| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41410717T>A | CA406004700 | BCKDHA | c.189T>A (p.Asp63Glu) c.123T>A (p.Asp41Glu) n.209T>A c.291T>A (p.Asp97Glu) n.431T>A | |
| 19 | g.41410717T>C | CA507555420 | BCKDHA | c.189T>C (p.Asp63=) c.123T>C (p.Asp41=) n.209T>C c.291T>C (p.Asp97=) n.431T>C | |
| 19 | g.41410717T>G | CA406004701 | BCKDHA | c.189T>G (p.Asp63Glu) c.123T>G (p.Asp41Glu) n.209T>G c.291T>G (p.Asp97Glu) n.431T>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41410717T= | CA2336453792 | BCKDHA | c.189T= (p.Asp63=) c.123T= (p.Asp41=) n.209T= c.291T= (p.Asp97=) n.431T= | |
| 19 | g.41410718A>C | CA406004702 | BCKDHA | c.190A>C (p.Lys64Gln) c.124A>C (p.Lys42Gln) n.210A>C c.292A>C (p.Lys98Gln) n.432A>C | |
| 19 | g.41410718A>G | CA406004703 | BCKDHA | c.190A>G (p.Lys64Glu) c.124A>G (p.Lys42Glu) n.210A>G c.292A>G (p.Lys98Glu) n.432A>G | |
| 19 | g.41410718A>T | CA406004704 | BCKDHA | c.190A>T (p.Lys64Ter) c.124A>T (p.Lys42Ter) n.210A>T c.292A>T (p.Lys98Ter) n.432A>T | |
| 19 | g.41410719A= | CA2336453793 | BCKDHA | c.191A= (p.Lys64=) c.125A= (p.Lys42=) n.211A= c.293A= (p.Lys98=) n.433A= | |
| 19 | g.41410719A>C | CA406004706 | BCKDHA | c.191A>C (p.Lys64Thr) c.125A>C (p.Lys42Thr) n.211A>C c.293A>C (p.Lys98Thr) n.433A>C | dbSNP |
| 19 | g.41410719A>G | CA406004707 | BCKDHA | c.191A>G (p.Lys64Arg) c.125A>G (p.Lys42Arg) n.211A>G c.293A>G (p.Lys98Arg) n.433A>G | |
| 19 | g.41410719A>T | CA406004705 | BCKDHA | c.191A>T (p.Lys64Met) c.125A>T (p.Lys42Met) n.211A>T c.293A>T (p.Lys98Met) n.433A>T | |
| 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 | 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 |