Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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

Number of alleles fetched