Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
10 | g.113089498G>A | CA2610944504 | TCF7L2 | c.483+49372G>A (n.483+49372G>A) c.552+49372G>A (n.552+49372G>A) c.582G>A (p.Arg194=) c.492G>A (p.Arg164=) c.585G>A (p.Arg195=) c.382-51686G>A (n.382-51686G>A) c.267G>A (p.Arg89=) c.654G>A (p.Arg218=) c.651G>A (p.Arg217=) c.195G>A (p.Arg65=) | gnomAD v4 |
10 | g.113089498G>C | CA378532797 | TCF7L2 | c.483+49372G>C (n.483+49372G>C) c.552+49372G>C (n.552+49372G>C) c.582G>C (p.Arg194Ser) c.492G>C (p.Arg164Ser) c.585G>C (p.Arg195Ser) c.382-51686G>C (n.382-51686G>C) c.267G>C (p.Arg89Ser) c.654G>C (p.Arg218Ser) c.651G>C (p.Arg217Ser) c.195G>C (p.Arg65Ser) | |
10 | g.113089498G>T | CA378532798 | TCF7L2 | c.483+49372G>T (n.483+49372G>T) c.552+49372G>T (n.552+49372G>T) c.582G>T (p.Arg194Ser) c.492G>T (p.Arg164Ser) c.585G>T (p.Arg195Ser) c.382-51686G>T (n.382-51686G>T) c.267G>T (p.Arg89Ser) c.654G>T (p.Arg218Ser) c.651G>T (p.Arg217Ser) c.195G>T (p.Arg65Ser) | |
10 | g.113089499A>C | CA378532799 | TCF7L2 | c.483+49373A>C (n.483+49373A>C) c.552+49373A>C (n.552+49373A>C) c.583A>C (p.Ser195Arg) c.493A>C (p.Ser165Arg) c.586A>C (p.Ser196Arg) c.382-51685A>C (n.382-51685A>C) c.268A>C (p.Ser90Arg) c.655A>C (p.Ser219Arg) c.652A>C (p.Ser218Arg) c.196A>C (p.Ser66Arg) | |
10 | g.113089499A>G | CA378532800 | TCF7L2 | c.483+49373A>G (n.483+49373A>G) c.552+49373A>G (n.552+49373A>G) c.583A>G (p.Ser195Gly) c.493A>G (p.Ser165Gly) c.586A>G (p.Ser196Gly) c.382-51685A>G (n.382-51685A>G) c.268A>G (p.Ser90Gly) c.655A>G (p.Ser219Gly) c.652A>G (p.Ser218Gly) c.196A>G (p.Ser66Gly) | |
10 | g.113089499A>T | CA378532801 | TCF7L2 | c.483+49373A>T (n.483+49373A>T) c.552+49373A>T (n.552+49373A>T) c.583A>T (p.Ser195Cys) c.493A>T (p.Ser165Cys) c.586A>T (p.Ser196Cys) c.382-51685A>T (n.382-51685A>T) c.268A>T (p.Ser90Cys) c.655A>T (p.Ser219Cys) c.652A>T (p.Ser218Cys) c.196A>T (p.Ser66Cys) | |
10 | g.113089500G>A | CA378532802 | TCF7L2 | c.483+49374G>A (n.483+49374G>A) c.552+49374G>A (n.552+49374G>A) c.584G>A (p.Ser195Asn) c.494G>A (p.Ser165Asn) c.587G>A (p.Ser196Asn) c.382-51684G>A (n.382-51684G>A) c.269G>A (p.Ser90Asn) c.656G>A (p.Ser219Asn) c.653G>A (p.Ser218Asn) c.197G>A (p.Ser66Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089500G>C | CA378532803 | TCF7L2 | c.483+49374G>C (n.483+49374G>C) c.552+49374G>C (n.552+49374G>C) c.584G>C (p.Ser195Thr) c.494G>C (p.Ser165Thr) c.587G>C (p.Ser196Thr) c.382-51684G>C (n.382-51684G>C) c.269G>C (p.Ser90Thr) c.656G>C (p.Ser219Thr) c.653G>C (p.Ser218Thr) c.197G>C (p.Ser66Thr) | |
10 | g.113089500G= | CA1937197465 | TCF7L2 | c.483+49374G= (n.483+49374G=) c.552+49374G= (n.552+49374G=) c.584G= (p.Ser195=) c.494G= (p.Ser165=) c.587G= (p.Ser196=) c.382-51684G= (n.382-51684G=) c.269G= (p.Ser90=) c.656G= (p.Ser219=) c.653G= (p.Ser218=) c.197G= (p.Ser66=) | |
10 | g.113089500G>T | CA378532804 | TCF7L2 | c.483+49374G>T (n.483+49374G>T) c.552+49374G>T (n.552+49374G>T) c.584G>T (p.Ser195Ile) c.494G>T (p.Ser165Ile) c.587G>T (p.Ser196Ile) c.382-51684G>T (n.382-51684G>T) c.269G>T (p.Ser90Ile) c.656G>T (p.Ser219Ile) c.653G>T (p.Ser218Ile) c.197G>T (p.Ser66Ile) | dbSNP |
10 | g.113089501C>A | CA378532805 | TCF7L2 | c.483+49375C>A (n.483+49375C>A) c.552+49375C>A (n.552+49375C>A) c.585C>A (p.Ser195Arg) c.495C>A (p.Ser165Arg) c.588C>A (p.Ser196Arg) c.382-51683C>A (n.382-51683C>A) c.270C>A (p.Ser90Arg) c.657C>A (p.Ser219Arg) c.654C>A (p.Ser218Arg) c.198C>A (p.Ser66Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089501C= | CA1937197466 | TCF7L2 | c.483+49375C= (n.483+49375C=) c.552+49375C= (n.552+49375C=) c.585C= (p.Ser195=) c.495C= (p.Ser165=) c.588C= (p.Ser196=) c.382-51683C= (n.382-51683C=) c.270C= (p.Ser90=) c.657C= (p.Ser219=) c.654C= (p.Ser218=) c.198C= (p.Ser66=) | |
10 | g.113089501C>G | CA378532806 | TCF7L2 | c.483+49375C>G (n.483+49375C>G) c.552+49375C>G (n.552+49375C>G) c.585C>G (p.Ser195Arg) c.495C>G (p.Ser165Arg) c.588C>G (p.Ser196Arg) c.382-51683C>G (n.382-51683C>G) c.270C>G (p.Ser90Arg) c.657C>G (p.Ser219Arg) c.654C>G (p.Ser218Arg) c.198C>G (p.Ser66Arg) | |
10 | g.113089502C>A | CA378532807 | TCF7L2 | c.483+49376C>A (n.483+49376C>A) c.552+49376C>A (n.552+49376C>A) c.586C>A (p.His196Asn) c.496C>A (p.His166Asn) c.589C>A (p.His197Asn) c.382-51682C>A (n.382-51682C>A) c.271C>A (p.His91Asn) c.658C>A (p.His220Asn) c.655C>A (p.His219Asn) c.199C>A (p.His67Asn) | |
10 | g.113089502C= | CA1937197467 | TCF7L2 | c.483+49376C= (n.483+49376C=) c.552+49376C= (n.552+49376C=) c.586C= (p.His196=) c.496C= (p.His166=) c.589C= (p.His197=) c.382-51682C= (n.382-51682C=) c.271C= (p.His91=) c.658C= (p.His220=) c.655C= (p.His219=) c.199C= (p.His67=) | |
10 | g.113089502C>G | CA378532808 | TCF7L2 | c.483+49376C>G (n.483+49376C>G) c.552+49376C>G (n.552+49376C>G) c.586C>G (p.His196Asp) c.496C>G (p.His166Asp) c.589C>G (p.His197Asp) c.382-51682C>G (n.382-51682C>G) c.271C>G (p.His91Asp) c.658C>G (p.His220Asp) c.655C>G (p.His219Asp) c.199C>G (p.His67Asp) | |
10 | g.113089502C>T | CA378532809 | TCF7L2 | c.483+49376C>T (n.483+49376C>T) c.552+49376C>T (n.552+49376C>T) c.586C>T (p.His196Tyr) c.496C>T (p.His166Tyr) c.589C>T (p.His197Tyr) c.382-51682C>T (n.382-51682C>T) c.271C>T (p.His91Tyr) c.658C>T (p.His220Tyr) c.655C>T (p.His219Tyr) c.199C>T (p.His67Tyr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089503A>C | CA378532812 | TCF7L2 | c.483+49377A>C (n.483+49377A>C) c.552+49377A>C (n.552+49377A>C) c.587A>C (p.His196Pro) c.497A>C (p.His166Pro) c.590A>C (p.His197Pro) c.382-51681A>C (n.382-51681A>C) c.272A>C (p.His91Pro) c.659A>C (p.His220Pro) c.656A>C (p.His219Pro) c.200A>C (p.His67Pro) | |
10 | g.113089503A>G | CA378532811 | TCF7L2 | c.483+49377A>G (n.483+49377A>G) c.552+49377A>G (n.552+49377A>G) c.587A>G (p.His196Arg) c.497A>G (p.His166Arg) c.590A>G (p.His197Arg) c.382-51681A>G (n.382-51681A>G) c.272A>G (p.His91Arg) c.659A>G (p.His220Arg) c.656A>G (p.His219Arg) c.200A>G (p.His67Arg) | gnomAD v4 |
10 | g.113089503A>T | CA378532810 | TCF7L2 | c.483+49377A>T (n.483+49377A>T) c.552+49377A>T (n.552+49377A>T) c.587A>T (p.His196Leu) c.497A>T (p.His166Leu) c.590A>T (p.His197Leu) c.382-51681A>T (n.382-51681A>T) c.272A>T (p.His91Leu) c.659A>T (p.His220Leu) c.656A>T (p.His219Leu) c.200A>T (p.His67Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089504C>A | CA378532813 | TCF7L2 | c.483+49378C>A (n.483+49378C>A) c.552+49378C>A (n.552+49378C>A) c.588C>A (p.His196Gln) c.498C>A (p.His166Gln) c.591C>A (p.His197Gln) c.382-51680C>A (n.382-51680C>A) c.273C>A (p.His91Gln) c.660C>A (p.His220Gln) c.657C>A (p.His219Gln) c.201C>A (p.His67Gln) | |
10 | g.113089504C= | CA1937197468 | TCF7L2 | c.483+49378C= (n.483+49378C=) c.552+49378C= (n.552+49378C=) c.588C= (p.His196=) c.498C= (p.His166=) c.591C= (p.His197=) c.382-51680C= (n.382-51680C=) c.273C= (p.His91=) c.660C= (p.His220=) c.657C= (p.His219=) c.201C= (p.His67=) | |
10 | g.113089504C>G | CA378532814 | TCF7L2 | c.483+49378C>G (n.483+49378C>G) c.552+49378C>G (n.552+49378C>G) c.588C>G (p.His196Gln) c.498C>G (p.His166Gln) c.591C>G (p.His197Gln) c.382-51680C>G (n.382-51680C>G) c.273C>G (p.His91Gln) c.660C>G (p.His220Gln) c.657C>G (p.His219Gln) c.201C>G (p.His67Gln) | gnomAD v4 |
10 | g.113089504C>T | CA596094333 | TCF7L2 | c.483+49378C>T (n.483+49378C>T) c.552+49378C>T (n.552+49378C>T) c.588C>T (p.His196=) c.498C>T (p.His166=) c.591C>T (p.His197=) c.382-51680C>T (n.382-51680C>T) c.273C>T (p.His91=) c.660C>T (p.His220=) c.657C>T (p.His219=) c.201C>T (p.His67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089505T>A | CA378532815 | TCF7L2 | c.483+49379T>A (n.483+49379T>A) c.552+49379T>A (n.552+49379T>A) c.589T>A (p.Ser197Thr) c.499T>A (p.Ser167Thr) c.592T>A (p.Ser198Thr) c.382-51679T>A (n.382-51679T>A) c.274T>A (p.Ser92Thr) c.661T>A (p.Ser221Thr) c.658T>A (p.Ser220Thr) c.202T>A (p.Ser68Thr) | |
10 | g.113089505T>C | CA378532817 | TCF7L2 | c.483+49379T>C (n.483+49379T>C) c.552+49379T>C (n.552+49379T>C) c.589T>C (p.Ser197Pro) c.499T>C (p.Ser167Pro) c.592T>C (p.Ser198Pro) c.382-51679T>C (n.382-51679T>C) c.274T>C (p.Ser92Pro) c.661T>C (p.Ser221Pro) c.658T>C (p.Ser220Pro) c.202T>C (p.Ser68Pro) | |
10 | g.113089505T>G | CA378532816 | TCF7L2 | c.483+49379T>G (n.483+49379T>G) c.552+49379T>G (n.552+49379T>G) c.589T>G (p.Ser197Ala) c.499T>G (p.Ser167Ala) c.592T>G (p.Ser198Ala) c.382-51679T>G (n.382-51679T>G) c.274T>G (p.Ser92Ala) c.661T>G (p.Ser221Ala) c.658T>G (p.Ser220Ala) c.202T>G (p.Ser68Ala) | |
10 | g.113089506C>A | CA378532818 | TCF7L2 | c.483+49380C>A (n.483+49380C>A) c.552+49380C>A (n.552+49380C>A) c.590C>A (p.Ser197Tyr) c.500C>A (p.Ser167Tyr) c.593C>A (p.Ser198Tyr) c.382-51678C>A (n.382-51678C>A) c.275C>A (p.Ser92Tyr) c.662C>A (p.Ser221Tyr) c.659C>A (p.Ser220Tyr) c.203C>A (p.Ser68Tyr) | |
10 | g.113089506C>G | CA378532819 | TCF7L2 | c.483+49380C>G (n.483+49380C>G) c.552+49380C>G (n.552+49380C>G) c.590C>G (p.Ser197Cys) c.500C>G (p.Ser167Cys) c.593C>G (p.Ser198Cys) c.382-51678C>G (n.382-51678C>G) c.275C>G (p.Ser92Cys) c.662C>G (p.Ser221Cys) c.659C>G (p.Ser220Cys) c.203C>G (p.Ser68Cys) | |
10 | g.113089506C>T | CA378532820 | TCF7L2 | c.483+49380C>T (n.483+49380C>T) c.552+49380C>T (n.552+49380C>T) c.590C>T (p.Ser197Phe) c.500C>T (p.Ser167Phe) c.593C>T (p.Ser198Phe) c.382-51678C>T (n.382-51678C>T) c.275C>T (p.Ser92Phe) c.662C>T (p.Ser221Phe) c.659C>T (p.Ser220Phe) c.203C>T (p.Ser68Phe) | gnomAD v4 |
10 | g.113089507del | CA2574671141 | TCF7L2 | c.483+49381del (n.483+49381del) c.552+49381del (n.552+49381del) c.591del (p.Leu198TyrfsTer?) c.501del (p.Leu168TyrfsTer?) c.594del (p.Leu199TyrfsTer?) c.382-51677del (n.382-51677del) c.276del (p.Leu93TyrfsTer?) c.663del (p.Leu222TyrfsTer?) c.660del (p.Leu221TyrfsTer?) c.204del (p.Leu69TyrfsTer?) | |
10 | g.113089507C>G | CA2610944505 | TCF7L2 | c.483+49381C>G (n.483+49381C>G) c.552+49381C>G (n.552+49381C>G) c.591C>G (p.Ser197=) c.501C>G (p.Ser167=) c.594C>G (p.Ser198=) c.382-51677C>G (n.382-51677C>G) c.276C>G (p.Ser92=) c.663C>G (p.Ser221=) c.660C>G (p.Ser220=) c.204C>G (p.Ser68=) | gnomAD v4 |
10 | g.113089508T>A | CA378532821 | TCF7L2 | c.483+49382T>A (n.483+49382T>A) c.552+49382T>A (n.552+49382T>A) c.592T>A (p.Leu198Ile) c.502T>A (p.Leu168Ile) c.595T>A (p.Leu199Ile) c.382-51676T>A (n.382-51676T>A) c.277T>A (p.Leu93Ile) c.664T>A (p.Leu222Ile) c.661T>A (p.Leu221Ile) c.205T>A (p.Leu69Ile) | |
10 | g.113089508T>C | CA2574671142 | TCF7L2 | c.483+49382T>C (n.483+49382T>C) c.552+49382T>C (n.552+49382T>C) c.592T>C (p.Leu198=) c.502T>C (p.Leu168=) c.595T>C (p.Leu199=) c.382-51676T>C (n.382-51676T>C) c.277T>C (p.Leu93=) c.664T>C (p.Leu222=) c.661T>C (p.Leu221=) c.205T>C (p.Leu69=) | gnomAD v4 |
10 | g.113089508T>G | CA378532822 | TCF7L2 | c.483+49382T>G (n.483+49382T>G) c.552+49382T>G (n.552+49382T>G) c.592T>G (p.Leu198Val) c.502T>G (p.Leu168Val) c.595T>G (p.Leu199Val) c.382-51676T>G (n.382-51676T>G) c.277T>G (p.Leu93Val) c.664T>G (p.Leu222Val) c.661T>G (p.Leu221Val) c.205T>G (p.Leu69Val) | gnomAD v4 |
10 | g.113089509T>A | CA378532823 | TCF7L2 | c.483+49383T>A (n.483+49383T>A) c.552+49383T>A (n.552+49383T>A) c.593T>A (p.Leu198Ter) c.503T>A (p.Leu168Ter) c.596T>A (p.Leu199Ter) c.382-51675T>A (n.382-51675T>A) c.278T>A (p.Leu93Ter) c.665T>A (p.Leu222Ter) c.662T>A (p.Leu221Ter) c.206T>A (p.Leu69Ter) | |
10 | g.113089509T>C | CA378532824 | TCF7L2 | c.483+49383T>C (n.483+49383T>C) c.552+49383T>C (n.552+49383T>C) c.593T>C (p.Leu198Ser) c.503T>C (p.Leu168Ser) c.596T>C (p.Leu199Ser) c.382-51675T>C (n.382-51675T>C) c.278T>C (p.Leu93Ser) c.665T>C (p.Leu222Ser) c.662T>C (p.Leu221Ser) c.206T>C (p.Leu69Ser) | |
10 | g.113089509T>G | CA378532825 | TCF7L2 | c.483+49383T>G (n.483+49383T>G) c.552+49383T>G (n.552+49383T>G) c.593T>G (p.Leu198Ter) c.503T>G (p.Leu168Ter) c.596T>G (p.Leu199Ter) c.382-51675T>G (n.382-51675T>G) c.278T>G (p.Leu93Ter) c.665T>G (p.Leu222Ter) c.662T>G (p.Leu221Ter) c.206T>G (p.Leu69Ter) | |
10 | g.113089510A= | CA1937197469 | TCF7L2 | c.483+49384A= (n.483+49384A=) c.552+49384A= (n.552+49384A=) c.594A= (p.Leu198=) c.504A= (p.Leu168=) c.597A= (p.Leu199=) c.382-51674A= (n.382-51674A=) c.279A= (p.Leu93=) c.666A= (p.Leu222=) c.663A= (p.Leu221=) c.207A= (p.Leu69=) | |
10 | g.113089510A>C | CA378532826 | TCF7L2 | c.483+49384A>C (n.483+49384A>C) c.552+49384A>C (n.552+49384A>C) c.594A>C (p.Leu198Phe) c.504A>C (p.Leu168Phe) c.597A>C (p.Leu199Phe) c.382-51674A>C (n.382-51674A>C) c.279A>C (p.Leu93Phe) c.666A>C (p.Leu222Phe) c.663A>C (p.Leu221Phe) c.207A>C (p.Leu69Phe) | |
10 | g.113089510A>G | CA1937197470 | TCF7L2 | c.483+49384A>G (n.483+49384A>G) c.552+49384A>G (n.552+49384A>G) c.594A>G (p.Leu198=) c.504A>G (p.Leu168=) c.597A>G (p.Leu199=) c.382-51674A>G (n.382-51674A>G) c.279A>G (p.Leu93=) c.666A>G (p.Leu222=) c.663A>G (p.Leu221=) c.207A>G (p.Leu69=) | dbSNP gnomAD v4 |
10 | g.113089510A>T | CA378532827 | TCF7L2 | c.483+49384A>T (n.483+49384A>T) c.552+49384A>T (n.552+49384A>T) c.594A>T (p.Leu198Phe) c.504A>T (p.Leu168Phe) c.597A>T (p.Leu199Phe) c.382-51674A>T (n.382-51674A>T) c.279A>T (p.Leu93Phe) c.666A>T (p.Leu222Phe) c.663A>T (p.Leu221Phe) c.207A>T (p.Leu69Phe) | |
10 | g.113089510dup | CA2610944506 | TCF7L2 | c.483+49384dup (n.483+49384dup) c.552+49384dup (n.552+49384dup) c.594dup (p.Gln199ThrfsTer10) c.504dup (p.Gln169ThrfsTer10) c.597dup (p.Gln200ThrfsTer10) c.382-51674dup (n.382-51674dup) c.279dup (p.Gln94ThrfsTer10) c.666dup (p.Gln223ThrfsTer10) c.663dup (p.Gln222ThrfsTer10) c.207dup (p.Gln70ThrfsTer10) | gnomAD v4 |
10 | g.113089511C>A | CA378532828 | TCF7L2 | c.483+49385C>A (n.483+49385C>A) c.552+49385C>A (n.552+49385C>A) c.595C>A (p.Gln199Lys) c.505C>A (p.Gln169Lys) c.598C>A (p.Gln200Lys) c.382-51673C>A (n.382-51673C>A) c.280C>A (p.Gln94Lys) c.667C>A (p.Gln223Lys) c.664C>A (p.Gln222Lys) c.208C>A (p.Gln70Lys) | |
10 | g.113089511C= | CA1937197471 | TCF7L2 | c.483+49385C= (n.483+49385C=) c.552+49385C= (n.552+49385C=) c.595C= (p.Gln199=) c.505C= (p.Gln169=) c.598C= (p.Gln200=) c.382-51673C= (n.382-51673C=) c.280C= (p.Gln94=) c.667C= (p.Gln223=) c.664C= (p.Gln222=) c.208C= (p.Gln70=) | |
10 | g.113089511C>G | CA378532829 | TCF7L2 | c.483+49385C>G (n.483+49385C>G) c.552+49385C>G (n.552+49385C>G) c.595C>G (p.Gln199Glu) c.505C>G (p.Gln169Glu) c.598C>G (p.Gln200Glu) c.382-51673C>G (n.382-51673C>G) c.280C>G (p.Gln94Glu) c.667C>G (p.Gln223Glu) c.664C>G (p.Gln222Glu) c.208C>G (p.Gln70Glu) | |
10 | g.113089511C>T | CA5692911 | TCF7L2 | c.483+49385C>T (n.483+49385C>T) c.552+49385C>T (n.552+49385C>T) c.595C>T (p.Gln199Ter) c.505C>T (p.Gln169Ter) c.598C>T (p.Gln200Ter) c.382-51673C>T (n.382-51673C>T) c.280C>T (p.Gln94Ter) c.667C>T (p.Gln223Ter) c.664C>T (p.Gln222Ter) c.208C>T (p.Gln70Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089511_113089512delinsCA | CA1937197472 | TCF7L2 | c.483+49385_483+49386delinsCA (n.483+49385_483+49386delinsCA) c.552+49385_552+49386delinsCA (n.552+49385_552+49386delinsCA) c.595_596delinsCA (p.Gln199=) c.505_506delinsCA (p.Gln169=) c.598_599delinsCA (p.Gln200=) c.382-51673_382-51672delinsCA (n.382-51673_382-51672delinsCA) c.280_281delinsCA (p.Gln94=) c.667_668delinsCA (p.Gln223=) c.664_665delinsCA (p.Gln222=) c.208_209delinsCA (p.Gln70=) | |
10 | g.113089512A= | CA1937197473 | TCF7L2 | c.483+49386A= (n.483+49386A=) c.552+49386A= (n.552+49386A=) c.596A= (p.Gln199=) c.506A= (p.Gln169=) c.599A= (p.Gln200=) c.382-51672A= (n.382-51672A=) c.281A= (p.Gln94=) c.668A= (p.Gln223=) c.665A= (p.Gln222=) c.209A= (p.Gln70=) | |
10 | g.113089512A>C | CA378532830 | TCF7L2 | c.483+49386A>C (n.483+49386A>C) c.552+49386A>C (n.552+49386A>C) c.596A>C (p.Gln199Pro) c.506A>C (p.Gln169Pro) c.599A>C (p.Gln200Pro) c.382-51672A>C (n.382-51672A>C) c.281A>C (p.Gln94Pro) c.668A>C (p.Gln223Pro) c.665A>C (p.Gln222Pro) c.209A>C (p.Gln70Pro) | |
10 | g.113089512A>G | CA5692912 | TCF7L2 | c.483+49386A>G (n.483+49386A>G) c.552+49386A>G (n.552+49386A>G) c.596A>G (p.Gln199Arg) c.506A>G (p.Gln169Arg) c.599A>G (p.Gln200Arg) c.382-51672A>G (n.382-51672A>G) c.281A>G (p.Gln94Arg) c.668A>G (p.Gln223Arg) c.665A>G (p.Gln222Arg) c.209A>G (p.Gln70Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089512A>T | CA378532831 | TCF7L2 | c.483+49386A>T (n.483+49386A>T) c.552+49386A>T (n.552+49386A>T) c.596A>T (p.Gln199Leu) c.506A>T (p.Gln169Leu) c.599A>T (p.Gln200Leu) c.382-51672A>T (n.382-51672A>T) c.281A>T (p.Gln94Leu) c.668A>T (p.Gln223Leu) c.665A>T (p.Gln222Leu) c.209A>T (p.Gln70Leu) | |
10 | g.113089516del | CA660068030 | TCF7L2 | c.483+49390del (n.483+49390del) c.552+49390del (n.552+49390del) c.600del (p.Val201LeufsTer?) c.510del (p.Val171LeufsTer?) c.603del (p.Val202LeufsTer?) c.382-51668del (n.382-51668del) c.285del (p.Val96LeufsTer?) c.672del (p.Val225LeufsTer?) c.669del (p.Val224LeufsTer?) c.213del (p.Val72LeufsTer?) | dbSNP |
10 | g.113089513A>C | CA378532832 | TCF7L2 | c.483+49387A>C (n.483+49387A>C) c.552+49387A>C (n.552+49387A>C) c.597A>C (p.Gln199His) c.507A>C (p.Gln169His) c.600A>C (p.Gln200His) c.382-51671A>C (n.382-51671A>C) c.282A>C (p.Gln94His) c.669A>C (p.Gln223His) c.666A>C (p.Gln222His) c.210A>C (p.Gln70His) | |
10 | g.113089513A>T | CA378532833 | TCF7L2 | c.483+49387A>T (n.483+49387A>T) c.552+49387A>T (n.552+49387A>T) c.597A>T (p.Gln199His) c.507A>T (p.Gln169His) c.600A>T (p.Gln200His) c.382-51671A>T (n.382-51671A>T) c.282A>T (p.Gln94His) c.669A>T (p.Gln223His) c.666A>T (p.Gln222His) c.210A>T (p.Gln70His) | |
10 | g.113089514A>C | CA378532834 | TCF7L2 | c.483+49388A>C (n.483+49388A>C) c.552+49388A>C (n.552+49388A>C) c.598A>C (p.Lys200Gln) c.508A>C (p.Lys170Gln) c.601A>C (p.Lys201Gln) c.382-51670A>C (n.382-51670A>C) c.283A>C (p.Lys95Gln) c.670A>C (p.Lys224Gln) c.667A>C (p.Lys223Gln) c.211A>C (p.Lys71Gln) | |
10 | g.113089514A>G | CA378532835 | TCF7L2 | c.483+49388A>G (n.483+49388A>G) c.552+49388A>G (n.552+49388A>G) c.598A>G (p.Lys200Glu) c.508A>G (p.Lys170Glu) c.601A>G (p.Lys201Glu) c.382-51670A>G (n.382-51670A>G) c.283A>G (p.Lys95Glu) c.670A>G (p.Lys224Glu) c.667A>G (p.Lys223Glu) c.211A>G (p.Lys71Glu) | |
10 | g.113089514A>T | CA378532836 | TCF7L2 | c.483+49388A>T (n.483+49388A>T) c.552+49388A>T (n.552+49388A>T) c.598A>T (p.Lys200Ter) c.508A>T (p.Lys170Ter) c.601A>T (p.Lys201Ter) c.382-51670A>T (n.382-51670A>T) c.283A>T (p.Lys95Ter) c.670A>T (p.Lys224Ter) c.667A>T (p.Lys223Ter) c.211A>T (p.Lys71Ter) | |
10 | g.113089515A>C | CA378532837 | TCF7L2 | c.483+49389A>C (n.483+49389A>C) c.552+49389A>C (n.552+49389A>C) c.599A>C (p.Lys200Thr) c.509A>C (p.Lys170Thr) c.602A>C (p.Lys201Thr) c.382-51669A>C (n.382-51669A>C) c.284A>C (p.Lys95Thr) c.671A>C (p.Lys224Thr) c.668A>C (p.Lys223Thr) c.212A>C (p.Lys71Thr) | |
10 | g.113089515A>G | CA378532838 | TCF7L2 | c.483+49389A>G (n.483+49389A>G) c.552+49389A>G (n.552+49389A>G) c.599A>G (p.Lys200Arg) c.509A>G (p.Lys170Arg) c.602A>G (p.Lys201Arg) c.382-51669A>G (n.382-51669A>G) c.284A>G (p.Lys95Arg) c.671A>G (p.Lys224Arg) c.668A>G (p.Lys223Arg) c.212A>G (p.Lys71Arg) | |
10 | g.113089515A>T | CA378532839 | TCF7L2 | c.483+49389A>T (n.483+49389A>T) c.552+49389A>T (n.552+49389A>T) c.599A>T (p.Lys200Ile) c.509A>T (p.Lys170Ile) c.602A>T (p.Lys201Ile) c.382-51669A>T (n.382-51669A>T) c.284A>T (p.Lys95Ile) c.671A>T (p.Lys224Ile) c.668A>T (p.Lys223Ile) c.212A>T (p.Lys71Ile) | |
10 | g.113089516A= | CA1937197474 | TCF7L2 | c.483+49390A= (n.483+49390A=) c.552+49390A= (n.552+49390A=) c.600A= (p.Lys200=) c.510A= (p.Lys170=) c.603A= (p.Lys201=) c.382-51668A= (n.382-51668A=) c.285A= (p.Lys95=) c.672A= (p.Lys224=) c.669A= (p.Lys223=) c.213A= (p.Lys71=) | |
10 | g.113089516A>C | CA378532840 | TCF7L2 | c.483+49390A>C (n.483+49390A>C) c.552+49390A>C (n.552+49390A>C) c.600A>C (p.Lys200Asn) c.510A>C (p.Lys170Asn) c.603A>C (p.Lys201Asn) c.382-51668A>C (n.382-51668A>C) c.285A>C (p.Lys95Asn) c.672A>C (p.Lys224Asn) c.669A>C (p.Lys223Asn) c.213A>C (p.Lys71Asn) | gnomAD v4 |
10 | g.113089516A>G | CA1937197475 | TCF7L2 | c.483+49390A>G (n.483+49390A>G) c.552+49390A>G (n.552+49390A>G) c.600A>G (p.Lys200=) c.510A>G (p.Lys170=) c.603A>G (p.Lys201=) c.382-51668A>G (n.382-51668A>G) c.285A>G (p.Lys95=) c.672A>G (p.Lys224=) c.669A>G (p.Lys223=) c.213A>G (p.Lys71=) | dbSNP |
10 | g.113089516A>T | CA378532841 | TCF7L2 | c.483+49390A>T (n.483+49390A>T) c.552+49390A>T (n.552+49390A>T) c.600A>T (p.Lys200Asn) c.510A>T (p.Lys170Asn) c.603A>T (p.Lys201Asn) c.382-51668A>T (n.382-51668A>T) c.285A>T (p.Lys95Asn) c.672A>T (p.Lys224Asn) c.669A>T (p.Lys223Asn) c.213A>T (p.Lys71Asn) | gnomAD v4 |
10 | g.113089517G>A | CA378532844 | TCF7L2 | c.483+49391G>A (n.483+49391G>A) c.552+49391G>A (n.552+49391G>A) c.601G>A (p.Val201Ile) c.511G>A (p.Val171Ile) c.604G>A (p.Val202Ile) c.382-51667G>A (n.382-51667G>A) c.286G>A (p.Val96Ile) c.673G>A (p.Val225Ile) c.670G>A (p.Val224Ile) c.214G>A (p.Val72Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089517G>C | CA378532843 | TCF7L2 | c.483+49391G>C (n.483+49391G>C) c.552+49391G>C (n.552+49391G>C) c.601G>C (p.Val201Leu) c.511G>C (p.Val171Leu) c.604G>C (p.Val202Leu) c.382-51667G>C (n.382-51667G>C) c.286G>C (p.Val96Leu) c.673G>C (p.Val225Leu) c.670G>C (p.Val224Leu) c.214G>C (p.Val72Leu) | gnomAD v4 |
10 | g.113089517G= | CA1937197476 | TCF7L2 | c.483+49391G= (n.483+49391G=) c.552+49391G= (n.552+49391G=) c.601G= (p.Val201=) c.511G= (p.Val171=) c.604G= (p.Val202=) c.382-51667G= (n.382-51667G=) c.286G= (p.Val96=) c.673G= (p.Val225=) c.670G= (p.Val224=) c.214G= (p.Val72=) | |
10 | g.113089517G>T | CA378532842 | TCF7L2 | c.483+49391G>T (n.483+49391G>T) c.552+49391G>T (n.552+49391G>T) c.601G>T (p.Val201Phe) c.511G>T (p.Val171Phe) c.604G>T (p.Val202Phe) c.382-51667G>T (n.382-51667G>T) c.286G>T (p.Val96Phe) c.673G>T (p.Val225Phe) c.670G>T (p.Val224Phe) c.214G>T (p.Val72Phe) | |
10 | g.113089518T>A | CA378532847 | TCF7L2 | c.483+49392T>A (n.483+49392T>A) c.552+49392T>A (n.552+49392T>A) c.602T>A (p.Val201Asp) c.512T>A (p.Val171Asp) c.605T>A (p.Val202Asp) c.382-51666T>A (n.382-51666T>A) c.287T>A (p.Val96Asp) c.674T>A (p.Val225Asp) c.671T>A (p.Val224Asp) c.215T>A (p.Val72Asp) | |
10 | g.113089518T>C | CA378532845 | TCF7L2 | c.483+49392T>C (n.483+49392T>C) c.552+49392T>C (n.552+49392T>C) c.602T>C (p.Val201Ala) c.512T>C (p.Val171Ala) c.605T>C (p.Val202Ala) c.382-51666T>C (n.382-51666T>C) c.287T>C (p.Val96Ala) c.674T>C (p.Val225Ala) c.671T>C (p.Val224Ala) c.215T>C (p.Val72Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.113089518T>G | CA378532846 | TCF7L2 | c.483+49392T>G (n.483+49392T>G) c.552+49392T>G (n.552+49392T>G) c.602T>G (p.Val201Gly) c.512T>G (p.Val171Gly) c.605T>G (p.Val202Gly) c.382-51666T>G (n.382-51666T>G) c.287T>G (p.Val96Gly) c.674T>G (p.Val225Gly) c.671T>G (p.Val224Gly) c.215T>G (p.Val72Gly) | |
10 | g.113089518T= | CA1937197477 | TCF7L2 | c.483+49392T= (n.483+49392T=) c.552+49392T= (n.552+49392T=) c.602T= (p.Val201=) c.512T= (p.Val171=) c.605T= (p.Val202=) c.382-51666T= (n.382-51666T=) c.287T= (p.Val96=) c.674T= (p.Val225=) c.671T= (p.Val224=) c.215T= (p.Val72=) | |
10 | g.113089519T>A | CA596094337 | TCF7L2 | c.483+49393T>A (n.483+49393T>A) c.552+49393T>A (n.552+49393T>A) c.603T>A (p.Val201=) c.513T>A (p.Val171=) c.606T>A (p.Val202=) c.382-51665T>A (n.382-51665T>A) c.288T>A (p.Val96=) c.675T>A (p.Val225=) c.672T>A (p.Val224=) c.216T>A (p.Val72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089519T= | CA1937197478 | TCF7L2 | c.483+49393T= (n.483+49393T=) c.552+49393T= (n.552+49393T=) c.603T= (p.Val201=) c.513T= (p.Val171=) c.606T= (p.Val202=) c.382-51665T= (n.382-51665T=) c.288T= (p.Val96=) c.675T= (p.Val225=) c.672T= (p.Val224=) c.216T= (p.Val72=) | |
10 | g.113089520G>A | CA378532848 | TCF7L2 | c.483+49394G>A (n.483+49394G>A) c.552+49394G>A (n.552+49394G>A) c.604G>A (p.Gly202Arg) c.514G>A (p.Gly172Arg) c.607G>A (p.Gly203Arg) c.382-51664G>A (n.382-51664G>A) c.289G>A (p.Gly97Arg) c.676G>A (p.Gly226Arg) c.673G>A (p.Gly225Arg) c.217G>A (p.Gly73Arg) | |
10 | g.113089520G>C | CA5692913 | TCF7L2 | c.483+49394G>C (n.483+49394G>C) c.552+49394G>C (n.552+49394G>C) c.604G>C (p.Gly202Arg) c.514G>C (p.Gly172Arg) c.607G>C (p.Gly203Arg) c.382-51664G>C (n.382-51664G>C) c.289G>C (p.Gly97Arg) c.676G>C (p.Gly226Arg) c.673G>C (p.Gly225Arg) c.217G>C (p.Gly73Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089520G= | CA1937197479 | TCF7L2 | c.483+49394G= (n.483+49394G=) c.552+49394G= (n.552+49394G=) c.604G= (p.Gly202=) c.514G= (p.Gly172=) c.607G= (p.Gly203=) c.382-51664G= (n.382-51664G=) c.289G= (p.Gly97=) c.676G= (p.Gly226=) c.673G= (p.Gly225=) c.217G= (p.Gly73=) | |
10 | g.113089520G>T | CA378532849 | TCF7L2 | c.483+49394G>T (n.483+49394G>T) c.552+49394G>T (n.552+49394G>T) c.604G>T (p.Gly202Trp) c.514G>T (p.Gly172Trp) c.607G>T (p.Gly203Trp) c.382-51664G>T (n.382-51664G>T) c.289G>T (p.Gly97Trp) c.676G>T (p.Gly226Trp) c.673G>T (p.Gly225Trp) c.217G>T (p.Gly73Trp) | |
10 | g.113089521G>A | CA378532852 | TCF7L2 | c.483+49395G>A (n.483+49395G>A) c.552+49395G>A (n.552+49395G>A) c.605G>A (p.Gly202Glu) c.515G>A (p.Gly172Glu) c.608G>A (p.Gly203Glu) c.382-51663G>A (n.382-51663G>A) c.290G>A (p.Gly97Glu) c.677G>A (p.Gly226Glu) c.674G>A (p.Gly225Glu) c.218G>A (p.Gly73Glu) | |
10 | g.113089521G>C | CA378532851 | TCF7L2 | c.483+49395G>C (n.483+49395G>C) c.552+49395G>C (n.552+49395G>C) c.605G>C (p.Gly202Ala) c.515G>C (p.Gly172Ala) c.608G>C (p.Gly203Ala) c.382-51663G>C (n.382-51663G>C) c.290G>C (p.Gly97Ala) c.677G>C (p.Gly226Ala) c.674G>C (p.Gly225Ala) c.218G>C (p.Gly73Ala) | |
10 | g.113089521G>T | CA378532850 | TCF7L2 | c.483+49395G>T (n.483+49395G>T) c.552+49395G>T (n.552+49395G>T) c.605G>T (p.Gly202Val) c.515G>T (p.Gly172Val) c.608G>T (p.Gly203Val) c.382-51663G>T (n.382-51663G>T) c.290G>T (p.Gly97Val) c.677G>T (p.Gly226Val) c.674G>T (p.Gly225Val) c.218G>T (p.Gly73Val) | |
10 | g.113089523G>A | CA214116536 | TCF7L2 | c.483+49397G>A (n.483+49397G>A) c.552+49397G>A (n.552+49397G>A) c.607G>A (p.Glu203Lys) c.517G>A (p.Glu173Lys) c.610G>A (p.Glu204Lys) c.382-51661G>A (n.382-51661G>A) c.292G>A (p.Glu98Lys) c.679G>A (p.Glu227Lys) c.676G>A (p.Glu226Lys) c.220G>A (p.Glu74Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089523G>C | CA378532853 | TCF7L2 | c.483+49397G>C (n.483+49397G>C) c.552+49397G>C (n.552+49397G>C) c.607G>C (p.Glu203Gln) c.517G>C (p.Glu173Gln) c.610G>C (p.Glu204Gln) c.382-51661G>C (n.382-51661G>C) c.292G>C (p.Glu98Gln) c.679G>C (p.Glu227Gln) c.676G>C (p.Glu226Gln) c.220G>C (p.Glu74Gln) | |
10 | g.113089523G= | CA1937197480 | TCF7L2 | c.483+49397G= (n.483+49397G=) c.552+49397G= (n.552+49397G=) c.607G= (p.Glu203=) c.517G= (p.Glu173=) c.610G= (p.Glu204=) c.382-51661G= (n.382-51661G=) c.292G= (p.Glu98=) c.679G= (p.Glu227=) c.676G= (p.Glu226=) c.220G= (p.Glu74=) | |
10 | g.113089523G>T | CA378532854 | TCF7L2 | c.483+49397G>T (n.483+49397G>T) c.552+49397G>T (n.552+49397G>T) c.607G>T (p.Glu203Ter) c.517G>T (p.Glu173Ter) c.610G>T (p.Glu204Ter) c.382-51661G>T (n.382-51661G>T) c.292G>T (p.Glu98Ter) c.679G>T (p.Glu227Ter) c.676G>T (p.Glu226Ter) c.220G>T (p.Glu74Ter) | |
10 | g.113089524A>C | CA378532855 | TCF7L2 | c.483+49398A>C (n.483+49398A>C) c.552+49398A>C (n.552+49398A>C) c.608A>C (p.Glu203Ala) c.518A>C (p.Glu173Ala) c.611A>C (p.Glu204Ala) c.382-51660A>C (n.382-51660A>C) c.293A>C (p.Glu98Ala) c.680A>C (p.Glu227Ala) c.677A>C (p.Glu226Ala) c.221A>C (p.Glu74Ala) | |
10 | g.113089524A>G | CA378532856 | TCF7L2 | c.483+49398A>G (n.483+49398A>G) c.552+49398A>G (n.552+49398A>G) c.608A>G (p.Glu203Gly) c.518A>G (p.Glu173Gly) c.611A>G (p.Glu204Gly) c.382-51660A>G (n.382-51660A>G) c.293A>G (p.Glu98Gly) c.680A>G (p.Glu227Gly) c.677A>G (p.Glu226Gly) c.221A>G (p.Glu74Gly) | |
10 | g.113089524A>T | CA378532857 | TCF7L2 | c.483+49398A>T (n.483+49398A>T) c.552+49398A>T (n.552+49398A>T) c.608A>T (p.Glu203Val) c.518A>T (p.Glu173Val) c.611A>T (p.Glu204Val) c.382-51660A>T (n.382-51660A>T) c.293A>T (p.Glu98Val) c.680A>T (p.Glu227Val) c.677A>T (p.Glu226Val) c.221A>T (p.Glu74Val) | |
10 | g.113089525G>A | CA5692914 | TCF7L2 | c.483+49399G>A (n.483+49399G>A) c.552+49399G>A (n.552+49399G>A) c.609G>A (p.Glu203=) c.519G>A (p.Glu173=) c.612G>A (p.Glu204=) c.382-51659G>A (n.382-51659G>A) c.294G>A (p.Glu98=) c.681G>A (p.Glu227=) c.678G>A (p.Glu226=) c.222G>A (p.Glu74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089525G>C | CA378532859 | TCF7L2 | c.483+49399G>C (n.483+49399G>C) c.552+49399G>C (n.552+49399G>C) c.609G>C (p.Glu203Asp) c.519G>C (p.Glu173Asp) c.612G>C (p.Glu204Asp) c.382-51659G>C (n.382-51659G>C) c.294G>C (p.Glu98Asp) c.681G>C (p.Glu227Asp) c.678G>C (p.Glu226Asp) c.222G>C (p.Glu74Asp) | |
10 | g.113089525G= | CA1937197481 | TCF7L2 | c.483+49399G= (n.483+49399G=) c.552+49399G= (n.552+49399G=) c.609G= (p.Glu203=) c.519G= (p.Glu173=) c.612G= (p.Glu204=) c.382-51659G= (n.382-51659G=) c.294G= (p.Glu98=) c.681G= (p.Glu227=) c.678G= (p.Glu226=) c.222G= (p.Glu74=) | |
10 | g.113089525G>T | CA378532858 | TCF7L2 | c.483+49399G>T (n.483+49399G>T) c.552+49399G>T (n.552+49399G>T) c.609G>T (p.Glu203Asp) c.519G>T (p.Glu173Asp) c.612G>T (p.Glu204Asp) c.382-51659G>T (n.382-51659G>T) c.294G>T (p.Glu98Asp) c.681G>T (p.Glu227Asp) c.678G>T (p.Glu226Asp) c.222G>T (p.Glu74Asp) | |
10 | g.113089526C>A | CA378532860 | TCF7L2 | c.483+49400C>A (n.483+49400C>A) c.552+49400C>A (n.552+49400C>A) c.610C>A (p.Pro204Thr) c.520C>A (p.Pro174Thr) c.613C>A (p.Pro205Thr) c.382-51658C>A (n.382-51658C>A) c.295C>A (p.Pro99Thr) c.682C>A (p.Pro228Thr) c.679C>A (p.Pro227Thr) c.223C>A (p.Pro75Thr) | |
10 | g.113089526C= | CA1937197482 | TCF7L2 | c.483+49400C= (n.483+49400C=) c.552+49400C= (n.552+49400C=) c.610C= (p.Pro204=) c.520C= (p.Pro174=) c.613C= (p.Pro205=) c.382-51658C= (n.382-51658C=) c.295C= (p.Pro99=) c.682C= (p.Pro228=) c.679C= (p.Pro227=) c.223C= (p.Pro75=) | |
10 | g.113089526C>G | CA378532861 | TCF7L2 | c.483+49400C>G (n.483+49400C>G) c.552+49400C>G (n.552+49400C>G) c.610C>G (p.Pro204Ala) c.520C>G (p.Pro174Ala) c.613C>G (p.Pro205Ala) c.382-51658C>G (n.382-51658C>G) c.295C>G (p.Pro99Ala) c.682C>G (p.Pro228Ala) c.679C>G (p.Pro227Ala) c.223C>G (p.Pro75Ala) | |
10 | g.113089526C>T | CA378532862 | TCF7L2 | c.483+49400C>T (n.483+49400C>T) c.552+49400C>T (n.552+49400C>T) c.610C>T (p.Pro204Ser) c.520C>T (p.Pro174Ser) c.613C>T (p.Pro205Ser) c.382-51658C>T (n.382-51658C>T) c.295C>T (p.Pro99Ser) c.682C>T (p.Pro228Ser) c.679C>T (p.Pro227Ser) c.223C>T (p.Pro75Ser) | dbSNP gnomAD v4 |
10 | g.113089527C>A | CA378532863 | TCF7L2 | c.483+49401C>A (n.483+49401C>A) c.552+49401C>A (n.552+49401C>A) c.611C>A (p.Pro204His) c.521C>A (p.Pro174His) c.614C>A (p.Pro205His) c.382-51657C>A (n.382-51657C>A) c.296C>A (p.Pro99His) c.683C>A (p.Pro228His) c.680C>A (p.Pro227His) c.224C>A (p.Pro75His) | |
10 | g.113089527C= | CA1937197483 | TCF7L2 | c.483+49401C= (n.483+49401C=) c.552+49401C= (n.552+49401C=) c.611C= (p.Pro204=) c.521C= (p.Pro174=) c.614C= (p.Pro205=) c.382-51657C= (n.382-51657C=) c.296C= (p.Pro99=) c.683C= (p.Pro228=) c.680C= (p.Pro227=) c.224C= (p.Pro75=) | |
10 | g.113089527C>G | CA378532864 | TCF7L2 | c.483+49401C>G (n.483+49401C>G) c.552+49401C>G (n.552+49401C>G) c.611C>G (p.Pro204Arg) c.521C>G (p.Pro174Arg) c.614C>G (p.Pro205Arg) c.382-51657C>G (n.382-51657C>G) c.296C>G (p.Pro99Arg) c.683C>G (p.Pro228Arg) c.680C>G (p.Pro227Arg) c.224C>G (p.Pro75Arg) | |
10 | g.113089527C>T | CA214116537 | TCF7L2 | c.483+49401C>T (n.483+49401C>T) c.552+49401C>T (n.552+49401C>T) c.611C>T (p.Pro204Leu) c.521C>T (p.Pro174Leu) c.614C>T (p.Pro205Leu) c.382-51657C>T (n.382-51657C>T) c.296C>T (p.Pro99Leu) c.683C>T (p.Pro228Leu) c.680C>T (p.Pro227Leu) c.224C>T (p.Pro75Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089529T>A | CA378532865 | TCF7L2 | c.483+49403T>A (n.483+49403T>A) c.552+49403T>A (n.552+49403T>A) c.613T>A (p.Trp205Arg) c.523T>A (p.Trp175Arg) c.616T>A (p.Trp206Arg) c.382-51655T>A (n.382-51655T>A) c.298T>A (p.Trp100Arg) c.685T>A (p.Trp229Arg) c.682T>A (p.Trp228Arg) c.226T>A (p.Trp76Arg) | |
10 | g.113089529T>C | CA378532866 | TCF7L2 | c.483+49403T>C (n.483+49403T>C) c.552+49403T>C (n.552+49403T>C) c.613T>C (p.Trp205Arg) c.523T>C (p.Trp175Arg) c.616T>C (p.Trp206Arg) c.382-51655T>C (n.382-51655T>C) c.298T>C (p.Trp100Arg) c.685T>C (p.Trp229Arg) c.682T>C (p.Trp228Arg) c.226T>C (p.Trp76Arg) | |
10 | g.113089529T>G | CA378532867 | TCF7L2 | c.483+49403T>G (n.483+49403T>G) c.552+49403T>G (n.552+49403T>G) c.613T>G (p.Trp205Gly) c.523T>G (p.Trp175Gly) c.616T>G (p.Trp206Gly) c.382-51655T>G (n.382-51655T>G) c.298T>G (p.Trp100Gly) c.685T>G (p.Trp229Gly) c.682T>G (p.Trp228Gly) c.226T>G (p.Trp76Gly) | |
10 | g.113089530G>A | CA378532868 | TCF7L2 | c.483+49404G>A (n.483+49404G>A) c.552+49404G>A (n.552+49404G>A) c.614G>A (p.Trp205Ter) c.524G>A (p.Trp175Ter) c.617G>A (p.Trp206Ter) c.382-51654G>A (n.382-51654G>A) c.299G>A (p.Trp100Ter) c.686G>A (p.Trp229Ter) c.683G>A (p.Trp228Ter) c.227G>A (p.Trp76Ter) | |
10 | g.113089530G>C | CA378532869 | TCF7L2 | c.483+49404G>C (n.483+49404G>C) c.552+49404G>C (n.552+49404G>C) c.614G>C (p.Trp205Ser) c.524G>C (p.Trp175Ser) c.617G>C (p.Trp206Ser) c.382-51654G>C (n.382-51654G>C) c.299G>C (p.Trp100Ser) c.686G>C (p.Trp229Ser) c.683G>C (p.Trp228Ser) c.227G>C (p.Trp76Ser) | |
10 | g.113089530G= | CA1937197484 | TCF7L2 | c.483+49404G= (n.483+49404G=) c.552+49404G= (n.552+49404G=) c.614G= (p.Trp205=) c.524G= (p.Trp175=) c.617G= (p.Trp206=) c.382-51654G= (n.382-51654G=) c.299G= (p.Trp100=) c.686G= (p.Trp229=) c.683G= (p.Trp228=) c.227G= (p.Trp76=) | |
10 | g.113089530G>T | CA378532870 | TCF7L2 | c.483+49404G>T (n.483+49404G>T) c.552+49404G>T (n.552+49404G>T) c.614G>T (p.Trp205Leu) c.524G>T (p.Trp175Leu) c.617G>T (p.Trp206Leu) c.382-51654G>T (n.382-51654G>T) c.299G>T (p.Trp100Leu) c.686G>T (p.Trp229Leu) c.683G>T (p.Trp228Leu) c.227G>T (p.Trp76Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089531G>A | CA378532872 | TCF7L2 | c.483+49405G>A (n.483+49405G>A) c.552+49405G>A (n.552+49405G>A) c.615G>A (p.Trp205Ter) c.525G>A (p.Trp175Ter) c.618G>A (p.Trp206Ter) c.382-51653G>A (n.382-51653G>A) c.300G>A (p.Trp100Ter) c.687G>A (p.Trp229Ter) c.684G>A (p.Trp228Ter) c.228G>A (p.Trp76Ter) | |
10 | g.113089531G>C | CA378532873 | TCF7L2 | c.483+49405G>C (n.483+49405G>C) c.552+49405G>C (n.552+49405G>C) c.615G>C (p.Trp205Cys) c.525G>C (p.Trp175Cys) c.618G>C (p.Trp206Cys) c.382-51653G>C (n.382-51653G>C) c.300G>C (p.Trp100Cys) c.687G>C (p.Trp229Cys) c.684G>C (p.Trp228Cys) c.228G>C (p.Trp76Cys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089531G= | CA1937197485 | TCF7L2 | c.483+49405G= (n.483+49405G=) c.552+49405G= (n.552+49405G=) c.615G= (p.Trp205=) c.525G= (p.Trp175=) c.618G= (p.Trp206=) c.382-51653G= (n.382-51653G=) c.300G= (p.Trp100=) c.687G= (p.Trp229=) c.684G= (p.Trp228=) c.228G= (p.Trp76=) | |
10 | g.113089531G>T | CA378532871 | TCF7L2 | c.483+49405G>T (n.483+49405G>T) c.552+49405G>T (n.552+49405G>T) c.615G>T (p.Trp205Cys) c.525G>T (p.Trp175Cys) c.618G>T (p.Trp206Cys) c.382-51653G>T (n.382-51653G>T) c.300G>T (p.Trp100Cys) c.687G>T (p.Trp229Cys) c.684G>T (p.Trp228Cys) c.228G>T (p.Trp76Cys) | |
10 | g.113089532T>A | CA378532874 | TCF7L2 | c.483+49406T>A (n.483+49406T>A) c.552+49406T>A (n.552+49406T>A) c.616T>A (p.Cys206Ser) c.526T>A (p.Cys176Ser) c.619T>A (p.Cys207Ser) c.382-51652T>A (n.382-51652T>A) c.301T>A (p.Cys101Ser) c.688T>A (p.Cys230Ser) c.685T>A (p.Cys229Ser) c.229T>A (p.Cys77Ser) | |
10 | g.113089532T>C | CA378532876 | TCF7L2 | c.483+49406T>C (n.483+49406T>C) c.552+49406T>C (n.552+49406T>C) c.616T>C (p.Cys206Arg) c.526T>C (p.Cys176Arg) c.619T>C (p.Cys207Arg) c.382-51652T>C (n.382-51652T>C) c.301T>C (p.Cys101Arg) c.688T>C (p.Cys230Arg) c.685T>C (p.Cys229Arg) c.229T>C (p.Cys77Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089532T>G | CA378532875 | TCF7L2 | c.483+49406T>G (n.483+49406T>G) c.552+49406T>G (n.552+49406T>G) c.616T>G (p.Cys206Gly) c.526T>G (p.Cys176Gly) c.619T>G (p.Cys207Gly) c.382-51652T>G (n.382-51652T>G) c.301T>G (p.Cys101Gly) c.688T>G (p.Cys230Gly) c.685T>G (p.Cys229Gly) c.229T>G (p.Cys77Gly) | |
10 | g.113089532T= | CA1937197486 | TCF7L2 | c.483+49406T= (n.483+49406T=) c.552+49406T= (n.552+49406T=) c.616T= (p.Cys206=) c.526T= (p.Cys176=) c.619T= (p.Cys207=) c.382-51652T= (n.382-51652T=) c.301T= (p.Cys101=) c.688T= (p.Cys230=) c.685T= (p.Cys229=) c.229T= (p.Cys77=) | |
10 | g.113089533G>A | CA5692915 | TCF7L2 | c.483+49407G>A (n.483+49407G>A) c.552+49407G>A (n.552+49407G>A) c.617G>A (p.Cys206Tyr) c.527G>A (p.Cys176Tyr) c.620G>A (p.Cys207Tyr) c.382-51651G>A (n.382-51651G>A) c.302G>A (p.Cys101Tyr) c.689G>A (p.Cys230Tyr) c.686G>A (p.Cys229Tyr) c.230G>A (p.Cys77Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089533G>C | CA378532877 | TCF7L2 | c.483+49407G>C (n.483+49407G>C) c.552+49407G>C (n.552+49407G>C) c.617G>C (p.Cys206Ser) c.527G>C (p.Cys176Ser) c.620G>C (p.Cys207Ser) c.382-51651G>C (n.382-51651G>C) c.302G>C (p.Cys101Ser) c.689G>C (p.Cys230Ser) c.686G>C (p.Cys229Ser) c.230G>C (p.Cys77Ser) | |
10 | g.113089533G= | CA1937197487 | TCF7L2 | c.483+49407G= (n.483+49407G=) c.552+49407G= (n.552+49407G=) c.617G= (p.Cys206=) c.527G= (p.Cys176=) c.620G= (p.Cys207=) c.382-51651G= (n.382-51651G=) c.302G= (p.Cys101=) c.689G= (p.Cys230=) c.686G= (p.Cys229=) c.230G= (p.Cys77=) | |
10 | g.113089533G>T | CA378532878 | TCF7L2 | c.483+49407G>T (n.483+49407G>T) c.552+49407G>T (n.552+49407G>T) c.617G>T (p.Cys206Phe) c.527G>T (p.Cys176Phe) c.620G>T (p.Cys207Phe) c.382-51651G>T (n.382-51651G>T) c.302G>T (p.Cys101Phe) c.689G>T (p.Cys230Phe) c.686G>T (p.Cys229Phe) c.230G>T (p.Cys77Phe) | |
10 | g.113089534T>A | CA378532879 | TCF7L2 | c.483+49408T>A (n.483+49408T>A) c.552+49408T>A (n.552+49408T>A) c.618T>A (p.Cys206Ter) c.528T>A (p.Cys176Ter) c.621T>A (p.Cys207Ter) c.382-51650T>A (n.382-51650T>A) c.303T>A (p.Cys101Ter) c.690T>A (p.Cys230Ter) c.687T>A (p.Cys229Ter) c.231T>A (p.Cys77Ter) | |
10 | g.113089534T>C | CA471493206 | TCF7L2 | c.483+49408T>C (n.483+49408T>C) c.552+49408T>C (n.552+49408T>C) c.618T>C (p.Cys206=) c.528T>C (p.Cys176=) c.621T>C (p.Cys207=) c.382-51650T>C (n.382-51650T>C) c.303T>C (p.Cys101=) c.690T>C (p.Cys230=) c.687T>C (p.Cys229=) c.231T>C (p.Cys77=) | gnomAD v4 COSMIC |
10 | g.113089534T>G | CA378532880 | TCF7L2 | c.483+49408T>G (n.483+49408T>G) c.552+49408T>G (n.552+49408T>G) c.618T>G (p.Cys206Trp) c.528T>G (p.Cys176Trp) c.621T>G (p.Cys207Trp) c.382-51650T>G (n.382-51650T>G) c.303T>G (p.Cys101Trp) c.690T>G (p.Cys230Trp) c.687T>G (p.Cys229Trp) c.231T>G (p.Cys77Trp) | |
10 | g.113089535A= | CA1937197488 | TCF7L2 | c.483+49409A= (n.483+49409A=) c.552+49409A= (n.552+49409A=) c.619A= (p.Ile207=) c.529A= (p.Ile177=) c.622A= (p.Ile208=) c.382-51649A= (n.382-51649A=) c.304A= (p.Ile102=) c.691A= (p.Ile231=) c.688A= (p.Ile230=) c.232A= (p.Ile78=) | |
10 | g.113089535A>C | CA378532881 | TCF7L2 | c.483+49409A>C (n.483+49409A>C) c.552+49409A>C (n.552+49409A>C) c.619A>C (p.Ile207Leu) c.529A>C (p.Ile177Leu) c.622A>C (p.Ile208Leu) c.382-51649A>C (n.382-51649A>C) c.304A>C (p.Ile102Leu) c.691A>C (p.Ile231Leu) c.688A>C (p.Ile230Leu) c.232A>C (p.Ile78Leu) | |
10 | g.113089535A>G | CA214116538 | TCF7L2 | c.483+49409A>G (n.483+49409A>G) c.552+49409A>G (n.552+49409A>G) c.619A>G (p.Ile207Val) c.529A>G (p.Ile177Val) c.622A>G (p.Ile208Val) c.382-51649A>G (n.382-51649A>G) c.304A>G (p.Ile102Val) c.691A>G (p.Ile231Val) c.688A>G (p.Ile230Val) c.232A>G (p.Ile78Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.113089535A>T | CA378532882 | TCF7L2 | c.483+49409A>T (n.483+49409A>T) c.552+49409A>T (n.552+49409A>T) c.619A>T (p.Ile207Phe) c.529A>T (p.Ile177Phe) c.622A>T (p.Ile208Phe) c.382-51649A>T (n.382-51649A>T) c.304A>T (p.Ile102Phe) c.691A>T (p.Ile231Phe) c.688A>T (p.Ile230Phe) c.232A>T (p.Ile78Phe) | |
10 | g.113089536T>A | CA378532883 | TCF7L2 | c.483+49410T>A (n.483+49410T>A) c.552+49410T>A (n.552+49410T>A) c.620T>A (p.Ile207Asn) c.530T>A (p.Ile177Asn) c.623T>A (p.Ile208Asn) c.382-51648T>A (n.382-51648T>A) c.305T>A (p.Ile102Asn) c.692T>A (p.Ile231Asn) c.689T>A (p.Ile230Asn) c.233T>A (p.Ile78Asn) | |
10 | g.113089536T>C | CA378532885 | TCF7L2 | c.483+49410T>C (n.483+49410T>C) c.552+49410T>C (n.552+49410T>C) c.620T>C (p.Ile207Thr) c.530T>C (p.Ile177Thr) c.623T>C (p.Ile208Thr) c.382-51648T>C (n.382-51648T>C) c.305T>C (p.Ile102Thr) c.692T>C (p.Ile231Thr) c.689T>C (p.Ile230Thr) c.233T>C (p.Ile78Thr) | gnomAD v4 |
10 | g.113089536T>G | CA378532886 | TCF7L2 | c.483+49410T>G (n.483+49410T>G) c.552+49410T>G (n.552+49410T>G) c.620T>G (p.Ile207Ser) c.530T>G (p.Ile177Ser) c.623T>G (p.Ile208Ser) c.382-51648T>G (n.382-51648T>G) c.305T>G (p.Ile102Ser) c.692T>G (p.Ile231Ser) c.689T>G (p.Ile230Ser) c.233T>G (p.Ile78Ser) | |
10 | g.113089537T>C | CA2574671143 | TCF7L2 | c.483+49411T>C (n.483+49411T>C) c.552+49411T>C (n.552+49411T>C) c.621T>C (p.Ile207=) c.531T>C (p.Ile177=) c.624T>C (p.Ile208=) c.382-51647T>C (n.382-51647T>C) c.306T>C (p.Ile102=) c.693T>C (p.Ile231=) c.690T>C (p.Ile230=) c.234T>C (p.Ile78=) | |
10 | g.113089537T>G | CA378532887 | TCF7L2 | c.483+49411T>G (n.483+49411T>G) c.552+49411T>G (n.552+49411T>G) c.621T>G (p.Ile207Met) c.531T>G (p.Ile177Met) c.624T>G (p.Ile208Met) c.382-51647T>G (n.382-51647T>G) c.306T>G (p.Ile102Met) c.693T>G (p.Ile231Met) c.690T>G (p.Ile230Met) c.234T>G (p.Ile78Met) | |
10 | g.113089538G>A | CA378532890 | TCF7L2 | c.483+49412G>A (n.483+49412G>A) c.552+49412G>A (n.552+49412G>A) c.622G>A (p.Glu208Lys) c.532G>A (p.Glu178Lys) c.625G>A (p.Glu209Lys) c.382-51646G>A (n.382-51646G>A) c.307G>A (p.Glu103Lys) c.694G>A (p.Glu232Lys) c.691G>A (p.Glu231Lys) c.235G>A (p.Glu79Lys) | |
10 | g.113089538G>C | CA378532888 | TCF7L2 | c.483+49412G>C (n.483+49412G>C) c.552+49412G>C (n.552+49412G>C) c.622G>C (p.Glu208Gln) c.532G>C (p.Glu178Gln) c.625G>C (p.Glu209Gln) c.382-51646G>C (n.382-51646G>C) c.307G>C (p.Glu103Gln) c.694G>C (p.Glu232Gln) c.691G>C (p.Glu231Gln) c.235G>C (p.Glu79Gln) | dbSNP |
10 | g.113089538G= | CA1937197489 | TCF7L2 | c.483+49412G= (n.483+49412G=) c.552+49412G= (n.552+49412G=) c.622G= (p.Glu208=) c.532G= (p.Glu178=) c.625G= (p.Glu209=) c.382-51646G= (n.382-51646G=) c.307G= (p.Glu103=) c.694G= (p.Glu232=) c.691G= (p.Glu231=) c.235G= (p.Glu79=) | |
10 | g.113089538G>T | CA378532889 | TCF7L2 | c.483+49412G>T (n.483+49412G>T) c.552+49412G>T (n.552+49412G>T) c.622G>T (p.Glu208Ter) c.532G>T (p.Glu178Ter) c.625G>T (p.Glu209Ter) c.382-51646G>T (n.382-51646G>T) c.307G>T (p.Glu103Ter) c.694G>T (p.Glu232Ter) c.691G>T (p.Glu231Ter) c.235G>T (p.Glu79Ter) | |
10 | g.113089539A>C | CA378532892 | TCF7L2 | c.483+49413A>C (n.483+49413A>C) c.552+49413A>C (n.552+49413A>C) c.623A>C (p.Glu208Ala) c.533A>C (p.Glu178Ala) c.626A>C (p.Glu209Ala) c.382-51645A>C (n.382-51645A>C) c.308A>C (p.Glu103Ala) c.695A>C (p.Glu232Ala) c.692A>C (p.Glu231Ala) c.236A>C (p.Glu79Ala) | |
10 | g.113089539A>G | CA378532893 | TCF7L2 | c.483+49413A>G (n.483+49413A>G) c.552+49413A>G (n.552+49413A>G) c.623A>G (p.Glu208Gly) c.533A>G (p.Glu178Gly) c.626A>G (p.Glu209Gly) c.382-51645A>G (n.382-51645A>G) c.308A>G (p.Glu103Gly) c.695A>G (p.Glu232Gly) c.692A>G (p.Glu231Gly) c.236A>G (p.Glu79Gly) | |
10 | g.113089539A>T | CA378532894 | TCF7L2 | c.483+49413A>T (n.483+49413A>T) c.552+49413A>T (n.552+49413A>T) c.623A>T (p.Glu208Val) c.533A>T (p.Glu178Val) c.626A>T (p.Glu209Val) c.382-51645A>T (n.382-51645A>T) c.308A>T (p.Glu103Val) c.695A>T (p.Glu232Val) c.692A>T (p.Glu231Val) c.236A>T (p.Glu79Val) | |
10 | g.113089540G>C | CA378532896 | TCF7L2 | c.483+49414G>C (n.483+49414G>C) c.552+49414G>C (n.552+49414G>C) c.624G>C (p.Glu208Asp) c.534G>C (p.Glu178Asp) c.627G>C (p.Glu209Asp) c.382-51644G>C (n.382-51644G>C) c.309G>C (p.Glu103Asp) c.696G>C (p.Glu232Asp) c.693G>C (p.Glu231Asp) c.237G>C (p.Glu79Asp) | |
10 | g.113089540G>T | CA378532897 | TCF7L2 | c.483+49414G>T (n.483+49414G>T) c.552+49414G>T (n.552+49414G>T) c.624G>T (p.Glu208Asp) c.534G>T (p.Glu178Asp) c.627G>T (p.Glu209Asp) c.382-51644G>T (n.382-51644G>T) c.309G>T (p.Glu103Asp) c.696G>T (p.Glu232Asp) c.693G>T (p.Glu231Asp) c.237G>T (p.Glu79Asp) | |
10 | g.113089541G>A | CA378532898 | TCF7L2 | c.483+49415G>A (n.483+49415G>A) c.552+49415G>A (n.552+49415G>A) c.624+1G>A (n.624+1G>A) c.534+1G>A (n.534+1G>A) c.627+1G>A (n.627+1G>A) c.382-51643G>A (n.382-51643G>A) c.309+1G>A (n.309+1G>A) c.696+1G>A (n.696+1G>A) c.693+1G>A (n.693+1G>A) c.237+1G>A (n.237+1G>A) | gnomAD v4 |
10 | g.113089541G>C | CA378532899 | TCF7L2 | c.483+49415G>C (n.483+49415G>C) c.552+49415G>C (n.552+49415G>C) c.624+1G>C (n.624+1G>C) c.534+1G>C (n.534+1G>C) c.627+1G>C (n.627+1G>C) c.382-51643G>C (n.382-51643G>C) c.309+1G>C (n.309+1G>C) c.696+1G>C (n.696+1G>C) c.693+1G>C (n.693+1G>C) c.237+1G>C (n.237+1G>C) | |
10 | g.113089541G= | CA1937197490 | TCF7L2 | c.483+49415G= (n.483+49415G=) c.552+49415G= (n.552+49415G=) c.624+1G= (n.624+1G=) c.534+1G= (n.534+1G=) c.627+1G= (n.627+1G=) c.382-51643G= (n.382-51643G=) c.309+1G= (n.309+1G=) c.696+1G= (n.696+1G=) c.693+1G= (n.693+1G=) c.237+1G= (n.237+1G=) | |
10 | g.113089541G>T | CA378532900 | TCF7L2 | c.483+49415G>T (n.483+49415G>T) c.552+49415G>T (n.552+49415G>T) c.624+1G>T (n.624+1G>T) c.534+1G>T (n.534+1G>T) c.627+1G>T (n.627+1G>T) c.382-51643G>T (n.382-51643G>T) c.309+1G>T (n.309+1G>T) c.696+1G>T (n.696+1G>T) c.693+1G>T (n.693+1G>T) c.237+1G>T (n.237+1G>T) | dbSNP |
10 | g.113089542T>A | CA5692916 | TCF7L2 | c.483+49416T>A (n.483+49416T>A) c.552+49416T>A (n.552+49416T>A) c.624+2T>A (n.624+2T>A) c.534+2T>A (n.534+2T>A) c.627+2T>A (n.627+2T>A) c.382-51642T>A (n.382-51642T>A) c.309+2T>A (n.309+2T>A) c.696+2T>A (n.696+2T>A) c.693+2T>A (n.693+2T>A) c.237+2T>A (n.237+2T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089542T>C | CA378532901 | TCF7L2 | c.483+49416T>C (n.483+49416T>C) c.552+49416T>C (n.552+49416T>C) c.624+2T>C (n.624+2T>C) c.534+2T>C (n.534+2T>C) c.627+2T>C (n.627+2T>C) c.382-51642T>C (n.382-51642T>C) c.309+2T>C (n.309+2T>C) c.696+2T>C (n.696+2T>C) c.693+2T>C (n.693+2T>C) c.237+2T>C (n.237+2T>C) | |
10 | g.113089542T>G | CA378532902 | TCF7L2 | c.483+49416T>G (n.483+49416T>G) c.552+49416T>G (n.552+49416T>G) c.624+2T>G (n.624+2T>G) c.534+2T>G (n.534+2T>G) c.627+2T>G (n.627+2T>G) c.382-51642T>G (n.382-51642T>G) c.309+2T>G (n.309+2T>G) c.696+2T>G (n.696+2T>G) c.693+2T>G (n.693+2T>G) c.237+2T>G (n.237+2T>G) | |
10 | g.113089542T= | CA1937197491 | TCF7L2 | c.483+49416T= (n.483+49416T=) c.552+49416T= (n.552+49416T=) c.624+2T= (n.624+2T=) c.534+2T= (n.534+2T=) c.627+2T= (n.627+2T=) c.382-51642T= (n.382-51642T=) c.309+2T= (n.309+2T=) c.696+2T= (n.696+2T=) c.693+2T= (n.693+2T=) c.237+2T= (n.237+2T=) | |
10 | g.113089543A= | CA1937197492 | TCF7L2 | c.483+49417A= (n.483+49417A=) c.552+49417A= (n.552+49417A=) c.624+3A= (n.624+3A=) c.534+3A= (n.534+3A=) c.627+3A= (n.627+3A=) c.382-51641A= (n.382-51641A=) c.309+3A= (n.309+3A=) c.696+3A= (n.696+3A=) c.693+3A= (n.693+3A=) c.237+3A= (n.237+3A=) | |
10 | g.113089543A>G | CA5692917 | TCF7L2 | c.483+49417A>G (n.483+49417A>G) c.552+49417A>G (n.552+49417A>G) c.624+3A>G (n.624+3A>G) c.534+3A>G (n.534+3A>G) c.627+3A>G (n.627+3A>G) c.382-51641A>G (n.382-51641A>G) c.309+3A>G (n.309+3A>G) c.696+3A>G (n.696+3A>G) c.693+3A>G (n.693+3A>G) c.237+3A>G (n.237+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089546T>C | CA2574671144 | TCF7L2 | c.483+49420T>C (n.483+49420T>C) c.552+49420T>C (n.552+49420T>C) c.624+6T>C (n.624+6T>C) c.534+6T>C (n.534+6T>C) c.627+6T>C (n.627+6T>C) c.382-51638T>C (n.382-51638T>C) c.309+6T>C (n.309+6T>C) c.696+6T>C (n.696+6T>C) c.693+6T>C (n.693+6T>C) c.237+6T>C (n.237+6T>C) | |
10 | g.113089547C>A | CA596094340 | TCF7L2 | c.483+49421C>A (n.483+49421C>A) c.552+49421C>A (n.552+49421C>A) c.624+7C>A (n.624+7C>A) c.534+7C>A (n.534+7C>A) c.627+7C>A (n.627+7C>A) c.382-51637C>A (n.382-51637C>A) c.309+7C>A (n.309+7C>A) c.696+7C>A (n.696+7C>A) c.693+7C>A (n.693+7C>A) c.237+7C>A (n.237+7C>A) | dbSNP gnomAD v2 |
10 | g.113089547C= | CA1937197493 | TCF7L2 | c.483+49421C= (n.483+49421C=) c.552+49421C= (n.552+49421C=) c.624+7C= (n.624+7C=) c.534+7C= (n.534+7C=) c.627+7C= (n.627+7C=) c.382-51637C= (n.382-51637C=) c.309+7C= (n.309+7C=) c.696+7C= (n.696+7C=) c.693+7C= (n.693+7C=) c.237+7C= (n.237+7C=) | |
10 | g.113089547C>G | CA596094341 | TCF7L2 | c.483+49421C>G (n.483+49421C>G) c.552+49421C>G (n.552+49421C>G) c.624+7C>G (n.624+7C>G) c.534+7C>G (n.534+7C>G) c.627+7C>G (n.627+7C>G) c.382-51637C>G (n.382-51637C>G) c.309+7C>G (n.309+7C>G) c.696+7C>G (n.696+7C>G) c.693+7C>G (n.693+7C>G) c.237+7C>G (n.237+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113089547C>T | CA2610944507 | TCF7L2 | c.483+49421C>T (n.483+49421C>T) c.552+49421C>T (n.552+49421C>T) c.624+7C>T (n.624+7C>T) c.534+7C>T (n.534+7C>T) c.627+7C>T (n.627+7C>T) c.382-51637C>T (n.382-51637C>T) c.309+7C>T (n.309+7C>T) c.696+7C>T (n.696+7C>T) c.693+7C>T (n.693+7C>T) c.237+7C>T (n.237+7C>T) | gnomAD v4 |
10 | g.113089548T>G | CA660068104 | TCF7L2 | c.483+49422T>G (n.483+49422T>G) c.552+49422T>G (n.552+49422T>G) c.624+8T>G (n.624+8T>G) c.534+8T>G (n.534+8T>G) c.627+8T>G (n.627+8T>G) c.382-51636T>G (n.382-51636T>G) c.309+8T>G (n.309+8T>G) c.696+8T>G (n.696+8T>G) c.693+8T>G (n.693+8T>G) c.237+8T>G (n.237+8T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089548T= | CA1937197494 | TCF7L2 | c.483+49422T= (n.483+49422T=) c.552+49422T= (n.552+49422T=) c.624+8T= (n.624+8T=) c.534+8T= (n.534+8T=) c.627+8T= (n.627+8T=) c.382-51636T= (n.382-51636T=) c.309+8T= (n.309+8T=) c.696+8T= (n.696+8T=) c.693+8T= (n.693+8T=) c.237+8T= (n.237+8T=) | |
10 | g.113089549C= | CA1937197495 | TCF7L2 | c.483+49423C= (n.483+49423C=) c.552+49423C= (n.552+49423C=) c.624+9C= (n.624+9C=) c.534+9C= (n.534+9C=) c.627+9C= (n.627+9C=) c.382-51635C= (n.382-51635C=) c.309+9C= (n.309+9C=) c.696+9C= (n.696+9C=) c.693+9C= (n.693+9C=) c.237+9C= (n.237+9C=) | |
10 | g.113089549C>T | CA5692918 | TCF7L2 | c.483+49423C>T (n.483+49423C>T) c.552+49423C>T (n.552+49423C>T) c.624+9C>T (n.624+9C>T) c.534+9C>T (n.534+9C>T) c.627+9C>T (n.627+9C>T) c.382-51635C>T (n.382-51635C>T) c.309+9C>T (n.309+9C>T) c.696+9C>T (n.696+9C>T) c.693+9C>T (n.693+9C>T) c.237+9C>T (n.237+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089550G>A | CA5692919 | TCF7L2 | c.483+49424G>A (n.483+49424G>A) c.552+49424G>A (n.552+49424G>A) c.624+10G>A (n.624+10G>A) c.534+10G>A (n.534+10G>A) c.627+10G>A (n.627+10G>A) c.382-51634G>A (n.382-51634G>A) c.309+10G>A (n.309+10G>A) c.696+10G>A (n.696+10G>A) c.693+10G>A (n.693+10G>A) c.237+10G>A (n.237+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089550G= | CA1937197496 | TCF7L2 | c.483+49424G= (n.483+49424G=) c.552+49424G= (n.552+49424G=) c.624+10G= (n.624+10G=) c.534+10G= (n.534+10G=) c.627+10G= (n.627+10G=) c.382-51634G= (n.382-51634G=) c.309+10G= (n.309+10G=) c.696+10G= (n.696+10G=) c.693+10G= (n.693+10G=) c.237+10G= (n.237+10G=) | |
10 | g.113089551G>T | CA2508637131 | TCF7L2 | c.483+49425G>T (n.483+49425G>T) c.552+49425G>T (n.552+49425G>T) c.624+11G>T (n.624+11G>T) c.534+11G>T (n.534+11G>T) c.627+11G>T (n.627+11G>T) c.382-51633G>T (n.382-51633G>T) c.309+11G>T (n.309+11G>T) c.696+11G>T (n.696+11G>T) c.693+11G>T (n.693+11G>T) c.237+11G>T (n.237+11G>T) | |
10 | g.113089553G>A | CA2610944508 | TCF7L2 | c.483+49427G>A (n.483+49427G>A) c.552+49427G>A (n.552+49427G>A) c.624+13G>A (n.624+13G>A) c.534+13G>A (n.534+13G>A) c.627+13G>A (n.627+13G>A) c.382-51631G>A (n.382-51631G>A) c.309+13G>A (n.309+13G>A) c.696+13G>A (n.696+13G>A) c.693+13G>A (n.693+13G>A) c.237+13G>A (n.237+13G>A) | gnomAD v4 |
10 | g.113089558A>G | CA2610944509 | TCF7L2 | c.483+49432A>G (n.483+49432A>G) c.552+49432A>G (n.552+49432A>G) c.624+18A>G (n.624+18A>G) c.534+18A>G (n.534+18A>G) c.627+18A>G (n.627+18A>G) c.382-51626A>G (n.382-51626A>G) c.309+18A>G (n.309+18A>G) c.696+18A>G (n.696+18A>G) c.693+18A>G (n.693+18A>G) c.237+18A>G (n.237+18A>G) | gnomAD v4 |
10 | g.113089560C>A | CA2574671145 | TCF7L2 | c.483+49434C>A (n.483+49434C>A) c.552+49434C>A (n.552+49434C>A) c.624+20C>A (n.624+20C>A) c.534+20C>A (n.534+20C>A) c.627+20C>A (n.627+20C>A) c.382-51624C>A (n.382-51624C>A) c.309+20C>A (n.309+20C>A) c.696+20C>A (n.696+20C>A) c.693+20C>A (n.693+20C>A) c.237+20C>A (n.237+20C>A) | |
10 | g.113089560C>G | CA2574671146 | TCF7L2 | c.483+49434C>G (n.483+49434C>G) c.552+49434C>G (n.552+49434C>G) c.624+20C>G (n.624+20C>G) c.534+20C>G (n.534+20C>G) c.627+20C>G (n.627+20C>G) c.382-51624C>G (n.382-51624C>G) c.309+20C>G (n.309+20C>G) c.696+20C>G (n.696+20C>G) c.693+20C>G (n.693+20C>G) c.237+20C>G (n.237+20C>G) | |
10 | g.113089562C= | CA1937197497 | TCF7L2 | c.483+49436C= (n.483+49436C=) c.552+49436C= (n.552+49436C=) c.624+22C= (n.624+22C=) c.534+22C= (n.534+22C=) c.627+22C= (n.627+22C=) c.382-51622C= (n.382-51622C=) c.309+22C= (n.309+22C=) c.696+22C= (n.696+22C=) c.693+22C= (n.693+22C=) c.237+22C= (n.237+22C=) | |
10 | g.113089562C>G | CA2521404886 | TCF7L2 | c.483+49436C>G (n.483+49436C>G) c.552+49436C>G (n.552+49436C>G) c.624+22C>G (n.624+22C>G) c.534+22C>G (n.534+22C>G) c.627+22C>G (n.627+22C>G) c.382-51622C>G (n.382-51622C>G) c.309+22C>G (n.309+22C>G) c.696+22C>G (n.696+22C>G) c.693+22C>G (n.693+22C>G) c.237+22C>G (n.237+22C>G) | |
10 | g.113089562C>T | CA5692920 | TCF7L2 | c.483+49436C>T (n.483+49436C>T) c.552+49436C>T (n.552+49436C>T) c.624+22C>T (n.624+22C>T) c.534+22C>T (n.534+22C>T) c.627+22C>T (n.627+22C>T) c.382-51622C>T (n.382-51622C>T) c.309+22C>T (n.309+22C>T) c.696+22C>T (n.696+22C>T) c.693+22C>T (n.693+22C>T) c.237+22C>T (n.237+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113089563G>A | CA5692921 | TCF7L2 | c.483+49437G>A (n.483+49437G>A) c.552+49437G>A (n.552+49437G>A) c.624+23G>A (n.624+23G>A) c.534+23G>A (n.534+23G>A) c.627+23G>A (n.627+23G>A) c.382-51621G>A (n.382-51621G>A) c.309+23G>A (n.309+23G>A) c.696+23G>A (n.696+23G>A) c.693+23G>A (n.693+23G>A) c.237+23G>A (n.237+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089563G>C | CA2610944510 | TCF7L2 | c.483+49437G>C (n.483+49437G>C) c.552+49437G>C (n.552+49437G>C) c.624+23G>C (n.624+23G>C) c.534+23G>C (n.534+23G>C) c.627+23G>C (n.627+23G>C) c.382-51621G>C (n.382-51621G>C) c.309+23G>C (n.309+23G>C) c.696+23G>C (n.696+23G>C) c.693+23G>C (n.693+23G>C) c.237+23G>C (n.237+23G>C) | gnomAD v4 |
10 | g.113089563G= | CA1937197498 | TCF7L2 | c.483+49437G= (n.483+49437G=) c.552+49437G= (n.552+49437G=) c.624+23G= (n.624+23G=) c.534+23G= (n.534+23G=) c.627+23G= (n.627+23G=) c.382-51621G= (n.382-51621G=) c.309+23G= (n.309+23G=) c.696+23G= (n.696+23G=) c.693+23G= (n.693+23G=) c.237+23G= (n.237+23G=) | |
10 | g.113089563G>T | CA214116539 | TCF7L2 | c.483+49437G>T (n.483+49437G>T) c.552+49437G>T (n.552+49437G>T) c.624+23G>T (n.624+23G>T) c.534+23G>T (n.534+23G>T) c.627+23G>T (n.627+23G>T) c.382-51621G>T (n.382-51621G>T) c.309+23G>T (n.309+23G>T) c.696+23G>T (n.696+23G>T) c.693+23G>T (n.693+23G>T) c.237+23G>T (n.237+23G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113089566A= | CA1937197499 | TCF7L2 | c.483+49440A= (n.483+49440A=) c.552+49440A= (n.552+49440A=) c.624+26A= (n.624+26A=) c.534+26A= (n.534+26A=) c.627+26A= (n.627+26A=) c.382-51618A= (n.382-51618A=) c.309+26A= (n.309+26A=) c.696+26A= (n.696+26A=) c.693+26A= (n.693+26A=) c.237+26A= (n.237+26A=) | |
10 | g.113089566A>G | CA5692922 | TCF7L2 | c.483+49440A>G (n.483+49440A>G) c.552+49440A>G (n.552+49440A>G) c.624+26A>G (n.624+26A>G) c.534+26A>G (n.534+26A>G) c.627+26A>G (n.627+26A>G) c.382-51618A>G (n.382-51618A>G) c.309+26A>G (n.309+26A>G) c.696+26A>G (n.696+26A>G) c.693+26A>G (n.693+26A>G) c.237+26A>G (n.237+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113089568G>T | CA2571666483 | TCF7L2 | c.483+49442G>T (n.483+49442G>T) c.552+49442G>T (n.552+49442G>T) c.624+28G>T (n.624+28G>T) c.534+28G>T (n.534+28G>T) c.627+28G>T (n.627+28G>T) c.382-51616G>T (n.382-51616G>T) c.309+28G>T (n.309+28G>T) c.696+28G>T (n.696+28G>T) c.693+28G>T (n.693+28G>T) c.237+28G>T (n.237+28G>T) | |
10 | g.113089570G>A | CA2574671147 | TCF7L2 | c.483+49444G>A (n.483+49444G>A) c.552+49444G>A (n.552+49444G>A) c.624+30G>A (n.624+30G>A) c.534+30G>A (n.534+30G>A) c.627+30G>A (n.627+30G>A) c.382-51614G>A (n.382-51614G>A) c.309+30G>A (n.309+30G>A) c.696+30G>A (n.696+30G>A) c.693+30G>A (n.693+30G>A) c.237+30G>A (n.237+30G>A) | |
10 | g.113089570G>T | CA2610944511 | TCF7L2 | c.483+49444G>T (n.483+49444G>T) c.552+49444G>T (n.552+49444G>T) c.624+30G>T (n.624+30G>T) c.534+30G>T (n.534+30G>T) c.627+30G>T (n.627+30G>T) c.382-51614G>T (n.382-51614G>T) c.309+30G>T (n.309+30G>T) c.696+30G>T (n.696+30G>T) c.693+30G>T (n.693+30G>T) c.237+30G>T (n.237+30G>T) | gnomAD v4 |
10 | g.113089571A>G | CA2610944512 | TCF7L2 | c.483+49445A>G (n.483+49445A>G) c.552+49445A>G (n.552+49445A>G) c.624+31A>G (n.624+31A>G) c.534+31A>G (n.534+31A>G) c.627+31A>G (n.627+31A>G) c.382-51613A>G (n.382-51613A>G) c.309+31A>G (n.309+31A>G) c.696+31A>G (n.696+31A>G) c.693+31A>G (n.693+31A>G) c.237+31A>G (n.237+31A>G) | gnomAD v4 |
10 | g.113089573G>C | CA2574671148 | TCF7L2 | c.483+49447G>C (n.483+49447G>C) c.552+49447G>C (n.552+49447G>C) c.624+33G>C (n.624+33G>C) c.534+33G>C (n.534+33G>C) c.627+33G>C (n.627+33G>C) c.382-51611G>C (n.382-51611G>C) c.309+33G>C (n.309+33G>C) c.696+33G>C (n.696+33G>C) c.693+33G>C (n.693+33G>C) c.237+33G>C (n.237+33G>C) | gnomAD v4 |
10 | g.113089576C>A | CA2610944514 | TCF7L2 | c.483+49450C>A (n.483+49450C>A) c.552+49450C>A (n.552+49450C>A) c.624+36C>A (n.624+36C>A) c.534+36C>A (n.534+36C>A) c.627+36C>A (n.627+36C>A) c.382-51608C>A (n.382-51608C>A) c.309+36C>A (n.309+36C>A) c.696+36C>A (n.696+36C>A) c.693+36C>A (n.693+36C>A) c.237+36C>A (n.237+36C>A) | gnomAD v4 |
10 | g.113089576C>G | CA2610944515 | TCF7L2 | c.483+49450C>G (n.483+49450C>G) c.552+49450C>G (n.552+49450C>G) c.624+36C>G (n.624+36C>G) c.534+36C>G (n.534+36C>G) c.627+36C>G (n.627+36C>G) c.382-51608C>G (n.382-51608C>G) c.309+36C>G (n.309+36C>G) c.696+36C>G (n.696+36C>G) c.693+36C>G (n.693+36C>G) c.237+36C>G (n.237+36C>G) | gnomAD v4 |
10 | g.113089576C>T | CA2610944516 | TCF7L2 | c.483+49450C>T (n.483+49450C>T) c.552+49450C>T (n.552+49450C>T) c.624+36C>T (n.624+36C>T) c.534+36C>T (n.534+36C>T) c.627+36C>T (n.627+36C>T) c.382-51608C>T (n.382-51608C>T) c.309+36C>T (n.309+36C>T) c.696+36C>T (n.696+36C>T) c.693+36C>T (n.693+36C>T) c.237+36C>T (n.237+36C>T) | gnomAD v4 |
10 | g.113089579_113089584del | CA2610944513 | TCF7L2 | c.483+49453_483+49458del (n.483+49453_483+49458del) c.552+49453_552+49458del (n.552+49453_552+49458del) c.624+39_624+44del (n.624+39_624+44del) c.534+39_534+44del (n.534+39_534+44del) c.627+39_627+44del (n.627+39_627+44del) c.382-51605_382-51600del (n.382-51605_382-51600del) c.309+39_309+44del (n.309+39_309+44del) c.696+39_696+44del (n.696+39_696+44del) c.693+39_693+44del (n.693+39_693+44del) c.237+39_237+44del (n.237+39_237+44del) | gnomAD v4 |
10 | g.113089577T>A | CA2610944517 | TCF7L2 | c.483+49451T>A (n.483+49451T>A) c.552+49451T>A (n.552+49451T>A) c.624+37T>A (n.624+37T>A) c.534+37T>A (n.534+37T>A) c.627+37T>A (n.627+37T>A) c.382-51607T>A (n.382-51607T>A) c.309+37T>A (n.309+37T>A) c.696+37T>A (n.696+37T>A) c.693+37T>A (n.693+37T>A) c.237+37T>A (n.237+37T>A) | gnomAD v4 |
10 | g.113089582C>A | CA2610944518 | TCF7L2 | c.483+49456C>A (n.483+49456C>A) c.552+49456C>A (n.552+49456C>A) c.624+42C>A (n.624+42C>A) c.534+42C>A (n.534+42C>A) c.627+42C>A (n.627+42C>A) c.382-51602C>A (n.382-51602C>A) c.309+42C>A (n.309+42C>A) c.696+42C>A (n.696+42C>A) c.693+42C>A (n.693+42C>A) c.237+42C>A (n.237+42C>A) | gnomAD v4 |
10 | g.113089582C>G | CA2610944519 | TCF7L2 | c.483+49456C>G (n.483+49456C>G) c.552+49456C>G (n.552+49456C>G) c.624+42C>G (n.624+42C>G) c.534+42C>G (n.534+42C>G) c.627+42C>G (n.627+42C>G) c.382-51602C>G (n.382-51602C>G) c.309+42C>G (n.309+42C>G) c.696+42C>G (n.696+42C>G) c.693+42C>G (n.693+42C>G) c.237+42C>G (n.237+42C>G) | gnomAD v4 |