Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410913C>TCA2573156387BCKDHAc.289-10C>T (n.289-10C>T)
c.223-10C>T (n.223-10C>T)
n.405C>T
c.391-10C>T (n.391-10C>T)
c.96-10C>T
c.288+97C>T (n.288+97C>T)
 ClinVar dbSNP
19g.41410914C=CA2336453903BCKDHAc.289-9C= (n.289-9C=)
c.223-9C= (n.223-9C=)
n.406C=
c.391-9C= (n.391-9C=)
c.96-9C=
c.288+98C= (n.288+98C=)
19g.41410914C>TCA2336453904BCKDHAc.289-9C>T (n.289-9C>T)
c.223-9C>T (n.223-9C>T)
n.406C>T
c.391-9C>T (n.391-9C>T)
c.96-9C>T
c.288+98C>T (n.288+98C>T)
 dbSNP gnomAD v4
19g.41410915A=CA2336453905BCKDHAc.289-8A= (n.289-8A=)
c.223-8A= (n.223-8A=)
n.407A=
c.391-8A= (n.391-8A=)
c.96-8A=
c.288+99A= (n.288+99A=)
19g.41410915A>CCA2336453906BCKDHAc.289-8A>C (n.289-8A>C)
c.223-8A>C (n.223-8A>C)
n.407A>C
c.391-8A>C (n.391-8A>C)
c.96-8A>C
c.288+99A>C (n.288+99A>C)
 ClinVar dbSNP
19g.41410916C>ACA2739276852BCKDHAc.289-7C>A (n.289-7C>A)
c.223-7C>A (n.223-7C>A)
n.408C>A
c.391-7C>A (n.391-7C>A)
c.96-7C>A
c.288+100C>A (n.288+100C>A)
 ClinVar
19g.41410916C=CA2336453907BCKDHAc.289-7C= (n.289-7C=)
c.223-7C= (n.223-7C=)
n.408C=
c.391-7C= (n.391-7C=)
c.96-7C=
c.288+100C= (n.288+100C=)
19g.41410916C>TCA633165035BCKDHAc.289-7C>T (n.289-7C>T)
c.223-7C>T (n.223-7C>T)
n.408C>T
c.391-7C>T (n.391-7C>T)
c.96-7C>T
c.288+100C>T (n.288+100C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410917C>ACA2585306836BCKDHAc.289-6C>A (n.289-6C>A)
c.223-6C>A (n.223-6C>A)
n.409C>A
c.391-6C>A (n.391-6C>A)
c.96-6C>A
c.288+101C>A (n.288+101C>A)
 gnomAD v4
19g.41410917C=CA2336453908BCKDHAc.289-6C= (n.289-6C=)
c.223-6C= (n.223-6C=)
n.409C=
c.391-6C= (n.391-6C=)
c.96-6C=
c.288+101C= (n.288+101C=)
19g.41410917C>GCA633165036BCKDHAc.289-6C>G (n.289-6C>G)
c.223-6C>G (n.223-6C>G)
n.409C>G
c.391-6C>G (n.391-6C>G)
c.96-6C>G
c.288+101C>G (n.288+101C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410917C>TCA2585306837BCKDHAc.289-6C>T (n.289-6C>T)
c.223-6C>T (n.223-6C>T)
n.409C>T
c.391-6C>T (n.391-6C>T)
c.96-6C>T
c.288+101C>T (n.288+101C>T)
 dbSNP gnomAD v4
19g.41410918C=CA2336453909BCKDHAc.289-5C= (n.289-5C=)
c.223-5C= (n.223-5C=)
n.410C=
c.391-5C= (n.391-5C=)
c.96-5C=
c.288+102C= (n.288+102C=)
19g.41410918C>TCA9461076BCKDHAc.289-5C>T (n.289-5C>T)
c.223-5C>T (n.223-5C>T)
n.410C>T
c.391-5C>T (n.391-5C>T)
c.96-5C>T
c.288+102C>T (n.288+102C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G>ACA9461078BCKDHAc.289-4G>A (n.289-4G>A)
c.223-4G>A (n.223-4G>A)
n.411G>A
c.391-4G>A (n.391-4G>A)
c.96-4G>A
c.288+103G>A (n.288+103G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G>CCA9461077BCKDHAc.289-4G>C (n.289-4G>C)
c.223-4G>C (n.223-4G>C)
n.411G>C
c.391-4G>C (n.391-4G>C)
c.96-4G>C
c.288+103G>C (n.288+103G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G=CA2336453910BCKDHAc.289-4G= (n.289-4G=)
c.223-4G= (n.223-4G=)
n.411G=
c.391-4G= (n.391-4G=)
c.96-4G=
c.288+103G= (n.288+103G=)
19g.41410919G>TCA2585306838BCKDHAc.289-4G>T (n.289-4G>T)
c.223-4G>T (n.223-4G>T)
n.411G>T
c.391-4G>T (n.391-4G>T)
c.96-4G>T
c.288+103G>T (n.288+103G>T)
 gnomAD v4
19g.41410921A>CCA406005235BCKDHAc.289-2A>C (n.289-2A>C)
c.223-2A>C (n.223-2A>C)
n.413A>C
c.391-2A>C (n.391-2A>C)
c.96-2A>C
c.288+105A>C (n.288+105A>C)
19g.41410921A>GCA406005229BCKDHAc.289-2A>G (n.289-2A>G)
c.223-2A>G (n.223-2A>G)
n.413A>G
c.391-2A>G (n.391-2A>G)
c.96-2A>G
c.288+105A>G (n.288+105A>G)
19g.41410921A>TCA406005232BCKDHAc.289-2A>T (n.289-2A>T)
c.223-2A>T (n.223-2A>T)
n.413A>T
c.391-2A>T (n.391-2A>T)
c.96-2A>T
c.288+105A>T (n.288+105A>T)
19g.41410922G>ACA9461079BCKDHAc.289-1G>A (n.289-1G>A)
c.223-1G>A (n.223-1G>A)
n.414G>A
c.391-1G>A (n.391-1G>A)
c.96-1G>A
c.288+106G>A (n.288+106G>A)
 dbSNP ExAC gnomAD v2
19g.41410922G>CCA406005239BCKDHAc.289-1G>C (n.289-1G>C)
c.223-1G>C (n.223-1G>C)
n.414G>C
c.391-1G>C (n.391-1G>C)
c.96-1G>C
c.288+106G>C (n.288+106G>C)
19g.41410922G=CA2336453911BCKDHAc.289-1G= (n.289-1G=)
c.223-1G= (n.223-1G=)
n.414G=
c.391-1G= (n.391-1G=)
c.96-1G=
c.288+106G= (n.288+106G=)
19g.41410922G>TCA406005242BCKDHAc.289-1G>T (n.289-1G>T)
c.223-1G>T (n.223-1G>T)
n.414G>T
c.391-1G>T (n.391-1G>T)
c.96-1G>T
c.288+106G>T (n.288+106G>T)
19g.41410923C>ACA406005245BCKDHAc.289C>A (p.Leu97Met)
c.223C>A (p.Leu75Met)
n.415C>A
c.391C>A (p.Leu131Met)
c.96C>A
c.288+107C>A (n.288+107C>A)
19g.41410923C>GCA406005247BCKDHAc.289C>G (p.Leu97Val)
c.223C>G (p.Leu75Val)
n.415C>G
c.391C>G (p.Leu131Val)
c.96C>G
c.288+107C>G (n.288+107C>G)
19g.41410923C>TCA507555623BCKDHAc.289C>T (p.Leu97=)
c.223C>T (p.Leu75=)
n.415C>T
c.391C>T (p.Leu131=)
c.96C>T
c.288+107C>T (n.288+107C>T)
19g.41410924T>ACA406005251BCKDHAc.290T>A (p.Leu97Gln)
c.224T>A (p.Leu75Gln)
n.416T>A
c.392T>A (p.Leu131Gln)
c.97T>A
c.288+108T>A (n.288+108T>A)
 gnomAD v4
19g.41410924T>CCA406005257BCKDHAc.290T>C (p.Leu97Pro)
c.224T>C (p.Leu75Pro)
n.416T>C
c.392T>C (p.Leu131Pro)
c.97T>C
c.288+108T>C (n.288+108T>C)
19g.41410924T>GCA406005254BCKDHAc.290T>G (p.Leu97Arg)
c.224T>G (p.Leu75Arg)
n.416T>G
c.392T>G (p.Leu131Arg)
c.97T>G
c.288+108T>G (n.288+108T>G)
19g.41410925G>ACA507555626BCKDHAc.291G>A (p.Leu97=)
c.225G>A (p.Leu75=)
n.417G>A
c.393G>A (p.Leu131=)
c.98G>A
c.288+109G>A (n.288+109G>A)
 ClinVar
19g.41410925G>CCA308515686BCKDHAc.291G>C (p.Leu97=)
c.225G>C (p.Leu75=)
n.417G>C
c.393G>C (p.Leu131=)
c.98G>C
c.288+109G>C (n.288+109G>C)
19g.41410925G>TCA507555625BCKDHAc.291G>T (p.Leu97=)
c.225G>T (p.Leu75=)
n.417G>T
c.393G>T (p.Leu131=)
c.98G>T
c.288+109G>T (n.288+109G>T)
19g.41410926C>ACA406005263BCKDHAc.292C>A (p.Pro98Thr)
c.226C>A (p.Pro76Thr)
n.418C>A
c.394C>A (p.Pro132Thr)
c.99C>A
c.288+110C>A (n.288+110C>A)
19g.41410926C>GCA406005264BCKDHAc.292C>G (p.Pro98Ala)
c.226C>G (p.Pro76Ala)
n.418C>G
c.394C>G (p.Pro132Ala)
c.99C>G
c.288+110C>G (n.288+110C>G)
19g.41410926C>TCA406005265BCKDHAc.292C>T (p.Pro98Ser)
c.226C>T (p.Pro76Ser)
n.418C>T
c.394C>T (p.Pro132Ser)
c.99C>T
c.288+110C>T (n.288+110C>T)
 gnomAD v4
19g.41410926_41410927delCA2580097285BCKDHAc.292_293del (p.Pro98GlufsTer15)
c.226_227del (p.Pro76GlufsTer15)
n.418_419del
c.394_395del (p.Pro132GlufsTer15)
c.99_100del
c.288+110_288+111del (n.288+110_288+111del)
 ClinVar
19g.41410927C>ACA406005267BCKDHAc.293C>A (p.Pro98Gln)
c.227C>A (p.Pro76Gln)
n.419C>A
c.395C>A (p.Pro132Gln)
c.100C>A
c.288+111C>A (n.288+111C>A)
19g.41410927C=CA2336453912BCKDHAc.293C= (p.Pro98=)
c.227C= (p.Pro76=)
n.419C=
c.395C= (p.Pro132=)
c.100C=
c.288+111C= (n.288+111C=)
19g.41410927C>GCA406005268BCKDHAc.293C>G (p.Pro98Arg)
c.227C>G (p.Pro76Arg)
n.419C>G
c.395C>G (p.Pro132Arg)
c.100C>G
c.288+111C>G (n.288+111C>G)
 gnomAD v4
19g.41410927C>TCA9461080BCKDHAc.293C>T (p.Pro98Leu)
c.227C>T (p.Pro76Leu)
n.419C>T
c.395C>T (p.Pro132Leu)
c.100C>T
c.288+111C>T (n.288+111C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410928G>ACA9461081BCKDHAc.294G>A (p.Pro98=)
c.228G>A (p.Pro76=)
n.420G>A
c.396G>A (p.Pro132=)
c.101G>A
c.288+112G>A (n.288+112G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410928G>CCA507555628BCKDHAc.294G>C (p.Pro98=)
c.228G>C (p.Pro76=)
n.420G>C
c.396G>C (p.Pro132=)
c.101G>C
c.288+112G>C (n.288+112G>C)
 ClinVar dbSNP gnomAD v4
19g.41410928G=CA2336453913BCKDHAc.294G= (p.Pro98=)
c.228G= (p.Pro76=)
n.420G=
c.396G= (p.Pro132=)
c.101G=
c.288+112G= (n.288+112G=)
19g.41410928G>TCA507555627BCKDHAc.294G>T (p.Pro98=)
c.228G>T (p.Pro76=)
n.420G>T
c.396G>T (p.Pro132=)
c.101G>T
c.288+112G>T (n.288+112G>T)
19g.41410929A>CCA406005274BCKDHAc.295A>C (p.Lys99Gln)
c.229A>C (p.Lys77Gln)
n.421A>C
c.397A>C (p.Lys133Gln)
c.102A>C
c.288+113A>C (n.288+113A>C)
19g.41410929A>GCA406005275BCKDHAc.295A>G (p.Lys99Glu)
c.229A>G (p.Lys77Glu)
n.421A>G
c.397A>G (p.Lys133Glu)
c.102A>G
c.288+113A>G (n.288+113A>G)
 gnomAD v4
19g.41410929A>TCA406005277BCKDHAc.295A>T (p.Lys99Ter)
c.229A>T (p.Lys77Ter)
n.421A>T
c.397A>T (p.Lys133Ter)
c.102A>T
c.288+113A>T (n.288+113A>T)
19g.41410930A>CCA406005286BCKDHAc.296A>C (p.Lys99Thr)
c.230A>C (p.Lys77Thr)
n.422A>C
c.398A>C (p.Lys133Thr)
c.103A>C
c.288+114A>C (n.288+114A>C)
19g.41410930A>GCA406005282BCKDHAc.296A>G (p.Lys99Arg)
c.230A>G (p.Lys77Arg)
n.422A>G
c.398A>G (p.Lys133Arg)
c.103A>G
c.288+114A>G (n.288+114A>G)
19g.41410930A>TCA406005281BCKDHAc.296A>T (p.Lys99Met)
c.230A>T (p.Lys77Met)
n.422A>T
c.398A>T (p.Lys133Met)
c.103A>T
c.288+114A>T (n.288+114A>T)
19g.41410931G>ACA507555630BCKDHAc.297G>A (p.Lys99=)
c.231G>A (p.Lys77=)
n.423G>A
c.399G>A (p.Lys133=)
c.104G>A
c.288+115G>A (n.288+115G>A)
19g.41410931G>CCA406005293BCKDHAc.297G>C (p.Lys99Asn)
c.231G>C (p.Lys77Asn)
n.423G>C
c.399G>C (p.Lys133Asn)
c.104G>C
c.288+115G>C (n.288+115G>C)
19g.41410931G=CA2336453914BCKDHAc.297G= (p.Lys99=)
c.231G= (p.Lys77=)
n.423G=
c.399G= (p.Lys133=)
c.104G=
c.288+115G= (n.288+115G=)
19g.41410931G>TCA406005289BCKDHAc.297G>T (p.Lys99Asn)
c.231G>T (p.Lys77Asn)
n.423G>T
c.399G>T (p.Lys133Asn)
c.104G>T
c.288+115G>T (n.288+115G>T)
 ClinVar dbSNP
19g.41410932G>ACA406005306BCKDHAc.298G>A (p.Glu100Lys)
c.232G>A (p.Glu78Lys)
n.424G>A
c.400G>A (p.Glu134Lys)
c.105G>A
c.288+116G>A (n.288+116G>A)
 gnomAD v4
19g.41410932G>CCA406005307BCKDHAc.298G>C (p.Glu100Gln)
c.232G>C (p.Glu78Gln)
n.424G>C
c.400G>C (p.Glu134Gln)
c.105G>C
c.288+116G>C (n.288+116G>C)
19g.41410932G>TCA406005308BCKDHAc.298G>T (p.Glu100Ter)
c.232G>T (p.Glu78Ter)
n.424G>T
c.400G>T (p.Glu134Ter)
c.105G>T
c.288+116G>T (n.288+116G>T)
19g.41410933A=CA2336453915BCKDHAc.299A= (p.Glu100=)
c.233A= (p.Glu78=)
n.425A=
c.401A= (p.Glu134=)
c.106A=
c.288+117A= (n.288+117A=)
19g.41410933A>CCA406005311BCKDHAc.299A>C (p.Glu100Ala)
c.233A>C (p.Glu78Ala)
n.425A>C
c.401A>C (p.Glu134Ala)
c.106A>C
c.288+117A>C (n.288+117A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41410933A>GCA406005313BCKDHAc.299A>G (p.Glu100Gly)
c.233A>G (p.Glu78Gly)
n.425A>G
c.401A>G (p.Glu134Gly)
c.106A>G
c.288+117A>G (n.288+117A>G)
19g.41410933A>TCA406005320BCKDHAc.299A>T (p.Glu100Val)
c.233A>T (p.Glu78Val)
n.425A>T
c.401A>T (p.Glu134Val)
c.106A>T
c.288+117A>T (n.288+117A>T)
19g.41410934G>ACA507555632BCKDHAc.300G>A (p.Glu100=)
c.234G>A (p.Glu78=)
n.426G>A
c.402G>A (p.Glu134=)
c.107G>A
c.288+118G>A (n.288+118G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41410934G>CCA406005326BCKDHAc.300G>C (p.Glu100Asp)
c.234G>C (p.Glu78Asp)
n.426G>C
c.402G>C (p.Glu134Asp)
c.107G>C
c.288+118G>C (n.288+118G>C)
19g.41410934G=CA2336453916BCKDHAc.300G= (p.Glu100=)
c.234G= (p.Glu78=)
n.426G=
c.402G= (p.Glu134=)
c.107G=
c.288+118G= (n.288+118G=)
19g.41410934G>TCA406005331BCKDHAc.300G>T (p.Glu100Asp)
c.234G>T (p.Glu78Asp)
n.426G>T
c.402G>T (p.Glu134Asp)
c.107G>T
c.288+118G>T (n.288+118G>T)
19g.41410935A>CCA406005340BCKDHAc.301A>C (p.Lys101Gln)
c.235A>C (p.Lys79Gln)
n.427A>C
c.403A>C (p.Lys135Gln)
c.108A>C
c.288+119A>C (n.288+119A>C)
19g.41410935A>GCA406005351BCKDHAc.301A>G (p.Lys101Glu)
c.235A>G (p.Lys79Glu)
n.427A>G
c.403A>G (p.Lys135Glu)
c.108A>G
c.288+119A>G (n.288+119A>G)
 gnomAD v4
19g.41410935A>TCA406005372BCKDHAc.301A>T (p.Lys101Ter)
c.235A>T (p.Lys79Ter)
n.427A>T
c.403A>T (p.Lys135Ter)
c.108A>T
c.288+119A>T (n.288+119A>T)
19g.41410936A>CCA406005381BCKDHAc.302A>C (p.Lys101Thr)
c.236A>C (p.Lys79Thr)
n.428A>C
c.404A>C (p.Lys135Thr)
c.109A>C
c.288+120A>C (n.288+120A>C)
19g.41410936A>GCA406005385BCKDHAc.302A>G (p.Lys101Arg)
c.236A>G (p.Lys79Arg)
n.428A>G
c.404A>G (p.Lys135Arg)
c.109A>G
c.288+120A>G (n.288+120A>G)
19g.41410936A>TCA406005378BCKDHAc.302A>T (p.Lys101Met)
c.236A>T (p.Lys79Met)
n.428A>T
c.404A>T (p.Lys135Met)
c.109A>T
c.288+120A>T (n.288+120A>T)
19g.41410937G>ACA507555634BCKDHAc.303G>A (p.Lys101=)
c.237G>A (p.Lys79=)
n.429G>A
c.405G>A (p.Lys135=)
c.110G>A
c.288+121G>A (n.288+121G>A)
19g.41410937G>CCA406005390BCKDHAc.303G>C (p.Lys101Asn)
c.237G>C (p.Lys79Asn)
n.429G>C
c.405G>C (p.Lys135Asn)
c.110G>C
c.288+121G>C (n.288+121G>C)
 ClinVar gnomAD v4
19g.41410937G>TCA406005392BCKDHAc.303G>T (p.Lys101Asn)
c.237G>T (p.Lys79Asn)
n.429G>T
c.405G>T (p.Lys135Asn)
c.110G>T
c.288+121G>T (n.288+121G>T)
19g.41410938G>ACA406005399BCKDHAc.304G>A (p.Val102Met)
c.238G>A (p.Val80Met)
n.430G>A
c.406G>A (p.Val136Met)
c.111G>A
c.288+122G>A (n.288+122G>A)
 dbSNP
19g.41410938G>CCA406005400BCKDHAc.304G>C (p.Val102Leu)
c.238G>C (p.Val80Leu)
n.430G>C
c.406G>C (p.Val136Leu)
c.111G>C
c.288+122G>C (n.288+122G>C)
19g.41410938G=CA2336453917BCKDHAc.304G= (p.Val102=)
c.238G= (p.Val80=)
n.430G=
c.406G= (p.Val136=)
c.111G=
c.288+122G= (n.288+122G=)
19g.41410938G>TCA308515701BCKDHAc.304G>T (p.Val102Leu)
c.238G>T (p.Val80Leu)
n.430G>T
c.406G>T (p.Val136Leu)
c.111G>T
c.288+122G>T (n.288+122G>T)
 dbSNP
19g.41410939T>ACA406005411BCKDHAc.305T>A (p.Val102Glu)
c.239T>A (p.Val80Glu)
n.431T>A
c.407T>A (p.Val136Glu)
c.112T>A
c.288+123T>A (n.288+123T>A)
19g.41410939T>CCA406005404BCKDHAc.305T>C (p.Val102Ala)
c.239T>C (p.Val80Ala)
n.431T>C
c.407T>C (p.Val136Ala)
c.112T>C
c.288+123T>C (n.288+123T>C)
 dbSNP
19g.41410939T>GCA406005407BCKDHAc.305T>G (p.Val102Gly)
c.239T>G (p.Val80Gly)
n.431T>G
c.407T>G (p.Val136Gly)
c.112T>G
c.288+123T>G (n.288+123T>G)
19g.41410939T=CA2336453918BCKDHAc.305T= (p.Val102=)
c.239T= (p.Val80=)
n.431T=
c.407T= (p.Val136=)
c.112T=
c.288+123T= (n.288+123T=)
19g.41410940G>ACA9461082BCKDHAc.306G>A (p.Val102=)
c.240G>A (p.Val80=)
n.432G>A
c.408G>A (p.Val136=)
c.113G>A
c.288+124G>A (n.288+124G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410940G>CCA507555637BCKDHAc.306G>C (p.Val102=)
c.240G>C (p.Val80=)
n.432G>C
c.408G>C (p.Val136=)
c.113G>C
c.288+124G>C (n.288+124G>C)
19g.41410940G=CA2336453919BCKDHAc.306G= (p.Val102=)
c.240G= (p.Val80=)
n.432G=
c.408G= (p.Val136=)
c.113G=
c.288+124G= (n.288+124G=)
19g.41410940G>TCA507555638BCKDHAc.306G>T (p.Val102=)
c.240G>T (p.Val80=)
n.432G>T
c.408G>T (p.Val136=)
c.113G>T
c.288+124G>T (n.288+124G>T)
19g.41410941C>ACA406005426BCKDHAc.307C>A (p.Leu103Met)
c.241C>A (p.Leu81Met)
n.433C>A
c.409C>A (p.Leu137Met)
c.114C>A
c.288+125C>A (n.288+125C>A)
19g.41410941C>GCA406005433BCKDHAc.307C>G (p.Leu103Val)
c.241C>G (p.Leu81Val)
n.433C>G
c.409C>G (p.Leu137Val)
c.114C>G
c.288+125C>G (n.288+125C>G)
19g.41410941C>TCA507555640BCKDHAc.307C>T (p.Leu103=)
c.241C>T (p.Leu81=)
n.433C>T
c.409C>T (p.Leu137=)
c.114C>T
c.288+125C>T (n.288+125C>T)
19g.41410942T>ACA406005436BCKDHAc.308T>A (p.Leu103Gln)
c.242T>A (p.Leu81Gln)
n.434T>A
c.410T>A (p.Leu137Gln)
c.115T>A
c.288+126T>A (n.288+126T>A)
19g.41410942T>CCA406005439BCKDHAc.308T>C (p.Leu103Pro)
c.242T>C (p.Leu81Pro)
n.434T>C
c.410T>C (p.Leu137Pro)
c.115T>C
c.288+126T>C (n.288+126T>C)
 ClinVar
19g.41410942T>GCA406005441BCKDHAc.308T>G (p.Leu103Arg)
c.242T>G (p.Leu81Arg)
n.434T>G
c.410T>G (p.Leu137Arg)
c.115T>G
c.288+126T>G (n.288+126T>G)
19g.41410943G>ACA507555643BCKDHAc.309G>A (p.Leu103=)
c.243G>A (p.Leu81=)
n.435G>A
c.411G>A (p.Leu137=)
c.116G>A
c.288+127G>A (n.288+127G>A)
 ClinVar dbSNP
19g.41410943G>CCA507555642BCKDHAc.309G>C (p.Leu103=)
c.243G>C (p.Leu81=)
n.435G>C
c.411G>C (p.Leu137=)
c.116G>C
c.288+127G>C (n.288+127G>C)
19g.41410943G=CA2336453920BCKDHAc.309G= (p.Leu103=)
c.243G= (p.Leu81=)
n.435G=
c.411G= (p.Leu137=)
c.116G=
c.288+127G= (n.288+127G=)
19g.41410943G>TCA507555641BCKDHAc.309G>T (p.Leu103=)
c.243G>T (p.Leu81=)
n.435G>T
c.411G>T (p.Leu137=)
c.116G>T
c.288+127G>T (n.288+127G>T)
19g.41410944A>CCA406005449BCKDHAc.310A>C (p.Lys104Gln)
c.244A>C (p.Lys82Gln)
n.436A>C
c.412A>C (p.Lys138Gln)
c.117A>C
c.288+128A>C (n.288+128A>C)
19g.41410944A>GCA406005453BCKDHAc.310A>G (p.Lys104Glu)
c.244A>G (p.Lys82Glu)
n.436A>G
c.412A>G (p.Lys138Glu)
c.117A>G
c.288+128A>G (n.288+128A>G)
19g.41410944A>TCA406005446BCKDHAc.310A>T (p.Lys104Ter)
c.244A>T (p.Lys82Ter)
n.436A>T
c.412A>T (p.Lys138Ter)
c.117A>T
c.288+128A>T (n.288+128A>T)
19g.41410945A>CCA406005454BCKDHAc.311A>C (p.Lys104Thr)
c.245A>C (p.Lys82Thr)
n.437A>C
c.413A>C (p.Lys138Thr)
c.118A>C
c.288+129A>C (n.288+129A>C)
19g.41410945A>GCA406005455BCKDHAc.311A>G (p.Lys104Arg)
c.245A>G (p.Lys82Arg)
n.437A>G
c.413A>G (p.Lys138Arg)
c.118A>G
c.288+129A>G (n.288+129A>G)
19g.41410945A>TCA406005459BCKDHAc.311A>T (p.Lys104Met)
c.245A>T (p.Lys82Met)
n.437A>T
c.413A>T (p.Lys138Met)
c.118A>T
c.288+129A>T (n.288+129A>T)
19g.41410946G>ACA507555644BCKDHAc.312G>A (p.Lys104=)
c.246G>A (p.Lys82=)
n.438G>A
c.414G>A (p.Lys138=)
c.119G>A
c.288+130G>A (n.288+130G>A)
 dbSNP
19g.41410946G>CCA406005464BCKDHAc.312G>C (p.Lys104Asn)
c.246G>C (p.Lys82Asn)
n.438G>C
c.414G>C (p.Lys138Asn)
c.119G>C
c.288+130G>C (n.288+130G>C)
19g.41410946G=CA2336453921BCKDHAc.312G= (p.Lys104=)
c.246G= (p.Lys82=)
n.438G=
c.414G= (p.Lys138=)
c.119G=
c.288+130G= (n.288+130G=)
19g.41410946G>TCA406005466BCKDHAc.312G>T (p.Lys104Asn)
c.246G>T (p.Lys82Asn)
n.438G>T
c.414G>T (p.Lys138Asn)
c.119G>T
c.288+130G>T (n.288+130G>T)
19g.41410947C>ACA406005479BCKDHAc.313C>A (p.Leu105Ile)
c.247C>A (p.Leu83Ile)
n.439C>A
c.415C>A (p.Leu139Ile)
c.120C>A
c.288+131C>A (n.288+131C>A)
19g.41410947C=CA2336453922BCKDHAc.313C= (p.Leu105=)
c.247C= (p.Leu83=)
n.439C=
c.415C= (p.Leu139=)
c.120C=
c.288+131C= (n.288+131C=)
19g.41410947C>GCA406005472BCKDHAc.313C>G (p.Leu105Val)
c.247C>G (p.Leu83Val)
n.439C>G
c.415C>G (p.Leu139Val)
c.120C>G
c.288+131C>G (n.288+131C>G)
19g.41410947C>TCA9461083BCKDHAc.313C>T (p.Leu105Phe)
c.247C>T (p.Leu83Phe)
n.439C>T
c.415C>T (p.Leu139Phe)
c.120C>T
c.288+131C>T (n.288+131C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410948T>ACA406005484BCKDHAc.314T>A (p.Leu105His)
c.248T>A (p.Leu83His)
n.440T>A
c.416T>A (p.Leu139His)
c.121T>A
c.288+132T>A (n.288+132T>A)
19g.41410948T>CCA406005485BCKDHAc.314T>C (p.Leu105Pro)
c.248T>C (p.Leu83Pro)
n.440T>C
c.416T>C (p.Leu139Pro)
c.121T>C
c.288+132T>C (n.288+132T>C)
19g.41410948T>GCA406005487BCKDHAc.314T>G (p.Leu105Arg)
c.248T>G (p.Leu83Arg)
n.440T>G
c.416T>G (p.Leu139Arg)
c.121T>G
c.288+132T>G (n.288+132T>G)
19g.41410949C>ACA507555647BCKDHAc.315C>A (p.Leu105=)
c.249C>A (p.Leu83=)
n.441C>A
c.417C>A (p.Leu139=)
c.122C>A
c.288+133C>A (n.288+133C>A)
19g.41410949C>GCA507555646BCKDHAc.315C>G (p.Leu105=)
c.249C>G (p.Leu83=)
n.441C>G
c.417C>G (p.Leu139=)
c.122C>G
c.288+133C>G (n.288+133C>G)
19g.41410949C>TCA507555645BCKDHAc.315C>T (p.Leu105=)
c.249C>T (p.Leu83=)
n.441C>T
c.417C>T (p.Leu139=)
c.122C>T
c.288+133C>T (n.288+133C>T)
 ClinVar
19g.41410950T>ACA406005490BCKDHAc.316T>A (p.Tyr106Asn)
c.250T>A (p.Tyr84Asn)
n.442T>A
c.418T>A (p.Tyr140Asn)
c.123T>A
c.288+134T>A (n.288+134T>A)
19g.41410950T>CCA406005504BCKDHAc.316T>C (p.Tyr106His)
c.250T>C (p.Tyr84His)
n.442T>C
c.418T>C (p.Tyr140His)
c.123T>C
c.288+134T>C (n.288+134T>C)
19g.41410950T>GCA406005507BCKDHAc.316T>G (p.Tyr106Asp)
c.250T>G (p.Tyr84Asp)
n.442T>G
c.418T>G (p.Tyr140Asp)
c.123T>G
c.288+134T>G (n.288+134T>G)
19g.41410951A>CCA406005521BCKDHAc.317A>C (p.Tyr106Ser)
c.251A>C (p.Tyr84Ser)
n.443A>C
c.419A>C (p.Tyr140Ser)
c.124A>C
c.288+135A>C (n.288+135A>C)
19g.41410951A>GCA406005513BCKDHAc.317A>G (p.Tyr106Cys)
c.251A>G (p.Tyr84Cys)
n.443A>G
c.419A>G (p.Tyr140Cys)
c.124A>G
c.288+135A>G (n.288+135A>G)
 gnomAD v4 COSMIC
19g.41410951A>TCA406005517BCKDHAc.317A>T (p.Tyr106Phe)
c.251A>T (p.Tyr84Phe)
n.443A>T
c.419A>T (p.Tyr140Phe)
c.124A>T
c.288+135A>T (n.288+135A>T)
19g.41410952C>ACA406005527BCKDHAc.318C>A (p.Tyr106Ter)
c.252C>A (p.Tyr84Ter)
n.444C>A
c.420C>A (p.Tyr140Ter)
c.125C>A
c.288+136C>A (n.288+136C>A)
 ClinVar
19g.41410952C>GCA406005532BCKDHAc.318C>G (p.Tyr106Ter)
c.252C>G (p.Tyr84Ter)
n.444C>G
c.420C>G (p.Tyr140Ter)
c.125C>G
c.288+136C>G (n.288+136C>G)
 ClinVar
19g.41410952C>TCA507555649BCKDHAc.318C>T (p.Tyr106=)
c.252C>T (p.Tyr84=)
n.444C>T
c.420C>T (p.Tyr140=)
c.125C>T
c.288+136C>T (n.288+136C>T)
 ClinVar
19g.41410953A=CA2336453923BCKDHAc.319A= (p.Lys107=)
c.253A= (p.Lys85=)
n.445A=
c.421A= (p.Lys141=)
c.126A=
c.288+137A= (n.288+137A=)
19g.41410953A>CCA406005537BCKDHAc.319A>C (p.Lys107Gln)
c.253A>C (p.Lys85Gln)
n.445A>C
c.421A>C (p.Lys141Gln)
c.126A>C
c.288+137A>C (n.288+137A>C)
19g.41410953A>GCA9461084BCKDHAc.319A>G (p.Lys107Glu)
c.253A>G (p.Lys85Glu)
n.445A>G
c.421A>G (p.Lys141Glu)
c.126A>G
c.288+137A>G (n.288+137A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410953A>TCA406005545BCKDHAc.319A>T (p.Lys107Ter)
c.253A>T (p.Lys85Ter)
n.445A>T
c.421A>T (p.Lys141Ter)
c.126A>T
c.288+137A>T (n.288+137A>T)
 ClinVar
19g.41410954A>CCA406005549BCKDHAc.320A>C (p.Lys107Thr)
c.254A>C (p.Lys85Thr)
n.446A>C
c.422A>C (p.Lys141Thr)
c.127A>C
c.288+138A>C (n.288+138A>C)
19g.41410954A>GCA406005554BCKDHAc.320A>G (p.Lys107Arg)
c.254A>G (p.Lys85Arg)
n.446A>G
c.422A>G (p.Lys141Arg)
c.127A>G
c.288+138A>G (n.288+138A>G)
19g.41410954A>TCA406005558BCKDHAc.320A>T (p.Lys107Met)
c.254A>T (p.Lys85Met)
n.446A>T
c.422A>T (p.Lys141Met)
c.127A>T
c.288+138A>T (n.288+138A>T)
19g.41410955G>ACA507555651BCKDHAc.321G>A (p.Lys107=)
c.255G>A (p.Lys85=)
n.447G>A
c.423G>A (p.Lys141=)
c.128G>A
c.288+139G>A (n.288+139G>A)
19g.41410955G>CCA406005563BCKDHAc.321G>C (p.Lys107Asn)
c.255G>C (p.Lys85Asn)
n.447G>C
c.423G>C (p.Lys141Asn)
c.128G>C
c.288+139G>C (n.288+139G>C)
19g.41410955G>TCA406005568BCKDHAc.321G>T (p.Lys107Asn)
c.255G>T (p.Lys85Asn)
n.447G>T
c.423G>T (p.Lys141Asn)
c.128G>T
c.288+139G>T (n.288+139G>T)
19g.41410956A=CA2336453924BCKDHAc.322A= (p.Ser108=)
c.256A= (p.Ser86=)
n.448A=
c.424A= (p.Ser142=)
c.129A=
c.288+140A= (n.288+140A=)
19g.41410956A>CCA406005571BCKDHAc.322A>C (p.Ser108Arg)
c.256A>C (p.Ser86Arg)
n.448A>C
c.424A>C (p.Ser142Arg)
c.129A>C
c.288+140A>C (n.288+140A>C)
19g.41410956A>GCA9461085BCKDHAc.322A>G (p.Ser108Gly)
c.256A>G (p.Ser86Gly)
n.448A>G
c.424A>G (p.Ser142Gly)
c.129A>G
c.288+140A>G (n.288+140A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410956A>TCA406005576BCKDHAc.322A>T (p.Ser108Cys)
c.256A>T (p.Ser86Cys)
n.448A>T
c.424A>T (p.Ser142Cys)
c.129A>T
c.288+140A>T (n.288+140A>T)
19g.41410957G>ACA406005583BCKDHAc.323G>A (p.Ser108Asn)
c.257G>A (p.Ser86Asn)
n.449G>A
c.425G>A (p.Ser142Asn)
c.130G>A
c.288+141G>A (n.288+141G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41410957G>CCA406005592BCKDHAc.323G>C (p.Ser108Thr)
c.257G>C (p.Ser86Thr)
n.449G>C
c.425G>C (p.Ser142Thr)
c.130G>C
c.288+141G>C (n.288+141G>C)
19g.41410957G=CA2336453925BCKDHAc.323G= (p.Ser108=)
c.257G= (p.Ser86=)
n.449G=
c.425G= (p.Ser142=)
c.130G=
c.288+141G= (n.288+141G=)
19g.41410957G>TCA406005586BCKDHAc.323G>T (p.Ser108Ile)
c.257G>T (p.Ser86Ile)
n.449G>T
c.425G>T (p.Ser142Ile)
c.130G>T
c.288+141G>T (n.288+141G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41410958C>ACA406005605BCKDHAc.324C>A (p.Ser108Arg)
c.258C>A (p.Ser86Arg)
n.450C>A
c.426C>A (p.Ser142Arg)
c.131C>A
c.288+142C>A (n.288+142C>A)
19g.41410958C=CA2336453926BCKDHAc.324C= (p.Ser108=)
c.258C= (p.Ser86=)
n.450C=
c.426C= (p.Ser142=)
c.131C=
c.288+142C= (n.288+142C=)
19g.41410958C>GCA406005610BCKDHAc.324C>G (p.Ser108Arg)
c.258C>G (p.Ser86Arg)
n.450C>G
c.426C>G (p.Ser142Arg)
c.131C>G
c.288+142C>G (n.288+142C>G)
19g.41410958C>TCA9461086BCKDHAc.324C>T (p.Ser108=)
c.258C>T (p.Ser86=)
n.450C>T
c.426C>T (p.Ser142=)
c.131C>T
c.288+142C>T (n.288+142C>T)
 ClinVar dbSNP ExAC gnomAD v2
19g.41410959A=CA2336453927BCKDHAc.325A= (p.Met109=)
c.259A= (p.Met87=)
n.451A=
c.427A= (p.Met143=)
c.132A=
c.288+143A= (n.288+143A=)
19g.41410959A>CCA406005621BCKDHAc.325A>C (p.Met109Leu)
c.259A>C (p.Met87Leu)
n.451A>C
c.427A>C (p.Met143Leu)
c.132A>C
c.288+143A>C (n.288+143A>C)
19g.41410959A>GCA406005626BCKDHAc.325A>G (p.Met109Val)
c.259A>G (p.Met87Val)
n.451A>G
c.427A>G (p.Met143Val)
c.132A>G
c.288+143A>G (n.288+143A>G)
 dbSNP gnomAD v4
19g.41410959A>TCA406005630BCKDHAc.325A>T (p.Met109Leu)
c.259A>T (p.Met87Leu)
n.451A>T
c.427A>T (p.Met143Leu)
c.132A>T
c.288+143A>T (n.288+143A>T)
19g.41410960T>ACA9461087BCKDHAc.326T>A (p.Met109Lys)
c.260T>A (p.Met87Lys)
n.452T>A
c.428T>A (p.Met143Lys)
c.133T>A
c.288+144T>A (n.288+144T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410960T>CCA406005641BCKDHAc.326T>C (p.Met109Thr)
c.260T>C (p.Met87Thr)
n.452T>C
c.428T>C (p.Met143Thr)
c.133T>C
c.288+144T>C (n.288+144T>C)
19g.41410960T>GCA406005645BCKDHAc.326T>G (p.Met109Arg)
c.260T>G (p.Met87Arg)
n.452T>G
c.428T>G (p.Met143Arg)
c.133T>G
c.288+144T>G (n.288+144T>G)
19g.41410960T=CA2336453928BCKDHAc.326T= (p.Met109=)
c.260T= (p.Met87=)
n.452T=
c.428T= (p.Met143=)
c.133T=
c.288+144T= (n.288+144T=)
19g.41410961G>ACA406005646BCKDHAc.327G>A (p.Met109Ile)
c.261G>A (p.Met87Ile)
n.453G>A
c.429G>A (p.Met143Ile)
c.134G>A
c.288+145G>A (n.288+145G>A)
 COSMIC
19g.41410961G>CCA406005647BCKDHAc.327G>C (p.Met109Ile)
c.261G>C (p.Met87Ile)
n.453G>C
c.429G>C (p.Met143Ile)
c.134G>C
c.288+145G>C (n.288+145G>C)
19g.41410961G>TCA406005648BCKDHAc.327G>T (p.Met109Ile)
c.261G>T (p.Met87Ile)
n.453G>T
c.429G>T (p.Met143Ile)
c.134G>T
c.288+145G>T (n.288+145G>T)
 gnomAD v4
19g.41410962A=CA2336453929BCKDHAc.328A= (p.Thr110=)
c.262A= (p.Thr88=)
n.454A=
c.430A= (p.Thr144=)
c.135A=
c.288+146A= (n.288+146A=)
19g.41410962A>CCA406005654BCKDHAc.328A>C (p.Thr110Pro)
c.262A>C (p.Thr88Pro)
n.454A>C
c.430A>C (p.Thr144Pro)
c.135A>C
c.288+146A>C (n.288+146A>C)
19g.41410962A>GCA406005653BCKDHAc.328A>G (p.Thr110Ala)
c.262A>G (p.Thr88Ala)
n.454A>G
c.430A>G (p.Thr144Ala)
c.135A>G
c.288+146A>G (n.288+146A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41410962A>TCA406005652BCKDHAc.328A>T (p.Thr110Ser)
c.262A>T (p.Thr88Ser)
n.454A>T
c.430A>T (p.Thr144Ser)
c.135A>T
c.288+146A>T (n.288+146A>T)
 gnomAD v4
19g.41410963C>ACA406005658BCKDHAc.329C>A (p.Thr110Lys)
c.263C>A (p.Thr88Lys)
n.455C>A
c.431C>A (p.Thr144Lys)
c.136C>A
c.288+147C>A (n.288+147C>A)
19g.41410963C=CA2336453930BCKDHAc.329C= (p.Thr110=)
c.263C= (p.Thr88=)
n.455C=
c.431C= (p.Thr144=)
c.136C=
c.288+147C= (n.288+147C=)
19g.41410963C>GCA406005660BCKDHAc.329C>G (p.Thr110Arg)
c.263C>G (p.Thr88Arg)
n.455C>G
c.431C>G (p.Thr144Arg)
c.136C>G
c.288+147C>G (n.288+147C>G)
19g.41410963C>TCA308515736BCKDHAc.329C>T (p.Thr110Ile)
c.263C>T (p.Thr88Ile)
n.455C>T
c.431C>T (p.Thr144Ile)
c.136C>T
c.288+147C>T (n.288+147C>T)
 dbSNP gnomAD v4
19g.41410964A=CA2336453931BCKDHAc.330A= (p.Thr110=)
c.264A= (p.Thr88=)
n.456A=
c.432A= (p.Thr144=)
c.137A=
c.288+148A= (n.288+148A=)
19g.41410964A>CCA507555652BCKDHAc.330A>C (p.Thr110=)
c.264A>C (p.Thr88=)
n.456A>C
c.432A>C (p.Thr144=)
c.137A>C
c.288+148A>C (n.288+148A>C)
19g.41410964A>GCA507555653BCKDHAc.330A>G (p.Thr110=)
c.264A>G (p.Thr88=)
n.456A>G
c.432A>G (p.Thr144=)
c.137A>G
c.288+148A>G (n.288+148A>G)
 ClinVar gnomAD v4
19g.41410964A>TCA9461088BCKDHAc.330A>T (p.Thr110=)
c.264A>T (p.Thr88=)
n.456A>T
c.432A>T (p.Thr144=)
c.137A>T
c.288+148A>T (n.288+148A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410965C>ACA406005672BCKDHAc.331C>A (p.Leu111Met)
c.265C>A (p.Leu89Met)
n.457C>A
c.433C>A (p.Leu145Met)
c.138C>A
c.288+149C>A (n.288+149C>A)
19g.41410965C=CA2336453932BCKDHAc.331C= (p.Leu111=)
c.265C= (p.Leu89=)
n.457C=
c.433C= (p.Leu145=)
c.138C=
c.288+149C= (n.288+149C=)
19g.41410965C>GCA406005674BCKDHAc.331C>G (p.Leu111Val)
c.265C>G (p.Leu89Val)
n.457C>G
c.433C>G (p.Leu145Val)
c.138C>G
c.288+149C>G (n.288+149C>G)
19g.41410965C>TCA507555654BCKDHAc.331C>T (p.Leu111=)
c.265C>T (p.Leu89=)
n.457C>T
c.433C>T (p.Leu145=)
c.138C>T
c.288+149C>T (n.288+149C>T)
 dbSNP gnomAD v4
19g.41410966T>ACA406005680BCKDHAc.332T>A (p.Leu111Gln)
c.266T>A (p.Leu89Gln)
n.458T>A
c.434T>A (p.Leu145Gln)
c.139T>A
c.288+150T>A (n.288+150T>A)
 gnomAD v4
19g.41410966T>CCA406005684BCKDHAc.332T>C (p.Leu111Pro)
c.266T>C (p.Leu89Pro)
n.458T>C
c.434T>C (p.Leu145Pro)
c.139T>C
c.288+150T>C (n.288+150T>C)
 ClinVar dbSNP gnomAD v4
19g.41410966T>GCA406005689BCKDHAc.332T>G (p.Leu111Arg)
c.266T>G (p.Leu89Arg)
n.458T>G
c.434T>G (p.Leu145Arg)
c.139T>G
c.288+150T>G (n.288+150T>G)
19g.41410966T=CA2336453933BCKDHAc.332T= (p.Leu111=)
c.266T= (p.Leu89=)
n.458T=
c.434T= (p.Leu145=)
c.139T=
c.288+150T= (n.288+150T=)
19g.41410967G>ACA507555655BCKDHAc.333G>A (p.Leu111=)
c.267G>A (p.Leu89=)
n.459G>A
c.435G>A (p.Leu145=)
c.140G>A
c.288+151G>A (n.288+151G>A)
19g.41410967G>CCA507555657BCKDHAc.333G>C (p.Leu111=)
c.267G>C (p.Leu89=)
n.459G>C
c.435G>C (p.Leu145=)
c.140G>C
c.288+151G>C (n.288+151G>C)
19g.41410967G>TCA507555656BCKDHAc.333G>T (p.Leu111=)
c.267G>T (p.Leu89=)
n.459G>T
c.435G>T (p.Leu145=)
c.140G>T
c.288+151G>T (n.288+151G>T)
19g.41410968C>ACA406005694BCKDHAc.334C>A (p.Leu112Ile)
c.268C>A (p.Leu90Ile)
n.460C>A
c.436C>A (p.Leu146Ile)
c.141C>A
c.288+152C>A (n.288+152C>A)
 dbSNP
19g.41410968C=CA2336453934BCKDHAc.334C= (p.Leu112=)
c.268C= (p.Leu90=)
n.460C=
c.436C= (p.Leu146=)
c.141C=
c.288+152C= (n.288+152C=)
19g.41410968C>GCA406005696BCKDHAc.334C>G (p.Leu112Val)
c.268C>G (p.Leu90Val)
n.460C>G
c.436C>G (p.Leu146Val)
c.141C>G
c.288+152C>G (n.288+152C>G)
19g.41410968C>TCA406005699BCKDHAc.334C>T (p.Leu112Phe)
c.268C>T (p.Leu90Phe)
n.460C>T
c.436C>T (p.Leu146Phe)
c.141C>T
c.288+152C>T (n.288+152C>T)
19g.41410969T>ACA406005705BCKDHAc.335T>A (p.Leu112His)
c.269T>A (p.Leu90His)
n.461T>A
c.437T>A (p.Leu146His)
c.142T>A
c.288+153T>A (n.288+153T>A)
19g.41410969T>CCA406005707BCKDHAc.335T>C (p.Leu112Pro)
c.269T>C (p.Leu90Pro)
n.461T>C
c.437T>C (p.Leu146Pro)
c.142T>C
c.288+153T>C (n.288+153T>C)
 ClinVar dbSNP
19g.41410969T>GCA406005706BCKDHAc.335T>G (p.Leu112Arg)
c.269T>G (p.Leu90Arg)
n.461T>G
c.437T>G (p.Leu146Arg)
c.142T>G
c.288+153T>G (n.288+153T>G)
19g.41410969T=CA2336453935BCKDHAc.335T= (p.Leu112=)
c.269T= (p.Leu90=)
n.461T=
c.437T= (p.Leu146=)
c.142T=
c.288+153T= (n.288+153T=)
19g.41410970T>ACA507555663BCKDHAc.336T>A (p.Leu112=)
c.270T>A (p.Leu90=)
n.462T>A
c.438T>A (p.Leu146=)
c.143T>A
c.288+154T>A (n.288+154T>A)
 ClinVar dbSNP
19g.41410970T>CCA507555664BCKDHAc.336T>C (p.Leu112=)
c.270T>C (p.Leu90=)
n.462T>C
c.438T>C (p.Leu146=)
c.143T>C
c.288+154T>C (n.288+154T>C)
19g.41410970T>GCA9461089BCKDHAc.336T>G (p.Leu112=)
c.270T>G (p.Leu90=)
n.462T>G
c.438T>G (p.Leu146=)
c.143T>G
c.288+154T>G (n.288+154T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410970T=CA2336453936BCKDHAc.336T= (p.Leu112=)
c.270T= (p.Leu90=)
n.462T=
c.438T= (p.Leu146=)
c.143T=
c.288+154T= (n.288+154T=)
19g.41410971A>CCA406005723BCKDHAc.337A>C (p.Asn113His)
c.271A>C (p.Asn91His)
n.463A>C
c.439A>C (p.Asn147His)
c.144A>C
c.288+155A>C (n.288+155A>C)
19g.41410971A>GCA406005715BCKDHAc.337A>G (p.Asn113Asp)
c.271A>G (p.Asn91Asp)
n.463A>G
c.439A>G (p.Asn147Asp)
c.144A>G
c.288+155A>G (n.288+155A>G)
19g.41410971A>TCA406005718BCKDHAc.337A>T (p.Asn113Tyr)
c.271A>T (p.Asn91Tyr)
n.463A>T
c.439A>T (p.Asn147Tyr)
c.144A>T
c.288+155A>T (n.288+155A>T)
19g.41410972A>CCA406005727BCKDHAc.338A>C (p.Asn113Thr)
c.272A>C (p.Asn91Thr)
n.464A>C
c.440A>C (p.Asn147Thr)
c.145A>C
c.288+156A>C (n.288+156A>C)
19g.41410972A>GCA406005731BCKDHAc.338A>G (p.Asn113Ser)
c.272A>G (p.Asn91Ser)
n.464A>G
c.440A>G (p.Asn147Ser)
c.145A>G
c.288+156A>G (n.288+156A>G)
19g.41410972A>TCA406005736BCKDHAc.338A>T (p.Asn113Ile)
c.272A>T (p.Asn91Ile)
n.464A>T
c.440A>T (p.Asn147Ile)
c.145A>T
c.288+156A>T (n.288+156A>T)
19g.41410973C>ACA406005752BCKDHAc.339C>A (p.Asn113Lys)
c.273C>A (p.Asn91Lys)
n.465C>A
c.441C>A (p.Asn147Lys)
c.146C>A
c.288+157C>A (n.288+157C>A)
19g.41410973C=CA2336453937BCKDHAc.339C= (p.Asn113=)
c.273C= (p.Asn91=)
n.465C=
c.441C= (p.Asn147=)
c.146C=
c.288+157C= (n.288+157C=)
19g.41410973C>GCA406005744BCKDHAc.339C>G (p.Asn113Lys)
c.273C>G (p.Asn91Lys)
n.465C>G
c.441C>G (p.Asn147Lys)
c.146C>G
c.288+157C>G (n.288+157C>G)
19g.41410973C>TCA9461090BCKDHAc.339C>T (p.Asn113=)
c.273C>T (p.Asn91=)
n.465C>T
c.441C>T (p.Asn147=)
c.146C>T
c.288+157C>T (n.288+157C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410974A>CCA406005756BCKDHAc.340A>C (p.Thr114Pro)
c.274A>C (p.Thr92Pro)
n.466A>C
c.442A>C (p.Thr148Pro)
c.147A>C
c.288+158A>C (n.288+158A>C)
19g.41410974A>GCA406005760BCKDHAc.340A>G (p.Thr114Ala)
c.274A>G (p.Thr92Ala)
n.466A>G
c.442A>G (p.Thr148Ala)
c.147A>G
c.288+158A>G (n.288+158A>G)
19g.41410974A>TCA406005761BCKDHAc.340A>T (p.Thr114Ser)
c.274A>T (p.Thr92Ser)
n.466A>T
c.442A>T (p.Thr148Ser)
c.147A>T
c.288+158A>T (n.288+158A>T)
19g.41410975C>ACA406005763BCKDHAc.341C>A (p.Thr114Asn)
c.275C>A (p.Thr92Asn)
n.467C>A
c.443C>A (p.Thr148Asn)
c.148C>A
c.288+159C>A (n.288+159C>A)
19g.41410975C=CA2336453938BCKDHAc.341C= (p.Thr114=)
c.275C= (p.Thr92=)
n.467C=
c.443C= (p.Thr148=)
c.148C=
c.288+159C= (n.288+159C=)
19g.41410975C>GCA9461091BCKDHAc.341C>G (p.Thr114Ser)
c.275C>G (p.Thr92Ser)
n.467C>G
c.443C>G (p.Thr148Ser)
c.148C>G
c.288+159C>G (n.288+159C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410975C>TCA406005767BCKDHAc.341C>T (p.Thr114Ile)
c.275C>T (p.Thr92Ile)
n.467C>T
c.443C>T (p.Thr148Ile)
c.148C>T
c.288+159C>T (n.288+159C>T)
19g.41410976C>ACA507555683BCKDHAc.342C>A (p.Thr114=)
c.276C>A (p.Thr92=)
n.468C>A
c.444C>A (p.Thr148=)
c.149C>A
c.288+160C>A (n.288+160C>A)
19g.41410976C>GCA507555684BCKDHAc.342C>G (p.Thr114=)
c.276C>G (p.Thr92=)
n.468C>G
c.444C>G (p.Thr148=)
c.149C>G
c.288+160C>G (n.288+160C>G)
19g.41410976C>TCA507555685BCKDHAc.342C>T (p.Thr114=)
c.276C>T (p.Thr92=)
n.468C>T
c.444C>T (p.Thr148=)
c.149C>T
c.288+160C>T (n.288+160C>T)
 ClinVar
19g.41410977A>CCA406005768BCKDHAc.343A>C (p.Met115Leu)
c.277A>C (p.Met93Leu)
n.469A>C
c.445A>C (p.Met149Leu)
c.150A>C
c.288+161A>C (n.288+161A>C)
19g.41410977A>GCA406005773BCKDHAc.343A>G (p.Met115Val)
c.277A>G (p.Met93Val)
n.469A>G
c.445A>G (p.Met149Val)
c.150A>G
c.288+161A>G (n.288+161A>G)
19g.41410977A>TCA406005771BCKDHAc.343A>T (p.Met115Leu)
c.277A>T (p.Met93Leu)
n.469A>T
c.445A>T (p.Met149Leu)
c.150A>T
c.288+161A>T (n.288+161A>T)
19g.41410978T>ACA406005776BCKDHAc.344T>A (p.Met115Lys)
c.278T>A (p.Met93Lys)
n.470T>A
c.446T>A (p.Met149Lys)
c.151T>A
c.288+162T>A (n.288+162T>A)
19g.41410978T>CCA406005779BCKDHAc.344T>C (p.Met115Thr)
c.278T>C (p.Met93Thr)
n.470T>C
c.446T>C (p.Met149Thr)
c.151T>C
c.288+162T>C (n.288+162T>C)
19g.41410978T>GCA406005783BCKDHAc.344T>G (p.Met115Arg)
c.278T>G (p.Met93Arg)
n.470T>G
c.446T>G (p.Met149Arg)
c.151T>G
c.288+162T>G (n.288+162T>G)
19g.41410979G>ACA406005786BCKDHAc.345G>A (p.Met115Ile)
c.279G>A (p.Met93Ile)
n.471G>A
c.447G>A (p.Met149Ile)
c.152G>A
c.288+163G>A (n.288+163G>A)
19g.41410979G>CCA406005790BCKDHAc.345G>C (p.Met115Ile)
c.279G>C (p.Met93Ile)
n.471G>C
c.447G>C (p.Met149Ile)
c.152G>C
c.288+163G>C (n.288+163G>C)
19g.41410979G>TCA406005794BCKDHAc.345G>T (p.Met115Ile)
c.279G>T (p.Met93Ile)
n.471G>T
c.447G>T (p.Met149Ile)
c.152G>T
c.288+163G>T (n.288+163G>T)
19g.41410979_41410980delinsAACA645614572BCKDHAc.345_346delinsAA (p.Met115_Asp116delinsIleAsn)
c.279_280delinsAA (p.Met93_Asp94delinsIleAsn)
n.471_472delinsAA
c.447_448delinsAA (p.Met149_Asp150delinsIleAsn)
c.152_153delinsAA
c.288+163_288+164delinsAA (n.288+163_288+164delinsAA)
 COSMIC
19g.41410980G>ACA406005800BCKDHAc.346G>A (p.Asp116Asn)
c.280G>A (p.Asp94Asn)
n.472G>A
c.448G>A (p.Asp150Asn)
c.153G>A
c.288+164G>A (n.288+164G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41410980G>CCA406005802BCKDHAc.346G>C (p.Asp116His)
c.280G>C (p.Asp94His)
n.472G>C
c.448G>C (p.Asp150His)
c.153G>C
c.288+164G>C (n.288+164G>C)
19g.41410980G=CA2336453939BCKDHAc.346G= (p.Asp116=)
c.280G= (p.Asp94=)
n.472G=
c.448G= (p.Asp150=)
c.153G=
c.288+164G= (n.288+164G=)
19g.41410980G>TCA406005810BCKDHAc.346G>T (p.Asp116Tyr)
c.280G>T (p.Asp94Tyr)
n.472G>T
c.448G>T (p.Asp150Tyr)
c.153G>T
c.288+164G>T (n.288+164G>T)
19g.41410981A=CA2336453940BCKDHAc.347A= (p.Asp116=)
c.281A= (p.Asp94=)
n.473A=
c.449A= (p.Asp150=)
c.154A=
c.288+165A= (n.288+165A=)
19g.41410981A>CCA406005814BCKDHAc.347A>C (p.Asp116Ala)
c.281A>C (p.Asp94Ala)
n.473A>C
c.449A>C (p.Asp150Ala)
c.154A>C
c.288+165A>C (n.288+165A>C)
19g.41410981A>GCA221196BCKDHAc.347A>G (p.Asp116Gly)
c.281A>G (p.Asp94Gly)
n.473A>G
c.449A>G (p.Asp150Gly)
c.154A>G
c.288+165A>G (n.288+165A>G)
 ClinVar dbSNP
19g.41410981A>TCA406005822BCKDHAc.347A>T (p.Asp116Val)
c.281A>T (p.Asp94Val)
n.473A>T
c.449A>T (p.Asp150Val)
c.154A>T
c.288+165A>T (n.288+165A>T)
19g.41410982C>ACA406005826BCKDHAc.348C>A (p.Asp116Glu)
c.282C>A (p.Asp94Glu)
n.474C>A
c.450C>A (p.Asp150Glu)
c.155C>A
c.288+166C>A (n.288+166C>A)
19g.41410982C>GCA406005831BCKDHAc.348C>G (p.Asp116Glu)
c.282C>G (p.Asp94Glu)
n.474C>G
c.450C>G (p.Asp150Glu)
c.155C>G
c.288+166C>G (n.288+166C>G)
19g.41410982C>TCA507555706BCKDHAc.348C>T (p.Asp116=)
c.282C>T (p.Asp94=)
n.474C>T
c.450C>T (p.Asp150=)
c.155C>T
c.288+166C>T (n.288+166C>T)
 ClinVar dbSNP
19g.41410983C>ACA406005838BCKDHAc.349C>A (p.Arg117Ser)
c.283C>A (p.Arg95Ser)
n.475C>A
c.451C>A (p.Arg151Ser)
c.156C>A
c.288+167C>A (n.288+167C>A)
19g.41410983C=CA2336453941BCKDHAc.349C= (p.Arg117=)
c.283C= (p.Arg95=)
n.475C=
c.451C= (p.Arg151=)
c.156C=
c.288+167C= (n.288+167C=)
19g.41410983C>GCA406005841BCKDHAc.349C>G (p.Arg117Gly)
c.283C>G (p.Arg95Gly)
n.475C>G
c.451C>G (p.Arg151Gly)
c.156C>G
c.288+167C>G (n.288+167C>G)
19g.41410983C>TCA9461092BCKDHAc.349C>T (p.Arg117Cys)
c.283C>T (p.Arg95Cys)
n.475C>T
c.451C>T (p.Arg151Cys)
c.156C>T
c.288+167C>T (n.288+167C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410984G>ACA9461093BCKDHAc.350G>A (p.Arg117His)
c.284G>A (p.Arg95His)
n.476G>A
c.452G>A (p.Arg151His)
c.157G>A
c.288+168G>A (n.288+168G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410984G>CCA406005852BCKDHAc.350G>C (p.Arg117Pro)
c.284G>C (p.Arg95Pro)
n.476G>C
c.452G>C (p.Arg151Pro)
c.157G>C
c.288+168G>C (n.288+168G>C)
19g.41410984G=CA2336453942BCKDHAc.350G= (p.Arg117=)
c.284G= (p.Arg95=)
n.476G=
c.452G= (p.Arg151=)
c.157G=
c.288+168G= (n.288+168G=)
19g.41410984G>TCA9461094BCKDHAc.350G>T (p.Arg117Leu)
c.284G>T (p.Arg95Leu)
n.476G>T
c.452G>T (p.Arg151Leu)
c.157G>T
c.288+168G>T (n.288+168G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410985C>ACA507555715BCKDHAc.351C>A (p.Arg117=)
c.285C>A (p.Arg95=)
n.477C>A
c.453C>A (p.Arg151=)
c.158C>A
c.288+169C>A (n.288+169C>A)
19g.41410985C=CA2336453943BCKDHAc.351C= (p.Arg117=)
c.285C= (p.Arg95=)
n.477C=
c.453C= (p.Arg151=)
c.158C=
c.288+169C= (n.288+169C=)
19g.41410985C>GCA507555720BCKDHAc.351C>G (p.Arg117=)
c.285C>G (p.Arg95=)
n.477C>G
c.453C>G (p.Arg151=)
c.158C>G
c.288+169C>G (n.288+169C>G)
19g.41410985C>TCA9461095BCKDHAc.351C>T (p.Arg117=)
c.285C>T (p.Arg95=)
n.477C>T
c.453C>T (p.Arg151=)
c.158C>T
c.288+169C>T (n.288+169C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410986A>CCA406005861BCKDHAc.352A>C (p.Ile118Leu)
c.286A>C (p.Ile96Leu)
n.478A>C
c.454A>C (p.Ile152Leu)
c.159A>C
c.288+170A>C (n.288+170A>C)
19g.41410986A>GCA406005868BCKDHAc.352A>G (p.Ile118Val)
c.286A>G (p.Ile96Val)
n.478A>G
c.454A>G (p.Ile152Val)
c.159A>G
c.288+170A>G (n.288+170A>G)
19g.41410986A>TCA406005864BCKDHAc.352A>T (p.Ile118Phe)
c.286A>T (p.Ile96Phe)
n.478A>T
c.454A>T (p.Ile152Phe)
c.159A>T
c.288+170A>T (n.288+170A>T)
19g.41410987T>ACA406005874BCKDHAc.353T>A (p.Ile118Asn)
c.287T>A (p.Ile96Asn)
n.479T>A
c.455T>A (p.Ile152Asn)
c.160T>A
c.288+171T>A (n.288+171T>A)
 gnomAD v4
19g.41410987T>CCA406005878BCKDHAc.353T>C (p.Ile118Thr)
c.287T>C (p.Ile96Thr)
n.479T>C
c.455T>C (p.Ile152Thr)
c.160T>C
c.288+171T>C (n.288+171T>C)
 gnomAD v4
19g.41410987T>GCA406005881BCKDHAc.353T>G (p.Ile118Ser)
c.287T>G (p.Ile96Ser)
n.479T>G
c.455T>G (p.Ile152Ser)
c.160T>G
c.288+171T>G (n.288+171T>G)
19g.41410988C>ACA507555740BCKDHAc.354C>A (p.Ile118=)
c.288C>A (p.Ile96=)
n.480C>A
c.456C>A (p.Ile152=)
c.161C>A
c.288+172C>A (n.288+172C>A)
19g.41410988C=CA2336453944BCKDHAc.354C= (p.Ile118=)
c.288C= (p.Ile96=)
n.480C=
c.456C= (p.Ile152=)
c.161C=
c.288+172C= (n.288+172C=)
19g.41410988C>GCA406005884BCKDHAc.354C>G (p.Ile118Met)
c.288C>G (p.Ile96Met)
n.480C>G
c.456C>G (p.Ile152Met)
c.161C>G
c.288+172C>G (n.288+172C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41410988C>TCA507555742BCKDHAc.354C>T (p.Ile118=)
c.288C>T (p.Ile96=)
n.480C>T
c.456C>T (p.Ile152=)
c.161C>T
c.288+172C>T (n.288+172C>T)
19g.41410989C>ACA406005889BCKDHAc.355C>A (p.Leu119Ile)
c.289C>A (p.Leu97Ile)
n.481C>A
c.457C>A (p.Leu153Ile)
c.162C>A
c.288+173C>A (n.288+173C>A)
19g.41410989C=CA2336453945BCKDHAc.355C= (p.Leu119=)
c.289C= (p.Leu97=)
n.481C=
c.457C= (p.Leu153=)
c.162C=
c.288+173C= (n.288+173C=)
19g.41410989C>GCA406005899BCKDHAc.355C>G (p.Leu119Val)
c.289C>G (p.Leu97Val)
n.481C>G
c.457C>G (p.Leu153Val)
c.162C>G
c.288+173C>G (n.288+173C>G)
19g.41410989C>TCA308515748BCKDHAc.355C>T (p.Leu119Phe)
c.289C>T (p.Leu97Phe)
n.481C>T
c.457C>T (p.Leu153Phe)
c.162C>T
c.288+173C>T (n.288+173C>T)
 dbSNP gnomAD v4
19g.41410991_41410992delCA2580614905BCKDHAc.357_358del (p.Tyr120Ter)
c.291_292del (p.Tyr98Ter)
n.483_484del
c.459_460del (p.Tyr154Ter)
c.164_165del
c.288+175_288+176del (n.288+175_288+176del)
 ClinVar dbSNP
19g.41410990T>ACA406005902BCKDHAc.356T>A (p.Leu119His)
c.290T>A (p.Leu97His)
n.482T>A
c.458T>A (p.Leu153His)
c.163T>A
c.288+174T>A (n.288+174T>A)
19g.41410990T>CCA406005938BCKDHAc.356T>C (p.Leu119Pro)
c.290T>C (p.Leu97Pro)
n.482T>C
c.458T>C (p.Leu153Pro)
c.163T>C
c.288+174T>C (n.288+174T>C)
19g.41410990T>GCA406005942BCKDHAc.356T>G (p.Leu119Arg)
c.290T>G (p.Leu97Arg)
n.482T>G
c.458T>G (p.Leu153Arg)
c.163T>G
c.288+174T>G (n.288+174T>G)
19g.41410991C>ACA507555751BCKDHAc.357C>A (p.Leu119=)
c.291C>A (p.Leu97=)
n.483C>A
c.459C>A (p.Leu153=)
c.164C>A
c.288+175C>A (n.288+175C>A)
19g.41410991C=CA2336453946BCKDHAc.357C= (p.Leu119=)
c.291C= (p.Leu97=)
n.483C=
c.459C= (p.Leu153=)
c.164C=
c.288+175C= (n.288+175C=)
19g.41410991C>GCA507555754BCKDHAc.357C>G (p.Leu119=)
c.291C>G (p.Leu97=)
n.483C>G
c.459C>G (p.Leu153=)
c.164C>G
c.288+175C>G (n.288+175C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41410991C>TCA507555755BCKDHAc.357C>T (p.Leu119=)
c.291C>T (p.Leu97=)
n.483C>T
c.459C>T (p.Leu153=)
c.164C>T
c.288+175C>T (n.288+175C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410992T>ACA406005947BCKDHAc.358T>A (p.Tyr120Asn)
c.292T>A (p.Tyr98Asn)
n.484T>A
c.460T>A (p.Tyr154Asn)
c.165T>A
c.288+176T>A (n.288+176T>A)
19g.41410992T>CCA406005951BCKDHAc.358T>C (p.Tyr120His)
c.292T>C (p.Tyr98His)
n.484T>C
c.460T>C (p.Tyr154His)
c.165T>C
c.288+176T>C (n.288+176T>C)
 dbSNP
19g.41410992T>GCA406005954BCKDHAc.358T>G (p.Tyr120Asp)
c.292T>G (p.Tyr98Asp)
n.484T>G
c.460T>G (p.Tyr154Asp)
c.165T>G
c.288+176T>G (n.288+176T>G)
19g.41410993_41410994delCA2735979435BCKDHAc.359_360del (p.Tyr120Ter)
c.293_294del (p.Tyr98Ter)
n.485_486del
c.461_462del (p.Tyr154Ter)
c.166_167del
c.288+177_288+178del (n.288+177_288+178del)
 dbSNP
19g.41410993A=CA2336453947BCKDHAc.359A= (p.Tyr120=)
c.293A= (p.Tyr98=)
n.485A=
c.461A= (p.Tyr154=)
c.166A=
c.288+177A= (n.288+177A=)
19g.41410993A>CCA406005958BCKDHAc.359A>C (p.Tyr120Ser)
c.293A>C (p.Tyr98Ser)
n.485A>C
c.461A>C (p.Tyr154Ser)
c.166A>C
c.288+177A>C (n.288+177A>C)
19g.41410993A>GCA9461096BCKDHAc.359A>G (p.Tyr120Cys)
c.293A>G (p.Tyr98Cys)
n.485A>G
c.461A>G (p.Tyr154Cys)
c.166A>G
c.288+177A>G (n.288+177A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410993A>TCA406005966BCKDHAc.359A>T (p.Tyr120Phe)
c.293A>T (p.Tyr98Phe)
n.485A>T
c.461A>T (p.Tyr154Phe)
c.166A>T
c.288+177A>T (n.288+177A>T)
19g.41410994T>ACA406005971BCKDHAc.360T>A (p.Tyr120Ter)
c.294T>A (p.Tyr98Ter)
n.486T>A
c.462T>A (p.Tyr154Ter)
c.167T>A
c.288+178T>A (n.288+178T>A)
19g.41410994T>CCA507555765BCKDHAc.360T>C (p.Tyr120=)
c.294T>C (p.Tyr98=)
n.486T>C
c.462T>C (p.Tyr154=)
c.167T>C
c.288+178T>C (n.288+178T>C)
19g.41410994T>GCA406005974BCKDHAc.360T>G (p.Tyr120Ter)
c.294T>G (p.Tyr98Ter)
n.486T>G
c.462T>G (p.Tyr154Ter)
c.167T>G
c.288+178T>G (n.288+178T>G)
19g.41410995G>ACA406005979BCKDHAc.361G>A (p.Glu121Lys)
c.295G>A (p.Glu99Lys)
n.487G>A
c.463G>A (p.Glu155Lys)
c.168G>A
c.288+179G>A (n.288+179G>A)
 dbSNP gnomAD v4
19g.41410995G>CCA406005989BCKDHAc.361G>C (p.Glu121Gln)
c.295G>C (p.Glu99Gln)
n.487G>C
c.463G>C (p.Glu155Gln)
c.168G>C
c.288+179G>C (n.288+179G>C)
19g.41410995G=CA2336453948BCKDHAc.361G= (p.Glu121=)
c.295G= (p.Glu99=)
n.487G=
c.463G= (p.Glu155=)
c.168G=
c.288+179G= (n.288+179G=)
19g.41410995G>TCA406005986BCKDHAc.361G>T (p.Glu121Ter)
c.295G>T (p.Glu99Ter)
n.487G>T
c.463G>T (p.Glu155Ter)
c.168G>T
c.288+179G>T (n.288+179G>T)
19g.41410996A>CCA406005993BCKDHAc.362A>C (p.Glu121Ala)
c.296A>C (p.Glu99Ala)
n.488A>C
c.464A>C (p.Glu155Ala)
c.169A>C
c.288+180A>C (n.288+180A>C)
19g.41410996A>GCA406006008BCKDHAc.362A>G (p.Glu121Gly)
c.296A>G (p.Glu99Gly)
n.488A>G
c.464A>G (p.Glu155Gly)
c.169A>G
c.288+180A>G (n.288+180A>G)
19g.41410996A>TCA406006004BCKDHAc.362A>T (p.Glu121Val)
c.296A>T (p.Glu99Val)
n.488A>T
c.464A>T (p.Glu155Val)
c.169A>T
c.288+180A>T (n.288+180A>T)
19g.41410997G>ACA507555774BCKDHAc.363G>A (p.Glu121=)
c.297G>A (p.Glu99=)
n.489G>A
c.465G>A (p.Glu155=)
c.170G>A
c.288+181G>A (n.288+181G>A)
19g.41410997G>CCA406006014BCKDHAc.363G>C (p.Glu121Asp)
c.297G>C (p.Glu99Asp)
n.489G>C
c.465G>C (p.Glu155Asp)
c.170G>C
c.288+181G>C (n.288+181G>C)
19g.41410997G>TCA406006017BCKDHAc.363G>T (p.Glu121Asp)
c.297G>T (p.Glu99Asp)
n.489G>T
c.465G>T (p.Glu155Asp)
c.170G>T
c.288+181G>T (n.288+181G>T)
19g.41410998T>ACA406006022BCKDHAc.364T>A (p.Ser122Thr)
c.298T>A (p.Ser100Thr)
n.490T>A
c.466T>A (p.Ser156Thr)
c.171T>A
c.288+182T>A (n.288+182T>A)
19g.41410998T>CCA406006025BCKDHAc.364T>C (p.Ser122Pro)
c.298T>C (p.Ser100Pro)
n.490T>C
c.466T>C (p.Ser156Pro)
c.171T>C
c.288+182T>C (n.288+182T>C)
19g.41410998T>GCA406006034BCKDHAc.364T>G (p.Ser122Ala)
c.298T>G (p.Ser100Ala)
n.490T>G
c.466T>G (p.Ser156Ala)
c.171T>G
c.288+182T>G (n.288+182T>G)
19g.41410999C>ACA406006036BCKDHAc.365C>A (p.Ser122Tyr)
c.299C>A (p.Ser100Tyr)
n.491C>A
c.467C>A (p.Ser156Tyr)
c.172C>A
c.288+183C>A (n.288+183C>A)
19g.41410999C=CA2336453949BCKDHAc.365C= (p.Ser122=)
c.299C= (p.Ser100=)
n.491C=
c.467C= (p.Ser156=)
c.172C=
c.288+183C= (n.288+183C=)
19g.41410999C>GCA406006037BCKDHAc.365C>G (p.Ser122Cys)
c.299C>G (p.Ser100Cys)
n.491C>G
c.467C>G (p.Ser156Cys)
c.172C>G
c.288+183C>G (n.288+183C>G)
19g.41410999C>TCA406006038BCKDHAc.365C>T (p.Ser122Phe)
c.299C>T (p.Ser100Phe)
n.491C>T
c.467C>T (p.Ser156Phe)
c.172C>T
c.288+183C>T (n.288+183C>T)
 dbSNP gnomAD v4
19g.41411000T>ACA507555786BCKDHAc.366T>A (p.Ser122=)
c.300T>A (p.Ser100=)
n.492T>A
c.468T>A (p.Ser156=)
c.173T>A
c.288+184T>A (n.288+184T>A)
19g.41411000T>CCA507555787BCKDHAc.366T>C (p.Ser122=)
c.300T>C (p.Ser100=)
n.492T>C
c.468T>C (p.Ser156=)
c.173T>C
c.288+184T>C (n.288+184T>C)
19g.41411000T>GCA507555790BCKDHAc.366T>G (p.Ser122=)
c.300T>G (p.Ser100=)
n.492T>G
c.468T>G (p.Ser156=)
c.173T>G
c.288+184T>G (n.288+184T>G)
19g.41411001C>ACA406006042BCKDHAc.367C>A (p.Gln123Lys)
c.301C>A (p.Gln101Lys)
n.493C>A
c.469C>A (p.Gln157Lys)
c.174C>A
c.288+185C>A (n.288+185C>A)
19g.41411001C=CA2336453950BCKDHAc.367C= (p.Gln123=)
c.301C= (p.Gln101=)
n.493C=
c.469C= (p.Gln157=)
c.174C=
c.288+185C= (n.288+185C=)
19g.41411001C>GCA406006044BCKDHAc.367C>G (p.Gln123Glu)
c.301C>G (p.Gln101Glu)
n.493C>G
c.469C>G (p.Gln157Glu)
c.174C>G
c.288+185C>G (n.288+185C>G)
19g.41411001C>TCA406006048BCKDHAc.367C>T (p.Gln123Ter)
c.301C>T (p.Gln101Ter)
n.493C>T
c.469C>T (p.Gln157Ter)
c.174C>T
c.288+185C>T (n.288+185C>T)
 ClinVar dbSNP gnomAD v4
19g.41411002A>CCA406006069BCKDHAc.368A>C (p.Gln123Pro)
c.302A>C (p.Gln101Pro)
n.494A>C
c.470A>C (p.Gln157Pro)
c.175A>C
c.288+186A>C (n.288+186A>C)
 gnomAD v4
19g.41411002A>GCA406006054BCKDHAc.368A>G (p.Gln123Arg)
c.302A>G (p.Gln101Arg)
n.494A>G
c.470A>G (p.Gln157Arg)
c.175A>G
c.288+186A>G (n.288+186A>G)
19g.41411002A>TCA406006059BCKDHAc.368A>T (p.Gln123Leu)
c.302A>T (p.Gln101Leu)
n.494A>T
c.470A>T (p.Gln157Leu)
c.175A>T
c.288+186A>T (n.288+186A>T)
19g.41411003G>ACA507555815BCKDHAc.369G>A (p.Gln123=)
c.303G>A (p.Gln101=)
n.495G>A
c.471G>A (p.Gln157=)
c.176G>A
c.288+187G>A (n.288+187G>A)
19g.41411003G>CCA406006075BCKDHAc.369G>C (p.Gln123His)
c.303G>C (p.Gln101His)
n.495G>C
c.471G>C (p.Gln157His)
c.176G>C
c.288+187G>C (n.288+187G>C)
19g.41411003G>TCA406006079BCKDHAc.369G>T (p.Gln123His)
c.303G>T (p.Gln101His)
n.495G>T
c.471G>T (p.Gln157His)
c.176G>T
c.288+187G>T (n.288+187G>T)
19g.41411004C>ACA507555818BCKDHAc.370C>A (p.Arg124=)
c.304C>A (p.Arg102=)
n.496C>A
c.472C>A (p.Arg158=)
c.177C>A
c.288+188C>A (n.288+188C>A)
19g.41411004C=CA2336453951BCKDHAc.370C= (p.Arg124=)
c.304C= (p.Arg102=)
n.496C=
c.472C= (p.Arg158=)
c.177C=
c.288+188C= (n.288+188C=)
19g.41411004C>GCA406006082BCKDHAc.370C>G (p.Arg124Gly)
c.304C>G (p.Arg102Gly)
n.496C>G
c.472C>G (p.Arg158Gly)
c.177C>G
c.288+188C>G (n.288+188C>G)
19g.41411004C>TCA221198BCKDHAc.370C>T (p.Arg124Trp)
c.304C>T (p.Arg102Trp)
n.496C>T
c.472C>T (p.Arg158Trp)
c.177C>T
c.288+188C>T (n.288+188C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411005G>ACA9461097BCKDHAc.371G>A (p.Arg124Gln)
c.305G>A (p.Arg102Gln)
n.497G>A
c.473G>A (p.Arg158Gln)
c.178G>A
c.288+189G>A (n.288+189G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41411005G>CCA406006091BCKDHAc.371G>C (p.Arg124Pro)
c.305G>C (p.Arg102Pro)
n.497G>C
c.473G>C (p.Arg158Pro)
c.178G>C
c.288+189G>C (n.288+189G>C)
 ClinVar dbSNP
19g.41411005G=CA2336453952BCKDHAc.371G= (p.Arg124=)
c.305G= (p.Arg102=)
n.497G=
c.473G= (p.Arg158=)
c.178G=
c.288+189G= (n.288+189G=)
19g.41411005G>TCA406006096BCKDHAc.371G>T (p.Arg124Leu)
c.305G>T (p.Arg102Leu)
n.497G>T
c.473G>T (p.Arg158Leu)
c.178G>T
c.288+189G>T (n.288+189G>T)
19g.41411006G>ACA507555825BCKDHAc.372G>A (p.Arg124=)
c.306G>A (p.Arg102=)
n.498G>A
c.474G>A (p.Arg158=)
c.179G>A
c.288+190G>A (n.288+190G>A)
19g.41411006G>CCA507555827BCKDHAc.372G>C (p.Arg124=)
c.306G>C (p.Arg102=)
n.498G>C
c.474G>C (p.Arg158=)
c.179G>C
c.288+190G>C (n.288+190G>C)
19g.41411006G>TCA507555829BCKDHAc.372G>T (p.Arg124=)
c.306G>T (p.Arg102=)
n.498G>T
c.474G>T (p.Arg158=)
c.179G>T
c.288+190G>T (n.288+190G>T)
19g.41411007C>ACA406006103BCKDHAc.373C>A (p.Gln125Lys)
c.307C>A (p.Gln103Lys)
n.499C>A
c.475C>A (p.Gln159Lys)
c.180C>A
c.288+191C>A (n.288+191C>A)
19g.41411007C=CA2336453953BCKDHAc.373C= (p.Gln125=)
c.307C= (p.Gln103=)
n.499C=
c.475C= (p.Gln159=)
c.180C=
c.288+191C= (n.288+191C=)
19g.41411007C>GCA406006106BCKDHAc.373C>G (p.Gln125Glu)
c.307C>G (p.Gln103Glu)
n.499C>G
c.475C>G (p.Gln159Glu)
c.180C>G
c.288+191C>G (n.288+191C>G)
19g.41411007C>TCA406006111BCKDHAc.373C>T (p.Gln125Ter)
c.307C>T (p.Gln103Ter)
n.499C>T
c.475C>T (p.Gln159Ter)
c.180C>T
c.288+191C>T (n.288+191C>T)
19g.41411008A>CCA406006125BCKDHAc.374A>C (p.Gln125Pro)
c.308A>C (p.Gln103Pro)
n.500A>C
c.476A>C (p.Gln159Pro)
c.181A>C
c.288+192A>C (n.288+192A>C)
19g.41411008A>GCA406006129BCKDHAc.374A>G (p.Gln125Arg)
c.308A>G (p.Gln103Arg)
n.500A>G
c.476A>G (p.Gln159Arg)
c.181A>G
c.288+192A>G (n.288+192A>G)
19g.41411008A>TCA406006116BCKDHAc.374A>T (p.Gln125Leu)
c.308A>T (p.Gln103Leu)
n.500A>T
c.476A>T (p.Gln159Leu)
c.181A>T
c.288+192A>T (n.288+192A>T)
19g.41411011_41411030dupCA2336453954BCKDHAc.375+2_375+21dup
c.309+2_309+21dup
n.501+2_501+21dup
c.477+2_477+21dup
c.182+2_182+21dup
c.288+195_288+214dup (n.288+195_288+214dup)
 dbSNP
19g.41411009G>ACA507555837BCKDHAc.375G>A (p.Gln125=)
c.309G>A (p.Gln103=)
n.501G>A
c.477G>A (p.Gln159=)
c.182G>A
c.288+193G>A (n.288+193G>A)
19g.41411009G>CCA406006133BCKDHAc.375G>C (p.Gln125His)
c.309G>C (p.Gln103His)
n.501G>C
c.477G>C (p.Gln159His)
c.182G>C
c.288+193G>C (n.288+193G>C)
19g.41411009G>TCA406006136BCKDHAc.375G>T (p.Gln125His)
c.309G>T (p.Gln103His)
n.501G>T
c.477G>T (p.Gln159His)
c.182G>T
c.288+193G>T (n.288+193G>T)
19g.41411010G>ACA406006142BCKDHAc.375+1G>A (n.375+1G>A)
c.309+1G>A (n.309+1G>A)
n.501+1G>A
c.477+1G>A (n.477+1G>A)
c.182+1G>A
c.288+194G>A (n.288+194G>A)
 ClinVar gnomAD v4
19g.41411010G>CCA406006146BCKDHAc.375+1G>C (n.375+1G>C)
c.309+1G>C (n.309+1G>C)
n.501+1G>C
c.477+1G>C (n.477+1G>C)
c.182+1G>C
c.288+194G>C (n.288+194G>C)
19g.41411010G>TCA406006148BCKDHAc.375+1G>T (n.375+1G>T)
c.309+1G>T (n.309+1G>T)
n.501+1G>T
c.477+1G>T (n.477+1G>T)
c.182+1G>T
c.288+194G>T (n.288+194G>T)
19g.41411011T>ACA406006152BCKDHAc.375+2T>A (n.375+2T>A)
c.309+2T>A (n.309+2T>A)
n.501+2T>A
c.477+2T>A (n.477+2T>A)
c.182+2T>A
c.288+195T>A (n.288+195T>A)
19g.41411011T>CCA406006155BCKDHAc.375+2T>C (n.375+2T>C)
c.309+2T>C (n.309+2T>C)
n.501+2T>C
c.477+2T>C (n.477+2T>C)
c.182+2T>C
c.288+195T>C (n.288+195T>C)
19g.41411011T>GCA9461098BCKDHAc.375+2T>G (n.375+2T>G)
c.309+2T>G (n.309+2T>G)
n.501+2T>G
c.477+2T>G (n.477+2T>G)
c.182+2T>G
c.288+195T>G (n.288+195T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41411011T=CA2336453955BCKDHAc.375+2T= (n.375+2T=)
c.309+2T= (n.309+2T=)
n.501+2T=
c.477+2T= (n.477+2T=)
c.182+2T=
c.288+195T= (n.288+195T=)
19g.41411012G>ACA2585306839BCKDHAc.375+3G>A (n.375+3G>A)
c.309+3G>A (n.309+3G>A)
n.501+3G>A
c.477+3G>A (n.477+3G>A)
c.182+3G>A
c.288+196G>A (n.288+196G>A)
 gnomAD v4
19g.41411013C=CA2336453956BCKDHAc.375+4C= (n.375+4C=)
c.309+4C= (n.309+4C=)
n.501+4C=
c.477+4C= (n.477+4C=)
c.182+4C=
c.288+197C= (n.288+197C=)
19g.41411013C>TCA9461099BCKDHAc.375+4C>T (n.375+4C>T)
c.309+4C>T (n.309+4C>T)
n.501+4C>T
c.477+4C>T (n.477+4C>T)
c.182+4C>T
c.288+197C>T (n.288+197C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched