Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422162A>CCA406012654BCKDHAc.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
19g.41422162A>GCA406012655BCKDHAc.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
19g.41422162A>TCA406012656BCKDHAc.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
19g.41422163G>ACA406012657BCKDHAc.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
19g.41422163G>CCA9461229BCKDHAc.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
19g.41422163G=CA2336458975BCKDHAc.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=
19g.41422163G>TCA406012658BCKDHAc.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
19g.41422164C>ACA406012659BCKDHAc.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
19g.41422164C=CA2336458976BCKDHAc.647C= (p.Ala216=)
c.581C= (p.Ala194=)
n.276C=
n.773C=
c.749C= (p.Ala250=)
c.547C=
c.560C= (p.Ala187=)
n.275C=
19g.41422164C>GCA406012660BCKDHAc.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
19g.41422164C>TCA9461230BCKDHAc.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
19g.41422165G>ACA9461232BCKDHAc.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
19g.41422165G>CCA507690282BCKDHAc.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
19g.41422165G=CA2336458977BCKDHAc.648G= (p.Ala216=)
c.582G= (p.Ala194=)
n.277G=
n.774G=
c.750G= (p.Ala250=)
c.548G=
c.561G= (p.Ala187=)
n.276G=
19g.41422165G>TCA9461231BCKDHAc.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
19g.41422166G>ACA406012661BCKDHAc.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
19g.41422166G>CCA406012662BCKDHAc.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
19g.41422166G>TCA406012663BCKDHAc.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
19g.41422167T>ACA406012664BCKDHAc.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
19g.41422167T>CCA406012665BCKDHAc.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
19g.41422167T>GCA406012666BCKDHAc.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
19g.41422168G>ACA507690292BCKDHAc.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
19g.41422168G>CCA507690293BCKDHAc.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
19g.41422168G=CA2336458978BCKDHAc.651G= (p.Val217=)
c.585G= (p.Val195=)
n.280G=
n.777G=
c.753G= (p.Val251=)
c.551G=
c.564G= (p.Val188=)
n.279G=
19g.41422168G>TCA507690294BCKDHAc.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
19g.41422172delCA2576793826BCKDHAc.655del (p.Ala219ArgfsTer?)
c.589del (p.Ala197ArgfsTer?)
n.284del
n.781del
c.757del (p.Ala253ArgfsTer?)
c.555del
c.568del (p.Ala190ArgfsTer?)
n.283del
ClinVar
19g.41422169G>ACA406012667BCKDHAc.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
19g.41422169G>CCA406012668BCKDHAc.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
19g.41422169G>TCA406012669BCKDHAc.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
19g.41422170G>ACA406012672BCKDHAc.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
19g.41422170G>CCA406012671BCKDHAc.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
19g.41422170G=CA2336458979BCKDHAc.653G= (p.Gly218=)
c.587G= (p.Gly196=)
n.282G=
n.779G=
c.755G= (p.Gly252=)
c.553G=
c.566G= (p.Gly189=)
n.281G=
19g.41422170G>TCA406012670BCKDHAc.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
19g.41422171G>ACA507690302BCKDHAc.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
19g.41422171G>CCA507690304BCKDHAc.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
19g.41422171G>TCA507690303BCKDHAc.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
19g.41422172G>ACA406012675BCKDHAc.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
19g.41422172G>CCA406012673BCKDHAc.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
19g.41422172G>TCA406012674BCKDHAc.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
19g.41422173C>ACA9461234BCKDHAc.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
19g.41422173C=CA2336458980BCKDHAc.656C= (p.Ala219=)
c.590C= (p.Ala197=)
n.285C=
n.782C=
c.758C= (p.Ala253=)
c.556C=
c.569C= (p.Ala190=)
n.284C=
19g.41422173C>GCA406012676BCKDHAc.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
19g.41422173C>TCA9461233BCKDHAc.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
19g.41422174G>ACA9461235BCKDHAc.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
19g.41422174G>CCA507690310BCKDHAc.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
19g.41422174G=CA2336458981BCKDHAc.657G= (p.Ala219=)
c.591G= (p.Ala197=)
n.286G=
n.783G=
c.759G= (p.Ala253=)
c.557G=
c.570G= (p.Ala190=)
n.285G=
19g.41422174G>TCA507690311BCKDHAc.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
19g.41422175G>ACA406012677BCKDHAc.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
19g.41422175G>CCA406012678BCKDHAc.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
19g.41422175G>TCA406012679BCKDHAc.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

Number of alleles fetched