Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906176C>ACA402513751DCCc.545C>A (p.Pro182Gln)
c.346C>A
c.476C>A (p.Pro159Gln)
c.466C>A
n.458C>A
c.466C>A (n.466C>A)
18g.52906176C>GCA402513752DCCc.545C>G (p.Pro182Arg)
c.346C>G
c.476C>G (p.Pro159Arg)
c.466C>G
n.458C>G
c.466C>G (n.466C>G)
18g.52906176C>TCA402513753DCCc.545C>T (p.Pro182Leu)
c.346C>T
c.476C>T (p.Pro159Leu)
c.466C>T
n.458C>T
c.466C>T (n.466C>T)
 COSMIC COSMIC
18g.52906177A=CA2303875051DCCc.546A= (p.Pro182=)
c.347A=
c.477A= (p.Pro159=)
c.467A=
n.459A=
c.467A= (n.467A=)
18g.52906177A>CCA503999361DCCc.546A>C (p.Pro182=)
c.347A>C
c.477A>C (p.Pro159=)
c.467A>C
n.459A>C
c.467A>C (n.467A>C)
 gnomAD v4
18g.52906177A>GCA503999362DCCc.546A>G (p.Pro182=)
c.347A>G
c.477A>G (p.Pro159=)
c.467A>G
n.459A>G
c.467A>G (n.467A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906177A>TCA503999363DCCc.546A>T (p.Pro182=)
c.347A>T
c.477A>T (p.Pro159=)
c.467A>T
n.459A>T
c.467A>T (n.467A>T)
18g.52906178A=CA2303875052DCCc.547A= (p.Ile183=)
c.348A=
c.478A= (p.Ile160=)
c.468A=
n.460A=
c.468A= (n.468A=)
18g.52906178A>CCA402513754DCCc.547A>C (p.Ile183Leu)
c.348A>C
c.478A>C (p.Ile160Leu)
c.468A>C
n.460A>C
c.468A>C (n.468A>C)
18g.52906178A>GCA402513756DCCc.547A>G (p.Ile183Val)
c.348A>G
c.478A>G (p.Ile160Val)
c.468A>G
n.460A>G
c.468A>G (n.468A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906178A>TCA402513755DCCc.547A>T (p.Ile183Phe)
c.348A>T
c.478A>T (p.Ile160Phe)
c.468A>T
n.460A>T
c.468A>T (n.468A>T)
18g.52906179T>ACA402513757DCCc.548T>A (p.Ile183Asn)
c.349T>A
c.479T>A (p.Ile160Asn)
c.469T>A
n.461T>A
c.469T>A (n.469T>A)
18g.52906179T>CCA402513758DCCc.548T>C (p.Ile183Thr)
c.349T>C
c.479T>C (p.Ile160Thr)
c.469T>C
n.461T>C
c.469T>C (n.469T>C)
18g.52906179T>GCA402513759DCCc.548T>G (p.Ile183Ser)
c.349T>G
c.479T>G (p.Ile160Ser)
c.469T>G
n.461T>G
c.469T>G (n.469T>G)
18g.52906180C>ACA503999365DCCc.549C>A (p.Ile183=)
c.350C>A
c.480C>A (p.Ile160=)
c.470C>A
n.462C>A
c.470C>A (n.470C>A)
18g.52906180C=CA2303875053DCCc.549C= (p.Ile183=)
c.350C=
c.480C= (p.Ile160=)
c.470C=
n.462C=
c.470C= (n.470C=)
18g.52906180C>GCA402513760DCCc.549C>G (p.Ile183Met)
c.350C>G
c.480C>G (p.Ile160Met)
c.470C>G
n.462C>G
c.470C>G (n.470C>G)
18g.52906180C>TCA503999364DCCc.549C>T (p.Ile183=)
c.350C>T
c.480C>T (p.Ile160=)
c.470C>T
n.462C>T
c.470C>T (n.470C>T)
 ClinVar dbSNP COSMIC COSMIC
18g.52906181C>ACA402513761DCCc.550C>A (p.Pro184Thr)
c.351C>A
c.481C>A (p.Pro161Thr)
c.471C>A
n.463C>A
c.471C>A (n.471C>A)
18g.52906181C>GCA402513762DCCc.550C>G (p.Pro184Ala)
c.351C>G
c.481C>G (p.Pro161Ala)
c.471C>G
n.463C>G
c.471C>G (n.471C>G)
18g.52906181C>TCA402513763DCCc.550C>T (p.Pro184Ser)
c.351C>T
c.481C>T (p.Pro161Ser)
c.471C>T
n.463C>T
c.471C>T (n.471C>T)
 COSMIC COSMIC
18g.52906182C>ACA402513764DCCc.551C>A (p.Pro184Gln)
c.352C>A
c.482C>A (p.Pro161Gln)
c.472C>A
n.464C>A
c.472C>A (n.472C>A)
18g.52906182C=CA2303875054DCCc.551C= (p.Pro184=)
c.352C=
c.482C= (p.Pro161=)
c.472C=
n.464C=
c.472C= (n.472C=)
18g.52906182C>GCA402513765DCCc.551C>G (p.Pro184Arg)
c.352C>G
c.482C>G (p.Pro161Arg)
c.472C>G
n.464C>G
c.472C>G (n.472C>G)
18g.52906182C>TCA8966566DCCc.551C>T (p.Pro184Leu)
c.352C>T
c.482C>T (p.Pro161Leu)
c.472C>T
n.464C>T
c.472C>T (n.472C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906183A=CA2303875055DCCc.552A= (p.Pro184=)
c.353A=
c.483A= (p.Pro161=)
c.473A=
n.465A=
c.473A= (n.473A=)
18g.52906183A>CCA503999366DCCc.552A>C (p.Pro184=)
c.353A>C
c.483A>C (p.Pro161=)
c.473A>C
n.465A>C
c.473A>C (n.473A>C)
18g.52906183A>GCA503999367DCCc.552A>G (p.Pro184=)
c.353A>G
c.483A>G (p.Pro161=)
c.473A>G
n.465A>G
c.473A>G (n.473A>G)
 dbSNP gnomAD v4
18g.52906183A>TCA503999368DCCc.552A>T (p.Pro184=)
c.353A>T
c.483A>T (p.Pro161=)
c.473A>T
n.465A>T
c.473A>T (n.473A>T)
18g.52906184G>ACA402513766DCCc.553G>A (p.Gly185Ser)
c.354G>A
c.484G>A (p.Gly162Ser)
c.474G>A
n.466G>A
c.474G>A (n.474G>A)
18g.52906184G>CCA8966567DCCc.553G>C (p.Gly185Arg)
c.354G>C
c.484G>C (p.Gly162Arg)
c.474G>C
n.466G>C
c.474G>C (n.474G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906184G=CA2303875056DCCc.553G= (p.Gly185=)
c.354G=
c.484G= (p.Gly162=)
c.474G=
n.466G=
c.474G= (n.474G=)
18g.52906184G>TCA402513767DCCc.553G>T (p.Gly185Cys)
c.354G>T
c.484G>T (p.Gly162Cys)
c.474G>T
n.466G>T
c.474G>T (n.474G>T)
18g.52906185G>ACA402513768DCCc.554G>A (p.Gly185Asp)
c.355G>A
c.485G>A (p.Gly162Asp)
c.475G>A
n.467G>A
c.475G>A (n.475G>A)
 gnomAD v4
18g.52906185G>CCA402513770DCCc.554G>C (p.Gly185Ala)
c.355G>C
c.485G>C (p.Gly162Ala)
c.475G>C
n.467G>C
c.475G>C (n.475G>C)
18g.52906185G=CA2303875057DCCc.554G= (p.Gly185=)
c.355G=
c.485G= (p.Gly162=)
c.475G=
n.467G=
c.475G= (n.475G=)
18g.52906185G>TCA402513769DCCc.554G>T (p.Gly185Val)
c.355G>T
c.485G>T (p.Gly162Val)
c.475G>T
n.467G>T
c.475G>T (n.475G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.52906186T>ACA503999369DCCc.555T>A (p.Gly185=)
c.356T>A
c.486T>A (p.Gly162=)
c.476T>A
n.468T>A
c.476T>A (n.476T>A)
18g.52906186T>CCA503999370DCCc.555T>C (p.Gly185=)
c.356T>C
c.486T>C (p.Gly162=)
c.476T>C
n.468T>C
c.476T>C (n.476T>C)
 dbSNP
18g.52906186T>GCA300657952DCCc.555T>G (p.Gly185=)
c.356T>G
c.486T>G (p.Gly162=)
c.476T>G
n.468T>G
c.476T>G (n.476T>G)
 dbSNP
18g.52906186T=CA2303875058DCCc.555T= (p.Gly185=)
c.356T=
c.486T= (p.Gly162=)
c.476T=
n.468T=
c.476T= (n.476T=)
18g.52906187G>ACA402513771DCCc.556G>A (p.Asp186Asn)
c.357G>A
c.487G>A (p.Asp163Asn)
c.477G>A
n.469G>A
c.477G>A (n.477G>A)
18g.52906187G>CCA402513772DCCc.556G>C (p.Asp186His)
c.357G>C
c.487G>C (p.Asp163His)
c.477G>C
n.469G>C
c.477G>C (n.477G>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906187G=CA2303875059DCCc.556G= (p.Asp186=)
c.357G=
c.487G= (p.Asp163=)
c.477G=
n.469G=
c.477G= (n.477G=)
18g.52906187G>TCA402513773DCCc.556G>T (p.Asp186Tyr)
c.357G>T
c.487G>T (p.Asp163Tyr)
c.477G>T
n.469G>T
c.477G>T (n.477G>T)
18g.52906188A>CCA402513774DCCc.557A>C (p.Asp186Ala)
c.358A>C
c.488A>C (p.Asp163Ala)
c.478A>C
n.470A>C
c.478A>C (n.478A>C)
 gnomAD v4
18g.52906188A>GCA402513775DCCc.557A>G (p.Asp186Gly)
c.358A>G
c.488A>G (p.Asp163Gly)
c.478A>G
n.470A>G
c.478A>G (n.478A>G)
18g.52906188A>TCA402513776DCCc.557A>T (p.Asp186Val)
c.358A>T
c.488A>T (p.Asp163Val)
c.478A>T
n.470A>T
c.478A>T (n.478A>T)
18g.52906189C>ACA402513777DCCc.558C>A (p.Asp186Glu)
c.359C>A
c.489C>A (p.Asp163Glu)
c.479C>A
n.471C>A
c.479C>A (n.479C>A)
18g.52906189C>GCA402513778DCCc.558C>G (p.Asp186Glu)
c.359C>G
c.489C>G (p.Asp163Glu)
c.479C>G
n.471C>G
c.479C>G (n.479C>G)
18g.52906189C>TCA503999371DCCc.558C>T (p.Asp186=)
c.359C>T
c.489C>T (p.Asp163=)
c.479C>T
n.471C>T
c.479C>T (n.479C>T)
 gnomAD v4
18g.52906190T>ACA402513779DCCc.559T>A (p.Ser187Thr)
c.360T>A
c.490T>A (p.Ser164Thr)
c.480T>A
n.472T>A
c.480T>A (n.480T>A)
18g.52906190T>CCA402513780DCCc.559T>C (p.Ser187Pro)
c.360T>C
c.490T>C (p.Ser164Pro)
c.480T>C
n.472T>C
c.480T>C (n.480T>C)
 dbSNP gnomAD v4
18g.52906190T>GCA402513781DCCc.559T>G (p.Ser187Ala)
c.360T>G
c.490T>G (p.Ser164Ala)
c.480T>G
n.472T>G
c.480T>G (n.480T>G)
18g.52906190T=CA2303875060DCCc.559T= (p.Ser187=)
c.360T=
c.490T= (p.Ser164=)
c.480T=
n.472T=
c.480T= (n.480T=)
18g.52906191C>ACA8966568DCCc.560C>A (p.Ser187Tyr)
c.361C>A
c.491C>A (p.Ser164Tyr)
c.481C>A
n.473C>A
c.481C>A (n.481C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906191C=CA2303875061DCCc.560C= (p.Ser187=)
c.361C=
c.491C= (p.Ser164=)
c.481C=
n.473C=
c.481C= (n.481C=)
18g.52906191C>GCA402513783DCCc.560C>G (p.Ser187Cys)
c.361C>G
c.491C>G (p.Ser164Cys)
c.481C>G
n.473C>G
c.481C>G (n.481C>G)
18g.52906191C>TCA402513782DCCc.560C>T (p.Ser187Phe)
c.361C>T
c.491C>T (p.Ser164Phe)
c.481C>T
n.473C>T
c.481C>T (n.481C>T)
18g.52906192C>ACA503999372DCCc.561C>A (p.Ser187=)
c.362C>A
c.492C>A (p.Ser164=)
c.482C>A
n.474C>A
c.482C>A (n.482C>A)
18g.52906192C=CA2303875062DCCc.561C= (p.Ser187=)
c.362C=
c.492C= (p.Ser164=)
c.482C=
n.474C=
c.482C= (n.482C=)
18g.52906192C>GCA503999373DCCc.561C>G (p.Ser187=)
c.362C>G
c.492C>G (p.Ser164=)
c.482C>G
n.474C>G
c.482C>G (n.482C>G)
18g.52906192C>TCA8966569DCCc.561C>T (p.Ser187=)
c.362C>T
c.492C>T (p.Ser164=)
c.482C>T
n.474C>T
c.482C>T (n.482C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906193C>ACA503999374DCCc.562C>A (p.Arg188=)
c.363C>A
c.493C>A (p.Arg165=)
c.483C>A
n.475C>A
c.483C>A (n.483C>A)
 dbSNP gnomAD v4 COSMIC COSMIC
18g.52906193C=CA2303875063DCCc.562C= (p.Arg188=)
c.363C=
c.493C= (p.Arg165=)
c.483C=
n.475C=
c.483C= (n.483C=)
18g.52906193C>GCA402513784DCCc.562C>G (p.Arg188Gly)
c.363C>G
c.493C>G (p.Arg165Gly)
c.483C>G
n.475C>G
c.483C>G (n.483C>G)
 gnomAD v4
18g.52906193C>TCA402513785DCCc.562C>T (p.Arg188Ter)
c.363C>T
c.493C>T (p.Arg165Ter)
c.483C>T
n.475C>T
c.483C>T (n.483C>T)
 gnomAD v4 COSMIC
18g.52906194G>ACA402513786DCCc.563G>A (p.Arg188Gln)
c.364G>A
c.494G>A (p.Arg165Gln)
c.484G>A
n.476G>A
c.484G>A (n.484G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.52906194G>CCA402513788DCCc.563G>C (p.Arg188Pro)
c.364G>C
c.494G>C (p.Arg165Pro)
c.484G>C
n.476G>C
c.484G>C (n.484G>C)
 gnomAD v4
18g.52906194G=CA2303875064DCCc.563G= (p.Arg188=)
c.364G=
c.494G= (p.Arg165=)
c.484G=
n.476G=
c.484G= (n.484G=)
18g.52906194G>TCA402513787DCCc.563G>T (p.Arg188Leu)
c.364G>T
c.494G>T (p.Arg165Leu)
c.484G>T
n.476G>T
c.484G>T (n.484G>T)
18g.52906195A=CA2303875065DCCc.564A= (p.Arg188=)
c.365A=
c.495A= (p.Arg165=)
c.485A=
n.477A=
c.485A= (n.485A=)
18g.52906195A>CCA503999375DCCc.564A>C (p.Arg188=)
c.365A>C
c.495A>C (p.Arg165=)
c.485A>C
n.477A>C
c.485A>C (n.485A>C)
18g.52906195A>GCA503999376DCCc.564A>G (p.Arg188=)
c.365A>G
c.495A>G (p.Arg165=)
c.485A>G
n.477A>G
c.485A>G (n.485A>G)
 gnomAD v4
18g.52906195A>TCA503999377DCCc.564A>T (p.Arg188=)
c.365A>T
c.495A>T (p.Arg165=)
c.485A>T
n.477A>T
c.485A>T (n.485A>T)
 dbSNP gnomAD v2 gnomAD v4
18g.52906196G>ACA402513789DCCc.565G>A (p.Val189Met)
c.366G>A
c.496G>A (p.Val166Met)
c.486G>A
n.478G>A
c.486G>A (n.486G>A)
18g.52906196G>CCA8966570DCCc.565G>C (p.Val189Leu)
c.366G>C
c.496G>C (p.Val166Leu)
c.486G>C
n.478G>C
c.486G>C (n.486G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906196G=CA2303875066DCCc.565G= (p.Val189=)
c.366G=
c.496G= (p.Val166=)
c.486G=
n.478G=
c.486G= (n.486G=)
18g.52906196G>TCA402513790DCCc.565G>T (p.Val189Leu)
c.366G>T
c.496G>T (p.Val166Leu)
c.486G>T
n.478G>T
c.486G>T (n.486G>T)
18g.52906197T>ACA402513791DCCc.566T>A (p.Val189Glu)
c.367T>A
c.497T>A (p.Val166Glu)
c.487T>A
n.479T>A
c.487T>A (n.487T>A)
18g.52906197T>CCA402513792DCCc.566T>C (p.Val189Ala)
c.367T>C
c.497T>C (p.Val166Ala)
c.487T>C
n.479T>C
c.487T>C (n.487T>C)
18g.52906197T>GCA402513793DCCc.566T>G (p.Val189Gly)
c.367T>G
c.497T>G (p.Val166Gly)
c.487T>G
n.479T>G
c.487T>G (n.487T>G)
18g.52906198G>ACA503999378DCCc.567G>A (p.Val189=)
c.368G>A
c.498G>A (p.Val166=)
c.488G>A
n.480G>A
c.488G>A (n.488G>A)
 COSMIC COSMIC
18g.52906198G>CCA503999379DCCc.567G>C (p.Val189=)
c.368G>C
c.498G>C (p.Val166=)
c.488G>C
n.480G>C
c.488G>C (n.488G>C)
18g.52906198G>TCA503999380DCCc.567G>T (p.Val189=)
c.368G>T
c.498G>T (p.Val166=)
c.488G>T
n.480G>T
c.488G>T (n.488G>T)
18g.52906199G>ACA402513794DCCc.568G>A (p.Val190Met)
c.369G>A
c.499G>A (p.Val167Met)
c.489G>A
n.481G>A
c.489G>A (n.489G>A)
18g.52906199G>CCA402513795DCCc.568G>C (p.Val190Leu)
c.369G>C
c.499G>C (p.Val167Leu)
c.489G>C
n.481G>C
c.489G>C (n.489G>C)
 gnomAD v4
18g.52906199G>TCA402513796DCCc.568G>T (p.Val190Leu)
c.369G>T
c.499G>T (p.Val167Leu)
c.489G>T
n.481G>T
c.489G>T (n.489G>T)
18g.52906200T>ACA402513797DCCc.569T>A (p.Val190Glu)
c.370T>A
c.500T>A (p.Val167Glu)
c.490T>A
n.482T>A
c.490T>A (n.490T>A)
18g.52906200T>CCA402513798DCCc.569T>C (p.Val190Ala)
c.370T>C
c.500T>C (p.Val167Ala)
c.490T>C
n.482T>C
c.490T>C (n.490T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906200T>GCA402513799DCCc.569T>G (p.Val190Gly)
c.370T>G
c.500T>G (p.Val167Gly)
c.490T>G
n.482T>G
c.490T>G (n.490T>G)
18g.52906200T=CA2303875067DCCc.569T= (p.Val190=)
c.370T=
c.500T= (p.Val167=)
c.490T=
n.482T=
c.490T= (n.490T=)
18g.52906201G>ACA8966571DCCc.570G>A (p.Val190=)
c.371G>A
c.501G>A (p.Val167=)
c.491G>A
n.483G>A
c.491G>A (n.491G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906201G>CCA503999382DCCc.570G>C (p.Val190=)
c.371G>C
c.501G>C (p.Val167=)
c.491G>C
n.483G>C
c.491G>C (n.491G>C)
18g.52906201G=CA2303875068DCCc.570G= (p.Val190=)
c.371G=
c.501G= (p.Val167=)
c.491G=
n.483G=
c.491G= (n.491G=)
18g.52906201G>TCA503999381DCCc.570G>T (p.Val190=)
c.371G>T
c.501G>T (p.Val167=)
c.491G>T
n.483G>T
c.491G>T (n.491G>T)
18g.52906202dupCA347158DCCc.571dup (p.Val191GlyfsTer?)
c.372dup
c.502dup (p.Val168GlyfsTer?)
c.492dup
n.484dup
c.492dup (n.492dup)
 ClinVar dbSNP
18g.52906202G>ACA402513800DCCc.571G>A (p.Val191Ile)
c.372G>A
c.502G>A (p.Val168Ile)
c.492G>A
n.484G>A
c.492G>A (n.492G>A)
 gnomAD v4
18g.52906202G>CCA402513801DCCc.571G>C (p.Val191Leu)
c.372G>C
c.502G>C (p.Val168Leu)
c.492G>C
n.484G>C
c.492G>C (n.492G>C)
 gnomAD v4
18g.52906202G=CA2303875069DCCc.571G= (p.Val191=)
c.372G=
c.502G= (p.Val168=)
c.492G=
n.484G=
c.492G= (n.492G=)
18g.52906202G>TCA8966572DCCc.571G>T (p.Val191Phe)
c.372G>T
c.502G>T (p.Val168Phe)
c.492G>T
n.484G>T
c.492G>T (n.492G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906203T>ACA402513802DCCc.572T>A (p.Val191Asp)
c.373T>A
c.503T>A (p.Val168Asp)
c.493T>A
n.485T>A
c.493T>A (n.493T>A)
18g.52906203T>CCA402513803DCCc.572T>C (p.Val191Ala)
c.373T>C
c.503T>C (p.Val168Ala)
c.493T>C
n.485T>C
c.493T>C (n.493T>C)
 gnomAD v4
18g.52906203T>GCA402513804DCCc.572T>G (p.Val191Gly)
c.373T>G
c.503T>G (p.Val168Gly)
c.493T>G
n.485T>G
c.493T>G (n.493T>G)
18g.52906204C>ACA503999383DCCc.573C>A (p.Val191=)
c.374C>A
c.504C>A (p.Val168=)
c.494C>A
n.486C>A
c.494C>A (n.494C>A)
18g.52906204C>GCA503999384DCCc.573C>G (p.Val191=)
c.374C>G
c.504C>G (p.Val168=)
c.494C>G
n.486C>G
c.494C>G (n.494C>G)
18g.52906204C>TCA503999385DCCc.573C>T (p.Val191=)
c.374C>T
c.504C>T (p.Val168=)
c.494C>T
n.486C>T
c.494C>T (n.494C>T)
18g.52906205T>ACA402513805DCCc.574T>A (p.Leu192Met)
c.375T>A
c.505T>A (p.Leu169Met)
c.495T>A
n.487T>A
c.495T>A (n.495T>A)
18g.52906205T>CCA503999386DCCc.574T>C (p.Leu192=)
c.375T>C
c.505T>C (p.Leu169=)
c.495T>C
n.487T>C
c.495T>C (n.495T>C)
18g.52906205T>GCA300657953DCCc.574T>G (p.Leu192Val)
c.375T>G
c.505T>G (p.Leu169Val)
c.495T>G
n.487T>G
c.495T>G (n.495T>G)
 dbSNP
18g.52906205T=CA2303875070DCCc.574T= (p.Leu192=)
c.375T=
c.505T= (p.Leu169=)
c.495T=
n.487T=
c.495T= (n.495T=)
18g.52906206T>ACA402513806DCCc.575T>A (p.Leu192Ter)
c.376T>A
c.506T>A (p.Leu169Ter)
c.496T>A
n.488T>A
c.496T>A (n.496T>A)
18g.52906206T>CCA402513807DCCc.575T>C (p.Leu192Ser)
c.376T>C
c.506T>C (p.Leu169Ser)
c.496T>C
n.488T>C
c.496T>C (n.496T>C)
18g.52906206T>GCA402513808DCCc.575T>G (p.Leu192Trp)
c.376T>G
c.506T>G (p.Leu169Trp)
c.496T>G
n.488T>G
c.496T>G (n.496T>G)
18g.52906207G>ACA503999387DCCc.576G>A (p.Leu192=)
c.377G>A
c.507G>A (p.Leu169=)
c.497G>A
n.489G>A
c.497G>A (n.497G>A)
18g.52906207G>CCA402513810DCCc.576G>C (p.Leu192Phe)
c.377G>C
c.507G>C (p.Leu169Phe)
c.497G>C
n.489G>C
c.497G>C (n.497G>C)
18g.52906207G>TCA402513809DCCc.576G>T (p.Leu192Phe)
c.377G>T
c.507G>T (p.Leu169Phe)
c.497G>T
n.489G>T
c.497G>T (n.497G>T)
 gnomAD v4
18g.52906208C>ACA402513811DCCc.577C>A (p.Pro193Thr)
c.378C>A
c.508C>A (p.Pro170Thr)
c.498C>A
n.490C>A
c.498C>A (n.498C>A)
 gnomAD v4
18g.52906208C=CA2303875071DCCc.577C= (p.Pro193=)
c.378C=
c.508C= (p.Pro170=)
c.498C=
n.490C=
c.498C= (n.498C=)
18g.52906208C>GCA402513812DCCc.577C>G (p.Pro193Ala)
c.378C>G
c.508C>G (p.Pro170Ala)
c.498C>G
n.490C>G
c.498C>G (n.498C>G)
18g.52906208C>TCA402513813DCCc.577C>T (p.Pro193Ser)
c.378C>T
c.508C>T (p.Pro170Ser)
c.498C>T
n.490C>T
c.498C>T (n.498C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.52906209C>ACA402513814DCCc.578C>A (p.Pro193His)
c.379C>A
c.509C>A (p.Pro170His)
c.499C>A
n.491C>A
c.499C>A (n.499C>A)
 COSMIC COSMIC
18g.52906209C>GCA402513815DCCc.578C>G (p.Pro193Arg)
c.379C>G
c.509C>G (p.Pro170Arg)
c.499C>G
n.491C>G
c.499C>G (n.499C>G)
 gnomAD v4
18g.52906209C>TCA402513816DCCc.578C>T (p.Pro193Leu)
c.379C>T
c.509C>T (p.Pro170Leu)
c.499C>T
n.491C>T
c.499C>T (n.499C>T)
18g.52906210C>ACA503999390DCCc.579C>A (p.Pro193=)
c.380C>A
c.510C>A (p.Pro170=)
c.500C>A
n.492C>A
c.500C>A (n.500C>A)
18g.52906210C=CA2303875072DCCc.579C= (p.Pro193=)
c.380C=
c.510C= (p.Pro170=)
c.500C=
n.492C=
c.500C= (n.500C=)
18g.52906210C>GCA503999392DCCc.579C>G (p.Pro193=)
c.380C>G
c.510C>G (p.Pro170=)
c.500C>G
n.492C>G
c.500C>G (n.500C>G)
18g.52906210C>TCA8966573DCCc.579C>T (p.Pro193=)
c.380C>T
c.510C>T (p.Pro170=)
c.500C>T
n.492C>T
c.500C>T (n.500C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906211T>ACA402513817DCCc.580T>A (p.Ser194Thr)
c.381T>A
c.511T>A (p.Ser171Thr)
c.501T>A
n.493T>A
c.501T>A (n.501T>A)
18g.52906211T>CCA402513819DCCc.580T>C (p.Ser194Pro)
c.381T>C
c.511T>C (p.Ser171Pro)
c.501T>C
n.493T>C
c.501T>C (n.501T>C)
18g.52906211T>GCA402513818DCCc.580T>G (p.Ser194Ala)
c.381T>G
c.511T>G (p.Ser171Ala)
c.501T>G
n.493T>G
c.501T>G (n.501T>G)
18g.52906212C>ACA402513820DCCc.581C>A (p.Ser194Tyr)
c.382C>A
c.512C>A (p.Ser171Tyr)
c.502C>A
n.494C>A
c.502C>A (n.502C>A)
18g.52906212C>GCA402513821DCCc.581C>G (p.Ser194Cys)
c.382C>G
c.512C>G (p.Ser171Cys)
c.502C>G
n.494C>G
c.502C>G (n.502C>G)
18g.52906212C>TCA402513822DCCc.581C>T (p.Ser194Phe)
c.382C>T
c.512C>T (p.Ser171Phe)
c.502C>T
n.494C>T
c.502C>T (n.502C>T)
 ClinVar
18g.52906213T>ACA503999394DCCc.582T>A (p.Ser194=)
c.383T>A
c.513T>A (p.Ser171=)
c.503T>A
n.495T>A
c.503T>A (n.503T>A)
18g.52906213T>CCA300657954DCCc.582T>C (p.Ser194=)
c.383T>C
c.513T>C (p.Ser171=)
c.503T>C
n.495T>C
c.503T>C (n.503T>C)
 dbSNP gnomAD v4
18g.52906213T>GCA503999395DCCc.582T>G (p.Ser194=)
c.383T>G
c.513T>G (p.Ser171=)
c.503T>G
n.495T>G
c.503T>G (n.503T>G)
18g.52906213T=CA2303875073DCCc.582T= (p.Ser194=)
c.383T=
c.513T= (p.Ser171=)
c.503T=
n.495T=
c.503T= (n.503T=)
18g.52906214G>ACA402513823DCCc.583G>A (p.Gly195Arg)
c.384G>A
c.514G>A (p.Gly172Arg)
c.504G>A
n.496G>A
c.504G>A (n.504G>A)
 dbSNP
18g.52906214G>CCA402513825DCCc.583G>C (p.Gly195Arg)
c.384G>C
c.514G>C (p.Gly172Arg)
c.504G>C
n.496G>C
c.504G>C (n.504G>C)
18g.52906214G>TCA402513824DCCc.583G>T (p.Gly195Ter)
c.384G>T
c.514G>T (p.Gly172Ter)
c.504G>T
n.496G>T
c.504G>T (n.504G>T)
18g.52906215G>ACA402513826DCCc.584G>A (p.Gly195Glu)
c.385G>A
c.515G>A (p.Gly172Glu)
c.505G>A
n.497G>A
c.505G>A (n.505G>A)
18g.52906215G>CCA402513827DCCc.584G>C (p.Gly195Ala)
c.385G>C
c.515G>C (p.Gly172Ala)
c.505G>C
n.497G>C
c.505G>C (n.505G>C)
18g.52906215G>TCA402513828DCCc.584G>T (p.Gly195Val)
c.385G>T
c.515G>T (p.Gly172Val)
c.505G>T
n.497G>T
c.505G>T (n.505G>T)
18g.52906216A=CA2303875074DCCc.585A= (p.Gly195=)
c.386A=
c.516A= (p.Gly172=)
c.506A=
n.498A=
c.506A= (n.506A=)
18g.52906216A>CCA503999398DCCc.585A>C (p.Gly195=)
c.386A>C
c.516A>C (p.Gly172=)
c.506A>C
n.498A>C
c.506A>C (n.506A>C)
18g.52906216A>GCA503999399DCCc.585A>G (p.Gly195=)
c.386A>G
c.516A>G (p.Gly172=)
c.506A>G
n.498A>G
c.506A>G (n.506A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906216A>TCA503999400DCCc.585A>T (p.Gly195=)
c.386A>T
c.516A>T (p.Gly172=)
c.506A>T
n.498A>T
c.506A>T (n.506A>T)
18g.52906217G>ACA402513829DCCc.586G>A (p.Ala196Thr)
c.387G>A
c.517G>A (p.Ala173Thr)
c.507G>A
n.499G>A
c.507G>A (n.507G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906217G>CCA402513830DCCc.586G>C (p.Ala196Pro)
c.387G>C
c.517G>C (p.Ala173Pro)
c.507G>C
n.499G>C
c.507G>C (n.507G>C)
18g.52906217G=CA2303875075DCCc.586G= (p.Ala196=)
c.387G=
c.517G= (p.Ala173=)
c.507G=
n.499G=
c.507G= (n.507G=)
18g.52906217G>TCA402513831DCCc.586G>T (p.Ala196Ser)
c.387G>T
c.517G>T (p.Ala173Ser)
c.507G>T
n.499G>T
c.507G>T (n.507G>T)
18g.52906218C>ACA402513832DCCc.587C>A (p.Ala196Glu)
c.388C>A
c.518C>A (p.Ala173Glu)
c.508C>A
n.500C>A
c.508C>A (n.508C>A)
18g.52906218C>GCA402513833DCCc.587C>G (p.Ala196Gly)
c.388C>G
c.518C>G (p.Ala173Gly)
c.508C>G
n.500C>G
c.508C>G (n.508C>G)
18g.52906218C>TCA402513834DCCc.587C>T (p.Ala196Val)
c.388C>T
c.518C>T (p.Ala173Val)
c.508C>T
n.500C>T
c.508C>T (n.508C>T)
18g.52906219A=CA2303875076DCCc.588A= (p.Ala196=)
c.389A=
c.519A= (p.Ala173=)
c.509A=
n.501A=
c.509A= (n.509A=)
18g.52906219A>CCA503999402DCCc.588A>C (p.Ala196=)
c.389A>C
c.519A>C (p.Ala173=)
c.509A>C
n.501A>C
c.509A>C (n.509A>C)
18g.52906219A>GCA503999403DCCc.588A>G (p.Ala196=)
c.389A>G
c.519A>G (p.Ala173=)
c.509A>G
n.501A>G
c.509A>G (n.509A>G)
 dbSNP gnomAD v4
18g.52906219A>TCA503999404DCCc.588A>T (p.Ala196=)
c.389A>T
c.519A>T (p.Ala173=)
c.509A>T
n.501A>T
c.509A>T (n.509A>T)
18g.52906220T>ACA402513835DCCc.589T>A (p.Leu197Met)
c.390T>A
c.520T>A (p.Leu174Met)
c.510T>A
n.502T>A
c.510T>A (n.510T>A)
18g.52906220T>CCA503999405DCCc.589T>C (p.Leu197=)
c.390T>C
c.520T>C (p.Leu174=)
c.510T>C
n.502T>C
c.510T>C (n.510T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906220T>GCA402513836DCCc.589T>G (p.Leu197Val)
c.390T>G
c.520T>G (p.Leu174Val)
c.510T>G
n.502T>G
c.510T>G (n.510T>G)
18g.52906220T=CA2303875077DCCc.589T= (p.Leu197=)
c.390T=
c.520T= (p.Leu174=)
c.510T=
n.502T=
c.510T= (n.510T=)
18g.52906221T>ACA402513838DCCc.590T>A (p.Leu197Ter)
c.391T>A
c.521T>A (p.Leu174Ter)
c.511T>A
n.503T>A
c.511T>A (n.511T>A)
18g.52906221T>CCA402513839DCCc.590T>C (p.Leu197Ser)
c.391T>C
c.521T>C (p.Leu174Ser)
c.511T>C
n.503T>C
c.511T>C (n.511T>C)
18g.52906221T>GCA402513837DCCc.590T>G (p.Leu197Trp)
c.391T>G
c.521T>G (p.Leu174Trp)
c.511T>G
n.503T>G
c.511T>G (n.511T>G)
18g.52906222G>ACA503999407DCCc.591G>A (p.Leu197=)
c.392G>A
c.522G>A (p.Leu174=)
c.512G>A
n.504G>A
c.512G>A (n.512G>A)
18g.52906222G>CCA402513841DCCc.591G>C (p.Leu197Phe)
c.392G>C
c.522G>C (p.Leu174Phe)
c.512G>C
n.504G>C
c.512G>C (n.512G>C)
18g.52906222G>TCA402513840DCCc.591G>T (p.Leu197Phe)
c.392G>T
c.522G>T (p.Leu174Phe)
c.512G>T
n.504G>T
c.512G>T (n.512G>T)
 COSMIC COSMIC
18g.52906223C>ACA402513842DCCc.592C>A (p.Gln198Lys)
c.393C>A
c.523C>A (p.Gln175Lys)
c.513C>A
n.505C>A
c.513C>A (n.513C>A)
 dbSNP
18g.52906223C=CA2303875078DCCc.592C= (p.Gln198=)
c.393C=
c.523C= (p.Gln175=)
c.513C=
n.505C=
c.513C= (n.513C=)
18g.52906223C>GCA402513843DCCc.592C>G (p.Gln198Glu)
c.393C>G
c.523C>G (p.Gln175Glu)
c.513C>G
n.505C>G
c.513C>G (n.513C>G)
18g.52906223C>TCA402513844DCCc.592C>T (p.Gln198Ter)
c.393C>T
c.523C>T (p.Gln175Ter)
c.513C>T
n.505C>T
c.513C>T (n.513C>T)
18g.52906224A>CCA402513845DCCc.593A>C (p.Gln198Pro)
c.394A>C
c.524A>C (p.Gln175Pro)
c.514A>C
n.506A>C
c.514A>C (n.514A>C)
18g.52906224A>GCA402513846DCCc.593A>G (p.Gln198Arg)
c.394A>G
c.524A>G (p.Gln175Arg)
c.514A>G
n.506A>G
c.514A>G (n.514A>G)
18g.52906224A>TCA402513847DCCc.593A>T (p.Gln198Leu)
c.394A>T
c.524A>T (p.Gln175Leu)
c.514A>T
n.506A>T
c.514A>T (n.514A>T)
18g.52906225G>ACA503999411DCCc.594G>A (p.Gln198=)
c.395G>A
c.525G>A (p.Gln175=)
c.515G>A
n.507G>A
c.515G>A (n.515G>A)
 gnomAD v4
18g.52906225G>CCA402513848DCCc.594G>C (p.Gln198His)
c.395G>C
c.525G>C (p.Gln175His)
c.515G>C
n.507G>C
c.515G>C (n.515G>C)
18g.52906225G>TCA402513849DCCc.594G>T (p.Gln198His)
c.395G>T
c.525G>T (p.Gln175His)
c.515G>T
n.507G>T
c.515G>T (n.515G>T)
18g.52906226A=CA2303875079DCCc.595A= (p.Ile199=)
c.396A=
c.526A= (p.Ile176=)
c.516A=
n.508A=
c.516A= (n.516A=)
18g.52906226A>CCA402513850DCCc.595A>C (p.Ile199Leu)
c.396A>C
c.526A>C (p.Ile176Leu)
c.516A>C
n.508A>C
c.516A>C (n.516A>C)
18g.52906226A>GCA300657955DCCc.595A>G (p.Ile199Val)
c.396A>G
c.526A>G (p.Ile176Val)
c.516A>G
n.508A>G
c.516A>G (n.516A>G)
 dbSNP
18g.52906226A>TCA402513851DCCc.595A>T (p.Ile199Phe)
c.396A>T
c.526A>T (p.Ile176Phe)
c.516A>T
n.508A>T
c.516A>T (n.516A>T)
18g.52906227T>ACA402513854DCCc.596T>A (p.Ile199Asn)
c.397T>A
c.527T>A (p.Ile176Asn)
c.517T>A
n.509T>A
c.517T>A (n.517T>A)
18g.52906227T>CCA402513852DCCc.596T>C (p.Ile199Thr)
c.397T>C
c.527T>C (p.Ile176Thr)
c.517T>C
n.509T>C
c.517T>C (n.517T>C)
18g.52906227T>GCA402513853DCCc.596T>G (p.Ile199Ser)
c.397T>G
c.527T>G (p.Ile176Ser)
c.517T>G
n.509T>G
c.517T>G (n.517T>G)
18g.52906228C>ACA503999416DCCc.597C>A (p.Ile199=)
c.398C>A
c.528C>A (p.Ile176=)
c.518C>A
n.510C>A
c.518C>A (n.518C>A)
18g.52906228C=CA2303875080DCCc.597C= (p.Ile199=)
c.398C=
c.528C= (p.Ile176=)
c.518C=
n.510C=
c.518C= (n.518C=)
18g.52906228C>GCA402513855DCCc.597C>G (p.Ile199Met)
c.398C>G
c.528C>G (p.Ile176Met)
c.518C>G
n.510C>G
c.518C>G (n.518C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.52906228C>TCA503999415DCCc.597C>T (p.Ile199=)
c.398C>T
c.528C>T (p.Ile176=)
c.518C>T
n.510C>T
c.518C>T (n.518C>T)
 COSMIC COSMIC
18g.52906229A>CCA402513856DCCc.598A>C (p.Ser200Arg)
c.399A>C
c.529A>C (p.Ser177Arg)
c.519A>C
n.511A>C
c.519A>C (n.519A>C)
18g.52906229A>GCA402513857DCCc.598A>G (p.Ser200Gly)
c.399A>G
c.529A>G (p.Ser177Gly)
c.519A>G
n.511A>G
c.519A>G (n.519A>G)
18g.52906229A>TCA402513858DCCc.598A>T (p.Ser200Cys)
c.399A>T
c.529A>T (p.Ser177Cys)
c.519A>T
n.511A>T
c.519A>T (n.519A>T)
18g.52906230G>ACA8966574DCCc.599G>A (p.Ser200Asn)
c.400G>A
c.530G>A (p.Ser177Asn)
c.520G>A
n.512G>A
c.520G>A (n.520G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906230G>CCA402513859DCCc.599G>C (p.Ser200Thr)
c.400G>C
c.530G>C (p.Ser177Thr)
c.520G>C
n.512G>C
c.520G>C (n.520G>C)
18g.52906230G=CA2303875081DCCc.599G= (p.Ser200=)
c.400G=
c.530G= (p.Ser177=)
c.520G=
n.512G=
c.520G= (n.520G=)
18g.52906230G>TCA402513860DCCc.599G>T (p.Ser200Ile)
c.400G>T
c.530G>T (p.Ser177Ile)
c.520G>T
n.512G>T
c.520G>T (n.520G>T)
18g.52906231C>ACA402513861DCCc.600C>A (p.Ser200Arg)
c.401C>A
c.531C>A (p.Ser177Arg)
c.521C>A
n.513C>A
c.521C>A (n.521C>A)
18g.52906231C=CA2303875082DCCc.600C= (p.Ser200=)
c.401C=
c.531C= (p.Ser177=)
c.521C=
n.513C=
c.521C= (n.521C=)
18g.52906231C>GCA402513862DCCc.600C>G (p.Ser200Arg)
c.401C>G
c.531C>G (p.Ser177Arg)
c.521C>G
n.513C>G
c.521C>G (n.521C>G)
18g.52906231C>TCA8966575DCCc.600C>T (p.Ser200=)
c.401C>T
c.531C>T (p.Ser177=)
c.521C>T
n.513C>T
c.521C>T (n.521C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>ACA503999422DCCc.601C>A (p.Arg201=)
c.402C>A
c.532C>A (p.Arg178=)
c.522C>A
n.514C>A
c.522C>A (n.522C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C=CA2303875083DCCc.601C= (p.Arg201=)
c.402C=
c.532C= (p.Arg178=)
c.522C=
n.514C=
c.522C= (n.522C=)
18g.52906232C>GCA8966576DCCc.601C>G (p.Arg201Gly)
c.402C>G
c.532C>G (p.Arg178Gly)
c.522C>G
n.514C>G
c.522C>G (n.522C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>TCA402513863DCCc.601C>T (p.Arg201Ter)
c.402C>T
c.532C>T (p.Arg178Ter)
c.522C>T
n.514C>T
c.522C>T (n.522C>T)
 dbSNP
18g.52906233G>ACA8966577DCCc.602G>A (p.Arg201Gln)
c.403G>A
c.533G>A (p.Arg178Gln)
c.523G>A
n.515G>A
c.523G>A (n.523G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906233G>CCA402513865DCCc.602G>C (p.Arg201Pro)
c.403G>C
c.533G>C (p.Arg178Pro)
c.523G>C
n.515G>C
c.523G>C (n.523G>C)
18g.52906233G=CA2303875084DCCc.602G= (p.Arg201=)
c.403G=
c.533G= (p.Arg178=)
c.523G=
n.515G=
c.523G= (n.523G=)
18g.52906233G>TCA402513864DCCc.602G>T (p.Arg201Leu)
c.403G>T
c.533G>T (p.Arg178Leu)
c.523G>T
n.515G>T
c.523G>T (n.523G>T)
18g.52906234A>CCA503999424DCCc.603A>C (p.Arg201=)
c.404A>C
c.534A>C (p.Arg178=)
c.524A>C
n.516A>C
c.524A>C (n.524A>C)
18g.52906234A>GCA503999426DCCc.603A>G (p.Arg201=)
c.404A>G
c.534A>G (p.Arg178=)
c.524A>G
n.516A>G
c.524A>G (n.524A>G)
18g.52906234A>TCA503999425DCCc.603A>T (p.Arg201=)
c.404A>T
c.534A>T (p.Arg178=)
c.524A>T
n.516A>T
c.524A>T (n.524A>T)
18g.52906235C>ACA402513866DCCc.604C>A (p.Leu202Ile)
c.405C>A
c.535C>A (p.Leu179Ile)
c.525C>A
n.517C>A
c.525C>A (n.525C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906235C=CA2303875085DCCc.604C= (p.Leu202=)
c.405C=
c.535C= (p.Leu179=)
c.525C=
n.517C=
c.525C= (n.525C=)
18g.52906235C>GCA402513867DCCc.604C>G (p.Leu202Val)
c.405C>G
c.535C>G (p.Leu179Val)
c.525C>G
n.517C>G
c.525C>G (n.525C>G)
18g.52906235C>TCA402513868DCCc.604C>T (p.Leu202Phe)
c.405C>T
c.535C>T (p.Leu179Phe)
c.525C>T
n.517C>T
c.525C>T (n.525C>T)
 dbSNP
18g.52906236T>ACA402513869DCCc.605T>A (p.Leu202His)
c.406T>A
c.536T>A (p.Leu179His)
c.526T>A
n.518T>A
c.526T>A (n.526T>A)
18g.52906236T>CCA402513870DCCc.605T>C (p.Leu202Pro)
c.406T>C
c.536T>C (p.Leu179Pro)
c.526T>C
n.518T>C
c.526T>C (n.526T>C)
 dbSNP gnomAD v2
18g.52906236T>GCA402513871DCCc.605T>G (p.Leu202Arg)
c.406T>G
c.536T>G (p.Leu179Arg)
c.526T>G
n.518T>G
c.526T>G (n.526T>G)
18g.52906236T=CA2303875086DCCc.605T= (p.Leu202=)
c.406T=
c.536T= (p.Leu179=)
c.526T=
n.518T=
c.526T= (n.526T=)
18g.52906237C>ACA503999427DCCc.606C>A (p.Leu202=)
c.407C>A
c.537C>A (p.Leu179=)
c.527C>A
n.519C>A
c.527C>A (n.527C>A)
18g.52906237C>GCA503999428DCCc.606C>G (p.Leu202=)
c.407C>G
c.537C>G (p.Leu179=)
c.527C>G
n.519C>G
c.527C>G (n.527C>G)
18g.52906237C>TCA503999429DCCc.606C>T (p.Leu202=)
c.407C>T
c.537C>T (p.Leu179=)
c.527C>T
n.519C>T
c.527C>T (n.527C>T)
 gnomAD v3 gnomAD v4
18g.52906238C>ACA402513872DCCc.607C>A (p.Gln203Lys)
c.408C>A
c.538C>A (p.Gln180Lys)
c.528C>A
n.520C>A
c.528C>A (n.528C>A)
18g.52906238C>GCA402513873DCCc.607C>G (p.Gln203Glu)
c.408C>G
c.538C>G (p.Gln180Glu)
c.528C>G
n.520C>G
c.528C>G (n.528C>G)
18g.52906238C>TCA402513874DCCc.607C>T (p.Gln203Ter)
c.408C>T
c.538C>T (p.Gln180Ter)
c.528C>T
n.520C>T
c.528C>T (n.528C>T)
 COSMIC COSMIC
18g.52906239A=CA2303875087DCCc.608A= (p.Gln203=)
c.409A=
c.539A= (p.Gln180=)
c.529A=
n.521A=
c.529A= (n.529A=)
18g.52906239A>CCA402513875DCCc.608A>C (p.Gln203Pro)
c.409A>C
c.539A>C (p.Gln180Pro)
c.529A>C
n.521A>C
c.529A>C (n.529A>C)
18g.52906239A>GCA402513876DCCc.608A>G (p.Gln203Arg)
c.409A>G
c.539A>G (p.Gln180Arg)
c.529A>G
n.521A>G
c.529A>G (n.529A>G)
 COSMIC
18g.52906239A>TCA300657956DCCc.608A>T (p.Gln203Leu)
c.409A>T
c.539A>T (p.Gln180Leu)
c.529A>T
n.521A>T
c.529A>T (n.529A>T)
 dbSNP
18g.52906240A=CA2303875088DCCc.609A= (p.Gln203=)
c.410A=
c.540A= (p.Gln180=)
c.530A=
n.522A=
c.530A= (n.530A=)
18g.52906240A>CCA402513878DCCc.609A>C (p.Gln203His)
c.410A>C
c.540A>C (p.Gln180His)
c.530A>C
n.522A>C
c.530A>C (n.530A>C)
18g.52906240A>GCA8966578DCCc.609A>G (p.Gln203=)
c.410A>G
c.540A>G (p.Gln180=)
c.530A>G
n.522A>G
c.530A>G (n.530A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906240A>TCA402513877DCCc.609A>T (p.Gln203His)
c.410A>T
c.540A>T (p.Gln180His)
c.530A>T
n.522A>T
c.530A>T (n.530A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906241C>ACA402513879DCCc.610C>A (p.Pro204Thr)
c.411C>A
c.541C>A (p.Pro181Thr)
c.531C>A
n.523C>A
c.531C>A (n.531C>A)
 dbSNP gnomAD v4
18g.52906241C=CA2303875089DCCc.610C= (p.Pro204=)
c.411C=
c.541C= (p.Pro181=)
c.531C=
n.523C=
c.531C= (n.531C=)
18g.52906241C>GCA8966579DCCc.610C>G (p.Pro204Ala)
c.411C>G
c.541C>G (p.Pro181Ala)
c.531C>G
n.523C>G
c.531C>G (n.531C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906241C>TCA402513880DCCc.610C>T (p.Pro204Ser)
c.411C>T
c.541C>T (p.Pro181Ser)
c.531C>T
n.523C>T
c.531C>T (n.531C>T)
18g.52906242C>ACA402513881DCCc.611C>A (p.Pro204Gln)
c.412C>A
c.542C>A (p.Pro181Gln)
c.532C>A
n.524C>A
c.532C>A (n.532C>A)
18g.52906242C=CA2303875090DCCc.611C= (p.Pro204=)
c.412C=
c.542C= (p.Pro181=)
c.532C=
n.524C=
c.532C= (n.532C=)
18g.52906242C>GCA8966580DCCc.611C>G (p.Pro204Arg)
c.412C>G
c.542C>G (p.Pro181Arg)
c.532C>G
n.524C>G
c.532C>G (n.532C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906242C>TCA402513882DCCc.611C>T (p.Pro204Leu)
c.412C>T
c.542C>T (p.Pro181Leu)
c.532C>T
n.524C>T
c.532C>T (n.532C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906243G>ACA8966581DCCc.612G>A (p.Pro204=)
c.413G>A
c.543G>A (p.Pro181=)
c.533G>A
n.525G>A
c.533G>A (n.533G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906243G>CCA8966582DCCc.612G>C (p.Pro204=)
c.413G>C
c.543G>C (p.Pro181=)
c.533G>C
n.525G>C
c.533G>C (n.533G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906243G=CA2303875091DCCc.612G= (p.Pro204=)
c.413G=
c.543G= (p.Pro181=)
c.533G=
n.525G=
c.533G= (n.533G=)
18g.52906243G>TCA503999431DCCc.612G>T (p.Pro204=)
c.413G>T
c.543G>T (p.Pro181=)
c.533G>T
n.525G>T
c.533G>T (n.533G>T)
18g.52906247delCA645618248DCCc.616del (p.Asp206ThrfsTer?)
c.417del
c.547del (p.Asp183ThrfsTer?)
c.537del
n.529del
c.537del (n.537del)
 COSMIC COSMIC
18g.52906244G>ACA402513883DCCc.613G>A (p.Gly205Arg)
c.414G>A
c.544G>A (p.Gly182Arg)
c.534G>A
n.526G>A
c.534G>A (n.534G>A)
 dbSNP
18g.52906244G>CCA8966583DCCc.613G>C (p.Gly205Arg)
c.414G>C
c.544G>C (p.Gly182Arg)
c.534G>C
n.526G>C
c.534G>C (n.534G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906244G=CA2303875092DCCc.613G= (p.Gly205=)
c.414G=
c.544G= (p.Gly182=)
c.534G=
n.526G=
c.534G= (n.534G=)
18g.52906244G>TCA402513884DCCc.613G>T (p.Gly205Trp)
c.414G>T
c.544G>T (p.Gly182Trp)
c.534G>T
n.526G>T
c.534G>T (n.534G>T)
18g.52906245G>ACA402513885DCCc.614G>A (p.Gly205Glu)
c.415G>A
c.545G>A (p.Gly182Glu)
c.535G>A
n.527G>A
c.535G>A (n.535G>A)
 COSMIC COSMIC
18g.52906245G>CCA402513886DCCc.614G>C (p.Gly205Ala)
c.415G>C
c.545G>C (p.Gly182Ala)
c.535G>C
n.527G>C
c.535G>C (n.535G>C)
 gnomAD v4
18g.52906245G>TCA402513887DCCc.614G>T (p.Gly205Val)
c.415G>T
c.545G>T (p.Gly182Val)
c.535G>T
n.527G>T
c.535G>T (n.535G>T)
18g.52906246G>ACA503999434DCCc.615G>A (p.Gly205=)
c.416G>A
c.546G>A (p.Gly182=)
c.536G>A
n.528G>A
c.536G>A (n.536G>A)
 gnomAD v4
18g.52906246G>CCA8966584DCCc.615G>C (p.Gly205=)
c.416G>C
c.546G>C (p.Gly182=)
c.536G>C
n.528G>C
c.536G>C (n.536G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906246G=CA2303875093DCCc.615G= (p.Gly205=)
c.416G=
c.546G= (p.Gly182=)
c.536G=
n.528G=
c.536G= (n.536G=)
18g.52906246G>TCA503999435DCCc.615G>T (p.Gly205=)
c.416G>T
c.546G>T (p.Gly182=)
c.536G>T
n.528G>T
c.536G>T (n.536G>T)
18g.52906247G>ACA402513889DCCc.616G>A (p.Asp206Asn)
c.417G>A
c.547G>A (p.Asp183Asn)
c.537G>A
n.529G>A
c.537G>A (n.537G>A)
 dbSNP
18g.52906247G>CCA402513890DCCc.616G>C (p.Asp206His)
c.417G>C
c.547G>C (p.Asp183His)
c.537G>C
n.529G>C
c.537G>C (n.537G>C)
18g.52906247G=CA2303875094DCCc.616G= (p.Asp206=)
c.417G=
c.547G= (p.Asp183=)
c.537G=
n.529G=
c.537G= (n.537G=)
18g.52906247G>TCA402513888DCCc.616G>T (p.Asp206Tyr)
c.417G>T
c.547G>T (p.Asp183Tyr)
c.537G>T
n.529G>T
c.537G>T (n.537G>T)
18g.52906248A>CCA402513893DCCc.617A>C (p.Asp206Ala)
c.418A>C
c.548A>C (p.Asp183Ala)
c.538A>C
n.530A>C
c.538A>C (n.538A>C)
18g.52906248A>GCA402513891DCCc.617A>G (p.Asp206Gly)
c.418A>G
c.548A>G (p.Asp183Gly)
c.538A>G
n.530A>G
c.538A>G (n.538A>G)
18g.52906248A>TCA402513892DCCc.617A>T (p.Asp206Val)
c.418A>T
c.548A>T (p.Asp183Val)
c.538A>T
n.530A>T
c.538A>T (n.538A>T)
 ClinVar
18g.52906249C>ACA402513894DCCc.618C>A (p.Asp206Glu)
c.419C>A
c.549C>A (p.Asp183Glu)
c.539C>A
n.531C>A
c.539C>A (n.539C>A)
18g.52906249C>GCA402513895DCCc.618C>G (p.Asp206Glu)
c.419C>G
c.549C>G (p.Asp183Glu)
c.539C>G
n.531C>G
c.539C>G (n.539C>G)
18g.52906249C>TCA503999439DCCc.618C>T (p.Asp206=)
c.419C>T
c.549C>T (p.Asp183=)
c.539C>T
n.531C>T
c.539C>T (n.539C>T)
18g.52906250A=CA2303875095DCCc.619A= (p.Ile207=)
c.420A=
c.550A= (p.Ile184=)
c.540A=
n.532A=
c.540A= (n.540A=)
18g.52906250A>CCA402513896DCCc.619A>C (p.Ile207Leu)
c.420A>C
c.550A>C (p.Ile184Leu)
c.540A>C
n.532A>C
c.540A>C (n.540A>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906250A>GCA8966585DCCc.619A>G (p.Ile207Val)
c.420A>G
c.550A>G (p.Ile184Val)
c.540A>G
n.532A>G
c.540A>G (n.540A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906250A>TCA402513897DCCc.619A>T (p.Ile207Phe)
c.420A>T
c.550A>T (p.Ile184Phe)
c.540A>T
n.532A>T
c.540A>T (n.540A>T)
18g.52906251T>ACA402513898DCCc.620T>A (p.Ile207Asn)
c.421T>A
c.551T>A (p.Ile184Asn)
c.541T>A
n.533T>A
c.541T>A (n.541T>A)
18g.52906251T>CCA8966586DCCc.620T>C (p.Ile207Thr)
c.421T>C
c.551T>C (p.Ile184Thr)
c.541T>C
n.533T>C
c.541T>C (n.541T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906251T>GCA402513899DCCc.620T>G (p.Ile207Ser)
c.421T>G
c.551T>G (p.Ile184Ser)
c.541T>G
n.533T>G
c.541T>G (n.541T>G)
18g.52906251T=CA2303875096DCCc.620T= (p.Ile207=)
c.421T=
c.551T= (p.Ile184=)
c.541T=
n.533T=
c.541T= (n.541T=)
18g.52906252T>ACA503999441DCCc.621T>A (p.Ile207=)
c.422T>A
c.552T>A (p.Ile184=)
c.542T>A
n.534T>A
c.542T>A (n.542T>A)
18g.52906252T>CCA503999442DCCc.621T>C (p.Ile207=)
c.422T>C
c.552T>C (p.Ile184=)
c.542T>C
n.534T>C
c.542T>C (n.542T>C)
18g.52906252T>GCA402513900DCCc.621T>G (p.Ile207Met)
c.422T>G
c.552T>G (p.Ile184Met)
c.542T>G
n.534T>G
c.542T>G (n.542T>G)
18g.52906253G>ACA402513901DCCc.622G>A (p.Gly208Arg)
c.423G>A
c.553G>A (p.Gly185Arg)
c.543G>A
n.535G>A
c.543G>A (n.543G>A)
 COSMIC COSMIC
18g.52906253G>CCA402513902DCCc.622G>C (p.Gly208Arg)
c.423G>C
c.553G>C (p.Gly185Arg)
c.543G>C
n.535G>C
c.543G>C (n.543G>C)
18g.52906253G>TCA402513903DCCc.622G>T (p.Gly208Ter)
c.423G>T
c.553G>T (p.Gly185Ter)
c.543G>T
n.535G>T
c.543G>T (n.543G>T)
18g.52906254dupCA2839467915DCCc.623dup (p.Ile209AsnfsTer17)
c.424dup
c.554dup (p.Ile186AsnfsTer17)
c.544dup
n.536dup
c.544dup (n.544dup)
18g.52906254G>ACA402513906DCCc.623G>A (p.Gly208Glu)
c.424G>A
c.554G>A (p.Gly185Glu)
c.544G>A
n.536G>A
c.544G>A (n.544G>A)
18g.52906254G>CCA402513904DCCc.623G>C (p.Gly208Ala)
c.424G>C
c.554G>C (p.Gly185Ala)
c.544G>C
n.536G>C
c.544G>C (n.544G>C)
18g.52906254G>TCA402513905DCCc.623G>T (p.Gly208Val)
c.424G>T
c.554G>T (p.Gly185Val)
c.544G>T
n.536G>T
c.544G>T (n.544G>T)
18g.52906255A>CCA503999446DCCc.624A>C (p.Gly208=)
c.425A>C
c.555A>C (p.Gly185=)
c.545A>C
n.537A>C
c.545A>C (n.545A>C)
18g.52906255A>GCA503999447DCCc.624A>G (p.Gly208=)
c.425A>G
c.555A>G (p.Gly185=)
c.545A>G
n.537A>G
c.545A>G (n.545A>G)
 gnomAD v3 gnomAD v4
18g.52906255A>TCA503999448DCCc.624A>T (p.Gly208=)
c.425A>T
c.555A>T (p.Gly185=)
c.545A>T
n.537A>T
c.545A>T (n.545A>T)
18g.52906256A=CA2303875097DCCc.625A= (p.Ile209=)
c.426A=
c.556A= (p.Ile186=)
c.546A=
n.538A=
c.546A= (n.546A=)
18g.52906256A>CCA402513907DCCc.625A>C (p.Ile209Leu)
c.426A>C
c.556A>C (p.Ile186Leu)
c.546A>C
n.538A>C
c.546A>C (n.546A>C)
18g.52906256A>GCA402513908DCCc.625A>G (p.Ile209Val)
c.426A>G
c.556A>G (p.Ile186Val)
c.546A>G
n.538A>G
c.546A>G (n.546A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906256A>TCA402513909DCCc.625A>T (p.Ile209Phe)
c.426A>T
c.556A>T (p.Ile186Phe)
c.546A>T
n.538A>T
c.546A>T (n.546A>T)
18g.52906257T>ACA402513910DCCc.626T>A (p.Ile209Asn)
c.427T>A
c.557T>A (p.Ile186Asn)
c.547T>A
n.539T>A
18g.52906257T>CCA402513911DCCc.626T>C (p.Ile209Thr)
c.427T>C
c.557T>C (p.Ile186Thr)
c.547T>C
n.539T>C
 gnomAD v4
18g.52906257T>GCA402513912DCCc.626T>G (p.Ile209Ser)
c.427T>G
c.557T>G (p.Ile186Ser)
c.547T>G
n.539T>G
18g.52906258T>ACA503999449DCCc.627T>A (p.Ile209=)
c.428T>A
c.558T>A (p.Ile186=)
c.548T>A
n.540T>A
18g.52906258T>CCA503999450DCCc.627T>C (p.Ile209=)
c.428T>C
c.558T>C (p.Ile186=)
c.548T>C
n.540T>C
 gnomAD v3 gnomAD v4
18g.52906258T>GCA402513913DCCc.627T>G (p.Ile209Met)
c.428T>G
c.558T>G (p.Ile186Met)
c.548T>G
n.540T>G
18g.52906259T>ACA402513914DCCc.628T>A (p.Tyr210Asn)
c.429T>A
c.559T>A (p.Tyr187Asn)
c.549T>A
n.541T>A
18g.52906259T>CCA402513915DCCc.628T>C (p.Tyr210His)
c.429T>C
c.559T>C (p.Tyr187His)
c.549T>C
n.541T>C
18g.52906259T>GCA402513916DCCc.628T>G (p.Tyr210Asp)
c.429T>G
c.559T>G (p.Tyr187Asp)
c.549T>G
n.541T>G
 ClinVar dbSNP
18g.52906260A>CCA402513917DCCc.629A>C (p.Tyr210Ser)
c.430A>C
c.560A>C (p.Tyr187Ser)
c.550A>C
n.542A>C
18g.52906260A>GCA402513918DCCc.629A>G (p.Tyr210Cys)
c.430A>G
c.560A>G (p.Tyr187Cys)
c.550A>G
n.542A>G
18g.52906260A>TCA402513919DCCc.629A>T (p.Tyr210Phe)
c.430A>T
c.560A>T (p.Tyr187Phe)
c.550A>T
n.542A>T
18g.52906261C>ACA402513920DCCc.630C>A (p.Tyr210Ter)
c.431C>A
c.561C>A (p.Tyr187Ter)
c.551C>A
n.543C>A
18g.52906261C=CA2303875098DCCc.630C= (p.Tyr210=)
c.431C=
c.561C= (p.Tyr187=)
c.551C=
n.543C=
18g.52906261C>GCA402513921DCCc.630C>G (p.Tyr210Ter)
c.431C>G
c.561C>G (p.Tyr187Ter)
c.551C>G
n.543C>G
18g.52906261C>TCA8966587DCCc.630C>T (p.Tyr210=)
c.431C>T
c.561C>T (p.Tyr187=)
c.551C>T
n.543C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906262C>ACA503999455DCCc.631C>A (p.Arg211=)
c.432C>A
c.562C>A (p.Arg188=)
c.552C>A
n.544C>A
18g.52906262C=CA2303875099DCCc.631C= (p.Arg211=)
c.432C=
c.562C= (p.Arg188=)
c.552C=
n.544C=
18g.52906262C>GCA402513922DCCc.631C>G (p.Arg211Gly)
c.432C>G
c.562C>G (p.Arg188Gly)
c.552C>G
n.544C>G
 gnomAD v4
18g.52906262C>TCA402513923DCCc.631C>T (p.Arg211Ter)
c.432C>T
c.562C>T (p.Arg188Ter)
c.552C>T
n.544C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.52906263G>ACA8966588DCCc.632G>A (p.Arg211Gln)
c.433G>A
c.563G>A (p.Arg188Gln)
c.553G>A
n.545G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906263G>CCA402513924DCCc.632G>C (p.Arg211Pro)
c.433G>C
c.563G>C (p.Arg188Pro)
c.553G>C
n.545G>C
 ClinVar
18g.52906263G=CA2303875100DCCc.632G= (p.Arg211=)
c.433G=
c.563G= (p.Arg188=)
c.553G=
n.545G=
18g.52906263G>TCA402513925DCCc.632G>T (p.Arg211Leu)
c.433G>T
c.563G>T (p.Arg188Leu)
c.553G>T
n.545G>T
 dbSNP
18g.52906264A>CCA503999457DCCc.633A>C (p.Arg211=)
c.434A>C
c.564A>C (p.Arg188=)
c.554A>C
n.546A>C
18g.52906264A>GCA503999458DCCc.633A>G (p.Arg211=)
c.434A>G
c.564A>G (p.Arg188=)
c.554A>G
n.546A>G
18g.52906264A>TCA503999460DCCc.633A>T (p.Arg211=)
c.434A>T
c.564A>T (p.Arg188=)
c.554A>T
n.546A>T
18g.52906265T>ACA402513926DCCc.634T>A (p.Cys212Ser)
c.435T>A
c.565T>A (p.Cys189Ser)
c.555T>A
n.547T>A
18g.52906265T>CCA402513927DCCc.634T>C (p.Cys212Arg)
c.435T>C
c.565T>C (p.Cys189Arg)
c.555T>C
n.547T>C
 gnomAD v4
18g.52906265T>GCA402513928DCCc.634T>G (p.Cys212Gly)
c.435T>G
c.565T>G (p.Cys189Gly)
c.555T>G
n.547T>G
18g.52906266G>ACA402513929DCCc.635G>A (p.Cys212Tyr)
c.436G>A
c.566G>A (p.Cys189Tyr)
c.556G>A
n.548G>A
18g.52906266G>CCA402513930DCCc.635G>C (p.Cys212Ser)
c.436G>C
c.566G>C (p.Cys189Ser)
c.556G>C
n.548G>C
18g.52906266G>TCA402513931DCCc.635G>T (p.Cys212Phe)
c.436G>T
c.566G>T (p.Cys189Phe)
c.556G>T
n.548G>T
18g.52906267C>ACA402513932DCCc.636C>A (p.Cys212Ter)
c.437C>A
c.567C>A (p.Cys189Ter)
c.557C>A
n.549C>A
18g.52906267C=CA2303875101DCCc.636C= (p.Cys212=)
c.437C=
c.567C= (p.Cys189=)
c.557C=
n.549C=
18g.52906267C>GCA402513933DCCc.636C>G (p.Cys212Trp)
c.437C>G
c.567C>G (p.Cys189Trp)
c.557C>G
n.549C>G
18g.52906267C>TCA503999464DCCc.636C>T (p.Cys212=)
c.437C>T
c.567C>T (p.Cys189=)
c.557C>T
n.549C>T
 dbSNP gnomAD v3 gnomAD v4
18g.52906268T>ACA402513934DCCc.637T>A (p.Ser213Thr)
c.438T>A
c.568T>A (p.Ser190Thr)
c.558T>A
 COSMIC COSMIC
18g.52906268T>CCA402513936DCCc.637T>C (p.Ser213Pro)
c.438T>C
c.568T>C (p.Ser190Pro)
c.558T>C
18g.52906268T>GCA402513935DCCc.637T>G (p.Ser213Ala)
c.438T>G
c.568T>G (p.Ser190Ala)
c.558T>G
18g.52906269C>ACA402513937DCCc.638C>A (p.Ser213Ter)
c.439C>A
c.569C>A (p.Ser190Ter)
c.559C>A
18g.52906269C>GCA402513938DCCc.638C>G (p.Ser213Ter)
c.439C>G
c.569C>G (p.Ser190Ter)
c.559C>G
18g.52906269C>TCA402513939DCCc.638C>T (p.Ser213Leu)
c.439C>T
c.569C>T (p.Ser190Leu)
c.559C>T
 gnomAD v3 gnomAD v4
18g.52906270A>CCA503999469DCCc.639A>C (p.Ser213=)
c.440A>C
c.570A>C (p.Ser190=)
c.560A>C
18g.52906270A>GCA503999468DCCc.639A>G (p.Ser213=)
c.440A>G
c.570A>G (p.Ser190=)
c.560A>G
 gnomAD v4
18g.52906270A>TCA503999467DCCc.639A>T (p.Ser213=)
c.440A>T
c.570A>T (p.Ser190=)
c.560A>T
18g.52906271G>ACA402513940DCCc.640G>A (p.Ala214Thr)
c.441G>A
c.571G>A (p.Ala191Thr)
c.561G>A
18g.52906271G>CCA402513941DCCc.640G>C (p.Ala214Pro)
c.441G>C
c.571G>C (p.Ala191Pro)
c.561G>C
18g.52906271G>TCA402513942DCCc.640G>T (p.Ala214Ser)
c.441G>T
c.571G>T (p.Ala191Ser)
c.561G>T
18g.52906272C>ACA402513943DCCc.641C>A (p.Ala214Asp)
c.442C>A
c.572C>A (p.Ala191Asp)
c.562C>A
18g.52906272C>GCA402513944DCCc.641C>G (p.Ala214Gly)
c.442C>G
c.572C>G (p.Ala191Gly)
c.562C>G
18g.52906272C>TCA402513945DCCc.641C>T (p.Ala214Val)
c.442C>T
c.572C>T (p.Ala191Val)
c.562C>T
 gnomAD v4
18g.52906273T>ACA503999473DCCc.642T>A (p.Ala214=)
c.443T>A
c.573T>A (p.Ala191=)
c.563T>A
18g.52906273T>CCA503999472DCCc.642T>C (p.Ala214=)
c.443T>C
c.573T>C (p.Ala191=)
c.563T>C
 gnomAD v3 gnomAD v4
18g.52906273T>GCA503999471DCCc.642T>G (p.Ala214=)
c.443T>G
c.573T>G (p.Ala191=)
c.563T>G
18g.52906274C>ACA503999474DCCc.643C>A (p.Arg215=)
c.444C>A
c.574C>A (p.Arg192=)
c.564C>A
18g.52906274C=CA2303875102DCCc.643C= (p.Arg215=)
c.444C=
c.574C= (p.Arg192=)
c.564C=
18g.52906274C>GCA402513946DCCc.643C>G (p.Arg215Gly)
c.444C>G
c.574C>G (p.Arg192Gly)
c.564C>G
 dbSNP gnomAD v3 gnomAD v4
18g.52906274C>TCA402513947DCCc.643C>T (p.Arg215Ter)
c.444C>T
c.574C>T (p.Arg192Ter)
c.564C>T
 ClinVar dbSNP COSMIC COSMIC
18g.52906275G>ACA8966590DCCc.644G>A (p.Arg215Gln)
c.445G>A
c.575G>A (p.Arg192Gln)
c.565G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.52906275G>CCA402513948DCCc.644G>C (p.Arg215Pro)
c.445G>C
c.575G>C (p.Arg192Pro)
c.565G>C
 gnomAD v4
18g.52906275G=CA2303875103DCCc.644G= (p.Arg215=)
c.445G=
c.575G= (p.Arg192=)
c.565G=
18g.52906275G>TCA8966589DCCc.644G>T (p.Arg215Leu)
c.445G>T
c.575G>T (p.Arg192Leu)
c.565G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906276A>CCA503999478DCCc.645A>C (p.Arg215=)
c.446A>C
c.576A>C (p.Arg192=)
c.566A>C
18g.52906276A>GCA503999480DCCc.645A>G (p.Arg215=)
c.446A>G
c.576A>G (p.Arg192=)
c.566A>G
 gnomAD v3 gnomAD v4
18g.52906276A>TCA503999479DCCc.645A>T (p.Arg215=)
c.446A>T
c.576A>T (p.Arg192=)
c.566A>T

Number of alleles fetched