UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113089416_113089417del | CA912966507 | TCF7L2 | c.483+49290_483+49291del (n.483+49290_483+49291del) c.552+49290_552+49291del (n.552+49290_552+49291del) c.500_501del (p.Cys167TyrfsTer5) c.410_411del (p.Cys137TyrfsTer5) c.503_504del (p.Cys168TyrfsTer5) c.382-51768_382-51767del (n.382-51768_382-51767del) c.185_186del (p.Cys62TyrfsTer5) c.572_573del (p.Cys191TyrfsTer5) c.569_570del (p.Cys190TyrfsTer5) c.113_114del (p.Cys38TyrfsTer5) | |
| 10 | g.113089417C>A | CA378532617 | TCF7L2 | c.483+49291C>A (n.483+49291C>A) c.552+49291C>A (n.552+49291C>A) c.501C>A (p.Cys167Ter) c.411C>A (p.Cys137Ter) c.504C>A (p.Cys168Ter) c.382-51767C>A (n.382-51767C>A) c.186C>A (p.Cys62Ter) c.573C>A (p.Cys191Ter) c.570C>A (p.Cys190Ter) c.114C>A (p.Cys38Ter) | |
| 10 | g.113089417C>G | CA378532618 | TCF7L2 | c.483+49291C>G (n.483+49291C>G) c.552+49291C>G (n.552+49291C>G) c.501C>G (p.Cys167Trp) c.411C>G (p.Cys137Trp) c.504C>G (p.Cys168Trp) c.382-51767C>G (n.382-51767C>G) c.186C>G (p.Cys62Trp) c.573C>G (p.Cys191Trp) c.570C>G (p.Cys190Trp) c.114C>G (p.Cys38Trp) | |
| 10 | g.113089417C>T | CA2610944498 | TCF7L2 | c.483+49291C>T (n.483+49291C>T) c.552+49291C>T (n.552+49291C>T) c.501C>T (p.Cys167=) c.411C>T (p.Cys137=) c.504C>T (p.Cys168=) c.382-51767C>T (n.382-51767C>T) c.186C>T (p.Cys62=) c.573C>T (p.Cys191=) c.570C>T (p.Cys190=) c.114C>T (p.Cys38=) | gnomAD v4 |
| 10 | g.113089418A= | CA1937197428 | TCF7L2 | c.483+49292A= (n.483+49292A=) c.552+49292A= (n.552+49292A=) c.502A= (p.Thr168=) c.412A= (p.Thr138=) c.505A= (p.Thr169=) c.382-51766A= (n.382-51766A=) c.187A= (p.Thr63=) c.574A= (p.Thr192=) c.571A= (p.Thr191=) c.115A= (p.Thr39=) | |
| 10 | g.113089418A>C | CA378532619 | TCF7L2 | c.483+49292A>C (n.483+49292A>C) c.552+49292A>C (n.552+49292A>C) c.502A>C (p.Thr168Pro) c.412A>C (p.Thr138Pro) c.505A>C (p.Thr169Pro) c.382-51766A>C (n.382-51766A>C) c.187A>C (p.Thr63Pro) c.574A>C (p.Thr192Pro) c.571A>C (p.Thr191Pro) c.115A>C (p.Thr39Pro) | |
| 10 | g.113089418A>G | CA378532620 | TCF7L2 | c.483+49292A>G (n.483+49292A>G) c.552+49292A>G (n.552+49292A>G) c.502A>G (p.Thr168Ala) c.412A>G (p.Thr138Ala) c.505A>G (p.Thr169Ala) c.382-51766A>G (n.382-51766A>G) c.187A>G (p.Thr63Ala) c.574A>G (p.Thr192Ala) c.571A>G (p.Thr191Ala) c.115A>G (p.Thr39Ala) | dbSNP |
| 10 | g.113089418A>T | CA378532621 | TCF7L2 | c.483+49292A>T (n.483+49292A>T) c.552+49292A>T (n.552+49292A>T) c.502A>T (p.Thr168Ser) c.412A>T (p.Thr138Ser) c.505A>T (p.Thr169Ser) c.382-51766A>T (n.382-51766A>T) c.187A>T (p.Thr63Ser) c.574A>T (p.Thr192Ser) c.571A>T (p.Thr191Ser) c.115A>T (p.Thr39Ser) | |
| 10 | g.113089419C>A | CA378532622 | TCF7L2 | c.483+49293C>A (n.483+49293C>A) c.552+49293C>A (n.552+49293C>A) c.503C>A (p.Thr168Asn) c.413C>A (p.Thr138Asn) c.506C>A (p.Thr169Asn) c.382-51765C>A (n.382-51765C>A) c.188C>A (p.Thr63Asn) c.575C>A (p.Thr192Asn) c.572C>A (p.Thr191Asn) c.116C>A (p.Thr39Asn) | gnomAD v4 |
| 10 | g.113089419C>G | CA378532623 | TCF7L2 | c.483+49293C>G (n.483+49293C>G) c.552+49293C>G (n.552+49293C>G) c.503C>G (p.Thr168Ser) c.413C>G (p.Thr138Ser) c.506C>G (p.Thr169Ser) c.382-51765C>G (n.382-51765C>G) c.188C>G (p.Thr63Ser) c.575C>G (p.Thr192Ser) c.572C>G (p.Thr191Ser) c.116C>G (p.Thr39Ser) | |
| 10 | g.113089419C>T | CA378532624 | TCF7L2 | c.483+49293C>T (n.483+49293C>T) c.552+49293C>T (n.552+49293C>T) c.503C>T (p.Thr168Ile) c.413C>T (p.Thr138Ile) c.506C>T (p.Thr169Ile) c.382-51765C>T (n.382-51765C>T) c.188C>T (p.Thr63Ile) c.575C>T (p.Thr192Ile) c.572C>T (p.Thr191Ile) c.116C>T (p.Thr39Ile) | |
| 10 | g.113089421C>A | CA378532626 | TCF7L2 | c.483+49295C>A (n.483+49295C>A) c.552+49295C>A (n.552+49295C>A) c.505C>A (p.Gln169Lys) c.415C>A (p.Gln139Lys) c.508C>A (p.Gln170Lys) c.382-51763C>A (n.382-51763C>A) c.190C>A (p.Gln64Lys) c.577C>A (p.Gln193Lys) c.574C>A (p.Gln192Lys) c.118C>A (p.Gln40Lys) | |
| 10 | g.113089421C= | CA1937197429 | TCF7L2 | c.483+49295C= (n.483+49295C=) c.552+49295C= (n.552+49295C=) c.505C= (p.Gln169=) c.415C= (p.Gln139=) c.508C= (p.Gln170=) c.382-51763C= (n.382-51763C=) c.190C= (p.Gln64=) c.577C= (p.Gln193=) c.574C= (p.Gln192=) c.118C= (p.Gln40=) | |
| 10 | g.113089421C>G | CA5692889 | TCF7L2 | c.483+49295C>G (n.483+49295C>G) c.552+49295C>G (n.552+49295C>G) c.505C>G (p.Gln169Glu) c.415C>G (p.Gln139Glu) c.508C>G (p.Gln170Glu) c.382-51763C>G (n.382-51763C>G) c.190C>G (p.Gln64Glu) c.577C>G (p.Gln193Glu) c.574C>G (p.Gln192Glu) c.118C>G (p.Gln40Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113089421C>T | CA378532625 | TCF7L2 | c.483+49295C>T (n.483+49295C>T) c.552+49295C>T (n.552+49295C>T) c.505C>T (p.Gln169Ter) c.415C>T (p.Gln139Ter) c.508C>T (p.Gln170Ter) c.382-51763C>T (n.382-51763C>T) c.190C>T (p.Gln64Ter) c.577C>T (p.Gln193Ter) c.574C>T (p.Gln192Ter) c.118C>T (p.Gln40Ter) | gnomAD v4 |
| 10 | g.113089422A>C | CA378532627 | TCF7L2 | c.483+49296A>C (n.483+49296A>C) c.552+49296A>C (n.552+49296A>C) c.506A>C (p.Gln169Pro) c.416A>C (p.Gln139Pro) c.509A>C (p.Gln170Pro) c.382-51762A>C (n.382-51762A>C) c.191A>C (p.Gln64Pro) c.578A>C (p.Gln193Pro) c.575A>C (p.Gln192Pro) c.119A>C (p.Gln40Pro) | |
| 10 | g.113089422A>G | CA378532628 | TCF7L2 | c.483+49296A>G (n.483+49296A>G) c.552+49296A>G (n.552+49296A>G) c.506A>G (p.Gln169Arg) c.416A>G (p.Gln139Arg) c.509A>G (p.Gln170Arg) c.382-51762A>G (n.382-51762A>G) c.191A>G (p.Gln64Arg) c.578A>G (p.Gln193Arg) c.575A>G (p.Gln192Arg) c.119A>G (p.Gln40Arg) | |
| 10 | g.113089422A>T | CA378532629 | TCF7L2 | c.483+49296A>T (n.483+49296A>T) c.552+49296A>T (n.552+49296A>T) c.506A>T (p.Gln169Leu) c.416A>T (p.Gln139Leu) c.509A>T (p.Gln170Leu) c.382-51762A>T (n.382-51762A>T) c.191A>T (p.Gln64Leu) c.578A>T (p.Gln193Leu) c.575A>T (p.Gln192Leu) c.119A>T (p.Gln40Leu) | |
| 10 | g.113089423G>A | CA2610944499 | TCF7L2 | c.483+49297G>A (n.483+49297G>A) c.552+49297G>A (n.552+49297G>A) c.507G>A (p.Gln169=) c.417G>A (p.Gln139=) c.510G>A (p.Gln170=) c.382-51761G>A (n.382-51761G>A) c.192G>A (p.Gln64=) c.579G>A (p.Gln193=) c.576G>A (p.Gln192=) c.120G>A (p.Gln40=) | gnomAD v4 |
| 10 | g.113089423G>C | CA378532630 | TCF7L2 | c.483+49297G>C (n.483+49297G>C) c.552+49297G>C (n.552+49297G>C) c.507G>C (p.Gln169His) c.417G>C (p.Gln139His) c.510G>C (p.Gln170His) c.382-51761G>C (n.382-51761G>C) c.192G>C (p.Gln64His) c.579G>C (p.Gln193His) c.576G>C (p.Gln192His) c.120G>C (p.Gln40His) | |
| 10 | g.113089423G= | CA1937197430 | TCF7L2 | c.483+49297G= (n.483+49297G=) c.552+49297G= (n.552+49297G=) c.507G= (p.Gln169=) c.417G= (p.Gln139=) c.510G= (p.Gln170=) c.382-51761G= (n.382-51761G=) c.192G= (p.Gln64=) c.579G= (p.Gln193=) c.576G= (p.Gln192=) c.120G= (p.Gln40=) | |
| 10 | g.113089423G>T | CA5692890 | TCF7L2 | c.483+49297G>T (n.483+49297G>T) c.552+49297G>T (n.552+49297G>T) c.507G>T (p.Gln169His) c.417G>T (p.Gln139His) c.510G>T (p.Gln170His) c.382-51761G>T (n.382-51761G>T) c.192G>T (p.Gln64His) c.579G>T (p.Gln193His) c.576G>T (p.Gln192His) c.120G>T (p.Gln40His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113089424G>A | CA378532631 | TCF7L2 | c.483+49298G>A (n.483+49298G>A) c.552+49298G>A (n.552+49298G>A) c.508G>A (p.Gly170Arg) c.418G>A (p.Gly140Arg) c.511G>A (p.Gly171Arg) c.382-51760G>A (n.382-51760G>A) c.193G>A (p.Gly65Arg) c.580G>A (p.Gly194Arg) c.577G>A (p.Gly193Arg) c.121G>A (p.Gly41Arg) | |
| 10 | g.113089424G>C | CA378532633 | TCF7L2 | c.483+49298G>C (n.483+49298G>C) c.552+49298G>C (n.552+49298G>C) c.508G>C (p.Gly170Arg) c.418G>C (p.Gly140Arg) c.511G>C (p.Gly171Arg) c.382-51760G>C (n.382-51760G>C) c.193G>C (p.Gly65Arg) c.580G>C (p.Gly194Arg) c.577G>C (p.Gly193Arg) c.121G>C (p.Gly41Arg) | |
| 10 | g.113089424G>T | CA378532632 | TCF7L2 | c.483+49298G>T (n.483+49298G>T) c.552+49298G>T (n.552+49298G>T) c.508G>T (p.Gly170Ter) c.418G>T (p.Gly140Ter) c.511G>T (p.Gly171Ter) c.382-51760G>T (n.382-51760G>T) c.193G>T (p.Gly65Ter) c.580G>T (p.Gly194Ter) c.577G>T (p.Gly193Ter) c.121G>T (p.Gly41Ter) | |
| 10 | g.113089425G>A | CA378532634 | TCF7L2 | c.483+49299G>A (n.483+49299G>A) c.552+49299G>A (n.552+49299G>A) c.509G>A (p.Gly170Glu) c.419G>A (p.Gly140Glu) c.512G>A (p.Gly171Glu) c.382-51759G>A (n.382-51759G>A) c.194G>A (p.Gly65Glu) c.581G>A (p.Gly194Glu) c.578G>A (p.Gly193Glu) c.122G>A (p.Gly41Glu) | |
| 10 | g.113089425G>C | CA378532635 | TCF7L2 | c.483+49299G>C (n.483+49299G>C) c.552+49299G>C (n.552+49299G>C) c.509G>C (p.Gly170Ala) c.419G>C (p.Gly140Ala) c.512G>C (p.Gly171Ala) c.382-51759G>C (n.382-51759G>C) c.194G>C (p.Gly65Ala) c.581G>C (p.Gly194Ala) c.578G>C (p.Gly193Ala) c.122G>C (p.Gly41Ala) | |
| 10 | g.113089425G>T | CA378532636 | TCF7L2 | c.483+49299G>T (n.483+49299G>T) c.552+49299G>T (n.552+49299G>T) c.509G>T (p.Gly170Val) c.419G>T (p.Gly140Val) c.512G>T (p.Gly171Val) c.382-51759G>T (n.382-51759G>T) c.194G>T (p.Gly65Val) c.581G>T (p.Gly194Val) c.578G>T (p.Gly193Val) c.122G>T (p.Gly41Val) | dbSNP |
| 10 | g.113089427C>A | CA378532637 | TCF7L2 | c.483+49301C>A (n.483+49301C>A) c.552+49301C>A (n.552+49301C>A) c.511C>A (p.His171Asn) c.421C>A (p.His141Asn) c.514C>A (p.His172Asn) c.382-51757C>A (n.382-51757C>A) c.196C>A (p.His66Asn) c.583C>A (p.His195Asn) c.580C>A (p.His194Asn) c.124C>A (p.His42Asn) | |
| 10 | g.113089427C>G | CA378532638 | TCF7L2 | c.483+49301C>G (n.483+49301C>G) c.552+49301C>G (n.552+49301C>G) c.511C>G (p.His171Asp) c.421C>G (p.His141Asp) c.514C>G (p.His172Asp) c.382-51757C>G (n.382-51757C>G) c.196C>G (p.His66Asp) c.583C>G (p.His195Asp) c.580C>G (p.His194Asp) c.124C>G (p.His42Asp) | |
| 10 | g.113089427C>T | CA378532639 | TCF7L2 | c.483+49301C>T (n.483+49301C>T) c.552+49301C>T (n.552+49301C>T) c.511C>T (p.His171Tyr) c.421C>T (p.His141Tyr) c.514C>T (p.His172Tyr) c.382-51757C>T (n.382-51757C>T) c.196C>T (p.His66Tyr) c.583C>T (p.His195Tyr) c.580C>T (p.His194Tyr) c.124C>T (p.His42Tyr) | gnomAD v4 |
| 10 | g.113089428A= | CA1937197431 | TCF7L2 | c.483+49302A= (n.483+49302A=) c.552+49302A= (n.552+49302A=) c.512A= (p.His171=) c.422A= (p.His141=) c.515A= (p.His172=) c.382-51756A= (n.382-51756A=) c.197A= (p.His66=) c.584A= (p.His195=) c.581A= (p.His194=) c.125A= (p.His42=) | |
| 10 | g.113089428A>C | CA378532640 | TCF7L2 | c.483+49302A>C (n.483+49302A>C) c.552+49302A>C (n.552+49302A>C) c.512A>C (p.His171Pro) c.422A>C (p.His141Pro) c.515A>C (p.His172Pro) c.382-51756A>C (n.382-51756A>C) c.197A>C (p.His66Pro) c.584A>C (p.His195Pro) c.581A>C (p.His194Pro) c.125A>C (p.His42Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113089428A>G | CA378532641 | TCF7L2 | c.483+49302A>G (n.483+49302A>G) c.552+49302A>G (n.552+49302A>G) c.512A>G (p.His171Arg) c.422A>G (p.His141Arg) c.515A>G (p.His172Arg) c.382-51756A>G (n.382-51756A>G) c.197A>G (p.His66Arg) c.584A>G (p.His195Arg) c.581A>G (p.His194Arg) c.125A>G (p.His42Arg) | dbSNP gnomAD v4 |
| 10 | g.113089428A>T | CA378532642 | TCF7L2 | c.483+49302A>T (n.483+49302A>T) c.552+49302A>T (n.552+49302A>T) c.512A>T (p.His171Leu) c.422A>T (p.His141Leu) c.515A>T (p.His172Leu) c.382-51756A>T (n.382-51756A>T) c.197A>T (p.His66Leu) c.584A>T (p.His195Leu) c.581A>T (p.His194Leu) c.125A>T (p.His42Leu) | |
| 10 | g.113089429T>A | CA378532643 | TCF7L2 | c.483+49303T>A (n.483+49303T>A) c.552+49303T>A (n.552+49303T>A) c.513T>A (p.His171Gln) c.423T>A (p.His141Gln) c.516T>A (p.His172Gln) c.382-51755T>A (n.382-51755T>A) c.198T>A (p.His66Gln) c.585T>A (p.His195Gln) c.582T>A (p.His194Gln) c.126T>A (p.His42Gln) | |
| 10 | g.113089429T>G | CA378532644 | TCF7L2 | c.483+49303T>G (n.483+49303T>G) c.552+49303T>G (n.552+49303T>G) c.513T>G (p.His171Gln) c.423T>G (p.His141Gln) c.516T>G (p.His172Gln) c.382-51755T>G (n.382-51755T>G) c.198T>G (p.His66Gln) c.585T>G (p.His195Gln) c.582T>G (p.His194Gln) c.126T>G (p.His42Gln) | gnomAD v4 |
| 10 | g.113089430G>A | CA378532645 | TCF7L2 | c.483+49304G>A (n.483+49304G>A) c.552+49304G>A (n.552+49304G>A) c.514G>A (p.Asp172Asn) c.424G>A (p.Asp142Asn) c.517G>A (p.Asp173Asn) c.382-51754G>A (n.382-51754G>A) c.199G>A (p.Asp67Asn) c.586G>A (p.Asp196Asn) c.583G>A (p.Asp195Asn) c.127G>A (p.Asp43Asn) | gnomAD v4 |
| 10 | g.113089430G>C | CA378532647 | TCF7L2 | c.483+49304G>C (n.483+49304G>C) c.552+49304G>C (n.552+49304G>C) c.514G>C (p.Asp172His) c.424G>C (p.Asp142His) c.517G>C (p.Asp173His) c.382-51754G>C (n.382-51754G>C) c.199G>C (p.Asp67His) c.586G>C (p.Asp196His) c.583G>C (p.Asp195His) c.127G>C (p.Asp43His) | |
| 10 | g.113089430G>T | CA378532646 | TCF7L2 | c.483+49304G>T (n.483+49304G>T) c.552+49304G>T (n.552+49304G>T) c.514G>T (p.Asp172Tyr) c.424G>T (p.Asp142Tyr) c.517G>T (p.Asp173Tyr) c.382-51754G>T (n.382-51754G>T) c.199G>T (p.Asp67Tyr) c.586G>T (p.Asp196Tyr) c.583G>T (p.Asp195Tyr) c.127G>T (p.Asp43Tyr) | |
| 10 | g.113089431A>C | CA378532648 | TCF7L2 | c.483+49305A>C (n.483+49305A>C) c.552+49305A>C (n.552+49305A>C) c.515A>C (p.Asp172Ala) c.425A>C (p.Asp142Ala) c.518A>C (p.Asp173Ala) c.382-51753A>C (n.382-51753A>C) c.200A>C (p.Asp67Ala) c.587A>C (p.Asp196Ala) c.584A>C (p.Asp195Ala) c.128A>C (p.Asp43Ala) | |
| 10 | g.113089431A>G | CA378532650 | TCF7L2 | c.483+49305A>G (n.483+49305A>G) c.552+49305A>G (n.552+49305A>G) c.515A>G (p.Asp172Gly) c.425A>G (p.Asp142Gly) c.518A>G (p.Asp173Gly) c.382-51753A>G (n.382-51753A>G) c.200A>G (p.Asp67Gly) c.587A>G (p.Asp196Gly) c.584A>G (p.Asp195Gly) c.128A>G (p.Asp43Gly) | COSMIC |
| 10 | g.113089431A>T | CA378532649 | TCF7L2 | c.483+49305A>T (n.483+49305A>T) c.552+49305A>T (n.552+49305A>T) c.515A>T (p.Asp172Val) c.425A>T (p.Asp142Val) c.518A>T (p.Asp173Val) c.382-51753A>T (n.382-51753A>T) c.200A>T (p.Asp67Val) c.587A>T (p.Asp196Val) c.584A>T (p.Asp195Val) c.128A>T (p.Asp43Val) | |
| 10 | g.113089432C>A | CA378532651 | TCF7L2 | c.483+49306C>A (n.483+49306C>A) c.552+49306C>A (n.552+49306C>A) c.516C>A (p.Asp172Glu) c.426C>A (p.Asp142Glu) c.519C>A (p.Asp173Glu) c.382-51752C>A (n.382-51752C>A) c.201C>A (p.Asp67Glu) c.588C>A (p.Asp196Glu) c.585C>A (p.Asp195Glu) c.129C>A (p.Asp43Glu) | |
| 10 | g.113089432C>G | CA378532652 | TCF7L2 | c.483+49306C>G (n.483+49306C>G) c.552+49306C>G (n.552+49306C>G) c.516C>G (p.Asp172Glu) c.426C>G (p.Asp142Glu) c.519C>G (p.Asp173Glu) c.382-51752C>G (n.382-51752C>G) c.201C>G (p.Asp67Glu) c.588C>G (p.Asp196Glu) c.585C>G (p.Asp195Glu) c.129C>G (p.Asp43Glu) | |
| 10 | g.113089433T>A | CA378532653 | TCF7L2 | c.483+49307T>A (n.483+49307T>A) c.552+49307T>A (n.552+49307T>A) c.517T>A (p.Cys173Ser) c.427T>A (p.Cys143Ser) c.520T>A (p.Cys174Ser) c.382-51751T>A (n.382-51751T>A) c.202T>A (p.Cys68Ser) c.589T>A (p.Cys197Ser) c.586T>A (p.Cys196Ser) c.130T>A (p.Cys44Ser) | |
| 10 | g.113089433T>C | CA378532654 | TCF7L2 | c.483+49307T>C (n.483+49307T>C) c.552+49307T>C (n.552+49307T>C) c.517T>C (p.Cys173Arg) c.427T>C (p.Cys143Arg) c.520T>C (p.Cys174Arg) c.382-51751T>C (n.382-51751T>C) c.202T>C (p.Cys68Arg) c.589T>C (p.Cys197Arg) c.586T>C (p.Cys196Arg) c.130T>C (p.Cys44Arg) | |
| 10 | g.113089433T>G | CA378532655 | TCF7L2 | c.483+49307T>G (n.483+49307T>G) c.552+49307T>G (n.552+49307T>G) c.517T>G (p.Cys173Gly) c.427T>G (p.Cys143Gly) c.520T>G (p.Cys174Gly) c.382-51751T>G (n.382-51751T>G) c.202T>G (p.Cys68Gly) c.589T>G (p.Cys197Gly) c.586T>G (p.Cys196Gly) c.130T>G (p.Cys44Gly) | |
| 10 | g.113089434G>A | CA378532656 | TCF7L2 | c.483+49308G>A (n.483+49308G>A) c.552+49308G>A (n.552+49308G>A) c.518G>A (p.Cys173Tyr) c.428G>A (p.Cys143Tyr) c.521G>A (p.Cys174Tyr) c.382-51750G>A (n.382-51750G>A) c.203G>A (p.Cys68Tyr) c.590G>A (p.Cys197Tyr) c.587G>A (p.Cys196Tyr) c.131G>A (p.Cys44Tyr) | |
| 10 | g.113089434G>C | CA378532657 | TCF7L2 | c.483+49308G>C (n.483+49308G>C) c.552+49308G>C (n.552+49308G>C) c.518G>C (p.Cys173Ser) c.428G>C (p.Cys143Ser) c.521G>C (p.Cys174Ser) c.382-51750G>C (n.382-51750G>C) c.203G>C (p.Cys68Ser) c.590G>C (p.Cys197Ser) c.587G>C (p.Cys196Ser) c.131G>C (p.Cys44Ser) |