Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2167473_2167479dup | CA2574757503 | TH | c.654_660dup (p.Arg221AspfsTer?) c.*343_*349dup (n.*343_*349dup) c.*374_*380dup (n.*374_*380dup) c.735_741dup (p.Arg248AspfsTer?) c.747_753dup (p.Arg252AspfsTer?) c.94_100dup n.783_789dup c.666_672dup (p.Arg225AspfsTer?) | |
11 | g.2167474A= | CA1948006693 | TH | c.656T= (p.Ile219=) c.*345T= (n.*345T=) c.*376T= (n.*376T=) c.737T= (p.Ile246=) c.749T= (p.Ile250=) c.96T= n.785T= c.668T= (p.Ile223=) | |
11 | g.2167474A>C | CA379127484 | TH | c.656T>G (p.Ile219Ser) c.*345T>G (n.*345T>G) c.*376T>G (n.*376T>G) c.737T>G (p.Ile246Ser) c.749T>G (p.Ile250Ser) c.96T>G n.785T>G c.668T>G (p.Ile223Ser) | gnomAD v4 |
11 | g.2167474A>G | CA16619300 | TH | c.656T>C (p.Ile219Thr) c.*345T>C (n.*345T>C) c.*376T>C (n.*376T>C) c.737T>C (p.Ile246Thr) c.749T>C (p.Ile250Thr) c.96T>C n.785T>C c.668T>C (p.Ile223Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2167474A>T | CA379127485 | TH | c.656T>A (p.Ile219Asn) c.*345T>A (n.*345T>A) c.*376T>A (n.*376T>A) c.737T>A (p.Ile246Asn) c.749T>A (p.Ile250Asn) c.96T>A n.785T>A c.668T>A (p.Ile223Asn) | gnomAD v4 |
11 | g.2167475T>A | CA379127486 | TH | c.655A>T (p.Ile219Phe) c.*344A>T (n.*344A>T) c.*375A>T (n.*375A>T) c.736A>T (p.Ile246Phe) c.748A>T (p.Ile250Phe) c.95A>T n.784A>T c.667A>T (p.Ile223Phe) | |
11 | g.2167475T>C | CA379127487 | TH | c.655A>G (p.Ile219Val) c.*344A>G (n.*344A>G) c.*375A>G (n.*375A>G) c.736A>G (p.Ile246Val) c.748A>G (p.Ile250Val) c.95A>G n.784A>G c.667A>G (p.Ile223Val) | |
11 | g.2167475T>G | CA379127488 | TH | c.655A>C (p.Ile219Leu) c.*344A>C (n.*344A>C) c.*375A>C (n.*375A>C) c.736A>C (p.Ile246Leu) c.748A>C (p.Ile250Leu) c.95A>C n.784A>C c.667A>C (p.Ile223Leu) | |
11 | g.2167476C>A | CA472035070 | TH | c.654G>T (p.Pro218=) c.*343G>T (n.*343G>T) c.*374G>T (n.*374G>T) c.735G>T (p.Pro245=) c.747G>T (p.Pro249=) c.94G>T n.783G>T c.666G>T (p.Pro222=) | gnomAD v4 |
11 | g.2167476C= | CA1948006697 | TH | c.654G= (p.Pro218=) c.*343G= (n.*343G=) c.*374G= (n.*374G=) c.735G= (p.Pro245=) c.747G= (p.Pro249=) c.94G= n.783G= c.666G= (p.Pro222=) | |
11 | g.2167476C>G | CA472035071 | TH | c.654G>C (p.Pro218=) c.*343G>C (n.*343G>C) c.*374G>C (n.*374G>C) c.735G>C (p.Pro245=) c.747G>C (p.Pro249=) c.94G>C n.783G>C c.666G>C (p.Pro222=) | |
11 | g.2167476C>T | CA472035072 | TH | c.654G>A (p.Pro218=) c.*343G>A (n.*343G>A) c.*374G>A (n.*374G>A) c.735G>A (p.Pro245=) c.747G>A (p.Pro249=) c.94G>A n.783G>A c.666G>A (p.Pro222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2167477G>A | CA5818544 | TH | c.653C>T (p.Pro218Leu) c.*342C>T (n.*342C>T) c.*373C>T (n.*373C>T) c.734C>T (p.Pro245Leu) c.746C>T (p.Pro249Leu) c.93C>T n.782C>T c.665C>T (p.Pro222Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2167477G>C | CA379127493 | TH | c.653C>G (p.Pro218Arg) c.*342C>G (n.*342C>G) c.*373C>G (n.*373C>G) c.734C>G (p.Pro245Arg) c.746C>G (p.Pro249Arg) c.93C>G n.782C>G c.665C>G (p.Pro222Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2167477G= | CA1948006705 | TH | c.653C= (p.Pro218=) c.*342C= (n.*342C=) c.*373C= (n.*373C=) c.734C= (p.Pro245=) c.746C= (p.Pro249=) c.93C= n.782C= c.665C= (p.Pro222=) | |
11 | g.2167477G>T | CA379127496 | TH | c.653C>A (p.Pro218Gln) c.*342C>A (n.*342C>A) c.*373C>A (n.*373C>A) c.734C>A (p.Pro245Gln) c.746C>A (p.Pro249Gln) c.93C>A n.782C>A c.665C>A (p.Pro222Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2167478G>A | CA379127500 | TH | c.652C>T (p.Pro218Ser) c.*341C>T (n.*341C>T) c.*372C>T (n.*372C>T) c.733C>T (p.Pro245Ser) c.745C>T (p.Pro249Ser) c.92C>T n.781C>T c.664C>T (p.Pro222Ser) | ClinVar gnomAD v4 |
11 | g.2167478G>C | CA379127504 | TH | c.652C>G (p.Pro218Ala) c.*341C>G (n.*341C>G) c.*372C>G (n.*372C>G) c.733C>G (p.Pro245Ala) c.745C>G (p.Pro249Ala) c.92C>G n.781C>G c.664C>G (p.Pro222Ala) | gnomAD v4 |
11 | g.2167478G>T | CA379127499 | TH | c.652C>A (p.Pro218Thr) c.*341C>A (n.*341C>A) c.*372C>A (n.*372C>A) c.733C>A (p.Pro245Thr) c.745C>A (p.Pro249Thr) c.92C>A n.781C>A c.664C>A (p.Pro222Thr) | gnomAD v4 |
11 | g.2167479G>A | CA472035073 | TH | c.651C>T (p.Asp217=) c.*340C>T (n.*340C>T) c.*371C>T (n.*371C>T) c.732C>T (p.Asp244=) c.744C>T (p.Asp248=) c.91C>T n.780C>T c.663C>T (p.Asp221=) | gnomAD v4 |
11 | g.2167479G>C | CA379127506 | TH | c.651C>G (p.Asp217Glu) c.*340C>G (n.*340C>G) c.*371C>G (n.*371C>G) c.732C>G (p.Asp244Glu) c.744C>G (p.Asp248Glu) c.91C>G n.780C>G c.663C>G (p.Asp221Glu) | |
11 | g.2167479G= | CA1948006711 | TH | c.651C= (p.Asp217=) c.*340C= (n.*340C=) c.*371C= (n.*371C=) c.732C= (p.Asp244=) c.744C= (p.Asp248=) c.91C= n.780C= c.663C= (p.Asp221=) | |
11 | g.2167479G>T | CA379127507 | TH | c.651C>A (p.Asp217Glu) c.*340C>A (n.*340C>A) c.*371C>A (n.*371C>A) c.732C>A (p.Asp244Glu) c.744C>A (p.Asp248Glu) c.91C>A n.780C>A c.663C>A (p.Asp221Glu) | dbSNP gnomAD v4 |
11 | g.2167480T>A | CA379127509 | TH | c.650A>T (p.Asp217Val) c.*339A>T (n.*339A>T) c.*370A>T (n.*370A>T) c.731A>T (p.Asp244Val) c.743A>T (p.Asp248Val) c.90A>T n.779A>T c.662A>T (p.Asp221Val) | |
11 | g.2167480T>C | CA379127511 | TH | c.650A>G (p.Asp217Gly) c.*339A>G (n.*339A>G) c.*370A>G (n.*370A>G) c.731A>G (p.Asp244Gly) c.743A>G (p.Asp248Gly) c.90A>G n.779A>G c.662A>G (p.Asp221Gly) | |
11 | g.2167480T>G | CA379127513 | TH | c.650A>C (p.Asp217Ala) c.*339A>C (n.*339A>C) c.*370A>C (n.*370A>C) c.731A>C (p.Asp244Ala) c.743A>C (p.Asp248Ala) c.90A>C n.779A>C c.662A>C (p.Asp221Ala) | |
11 | g.2167481C>A | CA379127516 | TH | c.649G>T (p.Asp217Tyr) c.*338G>T (n.*338G>T) c.*369G>T (n.*369G>T) c.730G>T (p.Asp244Tyr) c.742G>T (p.Asp248Tyr) c.89G>T n.778G>T c.661G>T (p.Asp221Tyr) | gnomAD v4 |
11 | g.2167481C= | CA1948006715 | TH | c.649G= (p.Asp217=) c.*338G= (n.*338G=) c.*369G= (n.*369G=) c.730G= (p.Asp244=) c.742G= (p.Asp248=) c.89G= n.778G= c.661G= (p.Asp221=) | |
11 | g.2167481C>G | CA379127518 | TH | c.649G>C (p.Asp217His) c.*338G>C (n.*338G>C) c.*369G>C (n.*369G>C) c.730G>C (p.Asp244His) c.742G>C (p.Asp248His) c.89G>C n.778G>C c.661G>C (p.Asp221His) | gnomAD v4 |
11 | g.2167481C>T | CA216286145 | TH | c.649G>A (p.Asp217Asn) c.*338G>A (n.*338G>A) c.*369G>A (n.*369G>A) c.730G>A (p.Asp244Asn) c.742G>A (p.Asp248Asn) c.89G>A n.778G>A c.661G>A (p.Asp221Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2167482G>A | CA5818545 | TH | c.648C>T (p.Gly216=) c.*337C>T (n.*337C>T) c.*368C>T (n.*368C>T) c.729C>T (p.Gly243=) c.741C>T (p.Gly247=) c.88C>T n.777C>T c.660C>T (p.Gly220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2167482G>C | CA472035075 | TH | c.648C>G (p.Gly216=) c.*337C>G (n.*337C>G) c.*368C>G (n.*368C>G) c.729C>G (p.Gly243=) c.741C>G (p.Gly247=) c.88C>G n.777C>G c.660C>G (p.Gly220=) | |
11 | g.2167482G= | CA1948006719 | TH | c.648C= (p.Gly216=) c.*337C= (n.*337C=) c.*368C= (n.*368C=) c.729C= (p.Gly243=) c.741C= (p.Gly247=) c.88C= n.777C= c.660C= (p.Gly220=) | |
11 | g.2167482G>T | CA472035074 | TH | c.648C>A (p.Gly216=) c.*337C>A (n.*337C>A) c.*368C>A (n.*368C>A) c.729C>A (p.Gly243=) c.741C>A (p.Gly247=) c.88C>A n.777C>A c.660C>A (p.Gly220=) | gnomAD v4 |
11 | g.2167483C>A | CA379127519 | TH | c.647G>T (p.Gly216Val) c.*336G>T (n.*336G>T) c.*367G>T (n.*367G>T) c.728G>T (p.Gly243Val) c.740G>T (p.Gly247Val) c.87G>T n.776G>T c.659G>T (p.Gly220Val) | gnomAD v4 |
11 | g.2167483C= | CA1948006724 | TH | c.647G= (p.Gly216=) c.*336G= (n.*336G=) c.*367G= (n.*367G=) c.728G= (p.Gly243=) c.740G= (p.Gly247=) c.87G= n.776G= c.659G= (p.Gly220=) | |
11 | g.2167483C>G | CA379127520 | TH | c.647G>C (p.Gly216Ala) c.*336G>C (n.*336G>C) c.*367G>C (n.*367G>C) c.728G>C (p.Gly243Ala) c.740G>C (p.Gly247Ala) c.87G>C n.776G>C c.659G>C (p.Gly220Ala) | |
11 | g.2167483C>T | CA379127522 | TH | c.647G>A (p.Gly216Asp) c.*336G>A (n.*336G>A) c.*367G>A (n.*367G>A) c.728G>A (p.Gly243Asp) c.740G>A (p.Gly247Asp) c.87G>A n.776G>A c.659G>A (p.Gly220Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2167484C>A | CA379127527 | TH | c.646G>T (p.Gly216Cys) c.*335G>T (n.*335G>T) c.*366G>T (n.*366G>T) c.727G>T (p.Gly243Cys) c.739G>T (p.Gly247Cys) c.86G>T n.775G>T c.658G>T (p.Gly220Cys) | gnomAD v4 |
11 | g.2167484C= | CA1948006729 | TH | c.646G= (p.Gly216=) c.*335G= (n.*335G=) c.*366G= (n.*366G=) c.727G= (p.Gly243=) c.739G= (p.Gly247=) c.86G= n.775G= c.658G= (p.Gly220=) | |
11 | g.2167484C>G | CA379127528 | TH | c.646G>C (p.Gly216Arg) c.*335G>C (n.*335G>C) c.*366G>C (n.*366G>C) c.727G>C (p.Gly243Arg) c.739G>C (p.Gly247Arg) c.86G>C n.775G>C c.658G>C (p.Gly220Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2167484C>T | CA5818546 | TH | c.646G>A (p.Gly216Ser) c.*335G>A (n.*335G>A) c.*366G>A (n.*366G>A) c.727G>A (p.Gly243Ser) c.739G>A (p.Gly247Ser) c.86G>A n.775G>A c.658G>A (p.Gly220Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2167485G>A | CA5818547 | TH | c.645C>T (p.His215=) c.*334C>T (n.*334C>T) c.*365C>T (n.*365C>T) c.726C>T (p.His242=) c.738C>T (p.His246=) c.85C>T n.774C>T c.657C>T (p.His219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2167485G>C | CA379127529 | TH | c.645C>G (p.His215Gln) c.*334C>G (n.*334C>G) c.*365C>G (n.*365C>G) c.726C>G (p.His242Gln) c.738C>G (p.His246Gln) c.85C>G n.774C>G c.657C>G (p.His219Gln) | |
11 | g.2167485G= | CA1948006739 | TH | c.645C= (p.His215=) c.*334C= (n.*334C=) c.*365C= (n.*365C=) c.726C= (p.His242=) c.738C= (p.His246=) c.85C= n.774C= c.657C= (p.His219=) | |
11 | g.2167485G>T | CA379127531 | TH | c.645C>A (p.His215Gln) c.*334C>A (n.*334C>A) c.*365C>A (n.*365C>A) c.726C>A (p.His242Gln) c.738C>A (p.His246Gln) c.85C>A n.774C>A c.657C>A (p.His219Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2167486C>A | CA379127534 | TH | c.645-1G>T (n.645-1G>T) c.*334-1G>T (n.*334-1G>T) c.*364G>T (n.*364G>T) c.726-1G>T (n.726-1G>T) c.738-1G>T (n.738-1G>T) c.85-1G>T n.773G>T c.657-1G>T (n.657-1G>T) | gnomAD v4 |
11 | g.2167486C>G | CA379127536 | TH | c.645-1G>C (n.645-1G>C) c.*334-1G>C (n.*334-1G>C) c.*364G>C (n.*364G>C) c.726-1G>C (n.726-1G>C) c.738-1G>C (n.738-1G>C) c.85-1G>C n.773G>C c.657-1G>C (n.657-1G>C) | |
11 | g.2167486C>T | CA379127537 | TH | c.645-1G>A (n.645-1G>A) c.*334-1G>A (n.*334-1G>A) c.*364G>A (n.*364G>A) c.726-1G>A (n.726-1G>A) c.738-1G>A (n.738-1G>A) c.85-1G>A n.773G>A c.657-1G>A (n.657-1G>A) | |
11 | g.2167487T>A | CA379127540 | TH | c.645-2A>T (n.645-2A>T) c.*334-2A>T (n.*334-2A>T) c.*363A>T (n.*363A>T) c.726-2A>T (n.726-2A>T) c.738-2A>T (n.738-2A>T) c.85-2A>T n.772A>T c.657-2A>T (n.657-2A>T) | gnomAD v4 |