Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.113089397C>A | CA378532571 | TCF7L2 | c.483+49271C>A (n.483+49271C>A) c.552+49271C>A (n.552+49271C>A) c.484-3C>A (n.484-3C>A) c.394-3C>A (n.394-3C>A) c.484C>A (p.Gln162Lys) c.382-51787C>A (n.382-51787C>A) c.166C>A (p.Gln56Lys) c.553C>A (p.Gln185Lys) c.553-3C>A (n.553-3C>A) c.94C>A (p.Gln32Lys) | |
10 | g.113089397C= | CA1937197419 | TCF7L2 | c.483+49271C= (n.483+49271C=) c.552+49271C= (n.552+49271C=) c.484-3C= (n.484-3C=) c.394-3C= (n.394-3C=) c.484C= (p.Gln162=) c.382-51787C= (n.382-51787C=) c.166C= (p.Gln56=) c.553C= (p.Gln185=) c.553-3C= (n.553-3C=) c.94C= (p.Gln32=) | |
10 | g.113089397C>G | CA378532572 | TCF7L2 | c.483+49271C>G (n.483+49271C>G) c.552+49271C>G (n.552+49271C>G) c.484-3C>G (n.484-3C>G) c.394-3C>G (n.394-3C>G) c.484C>G (p.Gln162Glu) c.382-51787C>G (n.382-51787C>G) c.166C>G (p.Gln56Glu) c.553C>G (p.Gln185Glu) c.553-3C>G (n.553-3C>G) c.94C>G (p.Gln32Glu) | |
10 | g.113089397C>T | CA378532573 | TCF7L2 | c.483+49271C>T (n.483+49271C>T) c.552+49271C>T (n.552+49271C>T) c.484-3C>T (n.484-3C>T) c.394-3C>T (n.394-3C>T) c.484C>T (p.Gln162Ter) c.382-51787C>T (n.382-51787C>T) c.166C>T (p.Gln56Ter) c.553C>T (p.Gln185Ter) c.553-3C>T (n.553-3C>T) c.94C>T (p.Gln32Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089398A>C | CA378532574 | TCF7L2 | c.483+49272A>C (n.483+49272A>C) c.552+49272A>C (n.552+49272A>C) c.484-2A>C (n.484-2A>C) c.394-2A>C (n.394-2A>C) c.485A>C (p.Gln162Pro) c.382-51786A>C (n.382-51786A>C) c.167A>C (p.Gln56Pro) c.554A>C (p.Gln185Pro) c.553-2A>C (n.553-2A>C) c.95A>C (p.Gln32Pro) | |
10 | g.113089398A>G | CA378532575 | TCF7L2 | c.483+49272A>G (n.483+49272A>G) c.552+49272A>G (n.552+49272A>G) c.484-2A>G (n.484-2A>G) c.394-2A>G (n.394-2A>G) c.485A>G (p.Gln162Arg) c.382-51786A>G (n.382-51786A>G) c.167A>G (p.Gln56Arg) c.554A>G (p.Gln185Arg) c.553-2A>G (n.553-2A>G) c.95A>G (p.Gln32Arg) | |
10 | g.113089398A>T | CA378532576 | TCF7L2 | c.483+49272A>T (n.483+49272A>T) c.552+49272A>T (n.552+49272A>T) c.484-2A>T (n.484-2A>T) c.394-2A>T (n.394-2A>T) c.485A>T (p.Gln162Leu) c.382-51786A>T (n.382-51786A>T) c.167A>T (p.Gln56Leu) c.554A>T (p.Gln185Leu) c.553-2A>T (n.553-2A>T) c.95A>T (p.Gln32Leu) | |
10 | g.113089399G>A | CA378532578 | TCF7L2 | c.483+49273G>A (n.483+49273G>A) c.552+49273G>A (n.552+49273G>A) c.484-1G>A (n.484-1G>A) c.394-1G>A (n.394-1G>A) c.486G>A (p.Gln162=) c.382-51785G>A (n.382-51785G>A) c.168G>A (p.Gln56=) c.555G>A (p.Gln185=) c.553-1G>A (n.553-1G>A) c.96G>A (p.Gln32=) | |
10 | g.113089399G>C | CA378532579 | TCF7L2 | c.483+49273G>C (n.483+49273G>C) c.552+49273G>C (n.552+49273G>C) c.484-1G>C (n.484-1G>C) c.394-1G>C (n.394-1G>C) c.486G>C (p.Gln162His) c.382-51785G>C (n.382-51785G>C) c.168G>C (p.Gln56His) c.555G>C (p.Gln185His) c.553-1G>C (n.553-1G>C) c.96G>C (p.Gln32His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089399G= | CA1937197420 | TCF7L2 | c.483+49273G= (n.483+49273G=) c.552+49273G= (n.552+49273G=) c.484-1G= (n.484-1G=) c.394-1G= (n.394-1G=) c.486G= (p.Gln162=) c.382-51785G= (n.382-51785G=) c.168G= (p.Gln56=) c.555G= (p.Gln185=) c.553-1G= (n.553-1G=) c.96G= (p.Gln32=) | |
10 | g.113089399G>T | CA378532577 | TCF7L2 | c.483+49273G>T (n.483+49273G>T) c.552+49273G>T (n.552+49273G>T) c.484-1G>T (n.484-1G>T) c.394-1G>T (n.394-1G>T) c.486G>T (p.Gln162His) c.382-51785G>T (n.382-51785G>T) c.168G>T (p.Gln56His) c.555G>T (p.Gln185His) c.553-1G>T (n.553-1G>T) c.96G>T (p.Gln32His) | |
10 | g.113089400A>C | CA378532581 | TCF7L2 | c.483+49274A>C (n.483+49274A>C) c.552+49274A>C (n.552+49274A>C) c.484A>C (p.Ser162Arg) c.394A>C (p.Ser132Arg) c.487A>C (p.Ser163Arg) c.382-51784A>C (n.382-51784A>C) c.169A>C (p.Ser57Arg) c.556A>C (p.Ser186Arg) c.553A>C (p.Ser185Arg) c.97A>C (p.Ser33Arg) | |
10 | g.113089400A>G | CA378532580 | TCF7L2 | c.483+49274A>G (n.483+49274A>G) c.552+49274A>G (n.552+49274A>G) c.484A>G (p.Ser162Gly) c.394A>G (p.Ser132Gly) c.487A>G (p.Ser163Gly) c.382-51784A>G (n.382-51784A>G) c.169A>G (p.Ser57Gly) c.556A>G (p.Ser186Gly) c.553A>G (p.Ser185Gly) c.97A>G (p.Ser33Gly) | |
10 | g.113089400A>T | CA378532582 | TCF7L2 | c.483+49274A>T (n.483+49274A>T) c.552+49274A>T (n.552+49274A>T) c.484A>T (p.Ser162Cys) c.394A>T (p.Ser132Cys) c.487A>T (p.Ser163Cys) c.382-51784A>T (n.382-51784A>T) c.169A>T (p.Ser57Cys) c.556A>T (p.Ser186Cys) c.553A>T (p.Ser185Cys) c.97A>T (p.Ser33Cys) | |
10 | g.113089401G>A | CA378532583 | TCF7L2 | c.483+49275G>A (n.483+49275G>A) c.552+49275G>A (n.552+49275G>A) c.485G>A (p.Ser162Asn) c.395G>A (p.Ser132Asn) c.488G>A (p.Ser163Asn) c.382-51783G>A (n.382-51783G>A) c.170G>A (p.Ser57Asn) c.557G>A (p.Ser186Asn) c.554G>A (p.Ser185Asn) c.98G>A (p.Ser33Asn) | dbSNP |
10 | g.113089401G>C | CA378532585 | TCF7L2 | c.483+49275G>C (n.483+49275G>C) c.552+49275G>C (n.552+49275G>C) c.485G>C (p.Ser162Thr) c.395G>C (p.Ser132Thr) c.488G>C (p.Ser163Thr) c.382-51783G>C (n.382-51783G>C) c.170G>C (p.Ser57Thr) c.557G>C (p.Ser186Thr) c.554G>C (p.Ser185Thr) c.98G>C (p.Ser33Thr) | |
10 | g.113089401G= | CA1937197421 | TCF7L2 | c.483+49275G= (n.483+49275G=) c.552+49275G= (n.552+49275G=) c.485G= (p.Ser162=) c.395G= (p.Ser132=) c.488G= (p.Ser163=) c.382-51783G= (n.382-51783G=) c.170G= (p.Ser57=) c.557G= (p.Ser186=) c.554G= (p.Ser185=) c.98G= (p.Ser33=) | |
10 | g.113089401G>T | CA378532584 | TCF7L2 | c.483+49275G>T (n.483+49275G>T) c.552+49275G>T (n.552+49275G>T) c.485G>T (p.Ser162Ile) c.395G>T (p.Ser132Ile) c.488G>T (p.Ser163Ile) c.382-51783G>T (n.382-51783G>T) c.170G>T (p.Ser57Ile) c.557G>T (p.Ser186Ile) c.554G>T (p.Ser185Ile) c.98G>T (p.Ser33Ile) | |
10 | g.113089402C>A | CA378532586 | TCF7L2 | c.483+49276C>A (n.483+49276C>A) c.552+49276C>A (n.552+49276C>A) c.486C>A (p.Ser162Arg) c.396C>A (p.Ser132Arg) c.489C>A (p.Ser163Arg) c.382-51782C>A (n.382-51782C>A) c.171C>A (p.Ser57Arg) c.558C>A (p.Ser186Arg) c.555C>A (p.Ser185Arg) c.99C>A (p.Ser33Arg) | |
10 | g.113089402C>G | CA378532587 | TCF7L2 | c.483+49276C>G (n.483+49276C>G) c.552+49276C>G (n.552+49276C>G) c.486C>G (p.Ser162Arg) c.396C>G (p.Ser132Arg) c.489C>G (p.Ser163Arg) c.382-51782C>G (n.382-51782C>G) c.171C>G (p.Ser57Arg) c.558C>G (p.Ser186Arg) c.555C>G (p.Ser185Arg) c.99C>G (p.Ser33Arg) | COSMIC |
10 | g.113089406dup | CA2789527753 | TCF7L2 | c.483+49280dup (n.483+49280dup) c.552+49280dup (n.552+49280dup) c.490dup (p.Leu164ProfsTer9) c.400dup (p.Leu134ProfsTer9) c.493dup (p.Leu165ProfsTer9) c.382-51778dup (n.382-51778dup) c.175dup (p.Leu59ProfsTer9) c.562dup (p.Leu188ProfsTer9) c.559dup (p.Leu187ProfsTer9) c.103dup (p.Leu35ProfsTer9) | |
10 | g.113089406del | CA471493205 | TCF7L2 | c.483+49280del (n.483+49280del) c.552+49280del (n.552+49280del) c.490del (p.Leu164SerfsTer29) c.400del (p.Leu134SerfsTer29) c.493del (p.Leu165SerfsTer29) c.382-51778del (n.382-51778del) c.175del (p.Leu59SerfsTer29) c.562del (p.Leu188SerfsTer29) c.559del (p.Leu187SerfsTer29) c.103del (p.Leu35SerfsTer29) | COSMIC |
10 | g.113089403C>A | CA378532588 | TCF7L2 | c.483+49277C>A (n.483+49277C>A) c.552+49277C>A (n.552+49277C>A) c.487C>A (p.Pro163Thr) c.397C>A (p.Pro133Thr) c.490C>A (p.Pro164Thr) c.382-51781C>A (n.382-51781C>A) c.172C>A (p.Pro58Thr) c.559C>A (p.Pro187Thr) c.556C>A (p.Pro186Thr) c.100C>A (p.Pro34Thr) | |
10 | g.113089403C>G | CA378532590 | TCF7L2 | c.483+49277C>G (n.483+49277C>G) c.552+49277C>G (n.552+49277C>G) c.487C>G (p.Pro163Ala) c.397C>G (p.Pro133Ala) c.490C>G (p.Pro164Ala) c.382-51781C>G (n.382-51781C>G) c.172C>G (p.Pro58Ala) c.559C>G (p.Pro187Ala) c.556C>G (p.Pro186Ala) c.100C>G (p.Pro34Ala) | |
10 | g.113089403C>T | CA378532589 | TCF7L2 | c.483+49277C>T (n.483+49277C>T) c.552+49277C>T (n.552+49277C>T) c.487C>T (p.Pro163Ser) c.397C>T (p.Pro133Ser) c.490C>T (p.Pro164Ser) c.382-51781C>T (n.382-51781C>T) c.172C>T (p.Pro58Ser) c.559C>T (p.Pro187Ser) c.556C>T (p.Pro186Ser) c.100C>T (p.Pro34Ser) | |
10 | g.113089404C>A | CA378532591 | TCF7L2 | c.483+49278C>A (n.483+49278C>A) c.552+49278C>A (n.552+49278C>A) c.488C>A (p.Pro163His) c.398C>A (p.Pro133His) c.491C>A (p.Pro164His) c.382-51780C>A (n.382-51780C>A) c.173C>A (p.Pro58His) c.560C>A (p.Pro187His) c.557C>A (p.Pro186His) c.101C>A (p.Pro34His) | |
10 | g.113089404C= | CA1937197422 | TCF7L2 | c.483+49278C= (n.483+49278C=) c.552+49278C= (n.552+49278C=) c.488C= (p.Pro163=) c.398C= (p.Pro133=) c.491C= (p.Pro164=) c.382-51780C= (n.382-51780C=) c.173C= (p.Pro58=) c.560C= (p.Pro187=) c.557C= (p.Pro186=) c.101C= (p.Pro34=) | |
10 | g.113089404C>G | CA5692886 | TCF7L2 | c.483+49278C>G (n.483+49278C>G) c.552+49278C>G (n.552+49278C>G) c.488C>G (p.Pro163Arg) c.398C>G (p.Pro133Arg) c.491C>G (p.Pro164Arg) c.382-51780C>G (n.382-51780C>G) c.173C>G (p.Pro58Arg) c.560C>G (p.Pro187Arg) c.557C>G (p.Pro186Arg) c.101C>G (p.Pro34Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089404C>T | CA378532592 | TCF7L2 | c.483+49278C>T (n.483+49278C>T) c.552+49278C>T (n.552+49278C>T) c.488C>T (p.Pro163Leu) c.398C>T (p.Pro133Leu) c.491C>T (p.Pro164Leu) c.382-51780C>T (n.382-51780C>T) c.173C>T (p.Pro58Leu) c.560C>T (p.Pro187Leu) c.557C>T (p.Pro186Leu) c.101C>T (p.Pro34Leu) | gnomAD v4 |
10 | g.113089405C>A | CA2574671138 | TCF7L2 | c.483+49279C>A (n.483+49279C>A) c.552+49279C>A (n.552+49279C>A) c.489C>A (p.Pro163=) c.399C>A (p.Pro133=) c.492C>A (p.Pro164=) c.382-51779C>A (n.382-51779C>A) c.174C>A (p.Pro58=) c.561C>A (p.Pro187=) c.558C>A (p.Pro186=) c.102C>A (p.Pro34=) | gnomAD v4 |
10 | g.113089405C= | CA1937197423 | TCF7L2 | c.483+49279C= (n.483+49279C=) c.552+49279C= (n.552+49279C=) c.489C= (p.Pro163=) c.399C= (p.Pro133=) c.492C= (p.Pro164=) c.382-51779C= (n.382-51779C=) c.174C= (p.Pro58=) c.561C= (p.Pro187=) c.558C= (p.Pro186=) c.102C= (p.Pro34=) | |
10 | g.113089405C>G | CA2610944496 | TCF7L2 | c.483+49279C>G (n.483+49279C>G) c.552+49279C>G (n.552+49279C>G) c.489C>G (p.Pro163=) c.399C>G (p.Pro133=) c.492C>G (p.Pro164=) c.382-51779C>G (n.382-51779C>G) c.174C>G (p.Pro58=) c.561C>G (p.Pro187=) c.558C>G (p.Pro186=) c.102C>G (p.Pro34=) | gnomAD v4 |
10 | g.113089405C>T | CA5692887 | TCF7L2 | c.483+49279C>T (n.483+49279C>T) c.552+49279C>T (n.552+49279C>T) c.489C>T (p.Pro163=) c.399C>T (p.Pro133=) c.492C>T (p.Pro164=) c.382-51779C>T (n.382-51779C>T) c.174C>T (p.Pro58=) c.561C>T (p.Pro187=) c.558C>T (p.Pro186=) c.102C>T (p.Pro34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089406C>A | CA378532593 | TCF7L2 | c.483+49280C>A (n.483+49280C>A) c.552+49280C>A (n.552+49280C>A) c.490C>A (p.Leu164Ile) c.400C>A (p.Leu134Ile) c.493C>A (p.Leu165Ile) c.382-51778C>A (n.382-51778C>A) c.175C>A (p.Leu59Ile) c.562C>A (p.Leu188Ile) c.559C>A (p.Leu187Ile) c.103C>A (p.Leu35Ile) | |
10 | g.113089406C= | CA1937197424 | TCF7L2 | c.483+49280C= (n.483+49280C=) c.552+49280C= (n.552+49280C=) c.490C= (p.Leu164=) c.400C= (p.Leu134=) c.493C= (p.Leu165=) c.382-51778C= (n.382-51778C=) c.175C= (p.Leu59=) c.562C= (p.Leu188=) c.559C= (p.Leu187=) c.103C= (p.Leu35=) | |
10 | g.113089406C>G | CA378532594 | TCF7L2 | c.483+49280C>G (n.483+49280C>G) c.552+49280C>G (n.552+49280C>G) c.490C>G (p.Leu164Val) c.400C>G (p.Leu134Val) c.493C>G (p.Leu165Val) c.382-51778C>G (n.382-51778C>G) c.175C>G (p.Leu59Val) c.562C>G (p.Leu188Val) c.559C>G (p.Leu187Val) c.103C>G (p.Leu35Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089406C>T | CA378532595 | TCF7L2 | c.483+49280C>T (n.483+49280C>T) c.552+49280C>T (n.552+49280C>T) c.490C>T (p.Leu164Phe) c.400C>T (p.Leu134Phe) c.493C>T (p.Leu165Phe) c.382-51778C>T (n.382-51778C>T) c.175C>T (p.Leu59Phe) c.562C>T (p.Leu188Phe) c.559C>T (p.Leu187Phe) c.103C>T (p.Leu35Phe) | dbSNP gnomAD v4 |
10 | g.113089407T>A | CA378532596 | TCF7L2 | c.483+49281T>A (n.483+49281T>A) c.552+49281T>A (n.552+49281T>A) c.491T>A (p.Leu164His) c.401T>A (p.Leu134His) c.494T>A (p.Leu165His) c.382-51777T>A (n.382-51777T>A) c.176T>A (p.Leu59His) c.563T>A (p.Leu188His) c.560T>A (p.Leu187His) c.104T>A (p.Leu35His) | |
10 | g.113089407T>C | CA378532597 | TCF7L2 | c.483+49281T>C (n.483+49281T>C) c.552+49281T>C (n.552+49281T>C) c.491T>C (p.Leu164Pro) c.401T>C (p.Leu134Pro) c.494T>C (p.Leu165Pro) c.382-51777T>C (n.382-51777T>C) c.176T>C (p.Leu59Pro) c.563T>C (p.Leu188Pro) c.560T>C (p.Leu187Pro) c.104T>C (p.Leu35Pro) | |
10 | g.113089407T>G | CA378532598 | TCF7L2 | c.483+49281T>G (n.483+49281T>G) c.552+49281T>G (n.552+49281T>G) c.491T>G (p.Leu164Arg) c.401T>G (p.Leu134Arg) c.494T>G (p.Leu165Arg) c.382-51777T>G (n.382-51777T>G) c.176T>G (p.Leu59Arg) c.563T>G (p.Leu188Arg) c.560T>G (p.Leu187Arg) c.104T>G (p.Leu35Arg) | |
10 | g.113089408C>A | CA2610944497 | TCF7L2 | c.483+49282C>A (n.483+49282C>A) c.552+49282C>A (n.552+49282C>A) c.492C>A (p.Leu164=) c.402C>A (p.Leu134=) c.495C>A (p.Leu165=) c.382-51776C>A (n.382-51776C>A) c.177C>A (p.Leu59=) c.564C>A (p.Leu188=) c.561C>A (p.Leu187=) c.105C>A (p.Leu35=) | gnomAD v4 |
10 | g.113089408C= | CA1937197425 | TCF7L2 | c.483+49282C= (n.483+49282C=) c.552+49282C= (n.552+49282C=) c.492C= (p.Leu164=) c.402C= (p.Leu134=) c.495C= (p.Leu165=) c.382-51776C= (n.382-51776C=) c.177C= (p.Leu59=) c.564C= (p.Leu188=) c.561C= (p.Leu187=) c.105C= (p.Leu35=) | |
10 | g.113089408C>T | CA596094317 | TCF7L2 | c.483+49282C>T (n.483+49282C>T) c.552+49282C>T (n.552+49282C>T) c.492C>T (p.Leu164=) c.402C>T (p.Leu134=) c.495C>T (p.Leu165=) c.382-51776C>T (n.382-51776C>T) c.177C>T (p.Leu59=) c.564C>T (p.Leu188=) c.561C>T (p.Leu187=) c.105C>T (p.Leu35=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089410dup | CA2843509117 | TCF7L2 | c.483+49284dup (n.483+49284dup) c.552+49284dup (n.552+49284dup) c.494dup (p.Cys166LeufsTer7) c.404dup (p.Cys136LeufsTer7) c.497dup (p.Cys167LeufsTer7) c.382-51774dup (n.382-51774dup) c.179dup (p.Cys61LeufsTer7) c.566dup (p.Cys190LeufsTer7) c.563dup (p.Cys189LeufsTer7) c.107dup (p.Cys37LeufsTer7) | |
10 | g.113089409C>A | CA378532599 | TCF7L2 | c.483+49283C>A (n.483+49283C>A) c.552+49283C>A (n.552+49283C>A) c.493C>A (p.Pro165Thr) c.403C>A (p.Pro135Thr) c.496C>A (p.Pro166Thr) c.382-51775C>A (n.382-51775C>A) c.178C>A (p.Pro60Thr) c.565C>A (p.Pro189Thr) c.562C>A (p.Pro188Thr) c.106C>A (p.Pro36Thr) | gnomAD v4 |
10 | g.113089409C>G | CA378532600 | TCF7L2 | c.483+49283C>G (n.483+49283C>G) c.552+49283C>G (n.552+49283C>G) c.493C>G (p.Pro165Ala) c.403C>G (p.Pro135Ala) c.496C>G (p.Pro166Ala) c.382-51775C>G (n.382-51775C>G) c.178C>G (p.Pro60Ala) c.565C>G (p.Pro189Ala) c.562C>G (p.Pro188Ala) c.106C>G (p.Pro36Ala) | |
10 | g.113089409C>T | CA378532601 | TCF7L2 | c.483+49283C>T (n.483+49283C>T) c.552+49283C>T (n.552+49283C>T) c.493C>T (p.Pro165Ser) c.403C>T (p.Pro135Ser) c.496C>T (p.Pro166Ser) c.382-51775C>T (n.382-51775C>T) c.178C>T (p.Pro60Ser) c.565C>T (p.Pro189Ser) c.562C>T (p.Pro188Ser) c.106C>T (p.Pro36Ser) | |
10 | g.113089410C>A | CA214116532 | TCF7L2 | c.483+49284C>A (n.483+49284C>A) c.552+49284C>A (n.552+49284C>A) c.494C>A (p.Pro165His) c.404C>A (p.Pro135His) c.497C>A (p.Pro166His) c.382-51774C>A (n.382-51774C>A) c.179C>A (p.Pro60His) c.566C>A (p.Pro189His) c.563C>A (p.Pro188His) c.107C>A (p.Pro36His) | dbSNP |
10 | g.113089410C= | CA1937197426 | TCF7L2 | c.483+49284C= (n.483+49284C=) c.552+49284C= (n.552+49284C=) c.494C= (p.Pro165=) c.404C= (p.Pro135=) c.497C= (p.Pro166=) c.382-51774C= (n.382-51774C=) c.179C= (p.Pro60=) c.566C= (p.Pro189=) c.563C= (p.Pro188=) c.107C= (p.Pro36=) | |
10 | g.113089410C>G | CA378532602 | TCF7L2 | c.483+49284C>G (n.483+49284C>G) c.552+49284C>G (n.552+49284C>G) c.494C>G (p.Pro165Arg) c.404C>G (p.Pro135Arg) c.497C>G (p.Pro166Arg) c.382-51774C>G (n.382-51774C>G) c.179C>G (p.Pro60Arg) c.566C>G (p.Pro189Arg) c.563C>G (p.Pro188Arg) c.107C>G (p.Pro36Arg) | |
10 | g.113089410C>T | CA5692888 | TCF7L2 | c.483+49284C>T (n.483+49284C>T) c.552+49284C>T (n.552+49284C>T) c.494C>T (p.Pro165Leu) c.404C>T (p.Pro135Leu) c.497C>T (p.Pro166Leu) c.382-51774C>T (n.382-51774C>T) c.179C>T (p.Pro60Leu) c.566C>T (p.Pro189Leu) c.563C>T (p.Pro188Leu) c.107C>T (p.Pro36Leu) | dbSNP ExAC gnomAD v4 |
10 | g.113089412T>A | CA378532603 | TCF7L2 | c.483+49286T>A (n.483+49286T>A) c.552+49286T>A (n.552+49286T>A) c.496T>A (p.Cys166Ser) c.406T>A (p.Cys136Ser) c.499T>A (p.Cys167Ser) c.382-51772T>A (n.382-51772T>A) c.181T>A (p.Cys61Ser) c.568T>A (p.Cys190Ser) c.565T>A (p.Cys189Ser) c.109T>A (p.Cys37Ser) | |
10 | g.113089412T>C | CA378532605 | TCF7L2 | c.483+49286T>C (n.483+49286T>C) c.552+49286T>C (n.552+49286T>C) c.496T>C (p.Cys166Arg) c.406T>C (p.Cys136Arg) c.499T>C (p.Cys167Arg) c.382-51772T>C (n.382-51772T>C) c.181T>C (p.Cys61Arg) c.568T>C (p.Cys190Arg) c.565T>C (p.Cys189Arg) c.109T>C (p.Cys37Arg) | |
10 | g.113089412T>G | CA378532604 | TCF7L2 | c.483+49286T>G (n.483+49286T>G) c.552+49286T>G (n.552+49286T>G) c.496T>G (p.Cys166Gly) c.406T>G (p.Cys136Gly) c.499T>G (p.Cys167Gly) c.382-51772T>G (n.382-51772T>G) c.181T>G (p.Cys61Gly) c.568T>G (p.Cys190Gly) c.565T>G (p.Cys189Gly) c.109T>G (p.Cys37Gly) | |
10 | g.113089413G>A | CA378532606 | TCF7L2 | c.483+49287G>A (n.483+49287G>A) c.552+49287G>A (n.552+49287G>A) c.497G>A (p.Cys166Tyr) c.407G>A (p.Cys136Tyr) c.500G>A (p.Cys167Tyr) c.382-51771G>A (n.382-51771G>A) c.182G>A (p.Cys61Tyr) c.569G>A (p.Cys190Tyr) c.566G>A (p.Cys189Tyr) c.110G>A (p.Cys37Tyr) | dbSNP gnomAD v4 |
10 | g.113089413G>C | CA378532607 | TCF7L2 | c.483+49287G>C (n.483+49287G>C) c.552+49287G>C (n.552+49287G>C) c.497G>C (p.Cys166Ser) c.407G>C (p.Cys136Ser) c.500G>C (p.Cys167Ser) c.382-51771G>C (n.382-51771G>C) c.182G>C (p.Cys61Ser) c.569G>C (p.Cys190Ser) c.566G>C (p.Cys189Ser) c.110G>C (p.Cys37Ser) | |
10 | g.113089413G= | CA1937197427 | TCF7L2 | c.483+49287G= (n.483+49287G=) c.552+49287G= (n.552+49287G=) c.497G= (p.Cys166=) c.407G= (p.Cys136=) c.500G= (p.Cys167=) c.382-51771G= (n.382-51771G=) c.182G= (p.Cys61=) c.569G= (p.Cys190=) c.566G= (p.Cys189=) c.110G= (p.Cys37=) | |
10 | g.113089413G>T | CA378532608 | TCF7L2 | c.483+49287G>T (n.483+49287G>T) c.552+49287G>T (n.552+49287G>T) c.497G>T (p.Cys166Phe) c.407G>T (p.Cys136Phe) c.500G>T (p.Cys167Phe) c.382-51771G>T (n.382-51771G>T) c.182G>T (p.Cys61Phe) c.569G>T (p.Cys190Phe) c.566G>T (p.Cys189Phe) c.110G>T (p.Cys37Phe) | |
10 | g.113089414C>A | CA378532609 | TCF7L2 | c.483+49288C>A (n.483+49288C>A) c.552+49288C>A (n.552+49288C>A) c.498C>A (p.Cys166Ter) c.408C>A (p.Cys136Ter) c.501C>A (p.Cys167Ter) c.382-51770C>A (n.382-51770C>A) c.183C>A (p.Cys61Ter) c.570C>A (p.Cys190Ter) c.567C>A (p.Cys189Ter) c.111C>A (p.Cys37Ter) | |
10 | g.113089414C>G | CA378532610 | TCF7L2 | c.483+49288C>G (n.483+49288C>G) c.552+49288C>G (n.552+49288C>G) c.498C>G (p.Cys166Trp) c.408C>G (p.Cys136Trp) c.501C>G (p.Cys167Trp) c.382-51770C>G (n.382-51770C>G) c.183C>G (p.Cys61Trp) c.570C>G (p.Cys190Trp) c.567C>G (p.Cys189Trp) c.111C>G (p.Cys37Trp) | |
10 | g.113089415T>A | CA378532611 | TCF7L2 | c.483+49289T>A (n.483+49289T>A) c.552+49289T>A (n.552+49289T>A) c.499T>A (p.Cys167Ser) c.409T>A (p.Cys137Ser) c.502T>A (p.Cys168Ser) c.382-51769T>A (n.382-51769T>A) c.184T>A (p.Cys62Ser) c.571T>A (p.Cys191Ser) c.568T>A (p.Cys190Ser) c.112T>A (p.Cys38Ser) | |
10 | g.113089415T>C | CA378532612 | TCF7L2 | c.483+49289T>C (n.483+49289T>C) c.552+49289T>C (n.552+49289T>C) c.499T>C (p.Cys167Arg) c.409T>C (p.Cys137Arg) c.502T>C (p.Cys168Arg) c.382-51769T>C (n.382-51769T>C) c.184T>C (p.Cys62Arg) c.571T>C (p.Cys191Arg) c.568T>C (p.Cys190Arg) c.112T>C (p.Cys38Arg) | |
10 | g.113089415T>G | CA378532613 | TCF7L2 | c.483+49289T>G (n.483+49289T>G) c.552+49289T>G (n.552+49289T>G) c.499T>G (p.Cys167Gly) c.409T>G (p.Cys137Gly) c.502T>G (p.Cys168Gly) c.382-51769T>G (n.382-51769T>G) c.184T>G (p.Cys62Gly) c.571T>G (p.Cys191Gly) c.568T>G (p.Cys190Gly) c.112T>G (p.Cys38Gly) | |
10 | g.113089416G>A | CA378532614 | TCF7L2 | c.483+49290G>A (n.483+49290G>A) c.552+49290G>A (n.552+49290G>A) c.500G>A (p.Cys167Tyr) c.410G>A (p.Cys137Tyr) c.503G>A (p.Cys168Tyr) c.382-51768G>A (n.382-51768G>A) c.185G>A (p.Cys62Tyr) c.572G>A (p.Cys191Tyr) c.569G>A (p.Cys190Tyr) c.113G>A (p.Cys38Tyr) | |
10 | g.113089416G>C | CA378532615 | TCF7L2 | c.483+49290G>C (n.483+49290G>C) c.552+49290G>C (n.552+49290G>C) c.500G>C (p.Cys167Ser) c.410G>C (p.Cys137Ser) c.503G>C (p.Cys168Ser) c.382-51768G>C (n.382-51768G>C) c.185G>C (p.Cys62Ser) c.572G>C (p.Cys191Ser) c.569G>C (p.Cys190Ser) c.113G>C (p.Cys38Ser) | |
10 | g.113089416G>T | CA378532616 | TCF7L2 | c.483+49290G>T (n.483+49290G>T) c.552+49290G>T (n.552+49290G>T) c.500G>T (p.Cys167Phe) c.410G>T (p.Cys137Phe) c.503G>T (p.Cys168Phe) c.382-51768G>T (n.382-51768G>T) c.185G>T (p.Cys62Phe) c.572G>T (p.Cys191Phe) c.569G>T (p.Cys190Phe) c.113G>T (p.Cys38Phe) | |
10 | g.113089416_113089417del | CA912966507 | TCF7L2 | c.483+49290_483+49291del (n.483+49290_483+49291del) c.552+49290_552+49291del (n.552+49290_552+49291del) c.500_501del (p.Cys167TyrfsTer5) c.410_411del (p.Cys137TyrfsTer5) c.503_504del (p.Cys168TyrfsTer5) c.382-51768_382-51767del (n.382-51768_382-51767del) c.185_186del (p.Cys62TyrfsTer5) c.572_573del (p.Cys191TyrfsTer5) c.569_570del (p.Cys190TyrfsTer5) c.113_114del (p.Cys38TyrfsTer5) | |
10 | g.113089417C>A | CA378532617 | TCF7L2 | c.483+49291C>A (n.483+49291C>A) c.552+49291C>A (n.552+49291C>A) c.501C>A (p.Cys167Ter) c.411C>A (p.Cys137Ter) c.504C>A (p.Cys168Ter) c.382-51767C>A (n.382-51767C>A) c.186C>A (p.Cys62Ter) c.573C>A (p.Cys191Ter) c.570C>A (p.Cys190Ter) c.114C>A (p.Cys38Ter) | |
10 | g.113089417C>G | CA378532618 | TCF7L2 | c.483+49291C>G (n.483+49291C>G) c.552+49291C>G (n.552+49291C>G) c.501C>G (p.Cys167Trp) c.411C>G (p.Cys137Trp) c.504C>G (p.Cys168Trp) c.382-51767C>G (n.382-51767C>G) c.186C>G (p.Cys62Trp) c.573C>G (p.Cys191Trp) c.570C>G (p.Cys190Trp) c.114C>G (p.Cys38Trp) | |
10 | g.113089417C>T | CA2610944498 | TCF7L2 | c.483+49291C>T (n.483+49291C>T) c.552+49291C>T (n.552+49291C>T) c.501C>T (p.Cys167=) c.411C>T (p.Cys137=) c.504C>T (p.Cys168=) c.382-51767C>T (n.382-51767C>T) c.186C>T (p.Cys62=) c.573C>T (p.Cys191=) c.570C>T (p.Cys190=) c.114C>T (p.Cys38=) | gnomAD v4 |
10 | g.113089418A= | CA1937197428 | TCF7L2 | c.483+49292A= (n.483+49292A=) c.552+49292A= (n.552+49292A=) c.502A= (p.Thr168=) c.412A= (p.Thr138=) c.505A= (p.Thr169=) c.382-51766A= (n.382-51766A=) c.187A= (p.Thr63=) c.574A= (p.Thr192=) c.571A= (p.Thr191=) c.115A= (p.Thr39=) | |
10 | g.113089418A>C | CA378532619 | TCF7L2 | c.483+49292A>C (n.483+49292A>C) c.552+49292A>C (n.552+49292A>C) c.502A>C (p.Thr168Pro) c.412A>C (p.Thr138Pro) c.505A>C (p.Thr169Pro) c.382-51766A>C (n.382-51766A>C) c.187A>C (p.Thr63Pro) c.574A>C (p.Thr192Pro) c.571A>C (p.Thr191Pro) c.115A>C (p.Thr39Pro) | |
10 | g.113089418A>G | CA378532620 | TCF7L2 | c.483+49292A>G (n.483+49292A>G) c.552+49292A>G (n.552+49292A>G) c.502A>G (p.Thr168Ala) c.412A>G (p.Thr138Ala) c.505A>G (p.Thr169Ala) c.382-51766A>G (n.382-51766A>G) c.187A>G (p.Thr63Ala) c.574A>G (p.Thr192Ala) c.571A>G (p.Thr191Ala) c.115A>G (p.Thr39Ala) | dbSNP |
10 | g.113089418A>T | CA378532621 | TCF7L2 | c.483+49292A>T (n.483+49292A>T) c.552+49292A>T (n.552+49292A>T) c.502A>T (p.Thr168Ser) c.412A>T (p.Thr138Ser) c.505A>T (p.Thr169Ser) c.382-51766A>T (n.382-51766A>T) c.187A>T (p.Thr63Ser) c.574A>T (p.Thr192Ser) c.571A>T (p.Thr191Ser) c.115A>T (p.Thr39Ser) | |
10 | g.113089419C>A | CA378532622 | TCF7L2 | c.483+49293C>A (n.483+49293C>A) c.552+49293C>A (n.552+49293C>A) c.503C>A (p.Thr168Asn) c.413C>A (p.Thr138Asn) c.506C>A (p.Thr169Asn) c.382-51765C>A (n.382-51765C>A) c.188C>A (p.Thr63Asn) c.575C>A (p.Thr192Asn) c.572C>A (p.Thr191Asn) c.116C>A (p.Thr39Asn) | gnomAD v4 |
10 | g.113089419C>G | CA378532623 | TCF7L2 | c.483+49293C>G (n.483+49293C>G) c.552+49293C>G (n.552+49293C>G) c.503C>G (p.Thr168Ser) c.413C>G (p.Thr138Ser) c.506C>G (p.Thr169Ser) c.382-51765C>G (n.382-51765C>G) c.188C>G (p.Thr63Ser) c.575C>G (p.Thr192Ser) c.572C>G (p.Thr191Ser) c.116C>G (p.Thr39Ser) | |
10 | g.113089419C>T | CA378532624 | TCF7L2 | c.483+49293C>T (n.483+49293C>T) c.552+49293C>T (n.552+49293C>T) c.503C>T (p.Thr168Ile) c.413C>T (p.Thr138Ile) c.506C>T (p.Thr169Ile) c.382-51765C>T (n.382-51765C>T) c.188C>T (p.Thr63Ile) c.575C>T (p.Thr192Ile) c.572C>T (p.Thr191Ile) c.116C>T (p.Thr39Ile) | |
10 | g.113089421C>A | CA378532626 | TCF7L2 | c.483+49295C>A (n.483+49295C>A) c.552+49295C>A (n.552+49295C>A) c.505C>A (p.Gln169Lys) c.415C>A (p.Gln139Lys) c.508C>A (p.Gln170Lys) c.382-51763C>A (n.382-51763C>A) c.190C>A (p.Gln64Lys) c.577C>A (p.Gln193Lys) c.574C>A (p.Gln192Lys) c.118C>A (p.Gln40Lys) | |
10 | g.113089421C= | CA1937197429 | TCF7L2 | c.483+49295C= (n.483+49295C=) c.552+49295C= (n.552+49295C=) c.505C= (p.Gln169=) c.415C= (p.Gln139=) c.508C= (p.Gln170=) c.382-51763C= (n.382-51763C=) c.190C= (p.Gln64=) c.577C= (p.Gln193=) c.574C= (p.Gln192=) c.118C= (p.Gln40=) | |
10 | g.113089421C>G | CA5692889 | TCF7L2 | c.483+49295C>G (n.483+49295C>G) c.552+49295C>G (n.552+49295C>G) c.505C>G (p.Gln169Glu) c.415C>G (p.Gln139Glu) c.508C>G (p.Gln170Glu) c.382-51763C>G (n.382-51763C>G) c.190C>G (p.Gln64Glu) c.577C>G (p.Gln193Glu) c.574C>G (p.Gln192Glu) c.118C>G (p.Gln40Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089421C>T | CA378532625 | TCF7L2 | c.483+49295C>T (n.483+49295C>T) c.552+49295C>T (n.552+49295C>T) c.505C>T (p.Gln169Ter) c.415C>T (p.Gln139Ter) c.508C>T (p.Gln170Ter) c.382-51763C>T (n.382-51763C>T) c.190C>T (p.Gln64Ter) c.577C>T (p.Gln193Ter) c.574C>T (p.Gln192Ter) c.118C>T (p.Gln40Ter) | gnomAD v4 |
10 | g.113089422A>C | CA378532627 | TCF7L2 | c.483+49296A>C (n.483+49296A>C) c.552+49296A>C (n.552+49296A>C) c.506A>C (p.Gln169Pro) c.416A>C (p.Gln139Pro) c.509A>C (p.Gln170Pro) c.382-51762A>C (n.382-51762A>C) c.191A>C (p.Gln64Pro) c.578A>C (p.Gln193Pro) c.575A>C (p.Gln192Pro) c.119A>C (p.Gln40Pro) | |
10 | g.113089422A>G | CA378532628 | TCF7L2 | c.483+49296A>G (n.483+49296A>G) c.552+49296A>G (n.552+49296A>G) c.506A>G (p.Gln169Arg) c.416A>G (p.Gln139Arg) c.509A>G (p.Gln170Arg) c.382-51762A>G (n.382-51762A>G) c.191A>G (p.Gln64Arg) c.578A>G (p.Gln193Arg) c.575A>G (p.Gln192Arg) c.119A>G (p.Gln40Arg) | |
10 | g.113089422A>T | CA378532629 | TCF7L2 | c.483+49296A>T (n.483+49296A>T) c.552+49296A>T (n.552+49296A>T) c.506A>T (p.Gln169Leu) c.416A>T (p.Gln139Leu) c.509A>T (p.Gln170Leu) c.382-51762A>T (n.382-51762A>T) c.191A>T (p.Gln64Leu) c.578A>T (p.Gln193Leu) c.575A>T (p.Gln192Leu) c.119A>T (p.Gln40Leu) | |
10 | g.113089423G>A | CA2610944499 | TCF7L2 | c.483+49297G>A (n.483+49297G>A) c.552+49297G>A (n.552+49297G>A) c.507G>A (p.Gln169=) c.417G>A (p.Gln139=) c.510G>A (p.Gln170=) c.382-51761G>A (n.382-51761G>A) c.192G>A (p.Gln64=) c.579G>A (p.Gln193=) c.576G>A (p.Gln192=) c.120G>A (p.Gln40=) | gnomAD v4 |
10 | g.113089423G>C | CA378532630 | TCF7L2 | c.483+49297G>C (n.483+49297G>C) c.552+49297G>C (n.552+49297G>C) c.507G>C (p.Gln169His) c.417G>C (p.Gln139His) c.510G>C (p.Gln170His) c.382-51761G>C (n.382-51761G>C) c.192G>C (p.Gln64His) c.579G>C (p.Gln193His) c.576G>C (p.Gln192His) c.120G>C (p.Gln40His) | |
10 | g.113089423G= | CA1937197430 | TCF7L2 | c.483+49297G= (n.483+49297G=) c.552+49297G= (n.552+49297G=) c.507G= (p.Gln169=) c.417G= (p.Gln139=) c.510G= (p.Gln170=) c.382-51761G= (n.382-51761G=) c.192G= (p.Gln64=) c.579G= (p.Gln193=) c.576G= (p.Gln192=) c.120G= (p.Gln40=) | |
10 | g.113089423G>T | CA5692890 | TCF7L2 | c.483+49297G>T (n.483+49297G>T) c.552+49297G>T (n.552+49297G>T) c.507G>T (p.Gln169His) c.417G>T (p.Gln139His) c.510G>T (p.Gln170His) c.382-51761G>T (n.382-51761G>T) c.192G>T (p.Gln64His) c.579G>T (p.Gln193His) c.576G>T (p.Gln192His) c.120G>T (p.Gln40His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089424G>A | CA378532631 | TCF7L2 | c.483+49298G>A (n.483+49298G>A) c.552+49298G>A (n.552+49298G>A) c.508G>A (p.Gly170Arg) c.418G>A (p.Gly140Arg) c.511G>A (p.Gly171Arg) c.382-51760G>A (n.382-51760G>A) c.193G>A (p.Gly65Arg) c.580G>A (p.Gly194Arg) c.577G>A (p.Gly193Arg) c.121G>A (p.Gly41Arg) | |
10 | g.113089424G>C | CA378532633 | TCF7L2 | c.483+49298G>C (n.483+49298G>C) c.552+49298G>C (n.552+49298G>C) c.508G>C (p.Gly170Arg) c.418G>C (p.Gly140Arg) c.511G>C (p.Gly171Arg) c.382-51760G>C (n.382-51760G>C) c.193G>C (p.Gly65Arg) c.580G>C (p.Gly194Arg) c.577G>C (p.Gly193Arg) c.121G>C (p.Gly41Arg) | |
10 | g.113089424G>T | CA378532632 | TCF7L2 | c.483+49298G>T (n.483+49298G>T) c.552+49298G>T (n.552+49298G>T) c.508G>T (p.Gly170Ter) c.418G>T (p.Gly140Ter) c.511G>T (p.Gly171Ter) c.382-51760G>T (n.382-51760G>T) c.193G>T (p.Gly65Ter) c.580G>T (p.Gly194Ter) c.577G>T (p.Gly193Ter) c.121G>T (p.Gly41Ter) | |
10 | g.113089425G>A | CA378532634 | TCF7L2 | c.483+49299G>A (n.483+49299G>A) c.552+49299G>A (n.552+49299G>A) c.509G>A (p.Gly170Glu) c.419G>A (p.Gly140Glu) c.512G>A (p.Gly171Glu) c.382-51759G>A (n.382-51759G>A) c.194G>A (p.Gly65Glu) c.581G>A (p.Gly194Glu) c.578G>A (p.Gly193Glu) c.122G>A (p.Gly41Glu) | |
10 | g.113089425G>C | CA378532635 | TCF7L2 | c.483+49299G>C (n.483+49299G>C) c.552+49299G>C (n.552+49299G>C) c.509G>C (p.Gly170Ala) c.419G>C (p.Gly140Ala) c.512G>C (p.Gly171Ala) c.382-51759G>C (n.382-51759G>C) c.194G>C (p.Gly65Ala) c.581G>C (p.Gly194Ala) c.578G>C (p.Gly193Ala) c.122G>C (p.Gly41Ala) | |
10 | g.113089425G>T | CA378532636 | TCF7L2 | c.483+49299G>T (n.483+49299G>T) c.552+49299G>T (n.552+49299G>T) c.509G>T (p.Gly170Val) c.419G>T (p.Gly140Val) c.512G>T (p.Gly171Val) c.382-51759G>T (n.382-51759G>T) c.194G>T (p.Gly65Val) c.581G>T (p.Gly194Val) c.578G>T (p.Gly193Val) c.122G>T (p.Gly41Val) | dbSNP |
10 | g.113089427C>A | CA378532637 | TCF7L2 | c.483+49301C>A (n.483+49301C>A) c.552+49301C>A (n.552+49301C>A) c.511C>A (p.His171Asn) c.421C>A (p.His141Asn) c.514C>A (p.His172Asn) c.382-51757C>A (n.382-51757C>A) c.196C>A (p.His66Asn) c.583C>A (p.His195Asn) c.580C>A (p.His194Asn) c.124C>A (p.His42Asn) | |
10 | g.113089427C>G | CA378532638 | TCF7L2 | c.483+49301C>G (n.483+49301C>G) c.552+49301C>G (n.552+49301C>G) c.511C>G (p.His171Asp) c.421C>G (p.His141Asp) c.514C>G (p.His172Asp) c.382-51757C>G (n.382-51757C>G) c.196C>G (p.His66Asp) c.583C>G (p.His195Asp) c.580C>G (p.His194Asp) c.124C>G (p.His42Asp) | |
10 | g.113089427C>T | CA378532639 | TCF7L2 | c.483+49301C>T (n.483+49301C>T) c.552+49301C>T (n.552+49301C>T) c.511C>T (p.His171Tyr) c.421C>T (p.His141Tyr) c.514C>T (p.His172Tyr) c.382-51757C>T (n.382-51757C>T) c.196C>T (p.His66Tyr) c.583C>T (p.His195Tyr) c.580C>T (p.His194Tyr) c.124C>T (p.His42Tyr) | gnomAD v4 |
10 | g.113089428A= | CA1937197431 | TCF7L2 | c.483+49302A= (n.483+49302A=) c.552+49302A= (n.552+49302A=) c.512A= (p.His171=) c.422A= (p.His141=) c.515A= (p.His172=) c.382-51756A= (n.382-51756A=) c.197A= (p.His66=) c.584A= (p.His195=) c.581A= (p.His194=) c.125A= (p.His42=) | |
10 | g.113089428A>C | CA378532640 | TCF7L2 | c.483+49302A>C (n.483+49302A>C) c.552+49302A>C (n.552+49302A>C) c.512A>C (p.His171Pro) c.422A>C (p.His141Pro) c.515A>C (p.His172Pro) c.382-51756A>C (n.382-51756A>C) c.197A>C (p.His66Pro) c.584A>C (p.His195Pro) c.581A>C (p.His194Pro) c.125A>C (p.His42Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089428A>G | CA378532641 | TCF7L2 | c.483+49302A>G (n.483+49302A>G) c.552+49302A>G (n.552+49302A>G) c.512A>G (p.His171Arg) c.422A>G (p.His141Arg) c.515A>G (p.His172Arg) c.382-51756A>G (n.382-51756A>G) c.197A>G (p.His66Arg) c.584A>G (p.His195Arg) c.581A>G (p.His194Arg) c.125A>G (p.His42Arg) | dbSNP gnomAD v4 |
10 | g.113089428A>T | CA378532642 | TCF7L2 | c.483+49302A>T (n.483+49302A>T) c.552+49302A>T (n.552+49302A>T) c.512A>T (p.His171Leu) c.422A>T (p.His141Leu) c.515A>T (p.His172Leu) c.382-51756A>T (n.382-51756A>T) c.197A>T (p.His66Leu) c.584A>T (p.His195Leu) c.581A>T (p.His194Leu) c.125A>T (p.His42Leu) | |
10 | g.113089429T>A | CA378532643 | TCF7L2 | c.483+49303T>A (n.483+49303T>A) c.552+49303T>A (n.552+49303T>A) c.513T>A (p.His171Gln) c.423T>A (p.His141Gln) c.516T>A (p.His172Gln) c.382-51755T>A (n.382-51755T>A) c.198T>A (p.His66Gln) c.585T>A (p.His195Gln) c.582T>A (p.His194Gln) c.126T>A (p.His42Gln) | |
10 | g.113089429T>G | CA378532644 | TCF7L2 | c.483+49303T>G (n.483+49303T>G) c.552+49303T>G (n.552+49303T>G) c.513T>G (p.His171Gln) c.423T>G (p.His141Gln) c.516T>G (p.His172Gln) c.382-51755T>G (n.382-51755T>G) c.198T>G (p.His66Gln) c.585T>G (p.His195Gln) c.582T>G (p.His194Gln) c.126T>G (p.His42Gln) | gnomAD v4 |
10 | g.113089430G>A | CA378532645 | TCF7L2 | c.483+49304G>A (n.483+49304G>A) c.552+49304G>A (n.552+49304G>A) c.514G>A (p.Asp172Asn) c.424G>A (p.Asp142Asn) c.517G>A (p.Asp173Asn) c.382-51754G>A (n.382-51754G>A) c.199G>A (p.Asp67Asn) c.586G>A (p.Asp196Asn) c.583G>A (p.Asp195Asn) c.127G>A (p.Asp43Asn) | gnomAD v4 |
10 | g.113089430G>C | CA378532647 | TCF7L2 | c.483+49304G>C (n.483+49304G>C) c.552+49304G>C (n.552+49304G>C) c.514G>C (p.Asp172His) c.424G>C (p.Asp142His) c.517G>C (p.Asp173His) c.382-51754G>C (n.382-51754G>C) c.199G>C (p.Asp67His) c.586G>C (p.Asp196His) c.583G>C (p.Asp195His) c.127G>C (p.Asp43His) | |
10 | g.113089430G>T | CA378532646 | TCF7L2 | c.483+49304G>T (n.483+49304G>T) c.552+49304G>T (n.552+49304G>T) c.514G>T (p.Asp172Tyr) c.424G>T (p.Asp142Tyr) c.517G>T (p.Asp173Tyr) c.382-51754G>T (n.382-51754G>T) c.199G>T (p.Asp67Tyr) c.586G>T (p.Asp196Tyr) c.583G>T (p.Asp195Tyr) c.127G>T (p.Asp43Tyr) | |
10 | g.113089431A>C | CA378532648 | TCF7L2 | c.483+49305A>C (n.483+49305A>C) c.552+49305A>C (n.552+49305A>C) c.515A>C (p.Asp172Ala) c.425A>C (p.Asp142Ala) c.518A>C (p.Asp173Ala) c.382-51753A>C (n.382-51753A>C) c.200A>C (p.Asp67Ala) c.587A>C (p.Asp196Ala) c.584A>C (p.Asp195Ala) c.128A>C (p.Asp43Ala) | |
10 | g.113089431A>G | CA378532650 | TCF7L2 | c.483+49305A>G (n.483+49305A>G) c.552+49305A>G (n.552+49305A>G) c.515A>G (p.Asp172Gly) c.425A>G (p.Asp142Gly) c.518A>G (p.Asp173Gly) c.382-51753A>G (n.382-51753A>G) c.200A>G (p.Asp67Gly) c.587A>G (p.Asp196Gly) c.584A>G (p.Asp195Gly) c.128A>G (p.Asp43Gly) | COSMIC |
10 | g.113089431A>T | CA378532649 | TCF7L2 | c.483+49305A>T (n.483+49305A>T) c.552+49305A>T (n.552+49305A>T) c.515A>T (p.Asp172Val) c.425A>T (p.Asp142Val) c.518A>T (p.Asp173Val) c.382-51753A>T (n.382-51753A>T) c.200A>T (p.Asp67Val) c.587A>T (p.Asp196Val) c.584A>T (p.Asp195Val) c.128A>T (p.Asp43Val) | |
10 | g.113089432C>A | CA378532651 | TCF7L2 | c.483+49306C>A (n.483+49306C>A) c.552+49306C>A (n.552+49306C>A) c.516C>A (p.Asp172Glu) c.426C>A (p.Asp142Glu) c.519C>A (p.Asp173Glu) c.382-51752C>A (n.382-51752C>A) c.201C>A (p.Asp67Glu) c.588C>A (p.Asp196Glu) c.585C>A (p.Asp195Glu) c.129C>A (p.Asp43Glu) | |
10 | g.113089432C>G | CA378532652 | TCF7L2 | c.483+49306C>G (n.483+49306C>G) c.552+49306C>G (n.552+49306C>G) c.516C>G (p.Asp172Glu) c.426C>G (p.Asp142Glu) c.519C>G (p.Asp173Glu) c.382-51752C>G (n.382-51752C>G) c.201C>G (p.Asp67Glu) c.588C>G (p.Asp196Glu) c.585C>G (p.Asp195Glu) c.129C>G (p.Asp43Glu) | |
10 | g.113089433T>A | CA378532653 | TCF7L2 | c.483+49307T>A (n.483+49307T>A) c.552+49307T>A (n.552+49307T>A) c.517T>A (p.Cys173Ser) c.427T>A (p.Cys143Ser) c.520T>A (p.Cys174Ser) c.382-51751T>A (n.382-51751T>A) c.202T>A (p.Cys68Ser) c.589T>A (p.Cys197Ser) c.586T>A (p.Cys196Ser) c.130T>A (p.Cys44Ser) | |
10 | g.113089433T>C | CA378532654 | TCF7L2 | c.483+49307T>C (n.483+49307T>C) c.552+49307T>C (n.552+49307T>C) c.517T>C (p.Cys173Arg) c.427T>C (p.Cys143Arg) c.520T>C (p.Cys174Arg) c.382-51751T>C (n.382-51751T>C) c.202T>C (p.Cys68Arg) c.589T>C (p.Cys197Arg) c.586T>C (p.Cys196Arg) c.130T>C (p.Cys44Arg) | |
10 | g.113089433T>G | CA378532655 | TCF7L2 | c.483+49307T>G (n.483+49307T>G) c.552+49307T>G (n.552+49307T>G) c.517T>G (p.Cys173Gly) c.427T>G (p.Cys143Gly) c.520T>G (p.Cys174Gly) c.382-51751T>G (n.382-51751T>G) c.202T>G (p.Cys68Gly) c.589T>G (p.Cys197Gly) c.586T>G (p.Cys196Gly) c.130T>G (p.Cys44Gly) | |
10 | g.113089434G>A | CA378532656 | TCF7L2 | c.483+49308G>A (n.483+49308G>A) c.552+49308G>A (n.552+49308G>A) c.518G>A (p.Cys173Tyr) c.428G>A (p.Cys143Tyr) c.521G>A (p.Cys174Tyr) c.382-51750G>A (n.382-51750G>A) c.203G>A (p.Cys68Tyr) c.590G>A (p.Cys197Tyr) c.587G>A (p.Cys196Tyr) c.131G>A (p.Cys44Tyr) | |
10 | g.113089434G>C | CA378532657 | TCF7L2 | c.483+49308G>C (n.483+49308G>C) c.552+49308G>C (n.552+49308G>C) c.518G>C (p.Cys173Ser) c.428G>C (p.Cys143Ser) c.521G>C (p.Cys174Ser) c.382-51750G>C (n.382-51750G>C) c.203G>C (p.Cys68Ser) c.590G>C (p.Cys197Ser) c.587G>C (p.Cys196Ser) c.131G>C (p.Cys44Ser) | |
10 | g.113089434G>T | CA378532658 | TCF7L2 | c.483+49308G>T (n.483+49308G>T) c.552+49308G>T (n.552+49308G>T) c.518G>T (p.Cys173Phe) c.428G>T (p.Cys143Phe) c.521G>T (p.Cys174Phe) c.382-51750G>T (n.382-51750G>T) c.203G>T (p.Cys68Phe) c.590G>T (p.Cys197Phe) c.587G>T (p.Cys196Phe) c.131G>T (p.Cys44Phe) | |
10 | g.113089435T>A | CA378532659 | TCF7L2 | c.483+49309T>A (n.483+49309T>A) c.552+49309T>A (n.552+49309T>A) c.519T>A (p.Cys173Ter) c.429T>A (p.Cys143Ter) c.522T>A (p.Cys174Ter) c.382-51749T>A (n.382-51749T>A) c.204T>A (p.Cys68Ter) c.591T>A (p.Cys197Ter) c.588T>A (p.Cys196Ter) c.132T>A (p.Cys44Ter) | |
10 | g.113089435T>C | CA2610944500 | TCF7L2 | c.483+49309T>C (n.483+49309T>C) c.552+49309T>C (n.552+49309T>C) c.519T>C (p.Cys173=) c.429T>C (p.Cys143=) c.522T>C (p.Cys174=) c.382-51749T>C (n.382-51749T>C) c.204T>C (p.Cys68=) c.591T>C (p.Cys197=) c.588T>C (p.Cys196=) c.132T>C (p.Cys44=) | gnomAD v4 |
10 | g.113089435T>G | CA378532660 | TCF7L2 | c.483+49309T>G (n.483+49309T>G) c.552+49309T>G (n.552+49309T>G) c.519T>G (p.Cys173Trp) c.429T>G (p.Cys143Trp) c.522T>G (p.Cys174Trp) c.382-51749T>G (n.382-51749T>G) c.204T>G (p.Cys68Trp) c.591T>G (p.Cys197Trp) c.588T>G (p.Cys196Trp) c.132T>G (p.Cys44Trp) | |
10 | g.113089436C>A | CA378532662 | TCF7L2 | c.483+49310C>A (n.483+49310C>A) c.552+49310C>A (n.552+49310C>A) c.520C>A (p.Gln174Lys) c.430C>A (p.Gln144Lys) c.523C>A (p.Gln175Lys) c.382-51748C>A (n.382-51748C>A) c.205C>A (p.Gln69Lys) c.592C>A (p.Gln198Lys) c.589C>A (p.Gln197Lys) c.133C>A (p.Gln45Lys) | |
10 | g.113089436C= | CA1937197432 | TCF7L2 | c.483+49310C= (n.483+49310C=) c.552+49310C= (n.552+49310C=) c.520C= (p.Gln174=) c.430C= (p.Gln144=) c.523C= (p.Gln175=) c.382-51748C= (n.382-51748C=) c.205C= (p.Gln69=) c.592C= (p.Gln198=) c.589C= (p.Gln197=) c.133C= (p.Gln45=) | |
10 | g.113089436C>G | CA378532661 | TCF7L2 | c.483+49310C>G (n.483+49310C>G) c.552+49310C>G (n.552+49310C>G) c.520C>G (p.Gln174Glu) c.430C>G (p.Gln144Glu) c.523C>G (p.Gln175Glu) c.382-51748C>G (n.382-51748C>G) c.205C>G (p.Gln69Glu) c.592C>G (p.Gln198Glu) c.589C>G (p.Gln197Glu) c.133C>G (p.Gln45Glu) | |
10 | g.113089436C>T | CA5692891 | TCF7L2 | c.483+49310C>T (n.483+49310C>T) c.552+49310C>T (n.552+49310C>T) c.520C>T (p.Gln174Ter) c.430C>T (p.Gln144Ter) c.523C>T (p.Gln175Ter) c.382-51748C>T (n.382-51748C>T) c.205C>T (p.Gln69Ter) c.592C>T (p.Gln198Ter) c.589C>T (p.Gln197Ter) c.133C>T (p.Gln45Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089437A>C | CA378532663 | TCF7L2 | c.483+49311A>C (n.483+49311A>C) c.552+49311A>C (n.552+49311A>C) c.521A>C (p.Gln174Pro) c.431A>C (p.Gln144Pro) c.524A>C (p.Gln175Pro) c.382-51747A>C (n.382-51747A>C) c.206A>C (p.Gln69Pro) c.593A>C (p.Gln198Pro) c.590A>C (p.Gln197Pro) c.134A>C (p.Gln45Pro) | |
10 | g.113089437A>G | CA378532664 | TCF7L2 | c.483+49311A>G (n.483+49311A>G) c.552+49311A>G (n.552+49311A>G) c.521A>G (p.Gln174Arg) c.431A>G (p.Gln144Arg) c.524A>G (p.Gln175Arg) c.382-51747A>G (n.382-51747A>G) c.206A>G (p.Gln69Arg) c.593A>G (p.Gln198Arg) c.590A>G (p.Gln197Arg) c.134A>G (p.Gln45Arg) | gnomAD v4 |
10 | g.113089437A>T | CA378532665 | TCF7L2 | c.483+49311A>T (n.483+49311A>T) c.552+49311A>T (n.552+49311A>T) c.521A>T (p.Gln174Leu) c.431A>T (p.Gln144Leu) c.524A>T (p.Gln175Leu) c.382-51747A>T (n.382-51747A>T) c.206A>T (p.Gln69Leu) c.593A>T (p.Gln198Leu) c.590A>T (p.Gln197Leu) c.134A>T (p.Gln45Leu) | |
10 | g.113089438G>C | CA378532666 | TCF7L2 | c.483+49312G>C (n.483+49312G>C) c.552+49312G>C (n.552+49312G>C) c.522G>C (p.Gln174His) c.432G>C (p.Gln144His) c.525G>C (p.Gln175His) c.382-51746G>C (n.382-51746G>C) c.207G>C (p.Gln69His) c.594G>C (p.Gln198His) c.591G>C (p.Gln197His) c.135G>C (p.Gln45His) | |
10 | g.113089438G>T | CA378532667 | TCF7L2 | c.483+49312G>T (n.483+49312G>T) c.552+49312G>T (n.552+49312G>T) c.522G>T (p.Gln174His) c.432G>T (p.Gln144His) c.525G>T (p.Gln175His) c.382-51746G>T (n.382-51746G>T) c.207G>T (p.Gln69His) c.594G>T (p.Gln198His) c.591G>T (p.Gln197His) c.135G>T (p.Gln45His) | |
10 | g.113089439C>A | CA378532668 | TCF7L2 | c.483+49313C>A (n.483+49313C>A) c.552+49313C>A (n.552+49313C>A) c.523C>A (p.His175Asn) c.433C>A (p.His145Asn) c.526C>A (p.His176Asn) c.382-51745C>A (n.382-51745C>A) c.208C>A (p.His70Asn) c.595C>A (p.His199Asn) c.592C>A (p.His198Asn) c.136C>A (p.His46Asn) | gnomAD v4 |
10 | g.113089439C>G | CA378532669 | TCF7L2 | c.483+49313C>G (n.483+49313C>G) c.552+49313C>G (n.552+49313C>G) c.523C>G (p.His175Asp) c.433C>G (p.His145Asp) c.526C>G (p.His176Asp) c.382-51745C>G (n.382-51745C>G) c.208C>G (p.His70Asp) c.595C>G (p.His199Asp) c.592C>G (p.His198Asp) c.136C>G (p.His46Asp) | |
10 | g.113089439C>T | CA378532670 | TCF7L2 | c.483+49313C>T (n.483+49313C>T) c.552+49313C>T (n.552+49313C>T) c.523C>T (p.His175Tyr) c.433C>T (p.His145Tyr) c.526C>T (p.His176Tyr) c.382-51745C>T (n.382-51745C>T) c.208C>T (p.His70Tyr) c.595C>T (p.His199Tyr) c.592C>T (p.His198Tyr) c.136C>T (p.His46Tyr) | |
10 | g.113089440A= | CA1937197433 | TCF7L2 | c.483+49314A= (n.483+49314A=) c.552+49314A= (n.552+49314A=) c.524A= (p.His175=) c.434A= (p.His145=) c.527A= (p.His176=) c.382-51744A= (n.382-51744A=) c.209A= (p.His70=) c.596A= (p.His199=) c.593A= (p.His198=) c.137A= (p.His46=) | |
10 | g.113089440A>C | CA378532671 | TCF7L2 | c.483+49314A>C (n.483+49314A>C) c.552+49314A>C (n.552+49314A>C) c.524A>C (p.His175Pro) c.434A>C (p.His145Pro) c.527A>C (p.His176Pro) c.382-51744A>C (n.382-51744A>C) c.209A>C (p.His70Pro) c.596A>C (p.His199Pro) c.593A>C (p.His198Pro) c.137A>C (p.His46Pro) | |
10 | g.113089440A>G | CA378532672 | TCF7L2 | c.483+49314A>G (n.483+49314A>G) c.552+49314A>G (n.552+49314A>G) c.524A>G (p.His175Arg) c.434A>G (p.His145Arg) c.527A>G (p.His176Arg) c.382-51744A>G (n.382-51744A>G) c.209A>G (p.His70Arg) c.596A>G (p.His199Arg) c.593A>G (p.His198Arg) c.137A>G (p.His46Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089440A>T | CA378532673 | TCF7L2 | c.483+49314A>T (n.483+49314A>T) c.552+49314A>T (n.552+49314A>T) c.524A>T (p.His175Leu) c.434A>T (p.His145Leu) c.527A>T (p.His176Leu) c.382-51744A>T (n.382-51744A>T) c.209A>T (p.His70Leu) c.596A>T (p.His199Leu) c.593A>T (p.His198Leu) c.137A>T (p.His46Leu) | |
10 | g.113089441C>A | CA378532675 | TCF7L2 | c.483+49315C>A (n.483+49315C>A) c.552+49315C>A (n.552+49315C>A) c.525C>A (p.His175Gln) c.435C>A (p.His145Gln) c.528C>A (p.His176Gln) c.382-51743C>A (n.382-51743C>A) c.210C>A (p.His70Gln) c.597C>A (p.His199Gln) c.594C>A (p.His198Gln) c.138C>A (p.His46Gln) | |
10 | g.113089441C>G | CA378532674 | TCF7L2 | c.483+49315C>G (n.483+49315C>G) c.552+49315C>G (n.552+49315C>G) c.525C>G (p.His175Gln) c.435C>G (p.His145Gln) c.528C>G (p.His176Gln) c.382-51743C>G (n.382-51743C>G) c.210C>G (p.His70Gln) c.597C>G (p.His199Gln) c.594C>G (p.His198Gln) c.138C>G (p.His46Gln) | |
10 | g.113089442T>A | CA378532676 | TCF7L2 | c.483+49316T>A (n.483+49316T>A) c.552+49316T>A (n.552+49316T>A) c.526T>A (p.Phe176Ile) c.436T>A (p.Phe146Ile) c.529T>A (p.Phe177Ile) c.382-51742T>A (n.382-51742T>A) c.211T>A (p.Phe71Ile) c.598T>A (p.Phe200Ile) c.595T>A (p.Phe199Ile) c.139T>A (p.Phe47Ile) | |
10 | g.113089442T>C | CA378532677 | TCF7L2 | c.483+49316T>C (n.483+49316T>C) c.552+49316T>C (n.552+49316T>C) c.526T>C (p.Phe176Leu) c.436T>C (p.Phe146Leu) c.529T>C (p.Phe177Leu) c.382-51742T>C (n.382-51742T>C) c.211T>C (p.Phe71Leu) c.598T>C (p.Phe200Leu) c.595T>C (p.Phe199Leu) c.139T>C (p.Phe47Leu) | |
10 | g.113089442T>G | CA378532678 | TCF7L2 | c.483+49316T>G (n.483+49316T>G) c.552+49316T>G (n.552+49316T>G) c.526T>G (p.Phe176Val) c.436T>G (p.Phe146Val) c.529T>G (p.Phe177Val) c.382-51742T>G (n.382-51742T>G) c.211T>G (p.Phe71Val) c.598T>G (p.Phe200Val) c.595T>G (p.Phe199Val) c.139T>G (p.Phe47Val) | |
10 | g.113089443T>A | CA378532679 | TCF7L2 | c.483+49317T>A (n.483+49317T>A) c.552+49317T>A (n.552+49317T>A) c.527T>A (p.Phe176Tyr) c.437T>A (p.Phe146Tyr) c.530T>A (p.Phe177Tyr) c.382-51741T>A (n.382-51741T>A) c.212T>A (p.Phe71Tyr) c.599T>A (p.Phe200Tyr) c.596T>A (p.Phe199Tyr) c.140T>A (p.Phe47Tyr) | |
10 | g.113089443T>C | CA378532680 | TCF7L2 | c.483+49317T>C (n.483+49317T>C) c.552+49317T>C (n.552+49317T>C) c.527T>C (p.Phe176Ser) c.437T>C (p.Phe146Ser) c.530T>C (p.Phe177Ser) c.382-51741T>C (n.382-51741T>C) c.212T>C (p.Phe71Ser) c.599T>C (p.Phe200Ser) c.596T>C (p.Phe199Ser) c.140T>C (p.Phe47Ser) | |
10 | g.113089443T>G | CA378532681 | TCF7L2 | c.483+49317T>G (n.483+49317T>G) c.552+49317T>G (n.552+49317T>G) c.527T>G (p.Phe176Cys) c.437T>G (p.Phe146Cys) c.530T>G (p.Phe177Cys) c.382-51741T>G (n.382-51741T>G) c.212T>G (p.Phe71Cys) c.599T>G (p.Phe200Cys) c.596T>G (p.Phe199Cys) c.140T>G (p.Phe47Cys) | |
10 | g.113089444C>A | CA378532683 | TCF7L2 | c.483+49318C>A (n.483+49318C>A) c.552+49318C>A (n.552+49318C>A) c.528C>A (p.Phe176Leu) c.438C>A (p.Phe146Leu) c.531C>A (p.Phe177Leu) c.382-51740C>A (n.382-51740C>A) c.213C>A (p.Phe71Leu) c.600C>A (p.Phe200Leu) c.597C>A (p.Phe199Leu) c.141C>A (p.Phe47Leu) | |
10 | g.113089444C>G | CA378532682 | TCF7L2 | c.483+49318C>G (n.483+49318C>G) c.552+49318C>G (n.552+49318C>G) c.528C>G (p.Phe176Leu) c.438C>G (p.Phe146Leu) c.531C>G (p.Phe177Leu) c.382-51740C>G (n.382-51740C>G) c.213C>G (p.Phe71Leu) c.600C>G (p.Phe200Leu) c.597C>G (p.Phe199Leu) c.141C>G (p.Phe47Leu) | |
10 | g.113089445T>A | CA378532684 | TCF7L2 | c.483+49319T>A (n.483+49319T>A) c.552+49319T>A (n.552+49319T>A) c.529T>A (p.Tyr177Asn) c.439T>A (p.Tyr147Asn) c.532T>A (p.Tyr178Asn) c.382-51739T>A (n.382-51739T>A) c.214T>A (p.Tyr72Asn) c.601T>A (p.Tyr201Asn) c.598T>A (p.Tyr200Asn) c.142T>A (p.Tyr48Asn) | |
10 | g.113089445T>C | CA378532685 | TCF7L2 | c.483+49319T>C (n.483+49319T>C) c.552+49319T>C (n.552+49319T>C) c.529T>C (p.Tyr177His) c.439T>C (p.Tyr147His) c.532T>C (p.Tyr178His) c.382-51739T>C (n.382-51739T>C) c.214T>C (p.Tyr72His) c.601T>C (p.Tyr201His) c.598T>C (p.Tyr200His) c.142T>C (p.Tyr48His) | gnomAD v4 |
10 | g.113089445T>G | CA378532686 | TCF7L2 | c.483+49319T>G (n.483+49319T>G) c.552+49319T>G (n.552+49319T>G) c.529T>G (p.Tyr177Asp) c.439T>G (p.Tyr147Asp) c.532T>G (p.Tyr178Asp) c.382-51739T>G (n.382-51739T>G) c.214T>G (p.Tyr72Asp) c.601T>G (p.Tyr201Asp) c.598T>G (p.Tyr200Asp) c.142T>G (p.Tyr48Asp) | |
10 | g.113089446A= | CA1937197434 | TCF7L2 | c.483+49320A= (n.483+49320A=) c.552+49320A= (n.552+49320A=) c.530A= (p.Tyr177=) c.440A= (p.Tyr147=) c.533A= (p.Tyr178=) c.382-51738A= (n.382-51738A=) c.215A= (p.Tyr72=) c.602A= (p.Tyr201=) c.599A= (p.Tyr200=) c.143A= (p.Tyr48=) | |
10 | g.113089446A>C | CA378532687 | TCF7L2 | c.483+49320A>C (n.483+49320A>C) c.552+49320A>C (n.552+49320A>C) c.530A>C (p.Tyr177Ser) c.440A>C (p.Tyr147Ser) c.533A>C (p.Tyr178Ser) c.382-51738A>C (n.382-51738A>C) c.215A>C (p.Tyr72Ser) c.602A>C (p.Tyr201Ser) c.599A>C (p.Tyr200Ser) c.143A>C (p.Tyr48Ser) | dbSNP |
10 | g.113089446A>G | CA214116533 | TCF7L2 | c.483+49320A>G (n.483+49320A>G) c.552+49320A>G (n.552+49320A>G) c.530A>G (p.Tyr177Cys) c.440A>G (p.Tyr147Cys) c.533A>G (p.Tyr178Cys) c.382-51738A>G (n.382-51738A>G) c.215A>G (p.Tyr72Cys) c.602A>G (p.Tyr201Cys) c.599A>G (p.Tyr200Cys) c.143A>G (p.Tyr48Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089446A>T | CA378532688 | TCF7L2 | c.483+49320A>T (n.483+49320A>T) c.552+49320A>T (n.552+49320A>T) c.530A>T (p.Tyr177Phe) c.440A>T (p.Tyr147Phe) c.533A>T (p.Tyr178Phe) c.382-51738A>T (n.382-51738A>T) c.215A>T (p.Tyr72Phe) c.602A>T (p.Tyr201Phe) c.599A>T (p.Tyr200Phe) c.143A>T (p.Tyr48Phe) | |
10 | g.113089446_113089447delinsAC | CA1937197435 | TCF7L2 | c.483+49320_483+49321delinsAC (n.483+49320_483+49321delinsAC) c.552+49320_552+49321delinsAC (n.552+49320_552+49321delinsAC) c.530_531delinsAC (p.Tyr177=) c.440_441delinsAC (p.Tyr147=) c.533_534delinsAC (p.Tyr178=) c.382-51738_382-51737delinsAC (n.382-51738_382-51737delinsAC) c.215_216delinsAC (p.Tyr72=) c.602_603delinsAC (p.Tyr201=) c.599_600delinsAC (p.Tyr200=) c.143_144delinsAC (p.Tyr48=) | |
10 | g.113089447C>A | CA378532690 | TCF7L2 | c.483+49321C>A (n.483+49321C>A) c.552+49321C>A (n.552+49321C>A) c.531C>A (p.Tyr177Ter) c.441C>A (p.Tyr147Ter) c.534C>A (p.Tyr178Ter) c.382-51737C>A (n.382-51737C>A) c.216C>A (p.Tyr72Ter) c.603C>A (p.Tyr201Ter) c.600C>A (p.Tyr200Ter) c.144C>A (p.Tyr48Ter) | |
10 | g.113089447C= | CA1937197436 | TCF7L2 | c.483+49321C= (n.483+49321C=) c.552+49321C= (n.552+49321C=) c.531C= (p.Tyr177=) c.441C= (p.Tyr147=) c.534C= (p.Tyr178=) c.382-51737C= (n.382-51737C=) c.216C= (p.Tyr72=) c.603C= (p.Tyr201=) c.600C= (p.Tyr200=) c.144C= (p.Tyr48=) | |
10 | g.113089447C>G | CA378532689 | TCF7L2 | c.483+49321C>G (n.483+49321C>G) c.552+49321C>G (n.552+49321C>G) c.531C>G (p.Tyr177Ter) c.441C>G (p.Tyr147Ter) c.534C>G (p.Tyr178Ter) c.382-51737C>G (n.382-51737C>G) c.216C>G (p.Tyr72Ter) c.603C>G (p.Tyr201Ter) c.600C>G (p.Tyr200Ter) c.144C>G (p.Tyr48Ter) | |
10 | g.113089447C>T | CA1937197437 | TCF7L2 | c.483+49321C>T (n.483+49321C>T) c.552+49321C>T (n.552+49321C>T) c.531C>T (p.Tyr177=) c.441C>T (p.Tyr147=) c.534C>T (p.Tyr178=) c.382-51737C>T (n.382-51737C>T) c.216C>T (p.Tyr72=) c.603C>T (p.Tyr201=) c.600C>T (p.Tyr200=) c.144C>T (p.Tyr48=) | dbSNP gnomAD v4 |
10 | g.113089453dup | CA5692892 | TCF7L2 | c.483+49327dup (n.483+49327dup) c.552+49327dup (n.552+49327dup) c.537dup (p.Ser180LeufsTer29) c.447dup (p.Ser150LeufsTer29) c.540dup (p.Ser181LeufsTer29) c.382-51731dup (n.382-51731dup) c.222dup (p.Ser75LeufsTer29) c.609dup (p.Ser204LeufsTer29) c.606dup (p.Ser203LeufsTer29) c.150dup (p.Ser51LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089453del | CA596094320 | TCF7L2 | c.483+49327del (n.483+49327del) c.552+49327del (n.552+49327del) c.537del (p.Ser180GlnfsTer13) c.447del (p.Ser150GlnfsTer13) c.540del (p.Ser181GlnfsTer13) c.382-51731del (n.382-51731del) c.222del (p.Ser75GlnfsTer13) c.609del (p.Ser204GlnfsTer13) c.606del (p.Ser203GlnfsTer13) c.150del (p.Ser51GlnfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089448C>A | CA378532691 | TCF7L2 | c.483+49322C>A (n.483+49322C>A) c.552+49322C>A (n.552+49322C>A) c.532C>A (p.Pro178Thr) c.442C>A (p.Pro148Thr) c.535C>A (p.Pro179Thr) c.382-51736C>A (n.382-51736C>A) c.217C>A (p.Pro73Thr) c.604C>A (p.Pro202Thr) c.601C>A (p.Pro201Thr) c.145C>A (p.Pro49Thr) | |
10 | g.113089448C= | CA1937197438 | TCF7L2 | c.483+49322C= (n.483+49322C=) c.552+49322C= (n.552+49322C=) c.532C= (p.Pro178=) c.442C= (p.Pro148=) c.535C= (p.Pro179=) c.382-51736C= (n.382-51736C=) c.217C= (p.Pro73=) c.604C= (p.Pro202=) c.601C= (p.Pro201=) c.145C= (p.Pro49=) | |
10 | g.113089448C>G | CA378532692 | TCF7L2 | c.483+49322C>G (n.483+49322C>G) c.552+49322C>G (n.552+49322C>G) c.532C>G (p.Pro178Ala) c.442C>G (p.Pro148Ala) c.535C>G (p.Pro179Ala) c.382-51736C>G (n.382-51736C>G) c.217C>G (p.Pro73Ala) c.604C>G (p.Pro202Ala) c.601C>G (p.Pro201Ala) c.145C>G (p.Pro49Ala) | |
10 | g.113089448C>T | CA5692893 | TCF7L2 | c.483+49322C>T (n.483+49322C>T) c.552+49322C>T (n.552+49322C>T) c.532C>T (p.Pro178Ser) c.442C>T (p.Pro148Ser) c.535C>T (p.Pro179Ser) c.382-51736C>T (n.382-51736C>T) c.217C>T (p.Pro73Ser) c.604C>T (p.Pro202Ser) c.601C>T (p.Pro201Ser) c.145C>T (p.Pro49Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089449C>A | CA378532693 | TCF7L2 | c.483+49323C>A (n.483+49323C>A) c.552+49323C>A (n.552+49323C>A) c.533C>A (p.Pro178His) c.443C>A (p.Pro148His) c.536C>A (p.Pro179His) c.382-51735C>A (n.382-51735C>A) c.218C>A (p.Pro73His) c.605C>A (p.Pro202His) c.602C>A (p.Pro201His) c.146C>A (p.Pro49His) | |
10 | g.113089449C= | CA1937197439 | TCF7L2 | c.483+49323C= (n.483+49323C=) c.552+49323C= (n.552+49323C=) c.533C= (p.Pro178=) c.443C= (p.Pro148=) c.536C= (p.Pro179=) c.382-51735C= (n.382-51735C=) c.218C= (p.Pro73=) c.605C= (p.Pro202=) c.602C= (p.Pro201=) c.146C= (p.Pro49=) | |
10 | g.113089449C>G | CA378532694 | TCF7L2 | c.483+49323C>G (n.483+49323C>G) c.552+49323C>G (n.552+49323C>G) c.533C>G (p.Pro178Arg) c.443C>G (p.Pro148Arg) c.536C>G (p.Pro179Arg) c.382-51735C>G (n.382-51735C>G) c.218C>G (p.Pro73Arg) c.605C>G (p.Pro202Arg) c.602C>G (p.Pro201Arg) c.146C>G (p.Pro49Arg) | |
10 | g.113089449C>T | CA5692894 | TCF7L2 | c.483+49323C>T (n.483+49323C>T) c.552+49323C>T (n.552+49323C>T) c.533C>T (p.Pro178Leu) c.443C>T (p.Pro148Leu) c.536C>T (p.Pro179Leu) c.382-51735C>T (n.382-51735C>T) c.218C>T (p.Pro73Leu) c.605C>T (p.Pro202Leu) c.602C>T (p.Pro201Leu) c.146C>T (p.Pro49Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089450C>A | CA5692896 | TCF7L2 | c.483+49324C>A (n.483+49324C>A) c.552+49324C>A (n.552+49324C>A) c.534C>A (p.Pro178=) c.444C>A (p.Pro148=) c.537C>A (p.Pro179=) c.382-51734C>A (n.382-51734C>A) c.219C>A (p.Pro73=) c.606C>A (p.Pro202=) c.603C>A (p.Pro201=) c.147C>A (p.Pro49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089450C= | CA1937197440 | TCF7L2 | c.483+49324C= (n.483+49324C=) c.552+49324C= (n.552+49324C=) c.534C= (p.Pro178=) c.444C= (p.Pro148=) c.537C= (p.Pro179=) c.382-51734C= (n.382-51734C=) c.219C= (p.Pro73=) c.606C= (p.Pro202=) c.603C= (p.Pro201=) c.147C= (p.Pro49=) | |
10 | g.113089450C>G | CA2574671139 | TCF7L2 | c.483+49324C>G (n.483+49324C>G) c.552+49324C>G (n.552+49324C>G) c.534C>G (p.Pro178=) c.444C>G (p.Pro148=) c.537C>G (p.Pro179=) c.382-51734C>G (n.382-51734C>G) c.219C>G (p.Pro73=) c.606C>G (p.Pro202=) c.603C>G (p.Pro201=) c.147C>G (p.Pro49=) | gnomAD v4 |
10 | g.113089450C>T | CA5692895 | TCF7L2 | c.483+49324C>T (n.483+49324C>T) c.552+49324C>T (n.552+49324C>T) c.534C>T (p.Pro178=) c.444C>T (p.Pro148=) c.537C>T (p.Pro179=) c.382-51734C>T (n.382-51734C>T) c.219C>T (p.Pro73=) c.606C>T (p.Pro202=) c.603C>T (p.Pro201=) c.147C>T (p.Pro49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089451C>A | CA5692897 | TCF7L2 | c.483+49325C>A (n.483+49325C>A) c.552+49325C>A (n.552+49325C>A) c.535C>A (p.Pro179Thr) c.445C>A (p.Pro149Thr) c.538C>A (p.Pro180Thr) c.382-51733C>A (n.382-51733C>A) c.220C>A (p.Pro74Thr) c.607C>A (p.Pro203Thr) c.604C>A (p.Pro202Thr) c.148C>A (p.Pro50Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089451C= | CA1937197441 | TCF7L2 | c.483+49325C= (n.483+49325C=) c.552+49325C= (n.552+49325C=) c.535C= (p.Pro179=) c.445C= (p.Pro149=) c.538C= (p.Pro180=) c.382-51733C= (n.382-51733C=) c.220C= (p.Pro74=) c.607C= (p.Pro203=) c.604C= (p.Pro202=) c.148C= (p.Pro50=) | |
10 | g.113089451C>G | CA378532695 | TCF7L2 | c.483+49325C>G (n.483+49325C>G) c.552+49325C>G (n.552+49325C>G) c.535C>G (p.Pro179Ala) c.445C>G (p.Pro149Ala) c.538C>G (p.Pro180Ala) c.382-51733C>G (n.382-51733C>G) c.220C>G (p.Pro74Ala) c.607C>G (p.Pro203Ala) c.604C>G (p.Pro202Ala) c.148C>G (p.Pro50Ala) | dbSNP gnomAD v4 |
10 | g.113089451C>T | CA5692898 | TCF7L2 | c.483+49325C>T (n.483+49325C>T) c.552+49325C>T (n.552+49325C>T) c.535C>T (p.Pro179Ser) c.445C>T (p.Pro149Ser) c.538C>T (p.Pro180Ser) c.382-51733C>T (n.382-51733C>T) c.220C>T (p.Pro74Ser) c.607C>T (p.Pro203Ser) c.604C>T (p.Pro202Ser) c.148C>T (p.Pro50Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089452C>A | CA5692899 | TCF7L2 | c.483+49326C>A (n.483+49326C>A) c.552+49326C>A (n.552+49326C>A) c.536C>A (p.Pro179His) c.446C>A (p.Pro149His) c.539C>A (p.Pro180His) c.382-51732C>A (n.382-51732C>A) c.221C>A (p.Pro74His) c.608C>A (p.Pro203His) c.605C>A (p.Pro202His) c.149C>A (p.Pro50His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089452C= | CA1937197442 | TCF7L2 | c.483+49326C= (n.483+49326C=) c.552+49326C= (n.552+49326C=) c.536C= (p.Pro179=) c.446C= (p.Pro149=) c.539C= (p.Pro180=) c.382-51732C= (n.382-51732C=) c.221C= (p.Pro74=) c.608C= (p.Pro203=) c.605C= (p.Pro202=) c.149C= (p.Pro50=) | |
10 | g.113089452C>G | CA5692900 | TCF7L2 | c.483+49326C>G (n.483+49326C>G) c.552+49326C>G (n.552+49326C>G) c.536C>G (p.Pro179Arg) c.446C>G (p.Pro149Arg) c.539C>G (p.Pro180Arg) c.382-51732C>G (n.382-51732C>G) c.221C>G (p.Pro74Arg) c.608C>G (p.Pro203Arg) c.605C>G (p.Pro202Arg) c.149C>G (p.Pro50Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089452C>T | CA378532696 | TCF7L2 | c.483+49326C>T (n.483+49326C>T) c.552+49326C>T (n.552+49326C>T) c.536C>T (p.Pro179Leu) c.446C>T (p.Pro149Leu) c.539C>T (p.Pro180Leu) c.382-51732C>T (n.382-51732C>T) c.221C>T (p.Pro74Leu) c.608C>T (p.Pro203Leu) c.605C>T (p.Pro202Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089452_113089453insA | CA2610944501 | TCF7L2 | c.483+49326_483+49327insA (n.483+49326_483+49327insA) c.552+49326_552+49327insA (n.552+49326_552+49327insA) c.536_537insA (p.Ser180LeufsTer29) c.446_447insA (p.Ser150LeufsTer29) c.539_540insA (p.Ser181LeufsTer29) c.382-51732_382-51731insA (n.382-51732_382-51731insA) c.221_222insA (p.Ser75LeufsTer29) c.608_609insA (p.Ser204LeufsTer29) c.605_606insA (p.Ser203LeufsTer29) c.149_150insA (p.Ser51LeufsTer29) | gnomAD v4 |
10 | g.113089453C>A | CA5692901 | TCF7L2 | c.483+49327C>A (n.483+49327C>A) c.552+49327C>A (n.552+49327C>A) c.537C>A (p.Pro179=) c.447C>A (p.Pro149=) c.540C>A (p.Pro180=) c.382-51731C>A (n.382-51731C>A) c.222C>A (p.Pro74=) c.609C>A (p.Pro203=) c.606C>A (p.Pro202=) c.150C>A (p.Pro50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089453C= | CA1937197444 | TCF7L2 | c.483+49327C= (n.483+49327C=) c.552+49327C= (n.552+49327C=) c.537C= (p.Pro179=) c.447C= (p.Pro149=) c.540C= (p.Pro180=) c.382-51731C= (n.382-51731C=) c.222C= (p.Pro74=) c.609C= (p.Pro203=) c.606C= (p.Pro202=) c.150C= (p.Pro50=) | |
10 | g.113089453C>G | CA2610944502 | TCF7L2 | c.483+49327C>G (n.483+49327C>G) c.552+49327C>G (n.552+49327C>G) c.537C>G (p.Pro179=) c.447C>G (p.Pro149=) c.540C>G (p.Pro180=) c.382-51731C>G (n.382-51731C>G) c.222C>G (p.Pro74=) c.609C>G (p.Pro203=) c.606C>G (p.Pro202=) c.150C>G (p.Pro50=) | gnomAD v4 |
10 | g.113089453C>T | CA214116534 | TCF7L2 | c.483+49327C>T (n.483+49327C>T) c.552+49327C>T (n.552+49327C>T) c.537C>T (p.Pro179=) c.447C>T (p.Pro149=) c.540C>T (p.Pro180=) c.382-51731C>T (n.382-51731C>T) c.222C>T (p.Pro74=) c.609C>T (p.Pro203=) c.606C>T (p.Pro202=) c.150C>T (p.Pro50=) | dbSNP gnomAD v4 |
10 | g.113089453_113089454delinsCT | CA1937197443 | TCF7L2 | c.483+49327_483+49328delinsCT (n.483+49327_483+49328delinsCT) c.552+49327_552+49328delinsCT (n.552+49327_552+49328delinsCT) c.537_538delinsCT (p.Pro179=) c.447_448delinsCT (p.Pro149=) c.540_541delinsCT (p.Pro180=) c.382-51731_382-51730delinsCT (n.382-51731_382-51730delinsCT) c.222_223delinsCT (p.Pro74=) c.609_610delinsCT (p.Pro203=) c.606_607delinsCT (p.Pro202=) c.150_151delinsCT (p.Pro50=) | |
10 | g.113089454del | CA660067911 | TCF7L2 | c.483+49328del (n.483+49328del) c.552+49328del (n.552+49328del) c.538del (p.Ser180GlnfsTer13) c.448del (p.Ser150GlnfsTer13) c.541del (p.Ser181GlnfsTer13) c.382-51730del (n.382-51730del) c.223del (p.Ser75GlnfsTer13) c.610del (p.Ser204GlnfsTer13) c.607del (p.Ser203GlnfsTer13) c.151del (p.Ser51GlnfsTer13) | dbSNP gnomAD v4 |
10 | g.113089454T>A | CA378532697 | TCF7L2 | c.483+49328T>A (n.483+49328T>A) c.552+49328T>A (n.552+49328T>A) c.538T>A (p.Ser180Thr) c.448T>A (p.Ser150Thr) c.541T>A (p.Ser181Thr) c.382-51730T>A (n.382-51730T>A) c.223T>A (p.Ser75Thr) c.610T>A (p.Ser204Thr) c.607T>A (p.Ser203Thr) c.151T>A (p.Ser51Thr) | |
10 | g.113089454T>C | CA378532698 | TCF7L2 | c.483+49328T>C (n.483+49328T>C) c.552+49328T>C (n.552+49328T>C) c.538T>C (p.Ser180Pro) c.448T>C (p.Ser150Pro) c.541T>C (p.Ser181Pro) c.382-51730T>C (n.382-51730T>C) c.223T>C (p.Ser75Pro) c.610T>C (p.Ser204Pro) c.607T>C (p.Ser203Pro) c.151T>C (p.Ser51Pro) | gnomAD v4 |
10 | g.113089454T>G | CA378532699 | TCF7L2 | c.483+49328T>G (n.483+49328T>G) c.552+49328T>G (n.552+49328T>G) c.538T>G (p.Ser180Ala) c.448T>G (p.Ser150Ala) c.541T>G (p.Ser181Ala) c.382-51730T>G (n.382-51730T>G) c.223T>G (p.Ser75Ala) c.610T>G (p.Ser204Ala) c.607T>G (p.Ser203Ala) c.151T>G (p.Ser51Ala) | |
10 | g.113089455C>A | CA378532700 | TCF7L2 | c.483+49329C>A (n.483+49329C>A) c.552+49329C>A (n.552+49329C>A) c.539C>A (p.Ser180Ter) c.449C>A (p.Ser150Ter) c.542C>A (p.Ser181Ter) c.382-51729C>A (n.382-51729C>A) c.224C>A (p.Ser75Ter) c.611C>A (p.Ser204Ter) c.608C>A (p.Ser203Ter) c.152C>A (p.Ser51Ter) | |
10 | g.113089455C= | CA1937197445 | TCF7L2 | c.483+49329C= (n.483+49329C=) c.552+49329C= (n.552+49329C=) c.539C= (p.Ser180=) c.449C= (p.Ser150=) c.542C= (p.Ser181=) c.382-51729C= (n.382-51729C=) c.224C= (p.Ser75=) c.611C= (p.Ser204=) c.608C= (p.Ser203=) c.152C= (p.Ser51=) | |
10 | g.113089455C>G | CA378532701 | TCF7L2 | c.483+49329C>G (n.483+49329C>G) c.552+49329C>G (n.552+49329C>G) c.539C>G (p.Ser180Ter) c.449C>G (p.Ser150Ter) c.542C>G (p.Ser181Ter) c.382-51729C>G (n.382-51729C>G) c.224C>G (p.Ser75Ter) c.611C>G (p.Ser204Ter) c.608C>G (p.Ser203Ter) c.152C>G (p.Ser51Ter) | |
10 | g.113089455C>T | CA214116535 | TCF7L2 | c.483+49329C>T (n.483+49329C>T) c.552+49329C>T (n.552+49329C>T) c.539C>T (p.Ser180Leu) c.449C>T (p.Ser150Leu) c.542C>T (p.Ser181Leu) c.382-51729C>T (n.382-51729C>T) c.224C>T (p.Ser75Leu) c.611C>T (p.Ser204Leu) c.608C>T (p.Ser203Leu) c.152C>T (p.Ser51Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.113089457G>A | CA378532702 | TCF7L2 | c.483+49331G>A (n.483+49331G>A) c.552+49331G>A (n.552+49331G>A) c.541G>A (p.Asp181Asn) c.451G>A (p.Asp151Asn) c.544G>A (p.Asp182Asn) c.382-51727G>A (n.382-51727G>A) c.226G>A (p.Asp76Asn) c.613G>A (p.Asp205Asn) c.610G>A (p.Asp204Asn) c.154G>A (p.Asp52Asn) | |
10 | g.113089457G>C | CA378532704 | TCF7L2 | c.483+49331G>C (n.483+49331G>C) c.552+49331G>C (n.552+49331G>C) c.541G>C (p.Asp181His) c.451G>C (p.Asp151His) c.544G>C (p.Asp182His) c.382-51727G>C (n.382-51727G>C) c.226G>C (p.Asp76His) c.613G>C (p.Asp205His) c.610G>C (p.Asp204His) c.154G>C (p.Asp52His) | |
10 | g.113089457G>T | CA378532703 | TCF7L2 | c.483+49331G>T (n.483+49331G>T) c.552+49331G>T (n.552+49331G>T) c.541G>T (p.Asp181Tyr) c.451G>T (p.Asp151Tyr) c.544G>T (p.Asp182Tyr) c.382-51727G>T (n.382-51727G>T) c.226G>T (p.Asp76Tyr) c.613G>T (p.Asp205Tyr) c.610G>T (p.Asp204Tyr) c.154G>T (p.Asp52Tyr) | |
10 | g.113089458A>C | CA378532705 | TCF7L2 | c.483+49332A>C (n.483+49332A>C) c.552+49332A>C (n.552+49332A>C) c.542A>C (p.Asp181Ala) c.452A>C (p.Asp151Ala) c.545A>C (p.Asp182Ala) c.382-51726A>C (n.382-51726A>C) c.227A>C (p.Asp76Ala) c.614A>C (p.Asp205Ala) c.611A>C (p.Asp204Ala) c.155A>C (p.Asp52Ala) | |
10 | g.113089458A>G | CA378532706 | TCF7L2 | c.483+49332A>G (n.483+49332A>G) c.552+49332A>G (n.552+49332A>G) c.542A>G (p.Asp181Gly) c.452A>G (p.Asp151Gly) c.545A>G (p.Asp182Gly) c.382-51726A>G (n.382-51726A>G) c.227A>G (p.Asp76Gly) c.614A>G (p.Asp205Gly) c.611A>G (p.Asp204Gly) c.155A>G (p.Asp52Gly) | gnomAD v4 |
10 | g.113089458A>T | CA378532707 | TCF7L2 | c.483+49332A>T (n.483+49332A>T) c.552+49332A>T (n.552+49332A>T) c.542A>T (p.Asp181Val) c.452A>T (p.Asp151Val) c.545A>T (p.Asp182Val) c.382-51726A>T (n.382-51726A>T) c.227A>T (p.Asp76Val) c.614A>T (p.Asp205Val) c.611A>T (p.Asp204Val) c.155A>T (p.Asp52Val) | |
10 | g.113089459C>A | CA378532708 | TCF7L2 | c.483+49333C>A (n.483+49333C>A) c.552+49333C>A (n.552+49333C>A) c.543C>A (p.Asp181Glu) c.453C>A (p.Asp151Glu) c.546C>A (p.Asp182Glu) c.382-51725C>A (n.382-51725C>A) c.228C>A (p.Asp76Glu) c.615C>A (p.Asp205Glu) c.612C>A (p.Asp204Glu) c.156C>A (p.Asp52Glu) | dbSNP |
10 | g.113089459C= | CA1937197446 | TCF7L2 | c.483+49333C= (n.483+49333C=) c.552+49333C= (n.552+49333C=) c.543C= (p.Asp181=) c.453C= (p.Asp151=) c.546C= (p.Asp182=) c.382-51725C= (n.382-51725C=) c.228C= (p.Asp76=) c.615C= (p.Asp205=) c.612C= (p.Asp204=) c.156C= (p.Asp52=) | |
10 | g.113089459C>G | CA378532709 | TCF7L2 | c.483+49333C>G (n.483+49333C>G) c.552+49333C>G (n.552+49333C>G) c.543C>G (p.Asp181Glu) c.453C>G (p.Asp151Glu) c.546C>G (p.Asp182Glu) c.382-51725C>G (n.382-51725C>G) c.228C>G (p.Asp76Glu) c.615C>G (p.Asp205Glu) c.612C>G (p.Asp204Glu) c.156C>G (p.Asp52Glu) | |
10 | g.113089459C>T | CA2574671140 | TCF7L2 | c.483+49333C>T (n.483+49333C>T) c.552+49333C>T (n.552+49333C>T) c.543C>T (p.Asp181=) c.453C>T (p.Asp151=) c.546C>T (p.Asp182=) c.382-51725C>T (n.382-51725C>T) c.228C>T (p.Asp76=) c.615C>T (p.Asp205=) c.612C>T (p.Asp204=) c.156C>T (p.Asp52=) | |
10 | g.113089460T>A | CA378532710 | TCF7L2 | c.483+49334T>A (n.483+49334T>A) c.552+49334T>A (n.552+49334T>A) c.544T>A (p.Phe182Ile) c.454T>A (p.Phe152Ile) c.547T>A (p.Phe183Ile) c.382-51724T>A (n.382-51724T>A) c.229T>A (p.Phe77Ile) c.616T>A (p.Phe206Ile) c.613T>A (p.Phe205Ile) c.157T>A (p.Phe53Ile) | |
10 | g.113089460T>C | CA378532712 | TCF7L2 | c.483+49334T>C (n.483+49334T>C) c.552+49334T>C (n.552+49334T>C) c.544T>C (p.Phe182Leu) c.454T>C (p.Phe152Leu) c.547T>C (p.Phe183Leu) c.382-51724T>C (n.382-51724T>C) c.229T>C (p.Phe77Leu) c.616T>C (p.Phe206Leu) c.613T>C (p.Phe205Leu) c.157T>C (p.Phe53Leu) | |
10 | g.113089460T>G | CA378532711 | TCF7L2 | c.483+49334T>G (n.483+49334T>G) c.552+49334T>G (n.552+49334T>G) c.544T>G (p.Phe182Val) c.454T>G (p.Phe152Val) c.547T>G (p.Phe183Val) c.382-51724T>G (n.382-51724T>G) c.229T>G (p.Phe77Val) c.616T>G (p.Phe206Val) c.613T>G (p.Phe205Val) c.157T>G (p.Phe53Val) | |
10 | g.113089461T>A | CA378532713 | TCF7L2 | c.483+49335T>A (n.483+49335T>A) c.552+49335T>A (n.552+49335T>A) c.545T>A (p.Phe182Tyr) c.455T>A (p.Phe152Tyr) c.548T>A (p.Phe183Tyr) c.382-51723T>A (n.382-51723T>A) c.230T>A (p.Phe77Tyr) c.617T>A (p.Phe206Tyr) c.614T>A (p.Phe205Tyr) c.158T>A (p.Phe53Tyr) | |
10 | g.113089461T>C | CA378532714 | TCF7L2 | c.483+49335T>C (n.483+49335T>C) c.552+49335T>C (n.552+49335T>C) c.545T>C (p.Phe182Ser) c.455T>C (p.Phe152Ser) c.548T>C (p.Phe183Ser) c.382-51723T>C (n.382-51723T>C) c.230T>C (p.Phe77Ser) c.617T>C (p.Phe206Ser) c.614T>C (p.Phe205Ser) c.158T>C (p.Phe53Ser) | |
10 | g.113089461T>G | CA378532715 | TCF7L2 | c.483+49335T>G (n.483+49335T>G) c.552+49335T>G (n.552+49335T>G) c.545T>G (p.Phe182Cys) c.455T>G (p.Phe152Cys) c.548T>G (p.Phe183Cys) c.382-51723T>G (n.382-51723T>G) c.230T>G (p.Phe77Cys) c.617T>G (p.Phe206Cys) c.614T>G (p.Phe205Cys) c.158T>G (p.Phe53Cys) | |
10 | g.113089462C>A | CA378532716 | TCF7L2 | c.483+49336C>A (n.483+49336C>A) c.552+49336C>A (n.552+49336C>A) c.546C>A (p.Phe182Leu) c.456C>A (p.Phe152Leu) c.549C>A (p.Phe183Leu) c.382-51722C>A (n.382-51722C>A) c.231C>A (p.Phe77Leu) c.618C>A (p.Phe206Leu) c.615C>A (p.Phe205Leu) c.159C>A (p.Phe53Leu) | |
10 | g.113089462C= | CA1937197447 | TCF7L2 | c.483+49336C= (n.483+49336C=) c.552+49336C= (n.552+49336C=) c.546C= (p.Phe182=) c.456C= (p.Phe152=) c.549C= (p.Phe183=) c.382-51722C= (n.382-51722C=) c.231C= (p.Phe77=) c.618C= (p.Phe206=) c.615C= (p.Phe205=) c.159C= (p.Phe53=) | |
10 | g.113089462C>G | CA378532717 | TCF7L2 | c.483+49336C>G (n.483+49336C>G) c.552+49336C>G (n.552+49336C>G) c.546C>G (p.Phe182Leu) c.456C>G (p.Phe152Leu) c.549C>G (p.Phe183Leu) c.382-51722C>G (n.382-51722C>G) c.231C>G (p.Phe77Leu) c.618C>G (p.Phe206Leu) c.615C>G (p.Phe205Leu) c.159C>G (p.Phe53Leu) | |
10 | g.113089462C>T | CA5692902 | TCF7L2 | c.483+49336C>T (n.483+49336C>T) c.552+49336C>T (n.552+49336C>T) c.546C>T (p.Phe182=) c.456C>T (p.Phe152=) c.549C>T (p.Phe183=) c.382-51722C>T (n.382-51722C>T) c.231C>T (p.Phe77=) c.618C>T (p.Phe206=) c.615C>T (p.Phe205=) c.159C>T (p.Phe53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089463A>C | CA378532718 | TCF7L2 | c.483+49337A>C (n.483+49337A>C) c.552+49337A>C (n.552+49337A>C) c.547A>C (p.Thr183Pro) c.457A>C (p.Thr153Pro) c.550A>C (p.Thr184Pro) c.382-51721A>C (n.382-51721A>C) c.232A>C (p.Thr78Pro) c.619A>C (p.Thr207Pro) c.616A>C (p.Thr206Pro) c.160A>C (p.Thr54Pro) | gnomAD v4 |
10 | g.113089463A>G | CA378532719 | TCF7L2 | c.483+49337A>G (n.483+49337A>G) c.552+49337A>G (n.552+49337A>G) c.547A>G (p.Thr183Ala) c.457A>G (p.Thr153Ala) c.550A>G (p.Thr184Ala) c.382-51721A>G (n.382-51721A>G) c.232A>G (p.Thr78Ala) c.619A>G (p.Thr207Ala) c.616A>G (p.Thr206Ala) c.160A>G (p.Thr54Ala) | |
10 | g.113089463A>T | CA378532720 | TCF7L2 | c.483+49337A>T (n.483+49337A>T) c.552+49337A>T (n.552+49337A>T) c.547A>T (p.Thr183Ser) c.457A>T (p.Thr153Ser) c.550A>T (p.Thr184Ser) c.382-51721A>T (n.382-51721A>T) c.232A>T (p.Thr78Ser) c.619A>T (p.Thr207Ser) c.616A>T (p.Thr206Ser) c.160A>T (p.Thr54Ser) | |
10 | g.113089464C>A | CA378532721 | TCF7L2 | c.483+49338C>A (n.483+49338C>A) c.552+49338C>A (n.552+49338C>A) c.548C>A (p.Thr183Asn) c.458C>A (p.Thr153Asn) c.551C>A (p.Thr184Asn) c.382-51720C>A (n.382-51720C>A) c.233C>A (p.Thr78Asn) c.620C>A (p.Thr207Asn) c.617C>A (p.Thr206Asn) c.161C>A (p.Thr54Asn) | |
10 | g.113089464C>G | CA378532722 | TCF7L2 | c.483+49338C>G (n.483+49338C>G) c.552+49338C>G (n.552+49338C>G) c.548C>G (p.Thr183Ser) c.458C>G (p.Thr153Ser) c.551C>G (p.Thr184Ser) c.382-51720C>G (n.382-51720C>G) c.233C>G (p.Thr78Ser) c.620C>G (p.Thr207Ser) c.617C>G (p.Thr206Ser) c.161C>G (p.Thr54Ser) | |
10 | g.113089464C>T | CA378532723 | TCF7L2 | c.483+49338C>T (n.483+49338C>T) c.552+49338C>T (n.552+49338C>T) c.548C>T (p.Thr183Ile) c.458C>T (p.Thr153Ile) c.551C>T (p.Thr184Ile) c.382-51720C>T (n.382-51720C>T) c.233C>T (p.Thr78Ile) c.620C>T (p.Thr207Ile) c.617C>T (p.Thr206Ile) c.161C>T (p.Thr54Ile) | |
10 | g.113089465T>C | CA5692903 | TCF7L2 | c.483+49339T>C (n.483+49339T>C) c.552+49339T>C (n.552+49339T>C) c.549T>C (p.Thr183=) c.459T>C (p.Thr153=) c.552T>C (p.Thr184=) c.382-51719T>C (n.382-51719T>C) c.234T>C (p.Thr78=) c.621T>C (p.Thr207=) c.618T>C (p.Thr206=) c.162T>C (p.Thr54=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.113089465T= | CA1937197448 | TCF7L2 | c.483+49339T= (n.483+49339T=) c.552+49339T= (n.552+49339T=) c.549T= (p.Thr183=) c.459T= (p.Thr153=) c.552T= (p.Thr184=) c.382-51719T= (n.382-51719T=) c.234T= (p.Thr78=) c.621T= (p.Thr207=) c.618T= (p.Thr206=) c.162T= (p.Thr54=) | |
10 | g.113089466G>A | CA378532724 | TCF7L2 | c.483+49340G>A (n.483+49340G>A) c.552+49340G>A (n.552+49340G>A) c.550G>A (p.Val184Ile) c.460G>A (p.Val154Ile) c.553G>A (p.Val185Ile) c.382-51718G>A (n.382-51718G>A) c.235G>A (p.Val79Ile) c.622G>A (p.Val208Ile) c.619G>A (p.Val207Ile) c.163G>A (p.Val55Ile) | |
10 | g.113089466G>C | CA378532725 | TCF7L2 | c.483+49340G>C (n.483+49340G>C) c.552+49340G>C (n.552+49340G>C) c.550G>C (p.Val184Leu) c.460G>C (p.Val154Leu) c.553G>C (p.Val185Leu) c.382-51718G>C (n.382-51718G>C) c.235G>C (p.Val79Leu) c.622G>C (p.Val208Leu) c.619G>C (p.Val207Leu) c.163G>C (p.Val55Leu) | |
10 | g.113089466G= | CA1937197449 | TCF7L2 | c.483+49340G= (n.483+49340G=) c.552+49340G= (n.552+49340G=) c.550G= (p.Val184=) c.460G= (p.Val154=) c.553G= (p.Val185=) c.382-51718G= (n.382-51718G=) c.235G= (p.Val79=) c.622G= (p.Val208=) c.619G= (p.Val207=) c.163G= (p.Val55=) | |
10 | g.113089466G>T | CA5692904 | TCF7L2 | c.483+49340G>T (n.483+49340G>T) c.552+49340G>T (n.552+49340G>T) c.550G>T (p.Val184Phe) c.460G>T (p.Val154Phe) c.553G>T (p.Val185Phe) c.382-51718G>T (n.382-51718G>T) c.235G>T (p.Val79Phe) c.622G>T (p.Val208Phe) c.619G>T (p.Val207Phe) c.163G>T (p.Val55Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089467T>A | CA378532726 | TCF7L2 | c.483+49341T>A (n.483+49341T>A) c.552+49341T>A (n.552+49341T>A) c.551T>A (p.Val184Asp) c.461T>A (p.Val154Asp) c.554T>A (p.Val185Asp) c.382-51717T>A (n.382-51717T>A) c.236T>A (p.Val79Asp) c.623T>A (p.Val208Asp) c.620T>A (p.Val207Asp) c.164T>A (p.Val55Asp) | |
10 | g.113089467T>C | CA378532727 | TCF7L2 | c.483+49341T>C (n.483+49341T>C) c.552+49341T>C (n.552+49341T>C) c.551T>C (p.Val184Ala) c.461T>C (p.Val154Ala) c.554T>C (p.Val185Ala) c.382-51717T>C (n.382-51717T>C) c.236T>C (p.Val79Ala) c.623T>C (p.Val208Ala) c.620T>C (p.Val207Ala) c.164T>C (p.Val55Ala) | |
10 | g.113089467T>G | CA378532728 | TCF7L2 | c.483+49341T>G (n.483+49341T>G) c.552+49341T>G (n.552+49341T>G) c.551T>G (p.Val184Gly) c.461T>G (p.Val154Gly) c.554T>G (p.Val185Gly) c.382-51717T>G (n.382-51717T>G) c.236T>G (p.Val79Gly) c.623T>G (p.Val208Gly) c.620T>G (p.Val207Gly) c.164T>G (p.Val55Gly) | |
10 | g.113089468C= | CA1937197450 | TCF7L2 | c.483+49342C= (n.483+49342C=) c.552+49342C= (n.552+49342C=) c.552C= (p.Val184=) c.462C= (p.Val154=) c.555C= (p.Val185=) c.382-51716C= (n.382-51716C=) c.237C= (p.Val79=) c.624C= (p.Val208=) c.621C= (p.Val207=) c.165C= (p.Val55=) | |
10 | g.113089468C>G | CA2832564248 | TCF7L2 | c.483+49342C>G (n.483+49342C>G) c.552+49342C>G (n.552+49342C>G) c.552C>G (p.Val184=) c.462C>G (p.Val154=) c.555C>G (p.Val185=) c.382-51716C>G (n.382-51716C>G) c.237C>G (p.Val79=) c.624C>G (p.Val208=) c.621C>G (p.Val207=) c.165C>G (p.Val55=) | |
10 | g.113089468C>T | CA596094323 | TCF7L2 | c.483+49342C>T (n.483+49342C>T) c.552+49342C>T (n.552+49342C>T) c.552C>T (p.Val184=) c.462C>T (p.Val154=) c.555C>T (p.Val185=) c.382-51716C>T (n.382-51716C>T) c.237C>T (p.Val79=) c.624C>T (p.Val208=) c.621C>T (p.Val207=) c.165C>T (p.Val55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089469A>C | CA378532729 | TCF7L2 | c.483+49343A>C (n.483+49343A>C) c.552+49343A>C (n.552+49343A>C) c.553A>C (p.Ser185Arg) c.463A>C (p.Ser155Arg) c.556A>C (p.Ser186Arg) c.382-51715A>C (n.382-51715A>C) c.238A>C (p.Ser80Arg) c.625A>C (p.Ser209Arg) c.622A>C (p.Ser208Arg) c.166A>C (p.Ser56Arg) | |
10 | g.113089469A>G | CA378532730 | TCF7L2 | c.483+49343A>G (n.483+49343A>G) c.552+49343A>G (n.552+49343A>G) c.553A>G (p.Ser185Gly) c.463A>G (p.Ser155Gly) c.556A>G (p.Ser186Gly) c.382-51715A>G (n.382-51715A>G) c.238A>G (p.Ser80Gly) c.625A>G (p.Ser209Gly) c.622A>G (p.Ser208Gly) c.166A>G (p.Ser56Gly) | |
10 | g.113089469A>T | CA378532731 | TCF7L2 | c.483+49343A>T (n.483+49343A>T) c.552+49343A>T (n.552+49343A>T) c.553A>T (p.Ser185Cys) c.463A>T (p.Ser155Cys) c.556A>T (p.Ser186Cys) c.382-51715A>T (n.382-51715A>T) c.238A>T (p.Ser80Cys) c.625A>T (p.Ser209Cys) c.622A>T (p.Ser208Cys) c.166A>T (p.Ser56Cys) | |
10 | g.113089470G>A | CA378532734 | TCF7L2 | c.483+49344G>A (n.483+49344G>A) c.552+49344G>A (n.552+49344G>A) c.554G>A (p.Ser185Asn) c.464G>A (p.Ser155Asn) c.557G>A (p.Ser186Asn) c.382-51714G>A (n.382-51714G>A) c.239G>A (p.Ser80Asn) c.626G>A (p.Ser209Asn) c.623G>A (p.Ser208Asn) c.167G>A (p.Ser56Asn) | |
10 | g.113089470G>C | CA378532732 | TCF7L2 | c.483+49344G>C (n.483+49344G>C) c.552+49344G>C (n.552+49344G>C) c.554G>C (p.Ser185Thr) c.464G>C (p.Ser155Thr) c.557G>C (p.Ser186Thr) c.382-51714G>C (n.382-51714G>C) c.239G>C (p.Ser80Thr) c.626G>C (p.Ser209Thr) c.623G>C (p.Ser208Thr) c.167G>C (p.Ser56Thr) | |
10 | g.113089470G>T | CA378532733 | TCF7L2 | c.483+49344G>T (n.483+49344G>T) c.552+49344G>T (n.552+49344G>T) c.554G>T (p.Ser185Ile) c.464G>T (p.Ser155Ile) c.557G>T (p.Ser186Ile) c.382-51714G>T (n.382-51714G>T) c.239G>T (p.Ser80Ile) c.626G>T (p.Ser209Ile) c.623G>T (p.Ser208Ile) c.167G>T (p.Ser56Ile) | COSMIC |
10 | g.113089471C>A | CA378532735 | TCF7L2 | c.483+49345C>A (n.483+49345C>A) c.552+49345C>A (n.552+49345C>A) c.555C>A (p.Ser185Arg) c.465C>A (p.Ser155Arg) c.558C>A (p.Ser186Arg) c.382-51713C>A (n.382-51713C>A) c.240C>A (p.Ser80Arg) c.627C>A (p.Ser209Arg) c.624C>A (p.Ser208Arg) c.168C>A (p.Ser56Arg) | |
10 | g.113089471C>G | CA378532736 | TCF7L2 | c.483+49345C>G (n.483+49345C>G) c.552+49345C>G (n.552+49345C>G) c.555C>G (p.Ser185Arg) c.465C>G (p.Ser155Arg) c.558C>G (p.Ser186Arg) c.382-51713C>G (n.382-51713C>G) c.240C>G (p.Ser80Arg) c.627C>G (p.Ser209Arg) c.624C>G (p.Ser208Arg) c.168C>G (p.Ser56Arg) | |
10 | g.113089471C>T | CA2610944503 | TCF7L2 | c.483+49345C>T (n.483+49345C>T) c.552+49345C>T (n.552+49345C>T) c.555C>T (p.Ser185=) c.465C>T (p.Ser155=) c.558C>T (p.Ser186=) c.382-51713C>T (n.382-51713C>T) c.240C>T (p.Ser80=) c.627C>T (p.Ser209=) c.624C>T (p.Ser208=) c.168C>T (p.Ser56=) | gnomAD v4 |
10 | g.113089471_113089472delinsCA | CA1937197451 | TCF7L2 | c.483+49345_483+49346delinsCA (n.483+49345_483+49346delinsCA) c.552+49345_552+49346delinsCA (n.552+49345_552+49346delinsCA) c.555_556delinsCA (p.Ser185=) c.465_466delinsCA (p.Ser155=) c.558_559delinsCA (p.Ser186=) c.382-51713_382-51712delinsCA (n.382-51713_382-51712delinsCA) c.240_241delinsCA (p.Ser80=) c.627_628delinsCA (p.Ser209=) c.624_625delinsCA (p.Ser208=) c.168_169delinsCA (p.Ser56=) | |
10 | g.113089472del | CA932687481 | TCF7L2 | c.483+49346del (n.483+49346del) c.552+49346del (n.552+49346del) c.556del (p.Thr186LeufsTer7) c.466del (p.Thr156LeufsTer7) c.559del (p.Thr187LeufsTer7) c.382-51712del (n.382-51712del) c.241del (p.Thr81LeufsTer7) c.628del (p.Thr210LeufsTer7) c.625del (p.Thr209LeufsTer7) c.169del (p.Thr57LeufsTer7) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089472A= | CA1937197452 | TCF7L2 | c.483+49346A= (n.483+49346A=) c.552+49346A= (n.552+49346A=) c.556A= (p.Thr186=) c.466A= (p.Thr156=) c.559A= (p.Thr187=) c.382-51712A= (n.382-51712A=) c.241A= (p.Thr81=) c.628A= (p.Thr210=) c.625A= (p.Thr209=) c.169A= (p.Thr57=) | |
10 | g.113089472A>C | CA378532737 | TCF7L2 | c.483+49346A>C (n.483+49346A>C) c.552+49346A>C (n.552+49346A>C) c.556A>C (p.Thr186Pro) c.466A>C (p.Thr156Pro) c.559A>C (p.Thr187Pro) c.382-51712A>C (n.382-51712A>C) c.241A>C (p.Thr81Pro) c.628A>C (p.Thr210Pro) c.625A>C (p.Thr209Pro) c.169A>C (p.Thr57Pro) | |
10 | g.113089472A>G | CA378532738 | TCF7L2 | c.483+49346A>G (n.483+49346A>G) c.552+49346A>G (n.552+49346A>G) c.556A>G (p.Thr186Ala) c.466A>G (p.Thr156Ala) c.559A>G (p.Thr187Ala) c.382-51712A>G (n.382-51712A>G) c.241A>G (p.Thr81Ala) c.628A>G (p.Thr210Ala) c.625A>G (p.Thr209Ala) c.169A>G (p.Thr57Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089472A>T | CA378532739 | TCF7L2 | c.483+49346A>T (n.483+49346A>T) c.552+49346A>T (n.552+49346A>T) c.556A>T (p.Thr186Ser) c.466A>T (p.Thr156Ser) c.559A>T (p.Thr187Ser) c.382-51712A>T (n.382-51712A>T) c.241A>T (p.Thr81Ser) c.628A>T (p.Thr210Ser) c.625A>T (p.Thr209Ser) c.169A>T (p.Thr57Ser) | |
10 | g.113089473C>A | CA378532740 | TCF7L2 | c.483+49347C>A (n.483+49347C>A) c.552+49347C>A (n.552+49347C>A) c.557C>A (p.Thr186Asn) c.467C>A (p.Thr156Asn) c.560C>A (p.Thr187Asn) c.382-51711C>A (n.382-51711C>A) c.242C>A (p.Thr81Asn) c.629C>A (p.Thr210Asn) c.626C>A (p.Thr209Asn) c.170C>A (p.Thr57Asn) | |
10 | g.113089473C>G | CA378532742 | TCF7L2 | c.483+49347C>G (n.483+49347C>G) c.552+49347C>G (n.552+49347C>G) c.557C>G (p.Thr186Ser) c.467C>G (p.Thr156Ser) c.560C>G (p.Thr187Ser) c.382-51711C>G (n.382-51711C>G) c.242C>G (p.Thr81Ser) c.629C>G (p.Thr210Ser) c.626C>G (p.Thr209Ser) c.170C>G (p.Thr57Ser) | gnomAD v4 |
10 | g.113089473C>T | CA378532741 | TCF7L2 | c.483+49347C>T (n.483+49347C>T) c.552+49347C>T (n.552+49347C>T) c.557C>T (p.Thr186Ile) c.467C>T (p.Thr156Ile) c.560C>T (p.Thr187Ile) c.382-51711C>T (n.382-51711C>T) c.242C>T (p.Thr81Ile) c.629C>T (p.Thr210Ile) c.626C>T (p.Thr209Ile) c.170C>T (p.Thr57Ile) | |
10 | g.113089475C>A | CA378532743 | TCF7L2 | c.483+49349C>A (n.483+49349C>A) c.552+49349C>A (n.552+49349C>A) c.559C>A (p.Gln187Lys) c.469C>A (p.Gln157Lys) c.562C>A (p.Gln188Lys) c.382-51709C>A (n.382-51709C>A) c.244C>A (p.Gln82Lys) c.631C>A (p.Gln211Lys) c.628C>A (p.Gln210Lys) c.172C>A (p.Gln58Lys) | |
10 | g.113089475C= | CA1937197453 | TCF7L2 | c.483+49349C= (n.483+49349C=) c.552+49349C= (n.552+49349C=) c.559C= (p.Gln187=) c.469C= (p.Gln157=) c.562C= (p.Gln188=) c.382-51709C= (n.382-51709C=) c.244C= (p.Gln82=) c.631C= (p.Gln211=) c.628C= (p.Gln210=) c.172C= (p.Gln58=) | |
10 | g.113089475C>G | CA5692905 | TCF7L2 | c.483+49349C>G (n.483+49349C>G) c.552+49349C>G (n.552+49349C>G) c.559C>G (p.Gln187Glu) c.469C>G (p.Gln157Glu) c.562C>G (p.Gln188Glu) c.382-51709C>G (n.382-51709C>G) c.244C>G (p.Gln82Glu) c.631C>G (p.Gln211Glu) c.628C>G (p.Gln210Glu) c.172C>G (p.Gln58Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089475C>T | CA378532744 | TCF7L2 | c.483+49349C>T (n.483+49349C>T) c.552+49349C>T (n.552+49349C>T) c.559C>T (p.Gln187Ter) c.469C>T (p.Gln157Ter) c.562C>T (p.Gln188Ter) c.382-51709C>T (n.382-51709C>T) c.244C>T (p.Gln82Ter) c.631C>T (p.Gln211Ter) c.628C>T (p.Gln210Ter) c.172C>T (p.Gln58Ter) | |
10 | g.113089476A>C | CA378532745 | TCF7L2 | c.483+49350A>C (n.483+49350A>C) c.552+49350A>C (n.552+49350A>C) c.560A>C (p.Gln187Pro) c.470A>C (p.Gln157Pro) c.563A>C (p.Gln188Pro) c.382-51708A>C (n.382-51708A>C) c.245A>C (p.Gln82Pro) c.632A>C (p.Gln211Pro) c.629A>C (p.Gln210Pro) c.173A>C (p.Gln58Pro) | gnomAD v4 |
10 | g.113089476A>G | CA378532746 | TCF7L2 | c.483+49350A>G (n.483+49350A>G) c.552+49350A>G (n.552+49350A>G) c.560A>G (p.Gln187Arg) c.470A>G (p.Gln157Arg) c.563A>G (p.Gln188Arg) c.382-51708A>G (n.382-51708A>G) c.245A>G (p.Gln82Arg) c.632A>G (p.Gln211Arg) c.629A>G (p.Gln210Arg) c.173A>G (p.Gln58Arg) | |
10 | g.113089476A>T | CA378532747 | TCF7L2 | c.483+49350A>T (n.483+49350A>T) c.552+49350A>T (n.552+49350A>T) c.560A>T (p.Gln187Leu) c.470A>T (p.Gln157Leu) c.563A>T (p.Gln188Leu) c.382-51708A>T (n.382-51708A>T) c.245A>T (p.Gln82Leu) c.632A>T (p.Gln211Leu) c.629A>T (p.Gln210Leu) c.173A>T (p.Gln58Leu) | COSMIC |
10 | g.113089477A= | CA1937197454 | TCF7L2 | c.483+49351A= (n.483+49351A=) c.552+49351A= (n.552+49351A=) c.561A= (p.Gln187=) c.471A= (p.Gln157=) c.564A= (p.Gln188=) c.382-51707A= (n.382-51707A=) c.246A= (p.Gln82=) c.633A= (p.Gln211=) c.630A= (p.Gln210=) c.174A= (p.Gln58=) | |
10 | g.113089477A>C | CA378532748 | TCF7L2 | c.483+49351A>C (n.483+49351A>C) c.552+49351A>C (n.552+49351A>C) c.561A>C (p.Gln187His) c.471A>C (p.Gln157His) c.564A>C (p.Gln188His) c.382-51707A>C (n.382-51707A>C) c.246A>C (p.Gln82His) c.633A>C (p.Gln211His) c.630A>C (p.Gln210His) c.174A>C (p.Gln58His) | gnomAD v4 |
10 | g.113089477A>G | CA596094325 | TCF7L2 | c.483+49351A>G (n.483+49351A>G) c.552+49351A>G (n.552+49351A>G) c.561A>G (p.Gln187=) c.471A>G (p.Gln157=) c.564A>G (p.Gln188=) c.382-51707A>G (n.382-51707A>G) c.246A>G (p.Gln82=) c.633A>G (p.Gln211=) c.630A>G (p.Gln210=) c.174A>G (p.Gln58=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089477A>T | CA378532749 | TCF7L2 | c.483+49351A>T (n.483+49351A>T) c.552+49351A>T (n.552+49351A>T) c.561A>T (p.Gln187His) c.471A>T (p.Gln157His) c.564A>T (p.Gln188His) c.382-51707A>T (n.382-51707A>T) c.246A>T (p.Gln82His) c.633A>T (p.Gln211His) c.630A>T (p.Gln210His) c.174A>T (p.Gln58His) | |
10 | g.113089478G>A | CA378532750 | TCF7L2 | c.483+49352G>A (n.483+49352G>A) c.552+49352G>A (n.552+49352G>A) c.562G>A (p.Val188Ile) c.472G>A (p.Val158Ile) c.565G>A (p.Val189Ile) c.382-51706G>A (n.382-51706G>A) c.247G>A (p.Val83Ile) c.634G>A (p.Val212Ile) c.631G>A (p.Val211Ile) c.175G>A (p.Val59Ile) | |
10 | g.113089478G>C | CA378532751 | TCF7L2 | c.483+49352G>C (n.483+49352G>C) c.552+49352G>C (n.552+49352G>C) c.562G>C (p.Val188Leu) c.472G>C (p.Val158Leu) c.565G>C (p.Val189Leu) c.382-51706G>C (n.382-51706G>C) c.247G>C (p.Val83Leu) c.634G>C (p.Val212Leu) c.631G>C (p.Val211Leu) c.175G>C (p.Val59Leu) | |
10 | g.113089478G>T | CA378532752 | TCF7L2 | c.483+49352G>T (n.483+49352G>T) c.552+49352G>T (n.552+49352G>T) c.562G>T (p.Val188Phe) c.472G>T (p.Val158Phe) c.565G>T (p.Val189Phe) c.382-51706G>T (n.382-51706G>T) c.247G>T (p.Val83Phe) c.634G>T (p.Val212Phe) c.631G>T (p.Val211Phe) c.175G>T (p.Val59Phe) | |
10 | g.113089479T>A | CA378532753 | TCF7L2 | c.483+49353T>A (n.483+49353T>A) c.552+49353T>A (n.552+49353T>A) c.563T>A (p.Val188Asp) c.473T>A (p.Val158Asp) c.566T>A (p.Val189Asp) c.382-51705T>A (n.382-51705T>A) c.248T>A (p.Val83Asp) c.635T>A (p.Val212Asp) c.632T>A (p.Val211Asp) c.176T>A (p.Val59Asp) | |
10 | g.113089479T>C | CA378532755 | TCF7L2 | c.483+49353T>C (n.483+49353T>C) c.552+49353T>C (n.552+49353T>C) c.563T>C (p.Val188Ala) c.473T>C (p.Val158Ala) c.566T>C (p.Val189Ala) c.382-51705T>C (n.382-51705T>C) c.248T>C (p.Val83Ala) c.635T>C (p.Val212Ala) c.632T>C (p.Val211Ala) c.176T>C (p.Val59Ala) | |
10 | g.113089479T>G | CA378532754 | TCF7L2 | c.483+49353T>G (n.483+49353T>G) c.552+49353T>G (n.552+49353T>G) c.563T>G (p.Val188Gly) c.473T>G (p.Val158Gly) c.566T>G (p.Val189Gly) c.382-51705T>G (n.382-51705T>G) c.248T>G (p.Val83Gly) c.635T>G (p.Val212Gly) c.632T>G (p.Val211Gly) c.176T>G (p.Val59Gly) | |
10 | g.113089480C= | CA1937197455 | TCF7L2 | c.483+49354C= (n.483+49354C=) c.552+49354C= (n.552+49354C=) c.564C= (p.Val188=) c.474C= (p.Val158=) c.567C= (p.Val189=) c.382-51704C= (n.382-51704C=) c.249C= (p.Val83=) c.636C= (p.Val212=) c.633C= (p.Val211=) c.177C= (p.Val59=) | |
10 | g.113089481T>A | CA378532756 | TCF7L2 | c.483+49355T>A (n.483+49355T>A) c.552+49355T>A (n.552+49355T>A) c.565T>A (p.Phe189Ile) c.475T>A (p.Phe159Ile) c.568T>A (p.Phe190Ile) c.382-51703T>A (n.382-51703T>A) c.250T>A (p.Phe84Ile) c.637T>A (p.Phe213Ile) c.634T>A (p.Phe212Ile) c.178T>A (p.Phe60Ile) | |
10 | g.113089481T>C | CA378532758 | TCF7L2 | c.483+49355T>C (n.483+49355T>C) c.552+49355T>C (n.552+49355T>C) c.565T>C (p.Phe189Leu) c.475T>C (p.Phe159Leu) c.568T>C (p.Phe190Leu) c.382-51703T>C (n.382-51703T>C) c.250T>C (p.Phe84Leu) c.637T>C (p.Phe213Leu) c.634T>C (p.Phe212Leu) c.178T>C (p.Phe60Leu) | |
10 | g.113089481T>G | CA378532757 | TCF7L2 | c.483+49355T>G (n.483+49355T>G) c.552+49355T>G (n.552+49355T>G) c.565T>G (p.Phe189Val) c.475T>G (p.Phe159Val) c.568T>G (p.Phe190Val) c.382-51703T>G (n.382-51703T>G) c.250T>G (p.Phe84Val) c.637T>G (p.Phe213Val) c.634T>G (p.Phe212Val) c.178T>G (p.Phe60Val) | |
10 | g.113089482dup | CA1937197456 | TCF7L2 | c.483+49356dup (n.483+49356dup) c.552+49356dup (n.552+49356dup) c.566dup (p.Arg190GlnfsTer19) c.476dup (p.Arg160GlnfsTer19) c.569dup (p.Arg191GlnfsTer19) c.382-51702dup (n.382-51702dup) c.251dup (p.Arg85GlnfsTer19) c.638dup (p.Arg214GlnfsTer19) c.635dup (p.Arg213GlnfsTer19) c.179dup (p.Arg61GlnfsTer19) | dbSNP |
10 | g.113089482T>A | CA378532759 | TCF7L2 | c.483+49356T>A (n.483+49356T>A) c.552+49356T>A (n.552+49356T>A) c.566T>A (p.Phe189Tyr) c.476T>A (p.Phe159Tyr) c.569T>A (p.Phe190Tyr) c.382-51702T>A (n.382-51702T>A) c.251T>A (p.Phe84Tyr) c.638T>A (p.Phe213Tyr) c.635T>A (p.Phe212Tyr) c.179T>A (p.Phe60Tyr) | |
10 | g.113089482T>C | CA378532760 | TCF7L2 | c.483+49356T>C (n.483+49356T>C) c.552+49356T>C (n.552+49356T>C) c.566T>C (p.Phe189Ser) c.476T>C (p.Phe159Ser) c.569T>C (p.Phe190Ser) c.382-51702T>C (n.382-51702T>C) c.251T>C (p.Phe84Ser) c.638T>C (p.Phe213Ser) c.635T>C (p.Phe212Ser) c.179T>C (p.Phe60Ser) | |
10 | g.113089482T>G | CA378532761 | TCF7L2 | c.483+49356T>G (n.483+49356T>G) c.552+49356T>G (n.552+49356T>G) c.566T>G (p.Phe189Cys) c.476T>G (p.Phe159Cys) c.569T>G (p.Phe190Cys) c.382-51702T>G (n.382-51702T>G) c.251T>G (p.Phe84Cys) c.638T>G (p.Phe213Cys) c.635T>G (p.Phe212Cys) c.179T>G (p.Phe60Cys) | |
10 | g.113089483C>A | CA378532762 | TCF7L2 | c.483+49357C>A (n.483+49357C>A) c.552+49357C>A (n.552+49357C>A) c.567C>A (p.Phe189Leu) c.477C>A (p.Phe159Leu) c.570C>A (p.Phe190Leu) c.382-51701C>A (n.382-51701C>A) c.252C>A (p.Phe84Leu) c.639C>A (p.Phe213Leu) c.636C>A (p.Phe212Leu) c.180C>A (p.Phe60Leu) | |
10 | g.113089483C= | CA1937197457 | TCF7L2 | c.483+49357C= (n.483+49357C=) c.552+49357C= (n.552+49357C=) c.567C= (p.Phe189=) c.477C= (p.Phe159=) c.570C= (p.Phe190=) c.382-51701C= (n.382-51701C=) c.252C= (p.Phe84=) c.639C= (p.Phe213=) c.636C= (p.Phe212=) c.180C= (p.Phe60=) | |
10 | g.113089483C>G | CA378532763 | TCF7L2 | c.483+49357C>G (n.483+49357C>G) c.552+49357C>G (n.552+49357C>G) c.567C>G (p.Phe189Leu) c.477C>G (p.Phe159Leu) c.570C>G (p.Phe190Leu) c.382-51701C>G (n.382-51701C>G) c.252C>G (p.Phe84Leu) c.639C>G (p.Phe213Leu) c.636C>G (p.Phe212Leu) c.180C>G (p.Phe60Leu) | |
10 | g.113089483C>T | CA596094326 | TCF7L2 | c.483+49357C>T (n.483+49357C>T) c.552+49357C>T (n.552+49357C>T) c.567C>T (p.Phe189=) c.477C>T (p.Phe159=) c.570C>T (p.Phe190=) c.382-51701C>T (n.382-51701C>T) c.252C>T (p.Phe84=) c.639C>T (p.Phe213=) c.636C>T (p.Phe212=) c.180C>T (p.Phe60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.113089484A>G | CA378532764 | TCF7L2 | c.483+49358A>G (n.483+49358A>G) c.552+49358A>G (n.552+49358A>G) c.568A>G (p.Arg190Gly) c.478A>G (p.Arg160Gly) c.571A>G (p.Arg191Gly) c.382-51700A>G (n.382-51700A>G) c.253A>G (p.Arg85Gly) c.640A>G (p.Arg214Gly) c.637A>G (p.Arg213Gly) c.181A>G (p.Arg61Gly) | |
10 | g.113089484A>T | CA378532765 | TCF7L2 | c.483+49358A>T (n.483+49358A>T) c.552+49358A>T (n.552+49358A>T) c.568A>T (p.Arg190Trp) c.478A>T (p.Arg160Trp) c.571A>T (p.Arg191Trp) c.382-51700A>T (n.382-51700A>T) c.253A>T (p.Arg85Trp) c.640A>T (p.Arg214Trp) c.637A>T (p.Arg213Trp) c.181A>T (p.Arg61Trp) | |
10 | g.113089485G>A | CA378532766 | TCF7L2 | c.483+49359G>A (n.483+49359G>A) c.552+49359G>A (n.552+49359G>A) c.569G>A (p.Arg190Lys) c.479G>A (p.Arg160Lys) c.572G>A (p.Arg191Lys) c.382-51699G>A (n.382-51699G>A) c.254G>A (p.Arg85Lys) c.641G>A (p.Arg214Lys) c.638G>A (p.Arg213Lys) c.182G>A (p.Arg61Lys) | |
10 | g.113089485G>C | CA378532767 | TCF7L2 | c.483+49359G>C (n.483+49359G>C) c.552+49359G>C (n.552+49359G>C) c.569G>C (p.Arg190Thr) c.479G>C (p.Arg160Thr) c.572G>C (p.Arg191Thr) c.382-51699G>C (n.382-51699G>C) c.254G>C (p.Arg85Thr) c.641G>C (p.Arg214Thr) c.638G>C (p.Arg213Thr) c.182G>C (p.Arg61Thr) | |
10 | g.113089485G>T | CA378532768 | TCF7L2 | c.483+49359G>T (n.483+49359G>T) c.552+49359G>T (n.552+49359G>T) c.569G>T (p.Arg190Met) c.479G>T (p.Arg160Met) c.572G>T (p.Arg191Met) c.382-51699G>T (n.382-51699G>T) c.254G>T (p.Arg85Met) c.641G>T (p.Arg214Met) c.638G>T (p.Arg213Met) c.182G>T (p.Arg61Met) | COSMIC |
10 | g.113089486G>C | CA378532769 | TCF7L2 | c.483+49360G>C (n.483+49360G>C) c.552+49360G>C (n.552+49360G>C) c.570G>C (p.Arg190Ser) c.480G>C (p.Arg160Ser) c.573G>C (p.Arg191Ser) c.382-51698G>C (n.382-51698G>C) c.255G>C (p.Arg85Ser) c.642G>C (p.Arg214Ser) c.639G>C (p.Arg213Ser) c.183G>C (p.Arg61Ser) | gnomAD v4 |
10 | g.113089486G>T | CA378532770 | TCF7L2 | c.483+49360G>T (n.483+49360G>T) c.552+49360G>T (n.552+49360G>T) c.570G>T (p.Arg190Ser) c.480G>T (p.Arg160Ser) c.573G>T (p.Arg191Ser) c.382-51698G>T (n.382-51698G>T) c.255G>T (p.Arg85Ser) c.642G>T (p.Arg214Ser) c.639G>T (p.Arg213Ser) c.183G>T (p.Arg61Ser) | |
10 | g.113089487G>A | CA378532773 | TCF7L2 | c.483+49361G>A (n.483+49361G>A) c.552+49361G>A (n.552+49361G>A) c.571G>A (p.Asp191Asn) c.481G>A (p.Asp161Asn) c.574G>A (p.Asp192Asn) c.382-51697G>A (n.382-51697G>A) c.256G>A (p.Asp86Asn) c.643G>A (p.Asp215Asn) c.640G>A (p.Asp214Asn) c.184G>A (p.Asp62Asn) | |
10 | g.113089487G>C | CA378532771 | TCF7L2 | c.483+49361G>C (n.483+49361G>C) c.552+49361G>C (n.552+49361G>C) c.571G>C (p.Asp191His) c.481G>C (p.Asp161His) c.574G>C (p.Asp192His) c.382-51697G>C (n.382-51697G>C) c.256G>C (p.Asp86His) c.643G>C (p.Asp215His) c.640G>C (p.Asp214His) c.184G>C (p.Asp62His) | gnomAD v4 |
10 | g.113089487G>T | CA378532772 | TCF7L2 | c.483+49361G>T (n.483+49361G>T) c.552+49361G>T (n.552+49361G>T) c.571G>T (p.Asp191Tyr) c.481G>T (p.Asp161Tyr) c.574G>T (p.Asp192Tyr) c.382-51697G>T (n.382-51697G>T) c.256G>T (p.Asp86Tyr) c.643G>T (p.Asp215Tyr) c.640G>T (p.Asp214Tyr) c.184G>T (p.Asp62Tyr) | |
10 | g.113089488A= | CA1937197458 | TCF7L2 | c.483+49362A= (n.483+49362A=) c.552+49362A= (n.552+49362A=) c.572A= (p.Asp191=) c.482A= (p.Asp161=) c.575A= (p.Asp192=) c.382-51696A= (n.382-51696A=) c.257A= (p.Asp86=) c.644A= (p.Asp215=) c.641A= (p.Asp214=) c.185A= (p.Asp62=) | |
10 | g.113089488A>C | CA378532774 | TCF7L2 | c.483+49362A>C (n.483+49362A>C) c.552+49362A>C (n.552+49362A>C) c.572A>C (p.Asp191Ala) c.482A>C (p.Asp161Ala) c.575A>C (p.Asp192Ala) c.382-51696A>C (n.382-51696A>C) c.257A>C (p.Asp86Ala) c.644A>C (p.Asp215Ala) c.641A>C (p.Asp214Ala) c.185A>C (p.Asp62Ala) | |
10 | g.113089488A>G | CA5692906 | TCF7L2 | c.483+49362A>G (n.483+49362A>G) c.552+49362A>G (n.552+49362A>G) c.572A>G (p.Asp191Gly) c.482A>G (p.Asp161Gly) c.575A>G (p.Asp192Gly) c.382-51696A>G (n.382-51696A>G) c.257A>G (p.Asp86Gly) c.644A>G (p.Asp215Gly) c.641A>G (p.Asp214Gly) c.185A>G (p.Asp62Gly) | dbSNP ExAC gnomAD v2 |
10 | g.113089488A>T | CA378532775 | TCF7L2 | c.483+49362A>T (n.483+49362A>T) c.552+49362A>T (n.552+49362A>T) c.572A>T (p.Asp191Val) c.482A>T (p.Asp161Val) c.575A>T (p.Asp192Val) c.382-51696A>T (n.382-51696A>T) c.257A>T (p.Asp86Val) c.644A>T (p.Asp215Val) c.641A>T (p.Asp214Val) c.185A>T (p.Asp62Val) | dbSNP |
10 | g.113089489C>A | CA5692907 | TCF7L2 | c.483+49363C>A (n.483+49363C>A) c.552+49363C>A (n.552+49363C>A) c.573C>A (p.Asp191Glu) c.483C>A (p.Asp161Glu) c.576C>A (p.Asp192Glu) c.382-51695C>A (n.382-51695C>A) c.258C>A (p.Asp86Glu) c.645C>A (p.Asp215Glu) c.642C>A (p.Asp214Glu) c.186C>A (p.Asp62Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089489C= | CA1937197459 | TCF7L2 | c.483+49363C= (n.483+49363C=) c.552+49363C= (n.552+49363C=) c.573C= (p.Asp191=) c.483C= (p.Asp161=) c.576C= (p.Asp192=) c.382-51695C= (n.382-51695C=) c.258C= (p.Asp86=) c.645C= (p.Asp215=) c.642C= (p.Asp214=) c.186C= (p.Asp62=) | |
10 | g.113089489C>G | CA378532776 | TCF7L2 | c.483+49363C>G (n.483+49363C>G) c.552+49363C>G (n.552+49363C>G) c.573C>G (p.Asp191Glu) c.483C>G (p.Asp161Glu) c.576C>G (p.Asp192Glu) c.382-51695C>G (n.382-51695C>G) c.258C>G (p.Asp86Glu) c.645C>G (p.Asp215Glu) c.642C>G (p.Asp214Glu) c.186C>G (p.Asp62Glu) | |
10 | g.113089489C>T | CA2789527754 | TCF7L2 | c.483+49363C>T (n.483+49363C>T) c.552+49363C>T (n.552+49363C>T) c.573C>T (p.Asp191=) c.483C>T (p.Asp161=) c.576C>T (p.Asp192=) c.382-51695C>T (n.382-51695C>T) c.258C>T (p.Asp86=) c.645C>T (p.Asp215=) c.642C>T (p.Asp214=) c.186C>T (p.Asp62=) | |
10 | g.113089490A= | CA1937197460 | TCF7L2 | c.483+49364A= (n.483+49364A=) c.552+49364A= (n.552+49364A=) c.574A= (p.Met192=) c.484A= (p.Met162=) c.577A= (p.Met193=) c.382-51694A= (n.382-51694A=) c.259A= (p.Met87=) c.646A= (p.Met216=) c.643A= (p.Met215=) c.187A= (p.Met63=) | |
10 | g.113089490A>C | CA378532777 | TCF7L2 | c.483+49364A>C (n.483+49364A>C) c.552+49364A>C (n.552+49364A>C) c.574A>C (p.Met192Leu) c.484A>C (p.Met162Leu) c.577A>C (p.Met193Leu) c.382-51694A>C (n.382-51694A>C) c.259A>C (p.Met87Leu) c.646A>C (p.Met216Leu) c.643A>C (p.Met215Leu) c.187A>C (p.Met63Leu) | |
10 | g.113089490A>G | CA378532778 | TCF7L2 | c.483+49364A>G (n.483+49364A>G) c.552+49364A>G (n.552+49364A>G) c.574A>G (p.Met192Val) c.484A>G (p.Met162Val) c.577A>G (p.Met193Val) c.382-51694A>G (n.382-51694A>G) c.259A>G (p.Met87Val) c.646A>G (p.Met216Val) c.643A>G (p.Met215Val) c.187A>G (p.Met63Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089490A>T | CA378532779 | TCF7L2 | c.483+49364A>T (n.483+49364A>T) c.552+49364A>T (n.552+49364A>T) c.574A>T (p.Met192Leu) c.484A>T (p.Met162Leu) c.577A>T (p.Met193Leu) c.382-51694A>T (n.382-51694A>T) c.259A>T (p.Met87Leu) c.646A>T (p.Met216Leu) c.643A>T (p.Met215Leu) c.187A>T (p.Met63Leu) | gnomAD v4 |
10 | g.113089491T>A | CA378532780 | TCF7L2 | c.483+49365T>A (n.483+49365T>A) c.552+49365T>A (n.552+49365T>A) c.575T>A (p.Met192Lys) c.485T>A (p.Met162Lys) c.578T>A (p.Met193Lys) c.382-51693T>A (n.382-51693T>A) c.260T>A (p.Met87Lys) c.647T>A (p.Met216Lys) c.644T>A (p.Met215Lys) c.188T>A (p.Met63Lys) | |
10 | g.113089491T>C | CA378532781 | TCF7L2 | c.483+49365T>C (n.483+49365T>C) c.552+49365T>C (n.552+49365T>C) c.575T>C (p.Met192Thr) c.485T>C (p.Met162Thr) c.578T>C (p.Met193Thr) c.382-51693T>C (n.382-51693T>C) c.260T>C (p.Met87Thr) c.647T>C (p.Met216Thr) c.644T>C (p.Met215Thr) c.188T>C (p.Met63Thr) | gnomAD v4 |
10 | g.113089491T>G | CA378532782 | TCF7L2 | c.483+49365T>G (n.483+49365T>G) c.552+49365T>G (n.552+49365T>G) c.575T>G (p.Met192Arg) c.485T>G (p.Met162Arg) c.578T>G (p.Met193Arg) c.382-51693T>G (n.382-51693T>G) c.260T>G (p.Met87Arg) c.647T>G (p.Met216Arg) c.644T>G (p.Met215Arg) c.188T>G (p.Met63Arg) | |
10 | g.113089492G>A | CA5692908 | TCF7L2 | c.483+49366G>A (n.483+49366G>A) c.552+49366G>A (n.552+49366G>A) c.576G>A (p.Met192Ile) c.486G>A (p.Met162Ile) c.579G>A (p.Met193Ile) c.382-51692G>A (n.382-51692G>A) c.261G>A (p.Met87Ile) c.648G>A (p.Met216Ile) c.645G>A (p.Met215Ile) c.189G>A (p.Met63Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089492G>C | CA378532784 | TCF7L2 | c.483+49366G>C (n.483+49366G>C) c.552+49366G>C (n.552+49366G>C) c.576G>C (p.Met192Ile) c.486G>C (p.Met162Ile) c.579G>C (p.Met193Ile) c.382-51692G>C (n.382-51692G>C) c.261G>C (p.Met87Ile) c.648G>C (p.Met216Ile) c.645G>C (p.Met215Ile) c.189G>C (p.Met63Ile) | |
10 | g.113089492G= | CA1937197461 | TCF7L2 | c.483+49366G= (n.483+49366G=) c.552+49366G= (n.552+49366G=) c.576G= (p.Met192=) c.486G= (p.Met162=) c.579G= (p.Met193=) c.382-51692G= (n.382-51692G=) c.261G= (p.Met87=) c.648G= (p.Met216=) c.645G= (p.Met215=) c.189G= (p.Met63=) | |
10 | g.113089492G>T | CA378532783 | TCF7L2 | c.483+49366G>T (n.483+49366G>T) c.552+49366G>T (n.552+49366G>T) c.576G>T (p.Met192Ile) c.486G>T (p.Met162Ile) c.579G>T (p.Met193Ile) c.382-51692G>T (n.382-51692G>T) c.261G>T (p.Met87Ile) c.648G>T (p.Met216Ile) c.645G>T (p.Met215Ile) c.189G>T (p.Met63Ile) | gnomAD v4 |
10 | g.113089492_113089512delinsGAAAAGGAGCCACTCCTTACA | CA1937197462 | TCF7L2 | c.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA (n.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA) c.552+49366_552+49386delinsGAAAAGGAGCCACTCCTTACA (n.552+49366_552+49386delinsGAAAAGGAGCCACTCCTTACA) c.576_596delinsGAAAAGGAGCCACTCCTTACA (p.Met192=) c.486_506delinsGAAAAGGAGCCACTCCTTACA (p.Met162=) c.579_599delinsGAAAAGGAGCCACTCCTTACA (p.Met193=) c.382-51692_382-51672delinsGAAAAGGAGCCACTCCTTACA (n.382-51692_382-51672delinsGAAAAGGAGCCACTCCTTACA) c.261_281delinsGAAAAGGAGCCACTCCTTACA (p.Met87=) c.648_668delinsGAAAAGGAGCCACTCCTTACA (p.Met216=) c.645_665delinsGAAAAGGAGCCACTCCTTACA (p.Met215=) c.189_209delinsGAAAAGGAGCCACTCCTTACA (p.Met63=) | |
10 | g.113089493A>C | CA378532785 | TCF7L2 | c.483+49367A>C (n.483+49367A>C) c.552+49367A>C (n.552+49367A>C) c.577A>C (p.Lys193Gln) c.487A>C (p.Lys163Gln) c.580A>C (p.Lys194Gln) c.382-51691A>C (n.382-51691A>C) c.262A>C (p.Lys88Gln) c.649A>C (p.Lys217Gln) c.646A>C (p.Lys216Gln) c.190A>C (p.Lys64Gln) | |
10 | g.113089493A>G | CA378532786 | TCF7L2 | c.483+49367A>G (n.483+49367A>G) c.552+49367A>G (n.552+49367A>G) c.577A>G (p.Lys193Glu) c.487A>G (p.Lys163Glu) c.580A>G (p.Lys194Glu) c.382-51691A>G (n.382-51691A>G) c.262A>G (p.Lys88Glu) c.649A>G (p.Lys217Glu) c.646A>G (p.Lys216Glu) c.190A>G (p.Lys64Glu) | |
10 | g.113089493A>T | CA378532787 | TCF7L2 | c.483+49367A>T (n.483+49367A>T) c.552+49367A>T (n.552+49367A>T) c.577A>T (p.Lys193Ter) c.487A>T (p.Lys163Ter) c.580A>T (p.Lys194Ter) c.382-51691A>T (n.382-51691A>T) c.262A>T (p.Lys88Ter) c.649A>T (p.Lys217Ter) c.646A>T (p.Lys216Ter) c.190A>T (p.Lys64Ter) | gnomAD v4 |
10 | g.113089498_113089517del | CA5692909 | TCF7L2 | c.483+49372_483+49391del (n.483+49372_483+49391del) c.552+49372_552+49391del (n.552+49372_552+49391del) c.582_601del (p.Arg194SerfsTer8) c.492_511del (p.Arg164SerfsTer8) c.585_604del (p.Arg195SerfsTer8) c.382-51686_382-51667del (n.382-51686_382-51667del) c.267_286del (p.Arg89SerfsTer8) c.654_673del (p.Arg218SerfsTer8) c.651_670del (p.Arg217SerfsTer8) c.195_214del (p.Arg65SerfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089494A>C | CA378532788 | TCF7L2 | c.483+49368A>C (n.483+49368A>C) c.552+49368A>C (n.552+49368A>C) c.578A>C (p.Lys193Thr) c.488A>C (p.Lys163Thr) c.581A>C (p.Lys194Thr) c.382-51690A>C (n.382-51690A>C) c.263A>C (p.Lys88Thr) c.650A>C (p.Lys217Thr) c.647A>C (p.Lys216Thr) c.191A>C (p.Lys64Thr) | |
10 | g.113089494A>G | CA378532789 | TCF7L2 | c.483+49368A>G (n.483+49368A>G) c.552+49368A>G (n.552+49368A>G) c.578A>G (p.Lys193Arg) c.488A>G (p.Lys163Arg) c.581A>G (p.Lys194Arg) c.382-51690A>G (n.382-51690A>G) c.263A>G (p.Lys88Arg) c.650A>G (p.Lys217Arg) c.647A>G (p.Lys216Arg) c.191A>G (p.Lys64Arg) | gnomAD v4 |
10 | g.113089494A>T | CA378532790 | TCF7L2 | c.483+49368A>T (n.483+49368A>T) c.552+49368A>T (n.552+49368A>T) c.578A>T (p.Lys193Ile) c.488A>T (p.Lys163Ile) c.581A>T (p.Lys194Ile) c.382-51690A>T (n.382-51690A>T) c.263A>T (p.Lys88Ile) c.650A>T (p.Lys217Ile) c.647A>T (p.Lys216Ile) c.191A>T (p.Lys64Ile) | |
10 | g.113089495A>C | CA378532791 | TCF7L2 | c.483+49369A>C (n.483+49369A>C) c.552+49369A>C (n.552+49369A>C) c.579A>C (p.Lys193Asn) c.489A>C (p.Lys163Asn) c.582A>C (p.Lys194Asn) c.382-51689A>C (n.382-51689A>C) c.264A>C (p.Lys88Asn) c.651A>C (p.Lys217Asn) c.648A>C (p.Lys216Asn) c.192A>C (p.Lys64Asn) | |
10 | g.113089495A>T | CA378532792 | TCF7L2 | c.483+49369A>T (n.483+49369A>T) c.552+49369A>T (n.552+49369A>T) c.579A>T (p.Lys193Asn) c.489A>T (p.Lys163Asn) c.582A>T (p.Lys194Asn) c.382-51689A>T (n.382-51689A>T) c.264A>T (p.Lys88Asn) c.651A>T (p.Lys217Asn) c.648A>T (p.Lys216Asn) c.192A>T (p.Lys64Asn) | |
10 | g.113089496A= | CA1937197463 | TCF7L2 | c.483+49370A= (n.483+49370A=) c.552+49370A= (n.552+49370A=) c.580A= (p.Arg194=) c.490A= (p.Arg164=) c.583A= (p.Arg195=) c.382-51688A= (n.382-51688A=) c.265A= (p.Arg89=) c.652A= (p.Arg218=) c.649A= (p.Arg217=) c.193A= (p.Arg65=) | |
10 | g.113089496A>G | CA5692910 | TCF7L2 | c.483+49370A>G (n.483+49370A>G) c.552+49370A>G (n.552+49370A>G) c.580A>G (p.Arg194Gly) c.490A>G (p.Arg164Gly) c.583A>G (p.Arg195Gly) c.382-51688A>G (n.382-51688A>G) c.265A>G (p.Arg89Gly) c.652A>G (p.Arg218Gly) c.649A>G (p.Arg217Gly) c.193A>G (p.Arg65Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089496A>T | CA378532793 | TCF7L2 | c.483+49370A>T (n.483+49370A>T) c.552+49370A>T (n.552+49370A>T) c.580A>T (p.Arg194Trp) c.490A>T (p.Arg164Trp) c.583A>T (p.Arg195Trp) c.382-51688A>T (n.382-51688A>T) c.265A>T (p.Arg89Trp) c.652A>T (p.Arg218Trp) c.649A>T (p.Arg217Trp) c.193A>T (p.Arg65Trp) | |
10 | g.113089497G>A | CA378532794 | TCF7L2 | c.483+49371G>A (n.483+49371G>A) c.552+49371G>A (n.552+49371G>A) c.581G>A (p.Arg194Lys) c.491G>A (p.Arg164Lys) c.584G>A (p.Arg195Lys) c.382-51687G>A (n.382-51687G>A) c.266G>A (p.Arg89Lys) c.653G>A (p.Arg218Lys) c.650G>A (p.Arg217Lys) c.194G>A (p.Arg65Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.113089497G>C | CA378532795 | TCF7L2 | c.483+49371G>C (n.483+49371G>C) c.552+49371G>C (n.552+49371G>C) c.581G>C (p.Arg194Thr) c.491G>C (p.Arg164Thr) c.584G>C (p.Arg195Thr) c.382-51687G>C (n.382-51687G>C) c.266G>C (p.Arg89Thr) c.653G>C (p.Arg218Thr) c.650G>C (p.Arg217Thr) c.194G>C (p.Arg65Thr) | |
10 | g.113089497G= | CA1937197464 | TCF7L2 | c.483+49371G= (n.483+49371G=) c.552+49371G= (n.552+49371G=) c.581G= (p.Arg194=) c.491G= (p.Arg164=) c.584G= (p.Arg195=) c.382-51687G= (n.382-51687G=) c.266G= (p.Arg89=) c.653G= (p.Arg218=) c.650G= (p.Arg217=) c.194G= (p.Arg65=) | |
10 | g.113089497G>T | CA378532796 | TCF7L2 | c.483+49371G>T (n.483+49371G>T) c.552+49371G>T (n.552+49371G>T) c.581G>T (p.Arg194Met) c.491G>T (p.Arg164Met) c.584G>T (p.Arg195Met) c.382-51687G>T (n.382-51687G>T) c.266G>T (p.Arg89Met) c.653G>T (p.Arg218Met) c.650G>T (p.Arg217Met) c.194G>T (p.Arg65Met) |