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