| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.21709899A= | CA2212563294 | OTOA | c.1116A= (p.Glu372=) c.992A= (p.Asn331=) c.1158A= (p.Glu386=) c.879A= (p.Glu293=) c.144A= (p.Glu48=) n.336A= n.490A= c.-16A= (n.-16A=) n.211A= | |
| 16 | g.21709899A>C | CA395061958 | OTOA | c.1116A>C (p.Glu372Asp) c.992A>C (p.Asn331Thr) c.1158A>C (p.Glu386Asp) c.879A>C (p.Glu293Asp) c.144A>C (p.Glu48Asp) n.336A>C n.490A>C c.-16A>C (n.-16A>C) n.211A>C | |
| 16 | g.21709899A>G | CA494117458 | OTOA | c.1116A>G (p.Glu372=) c.992A>G (p.Asn331Ser) c.1158A>G (p.Glu386=) c.879A>G (p.Glu293=) c.144A>G (p.Glu48=) n.336A>G n.490A>G c.-16A>G (n.-16A>G) n.211A>G | dbSNP |
| 16 | g.21709899A>T | CA395061960 | OTOA | c.1116A>T (p.Glu372Asp) c.992A>T (p.Asn331Ile) c.1158A>T (p.Glu386Asp) c.879A>T (p.Glu293Asp) c.144A>T (p.Glu48Asp) n.336A>T n.490A>T c.-16A>T (n.-16A>T) n.211A>T | |
| 16 | g.21709900C>A | CA395061964 | OTOA | c.1117C>A (p.Leu373Ile) c.993C>A (p.Asn331Lys) c.1159C>A (p.Leu387Ile) c.880C>A (p.Leu294Ile) c.145C>A (p.Leu49Ile) n.337C>A n.491C>A c.-15C>A (n.-15C>A) n.212C>A | |
| 16 | g.21709900C>G | CA395061968 | OTOA | c.1117C>G (p.Leu373Val) c.993C>G (p.Asn331Lys) c.1159C>G (p.Leu387Val) c.880C>G (p.Leu294Val) c.145C>G (p.Leu49Val) n.337C>G n.491C>G c.-15C>G (n.-15C>G) n.212C>G | |
| 16 | g.21709900C>T | CA395061966 | OTOA | c.1117C>T (p.Leu373Phe) c.993C>T (p.Asn331=) c.1159C>T (p.Leu387Phe) c.880C>T (p.Leu294Phe) c.145C>T (p.Leu49Phe) n.337C>T n.491C>T c.-15C>T (n.-15C>T) n.212C>T | |
| 16 | g.21709902_21709904del | CA2632220215 | OTOA | c.1119_1121del (p.Leu374del) c.995_997del (p.Ser332del) c.1161_1163del (p.Leu388del) c.882_884del (p.Leu295del) c.147_149del (p.Leu50del) n.339_341del n.493_495del c.-13_-11del (n.-13_-11del) n.214_216del | gnomAD v4 |
| 16 | g.21709901T>A | CA395061971 | OTOA | c.1118T>A (p.Leu373His) c.994T>A (p.Ser332Thr) c.1160T>A (p.Leu387His) c.881T>A (p.Leu294His) c.146T>A (p.Leu49His) n.338T>A n.492T>A c.-14T>A (n.-14T>A) n.213T>A | |
| 16 | g.21709901T>C | CA395061973 | OTOA | c.1118T>C (p.Leu373Pro) c.994T>C (p.Ser332Pro) c.1160T>C (p.Leu387Pro) c.881T>C (p.Leu294Pro) c.146T>C (p.Leu49Pro) n.338T>C n.492T>C c.-14T>C (n.-14T>C) n.213T>C | dbSNP |
| 16 | g.21709901T>G | CA395061975 | OTOA | c.1118T>G (p.Leu373Arg) c.994T>G (p.Ser332Ala) c.1160T>G (p.Leu387Arg) c.881T>G (p.Leu294Arg) c.146T>G (p.Leu49Arg) n.338T>G n.492T>G c.-14T>G (n.-14T>G) n.213T>G | |
| 16 | g.21709902C>A | CA494117460 | OTOA | c.1119C>A (p.Leu373=) c.995C>A (p.Ser332Tyr) c.1161C>A (p.Leu387=) c.882C>A (p.Leu294=) c.147C>A (p.Leu49=) n.339C>A n.493C>A c.-13C>A (n.-13C>A) n.214C>A | |
| 16 | g.21709902C= | CA2212563297 | OTOA | c.1119C= (p.Leu373=) c.995C= (p.Ser332=) c.1161C= (p.Leu387=) c.882C= (p.Leu294=) c.147C= (p.Leu49=) n.339C= n.493C= c.-13C= (n.-13C=) n.214C= | |
| 16 | g.21709902C>G | CA7952551 | OTOA | c.1119C>G (p.Leu373=) c.995C>G (p.Ser332Cys) c.1161C>G (p.Leu387=) c.882C>G (p.Leu294=) c.147C>G (p.Leu49=) n.339C>G n.493C>G c.-13C>G (n.-13C>G) n.214C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709902C>T | CA7952552 | OTOA | c.1119C>T (p.Leu373=) c.995C>T (p.Ser332Phe) c.1161C>T (p.Leu387=) c.882C>T (p.Leu294=) c.147C>T (p.Leu49=) n.339C>T n.493C>T c.-13C>T (n.-13C>T) n.214C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709903C>A | CA395061980 | OTOA | c.1120C>A (p.Leu374Met) c.996C>A (p.Ser332=) c.1162C>A (p.Leu388Met) c.883C>A (p.Leu295Met) c.148C>A (p.Leu50Met) n.340C>A n.494C>A c.-12C>A (n.-12C>A) n.215C>A | |
| 16 | g.21709903C>G | CA395061982 | OTOA | c.1120C>G (p.Leu374Val) c.996C>G (p.Ser332=) c.1162C>G (p.Leu388Val) c.883C>G (p.Leu295Val) c.148C>G (p.Leu50Val) n.340C>G n.494C>G c.-12C>G (n.-12C>G) n.215C>G | |
| 16 | g.21709903C>T | CA494117462 | OTOA | c.1120C>T (p.Leu374=) c.996C>T (p.Ser332=) c.1162C>T (p.Leu388=) c.883C>T (p.Leu295=) c.148C>T (p.Leu50=) n.340C>T n.494C>T c.-12C>T (n.-12C>T) n.215C>T | gnomAD v4 |
| 16 | g.21709904T>A | CA395061984 | OTOA | c.1121T>A (p.Leu374Gln) c.997T>A (p.Trp333Arg) c.1163T>A (p.Leu388Gln) c.884T>A (p.Leu295Gln) c.149T>A (p.Leu50Gln) n.341T>A n.495T>A c.-11T>A (n.-11T>A) n.216T>A | |
| 16 | g.21709904T>C | CA395061986 | OTOA | c.1121T>C (p.Leu374Pro) c.997T>C (p.Trp333Arg) c.1163T>C (p.Leu388Pro) c.884T>C (p.Leu295Pro) c.149T>C (p.Leu50Pro) n.341T>C n.495T>C c.-11T>C (n.-11T>C) n.216T>C | gnomAD v4 |
| 16 | g.21709904T>G | CA395061987 | OTOA | c.1121T>G (p.Leu374Arg) c.997T>G (p.Trp333Gly) c.1163T>G (p.Leu388Arg) c.884T>G (p.Leu295Arg) c.149T>G (p.Leu50Arg) n.341T>G n.495T>G c.-11T>G (n.-11T>G) n.216T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709904T= | CA2212563305 | OTOA | c.1121T= (p.Leu374=) c.997T= (p.Trp333=) c.1163T= (p.Leu388=) c.884T= (p.Leu295=) c.149T= (p.Leu50=) n.341T= n.495T= c.-11T= (n.-11T=) n.216T= | |
| 16 | g.21709905G>A | CA494117464 | OTOA | c.1122G>A (p.Leu374=) c.998G>A (p.Trp333Ter) c.1164G>A (p.Leu388=) c.885G>A (p.Leu295=) c.150G>A (p.Leu50=) n.342G>A n.496G>A c.-10G>A (n.-10G>A) n.217G>A | |
| 16 | g.21709905G>C | CA494117465 | OTOA | c.1122G>C (p.Leu374=) c.998G>C (p.Trp333Ser) c.1164G>C (p.Leu388=) c.885G>C (p.Leu295=) c.150G>C (p.Leu50=) n.342G>C n.496G>C c.-10G>C (n.-10G>C) n.217G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709905G= | CA2212563307 | OTOA | c.1122G= (p.Leu374=) c.998G= (p.Trp333=) c.1164G= (p.Leu388=) c.885G= (p.Leu295=) c.150G= (p.Leu50=) n.342G= n.496G= c.-10G= (n.-10G=) n.217G= | |
| 16 | g.21709905G>T | CA494117466 | OTOA | c.1122G>T (p.Leu374=) c.998G>T (p.Trp333Leu) c.1164G>T (p.Leu388=) c.885G>T (p.Leu295=) c.150G>T (p.Leu50=) n.342G>T n.496G>T c.-10G>T (n.-10G>T) n.217G>T | |
| 16 | g.21709906G>A | CA395061991 | OTOA | c.1123G>A (p.Asp375Asn) c.999G>A (p.Trp333Ter) c.1165G>A (p.Asp389Asn) c.886G>A (p.Asp296Asn) c.151G>A (p.Asp51Asn) n.343G>A n.497G>A c.-9G>A (n.-9G>A) n.218G>A | |
| 16 | g.21709906G>C | CA395061992 | OTOA | c.1123G>C (p.Asp375His) c.999G>C (p.Trp333Cys) c.1165G>C (p.Asp389His) c.886G>C (p.Asp296His) c.151G>C (p.Asp51His) n.343G>C n.497G>C c.-9G>C (n.-9G>C) n.218G>C | dbSNP gnomAD v4 |
| 16 | g.21709906G= | CA2212563310 | OTOA | c.1123G= (p.Asp375=) c.999G= (p.Trp333=) c.1165G= (p.Asp389=) c.886G= (p.Asp296=) c.151G= (p.Asp51=) n.343G= n.497G= c.-9G= (n.-9G=) n.218G= | |
| 16 | g.21709906G>T | CA395061994 | OTOA | c.1123G>T (p.Asp375Tyr) c.999G>T (p.Trp333Cys) c.1165G>T (p.Asp389Tyr) c.886G>T (p.Asp296Tyr) c.151G>T (p.Asp51Tyr) n.343G>T n.497G>T c.-9G>T (n.-9G>T) n.218G>T | |
| 16 | g.21709907A= | CA2212563314 | OTOA | c.1124A= (p.Asp375=) c.1000A= (p.Thr334=) c.1166A= (p.Asp389=) c.887A= (p.Asp296=) c.152A= (p.Asp51=) n.344A= n.498A= c.-8A= (n.-8A=) n.219A= | |
| 16 | g.21709907A>C | CA395062000 | OTOA | c.1124A>C (p.Asp375Ala) c.1000A>C (p.Thr334Pro) c.1166A>C (p.Asp389Ala) c.887A>C (p.Asp296Ala) c.152A>C (p.Asp51Ala) n.344A>C n.498A>C c.-8A>C (n.-8A>C) n.219A>C | |
| 16 | g.21709907A>G | CA395061997 | OTOA | c.1124A>G (p.Asp375Gly) c.1000A>G (p.Thr334Ala) c.1166A>G (p.Asp389Gly) c.887A>G (p.Asp296Gly) c.152A>G (p.Asp51Gly) n.344A>G n.498A>G c.-8A>G (n.-8A>G) n.219A>G | |
| 16 | g.21709907A>T | CA395061998 | OTOA | c.1124A>T (p.Asp375Val) c.1000A>T (p.Thr334Ser) c.1166A>T (p.Asp389Val) c.887A>T (p.Asp296Val) c.152A>T (p.Asp51Val) n.344A>T n.498A>T c.-8A>T (n.-8A>T) n.219A>T | |
| 16 | g.21709908C>A | CA395062004 | OTOA | c.1125C>A (p.Asp375Glu) c.1001C>A (p.Thr334Lys) c.1167C>A (p.Asp389Glu) c.888C>A (p.Asp296Glu) c.153C>A (p.Asp51Glu) n.345C>A n.499C>A c.-7C>A (n.-7C>A) n.220C>A | |
| 16 | g.21709908C= | CA2212563319 | OTOA | c.1125C= (p.Asp375=) c.1001C= (p.Thr334=) c.1167C= (p.Asp389=) c.888C= (p.Asp296=) c.153C= (p.Asp51=) n.345C= n.499C= c.-7C= (n.-7C=) n.220C= | |
| 16 | g.21709908C>G | CA395062006 | OTOA | c.1125C>G (p.Asp375Glu) c.1001C>G (p.Thr334Arg) c.1167C>G (p.Asp389Glu) c.888C>G (p.Asp296Glu) c.153C>G (p.Asp51Glu) n.345C>G n.499C>G c.-7C>G (n.-7C>G) n.220C>G | |
| 16 | g.21709908C>T | CA7952554 | OTOA | c.1125C>T (p.Asp375=) c.1001C>T (p.Thr334Ile) c.1167C>T (p.Asp389=) c.888C>T (p.Asp296=) c.153C>T (p.Asp51=) n.345C>T n.499C>T c.-7C>T (n.-7C>T) n.220C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709909_21709913dup | CA7952553 | OTOA | c.1126_1130dup (p.Met378LeufsTer20) c.1002_1006dup (p.Pro336HisfsTer10) c.1168_1172dup (p.Met392LeufsTer20) c.889_893dup (p.Met299LeufsTer20) c.154_158dup (p.Met54LeufsTer20) n.346_350dup n.500_504dup c.-6_-2dup (n.-6_-2dup) n.221_225dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709909A= | CA2212563325 | OTOA | c.1126A= (p.Ile376=) c.1002A= (p.Thr334=) c.1168A= (p.Ile390=) c.889A= (p.Ile297=) c.154A= (p.Ile52=) n.346A= n.500A= c.-6A= (n.-6A=) n.221A= | |
| 16 | g.21709909A>C | CA395062008 | OTOA | c.1126A>C (p.Ile376Leu) c.1002A>C (p.Thr334=) c.1168A>C (p.Ile390Leu) c.889A>C (p.Ile297Leu) c.154A>C (p.Ile52Leu) n.346A>C n.500A>C c.-6A>C (n.-6A>C) n.221A>C | |
| 16 | g.21709909A>G | CA7952555 | OTOA | c.1126A>G (p.Ile376Val) c.1002A>G (p.Thr334=) c.1168A>G (p.Ile390Val) c.889A>G (p.Ile297Val) c.154A>G (p.Ile52Val) n.346A>G n.500A>G c.-6A>G (n.-6A>G) n.221A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709909A>T | CA395062012 | OTOA | c.1126A>T (p.Ile376Phe) c.1002A>T (p.Thr334=) c.1168A>T (p.Ile390Phe) c.889A>T (p.Ile297Phe) c.154A>T (p.Ile52Phe) n.346A>T n.500A>T c.-6A>T (n.-6A>T) n.221A>T | |
| 16 | g.21709910T>A | CA395062015 | OTOA | c.1127T>A (p.Ile376Asn) c.1003T>A (p.Leu335Met) c.1169T>A (p.Ile390Asn) c.890T>A (p.Ile297Asn) c.155T>A (p.Ile52Asn) n.347T>A n.501T>A c.-5T>A (n.-5T>A) n.222T>A | |
| 16 | g.21709910T>C | CA395062017 | OTOA | c.1127T>C (p.Ile376Thr) c.1003T>C (p.Leu335=) c.1169T>C (p.Ile390Thr) c.890T>C (p.Ile297Thr) c.155T>C (p.Ile52Thr) n.347T>C n.501T>C c.-5T>C (n.-5T>C) n.222T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709910T>G | CA395062019 | OTOA | c.1127T>G (p.Ile376Ser) c.1003T>G (p.Leu335Val) c.1169T>G (p.Ile390Ser) c.890T>G (p.Ile297Ser) c.155T>G (p.Ile52Ser) n.347T>G n.501T>G c.-5T>G (n.-5T>G) n.222T>G | |
| 16 | g.21709910T= | CA2212563328 | OTOA | c.1127T= (p.Ile376=) c.1003T= (p.Leu335=) c.1169T= (p.Ile390=) c.890T= (p.Ile297=) c.155T= (p.Ile52=) n.347T= n.501T= c.-5T= (n.-5T=) n.222T= | |
| 16 | g.21709911T>A | CA494117472 | OTOA | c.1128T>A (p.Ile376=) c.1004T>A (p.Leu335Ter) c.1170T>A (p.Ile390=) c.891T>A (p.Ile297=) c.156T>A (p.Ile52=) n.348T>A n.502T>A c.-4T>A (n.-4T>A) n.223T>A | |
| 16 | g.21709911T>C | CA494117474 | OTOA | c.1128T>C (p.Ile376=) c.1004T>C (p.Leu335Ser) c.1170T>C (p.Ile390=) c.891T>C (p.Ile297=) c.156T>C (p.Ile52=) n.348T>C n.502T>C c.-4T>C (n.-4T>C) n.223T>C | |
| 16 | g.21709911T>G | CA395062022 | OTOA | c.1128T>G (p.Ile376Met) c.1004T>G (p.Leu335Trp) c.1170T>G (p.Ile390Met) c.891T>G (p.Ile297Met) c.156T>G (p.Ile52Met) n.348T>G n.502T>G c.-4T>G (n.-4T>G) n.223T>G | |
| 16 | g.21709912G>A | CA395062025 | OTOA | c.1129G>A (p.Ala377Thr) c.1005G>A (p.Leu335=) c.1171G>A (p.Ala391Thr) c.892G>A (p.Ala298Thr) c.157G>A (p.Ala53Thr) n.349G>A n.503G>A c.-3G>A (n.-3G>A) n.224G>A | |
| 16 | g.21709912G>C | CA395062030 | OTOA | c.1129G>C (p.Ala377Pro) c.1005G>C (p.Leu335Phe) c.1171G>C (p.Ala391Pro) c.892G>C (p.Ala298Pro) c.157G>C (p.Ala53Pro) n.349G>C n.503G>C c.-3G>C (n.-3G>C) n.224G>C | |
| 16 | g.21709912G= | CA2212563333 | OTOA | c.1129G= (p.Ala377=) c.1005G= (p.Leu335=) c.1171G= (p.Ala391=) c.892G= (p.Ala298=) c.157G= (p.Ala53=) n.349G= n.503G= c.-3G= (n.-3G=) n.224G= | |
| 16 | g.21709912G>T | CA395062028 | OTOA | c.1129G>T (p.Ala377Ser) c.1005G>T (p.Leu335Phe) c.1171G>T (p.Ala391Ser) c.892G>T (p.Ala298Ser) c.157G>T (p.Ala53Ser) n.349G>T n.503G>T c.-3G>T (n.-3G>T) n.224G>T | dbSNP |
| 16 | g.21709913C>A | CA395062032 | OTOA | c.1130C>A (p.Ala377Asp) c.1006C>A (p.Pro336Thr) c.1172C>A (p.Ala391Asp) c.893C>A (p.Ala298Asp) c.158C>A (p.Ala53Asp) n.350C>A n.504C>A c.-2C>A (n.-2C>A) n.225C>A | |
| 16 | g.21709913C= | CA2212563336 | OTOA | c.1130C= (p.Ala377=) c.1006C= (p.Pro336=) c.1172C= (p.Ala391=) c.893C= (p.Ala298=) c.158C= (p.Ala53=) n.350C= n.504C= c.-2C= (n.-2C=) n.225C= | |
| 16 | g.21709913C>G | CA395062033 | OTOA | c.1130C>G (p.Ala377Gly) c.1006C>G (p.Pro336Ala) c.1172C>G (p.Ala391Gly) c.893C>G (p.Ala298Gly) c.158C>G (p.Ala53Gly) n.350C>G n.504C>G c.-2C>G (n.-2C>G) n.225C>G | |
| 16 | g.21709913C>T | CA7952556 | OTOA | c.1130C>T (p.Ala377Val) c.1006C>T (p.Pro336Ser) c.1172C>T (p.Ala391Val) c.893C>T (p.Ala298Val) c.158C>T (p.Ala53Val) n.350C>T n.504C>T c.-2C>T (n.-2C>T) n.225C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709916_21709925dup | CA2806211950 | OTOA | c.1133_1142dup (p.Gln381HisfsTer8) c.1009_1018dup (p.Arg340MetfsTer?) c.1175_1184dup (p.Gln395HisfsTer8) c.896_905dup (p.Gln302HisfsTer8) c.161_170dup (p.Gln57HisfsTer8) n.353_362dup n.507_516dup c.2_11dup (p.Gln4HisfsTer8) n.228_237dup | |
| 16 | g.21709914C>A | CA494117477 | OTOA | c.1131C>A (p.Ala377=) c.1007C>A (p.Pro336Gln) c.1173C>A (p.Ala391=) c.894C>A (p.Ala298=) c.159C>A (p.Ala53=) n.351C>A n.505C>A c.-1C>A (n.-1C>A) n.226C>A | |
| 16 | g.21709914C= | CA2212563339 | OTOA | c.1131C= (p.Ala377=) c.1007C= (p.Pro336=) c.1173C= (p.Ala391=) c.894C= (p.Ala298=) c.159C= (p.Ala53=) n.351C= n.505C= c.-1C= (n.-1C=) n.226C= | |
| 16 | g.21709914C>G | CA494117478 | OTOA | c.1131C>G (p.Ala377=) c.1007C>G (p.Pro336Arg) c.1173C>G (p.Ala391=) c.894C>G (p.Ala298=) c.159C>G (p.Ala53=) n.351C>G n.505C>G c.-1C>G (n.-1C>G) n.226C>G | |
| 16 | g.21709914C>T | CA494117479 | OTOA | c.1131C>T (p.Ala377=) c.1007C>T (p.Pro336Leu) c.1173C>T (p.Ala391=) c.894C>T (p.Ala298=) c.159C>T (p.Ala53=) n.351C>T n.505C>T c.-1C>T (n.-1C>T) n.226C>T | dbSNP gnomAD v2 |
| 16 | g.21709915A= | CA2212563342 | OTOA | c.1132A= (p.Met378=) c.1008A= (p.Pro336=) c.1174A= (p.Met392=) c.895A= (p.Met299=) c.160A= (p.Met54=) n.352A= n.506A= c.1A= (p.Met1=) n.227A= | |
| 16 | g.21709915A>C | CA395062038 | OTOA | c.1132A>C (p.Met378Leu) c.1008A>C (p.Pro336=) c.1174A>C (p.Met392Leu) c.895A>C (p.Met299Leu) c.160A>C (p.Met54Leu) n.352A>C n.506A>C c.1A>C (p.Met1Leu) n.227A>C | |
| 16 | g.21709915A>G | CA395062040 | OTOA | c.1132A>G (p.Met378Val) c.1008A>G (p.Pro336=) c.1174A>G (p.Met392Val) c.895A>G (p.Met299Val) c.160A>G (p.Met54Val) n.352A>G n.506A>G c.1A>G (p.Met1Val) n.227A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709915A>T | CA395062041 | OTOA | c.1132A>T (p.Met378Leu) c.1008A>T (p.Pro336=) c.1174A>T (p.Met392Leu) c.895A>T (p.Met299Leu) c.160A>T (p.Met54Leu) n.352A>T n.506A>T c.1A>T (p.Met1Leu) n.227A>T | |
| 16 | g.21709916T>A | CA395062049 | OTOA | c.1133T>A (p.Met378Lys) c.1009T>A (p.Trp337Arg) c.1175T>A (p.Met392Lys) c.896T>A (p.Met299Lys) c.161T>A (p.Met54Lys) n.353T>A n.507T>A c.2T>A (p.Met1Lys) n.228T>A | |
| 16 | g.21709916T>C | CA395062047 | OTOA | c.1133T>C (p.Met378Thr) c.1009T>C (p.Trp337Arg) c.1175T>C (p.Met392Thr) c.896T>C (p.Met299Thr) c.161T>C (p.Met54Thr) n.353T>C n.507T>C c.2T>C (p.Met1Thr) n.228T>C | gnomAD v4 |
| 16 | g.21709916T>G | CA395062044 | OTOA | c.1133T>G (p.Met378Arg) c.1009T>G (p.Trp337Gly) c.1175T>G (p.Met392Arg) c.896T>G (p.Met299Arg) c.161T>G (p.Met54Arg) n.353T>G n.507T>G c.2T>G (p.Met1Arg) n.228T>G | |
| 16 | g.21709917G>A | CA395062050 | OTOA | c.1134G>A (p.Met378Ile) c.1010G>A (p.Trp337Ter) c.1176G>A (p.Met392Ile) c.897G>A (p.Met299Ile) c.162G>A (p.Met54Ile) n.354G>A n.508G>A c.3G>A (p.Met1Ile) n.229G>A | COSMIC COSMIC COSMIC |
| 16 | g.21709917G>C | CA395062053 | OTOA | c.1134G>C (p.Met378Ile) c.1010G>C (p.Trp337Ser) c.1176G>C (p.Met392Ile) c.897G>C (p.Met299Ile) c.162G>C (p.Met54Ile) n.354G>C n.508G>C c.3G>C (p.Met1Ile) n.229G>C | |
| 16 | g.21709917G>T | CA395062054 | OTOA | c.1134G>T (p.Met378Ile) c.1010G>T (p.Trp337Leu) c.1176G>T (p.Met392Ile) c.897G>T (p.Met299Ile) c.162G>T (p.Met54Ile) n.354G>T n.508G>T c.3G>T (p.Met1Ile) n.229G>T | |
| 16 | g.21709918G>A | CA395062061 | OTOA | c.1135G>A (p.Glu379Lys) c.1011G>A (p.Trp337Ter) c.1177G>A (p.Glu393Lys) c.898G>A (p.Glu300Lys) c.163G>A (p.Glu55Lys) n.355G>A n.509G>A c.4G>A (p.Glu2Lys) n.230G>A | |
| 16 | g.21709918G>C | CA395062064 | OTOA | c.1135G>C (p.Glu379Gln) c.1011G>C (p.Trp337Cys) c.1177G>C (p.Glu393Gln) c.898G>C (p.Glu300Gln) c.163G>C (p.Glu55Gln) n.355G>C n.509G>C c.4G>C (p.Glu2Gln) n.230G>C | dbSNP |
| 16 | g.21709918G= | CA2212563346 | OTOA | c.1135G= (p.Glu379=) c.1011G= (p.Trp337=) c.1177G= (p.Glu393=) c.898G= (p.Glu300=) c.163G= (p.Glu55=) n.355G= n.509G= c.4G= (p.Glu2=) n.230G= | |
| 16 | g.21709918G>T | CA395062066 | OTOA | c.1135G>T (p.Glu379Ter) c.1011G>T (p.Trp337Cys) c.1177G>T (p.Glu393Ter) c.898G>T (p.Glu300Ter) c.163G>T (p.Glu55Ter) n.355G>T n.509G>T c.4G>T (p.Glu2Ter) n.230G>T | |
| 16 | g.21709919A>C | CA395062069 | OTOA | c.1136A>C (p.Glu379Ala) c.1012A>C (p.Arg338=) c.1178A>C (p.Glu393Ala) c.899A>C (p.Glu300Ala) c.164A>C (p.Glu55Ala) n.356A>C n.510A>C c.5A>C (p.Glu2Ala) n.231A>C | |
| 16 | g.21709919A>G | CA395062072 | OTOA | c.1136A>G (p.Glu379Gly) c.1012A>G (p.Arg338Gly) c.1178A>G (p.Glu393Gly) c.899A>G (p.Glu300Gly) c.164A>G (p.Glu55Gly) n.356A>G n.510A>G c.5A>G (p.Glu2Gly) n.231A>G | |
| 16 | g.21709919A>T | CA395062070 | OTOA | c.1136A>T (p.Glu379Val) c.1012A>T (p.Arg338Ter) c.1178A>T (p.Glu393Val) c.899A>T (p.Glu300Val) c.164A>T (p.Glu55Val) n.356A>T n.510A>T c.5A>T (p.Glu2Val) n.231A>T | |
| 16 | g.21709920G>A | CA7952557 | OTOA | c.1137G>A (p.Glu379=) c.1013G>A (p.Arg338Lys) c.1179G>A (p.Glu393=) c.900G>A (p.Glu300=) c.165G>A (p.Glu55=) n.357G>A n.511G>A c.6G>A (p.Glu2=) n.232G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709920G>C | CA395062076 | OTOA | c.1137G>C (p.Glu379Asp) c.1013G>C (p.Arg338Thr) c.1179G>C (p.Glu393Asp) c.900G>C (p.Glu300Asp) c.165G>C (p.Glu55Asp) n.357G>C n.511G>C c.6G>C (p.Glu2Asp) n.232G>C | |
| 16 | g.21709920G= | CA2212563349 | OTOA | c.1137G= (p.Glu379=) c.1013G= (p.Arg338=) c.1179G= (p.Glu393=) c.900G= (p.Glu300=) c.165G= (p.Glu55=) n.357G= n.511G= c.6G= (p.Glu2=) n.232G= | |
| 16 | g.21709920G>T | CA395062078 | OTOA | c.1137G>T (p.Glu379Asp) c.1013G>T (p.Arg338Ile) c.1179G>T (p.Glu393Asp) c.900G>T (p.Glu300Asp) c.165G>T (p.Glu55Asp) n.357G>T n.511G>T c.6G>T (p.Glu2Asp) n.232G>T | |
| 16 | g.21709921A= | CA2212563353 | OTOA | c.1138A= (p.Asn380=) c.1014A= (p.Arg338=) c.1180A= (p.Asn394=) c.901A= (p.Asn301=) c.166A= (p.Asn56=) n.358A= n.512A= c.7A= (p.Asn3=) n.233A= | |
| 16 | g.21709921A>C | CA395062081 | OTOA | c.1138A>C (p.Asn380His) c.1014A>C (p.Arg338Ser) c.1180A>C (p.Asn394His) c.901A>C (p.Asn301His) c.166A>C (p.Asn56His) n.358A>C n.512A>C c.7A>C (p.Asn3His) n.233A>C | |
| 16 | g.21709921A>G | CA7952558 | OTOA | c.1138A>G (p.Asn380Asp) c.1014A>G (p.Arg338=) c.1180A>G (p.Asn394Asp) c.901A>G (p.Asn301Asp) c.166A>G (p.Asn56Asp) n.358A>G n.512A>G c.7A>G (p.Asn3Asp) n.233A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709921A>T | CA395062084 | OTOA | c.1138A>T (p.Asn380Tyr) c.1014A>T (p.Arg338Ser) c.1180A>T (p.Asn394Tyr) c.901A>T (p.Asn301Tyr) c.166A>T (p.Asn56Tyr) n.358A>T n.512A>T c.7A>T (p.Asn3Tyr) n.233A>T | |
| 16 | g.21709922A= | CA2212563356 | OTOA | c.1139A= (p.Asn380=) c.1015A= (p.Thr339=) c.1181A= (p.Asn394=) c.902A= (p.Asn301=) c.167A= (p.Asn56=) n.359A= n.513A= c.8A= (p.Asn3=) n.234A= | |
| 16 | g.21709922A>C | CA395062086 | OTOA | c.1139A>C (p.Asn380Thr) c.1015A>C (p.Thr339Pro) c.1181A>C (p.Asn394Thr) c.902A>C (p.Asn301Thr) c.167A>C (p.Asn56Thr) n.359A>C n.513A>C c.8A>C (p.Asn3Thr) n.234A>C | |
| 16 | g.21709922A>G | CA395062087 | OTOA | c.1139A>G (p.Asn380Ser) c.1015A>G (p.Thr339Ala) c.1181A>G (p.Asn394Ser) c.902A>G (p.Asn301Ser) c.167A>G (p.Asn56Ser) n.359A>G n.513A>G c.8A>G (p.Asn3Ser) n.234A>G | dbSNP |
| 16 | g.21709922A>T | CA395062088 | OTOA | c.1139A>T (p.Asn380Ile) c.1015A>T (p.Thr339Ser) c.1181A>T (p.Asn394Ile) c.902A>T (p.Asn301Ile) c.167A>T (p.Asn56Ile) n.359A>T n.513A>T c.8A>T (p.Asn3Ile) n.234A>T | |
| 16 | g.21709923C>A | CA395062092 | OTOA | c.1140C>A (p.Asn380Lys) c.1016C>A (p.Thr339Asn) c.1182C>A (p.Asn394Lys) c.903C>A (p.Asn301Lys) c.168C>A (p.Asn56Lys) n.360C>A n.514C>A c.9C>A (p.Asn3Lys) n.235C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.21709923C= | CA2212563359 | OTOA | c.1140C= (p.Asn380=) c.1016C= (p.Thr339=) c.1182C= (p.Asn394=) c.903C= (p.Asn301=) c.168C= (p.Asn56=) n.360C= n.514C= c.9C= (p.Asn3=) n.235C= | |
| 16 | g.21709923C>G | CA395062094 | OTOA | c.1140C>G (p.Asn380Lys) c.1016C>G (p.Thr339Ser) c.1182C>G (p.Asn394Lys) c.903C>G (p.Asn301Lys) c.168C>G (p.Asn56Lys) n.360C>G n.514C>G c.9C>G (p.Asn3Lys) n.235C>G | |
| 16 | g.21709923C>T | CA279403717 | OTOA | c.1140C>T (p.Asn380=) c.1016C>T (p.Thr339Ile) c.1182C>T (p.Asn394=) c.903C>T (p.Asn301=) c.168C>T (p.Asn56=) n.360C>T n.514C>T c.9C>T (p.Asn3=) n.235C>T | dbSNP gnomAD v4 |
| 16 | g.21709924C>A | CA395062097 | OTOA | c.1141C>A (p.Gln381Lys) c.1017C>A (p.Thr339=) c.1183C>A (p.Gln395Lys) c.904C>A (p.Gln302Lys) c.169C>A (p.Gln57Lys) n.361C>A n.515C>A c.10C>A (p.Gln4Lys) n.236C>A | |
| 16 | g.21709924C= | CA2212563367 | OTOA | c.1141C= (p.Gln381=) c.1017C= (p.Thr339=) c.1183C= (p.Gln395=) c.904C= (p.Gln302=) c.169C= (p.Gln57=) n.361C= n.515C= c.10C= (p.Gln4=) n.236C= | |
| 16 | g.21709924C>G | CA183146 | OTOA | c.1141C>G (p.Gln381Glu) c.1017C>G (p.Thr339=) c.1183C>G (p.Gln395Glu) c.904C>G (p.Gln302Glu) c.169C>G (p.Gln57Glu) n.361C>G n.515C>G c.10C>G (p.Gln4Glu) n.236C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709924C>T | CA395062099 | OTOA | c.1141C>T (p.Gln381Ter) c.1017C>T (p.Thr339=) c.1183C>T (p.Gln395Ter) c.904C>T (p.Gln302Ter) c.169C>T (p.Gln57Ter) n.361C>T n.515C>T c.10C>T (p.Gln4Ter) n.236C>T | dbSNP |
| 16 | g.21709925A>C | CA395062103 | OTOA | c.1142A>C (p.Gln381Pro) c.1018A>C (p.Arg340=) c.1184A>C (p.Gln395Pro) c.905A>C (p.Gln302Pro) c.170A>C (p.Gln57Pro) n.362A>C n.516A>C c.11A>C (p.Gln4Pro) n.237A>C | |
| 16 | g.21709925A>G | CA395062104 | OTOA | c.1142A>G (p.Gln381Arg) c.1018A>G (p.Arg340Gly) c.1184A>G (p.Gln395Arg) c.905A>G (p.Gln302Arg) c.170A>G (p.Gln57Arg) n.362A>G n.516A>G c.11A>G (p.Gln4Arg) n.237A>G | |
| 16 | g.21709925A>T | CA395062106 | OTOA | c.1142A>T (p.Gln381Leu) c.1018A>T (p.Arg340Ter) c.1184A>T (p.Gln395Leu) c.905A>T (p.Gln302Leu) c.170A>T (p.Gln57Leu) n.362A>T n.516A>T c.11A>T (p.Gln4Leu) n.237A>T | |
| 16 | g.21709926G>A | CA494117493 | OTOA | c.1143G>A (p.Gln381=) c.1019G>A (p.Arg340Lys) c.1185G>A (p.Gln395=) c.906G>A (p.Gln302=) c.171G>A (p.Gln57=) n.363G>A n.517G>A c.12G>A (p.Gln4=) n.238G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.21709926G>C | CA395062109 | OTOA | c.1143G>C (p.Gln381His) c.1019G>C (p.Arg340Thr) c.1185G>C (p.Gln395His) c.906G>C (p.Gln302His) c.171G>C (p.Gln57His) n.363G>C n.517G>C c.12G>C (p.Gln4His) n.238G>C | gnomAD v4 |
| 16 | g.21709926G= | CA2212563378 | OTOA | c.1143G= (p.Gln381=) c.1019G= (p.Arg340=) c.1185G= (p.Gln395=) c.906G= (p.Gln302=) c.171G= (p.Gln57=) n.363G= n.517G= c.12G= (p.Gln4=) n.238G= | |
| 16 | g.21709926G>T | CA395062110 | OTOA | c.1143G>T (p.Gln381His) c.1019G>T (p.Arg340Ile) c.1185G>T (p.Gln395His) c.906G>T (p.Gln302His) c.171G>T (p.Gln57His) n.363G>T n.517G>T c.12G>T (p.Gln4His) n.238G>T | |
| 16 | g.21709927A= | CA2212563382 | OTOA | c.1144A= (p.Thr382=) c.1020A= (p.Arg340=) c.1186A= (p.Thr396=) c.907A= (p.Thr303=) c.172A= (p.Thr58=) n.364A= n.518A= c.13A= (p.Thr5=) n.239A= | |
| 16 | g.21709927A>C | CA395062113 | OTOA | c.1144A>C (p.Thr382Pro) c.1020A>C (p.Arg340Ser) c.1186A>C (p.Thr396Pro) c.907A>C (p.Thr303Pro) c.172A>C (p.Thr58Pro) n.364A>C n.518A>C c.13A>C (p.Thr5Pro) n.239A>C | |
| 16 | g.21709927A>G | CA395062116 | OTOA | c.1144A>G (p.Thr382Ala) c.1020A>G (p.Arg340=) c.1186A>G (p.Thr396Ala) c.907A>G (p.Thr303Ala) c.172A>G (p.Thr58Ala) n.364A>G n.518A>G c.13A>G (p.Thr5Ala) n.239A>G | dbSNP |
| 16 | g.21709927A>T | CA395062118 | OTOA | c.1144A>T (p.Thr382Ser) c.1020A>T (p.Arg340Ser) c.1186A>T (p.Thr396Ser) c.907A>T (p.Thr303Ser) c.172A>T (p.Thr58Ser) n.364A>T n.518A>T c.13A>T (p.Thr5Ser) n.239A>T | |
| 16 | g.21709928C>A | CA395062121 | OTOA | c.1145C>A (p.Thr382Asn) c.1021C>A (p.Pro341Thr) c.1187C>A (p.Thr396Asn) c.908C>A (p.Thr303Asn) c.173C>A (p.Thr58Asn) n.365C>A n.519C>A c.14C>A (p.Thr5Asn) n.240C>A | dbSNP gnomAD v4 |
| 16 | g.21709928C= | CA2212563385 | OTOA | c.1145C= (p.Thr382=) c.1021C= (p.Pro341=) c.1187C= (p.Thr396=) c.908C= (p.Thr303=) c.173C= (p.Thr58=) n.365C= n.519C= c.14C= (p.Thr5=) n.240C= | |
| 16 | g.21709928C>G | CA395062123 | OTOA | c.1145C>G (p.Thr382Ser) c.1021C>G (p.Pro341Ala) c.1187C>G (p.Thr396Ser) c.908C>G (p.Thr303Ser) c.173C>G (p.Thr58Ser) n.365C>G n.519C>G c.14C>G (p.Thr5Ser) n.240C>G | |
| 16 | g.21709928C>T | CA395062125 | OTOA | c.1145C>T (p.Thr382Ile) c.1021C>T (p.Pro341Ser) c.1187C>T (p.Thr396Ile) c.908C>T (p.Thr303Ile) c.173C>T (p.Thr58Ile) n.365C>T n.519C>T c.14C>T (p.Thr5Ile) n.240C>T | |
| 16 | g.21709929C>A | CA494117499 | OTOA | c.1146C>A (p.Thr382=) c.1022C>A (p.Pro341His) c.1188C>A (p.Thr396=) c.909C>A (p.Thr303=) c.174C>A (p.Thr58=) n.366C>A n.520C>A c.15C>A (p.Thr5=) n.241C>A | |
| 16 | g.21709929C>G | CA494117497 | OTOA | c.1146C>G (p.Thr382=) c.1022C>G (p.Pro341Arg) c.1188C>G (p.Thr396=) c.909C>G (p.Thr303=) c.174C>G (p.Thr58=) n.366C>G n.520C>G c.15C>G (p.Thr5=) n.241C>G | |
| 16 | g.21709929C>T | CA494117498 | OTOA | c.1146C>T (p.Thr382=) c.1022C>T (p.Pro341Leu) c.1188C>T (p.Thr396=) c.909C>T (p.Thr303=) c.174C>T (p.Thr58=) n.366C>T n.520C>T c.15C>T (p.Thr5=) n.241C>T | |
| 16 | g.21709930C>A | CA395062132 | OTOA | c.1147C>A (p.Leu383Ile) c.1023C>A (p.Pro341=) c.1189C>A (p.Leu397Ile) c.910C>A (p.Leu304Ile) c.175C>A (p.Leu59Ile) n.367C>A n.521C>A c.16C>A (p.Leu6Ile) n.242C>A | |
| 16 | g.21709930C>G | CA395062130 | OTOA | c.1147C>G (p.Leu383Val) c.1023C>G (p.Pro341=) c.1189C>G (p.Leu397Val) c.910C>G (p.Leu304Val) c.175C>G (p.Leu59Val) n.367C>G n.521C>G c.16C>G (p.Leu6Val) n.242C>G | |
| 16 | g.21709930C>T | CA395062127 | OTOA | c.1147C>T (p.Leu383Phe) c.1023C>T (p.Pro341=) c.1189C>T (p.Leu397Phe) c.910C>T (p.Leu304Phe) c.175C>T (p.Leu59Phe) n.367C>T n.521C>T c.16C>T (p.Leu6Phe) n.242C>T | |
| 16 | g.21709931T>A | CA395062134 | OTOA | c.1148T>A (p.Leu383His) c.1024T>A (p.Ser342Thr) c.1190T>A (p.Leu397His) c.911T>A (p.Leu304His) c.176T>A (p.Leu59His) n.368T>A n.522T>A c.17T>A (p.Leu6His) n.243T>A | |
| 16 | g.21709931T>C | CA395062135 | OTOA | c.1148T>C (p.Leu383Pro) c.1024T>C (p.Ser342Pro) c.1190T>C (p.Leu397Pro) c.911T>C (p.Leu304Pro) c.176T>C (p.Leu59Pro) n.368T>C n.522T>C c.17T>C (p.Leu6Pro) n.243T>C | |
| 16 | g.21709931T>G | CA395062137 | OTOA | c.1148T>G (p.Leu383Arg) c.1024T>G (p.Ser342Ala) c.1190T>G (p.Leu397Arg) c.911T>G (p.Leu304Arg) c.176T>G (p.Leu59Arg) n.368T>G n.522T>G c.17T>G (p.Leu6Arg) n.243T>G | |
| 16 | g.21709932C>A | CA494117503 | OTOA | c.1149C>A (p.Leu383=) c.1025C>A (p.Ser342Ter) c.1191C>A (p.Leu397=) c.912C>A (p.Leu304=) c.177C>A (p.Leu59=) n.369C>A n.523C>A c.18C>A (p.Leu6=) n.244C>A | gnomAD v4 |
| 16 | g.21709932C>G | CA494117504 | OTOA | c.1149C>G (p.Leu383=) c.1025C>G (p.Ser342Ter) c.1191C>G (p.Leu397=) c.912C>G (p.Leu304=) c.177C>G (p.Leu59=) n.369C>G n.523C>G c.18C>G (p.Leu6=) n.244C>G | gnomAD v4 |
| 16 | g.21709932C>T | CA494117505 | OTOA | c.1149C>T (p.Leu383=) c.1025C>T (p.Ser342Leu) c.1191C>T (p.Leu397=) c.912C>T (p.Leu304=) c.177C>T (p.Leu59=) n.369C>T n.523C>T c.18C>T (p.Leu6=) n.244C>T | |
| 16 | g.21709933A>C | CA395062140 | OTOA | c.1150A>C (p.Asn384His) c.1026A>C (p.Ser342=) c.1192A>C (p.Asn398His) c.913A>C (p.Asn305His) c.178A>C (p.Asn60His) n.370A>C n.524A>C c.19A>C (p.Asn7His) n.245A>C | |
| 16 | g.21709933A>G | CA395062142 | OTOA | c.1150A>G (p.Asn384Asp) c.1026A>G (p.Ser342=) c.1192A>G (p.Asn398Asp) c.913A>G (p.Asn305Asp) c.178A>G (p.Asn60Asp) n.370A>G n.524A>G c.19A>G (p.Asn7Asp) n.245A>G | |
| 16 | g.21709933A>T | CA395062143 | OTOA | c.1150A>T (p.Asn384Tyr) c.1026A>T (p.Ser342=) c.1192A>T (p.Asn398Tyr) c.913A>T (p.Asn305Tyr) c.178A>T (p.Asn60Tyr) n.370A>T n.524A>T c.19A>T (p.Asn7Tyr) n.245A>T | gnomAD v4 |
| 16 | g.21709934A= | CA2212563390 | OTOA | c.1151A= (p.Asn384=) c.1027A= (p.Met343=) c.1193A= (p.Asn398=) c.914A= (p.Asn305=) c.179A= (p.Asn60=) n.371A= n.525A= c.20A= (p.Asn7=) n.246A= | |
| 16 | g.21709934A>C | CA395062146 | OTOA | c.1151A>C (p.Asn384Thr) c.1027A>C (p.Met343Leu) c.1193A>C (p.Asn398Thr) c.914A>C (p.Asn305Thr) c.179A>C (p.Asn60Thr) n.371A>C n.525A>C c.20A>C (p.Asn7Thr) n.246A>C | |
| 16 | g.21709934A>G | CA7952559 | OTOA | c.1151A>G (p.Asn384Ser) c.1027A>G (p.Met343Val) c.1193A>G (p.Asn398Ser) c.914A>G (p.Asn305Ser) c.179A>G (p.Asn60Ser) n.371A>G n.525A>G c.20A>G (p.Asn7Ser) n.246A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709934A>T | CA395062150 | OTOA | c.1151A>T (p.Asn384Ile) c.1027A>T (p.Met343Leu) c.1193A>T (p.Asn398Ile) c.914A>T (p.Asn305Ile) c.179A>T (p.Asn60Ile) n.371A>T n.525A>T c.20A>T (p.Asn7Ile) n.246A>T | |
| 16 | g.21709935T>A | CA395062153 | OTOA | c.1152T>A (p.Asn384Lys) c.1028T>A (p.Met343Lys) c.1194T>A (p.Asn398Lys) c.915T>A (p.Asn305Lys) c.180T>A (p.Asn60Lys) n.372T>A n.526T>A c.21T>A (p.Asn7Lys) n.247T>A | |
| 16 | g.21709935T>C | CA7952560 | OTOA | c.1152T>C (p.Asn384=) c.1028T>C (p.Met343Thr) c.1194T>C (p.Asn398=) c.915T>C (p.Asn305=) c.180T>C (p.Asn60=) n.372T>C n.526T>C c.21T>C (p.Asn7=) n.247T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.21709935T>G | CA395062156 | OTOA | c.1152T>G (p.Asn384Lys) c.1028T>G (p.Met343Arg) c.1194T>G (p.Asn398Lys) c.915T>G (p.Asn305Lys) c.180T>G (p.Asn60Lys) n.372T>G n.526T>G c.21T>G (p.Asn7Lys) n.247T>G | |
| 16 | g.21709935T= | CA2212563394 | OTOA | c.1152T= (p.Asn384=) c.1028T= (p.Met343=) c.1194T= (p.Asn398=) c.915T= (p.Asn305=) c.180T= (p.Asn60=) n.372T= n.526T= c.21T= (p.Asn7=) n.247T= | |
| 16 | g.21709936G>A | CA395062163 | OTOA | c.1153G>A (p.Glu385Lys) c.1029G>A (p.Met343Ile) c.1195G>A (p.Glu399Lys) c.916G>A (p.Glu306Lys) c.181G>A (p.Glu61Lys) n.373G>A n.527G>A c.22G>A (p.Glu8Lys) n.248G>A | dbSNP |
| 16 | g.21709936G>C | CA395062161 | OTOA | c.1153G>C (p.Glu385Gln) c.1029G>C (p.Met343Ile) c.1195G>C (p.Glu399Gln) c.916G>C (p.Glu306Gln) c.181G>C (p.Glu61Gln) n.373G>C n.527G>C c.22G>C (p.Glu8Gln) n.248G>C | |
| 16 | g.21709936G= | CA2212563395 | OTOA | c.1153G= (p.Glu385=) c.1029G= (p.Met343=) c.1195G= (p.Glu399=) c.916G= (p.Glu306=) c.181G= (p.Glu61=) n.373G= n.527G= c.22G= (p.Glu8=) n.248G= | |
| 16 | g.21709936G>T | CA395062159 | OTOA | c.1153G>T (p.Glu385Ter) c.1029G>T (p.Met343Ile) c.1195G>T (p.Glu399Ter) c.916G>T (p.Glu306Ter) c.181G>T (p.Glu61Ter) n.373G>T n.527G>T c.22G>T (p.Glu8Ter) n.248G>T | gnomAD v4 |
| 16 | g.21709936_21709939dup | CA2632220216 | OTOA | c.1153_1156dup (p.Thr386ArgfsTer?) c.1029_1032dup (p.Pro345GlufsTer?) c.1195_1198dup (p.Thr400ArgfsTer?) c.916_919dup (p.Thr307ArgfsTer?) c.181_184dup (p.Thr62ArgfsTer?) n.373_376dup n.527_530dup c.22_25dup (p.Thr9ArgfsTer?) n.248_251dup | gnomAD v4 |
| 16 | g.21709937A= | CA2212563397 | OTOA | c.1154A= (p.Glu385=) c.1030A= (p.Arg344=) c.1196A= (p.Glu399=) c.917A= (p.Glu306=) c.182A= (p.Glu61=) n.374A= n.528A= c.23A= (p.Glu8=) n.249A= | |
| 16 | g.21709937A>C | CA395062165 | OTOA | c.1154A>C (p.Glu385Ala) c.1030A>C (p.Arg344=) c.1196A>C (p.Glu399Ala) c.917A>C (p.Glu306Ala) c.182A>C (p.Glu61Ala) n.374A>C n.528A>C c.23A>C (p.Glu8Ala) n.249A>C | |
| 16 | g.21709937A>G | CA395062169 | OTOA | c.1154A>G (p.Glu385Gly) c.1030A>G (p.Arg344Gly) c.1196A>G (p.Glu399Gly) c.917A>G (p.Glu306Gly) c.182A>G (p.Glu61Gly) n.374A>G n.528A>G c.23A>G (p.Glu8Gly) n.249A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.21709937A>T | CA395062167 | OTOA | c.1154A>T (p.Glu385Val) c.1030A>T (p.Arg344Ter) c.1196A>T (p.Glu399Val) c.917A>T (p.Glu306Val) c.182A>T (p.Glu61Val) n.374A>T n.528A>T c.23A>T (p.Glu8Val) n.249A>T | |
| 16 | g.21709938G>A | CA494117507 | OTOA | c.1155G>A (p.Glu385=) c.1031G>A (p.Arg344Lys) c.1197G>A (p.Glu399=) c.918G>A (p.Glu306=) c.183G>A (p.Glu61=) n.375G>A n.529G>A c.24G>A (p.Glu8=) n.250G>A | |
| 16 | g.21709938G>C | CA395062171 | OTOA | c.1155G>C (p.Glu385Asp) c.1031G>C (p.Arg344Thr) c.1197G>C (p.Glu399Asp) c.918G>C (p.Glu306Asp) c.183G>C (p.Glu61Asp) n.375G>C n.529G>C c.24G>C (p.Glu8Asp) n.250G>C | |
| 16 | g.21709938G>T | CA395062173 | OTOA | c.1155G>T (p.Glu385Asp) c.1031G>T (p.Arg344Ile) c.1197G>T (p.Glu399Asp) c.918G>T (p.Glu306Asp) c.183G>T (p.Glu61Asp) n.375G>T n.529G>T c.24G>T (p.Glu8Asp) n.250G>T | |
| 16 | g.21709939A>C | CA395062175 | OTOA | c.1156A>C (p.Thr386Pro) c.1032A>C (p.Arg344Ser) c.1198A>C (p.Thr400Pro) c.919A>C (p.Thr307Pro) c.184A>C (p.Thr62Pro) n.376A>C n.530A>C c.25A>C (p.Thr9Pro) n.251A>C | |
| 16 | g.21709939A>G | CA395062176 | OTOA | c.1156A>G (p.Thr386Ala) c.1032A>G (p.Arg344=) c.1198A>G (p.Thr400Ala) c.919A>G (p.Thr307Ala) c.184A>G (p.Thr62Ala) n.376A>G n.530A>G c.25A>G (p.Thr9Ala) n.251A>G | |
| 16 | g.21709939A>T | CA395062177 | OTOA | c.1156A>T (p.Thr386Ser) c.1032A>T (p.Arg344Ser) c.1198A>T (p.Thr400Ser) c.919A>T (p.Thr307Ser) c.184A>T (p.Thr62Ser) n.376A>T n.530A>T c.25A>T (p.Thr9Ser) n.251A>T | |
| 16 | g.21709940C>A | CA395062181 | OTOA | c.1157C>A (p.Thr386Asn) c.1033C>A (p.Pro345Thr) c.1199C>A (p.Thr400Asn) c.920C>A (p.Thr307Asn) c.185C>A (p.Thr62Asn) n.377C>A n.531C>A c.26C>A (p.Thr9Asn) n.252C>A | |
| 16 | g.21709940C>G | CA395062182 | OTOA | c.1157C>G (p.Thr386Ser) c.1033C>G (p.Pro345Ala) c.1199C>G (p.Thr400Ser) c.920C>G (p.Thr307Ser) c.185C>G (p.Thr62Ser) n.377C>G n.531C>G c.26C>G (p.Thr9Ser) n.252C>G | |
| 16 | g.21709940C>T | CA395062184 | OTOA | c.1157C>T (p.Thr386Ile) c.1033C>T (p.Pro345Ser) c.1199C>T (p.Thr400Ile) c.920C>T (p.Thr307Ile) c.185C>T (p.Thr62Ile) n.377C>T n.531C>T c.26C>T (p.Thr9Ile) n.252C>T | ClinVar dbSNP |
| 16 | g.21709941C>A | CA494117511 | OTOA | c.1158C>A (p.Thr386=) c.1034C>A (p.Pro345His) c.1200C>A (p.Thr400=) c.921C>A (p.Thr307=) c.186C>A (p.Thr62=) n.378C>A n.532C>A c.27C>A (p.Thr9=) n.253C>A | |
| 16 | g.21709941C>G | CA494117512 | OTOA | c.1158C>G (p.Thr386=) c.1034C>G (p.Pro345Arg) c.1200C>G (p.Thr400=) c.921C>G (p.Thr307=) c.186C>G (p.Thr62=) n.378C>G n.532C>G c.27C>G (p.Thr9=) n.253C>G | gnomAD v4 |
| 16 | g.21709941C>T | CA494117513 | OTOA | c.1158C>T (p.Thr386=) c.1034C>T (p.Pro345Leu) c.1200C>T (p.Thr400=) c.921C>T (p.Thr307=) c.186C>T (p.Thr62=) n.378C>T n.532C>T c.27C>T (p.Thr9=) n.253C>T | ClinVar gnomAD v4 |
| 16 | g.21709942C>A | CA395062187 | OTOA | c.1159C>A (p.Leu387Met) c.1035C>A (p.Pro345=) c.1201C>A (p.Leu401Met) c.922C>A (p.Leu308Met) c.187C>A (p.Leu63Met) n.379C>A n.533C>A c.28C>A (p.Leu10Met) n.254C>A | |
| 16 | g.21709942C>G | CA395062189 | OTOA | c.1159C>G (p.Leu387Val) c.1035C>G (p.Pro345=) c.1201C>G (p.Leu401Val) c.922C>G (p.Leu308Val) c.187C>G (p.Leu63Val) n.379C>G n.533C>G c.28C>G (p.Leu10Val) n.254C>G | gnomAD v4 |
| 16 | g.21709942C>T | CA494117514 | OTOA | c.1159C>T (p.Leu387=) c.1035C>T (p.Pro345=) c.1201C>T (p.Leu401=) c.922C>T (p.Leu308=) c.187C>T (p.Leu63=) n.379C>T n.533C>T c.28C>T (p.Leu10=) n.254C>T | |
| 16 | g.21709943T>A | CA395062192 | OTOA | c.1160T>A (p.Leu387Gln) c.1036T>A (p.Trp346Arg) c.1202T>A (p.Leu401Gln) c.923T>A (p.Leu308Gln) c.188T>A (p.Leu63Gln) n.380T>A n.534T>A c.29T>A (p.Leu10Gln) n.255T>A | |
| 16 | g.21709943T>C | CA395062194 | OTOA | c.1160T>C (p.Leu387Pro) c.1036T>C (p.Trp346Arg) c.1202T>C (p.Leu401Pro) c.923T>C (p.Leu308Pro) c.188T>C (p.Leu63Pro) n.380T>C n.534T>C c.29T>C (p.Leu10Pro) n.255T>C | ClinVar |
| 16 | g.21709943T>G | CA395062196 | OTOA | c.1160T>G (p.Leu387Arg) c.1036T>G (p.Trp346Gly) c.1202T>G (p.Leu401Arg) c.923T>G (p.Leu308Arg) c.188T>G (p.Leu63Arg) n.380T>G n.534T>G c.29T>G (p.Leu10Arg) n.255T>G | |
| 16 | g.21709944G>A | CA7952561 | OTOA | c.1161G>A (p.Leu387=) c.1037G>A (p.Trp346Ter) c.1203G>A (p.Leu401=) c.924G>A (p.Leu308=) c.189G>A (p.Leu63=) n.381G>A n.535G>A c.30G>A (p.Leu10=) n.256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21709944G>C | CA494117515 | OTOA | c.1161G>C (p.Leu387=) c.1037G>C (p.Trp346Ser) c.1203G>C (p.Leu401=) c.924G>C (p.Leu308=) c.189G>C (p.Leu63=) n.381G>C n.535G>C c.30G>C (p.Leu10=) n.256G>C | |
| 16 | g.21709944G= | CA2212563400 | OTOA | c.1161G= (p.Leu387=) c.1037G= (p.Trp346=) c.1203G= (p.Leu401=) c.924G= (p.Leu308=) c.189G= (p.Leu63=) n.381G= n.535G= c.30G= (p.Leu10=) n.256G= | |
| 16 | g.21709944G>T | CA494117516 | OTOA | c.1161G>T (p.Leu387=) c.1037G>T (p.Trp346Leu) c.1203G>T (p.Leu401=) c.924G>T (p.Leu308=) c.189G>T (p.Leu63=) n.381G>T n.535G>T c.30G>T (p.Leu10=) n.256G>T | |
| 16 | g.21709945G>A | CA395062201 | OTOA | c.1162G>A (p.Gly388Ser) c.1038G>A (p.Trp346Ter) c.1204G>A (p.Gly402Ser) c.925G>A (p.Gly309Ser) c.190G>A (p.Gly64Ser) n.382G>A n.536G>A c.31G>A (p.Gly11Ser) n.257G>A | |
| 16 | g.21709945G>C | CA395062202 | OTOA | c.1162G>C (p.Gly388Arg) c.1038G>C (p.Trp346Cys) c.1204G>C (p.Gly402Arg) c.925G>C (p.Gly309Arg) c.190G>C (p.Gly64Arg) n.382G>C n.536G>C c.31G>C (p.Gly11Arg) n.257G>C | |
| 16 | g.21709945G>T | CA395062204 | OTOA | c.1162G>T (p.Gly388Cys) c.1038G>T (p.Trp346Cys) c.1204G>T (p.Gly402Cys) c.925G>T (p.Gly309Cys) c.190G>T (p.Gly64Cys) n.382G>T n.536G>T c.31G>T (p.Gly11Cys) n.257G>T | |
| 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 |