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 |
|---|---|---|---|---|---|
| 19 | g.41410720G>A | CA9461022 | BCKDHA | c.192G>A (p.Lys64=) c.126G>A (p.Lys42=) n.212G>A c.294G>A (p.Lys98=) n.434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41410720G>C | CA406004708 | BCKDHA | c.192G>C (p.Lys64Asn) c.126G>C (p.Lys42Asn) n.212G>C c.294G>C (p.Lys98Asn) n.434G>C | |
| 19 | g.41410720G= | CA2336453794 | BCKDHA | c.192G= (p.Lys64=) c.126G= (p.Lys42=) n.212G= c.294G= (p.Lys98=) n.434G= | |
| 19 | g.41410720G>T | CA406004709 | BCKDHA | c.192G>T (p.Lys64Asn) c.126G>T (p.Lys42Asn) n.212G>T c.294G>T (p.Lys98Asn) n.434G>T | |
| 19 | g.41410721T>A | CA406004710 | BCKDHA | c.193T>A (p.Leu65Met) c.127T>A (p.Leu43Met) n.213T>A c.295T>A (p.Leu99Met) n.435T>A | |
| 19 | g.41410721T>C | CA507555422 | BCKDHA | c.193T>C (p.Leu65=) c.127T>C (p.Leu43=) n.213T>C c.295T>C (p.Leu99=) n.435T>C | |
| 19 | g.41410721T>G | CA406004711 | BCKDHA | c.193T>G (p.Leu65Val) c.127T>G (p.Leu43Val) n.213T>G c.295T>G (p.Leu99Val) n.435T>G | |
| 19 | g.41410722T>A | CA406004714 | BCKDHA | c.194T>A (p.Leu65Ter) c.128T>A (p.Leu43Ter) n.214T>A c.296T>A (p.Leu99Ter) c.1T>A n.436T>A | |
| 19 | g.41410722T>C | CA406004712 | BCKDHA | c.194T>C (p.Leu65Ser) c.128T>C (p.Leu43Ser) n.214T>C c.296T>C (p.Leu99Ser) c.1T>C n.436T>C | |
| 19 | g.41410722T>G | CA406004713 | BCKDHA | c.194T>G (p.Leu65Trp) c.128T>G (p.Leu43Trp) n.214T>G c.296T>G (p.Leu99Trp) c.1T>G n.436T>G | |
| 19 | g.41410723G>A | CA507555426 | BCKDHA | c.195G>A (p.Leu65=) c.129G>A (p.Leu43=) n.215G>A c.297G>A (p.Leu99=) c.2G>A n.437G>A | |
| 19 | g.41410723G>C | CA406004715 | BCKDHA | c.195G>C (p.Leu65Phe) c.129G>C (p.Leu43Phe) n.215G>C c.297G>C (p.Leu99Phe) c.2G>C n.437G>C | |
| 19 | g.41410723G>T | CA406004716 | BCKDHA | c.195G>T (p.Leu65Phe) c.129G>T (p.Leu43Phe) n.215G>T c.297G>T (p.Leu99Phe) c.2G>T n.437G>T | |
| 19 | g.41410724G>A | CA406004717 | BCKDHA | c.196G>A (p.Glu66Lys) c.130G>A (p.Glu44Lys) n.216G>A c.298G>A (p.Glu100Lys) c.3G>A n.438G>A | |
| 19 | g.41410724G>C | CA406004718 | BCKDHA | c.196G>C (p.Glu66Gln) c.130G>C (p.Glu44Gln) n.216G>C c.298G>C (p.Glu100Gln) c.3G>C n.438G>C | |
| 19 | g.41410724G= | CA2336453795 | BCKDHA | c.196G= (p.Glu66=) c.130G= (p.Glu44=) n.216G= c.298G= (p.Glu100=) c.3G= n.438G= | |
| 19 | g.41410724G>T | CA406004719 | BCKDHA | c.196G>T (p.Glu66Ter) c.130G>T (p.Glu44Ter) n.216G>T c.298G>T (p.Glu100Ter) c.3G>T n.438G>T | ClinVar dbSNP |
| 19 | g.41410725A>C | CA406004722 | BCKDHA | c.197A>C (p.Glu66Ala) c.131A>C (p.Glu44Ala) n.217A>C c.299A>C (p.Glu100Ala) c.4A>C n.439A>C | |
| 19 | g.41410725A>G | CA406004721 | BCKDHA | c.197A>G (p.Glu66Gly) c.131A>G (p.Glu44Gly) n.217A>G c.299A>G (p.Glu100Gly) c.4A>G n.439A>G | |
| 19 | g.41410725A>T | CA406004720 | BCKDHA | c.197A>T (p.Glu66Val) c.131A>T (p.Glu44Val) n.217A>T c.299A>T (p.Glu100Val) c.4A>T n.439A>T | |
| 19 | g.41410726A= | CA2336453796 | BCKDHA | c.198A= (p.Glu66=) c.132A= (p.Glu44=) n.218A= c.300A= (p.Glu100=) c.5A= n.440A= | |
| 19 | g.41410726A>C | CA406004723 | BCKDHA | c.198A>C (p.Glu66Asp) c.132A>C (p.Glu44Asp) n.218A>C c.300A>C (p.Glu100Asp) c.5A>C n.440A>C | |
| 19 | g.41410726A>G | CA507555427 | BCKDHA | c.198A>G (p.Glu66=) c.132A>G (p.Glu44=) n.218A>G c.300A>G (p.Glu100=) c.5A>G n.440A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41410726A>T | CA406004724 | BCKDHA | c.198A>T (p.Glu66Asp) c.132A>T (p.Glu44Asp) n.218A>T c.300A>T (p.Glu100Asp) c.5A>T n.440A>T | |
| 19 | g.41410727T>A | CA406004725 | BCKDHA | c.199T>A (p.Phe67Ile) c.133T>A (p.Phe45Ile) n.219T>A c.301T>A (p.Phe101Ile) c.6T>A n.441T>A | |
| 19 | g.41410727T>C | CA406004727 | BCKDHA | c.199T>C (p.Phe67Leu) c.133T>C (p.Phe45Leu) n.219T>C c.301T>C (p.Phe101Leu) c.6T>C n.441T>C | |
| 19 | g.41410727T>G | CA406004726 | BCKDHA | c.199T>G (p.Phe67Val) c.133T>G (p.Phe45Val) n.219T>G c.301T>G (p.Phe101Val) c.6T>G n.441T>G | |
| 19 | g.41410728T>A | CA406004728 | BCKDHA | c.200T>A (p.Phe67Tyr) c.134T>A (p.Phe45Tyr) n.220T>A c.302T>A (p.Phe101Tyr) c.7T>A n.442T>A | |
| 19 | g.41410728T>C | CA406004730 | BCKDHA | c.200T>C (p.Phe67Ser) c.134T>C (p.Phe45Ser) n.220T>C c.302T>C (p.Phe101Ser) c.7T>C n.442T>C | |
| 19 | g.41410728T>G | CA406004729 | BCKDHA | c.200T>G (p.Phe67Cys) c.134T>G (p.Phe45Cys) n.220T>G c.302T>G (p.Phe101Cys) c.7T>G n.442T>G | |
| 19 | g.41410729C>A | CA406004731 | BCKDHA | c.201C>A (p.Phe67Leu) c.135C>A (p.Phe45Leu) n.221C>A c.303C>A (p.Phe101Leu) c.8C>A n.443C>A | |
| 19 | g.41410729C>G | CA406004732 | BCKDHA | c.201C>G (p.Phe67Leu) c.135C>G (p.Phe45Leu) n.221C>G c.303C>G (p.Phe101Leu) c.8C>G n.443C>G | |
| 19 | g.41410729C>T | CA507555430 | BCKDHA | c.201C>T (p.Phe67=) c.135C>T (p.Phe45=) n.221C>T c.303C>T (p.Phe101=) c.8C>T n.443C>T | |
| 19 | g.41410730A= | CA2336453797 | BCKDHA | c.202A= (p.Ile68=) c.136A= (p.Ile46=) n.222A= c.304A= (p.Ile102=) c.9A= n.444A= | |
| 19 | g.41410730A>C | CA406004733 | BCKDHA | c.202A>C (p.Ile68Leu) c.136A>C (p.Ile46Leu) n.222A>C c.304A>C (p.Ile102Leu) c.9A>C n.444A>C | |
| 19 | g.41410730A>G | CA9461023 | BCKDHA | c.202A>G (p.Ile68Val) c.136A>G (p.Ile46Val) n.222A>G c.304A>G (p.Ile102Val) c.9A>G n.444A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41410730A>T | CA406004734 | BCKDHA | c.202A>T (p.Ile68Phe) c.136A>T (p.Ile46Phe) n.222A>T c.304A>T (p.Ile102Phe) c.9A>T n.444A>T | |
| 19 | g.41410731T>A | CA9461024 | BCKDHA | c.203T>A (p.Ile68Asn) c.137T>A (p.Ile46Asn) n.223T>A c.305T>A (p.Ile102Asn) c.10T>A n.445T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41410731T>C | CA406004735 | BCKDHA | c.203T>C (p.Ile68Thr) c.137T>C (p.Ile46Thr) n.223T>C c.305T>C (p.Ile102Thr) c.10T>C n.445T>C | |
| 19 | g.41410731T>G | CA406004736 | BCKDHA | c.203T>G (p.Ile68Ser) c.137T>G (p.Ile46Ser) n.223T>G c.305T>G (p.Ile102Ser) c.10T>G n.445T>G | |
| 19 | g.41410731T= | CA2336453798 | BCKDHA | c.203T= (p.Ile68=) c.137T= (p.Ile46=) n.223T= c.305T= (p.Ile102=) c.10T= n.445T= | |
| 19 | g.41410732C>A | CA507555433 | BCKDHA | c.204C>A (p.Ile68=) c.138C>A (p.Ile46=) n.224C>A c.306C>A (p.Ile102=) c.11C>A n.446C>A | ClinVar dbSNP |
| 19 | g.41410732C>G | CA406004737 | BCKDHA | c.204C>G (p.Ile68Met) c.138C>G (p.Ile46Met) n.224C>G c.306C>G (p.Ile102Met) c.11C>G n.446C>G | |
| 19 | g.41410732C>T | CA507555435 | BCKDHA | c.204C>T (p.Ile68=) c.138C>T (p.Ile46=) n.224C>T c.306C>T (p.Ile102=) c.11C>T n.446C>T | |
| 19 | g.41410733C>A | CA406004738 | BCKDHA | c.205C>A (p.Gln69Lys) c.139C>A (p.Gln47Lys) n.225C>A c.307C>A (p.Gln103Lys) c.12C>A n.447C>A | |
| 19 | g.41410733C>G | CA406004739 | BCKDHA | c.205C>G (p.Gln69Glu) c.139C>G (p.Gln47Glu) n.225C>G c.307C>G (p.Gln103Glu) c.12C>G n.447C>G | |
| 19 | g.41410733C>T | CA406004740 | BCKDHA | c.205C>T (p.Gln69Ter) c.139C>T (p.Gln47Ter) n.225C>T c.307C>T (p.Gln103Ter) c.12C>T n.447C>T | |
| 19 | g.41410734A>C | CA406004741 | BCKDHA | c.206A>C (p.Gln69Pro) c.140A>C (p.Gln47Pro) n.226A>C c.308A>C (p.Gln103Pro) c.13A>C n.448A>C | |
| 19 | g.41410734A>G | CA406004742 | BCKDHA | c.206A>G (p.Gln69Arg) c.140A>G (p.Gln47Arg) n.226A>G c.308A>G (p.Gln103Arg) c.13A>G n.448A>G | |
| 19 | g.41410734A>T | CA406004743 | BCKDHA | c.206A>T (p.Gln69Leu) c.140A>T (p.Gln47Leu) n.226A>T c.308A>T (p.Gln103Leu) c.13A>T n.448A>T |