Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.41422172dupCA2814427384BCKDHAc.655dup (p.Ala219GlyfsTer25)
c.589dup (p.Ala197GlyfsTer25)
n.284dup
n.781dup
c.757dup (p.Ala253GlyfsTer25)
c.555dup
c.568dup (p.Ala190GlyfsTer25)
n.283dup
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
 ClinVar 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
19g.41422175_41422179delinsGCGTACA2336458982BCKDHAc.658_662delinsGCGTA (p.Ala220=)
c.592_596delinsGCGTA (p.Ala198=)
n.287_291delinsGCGTA
n.784_788delinsGCGTA
c.760_764delinsGCGTA (p.Ala254=)
c.558_562delinsGCGTA
c.571_575delinsGCGTA (p.Ala191=)
n.286_290delinsGCGTA
19g.41422176delCA2580097290BCKDHAc.659del (p.Ala220GlyfsTer?)
c.593del (p.Ala198GlyfsTer?)
n.288del
n.785del
c.761del (p.Ala254GlyfsTer?)
c.559del
c.572del (p.Ala191GlyfsTer?)
n.287del
 ClinVar
19g.41422176C>ACA406012680BCKDHAc.659C>A (p.Ala220Glu)
c.593C>A (p.Ala198Glu)
n.288C>A
n.785C>A
c.761C>A (p.Ala254Glu)
c.559C>A
c.572C>A (p.Ala191Glu)
n.287C>A
19g.41422176C=CA2336458983BCKDHAc.659C= (p.Ala220=)
c.593C= (p.Ala198=)
n.288C=
n.785C=
c.761C= (p.Ala254=)
c.559C=
c.572C= (p.Ala191=)
n.287C=
19g.41422176C>GCA406012681BCKDHAc.659C>G (p.Ala220Gly)
c.593C>G (p.Ala198Gly)
n.288C>G
n.785C>G
c.761C>G (p.Ala254Gly)
c.559C>G
c.572C>G (p.Ala191Gly)
n.287C>G
19g.41422176C>TCA221207BCKDHAc.659C>T (p.Ala220Val)
c.593C>T (p.Ala198Val)
n.288C>T
n.785C>T
c.761C>T (p.Ala254Val)
c.559C>T
c.572C>T (p.Ala191Val)
n.287C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422178_41422181delCA312364BCKDHAc.661_664del (p.Tyr221GlnfsTer?)
c.595_598del (p.Tyr199GlnfsTer?)
n.290_293del
n.787_790del
c.763_766del (p.Tyr255GlnfsTer?)
c.561_564del
c.574_577del (p.Tyr192GlnfsTer?)
n.289_292del
 ClinVar dbSNP gnomAD v4
19g.41422177G>ACA9461236BCKDHAc.660G>A (p.Ala220=)
c.594G>A (p.Ala198=)
n.289G>A
n.786G>A
c.762G>A (p.Ala254=)
c.560G>A
c.573G>A (p.Ala191=)
n.288G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422177G>CCA507690318BCKDHAc.660G>C (p.Ala220=)
c.594G>C (p.Ala198=)
n.289G>C
n.786G>C
c.762G>C (p.Ala254=)
c.560G>C
c.573G>C (p.Ala191=)
n.288G>C
19g.41422177G=CA2336458984BCKDHAc.660G= (p.Ala220=)
c.594G= (p.Ala198=)
n.289G=
n.786G=
c.762G= (p.Ala254=)
c.560G=
c.573G= (p.Ala191=)
n.288G=
19g.41422177G>TCA507690317BCKDHAc.660G>T (p.Ala220=)
c.594G>T (p.Ala198=)
n.289G>T
n.786G>T
c.762G>T (p.Ala254=)
c.560G>T
c.573G>T (p.Ala191=)
n.288G>T
19g.41422178T>ACA406012683BCKDHAc.661T>A (p.Tyr221Asn)
c.595T>A (p.Tyr199Asn)
n.290T>A
n.787T>A
c.763T>A (p.Tyr255Asn)
c.561T>A
c.574T>A (p.Tyr192Asn)
n.289T>A
 gnomAD v4
19g.41422178T>CCA9461237BCKDHAc.661T>C (p.Tyr221His)
c.595T>C (p.Tyr199His)
n.290T>C
n.787T>C
c.763T>C (p.Tyr255His)
c.561T>C
c.574T>C (p.Tyr192His)
n.289T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422178T>GCA406012682BCKDHAc.661T>G (p.Tyr221Asp)
c.595T>G (p.Tyr199Asp)
n.290T>G
n.787T>G
c.763T>G (p.Tyr255Asp)
c.561T>G
c.574T>G (p.Tyr192Asp)
n.289T>G
19g.41422178T=CA2336458985BCKDHAc.661T= (p.Tyr221=)
c.595T= (p.Tyr199=)
n.290T=
n.787T=
c.763T= (p.Tyr255=)
c.561T=
c.574T= (p.Tyr192=)
n.289T=
19g.41422179A>CCA406012684BCKDHAc.662A>C (p.Tyr221Ser)
c.596A>C (p.Tyr199Ser)
n.291A>C
n.788A>C
c.764A>C (p.Tyr255Ser)
c.562A>C
c.575A>C (p.Tyr192Ser)
n.290A>C
19g.41422179A>GCA406012685BCKDHAc.662A>G (p.Tyr221Cys)
c.596A>G (p.Tyr199Cys)
n.291A>G
n.788A>G
c.764A>G (p.Tyr255Cys)
c.562A>G
c.575A>G (p.Tyr192Cys)
n.290A>G
19g.41422179A>TCA406012686BCKDHAc.662A>T (p.Tyr221Phe)
c.596A>T (p.Tyr199Phe)
n.291A>T
n.788A>T
c.764A>T (p.Tyr255Phe)
c.562A>T
c.575A>T (p.Tyr192Phe)
n.290A>T
19g.41422180delCA2573156391BCKDHAc.663del (p.Tyr221Ter)
c.597del (p.Tyr199Ter)
n.292del
n.789del
c.765del (p.Tyr255Ter)
c.563del
c.576del (p.Tyr192Ter)
n.291del
 ClinVar dbSNP
19g.41422180C>ACA406012687BCKDHAc.663C>A (p.Tyr221Ter)
c.597C>A (p.Tyr199Ter)
n.292C>A
n.789C>A
c.765C>A (p.Tyr255Ter)
c.563C>A
c.576C>A (p.Tyr192Ter)
n.291C>A
19g.41422180C=CA2336458986BCKDHAc.663C= (p.Tyr221=)
c.597C= (p.Tyr199=)
n.292C=
n.789C=
c.765C= (p.Tyr255=)
c.563C=
c.576C= (p.Tyr192=)
n.291C=
19g.41422180C>GCA406012688BCKDHAc.663C>G (p.Tyr221Ter)
c.597C>G (p.Tyr199Ter)
n.292C>G
n.789C>G
c.765C>G (p.Tyr255Ter)
c.563C>G
c.576C>G (p.Tyr192Ter)
n.291C>G
 gnomAD v4
19g.41422180C>TCA221208BCKDHAc.663C>T (p.Tyr221=)
c.597C>T (p.Tyr199=)
n.292C>T
n.789C>T
c.765C>T (p.Tyr255=)
c.563C>T
c.576C>T (p.Tyr192=)
n.291C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422181G>ACA9461238BCKDHAc.664G>A (p.Ala222Thr)
c.598G>A (p.Ala200Thr)
n.293G>A
n.790G>A
c.766G>A (p.Ala256Thr)
c.564G>A
c.577G>A (p.Ala193Thr)
n.292G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422181G>CCA406012689BCKDHAc.664G>C (p.Ala222Pro)
c.598G>C (p.Ala200Pro)
n.293G>C
n.790G>C
c.766G>C (p.Ala256Pro)
c.564G>C
c.577G>C (p.Ala193Pro)
n.292G>C
19g.41422181G=CA2336458987BCKDHAc.664G= (p.Ala222=)
c.598G= (p.Ala200=)
n.293G=
n.790G=
c.766G= (p.Ala256=)
c.564G=
c.577G= (p.Ala193=)
n.292G=
19g.41422181G>TCA406012690BCKDHAc.664G>T (p.Ala222Ser)
c.598G>T (p.Ala200Ser)
n.293G>T
n.790G>T
c.766G>T (p.Ala256Ser)
c.564G>T
c.577G>T (p.Ala193Ser)
n.292G>T
19g.41422182C>ACA406012691BCKDHAc.665C>A (p.Ala222Glu)
c.599C>A (p.Ala200Glu)
n.294C>A
n.791C>A
c.767C>A (p.Ala256Glu)
c.565C>A
c.578C>A (p.Ala193Glu)
n.293C>A
19g.41422182C>GCA406012692BCKDHAc.665C>G (p.Ala222Gly)
c.599C>G (p.Ala200Gly)
n.294C>G
n.791C>G
c.767C>G (p.Ala256Gly)
c.565C>G
c.578C>G (p.Ala193Gly)
n.293C>G
19g.41422182C>TCA406012693BCKDHAc.665C>T (p.Ala222Val)
c.599C>T (p.Ala200Val)
n.294C>T
n.791C>T
c.767C>T (p.Ala256Val)
c.565C>T
c.578C>T (p.Ala193Val)
n.293C>T
19g.41422183A>CCA507690329BCKDHAc.666A>C (p.Ala222=)
c.600A>C (p.Ala200=)
n.295A>C
n.792A>C
c.768A>C (p.Ala256=)
c.566A>C
c.579A>C (p.Ala193=)
n.294A>C
19g.41422183A>GCA507690331BCKDHAc.666A>G (p.Ala222=)
c.600A>G (p.Ala200=)
n.295A>G
n.792A>G
c.768A>G (p.Ala256=)
c.566A>G
c.579A>G (p.Ala193=)
n.294A>G
19g.41422183A>TCA507690333BCKDHAc.666A>T (p.Ala222=)
c.600A>T (p.Ala200=)
n.295A>T
n.792A>T
c.768A>T (p.Ala256=)
c.566A>T
c.579A>T (p.Ala193=)
n.294A>T
19g.41422184G>ACA406012695BCKDHAc.667G>A (p.Ala223Thr)
c.601G>A (p.Ala201Thr)
n.296G>A
n.793G>A
c.769G>A (p.Ala257Thr)
c.567G>A
c.580G>A (p.Ala194Thr)
n.295G>A
19g.41422184G>CCA406012696BCKDHAc.667G>C (p.Ala223Pro)
c.601G>C (p.Ala201Pro)
n.296G>C
n.793G>C
c.769G>C (p.Ala257Pro)
c.567G>C
c.580G>C (p.Ala194Pro)
n.295G>C
19g.41422184G>TCA406012694BCKDHAc.667G>T (p.Ala223Ser)
c.601G>T (p.Ala201Ser)
n.296G>T
n.793G>T
c.769G>T (p.Ala257Ser)
c.567G>T
c.580G>T (p.Ala194Ser)
n.295G>T
19g.41422185C>ACA406012697BCKDHAc.668C>A (p.Ala223Asp)
c.602C>A (p.Ala201Asp)
n.297C>A
n.794C>A
c.770C>A (p.Ala257Asp)
c.568C>A
c.581C>A (p.Ala194Asp)
n.296C>A
19g.41422185C>GCA406012699BCKDHAc.668C>G (p.Ala223Gly)
c.602C>G (p.Ala201Gly)
n.297C>G
n.794C>G
c.770C>G (p.Ala257Gly)
c.568C>G
c.581C>G (p.Ala194Gly)
n.296C>G
19g.41422185C>TCA406012698BCKDHAc.668C>T (p.Ala223Val)
c.602C>T (p.Ala201Val)
n.297C>T
n.794C>T
c.770C>T (p.Ala257Val)
c.568C>T
c.581C>T (p.Ala194Val)
n.296C>T
19g.41422186C>ACA507690341BCKDHAc.669C>A (p.Ala223=)
c.603C>A (p.Ala201=)
n.298C>A
n.795C>A
c.771C>A (p.Ala257=)
c.569C>A
c.582C>A (p.Ala194=)
n.297C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422186C=CA2336458988BCKDHAc.669C= (p.Ala223=)
c.603C= (p.Ala201=)
n.298C=
n.795C=
c.771C= (p.Ala257=)
c.569C=
c.582C= (p.Ala194=)
n.297C=
19g.41422186C>GCA507690342BCKDHAc.669C>G (p.Ala223=)
c.603C>G (p.Ala201=)
n.298C>G
n.795C>G
c.771C>G (p.Ala257=)
c.569C>G
c.582C>G (p.Ala194=)
n.297C>G
19g.41422186C>TCA507690340BCKDHAc.669C>T (p.Ala223=)
c.603C>T (p.Ala201=)
n.298C>T
n.795C>T
c.771C>T (p.Ala257=)
c.569C>T
c.582C>T (p.Ala194=)
n.297C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422187A=CA2336458989BCKDHAc.670A= (p.Lys224=)
c.604A= (p.Lys202=)
n.299A=
n.796A=
c.772A= (p.Lys258=)
c.570A=
c.583A= (p.Lys195=)
n.298A=
19g.41422187A>CCA406012700BCKDHAc.670A>C (p.Lys224Gln)
c.604A>C (p.Lys202Gln)
n.299A>C
n.796A>C
c.772A>C (p.Lys258Gln)
c.570A>C
c.583A>C (p.Lys195Gln)
n.298A>C
19g.41422187A>GCA406012701BCKDHAc.670A>G (p.Lys224Glu)
c.604A>G (p.Lys202Glu)
n.299A>G
n.796A>G
c.772A>G (p.Lys258Glu)
c.570A>G
c.583A>G (p.Lys195Glu)
n.298A>G
 dbSNP gnomAD v2 gnomAD v4
19g.41422187A>TCA406012702BCKDHAc.670A>T (p.Lys224Ter)
c.604A>T (p.Lys202Ter)
n.299A>T
n.796A>T
c.772A>T (p.Lys258Ter)
c.570A>T
c.583A>T (p.Lys195Ter)
n.298A>T
19g.41422188A=CA2336458990BCKDHAc.671A= (p.Lys224=)
c.605A= (p.Lys202=)
n.300A=
n.797A=
c.773A= (p.Lys258=)
c.571A=
c.584A= (p.Lys195=)
n.299A=
19g.41422188A>CCA406012703BCKDHAc.671A>C (p.Lys224Thr)
c.605A>C (p.Lys202Thr)
n.300A>C
n.797A>C
c.773A>C (p.Lys258Thr)
c.571A>C
c.584A>C (p.Lys195Thr)
n.299A>C
 dbSNP gnomAD v4
19g.41422188A>GCA406012704BCKDHAc.671A>G (p.Lys224Arg)
c.605A>G (p.Lys202Arg)
n.300A>G
n.797A>G
c.773A>G (p.Lys258Arg)
c.571A>G
c.584A>G (p.Lys195Arg)
n.299A>G
19g.41422188A>TCA406012705BCKDHAc.671A>T (p.Lys224Met)
c.605A>T (p.Lys202Met)
n.300A>T
n.797A>T
c.773A>T (p.Lys258Met)
c.571A>T
c.584A>T (p.Lys195Met)
n.299A>T
19g.41422189G>ACA507690348BCKDHAc.672G>A (p.Lys224=)
c.606G>A (p.Lys202=)
n.301G>A
n.798G>A
c.774G>A (p.Lys258=)
c.572G>A
c.585G>A (p.Lys195=)
n.300G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422189G>CCA406012706BCKDHAc.672G>C (p.Lys224Asn)
c.606G>C (p.Lys202Asn)
n.301G>C
n.798G>C
c.774G>C (p.Lys258Asn)
c.572G>C
c.585G>C (p.Lys195Asn)
n.300G>C
19g.41422189G=CA2336458991BCKDHAc.672G= (p.Lys224=)
c.606G= (p.Lys202=)
n.301G=
n.798G=
c.774G= (p.Lys258=)
c.572G=
c.585G= (p.Lys195=)
n.300G=
19g.41422189G>TCA406012707BCKDHAc.672G>T (p.Lys224Asn)
c.606G>T (p.Lys202Asn)
n.301G>T
n.798G>T
c.774G>T (p.Lys258Asn)
c.572G>T
c.585G>T (p.Lys195Asn)
n.300G>T
19g.41422190C>ACA507690351BCKDHAc.673C>A (p.Arg225=)
c.607C>A (p.Arg203=)
n.302C>A
n.799C>A
c.775C>A (p.Arg259=)
c.573C>A
c.586C>A (p.Arg196=)
n.301C>A
19g.41422190C=CA2336458993BCKDHAc.673C= (p.Arg225=)
c.607C= (p.Arg203=)
n.302C=
n.799C=
c.775C= (p.Arg259=)
c.573C=
c.586C= (p.Arg196=)
n.301C=
19g.41422190C>GCA406012708BCKDHAc.673C>G (p.Arg225Gly)
c.607C>G (p.Arg203Gly)
n.302C>G
n.799C>G
c.775C>G (p.Arg259Gly)
c.573C>G
c.586C>G (p.Arg196Gly)
n.301C>G
19g.41422190C>TCA9461239BCKDHAc.673C>T (p.Arg225Trp)
c.607C>T (p.Arg203Trp)
n.302C>T
n.799C>T
c.775C>T (p.Arg259Trp)
c.573C>T
c.586C>T (p.Arg196Trp)
n.301C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422190_41422191delinsCGCA2336458992BCKDHAc.673_674delinsCG (p.Arg225=)
c.607_608delinsCG (p.Arg203=)
n.302_303delinsCG
n.799_800delinsCG
c.775_776delinsCG (p.Arg259=)
c.573_574delinsCG
c.586_587delinsCG (p.Arg196=)
n.301_302delinsCG
19g.41422191G>ACA9461241BCKDHAc.674G>A (p.Arg225Gln)
c.608G>A (p.Arg203Gln)
n.303G>A
n.800G>A
c.776G>A (p.Arg259Gln)
c.574G>A
c.587G>A (p.Arg196Gln)
n.302G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422191G>CCA406012710BCKDHAc.674G>C (p.Arg225Pro)
c.608G>C (p.Arg203Pro)
n.303G>C
n.800G>C
c.776G>C (p.Arg259Pro)
c.574G>C
c.587G>C (p.Arg196Pro)
n.302G>C
19g.41422191G=CA2336458994BCKDHAc.674G= (p.Arg225=)
c.608G= (p.Arg203=)
n.303G=
n.800G=
c.776G= (p.Arg259=)
c.574G=
c.587G= (p.Arg196=)
n.302G=
19g.41422191G>TCA406012709BCKDHAc.674G>T (p.Arg225Leu)
c.608G>T (p.Arg203Leu)
n.303G>T
n.800G>T
c.776G>T (p.Arg259Leu)
c.574G>T
c.587G>T (p.Arg196Leu)
n.302G>T
19g.41422193delCA9461240BCKDHAc.676del (p.Ala226ProfsTer?)
c.610del (p.Ala204ProfsTer?)
n.305del
n.802del
c.778del (p.Ala260ProfsTer?)
c.576del
c.589del (p.Ala197ProfsTer?)
n.304del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422192G>ACA507690363BCKDHAc.675G>A (p.Arg225=)
c.609G>A (p.Arg203=)
n.304G>A
n.801G>A
c.777G>A (p.Arg259=)
c.575G>A
c.588G>A (p.Arg196=)
n.303G>A
19g.41422192G>CCA507690361BCKDHAc.675G>C (p.Arg225=)
c.609G>C (p.Arg203=)
n.304G>C
n.801G>C
c.777G>C (p.Arg259=)
c.575G>C
c.588G>C (p.Arg196=)
n.303G>C
19g.41422192G>TCA507690365BCKDHAc.675G>T (p.Arg225=)
c.609G>T (p.Arg203=)
n.304G>T
n.801G>T
c.777G>T (p.Arg259=)
c.575G>T
c.588G>T (p.Arg196=)
n.303G>T
 ClinVar dbSNP
19g.41422193G>ACA406012711BCKDHAc.676G>A (p.Ala226Thr)
c.610G>A (p.Ala204Thr)
n.305G>A
n.802G>A
c.778G>A (p.Ala260Thr)
c.576G>A
c.589G>A (p.Ala197Thr)
n.304G>A
 gnomAD v4
19g.41422193G>CCA406012712BCKDHAc.676G>C (p.Ala226Pro)
c.610G>C (p.Ala204Pro)
n.305G>C
n.802G>C
c.778G>C (p.Ala260Pro)
c.576G>C
c.589G>C (p.Ala197Pro)
n.304G>C
19g.41422193G>TCA406012713BCKDHAc.676G>T (p.Ala226Ser)
c.610G>T (p.Ala204Ser)
n.305G>T
n.802G>T
c.778G>T (p.Ala260Ser)
c.576G>T
c.589G>T (p.Ala197Ser)
n.304G>T
19g.41422194C>ACA406012714BCKDHAc.677C>A (p.Ala226Asp)
c.611C>A (p.Ala204Asp)
n.306C>A
n.803C>A
c.779C>A (p.Ala260Asp)
c.577C>A
c.590C>A (p.Ala197Asp)
n.305C>A
19g.41422194C>GCA406012715BCKDHAc.677C>G (p.Ala226Gly)
c.611C>G (p.Ala204Gly)
n.306C>G
n.803C>G
c.779C>G (p.Ala260Gly)
c.577C>G
c.590C>G (p.Ala197Gly)
n.305C>G
19g.41422194C>TCA406012716BCKDHAc.677C>T (p.Ala226Val)
c.611C>T (p.Ala204Val)
n.306C>T
n.803C>T
c.779C>T (p.Ala260Val)
c.577C>T
c.590C>T (p.Ala197Val)
n.305C>T
 ClinVar gnomAD v4
19g.41422195delCA2735929923BCKDHAc.678del (p.Asn227MetfsTer?)
c.612del (p.Asn205MetfsTer?)
n.307del
n.804del
c.780del (p.Asn261MetfsTer?)
c.578del
c.591del (p.Asn198MetfsTer?)
n.306del
 dbSNP
19g.41422195C>ACA507690371BCKDHAc.678C>A (p.Ala226=)
c.612C>A (p.Ala204=)
n.307C>A
n.804C>A
c.780C>A (p.Ala260=)
c.578C>A
c.591C>A (p.Ala197=)
n.306C>A
19g.41422195C>GCA507690372BCKDHAc.678C>G (p.Ala226=)
c.612C>G (p.Ala204=)
n.307C>G
n.804C>G
c.780C>G (p.Ala260=)
c.578C>G
c.591C>G (p.Ala197=)
n.306C>G
19g.41422195C>TCA507690373BCKDHAc.678C>T (p.Ala226=)
c.612C>T (p.Ala204=)
n.307C>T
n.804C>T
c.780C>T (p.Ala260=)
c.578C>T
c.591C>T (p.Ala197=)
n.306C>T
19g.41422196A>CCA406012717BCKDHAc.679A>C (p.Asn227His)
c.613A>C (p.Asn205His)
n.308A>C
n.805A>C
c.781A>C (p.Asn261His)
c.579A>C
c.592A>C (p.Asn198His)
n.307A>C
19g.41422196A>GCA406012718BCKDHAc.679A>G (p.Asn227Asp)
c.613A>G (p.Asn205Asp)
n.308A>G
n.805A>G
c.781A>G (p.Asn261Asp)
c.579A>G
c.592A>G (p.Asn198Asp)
n.307A>G
19g.41422196A>TCA406012719BCKDHAc.679A>T (p.Asn227Tyr)
c.613A>T (p.Asn205Tyr)
n.308A>T
n.805A>T
c.781A>T (p.Asn261Tyr)
c.579A>T
c.592A>T (p.Asn198Tyr)
n.307A>T
19g.41422197A=CA2336458995BCKDHAc.680A= (p.Asn227=)
c.614A= (p.Asn205=)
n.309A=
n.806A=
c.782A= (p.Asn261=)
c.580A=
c.593A= (p.Asn198=)
n.308A=
19g.41422197A>CCA406012720BCKDHAc.680A>C (p.Asn227Thr)
c.614A>C (p.Asn205Thr)
n.309A>C
n.806A>C
c.782A>C (p.Asn261Thr)
c.580A>C
c.593A>C (p.Asn198Thr)
n.308A>C
19g.41422197A>GCA308524076BCKDHAc.680A>G (p.Asn227Ser)
c.614A>G (p.Asn205Ser)
n.309A>G
n.806A>G
c.782A>G (p.Asn261Ser)
c.580A>G
c.593A>G (p.Asn198Ser)
n.308A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422197A>TCA406012721BCKDHAc.680A>T (p.Asn227Ile)
c.614A>T (p.Asn205Ile)
n.309A>T
n.806A>T
c.782A>T (p.Asn261Ile)
c.580A>T
c.593A>T (p.Asn198Ile)
n.308A>T
19g.41422198T>ACA406012722BCKDHAc.681T>A (p.Asn227Lys)
c.615T>A (p.Asn205Lys)
n.310T>A
n.807T>A
c.783T>A (p.Asn261Lys)
c.581T>A
c.594T>A (p.Asn198Lys)
n.309T>A
19g.41422198T>CCA308524083BCKDHAc.681T>C (p.Asn227=)
c.615T>C (p.Asn205=)
n.310T>C
n.807T>C
c.783T>C (p.Asn261=)
c.581T>C
c.594T>C (p.Asn198=)
n.309T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422198T>GCA406012723BCKDHAc.681T>G (p.Asn227Lys)
c.615T>G (p.Asn205Lys)
n.310T>G
n.807T>G
c.783T>G (p.Asn261Lys)
c.581T>G
c.594T>G (p.Asn198Lys)
n.309T>G
19g.41422198T=CA2336458996BCKDHAc.681T= (p.Asn227=)
c.615T= (p.Asn205=)
n.310T=
n.807T=
c.783T= (p.Asn261=)
c.581T=
c.594T= (p.Asn198=)
n.309T=
19g.41422199G>ACA406012724BCKDHAc.682G>A (p.Ala228Thr)
c.616G>A (p.Ala206Thr)
n.311G>A
n.808G>A
c.784G>A (p.Ala262Thr)
c.582G>A
c.595G>A (p.Ala199Thr)
n.310G>A
 gnomAD v4
19g.41422199G>CCA406012725BCKDHAc.682G>C (p.Ala228Pro)
c.616G>C (p.Ala206Pro)
n.311G>C
n.808G>C
c.784G>C (p.Ala262Pro)
c.582G>C
c.595G>C (p.Ala199Pro)
n.310G>C
 dbSNP gnomAD v2 gnomAD v4
19g.41422199G=CA2336458997BCKDHAc.682G= (p.Ala228=)
c.616G= (p.Ala206=)
n.311G=
n.808G=
c.784G= (p.Ala262=)
c.582G=
c.595G= (p.Ala199=)
n.310G=
19g.41422199G>TCA406012726BCKDHAc.682G>T (p.Ala228Ser)
c.616G>T (p.Ala206Ser)
n.311G>T
n.808G>T
c.784G>T (p.Ala262Ser)
c.582G>T
c.595G>T (p.Ala199Ser)
n.310G>T
19g.41422200C>ACA406012727BCKDHAc.683C>A (p.Ala228Asp)
c.617C>A (p.Ala206Asp)
n.312C>A
n.809C>A
c.785C>A (p.Ala262Asp)
c.583C>A
c.596C>A (p.Ala199Asp)
n.311C>A
19g.41422200C=CA2336458998BCKDHAc.683C= (p.Ala228=)
c.617C= (p.Ala206=)
n.312C=
n.809C=
c.785C= (p.Ala262=)
c.583C=
c.596C= (p.Ala199=)
n.311C=
19g.41422200C>GCA308524094BCKDHAc.683C>G (p.Ala228Gly)
c.617C>G (p.Ala206Gly)
n.312C>G
n.809C>G
c.785C>G (p.Ala262Gly)
c.583C>G
c.596C>G (p.Ala199Gly)
n.311C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422200C>TCA406012728BCKDHAc.683C>T (p.Ala228Val)
c.617C>T (p.Ala206Val)
n.312C>T
n.809C>T
c.785C>T (p.Ala262Val)
c.583C>T
c.596C>T (p.Ala199Val)
n.311C>T
19g.41422201C>ACA507690387BCKDHAc.684C>A (p.Ala228=)
c.618C>A (p.Ala206=)
n.313C>A
n.810C>A
c.786C>A (p.Ala262=)
c.584C>A
c.597C>A (p.Ala199=)
n.312C>A
19g.41422201C=CA2336458999BCKDHAc.684C= (p.Ala228=)
c.618C= (p.Ala206=)
n.313C=
n.810C=
c.786C= (p.Ala262=)
c.584C=
c.597C= (p.Ala199=)
n.312C=
19g.41422201C>GCA507690388BCKDHAc.684C>G (p.Ala228=)
c.618C>G (p.Ala206=)
n.313C>G
n.810C>G
c.786C>G (p.Ala262=)
c.584C>G
c.597C>G (p.Ala199=)
n.312C>G
19g.41422201C>TCA9461242BCKDHAc.684C>T (p.Ala228=)
c.618C>T (p.Ala206=)
n.313C>T
n.810C>T
c.786C>T (p.Ala262=)
c.584C>T
c.597C>T (p.Ala199=)
n.312C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422202A=CA2336459000BCKDHAc.685A= (p.Asn229=)
c.619A= (p.Asn207=)
n.314A=
n.811A=
c.787A= (p.Asn263=)
c.585A=
c.598A= (p.Asn200=)
n.313A=
19g.41422202A>CCA406012729BCKDHAc.685A>C (p.Asn229His)
c.619A>C (p.Asn207His)
n.314A>C
n.811A>C
c.787A>C (p.Asn263His)
c.585A>C
c.598A>C (p.Asn200His)
n.313A>C
 gnomAD v4
19g.41422202A>GCA406012730BCKDHAc.685A>G (p.Asn229Asp)
c.619A>G (p.Asn207Asp)
n.314A>G
n.811A>G
c.787A>G (p.Asn263Asp)
c.585A>G
c.598A>G (p.Asn200Asp)
n.313A>G
 gnomAD v4
19g.41422202A>TCA9461243BCKDHAc.685A>T (p.Asn229Tyr)
c.619A>T (p.Asn207Tyr)
n.314A>T
n.811A>T
c.787A>T (p.Asn263Tyr)
c.585A>T
c.598A>T (p.Asn200Tyr)
n.313A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422203A>CCA406012731BCKDHAc.686A>C (p.Asn229Thr)
c.620A>C (p.Asn207Thr)
n.315A>C
n.812A>C
c.788A>C (p.Asn263Thr)
c.586A>C
c.599A>C (p.Asn200Thr)
n.314A>C
19g.41422203A>GCA406012732BCKDHAc.686A>G (p.Asn229Ser)
c.620A>G (p.Asn207Ser)
n.315A>G
n.812A>G
c.788A>G (p.Asn263Ser)
c.586A>G
c.599A>G (p.Asn200Ser)
n.314A>G
19g.41422203A>TCA406012733BCKDHAc.686A>T (p.Asn229Ile)
c.620A>T (p.Asn207Ile)
n.315A>T
n.812A>T
c.788A>T (p.Asn263Ile)
c.586A>T
c.599A>T (p.Asn200Ile)
n.314A>T
19g.41422204C>ACA406012735BCKDHAc.687C>A (p.Asn229Lys)
c.621C>A (p.Asn207Lys)
n.316C>A
n.813C>A
c.789C>A (p.Asn263Lys)
c.587C>A
c.600C>A (p.Asn200Lys)
n.315C>A
19g.41422204C>GCA406012734BCKDHAc.687C>G (p.Asn229Lys)
c.621C>G (p.Asn207Lys)
n.316C>G
n.813C>G
c.789C>G (p.Asn263Lys)
c.587C>G
c.600C>G (p.Asn200Lys)
n.315C>G
19g.41422204C>TCA507690394BCKDHAc.687C>T (p.Asn229=)
c.621C>T (p.Asn207=)
n.316C>T
n.813C>T
c.789C>T (p.Asn263=)
c.587C>T
c.600C>T (p.Asn200=)
n.315C>T
 gnomAD v4
19g.41422205A=CA2336459001BCKDHAc.688A= (p.Arg230=)
c.622A= (p.Arg208=)
n.317A=
n.814A=
c.790A= (p.Arg264=)
c.588A=
c.601A= (p.Arg201=)
n.316A=
19g.41422205A>CCA507690396BCKDHAc.688A>C (p.Arg230=)
c.622A>C (p.Arg208=)
n.317A>C
n.814A>C
c.790A>C (p.Arg264=)
c.588A>C
c.601A>C (p.Arg201=)
n.316A>C
19g.41422205A>GCA9461244BCKDHAc.688A>G (p.Arg230Gly)
c.622A>G (p.Arg208Gly)
n.317A>G
n.814A>G
c.790A>G (p.Arg264Gly)
c.588A>G
c.601A>G (p.Arg201Gly)
n.316A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422205A>TCA406012736BCKDHAc.688A>T (p.Arg230Trp)
c.622A>T (p.Arg208Trp)
n.317A>T
n.814A>T
c.790A>T (p.Arg264Trp)
c.588A>T
c.601A>T (p.Arg201Trp)
n.316A>T
19g.41422206G>ACA406012737BCKDHAc.689G>A (p.Arg230Lys)
c.623G>A (p.Arg208Lys)
n.318G>A
n.815G>A
c.791G>A (p.Arg264Lys)
c.589G>A
c.602G>A (p.Arg201Lys)
n.317G>A
19g.41422206G>CCA308524127BCKDHAc.689G>C (p.Arg230Thr)
c.623G>C (p.Arg208Thr)
n.318G>C
n.815G>C
c.791G>C (p.Arg264Thr)
c.589G>C
c.602G>C (p.Arg201Thr)
n.317G>C
 dbSNP
19g.41422206G=CA2336459002BCKDHAc.689G= (p.Arg230=)
c.623G= (p.Arg208=)
n.318G=
n.815G=
c.791G= (p.Arg264=)
c.589G=
c.602G= (p.Arg201=)
n.317G=
19g.41422206G>TCA308524135BCKDHAc.689G>T (p.Arg230Met)
c.623G>T (p.Arg208Met)
n.318G>T
n.815G>T
c.791G>T (p.Arg264Met)
c.589G>T
c.602G>T (p.Arg201Met)
n.317G>T
 dbSNP
19g.41422208delCA2814427390BCKDHAc.691del (p.Val231SerfsTer?)
c.625del (p.Val209SerfsTer?)
n.320del
c.793del (p.Val265SerfsTer?)
c.591del
c.604del (p.Val202SerfsTer?)
n.319del
19g.41422207G>ACA507690405BCKDHAc.690G>A (p.Arg230=)
c.624G>A (p.Arg208=)
n.319G>A
n.816G>A
c.792G>A (p.Arg264=)
c.590G>A
c.603G>A (p.Arg201=)
n.318G>A
19g.41422207G>CCA406012738BCKDHAc.690G>C (p.Arg230Ser)
c.624G>C (p.Arg208Ser)
n.319G>C
n.816G>C
c.792G>C (p.Arg264Ser)
c.590G>C
c.603G>C (p.Arg201Ser)
n.318G>C
19g.41422207G=CA2336459003BCKDHAc.690G= (p.Arg230=)
c.624G= (p.Arg208=)
n.319G=
n.816G=
c.792G= (p.Arg264=)
c.590G=
c.603G= (p.Arg201=)
n.318G=
19g.41422207G>TCA308524141BCKDHAc.690G>T (p.Arg230Ser)
c.624G>T (p.Arg208Ser)
n.319G>T
n.816G>T
c.792G>T (p.Arg264Ser)
c.590G>T
c.603G>T (p.Arg201Ser)
n.318G>T
 dbSNP gnomAD v4
19g.41422208G>ACA406012739BCKDHAc.691G>A (p.Val231Ile)
c.625G>A (p.Val209Ile)
n.320G>A
c.793G>A (p.Val265Ile)
c.591G>A
c.604G>A (p.Val202Ile)
n.319G>A
 COSMIC
19g.41422208G>CCA406012740BCKDHAc.691G>C (p.Val231Leu)
c.625G>C (p.Val209Leu)
n.320G>C
c.793G>C (p.Val265Leu)
c.591G>C
c.604G>C (p.Val202Leu)
n.319G>C
19g.41422208G>TCA406012741BCKDHAc.691G>T (p.Val231Phe)
c.625G>T (p.Val209Phe)
n.320G>T
c.793G>T (p.Val265Phe)
c.591G>T
c.604G>T (p.Val202Phe)
n.319G>T
 ClinVar dbSNP gnomAD v4
19g.41422211_41422213delCA2585307993BCKDHAc.694_696del (p.Val232del)
c.628_630del (p.Val210del)
n.323_325del
c.796_798del (p.Val266del)
c.594_596del
c.607_609del (p.Val203del)
n.322_324del
 gnomAD v4
19g.41422209T>ACA406012742BCKDHAc.692T>A (p.Val231Asp)
c.626T>A (p.Val209Asp)
n.321T>A
c.794T>A (p.Val265Asp)
c.592T>A
c.605T>A (p.Val202Asp)
n.320T>A
19g.41422209T>CCA406012743BCKDHAc.692T>C (p.Val231Ala)
c.626T>C (p.Val209Ala)
n.321T>C
c.794T>C (p.Val265Ala)
c.592T>C
c.605T>C (p.Val202Ala)
n.320T>C
19g.41422209T>GCA406012744BCKDHAc.692T>G (p.Val231Gly)
c.626T>G (p.Val209Gly)
n.321T>G
c.794T>G (p.Val265Gly)
c.592T>G
c.605T>G (p.Val202Gly)
n.320T>G
 dbSNP
19g.41422209T=CA2336459004BCKDHAc.692T= (p.Val231=)
c.626T= (p.Val209=)
n.321T=
c.794T= (p.Val265=)
c.592T=
c.605T= (p.Val202=)
n.320T=
19g.41422210C>ACA507690408BCKDHAc.693C>A (p.Val231=)
c.627C>A (p.Val209=)
n.322C>A
c.795C>A (p.Val265=)
c.593C>A
c.606C>A (p.Val202=)
n.321C>A
19g.41422210C=CA2336459005BCKDHAc.693C= (p.Val231=)
c.627C= (p.Val209=)
n.322C=
c.795C= (p.Val265=)
c.593C=
c.606C= (p.Val202=)
n.321C=
19g.41422210C>GCA507690411BCKDHAc.693C>G (p.Val231=)
c.627C>G (p.Val209=)
n.322C>G
c.795C>G (p.Val265=)
c.593C>G
c.606C>G (p.Val202=)
n.321C>G
 gnomAD v4
19g.41422210C>TCA9461245BCKDHAc.693C>T (p.Val231=)
c.627C>T (p.Val209=)
n.322C>T
c.795C>T (p.Val265=)
c.593C>T
c.606C>T (p.Val202=)
n.321C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422211G>ACA308524145BCKDHAc.694G>A (p.Val232Ile)
c.628G>A (p.Val210Ile)
n.323G>A
c.796G>A (p.Val266Ile)
c.594G>A
c.607G>A (p.Val203Ile)
n.322G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422211G>CCA406012745BCKDHAc.694G>C (p.Val232Leu)
c.628G>C (p.Val210Leu)
n.323G>C
c.796G>C (p.Val266Leu)
c.594G>C
c.607G>C (p.Val203Leu)
n.322G>C
19g.41422211G=CA2336459006BCKDHAc.694G= (p.Val232=)
c.628G= (p.Val210=)
n.323G=
c.796G= (p.Val266=)
c.594G=
c.607G= (p.Val203=)
n.322G=
19g.41422211G>TCA406012746BCKDHAc.694G>T (p.Val232Phe)
c.628G>T (p.Val210Phe)
n.323G>T
c.796G>T (p.Val266Phe)
c.594G>T
c.607G>T (p.Val203Phe)
n.322G>T
19g.41422212T>ACA406012747BCKDHAc.695T>A (p.Val232Asp)
c.629T>A (p.Val210Asp)
n.324T>A
c.797T>A (p.Val266Asp)
c.595T>A
c.608T>A (p.Val203Asp)
n.323T>A
19g.41422212T>CCA406012748BCKDHAc.695T>C (p.Val232Ala)
c.629T>C (p.Val210Ala)
n.324T>C
c.797T>C (p.Val266Ala)
c.595T>C
c.608T>C (p.Val203Ala)
n.323T>C
 gnomAD v4
19g.41422212T>GCA406012749BCKDHAc.695T>G (p.Val232Gly)
c.629T>G (p.Val210Gly)
n.324T>G
c.797T>G (p.Val266Gly)
c.595T>G
c.608T>G (p.Val203Gly)
n.323T>G
19g.41422212_41422213delCA2580097291BCKDHAc.695_696del (p.Val232AspfsTer11)
c.629_630del (p.Val210AspfsTer11)
n.324_325del
c.797_798del (p.Val266AspfsTer11)
c.595_596del
c.608_609del (p.Val203AspfsTer11)
n.323_324del
 ClinVar
19g.41422213C>ACA507690423BCKDHAc.696C>A (p.Val232=)
c.630C>A (p.Val210=)
n.325C>A
c.798C>A (p.Val266=)
c.596C>A
c.609C>A (p.Val203=)
n.324C>A
19g.41422213C>GCA507690417BCKDHAc.696C>G (p.Val232=)
c.630C>G (p.Val210=)
n.325C>G
c.798C>G (p.Val266=)
c.596C>G
c.609C>G (p.Val203=)
n.324C>G
19g.41422213C>TCA507690420BCKDHAc.696C>T (p.Val232=)
c.630C>T (p.Val210=)
n.325C>T
c.798C>T (p.Val266=)
c.596C>T
c.609C>T (p.Val203=)
n.324C>T
 gnomAD v4
19g.41422214A>CCA406012750BCKDHAc.697A>C (p.Ile233Leu)
c.631A>C (p.Ile211Leu)
n.326A>C
c.799A>C (p.Ile267Leu)
c.597A>C
c.610A>C (p.Ile204Leu)
n.325A>C
19g.41422214A>GCA406012751BCKDHAc.697A>G (p.Ile233Val)
c.631A>G (p.Ile211Val)
n.326A>G
c.799A>G (p.Ile267Val)
c.597A>G
c.610A>G (p.Ile204Val)
n.325A>G
 gnomAD v4
19g.41422214A>TCA406012752BCKDHAc.697A>T (p.Ile233Phe)
c.631A>T (p.Ile211Phe)
n.326A>T
c.799A>T (p.Ile267Phe)
c.597A>T
c.610A>T (p.Ile204Phe)
n.325A>T
19g.41422215T>ACA406012753BCKDHAc.698T>A (p.Ile233Asn)
c.632T>A (p.Ile211Asn)
n.327T>A
c.800T>A (p.Ile267Asn)
c.598T>A
c.611T>A (p.Ile204Asn)
n.326T>A
19g.41422215T>CCA406012754BCKDHAc.698T>C (p.Ile233Thr)
c.632T>C (p.Ile211Thr)
n.327T>C
c.800T>C (p.Ile267Thr)
c.598T>C
c.611T>C (p.Ile204Thr)
n.326T>C
19g.41422215T>GCA406012755BCKDHAc.698T>G (p.Ile233Ser)
c.632T>G (p.Ile211Ser)
n.327T>G
c.800T>G (p.Ile267Ser)
c.598T>G
c.611T>G (p.Ile204Ser)
n.326T>G
19g.41422216_41422217delCA2580097292BCKDHAc.699_700del (p.Ile233MetfsTer10)
c.633_634del (p.Ile211MetfsTer10)
n.328_329del
c.801_802del (p.Ile267MetfsTer10)
c.599_600del
c.612_613del (p.Ile204MetfsTer10)
n.327_328del
 ClinVar gnomAD v4
19g.41422216C>ACA507690429BCKDHAc.699C>A (p.Ile233=)
c.633C>A (p.Ile211=)
n.328C>A
c.801C>A (p.Ile267=)
c.599C>A
c.612C>A (p.Ile204=)
n.327C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422216C=CA2336459007BCKDHAc.699C= (p.Ile233=)
c.633C= (p.Ile211=)
n.328C=
c.801C= (p.Ile267=)
c.599C=
c.612C= (p.Ile204=)
n.327C=
19g.41422216C>GCA406012756BCKDHAc.699C>G (p.Ile233Met)
c.633C>G (p.Ile211Met)
n.328C>G
c.801C>G (p.Ile267Met)
c.599C>G
c.612C>G (p.Ile204Met)
n.327C>G
19g.41422216C>TCA507690430BCKDHAc.699C>T (p.Ile233=)
c.633C>T (p.Ile211=)
n.328C>T
c.801C>T (p.Ile267=)
c.599C>T
c.612C>T (p.Ile204=)
n.327C>T
 dbSNP gnomAD v4
19g.41422217T>ACA406012757BCKDHAc.700T>A (p.Cys234Ser)
c.634T>A (p.Cys212Ser)
n.329T>A
c.802T>A (p.Cys268Ser)
c.600T>A
c.613T>A (p.Cys205Ser)
n.328T>A
19g.41422217T>CCA406012758BCKDHAc.700T>C (p.Cys234Arg)
c.634T>C (p.Cys212Arg)
n.329T>C
c.802T>C (p.Cys268Arg)
c.600T>C
c.613T>C (p.Cys205Arg)
n.328T>C
19g.41422217T>GCA406012759BCKDHAc.700T>G (p.Cys234Gly)
c.634T>G (p.Cys212Gly)
n.329T>G
c.802T>G (p.Cys268Gly)
c.600T>G
c.613T>G (p.Cys205Gly)
n.328T>G
19g.41422218_41422219delCA2499225496BCKDHAc.701_702del (p.Cys234LeufsTer9)
c.635_636del (p.Cys212LeufsTer9)
n.330_331del
c.803_804del (p.Cys268LeufsTer9)
c.601_602del
c.614_615del (p.Cys205LeufsTer9)
n.329_330del
 ClinVar dbSNP
19g.41422218G>ACA406012762BCKDHAc.701G>A (p.Cys234Tyr)
c.635G>A (p.Cys212Tyr)
n.330G>A
c.803G>A (p.Cys268Tyr)
c.601G>A
c.614G>A (p.Cys205Tyr)
n.329G>A
19g.41422218G>CCA406012761BCKDHAc.701G>C (p.Cys234Ser)
c.635G>C (p.Cys212Ser)
n.330G>C
c.803G>C (p.Cys268Ser)
c.601G>C
c.614G>C (p.Cys205Ser)
n.329G>C
19g.41422218G>TCA406012760BCKDHAc.701G>T (p.Cys234Phe)
c.635G>T (p.Cys212Phe)
n.330G>T
c.803G>T (p.Cys268Phe)
c.601G>T
c.614G>T (p.Cys205Phe)
n.329G>T
19g.41422219T>ACA406012763BCKDHAc.702T>A (p.Cys234Ter)
c.636T>A (p.Cys212Ter)
n.331T>A
c.804T>A (p.Cys268Ter)
c.602T>A
c.615T>A (p.Cys205Ter)
n.330T>A
19g.41422219T>CCA507690437BCKDHAc.702T>C (p.Cys234=)
c.636T>C (p.Cys212=)
n.331T>C
c.804T>C (p.Cys268=)
c.602T>C
c.615T>C (p.Cys205=)
n.330T>C
19g.41422219T>GCA406012764BCKDHAc.702T>G (p.Cys234Trp)
c.636T>G (p.Cys212Trp)
n.331T>G
c.804T>G (p.Cys268Trp)
c.602T>G
c.615T>G (p.Cys205Trp)
n.330T>G
19g.41422220delCA2695228766BCKDHAc.703del (p.Tyr235ThrfsTer?)
c.637del (p.Tyr213ThrfsTer?)
n.332del
c.805del (p.Tyr269ThrfsTer?)
c.603del
c.616del (p.Tyr206ThrfsTer?)
n.331del
19g.41422220T>ACA406012765BCKDHAc.703T>A (p.Tyr235Asn)
c.637T>A (p.Tyr213Asn)
n.332T>A
c.805T>A (p.Tyr269Asn)
c.603T>A
c.616T>A (p.Tyr206Asn)
n.331T>A
19g.41422220T>CCA406012766BCKDHAc.703T>C (p.Tyr235His)
c.637T>C (p.Tyr213His)
n.332T>C
c.805T>C (p.Tyr269His)
c.603T>C
c.616T>C (p.Tyr206His)
n.331T>C
19g.41422220T>GCA406012767BCKDHAc.703T>G (p.Tyr235Asp)
c.637T>G (p.Tyr213Asp)
n.332T>G
c.805T>G (p.Tyr269Asp)
c.603T>G
c.616T>G (p.Tyr206Asp)
n.331T>G
19g.41422221A>CCA406012768BCKDHAc.704A>C (p.Tyr235Ser)
c.638A>C (p.Tyr213Ser)
n.333A>C
c.806A>C (p.Tyr269Ser)
c.604A>C
c.617A>C (p.Tyr206Ser)
n.332A>C
19g.41422221A>GCA406012769BCKDHAc.704A>G (p.Tyr235Cys)
c.638A>G (p.Tyr213Cys)
n.333A>G
c.806A>G (p.Tyr269Cys)
c.604A>G
c.617A>G (p.Tyr206Cys)
n.332A>G
19g.41422221A>TCA406012770BCKDHAc.704A>T (p.Tyr235Phe)
c.638A>T (p.Tyr213Phe)
n.333A>T
c.806A>T (p.Tyr269Phe)
c.604A>T
c.617A>T (p.Tyr206Phe)
n.332A>T
19g.41422222C>ACA406012771BCKDHAc.705C>A (p.Tyr235Ter)
c.639C>A (p.Tyr213Ter)
n.334C>A
c.807C>A (p.Tyr269Ter)
c.605C>A
c.618C>A (p.Tyr206Ter)
n.333C>A
 dbSNP gnomAD v4
19g.41422222C=CA2336459008BCKDHAc.705C= (p.Tyr235=)
c.639C= (p.Tyr213=)
n.334C=
c.807C= (p.Tyr269=)
c.605C=
c.618C= (p.Tyr206=)
n.333C=
19g.41422222C>GCA406012772BCKDHAc.705C>G (p.Tyr235Ter)
c.639C>G (p.Tyr213Ter)
n.334C>G
c.807C>G (p.Tyr269Ter)
c.605C>G
c.618C>G (p.Tyr206Ter)
n.333C>G
19g.41422222C>TCA507690443BCKDHAc.705C>T (p.Tyr235=)
c.639C>T (p.Tyr213=)
n.334C>T
c.807C>T (p.Tyr269=)
c.605C>T
c.618C>T (p.Tyr206=)
n.333C>T
 ClinVar dbSNP gnomAD v4
19g.41422223T>ACA406012773BCKDHAc.706T>A (p.Phe236Ile)
c.640T>A (p.Phe214Ile)
n.335T>A
c.808T>A (p.Phe270Ile)
c.606T>A
c.619T>A (p.Phe207Ile)
n.334T>A
19g.41422223T>CCA406012774BCKDHAc.706T>C (p.Phe236Leu)
c.640T>C (p.Phe214Leu)
n.335T>C
c.808T>C (p.Phe270Leu)
c.606T>C
c.619T>C (p.Phe207Leu)
n.334T>C
19g.41422223T>GCA406012775BCKDHAc.706T>G (p.Phe236Val)
c.640T>G (p.Phe214Val)
n.335T>G
c.808T>G (p.Phe270Val)
c.606T>G
c.619T>G (p.Phe207Val)
n.334T>G
19g.41422224T>ACA406012777BCKDHAc.707T>A (p.Phe236Tyr)
c.641T>A (p.Phe214Tyr)
n.336T>A
c.809T>A (p.Phe270Tyr)
c.607T>A
c.620T>A (p.Phe207Tyr)
n.335T>A
19g.41422224T>CCA406012778BCKDHAc.707T>C (p.Phe236Ser)
c.641T>C (p.Phe214Ser)
n.336T>C
c.809T>C (p.Phe270Ser)
c.607T>C
c.620T>C (p.Phe207Ser)
n.335T>C
19g.41422224T>GCA406012776BCKDHAc.707T>G (p.Phe236Cys)
c.641T>G (p.Phe214Cys)
n.336T>G
c.809T>G (p.Phe270Cys)
c.607T>G
c.620T>G (p.Phe207Cys)
n.335T>G
19g.41422225C>ACA406012779BCKDHAc.708C>A (p.Phe236Leu)
c.642C>A (p.Phe214Leu)
n.337C>A
c.810C>A (p.Phe270Leu)
c.608C>A
c.621C>A (p.Phe207Leu)
n.336C>A
19g.41422225C=CA2336459009BCKDHAc.708C= (p.Phe236=)
c.642C= (p.Phe214=)
n.337C=
c.810C= (p.Phe270=)
c.608C=
c.621C= (p.Phe207=)
n.336C=
19g.41422225C>GCA406012780BCKDHAc.708C>G (p.Phe236Leu)
c.642C>G (p.Phe214Leu)
n.337C>G
c.810C>G (p.Phe270Leu)
c.608C>G
c.621C>G (p.Phe207Leu)
n.336C>G
19g.41422225C>TCA221210BCKDHAc.708C>T (p.Phe236=)
c.642C>T (p.Phe214=)
n.337C>T
c.810C>T (p.Phe270=)
c.608C>T
c.621C>T (p.Phe207=)
n.336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422226G>ACA406012781BCKDHAc.709G>A (p.Gly237Ser)
c.643G>A (p.Gly215Ser)
n.338G>A
c.811G>A (p.Gly271Ser)
c.609G>A
c.622G>A (p.Gly208Ser)
n.337G>A
 ClinVar gnomAD v4
19g.41422226G>CCA406012782BCKDHAc.709G>C (p.Gly237Arg)
c.643G>C (p.Gly215Arg)
n.338G>C
c.811G>C (p.Gly271Arg)
c.609G>C
c.622G>C (p.Gly208Arg)
n.337G>C
19g.41422226G>TCA406012783BCKDHAc.709G>T (p.Gly237Cys)
c.643G>T (p.Gly215Cys)
n.338G>T
c.811G>T (p.Gly271Cys)
c.609G>T
c.622G>T (p.Gly208Cys)
n.337G>T
19g.41422227G>ACA406012784BCKDHAc.710G>A (p.Gly237Asp)
c.644G>A (p.Gly215Asp)
n.339G>A
c.812G>A (p.Gly271Asp)
c.610G>A
c.623G>A (p.Gly208Asp)
n.338G>A
19g.41422227G>CCA406012785BCKDHAc.710G>C (p.Gly237Ala)
c.644G>C (p.Gly215Ala)
n.339G>C
c.812G>C (p.Gly271Ala)
c.610G>C
c.623G>C (p.Gly208Ala)
n.338G>C
19g.41422227G>TCA406012786BCKDHAc.710G>T (p.Gly237Val)
c.644G>T (p.Gly215Val)
n.339G>T
c.812G>T (p.Gly271Val)
c.610G>T
c.623G>T (p.Gly208Val)
n.338G>T
19g.41422228C>ACA507690455BCKDHAc.711C>A (p.Gly237=)
c.645C>A (p.Gly215=)
n.340C>A
c.813C>A (p.Gly271=)
c.611C>A
c.624C>A (p.Gly208=)
n.339C>A
19g.41422228C=CA2336459010BCKDHAc.711C= (p.Gly237=)
c.645C= (p.Gly215=)
n.340C=
c.813C= (p.Gly271=)
c.611C=
c.624C= (p.Gly208=)
n.339C=
19g.41422228C>GCA507690457BCKDHAc.711C>G (p.Gly237=)
c.645C>G (p.Gly215=)
n.340C>G
c.813C>G (p.Gly271=)
c.611C>G
c.624C>G (p.Gly208=)
n.339C>G
19g.41422228C>TCA308524153BCKDHAc.711C>T (p.Gly237=)
c.645C>T (p.Gly215=)
n.340C>T
c.813C>T (p.Gly271=)
c.611C>T
c.624C>T (p.Gly208=)
n.339C>T
 dbSNP gnomAD v4
19g.41422229G>ACA406012787BCKDHAc.712G>A (p.Glu238Lys)
c.646G>A (p.Glu216Lys)
n.341G>A
c.814G>A (p.Glu272Lys)
c.612G>A
c.625G>A (p.Glu209Lys)
n.340G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422229G>CCA406012788BCKDHAc.712G>C (p.Glu238Gln)
c.646G>C (p.Glu216Gln)
n.341G>C
c.814G>C (p.Glu272Gln)
c.612G>C
c.625G>C (p.Glu209Gln)
n.340G>C
19g.41422229G=CA2336459011BCKDHAc.712G= (p.Glu238=)
c.646G= (p.Glu216=)
n.341G=
c.814G= (p.Glu272=)
c.612G=
c.625G= (p.Glu209=)
n.340G=
19g.41422229G>TCA406012789BCKDHAc.712G>T (p.Glu238Ter)
c.646G>T (p.Glu216Ter)
n.341G>T
c.814G>T (p.Glu272Ter)
c.612G>T
c.625G>T (p.Glu209Ter)
n.340G>T
 ClinVar dbSNP gnomAD v4
19g.41422230_41422231delCA913016475BCKDHAc.713_714del (p.Glu238GlyfsTer5)
c.647_648del (p.Glu216GlyfsTer5)
n.342_343del
c.815_816del (p.Glu272GlyfsTer5)
c.613_614del
c.626_627del (p.Glu209GlyfsTer5)
n.341_342del
19g.41422230A=CA2336459013BCKDHAc.713A= (p.Glu238=)
c.647A= (p.Glu216=)
n.342A=
c.815A= (p.Glu272=)
c.613A=
c.626A= (p.Glu209=)
n.341A=
19g.41422230A>CCA406012792BCKDHAc.713A>C (p.Glu238Ala)
c.647A>C (p.Glu216Ala)
n.342A>C
c.815A>C (p.Glu272Ala)
c.613A>C
c.626A>C (p.Glu209Ala)
n.341A>C
19g.41422230A>GCA406012790BCKDHAc.713A>G (p.Glu238Gly)
c.647A>G (p.Glu216Gly)
n.342A>G
c.815A>G (p.Glu272Gly)
c.613A>G
c.626A>G (p.Glu209Gly)
n.341A>G
 dbSNP
19g.41422230A>TCA406012791BCKDHAc.713A>T (p.Glu238Val)
c.647A>T (p.Glu216Val)
n.342A>T
c.815A>T (p.Glu272Val)
c.613A>T
c.626A>T (p.Glu209Val)
n.341A>T
19g.41422230_41422231delinsAGCA2336459012BCKDHAc.713_714delinsAG (p.Glu238=)
c.647_648delinsAG (p.Glu216=)
n.342_343delinsAG
c.815_816delinsAG (p.Glu272=)
c.613_614delinsAG
c.626_627delinsAG (p.Glu209=)
n.341_342delinsAG
19g.41422231G>ACA507690460BCKDHAc.714G>A (p.Glu238=)
c.648G>A (p.Glu216=)
n.343G>A
c.816G>A (p.Glu272=)
c.614G>A
c.627G>A (p.Glu209=)
n.342G>A
19g.41422231G>CCA308524156BCKDHAc.714G>C (p.Glu238Asp)
c.648G>C (p.Glu216Asp)
n.343G>C
c.816G>C (p.Glu272Asp)
c.614G>C
c.627G>C (p.Glu209Asp)
n.342G>C
 dbSNP
19g.41422231G=CA2336459014BCKDHAc.714G= (p.Glu238=)
c.648G= (p.Glu216=)
n.343G=
c.816G= (p.Glu272=)
c.614G=
c.627G= (p.Glu209=)
n.342G=
19g.41422231G>TCA406012793BCKDHAc.714G>T (p.Glu238Asp)
c.648G>T (p.Glu216Asp)
n.343G>T
c.816G>T (p.Glu272Asp)
c.614G>T
c.627G>T (p.Glu209Asp)
n.342G>T
19g.41422235dupCA2814427392BCKDHAc.718dup (p.Ala240GlyfsTer4)
c.652dup (p.Ala218GlyfsTer4)
n.347dup
c.820dup (p.Ala274GlyfsTer4)
c.618dup
c.631dup (p.Ala211GlyfsTer4)
n.346dup
19g.41422235delCA658820749BCKDHAc.718del (p.Ala240GlnfsTer?)
c.652del (p.Ala218GlnfsTer?)
n.347del
c.820del (p.Ala274GlnfsTer?)
c.618del
c.631del (p.Ala211GlnfsTer?)
n.346del
 ClinVar dbSNP gnomAD v4
19g.41422232G>ACA406012794BCKDHAc.715G>A (p.Gly239Arg)
c.649G>A (p.Gly217Arg)
n.344G>A
c.817G>A (p.Gly273Arg)
c.615G>A
c.628G>A (p.Gly210Arg)
n.343G>A
 gnomAD v4
19g.41422232G>CCA406012795BCKDHAc.715G>C (p.Gly239Arg)
c.649G>C (p.Gly217Arg)
n.344G>C
c.817G>C (p.Gly273Arg)
c.615G>C
c.628G>C (p.Gly210Arg)
n.343G>C
19g.41422232G>TCA406012796BCKDHAc.715G>T (p.Gly239Trp)
c.649G>T (p.Gly217Trp)
n.344G>T
c.817G>T (p.Gly273Trp)
c.615G>T
c.628G>T (p.Gly210Trp)
n.343G>T
19g.41422233G>ACA406012797BCKDHAc.716G>A (p.Gly239Glu)
c.650G>A (p.Gly217Glu)
n.345G>A
c.818G>A (p.Gly273Glu)
c.616G>A
c.629G>A (p.Gly210Glu)
n.344G>A
 gnomAD v4
19g.41422233G>CCA406012798BCKDHAc.716G>C (p.Gly239Ala)
c.650G>C (p.Gly217Ala)
n.345G>C
c.818G>C (p.Gly273Ala)
c.616G>C
c.629G>C (p.Gly210Ala)
n.344G>C
19g.41422233G>TCA406012799BCKDHAc.716G>T (p.Gly239Val)
c.650G>T (p.Gly217Val)
n.345G>T
c.818G>T (p.Gly273Val)
c.616G>T
c.629G>T (p.Gly210Val)
n.344G>T
19g.41422234G>ACA507690472BCKDHAc.717G>A (p.Gly239=)
c.651G>A (p.Gly217=)
n.346G>A
c.819G>A (p.Gly273=)
c.617G>A
c.630G>A (p.Gly210=)
n.345G>A
 gnomAD v4
19g.41422234G>CCA507690470BCKDHAc.717G>C (p.Gly239=)
c.651G>C (p.Gly217=)
n.346G>C
c.819G>C (p.Gly273=)
c.617G>C
c.630G>C (p.Gly210=)
n.345G>C
19g.41422234G>TCA507690471BCKDHAc.717G>T (p.Gly239=)
c.651G>T (p.Gly217=)
n.346G>T
c.819G>T (p.Gly273=)
c.617G>T
c.630G>T (p.Gly210=)
n.345G>T
19g.41422235G>ACA406012800BCKDHAc.718G>A (p.Ala240Thr)
c.652G>A (p.Ala218Thr)
n.347G>A
c.820G>A (p.Ala274Thr)
c.618G>A
c.631G>A (p.Ala211Thr)
n.346G>A
 gnomAD v4
19g.41422235G>CCA406012801BCKDHAc.718G>C (p.Ala240Pro)
c.652G>C (p.Ala218Pro)
n.347G>C
c.820G>C (p.Ala274Pro)
c.618G>C
c.631G>C (p.Ala211Pro)
n.346G>C
19g.41422235G>TCA406012802BCKDHAc.718G>T (p.Ala240Ser)
c.652G>T (p.Ala218Ser)
n.347G>T
c.820G>T (p.Ala274Ser)
c.618G>T
c.631G>T (p.Ala211Ser)
n.346G>T
19g.41422236C>ACA406012804BCKDHAc.719C>A (p.Ala240Glu)
c.653C>A (p.Ala218Glu)
n.348C>A
c.821C>A (p.Ala274Glu)
c.619C>A
c.632C>A (p.Ala211Glu)
n.347C>A
 gnomAD v4
19g.41422236C=CA2336459015BCKDHAc.719C= (p.Ala240=)
c.653C= (p.Ala218=)
n.348C=
c.821C= (p.Ala274=)
c.619C=
c.632C= (p.Ala211=)
n.347C=
19g.41422236C>GCA406012805BCKDHAc.719C>G (p.Ala240Gly)
c.653C>G (p.Ala218Gly)
n.348C>G
c.821C>G (p.Ala274Gly)
c.619C>G
c.632C>G (p.Ala211Gly)
n.347C>G
19g.41422236C>TCA406012803BCKDHAc.719C>T (p.Ala240Val)
c.653C>T (p.Ala218Val)
n.348C>T
c.821C>T (p.Ala274Val)
c.619C>T
c.632C>T (p.Ala211Val)
n.347C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422237A>CCA507690476BCKDHAc.720A>C (p.Ala240=)
c.654A>C (p.Ala218=)
n.349A>C
c.822A>C (p.Ala274=)
c.620A>C
c.633A>C (p.Ala211=)
n.348A>C
19g.41422237A>GCA507690477BCKDHAc.720A>G (p.Ala240=)
c.654A>G (p.Ala218=)
n.349A>G
c.822A>G (p.Ala274=)
c.620A>G
c.633A>G (p.Ala211=)
n.348A>G
 gnomAD v4
19g.41422237A>TCA507690479BCKDHAc.720A>T (p.Ala240=)
c.654A>T (p.Ala218=)
n.349A>T
c.822A>T (p.Ala274=)
c.620A>T
c.633A>T (p.Ala211=)
n.348A>T
19g.41422238G>ACA9461246BCKDHAc.721G>A (p.Ala241Thr)
c.655G>A (p.Ala219Thr)
n.350G>A
c.823G>A (p.Ala275Thr)
c.621G>A
c.634G>A (p.Ala212Thr)
n.349G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422238G>CCA406012806BCKDHAc.721G>C (p.Ala241Pro)
c.655G>C (p.Ala219Pro)
n.350G>C
c.823G>C (p.Ala275Pro)
c.621G>C
c.634G>C (p.Ala212Pro)
n.349G>C
19g.41422238G=CA2336459016BCKDHAc.721G= (p.Ala241=)
c.655G= (p.Ala219=)
n.350G=
c.823G= (p.Ala275=)
c.621G=
c.634G= (p.Ala212=)
n.349G=
19g.41422238G>TCA406012807BCKDHAc.721G>T (p.Ala241Ser)
c.655G>T (p.Ala219Ser)
n.350G>T
c.823G>T (p.Ala275Ser)
c.621G>T
c.634G>T (p.Ala212Ser)
n.349G>T
19g.41422239C>ACA406012808BCKDHAc.722C>A (p.Ala241Asp)
c.656C>A (p.Ala219Asp)
n.351C>A
c.824C>A (p.Ala275Asp)
c.622C>A
c.635C>A (p.Ala212Asp)
n.350C>A
19g.41422239C>GCA406012809BCKDHAc.722C>G (p.Ala241Gly)
c.656C>G (p.Ala219Gly)
n.351C>G
c.824C>G (p.Ala275Gly)
c.622C>G
c.635C>G (p.Ala212Gly)
n.350C>G
19g.41422239C>TCA406012810BCKDHAc.722C>T (p.Ala241Val)
c.656C>T (p.Ala219Val)
n.351C>T
c.824C>T (p.Ala275Val)
c.622C>T
c.635C>T (p.Ala212Val)
n.350C>T
19g.41422240C>ACA507690482BCKDHAc.723C>A (p.Ala241=)
c.657C>A (p.Ala219=)
n.352C>A
c.825C>A (p.Ala275=)
c.623C>A
c.636C>A (p.Ala212=)
n.351C>A
19g.41422240C>GCA507690483BCKDHAc.723C>G (p.Ala241=)
c.657C>G (p.Ala219=)
n.352C>G
c.825C>G (p.Ala275=)
c.623C>G
c.636C>G (p.Ala212=)
n.351C>G
19g.41422240C>TCA507690484BCKDHAc.723C>T (p.Ala241=)
c.657C>T (p.Ala219=)
n.352C>T
c.825C>T (p.Ala275=)
c.623C>T
c.636C>T (p.Ala212=)
n.351C>T
 ClinVar dbSNP gnomAD v4
19g.41422241A=CA2336459017BCKDHAc.724A= (p.Ser242=)
c.658A= (p.Ser220=)
n.353A=
c.826A= (p.Ser276=)
c.624A=
c.637A= (p.Ser213=)
n.352A=
19g.41422241A>CCA406012812BCKDHAc.724A>C (p.Ser242Arg)
c.658A>C (p.Ser220Arg)
n.353A>C
c.826A>C (p.Ser276Arg)
c.624A>C
c.637A>C (p.Ser213Arg)
n.352A>C
19g.41422241A>GCA9461247BCKDHAc.724A>G (p.Ser242Gly)
c.658A>G (p.Ser220Gly)
n.353A>G
c.826A>G (p.Ser276Gly)
c.624A>G
c.637A>G (p.Ser213Gly)
n.352A>G
 dbSNP ExAC gnomAD v2
19g.41422241A>TCA406012811BCKDHAc.724A>T (p.Ser242Cys)
c.658A>T (p.Ser220Cys)
n.353A>T
c.826A>T (p.Ser276Cys)
c.624A>T
c.637A>T (p.Ser213Cys)
n.352A>T
19g.41422242G>ACA406012813BCKDHAc.725G>A (p.Ser242Asn)
c.659G>A (p.Ser220Asn)
n.354G>A
c.827G>A (p.Ser276Asn)
c.625G>A
c.638G>A (p.Ser213Asn)
n.353G>A
19g.41422242G>CCA406012814BCKDHAc.725G>C (p.Ser242Thr)
c.659G>C (p.Ser220Thr)
n.354G>C
c.827G>C (p.Ser276Thr)
c.625G>C
c.638G>C (p.Ser213Thr)
n.353G>C
19g.41422242G>TCA406012815BCKDHAc.725G>T (p.Ser242Ile)
c.659G>T (p.Ser220Ile)
n.354G>T
c.827G>T (p.Ser276Ile)
c.625G>T
c.638G>T (p.Ser213Ile)
n.353G>T
19g.41422243T>ACA406012816BCKDHAc.726T>A (p.Ser242Arg)
c.660T>A (p.Ser220Arg)
n.355T>A
c.828T>A (p.Ser276Arg)
c.626T>A
c.639T>A (p.Ser213Arg)
n.354T>A
19g.41422243T>CCA9461248BCKDHAc.726T>C (p.Ser242=)
c.660T>C (p.Ser220=)
n.355T>C
c.828T>C (p.Ser276=)
c.626T>C
c.639T>C (p.Ser213=)
n.354T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422243T>GCA406012817BCKDHAc.726T>G (p.Ser242Arg)
c.660T>G (p.Ser220Arg)
n.355T>G
c.828T>G (p.Ser276Arg)
c.626T>G
c.639T>G (p.Ser213Arg)
n.354T>G
19g.41422243T=CA2336459018BCKDHAc.726T= (p.Ser242=)
c.660T= (p.Ser220=)
n.355T=
c.828T= (p.Ser276=)
c.626T=
c.639T= (p.Ser213=)
n.354T=
19g.41422244G>ACA406012818BCKDHAc.727G>A (p.Glu243Lys)
c.661G>A (p.Glu221Lys)
n.356G>A
c.829G>A (p.Glu277Lys)
c.627G>A
c.640G>A (p.Glu214Lys)
n.355G>A
19g.41422244G>CCA406012820BCKDHAc.727G>C (p.Glu243Gln)
c.661G>C (p.Glu221Gln)
n.356G>C
c.829G>C (p.Glu277Gln)
c.627G>C
c.640G>C (p.Glu214Gln)
n.355G>C
19g.41422244G>TCA406012819BCKDHAc.727G>T (p.Glu243Ter)
c.661G>T (p.Glu221Ter)
n.356G>T
c.829G>T (p.Glu277Ter)
c.627G>T
c.640G>T (p.Glu214Ter)
n.355G>T
19g.41422245A=CA2336459019BCKDHAc.728A= (p.Glu243=)
c.662A= (p.Glu221=)
n.357A=
c.830A= (p.Glu277=)
c.628A=
c.641A= (p.Glu214=)
n.356A=
19g.41422245A>CCA406012821BCKDHAc.728A>C (p.Glu243Ala)
c.662A>C (p.Glu221Ala)
n.357A>C
c.830A>C (p.Glu277Ala)
c.628A>C
c.641A>C (p.Glu214Ala)
n.356A>C
 dbSNP gnomAD v2 gnomAD v4
19g.41422245A>GCA406012822BCKDHAc.728A>G (p.Glu243Gly)
c.662A>G (p.Glu221Gly)
n.357A>G
c.830A>G (p.Glu277Gly)
c.628A>G
c.641A>G (p.Glu214Gly)
n.356A>G
19g.41422245A>TCA406012823BCKDHAc.728A>T (p.Glu243Val)
c.662A>T (p.Glu221Val)
n.357A>T
c.830A>T (p.Glu277Val)
c.628A>T
c.641A>T (p.Glu214Val)
n.356A>T
19g.41422246G>ACA9461249BCKDHAc.729G>A (p.Glu243=)
c.663G>A (p.Glu221=)
n.358G>A
c.831G>A (p.Glu277=)
c.629G>A
c.642G>A (p.Glu214=)
n.357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422246G>CCA406012824BCKDHAc.729G>C (p.Glu243Asp)
c.663G>C (p.Glu221Asp)
n.358G>C
c.831G>C (p.Glu277Asp)
c.629G>C
c.642G>C (p.Glu214Asp)
n.357G>C
19g.41422246G=CA2336459020BCKDHAc.729G= (p.Glu243=)
c.663G= (p.Glu221=)
n.358G=
c.831G= (p.Glu277=)
c.629G=
c.642G= (p.Glu214=)
n.357G=
19g.41422246G>TCA406012825BCKDHAc.729G>T (p.Glu243Asp)
c.663G>T (p.Glu221Asp)
n.358G>T
c.831G>T (p.Glu277Asp)
c.629G>T
c.642G>T (p.Glu214Asp)
n.357G>T
19g.41422250dupCA2814427397BCKDHAc.733dup (p.Asp245GlyfsTer13)
c.667dup (p.Asp223GlyfsTer13)
n.362dup
c.835dup (p.Asp279GlyfsTer13)
c.646dup (p.Asp216GlyfsTer13)
n.361dup
19g.41422247G>ACA406012826BCKDHAc.730G>A (p.Gly244Arg)
c.664G>A (p.Gly222Arg)
n.359G>A
c.832G>A (p.Gly278Arg)
c.630G>A
c.643G>A (p.Gly215Arg)
n.358G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422247G>CCA406012827BCKDHAc.730G>C (p.Gly244Arg)
c.664G>C (p.Gly222Arg)
n.359G>C
c.832G>C (p.Gly278Arg)
c.630G>C
c.643G>C (p.Gly215Arg)
n.358G>C
19g.41422247G=CA2336459021BCKDHAc.730G= (p.Gly244=)
c.664G= (p.Gly222=)
n.359G=
c.832G= (p.Gly278=)
c.630G=
c.643G= (p.Gly215=)
n.358G=
19g.41422247G>TCA406012828BCKDHAc.730G>T (p.Gly244Trp)
c.664G>T (p.Gly222Trp)
n.359G>T
c.832G>T (p.Gly278Trp)
c.630G>T
c.643G>T (p.Gly215Trp)
n.358G>T
19g.41422248G>ACA406012829BCKDHAc.731G>A (p.Gly244Glu)
c.665G>A (p.Gly222Glu)
n.360G>A
c.833G>A (p.Gly278Glu)
c.631G>A
c.644G>A (p.Gly215Glu)
n.359G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422248G>CCA406012830BCKDHAc.731G>C (p.Gly244Ala)
c.665G>C (p.Gly222Ala)
n.360G>C
c.833G>C (p.Gly278Ala)
c.631G>C
c.644G>C (p.Gly215Ala)
n.359G>C
19g.41422248G=CA2336459022BCKDHAc.731G= (p.Gly244=)
c.665G= (p.Gly222=)
n.360G=
c.833G= (p.Gly278=)
c.631G=
c.644G= (p.Gly215=)
n.359G=
19g.41422248G>TCA406012831BCKDHAc.731G>T (p.Gly244Val)
c.665G>T (p.Gly222Val)
n.360G>T
c.833G>T (p.Gly278Val)
c.631G>T
c.644G>T (p.Gly215Val)
n.359G>T
 ClinVar
19g.41422249G>ACA507690502BCKDHAc.732G>A (p.Gly244=)
c.666G>A (p.Gly222=)
n.361G>A
c.834G>A (p.Gly278=)
c.632G>A
c.645G>A (p.Gly215=)
n.360G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422249G>CCA507690500BCKDHAc.732G>C (p.Gly244=)
c.666G>C (p.Gly222=)
n.361G>C
c.834G>C (p.Gly278=)
c.632G>C
c.645G>C (p.Gly215=)
n.360G>C
19g.41422249G=CA2336459023BCKDHAc.732G= (p.Gly244=)
c.666G= (p.Gly222=)
n.361G=
c.834G= (p.Gly278=)
c.632G=
c.645G= (p.Gly215=)
n.360G=
19g.41422249G>TCA507690501BCKDHAc.732G>T (p.Gly244=)
c.666G>T (p.Gly222=)
n.361G>T
c.834G>T (p.Gly278=)
c.632G>T
c.645G>T (p.Gly215=)
n.360G>T
 gnomAD v4
19g.41422250G>ACA406012832BCKDHAc.733G>A (p.Asp245Asn)
c.667G>A (p.Asp223Asn)
n.362G>A
c.835G>A (p.Asp279Asn)
c.646G>A (p.Asp216Asn)
n.361G>A
19g.41422250G>CCA406012834BCKDHAc.733G>C (p.Asp245His)
c.667G>C (p.Asp223His)
n.362G>C
c.835G>C (p.Asp279His)
c.646G>C (p.Asp216His)
n.361G>C
19g.41422250G>TCA406012833BCKDHAc.733G>T (p.Asp245Tyr)
c.667G>T (p.Asp223Tyr)
n.362G>T
c.835G>T (p.Asp279Tyr)
c.646G>T (p.Asp216Tyr)
n.361G>T
19g.41422251A>CCA406012835BCKDHAc.734A>C (p.Asp245Ala)
c.668A>C (p.Asp223Ala)
n.363A>C
c.836A>C (p.Asp279Ala)
c.647A>C (p.Asp216Ala)
n.362A>C
19g.41422251A>GCA406012836BCKDHAc.734A>G (p.Asp245Gly)
c.668A>G (p.Asp223Gly)
n.363A>G
c.836A>G (p.Asp279Gly)
c.647A>G (p.Asp216Gly)
n.362A>G
19g.41422251A>TCA406012837BCKDHAc.734A>T (p.Asp245Val)
c.668A>T (p.Asp223Val)
n.363A>T
c.836A>T (p.Asp279Val)
c.647A>T (p.Asp216Val)
n.362A>T
19g.41422252C>ACA406012838BCKDHAc.735C>A (p.Asp245Glu)
c.669C>A (p.Asp223Glu)
n.364C>A
c.837C>A (p.Asp279Glu)
c.648C>A (p.Asp216Glu)
n.363C>A
19g.41422252C=CA2336459024BCKDHAc.735C= (p.Asp245=)
c.669C= (p.Asp223=)
n.364C=
c.837C= (p.Asp279=)
c.648C= (p.Asp216=)
n.363C=
19g.41422252C>GCA406012839BCKDHAc.735C>G (p.Asp245Glu)
c.669C>G (p.Asp223Glu)
n.364C>G
c.837C>G (p.Asp279Glu)
c.648C>G (p.Asp216Glu)
n.363C>G
19g.41422252C>TCA9461250BCKDHAc.735C>T (p.Asp245=)
c.669C>T (p.Asp223=)
n.364C>T
c.837C>T (p.Asp279=)
c.648C>T (p.Asp216=)
n.363C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422253G>ACA9461251BCKDHAc.736G>A (p.Ala246Thr)
c.670G>A (p.Ala224Thr)
n.365G>A
c.838G>A (p.Ala280Thr)
c.649G>A (p.Ala217Thr)
n.364G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422253G>CCA406012840BCKDHAc.736G>C (p.Ala246Pro)
c.670G>C (p.Ala224Pro)
n.365G>C
c.838G>C (p.Ala280Pro)
c.649G>C (p.Ala217Pro)
n.364G>C
19g.41422253G=CA2336459025BCKDHAc.736G= (p.Ala246=)
c.670G= (p.Ala224=)
n.365G=
c.838G= (p.Ala280=)
c.649G= (p.Ala217=)
n.364G=
19g.41422253G>TCA406012841BCKDHAc.736G>T (p.Ala246Ser)
c.670G>T (p.Ala224Ser)
n.365G>T
c.838G>T (p.Ala280Ser)
c.649G>T (p.Ala217Ser)
n.364G>T
19g.41422254C>ACA406012842BCKDHAc.737C>A (p.Ala246Asp)
c.671C>A (p.Ala224Asp)
n.366C>A
c.839C>A (p.Ala280Asp)
c.650C>A (p.Ala217Asp)
n.365C>A
19g.41422254C=CA2336459026BCKDHAc.737C= (p.Ala246=)
c.671C= (p.Ala224=)
n.366C=
c.839C= (p.Ala280=)
c.650C= (p.Ala217=)
n.365C=
19g.41422254C>GCA406012843BCKDHAc.737C>G (p.Ala246Gly)
c.671C>G (p.Ala224Gly)
n.366C>G
c.839C>G (p.Ala280Gly)
c.650C>G (p.Ala217Gly)
n.365C>G
 dbSNP
19g.41422254C>TCA406012844BCKDHAc.737C>T (p.Ala246Val)
c.671C>T (p.Ala224Val)
n.366C>T
c.839C>T (p.Ala280Val)
c.650C>T (p.Ala217Val)
n.365C>T
19g.41422255C>ACA507690515BCKDHAc.738C>A (p.Ala246=)
c.672C>A (p.Ala224=)
n.367C>A
c.840C>A (p.Ala280=)
c.651C>A (p.Ala217=)
n.366C>A
 dbSNP
19g.41422255C=CA2336459027BCKDHAc.738C= (p.Ala246=)
c.672C= (p.Ala224=)
n.367C=
c.840C= (p.Ala280=)
c.651C= (p.Ala217=)
n.366C=
19g.41422255C>GCA507690512BCKDHAc.738C>G (p.Ala246=)
c.672C>G (p.Ala224=)
n.367C>G
c.840C>G (p.Ala280=)
c.651C>G (p.Ala217=)
n.366C>G
19g.41422255C>TCA507690514BCKDHAc.738C>T (p.Ala246=)
c.672C>T (p.Ala224=)
n.367C>T
c.840C>T (p.Ala280=)
c.651C>T (p.Ala217=)
n.366C>T
19g.41422256C>ACA406012846BCKDHAc.739C>A (p.His247Asn)
c.673C>A (p.His225Asn)
n.368C>A
c.841C>A (p.His281Asn)
c.652C>A (p.His218Asn)
n.367C>A
19g.41422256C>GCA406012847BCKDHAc.739C>G (p.His247Asp)
c.673C>G (p.His225Asp)
n.368C>G
c.841C>G (p.His281Asp)
c.652C>G (p.His218Asp)
n.367C>G
19g.41422256C>TCA406012845BCKDHAc.739C>T (p.His247Tyr)
c.673C>T (p.His225Tyr)
n.368C>T
c.841C>T (p.His281Tyr)
c.652C>T (p.His218Tyr)
n.367C>T
19g.41422257A=CA2336459028BCKDHAc.740A= (p.His247=)
c.674A= (p.His225=)
n.369A=
c.842A= (p.His281=)
c.653A= (p.His218=)
n.368A=
19g.41422257A>CCA406012848BCKDHAc.740A>C (p.His247Pro)
c.674A>C (p.His225Pro)
n.369A>C
c.842A>C (p.His281Pro)
c.653A>C (p.His218Pro)
n.368A>C
19g.41422257A>GCA406012849BCKDHAc.740A>G (p.His247Arg)
c.674A>G (p.His225Arg)
n.369A>G
c.842A>G (p.His281Arg)
c.653A>G (p.His218Arg)
n.368A>G
 ClinVar dbSNP gnomAD v4
19g.41422257A>TCA406012850BCKDHAc.740A>T (p.His247Leu)
c.674A>T (p.His225Leu)
n.369A>T
c.842A>T (p.His281Leu)
c.653A>T (p.His218Leu)
n.368A>T
19g.41422258T>ACA406012851BCKDHAc.741T>A (p.His247Gln)
c.675T>A (p.His225Gln)
n.370T>A
c.843T>A (p.His281Gln)
c.654T>A (p.His218Gln)
n.369T>A
 dbSNP
19g.41422258T>CCA507690521BCKDHAc.741T>C (p.His247=)
c.675T>C (p.His225=)
n.370T>C
c.843T>C (p.His281=)
c.654T>C (p.His218=)
n.369T>C
19g.41422258T>GCA406012852BCKDHAc.741T>G (p.His247Gln)
c.675T>G (p.His225Gln)
n.370T>G
c.843T>G (p.His281Gln)
c.654T>G (p.His218Gln)
n.369T>G
19g.41422258T=CA2336459029BCKDHAc.741T= (p.His247=)
c.675T= (p.His225=)
n.370T=
c.843T= (p.His281=)
c.654T= (p.His218=)
n.369T=
19g.41422258dupCA221212BCKDHAc.741dup (p.Ala248CysfsTer10)
c.675dup (p.Ala226CysfsTer10)
n.370dup
c.843dup (p.Ala282CysfsTer10)
c.654dup (p.Ala219CysfsTer10)
n.369dup
 ClinVar dbSNP
19g.41422259G>ACA406012853BCKDHAc.742G>A (p.Ala248Thr)
c.676G>A (p.Ala226Thr)
n.371G>A
c.844G>A (p.Ala282Thr)
c.655G>A (p.Ala219Thr)
n.370G>A
19g.41422259G>CCA406012855BCKDHAc.742G>C (p.Ala248Pro)
c.676G>C (p.Ala226Pro)
n.371G>C
c.844G>C (p.Ala282Pro)
c.655G>C (p.Ala219Pro)
n.370G>C
19g.41422259G>TCA406012854BCKDHAc.742G>T (p.Ala248Ser)
c.676G>T (p.Ala226Ser)
n.371G>T
c.844G>T (p.Ala282Ser)
c.655G>T (p.Ala219Ser)
n.370G>T
19g.41422260C>ACA406012856BCKDHAc.743C>A (p.Ala248Asp)
c.677C>A (p.Ala226Asp)
n.372C>A
c.845C>A (p.Ala282Asp)
c.656C>A (p.Ala219Asp)
n.371C>A
19g.41422260C=CA2336459030BCKDHAc.743C= (p.Ala248=)
c.677C= (p.Ala226=)
n.372C=
c.845C= (p.Ala282=)
c.656C= (p.Ala219=)
n.371C=
19g.41422260C>GCA406012857BCKDHAc.743C>G (p.Ala248Gly)
c.677C>G (p.Ala226Gly)
n.372C>G
c.845C>G (p.Ala282Gly)
c.656C>G (p.Ala219Gly)
n.371C>G
19g.41422260C>TCA308524255BCKDHAc.743C>T (p.Ala248Val)
c.677C>T (p.Ala226Val)
n.372C>T
c.845C>T (p.Ala282Val)
c.656C>T (p.Ala219Val)
n.371C>T
 ClinVar dbSNP
19g.41422261C>ACA507690525BCKDHAc.744C>A (p.Ala248=)
c.678C>A (p.Ala226=)
n.373C>A
c.846C>A (p.Ala282=)
c.657C>A (p.Ala219=)
n.372C>A
 dbSNP gnomAD v4
19g.41422261C=CA2336459031BCKDHAc.744C= (p.Ala248=)
c.678C= (p.Ala226=)
n.373C=
c.846C= (p.Ala282=)
c.657C= (p.Ala219=)
n.372C=
19g.41422261C>GCA507690527BCKDHAc.744C>G (p.Ala248=)
c.678C>G (p.Ala226=)
n.373C>G
c.846C>G (p.Ala282=)
c.657C>G (p.Ala219=)
n.372C>G
 gnomAD v4
19g.41422261C>TCA9461252BCKDHAc.744C>T (p.Ala248=)
c.678C>T (p.Ala226=)
n.373C>T
c.846C>T (p.Ala282=)
c.657C>T (p.Ala219=)
n.372C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>ACA115515BCKDHAc.745G>A (p.Gly249Ser)
c.679G>A (p.Gly227Ser)
n.374G>A
c.847G>A (p.Gly283Ser)
c.658G>A (p.Gly220Ser)
n.373G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>CCA406012859BCKDHAc.745G>C (p.Gly249Arg)
c.679G>C (p.Gly227Arg)
n.374G>C
c.847G>C (p.Gly283Arg)
c.658G>C (p.Gly220Arg)
n.373G>C
19g.41422262G=CA2336459032BCKDHAc.745G= (p.Gly249=)
c.679G= (p.Gly227=)
n.374G=
c.847G= (p.Gly283=)
c.658G= (p.Gly220=)
n.373G=
19g.41422262G>TCA406012858BCKDHAc.745G>T (p.Gly249Cys)
c.679G>T (p.Gly227Cys)
n.374G>T
c.847G>T (p.Gly283Cys)
c.658G>T (p.Gly220Cys)
n.373G>T
 ClinVar dbSNP
19g.41422263G>ACA406012860BCKDHAc.746G>A (p.Gly249Asp)
c.680G>A (p.Gly227Asp)
n.375G>A
c.848G>A (p.Gly283Asp)
c.659G>A (p.Gly220Asp)
n.374G>A
19g.41422263G>CCA312362BCKDHAc.746G>C (p.Gly249Ala)
c.680G>C (p.Gly227Ala)
n.375G>C
c.848G>C (p.Gly283Ala)
c.659G>C (p.Gly220Ala)
n.374G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422263G=CA2336459033BCKDHAc.746G= (p.Gly249=)
c.680G= (p.Gly227=)
n.375G=
c.848G= (p.Gly283=)
c.659G= (p.Gly220=)
n.374G=
19g.41422263G>TCA406012861BCKDHAc.746G>T (p.Gly249Val)
c.680G>T (p.Gly227Val)
n.375G>T
c.848G>T (p.Gly283Val)
c.659G>T (p.Gly220Val)
n.374G>T
 ClinVar
19g.41422263_41422264delCA2695198206BCKDHAc.746_747del (p.Gly249ValfsTer8)
c.680_681del (p.Gly227ValfsTer8)
n.375_376del
c.848_849del (p.Gly283ValfsTer8)
c.659_660del (p.Gly220ValfsTer8)
n.374_375del
 ClinVar
19g.41422264C>ACA507690530BCKDHAc.747C>A (p.Gly249=)
c.681C>A (p.Gly227=)
n.376C>A
c.849C>A (p.Gly283=)
c.660C>A (p.Gly220=)
n.375C>A
19g.41422264C>GCA507690531BCKDHAc.747C>G (p.Gly249=)
c.681C>G (p.Gly227=)
n.376C>G
c.849C>G (p.Gly283=)
c.660C>G (p.Gly220=)
n.375C>G
19g.41422264C>TCA507690529BCKDHAc.747C>T (p.Gly249=)
c.681C>T (p.Gly227=)
n.376C>T
c.849C>T (p.Gly283=)
c.660C>T (p.Gly220=)
n.375C>T
19g.41422265T>ACA406012862BCKDHAc.748T>A (p.Phe250Ile)
c.682T>A (p.Phe228Ile)
n.377T>A
c.850T>A (p.Phe284Ile)
c.661T>A (p.Phe221Ile)
n.376T>A
19g.41422265T>CCA406012864BCKDHAc.748T>C (p.Phe250Leu)
c.682T>C (p.Phe228Leu)
n.377T>C
c.850T>C (p.Phe284Leu)
c.661T>C (p.Phe221Leu)
n.376T>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422265T>GCA406012863BCKDHAc.748T>G (p.Phe250Val)
c.682T>G (p.Phe228Val)
n.377T>G
c.850T>G (p.Phe284Val)
c.661T>G (p.Phe221Val)
n.376T>G
19g.41422265T=CA2336459034BCKDHAc.748T= (p.Phe250=)
c.682T= (p.Phe228=)
n.377T=
c.850T= (p.Phe284=)
c.661T= (p.Phe221=)
n.376T=
19g.41422266T>ACA406012865BCKDHAc.749T>A (p.Phe250Tyr)
c.683T>A (p.Phe228Tyr)
n.378T>A
c.851T>A (p.Phe284Tyr)
c.662T>A (p.Phe221Tyr)
n.377T>A
19g.41422266T>CCA406012867BCKDHAc.749T>C (p.Phe250Ser)
c.683T>C (p.Phe228Ser)
n.378T>C
c.851T>C (p.Phe284Ser)
c.662T>C (p.Phe221Ser)
n.377T>C
19g.41422266T>GCA406012866BCKDHAc.749T>G (p.Phe250Cys)
c.683T>G (p.Phe228Cys)
n.378T>G
c.851T>G (p.Phe284Cys)
c.662T>G (p.Phe221Cys)
n.377T>G

Number of alleles fetched