| 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.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=) |