| 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.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) |