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