| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) |