c.*10A>C (n.*10A>C) c.1238A>C (p.Tyr413Ser) c.959A>C (p.Tyr320Ser) c.224A>C (p.Tyr75Ser) n.416A>C c.65A>C (p.Tyr22Ser) n.291A>C | |
| 16 | g.21709979A>G | CA395062353 | OTOA | c.1196A>G (p.Tyr399Cys) c.*10A>G (n.*10A>G) c.1238A>G (p.Tyr413Cys) c.959A>G (p.Tyr320Cys) c.224A>G (p.Tyr75Cys) n.416A>G c.65A>G (p.Tyr22Cys) n.291A>G | |
| 16 | g.21709979A>T | CA395062355 | OTOA | c.1196A>T (p.Tyr399Phe) c.*10A>T (n.*10A>T) c.1238A>T (p.Tyr413Phe) c.959A>T (p.Tyr320Phe) c.224A>T (p.Tyr75Phe) n.416A>T c.65A>T (p.Tyr22Phe) n.291A>T | |
| 16 | g.21709980C>A | CA395062358 | OTOA | c.1197C>A (p.Tyr399Ter) c.*11C>A (n.*11C>A) c.1239C>A (p.Tyr413Ter) c.960C>A (p.Tyr320Ter) c.225C>A (p.Tyr75Ter) n.417C>A c.66C>A (p.Tyr22Ter) n.292C>A | |
| 16 | g.21709980C>G | CA395062360 | OTOA | c.1197C>G (p.Tyr399Ter) c.*11C>G (n.*11C>G) c.1239C>G (p.Tyr413Ter) c.960C>G (p.Tyr320Ter) c.225C>G (p.Tyr75Ter) n.417C>G c.66C>G (p.Tyr22Ter) n.292C>G | gnomAD v4 |
| 16 | g.21709980C>T | CA494117545 | OTOA | c.1197C>T (p.Tyr399=) c.*11C>T (n.*11C>T) c.1239C>T (p.Tyr413=) c.960C>T (p.Tyr320=) c.225C>T (p.Tyr75=) n.417C>T c.66C>T (p.Tyr22=) n.292C>T | gnomAD v4 |
| 16 | g.21709981A>C | CA395062362 | OTOA | c.1198A>C (p.Ser400Arg) c.*12A>C (n.*12A>C) c.1240A>C (p.Ser414Arg) c.961A>C (p.Ser321Arg) c.226A>C (p.Ser76Arg) n.418A>C c.67A>C (p.Ser23Arg) n.293A>C | |
| 16 | g.21709981A>G | CA395062367 | OTOA | c.1198A>G (p.Ser400Gly) c.*12A>G (n.*12A>G) c.1240A>G (p.Ser414Gly) c.961A>G (p.Ser321Gly) c.226A>G (p.Ser76Gly) n.418A>G c.67A>G (p.Ser23Gly) n.293A>G | |
| 16 | g.21709981A>T | CA395062365 | OTOA | c.1198A>T (p.Ser400Cys) c.*12A>T (n.*12A>T) c.1240A>T (p.Ser414Cys) c.961A>T (p.Ser321Cys) c.226A>T (p.Ser76Cys) n.418A>T c.67A>T (p.Ser23Cys) n.293A>T | |
| 16 | g.21709982G>A | CA395062369 | OTOA | c.1199G>A (p.Ser400Asn) c.*13G>A (n.*13G>A) c.1241G>A (p.Ser414Asn) c.962G>A (p.Ser321Asn) c.227G>A (p.Ser76Asn) n.419G>A c.68G>A (p.Ser23Asn) n.294G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21709982G>C | CA395062371 | OTOA | c.1199G>C (p.Ser400Thr) c.*13G>C (n.*13G>C) c.1241G>C (p.Ser414Thr) c.962G>C (p.Ser321Thr) c.227G>C (p.Ser76Thr) n.419G>C c.68G>C (p.Ser23Thr) n.294G>C | |
| 16 | g.21709982G= | CA2212563468 | OTOA | c.1199G= (p.Ser400=) c.*13G= (n.*13G=) c.1241G= (p.Ser414=) c.962G= (p.Ser321=) c.227G= (p.Ser76=) n.419G= c.68G= (p.Ser23=) n.294G= | |
| 16 | g.21709982G>T | CA395062372 | OTOA | c.1199G>T (p.Ser400Ile) c.*13G>T (n.*13G>T) c.1241G>T (p.Ser414Ile) c.962G>T (p.Ser321Ile) c.227G>T (p.Ser76Ile) n.419G>T c.68G>T (p.Ser23Ile) n.294G>T | |
| 16 | g.21709983C>A | CA395062375 | OTOA | c.1200C>A (p.Ser400Arg) c.*14C>A (n.*14C>A) c.1242C>A (p.Ser414Arg) c.963C>A (p.Ser321Arg) c.228C>A (p.Ser76Arg) n.420C>A c.69C>A (p.Ser23Arg) n.295C>A | |
| 16 | g.21709983C>G | CA395062377 | OTOA | c.1200C>G (p.Ser400Arg) c.*14C>G (n.*14C>G) c.1242C>G (p.Ser414Arg) c.963C>G (p.Ser321Arg) c.228C>G (p.Ser76Arg) n.420C>G c.69C>G (p.Ser23Arg) n.295C>G | |
| 16 | g.21709983C>T | CA494117546 | OTOA | c.1200C>T (p.Ser400=) c.*14C>T (n.*14C>T) c.1242C>T (p.Ser414=) c.963C>T (p.Ser321=) c.228C>T (p.Ser76=) n.420C>T c.69C>T (p.Ser23=) n.295C>T | |
| 16 | g.21709984C>A | CA395062380 | OTOA | c.1201C>A (p.Gln401Lys) c.*15C>A (n.*15C>A) c.1243C>A (p.Gln415Lys) c.964C>A (p.Gln322Lys) c.229C>A (p.Gln77Lys) n.421C>A c.70C>A (p.Gln24Lys) n.296C>A | |
| 16 | g.21709984C>G | CA395062382 | OTOA | c.1201C>G (p.Gln401Glu) c.*15C>G (n.*15C>G) c.1243C>G (p.Gln415Glu) c.964C>G (p.Gln322Glu) c.229C>G (p.Gln77Glu) n.421C>G c.70C>G (p.Gln24Glu) n.296C>G | |
| 16 | g.21709984C>T | CA395062384 | OTOA | c.1201C>T (p.Gln401Ter) c.*15C>T (n.*15C>T) c.1243C>T (p.Gln415Ter) c.964C>T (p.Gln322Ter) c.229C>T (p.Gln77Ter) n.421C>T c.70C>T (p.Gln24Ter) n.296C>T | |
| 16 | g.21709985A>C | CA395062386 | OTOA | c.1202A>C (p.Gln401Pro) c.*16A>C (n.*16A>C) c.1244A>C (p.Gln415Pro) c.965A>C (p.Gln322Pro) c.230A>C (p.Gln77Pro) n.422A>C c.71A>C (p.Gln24Pro) n.297A>C | |
| 16 | g.21709985A>G | CA395062388 | OTOA | c.1202A>G (p.Gln401Arg) c.*16A>G (n.*16A>G) c.1244A>G (p.Gln415Arg) c.965A>G (p.Gln322Arg) c.230A>G (p.Gln77Arg) n.422A>G c.71A>G (p.Gln24Arg) n.297A>G | |
| 16 | g.21709985A>T | CA395062390 | OTOA | c.1202A>T (p.Gln401Leu) c.*16A>T (n.*16A>T) c.1244A>T (p.Gln415Leu) c.965A>T (p.Gln322Leu) c.230A>T (p.Gln77Leu) n.422A>T c.71A>T (p.Gln24Leu) n.297A>T | |
| 16 | g.21709986A= | CA2212563471 | OTOA | c.1203A= (p.Gln401=) c.*17A= (n.*17A=) c.1245A= (p.Gln415=) c.966A= (p.Gln322=) c.231A= (p.Gln77=) n.423A= c.72A= (p.Gln24=) n.298A= | |
| 16 | g.21709986A>C | CA395062392 | OTOA | c.1203A>C (p.Gln401His) c.*17A>C (n.*17A>C) c.1245A>C (p.Gln415His) c.966A>C (p.Gln322His) c.231A>C (p.Gln77His) n.423A>C c.72A>C (p.Gln24His) n.298A>C | gnomAD v4 |
| 16 | g.21709986A>G | CA494117547 | OTOA | c.1203A>G (p.Gln401=) c.*17A>G (n.*17A>G) c.1245A>G (p.Gln415=) c.966A>G (p.Gln322=) c.231A>G (p.Gln77=) n.423A>G c.72A>G (p.Gln24=) n.298A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709986A>T | CA395062394 | OTOA | c.1203A>T (p.Gln401His) c.*17A>T (n.*17A>T) c.1245A>T (p.Gln415His) c.966A>T (p.Gln322His) c.231A>T (p.Gln77His) n.423A>T c.72A>T (p.Gln24His) n.298A>T | |
| 16 | g.21709987C>A | CA395062396 | OTOA | c.1204C>A (p.Leu402Met) c.*18C>A (n.*18C>A) c.1246C>A (p.Leu416Met) c.967C>A (p.Leu323Met) c.232C>A (p.Leu78Met) n.424C>A c.73C>A (p.Leu25Met) n.299C>A | gnomAD v4 |
| 16 | g.21709987C>G | CA395062398 | OTOA | c.1204C>G (p.Leu402Val) c.*18C>G (n.*18C>G) c.1246C>G (p.Leu416Val) c.967C>G (p.Leu323Val) c.232C>G (p.Leu78Val) n.424C>G c.73C>G (p.Leu25Val) n.299C>G | |
| 16 | g.21709987C>T | CA494117548 | OTOA | c.1204C>T (p.Leu402=) c.*18C>T (n.*18C>T) c.1246C>T (p.Leu416=) c.967C>T (p.Leu323=) c.232C>T (p.Leu78=) n.424C>T c.73C>T (p.Leu25=) n.299C>T | |
| 16 | g.21709988T>A | CA395062399 | OTOA | c.1205T>A (p.Leu402Gln) c.*19T>A (n.*19T>A) c.1247T>A (p.Leu416Gln) c.968T>A (p.Leu323Gln) c.233T>A (p.Leu78Gln) n.425T>A c.74T>A (p.Leu25Gln) n.300T>A | |
| 16 | g.21709988T>C | CA395062401 | OTOA | c.1205T>C (p.Leu402Pro) c.*19T>C (n.*19T>C) c.1247T>C (p.Leu416Pro) c.968T>C (p.Leu323Pro) c.233T>C (p.Leu78Pro) n.425T>C c.74T>C (p.Leu25Pro) n.300T>C | gnomAD v4 |
| 16 | g.21709988T>G | CA395062402 | OTOA | c.1205T>G (p.Leu402Arg) c.*19T>G (n.*19T>G) c.1247T>G (p.Leu416Arg) c.968T>G (p.Leu323Arg) c.233T>G (p.Leu78Arg) n.425T>G c.74T>G (p.Leu25Arg) n.300T>G | |
| 16 | g.21709989G>A | CA494117549 | OTOA | c.1206G>A (p.Leu402=) c.*20G>A (n.*20G>A) c.1248G>A (p.Leu416=) c.969G>A (p.Leu323=) c.234G>A (p.Leu78=) n.426G>A c.75G>A (p.Leu25=) n.301G>A | |
| 16 | g.21709989G>C | CA494117550 | OTOA | c.1206G>C (p.Leu402=) c.*20G>C (n.*20G>C) c.1248G>C (p.Leu416=) c.969G>C (p.Leu323=) c.234G>C (p.Leu78=) n.426G>C c.75G>C (p.Leu25=) n.301G>C | |
| 16 | g.21709989G>T | CA494117551 | OTOA | c.1206G>T (p.Leu402=) c.*20G>T (n.*20G>T) c.1248G>T (p.Leu416=) c.969G>T (p.Leu323=) c.234G>T (p.Leu78=) n.426G>T c.75G>T (p.Leu25=) n.301G>T | gnomAD v4 |
| 16 | g.21709990G>A | CA395062405 | OTOA | c.1207G>A (p.Glu403Lys) c.*21G>A (n.*21G>A) c.1249G>A (p.Glu417Lys) c.970G>A (p.Glu324Lys) c.235G>A (p.Glu79Lys) n.427G>A c.76G>A (p.Glu26Lys) n.302G>A | |
| 16 | g.21709990G>C | CA395062407 | OTOA | c.1207G>C (p.Glu403Gln) c.*21G>C (n.*21G>C) c.1249G>C (p.Glu417Gln) c.970G>C (p.Glu324Gln) c.235G>C (p.Glu79Gln) n.427G>C c.76G>C (p.Glu26Gln) n.302G>C | |
| 16 | g.21709990G>T | CA395062409 | OTOA | c.1207G>T (p.Glu403Ter) c.*21G>T (n.*21G>T) c.1249G>T (p.Glu417Ter) c.970G>T (p.Glu324Ter) c.235G>T (p.Glu79Ter) n.427G>T c.76G>T (p.Glu26Ter) n.302G>T | |
| 16 | g.21709991A>C | CA395062410 | OTOA | c.1208A>C (p.Glu403Ala) c.*22A>C (n.*22A>C) c.1250A>C (p.Glu417Ala) c.971A>C (p.Glu324Ala) c.236A>C (p.Glu79Ala) n.428A>C c.77A>C (p.Glu26Ala) n.303A>C | |
| 16 | g.21709991A>G | CA395062412 | OTOA | c.1208A>G (p.Glu403Gly) c.*22A>G (n.*22A>G) c.1250A>G (p.Glu417Gly) c.971A>G (p.Glu324Gly) c.236A>G (p.Glu79Gly) n.428A>G c.77A>G (p.Glu26Gly) n.303A>G | |
| 16 | g.21709991A>T | CA395062414 | OTOA | c.1208A>T (p.Glu403Val) c.*22A>T (n.*22A>T) c.1250A>T (p.Glu417Val) c.971A>T (p.Glu324Val) c.236A>T (p.Glu79Val) n.428A>T c.77A>T (p.Glu26Val) n.303A>T | |
| 16 | g.21709992A>C | CA395062416 | OTOA | c.1209A>C (p.Glu403Asp) c.*23A>C (n.*23A>C) c.1251A>C (p.Glu417Asp) c.972A>C (p.Glu324Asp) c.237A>C (p.Glu79Asp) n.429A>C c.78A>C (p.Glu26Asp) n.304A>C | |
| 16 | g.21709992A>G | CA494117552 | OTOA | c.1209A>G (p.Glu403=) c.*23A>G (n.*23A>G) c.1251A>G (p.Glu417=) c.972A>G (p.Glu324=) c.237A>G (p.Glu79=) n.429A>G c.78A>G (p.Glu26=) n.304A>G | ClinVar |
| 16 | g.21709992A>T | CA395062418 | OTOA | c.1209A>T (p.Glu403Asp) c.*23A>T (n.*23A>T) c.1251A>T (p.Glu417Asp) c.972A>T (p.Glu324Asp) c.237A>T (p.Glu79Asp) n.429A>T c.78A>T (p.Glu26Asp) n.304A>T | gnomAD v4 |
| 16 | g.21709993T>A | CA395062421 | OTOA | c.1210T>A (p.Ser404Thr) c.*24T>A (n.*24T>A) c.1252T>A (p.Ser418Thr) c.973T>A (p.Ser325Thr) c.238T>A (p.Ser80Thr) n.430T>A c.79T>A (p.Ser27Thr) n.305T>A | |
| 16 | g.21709993T>C | CA395062425 | OTOA | c.1210T>C (p.Ser404Pro) c.*24T>C (n.*24T>C) c.1252T>C (p.Ser418Pro) c.973T>C (p.Ser325Pro) c.238T>C (p.Ser80Pro) n.430T>C c.79T>C (p.Ser27Pro) n.305T>C | |
| 16 | g.21709993T>G | CA395062423 | OTOA | c.1210T>G (p.Ser404Ala) c.*24T>G (n.*24T>G) c.1252T>G (p.Ser418Ala) c.973T>G (p.Ser325Ala) c.238T>G (p.Ser80Ala) n.430T>G c.79T>G (p.Ser27Ala) n.305T>G | |
| 16 | g.21709994C>A | CA395062428 | OTOA | c.1211C>A (p.Ser404Tyr) c.*25C>A (n.*25C>A) c.1253C>A (p.Ser418Tyr) c.974C>A (p.Ser325Tyr) c.239C>A (p.Ser80Tyr) n.431C>A c.80C>A (p.Ser27Tyr) n.306C>A | |
| 16 | g.21709994C= | CA2212563473 | OTOA | c.1211C= (p.Ser404=) c.*25C= (n.*25C=) c.1253C= (p.Ser418=) c.974C= (p.Ser325=) c.239C= (p.Ser80=) n.431C= c.80C= (p.Ser27=) n.306C= | |
| 16 | g.21709994C>G | CA395062431 | OTOA | c.1211C>G (p.Ser404Cys) c.*25C>G (n.*25C>G) c.1253C>G (p.Ser418Cys) c.974C>G (p.Ser325Cys) c.239C>G (p.Ser80Cys) n.431C>G c.80C>G (p.Ser27Cys) n.306C>G | |
| 16 | g.21709994C>T | CA279403727 | OTOA | c.1211C>T (p.Ser404Phe) c.*25C>T (n.*25C>T) c.1253C>T (p.Ser418Phe) c.974C>T (p.Ser325Phe) c.239C>T (p.Ser80Phe) n.431C>T c.80C>T (p.Ser27Phe) n.306C>T | dbSNP |
| 16 | g.21709995C>A | CA494117553 | OTOA | c.1212C>A (p.Ser404=) c.*26C>A (n.*26C>A) c.1254C>A (p.Ser418=) c.975C>A (p.Ser325=) c.240C>A (p.Ser80=) n.432C>A c.81C>A (p.Ser27=) n.307C>A | |
| 16 | g.21709995C= | CA2212563478 | OTOA | c.1212C= (p.Ser404=) c.*26C= (n.*26C=) c.1254C= (p.Ser418=) c.975C= (p.Ser325=) c.240C= (p.Ser80=) n.432C= c.81C= (p.Ser27=) n.307C= | |
| 16 | g.21709995C>G | CA494117554 | OTOA | c.1212C>G (p.Ser404=) c.*26C>G (n.*26C>G) c.1254C>G (p.Ser418=) c.975C>G (p.Ser325=) c.240C>G (p.Ser80=) n.432C>G c.81C>G (p.Ser27=) n.307C>G | |
| 16 | g.21709995C>T | CA279403728 | OTOA | c.1212C>T (p.Ser404=) c.*26C>T (n.*26C>T) c.1254C>T (p.Ser418=) c.975C>T (p.Ser325=) c.240C>T (p.Ser80=) n.432C>T c.81C>T (p.Ser27=) n.307C>T | dbSNP gnomAD v4 |
| 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 |