Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410670C>ACA406004600BCKDHAc.142C>A (p.Leu48Met)
c.76C>A (p.Leu26Met)
n.162C>A
c.244C>A (p.Leu82Met)
n.384C>A
19g.41410670C>GCA406004601BCKDHAc.142C>G (p.Leu48Val)
c.76C>G (p.Leu26Val)
n.162C>G
c.244C>G (p.Leu82Val)
n.384C>G
19g.41410670C>TCA507555391BCKDHAc.142C>T (p.Leu48=)
c.76C>T (p.Leu26=)
n.162C>T
c.244C>T (p.Leu82=)
n.384C>T
19g.41410670_41410671delinsCTCA2336453771BCKDHAc.142_143delinsCT (p.Leu48=)
c.76_77delinsCT (p.Leu26=)
n.162_163delinsCT
c.244_245delinsCT (p.Leu82=)
n.384_385delinsCT
19g.41410671delCA658799238BCKDHAc.143del (p.Leu48ArgfsTer15)
c.77del (p.Leu26ArgfsTer15)
n.163del
c.245del (p.Leu82ArgfsTer15)
n.385del
 ClinVar dbSNP
19g.41410671T>ACA406004602BCKDHAc.143T>A (p.Leu48Gln)
c.77T>A (p.Leu26Gln)
n.163T>A
c.245T>A (p.Leu82Gln)
n.385T>A
 dbSNP
19g.41410671T>CCA10642867BCKDHAc.143T>C (p.Leu48Pro)
c.77T>C (p.Leu26Pro)
n.163T>C
c.245T>C (p.Leu82Pro)
n.385T>C
 ClinVar dbSNP
19g.41410671T>GCA406004603BCKDHAc.143T>G (p.Leu48Arg)
c.77T>G (p.Leu26Arg)
n.163T>G
c.245T>G (p.Leu82Arg)
n.385T>G
19g.41410671T=CA2336453772BCKDHAc.143T= (p.Leu48=)
c.77T= (p.Leu26=)
n.163T=
c.245T= (p.Leu82=)
n.385T=
19g.41410672G>ACA507555392BCKDHAc.144G>A (p.Leu48=)
c.78G>A (p.Leu26=)
n.164G>A
c.246G>A (p.Leu82=)
n.386G>A
19g.41410672G>CCA507555393BCKDHAc.144G>C (p.Leu48=)
c.78G>C (p.Leu26=)
n.164G>C
c.246G>C (p.Leu82=)
n.386G>C
19g.41410672G>TCA507555394BCKDHAc.144G>T (p.Leu48=)
c.78G>T (p.Leu26=)
n.164G>T
c.246G>T (p.Leu82=)
n.386G>T
19g.41410673G>ACA406004604BCKDHAc.145G>A (p.Asp49Asn)
c.79G>A (p.Asp27Asn)
n.165G>A
c.247G>A (p.Asp83Asn)
n.387G>A
19g.41410673G>CCA406004605BCKDHAc.145G>C (p.Asp49His)
c.79G>C (p.Asp27His)
n.165G>C
c.247G>C (p.Asp83His)
n.387G>C
19g.41410673G=CA2336453773BCKDHAc.145G= (p.Asp49=)
c.79G= (p.Asp27=)
n.165G=
c.247G= (p.Asp83=)
n.387G=
19g.41410673G>TCA9461010BCKDHAc.145G>T (p.Asp49Tyr)
c.79G>T (p.Asp27Tyr)
n.165G>T
c.247G>T (p.Asp83Tyr)
n.387G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410674A>CCA406004607BCKDHAc.146A>C (p.Asp49Ala)
c.80A>C (p.Asp27Ala)
n.166A>C
c.248A>C (p.Asp83Ala)
n.388A>C
19g.41410674A>GCA406004608BCKDHAc.146A>G (p.Asp49Gly)
c.80A>G (p.Asp27Gly)
n.166A>G
c.248A>G (p.Asp83Gly)
n.388A>G
19g.41410674A>TCA406004606BCKDHAc.146A>T (p.Asp49Val)
c.80A>T (p.Asp27Val)
n.166A>T
c.248A>T (p.Asp83Val)
n.388A>T
19g.41410675T>ACA406004609BCKDHAc.147T>A (p.Asp49Glu)
c.81T>A (p.Asp27Glu)
n.167T>A
c.249T>A (p.Asp83Glu)
n.389T>A
19g.41410675T>CCA507555395BCKDHAc.147T>C (p.Asp49=)
c.81T>C (p.Asp27=)
n.167T>C
c.249T>C (p.Asp83=)
n.389T>C
19g.41410675T>GCA406004610BCKDHAc.147T>G (p.Asp49Glu)
c.81T>G (p.Asp27Glu)
n.167T>G
c.249T>G (p.Asp83Glu)
n.389T>G
19g.41410676G>ACA406004611BCKDHAc.148G>A (p.Asp50Asn)
c.82G>A (p.Asp28Asn)
n.168G>A
c.250G>A (p.Asp84Asn)
n.390G>A
 dbSNP
19g.41410676G>CCA9461011BCKDHAc.148G>C (p.Asp50His)
c.82G>C (p.Asp28His)
n.168G>C
c.250G>C (p.Asp84His)
n.390G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410676G=CA2336453774BCKDHAc.148G= (p.Asp50=)
c.82G= (p.Asp28=)
n.168G=
c.250G= (p.Asp84=)
n.390G=
19g.41410676G>TCA406004612BCKDHAc.148G>T (p.Asp50Tyr)
c.82G>T (p.Asp28Tyr)
n.168G>T
c.250G>T (p.Asp84Tyr)
n.390G>T
19g.41410677A>CCA406004613BCKDHAc.149A>C (p.Asp50Ala)
c.83A>C (p.Asp28Ala)
n.169A>C
c.251A>C (p.Asp84Ala)
n.391A>C
19g.41410677A>GCA406004614BCKDHAc.149A>G (p.Asp50Gly)
c.83A>G (p.Asp28Gly)
n.169A>G
c.251A>G (p.Asp84Gly)
n.391A>G
19g.41410677A>TCA406004615BCKDHAc.149A>T (p.Asp50Val)
c.83A>T (p.Asp28Val)
n.169A>T
c.251A>T (p.Asp84Val)
n.391A>T
19g.41410678C>ACA406004616BCKDHAc.150C>A (p.Asp50Glu)
c.84C>A (p.Asp28Glu)
n.170C>A
c.252C>A (p.Asp84Glu)
n.392C>A
19g.41410678C=CA2336453775BCKDHAc.150C= (p.Asp50=)
c.84C= (p.Asp28=)
n.170C=
c.252C= (p.Asp84=)
n.392C=
19g.41410678C>GCA406004617BCKDHAc.150C>G (p.Asp50Glu)
c.84C>G (p.Asp28Glu)
n.170C>G
c.252C>G (p.Asp84Glu)
n.392C>G
 gnomAD v4
19g.41410678C>TCA507555396BCKDHAc.150C>T (p.Asp50=)
c.84C>T (p.Asp28=)
n.170C>T
c.252C>T (p.Asp84=)
n.392C>T
 dbSNP gnomAD v4
19g.41410679A>CCA406004618BCKDHAc.151A>C (p.Lys51Gln)
c.85A>C (p.Lys29Gln)
n.171A>C
c.253A>C (p.Lys85Gln)
n.393A>C
19g.41410679A>GCA406004619BCKDHAc.151A>G (p.Lys51Glu)
c.85A>G (p.Lys29Glu)
n.171A>G
c.253A>G (p.Lys85Glu)
n.393A>G
19g.41410679A>TCA406004620BCKDHAc.151A>T (p.Lys51Ter)
c.85A>T (p.Lys29Ter)
n.171A>T
c.253A>T (p.Lys85Ter)
n.393A>T
19g.41410680A>CCA406004623BCKDHAc.152A>C (p.Lys51Thr)
c.86A>C (p.Lys29Thr)
n.172A>C
c.254A>C (p.Lys85Thr)
n.394A>C
19g.41410680A>GCA406004622BCKDHAc.152A>G (p.Lys51Arg)
c.86A>G (p.Lys29Arg)
n.172A>G
c.254A>G (p.Lys85Arg)
n.394A>G
19g.41410680A>TCA406004621BCKDHAc.152A>T (p.Lys51Met)
c.86A>T (p.Lys29Met)
n.172A>T
c.254A>T (p.Lys85Met)
n.394A>T
 COSMIC
19g.41410681G>ACA507555397BCKDHAc.153G>A (p.Lys51=)
c.87G>A (p.Lys29=)
n.173G>A
c.255G>A (p.Lys85=)
n.395G>A
 gnomAD v4
19g.41410681G>CCA406004624BCKDHAc.153G>C (p.Lys51Asn)
c.87G>C (p.Lys29Asn)
n.173G>C
c.255G>C (p.Lys85Asn)
n.395G>C
19g.41410681G>TCA406004625BCKDHAc.153G>T (p.Lys51Asn)
c.87G>T (p.Lys29Asn)
n.173G>T
c.255G>T (p.Lys85Asn)
n.395G>T
 gnomAD v4
19g.41410682C>ACA406004626BCKDHAc.154C>A (p.Pro52Thr)
c.88C>A (p.Pro30Thr)
n.174C>A
c.256C>A (p.Pro86Thr)
n.396C>A
19g.41410682C>GCA406004627BCKDHAc.154C>G (p.Pro52Ala)
c.88C>G (p.Pro30Ala)
n.174C>G
c.256C>G (p.Pro86Ala)
n.396C>G
19g.41410682C>TCA406004628BCKDHAc.154C>T (p.Pro52Ser)
c.88C>T (p.Pro30Ser)
n.174C>T
c.256C>T (p.Pro86Ser)
n.396C>T
 gnomAD v4
19g.41410683C>ACA406004629BCKDHAc.155C>A (p.Pro52His)
c.89C>A (p.Pro30His)
n.175C>A
c.257C>A (p.Pro86His)
n.397C>A
19g.41410683C>GCA406004630BCKDHAc.155C>G (p.Pro52Arg)
c.89C>G (p.Pro30Arg)
n.175C>G
c.257C>G (p.Pro86Arg)
n.397C>G
19g.41410683C>TCA406004631BCKDHAc.155C>T (p.Pro52Leu)
c.89C>T (p.Pro30Leu)
n.175C>T
c.257C>T (p.Pro86Leu)
n.397C>T
19g.41410684C>ACA507555398BCKDHAc.156C>A (p.Pro52=)
c.90C>A (p.Pro30=)
n.176C>A
c.258C>A (p.Pro86=)
n.398C>A
19g.41410684C=CA2336453776BCKDHAc.156C= (p.Pro52=)
c.90C= (p.Pro30=)
n.176C=
c.258C= (p.Pro86=)
n.398C=
19g.41410684C>GCA507555399BCKDHAc.156C>G (p.Pro52=)
c.90C>G (p.Pro30=)
n.176C>G
c.258C>G (p.Pro86=)
n.398C>G
19g.41410684C>TCA507555400BCKDHAc.156C>T (p.Pro52=)
c.90C>T (p.Pro30=)
n.176C>T
c.258C>T (p.Pro86=)
n.398C>T
 ClinVar dbSNP gnomAD v4
19g.41410685C>ACA406004632BCKDHAc.157C>A (p.Gln53Lys)
c.91C>A (p.Gln31Lys)
n.177C>A
c.259C>A (p.Gln87Lys)
n.399C>A
19g.41410685C>GCA406004633BCKDHAc.157C>G (p.Gln53Glu)
c.91C>G (p.Gln31Glu)
n.177C>G
c.259C>G (p.Gln87Glu)
n.399C>G
19g.41410685C>TCA406004634BCKDHAc.157C>T (p.Gln53Ter)
c.91C>T (p.Gln31Ter)
n.177C>T
c.259C>T (p.Gln87Ter)
n.399C>T
19g.41410686A>CCA406004635BCKDHAc.158A>C (p.Gln53Pro)
c.92A>C (p.Gln31Pro)
n.178A>C
c.260A>C (p.Gln87Pro)
n.400A>C
19g.41410686A>GCA406004636BCKDHAc.158A>G (p.Gln53Arg)
c.92A>G (p.Gln31Arg)
n.178A>G
c.260A>G (p.Gln87Arg)
n.400A>G
19g.41410686A>TCA406004637BCKDHAc.158A>T (p.Gln53Leu)
c.92A>T (p.Gln31Leu)
n.178A>T
c.260A>T (p.Gln87Leu)
n.400A>T
19g.41410687G>ACA9461013BCKDHAc.159G>A (p.Gln53=)
c.93G>A (p.Gln31=)
n.179G>A
c.261G>A (p.Gln87=)
n.401G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410687G>CCA9461012BCKDHAc.159G>C (p.Gln53His)
c.93G>C (p.Gln31His)
n.179G>C
c.261G>C (p.Gln87His)
n.401G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410687G=CA2336453777BCKDHAc.159G= (p.Gln53=)
c.93G= (p.Gln31=)
n.179G=
c.261G= (p.Gln87=)
n.401G=
19g.41410687G>TCA406004638BCKDHAc.159G>T (p.Gln53His)
c.93G>T (p.Gln31His)
n.179G>T
c.261G>T (p.Gln87His)
n.401G>T
 dbSNP gnomAD v3 gnomAD v4
19g.41410688T>ACA406004639BCKDHAc.160T>A (p.Phe54Ile)
c.94T>A (p.Phe32Ile)
n.180T>A
c.262T>A (p.Phe88Ile)
n.402T>A
19g.41410688T>CCA406004640BCKDHAc.160T>C (p.Phe54Leu)
c.94T>C (p.Phe32Leu)
n.180T>C
c.262T>C (p.Phe88Leu)
n.402T>C
19g.41410688T>GCA406004641BCKDHAc.160T>G (p.Phe54Val)
c.94T>G (p.Phe32Val)
n.180T>G
c.262T>G (p.Phe88Val)
n.402T>G
19g.41410689T>ACA406004642BCKDHAc.161T>A (p.Phe54Tyr)
c.95T>A (p.Phe32Tyr)
n.181T>A
c.263T>A (p.Phe88Tyr)
n.403T>A
19g.41410689T>CCA406004643BCKDHAc.161T>C (p.Phe54Ser)
c.95T>C (p.Phe32Ser)
n.181T>C
c.263T>C (p.Phe88Ser)
n.403T>C
19g.41410689T>GCA406004644BCKDHAc.161T>G (p.Phe54Cys)
c.95T>G (p.Phe32Cys)
n.181T>G
c.263T>G (p.Phe88Cys)
n.403T>G
19g.41410689_41410690delinsTCCA2336453778BCKDHAc.161_162delinsTC (p.Phe54=)
c.95_96delinsTC (p.Phe32=)
n.181_182delinsTC
c.263_264delinsTC (p.Phe88=)
n.403_404delinsTC
19g.41410690C>ACA406004646BCKDHAc.162C>A (p.Phe54Leu)
c.96C>A (p.Phe32Leu)
n.182C>A
c.264C>A (p.Phe88Leu)
n.404C>A
19g.41410690C>GCA406004645BCKDHAc.162C>G (p.Phe54Leu)
c.96C>G (p.Phe32Leu)
n.182C>G
c.264C>G (p.Phe88Leu)
n.404C>G
19g.41410690C>TCA507555401BCKDHAc.162C>T (p.Phe54=)
c.96C>T (p.Phe32=)
n.182C>T
c.264C>T (p.Phe88=)
n.404C>T
 gnomAD v4
19g.41410692delCA2336453779BCKDHAc.164del (p.Pro55GlnfsTer8)
c.98del (p.Pro33GlnfsTer8)
n.184del
c.266del (p.Pro89GlnfsTer8)
n.406del
 ClinVar dbSNP
19g.41410691C>ACA406004647BCKDHAc.163C>A (p.Pro55Thr)
c.97C>A (p.Pro33Thr)
n.183C>A
c.265C>A (p.Pro89Thr)
n.405C>A
 COSMIC
19g.41410691C>GCA406004648BCKDHAc.163C>G (p.Pro55Ala)
c.97C>G (p.Pro33Ala)
n.183C>G
c.265C>G (p.Pro89Ala)
n.405C>G
19g.41410691C>TCA406004649BCKDHAc.163C>T (p.Pro55Ser)
c.97C>T (p.Pro33Ser)
n.183C>T
c.265C>T (p.Pro89Ser)
n.405C>T
19g.41410692C>ACA406004650BCKDHAc.164C>A (p.Pro55Gln)
c.98C>A (p.Pro33Gln)
n.184C>A
c.266C>A (p.Pro89Gln)
n.406C>A
19g.41410692C>GCA406004651BCKDHAc.164C>G (p.Pro55Arg)
c.98C>G (p.Pro33Arg)
n.184C>G
c.266C>G (p.Pro89Arg)
n.406C>G
 COSMIC
19g.41410692C>TCA406004652BCKDHAc.164C>T (p.Pro55Leu)
c.98C>T (p.Pro33Leu)
n.184C>T
c.266C>T (p.Pro89Leu)
n.406C>T
19g.41410693A=CA2336453780BCKDHAc.165A= (p.Pro55=)
c.99A= (p.Pro33=)
n.185A=
c.267A= (p.Pro89=)
n.407A=
19g.41410693A>CCA507555402BCKDHAc.165A>C (p.Pro55=)
c.99A>C (p.Pro33=)
n.185A>C
c.267A>C (p.Pro89=)
n.407A>C
19g.41410693A>GCA507555404BCKDHAc.165A>G (p.Pro55=)
c.99A>G (p.Pro33=)
n.185A>G
c.267A>G (p.Pro89=)
n.407A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410693A>TCA507555403BCKDHAc.165A>T (p.Pro55=)
c.99A>T (p.Pro33=)
n.185A>T
c.267A>T (p.Pro89=)
n.407A>T
19g.41410694G>ACA406004655BCKDHAc.166G>A (p.Gly56Arg)
c.100G>A (p.Gly34Arg)
n.186G>A
c.268G>A (p.Gly90Arg)
n.408G>A
19g.41410694G>CCA406004653BCKDHAc.166G>C (p.Gly56Arg)
c.100G>C (p.Gly34Arg)
n.186G>C
c.268G>C (p.Gly90Arg)
n.408G>C
19g.41410694G>TCA406004654BCKDHAc.166G>T (p.Gly56Trp)
c.100G>T (p.Gly34Trp)
n.186G>T
c.268G>T (p.Gly90Trp)
n.408G>T
19g.41410695G>ACA406004656BCKDHAc.167G>A (p.Gly56Glu)
c.101G>A (p.Gly34Glu)
n.187G>A
c.269G>A (p.Gly90Glu)
n.409G>A
 gnomAD v4
19g.41410695G>CCA406004657BCKDHAc.167G>C (p.Gly56Ala)
c.101G>C (p.Gly34Ala)
n.187G>C
c.269G>C (p.Gly90Ala)
n.409G>C
19g.41410695G>TCA406004658BCKDHAc.167G>T (p.Gly56Val)
c.101G>T (p.Gly34Val)
n.187G>T
c.269G>T (p.Gly90Val)
n.409G>T
19g.41410696G>ACA507555405BCKDHAc.168G>A (p.Gly56=)
c.102G>A (p.Gly34=)
n.188G>A
c.270G>A (p.Gly90=)
n.410G>A
19g.41410696G>CCA507555406BCKDHAc.168G>C (p.Gly56=)
c.102G>C (p.Gly34=)
n.188G>C
c.270G>C (p.Gly90=)
n.410G>C
19g.41410696G>TCA507555407BCKDHAc.168G>T (p.Gly56=)
c.102G>T (p.Gly34=)
n.188G>T
c.270G>T (p.Gly90=)
n.410G>T
19g.41410697G>ACA9461014BCKDHAc.169G>A (p.Ala57Thr)
c.103G>A (p.Ala35Thr)
n.189G>A
c.271G>A (p.Ala91Thr)
n.411G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410697G>CCA406004659BCKDHAc.169G>C (p.Ala57Pro)
c.103G>C (p.Ala35Pro)
n.189G>C
c.271G>C (p.Ala91Pro)
n.411G>C
 gnomAD v4
19g.41410697G=CA2336453781BCKDHAc.169G= (p.Ala57=)
c.103G= (p.Ala35=)
n.189G=
c.271G= (p.Ala91=)
n.411G=
19g.41410697G>TCA406004660BCKDHAc.169G>T (p.Ala57Ser)
c.103G>T (p.Ala35Ser)
n.189G>T
c.271G>T (p.Ala91Ser)
n.411G>T
 gnomAD v4
19g.41410698C>ACA406004661BCKDHAc.170C>A (p.Ala57Asp)
c.104C>A (p.Ala35Asp)
n.190C>A
c.272C>A (p.Ala91Asp)
n.412C>A
19g.41410698C=CA2336453782BCKDHAc.170C= (p.Ala57=)
c.104C= (p.Ala35=)
n.190C=
c.272C= (p.Ala91=)
n.412C=
19g.41410698C>GCA406004662BCKDHAc.170C>G (p.Ala57Gly)
c.104C>G (p.Ala35Gly)
n.190C>G
c.272C>G (p.Ala91Gly)
n.412C>G
19g.41410698C>TCA406004663BCKDHAc.170C>T (p.Ala57Val)
c.104C>T (p.Ala35Val)
n.190C>T
c.272C>T (p.Ala91Val)
n.412C>T
 dbSNP
19g.41410699C>ACA507555408BCKDHAc.171C>A (p.Ala57=)
c.105C>A (p.Ala35=)
n.191C>A
c.273C>A (p.Ala91=)
n.413C>A
19g.41410699C=CA2336453783BCKDHAc.171C= (p.Ala57=)
c.105C= (p.Ala35=)
n.191C=
c.273C= (p.Ala91=)
n.413C=
19g.41410699C>GCA507555409BCKDHAc.171C>G (p.Ala57=)
c.105C>G (p.Ala35=)
n.191C>G
c.273C>G (p.Ala91=)
n.413C>G
19g.41410699C>TCA507555410BCKDHAc.171C>T (p.Ala57=)
c.105C>T (p.Ala35=)
n.191C>T
c.273C>T (p.Ala91=)
n.413C>T
 ClinVar dbSNP gnomAD v4
19g.41410700T>ACA406004664BCKDHAc.172T>A (p.Ser58Thr)
c.106T>A (p.Ser36Thr)
n.192T>A
c.274T>A (p.Ser92Thr)
n.414T>A
19g.41410700T>CCA406004665BCKDHAc.172T>C (p.Ser58Pro)
c.106T>C (p.Ser36Pro)
n.192T>C
c.274T>C (p.Ser92Pro)
n.414T>C
19g.41410700T>GCA406004666BCKDHAc.172T>G (p.Ser58Ala)
c.106T>G (p.Ser36Ala)
n.192T>G
c.274T>G (p.Ser92Ala)
n.414T>G
19g.41410701C>ACA406004667BCKDHAc.173C>A (p.Ser58Ter)
c.107C>A (p.Ser36Ter)
n.193C>A
c.275C>A (p.Ser92Ter)
n.415C>A
19g.41410701C=CA2336453784BCKDHAc.173C= (p.Ser58=)
c.107C= (p.Ser36=)
n.193C=
c.275C= (p.Ser92=)
n.415C=
19g.41410701C>GCA406004668BCKDHAc.173C>G (p.Ser58Trp)
c.107C>G (p.Ser36Trp)
n.193C>G
c.275C>G (p.Ser92Trp)
n.415C>G
19g.41410701C>TCA308515239BCKDHAc.173C>T (p.Ser58Leu)
c.107C>T (p.Ser36Leu)
n.193C>T
c.275C>T (p.Ser92Leu)
n.415C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41410702G>ACA9461015BCKDHAc.174G>A (p.Ser58=)
c.108G>A (p.Ser36=)
n.194G>A
c.276G>A (p.Ser92=)
n.416G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410702G>CCA507555411BCKDHAc.174G>C (p.Ser58=)
c.108G>C (p.Ser36=)
n.194G>C
c.276G>C (p.Ser92=)
n.416G>C
19g.41410702G=CA2336453785BCKDHAc.174G= (p.Ser58=)
c.108G= (p.Ser36=)
n.194G=
c.276G= (p.Ser92=)
n.416G=
19g.41410702G>TCA9461016BCKDHAc.174G>T (p.Ser58=)
c.108G>T (p.Ser36=)
n.194G>T
c.276G>T (p.Ser92=)
n.416G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410703G>ACA406004669BCKDHAc.175G>A (p.Ala59Thr)
c.109G>A (p.Ala37Thr)
n.195G>A
c.277G>A (p.Ala93Thr)
n.417G>A
19g.41410703G>CCA406004670BCKDHAc.175G>C (p.Ala59Pro)
c.109G>C (p.Ala37Pro)
n.195G>C
c.277G>C (p.Ala93Pro)
n.417G>C
19g.41410703G>TCA406004671BCKDHAc.175G>T (p.Ala59Ser)
c.109G>T (p.Ala37Ser)
n.195G>T
c.277G>T (p.Ala93Ser)
n.417G>T
19g.41410704C>ACA406004672BCKDHAc.176C>A (p.Ala59Glu)
c.110C>A (p.Ala37Glu)
n.196C>A
c.278C>A (p.Ala93Glu)
n.418C>A
19g.41410704C=CA2336453786BCKDHAc.176C= (p.Ala59=)
c.110C= (p.Ala37=)
n.196C=
c.278C= (p.Ala93=)
n.418C=
19g.41410704C>GCA406004673BCKDHAc.176C>G (p.Ala59Gly)
c.110C>G (p.Ala37Gly)
n.196C>G
c.278C>G (p.Ala93Gly)
n.418C>G
19g.41410704C>TCA9461017BCKDHAc.176C>T (p.Ala59Val)
c.110C>T (p.Ala37Val)
n.196C>T
c.278C>T (p.Ala93Val)
n.418C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410705G>ACA9461018BCKDHAc.177G>A (p.Ala59=)
c.111G>A (p.Ala37=)
n.197G>A
c.279G>A (p.Ala93=)
n.419G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410705G>CCA507555412BCKDHAc.177G>C (p.Ala59=)
c.111G>C (p.Ala37=)
n.197G>C
c.279G>C (p.Ala93=)
n.419G>C
19g.41410705G=CA2336453787BCKDHAc.177G= (p.Ala59=)
c.111G= (p.Ala37=)
n.197G=
c.279G= (p.Ala93=)
n.419G=
19g.41410705G>TCA507555413BCKDHAc.177G>T (p.Ala59=)
c.111G>T (p.Ala37=)
n.197G>T
c.279G>T (p.Ala93=)
n.419G>T
19g.41410706G>ACA406004674BCKDHAc.178G>A (p.Glu60Lys)
c.112G>A (p.Glu38Lys)
n.198G>A
c.280G>A (p.Glu94Lys)
n.420G>A
19g.41410706G>CCA406004675BCKDHAc.178G>C (p.Glu60Gln)
c.112G>C (p.Glu38Gln)
n.198G>C
c.280G>C (p.Glu94Gln)
n.420G>C
19g.41410706G>TCA406004676BCKDHAc.178G>T (p.Glu60Ter)
c.112G>T (p.Glu38Ter)
n.198G>T
c.280G>T (p.Glu94Ter)
n.420G>T
19g.41410707A=CA2336453788BCKDHAc.179A= (p.Glu60=)
c.113A= (p.Glu38=)
n.199A=
c.281A= (p.Glu94=)
n.421A=
19g.41410707A>CCA406004677BCKDHAc.179A>C (p.Glu60Ala)
c.113A>C (p.Glu38Ala)
n.199A>C
c.281A>C (p.Glu94Ala)
n.421A>C
19g.41410707A>GCA9461019BCKDHAc.179A>G (p.Glu60Gly)
c.113A>G (p.Glu38Gly)
n.199A>G
c.281A>G (p.Glu94Gly)
n.421A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410707A>TCA406004678BCKDHAc.179A>T (p.Glu60Val)
c.113A>T (p.Glu38Val)
n.199A>T
c.281A>T (p.Glu94Val)
n.421A>T
19g.41410708G>ACA507555415BCKDHAc.180G>A (p.Glu60=)
c.114G>A (p.Glu38=)
n.200G>A
c.282G>A (p.Glu94=)
n.422G>A
19g.41410708G>CCA406004679BCKDHAc.180G>C (p.Glu60Asp)
c.114G>C (p.Glu38Asp)
n.200G>C
c.282G>C (p.Glu94Asp)
n.422G>C
19g.41410708G>TCA406004680BCKDHAc.180G>T (p.Glu60Asp)
c.114G>T (p.Glu38Asp)
n.200G>T
c.282G>T (p.Glu94Asp)
n.422G>T
19g.41410709T>ACA406004681BCKDHAc.181T>A (p.Phe61Ile)
c.115T>A (p.Phe39Ile)
n.201T>A
c.283T>A (p.Phe95Ile)
n.423T>A
19g.41410709T>CCA406004682BCKDHAc.181T>C (p.Phe61Leu)
c.115T>C (p.Phe39Leu)
n.201T>C
c.283T>C (p.Phe95Leu)
n.423T>C
 COSMIC
19g.41410709T>GCA406004683BCKDHAc.181T>G (p.Phe61Val)
c.115T>G (p.Phe39Val)
n.201T>G
c.283T>G (p.Phe95Val)
n.423T>G
19g.41410710T>ACA406004684BCKDHAc.182T>A (p.Phe61Tyr)
c.116T>A (p.Phe39Tyr)
n.202T>A
c.284T>A (p.Phe95Tyr)
n.424T>A
19g.41410710T>CCA406004685BCKDHAc.182T>C (p.Phe61Ser)
c.116T>C (p.Phe39Ser)
n.202T>C
c.284T>C (p.Phe95Ser)
n.424T>C
19g.41410710T>GCA406004686BCKDHAc.182T>G (p.Phe61Cys)
c.116T>G (p.Phe39Cys)
n.202T>G
c.284T>G (p.Phe95Cys)
n.424T>G
19g.41410711T>ACA406004687BCKDHAc.183T>A (p.Phe61Leu)
c.117T>A (p.Phe39Leu)
n.203T>A
c.285T>A (p.Phe95Leu)
n.425T>A
19g.41410711T>CCA507555418BCKDHAc.183T>C (p.Phe61=)
c.117T>C (p.Phe39=)
n.203T>C
c.285T>C (p.Phe95=)
n.425T>C
 ClinVar
19g.41410711T>GCA406004688BCKDHAc.183T>G (p.Phe61Leu)
c.117T>G (p.Phe39Leu)
n.203T>G
c.285T>G (p.Phe95Leu)
n.425T>G
19g.41410712A=CA2336453789BCKDHAc.184A= (p.Ile62=)
c.118A= (p.Ile40=)
n.204A=
c.286A= (p.Ile96=)
n.426A=
19g.41410712A>CCA406004689BCKDHAc.184A>C (p.Ile62Leu)
c.118A>C (p.Ile40Leu)
n.204A>C
c.286A>C (p.Ile96Leu)
n.426A>C
19g.41410712A>GCA406004690BCKDHAc.184A>G (p.Ile62Val)
c.118A>G (p.Ile40Val)
n.204A>G
c.286A>G (p.Ile96Val)
n.426A>G
 dbSNP
19g.41410712A>TCA406004691BCKDHAc.184A>T (p.Ile62Leu)
c.118A>T (p.Ile40Leu)
n.204A>T
c.286A>T (p.Ile96Leu)
n.426A>T
19g.41410713T>ACA406004693BCKDHAc.185T>A (p.Ile62Lys)
c.119T>A (p.Ile40Lys)
n.205T>A
c.287T>A (p.Ile96Lys)
n.427T>A
19g.41410713T>CCA9461020BCKDHAc.185T>C (p.Ile62Thr)
c.119T>C (p.Ile40Thr)
n.205T>C
c.287T>C (p.Ile96Thr)
n.427T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410713T>GCA406004692BCKDHAc.185T>G (p.Ile62Arg)
c.119T>G (p.Ile40Arg)
n.205T>G
c.287T>G (p.Ile96Arg)
n.427T>G
19g.41410713T=CA2336453790BCKDHAc.185T= (p.Ile62=)
c.119T= (p.Ile40=)
n.205T=
c.287T= (p.Ile96=)
n.427T=
19g.41410714A=CA2336453791BCKDHAc.186A= (p.Ile62=)
c.120A= (p.Ile40=)
n.206A=
c.288A= (p.Ile96=)
n.428A=
19g.41410714A>CCA507555419BCKDHAc.186A>C (p.Ile62=)
c.120A>C (p.Ile40=)
n.206A>C
c.288A>C (p.Ile96=)
n.428A>C
19g.41410714A>GCA9461021BCKDHAc.186A>G (p.Ile62Met)
c.120A>G (p.Ile40Met)
n.206A>G
c.288A>G (p.Ile96Met)
n.428A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410714A>TCA308515276BCKDHAc.186A>T (p.Ile62=)
c.120A>T (p.Ile40=)
n.206A>T
c.288A>T (p.Ile96=)
n.428A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410715delCA2585306802BCKDHAc.187del (p.Asp63IlefsTer?)
c.121del (p.Asp41IlefsTer?)
n.207del
c.289del (p.Asp97IlefsTer?)
n.429del
 gnomAD v4
19g.41410715G>ACA406004694BCKDHAc.187G>A (p.Asp63Asn)
c.121G>A (p.Asp41Asn)
n.207G>A
c.289G>A (p.Asp97Asn)
n.429G>A
19g.41410715G>CCA406004695BCKDHAc.187G>C (p.Asp63His)
c.121G>C (p.Asp41His)
n.207G>C
c.289G>C (p.Asp97His)
n.429G>C
19g.41410715G>TCA406004696BCKDHAc.187G>T (p.Asp63Tyr)
c.121G>T (p.Asp41Tyr)
n.207G>T
c.289G>T (p.Asp97Tyr)
n.429G>T
19g.41410716A>CCA406004697BCKDHAc.188A>C (p.Asp63Ala)
c.122A>C (p.Asp41Ala)
n.208A>C
c.290A>C (p.Asp97Ala)
n.430A>C
19g.41410716A>GCA406004698BCKDHAc.188A>G (p.Asp63Gly)
c.122A>G (p.Asp41Gly)
n.208A>G
c.290A>G (p.Asp97Gly)
n.430A>G
 gnomAD v4
19g.41410716A>TCA406004699BCKDHAc.188A>T (p.Asp63Val)
c.122A>T (p.Asp41Val)
n.208A>T
c.290A>T (p.Asp97Val)
n.430A>T
 gnomAD v4
19g.41410717T>ACA406004700BCKDHAc.189T>A (p.Asp63Glu)
c.123T>A (p.Asp41Glu)
n.209T>A
c.291T>A (p.Asp97Glu)
n.431T>A
19g.41410717T>CCA507555420BCKDHAc.189T>C (p.Asp63=)
c.123T>C (p.Asp41=)
n.209T>C
c.291T>C (p.Asp97=)
n.431T>C
19g.41410717T>GCA406004701BCKDHAc.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
19g.41410717T=CA2336453792BCKDHAc.189T= (p.Asp63=)
c.123T= (p.Asp41=)
n.209T=
c.291T= (p.Asp97=)
n.431T=
19g.41410718A>CCA406004702BCKDHAc.190A>C (p.Lys64Gln)
c.124A>C (p.Lys42Gln)
n.210A>C
c.292A>C (p.Lys98Gln)
n.432A>C
19g.41410718A>GCA406004703BCKDHAc.190A>G (p.Lys64Glu)
c.124A>G (p.Lys42Glu)
n.210A>G
c.292A>G (p.Lys98Glu)
n.432A>G
19g.41410718A>TCA406004704BCKDHAc.190A>T (p.Lys64Ter)
c.124A>T (p.Lys42Ter)
n.210A>T
c.292A>T (p.Lys98Ter)
n.432A>T
19g.41410719A=CA2336453793BCKDHAc.191A= (p.Lys64=)
c.125A= (p.Lys42=)
n.211A=
c.293A= (p.Lys98=)
n.433A=
19g.41410719A>CCA406004706BCKDHAc.191A>C (p.Lys64Thr)
c.125A>C (p.Lys42Thr)
n.211A>C
c.293A>C (p.Lys98Thr)
n.433A>C
 dbSNP
19g.41410719A>GCA406004707BCKDHAc.191A>G (p.Lys64Arg)
c.125A>G (p.Lys42Arg)
n.211A>G
c.293A>G (p.Lys98Arg)
n.433A>G
19g.41410719A>TCA406004705BCKDHAc.191A>T (p.Lys64Met)
c.125A>T (p.Lys42Met)
n.211A>T
c.293A>T (p.Lys98Met)
n.433A>T
19g.41410720G>ACA9461022BCKDHAc.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
19g.41410720G>CCA406004708BCKDHAc.192G>C (p.Lys64Asn)
c.126G>C (p.Lys42Asn)
n.212G>C
c.294G>C (p.Lys98Asn)
n.434G>C
19g.41410720G=CA2336453794BCKDHAc.192G= (p.Lys64=)
c.126G= (p.Lys42=)
n.212G=
c.294G= (p.Lys98=)
n.434G=
19g.41410720G>TCA406004709BCKDHAc.192G>T (p.Lys64Asn)
c.126G>T (p.Lys42Asn)
n.212G>T
c.294G>T (p.Lys98Asn)
n.434G>T
19g.41410721T>ACA406004710BCKDHAc.193T>A (p.Leu65Met)
c.127T>A (p.Leu43Met)
n.213T>A
c.295T>A (p.Leu99Met)
n.435T>A
19g.41410721T>CCA507555422BCKDHAc.193T>C (p.Leu65=)
c.127T>C (p.Leu43=)
n.213T>C
c.295T>C (p.Leu99=)
n.435T>C
19g.41410721T>GCA406004711BCKDHAc.193T>G (p.Leu65Val)
c.127T>G (p.Leu43Val)
n.213T>G
c.295T>G (p.Leu99Val)
n.435T>G
19g.41410722T>ACA406004714BCKDHAc.194T>A (p.Leu65Ter)
c.128T>A (p.Leu43Ter)
n.214T>A
c.296T>A (p.Leu99Ter)
c.1T>A
n.436T>A
19g.41410722T>CCA406004712BCKDHAc.194T>C (p.Leu65Ser)
c.128T>C (p.Leu43Ser)
n.214T>C
c.296T>C (p.Leu99Ser)
c.1T>C
n.436T>C
19g.41410722T>GCA406004713BCKDHAc.194T>G (p.Leu65Trp)
c.128T>G (p.Leu43Trp)
n.214T>G
c.296T>G (p.Leu99Trp)
c.1T>G
n.436T>G
19g.41410723G>ACA507555426BCKDHAc.195G>A (p.Leu65=)
c.129G>A (p.Leu43=)
n.215G>A
c.297G>A (p.Leu99=)
c.2G>A
n.437G>A
19g.41410723G>CCA406004715BCKDHAc.195G>C (p.Leu65Phe)
c.129G>C (p.Leu43Phe)
n.215G>C
c.297G>C (p.Leu99Phe)
c.2G>C
n.437G>C
19g.41410723G>TCA406004716BCKDHAc.195G>T (p.Leu65Phe)
c.129G>T (p.Leu43Phe)
n.215G>T
c.297G>T (p.Leu99Phe)
c.2G>T
n.437G>T
19g.41410724G>ACA406004717BCKDHAc.196G>A (p.Glu66Lys)
c.130G>A (p.Glu44Lys)
n.216G>A
c.298G>A (p.Glu100Lys)
c.3G>A
n.438G>A
19g.41410724G>CCA406004718BCKDHAc.196G>C (p.Glu66Gln)
c.130G>C (p.Glu44Gln)
n.216G>C
c.298G>C (p.Glu100Gln)
c.3G>C
n.438G>C
19g.41410724G=CA2336453795BCKDHAc.196G= (p.Glu66=)
c.130G= (p.Glu44=)
n.216G=
c.298G= (p.Glu100=)
c.3G=
n.438G=
19g.41410724G>TCA406004719BCKDHAc.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
19g.41410725A>CCA406004722BCKDHAc.197A>C (p.Glu66Ala)
c.131A>C (p.Glu44Ala)
n.217A>C
c.299A>C (p.Glu100Ala)
c.4A>C
n.439A>C
19g.41410725A>GCA406004721BCKDHAc.197A>G (p.Glu66Gly)
c.131A>G (p.Glu44Gly)
n.217A>G
c.299A>G (p.Glu100Gly)
c.4A>G
n.439A>G
19g.41410725A>TCA406004720BCKDHAc.197A>T (p.Glu66Val)
c.131A>T (p.Glu44Val)
n.217A>T
c.299A>T (p.Glu100Val)
c.4A>T
n.439A>T
19g.41410726A=CA2336453796BCKDHAc.198A= (p.Glu66=)
c.132A= (p.Glu44=)
n.218A=
c.300A= (p.Glu100=)
c.5A=
n.440A=
19g.41410726A>CCA406004723BCKDHAc.198A>C (p.Glu66Asp)
c.132A>C (p.Glu44Asp)
n.218A>C
c.300A>C (p.Glu100Asp)
c.5A>C
n.440A>C
19g.41410726A>GCA507555427BCKDHAc.198A>G (p.Glu66=)
c.132A>G (p.Glu44=)
n.218A>G
c.300A>G (p.Glu100=)
c.5A>G
n.440A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410726A>TCA406004724BCKDHAc.198A>T (p.Glu66Asp)
c.132A>T (p.Glu44Asp)
n.218A>T
c.300A>T (p.Glu100Asp)
c.5A>T
n.440A>T
19g.41410727T>ACA406004725BCKDHAc.199T>A (p.Phe67Ile)
c.133T>A (p.Phe45Ile)
n.219T>A
c.301T>A (p.Phe101Ile)
c.6T>A
n.441T>A
19g.41410727T>CCA406004727BCKDHAc.199T>C (p.Phe67Leu)
c.133T>C (p.Phe45Leu)
n.219T>C
c.301T>C (p.Phe101Leu)
c.6T>C
n.441T>C
19g.41410727T>GCA406004726BCKDHAc.199T>G (p.Phe67Val)
c.133T>G (p.Phe45Val)
n.219T>G
c.301T>G (p.Phe101Val)
c.6T>G
n.441T>G
19g.41410728T>ACA406004728BCKDHAc.200T>A (p.Phe67Tyr)
c.134T>A (p.Phe45Tyr)
n.220T>A
c.302T>A (p.Phe101Tyr)
c.7T>A
n.442T>A
19g.41410728T>CCA406004730BCKDHAc.200T>C (p.Phe67Ser)
c.134T>C (p.Phe45Ser)
n.220T>C
c.302T>C (p.Phe101Ser)
c.7T>C
n.442T>C
19g.41410728T>GCA406004729BCKDHAc.200T>G (p.Phe67Cys)
c.134T>G (p.Phe45Cys)
n.220T>G
c.302T>G (p.Phe101Cys)
c.7T>G
n.442T>G
19g.41410729C>ACA406004731BCKDHAc.201C>A (p.Phe67Leu)
c.135C>A (p.Phe45Leu)
n.221C>A
c.303C>A (p.Phe101Leu)
c.8C>A
n.443C>A
19g.41410729C>GCA406004732BCKDHAc.201C>G (p.Phe67Leu)
c.135C>G (p.Phe45Leu)
n.221C>G
c.303C>G (p.Phe101Leu)
c.8C>G
n.443C>G
19g.41410729C>TCA507555430BCKDHAc.201C>T (p.Phe67=)
c.135C>T (p.Phe45=)
n.221C>T
c.303C>T (p.Phe101=)
c.8C>T
n.443C>T
19g.41410730A=CA2336453797BCKDHAc.202A= (p.Ile68=)
c.136A= (p.Ile46=)
n.222A=
c.304A= (p.Ile102=)
c.9A=
n.444A=
19g.41410730A>CCA406004733BCKDHAc.202A>C (p.Ile68Leu)
c.136A>C (p.Ile46Leu)
n.222A>C
c.304A>C (p.Ile102Leu)
c.9A>C
n.444A>C
19g.41410730A>GCA9461023BCKDHAc.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
19g.41410730A>TCA406004734BCKDHAc.202A>T (p.Ile68Phe)
c.136A>T (p.Ile46Phe)
n.222A>T
c.304A>T (p.Ile102Phe)
c.9A>T
n.444A>T
19g.41410731T>ACA9461024BCKDHAc.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
19g.41410731T>CCA406004735BCKDHAc.203T>C (p.Ile68Thr)
c.137T>C (p.Ile46Thr)
n.223T>C
c.305T>C (p.Ile102Thr)
c.10T>C
n.445T>C
19g.41410731T>GCA406004736BCKDHAc.203T>G (p.Ile68Ser)
c.137T>G (p.Ile46Ser)
n.223T>G
c.305T>G (p.Ile102Ser)
c.10T>G
n.445T>G
19g.41410731T=CA2336453798BCKDHAc.203T= (p.Ile68=)
c.137T= (p.Ile46=)
n.223T=
c.305T= (p.Ile102=)
c.10T=
n.445T=
19g.41410732C>ACA507555433BCKDHAc.204C>A (p.Ile68=)
c.138C>A (p.Ile46=)
n.224C>A
c.306C>A (p.Ile102=)
c.11C>A
n.446C>A
 ClinVar dbSNP
19g.41410732C>GCA406004737BCKDHAc.204C>G (p.Ile68Met)
c.138C>G (p.Ile46Met)
n.224C>G
c.306C>G (p.Ile102Met)
c.11C>G
n.446C>G
19g.41410732C>TCA507555435BCKDHAc.204C>T (p.Ile68=)
c.138C>T (p.Ile46=)
n.224C>T
c.306C>T (p.Ile102=)
c.11C>T
n.446C>T
19g.41410733C>ACA406004738BCKDHAc.205C>A (p.Gln69Lys)
c.139C>A (p.Gln47Lys)
n.225C>A
c.307C>A (p.Gln103Lys)
c.12C>A
n.447C>A
19g.41410733C>GCA406004739BCKDHAc.205C>G (p.Gln69Glu)
c.139C>G (p.Gln47Glu)
n.225C>G
c.307C>G (p.Gln103Glu)
c.12C>G
n.447C>G
19g.41410733C>TCA406004740BCKDHAc.205C>T (p.Gln69Ter)
c.139C>T (p.Gln47Ter)
n.225C>T
c.307C>T (p.Gln103Ter)
c.12C>T
n.447C>T
19g.41410734A>CCA406004741BCKDHAc.206A>C (p.Gln69Pro)
c.140A>C (p.Gln47Pro)
n.226A>C
c.308A>C (p.Gln103Pro)
c.13A>C
n.448A>C
19g.41410734A>GCA406004742BCKDHAc.206A>G (p.Gln69Arg)
c.140A>G (p.Gln47Arg)
n.226A>G
c.308A>G (p.Gln103Arg)
c.13A>G
n.448A>G
19g.41410734A>TCA406004743BCKDHAc.206A>T (p.Gln69Leu)
c.140A>T (p.Gln47Leu)
n.226A>T
c.308A>T (p.Gln103Leu)
c.13A>T
n.448A>T
19g.41410735G>ACA507555440BCKDHAc.207G>A (p.Gln69=)
c.141G>A (p.Gln47=)
n.227G>A
c.309G>A (p.Gln103=)
c.14G>A
n.449G>A
19g.41410735G>CCA406004744BCKDHAc.207G>C (p.Gln69His)
c.141G>C (p.Gln47His)
n.227G>C
c.309G>C (p.Gln103His)
c.14G>C
n.449G>C
19g.41410735G>TCA406004745BCKDHAc.207G>T (p.Gln69His)
c.141G>T (p.Gln47His)
n.227G>T
c.309G>T (p.Gln103His)
c.14G>T
n.449G>T
19g.41410735_41410736delinsGCCA2336453799BCKDHAc.207_208delinsGC (p.Gln69=)
c.141_142delinsGC (p.Gln47=)
n.227_228delinsGC
c.309_310delinsGC (p.Gln103=)
c.14_15delinsGC
n.449_450delinsGC
19g.41410736C>ACA406004746BCKDHAc.208C>A (p.Pro70Thr)
c.142C>A (p.Pro48Thr)
n.228C>A
c.310C>A (p.Pro104Thr)
c.15C>A
n.450C>A
19g.41410736C=CA2336453800BCKDHAc.208C= (p.Pro70=)
c.142C= (p.Pro48=)
n.228C=
c.310C= (p.Pro104=)
c.15C=
n.450C=
19g.41410736C>GCA406004747BCKDHAc.208C>G (p.Pro70Ala)
c.142C>G (p.Pro48Ala)
n.228C>G
c.310C>G (p.Pro104Ala)
c.15C>G
n.450C>G
19g.41410736C>TCA9461025BCKDHAc.208C>T (p.Pro70Ser)
c.142C>T (p.Pro48Ser)
n.228C>T
c.310C>T (p.Pro104Ser)
c.15C>T
n.450C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410738delCA633470450BCKDHAc.210del (p.Asn71ThrfsTer?)
c.144del (p.Asn49ThrfsTer?)
n.230del
c.312del (p.Asn105ThrfsTer?)
c.17del
n.452del
 dbSNP gnomAD v2 gnomAD v4
19g.41410737C>ACA406004748BCKDHAc.209C>A (p.Pro70His)
c.143C>A (p.Pro48His)
n.229C>A
c.311C>A (p.Pro104His)
c.16C>A
n.451C>A
19g.41410737C>GCA406004749BCKDHAc.209C>G (p.Pro70Arg)
c.143C>G (p.Pro48Arg)
n.229C>G
c.311C>G (p.Pro104Arg)
c.16C>G
n.451C>G
19g.41410737C>TCA406004750BCKDHAc.209C>T (p.Pro70Leu)
c.143C>T (p.Pro48Leu)
n.229C>T
c.311C>T (p.Pro104Leu)
c.16C>T
n.451C>T
19g.41410738C>ACA507555442BCKDHAc.210C>A (p.Pro70=)
c.144C>A (p.Pro48=)
n.230C>A
c.312C>A (p.Pro104=)
c.17C>A
n.452C>A
 gnomAD v4
19g.41410738C>GCA507555444BCKDHAc.210C>G (p.Pro70=)
c.144C>G (p.Pro48=)
n.230C>G
c.312C>G (p.Pro104=)
c.17C>G
n.452C>G
19g.41410738C>TCA507555445BCKDHAc.210C>T (p.Pro70=)
c.144C>T (p.Pro48=)
n.230C>T
c.312C>T (p.Pro104=)
c.17C>T
n.452C>T
 ClinVar
19g.41410739A>CCA406004751BCKDHAc.211A>C (p.Asn71His)
c.145A>C (p.Asn49His)
n.231A>C
c.313A>C (p.Asn105His)
c.18A>C
n.453A>C
19g.41410739A>GCA406004752BCKDHAc.211A>G (p.Asn71Asp)
c.145A>G (p.Asn49Asp)
n.231A>G
c.313A>G (p.Asn105Asp)
c.18A>G
n.453A>G
19g.41410739A>TCA406004753BCKDHAc.211A>T (p.Asn71Tyr)
c.145A>T (p.Asn49Tyr)
n.231A>T
c.313A>T (p.Asn105Tyr)
c.18A>T
n.453A>T
19g.41410740A=CA2336453801BCKDHAc.212A= (p.Asn71=)
c.146A= (p.Asn49=)
n.232A=
c.314A= (p.Asn105=)
c.19A=
n.454A=
19g.41410740A>CCA406004754BCKDHAc.212A>C (p.Asn71Thr)
c.146A>C (p.Asn49Thr)
n.232A>C
c.314A>C (p.Asn105Thr)
c.19A>C
n.454A>C
19g.41410740A>GCA9461026BCKDHAc.212A>G (p.Asn71Ser)
c.146A>G (p.Asn49Ser)
n.232A>G
c.314A>G (p.Asn105Ser)
c.19A>G
n.454A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410740A>TCA406004755BCKDHAc.212A>T (p.Asn71Ile)
c.146A>T (p.Asn49Ile)
n.232A>T
c.314A>T (p.Asn105Ile)
c.19A>T
n.454A>T
19g.41410741C>ACA406004756BCKDHAc.213C>A (p.Asn71Lys)
c.147C>A (p.Asn49Lys)
n.233C>A
c.315C>A (p.Asn105Lys)
c.20C>A
n.455C>A
19g.41410741C=CA2336453802BCKDHAc.213C= (p.Asn71=)
c.147C= (p.Asn49=)
n.233C=
c.315C= (p.Asn105=)
c.20C=
n.455C=
19g.41410741C>GCA406004757BCKDHAc.213C>G (p.Asn71Lys)
c.147C>G (p.Asn49Lys)
n.233C>G
c.315C>G (p.Asn105Lys)
c.20C>G
n.455C>G
19g.41410741C>TCA9461027BCKDHAc.213C>T (p.Asn71=)
c.147C>T (p.Asn49=)
n.233C>T
c.315C>T (p.Asn105=)
c.20C>T
n.455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410742G>ACA9461028BCKDHAc.214G>A (p.Val72Ile)
c.148G>A (p.Val50Ile)
n.234G>A
c.316G>A (p.Val106Ile)
c.21G>A
n.456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410742G>CCA406004758BCKDHAc.214G>C (p.Val72Leu)
c.148G>C (p.Val50Leu)
n.234G>C
c.316G>C (p.Val106Leu)
c.21G>C
n.456G>C
19g.41410742G=CA2336453803BCKDHAc.214G= (p.Val72=)
c.148G= (p.Val50=)
n.234G=
c.316G= (p.Val106=)
c.21G=
n.456G=
19g.41410742G>TCA406004759BCKDHAc.214G>T (p.Val72Phe)
c.148G>T (p.Val50Phe)
n.234G>T
c.316G>T (p.Val106Phe)
c.21G>T
n.456G>T
19g.41410743T>ACA406004760BCKDHAc.215T>A (p.Val72Asp)
c.149T>A (p.Val50Asp)
n.235T>A
c.317T>A (p.Val106Asp)
c.22T>A
n.457T>A
19g.41410743T>CCA406004761BCKDHAc.215T>C (p.Val72Ala)
c.149T>C (p.Val50Ala)
n.235T>C
c.317T>C (p.Val106Ala)
c.22T>C
n.457T>C
19g.41410743T>GCA406004762BCKDHAc.215T>G (p.Val72Gly)
c.149T>G (p.Val50Gly)
n.235T>G
c.317T>G (p.Val106Gly)
c.22T>G
n.457T>G
19g.41410744C>ACA507555454BCKDHAc.216C>A (p.Val72=)
c.150C>A (p.Val50=)
n.236C>A
c.318C>A (p.Val106=)
c.23C>A
n.458C>A
19g.41410744C>GCA507555453BCKDHAc.216C>G (p.Val72=)
c.150C>G (p.Val50=)
n.236C>G
c.318C>G (p.Val106=)
c.23C>G
n.458C>G
 ClinVar
19g.41410744C>TCA507555452BCKDHAc.216C>T (p.Val72=)
c.150C>T (p.Val50=)
n.236C>T
c.318C>T (p.Val106=)
c.23C>T
n.458C>T
19g.41410745A=CA2336453804BCKDHAc.217A= (p.Ile73=)
c.151A= (p.Ile51=)
n.237A=
c.319A= (p.Ile107=)
c.24A=
n.459A=
19g.41410745A>CCA406004763BCKDHAc.217A>C (p.Ile73Leu)
c.151A>C (p.Ile51Leu)
n.237A>C
c.319A>C (p.Ile107Leu)
c.24A>C
n.459A>C
19g.41410745A>GCA9461029BCKDHAc.217A>G (p.Ile73Val)
c.151A>G (p.Ile51Val)
n.237A>G
c.319A>G (p.Ile107Val)
c.24A>G
n.459A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410745A>TCA406004764BCKDHAc.217A>T (p.Ile73Phe)
c.151A>T (p.Ile51Phe)
n.237A>T
c.319A>T (p.Ile107Phe)
c.24A>T
n.459A>T
 dbSNP gnomAD v3 gnomAD v4
19g.41410746T>ACA406004765BCKDHAc.218T>A (p.Ile73Asn)
c.152T>A (p.Ile51Asn)
n.238T>A
c.320T>A (p.Ile107Asn)
c.25T>A
n.460T>A
19g.41410746T>CCA406004766BCKDHAc.218T>C (p.Ile73Thr)
c.152T>C (p.Ile51Thr)
n.238T>C
c.320T>C (p.Ile107Thr)
c.25T>C
n.460T>C
19g.41410746T>GCA406004767BCKDHAc.218T>G (p.Ile73Ser)
c.152T>G (p.Ile51Ser)
n.238T>G
c.320T>G (p.Ile107Ser)
c.25T>G
n.460T>G
19g.41410747C>ACA507555459BCKDHAc.219C>A (p.Ile73=)
c.153C>A (p.Ile51=)
n.239C>A
c.321C>A (p.Ile107=)
c.26C>A
n.461C>A
19g.41410747C>GCA406004768BCKDHAc.219C>G (p.Ile73Met)
c.153C>G (p.Ile51Met)
n.239C>G
c.321C>G (p.Ile107Met)
c.26C>G
n.461C>G
 gnomAD v4
19g.41410747C>TCA507555461BCKDHAc.219C>T (p.Ile73=)
c.153C>T (p.Ile51=)
n.239C>T
c.321C>T (p.Ile107=)
c.26C>T
n.461C>T
 gnomAD v4
19g.41410748T>ACA406004771BCKDHAc.220T>A (p.Ser74Thr)
c.154T>A (p.Ser52Thr)
n.240T>A
c.322T>A (p.Ser108Thr)
c.27T>A
n.462T>A
19g.41410748T>CCA406004770BCKDHAc.220T>C (p.Ser74Pro)
c.154T>C (p.Ser52Pro)
n.240T>C
c.322T>C (p.Ser108Pro)
c.27T>C
n.462T>C
19g.41410748T>GCA406004769BCKDHAc.220T>G (p.Ser74Ala)
c.154T>G (p.Ser52Ala)
n.240T>G
c.322T>G (p.Ser108Ala)
c.27T>G
n.462T>G
19g.41410749C>ACA406004772BCKDHAc.221C>A (p.Ser74Tyr)
c.155C>A (p.Ser52Tyr)
n.241C>A
c.323C>A (p.Ser108Tyr)
c.28C>A
n.463C>A
19g.41410749C>GCA406004773BCKDHAc.221C>G (p.Ser74Cys)
c.155C>G (p.Ser52Cys)
n.241C>G
c.323C>G (p.Ser108Cys)
c.28C>G
n.463C>G
19g.41410749C>TCA406004774BCKDHAc.221C>T (p.Ser74Phe)
c.155C>T (p.Ser52Phe)
n.241C>T
c.323C>T (p.Ser108Phe)
c.28C>T
n.463C>T
 COSMIC
19g.41410750T>ACA507555463BCKDHAc.222T>A (p.Ser74=)
c.156T>A (p.Ser52=)
n.242T>A
c.324T>A (p.Ser108=)
c.29T>A
n.464T>A
19g.41410750T>CCA507555464BCKDHAc.222T>C (p.Ser74=)
c.156T>C (p.Ser52=)
n.242T>C
c.324T>C (p.Ser108=)
c.29T>C
n.464T>C
 dbSNP gnomAD v4
19g.41410750T>GCA507555465BCKDHAc.222T>G (p.Ser74=)
c.156T>G (p.Ser52=)
n.242T>G
c.324T>G (p.Ser108=)
c.29T>G
n.464T>G
 ClinVar
19g.41410750T=CA2336453805BCKDHAc.222T= (p.Ser74=)
c.156T= (p.Ser52=)
n.242T=
c.324T= (p.Ser108=)
c.29T=
n.464T=
19g.41410751G>ACA308515340BCKDHAc.223G>A (p.Gly75Arg)
c.157G>A (p.Gly53Arg)
n.243G>A
c.325G>A (p.Gly109Arg)
c.30G>A
n.465G>A
 dbSNP gnomAD v4
19g.41410751G>CCA406004775BCKDHAc.223G>C (p.Gly75Arg)
c.157G>C (p.Gly53Arg)
n.243G>C
c.325G>C (p.Gly109Arg)
c.30G>C
n.465G>C
19g.41410751G=CA2336453806BCKDHAc.223G= (p.Gly75=)
c.157G= (p.Gly53=)
n.243G=
c.325G= (p.Gly109=)
c.30G=
n.465G=
19g.41410751G>TCA406004776BCKDHAc.223G>T (p.Gly75Ter)
c.157G>T (p.Gly53Ter)
n.243G>T
c.325G>T (p.Gly109Ter)
c.30G>T
n.465G>T
19g.41410752G>ACA406004777BCKDHAc.224G>A (p.Gly75Glu)
c.158G>A (p.Gly53Glu)
n.244G>A
c.326G>A (p.Gly109Glu)
c.31G>A
n.466G>A
19g.41410752G>CCA406004778BCKDHAc.224G>C (p.Gly75Ala)
c.158G>C (p.Gly53Ala)
n.244G>C
c.326G>C (p.Gly109Ala)
c.31G>C
n.466G>C
19g.41410752G>TCA406004779BCKDHAc.224G>T (p.Gly75Val)
c.158G>T (p.Gly53Val)
n.244G>T
c.326G>T (p.Gly109Val)
c.31G>T
n.466G>T
19g.41410753A=CA2336453807BCKDHAc.225A= (p.Gly75=)
c.159A= (p.Gly53=)
n.245A=
c.327A= (p.Gly109=)
c.32A=
n.467A=
19g.41410753A>CCA507555468BCKDHAc.225A>C (p.Gly75=)
c.159A>C (p.Gly53=)
n.245A>C
c.327A>C (p.Gly109=)
c.32A>C
n.467A>C
 dbSNP
19g.41410753A>GCA507555469BCKDHAc.225A>G (p.Gly75=)
c.159A>G (p.Gly53=)
n.245A>G
c.327A>G (p.Gly109=)
c.32A>G
n.467A>G
19g.41410753A>TCA507555472BCKDHAc.225A>T (p.Gly75=)
c.159A>T (p.Gly53=)
n.245A>T
c.327A>T (p.Gly109=)
c.32A>T
n.467A>T
19g.41410754A=CA2336453808BCKDHAc.226A= (p.Ile76=)
c.160A= (p.Ile54=)
n.246A=
c.328A= (p.Ile110=)
c.33A=
n.468A=
19g.41410754A>CCA406004780BCKDHAc.226A>C (p.Ile76Leu)
c.160A>C (p.Ile54Leu)
n.246A>C
c.328A>C (p.Ile110Leu)
c.33A>C
n.468A>C
19g.41410754A>GCA406004781BCKDHAc.226A>G (p.Ile76Val)
c.160A>G (p.Ile54Val)
n.246A>G
c.328A>G (p.Ile110Val)
c.33A>G
n.468A>G
 dbSNP gnomAD v3 gnomAD v4
19g.41410754A>TCA406004782BCKDHAc.226A>T (p.Ile76Phe)
c.160A>T (p.Ile54Phe)
n.246A>T
c.328A>T (p.Ile110Phe)
c.33A>T
n.468A>T
19g.41410755T>ACA406004785BCKDHAc.227T>A (p.Ile76Asn)
c.161T>A (p.Ile54Asn)
n.247T>A
c.329T>A (p.Ile110Asn)
c.34T>A
n.469T>A
19g.41410755T>CCA406004784BCKDHAc.227T>C (p.Ile76Thr)
c.161T>C (p.Ile54Thr)
n.247T>C
c.329T>C (p.Ile110Thr)
c.34T>C
n.469T>C
19g.41410755T>GCA406004783BCKDHAc.227T>G (p.Ile76Ser)
c.161T>G (p.Ile54Ser)
n.247T>G
c.329T>G (p.Ile110Ser)
c.34T>G
n.469T>G
19g.41410756C>ACA507555475BCKDHAc.228C>A (p.Ile76=)
c.162C>A (p.Ile54=)
n.248C>A
c.330C>A (p.Ile110=)
c.35C>A
n.470C>A
19g.41410756C>GCA406004786BCKDHAc.228C>G (p.Ile76Met)
c.162C>G (p.Ile54Met)
n.248C>G
c.330C>G (p.Ile110Met)
c.35C>G
n.470C>G
19g.41410756C>TCA507555477BCKDHAc.228C>T (p.Ile76=)
c.162C>T (p.Ile54=)
n.248C>T
c.330C>T (p.Ile110=)
c.35C>T
n.470C>T
 ClinVar
19g.41410757C>ACA406004787BCKDHAc.229C>A (p.Pro77Thr)
c.163C>A (p.Pro55Thr)
n.249C>A
c.331C>A (p.Pro111Thr)
c.36C>A
n.471C>A
19g.41410757C>GCA406004789BCKDHAc.229C>G (p.Pro77Ala)
c.163C>G (p.Pro55Ala)
n.249C>G
c.331C>G (p.Pro111Ala)
c.36C>G
n.471C>G
19g.41410757C>TCA406004791BCKDHAc.229C>T (p.Pro77Ser)
c.163C>T (p.Pro55Ser)
n.249C>T
c.331C>T (p.Pro111Ser)
c.36C>T
n.471C>T
19g.41410758C>ACA406004792BCKDHAc.230C>A (p.Pro77His)
c.164C>A (p.Pro55His)
n.250C>A
c.332C>A (p.Pro111His)
c.37C>A
n.472C>A
19g.41410758C>GCA406004795BCKDHAc.230C>G (p.Pro77Arg)
c.164C>G (p.Pro55Arg)
n.250C>G
c.332C>G (p.Pro111Arg)
c.37C>G
n.472C>G
19g.41410758C>TCA406004797BCKDHAc.230C>T (p.Pro77Leu)
c.164C>T (p.Pro55Leu)
n.250C>T
c.332C>T (p.Pro111Leu)
c.37C>T
n.472C>T
 gnomAD v4
19g.41410759C>ACA507555480BCKDHAc.231C>A (p.Pro77=)
c.165C>A (p.Pro55=)
n.251C>A
c.333C>A (p.Pro111=)
c.38C>A
n.473C>A
 ClinVar
19g.41410759C>GCA507555481BCKDHAc.231C>G (p.Pro77=)
c.165C>G (p.Pro55=)
n.251C>G
c.333C>G (p.Pro111=)
c.38C>G
n.473C>G
 ClinVar dbSNP
19g.41410759C>TCA507555482BCKDHAc.231C>T (p.Pro77=)
c.165C>T (p.Pro55=)
n.251C>T
c.333C>T (p.Pro111=)
c.38C>T
n.473C>T
19g.41410760A=CA2336453809BCKDHAc.232A= (p.Ile78=)
c.166A= (p.Ile56=)
n.252A=
c.334A= (p.Ile112=)
c.39A=
n.474A=
19g.41410760A>CCA406004800BCKDHAc.232A>C (p.Ile78Leu)
c.166A>C (p.Ile56Leu)
n.252A>C
c.334A>C (p.Ile112Leu)
c.39A>C
n.474A>C
19g.41410760A>GCA406004804BCKDHAc.232A>G (p.Ile78Val)
c.166A>G (p.Ile56Val)
n.252A>G
c.334A>G (p.Ile112Val)
c.39A>G
n.474A>G
 dbSNP gnomAD v4
19g.41410760A>TCA406004802BCKDHAc.232A>T (p.Ile78Phe)
c.166A>T (p.Ile56Phe)
n.252A>T
c.334A>T (p.Ile112Phe)
c.39A>T
n.474A>T
19g.41410761T>ACA406004807BCKDHAc.233T>A (p.Ile78Asn)
c.167T>A (p.Ile56Asn)
n.253T>A
c.335T>A (p.Ile112Asn)
c.40T>A
n.475T>A
19g.41410761T>CCA406004809BCKDHAc.233T>C (p.Ile78Thr)
c.167T>C (p.Ile56Thr)
n.253T>C
c.335T>C (p.Ile112Thr)
c.40T>C
n.475T>C
19g.41410761T>GCA406004811BCKDHAc.233T>G (p.Ile78Ser)
c.167T>G (p.Ile56Ser)
n.253T>G
c.335T>G (p.Ile112Ser)
c.40T>G
n.475T>G
19g.41410762C>ACA507555486BCKDHAc.234C>A (p.Ile78=)
c.168C>A (p.Ile56=)
n.254C>A
c.336C>A (p.Ile112=)
c.41C>A
n.476C>A
19g.41410762C>GCA406004813BCKDHAc.234C>G (p.Ile78Met)
c.168C>G (p.Ile56Met)
n.254C>G
c.336C>G (p.Ile112Met)
c.41C>G
n.476C>G
19g.41410762C>TCA507555487BCKDHAc.234C>T (p.Ile78=)
c.168C>T (p.Ile56=)
n.254C>T
c.336C>T (p.Ile112=)
c.41C>T
n.476C>T
19g.41410763T>ACA406004821BCKDHAc.235T>A (p.Tyr79Asn)
c.169T>A (p.Tyr57Asn)
n.255T>A
c.337T>A (p.Tyr113Asn)
c.42T>A
n.477T>A
19g.41410763T>CCA406004816BCKDHAc.235T>C (p.Tyr79His)
c.169T>C (p.Tyr57His)
n.255T>C
c.337T>C (p.Tyr113His)
c.42T>C
n.477T>C
19g.41410763T>GCA406004819BCKDHAc.235T>G (p.Tyr79Asp)
c.169T>G (p.Tyr57Asp)
n.255T>G
c.337T>G (p.Tyr113Asp)
c.42T>G
n.477T>G
19g.41410764A>CCA406004824BCKDHAc.236A>C (p.Tyr79Ser)
c.170A>C (p.Tyr57Ser)
n.256A>C
c.338A>C (p.Tyr113Ser)
c.43A>C
n.478A>C
19g.41410764A>GCA406004826BCKDHAc.236A>G (p.Tyr79Cys)
c.170A>G (p.Tyr57Cys)
n.256A>G
c.338A>G (p.Tyr113Cys)
c.43A>G
n.478A>G
19g.41410764A>TCA406004828BCKDHAc.236A>T (p.Tyr79Phe)
c.170A>T (p.Tyr57Phe)
n.256A>T
c.338A>T (p.Tyr113Phe)
c.43A>T
n.478A>T
19g.41410765C>ACA406004830BCKDHAc.237C>A (p.Tyr79Ter)
c.171C>A (p.Tyr57Ter)
n.257C>A
c.339C>A (p.Tyr113Ter)
c.44C>A
n.479C>A
19g.41410765C>GCA406004832BCKDHAc.237C>G (p.Tyr79Ter)
c.171C>G (p.Tyr57Ter)
n.257C>G
c.339C>G (p.Tyr113Ter)
c.44C>G
n.479C>G
19g.41410765C>TCA507555492BCKDHAc.237C>T (p.Tyr79=)
c.171C>T (p.Tyr57=)
n.257C>T
c.339C>T (p.Tyr113=)
c.44C>T
n.479C>T
19g.41410766C>ACA406004835BCKDHAc.238C>A (p.Arg80Ser)
c.172C>A (p.Arg58Ser)
n.258C>A
c.340C>A (p.Arg114Ser)
c.45C>A
n.480C>A
19g.41410766C=CA2336453810BCKDHAc.238C= (p.Arg80=)
c.172C= (p.Arg58=)
n.258C=
c.340C= (p.Arg114=)
c.45C=
n.480C=
19g.41410766C>GCA406004837BCKDHAc.238C>G (p.Arg80Gly)
c.172C>G (p.Arg58Gly)
n.258C>G
c.340C>G (p.Arg114Gly)
c.45C>G
n.480C>G
19g.41410766C>TCA9461030BCKDHAc.238C>T (p.Arg80Cys)
c.172C>T (p.Arg58Cys)
n.258C>T
c.340C>T (p.Arg114Cys)
c.45C>T
n.480C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410767G>ACA9461031BCKDHAc.239G>A (p.Arg80His)
c.173G>A (p.Arg58His)
n.259G>A
c.341G>A (p.Arg114His)
c.46G>A
n.481G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410767G>CCA406004842BCKDHAc.239G>C (p.Arg80Pro)
c.173G>C (p.Arg58Pro)
n.259G>C
c.341G>C (p.Arg114Pro)
c.46G>C
n.481G>C
19g.41410767G=CA2336453811BCKDHAc.239G= (p.Arg80=)
c.173G= (p.Arg58=)
n.259G=
c.341G= (p.Arg114=)
c.46G=
n.481G=
19g.41410767G>TCA406004844BCKDHAc.239G>T (p.Arg80Leu)
c.173G>T (p.Arg58Leu)
n.259G>T
c.341G>T (p.Arg114Leu)
c.46G>T
n.481G>T
19g.41410768C>ACA507555498BCKDHAc.240C>A (p.Arg80=)
c.174C>A (p.Arg58=)
n.260C>A
c.342C>A (p.Arg114=)
c.47C>A
n.482C>A
19g.41410768C=CA2336453812BCKDHAc.240C= (p.Arg80=)
c.174C= (p.Arg58=)
n.260C=
c.342C= (p.Arg114=)
c.47C=
n.482C=
19g.41410768C>GCA507555499BCKDHAc.240C>G (p.Arg80=)
c.174C>G (p.Arg58=)
n.260C>G
c.342C>G (p.Arg114=)
c.47C>G
n.482C>G
19g.41410768C>TCA9461032BCKDHAc.240C>T (p.Arg80=)
c.174C>T (p.Arg58=)
n.260C>T
c.342C>T (p.Arg114=)
c.47C>T
n.482C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410769G>ACA9461033BCKDHAc.241G>A (p.Val81Ile)
c.175G>A (p.Val59Ile)
n.261G>A
c.343G>A (p.Val115Ile)
c.48G>A
n.483G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410769G>CCA406004853BCKDHAc.241G>C (p.Val81Leu)
c.175G>C (p.Val59Leu)
n.261G>C
c.343G>C (p.Val115Leu)
c.48G>C
n.483G>C
19g.41410769G=CA2336453813BCKDHAc.241G= (p.Val81=)
c.175G= (p.Val59=)
n.261G=
c.343G= (p.Val115=)
c.48G=
n.483G=
19g.41410769G>TCA406004851BCKDHAc.241G>T (p.Val81Phe)
c.175G>T (p.Val59Phe)
n.261G>T
c.343G>T (p.Val115Phe)
c.48G>T
n.483G>T
19g.41410770T>ACA406004856BCKDHAc.242T>A (p.Val81Asp)
c.176T>A (p.Val59Asp)
n.262T>A
c.344T>A (p.Val115Asp)
c.49T>A
n.484T>A
19g.41410770T>CCA406004859BCKDHAc.242T>C (p.Val81Ala)
c.176T>C (p.Val59Ala)
n.262T>C
c.344T>C (p.Val115Ala)
c.49T>C
n.484T>C
19g.41410770T>GCA406004860BCKDHAc.242T>G (p.Val81Gly)
c.176T>G (p.Val59Gly)
n.262T>G
c.344T>G (p.Val115Gly)
c.49T>G
n.484T>G

Number of alleles fetched