| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230710612T>A | CA345207371 | AGT | c.212A>T (p.Asp71Val) n.723A>T c.239A>T (p.Asp80Val) | gnomAD v4 |
| 1 | g.230710612T>C | CA345207372 | AGT | c.212A>G (p.Asp71Gly) n.723A>G c.239A>G (p.Asp80Gly) | |
| 1 | g.230710612T>G | CA345207373 | AGT | c.212A>C (p.Asp71Ala) n.723A>C c.239A>C (p.Asp80Ala) | |
| 1 | g.230710613C>A | CA345207375 | AGT | c.211G>T (p.Asp71Tyr) n.722G>T c.238G>T (p.Asp80Tyr) | |
| 1 | g.230710613C>G | CA345207377 | AGT | c.211G>C (p.Asp71His) n.722G>C c.238G>C (p.Asp80His) | |
| 1 | g.230710613C>T | CA345207379 | AGT | c.211G>A (p.Asp71Asn) n.722G>A c.238G>A (p.Asp80Asn) | |
| 1 | g.230710614C>A | CA424036667 | AGT | c.210G>T (p.Val70=) n.721G>T c.237G>T (p.Val79=) | |
| 1 | g.230710614C>G | CA424036668 | AGT | c.210G>C (p.Val70=) n.721G>C c.237G>C (p.Val79=) | |
| 1 | g.230710614C>T | CA424036669 | AGT | c.210G>A (p.Val70=) n.721G>A c.237G>A (p.Val79=) | COSMIC |
| 1 | g.230710615A>C | CA345207380 | AGT | c.209T>G (p.Val70Gly) n.720T>G c.236T>G (p.Val79Gly) | |
| 1 | g.230710615A>G | CA345207382 | AGT | c.209T>C (p.Val70Ala) n.720T>C c.236T>C (p.Val79Ala) | |
| 1 | g.230710615A>T | CA345207384 | AGT | c.209T>A (p.Val70Glu) n.720T>A c.236T>A (p.Val79Glu) | |
| 1 | g.230710616C>A | CA345207388 | AGT | c.208G>T (p.Val70Leu) n.719G>T c.235G>T (p.Val79Leu) | |
| 1 | g.230710616C>G | CA345207386 | AGT | c.208G>C (p.Val70Leu) n.719G>C c.235G>C (p.Val79Leu) | |
| 1 | g.230710616C>T | CA345207387 | AGT | c.208G>A (p.Val70Met) n.719G>A c.235G>A (p.Val79Met) | |
| 1 | g.230710617A>C | CA424036676 | AGT | c.207T>G (p.Pro69=) n.718T>G c.234T>G (p.Pro78=) | |
| 1 | g.230710617A>G | CA424036677 | AGT | c.207T>C (p.Pro69=) n.718T>C c.234T>C (p.Pro78=) | |
| 1 | g.230710617A>T | CA424036678 | AGT | c.207T>A (p.Pro69=) n.718T>A c.234T>A (p.Pro78=) | |
| 1 | g.230710618G>A | CA345207391 | AGT | c.206C>T (p.Pro69Leu) n.717C>T c.233C>T (p.Pro78Leu) | gnomAD v4 |
| 1 | g.230710618G>C | CA345207394 | AGT | c.206C>G (p.Pro69Arg) n.717C>G c.233C>G (p.Pro78Arg) | |
| 1 | g.230710618G= | CA1226658591 | AGT | c.206C= (p.Pro69=) n.717C= c.233C= (p.Pro78=) | |
| 1 | g.230710618G>T | CA345207393 | AGT | c.206C>A (p.Pro69His) n.717C>A c.233C>A (p.Pro78His) | dbSNP |
| 1 | g.230710619G>A | CA1448351 | AGT | c.205C>T (p.Pro69Ser) n.716C>T c.232C>T (p.Pro78Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710619G>C | CA345207397 | AGT | c.205C>G (p.Pro69Ala) n.716C>G c.232C>G (p.Pro78Ala) | |
| 1 | g.230710619G= | CA1226658598 | AGT | c.205C= (p.Pro69=) n.716C= c.232C= (p.Pro78=) | |
| 1 | g.230710619G>T | CA345207399 | AGT | c.205C>A (p.Pro69Thr) n.716C>A c.232C>A (p.Pro78Thr) | |
| 1 | g.230710620G>A | CA38872113 | AGT | c.204C>T (p.Ser68=) n.715C>T c.231C>T (p.Ser77=) | dbSNP COSMIC |
| 1 | g.230710620G>C | CA424036685 | AGT | c.204C>G (p.Ser68=) n.715C>G c.231C>G (p.Ser77=) | |
| 1 | g.230710620G= | CA1226658603 | AGT | c.204C= (p.Ser68=) n.715C= c.231C= (p.Ser77=) | |
| 1 | g.230710620G>T | CA424036686 | AGT | c.204C>A (p.Ser68=) n.715C>A c.231C>A (p.Ser77=) | gnomAD v4 |
| 1 | g.230710621G>A | CA1448352 | AGT | c.203C>T (p.Ser68Phe) n.714C>T c.230C>T (p.Ser77Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710621G>C | CA345207403 | AGT | c.203C>G (p.Ser68Cys) n.714C>G c.230C>G (p.Ser77Cys) | ClinVar |
| 1 | g.230710621G= | CA1226658607 | AGT | c.203C= (p.Ser68=) n.714C= c.230C= (p.Ser77=) | |
| 1 | g.230710621G>T | CA345207404 | AGT | c.203C>A (p.Ser68Tyr) n.714C>A c.230C>A (p.Ser77Tyr) | gnomAD v4 |
| 1 | g.230710622A= | CA1226658610 | AGT | c.202T= (p.Ser68=) n.713T= c.229T= (p.Ser77=) | |
| 1 | g.230710622A>C | CA345207405 | AGT | c.202T>G (p.Ser68Ala) n.713T>G c.229T>G (p.Ser77Ala) | |
| 1 | g.230710622A>G | CA345207406 | AGT | c.202T>C (p.Ser68Pro) n.713T>C c.229T>C (p.Ser77Pro) | |
| 1 | g.230710622A>T | CA38872131 | AGT | c.202T>A (p.Ser68Thr) n.713T>A c.229T>A (p.Ser77Thr) | dbSNP gnomAD v4 |
| 1 | g.230710623T>A | CA424036687 | AGT | c.201A>T (p.Thr67=) n.712A>T c.228A>T (p.Thr76=) | |
| 1 | g.230710623T>C | CA424036688 | AGT | c.201A>G (p.Thr67=) n.712A>G c.228A>G (p.Thr76=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710623T>G | CA424036689 | AGT | c.201A>C (p.Thr67=) n.712A>C c.228A>C (p.Thr76=) | |
| 1 | g.230710623T= | CA1226658612 | AGT | c.201A= (p.Thr67=) n.712A= c.228A= (p.Thr76=) | |
| 1 | g.230710624G>A | CA345207407 | AGT | c.200C>T (p.Thr67Ile) n.711C>T c.227C>T (p.Thr76Ile) | dbSNP |
| 1 | g.230710624G>C | CA345207408 | AGT | c.200C>G (p.Thr67Arg) n.711C>G c.227C>G (p.Thr76Arg) | |
| 1 | g.230710624G= | CA1226658618 | AGT | c.200C= (p.Thr67=) n.711C= c.227C= (p.Thr76=) | |
| 1 | g.230710624G>T | CA345207409 | AGT | c.200C>A (p.Thr67Lys) n.711C>A c.227C>A (p.Thr76Lys) | |
| 1 | g.230710625T>A | CA345207410 | AGT | c.199A>T (p.Thr67Ser) n.710A>T c.226A>T (p.Thr76Ser) | |
| 1 | g.230710625T>C | CA1448353 | AGT | c.199A>G (p.Thr67Ala) n.710A>G c.226A>G (p.Thr76Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230710625T>G | CA345207411 | AGT | c.199A>C (p.Thr67Pro) n.710A>C c.226A>C (p.Thr76Pro) | |
| 1 | g.230710625T= | CA1226658623 | AGT | c.199A= (p.Thr67=) n.710A= c.226A= (p.Thr76=) | |
| 1 | g.230710626C>A | CA345207412 | AGT | c.198G>T (p.Lys66Asn) n.709G>T c.225G>T (p.Lys75Asn) | |
| 1 | g.230710626C>G | CA345207413 | AGT | c.198G>C (p.Lys66Asn) n.709G>C c.225G>C (p.Lys75Asn) | |
| 1 | g.230710626C>T | CA424036696 | AGT | c.198G>A (p.Lys66=) n.709G>A c.225G>A (p.Lys75=) | |
| 1 | g.230710627T>A | CA345207414 | AGT | c.197A>T (p.Lys66Met) n.708A>T c.224A>T (p.Lys75Met) | |
| 1 | g.230710627T>C | CA345207415 | AGT | c.197A>G (p.Lys66Arg) n.708A>G c.224A>G (p.Lys75Arg) | |
| 1 | g.230710627T>G | CA345207416 | AGT | c.197A>C (p.Lys66Thr) n.708A>C c.224A>C (p.Lys75Thr) | |
| 1 | g.230710628T>A | CA345207417 | AGT | c.196A>T (p.Lys66Ter) n.707A>T c.223A>T (p.Lys75Ter) | |
| 1 | g.230710628T>C | CA345207418 | AGT | c.196A>G (p.Lys66Glu) n.707A>G c.223A>G (p.Lys75Glu) | |
| 1 | g.230710628T>G | CA345207419 | AGT | c.196A>C (p.Lys66Gln) n.707A>C c.223A>C (p.Lys75Gln) | |
| 1 | g.230710629G>A | CA424036703 | AGT | c.195C>T (p.Ala65=) n.706C>T c.222C>T (p.Ala74=) | |
| 1 | g.230710629G>C | CA424036705 | AGT | c.195C>G (p.Ala65=) n.706C>G c.222C>G (p.Ala74=) | |
| 1 | g.230710629G>T | CA424036706 | AGT | c.195C>A (p.Ala65=) n.706C>A c.222C>A (p.Ala74=) | |
| 1 | g.230710630G>A | CA38872146 | AGT | c.194C>T (p.Ala65Val) n.705C>T c.221C>T (p.Ala74Val) | dbSNP COSMIC |
| 1 | g.230710630G>C | CA345207420 | AGT | c.194C>G (p.Ala65Gly) n.705C>G c.221C>G (p.Ala74Gly) | |
| 1 | g.230710630G= | CA1143491785 | AGT | c.194C= (p.Ala65=) n.705C= c.221C= (p.Ala74=) | |
| 1 | g.230710630G>T | CA345207421 | AGT | c.194C>A (p.Ala65Asp) n.705C>A c.221C>A (p.Ala74Asp) | |
| 1 | g.230710631C>A | CA345207423 | AGT | c.193G>T (p.Ala65Ser) n.704G>T c.220G>T (p.Ala74Ser) | gnomAD v4 |
| 1 | g.230710631C= | CA1141823366 | AGT | c.193G= (p.Ala65=) n.704G= c.220G= (p.Ala74=) | |
| 1 | g.230710631C>G | CA1448354 | AGT | c.193G>C (p.Ala65Pro) n.704G>C c.220G>C (p.Ala74Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710631C>T | CA345207422 | AGT | c.193G>A (p.Ala65Thr) n.704G>A c.220G>A (p.Ala74Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710632C>A | CA345207425 | AGT | c.192G>T (p.Gln64His) n.703G>T c.219G>T (p.Gln73His) | |
| 1 | g.230710632C>G | CA345207424 | AGT | c.192G>C (p.Gln64His) n.703G>C c.219G>C (p.Gln73His) | |
| 1 | g.230710632C>T | CA424036709 | AGT | c.192G>A (p.Gln64=) n.703G>A c.219G>A (p.Gln73=) | |
| 1 | g.230710633T>A | CA345207426 | AGT | c.191A>T (p.Gln64Leu) n.702A>T c.218A>T (p.Gln73Leu) | |
| 1 | g.230710633T>C | CA345207427 | AGT | c.191A>G (p.Gln64Arg) n.702A>G c.218A>G (p.Gln73Arg) | |
| 1 | g.230710633T>G | CA345207428 | AGT | c.191A>C (p.Gln64Pro) n.702A>C c.218A>C (p.Gln73Pro) | |
| 1 | g.230710634G>A | CA1448355 | AGT | c.190C>T (p.Gln64Ter) n.701C>T c.217C>T (p.Gln73Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710634G>C | CA345207429 | AGT | c.190C>G (p.Gln64Glu) n.701C>G c.217C>G (p.Gln73Glu) | |
| 1 | g.230710634G= | CA1226658636 | AGT | c.190C= (p.Gln64=) n.701C= c.217C= (p.Gln73=) | |
| 1 | g.230710634G>T | CA345207430 | AGT | c.190C>A (p.Gln64Lys) n.701C>A c.217C>A (p.Gln73Lys) | |
| 1 | g.230710635A>C | CA345207431 | AGT | c.189T>G (p.Ile63Met) n.700T>G c.216T>G (p.Ile72Met) | |
| 1 | g.230710635A>G | CA424036713 | AGT | c.189T>C (p.Ile63=) n.700T>C c.216T>C (p.Ile72=) | |
| 1 | g.230710635A>T | CA424036715 | AGT | c.189T>A (p.Ile63=) n.700T>A c.216T>A (p.Ile72=) | |
| 1 | g.230710636A>C | CA345207432 | AGT | c.188T>G (p.Ile63Ser) n.699T>G c.215T>G (p.Ile72Ser) | |
| 1 | g.230710636A>G | CA345207433 | AGT | c.188T>C (p.Ile63Thr) n.699T>C c.215T>C (p.Ile72Thr) | gnomAD v4 |
| 1 | g.230710636A>T | CA345207434 | AGT | c.188T>A (p.Ile63Asn) n.699T>A c.215T>A (p.Ile72Asn) | |
| 1 | g.230710637T>A | CA345207435 | AGT | c.187A>T (p.Ile63Phe) n.698A>T c.214A>T (p.Ile72Phe) | |
| 1 | g.230710637T>C | CA345207436 | AGT | c.187A>G (p.Ile63Val) n.698A>G c.214A>G (p.Ile72Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710637T>G | CA345207437 | AGT | c.187A>C (p.Ile63Leu) n.698A>C c.214A>C (p.Ile72Leu) | |
| 1 | g.230710637T= | CA1226658637 | AGT | c.187A= (p.Ile63=) n.698A= c.214A= (p.Ile72=) | |
| 1 | g.230710638T>A | CA424036718 | AGT | c.186A>T (p.Pro62=) n.697A>T c.213A>T (p.Pro71=) | |
| 1 | g.230710638T>C | CA424036720 | AGT | c.186A>G (p.Pro62=) n.697A>G c.213A>G (p.Pro71=) | dbSNP |
| 1 | g.230710638T>G | CA424036722 | AGT | c.186A>C (p.Pro62=) n.697A>C c.213A>C (p.Pro71=) | |
| 1 | g.230710639G>A | CA1448356 | AGT | c.185C>T (p.Pro62Leu) n.696C>T c.212C>T (p.Pro71Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710639G>C | CA345207439 | AGT | c.185C>G (p.Pro62Arg) n.696C>G c.212C>G (p.Pro71Arg) | |
| 1 | g.230710639G= | CA1141289042 | AGT | c.185C= (p.Pro62=) n.696C= c.212C= (p.Pro71=) | |
| 1 | g.230710639G>T | CA345207438 | AGT | c.185C>A (p.Pro62Gln) n.696C>A c.212C>A (p.Pro71Gln) | |
| 1 | g.230710640G>A | CA345207440 | AGT | c.184C>T (p.Pro62Ser) n.695C>T c.211C>T (p.Pro71Ser) | |
| 1 | g.230710640G>C | CA345207441 | AGT | c.184C>G (p.Pro62Ala) n.695C>G c.211C>G (p.Pro71Ala) | |
| 1 | g.230710640G>T | CA345207442 | AGT | c.184C>A (p.Pro62Thr) n.695C>A c.211C>A (p.Pro71Thr) | COSMIC |
| 1 | g.230710641A>C | CA424036725 | AGT | c.183T>G (p.Ala61=) n.694T>G c.210T>G (p.Ala70=) | |
| 1 | g.230710641A>G | CA424036726 | AGT | c.183T>C (p.Ala61=) n.694T>C c.210T>C (p.Ala70=) | |
| 1 | g.230710641A>T | CA424036727 | AGT | c.183T>A (p.Ala61=) n.694T>A c.210T>A (p.Ala70=) | gnomAD v4 |
| 1 | g.230710642G>A | CA345207443 | AGT | c.182C>T (p.Ala61Val) n.693C>T c.209C>T (p.Ala70Val) | gnomAD v4 |
| 1 | g.230710642G>C | CA345207444 | AGT | c.182C>G (p.Ala61Gly) n.693C>G c.209C>G (p.Ala70Gly) | |
| 1 | g.230710642G>T | CA345207445 | AGT | c.182C>A (p.Ala61Asp) n.693C>A c.209C>A (p.Ala70Asp) | COSMIC |
| 1 | g.230710643C>A | CA345207446 | AGT | c.181G>T (p.Ala61Ser) n.692G>T c.208G>T (p.Ala70Ser) | |
| 1 | g.230710643C= | CA1146203446 | AGT | c.181G= (p.Ala61=) n.692G= c.208G= (p.Ala70=) | |
| 1 | g.230710643C>G | CA345207447 | AGT | c.181G>C (p.Ala61Pro) n.692G>C c.208G>C (p.Ala70Pro) | |
| 1 | g.230710643C>T | CA38872188 | AGT | c.181G>A (p.Ala61Thr) n.692G>A c.208G>A (p.Ala70Thr) | dbSNP gnomAD v4 |
| 1 | g.230710644A= | CA1226658641 | AGT | c.180T= (p.Pro60=) n.691T= c.207T= (p.Pro69=) | |
| 1 | g.230710644A>C | CA424036731 | AGT | c.180T>G (p.Pro60=) n.691T>G c.207T>G (p.Pro69=) | gnomAD v4 |
| 1 | g.230710644A>G | CA424036730 | AGT | c.180T>C (p.Pro60=) n.691T>C c.207T>C (p.Pro69=) | dbSNP |
| 1 | g.230710644A>T | CA424036729 | AGT | c.180T>A (p.Pro60=) n.691T>A c.207T>A (p.Pro69=) | |
| 1 | g.230710645G>A | CA1448357 | AGT | c.179C>T (p.Pro60Leu) n.690C>T c.206C>T (p.Pro69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710645G>C | CA345207448 | AGT | c.179C>G (p.Pro60Arg) n.690C>G c.206C>G (p.Pro69Arg) | |
| 1 | g.230710645G= | CA1147552511 | AGT | c.179C= (p.Pro60=) n.690C= c.206C= (p.Pro69=) | |
| 1 | g.230710645G>T | CA345207449 | AGT | c.179C>A (p.Pro60His) n.690C>A c.206C>A (p.Pro69His) | |
| 1 | g.230710646G>A | CA345207451 | AGT | c.178C>T (p.Pro60Ser) n.689C>T c.205C>T (p.Pro69Ser) | dbSNP gnomAD v4 |
| 1 | g.230710646G>C | CA345207452 | AGT | c.178C>G (p.Pro60Ala) n.689C>G c.205C>G (p.Pro69Ala) | |
| 1 | g.230710646G= | CA1226658647 | AGT | c.178C= (p.Pro60=) n.689C= c.205C= (p.Pro69=) | |
| 1 | g.230710646G>T | CA345207450 | AGT | c.178C>A (p.Pro60Thr) n.689C>A c.205C>A (p.Pro69Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710647T>A | CA424036732 | AGT | c.177A>T (p.Ile59=) n.688A>T c.204A>T (p.Ile68=) | |
| 1 | g.230710647T>C | CA345207453 | AGT | c.177A>G (p.Ile59Met) n.688A>G c.204A>G (p.Ile68Met) | |
| 1 | g.230710647T>G | CA424036734 | AGT | c.177A>C (p.Ile59=) n.688A>C c.204A>C (p.Ile68=) | |
| 1 | g.230710648A= | CA1226658652 | AGT | c.176T= (p.Ile59=) n.687T= c.203T= (p.Ile68=) | |
| 1 | g.230710648A>C | CA345207456 | AGT | c.176T>G (p.Ile59Arg) n.687T>G c.203T>G (p.Ile68Arg) | |
| 1 | g.230710648A>G | CA345207454 | AGT | c.176T>C (p.Ile59Thr) n.687T>C c.203T>C (p.Ile68Thr) | dbSNP |
| 1 | g.230710648A>T | CA345207455 | AGT | c.176T>A (p.Ile59Lys) n.687T>A c.203T>A (p.Ile68Lys) | |
| 1 | g.230710649_230710651dup | CA2650971416 | AGT | c.174_176dup (p.Ile59_Pro60insIle) n.685_687dup c.201_203dup (p.Ile68_Pro69insIle) | gnomAD v4 |
| 1 | g.230710649T>A | CA345207457 | AGT | c.175A>T (p.Ile59Leu) n.686A>T c.202A>T (p.Ile68Leu) | |
| 1 | g.230710649T>C | CA345207458 | AGT | c.175A>G (p.Ile59Val) n.686A>G c.202A>G (p.Ile68Val) | |
| 1 | g.230710649T>G | CA345207459 | AGT | c.175A>C (p.Ile59Leu) n.686A>C c.202A>C (p.Ile68Leu) | |
| 1 | g.230710650G>A | CA424036740 | AGT | c.174C>T (p.Phe58=) n.685C>T c.201C>T (p.Phe67=) | COSMIC |
| 1 | g.230710650G>C | CA1448358 | AGT | c.174C>G (p.Phe58Leu) n.685C>G c.201C>G (p.Phe67Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710650G= | CA1143684692 | AGT | c.174C= (p.Phe58=) n.685C= c.201C= (p.Phe67=) | |
| 1 | g.230710650G>T | CA345207460 | AGT | c.174C>A (p.Phe58Leu) n.685C>A c.201C>A (p.Phe67Leu) | |
| 1 | g.230710651A>C | CA345207461 | AGT | c.173T>G (p.Phe58Cys) n.684T>G c.200T>G (p.Phe67Cys) | |
| 1 | g.230710651A>G | CA345207462 | AGT | c.173T>C (p.Phe58Ser) n.684T>C c.200T>C (p.Phe67Ser) | |
| 1 | g.230710651A>T | CA345207463 | AGT | c.173T>A (p.Phe58Tyr) n.684T>A c.200T>A (p.Phe67Tyr) | |
| 1 | g.230710652A>C | CA345207464 | AGT | c.172T>G (p.Phe58Val) n.683T>G c.199T>G (p.Phe67Val) | |
| 1 | g.230710652A>G | CA345207465 | AGT | c.172T>C (p.Phe58Leu) n.683T>C c.199T>C (p.Phe67Leu) | |
| 1 | g.230710652A>T | CA345207466 | AGT | c.172T>A (p.Phe58Ile) n.683T>A c.199T>A (p.Phe67Ile) | |
| 1 | g.230710653G>A | CA424036745 | AGT | c.171C>T (p.Thr57=) n.682C>T c.198C>T (p.Thr66=) | |
| 1 | g.230710653G>C | CA424036746 | AGT | c.171C>G (p.Thr57=) n.682C>G c.198C>G (p.Thr66=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710653G= | CA1226658659 | AGT | c.171C= (p.Thr57=) n.682C= c.198C= (p.Thr66=) | |
| 1 | g.230710653G>T | CA1448359 | AGT | c.171C>A (p.Thr57=) n.682C>A c.198C>A (p.Thr66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710654G>A | CA345207467 | AGT | c.170C>T (p.Thr57Ile) n.681C>T c.197C>T (p.Thr66Ile) | gnomAD v4 |
| 1 | g.230710654G>C | CA345207468 | AGT | c.170C>G (p.Thr57Ser) n.681C>G c.197C>G (p.Thr66Ser) | |
| 1 | g.230710654G>T | CA345207469 | AGT | c.170C>A (p.Thr57Asn) n.681C>A c.197C>A (p.Thr66Asn) | |
| 1 | g.230710655T>A | CA345207470 | AGT | c.169A>T (p.Thr57Ser) n.680A>T c.196A>T (p.Thr66Ser) | |
| 1 | g.230710655T>C | CA345207471 | AGT | c.169A>G (p.Thr57Ala) n.680A>G c.196A>G (p.Thr66Ala) | |
| 1 | g.230710655T>G | CA345207472 | AGT | c.169A>C (p.Thr57Pro) n.680A>C c.196A>C (p.Thr66Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710655T= | CA1226658665 | AGT | c.169A= (p.Thr57=) n.680A= c.196A= (p.Thr66=) | |
| 1 | g.230710656G>A | CA424036751 | AGT | c.168C>T (p.Pro56=) n.679C>T c.195C>T (p.Pro65=) | |
| 1 | g.230710656G>C | CA424036752 | AGT | c.168C>G (p.Pro56=) n.679C>G c.195C>G (p.Pro65=) | |
| 1 | g.230710656G>T | CA424036754 | AGT | c.168C>A (p.Pro56=) n.679C>A c.195C>A (p.Pro65=) | |
| 1 | g.230710657G>A | CA345207473 | AGT | c.167C>T (p.Pro56Leu) n.678C>T c.194C>T (p.Pro65Leu) | gnomAD v4 |
| 1 | g.230710657G>C | CA345207474 | AGT | c.167C>G (p.Pro56Arg) n.678C>G c.194C>G (p.Pro65Arg) | |
| 1 | g.230710657G>T | CA345207475 | AGT | c.167C>A (p.Pro56His) n.678C>A c.194C>A (p.Pro65His) | |
| 1 | g.230710658G>A | CA345207476 | AGT | c.166C>T (p.Pro56Ser) n.677C>T c.193C>T (p.Pro65Ser) | |
| 1 | g.230710658G>C | CA345207477 | AGT | c.166C>G (p.Pro56Ala) n.677C>G c.193C>G (p.Pro65Ala) | |
| 1 | g.230710658G>T | CA345207478 | AGT | c.166C>A (p.Pro56Thr) n.677C>A c.193C>A (p.Pro65Thr) | |
| 1 | g.230710659G>A | CA38872197 | AGT | c.165C>T (p.Asp55=) n.676C>T c.192C>T (p.Asp64=) | dbSNP |
| 1 | g.230710659G>C | CA345207480 | AGT | c.165C>G (p.Asp55Glu) n.676C>G c.192C>G (p.Asp64Glu) | |
| 1 | g.230710659G= | CA1226658669 | AGT | c.165C= (p.Asp55=) n.676C= c.192C= (p.Asp64=) | |
| 1 | g.230710659G>T | CA345207479 | AGT | c.165C>A (p.Asp55Glu) n.676C>A c.192C>A (p.Asp64Glu) | |
| 1 | g.230710660T>A | CA345207481 | AGT | c.164A>T (p.Asp55Val) n.675A>T c.191A>T (p.Asp64Val) | |
| 1 | g.230710660T>C | CA345207482 | AGT | c.164A>G (p.Asp55Gly) n.675A>G c.191A>G (p.Asp64Gly) | |
| 1 | g.230710660T>G | CA345207483 | AGT | c.164A>C (p.Asp55Ala) n.675A>C c.191A>C (p.Asp64Ala) | |
| 1 | g.230710661C>A | CA1448360 | AGT | c.163G>T (p.Asp55Tyr) n.674G>T c.190G>T (p.Asp64Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710661C= | CA1144000887 | AGT | c.163G= (p.Asp55=) n.674G= c.190G= (p.Asp64=) | |
| 1 | g.230710661C>G | CA345207484 | AGT | c.163G>C (p.Asp55His) n.674G>C c.190G>C (p.Asp64His) | gnomAD v4 |
| 1 | g.230710661C>T | CA345207485 | AGT | c.163G>A (p.Asp55Asn) n.674G>A c.190G>A (p.Asp64Asn) | dbSNP |
| 1 | g.230710662T>A | CA345207487 | AGT | c.162A>T (p.Lys54Asn) n.673A>T c.189A>T (p.Lys63Asn) | |
| 1 | g.230710662T>C | CA424036878 | AGT | c.162A>G (p.Lys54=) n.673A>G c.189A>G (p.Lys63=) | |
| 1 | g.230710662T>G | CA345207486 | AGT | c.162A>C (p.Lys54Asn) n.673A>C c.189A>C (p.Lys63Asn) | |
| 1 | g.230710662_230710663delinsA | CA2573051513 | AGT | c.161_162delinsT (p.Lys54MetfsTer28) n.672_673delinsT c.188_189delinsT (p.Lys63MetfsTer28) | ClinVar dbSNP |
| 1 | g.230710663T>A | CA345207488 | AGT | c.161A>T (p.Lys54Ile) n.672A>T c.188A>T (p.Lys63Ile) | |
| 1 | g.230710663T>C | CA345207489 | AGT | c.161A>G (p.Lys54Arg) n.672A>G c.188A>G (p.Lys63Arg) | |
| 1 | g.230710663T>G | CA345207490 | AGT | c.161A>C (p.Lys54Thr) n.672A>C c.188A>C (p.Lys63Thr) | |
| 1 | g.230710664T>A | CA345207491 | AGT | c.160A>T (p.Lys54Ter) n.671A>T c.187A>T (p.Lys63Ter) | |
| 1 | g.230710664T>C | CA1448361 | AGT | c.160A>G (p.Lys54Glu) n.671A>G c.187A>G (p.Lys63Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710664T>G | CA345207492 | AGT | c.160A>C (p.Lys54Gln) n.671A>C c.187A>C (p.Lys63Gln) | |
| 1 | g.230710664T= | CA1148898860 | AGT | c.160A= (p.Lys54=) n.671A= c.187A= (p.Lys63=) | |
| 1 | g.230710665G>A | CA424036883 | AGT | c.159C>T (p.Pro53=) n.670C>T c.186C>T (p.Pro62=) | |
| 1 | g.230710665G>C | CA424036884 | AGT | c.159C>G (p.Pro53=) n.670C>G c.186C>G (p.Pro62=) | |
| 1 | g.230710665G>T | CA424036885 | AGT | c.159C>A (p.Pro53=) n.670C>A c.186C>A (p.Pro62=) | |
| 1 | g.230710666G>A | CA345207493 | AGT | c.158C>T (p.Pro53Leu) n.669C>T c.185C>T (p.Pro62Leu) | dbSNP gnomAD v4 |
| 1 | g.230710666G>C | CA345207495 | AGT | c.158C>G (p.Pro53Arg) n.669C>G c.185C>G (p.Pro62Arg) | |
| 1 | g.230710666G= | CA1226658676 | AGT | c.158C= (p.Pro53=) n.669C= c.185C= (p.Pro62=) | |
| 1 | g.230710666G>T | CA345207494 | AGT | c.158C>A (p.Pro53His) n.669C>A c.185C>A (p.Pro62His) | |
| 1 | g.230710667G>A | CA1448362 | AGT | c.157C>T (p.Pro53Ser) n.668C>T c.184C>T (p.Pro62Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710667G>C | CA345207496 | AGT | c.157C>G (p.Pro53Ala) n.668C>G c.184C>G (p.Pro62Ala) | |
| 1 | g.230710667G= | CA1141866010 | AGT | c.157C= (p.Pro53=) n.668C= c.184C= (p.Pro62=) | |
| 1 | g.230710667G>T | CA38872237 | AGT | c.157C>A (p.Pro53Thr) n.668C>A c.184C>A (p.Pro62Thr) | dbSNP gnomAD v4 |
| 1 | g.230710668C>A | CA1448363 | AGT | c.156G>T (p.Lys52Asn) n.667G>T c.183G>T (p.Lys61Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230710668C= | CA1226658683 | AGT | c.156G= (p.Lys52=) n.667G= c.183G= (p.Lys61=) | |
| 1 | g.230710668C>G | CA345207497 | AGT | c.156G>C (p.Lys52Asn) n.667G>C c.183G>C (p.Lys61Asn) | |
| 1 | g.230710668C>T | CA424036889 | AGT | c.156G>A (p.Lys52=) n.667G>A c.183G>A (p.Lys61=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710669T>A | CA345207498 | AGT | c.155A>T (p.Lys52Met) n.666A>T c.182A>T (p.Lys61Met) | |
| 1 | g.230710669T>C | CA345207499 | AGT | c.155A>G (p.Lys52Arg) n.666A>G c.182A>G (p.Lys61Arg) | |
| 1 | g.230710669T>G | CA345207500 | AGT | c.155A>C (p.Lys52Thr) n.666A>C c.182A>C (p.Lys61Thr) | |
| 1 | g.230710670T>A | CA345207501 | AGT | c.154A>T (p.Lys52Ter) n.665A>T c.181A>T (p.Lys61Ter) | |
| 1 | g.230710670T>C | CA345207502 | AGT | c.154A>G (p.Lys52Glu) n.665A>G c.181A>G (p.Lys61Glu) | |
| 1 | g.230710670T>G | CA345207503 | AGT | c.154A>C (p.Lys52Gln) n.665A>C c.181A>C (p.Lys61Gln) | |
| 1 | g.230710671C>A | CA424036891 | AGT | c.153G>T (p.Gly51=) n.664G>T c.180G>T (p.Gly60=) | |
| 1 | g.230710671C>G | CA424036893 | AGT | c.153G>C (p.Gly51=) n.664G>C c.180G>C (p.Gly60=) | |
| 1 | g.230710671C>T | CA424036892 | AGT | c.153G>A (p.Gly51=) n.664G>A c.180G>A (p.Gly60=) | |
| 1 | g.230710673del | CA2650971417 | AGT | c.153del (p.Lys52SerfsTer?) n.664del c.180del (p.Lys61SerfsTer?) | gnomAD v4 |
| 1 | g.230710672C>A | CA345207504 | AGT | c.152G>T (p.Gly51Val) n.663G>T c.179G>T (p.Gly60Val) | |
| 1 | g.230710672C= | CA1226658689 | AGT | c.152G= (p.Gly51=) n.663G= c.179G= (p.Gly60=) | |
| 1 | g.230710672C>G | CA345207506 | AGT | c.152G>C (p.Gly51Ala) n.663G>C c.179G>C (p.Gly60Ala) | |
| 1 | g.230710672C>T | CA345207505 | AGT | c.152G>A (p.Gly51Glu) n.663G>A c.179G>A (p.Gly60Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710673C>A | CA345207507 | AGT | c.151G>T (p.Gly51Trp) n.662G>T c.178G>T (p.Gly60Trp) | gnomAD v4 |
| 1 | g.230710673C= | CA1148241940 | AGT | c.151G= (p.Gly51=) n.662G= c.178G= (p.Gly60=) | |
| 1 | g.230710673C>G | CA345207508 | AGT | c.151G>C (p.Gly51Arg) n.662G>C c.178G>C (p.Gly60Arg) | |
| 1 | g.230710673C>T | CA1448364 | AGT | c.151G>A (p.Gly51Arg) n.662G>A c.178G>A (p.Gly60Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710674G>A | CA1448365 | AGT | c.150C>T (p.Ala50=) n.661C>T c.177C>T (p.Ala59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710674G>C | CA424036900 | AGT | c.150C>G (p.Ala50=) n.661C>G c.177C>G (p.Ala59=) | |
| 1 | g.230710674G= | CA1226658695 | AGT | c.150C= (p.Ala50=) n.661C= c.177C= (p.Ala59=) | |
| 1 | g.230710674G>T | CA424036901 | AGT | c.150C>A (p.Ala50=) n.661C>A c.177C>A (p.Ala59=) | |
| 1 | g.230710675G>A | CA345207511 | AGT | c.149C>T (p.Ala50Val) n.660C>T c.176C>T (p.Ala59Val) | COSMIC |
| 1 | g.230710675G>C | CA345207509 | AGT | c.149C>G (p.Ala50Gly) n.660C>G c.176C>G (p.Ala59Gly) | |
| 1 | g.230710675G>T | CA345207510 | AGT | c.149C>A (p.Ala50Asp) n.660C>A c.176C>A (p.Ala59Asp) | |
| 1 | g.230710676C>A | CA345207512 | AGT | c.148G>T (p.Ala50Ser) n.659G>T c.175G>T (p.Ala59Ser) | |
| 1 | g.230710676C= | CA1226658697 | AGT | c.148G= (p.Ala50=) n.659G= c.175G= (p.Ala59=) | |
| 1 | g.230710676C>G | CA345207513 | AGT | c.148G>C (p.Ala50Pro) n.659G>C c.175G>C (p.Ala59Pro) | |
| 1 | g.230710676C>T | CA1448366 | AGT | c.148G>A (p.Ala50Thr) n.659G>A c.175G>A (p.Ala59Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230710677A= | CA1226658701 | AGT | c.147T= (p.Asn49=) n.658T= c.174T= (p.Asn58=) | |
| 1 | g.230710677A>C | CA345207514 | AGT | c.147T>G (p.Asn49Lys) n.658T>G c.174T>G (p.Asn58Lys) | |
| 1 | g.230710677A>G | CA424036903 | AGT | c.147T>C (p.Asn49=) n.658T>C c.174T>C (p.Asn58=) | COSMIC |
| 1 | g.230710677A>T | CA345207515 | AGT | c.147T>A (p.Asn49Lys) n.658T>A c.174T>A (p.Asn58Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710678T>A | CA345207516 | AGT | c.146A>T (p.Asn49Ile) n.657A>T c.173A>T (p.Asn58Ile) | |
| 1 | g.230710678T>C | CA345207517 | AGT | c.146A>G (p.Asn49Ser) n.657A>G c.173A>G (p.Asn58Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710678T>G | CA345207518 | AGT | c.146A>C (p.Asn49Thr) n.657A>C c.173A>C (p.Asn58Thr) | |
| 1 | g.230710678T= | CA1226658709 | AGT | c.146A= (p.Asn49=) n.657A= c.173A= (p.Asn58=) | |
| 1 | g.230710679T>A | CA345207519 | AGT | c.145A>T (p.Asn49Tyr) n.656A>T c.172A>T (p.Asn58Tyr) | |
| 1 | g.230710679T>C | CA345207520 | AGT | c.145A>G (p.Asn49Asp) n.656A>G c.172A>G (p.Asn58Asp) | |
| 1 | g.230710679T>G | CA345207521 | AGT | c.145A>C (p.Asn49His) n.656A>C c.172A>C (p.Asn58His) | |
| 1 | g.230710680G>A | CA424036907 | AGT | c.144C>T (p.Ala48=) n.655C>T c.171C>T (p.Ala57=) | |
| 1 | g.230710680G>C | CA424036908 | AGT | c.144C>G (p.Ala48=) n.655C>G c.171C>G (p.Ala57=) | |
| 1 | g.230710680G= | CA1145190341 | AGT | c.144C= (p.Ala48=) n.655C= c.171C= (p.Ala57=) | |
| 1 | g.230710680G>T | CA1448367 | AGT | c.144C>A (p.Ala48=) n.655C>A c.171C>A (p.Ala57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710681G>A | CA345207522 | AGT | c.143C>T (p.Ala48Val) n.654C>T c.170C>T (p.Ala57Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230710681G>C | CA345207523 | AGT | c.143C>G (p.Ala48Gly) n.654C>G c.170C>G (p.Ala57Gly) | |
| 1 | g.230710681G= | CA1226658717 | AGT | c.143C= (p.Ala48=) n.654C= c.170C= (p.Ala57=) | |
| 1 | g.230710681G>T | CA38872281 | AGT | c.143C>A (p.Ala48Asp) n.654C>A c.170C>A (p.Ala57Asp) | dbSNP COSMIC |
| 1 | g.230710682C>A | CA345207524 | AGT | c.142G>T (p.Ala48Ser) n.653G>T c.169G>T (p.Ala57Ser) | |
| 1 | g.230710682C>G | CA345207525 | AGT | c.142G>C (p.Ala48Pro) n.653G>C c.169G>C (p.Ala57Pro) | |
| 1 | g.230710682C>T | CA345207526 | AGT | c.142G>A (p.Ala48Thr) n.653G>A c.169G>A (p.Ala57Thr) | |
| 1 | g.230710683C>A | CA345207527 | AGT | c.141G>T (p.Lys47Asn) n.652G>T c.168G>T (p.Lys56Asn) | dbSNP |
| 1 | g.230710683C= | CA1226658724 | AGT | c.141G= (p.Lys47=) n.652G= c.168G= (p.Lys56=) | |
| 1 | g.230710683C>G | CA345207528 | AGT | c.141G>C (p.Lys47Asn) n.652G>C c.168G>C (p.Lys56Asn) | |
| 1 | g.230710683C>T | CA1448368 | AGT | c.141G>A (p.Lys47=) n.652G>A c.168G>A (p.Lys56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710684T>A | CA1448369 | AGT | c.140A>T (p.Lys47Met) n.651A>T c.167A>T (p.Lys56Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710684T>C | CA345207529 | AGT | c.140A>G (p.Lys47Arg) n.651A>G c.167A>G (p.Lys56Arg) | |
| 1 | g.230710684T>G | CA345207530 | AGT | c.140A>C (p.Lys47Thr) n.651A>C c.167A>C (p.Lys56Thr) | |
| 1 | g.230710684T= | CA1226658728 | AGT | c.140A= (p.Lys47=) n.651A= c.167A= (p.Lys56=) | |
| 1 | g.230710685T>A | CA345207533 | AGT | c.139A>T (p.Lys47Ter) n.650A>T c.166A>T (p.Lys56Ter) | |
| 1 | g.230710685T>C | CA345207532 | AGT | c.139A>G (p.Lys47Glu) n.650A>G c.166A>G (p.Lys56Glu) | dbSNP |
| 1 | g.230710685T>G | CA345207531 | AGT | c.139A>C (p.Lys47Gln) n.650A>C c.166A>C (p.Lys56Gln) | |
| 1 | g.230710685T= | CA1226658736 | AGT | c.139A= (p.Lys47=) n.650A= c.166A= (p.Lys56=) | |
| 1 | g.230710686T>A | CA424036920 | AGT | c.138A>T (p.Ala46=) n.649A>T c.165A>T (p.Ala55=) | |
| 1 | g.230710686T>C | CA424036921 | AGT | c.138A>G (p.Ala46=) n.649A>G c.165A>G (p.Ala55=) | COSMIC |
| 1 | g.230710686T>G | CA424036922 | AGT | c.138A>C (p.Ala46=) n.649A>C c.165A>C (p.Ala55=) | |
| 1 | g.230710687G>A | CA345207536 | AGT | c.137C>T (p.Ala46Val) n.648C>T c.164C>T (p.Ala55Val) | |
| 1 | g.230710687G>C | CA345207534 | AGT | c.137C>G (p.Ala46Gly) n.648C>G c.164C>G (p.Ala55Gly) | |
| 1 | g.230710687G>T | CA345207535 | AGT | c.137C>A (p.Ala46Glu) n.648C>A c.164C>A (p.Ala55Glu) | |
| 1 | g.230710688C>A | CA345207537 | AGT | c.136G>T (p.Ala46Ser) n.647G>T c.163G>T (p.Ala55Ser) | |
| 1 | g.230710688C>G | CA345207538 | AGT | c.136G>C (p.Ala46Pro) n.647G>C c.163G>C (p.Ala55Pro) | |
| 1 | g.230710688C>T | CA345207539 | AGT | c.136G>A (p.Ala46Thr) n.647G>A c.163G>A (p.Ala55Thr) | gnomAD v4 |
| 1 | g.230710689C>A | CA424036926 | AGT | c.135G>T (p.Leu45=) n.646G>T c.162G>T (p.Leu54=) | |
| 1 | g.230710689C= | CA1226658740 | AGT | c.135G= (p.Leu45=) n.646G= c.162G= (p.Leu54=) | |
| 1 | g.230710689C>G | CA424036927 | AGT | c.135G>C (p.Leu45=) n.646G>C c.162G>C (p.Leu54=) | |
| 1 | g.230710689C>T | CA424036928 | AGT | c.135G>A (p.Leu45=) n.646G>A c.162G>A (p.Leu54=) | ClinVar dbSNP |
| 1 | g.230710690A>C | CA345207540 | AGT | c.134T>G (p.Leu45Arg) n.645T>G c.161T>G (p.Leu54Arg) | |
| 1 | g.230710690A>G | CA345207541 | AGT | c.134T>C (p.Leu45Pro) n.645T>C c.161T>C (p.Leu54Pro) | |
| 1 | g.230710690A>T | CA345207542 | AGT | c.134T>A (p.Leu45Gln) n.645T>A c.161T>A (p.Leu54Gln) | |
| 1 | g.230710691G>A | CA424036933 | AGT | c.133C>T (p.Leu45=) n.644C>T c.160C>T (p.Leu54=) | |
| 1 | g.230710691G>C | CA345207543 | AGT | c.133C>G (p.Leu45Val) n.644C>G c.160C>G (p.Leu54Val) | |
| 1 | g.230710691G= | CA1226658745 | AGT | c.133C= (p.Leu45=) n.644C= c.160C= (p.Leu54=) | |
| 1 | g.230710691G>T | CA345207544 | AGT | c.133C>A (p.Leu45Met) n.644C>A c.160C>A (p.Leu54Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710692C>A | CA345207545 | AGT | c.132G>T (p.Gln44His) n.643G>T c.159G>T (p.Gln53His) | |
| 1 | g.230710692C>G | CA345207546 | AGT | c.132G>C (p.Gln44His) n.643G>C c.159G>C (p.Gln53His) | |
| 1 | g.230710692C>T | CA424036936 | AGT | c.132G>A (p.Gln44=) n.643G>A c.159G>A (p.Gln53=) | |
| 1 | g.230710693T>A | CA345207549 | AGT | c.131A>T (p.Gln44Leu) n.642A>T c.158A>T (p.Gln53Leu) | |
| 1 | g.230710693T>C | CA345207548 | AGT | c.131A>G (p.Gln44Arg) n.642A>G c.158A>G (p.Gln53Arg) | |
| 1 | g.230710693T>G | CA345207547 | AGT | c.131A>C (p.Gln44Pro) n.642A>C c.158A>C (p.Gln53Pro) | |
| 1 | g.230710694G>A | CA38872313 | AGT | c.130C>T (p.Gln44Ter) n.641C>T c.157C>T (p.Gln53Ter) | dbSNP |
| 1 | g.230710694G>C | CA1448370 | AGT | c.130C>G (p.Gln44Glu) n.641C>G c.157C>G (p.Gln53Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710694G= | CA1139772892 | AGT | c.130C= (p.Gln44=) n.641C= c.157C= (p.Gln53=) | |
| 1 | g.230710694G>T | CA345207553 | AGT | c.130C>A (p.Gln44Lys) n.641C>A c.157C>A (p.Gln53Lys) | gnomAD v4 |
| 1 | g.230710695C>A | CA345207554 | AGT | c.129G>T (p.Glu43Asp) n.640G>T c.156G>T (p.Glu52Asp) | |
| 1 | g.230710695C= | CA1226658756 | AGT | c.129G= (p.Glu43=) n.640G= c.156G= (p.Glu52=) | |
| 1 | g.230710695C>G | CA345207556 | AGT | c.129G>C (p.Glu43Asp) n.640G>C c.156G>C (p.Glu52Asp) | |
| 1 | g.230710695C>T | CA424036942 | AGT | c.129G>A (p.Glu43=) n.640G>A c.156G>A (p.Glu52=) | dbSNP |
| 1 | g.230710696T>A | CA345207558 | AGT | c.128A>T (p.Glu43Val) n.639A>T c.155A>T (p.Glu52Val) | |
| 1 | g.230710696T>C | CA345207560 | AGT | c.128A>G (p.Glu43Gly) n.639A>G c.155A>G (p.Glu52Gly) | gnomAD v4 |
| 1 | g.230710696T>G | CA345207561 | AGT | c.128A>C (p.Glu43Ala) n.639A>C c.155A>C (p.Glu52Ala) | |
| 1 | g.230710697C>A | CA345207562 | AGT | c.127G>T (p.Glu43Ter) n.638G>T c.154G>T (p.Glu52Ter) | |
| 1 | g.230710697C>G | CA345207565 | AGT | c.127G>C (p.Glu43Gln) n.638G>C c.154G>C (p.Glu52Gln) | |
| 1 | g.230710697C>T | CA345207566 | AGT | c.127G>A (p.Glu43Lys) n.638G>A c.154G>A (p.Glu52Lys) | gnomAD v4 |
| 1 | g.230710698A>C | CA345207568 | AGT | c.126T>G (p.Cys42Trp) n.637T>G c.153T>G (p.Cys51Trp) | |
| 1 | g.230710698A>G | CA424036944 | AGT | c.126T>C (p.Cys42=) n.637T>C c.153T>C (p.Cys51=) | |
| 1 | g.230710698A>T | CA345207569 | AGT | c.126T>A (p.Cys42Ter) n.637T>A c.153T>A (p.Cys51Ter) | |
| 1 | g.230710699C>A | CA345207572 | AGT | c.125G>T (p.Cys42Phe) n.636G>T c.152G>T (p.Cys51Phe) | |
| 1 | g.230710699C= | CA1226658761 | AGT | c.125G= (p.Cys42=) n.636G= c.152G= (p.Cys51=) | |
| 1 | g.230710699C>G | CA345207573 | AGT | c.125G>C (p.Cys42Ser) n.636G>C c.152G>C (p.Cys51Ser) | dbSNP |
| 1 | g.230710699C>T | CA345207570 | AGT | c.125G>A (p.Cys42Tyr) n.636G>A c.152G>A (p.Cys51Tyr) | |
| 1 | g.230710700A= | CA1140725505 | AGT | c.124T= (p.Cys42=) n.635T= c.151T= (p.Cys51=) | |
| 1 | g.230710700A>C | CA345207575 | AGT | c.124T>G (p.Cys42Gly) n.635T>G c.151T>G (p.Cys51Gly) | |
| 1 | g.230710700A>G | CA1448371 | AGT | c.124T>C (p.Cys42Arg) n.635T>C c.151T>C (p.Cys51Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710700A>T | CA345207576 | AGT | c.124T>A (p.Cys42Ser) n.635T>A c.151T>A (p.Cys51Ser) | |
| 1 | g.230710701G>A | CA1448372 | AGT | c.123C>T (p.Thr41=) n.634C>T c.150C>T (p.Thr50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710701G>C | CA424036949 | AGT | c.123C>G (p.Thr41=) n.634C>G c.150C>G (p.Thr50=) | |
| 1 | g.230710701G= | CA1226658771 | AGT | c.123C= (p.Thr41=) n.634C= c.150C= (p.Thr50=) | |
| 1 | g.230710701G>T | CA424036948 | AGT | c.123C>A (p.Thr41=) n.634C>A c.150C>A (p.Thr50=) | |
| 1 | g.230710702G>A | CA345207579 | AGT | c.122C>T (p.Thr41Ile) n.633C>T c.149C>T (p.Thr50Ile) | |
| 1 | g.230710702G>C | CA345207581 | AGT | c.122C>G (p.Thr41Ser) n.633C>G c.149C>G (p.Thr50Ser) | |
| 1 | g.230710702G>T | CA345207583 | AGT | c.122C>A (p.Thr41Asn) n.633C>A c.149C>A (p.Thr50Asn) | gnomAD v4 |
| 1 | g.230710703T>A | CA1448373 | AGT | c.121A>T (p.Thr41Ser) n.632A>T c.148A>T (p.Thr50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710703T>C | CA38872351 | AGT | c.121A>G (p.Thr41Ala) n.632A>G c.148A>G (p.Thr50Ala) | dbSNP |
| 1 | g.230710703T>G | CA345207585 | AGT | c.121A>C (p.Thr41Pro) n.632A>C c.148A>C (p.Thr50Pro) | |
| 1 | g.230710703T= | CA1143505377 | AGT | c.121A= (p.Thr41=) n.632A= c.148A= (p.Thr50=) | |
| 1 | g.230710704A>C | CA345207588 | AGT | c.120T>G (p.Ser40Arg) n.631T>G c.147T>G (p.Ser49Arg) | |
| 1 | g.230710704A>G | CA424036953 | AGT | c.120T>C (p.Ser40=) n.631T>C c.147T>C (p.Ser49=) | |
| 1 | g.230710704A>T | CA345207590 | AGT | c.120T>A (p.Ser40Arg) n.631T>A c.147T>A (p.Ser49Arg) | |
| 1 | g.230710705C>A | CA345207591 | AGT | c.119G>T (p.Ser40Ile) n.630G>T c.146G>T (p.Ser49Ile) | |
| 1 | g.230710705C= | CA1144166944 | AGT | c.119G= (p.Ser40=) n.630G= c.146G= (p.Ser49=) | |
| 1 | g.230710705C>G | CA345207593 | AGT | c.119G>C (p.Ser40Thr) n.630G>C c.146G>C (p.Ser49Thr) | |
| 1 | g.230710705C>T | CA1448374 | AGT | c.119G>A (p.Ser40Asn) n.630G>A c.146G>A (p.Ser49Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710706T>A | CA345207596 | AGT | c.118A>T (p.Ser40Cys) n.629A>T c.145A>T (p.Ser49Cys) | |
| 1 | g.230710706T>C | CA1448375 | AGT | c.118A>G (p.Ser40Gly) n.629A>G c.145A>G (p.Ser49Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710706T>G | CA345207598 | AGT | c.118A>C (p.Ser40Arg) n.629A>C c.145A>C (p.Ser49Arg) | gnomAD v4 |
| 1 | g.230710706T= | CA1226658788 | AGT | c.118A= (p.Ser40=) n.629A= c.145A= (p.Ser49=) | |
| 1 | g.230710707C>A | CA345207600 | AGT | c.117G>T (p.Glu39Asp) n.628G>T c.144G>T (p.Glu48Asp) | |
| 1 | g.230710707C= | CA1226658793 | AGT | c.117G= (p.Glu39=) n.628G= c.144G= (p.Glu48=) | |
| 1 | g.230710707C>G | CA345207601 | AGT | c.117G>C (p.Glu39Asp) n.628G>C c.144G>C (p.Glu48Asp) | gnomAD v4 |
| 1 | g.230710707C>T | CA1448376 | AGT | c.117G>A (p.Glu39=) n.628G>A c.144G>A (p.Glu48=) | dbSNP ExAC gnomAD v2 |
| 1 | g.230710708T>A | CA345207604 | AGT | c.116A>T (p.Glu39Val) n.627A>T c.143A>T (p.Glu48Val) | |
| 1 | g.230710708T>C | CA345207606 | AGT | c.116A>G (p.Glu39Gly) n.627A>G c.143A>G (p.Glu48Gly) | |
| 1 | g.230710708T>G | CA345207607 | AGT | c.116A>C (p.Glu39Ala) n.627A>C c.143A>C (p.Glu48Ala) | gnomAD v4 |
| 1 | g.230710709C>A | CA345207609 | AGT | c.115G>T (p.Glu39Ter) n.626G>T c.142G>T (p.Glu48Ter) | |
| 1 | g.230710709C= | CA1226658794 | AGT | c.115G= (p.Glu39=) n.626G= c.142G= (p.Glu48=) | |
| 1 | g.230710709C>G | CA345207611 | AGT | c.115G>C (p.Glu39Gln) n.626G>C c.142G>C (p.Glu48Gln) | |
| 1 | g.230710709C>T | CA1448377 | AGT | c.115G>A (p.Glu39Lys) n.626G>A c.142G>A (p.Glu48Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710710A>C | CA345207612 | AGT | c.114T>G (p.Asn38Lys) n.625T>G c.141T>G (p.Asn47Lys) | |
| 1 | g.230710710A>G | CA424036961 | AGT | c.114T>C (p.Asn38=) n.625T>C c.141T>C (p.Asn47=) | dbSNP gnomAD v4 |
| 1 | g.230710710A>T | CA345207613 | AGT | c.114T>A (p.Asn38Lys) n.625T>A c.141T>A (p.Asn47Lys) | |
| 1 | g.230710711T>A | CA345207614 | AGT | c.113A>T (p.Asn38Ile) n.624A>T c.140A>T (p.Asn47Ile) | |
| 1 | g.230710711T>C | CA38872379 | AGT | c.113A>G (p.Asn38Ser) n.624A>G c.140A>G (p.Asn47Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710711T>G | CA345207615 | AGT | c.113A>C (p.Asn38Thr) n.624A>C c.140A>C (p.Asn47Thr) | |
| 1 | g.230710711T= | CA1226658798 | AGT | c.113A= (p.Asn38=) n.624A= c.140A= (p.Asn47=) | |
| 1 | g.230710712del | CA2650971418 | AGT | c.113del (p.Asn38MetfsTer?) n.624del c.140del (p.Asn47MetfsTer?) | gnomAD v4 |
| 1 | g.230710712T>A | CA345207618 | AGT | c.112A>T (p.Asn38Tyr) n.623A>T c.139A>T (p.Asn47Tyr) | |
| 1 | g.230710712T>C | CA345207619 | AGT | c.112A>G (p.Asn38Asp) n.623A>G c.139A>G (p.Asn47Asp) | |
| 1 | g.230710712T>G | CA1448378 | AGT | c.112A>C (p.Asn38His) n.623A>C c.139A>C (p.Asn47His) | dbSNP ExAC gnomAD v4 |
| 1 | g.230710712T= | CA1226658800 | AGT | c.112A= (p.Asn38=) n.623A= c.139A= (p.Asn47=) |