Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1985871G>ACA394303667GFERc.236G>A (p.Cys79Tyr)
c.461G>A (p.Cys154Tyr)
n.618G>A
c.264G>A (p.Val88=)
16g.1985871G>CCA394303669GFERc.236G>C (p.Cys79Ser)
c.461G>C (p.Cys154Ser)
n.618G>C
c.264G>C (p.Val88=)
16g.1985871G>TCA394303672GFERc.236G>T (p.Cys79Phe)
c.461G>T (p.Cys154Phe)
n.618G>T
c.264G>T (p.Val88=)
16g.1985872C>ACA394303674GFERc.237C>A (p.Cys79Ter)
c.462C>A (p.Cys154Ter)
n.619C>A
c.265C>A (p.Gln89Lys)
16g.1985872C>GCA394303677GFERc.237C>G (p.Cys79Trp)
c.462C>G (p.Cys154Trp)
n.619C>G
c.265C>G (p.Gln89Glu)
16g.1985872C>TCA394303679GFERc.237C>T (p.Cys79=)
c.462C>T (p.Cys154=)
n.619C>T
c.265C>T (p.Gln89Ter)
 gnomAD v4
16g.1985873A>CCA394303681GFERc.238A>C (p.Arg80=)
c.463A>C (p.Arg155=)
n.620A>C
c.266A>C (p.Gln89Pro)
16g.1985873A>GCA394303682GFERc.238A>G (p.Arg80Gly)
c.463A>G (p.Arg155Gly)
n.620A>G
c.266A>G (p.Gln89Arg)
 gnomAD v4
16g.1985873A>TCA394303685GFERc.238A>T (p.Arg80Trp)
c.463A>T (p.Arg155Trp)
n.620A>T
c.266A>T (p.Gln89Leu)
16g.1985874G>ACA394303687GFERc.239G>A (p.Arg80Lys)
c.464G>A (p.Arg155Lys)
n.621G>A
c.267G>A (p.Gln89=)
 dbSNP
16g.1985874G>CCA394303689GFERc.239G>C (p.Arg80Thr)
c.464G>C (p.Arg155Thr)
n.621G>C
c.267G>C (p.Gln89His)
16g.1985874G=CA2201967696GFERc.239G= (p.Arg80=)
c.464G= (p.Arg155=)
n.621G=
c.267G= (p.Gln89=)
16g.1985874G>TCA394303691GFERc.239G>T (p.Arg80Met)
c.464G>T (p.Arg155Met)
n.621G>T
c.267G>T (p.Gln89His)
16g.1985875G>ACA394303697GFERc.240G>A (p.Arg80=)
c.465G>A (p.Arg155=)
n.622G>A
c.268G>A (p.Glu90Lys)
16g.1985875G>CCA394303696GFERc.240G>C (p.Arg80Ser)
c.465G>C (p.Arg155Ser)
n.622G>C
c.268G>C (p.Glu90Gln)
16g.1985875G>TCA394303693GFERc.240G>T (p.Arg80Ser)
c.465G>T (p.Arg155Ser)
n.622G>T
c.268G>T (p.Glu90Ter)
 gnomAD v4
16g.1985876A>CCA394303700GFERc.241A>C (p.Asn81His)
c.466A>C (p.Asn156His)
n.623A>C
c.269A>C (p.Glu90Ala)
16g.1985876A>GCA394303701GFERc.241A>G (p.Asn81Asp)
c.466A>G (p.Asn156Asp)
n.623A>G
c.269A>G (p.Glu90Gly)
16g.1985876A>TCA394303702GFERc.241A>T (p.Asn81Tyr)
c.466A>T (p.Asn156Tyr)
n.623A>T
c.269A>T (p.Glu90Val)
16g.1985877A>CCA394303704GFERc.242A>C (p.Asn81Thr)
c.467A>C (p.Asn156Thr)
n.624A>C
c.270A>C (p.Glu90Asp)
16g.1985877A>GCA394303706GFERc.242A>G (p.Asn81Ser)
c.467A>G (p.Asn156Ser)
n.624A>G
c.270A>G (p.Glu90=)
16g.1985877A>TCA394303708GFERc.242A>T (p.Asn81Ile)
c.467A>T (p.Asn156Ile)
n.624A>T
c.270A>T (p.Glu90Asp)
16g.1985878C>ACA394303715GFERc.243C>A (p.Asn81Lys)
c.468C>A (p.Asn156Lys)
n.625C>A
c.271C>A (p.Pro91Thr)
16g.1985878C=CA2201967698GFERc.243C= (p.Asn81=)
c.468C= (p.Asn156=)
n.625C=
c.271C= (p.Pro91=)
16g.1985878C>GCA394303713GFERc.243C>G (p.Asn81Lys)
c.468C>G (p.Asn156Lys)
n.625C>G
c.271C>G (p.Pro91Ala)
 dbSNP gnomAD v2
16g.1985878C>TCA394303710GFERc.243C>T (p.Asn81=)
c.468C>T (p.Asn156=)
n.625C>T
c.271C>T (p.Pro91Ser)
 gnomAD v4
16g.1985879C>ACA394303718GFERc.244C>A (p.His82Asn)
c.469C>A (p.His157Asn)
n.626C>A
c.272C>A (p.Pro91Gln)
16g.1985879C>GCA394303720GFERc.244C>G (p.His82Asp)
c.469C>G (p.His157Asp)
n.626C>G
c.272C>G (p.Pro91Arg)
16g.1985879C>TCA394303723GFERc.244C>T (p.His82Tyr)
c.469C>T (p.His157Tyr)
n.626C>T
c.272C>T (p.Pro91Leu)
16g.1985880A>CCA394303727GFERc.245A>C (p.His82Pro)
c.470A>C (p.His157Pro)
n.627A>C
c.273A>C (p.Pro91=)
16g.1985880A>GCA394303729GFERc.245A>G (p.His82Arg)
c.470A>G (p.His157Arg)
n.627A>G
c.273A>G (p.Pro91=)
16g.1985880A>TCA394303732GFERc.245A>T (p.His82Leu)
c.470A>T (p.His157Leu)
n.627A>T
c.273A>T (p.Pro91=)
16g.1985881C>ACA394303735GFERc.246C>A (p.His82Gln)
c.471C>A (p.His157Gln)
n.628C>A
c.274C>A (p.Pro92Thr)
16g.1985881C>GCA394303739GFERc.246C>G (p.His82Gln)
c.471C>G (p.His157Gln)
n.628C>G
c.274C>G (p.Pro92Ala)
 dbSNP
16g.1985881C>TCA394303738GFERc.246C>T (p.His82=)
c.471C>T (p.His157=)
n.628C>T
c.274C>T (p.Pro92Ser)
16g.1985882C>ACA394303742GFERc.247C>A (p.Pro83Thr)
c.472C>A (p.Pro158Thr)
n.629C>A
c.275C>A (p.Pro92His)
16g.1985882C>GCA394303744GFERc.247C>G (p.Pro83Ala)
c.472C>G (p.Pro158Ala)
n.629C>G
c.275C>G (p.Pro92Arg)
16g.1985882C>TCA394303752GFERc.247C>T (p.Pro83Ser)
c.472C>T (p.Pro158Ser)
n.629C>T
c.275C>T (p.Pro92Leu)
16g.1985883C>ACA394303755GFERc.248C>A (p.Pro83Gln)
c.473C>A (p.Pro158Gln)
n.630C>A
c.276C>A (p.Pro92=)
16g.1985883C>GCA394303758GFERc.248C>G (p.Pro83Arg)
c.473C>G (p.Pro158Arg)
n.630C>G
c.276C>G (p.Pro92=)
16g.1985883C>TCA394303762GFERc.248C>T (p.Pro83Leu)
c.473C>T (p.Pro158Leu)
n.630C>T
c.276C>T (p.Pro92=)
16g.1985884A>CCA492950125GFERc.249A>C (p.Pro83=)
c.474A>C (p.Pro158=)
n.631A>C
c.277A>C (p.Arg93=)
16g.1985884A>GCA394303765GFERc.249A>G (p.Pro83=)
c.474A>G (p.Pro158=)
n.631A>G
c.277A>G (p.Arg93Gly)
16g.1985884A>TCA394303767GFERc.249A>T (p.Pro83=)
c.474A>T (p.Pro158=)
n.631A>T
c.277A>T (p.Arg93Ter)
16g.1985885G>ACA394303770GFERc.250G>A (p.Asp84Asn)
c.475G>A (p.Asp159Asn)
n.632G>A
c.278G>A (p.Arg93Lys)
16g.1985885G>CCA394303773GFERc.250G>C (p.Asp84His)
c.475G>C (p.Asp159His)
n.632G>C
c.278G>C (p.Arg93Thr)
16g.1985885G>TCA394303775GFERc.250G>T (p.Asp84Tyr)
c.475G>T (p.Asp159Tyr)
n.632G>T
c.278G>T (p.Arg93Ile)
16g.1985886A>CCA394303784GFERc.251A>C (p.Asp84Ala)
c.476A>C (p.Asp159Ala)
n.633A>C
c.279A>C (p.Arg93Ser)
16g.1985886A>GCA394303789GFERc.251A>G (p.Asp84Gly)
c.476A>G (p.Asp159Gly)
n.633A>G
c.279A>G (p.Arg93=)
16g.1985886A>TCA394303786GFERc.251A>T (p.Asp84Val)
c.476A>T (p.Asp159Val)
n.633A>T
c.279A>T (p.Arg93Ser)
16g.1985887C>ACA394303791GFERc.252C>A (p.Asp84Glu)
c.477C>A (p.Asp159Glu)
n.634C>A
c.280C>A (p.His94Asn)
 dbSNP
16g.1985887C=CA2201967702GFERc.252C= (p.Asp84=)
c.477C= (p.Asp159=)
n.634C=
c.280C= (p.His94=)
16g.1985887C>GCA394303793GFERc.252C>G (p.Asp84Glu)
c.477C>G (p.Asp159Glu)
n.634C>G
c.280C>G (p.His94Asp)
16g.1985887C>TCA394303795GFERc.252C>T (p.Asp84=)
c.477C>T (p.Asp159=)
n.634C>T
c.280C>T (p.His94Tyr)
 ClinVar dbSNP
16g.1985888A>CCA394303799GFERc.253A>C (p.Thr85Pro)
c.478A>C (p.Thr160Pro)
n.635A>C
c.281A>C (p.His94Pro)
16g.1985888A>GCA394303806GFERc.253A>G (p.Thr85Ala)
c.478A>G (p.Thr160Ala)
n.635A>G
c.281A>G (p.His94Arg)
16g.1985888A>TCA394303807GFERc.253A>T (p.Thr85Ser)
c.478A>T (p.Thr160Ser)
n.635A>T
c.281A>T (p.His94Leu)
16g.1985889C>ACA394303809GFERc.254C>A (p.Thr85Asn)
c.479C>A (p.Thr160Asn)
n.636C>A
c.282C>A (p.His94Gln)
16g.1985889C>GCA394303810GFERc.254C>G (p.Thr85Ser)
c.479C>G (p.Thr160Ser)
n.636C>G
c.282C>G (p.His94Gln)
16g.1985889C>TCA394303813GFERc.254C>T (p.Thr85Ile)
c.479C>T (p.Thr160Ile)
n.636C>T
c.282C>T (p.His94=)
16g.1985890C>ACA394303818GFERc.255C>A (p.Thr85=)
c.480C>A (p.Thr160=)
n.637C>A
c.283C>A (p.Pro95Thr)
16g.1985890C>GCA394303822GFERc.255C>G (p.Thr85=)
c.480C>G (p.Thr160=)
n.637C>G
c.283C>G (p.Pro95Ala)
16g.1985890C>TCA394303831GFERc.255C>T (p.Thr85=)
c.480C>T (p.Thr160=)
n.637C>T
c.283C>T (p.Pro95Ser)
16g.1985891C>ACA394303837GFERc.256C>A (p.Arg86Ser)
c.481C>A (p.Arg161Ser)
n.638C>A
c.284C>A (p.Pro95Gln)
 gnomAD v4
16g.1985891C=CA2201967705GFERc.256C= (p.Arg86=)
c.481C= (p.Arg161=)
n.638C=
c.284C= (p.Pro95=)
16g.1985891C>GCA394303834GFERc.256C>G (p.Arg86Gly)
c.481C>G (p.Arg161Gly)
n.638C>G
c.284C>G (p.Pro95Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.1985891C>TCA7826070GFERc.256C>T (p.Arg86Cys)
c.481C>T (p.Arg161Cys)
n.638C>T
c.284C>T (p.Pro95Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985892G>ACA7826071GFERc.257G>A (p.Arg86His)
c.482G>A (p.Arg161His)
n.639G>A
c.285G>A (p.Pro95=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985892G>CCA394303843GFERc.257G>C (p.Arg86Pro)
c.482G>C (p.Arg161Pro)
n.639G>C
c.285G>C (p.Pro95=)
 dbSNP
16g.1985892G=CA2201967707GFERc.257G= (p.Arg86=)
c.482G= (p.Arg161=)
n.639G=
c.285G= (p.Pro95=)
16g.1985892G>TCA394303845GFERc.257G>T (p.Arg86Leu)
c.482G>T (p.Arg161Leu)
n.639G>T
c.285G>T (p.Pro95=)
16g.1985893C>ACA394303846GFERc.258C>A (p.Arg86=)
c.483C>A (p.Arg161=)
n.640C>A
c.286C>A (p.His96Asn)
16g.1985893C>GCA394303848GFERc.258C>G (p.Arg86=)
c.483C>G (p.Arg161=)
n.640C>G
c.286C>G (p.His96Asp)
16g.1985893C>TCA394303850GFERc.258C>T (p.Arg86=)
c.483C>T (p.Arg161=)
n.640C>T
c.286C>T (p.His96Tyr)
 gnomAD v4
16g.1985894A=CA2201967709GFERc.259A= (p.Thr87=)
c.484A= (p.Thr162=)
n.641A=
c.287A= (p.His96=)
16g.1985894A>CCA394303853GFERc.259A>C (p.Thr87Pro)
c.484A>C (p.Thr162Pro)
n.641A>C
c.287A>C (p.His96Pro)
16g.1985894A>GCA394303855GFERc.259A>G (p.Thr87Ala)
c.484A>G (p.Thr162Ala)
n.641A>G
c.287A>G (p.His96Arg)
 dbSNP
16g.1985894A>TCA394303857GFERc.259A>T (p.Thr87Ser)
c.484A>T (p.Thr162Ser)
n.641A>T
c.287A>T (p.His96Leu)
 gnomAD v4
16g.1985895C>ACA394303859GFERc.260C>A (p.Thr87Asn)
c.485C>A (p.Thr162Asn)
n.642C>A
c.288C>A (p.His96Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.1985895C=CA2201967710GFERc.260C= (p.Thr87=)
c.485C= (p.Thr162=)
n.642C=
c.288C= (p.His96=)
16g.1985895C>GCA394303862GFERc.260C>G (p.Thr87Ser)
c.485C>G (p.Thr162Ser)
n.642C>G
c.288C>G (p.His96Gln)
16g.1985895C>TCA394303864GFERc.260C>T (p.Thr87Ile)
c.485C>T (p.Thr162Ile)
n.642C>T
c.288C>T (p.His96=)
 COSMIC
16g.1985896C>ACA394303871GFERc.261C>A (p.Thr87=)
c.486C>A (p.Thr162=)
n.643C>A
c.289C>A (p.Pro97Thr)
16g.1985896C=CA2201967712GFERc.261C= (p.Thr87=)
c.486C= (p.Thr162=)
n.643C=
c.289C= (p.Pro97=)
16g.1985896C>GCA394303873GFERc.261C>G (p.Thr87=)
c.486C>G (p.Thr162=)
n.643C>G
c.289C>G (p.Pro97Ala)
16g.1985896C>TCA394303869GFERc.261C>T (p.Thr87=)
c.486C>T (p.Thr162=)
n.643C>T
c.289C>T (p.Pro97Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985897C>ACA394303877GFERc.262C>A (p.Arg88=)
c.487C>A (p.Arg163=)
n.644C>A
c.290C>A (p.Pro97Gln)
 gnomAD v4
16g.1985897C=CA2201967713GFERc.262C= (p.Arg88=)
c.487C= (p.Arg163=)
n.644C=
c.290C= (p.Pro97=)
16g.1985897C>GCA394303875GFERc.262C>G (p.Arg88Gly)
c.487C>G (p.Arg163Gly)
n.644C>G
c.290C>G (p.Pro97Arg)
 gnomAD v4
16g.1985897C>TCA7826072GFERc.262C>T (p.Arg88Trp)
c.487C>T (p.Arg163Trp)
n.644C>T
c.290C>T (p.Pro97Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.1985898G>ACA7826073GFERc.263G>A (p.Arg88Gln)
c.488G>A (p.Arg163Gln)
n.645G>A
c.291G>A (p.Pro97=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985898G>CCA394303883GFERc.263G>C (p.Arg88Pro)
c.488G>C (p.Arg163Pro)
n.645G>C
c.291G>C (p.Pro97=)
 gnomAD v4
16g.1985898G=CA2201967715GFERc.263G= (p.Arg88=)
c.488G= (p.Arg163=)
n.645G=
c.291G= (p.Pro97=)
16g.1985898G>TCA394303889GFERc.263G>T (p.Arg88Leu)
c.488G>T (p.Arg163Leu)
n.645G>T
c.291G>T (p.Pro97=)
 dbSNP gnomAD v2 gnomAD v4
16g.1985899G>ACA394303900GFERc.264G>A (p.Arg88=)
c.489G>A (p.Arg163=)
n.646G>A
c.292G>A (p.Gly98Ser)
16g.1985899G>CCA394303896GFERc.264G>C (p.Arg88=)
c.489G>C (p.Arg163=)
n.646G>C
c.292G>C (p.Gly98Arg)
16g.1985899G>TCA394303894GFERc.264G>T (p.Arg88=)
c.489G>T (p.Arg163=)
n.646G>T
c.292G>T (p.Gly98Cys)
16g.1985900G>ACA394303906GFERc.265G>A (p.Ala89Thr)
c.490G>A (p.Ala164Thr)
n.647G>A
c.293G>A (p.Gly98Asp)
16g.1985900G>CCA394303908GFERc.265G>C (p.Ala89Pro)
c.490G>C (p.Ala164Pro)
n.647G>C
c.293G>C (p.Gly98Ala)
16g.1985900G>TCA394303910GFERc.265G>T (p.Ala89Ser)
c.490G>T (p.Ala164Ser)
n.647G>T
c.293G>T (p.Gly98Val)
16g.1985901C>ACA394303911GFERc.266C>A (p.Ala89Glu)
c.491C>A (p.Ala164Glu)
n.648C>A
c.294C>A (p.Gly98=)
16g.1985901C=CA2201967717GFERc.266C= (p.Ala89=)
c.491C= (p.Ala164=)
n.648C=
c.294C= (p.Gly98=)
16g.1985901C>GCA394303913GFERc.266C>G (p.Ala89Gly)
c.491C>G (p.Ala164Gly)
n.648C>G
c.294C>G (p.Gly98=)
16g.1985901C>TCA394303917GFERc.266C>T (p.Ala89Val)
c.491C>T (p.Ala164Val)
n.648C>T
c.294C>T (p.Gly98=)
 dbSNP gnomAD v2 gnomAD v4
16g.1985902A>CCA394303926GFERc.267A>C (p.Ala89=)
c.492A>C (p.Ala164=)
n.649A>C
c.295A>C (p.Met99Leu)
 dbSNP
16g.1985902A>GCA394303919GFERc.267A>G (p.Ala89=)
c.492A>G (p.Ala164=)
n.649A>G
c.295A>G (p.Met99Val)
16g.1985902A>TCA394303921GFERc.267A>T (p.Ala89=)
c.492A>T (p.Ala164=)
n.649A>T
c.295A>T (p.Met99Leu)
16g.1985903T>ACA394303928GFERc.268T>A (p.Cys90Ser)
c.493T>A (p.Cys165Ser)
n.650T>A
c.296T>A (p.Met99Lys)
16g.1985903T>CCA394303930GFERc.268T>C (p.Cys90Arg)
c.493T>C (p.Cys165Arg)
n.650T>C
c.296T>C (p.Met99Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.1985903T>GCA394303932GFERc.268T>G (p.Cys90Gly)
c.493T>G (p.Cys165Gly)
n.650T>G
c.296T>G (p.Met99Arg)
16g.1985903T=CA2201967719GFERc.268T= (p.Cys90=)
c.493T= (p.Cys165=)
n.650T=
c.296T= (p.Met99=)
16g.1985904G>ACA394303938GFERc.269G>A (p.Cys90Tyr)
c.494G>A (p.Cys165Tyr)
n.651G>A
c.297G>A (p.Met99Ile)
16g.1985904G>CCA394303940GFERc.269G>C (p.Cys90Ser)
c.494G>C (p.Cys165Ser)
n.651G>C
c.297G>C (p.Met99Ile)
16g.1985904G>TCA394303943GFERc.269G>T (p.Cys90Phe)
c.494G>T (p.Cys165Phe)
n.651G>T
c.297G>T (p.Met99Ile)
16g.1985905C>ACA394303947GFERc.270C>A (p.Cys90Ter)
c.495C>A (p.Cys165Ter)
n.652C>A
c.298C>A (p.Leu100Ile)
16g.1985905C=CA2201967721GFERc.270C= (p.Cys90=)
c.495C= (p.Cys165=)
n.652C=
c.298C= (p.Leu100=)
16g.1985905C>GCA394303948GFERc.270C>G (p.Cys90Trp)
c.495C>G (p.Cys165Trp)
n.652C>G
c.298C>G (p.Leu100Val)
16g.1985905C>TCA394303950GFERc.270C>T (p.Cys90=)
c.495C>T (p.Cys165=)
n.652C>T
c.298C>T (p.Leu100Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.1985906T>ACA394303952GFERc.271T>A (p.Phe91Ile)
c.496T>A (p.Phe166Ile)
n.653T>A
c.299T>A (p.Leu100His)
16g.1985906T>CCA7826074GFERc.271T>C (p.Phe91Leu)
c.496T>C (p.Phe166Leu)
n.653T>C
c.299T>C (p.Leu100Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985906T>GCA394303957GFERc.271T>G (p.Phe91Val)
c.496T>G (p.Phe166Val)
n.653T>G
c.299T>G (p.Leu100Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985906T=CA2201967723GFERc.271T= (p.Phe91=)
c.496T= (p.Phe166=)
n.653T=
c.299T= (p.Leu100=)
16g.1985907T>ACA394303958GFERc.272T>A (p.Phe91Tyr)
c.497T>A (p.Phe166Tyr)
n.654T>A
c.300T>A (p.Leu100=)
16g.1985907T>CCA394303960GFERc.272T>C (p.Phe91Ser)
c.497T>C (p.Phe166Ser)
n.654T>C
c.300T>C (p.Leu100=)
16g.1985907T>GCA394303959GFERc.272T>G (p.Phe91Cys)
c.497T>G (p.Phe166Cys)
n.654T>G
c.300T>G (p.Leu100=)
16g.1985908C>ACA394303962GFERc.273C>A (p.Phe91Leu)
c.498C>A (p.Phe166Leu)
n.655C>A
c.301C>A (p.His101Asn)
16g.1985908C>GCA394303964GFERc.273C>G (p.Phe91Leu)
c.498C>G (p.Phe166Leu)
n.655C>G
c.301C>G (p.His101Asp)
16g.1985908C>TCA394303966GFERc.273C>T (p.Phe91=)
c.498C>T (p.Phe166=)
n.655C>T
c.301C>T (p.His101Tyr)
16g.1985909A>CCA394303968GFERc.274A>C (p.Thr92Pro)
c.499A>C (p.Thr167Pro)
n.656A>C
c.302A>C (p.His101Pro)
16g.1985909A>GCA394303970GFERc.274A>G (p.Thr92Ala)
c.499A>G (p.Thr167Ala)
n.656A>G
c.302A>G (p.His101Arg)
16g.1985909A>TCA394303972GFERc.274A>T (p.Thr92Ser)
c.499A>T (p.Thr167Ser)
n.656A>T
c.302A>T (p.His101Leu)
16g.1985909dupCA2631092443GFERc.274dup (p.Thr92AsnfsTer10)
c.499dup (p.Thr167AsnfsTer10)
n.656dup
c.302dup (p.His101GlnfsTer12)
 gnomAD v4
16g.1985910C>ACA394303974GFERc.275C>A (p.Thr92Lys)
c.500C>A (p.Thr167Lys)
n.657C>A
c.303C>A (p.His101Gln)
16g.1985910C=CA2201967726GFERc.275C= (p.Thr92=)
c.500C= (p.Thr167=)
n.657C=
c.303C= (p.His101=)
16g.1985910C>GCA394303975GFERc.275C>G (p.Thr92Arg)
c.500C>G (p.Thr167Arg)
n.657C>G
c.303C>G (p.His101Gln)
16g.1985910C>TCA394303976GFERc.275C>T (p.Thr92Ile)
c.500C>T (p.Thr167Ile)
n.657C>T
c.303C>T (p.His101=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985911A=CA2201967727GFERc.276A= (p.Thr92=)
c.501A= (p.Thr167=)
n.658A=
c.304A= (p.Thr102=)
16g.1985911A>CCA394303979GFERc.276A>C (p.Thr92=)
c.501A>C (p.Thr167=)
n.658A>C
c.304A>C (p.Thr102Pro)
 gnomAD v4
16g.1985911A>GCA394303980GFERc.276A>G (p.Thr92=)
c.501A>G (p.Thr167=)
n.658A>G
c.304A>G (p.Thr102Ala)
 ClinVar dbSNP
16g.1985911A>TCA394303981GFERc.276A>T (p.Thr92=)
c.501A>T (p.Thr167=)
n.658A>T
c.304A>T (p.Thr102Ser)
16g.1985912C>ACA394303986GFERc.277C>A (p.Gln93Lys)
c.502C>A (p.Gln168Lys)
n.659C>A
c.305C>A (p.Thr102Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.1985912C=CA2201967729GFERc.277C= (p.Gln93=)
c.502C= (p.Gln168=)
n.659C=
c.305C= (p.Thr102=)
16g.1985912C>GCA394303984GFERc.277C>G (p.Gln93Glu)
c.502C>G (p.Gln168Glu)
n.659C>G
c.305C>G (p.Thr102Arg)
16g.1985912C>TCA7826075GFERc.277C>T (p.Gln93Ter)
c.502C>T (p.Gln168Ter)
n.659C>T
c.305C>T (p.Thr102Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985913A>CCA394303988GFERc.278A>C (p.Gln93Pro)
c.503A>C (p.Gln168Pro)
n.660A>C
c.306A>C (p.Thr102=)
16g.1985913A>GCA394303990GFERc.278A>G (p.Gln93Arg)
c.503A>G (p.Gln168Arg)
n.660A>G
c.306A>G (p.Thr102=)
16g.1985913A>TCA394303992GFERc.278A>T (p.Gln93Leu)
c.503A>T (p.Gln168Leu)
n.660A>T
c.306A>T (p.Thr102=)
16g.1985914G>ACA394303993GFERc.279G>A (p.Gln93=)
c.504G>A (p.Gln168=)
n.661G>A
c.307G>A (p.Val103Met)
 gnomAD v4
16g.1985914G>CCA394303994GFERc.279G>C (p.Gln93His)
c.504G>C (p.Gln168His)
n.661G>C
c.307G>C (p.Val103Leu)
 gnomAD v4
16g.1985914G>TCA394303997GFERc.279G>T (p.Gln93His)
c.504G>T (p.Gln168His)
n.661G>T
c.307G>T (p.Val103Leu)
 gnomAD v4
16g.1985915T>ACA394303999GFERc.280T>A (p.Trp94Arg)
c.505T>A (p.Trp169Arg)
n.662T>A
c.308T>A (p.Val103Glu)
16g.1985915T>CCA394304001GFERc.280T>C (p.Trp94Arg)
c.505T>C (p.Trp169Arg)
n.662T>C
c.308T>C (p.Val103Ala)
 gnomAD v4
16g.1985915T>GCA394304003GFERc.280T>G (p.Trp94Gly)
c.505T>G (p.Trp169Gly)
n.662T>G
c.308T>G (p.Val103Gly)
16g.1985916G>ACA394304006GFERc.281G>A (p.Trp94Ter)
c.506G>A (p.Trp169Ter)
n.663G>A
c.309G>A (p.Val103=)
 COSMIC
16g.1985916G>CCA394304008GFERc.281G>C (p.Trp94Ser)
c.506G>C (p.Trp169Ser)
n.663G>C
c.309G>C (p.Val103=)
 gnomAD v4
16g.1985916G>TCA394304010GFERc.281G>T (p.Trp94Leu)
c.506G>T (p.Trp169Leu)
n.663G>T
c.309G>T (p.Val103=)
16g.1985917G>ACA394304013GFERc.282G>A (p.Trp94Ter)
c.507G>A (p.Trp169Ter)
n.664G>A
c.310G>A (p.Ala104Thr)
 gnomAD v4
16g.1985917G>CCA394304015GFERc.282G>C (p.Trp94Cys)
c.507G>C (p.Trp169Cys)
n.664G>C
c.310G>C (p.Ala104Pro)
16g.1985917G>TCA394304011GFERc.282G>T (p.Trp94Cys)
c.507G>T (p.Trp169Cys)
n.664G>T
c.310G>T (p.Ala104Ser)
16g.1985918C>ACA394304019GFERc.283C>A (p.Leu95Met)
c.508C>A (p.Leu170Met)
n.665C>A
c.311C>A (p.Ala104Asp)
16g.1985918C>GCA394304017GFERc.283C>G (p.Leu95Val)
c.508C>G (p.Leu170Val)
n.665C>G
c.311C>G (p.Ala104Gly)
16g.1985918C>TCA394304020GFERc.283C>T (p.Leu95=)
c.508C>T (p.Leu170=)
n.665C>T
c.311C>T (p.Ala104Val)
 gnomAD v4
16g.1985919T>ACA394304022GFERc.284T>A (p.Leu95Gln)
c.509T>A (p.Leu170Gln)
n.666T>A
c.312T>A (p.Ala104=)
16g.1985919T>CCA394304023GFERc.284T>C (p.Leu95Pro)
c.509T>C (p.Leu170Pro)
n.666T>C
c.312T>C (p.Ala104=)
16g.1985919T>GCA394304024GFERc.284T>G (p.Leu95Arg)
c.509T>G (p.Leu170Arg)
n.666T>G
c.312T>G (p.Ala104=)
16g.1985920G>ACA394304025GFERc.285G>A (p.Leu95=)
c.510G>A (p.Leu170=)
n.667G>A
c.313G>A (p.Val105Met)
 dbSNP gnomAD v2 gnomAD v4
16g.1985920G>CCA394304027GFERc.285G>C (p.Leu95=)
c.510G>C (p.Leu170=)
n.667G>C
c.313G>C (p.Val105Leu)
 ClinVar dbSNP
16g.1985920G=CA2201967732GFERc.285G= (p.Leu95=)
c.510G= (p.Leu170=)
n.667G=
c.313G= (p.Val105=)
16g.1985920G>TCA394304029GFERc.285G>T (p.Leu95=)
c.510G>T (p.Leu170=)
n.667G>T
c.313G>T (p.Val105Leu)
 gnomAD v4
16g.1985921T>ACA394304031GFERc.286T>A (p.Cys96Ser)
c.511T>A (p.Cys171Ser)
n.668T>A
c.314T>A (p.Val105Glu)
16g.1985921T>CCA394304032GFERc.286T>C (p.Cys96Arg)
c.511T>C (p.Cys171Arg)
n.668T>C
c.314T>C (p.Val105Ala)
16g.1985921T>GCA276773488GFERc.286T>G (p.Cys96Gly)
c.511T>G (p.Cys171Gly)
n.668T>G
c.314T>G (p.Val105Gly)
 dbSNP
16g.1985921T=CA2201967735GFERc.286T= (p.Cys96=)
c.511T= (p.Cys171=)
n.668T=
c.314T= (p.Val105=)
16g.1985922G>ACA394304034GFERc.287G>A (p.Cys96Tyr)
c.512G>A (p.Cys171Tyr)
n.669G>A
c.315G>A (p.Val105=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985922G>CCA394304036GFERc.287G>C (p.Cys96Ser)
c.512G>C (p.Cys171Ser)
n.669G>C
c.315G>C (p.Val105=)
16g.1985922G=CA2201967737GFERc.287G= (p.Cys96=)
c.512G= (p.Cys171=)
n.669G=
c.315G= (p.Val105=)
16g.1985922G>TCA394304038GFERc.287G>T (p.Cys96Phe)
c.512G>T (p.Cys171Phe)
n.669G>T
c.315G>T (p.Val105=)
16g.1985923C>ACA394304044GFERc.288C>A (p.Cys96Ter)
c.513C>A (p.Cys171Ter)
n.670C>A
c.316C>A (p.Pro106Thr)
16g.1985923C>GCA394304042GFERc.288C>G (p.Cys96Trp)
c.513C>G (p.Cys171Trp)
n.670C>G
c.316C>G (p.Pro106Ala)
16g.1985923C>TCA394304039GFERc.288C>T (p.Cys96=)
c.513C>T (p.Cys171=)
n.670C>T
c.316C>T (p.Pro106Ser)
16g.1985924C>ACA322208GFERc.289C>A (p.His97Asn)
c.514C>A (p.His172Asn)
n.671C>A
c.317C>A (p.Pro106Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985924C=CA2201967739GFERc.289C= (p.His97=)
c.514C= (p.His172=)
n.671C=
c.317C= (p.Pro106=)
16g.1985924C>GCA394304047GFERc.289C>G (p.His97Asp)
c.514C>G (p.His172Asp)
n.671C>G
c.317C>G (p.Pro106Arg)
16g.1985924C>TCA394304049GFERc.289C>T (p.His97Tyr)
c.514C>T (p.His172Tyr)
n.671C>T
c.317C>T (p.Pro106Leu)
16g.1985925A=CA2201967741GFERc.290A= (p.His97=)
c.515A= (p.His172=)
n.672A=
c.318A= (p.Pro106=)
16g.1985925A>CCA394304050GFERc.290A>C (p.His97Pro)
c.515A>C (p.His172Pro)
n.672A>C
c.318A>C (p.Pro106=)
 dbSNP
16g.1985925A>GCA394304053GFERc.290A>G (p.His97Arg)
c.515A>G (p.His172Arg)
n.672A>G
c.318A>G (p.Pro106=)
16g.1985925A>TCA394304055GFERc.290A>T (p.His97Leu)
c.515A>T (p.His172Leu)
n.672A>T
c.318A>T (p.Pro106=)
16g.1985926C>ACA394304056GFERc.291C>A (p.His97Gln)
c.516C>A (p.His172Gln)
n.673C>A
c.319C>A (p.Pro107Thr)
16g.1985926C=CA2201967743GFERc.291C= (p.His97=)
c.516C= (p.His172=)
n.673C=
c.319C= (p.Pro107=)
16g.1985926C>GCA394304061GFERc.291C>G (p.His97Gln)
c.516C>G (p.His172Gln)
n.673C>G
c.319C>G (p.Pro107Ala)
16g.1985926C>TCA7826076GFERc.291C>T (p.His97=)
c.516C>T (p.His172=)
n.673C>T
c.319C>T (p.Pro107Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985927C>ACA394304064GFERc.292C>A (p.Leu98Met)
c.517C>A (p.Leu173Met)
n.674C>A
c.320C>A (p.Pro107His)
16g.1985927C=CA2201967744GFERc.292C= (p.Leu98=)
c.517C= (p.Leu173=)
n.674C=
c.320C= (p.Pro107=)
16g.1985927C>GCA276773501GFERc.292C>G (p.Leu98Val)
c.517C>G (p.Leu173Val)
n.674C>G
c.320C>G (p.Pro107Arg)
 dbSNP
16g.1985927C>TCA394304068GFERc.292C>T (p.Leu98=)
c.517C>T (p.Leu173=)
n.674C>T
c.320C>T (p.Pro107Leu)
16g.1985928T>ACA394304072GFERc.293T>A (p.Leu98Gln)
c.518T>A (p.Leu173Gln)
n.675T>A
c.321T>A (p.Pro107=)
 COSMIC
16g.1985928T>CCA394304070GFERc.293T>C (p.Leu98Pro)
c.518T>C (p.Leu173Pro)
n.675T>C
c.321T>C (p.Pro107=)
16g.1985928T>GCA394304069GFERc.293T>G (p.Leu98Arg)
c.518T>G (p.Leu173Arg)
n.675T>G
c.321T>G (p.Pro107=)
16g.1985929G>ACA394304078GFERc.294G>A (p.Leu98=)
c.519G>A (p.Leu173=)
n.676G>A
c.322G>A (p.Ala108Thr)
 gnomAD v4
16g.1985929G>CCA394304080GFERc.294G>C (p.Leu98=)
c.519G>C (p.Leu173=)
n.676G>C
c.322G>C (p.Ala108Pro)
 dbSNP gnomAD v4
16g.1985929G=CA2201967746GFERc.294G= (p.Leu98=)
c.519G= (p.Leu173=)
n.676G=
c.322G= (p.Ala108=)
16g.1985929G>TCA394304090GFERc.294G>T (p.Leu98=)
c.519G>T (p.Leu173=)
n.676G>T
c.322G>T (p.Ala108Ser)
16g.1985930C>ACA394304093GFERc.295C>A (p.His99Asn)
c.520C>A (p.His174Asn)
n.677C>A
c.323C>A (p.Ala108Glu)
16g.1985930C=CA2201967748GFERc.295C= (p.His99=)
c.520C= (p.His174=)
n.677C=
c.323C= (p.Ala108=)
16g.1985930C>GCA7826077GFERc.295C>G (p.His99Asp)
c.520C>G (p.His174Asp)
n.677C>G
c.323C>G (p.Ala108Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985930C>TCA394304103GFERc.295C>T (p.His99Tyr)
c.520C>T (p.His174Tyr)
n.677C>T
c.323C>T (p.Ala108Val)
 gnomAD v4
16g.1985931A=CA2201967750GFERc.296A= (p.His99=)
c.521A= (p.His174=)
n.678A=
c.324A= (p.Ala108=)
16g.1985931A>CCA394304111GFERc.296A>C (p.His99Pro)
c.521A>C (p.His174Pro)
n.678A>C
c.324A>C (p.Ala108=)
16g.1985931A>GCA394304109GFERc.296A>G (p.His99Arg)
c.521A>G (p.His174Arg)
n.678A>G
c.324A>G (p.Ala108=)
 dbSNP gnomAD v2 gnomAD v4
16g.1985931A>TCA394304107GFERc.296A>T (p.His99Leu)
c.521A>T (p.His174Leu)
n.678A>T
c.324A>T (p.Ala108=)
16g.1985932C>ACA394304112GFERc.297C>A (p.His99Gln)
c.522C>A (p.His174Gln)
n.679C>A
c.325C>A (p.Gln109Lys)
16g.1985932C=CA2201967751GFERc.297C= (p.His99=)
c.522C= (p.His174=)
n.679C=
c.325C= (p.Gln109=)
16g.1985932C>GCA394304115GFERc.297C>G (p.His99Gln)
c.522C>G (p.His174Gln)
n.679C>G
c.325C>G (p.Gln109Glu)
16g.1985932C>TCA7826078GFERc.297C>T (p.His99=)
c.522C>T (p.His174=)
n.679C>T
c.325C>T (p.Gln109Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985933A=CA2201967753GFERc.298A= (p.Asn100=)
c.523A= (p.Asn175=)
n.680A=
c.326A= (p.Gln109=)
16g.1985933A>CCA394304121GFERc.298A>C (p.Asn100His)
c.523A>C (p.Asn175His)
n.680A>C
c.326A>C (p.Gln109Pro)
16g.1985933A>GCA394304133GFERc.298A>G (p.Asn100Asp)
c.523A>G (p.Asn175Asp)
n.680A>G
c.326A>G (p.Gln109Arg)
 dbSNP gnomAD v4
16g.1985933A>TCA394304136GFERc.298A>T (p.Asn100Tyr)
c.523A>T (p.Asn175Tyr)
n.680A>T
c.326A>T (p.Gln109Leu)
16g.1985934A=CA2201967755GFERc.299A= (p.Asn100=)
c.524A= (p.Asn175=)
n.681A=
c.327A= (p.Gln109=)
16g.1985934A>CCA394304138GFERc.299A>C (p.Asn100Thr)
c.524A>C (p.Asn175Thr)
n.681A>C
c.327A>C (p.Gln109His)
16g.1985934A>GCA7826079GFERc.299A>G (p.Asn100Ser)
c.524A>G (p.Asn175Ser)
n.681A>G
c.327A>G (p.Gln109=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1985934A>TCA394304141GFERc.299A>T (p.Asn100Ile)
c.524A>T (p.Asn175Ile)
n.681A>T
c.327A>T (p.Gln109His)
16g.1985935T>ACA394304151GFERc.300T>A (p.Asn100Lys)
c.525T>A (p.Asn175Lys)
n.682T>A
c.328T>A (p.Ter110Arg)
16g.1985935T>CCA394304152GFERc.300T>C (p.Asn100=)
c.525T>C (p.Asn175=)
n.682T>C
c.328T>C (p.Ter110Arg)
 gnomAD v4
16g.1985935T>GCA394304155GFERc.300T>G (p.Asn100Lys)
c.525T>G (p.Asn175Lys)
n.682T>G
c.328T>G (p.Ter110Gly)
16g.1985936G>ACA394304158GFERc.301G>A (p.Glu101Lys)
c.526G>A (p.Glu176Lys)
n.683G>A
c.329G>A (p.Ter110=)
16g.1985936G>CCA394304159GFERc.301G>C (p.Glu101Gln)
c.526G>C (p.Glu176Gln)
n.683G>C
c.329G>C (p.Ter110Ser)
16g.1985936G=CA2201967756GFERc.301G= (p.Glu101=)
c.526G= (p.Glu176=)
n.683G=
c.329G= (p.Ter110=)
16g.1985936G>TCA7826080GFERc.301G>T (p.Glu101Ter)
c.526G>T (p.Glu176Ter)
n.683G>T
c.329G>T (p.Ter110Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985937A=CA2201967758GFERc.302A= (p.Glu101=)
c.527A= (p.Glu176=)
n.684A=
c.330A= (p.Ter110=)
16g.1985937A>CCA394304166GFERc.302A>C (p.Glu101Ala)
c.527A>C (p.Glu176Ala)
n.684A>C
c.330A>C (p.Ter110Cys)
16g.1985937A>GCA394304168GFERc.302A>G (p.Glu101Gly)
c.527A>G (p.Glu176Gly)
n.684A>G
c.330A>G (p.Ter110Trp)
 dbSNP gnomAD v3 gnomAD v4
16g.1985937A>TCA394304171GFERc.302A>T (p.Glu101Val)
c.527A>T (p.Glu176Val)
n.684A>T
c.330A>T (p.Ter110Cys)
16g.1985938A=CA2201967759GFERc.303A= (p.Glu101=)
c.528A= (p.Glu176=)
n.685A=
c.*1A= (n.*1A=)
16g.1985938A>CCA276773510GFERc.303A>C (p.Glu101Asp)
c.528A>C (p.Glu176Asp)
n.685A>C
c.*1A>C (n.*1A>C)
 dbSNP
16g.1985938A>GCA492950182GFERc.303A>G (p.Glu101=)
c.528A>G (p.Glu176=)
n.685A>G
c.*1A>G (n.*1A>G)
16g.1985938A>TCA394304176GFERc.303A>T (p.Glu101Asp)
c.528A>T (p.Glu176Asp)
n.685A>T
c.*1A>T (n.*1A>T)
16g.1985939G>ACA394304183GFERc.304G>A (p.Val102Met)
c.529G>A (p.Val177Met)
n.686G>A
c.*2G>A (n.*2G>A)
 dbSNP gnomAD v2
16g.1985939G>CCA394304188GFERc.304G>C (p.Val102Leu)
c.529G>C (p.Val177Leu)
n.686G>C
c.*2G>C (n.*2G>C)
 dbSNP gnomAD v4
16g.1985939G=CA2201967761GFERc.304G= (p.Val102=)
c.529G= (p.Val177=)
n.686G=
c.*2G= (n.*2G=)
16g.1985939G>TCA394304184GFERc.304G>T (p.Val102Leu)
c.529G>T (p.Val177Leu)
n.686G>T
c.*2G>T (n.*2G>T)
16g.1985940T>ACA394304191GFERc.305T>A (p.Val102Glu)
c.530T>A (p.Val177Glu)
n.687T>A
c.*3T>A (n.*3T>A)
 dbSNP gnomAD v4
16g.1985940T>CCA394304194GFERc.305T>C (p.Val102Ala)
c.530T>C (p.Val177Ala)
n.687T>C
c.*3T>C (n.*3T>C)
 gnomAD v4
16g.1985940T>GCA7826081GFERc.305T>G (p.Val102Gly)
c.530T>G (p.Val177Gly)
n.687T>G
c.*3T>G (n.*3T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985940T=CA2201967763GFERc.305T= (p.Val102=)
c.530T= (p.Val177=)
n.687T=
c.*3T= (n.*3T=)
16g.1985941G>ACA492950189GFERc.306G>A (p.Val102=)
c.531G>A (p.Val177=)
n.688G>A
c.*4G>A (n.*4G>A)
16g.1985941G>CCA492950191GFERc.306G>C (p.Val102=)
c.531G>C (p.Val177=)
n.688G>C
c.*4G>C (n.*4G>C)
 dbSNP
16g.1985941G=CA2201967764GFERc.306G= (p.Val102=)
c.531G= (p.Val177=)
n.688G=
c.*4G= (n.*4G=)
16g.1985941G>TCA492950190GFERc.306G>T (p.Val102=)
c.531G>T (p.Val177=)
n.688G>T
c.*4G>T (n.*4G>T)
16g.1985942A>CCA394304197GFERc.307A>C (p.Asn103His)
c.532A>C (p.Asn178His)
n.689A>C
c.*5A>C (n.*5A>C)
16g.1985942A>GCA394304215GFERc.307A>G (p.Asn103Asp)
c.532A>G (p.Asn178Asp)
n.689A>G
c.*5A>G (n.*5A>G)
16g.1985942A>TCA394304209GFERc.307A>T (p.Asn103Tyr)
c.532A>T (p.Asn178Tyr)
n.689A>T
c.*5A>T (n.*5A>T)
16g.1985943A=CA2201967767GFERc.308A= (p.Asn103=)
c.533A= (p.Asn178=)
n.690A=
c.*6A= (n.*6A=)
16g.1985943A>CCA394304219GFERc.308A>C (p.Asn103Thr)
c.533A>C (p.Asn178Thr)
n.690A>C
c.*6A>C (n.*6A>C)
16g.1985943A>GCA394304224GFERc.308A>G (p.Asn103Ser)
c.533A>G (p.Asn178Ser)
n.690A>G
c.*6A>G (n.*6A>G)
16g.1985943A>TCA394304221GFERc.308A>T (p.Asn103Ile)
c.533A>T (p.Asn178Ile)
n.690A>T
c.*6A>T (n.*6A>T)
16g.1985943_1985945delinsACCCA2201967766GFERc.308_310delinsACC (p.Asn103=)
c.533_535delinsACC (p.Asn178=)
n.690_692delinsACC
c.*6_*8delinsACC (n.*6_*8delinsACC)
16g.1985943_1985944insGGTCA2201967772GFERc.308_309insGGT (p.Asn103delinsLysVal)
c.533_534insGGT (p.Asn178delinsLysVal)
n.690_691insGGT
c.*6_*7insGGT (n.*6_*7insGGT)
 dbSNP
16g.1985944C>ACA394304229GFERc.309C>A (p.Asn103Lys)
c.534C>A (p.Asn178Lys)
n.691C>A
c.*7C>A (n.*7C>A)
 gnomAD v4
16g.1985944C=CA2201967771GFERc.309C= (p.Asn103=)
c.534C= (p.Asn178=)
n.691C=
c.*7C= (n.*7C=)
16g.1985944C>GCA394304231GFERc.309C>G (p.Asn103Lys)
c.534C>G (p.Asn178Lys)
n.691C>G
c.*7C>G (n.*7C>G)
 dbSNP
16g.1985944C>TCA7826082GFERc.309C>T (p.Asn103=)
c.534C>T (p.Asn178=)
n.691C>T
c.*7C>T (n.*7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985944_1985945delCA919640052GFERc.309_310del (p.Asn103LysfsTer7)
c.534_535del (p.Asn178LysfsTer7)
n.691_692del
c.*7_*8del (n.*7_*8del)
 dbSNP gnomAD v3 gnomAD v4
16g.1985945C>ACA394304232GFERc.310C>A (p.Arg104Ser)
c.535C>A (p.Arg179Ser)
n.692C>A
c.*8C>A (n.*8C>A)
 COSMIC
16g.1985945C=CA2201967774GFERc.310C= (p.Arg104=)
c.535C= (p.Arg179=)
n.692C=
c.*8C= (n.*8C=)
16g.1985945C>GCA394304233GFERc.310C>G (p.Arg104Gly)
c.535C>G (p.Arg179Gly)
n.692C>G
c.*8C>G (n.*8C>G)
 dbSNP gnomAD v4
16g.1985945C>TCA7826083GFERc.310C>T (p.Arg104Cys)
c.535C>T (p.Arg179Cys)
n.692C>T
c.*8C>T (n.*8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985946G>ACA7826084GFERc.311G>A (p.Arg104His)
c.536G>A (p.Arg179His)
n.693G>A
c.*9G>A (n.*9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985946G>CCA394304239GFERc.311G>C (p.Arg104Pro)
c.536G>C (p.Arg179Pro)
n.693G>C
c.*9G>C (n.*9G>C)
16g.1985946G=CA2201967776GFERc.311G= (p.Arg104=)
c.536G= (p.Arg179=)
n.693G=
c.*9G= (n.*9G=)
16g.1985946G>TCA394304242GFERc.311G>T (p.Arg104Leu)
c.536G>T (p.Arg179Leu)
n.693G>T
c.*9G>T (n.*9G>T)
16g.1985946_1985947insGTGGGCA919640053GFERc.311_312insGTGGG (p.Lys105TrpfsTer?)
c.536_537insGTGGG (p.Lys180TrpfsTer?)
n.693_694insGTGGG
c.*9_*10insGTGGG (n.*9_*10insGTGGG)
 dbSNP gnomAD v3 gnomAD v4
16g.1985947C>ACA492950198GFERc.312C>A (p.Arg104=)
c.537C>A (p.Arg179=)
n.694C>A
c.*10C>A (n.*10C>A)
16g.1985947C=CA2201967778GFERc.312C= (p.Arg104=)
c.537C= (p.Arg179=)
n.694C=
c.*10C= (n.*10C=)
16g.1985947C>GCA492950199GFERc.312C>G (p.Arg104=)
c.537C>G (p.Arg179=)
n.694C>G
c.*10C>G (n.*10C>G)
16g.1985947C>TCA7826085GFERc.312C>T (p.Arg104=)
c.537C>T (p.Arg179=)
n.694C>T
c.*10C>T (n.*10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985948A=CA2201967780GFERc.313A= (p.Lys105=)
c.538A= (p.Lys180=)
n.695A=
c.*11A= (n.*11A=)
16g.1985948A>CCA394304252GFERc.313A>C (p.Lys105Gln)
c.538A>C (p.Lys180Gln)
n.695A>C
c.*11A>C (n.*11A>C)
16g.1985948A>GCA394304250GFERc.313A>G (p.Lys105Glu)
c.538A>G (p.Lys180Glu)
n.695A>G
c.*11A>G (n.*11A>G)
 dbSNP gnomAD v2
16g.1985948A>TCA394304248GFERc.313A>T (p.Lys105Ter)
c.538A>T (p.Lys180Ter)
n.695A>T
c.*11A>T (n.*11A>T)
16g.1985949A>CCA394304257GFERc.314A>C (p.Lys105Thr)
c.539A>C (p.Lys180Thr)
n.696A>C
c.*12A>C (n.*12A>C)
16g.1985949A>GCA394304259GFERc.314A>G (p.Lys105Arg)
c.539A>G (p.Lys180Arg)
n.696A>G
c.*12A>G (n.*12A>G)
16g.1985949A>TCA394304262GFERc.314A>T (p.Lys105Met)
c.539A>T (p.Lys180Met)
n.696A>T
c.*12A>T (n.*12A>T)
16g.1985950G>ACA492950204GFERc.315G>A (p.Lys105=)
c.540G>A (p.Lys180=)
n.697G>A
c.*13G>A (n.*13G>A)
 gnomAD v4
16g.1985950G>CCA394304266GFERc.315G>C (p.Lys105Asn)
c.540G>C (p.Lys180Asn)
n.697G>C
c.*13G>C (n.*13G>C)
16g.1985950G>TCA394304269GFERc.315G>T (p.Lys105Asn)
c.540G>T (p.Lys180Asn)
n.697G>T
c.*13G>T (n.*13G>T)
16g.1985951C>ACA394304276GFERc.316C>A (p.Leu106Met)
c.541C>A (p.Leu181Met)
n.698C>A
c.*14C>A (n.*14C>A)
16g.1985951C=CA2201967781GFERc.316C= (p.Leu106=)
c.541C= (p.Leu181=)
n.698C=
c.*14C= (n.*14C=)
16g.1985951C>GCA394304278GFERc.316C>G (p.Leu106Val)
c.541C>G (p.Leu181Val)
n.698C>G
c.*14C>G (n.*14C>G)
 ClinVar
16g.1985951C>TCA492950206GFERc.316C>T (p.Leu106=)
c.541C>T (p.Leu181=)
n.698C>T
c.*14C>T (n.*14C>T)
 ClinVar dbSNP gnomAD v4
16g.1985952T>ACA394304281GFERc.317T>A (p.Leu106Gln)
c.542T>A (p.Leu181Gln)
n.699T>A
c.*15T>A (n.*15T>A)
16g.1985952T>CCA394304282GFERc.317T>C (p.Leu106Pro)
c.542T>C (p.Leu181Pro)
n.699T>C
c.*15T>C (n.*15T>C)
16g.1985952T>GCA394304285GFERc.317T>G (p.Leu106Arg)
c.542T>G (p.Leu181Arg)
n.699T>G
c.*15T>G (n.*15T>G)
16g.1985953G>ACA276773515GFERc.318G>A (p.Leu106=)
c.543G>A (p.Leu181=)
n.700G>A
c.*16G>A (n.*16G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.1985953G>CCA492950210GFERc.318G>C (p.Leu106=)
c.543G>C (p.Leu181=)
n.700G>C
c.*16G>C (n.*16G>C)
16g.1985953G=CA2201967783GFERc.318G= (p.Leu106=)
c.543G= (p.Leu181=)
n.700G=
c.*16G= (n.*16G=)
16g.1985953G>TCA492950211GFERc.318G>T (p.Leu106=)
c.543G>T (p.Leu181=)
n.700G>T
c.*16G>T (n.*16G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.1985954G>ACA276773518GFERc.319G>A (p.Gly107Ser)
c.544G>A (p.Gly182Ser)
n.701G>A
c.*17G>A (n.*17G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.1985954G>CCA394304293GFERc.319G>C (p.Gly107Arg)
c.544G>C (p.Gly182Arg)
n.701G>C
c.*17G>C (n.*17G>C)
16g.1985954G=CA2201967785GFERc.319G= (p.Gly107=)
c.544G= (p.Gly182=)
n.701G=
c.*17G= (n.*17G=)
16g.1985954G>TCA394304291GFERc.319G>T (p.Gly107Cys)
c.544G>T (p.Gly182Cys)
n.701G>T
c.*17G>T (n.*17G>T)
16g.1985955_1985959delCA2631092509GFERc.320_324del (p.Gly107AlafsTer2)
c.545_549del (p.Gly182AlafsTer2)
n.702_706del
c.*18_*22del (n.*18_*22del)
 gnomAD v4
16g.1985955G>ACA7826086GFERc.320G>A (p.Gly107Asp)
c.545G>A (p.Gly182Asp)
n.702G>A
c.*18G>A (n.*18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985955G>CCA394304295GFERc.320G>C (p.Gly107Ala)
c.545G>C (p.Gly182Ala)
n.702G>C
c.*18G>C (n.*18G>C)
16g.1985955G=CA2201967787GFERc.320G= (p.Gly107=)
c.545G= (p.Gly182=)
n.702G=
c.*18G= (n.*18G=)
16g.1985955G>TCA394304296GFERc.320G>T (p.Gly107Val)
c.545G>T (p.Gly182Val)
n.702G>T
c.*18G>T (n.*18G>T)
 gnomAD v4
16g.1985956C>ACA492950214GFERc.321C>A (p.Gly107=)
c.546C>A (p.Gly182=)
n.703C>A
c.*19C>A (n.*19C>A)
 dbSNP gnomAD v2
16g.1985956C=CA2201967788GFERc.321C= (p.Gly107=)
c.546C= (p.Gly182=)
n.703C=
c.*19C= (n.*19C=)
16g.1985956C>GCA492950216GFERc.321C>G (p.Gly107=)
c.546C>G (p.Gly182=)
n.703C>G
c.*19C>G (n.*19C>G)
16g.1985956C>TCA492950218GFERc.321C>T (p.Gly107=)
c.546C>T (p.Gly182=)
n.703C>T
c.*19C>T (n.*19C>T)
16g.1985957A=CA2201967790GFERc.322A= (p.Lys108=)
c.547A= (p.Lys183=)
n.704A=
c.*20A= (n.*20A=)
16g.1985957A>CCA394304300GFERc.322A>C (p.Lys108Gln)
c.547A>C (p.Lys183Gln)
n.704A>C
c.*20A>C (n.*20A>C)
16g.1985957A>GCA394304311GFERc.322A>G (p.Lys108Glu)
c.547A>G (p.Lys183Glu)
n.704A>G
c.*20A>G (n.*20A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.1985957A>TCA394304324GFERc.322A>T (p.Lys108Ter)
c.547A>T (p.Lys183Ter)
n.704A>T
c.*20A>T (n.*20A>T)
16g.1985960_1986010delCA2631092520GFERc.325_375del (p.Pro109_Lys125del)
c.550_600del (p.Pro184_Lys200del)
n.707_757del
c.*23_*73del (n.*23_*73del)
 gnomAD v4
16g.1985958A>CCA394304328GFERc.323A>C (p.Lys108Thr)
c.548A>C (p.Lys183Thr)
n.705A>C
c.*21A>C (n.*21A>C)
16g.1985958A>GCA394304332GFERc.323A>G (p.Lys108Arg)
c.548A>G (p.Lys183Arg)
n.705A>G
c.*21A>G (n.*21A>G)
16g.1985958A>TCA394304335GFERc.323A>T (p.Lys108Met)
c.548A>T (p.Lys183Met)
n.705A>T
c.*21A>T (n.*21A>T)
16g.1985959G>ACA492950222GFERc.324G>A (p.Lys108=)
c.549G>A (p.Lys183=)
n.706G>A
c.*22G>A (n.*22G>A)
16g.1985959G>CCA394304340GFERc.324G>C (p.Lys108Asn)
c.549G>C (p.Lys183Asn)
n.706G>C
c.*22G>C (n.*22G>C)
16g.1985959G>TCA394304342GFERc.324G>T (p.Lys108Asn)
c.549G>T (p.Lys183Asn)
n.706G>T
c.*22G>T (n.*22G>T)
16g.1985960C>ACA323190GFERc.325C>A (p.Pro109Thr)
c.550C>A (p.Pro184Thr)
n.707C>A
c.*23C>A (n.*23C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985960C=CA2201967792GFERc.325C= (p.Pro109=)
c.550C= (p.Pro184=)
n.707C=
c.*23C= (n.*23C=)
16g.1985960C>GCA394304349GFERc.325C>G (p.Pro109Ala)
c.550C>G (p.Pro184Ala)
n.707C>G
c.*23C>G (n.*23C>G)
16g.1985960C>TCA394304345GFERc.325C>T (p.Pro109Ser)
c.550C>T (p.Pro184Ser)
n.707C>T
c.*23C>T (n.*23C>T)
16g.1985961C>ACA394304351GFERc.326C>A (p.Pro109His)
c.551C>A (p.Pro184His)
n.708C>A
c.*24C>A (n.*24C>A)
 dbSNP
16g.1985961C=CA2201967795GFERc.326C= (p.Pro109=)
c.551C= (p.Pro184=)
n.708C=
c.*24C= (n.*24C=)
16g.1985961C>GCA394304354GFERc.326C>G (p.Pro109Arg)
c.551C>G (p.Pro184Arg)
n.708C>G
c.*24C>G (n.*24C>G)
16g.1985961C>TCA394304364GFERc.326C>T (p.Pro109Leu)
c.551C>T (p.Pro184Leu)
n.708C>T
c.*24C>T (n.*24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985962T>ACA492950226GFERc.327T>A (p.Pro109=)
c.552T>A (p.Pro184=)
n.709T>A
c.*25T>A (n.*25T>A)
16g.1985962T>CCA492950227GFERc.327T>C (p.Pro109=)
c.552T>C (p.Pro184=)
n.709T>C
c.*25T>C (n.*25T>C)
16g.1985962T>GCA492950228GFERc.327T>G (p.Pro109=)
c.552T>G (p.Pro184=)
n.709T>G
c.*25T>G (n.*25T>G)
16g.1985963G>ACA7826087GFERc.328G>A (p.Asp110Asn)
c.553G>A (p.Asp185Asn)
n.710G>A
c.*26G>A (n.*26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985963G>CCA394304369GFERc.328G>C (p.Asp110His)
c.553G>C (p.Asp185His)
n.710G>C
c.*26G>C (n.*26G>C)
16g.1985963G=CA2201967797GFERc.328G= (p.Asp110=)
c.553G= (p.Asp185=)
n.710G=
c.*26G= (n.*26G=)
16g.1985963G>TCA394304376GFERc.328G>T (p.Asp110Tyr)
c.553G>T (p.Asp185Tyr)
n.710G>T
c.*26G>T (n.*26G>T)
 gnomAD v4
16g.1985964A>CCA394304380GFERc.329A>C (p.Asp110Ala)
c.554A>C (p.Asp185Ala)
n.711A>C
c.*27A>C (n.*27A>C)
16g.1985964A>GCA394304395GFERc.329A>G (p.Asp110Gly)
c.554A>G (p.Asp185Gly)
n.711A>G
c.*27A>G (n.*27A>G)
16g.1985964A>TCA394304385GFERc.329A>T (p.Asp110Val)
c.554A>T (p.Asp185Val)
n.711A>T
c.*27A>T (n.*27A>T)
16g.1985965C>ACA394304397GFERc.330C>A (p.Asp110Glu)
c.555C>A (p.Asp185Glu)
n.712C>A
c.*28C>A (n.*28C>A)
16g.1985965C=CA2201967799GFERc.330C= (p.Asp110=)
c.555C= (p.Asp185=)
n.712C=
c.*28C= (n.*28C=)
16g.1985965C>GCA394304399GFERc.330C>G (p.Asp110Glu)
c.555C>G (p.Asp185Glu)
n.712C>G
c.*28C>G (n.*28C>G)
16g.1985965C>TCA492950230GFERc.330C>T (p.Asp110=)
c.555C>T (p.Asp185=)
n.712C>T
c.*28C>T (n.*28C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985966T>ACA394304401GFERc.331T>A (p.Phe111Ile)
c.556T>A (p.Phe186Ile)
n.713T>A
c.*29T>A (n.*29T>A)
 COSMIC
16g.1985966T>CCA394304404GFERc.331T>C (p.Phe111Leu)
c.556T>C (p.Phe186Leu)
n.713T>C
c.*29T>C (n.*29T>C)
 gnomAD v4
16g.1985966T>GCA394304406GFERc.331T>G (p.Phe111Val)
c.556T>G (p.Phe186Val)
n.713T>G
c.*29T>G (n.*29T>G)
16g.1985967T>ACA394304429GFERc.332T>A (p.Phe111Tyr)
c.557T>A (p.Phe186Tyr)
n.714T>A
c.*30T>A (n.*30T>A)
16g.1985967T>CCA394304421GFERc.332T>C (p.Phe111Ser)
c.557T>C (p.Phe186Ser)
n.714T>C
c.*30T>C (n.*30T>C)
16g.1985967T>GCA394304417GFERc.332T>G (p.Phe111Cys)
c.557T>G (p.Phe186Cys)
n.714T>G
c.*30T>G (n.*30T>G)
16g.1985968C>ACA394304436GFERc.333C>A (p.Phe111Leu)
c.558C>A (p.Phe186Leu)
n.715C>A
c.*31C>A (n.*31C>A)
16g.1985968C=CA2201967801GFERc.333C= (p.Phe111=)
c.558C= (p.Phe186=)
n.715C=
c.*31C= (n.*31C=)
16g.1985968C>GCA7826089GFERc.333C>G (p.Phe111Leu)
c.558C>G (p.Phe186Leu)
n.715C>G
c.*31C>G (n.*31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985968C>TCA7826088GFERc.333C>T (p.Phe111=)
c.558C>T (p.Phe186=)
n.715C>T
c.*31C>T (n.*31C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1985969G>ACA276773538GFERc.334G>A (p.Asp112Asn)
c.559G>A (p.Asp187Asn)
n.716G>A
c.*32G>A (n.*32G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.1985969G>CCA394304438GFERc.334G>C (p.Asp112His)
c.559G>C (p.Asp187His)
n.716G>C
c.*32G>C (n.*32G>C)
 gnomAD v4
16g.1985969G=CA2201967803GFERc.334G= (p.Asp112=)
c.559G= (p.Asp187=)
n.716G=
c.*32G= (n.*32G=)
16g.1985969G>TCA394304439GFERc.334G>T (p.Asp112Tyr)
c.559G>T (p.Asp187Tyr)
n.716G>T
c.*32G>T (n.*32G>T)
 ClinVar dbSNP gnomAD v4
16g.1985970A>CCA394304440GFERc.335A>C (p.Asp112Ala)
c.560A>C (p.Asp187Ala)
n.717A>C
c.*33A>C (n.*33A>C)
16g.1985970A>GCA394304442GFERc.335A>G (p.Asp112Gly)
c.560A>G (p.Asp187Gly)
n.717A>G
c.*33A>G (n.*33A>G)
16g.1985970A>TCA394304445GFERc.335A>T (p.Asp112Val)
c.560A>T (p.Asp187Val)
n.717A>T
c.*33A>T (n.*33A>T)
16g.1985971C>ACA394304447GFERc.336C>A (p.Asp112Glu)
c.561C>A (p.Asp187Glu)
n.718C>A
c.*34C>A (n.*34C>A)
16g.1985971C>GCA394304454GFERc.336C>G (p.Asp112Glu)
c.561C>G (p.Asp187Glu)
n.718C>G
c.*34C>G (n.*34C>G)
16g.1985971C>TCA492950244GFERc.336C>T (p.Asp112=)
c.561C>T (p.Asp187=)
n.718C>T
c.*34C>T (n.*34C>T)

Number of alleles fetched