Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422162A>C | CA406012654 | BCKDHA | c.647-2A>C (n.647-2A>C) c.581-2A>C (n.581-2A>C) n.276-2A>C n.773-2A>C c.749-2A>C (n.749-2A>C) c.547-2A>C c.560-2A>C (n.560-2A>C) n.275-2A>C | |
19 | g.41422162A>G | CA406012655 | BCKDHA | c.647-2A>G (n.647-2A>G) c.581-2A>G (n.581-2A>G) n.276-2A>G n.773-2A>G c.749-2A>G (n.749-2A>G) c.547-2A>G c.560-2A>G (n.560-2A>G) n.275-2A>G | |
19 | g.41422162A>T | CA406012656 | BCKDHA | c.647-2A>T (n.647-2A>T) c.581-2A>T (n.581-2A>T) n.276-2A>T n.773-2A>T c.749-2A>T (n.749-2A>T) c.547-2A>T c.560-2A>T (n.560-2A>T) n.275-2A>T | |
19 | g.41422163G>A | CA406012657 | BCKDHA | c.647-1G>A (n.647-1G>A) c.581-1G>A (n.581-1G>A) n.276-1G>A n.773-1G>A c.749-1G>A (n.749-1G>A) c.547-1G>A c.560-1G>A (n.560-1G>A) n.275-1G>A | |
19 | g.41422163G>C | CA9461229 | BCKDHA | c.647-1G>C (n.647-1G>C) c.581-1G>C (n.581-1G>C) n.276-1G>C n.773-1G>C c.749-1G>C (n.749-1G>C) c.547-1G>C c.560-1G>C (n.560-1G>C) n.275-1G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422163G= | CA2336458975 | BCKDHA | c.647-1G= (n.647-1G=) c.581-1G= (n.581-1G=) n.276-1G= n.773-1G= c.749-1G= (n.749-1G=) c.547-1G= c.560-1G= (n.560-1G=) n.275-1G= | |
19 | g.41422163G>T | CA406012658 | BCKDHA | c.647-1G>T (n.647-1G>T) c.581-1G>T (n.581-1G>T) n.276-1G>T n.773-1G>T c.749-1G>T (n.749-1G>T) c.547-1G>T c.560-1G>T (n.560-1G>T) n.275-1G>T | |
19 | g.41422164C>A | CA406012659 | BCKDHA | c.647C>A (p.Ala216Glu) c.581C>A (p.Ala194Glu) n.276C>A n.773C>A c.749C>A (p.Ala250Glu) c.547C>A c.560C>A (p.Ala187Glu) n.275C>A | |
19 | g.41422164C= | CA2336458976 | BCKDHA | c.647C= (p.Ala216=) c.581C= (p.Ala194=) n.276C= n.773C= c.749C= (p.Ala250=) c.547C= c.560C= (p.Ala187=) n.275C= | |
19 | g.41422164C>G | CA406012660 | BCKDHA | c.647C>G (p.Ala216Gly) c.581C>G (p.Ala194Gly) n.276C>G n.773C>G c.749C>G (p.Ala250Gly) c.547C>G c.560C>G (p.Ala187Gly) n.275C>G | |
19 | g.41422164C>T | CA9461230 | BCKDHA | c.647C>T (p.Ala216Val) c.581C>T (p.Ala194Val) n.276C>T n.773C>T c.749C>T (p.Ala250Val) c.547C>T c.560C>T (p.Ala187Val) n.275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422165G>A | CA9461232 | BCKDHA | c.648G>A (p.Ala216=) c.582G>A (p.Ala194=) n.277G>A n.774G>A c.750G>A (p.Ala250=) c.548G>A c.561G>A (p.Ala187=) n.276G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422165G>C | CA507690282 | BCKDHA | c.648G>C (p.Ala216=) c.582G>C (p.Ala194=) n.277G>C n.774G>C c.750G>C (p.Ala250=) c.548G>C c.561G>C (p.Ala187=) n.276G>C | ClinVar gnomAD v4 |
19 | g.41422165G= | CA2336458977 | BCKDHA | c.648G= (p.Ala216=) c.582G= (p.Ala194=) n.277G= n.774G= c.750G= (p.Ala250=) c.548G= c.561G= (p.Ala187=) n.276G= | |
19 | g.41422165G>T | CA9461231 | BCKDHA | c.648G>T (p.Ala216=) c.582G>T (p.Ala194=) n.277G>T n.774G>T c.750G>T (p.Ala250=) c.548G>T c.561G>T (p.Ala187=) n.276G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422166G>A | CA406012661 | BCKDHA | c.649G>A (p.Val217Met) c.583G>A (p.Val195Met) n.278G>A n.775G>A c.751G>A (p.Val251Met) c.549G>A c.562G>A (p.Val188Met) n.277G>A | |
19 | g.41422166G>C | CA406012662 | BCKDHA | c.649G>C (p.Val217Leu) c.583G>C (p.Val195Leu) n.278G>C n.775G>C c.751G>C (p.Val251Leu) c.549G>C c.562G>C (p.Val188Leu) n.277G>C | |
19 | g.41422166G>T | CA406012663 | BCKDHA | c.649G>T (p.Val217Leu) c.583G>T (p.Val195Leu) n.278G>T n.775G>T c.751G>T (p.Val251Leu) c.549G>T c.562G>T (p.Val188Leu) n.277G>T | |
19 | g.41422167T>A | CA406012664 | BCKDHA | c.650T>A (p.Val217Glu) c.584T>A (p.Val195Glu) n.279T>A n.776T>A c.752T>A (p.Val251Glu) c.550T>A c.563T>A (p.Val188Glu) n.278T>A | |
19 | g.41422167T>C | CA406012665 | BCKDHA | c.650T>C (p.Val217Ala) c.584T>C (p.Val195Ala) n.279T>C n.776T>C c.752T>C (p.Val251Ala) c.550T>C c.563T>C (p.Val188Ala) n.278T>C | |
19 | g.41422167T>G | CA406012666 | BCKDHA | c.650T>G (p.Val217Gly) c.584T>G (p.Val195Gly) n.279T>G n.776T>G c.752T>G (p.Val251Gly) c.550T>G c.563T>G (p.Val188Gly) n.278T>G | gnomAD v4 |
19 | g.41422168G>A | CA507690292 | BCKDHA | c.651G>A (p.Val217=) c.585G>A (p.Val195=) n.280G>A n.777G>A c.753G>A (p.Val251=) c.551G>A c.564G>A (p.Val188=) n.279G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422168G>C | CA507690293 | BCKDHA | c.651G>C (p.Val217=) c.585G>C (p.Val195=) n.280G>C n.777G>C c.753G>C (p.Val251=) c.551G>C c.564G>C (p.Val188=) n.279G>C | |
19 | g.41422168G= | CA2336458978 | BCKDHA | c.651G= (p.Val217=) c.585G= (p.Val195=) n.280G= n.777G= c.753G= (p.Val251=) c.551G= c.564G= (p.Val188=) n.279G= | |
19 | g.41422168G>T | CA507690294 | BCKDHA | c.651G>T (p.Val217=) c.585G>T (p.Val195=) n.280G>T n.777G>T c.753G>T (p.Val251=) c.551G>T c.564G>T (p.Val188=) n.279G>T | |
19 | g.41422172del | CA2576793826 | BCKDHA | c.655del (p.Ala219ArgfsTer?) c.589del (p.Ala197ArgfsTer?) n.284del n.781del c.757del (p.Ala253ArgfsTer?) c.555del c.568del (p.Ala190ArgfsTer?) n.283del | ClinVar |
19 | g.41422169G>A | CA406012667 | BCKDHA | c.652G>A (p.Gly218Arg) c.586G>A (p.Gly196Arg) n.281G>A n.778G>A c.754G>A (p.Gly252Arg) c.552G>A c.565G>A (p.Gly189Arg) n.280G>A | |
19 | g.41422169G>C | CA406012668 | BCKDHA | c.652G>C (p.Gly218Arg) c.586G>C (p.Gly196Arg) n.281G>C n.778G>C c.754G>C (p.Gly252Arg) c.552G>C c.565G>C (p.Gly189Arg) n.280G>C | |
19 | g.41422169G>T | CA406012669 | BCKDHA | c.652G>T (p.Gly218Trp) c.586G>T (p.Gly196Trp) n.281G>T n.778G>T c.754G>T (p.Gly252Trp) c.552G>T c.565G>T (p.Gly189Trp) n.280G>T | |
19 | g.41422170G>A | CA406012672 | BCKDHA | c.653G>A (p.Gly218Glu) c.587G>A (p.Gly196Glu) n.282G>A n.779G>A c.755G>A (p.Gly252Glu) c.553G>A c.566G>A (p.Gly189Glu) n.281G>A | |
19 | g.41422170G>C | CA406012671 | BCKDHA | c.653G>C (p.Gly218Ala) c.587G>C (p.Gly196Ala) n.282G>C n.779G>C c.755G>C (p.Gly252Ala) c.553G>C c.566G>C (p.Gly189Ala) n.281G>C | ClinVar dbSNP |
19 | g.41422170G= | CA2336458979 | BCKDHA | c.653G= (p.Gly218=) c.587G= (p.Gly196=) n.282G= n.779G= c.755G= (p.Gly252=) c.553G= c.566G= (p.Gly189=) n.281G= | |
19 | g.41422170G>T | CA406012670 | BCKDHA | c.653G>T (p.Gly218Val) c.587G>T (p.Gly196Val) n.282G>T n.779G>T c.755G>T (p.Gly252Val) c.553G>T c.566G>T (p.Gly189Val) n.281G>T | |
19 | g.41422171G>A | CA507690302 | BCKDHA | c.654G>A (p.Gly218=) c.588G>A (p.Gly196=) n.283G>A n.780G>A c.756G>A (p.Gly252=) c.554G>A c.567G>A (p.Gly189=) n.282G>A | |
19 | g.41422171G>C | CA507690304 | BCKDHA | c.654G>C (p.Gly218=) c.588G>C (p.Gly196=) n.283G>C n.780G>C c.756G>C (p.Gly252=) c.554G>C c.567G>C (p.Gly189=) n.282G>C | |
19 | g.41422171G>T | CA507690303 | BCKDHA | c.654G>T (p.Gly218=) c.588G>T (p.Gly196=) n.283G>T n.780G>T c.756G>T (p.Gly252=) c.554G>T c.567G>T (p.Gly189=) n.282G>T | |
19 | g.41422172G>A | CA406012675 | BCKDHA | c.655G>A (p.Ala219Thr) c.589G>A (p.Ala197Thr) n.284G>A n.781G>A c.757G>A (p.Ala253Thr) c.555G>A c.568G>A (p.Ala190Thr) n.283G>A | |
19 | g.41422172G>C | CA406012673 | BCKDHA | c.655G>C (p.Ala219Pro) c.589G>C (p.Ala197Pro) n.284G>C n.781G>C c.757G>C (p.Ala253Pro) c.555G>C c.568G>C (p.Ala190Pro) n.283G>C | |
19 | g.41422172G>T | CA406012674 | BCKDHA | c.655G>T (p.Ala219Ser) c.589G>T (p.Ala197Ser) n.284G>T n.781G>T c.757G>T (p.Ala253Ser) c.555G>T c.568G>T (p.Ala190Ser) n.283G>T | |
19 | g.41422173C>A | CA9461234 | BCKDHA | c.656C>A (p.Ala219Glu) c.590C>A (p.Ala197Glu) n.285C>A n.782C>A c.758C>A (p.Ala253Glu) c.556C>A c.569C>A (p.Ala190Glu) n.284C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422173C= | CA2336458980 | BCKDHA | c.656C= (p.Ala219=) c.590C= (p.Ala197=) n.285C= n.782C= c.758C= (p.Ala253=) c.556C= c.569C= (p.Ala190=) n.284C= | |
19 | g.41422173C>G | CA406012676 | BCKDHA | c.656C>G (p.Ala219Gly) c.590C>G (p.Ala197Gly) n.285C>G n.782C>G c.758C>G (p.Ala253Gly) c.556C>G c.569C>G (p.Ala190Gly) n.284C>G | |
19 | g.41422173C>T | CA9461233 | BCKDHA | c.656C>T (p.Ala219Val) c.590C>T (p.Ala197Val) n.285C>T n.782C>T c.758C>T (p.Ala253Val) c.556C>T c.569C>T (p.Ala190Val) n.284C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422174G>A | CA9461235 | BCKDHA | c.657G>A (p.Ala219=) c.591G>A (p.Ala197=) n.286G>A n.783G>A c.759G>A (p.Ala253=) c.557G>A c.570G>A (p.Ala190=) n.285G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422174G>C | CA507690310 | BCKDHA | c.657G>C (p.Ala219=) c.591G>C (p.Ala197=) n.286G>C n.783G>C c.759G>C (p.Ala253=) c.557G>C c.570G>C (p.Ala190=) n.285G>C | gnomAD v4 |
19 | g.41422174G= | CA2336458981 | BCKDHA | c.657G= (p.Ala219=) c.591G= (p.Ala197=) n.286G= n.783G= c.759G= (p.Ala253=) c.557G= c.570G= (p.Ala190=) n.285G= | |
19 | g.41422174G>T | CA507690311 | BCKDHA | c.657G>T (p.Ala219=) c.591G>T (p.Ala197=) n.286G>T n.783G>T c.759G>T (p.Ala253=) c.557G>T c.570G>T (p.Ala190=) n.285G>T | |
19 | g.41422175G>A | CA406012677 | BCKDHA | c.658G>A (p.Ala220Thr) c.592G>A (p.Ala198Thr) n.287G>A n.784G>A c.760G>A (p.Ala254Thr) c.558G>A c.571G>A (p.Ala191Thr) n.286G>A | |
19 | g.41422175G>C | CA406012678 | BCKDHA | c.658G>C (p.Ala220Pro) c.592G>C (p.Ala198Pro) n.287G>C n.784G>C c.760G>C (p.Ala254Pro) c.558G>C c.571G>C (p.Ala191Pro) n.286G>C | |
19 | g.41422175G>T | CA406012679 | BCKDHA | c.658G>T (p.Ala220Ser) c.592G>T (p.Ala198Ser) n.287G>T n.784G>T c.760G>T (p.Ala254Ser) c.558G>T c.571G>T (p.Ala191Ser) n.286G>T |