Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41414056T>ACA406007621BCKDHAc.383T>A (p.Ile128Asn)
c.317T>A (p.Ile106Asn)
n.509T>A
c.485T>A (p.Ile162Asn)
c.190T>A
c.296T>A (p.Ile99Asn)
19g.41414056T>CCA406007618BCKDHAc.383T>C (p.Ile128Thr)
c.317T>C (p.Ile106Thr)
n.509T>C
c.485T>C (p.Ile162Thr)
c.190T>C
c.296T>C (p.Ile99Thr)
19g.41414056T>GCA406007616BCKDHAc.383T>G (p.Ile128Ser)
c.317T>G (p.Ile106Ser)
n.509T>G
c.485T>G (p.Ile162Ser)
c.190T>G
c.296T>G (p.Ile99Ser)
19g.41414057C>ACA507557516BCKDHAc.384C>A (p.Ile128=)
c.318C>A (p.Ile106=)
n.510C>A
c.486C>A (p.Ile162=)
c.191C>A
c.297C>A (p.Ile99=)
 dbSNP gnomAD v2 gnomAD v4
19g.41414057C=CA2336455318BCKDHAc.384C= (p.Ile128=)
c.318C= (p.Ile106=)
n.510C=
c.486C= (p.Ile162=)
c.191C=
c.297C= (p.Ile99=)
19g.41414057C>GCA406007626BCKDHAc.384C>G (p.Ile128Met)
c.318C>G (p.Ile106Met)
n.510C>G
c.486C>G (p.Ile162Met)
c.191C>G
c.297C>G (p.Ile99Met)
19g.41414057C>TCA507557511BCKDHAc.384C>T (p.Ile128=)
c.318C>T (p.Ile106=)
n.510C>T
c.486C>T (p.Ile162=)
c.191C>T
c.297C>T (p.Ile99=)
 dbSNP
19g.41414058T>ACA406007637BCKDHAc.385T>A (p.Ser129Thr)
c.319T>A (p.Ser107Thr)
n.511T>A
c.487T>A (p.Ser163Thr)
c.192T>A
c.298T>A (p.Ser100Thr)
 gnomAD v4
19g.41414058T>CCA406007630BCKDHAc.385T>C (p.Ser129Pro)
c.319T>C (p.Ser107Pro)
n.511T>C
c.487T>C (p.Ser163Pro)
c.192T>C
c.298T>C (p.Ser100Pro)
19g.41414058T>GCA406007633BCKDHAc.385T>G (p.Ser129Ala)
c.319T>G (p.Ser107Ala)
n.511T>G
c.487T>G (p.Ser163Ala)
c.192T>G
c.298T>G (p.Ser100Ala)
19g.41414059C>ACA406007641BCKDHAc.386C>A (p.Ser129Tyr)
c.320C>A (p.Ser107Tyr)
n.512C>A
c.488C>A (p.Ser163Tyr)
c.193C>A
c.299C>A (p.Ser100Tyr)
19g.41414059C=CA2336455319BCKDHAc.386C= (p.Ser129=)
c.320C= (p.Ser107=)
n.512C=
c.488C= (p.Ser163=)
c.193C=
c.299C= (p.Ser100=)
19g.41414059C>GCA406007643BCKDHAc.386C>G (p.Ser129Cys)
c.320C>G (p.Ser107Cys)
n.512C>G
c.488C>G (p.Ser163Cys)
c.193C>G
c.299C>G (p.Ser100Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41414059C>TCA406007648BCKDHAc.386C>T (p.Ser129Phe)
c.320C>T (p.Ser107Phe)
n.512C>T
c.488C>T (p.Ser163Phe)
c.193C>T
c.299C>T (p.Ser100Phe)
19g.41414060C>ACA507557539BCKDHAc.387C>A (p.Ser129=)
c.321C>A (p.Ser107=)
n.513C>A
c.489C>A (p.Ser163=)
c.194C>A
c.300C>A (p.Ser100=)
19g.41414060C>GCA507557541BCKDHAc.387C>G (p.Ser129=)
c.321C>G (p.Ser107=)
n.513C>G
c.489C>G (p.Ser163=)
c.194C>G
c.300C>G (p.Ser100=)
19g.41414060C>TCA507557543BCKDHAc.387C>T (p.Ser129=)
c.321C>T (p.Ser107=)
n.513C>T
c.489C>T (p.Ser163=)
c.194C>T
c.300C>T (p.Ser100=)
 ClinVar COSMIC
19g.41414062_41414064delCA2576793787BCKDHAc.389_391del (p.Phe130del)
c.323_325del (p.Phe108del)
n.515_517del
c.491_493del (p.Phe164del)
c.196_198del
c.302_304del (p.Phe101del)
19g.41414061T>ACA406007652BCKDHAc.388T>A (p.Phe130Ile)
c.322T>A (p.Phe108Ile)
n.514T>A
c.490T>A (p.Phe164Ile)
c.195T>A
c.301T>A (p.Phe101Ile)
19g.41414061T>CCA406007655BCKDHAc.388T>C (p.Phe130Leu)
c.322T>C (p.Phe108Leu)
n.514T>C
c.490T>C (p.Phe164Leu)
c.195T>C
c.301T>C (p.Phe101Leu)
19g.41414061T>GCA406007658BCKDHAc.388T>G (p.Phe130Val)
c.322T>G (p.Phe108Val)
n.514T>G
c.490T>G (p.Phe164Val)
c.195T>G
c.301T>G (p.Phe101Val)
19g.41414062delCA2576793788BCKDHAc.389del (p.Phe130SerfsTer3)
c.323del (p.Phe108SerfsTer3)
n.515del
c.491del (p.Phe164SerfsTer3)
c.196del
c.302del (p.Phe101SerfsTer3)
 gnomAD v4
19g.41414062T>ACA406007663BCKDHAc.389T>A (p.Phe130Tyr)
c.323T>A (p.Phe108Tyr)
n.515T>A
c.491T>A (p.Phe164Tyr)
c.196T>A
c.302T>A (p.Phe101Tyr)
19g.41414062T>CCA406007665BCKDHAc.389T>C (p.Phe130Ser)
c.323T>C (p.Phe108Ser)
n.515T>C
c.491T>C (p.Phe164Ser)
c.196T>C
c.302T>C (p.Phe101Ser)
19g.41414062T>GCA406007669BCKDHAc.389T>G (p.Phe130Cys)
c.323T>G (p.Phe108Cys)
n.515T>G
c.491T>G (p.Phe164Cys)
c.196T>G
c.302T>G (p.Phe101Cys)
19g.41414063C>ACA406007671BCKDHAc.390C>A (p.Phe130Leu)
c.324C>A (p.Phe108Leu)
n.516C>A
c.492C>A (p.Phe164Leu)
c.197C>A
c.303C>A (p.Phe101Leu)
19g.41414063C>GCA406007674BCKDHAc.390C>G (p.Phe130Leu)
c.324C>G (p.Phe108Leu)
n.516C>G
c.492C>G (p.Phe164Leu)
c.197C>G
c.303C>G (p.Phe101Leu)
 gnomAD v4 COSMIC
19g.41414063C>TCA507557562BCKDHAc.390C>T (p.Phe130=)
c.324C>T (p.Phe108=)
n.516C>T
c.492C>T (p.Phe164=)
c.197C>T
c.303C>T (p.Phe101=)
19g.41414064T>ACA406007683BCKDHAc.391T>A (p.Tyr131Asn)
c.325T>A (p.Tyr109Asn)
n.517T>A
c.493T>A (p.Tyr165Asn)
c.198T>A
c.304T>A (p.Tyr102Asn)
19g.41414064T>CCA406007677BCKDHAc.391T>C (p.Tyr131His)
c.325T>C (p.Tyr109His)
n.517T>C
c.493T>C (p.Tyr165His)
c.198T>C
c.304T>C (p.Tyr102His)
19g.41414064T>GCA406007680BCKDHAc.391T>G (p.Tyr131Asp)
c.325T>G (p.Tyr109Asp)
n.517T>G
c.493T>G (p.Tyr165Asp)
c.198T>G
c.304T>G (p.Tyr102Asp)
19g.41414065A>CCA406007684BCKDHAc.392A>C (p.Tyr131Ser)
c.326A>C (p.Tyr109Ser)
n.518A>C
c.494A>C (p.Tyr165Ser)
c.199A>C
c.305A>C (p.Tyr102Ser)
 gnomAD v4
19g.41414065A>GCA406007687BCKDHAc.392A>G (p.Tyr131Cys)
c.326A>G (p.Tyr109Cys)
n.518A>G
c.494A>G (p.Tyr165Cys)
c.199A>G
c.305A>G (p.Tyr102Cys)
19g.41414065A>TCA406007690BCKDHAc.392A>T (p.Tyr131Phe)
c.326A>T (p.Tyr109Phe)
n.518A>T
c.494A>T (p.Tyr165Phe)
c.199A>T
c.305A>T (p.Tyr102Phe)
19g.41414066C>ACA406007693BCKDHAc.393C>A (p.Tyr131Ter)
c.327C>A (p.Tyr109Ter)
n.519C>A
c.495C>A (p.Tyr165Ter)
c.200C>A
c.306C>A (p.Tyr102Ter)
19g.41414066C=CA2336455320BCKDHAc.393C= (p.Tyr131=)
c.327C= (p.Tyr109=)
n.519C=
c.495C= (p.Tyr165=)
c.200C=
c.306C= (p.Tyr102=)
19g.41414066C>GCA406007697BCKDHAc.393C>G (p.Tyr131Ter)
c.327C>G (p.Tyr109Ter)
n.519C>G
c.495C>G (p.Tyr165Ter)
c.200C>G
c.306C>G (p.Tyr102Ter)
 dbSNP
19g.41414066C>TCA507557580BCKDHAc.393C>T (p.Tyr131=)
c.327C>T (p.Tyr109=)
n.519C>T
c.495C>T (p.Tyr165=)
c.200C>T
c.306C>T (p.Tyr102=)
 gnomAD v4
19g.41414067A=CA2336455321BCKDHAc.394A= (p.Met132=)
c.328A= (p.Met110=)
n.520A=
c.496A= (p.Met166=)
c.201A=
c.307A= (p.Met103=)
19g.41414067A>CCA406007701BCKDHAc.394A>C (p.Met132Leu)
c.328A>C (p.Met110Leu)
n.520A>C
c.496A>C (p.Met166Leu)
c.201A>C
c.307A>C (p.Met103Leu)
 gnomAD v4
19g.41414067A>GCA406007704BCKDHAc.394A>G (p.Met132Val)
c.328A>G (p.Met110Val)
n.520A>G
c.496A>G (p.Met166Val)
c.201A>G
c.307A>G (p.Met103Val)
 dbSNP gnomAD v2 gnomAD v4
19g.41414067A>TCA406007707BCKDHAc.394A>T (p.Met132Leu)
c.328A>T (p.Met110Leu)
n.520A>T
c.496A>T (p.Met166Leu)
c.201A>T
c.307A>T (p.Met103Leu)
19g.41414068T>ACA406007710BCKDHAc.395T>A (p.Met132Lys)
c.329T>A (p.Met110Lys)
n.521T>A
c.497T>A (p.Met166Lys)
c.202T>A
c.308T>A (p.Met103Lys)
19g.41414068T>CCA406007712BCKDHAc.395T>C (p.Met132Thr)
c.329T>C (p.Met110Thr)
n.521T>C
c.497T>C (p.Met166Thr)
c.202T>C
c.308T>C (p.Met103Thr)
 dbSNP gnomAD v4
19g.41414068T>GCA406007715BCKDHAc.395T>G (p.Met132Arg)
c.329T>G (p.Met110Arg)
n.521T>G
c.497T>G (p.Met166Arg)
c.202T>G
c.308T>G (p.Met103Arg)
19g.41414068T=CA2336455322BCKDHAc.395T= (p.Met132=)
c.329T= (p.Met110=)
n.521T=
c.497T= (p.Met166=)
c.202T=
c.308T= (p.Met103=)
19g.41414069G>ACA406007725BCKDHAc.396G>A (p.Met132Ile)
c.330G>A (p.Met110Ile)
n.522G>A
c.498G>A (p.Met166Ile)
c.203G>A
c.309G>A (p.Met103Ile)
19g.41414069G>CCA406007722BCKDHAc.396G>C (p.Met132Ile)
c.330G>C (p.Met110Ile)
n.522G>C
c.498G>C (p.Met166Ile)
c.203G>C
c.309G>C (p.Met103Ile)
19g.41414069G>TCA406007719BCKDHAc.396G>T (p.Met132Ile)
c.330G>T (p.Met110Ile)
n.522G>T
c.498G>T (p.Met166Ile)
c.203G>T
c.309G>T (p.Met103Ile)
 gnomAD v4
19g.41414070delCA2695198205BCKDHAc.397del (p.Thr133ProfsTer?)
c.331del (p.Thr111ProfsTer?)
n.523del
c.499del (p.Thr167ProfsTer?)
c.204del
c.310del (p.Thr104ProfsTer?)
 ClinVar
19g.41414070A=CA2336455323BCKDHAc.397A= (p.Thr133=)
c.331A= (p.Thr111=)
n.523A=
c.499A= (p.Thr167=)
c.204A=
c.310A= (p.Thr104=)
19g.41414070A>CCA406007730BCKDHAc.397A>C (p.Thr133Pro)
c.331A>C (p.Thr111Pro)
n.523A>C
c.499A>C (p.Thr167Pro)
c.204A>C
c.310A>C (p.Thr104Pro)
19g.41414070A>GCA9461129BCKDHAc.397A>G (p.Thr133Ala)
c.331A>G (p.Thr111Ala)
n.523A>G
c.499A>G (p.Thr167Ala)
c.204A>G
c.310A>G (p.Thr104Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414070A>TCA406007737BCKDHAc.397A>T (p.Thr133Ser)
c.331A>T (p.Thr111Ser)
n.523A>T
c.499A>T (p.Thr167Ser)
c.204A>T
c.310A>T (p.Thr104Ser)
 gnomAD v4
19g.41414071C>ACA406007741BCKDHAc.398C>A (p.Thr133Asn)
c.332C>A (p.Thr111Asn)
n.524C>A
c.500C>A (p.Thr167Asn)
c.205C>A
c.311C>A (p.Thr104Asn)
19g.41414071C>GCA406007745BCKDHAc.398C>G (p.Thr133Ser)
c.332C>G (p.Thr111Ser)
n.524C>G
c.500C>G (p.Thr167Ser)
c.205C>G
c.311C>G (p.Thr104Ser)
19g.41414071C>TCA406007748BCKDHAc.398C>T (p.Thr133Ile)
c.332C>T (p.Thr111Ile)
n.524C>T
c.500C>T (p.Thr167Ile)
c.205C>T
c.311C>T (p.Thr104Ile)
 gnomAD v4
19g.41414071_41414072delinsCCCA2336455324BCKDHAc.398_399delinsCC (p.Thr133=)
c.332_333delinsCC (p.Thr111=)
n.524_525delinsCC
c.500_501delinsCC (p.Thr167=)
c.205_206delinsCC
c.311_312delinsCC (p.Thr104=)
19g.41414072C>ACA507557613BCKDHAc.399C>A (p.Thr133=)
c.333C>A (p.Thr111=)
n.525C>A
c.501C>A (p.Thr167=)
c.206C>A
c.312C>A (p.Thr104=)
19g.41414072C>GCA507557616BCKDHAc.399C>G (p.Thr133=)
c.333C>G (p.Thr111=)
n.525C>G
c.501C>G (p.Thr167=)
c.206C>G
c.312C>G (p.Thr104=)
19g.41414072C>TCA507557610BCKDHAc.399C>T (p.Thr133=)
c.333C>T (p.Thr111=)
n.525C>T
c.501C>T (p.Thr167=)
c.206C>T
c.312C>T (p.Thr104=)
19g.41414072delinsAACA16043981BCKDHAc.399delinsAA (p.Asn134LysfsTer4)
c.333delinsAA (p.Asn112LysfsTer4)
n.525delinsAA
c.501delinsAA (p.Asn168LysfsTer4)
c.206delinsAA
c.312delinsAA (p.Asn105LysfsTer4)
 ClinVar dbSNP
19g.41414073A>CCA406007754BCKDHAc.400A>C (p.Asn134His)
c.334A>C (p.Asn112His)
n.526A>C
c.502A>C (p.Asn168His)
c.207A>C
c.313A>C (p.Asn105His)
19g.41414073A>GCA406007757BCKDHAc.400A>G (p.Asn134Asp)
c.334A>G (p.Asn112Asp)
n.526A>G
c.502A>G (p.Asn168Asp)
c.207A>G
c.313A>G (p.Asn105Asp)
19g.41414073A>TCA406007759BCKDHAc.400A>T (p.Asn134Tyr)
c.334A>T (p.Asn112Tyr)
n.526A>T
c.502A>T (p.Asn168Tyr)
c.207A>T
c.313A>T (p.Asn105Tyr)
19g.41414074A=CA2336455325BCKDHAc.401A= (p.Asn134=)
c.335A= (p.Asn112=)
n.527A=
c.503A= (p.Asn168=)
c.208A=
c.314A= (p.Asn105=)
19g.41414074A>CCA406007762BCKDHAc.401A>C (p.Asn134Thr)
c.335A>C (p.Asn112Thr)
n.527A>C
c.503A>C (p.Asn168Thr)
c.208A>C
c.314A>C (p.Asn105Thr)
19g.41414074A>GCA406007766BCKDHAc.401A>G (p.Asn134Ser)
c.335A>G (p.Asn112Ser)
n.527A>G
c.503A>G (p.Asn168Ser)
c.208A>G
c.314A>G (p.Asn105Ser)
 dbSNP
19g.41414074A>TCA406007769BCKDHAc.401A>T (p.Asn134Ile)
c.335A>T (p.Asn112Ile)
n.527A>T
c.503A>T (p.Asn168Ile)
c.208A>T
c.314A>T (p.Asn105Ile)
19g.41414074_41414075delinsACCA2336455326BCKDHAc.401_402delinsAC (p.Asn134=)
c.335_336delinsAC (p.Asn112=)
n.527_528delinsAC
c.503_504delinsAC (p.Asn168=)
c.208_209delinsAC
c.314_315delinsAC (p.Asn105=)
19g.41414075delCA2336455327BCKDHAc.402del (p.Tyr135MetfsTer?)
c.336del (p.Tyr113MetfsTer?)
n.528del
c.504del (p.Tyr169MetfsTer?)
c.209del
c.315del (p.Tyr106MetfsTer?)
 ClinVar dbSNP
19g.41414075C>ACA406007777BCKDHAc.402C>A (p.Asn134Lys)
c.336C>A (p.Asn112Lys)
n.528C>A
c.504C>A (p.Asn168Lys)
c.209C>A
c.315C>A (p.Asn105Lys)
19g.41414075C=CA2336455328BCKDHAc.402C= (p.Asn134=)
c.336C= (p.Asn112=)
n.528C=
c.504C= (p.Asn168=)
c.209C=
c.315C= (p.Asn105=)
19g.41414075C>GCA406007773BCKDHAc.402C>G (p.Asn134Lys)
c.336C>G (p.Asn112Lys)
n.528C>G
c.504C>G (p.Asn168Lys)
c.209C>G
c.315C>G (p.Asn105Lys)
19g.41414075C>TCA9461130BCKDHAc.402C>T (p.Asn134=)
c.336C>T (p.Asn112=)
n.528C>T
c.504C>T (p.Asn168=)
c.209C>T
c.315C>T (p.Asn105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414076T>ACA406007781BCKDHAc.403T>A (p.Tyr135Asn)
c.337T>A (p.Tyr113Asn)
n.529T>A
c.505T>A (p.Tyr169Asn)
c.210T>A
c.316T>A (p.Tyr106Asn)
19g.41414076T>CCA406007783BCKDHAc.403T>C (p.Tyr135His)
c.337T>C (p.Tyr113His)
n.529T>C
c.505T>C (p.Tyr169His)
c.210T>C
c.316T>C (p.Tyr106His)
19g.41414076T>GCA9461131BCKDHAc.403T>G (p.Tyr135Asp)
c.337T>G (p.Tyr113Asp)
n.529T>G
c.505T>G (p.Tyr169Asp)
c.210T>G
c.316T>G (p.Tyr106Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414076T=CA2336455329BCKDHAc.403T= (p.Tyr135=)
c.337T= (p.Tyr113=)
n.529T=
c.505T= (p.Tyr169=)
c.210T=
c.316T= (p.Tyr106=)
19g.41414077A=CA2336455330BCKDHAc.404A= (p.Tyr135=)
c.338A= (p.Tyr113=)
n.530A=
c.506A= (p.Tyr169=)
c.211A=
c.317A= (p.Tyr106=)
19g.41414077A>CCA406007791BCKDHAc.404A>C (p.Tyr135Ser)
c.338A>C (p.Tyr113Ser)
n.530A>C
c.506A>C (p.Tyr169Ser)
c.211A>C
c.317A>C (p.Tyr106Ser)
19g.41414077A>GCA406007803BCKDHAc.404A>G (p.Tyr135Cys)
c.338A>G (p.Tyr113Cys)
n.530A>G
c.506A>G (p.Tyr169Cys)
c.211A>G
c.317A>G (p.Tyr106Cys)
 dbSNP gnomAD v3 gnomAD v4
19g.41414077A>TCA406007807BCKDHAc.404A>T (p.Tyr135Phe)
c.338A>T (p.Tyr113Phe)
n.530A>T
c.506A>T (p.Tyr169Phe)
c.211A>T
c.317A>T (p.Tyr106Phe)
19g.41414078T>ACA406007811BCKDHAc.405T>A (p.Tyr135Ter)
c.339T>A (p.Tyr113Ter)
n.531T>A
c.507T>A (p.Tyr169Ter)
c.212T>A
c.318T>A (p.Tyr106Ter)
 ClinVar dbSNP
19g.41414078T>CCA507557639BCKDHAc.405T>C (p.Tyr135=)
c.339T>C (p.Tyr113=)
n.531T>C
c.507T>C (p.Tyr169=)
c.212T>C
c.318T>C (p.Tyr106=)
 dbSNP gnomAD v2 gnomAD v4
19g.41414078T>GCA406007814BCKDHAc.405T>G (p.Tyr135Ter)
c.339T>G (p.Tyr113Ter)
n.531T>G
c.507T>G (p.Tyr169Ter)
c.212T>G
c.318T>G (p.Tyr106Ter)
19g.41414078T=CA2336455331BCKDHAc.405T= (p.Tyr135=)
c.339T= (p.Tyr113=)
n.531T=
c.507T= (p.Tyr169=)
c.212T=
c.318T= (p.Tyr106=)
19g.41414078_41414086delinsTGGTGAGGACA2336455332BCKDHAc.405_413delinsTGGTGAGGA (p.Tyr135=)
c.339_347delinsTGGTGAGGA (p.Tyr113=)
n.531_539delinsTGGTGAGGA
c.507_515delinsTGGTGAGGA (p.Tyr169=)
c.212_220delinsTGGTGAGGA
c.318_326delinsTGGTGAGGA (p.Tyr106=)
19g.41414079G>ACA406007819BCKDHAc.406G>A (p.Gly136Ser)
c.340G>A (p.Gly114Ser)
n.532G>A
c.508G>A (p.Gly170Ser)
c.213G>A
c.319G>A (p.Gly107Ser)
 gnomAD v4
19g.41414079G>CCA406007822BCKDHAc.406G>C (p.Gly136Arg)
c.340G>C (p.Gly114Arg)
n.532G>C
c.508G>C (p.Gly170Arg)
c.213G>C
c.319G>C (p.Gly107Arg)
19g.41414079G=CA2336455333BCKDHAc.406G= (p.Gly136=)
c.340G= (p.Gly114=)
n.532G=
c.508G= (p.Gly170=)
c.213G=
c.319G= (p.Gly107=)
19g.41414079G>TCA406007825BCKDHAc.406G>T (p.Gly136Cys)
c.340G>T (p.Gly114Cys)
n.532G>T
c.508G>T (p.Gly170Cys)
c.213G>T
c.319G>T (p.Gly107Cys)
19g.41414081_41414088delCA995972917BCKDHAc.408_415del (p.Glu137HisfsTer?)
c.342_349del (p.Glu115HisfsTer?)
n.534_541del
c.510_517del (p.Glu171HisfsTer?)
c.215_222del
c.321_328del (p.Glu108HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.41414080G>ACA406007833BCKDHAc.407G>A (p.Gly136Asp)
c.341G>A (p.Gly114Asp)
n.533G>A
c.509G>A (p.Gly170Asp)
c.214G>A
c.320G>A (p.Gly107Asp)
19g.41414080G>CCA406007839BCKDHAc.407G>C (p.Gly136Ala)
c.341G>C (p.Gly114Ala)
n.533G>C
c.509G>C (p.Gly170Ala)
c.214G>C
c.320G>C (p.Gly107Ala)
19g.41414080G>TCA406007831BCKDHAc.407G>T (p.Gly136Val)
c.341G>T (p.Gly114Val)
n.533G>T
c.509G>T (p.Gly170Val)
c.214G>T
c.320G>T (p.Gly107Val)
19g.41414083_41414099dupCA9461132BCKDHAc.410_426dup (p.Gly143ArgfsTer28)
c.344_360dup (p.Gly121ArgfsTer28)
n.536_552dup
c.512_528dup (p.Gly177ArgfsTer28)
c.217_233dup
c.323_339dup (p.Gly114ArgfsTer28)
 ClinVar dbSNP ExAC gnomAD v2
19g.41414081T>ACA507557660BCKDHAc.408T>A (p.Gly136=)
c.342T>A (p.Gly114=)
n.534T>A
c.510T>A (p.Gly170=)
c.215T>A
c.321T>A (p.Gly107=)
 dbSNP
19g.41414081T>CCA507557663BCKDHAc.408T>C (p.Gly136=)
c.342T>C (p.Gly114=)
n.534T>C
c.510T>C (p.Gly170=)
c.215T>C
c.321T>C (p.Gly107=)
19g.41414081T>GCA507557666BCKDHAc.408T>G (p.Gly136=)
c.342T>G (p.Gly114=)
n.534T>G
c.510T>G (p.Gly170=)
c.215T>G
c.321T>G (p.Gly107=)
19g.41414081T=CA2336455334BCKDHAc.408T= (p.Gly136=)
c.342T= (p.Gly114=)
n.534T=
c.510T= (p.Gly170=)
c.215T=
c.321T= (p.Gly107=)
19g.41414082G>ACA406007842BCKDHAc.409G>A (p.Glu137Lys)
c.343G>A (p.Glu115Lys)
n.535G>A
c.511G>A (p.Glu171Lys)
c.216G>A
c.322G>A (p.Glu108Lys)
19g.41414082G>CCA406007845BCKDHAc.409G>C (p.Glu137Gln)
c.343G>C (p.Glu115Gln)
n.535G>C
c.511G>C (p.Glu171Gln)
c.216G>C
c.322G>C (p.Glu108Gln)
19g.41414082G>TCA406007846BCKDHAc.409G>T (p.Glu137Ter)
c.343G>T (p.Glu115Ter)
n.535G>T
c.511G>T (p.Glu171Ter)
c.216G>T
c.322G>T (p.Glu108Ter)
19g.41414083A>CCA406007847BCKDHAc.410A>C (p.Glu137Ala)
c.344A>C (p.Glu115Ala)
n.536A>C
c.512A>C (p.Glu171Ala)
c.217A>C
c.323A>C (p.Glu108Ala)
19g.41414083A>GCA406007849BCKDHAc.410A>G (p.Glu137Gly)
c.344A>G (p.Glu115Gly)
n.536A>G
c.512A>G (p.Glu171Gly)
c.217A>G
c.323A>G (p.Glu108Gly)
19g.41414083A>TCA406007860BCKDHAc.410A>T (p.Glu137Val)
c.344A>T (p.Glu115Val)
n.536A>T
c.512A>T (p.Glu171Val)
c.217A>T
c.323A>T (p.Glu108Val)
19g.41414084G>ACA507557672BCKDHAc.411G>A (p.Glu137=)
c.345G>A (p.Glu115=)
n.537G>A
c.513G>A (p.Glu171=)
c.218G>A
c.324G>A (p.Glu108=)
19g.41414084G>CCA406007864BCKDHAc.411G>C (p.Glu137Asp)
c.345G>C (p.Glu115Asp)
n.537G>C
c.513G>C (p.Glu171Asp)
c.218G>C
c.324G>C (p.Glu108Asp)
19g.41414084G>TCA406007867BCKDHAc.411G>T (p.Glu137Asp)
c.345G>T (p.Glu115Asp)
n.537G>T
c.513G>T (p.Glu171Asp)
c.218G>T
c.324G>T (p.Glu108Asp)
19g.41414085G>ACA406007870BCKDHAc.412G>A (p.Glu138Lys)
c.346G>A (p.Glu116Lys)
n.538G>A
c.514G>A (p.Glu172Lys)
c.219G>A
c.325G>A (p.Glu109Lys)
19g.41414085G>CCA406007872BCKDHAc.412G>C (p.Glu138Gln)
c.346G>C (p.Glu116Gln)
n.538G>C
c.514G>C (p.Glu172Gln)
c.219G>C
c.325G>C (p.Glu109Gln)
19g.41414085G>TCA406007875BCKDHAc.412G>T (p.Glu138Ter)
c.346G>T (p.Glu116Ter)
n.538G>T
c.514G>T (p.Glu172Ter)
c.219G>T
c.325G>T (p.Glu109Ter)
19g.41414086A>CCA406007879BCKDHAc.413A>C (p.Glu138Ala)
c.347A>C (p.Glu116Ala)
n.539A>C
c.515A>C (p.Glu172Ala)
c.220A>C
c.326A>C (p.Glu109Ala)
19g.41414086A>GCA406007882BCKDHAc.413A>G (p.Glu138Gly)
c.347A>G (p.Glu116Gly)
n.539A>G
c.515A>G (p.Glu172Gly)
c.220A>G
c.326A>G (p.Glu109Gly)
19g.41414086A>TCA406007885BCKDHAc.413A>T (p.Glu138Val)
c.347A>T (p.Glu116Val)
n.539A>T
c.515A>T (p.Glu172Val)
c.220A>T
c.326A>T (p.Glu109Val)
19g.41414087G>ACA507557694BCKDHAc.414G>A (p.Glu138=)
c.348G>A (p.Glu116=)
n.540G>A
c.516G>A (p.Glu172=)
c.221G>A
c.327G>A (p.Glu109=)
19g.41414087G>CCA406007895BCKDHAc.414G>C (p.Glu138Asp)
c.348G>C (p.Glu116Asp)
n.540G>C
c.516G>C (p.Glu172Asp)
c.221G>C
c.327G>C (p.Glu109Asp)
19g.41414087G>TCA406007892BCKDHAc.414G>T (p.Glu138Asp)
c.348G>T (p.Glu116Asp)
n.540G>T
c.516G>T (p.Glu172Asp)
c.221G>T
c.327G>T (p.Glu109Asp)
19g.41414089delCA2739276856BCKDHAc.416del (p.Gly139AlafsTer26)
c.350del (p.Gly117AlafsTer26)
n.542del
c.518del (p.Gly173AlafsTer26)
c.223del
c.329del (p.Gly110AlafsTer26)
 ClinVar
19g.41414088G>ACA406007897BCKDHAc.415G>A (p.Gly139Ser)
c.349G>A (p.Gly117Ser)
n.541G>A
c.517G>A (p.Gly173Ser)
c.222G>A
c.328G>A (p.Gly110Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.41414088G>CCA406007899BCKDHAc.415G>C (p.Gly139Arg)
c.349G>C (p.Gly117Arg)
n.541G>C
c.517G>C (p.Gly173Arg)
c.222G>C
c.328G>C (p.Gly110Arg)
19g.41414088G=CA2336455335BCKDHAc.415G= (p.Gly139=)
c.349G= (p.Gly117=)
n.541G=
c.517G= (p.Gly173=)
c.222G=
c.328G= (p.Gly110=)
19g.41414088G>TCA406007903BCKDHAc.415G>T (p.Gly139Cys)
c.349G>T (p.Gly117Cys)
n.541G>T
c.517G>T (p.Gly173Cys)
c.222G>T
c.328G>T (p.Gly110Cys)
19g.41414089G>ACA406007905BCKDHAc.416G>A (p.Gly139Asp)
c.350G>A (p.Gly117Asp)
n.542G>A
c.518G>A (p.Gly173Asp)
c.223G>A
c.329G>A (p.Gly110Asp)
 gnomAD v4
19g.41414089G>CCA406007907BCKDHAc.416G>C (p.Gly139Ala)
c.350G>C (p.Gly117Ala)
n.542G>C
c.518G>C (p.Gly173Ala)
c.223G>C
c.329G>C (p.Gly110Ala)
19g.41414089G>TCA406007911BCKDHAc.416G>T (p.Gly139Val)
c.350G>T (p.Gly117Val)
n.542G>T
c.518G>T (p.Gly173Val)
c.223G>T
c.329G>T (p.Gly110Val)
19g.41414090C>ACA507557710BCKDHAc.417C>A (p.Gly139=)
c.351C>A (p.Gly117=)
n.543C>A
c.519C>A (p.Gly173=)
c.224C>A
c.330C>A (p.Gly110=)
19g.41414090C>GCA507557716BCKDHAc.417C>G (p.Gly139=)
c.351C>G (p.Gly117=)
n.543C>G
c.519C>G (p.Gly173=)
c.224C>G
c.330C>G (p.Gly110=)
19g.41414090C>TCA507557713BCKDHAc.417C>T (p.Gly139=)
c.351C>T (p.Gly117=)
n.543C>T
c.519C>T (p.Gly173=)
c.224C>T
c.330C>T (p.Gly110=)
19g.41414091A>CCA406007919BCKDHAc.418A>C (p.Thr140Pro)
c.352A>C (p.Thr118Pro)
n.544A>C
c.520A>C (p.Thr174Pro)
c.225A>C
c.331A>C (p.Thr111Pro)
19g.41414091A>GCA406007915BCKDHAc.418A>G (p.Thr140Ala)
c.352A>G (p.Thr118Ala)
n.544A>G
c.520A>G (p.Thr174Ala)
c.225A>G
c.331A>G (p.Thr111Ala)
19g.41414091A>TCA406007918BCKDHAc.418A>T (p.Thr140Ser)
c.352A>T (p.Thr118Ser)
n.544A>T
c.520A>T (p.Thr174Ser)
c.225A>T
c.331A>T (p.Thr111Ser)
19g.41414092C>ACA406007921BCKDHAc.419C>A (p.Thr140Lys)
c.353C>A (p.Thr118Lys)
n.545C>A
c.521C>A (p.Thr174Lys)
c.226C>A
c.332C>A (p.Thr111Lys)
19g.41414092C=CA2336455336BCKDHAc.419C= (p.Thr140=)
c.353C= (p.Thr118=)
n.545C=
c.521C= (p.Thr174=)
c.226C=
c.332C= (p.Thr111=)
19g.41414092C>GCA406007925BCKDHAc.419C>G (p.Thr140Arg)
c.353C>G (p.Thr118Arg)
n.545C>G
c.521C>G (p.Thr174Arg)
c.226C>G
c.332C>G (p.Thr111Arg)
19g.41414092C>TCA406007932BCKDHAc.419C>T (p.Thr140Met)
c.353C>T (p.Thr118Met)
n.545C>T
c.521C>T (p.Thr174Met)
c.226C>T
c.332C>T (p.Thr111Met)
 dbSNP gnomAD v2 gnomAD v4
19g.41414093G>ACA9461134BCKDHAc.420G>A (p.Thr140=)
c.354G>A (p.Thr118=)
n.546G>A
c.522G>A (p.Thr174=)
c.227G>A
c.333G>A (p.Thr111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414093G>CCA507557737BCKDHAc.420G>C (p.Thr140=)
c.354G>C (p.Thr118=)
n.546G>C
c.522G>C (p.Thr174=)
c.227G>C
c.333G>C (p.Thr111=)
 ClinVar
19g.41414093G=CA2336455337BCKDHAc.420G= (p.Thr140=)
c.354G= (p.Thr118=)
n.546G=
c.522G= (p.Thr174=)
c.227G=
c.333G= (p.Thr111=)
19g.41414093G>TCA9461133BCKDHAc.420G>T (p.Thr140=)
c.354G>T (p.Thr118=)
n.546G>T
c.522G>T (p.Thr174=)
c.227G>T
c.333G>T (p.Thr111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414094C>ACA406007941BCKDHAc.421C>A (p.His141Asn)
c.355C>A (p.His119Asn)
n.547C>A
c.523C>A (p.His175Asn)
c.228C>A
c.334C>A (p.His112Asn)
 ClinVar dbSNP gnomAD v4
19g.41414094C=CA2336455338BCKDHAc.421C= (p.His141=)
c.355C= (p.His119=)
n.547C=
c.523C= (p.His175=)
c.228C=
c.334C= (p.His112=)
19g.41414094C>GCA406007948BCKDHAc.421C>G (p.His141Asp)
c.355C>G (p.His119Asp)
n.547C>G
c.523C>G (p.His175Asp)
c.228C>G
c.334C>G (p.His112Asp)
19g.41414094C>TCA406007945BCKDHAc.421C>T (p.His141Tyr)
c.355C>T (p.His119Tyr)
n.547C>T
c.523C>T (p.His175Tyr)
c.228C>T
c.334C>T (p.His112Tyr)
19g.41414095A>CCA406007952BCKDHAc.422A>C (p.His141Pro)
c.356A>C (p.His119Pro)
n.548A>C
c.524A>C (p.His175Pro)
c.229A>C
c.335A>C (p.His112Pro)
19g.41414095A>GCA406007955BCKDHAc.422A>G (p.His141Arg)
c.356A>G (p.His119Arg)
n.548A>G
c.524A>G (p.His175Arg)
c.229A>G
c.335A>G (p.His112Arg)
19g.41414095A>TCA406007957BCKDHAc.422A>T (p.His141Leu)
c.356A>T (p.His119Leu)
n.548A>T
c.524A>T (p.His175Leu)
c.229A>T
c.335A>T (p.His112Leu)
19g.41414096C>ACA406007959BCKDHAc.423C>A (p.His141Gln)
c.357C>A (p.His119Gln)
n.549C>A
c.525C>A (p.His175Gln)
c.230C>A
c.336C>A (p.His112Gln)
19g.41414096C=CA2336455339BCKDHAc.423C= (p.His141=)
c.357C= (p.His119=)
n.549C=
c.525C= (p.His175=)
c.230C=
c.336C= (p.His112=)
19g.41414096C>GCA9461136BCKDHAc.423C>G (p.His141Gln)
c.357C>G (p.His119Gln)
n.549C>G
c.525C>G (p.His175Gln)
c.230C>G
c.336C>G (p.His112Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414096C>TCA9461135BCKDHAc.423C>T (p.His141=)
c.357C>T (p.His119=)
n.549C>T
c.525C>T (p.His175=)
c.230C>T
c.336C>T (p.His112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414097G>ACA9461137BCKDHAc.424G>A (p.Val142Met)
c.358G>A (p.Val120Met)
n.550G>A
c.526G>A (p.Val176Met)
c.231G>A
c.337G>A (p.Val113Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414097G>CCA406007969BCKDHAc.424G>C (p.Val142Leu)
c.358G>C (p.Val120Leu)
n.550G>C
c.526G>C (p.Val176Leu)
c.231G>C
c.337G>C (p.Val113Leu)
19g.41414097G=CA2336455340BCKDHAc.424G= (p.Val142=)
c.358G= (p.Val120=)
n.550G=
c.526G= (p.Val176=)
c.231G=
c.337G= (p.Val113=)
19g.41414097G>TCA406007972BCKDHAc.424G>T (p.Val142Leu)
c.358G>T (p.Val120Leu)
n.550G>T
c.526G>T (p.Val176Leu)
c.231G>T
c.337G>T (p.Val113Leu)
19g.41414098T>ACA406007977BCKDHAc.425T>A (p.Val142Glu)
c.359T>A (p.Val120Glu)
n.551T>A
c.527T>A (p.Val176Glu)
c.232T>A
c.338T>A (p.Val113Glu)
19g.41414098T>CCA406007981BCKDHAc.425T>C (p.Val142Ala)
c.359T>C (p.Val120Ala)
n.551T>C
c.527T>C (p.Val176Ala)
c.232T>C
c.338T>C (p.Val113Ala)
19g.41414098T>GCA406007984BCKDHAc.425T>G (p.Val142Gly)
c.359T>G (p.Val120Gly)
n.551T>G
c.527T>G (p.Val176Gly)
c.232T>G
c.338T>G (p.Val113Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.41414098T=CA2336455341BCKDHAc.425T= (p.Val142=)
c.359T= (p.Val120=)
n.551T=
c.527T= (p.Val176=)
c.232T=
c.338T= (p.Val113=)
19g.41414099G>ACA9461138BCKDHAc.426G>A (p.Val142=)
c.360G>A (p.Val120=)
n.552G>A
c.528G>A (p.Val176=)
c.233G>A
c.339G>A (p.Val113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414099G>CCA507557772BCKDHAc.426G>C (p.Val142=)
c.360G>C (p.Val120=)
n.552G>C
c.528G>C (p.Val176=)
c.233G>C
c.339G>C (p.Val113=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41414099G=CA2336455342BCKDHAc.426G= (p.Val142=)
c.360G= (p.Val120=)
n.552G=
c.528G= (p.Val176=)
c.233G=
c.339G= (p.Val113=)
19g.41414099G>TCA507557775BCKDHAc.426G>T (p.Val142=)
c.360G>T (p.Val120=)
n.552G>T
c.528G>T (p.Val176=)
c.233G>T
c.339G>T (p.Val113=)
19g.41414102delCA2580097289BCKDHAc.429del (p.Ser144ValfsTer21)
c.363del (p.Ser122ValfsTer21)
n.555del
c.531del (p.Ser178ValfsTer21)
c.236del
c.342del (p.Ser115ValfsTer21)
 ClinVar
19g.41414100G>ACA406007997BCKDHAc.427G>A (p.Gly143Arg)
c.361G>A (p.Gly121Arg)
n.553G>A
c.529G>A (p.Gly177Arg)
c.234G>A
c.340G>A (p.Gly114Arg)
19g.41414100G>CCA406007990BCKDHAc.427G>C (p.Gly143Arg)
c.361G>C (p.Gly121Arg)
n.553G>C
c.529G>C (p.Gly177Arg)
c.234G>C
c.340G>C (p.Gly114Arg)
19g.41414100G>TCA406007994BCKDHAc.427G>T (p.Gly143Trp)
c.361G>T (p.Gly121Trp)
n.553G>T
c.529G>T (p.Gly177Trp)
c.234G>T
c.340G>T (p.Gly114Trp)
19g.41414101G>ACA406008001BCKDHAc.428G>A (p.Gly143Glu)
c.362G>A (p.Gly121Glu)
n.554G>A
c.530G>A (p.Gly177Glu)
c.235G>A
c.341G>A (p.Gly114Glu)
 ClinVar dbSNP
19g.41414101G>CCA406008004BCKDHAc.428G>C (p.Gly143Ala)
c.362G>C (p.Gly121Ala)
n.554G>C
c.530G>C (p.Gly177Ala)
c.235G>C
c.341G>C (p.Gly114Ala)
19g.41414101G=CA2336455343BCKDHAc.428G= (p.Gly143=)
c.362G= (p.Gly121=)
n.554G=
c.530G= (p.Gly177=)
c.235G=
c.341G= (p.Gly114=)
19g.41414101G>TCA406008007BCKDHAc.428G>T (p.Gly143Val)
c.362G>T (p.Gly121Val)
n.554G>T
c.530G>T (p.Gly177Val)
c.235G>T
c.341G>T (p.Gly114Val)
19g.41414102G>ACA507557790BCKDHAc.429G>A (p.Gly143=)
c.363G>A (p.Gly121=)
n.555G>A
c.531G>A (p.Gly177=)
c.236G>A
c.342G>A (p.Gly114=)
 dbSNP gnomAD v2 gnomAD v4
19g.41414102G>CCA507557792BCKDHAc.429G>C (p.Gly143=)
c.363G>C (p.Gly121=)
n.555G>C
c.531G>C (p.Gly177=)
c.236G>C
c.342G>C (p.Gly114=)
19g.41414102G=CA2336455344BCKDHAc.429G= (p.Gly143=)
c.363G= (p.Gly121=)
n.555G=
c.531G= (p.Gly177=)
c.236G=
c.342G= (p.Gly114=)
19g.41414102G>TCA507557795BCKDHAc.429G>T (p.Gly143=)
c.363G>T (p.Gly121=)
n.555G>T
c.531G>T (p.Gly177=)
c.236G>T
c.342G>T (p.Gly114=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41414103A=CA2336455345BCKDHAc.430A= (p.Ser144=)
c.364A= (p.Ser122=)
n.556A=
c.532A= (p.Ser178=)
c.237A=
c.343A= (p.Ser115=)
19g.41414103A>CCA406008012BCKDHAc.430A>C (p.Ser144Arg)
c.364A>C (p.Ser122Arg)
n.556A>C
c.532A>C (p.Ser178Arg)
c.237A>C
c.343A>C (p.Ser115Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.41414103A>GCA406008014BCKDHAc.430A>G (p.Ser144Gly)
c.364A>G (p.Ser122Gly)
n.556A>G
c.532A>G (p.Ser178Gly)
c.237A>G
c.343A>G (p.Ser115Gly)
19g.41414103A>TCA406008019BCKDHAc.430A>T (p.Ser144Cys)
c.364A>T (p.Ser122Cys)
n.556A>T
c.532A>T (p.Ser178Cys)
c.237A>T
c.343A>T (p.Ser115Cys)
19g.41414104G>ACA9461139BCKDHAc.431G>A (p.Ser144Asn)
c.365G>A (p.Ser122Asn)
n.557G>A
c.533G>A (p.Ser178Asn)
c.238G>A
c.344G>A (p.Ser115Asn)
 dbSNP ExAC gnomAD v2
19g.41414104G>CCA406008026BCKDHAc.431G>C (p.Ser144Thr)
c.365G>C (p.Ser122Thr)
n.557G>C
c.533G>C (p.Ser178Thr)
c.238G>C
c.344G>C (p.Ser115Thr)
19g.41414104G=CA2336455346BCKDHAc.431G= (p.Ser144=)
c.365G= (p.Ser122=)
n.557G=
c.533G= (p.Ser178=)
c.238G=
c.344G= (p.Ser115=)
19g.41414104G>TCA406008029BCKDHAc.431G>T (p.Ser144Ile)
c.365G>T (p.Ser122Ile)
n.557G>T
c.533G>T (p.Ser178Ile)
c.238G>T
c.344G>T (p.Ser115Ile)
19g.41414105T>ACA406008033BCKDHAc.432T>A (p.Ser144Arg)
c.366T>A (p.Ser122Arg)
n.558T>A
c.534T>A (p.Ser178Arg)
c.239T>A
c.345T>A (p.Ser115Arg)
19g.41414105T>CCA308518013BCKDHAc.432T>C (p.Ser144=)
c.366T>C (p.Ser122=)
n.558T>C
c.534T>C (p.Ser178=)
c.239T>C
c.345T>C (p.Ser115=)
 dbSNP
19g.41414105T>GCA406008039BCKDHAc.432T>G (p.Ser144Arg)
c.366T>G (p.Ser122Arg)
n.558T>G
c.534T>G (p.Ser178Arg)
c.239T>G
c.345T>G (p.Ser115Arg)
19g.41414105T=CA2336455347BCKDHAc.432T= (p.Ser144=)
c.366T= (p.Ser122=)
n.558T=
c.534T= (p.Ser178=)
c.239T=
c.345T= (p.Ser115=)
19g.41414106G>ACA406008050BCKDHAc.433G>A (p.Ala145Thr)
c.367G>A (p.Ala123Thr)
n.559G>A
c.535G>A (p.Ala179Thr)
c.240G>A
c.346G>A (p.Ala116Thr)
 gnomAD v4
19g.41414106G>CCA406008044BCKDHAc.433G>C (p.Ala145Pro)
c.367G>C (p.Ala123Pro)
n.559G>C
c.535G>C (p.Ala179Pro)
c.240G>C
c.346G>C (p.Ala116Pro)
19g.41414106G=CA2336455348BCKDHAc.433G= (p.Ala145=)
c.367G= (p.Ala123=)
n.559G=
c.535G= (p.Ala179=)
c.240G=
c.346G= (p.Ala116=)
19g.41414106G>TCA406008046BCKDHAc.433G>T (p.Ala145Ser)
c.367G>T (p.Ala123Ser)
n.559G>T
c.535G>T (p.Ala179Ser)
c.240G>T
c.346G>T (p.Ala116Ser)
 dbSNP gnomAD v4
19g.41414107C>ACA406008054BCKDHAc.434C>A (p.Ala145Asp)
c.368C>A (p.Ala123Asp)
n.560C>A
c.536C>A (p.Ala179Asp)
c.241C>A
c.347C>A (p.Ala116Asp)
19g.41414107C=CA2336455349BCKDHAc.434C= (p.Ala145=)
c.368C= (p.Ala123=)
n.560C=
c.536C= (p.Ala179=)
c.241C=
c.347C= (p.Ala116=)
19g.41414107C>GCA406008058BCKDHAc.434C>G (p.Ala145Gly)
c.368C>G (p.Ala123Gly)
n.560C>G
c.536C>G (p.Ala179Gly)
c.241C>G
c.347C>G (p.Ala116Gly)
19g.41414107C>TCA406008060BCKDHAc.434C>T (p.Ala145Val)
c.368C>T (p.Ala123Val)
n.560C>T
c.536C>T (p.Ala179Val)
c.241C>T
c.347C>T (p.Ala116Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41414108C>ACA507557832BCKDHAc.435C>A (p.Ala145=)
c.369C>A (p.Ala123=)
n.561C>A
c.537C>A (p.Ala179=)
c.242C>A
c.348C>A (p.Ala116=)
 gnomAD v4
19g.41414108C=CA2336455350BCKDHAc.435C= (p.Ala145=)
c.369C= (p.Ala123=)
n.561C=
c.537C= (p.Ala179=)
c.242C=
c.348C= (p.Ala116=)
19g.41414108C>GCA507557848BCKDHAc.435C>G (p.Ala145=)
c.369C>G (p.Ala123=)
n.561C>G
c.537C>G (p.Ala179=)
c.242C>G
c.348C>G (p.Ala116=)
19g.41414108C>TCA9461140BCKDHAc.435C>T (p.Ala145=)
c.369C>T (p.Ala123=)
n.561C>T
c.537C>T (p.Ala179=)
c.242C>T
c.348C>T (p.Ala116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414109G>ACA9461141BCKDHAc.436G>A (p.Ala146Thr)
c.370G>A (p.Ala124Thr)
n.562G>A
c.538G>A (p.Ala180Thr)
c.243G>A
c.349G>A (p.Ala117Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414109G>CCA406008069BCKDHAc.436G>C (p.Ala146Pro)
c.370G>C (p.Ala124Pro)
n.562G>C
c.538G>C (p.Ala180Pro)
c.243G>C
c.349G>C (p.Ala117Pro)
19g.41414109G=CA2336455351BCKDHAc.436G= (p.Ala146=)
c.370G= (p.Ala124=)
n.562G=
c.538G= (p.Ala180=)
c.243G=
c.349G= (p.Ala117=)
19g.41414109G>TCA406008073BCKDHAc.436G>T (p.Ala146Ser)
c.370G>T (p.Ala124Ser)
n.562G>T
c.538G>T (p.Ala180Ser)
c.243G>T
c.349G>T (p.Ala117Ser)
19g.41414110C>ACA406008078BCKDHAc.437C>A (p.Ala146Asp)
c.371C>A (p.Ala124Asp)
n.563C>A
c.539C>A (p.Ala180Asp)
c.244C>A
c.350C>A (p.Ala117Asp)
19g.41414110C>GCA406008083BCKDHAc.437C>G (p.Ala146Gly)
c.371C>G (p.Ala124Gly)
n.563C>G
c.539C>G (p.Ala180Gly)
c.244C>G
c.350C>G (p.Ala117Gly)
19g.41414110C>TCA406008081BCKDHAc.437C>T (p.Ala146Val)
c.371C>T (p.Ala124Val)
n.563C>T
c.539C>T (p.Ala180Val)
c.244C>T
c.350C>T (p.Ala117Val)
19g.41414111C>ACA507557878BCKDHAc.438C>A (p.Ala146=)
c.372C>A (p.Ala124=)
n.564C>A
c.540C>A (p.Ala180=)
c.245C>A
c.351C>A (p.Ala117=)
19g.41414111C=CA2336455352BCKDHAc.438C= (p.Ala146=)
c.372C= (p.Ala124=)
n.564C=
c.540C= (p.Ala180=)
c.245C=
c.351C= (p.Ala117=)
19g.41414111C>GCA507557884BCKDHAc.438C>G (p.Ala146=)
c.372C>G (p.Ala124=)
n.564C>G
c.540C>G (p.Ala180=)
c.245C>G
c.351C>G (p.Ala117=)
 ClinVar dbSNP
19g.41414111C>TCA9461142BCKDHAc.438C>T (p.Ala146=)
c.372C>T (p.Ala124=)
n.564C>T
c.540C>T (p.Ala180=)
c.245C>T
c.351C>T (p.Ala117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41414112G>ACA406008089BCKDHAc.439G>A (p.Ala147Thr)
c.373G>A (p.Ala125Thr)
n.565G>A
c.541G>A (p.Ala181Thr)
c.246G>A
c.352G>A (p.Ala118Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41414112G>CCA406008092BCKDHAc.439G>C (p.Ala147Pro)
c.373G>C (p.Ala125Pro)
n.565G>C
c.541G>C (p.Ala181Pro)
c.246G>C
c.352G>C (p.Ala118Pro)
19g.41414112G=CA2336455353BCKDHAc.439G= (p.Ala147=)
c.373G= (p.Ala125=)
n.565G=
c.541G= (p.Ala181=)
c.246G=
c.352G= (p.Ala118=)
19g.41414112G>TCA9461143BCKDHAc.439G>T (p.Ala147Ser)
c.373G>T (p.Ala125Ser)
n.565G>T
c.541G>T (p.Ala181Ser)
c.246G>T
c.352G>T (p.Ala118Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414113C>ACA406008104BCKDHAc.440C>A (p.Ala147Asp)
c.374C>A (p.Ala125Asp)
n.566C>A
c.542C>A (p.Ala181Asp)
c.247C>A
c.353C>A (p.Ala118Asp)
19g.41414113C>GCA406008097BCKDHAc.440C>G (p.Ala147Gly)
c.374C>G (p.Ala125Gly)
n.566C>G
c.542C>G (p.Ala181Gly)
c.247C>G
c.353C>G (p.Ala118Gly)
19g.41414113C>TCA406008102BCKDHAc.440C>T (p.Ala147Val)
c.374C>T (p.Ala125Val)
n.566C>T
c.542C>T (p.Ala181Val)
c.247C>T
c.353C>T (p.Ala118Val)
19g.41414113_41414114delinsTTCA645614573BCKDHAc.440_441delinsTT (p.Ala147Val)
c.374_375delinsTT (p.Ala125Val)
n.566_567delinsTT
c.542_543delinsTT (p.Ala181Val)
c.247_248delinsTT
c.353_354delinsTT (p.Ala118Val)
 COSMIC
19g.41414114C>ACA507557895BCKDHAc.441C>A (p.Ala147=)
c.375C>A (p.Ala125=)
n.567C>A
c.543C>A (p.Ala181=)
c.248C>A
c.354C>A (p.Ala118=)
 gnomAD v4
19g.41414114C=CA2336455354BCKDHAc.441C= (p.Ala147=)
c.375C= (p.Ala125=)
n.567C=
c.543C= (p.Ala181=)
c.248C=
c.354C= (p.Ala118=)
19g.41414114C>GCA507557896BCKDHAc.441C>G (p.Ala147=)
c.375C>G (p.Ala125=)
n.567C>G
c.543C>G (p.Ala181=)
c.248C>G
c.354C>G (p.Ala118=)
 ClinVar dbSNP gnomAD v4
19g.41414114C>TCA507557899BCKDHAc.441C>T (p.Ala147=)
c.375C>T (p.Ala125=)
n.567C>T
c.543C>T (p.Ala181=)
c.248C>T
c.354C>T (p.Ala118=)
19g.41414115C>ACA406008108BCKDHAc.442C>A (p.Leu148Met)
c.376C>A (p.Leu126Met)
n.568C>A
c.544C>A (p.Leu182Met)
c.249C>A
c.355C>A (p.Leu119Met)
19g.41414115C>GCA406008111BCKDHAc.442C>G (p.Leu148Val)
c.376C>G (p.Leu126Val)
n.568C>G
c.544C>G (p.Leu182Val)
c.249C>G
c.355C>G (p.Leu119Val)
19g.41414115C>TCA507557902BCKDHAc.442C>T (p.Leu148=)
c.376C>T (p.Leu126=)
n.568C>T
c.544C>T (p.Leu182=)
c.249C>T
c.355C>T (p.Leu119=)
19g.41414116T>ACA406008115BCKDHAc.443T>A (p.Leu148Gln)
c.377T>A (p.Leu126Gln)
n.569T>A
c.545T>A (p.Leu182Gln)
c.250T>A
c.356T>A (p.Leu119Gln)
19g.41414116T>CCA406008117BCKDHAc.443T>C (p.Leu148Pro)
c.377T>C (p.Leu126Pro)
n.569T>C
c.545T>C (p.Leu182Pro)
c.250T>C
c.356T>C (p.Leu119Pro)
19g.41414116T>GCA9461144BCKDHAc.443T>G (p.Leu148Arg)
c.377T>G (p.Leu126Arg)
n.569T>G
c.545T>G (p.Leu182Arg)
c.250T>G
c.356T>G (p.Leu119Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414116T=CA2336455355BCKDHAc.443T= (p.Leu148=)
c.377T= (p.Leu126=)
n.569T=
c.545T= (p.Leu182=)
c.250T=
c.356T= (p.Leu119=)
19g.41414117G>ACA507557916BCKDHAc.444G>A (p.Leu148=)
c.378G>A (p.Leu126=)
n.570G>A
c.546G>A (p.Leu182=)
c.251G>A
c.357G>A (p.Leu119=)
19g.41414117G>CCA507557917BCKDHAc.444G>C (p.Leu148=)
c.378G>C (p.Leu126=)
n.570G>C
c.546G>C (p.Leu182=)
c.251G>C
c.357G>C (p.Leu119=)
19g.41414117G>TCA507557918BCKDHAc.444G>T (p.Leu148=)
c.378G>T (p.Leu126=)
n.570G>T
c.546G>T (p.Leu182=)
c.251G>T
c.357G>T (p.Leu119=)
19g.41414118G>ACA406008123BCKDHAc.445G>A (p.Asp149Asn)
c.379G>A (p.Asp127Asn)
n.571G>A
c.547G>A (p.Asp183Asn)
c.252G>A
c.358G>A (p.Asp120Asn)
19g.41414118G>CCA9461145BCKDHAc.445G>C (p.Asp149His)
c.379G>C (p.Asp127His)
n.571G>C
c.547G>C (p.Asp183His)
c.252G>C
c.358G>C (p.Asp120His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414118G=CA2336455356BCKDHAc.445G= (p.Asp149=)
c.379G= (p.Asp127=)
n.571G=
c.547G= (p.Asp183=)
c.252G=
c.358G= (p.Asp120=)
19g.41414118G>TCA406008130BCKDHAc.445G>T (p.Asp149Tyr)
c.379G>T (p.Asp127Tyr)
n.571G>T
c.547G>T (p.Asp183Tyr)
c.252G>T
c.358G>T (p.Asp120Tyr)
19g.41414119A=CA2336455357BCKDHAc.446A= (p.Asp149=)
c.380A= (p.Asp127=)
n.572A=
c.548A= (p.Asp183=)
c.253A=
c.359A= (p.Asp120=)
19g.41414119A>CCA406008134BCKDHAc.446A>C (p.Asp149Ala)
c.380A>C (p.Asp127Ala)
n.572A>C
c.548A>C (p.Asp183Ala)
c.253A>C
c.359A>C (p.Asp120Ala)
19g.41414119A>GCA9461146BCKDHAc.446A>G (p.Asp149Gly)
c.380A>G (p.Asp127Gly)
n.572A>G
c.548A>G (p.Asp183Gly)
c.253A>G
c.359A>G (p.Asp120Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414119A>TCA406008148BCKDHAc.446A>T (p.Asp149Val)
c.380A>T (p.Asp127Val)
n.572A>T
c.548A>T (p.Asp183Val)
c.253A>T
c.359A>T (p.Asp120Val)
19g.41414120C>ACA406008150BCKDHAc.447C>A (p.Asp149Glu)
c.381C>A (p.Asp127Glu)
n.573C>A
c.549C>A (p.Asp183Glu)
c.254C>A
c.360C>A (p.Asp120Glu)
19g.41414120C>GCA406008151BCKDHAc.447C>G (p.Asp149Glu)
c.381C>G (p.Asp127Glu)
n.573C>G
c.549C>G (p.Asp183Glu)
c.254C>G
c.360C>G (p.Asp120Glu)
19g.41414120C>TCA507557943BCKDHAc.447C>T (p.Asp149=)
c.381C>T (p.Asp127=)
n.573C>T
c.549C>T (p.Asp183=)
c.254C>T
c.360C>T (p.Asp120=)
19g.41414121A=CA2336455358BCKDHAc.448A= (p.Asn150=)
c.382A= (p.Asn128=)
n.574A=
c.550A= (p.Asn184=)
c.255A=
c.361A= (p.Asn121=)
19g.41414121A>CCA406008154BCKDHAc.448A>C (p.Asn150His)
c.382A>C (p.Asn128His)
n.574A>C
c.550A>C (p.Asn184His)
c.255A>C
c.361A>C (p.Asn121His)
19g.41414121A>GCA9461147BCKDHAc.448A>G (p.Asn150Asp)
c.382A>G (p.Asn128Asp)
n.574A>G
c.550A>G (p.Asn184Asp)
c.255A>G
c.361A>G (p.Asn121Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414121A>TCA406008152BCKDHAc.448A>T (p.Asn150Tyr)
c.382A>T (p.Asn128Tyr)
n.574A>T
c.550A>T (p.Asn184Tyr)
c.255A>T
c.361A>T (p.Asn121Tyr)
19g.41414122A=CA2336455359BCKDHAc.449A= (p.Asn150=)
c.383A= (p.Asn128=)
n.575A=
c.551A= (p.Asn184=)
c.256A=
c.362A= (p.Asn121=)
19g.41414122A>CCA406008159BCKDHAc.449A>C (p.Asn150Thr)
c.383A>C (p.Asn128Thr)
n.575A>C
c.551A>C (p.Asn184Thr)
c.256A>C
c.362A>C (p.Asn121Thr)
19g.41414122A>GCA406008163BCKDHAc.449A>G (p.Asn150Ser)
c.383A>G (p.Asn128Ser)
n.575A>G
c.551A>G (p.Asn184Ser)
c.256A>G
c.362A>G (p.Asn121Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41414122A>TCA406008167BCKDHAc.449A>T (p.Asn150Ile)
c.383A>T (p.Asn128Ile)
n.575A>T
c.551A>T (p.Asn184Ile)
c.256A>T
c.362A>T (p.Asn121Ile)
19g.41414123C>ACA9461148BCKDHAc.450C>A (p.Asn150Lys)
c.384C>A (p.Asn128Lys)
n.576C>A
c.552C>A (p.Asn184Lys)
c.257C>A
c.363C>A (p.Asn121Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414123C=CA2336455360BCKDHAc.450C= (p.Asn150=)
c.384C= (p.Asn128=)
n.576C=
c.552C= (p.Asn184=)
c.257C=
c.363C= (p.Asn121=)
19g.41414123C>GCA9461149BCKDHAc.450C>G (p.Asn150Lys)
c.384C>G (p.Asn128Lys)
n.576C>G
c.552C>G (p.Asn184Lys)
c.257C>G
c.363C>G (p.Asn121Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414123C>TCA507557967BCKDHAc.450C>T (p.Asn150=)
c.384C>T (p.Asn128=)
n.576C>T
c.552C>T (p.Asn184=)
c.257C>T
c.363C>T (p.Asn121=)
19g.41414124A>CCA406008172BCKDHAc.451A>C (p.Thr151Pro)
c.385A>C (p.Thr129Pro)
n.577A>C
c.553A>C (p.Thr185Pro)
c.258A>C
c.364A>C (p.Thr122Pro)
19g.41414124A>GCA406008174BCKDHAc.451A>G (p.Thr151Ala)
c.385A>G (p.Thr129Ala)
n.577A>G
c.553A>G (p.Thr185Ala)
c.258A>G
c.364A>G (p.Thr122Ala)
19g.41414124A>TCA406008176BCKDHAc.451A>T (p.Thr151Ser)
c.385A>T (p.Thr129Ser)
n.577A>T
c.553A>T (p.Thr185Ser)
c.258A>T
c.364A>T (p.Thr122Ser)
19g.41414125C>ACA406008179BCKDHAc.452C>A (p.Thr151Lys)
c.386C>A (p.Thr129Lys)
n.578C>A
c.554C>A (p.Thr185Lys)
c.259C>A
c.365C>A (p.Thr122Lys)
19g.41414125C=CA2336455361BCKDHAc.452C= (p.Thr151=)
c.386C= (p.Thr129=)
n.578C=
c.554C= (p.Thr185=)
c.259C=
c.365C= (p.Thr122=)
19g.41414125C>GCA406008181BCKDHAc.452C>G (p.Thr151Arg)
c.386C>G (p.Thr129Arg)
n.578C>G
c.554C>G (p.Thr185Arg)
c.259C>G
c.365C>G (p.Thr122Arg)
19g.41414125C>TCA146875BCKDHAc.452C>T (p.Thr151Met)
c.386C>T (p.Thr129Met)
n.578C>T
c.554C>T (p.Thr185Met)
c.259C>T
c.365C>T (p.Thr122Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41414126G>ACA9461150BCKDHAc.453G>A (p.Thr151=)
c.387G>A (p.Thr129=)
n.579G>A
c.555G>A (p.Thr185=)
c.260G>A
c.366G>A (p.Thr122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414126G>CCA507557978BCKDHAc.453G>C (p.Thr151=)
c.387G>C (p.Thr129=)
n.579G>C
c.555G>C (p.Thr185=)
c.260G>C
c.366G>C (p.Thr122=)
19g.41414126G=CA2336455362BCKDHAc.453G= (p.Thr151=)
c.387G= (p.Thr129=)
n.579G=
c.555G= (p.Thr185=)
c.260G=
c.366G= (p.Thr122=)
19g.41414126G>TCA507557980BCKDHAc.453G>T (p.Thr151=)
c.387G>T (p.Thr129=)
n.579G>T
c.555G>T (p.Thr185=)
c.260G>T
c.366G>T (p.Thr122=)
19g.41414127G>ACA406008194BCKDHAc.454G>A (p.Asp152Asn)
c.388G>A (p.Asp130Asn)
n.580G>A
c.556G>A (p.Asp186Asn)
c.261G>A
c.367G>A (p.Asp123Asn)
 ClinVar dbSNP
19g.41414127G>CCA406008193BCKDHAc.454G>C (p.Asp152His)
c.388G>C (p.Asp130His)
n.580G>C
c.556G>C (p.Asp186His)
c.261G>C
c.367G>C (p.Asp123His)
19g.41414127G>TCA406008190BCKDHAc.454G>T (p.Asp152Tyr)
c.388G>T (p.Asp130Tyr)
n.580G>T
c.556G>T (p.Asp186Tyr)
c.261G>T
c.367G>T (p.Asp123Tyr)
19g.41414128A>CCA406008195BCKDHAc.455A>C (p.Asp152Ala)
c.389A>C (p.Asp130Ala)
n.581A>C
c.557A>C (p.Asp186Ala)
c.262A>C
c.368A>C (p.Asp123Ala)
19g.41414128A>GCA406008198BCKDHAc.455A>G (p.Asp152Gly)
c.389A>G (p.Asp130Gly)
n.581A>G
c.557A>G (p.Asp186Gly)
c.262A>G
c.368A>G (p.Asp123Gly)
19g.41414128A>TCA406008201BCKDHAc.455A>T (p.Asp152Val)
c.389A>T (p.Asp130Val)
n.581A>T
c.557A>T (p.Asp186Val)
c.262A>T
c.368A>T (p.Asp123Val)
19g.41414129C>ACA406008204BCKDHAc.456C>A (p.Asp152Glu)
c.390C>A (p.Asp130Glu)
n.582C>A
c.558C>A (p.Asp186Glu)
c.263C>A
c.369C>A (p.Asp123Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41414129C=CA2336455363BCKDHAc.456C= (p.Asp152=)
c.390C= (p.Asp130=)
n.582C=
c.558C= (p.Asp186=)
c.263C=
c.369C= (p.Asp123=)
19g.41414129C>GCA406008207BCKDHAc.456C>G (p.Asp152Glu)
c.390C>G (p.Asp130Glu)
n.582C>G
c.558C>G (p.Asp186Glu)
c.263C>G
c.369C>G (p.Asp123Glu)
 dbSNP
19g.41414129C>TCA507558004BCKDHAc.456C>T (p.Asp152=)
c.390C>T (p.Asp130=)
n.582C>T
c.558C>T (p.Asp186=)
c.263C>T
c.369C>T (p.Asp123=)
19g.41414130C>ACA406008211BCKDHAc.457C>A (p.Leu153Met)
c.391C>A (p.Leu131Met)
n.583C>A
c.559C>A (p.Leu187Met)
c.264C>A
c.370C>A (p.Leu124Met)
19g.41414130C>GCA406008214BCKDHAc.457C>G (p.Leu153Val)
c.391C>G (p.Leu131Val)
n.583C>G
c.559C>G (p.Leu187Val)
c.264C>G
c.370C>G (p.Leu124Val)
 gnomAD v4
19g.41414130C>TCA507558020BCKDHAc.457C>T (p.Leu153=)
c.391C>T (p.Leu131=)
n.583C>T
c.559C>T (p.Leu187=)
c.264C>T
c.370C>T (p.Leu124=)
19g.41414131T>ACA406008227BCKDHAc.458T>A (p.Leu153Gln)
c.392T>A (p.Leu131Gln)
n.584T>A
c.560T>A (p.Leu187Gln)
c.265T>A
c.371T>A (p.Leu124Gln)
 gnomAD v4
19g.41414131T>CCA406008230BCKDHAc.458T>C (p.Leu153Pro)
c.392T>C (p.Leu131Pro)
n.584T>C
c.560T>C (p.Leu187Pro)
c.265T>C
c.371T>C (p.Leu124Pro)
19g.41414131T>GCA406008233BCKDHAc.458T>G (p.Leu153Arg)
c.392T>G (p.Leu131Arg)
n.584T>G
c.560T>G (p.Leu187Arg)
c.265T>G
c.371T>G (p.Leu124Arg)
19g.41414132G>ACA507558028BCKDHAc.459G>A (p.Leu153=)
c.393G>A (p.Leu131=)
n.585G>A
c.561G>A (p.Leu187=)
c.266G>A
c.372G>A (p.Leu124=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41414132G>CCA507558030BCKDHAc.459G>C (p.Leu153=)
c.393G>C (p.Leu131=)
n.585G>C
c.561G>C (p.Leu187=)
c.266G>C
c.372G>C (p.Leu124=)
19g.41414132G=CA2336455364BCKDHAc.459G= (p.Leu153=)
c.393G= (p.Leu131=)
n.585G=
c.561G= (p.Leu187=)
c.266G=
c.372G= (p.Leu124=)
19g.41414132G>TCA507558032BCKDHAc.459G>T (p.Leu153=)
c.393G>T (p.Leu131=)
n.585G>T
c.561G>T (p.Leu187=)
c.266G>T
c.372G>T (p.Leu124=)
19g.41414133G>ACA406008237BCKDHAc.460G>A (p.Val154Met)
c.394G>A (p.Val132Met)
n.586G>A
c.562G>A (p.Val188Met)
c.267G>A
c.373G>A (p.Val125Met)
19g.41414133G>CCA406008240BCKDHAc.460G>C (p.Val154Leu)
c.394G>C (p.Val132Leu)
n.586G>C
c.562G>C (p.Val188Leu)
c.267G>C
c.373G>C (p.Val125Leu)
19g.41414133G>TCA406008243BCKDHAc.460G>T (p.Val154Leu)
c.394G>T (p.Val132Leu)
n.586G>T
c.562G>T (p.Val188Leu)
c.267G>T
c.373G>T (p.Val125Leu)
19g.41414134T>ACA406008254BCKDHAc.461T>A (p.Val154Glu)
c.395T>A (p.Val132Glu)
n.587T>A
c.563T>A (p.Val188Glu)
c.268T>A
c.374T>A (p.Val125Glu)
19g.41414134T>CCA406008262BCKDHAc.461T>C (p.Val154Ala)
c.395T>C (p.Val132Ala)
n.587T>C
c.563T>C (p.Val188Ala)
c.268T>C
c.374T>C (p.Val125Ala)
19g.41414134T>GCA406008251BCKDHAc.461T>G (p.Val154Gly)
c.395T>G (p.Val132Gly)
n.587T>G
c.563T>G (p.Val188Gly)
c.268T>G
c.374T>G (p.Val125Gly)
19g.41414135G>ACA507558044BCKDHAc.462G>A (p.Val154=)
c.396G>A (p.Val132=)
n.588G>A
c.564G>A (p.Val188=)
c.269G>A
c.375G>A (p.Val125=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41414135G>CCA507558047BCKDHAc.462G>C (p.Val154=)
c.396G>C (p.Val132=)
n.588G>C
c.564G>C (p.Val188=)
c.269G>C
c.375G>C (p.Val125=)
19g.41414135G=CA2336455365BCKDHAc.462G= (p.Val154=)
c.396G= (p.Val132=)
n.588G=
c.564G= (p.Val188=)
c.269G=
c.375G= (p.Val125=)
19g.41414135G>TCA507558049BCKDHAc.462G>T (p.Val154=)
c.396G>T (p.Val132=)
n.588G>T
c.564G>T (p.Val188=)
c.269G>T
c.375G>T (p.Val125=)
19g.41414136T>ACA406008265BCKDHAc.463T>A (p.Phe155Ile)
c.397T>A (p.Phe133Ile)
n.589T>A
c.565T>A (p.Phe189Ile)
c.270T>A
c.376T>A (p.Phe126Ile)
19g.41414136T>CCA406008270BCKDHAc.463T>C (p.Phe155Leu)
c.397T>C (p.Phe133Leu)
n.589T>C
c.565T>C (p.Phe189Leu)
c.270T>C
c.376T>C (p.Phe126Leu)
19g.41414136T>GCA406008268BCKDHAc.463T>G (p.Phe155Val)
c.397T>G (p.Phe133Val)
n.589T>G
c.565T>G (p.Phe189Val)
c.270T>G
c.376T>G (p.Phe126Val)
19g.41414137T>ACA406008276BCKDHAc.464T>A (p.Phe155Tyr)
c.398T>A (p.Phe133Tyr)
n.590T>A
c.566T>A (p.Phe189Tyr)
c.271T>A
c.377T>A (p.Phe126Tyr)
19g.41414137T>CCA406008278BCKDHAc.464T>C (p.Phe155Ser)
c.398T>C (p.Phe133Ser)
n.590T>C
c.566T>C (p.Phe189Ser)
c.271T>C
c.377T>C (p.Phe126Ser)
19g.41414137T>GCA406008280BCKDHAc.464T>G (p.Phe155Cys)
c.398T>G (p.Phe133Cys)
n.590T>G
c.566T>G (p.Phe189Cys)
c.271T>G
c.377T>G (p.Phe126Cys)
19g.41414138T>ACA308518056BCKDHAc.465T>A (p.Phe155Leu)
c.399T>A (p.Phe133Leu)
n.591T>A
c.567T>A (p.Phe189Leu)
c.272T>A
c.378T>A (p.Phe126Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.41414138T>CCA507558085BCKDHAc.465T>C (p.Phe155=)
c.399T>C (p.Phe133=)
n.591T>C
c.567T>C (p.Phe189=)
c.272T>C
c.378T>C (p.Phe126=)
19g.41414138T>GCA406008291BCKDHAc.465T>G (p.Phe155Leu)
c.399T>G (p.Phe133Leu)
n.591T>G
c.567T>G (p.Phe189Leu)
c.272T>G
c.378T>G (p.Phe126Leu)
19g.41414138T=CA2336455366BCKDHAc.465T= (p.Phe155=)
c.399T= (p.Phe133=)
n.591T=
c.567T= (p.Phe189=)
c.272T=
c.378T= (p.Phe126=)
19g.41414139G>ACA406008294BCKDHAc.466G>A (p.Gly156Ser)
c.400G>A (p.Gly134Ser)
n.592G>A
c.568G>A (p.Gly190Ser)
c.273G>A
c.379G>A (p.Gly127Ser)
19g.41414139G>CCA406008293BCKDHAc.466G>C (p.Gly156Arg)
c.400G>C (p.Gly134Arg)
n.592G>C
c.568G>C (p.Gly190Arg)
c.273G>C
c.379G>C (p.Gly127Arg)
19g.41414139G>TCA406008292BCKDHAc.466G>T (p.Gly156Cys)
c.400G>T (p.Gly134Cys)
n.592G>T
c.568G>T (p.Gly190Cys)
c.273G>T
c.379G>T (p.Gly127Cys)
19g.41414140G>ACA406008301BCKDHAc.467G>A (p.Gly156Asp)
c.401G>A (p.Gly134Asp)
n.593G>A
c.569G>A (p.Gly190Asp)
c.274G>A
c.380G>A (p.Gly127Asp)
 ClinVar dbSNP
19g.41414140G>CCA406008304BCKDHAc.467G>C (p.Gly156Ala)
c.401G>C (p.Gly134Ala)
n.593G>C
c.569G>C (p.Gly190Ala)
c.274G>C
c.380G>C (p.Gly127Ala)
19g.41414140G=CA2336455367BCKDHAc.467G= (p.Gly156=)
c.401G= (p.Gly134=)
n.593G=
c.569G= (p.Gly190=)
c.274G=
c.380G= (p.Gly127=)
19g.41414140G>TCA406008307BCKDHAc.467G>T (p.Gly156Val)
c.401G>T (p.Gly134Val)
n.593G>T
c.569G>T (p.Gly190Val)
c.274G>T
c.380G>T (p.Gly127Val)
19g.41414141C>ACA507558114BCKDHAc.468C>A (p.Gly156=)
c.402C>A (p.Gly134=)
n.594C>A
c.570C>A (p.Gly190=)
c.275C>A
c.381C>A (p.Gly127=)
19g.41414141C>GCA507558107BCKDHAc.468C>G (p.Gly156=)
c.402C>G (p.Gly134=)
n.594C>G
c.570C>G (p.Gly190=)
c.275C>G
c.381C>G (p.Gly127=)
19g.41414141C>TCA507558110BCKDHAc.468C>T (p.Gly156=)
c.402C>T (p.Gly134=)
n.594C>T
c.570C>T (p.Gly190=)
c.275C>T
c.381C>T (p.Gly127=)
19g.41414142C>ACA406008312BCKDHAc.469C>A (p.Gln157Lys)
c.403C>A (p.Gln135Lys)
n.595C>A
c.571C>A (p.Gln191Lys)
c.276C>A
c.382C>A (p.Gln128Lys)
19g.41414142C>GCA406008315BCKDHAc.469C>G (p.Gln157Glu)
c.403C>G (p.Gln135Glu)
n.595C>G
c.571C>G (p.Gln191Glu)
c.276C>G
c.382C>G (p.Gln128Glu)
19g.41414142C>TCA406008318BCKDHAc.469C>T (p.Gln157Ter)
c.403C>T (p.Gln135Ter)
n.595C>T
c.571C>T (p.Gln191Ter)
c.276C>T
c.382C>T (p.Gln128Ter)
 ClinVar gnomAD v4
19g.41414143A=CA2336455368BCKDHAc.470A= (p.Gln157=)
c.404A= (p.Gln135=)
n.596A=
c.572A= (p.Gln191=)
c.277A=
c.383A= (p.Gln128=)
19g.41414143A>CCA354926BCKDHAc.470A>C (p.Gln157Pro)
c.404A>C (p.Gln135Pro)
n.596A>C
c.572A>C (p.Gln191Pro)
c.277A>C
c.383A>C (p.Gln128Pro)
 ClinVar dbSNP
19g.41414143A>GCA406008323BCKDHAc.470A>G (p.Gln157Arg)
c.404A>G (p.Gln135Arg)
n.596A>G
c.572A>G (p.Gln191Arg)
c.277A>G
c.383A>G (p.Gln128Arg)
 COSMIC
19g.41414143A>TCA406008327BCKDHAc.470A>T (p.Gln157Leu)
c.404A>T (p.Gln135Leu)
n.596A>T
c.572A>T (p.Gln191Leu)
c.277A>T
c.383A>T (p.Gln128Leu)
19g.41414144G>ACA507558131BCKDHAc.471G>A (p.Gln157=)
c.405G>A (p.Gln135=)
n.597G>A
c.573G>A (p.Gln191=)
c.278G>A
c.384G>A (p.Gln128=)
 ClinVar gnomAD v4
19g.41414144G>CCA406008334BCKDHAc.471G>C (p.Gln157His)
c.405G>C (p.Gln135His)
n.597G>C
c.573G>C (p.Gln191His)
c.278G>C
c.384G>C (p.Gln128His)
19g.41414144G>TCA406008338BCKDHAc.471G>T (p.Gln157His)
c.405G>T (p.Gln135His)
n.597G>T
c.573G>T (p.Gln191His)
c.278G>T
c.384G>T (p.Gln128His)
19g.41414145T>ACA406008341BCKDHAc.472T>A (p.Tyr158Asn)
c.406T>A (p.Tyr136Asn)
n.598T>A
c.574T>A (p.Tyr192Asn)
c.279T>A
c.385T>A (p.Tyr129Asn)
19g.41414145T>CCA406008342BCKDHAc.472T>C (p.Tyr158His)
c.406T>C (p.Tyr136His)
n.598T>C
c.574T>C (p.Tyr192His)
c.279T>C
c.385T>C (p.Tyr129His)
19g.41414145T>GCA406008343BCKDHAc.472T>G (p.Tyr158Asp)
c.406T>G (p.Tyr136Asp)
n.598T>G
c.574T>G (p.Tyr192Asp)
c.279T>G
c.385T>G (p.Tyr129Asp)
19g.41414146A=CA2336455369BCKDHAc.473A= (p.Tyr158=)
c.407A= (p.Tyr136=)
n.599A=
c.575A= (p.Tyr192=)
c.280A=
c.386A= (p.Tyr129=)
19g.41414146A>CCA406008346BCKDHAc.473A>C (p.Tyr158Ser)
c.407A>C (p.Tyr136Ser)
n.599A>C
c.575A>C (p.Tyr192Ser)
c.280A>C
c.386A>C (p.Tyr129Ser)
19g.41414146A>GCA9461151BCKDHAc.473A>G (p.Tyr158Cys)
c.407A>G (p.Tyr136Cys)
n.599A>G
c.575A>G (p.Tyr192Cys)
c.280A>G
c.386A>G (p.Tyr129Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41414146A>TCA406008353BCKDHAc.473A>T (p.Tyr158Phe)
c.407A>T (p.Tyr136Phe)
n.599A>T
c.575A>T (p.Tyr192Phe)
c.280A>T
c.386A>T (p.Tyr129Phe)
19g.41414147C>ACA406008360BCKDHAc.474C>A (p.Tyr158Ter)
c.408C>A (p.Tyr136Ter)
n.600C>A
c.576C>A (p.Tyr192Ter)
c.281C>A
c.387C>A (p.Tyr129Ter)
19g.41414147C>GCA406008362BCKDHAc.474C>G (p.Tyr158Ter)
c.408C>G (p.Tyr136Ter)
n.600C>G
c.576C>G (p.Tyr192Ter)
c.281C>G
c.387C>G (p.Tyr129Ter)
19g.41414147C>TCA507558164BCKDHAc.474C>T (p.Tyr158=)
c.408C>T (p.Tyr136=)
n.600C>T
c.576C>T (p.Tyr192=)
c.281C>T
c.387C>T (p.Tyr129=)
19g.41414148C>ACA507558168BCKDHAc.475C>A (p.Arg159=)
c.409C>A (p.Arg137=)
n.601C>A
c.577C>A (p.Arg193=)
c.282C>A
c.388C>A (p.Arg130=)
19g.41414148C=CA2336455370BCKDHAc.475C= (p.Arg159=)
c.409C= (p.Arg137=)
n.601C=
c.577C= (p.Arg193=)
c.282C=
c.388C= (p.Arg130=)
19g.41414148C>GCA406008372BCKDHAc.475C>G (p.Arg159Gly)
c.409C>G (p.Arg137Gly)
n.601C>G
c.577C>G (p.Arg193Gly)
c.282C>G
c.388C>G (p.Arg130Gly)
19g.41414148C>TCA9461152BCKDHAc.475C>T (p.Arg159Trp)
c.409C>T (p.Arg137Trp)
n.601C>T
c.577C>T (p.Arg193Trp)
c.282C>T
c.388C>T (p.Arg130Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414149G>ACA354907BCKDHAc.476G>A (p.Arg159Gln)
c.410G>A (p.Arg137Gln)
n.602G>A
c.578G>A (p.Arg193Gln)
c.283G>A
c.389G>A (p.Arg130Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41414149G>CCA406008392BCKDHAc.476G>C (p.Arg159Pro)
c.410G>C (p.Arg137Pro)
n.602G>C
c.578G>C (p.Arg193Pro)
c.283G>C
c.389G>C (p.Arg130Pro)
19g.41414149G=CA2336455371BCKDHAc.476G= (p.Arg159=)
c.410G= (p.Arg137=)
n.602G=
c.578G= (p.Arg193=)
c.283G=
c.389G= (p.Arg130=)
19g.41414149G>TCA406008383BCKDHAc.476G>T (p.Arg159Leu)
c.410G>T (p.Arg137Leu)
n.602G>T
c.578G>T (p.Arg193Leu)
c.283G>T
c.389G>T (p.Arg130Leu)
19g.41414150G>ACA507558175BCKDHAc.477G>A (p.Arg159=)
c.411G>A (p.Arg137=)
n.603G>A
c.579G>A (p.Arg193=)
c.284G>A
c.390G>A (p.Arg130=)
 dbSNP gnomAD v2
19g.41414150G>CCA507558178BCKDHAc.477G>C (p.Arg159=)
c.411G>C (p.Arg137=)
n.603G>C
c.579G>C (p.Arg193=)
c.284G>C
c.390G>C (p.Arg130=)
19g.41414150G=CA2336455372BCKDHAc.477G= (p.Arg159=)
c.411G= (p.Arg137=)
n.603G=
c.579G= (p.Arg193=)
c.284G=
c.390G= (p.Arg130=)
19g.41414150G>TCA507558181BCKDHAc.477G>T (p.Arg159=)
c.411G>T (p.Arg137=)
n.603G>T
c.579G>T (p.Arg193=)
c.284G>T
c.390G>T (p.Arg130=)
19g.41414151G>ACA406008397BCKDHAc.478G>A (p.Glu160Lys)
c.412G>A (p.Glu138Lys)
n.604G>A
c.580G>A (p.Glu194Lys)
c.285G>A
c.391G>A (p.Glu131Lys)
 dbSNP
19g.41414151G>CCA406008404BCKDHAc.478G>C (p.Glu160Gln)
c.412G>C (p.Glu138Gln)
n.604G>C
c.580G>C (p.Glu194Gln)
c.285G>C
c.391G>C (p.Glu131Gln)
19g.41414151G=CA2336455373BCKDHAc.478G= (p.Glu160=)
c.412G= (p.Glu138=)
n.604G=
c.580G= (p.Glu194=)
c.285G=
c.391G= (p.Glu131=)
19g.41414151G>TCA406008408BCKDHAc.478G>T (p.Glu160Ter)
c.412G>T (p.Glu138Ter)
n.604G>T
c.580G>T (p.Glu194Ter)
c.285G>T
c.391G>T (p.Glu131Ter)
19g.41414152A>CCA406008412BCKDHAc.479A>C (p.Glu160Ala)
c.413A>C (p.Glu138Ala)
n.605A>C
c.581A>C (p.Glu194Ala)
c.286A>C
c.392A>C (p.Glu131Ala)
19g.41414152A>GCA406008414BCKDHAc.479A>G (p.Glu160Gly)
c.413A>G (p.Glu138Gly)
n.605A>G
c.581A>G (p.Glu194Gly)
c.286A>G
c.392A>G (p.Glu131Gly)
19g.41414152A>TCA406008417BCKDHAc.479A>T (p.Glu160Val)
c.413A>T (p.Glu138Val)
n.605A>T
c.581A>T (p.Glu194Val)
c.286A>T
c.392A>T (p.Glu131Val)
19g.41414153G>ACA507558182BCKDHAc.480G>A (p.Glu160=)
c.414G>A (p.Glu138=)
n.606G>A
c.582G>A (p.Glu194=)
c.287G>A
c.393G>A (p.Glu131=)
 dbSNP gnomAD v2 gnomAD v4
19g.41414153G>CCA406008421BCKDHAc.480G>C (p.Glu160Asp)
c.414G>C (p.Glu138Asp)
n.606G>C
c.582G>C (p.Glu194Asp)
c.287G>C
c.393G>C (p.Glu131Asp)
19g.41414153G=CA2336455374BCKDHAc.480G= (p.Glu160=)
c.414G= (p.Glu138=)
n.606G=
c.582G= (p.Glu194=)
c.287G=
c.393G= (p.Glu131=)
19g.41414153G>TCA406008426BCKDHAc.480G>T (p.Glu160Asp)
c.414G>T (p.Glu138Asp)
n.606G>T
c.582G>T (p.Glu194Asp)
c.287G>T
c.393G>T (p.Glu131Asp)
19g.41414154G>ACA406008431BCKDHAc.481G>A (p.Ala161Thr)
c.415G>A (p.Ala139Thr)
n.607G>A
c.583G>A (p.Ala195Thr)
c.288G>A
c.394G>A (p.Ala132Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.41414154G>CCA406008443BCKDHAc.481G>C (p.Ala161Pro)
c.415G>C (p.Ala139Pro)
n.607G>C
c.583G>C (p.Ala195Pro)
c.288G>C
c.394G>C (p.Ala132Pro)
19g.41414154G=CA2336455375BCKDHAc.481G= (p.Ala161=)
c.415G= (p.Ala139=)
n.607G=
c.583G= (p.Ala195=)
c.288G=
c.394G= (p.Ala132=)
19g.41414154G>TCA406008447BCKDHAc.481G>T (p.Ala161Ser)
c.415G>T (p.Ala139Ser)
n.607G>T
c.583G>T (p.Ala195Ser)
c.288G>T
c.394G>T (p.Ala132Ser)
19g.41414155C>ACA406008470BCKDHAc.482C>A (p.Ala161Glu)
c.416C>A (p.Ala139Glu)
n.608C>A
c.584C>A (p.Ala195Glu)
c.289C>A
c.395C>A (p.Ala132Glu)
19g.41414155C>GCA406008467BCKDHAc.482C>G (p.Ala161Gly)
c.416C>G (p.Ala139Gly)
n.608C>G
c.584C>G (p.Ala195Gly)
c.289C>G
c.395C>G (p.Ala132Gly)
19g.41414155C>TCA406008463BCKDHAc.482C>T (p.Ala161Val)
c.416C>T (p.Ala139Val)
n.608C>T
c.584C>T (p.Ala195Val)
c.289C>T
c.395C>T (p.Ala132Val)
19g.41414156A>CCA507558207BCKDHAc.483A>C (p.Ala161=)
c.417A>C (p.Ala139=)
n.609A>C
c.585A>C (p.Ala195=)
c.290A>C
c.396A>C (p.Ala132=)
19g.41414156A>GCA507558219BCKDHAc.483A>G (p.Ala161=)
c.417A>G (p.Ala139=)
n.609A>G
c.585A>G (p.Ala195=)
c.290A>G
c.396A>G (p.Ala132=)
19g.41414156A>TCA507558222BCKDHAc.483A>T (p.Ala161=)
c.417A>T (p.Ala139=)
n.609A>T
c.585A>T (p.Ala195=)
c.290A>T
c.396A>T (p.Ala132=)

Number of alleles fetched