WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41414049G>A | CA406007580 | BCKDHA | c.376G>A (p.Gly126Ser) c.310G>A (p.Gly104Ser) n.502G>A c.478G>A (p.Gly160Ser) c.183G>A c.289G>A (p.Gly97Ser) | |
| 19 | g.41414049G>C | CA406007573 | BCKDHA | c.376G>C (p.Gly126Arg) c.310G>C (p.Gly104Arg) n.502G>C c.478G>C (p.Gly160Arg) c.183G>C c.289G>C (p.Gly97Arg) | |
| 19 | g.41414049G>T | CA406007575 | BCKDHA | c.376G>T (p.Gly126Cys) c.310G>T (p.Gly104Cys) n.502G>T c.478G>T (p.Gly160Cys) c.183G>T c.289G>T (p.Gly97Cys) | gnomAD v4 |
| 19 | g.41414050G>A | CA406007583 | BCKDHA | c.377G>A (p.Gly126Asp) c.311G>A (p.Gly104Asp) n.503G>A c.479G>A (p.Gly160Asp) c.184G>A c.290G>A (p.Gly97Asp) | |
| 19 | g.41414050G>C | CA406007587 | BCKDHA | c.377G>C (p.Gly126Ala) c.311G>C (p.Gly104Ala) n.503G>C c.479G>C (p.Gly160Ala) c.184G>C c.290G>C (p.Gly97Ala) | |
| 19 | g.41414050G>T | CA406007589 | BCKDHA | c.377G>T (p.Gly126Val) c.311G>T (p.Gly104Val) n.503G>T c.479G>T (p.Gly160Val) c.184G>T c.290G>T (p.Gly97Val) | |
| 19 | g.41414051C>A | CA507557455 | BCKDHA | c.378C>A (p.Gly126=) c.312C>A (p.Gly104=) n.504C>A c.480C>A (p.Gly160=) c.185C>A c.291C>A (p.Gly97=) | |
| 19 | g.41414051C>G | CA507557459 | BCKDHA | c.378C>G (p.Gly126=) c.312C>G (p.Gly104=) n.504C>G c.480C>G (p.Gly160=) c.185C>G c.291C>G (p.Gly97=) | |
| 19 | g.41414051C>T | CA507557461 | BCKDHA | c.378C>T (p.Gly126=) c.312C>T (p.Gly104=) n.504C>T c.480C>T (p.Gly160=) c.185C>T c.291C>T (p.Gly97=) | |
| 19 | g.41414052C>A | CA507557467 | BCKDHA | c.379C>A (p.Arg127=) c.313C>A (p.Arg105=) n.505C>A c.481C>A (p.Arg161=) c.186C>A c.292C>A (p.Arg98=) | |
| 19 | g.41414052C= | CA2336455315 | BCKDHA | c.379C= (p.Arg127=) c.313C= (p.Arg105=) n.505C= c.481C= (p.Arg161=) c.186C= c.292C= (p.Arg98=) | |
| 19 | g.41414052C>G | CA406007593 | BCKDHA | c.379C>G (p.Arg127Gly) c.313C>G (p.Arg105Gly) n.505C>G c.481C>G (p.Arg161Gly) c.186C>G c.292C>G (p.Arg98Gly) | |
| 19 | g.41414052C>T | CA9461126 | BCKDHA | c.379C>T (p.Arg127Trp) c.313C>T (p.Arg105Trp) n.505C>T c.481C>T (p.Arg161Trp) c.186C>T c.292C>T (p.Arg98Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41414053G>A | CA9461127 | BCKDHA | c.380G>A (p.Arg127Gln) c.314G>A (p.Arg105Gln) n.506G>A c.482G>A (p.Arg161Gln) c.187G>A c.293G>A (p.Arg98Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41414053G>C | CA406007600 | BCKDHA | c.380G>C (p.Arg127Pro) c.314G>C (p.Arg105Pro) n.506G>C c.482G>C (p.Arg161Pro) c.187G>C c.293G>C (p.Arg98Pro) | |
| 19 | g.41414053G= | CA2336455316 | BCKDHA | c.380G= (p.Arg127=) c.314G= (p.Arg105=) n.506G= c.482G= (p.Arg161=) c.187G= c.293G= (p.Arg98=) | |
| 19 | g.41414053G>T | CA406007603 | BCKDHA | c.380G>T (p.Arg127Leu) c.314G>T (p.Arg105Leu) n.506G>T c.482G>T (p.Arg161Leu) c.187G>T c.293G>T (p.Arg98Leu) | |
| 19 | g.41414054G>A | CA507557478 | BCKDHA | c.381G>A (p.Arg127=) c.315G>A (p.Arg105=) n.507G>A c.483G>A (p.Arg161=) c.188G>A c.294G>A (p.Arg98=) | |
| 19 | g.41414054G>C | CA507557481 | BCKDHA | c.381G>C (p.Arg127=) c.315G>C (p.Arg105=) n.507G>C c.483G>C (p.Arg161=) c.188G>C c.294G>C (p.Arg98=) | |
| 19 | g.41414054G>T | CA507557482 | BCKDHA | c.381G>T (p.Arg127=) c.315G>T (p.Arg105=) n.507G>T c.483G>T (p.Arg161=) c.188G>T c.294G>T (p.Arg98=) | |
| 19 | g.41414055A= | CA2336455317 | BCKDHA | c.382A= (p.Ile128=) c.316A= (p.Ile106=) n.508A= c.484A= (p.Ile162=) c.189A= c.295A= (p.Ile99=) | |
| 19 | g.41414055A>C | CA406007609 | BCKDHA | c.382A>C (p.Ile128Leu) c.316A>C (p.Ile106Leu) n.508A>C c.484A>C (p.Ile162Leu) c.189A>C c.295A>C (p.Ile99Leu) | |
| 19 | g.41414055A>G | CA9461128 | BCKDHA | c.382A>G (p.Ile128Val) c.316A>G (p.Ile106Val) n.508A>G c.484A>G (p.Ile162Val) c.189A>G c.295A>G (p.Ile99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41414055A>T | CA406007613 | BCKDHA | c.382A>T (p.Ile128Phe) c.316A>T (p.Ile106Phe) n.508A>T c.484A>T (p.Ile162Phe) c.189A>T c.295A>T (p.Ile99Phe) | |
| 19 | g.41414056T>A | CA406007621 | BCKDHA | c.383T>A (p.Ile128Asn) c.317T>A (p.Ile106Asn) n.509T>A c.485T>A (p.Ile162Asn) c.190T>A c.296T>A (p.Ile99Asn) | |
| 19 | g.41414056T>C | CA406007618 | BCKDHA | c.383T>C (p.Ile128Thr) c.317T>C (p.Ile106Thr) n.509T>C c.485T>C (p.Ile162Thr) c.190T>C c.296T>C (p.Ile99Thr) | |
| 19 | g.41414056T>G | CA406007616 | BCKDHA | c.383T>G (p.Ile128Ser) c.317T>G (p.Ile106Ser) n.509T>G c.485T>G (p.Ile162Ser) c.190T>G c.296T>G (p.Ile99Ser) | |
| 19 | g.41414057C>A | CA507557516 | BCKDHA | c.384C>A (p.Ile128=) c.318C>A (p.Ile106=) n.510C>A c.486C>A (p.Ile162=) c.191C>A c.297C>A (p.Ile99=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41414057C= | CA2336455318 | BCKDHA | c.384C= (p.Ile128=) c.318C= (p.Ile106=) n.510C= c.486C= (p.Ile162=) c.191C= c.297C= (p.Ile99=) | |
| 19 | g.41414057C>G | CA406007626 | BCKDHA | c.384C>G (p.Ile128Met) c.318C>G (p.Ile106Met) n.510C>G c.486C>G (p.Ile162Met) c.191C>G c.297C>G (p.Ile99Met) | |
| 19 | g.41414057C>T | CA507557511 | BCKDHA | c.384C>T (p.Ile128=) c.318C>T (p.Ile106=) n.510C>T c.486C>T (p.Ile162=) c.191C>T c.297C>T (p.Ile99=) | dbSNP |
| 19 | g.41414058T>A | CA406007637 | BCKDHA | c.385T>A (p.Ser129Thr) c.319T>A (p.Ser107Thr) n.511T>A c.487T>A (p.Ser163Thr) c.192T>A c.298T>A (p.Ser100Thr) | gnomAD v4 |
| 19 | g.41414058T>C | CA406007630 | BCKDHA | c.385T>C (p.Ser129Pro) c.319T>C (p.Ser107Pro) n.511T>C c.487T>C (p.Ser163Pro) c.192T>C c.298T>C (p.Ser100Pro) | |
| 19 | g.41414058T>G | CA406007633 | BCKDHA | c.385T>G (p.Ser129Ala) c.319T>G (p.Ser107Ala) n.511T>G c.487T>G (p.Ser163Ala) c.192T>G c.298T>G (p.Ser100Ala) | |
| 19 | g.41414059C>A | CA406007641 | BCKDHA | c.386C>A (p.Ser129Tyr) c.320C>A (p.Ser107Tyr) n.512C>A c.488C>A (p.Ser163Tyr) c.193C>A c.299C>A (p.Ser100Tyr) | |
| 19 | g.41414059C= | CA2336455319 | BCKDHA | c.386C= (p.Ser129=) c.320C= (p.Ser107=) n.512C= c.488C= (p.Ser163=) c.193C= c.299C= (p.Ser100=) | |
| 19 | g.41414059C>G | CA406007643 | BCKDHA | c.386C>G (p.Ser129Cys) c.320C>G (p.Ser107Cys) n.512C>G c.488C>G (p.Ser163Cys) c.193C>G c.299C>G (p.Ser100Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41414059C>T | CA406007648 | BCKDHA | c.386C>T (p.Ser129Phe) c.320C>T (p.Ser107Phe) n.512C>T c.488C>T (p.Ser163Phe) c.193C>T c.299C>T (p.Ser100Phe) | |
| 19 | g.41414060C>A | CA507557539 | BCKDHA | c.387C>A (p.Ser129=) c.321C>A (p.Ser107=) n.513C>A c.489C>A (p.Ser163=) c.194C>A c.300C>A (p.Ser100=) | |
| 19 | g.41414060C>G | CA507557541 | BCKDHA | c.387C>G (p.Ser129=) c.321C>G (p.Ser107=) n.513C>G c.489C>G (p.Ser163=) c.194C>G c.300C>G (p.Ser100=) | |
| 19 | g.41414060C>T | CA507557543 | BCKDHA | c.387C>T (p.Ser129=) c.321C>T (p.Ser107=) n.513C>T c.489C>T (p.Ser163=) c.194C>T c.300C>T (p.Ser100=) | ClinVar COSMIC |
| 19 | g.41414062_41414064del | CA2576793787 | BCKDHA | c.389_391del (p.Phe130del) c.323_325del (p.Phe108del) n.515_517del c.491_493del (p.Phe164del) c.196_198del c.302_304del (p.Phe101del) | |
| 19 | g.41414061T>A | CA406007652 | BCKDHA | c.388T>A (p.Phe130Ile) c.322T>A (p.Phe108Ile) n.514T>A c.490T>A (p.Phe164Ile) c.195T>A c.301T>A (p.Phe101Ile) | |
| 19 | g.41414061T>C | CA406007655 | BCKDHA | c.388T>C (p.Phe130Leu) c.322T>C (p.Phe108Leu) n.514T>C c.490T>C (p.Phe164Leu) c.195T>C c.301T>C (p.Phe101Leu) | |
| 19 | g.41414061T>G | CA406007658 | BCKDHA | c.388T>G (p.Phe130Val) c.322T>G (p.Phe108Val) n.514T>G c.490T>G (p.Phe164Val) c.195T>G c.301T>G (p.Phe101Val) | |
| 19 | g.41414062del | CA2576793788 | BCKDHA | c.389del (p.Phe130SerfsTer3) c.323del (p.Phe108SerfsTer3) n.515del c.491del (p.Phe164SerfsTer3) c.196del c.302del (p.Phe101SerfsTer3) | gnomAD v4 |
| 19 | g.41414062T>A | CA406007663 | BCKDHA | c.389T>A (p.Phe130Tyr) c.323T>A (p.Phe108Tyr) n.515T>A c.491T>A (p.Phe164Tyr) c.196T>A c.302T>A (p.Phe101Tyr) | |
| 19 | g.41414062T>C | CA406007665 | BCKDHA | c.389T>C (p.Phe130Ser) c.323T>C (p.Phe108Ser) n.515T>C c.491T>C (p.Phe164Ser) c.196T>C c.302T>C (p.Phe101Ser) | |
| 19 | g.41414062T>G | CA406007669 | BCKDHA | c.389T>G (p.Phe130Cys) c.323T>G (p.Phe108Cys) n.515T>G c.491T>G (p.Phe164Cys) c.196T>G c.302T>G (p.Phe101Cys) | |
| 19 | g.41414063C>A | CA406007671 | BCKDHA | c.390C>A (p.Phe130Leu) c.324C>A (p.Phe108Leu) n.516C>A c.492C>A (p.Phe164Leu) c.197C>A c.303C>A (p.Phe101Leu) |