Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410730A=CA2336453797BCKDHAc.202A= (p.Ile68=)
c.136A= (p.Ile46=)
n.222A=
c.304A= (p.Ile102=)
c.9A=
n.444A=
19g.41410730A>CCA406004733BCKDHAc.202A>C (p.Ile68Leu)
c.136A>C (p.Ile46Leu)
n.222A>C
c.304A>C (p.Ile102Leu)
c.9A>C
n.444A>C
19g.41410730A>GCA9461023BCKDHAc.202A>G (p.Ile68Val)
c.136A>G (p.Ile46Val)
n.222A>G
c.304A>G (p.Ile102Val)
c.9A>G
n.444A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410730A>TCA406004734BCKDHAc.202A>T (p.Ile68Phe)
c.136A>T (p.Ile46Phe)
n.222A>T
c.304A>T (p.Ile102Phe)
c.9A>T
n.444A>T
19g.41410731T>ACA9461024BCKDHAc.203T>A (p.Ile68Asn)
c.137T>A (p.Ile46Asn)
n.223T>A
c.305T>A (p.Ile102Asn)
c.10T>A
n.445T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410731T>CCA406004735BCKDHAc.203T>C (p.Ile68Thr)
c.137T>C (p.Ile46Thr)
n.223T>C
c.305T>C (p.Ile102Thr)
c.10T>C
n.445T>C
19g.41410731T>GCA406004736BCKDHAc.203T>G (p.Ile68Ser)
c.137T>G (p.Ile46Ser)
n.223T>G
c.305T>G (p.Ile102Ser)
c.10T>G
n.445T>G
19g.41410731T=CA2336453798BCKDHAc.203T= (p.Ile68=)
c.137T= (p.Ile46=)
n.223T=
c.305T= (p.Ile102=)
c.10T=
n.445T=
19g.41410732C>ACA507555433BCKDHAc.204C>A (p.Ile68=)
c.138C>A (p.Ile46=)
n.224C>A
c.306C>A (p.Ile102=)
c.11C>A
n.446C>A
 ClinVar dbSNP
19g.41410732C>GCA406004737BCKDHAc.204C>G (p.Ile68Met)
c.138C>G (p.Ile46Met)
n.224C>G
c.306C>G (p.Ile102Met)
c.11C>G
n.446C>G
19g.41410732C>TCA507555435BCKDHAc.204C>T (p.Ile68=)
c.138C>T (p.Ile46=)
n.224C>T
c.306C>T (p.Ile102=)
c.11C>T
n.446C>T
19g.41410733C>ACA406004738BCKDHAc.205C>A (p.Gln69Lys)
c.139C>A (p.Gln47Lys)
n.225C>A
c.307C>A (p.Gln103Lys)
c.12C>A
n.447C>A
19g.41410733C>GCA406004739BCKDHAc.205C>G (p.Gln69Glu)
c.139C>G (p.Gln47Glu)
n.225C>G
c.307C>G (p.Gln103Glu)
c.12C>G
n.447C>G
19g.41410733C>TCA406004740BCKDHAc.205C>T (p.Gln69Ter)
c.139C>T (p.Gln47Ter)
n.225C>T
c.307C>T (p.Gln103Ter)
c.12C>T
n.447C>T
19g.41410734A>CCA406004741BCKDHAc.206A>C (p.Gln69Pro)
c.140A>C (p.Gln47Pro)
n.226A>C
c.308A>C (p.Gln103Pro)
c.13A>C
n.448A>C
19g.41410734A>GCA406004742BCKDHAc.206A>G (p.Gln69Arg)
c.140A>G (p.Gln47Arg)
n.226A>G
c.308A>G (p.Gln103Arg)
c.13A>G
n.448A>G
19g.41410734A>TCA406004743BCKDHAc.206A>T (p.Gln69Leu)
c.140A>T (p.Gln47Leu)
n.226A>T
c.308A>T (p.Gln103Leu)
c.13A>T
n.448A>T
19g.41410735G>ACA507555440BCKDHAc.207G>A (p.Gln69=)
c.141G>A (p.Gln47=)
n.227G>A
c.309G>A (p.Gln103=)
c.14G>A
n.449G>A
19g.41410735G>CCA406004744BCKDHAc.207G>C (p.Gln69His)
c.141G>C (p.Gln47His)
n.227G>C
c.309G>C (p.Gln103His)
c.14G>C
n.449G>C
19g.41410735G>TCA406004745BCKDHAc.207G>T (p.Gln69His)
c.141G>T (p.Gln47His)
n.227G>T
c.309G>T (p.Gln103His)
c.14G>T
n.449G>T
19g.41410735_41410736delinsGCCA2336453799BCKDHAc.207_208delinsGC (p.Gln69=)
c.141_142delinsGC (p.Gln47=)
n.227_228delinsGC
c.309_310delinsGC (p.Gln103=)
c.14_15delinsGC
n.449_450delinsGC
19g.41410736C>ACA406004746BCKDHAc.208C>A (p.Pro70Thr)
c.142C>A (p.Pro48Thr)
n.228C>A
c.310C>A (p.Pro104Thr)
c.15C>A
n.450C>A
19g.41410736C=CA2336453800BCKDHAc.208C= (p.Pro70=)
c.142C= (p.Pro48=)
n.228C=
c.310C= (p.Pro104=)
c.15C=
n.450C=
19g.41410736C>GCA406004747BCKDHAc.208C>G (p.Pro70Ala)
c.142C>G (p.Pro48Ala)
n.228C>G
c.310C>G (p.Pro104Ala)
c.15C>G
n.450C>G
19g.41410736C>TCA9461025BCKDHAc.208C>T (p.Pro70Ser)
c.142C>T (p.Pro48Ser)
n.228C>T
c.310C>T (p.Pro104Ser)
c.15C>T
n.450C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410738delCA633470450BCKDHAc.210del (p.Asn71ThrfsTer?)
c.144del (p.Asn49ThrfsTer?)
n.230del
c.312del (p.Asn105ThrfsTer?)
c.17del
n.452del
 dbSNP gnomAD v2 gnomAD v4
19g.41410737C>ACA406004748BCKDHAc.209C>A (p.Pro70His)
c.143C>A (p.Pro48His)
n.229C>A
c.311C>A (p.Pro104His)
c.16C>A
n.451C>A
19g.41410737C>GCA406004749BCKDHAc.209C>G (p.Pro70Arg)
c.143C>G (p.Pro48Arg)
n.229C>G
c.311C>G (p.Pro104Arg)
c.16C>G
n.451C>G
19g.41410737C>TCA406004750BCKDHAc.209C>T (p.Pro70Leu)
c.143C>T (p.Pro48Leu)
n.229C>T
c.311C>T (p.Pro104Leu)
c.16C>T
n.451C>T
19g.41410738C>ACA507555442BCKDHAc.210C>A (p.Pro70=)
c.144C>A (p.Pro48=)
n.230C>A
c.312C>A (p.Pro104=)
c.17C>A
n.452C>A
 gnomAD v4
19g.41410738C>GCA507555444BCKDHAc.210C>G (p.Pro70=)
c.144C>G (p.Pro48=)
n.230C>G
c.312C>G (p.Pro104=)
c.17C>G
n.452C>G
19g.41410738C>TCA507555445BCKDHAc.210C>T (p.Pro70=)
c.144C>T (p.Pro48=)
n.230C>T
c.312C>T (p.Pro104=)
c.17C>T
n.452C>T
 ClinVar
19g.41410739A>CCA406004751BCKDHAc.211A>C (p.Asn71His)
c.145A>C (p.Asn49His)
n.231A>C
c.313A>C (p.Asn105His)
c.18A>C
n.453A>C
19g.41410739A>GCA406004752BCKDHAc.211A>G (p.Asn71Asp)
c.145A>G (p.Asn49Asp)
n.231A>G
c.313A>G (p.Asn105Asp)
c.18A>G
n.453A>G
19g.41410739A>TCA406004753BCKDHAc.211A>T (p.Asn71Tyr)
c.145A>T (p.Asn49Tyr)
n.231A>T
c.313A>T (p.Asn105Tyr)
c.18A>T
n.453A>T
19g.41410740A=CA2336453801BCKDHAc.212A= (p.Asn71=)
c.146A= (p.Asn49=)
n.232A=
c.314A= (p.Asn105=)
c.19A=
n.454A=
19g.41410740A>CCA406004754BCKDHAc.212A>C (p.Asn71Thr)
c.146A>C (p.Asn49Thr)
n.232A>C
c.314A>C (p.Asn105Thr)
c.19A>C
n.454A>C
19g.41410740A>GCA9461026BCKDHAc.212A>G (p.Asn71Ser)
c.146A>G (p.Asn49Ser)
n.232A>G
c.314A>G (p.Asn105Ser)
c.19A>G
n.454A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410740A>TCA406004755BCKDHAc.212A>T (p.Asn71Ile)
c.146A>T (p.Asn49Ile)
n.232A>T
c.314A>T (p.Asn105Ile)
c.19A>T
n.454A>T
19g.41410741C>ACA406004756BCKDHAc.213C>A (p.Asn71Lys)
c.147C>A (p.Asn49Lys)
n.233C>A
c.315C>A (p.Asn105Lys)
c.20C>A
n.455C>A
19g.41410741C=CA2336453802BCKDHAc.213C= (p.Asn71=)
c.147C= (p.Asn49=)
n.233C=
c.315C= (p.Asn105=)
c.20C=
n.455C=
19g.41410741C>GCA406004757BCKDHAc.213C>G (p.Asn71Lys)
c.147C>G (p.Asn49Lys)
n.233C>G
c.315C>G (p.Asn105Lys)
c.20C>G
n.455C>G
19g.41410741C>TCA9461027BCKDHAc.213C>T (p.Asn71=)
c.147C>T (p.Asn49=)
n.233C>T
c.315C>T (p.Asn105=)
c.20C>T
n.455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410742G>ACA9461028BCKDHAc.214G>A (p.Val72Ile)
c.148G>A (p.Val50Ile)
n.234G>A
c.316G>A (p.Val106Ile)
c.21G>A
n.456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410742G>CCA406004758BCKDHAc.214G>C (p.Val72Leu)
c.148G>C (p.Val50Leu)
n.234G>C
c.316G>C (p.Val106Leu)
c.21G>C
n.456G>C
19g.41410742G=CA2336453803BCKDHAc.214G= (p.Val72=)
c.148G= (p.Val50=)
n.234G=
c.316G= (p.Val106=)
c.21G=
n.456G=
19g.41410742G>TCA406004759BCKDHAc.214G>T (p.Val72Phe)
c.148G>T (p.Val50Phe)
n.234G>T
c.316G>T (p.Val106Phe)
c.21G>T
n.456G>T
19g.41410743T>ACA406004760BCKDHAc.215T>A (p.Val72Asp)
c.149T>A (p.Val50Asp)
n.235T>A
c.317T>A (p.Val106Asp)
c.22T>A
n.457T>A
19g.41410743T>CCA406004761BCKDHAc.215T>C (p.Val72Ala)
c.149T>C (p.Val50Ala)
n.235T>C
c.317T>C (p.Val106Ala)
c.22T>C
n.457T>C
19g.41410743T>GCA406004762BCKDHAc.215T>G (p.Val72Gly)
c.149T>G (p.Val50Gly)
n.235T>G
c.317T>G (p.Val106Gly)
c.22T>G
n.457T>G
19g.41410744C>ACA507555454BCKDHAc.216C>A (p.Val72=)
c.150C>A (p.Val50=)
n.236C>A
c.318C>A (p.Val106=)
c.23C>A
n.458C>A
19g.41410744C>GCA507555453BCKDHAc.216C>G (p.Val72=)
c.150C>G (p.Val50=)
n.236C>G
c.318C>G (p.Val106=)
c.23C>G
n.458C>G
 ClinVar
19g.41410744C>TCA507555452BCKDHAc.216C>T (p.Val72=)
c.150C>T (p.Val50=)
n.236C>T
c.318C>T (p.Val106=)
c.23C>T
n.458C>T
19g.41410745A=CA2336453804BCKDHAc.217A= (p.Ile73=)
c.151A= (p.Ile51=)
n.237A=
c.319A= (p.Ile107=)
c.24A=
n.459A=
19g.41410745A>CCA406004763BCKDHAc.217A>C (p.Ile73Leu)
c.151A>C (p.Ile51Leu)
n.237A>C
c.319A>C (p.Ile107Leu)
c.24A>C
n.459A>C
19g.41410745A>GCA9461029BCKDHAc.217A>G (p.Ile73Val)
c.151A>G (p.Ile51Val)
n.237A>G
c.319A>G (p.Ile107Val)
c.24A>G
n.459A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410745A>TCA406004764BCKDHAc.217A>T (p.Ile73Phe)
c.151A>T (p.Ile51Phe)
n.237A>T
c.319A>T (p.Ile107Phe)
c.24A>T
n.459A>T
 dbSNP gnomAD v3 gnomAD v4
19g.41410746T>ACA406004765BCKDHAc.218T>A (p.Ile73Asn)
c.152T>A (p.Ile51Asn)
n.238T>A
c.320T>A (p.Ile107Asn)
c.25T>A
n.460T>A
19g.41410746T>CCA406004766BCKDHAc.218T>C (p.Ile73Thr)
c.152T>C (p.Ile51Thr)
n.238T>C
c.320T>C (p.Ile107Thr)
c.25T>C
n.460T>C
19g.41410746T>GCA406004767BCKDHAc.218T>G (p.Ile73Ser)
c.152T>G (p.Ile51Ser)
n.238T>G
c.320T>G (p.Ile107Ser)
c.25T>G
n.460T>G
19g.41410747C>ACA507555459BCKDHAc.219C>A (p.Ile73=)
c.153C>A (p.Ile51=)
n.239C>A
c.321C>A (p.Ile107=)
c.26C>A
n.461C>A
19g.41410747C>GCA406004768BCKDHAc.219C>G (p.Ile73Met)
c.153C>G (p.Ile51Met)
n.239C>G
c.321C>G (p.Ile107Met)
c.26C>G
n.461C>G
 gnomAD v4
19g.41410747C>TCA507555461BCKDHAc.219C>T (p.Ile73=)
c.153C>T (p.Ile51=)
n.239C>T
c.321C>T (p.Ile107=)
c.26C>T
n.461C>T
 gnomAD v4
19g.41410748T>ACA406004771BCKDHAc.220T>A (p.Ser74Thr)
c.154T>A (p.Ser52Thr)
n.240T>A
c.322T>A (p.Ser108Thr)
c.27T>A
n.462T>A
19g.41410748T>CCA406004770BCKDHAc.220T>C (p.Ser74Pro)
c.154T>C (p.Ser52Pro)
n.240T>C
c.322T>C (p.Ser108Pro)
c.27T>C
n.462T>C
19g.41410748T>GCA406004769BCKDHAc.220T>G (p.Ser74Ala)
c.154T>G (p.Ser52Ala)
n.240T>G
c.322T>G (p.Ser108Ala)
c.27T>G
n.462T>G
19g.41410749C>ACA406004772BCKDHAc.221C>A (p.Ser74Tyr)
c.155C>A (p.Ser52Tyr)
n.241C>A
c.323C>A (p.Ser108Tyr)
c.28C>A
n.463C>A
19g.41410749C>GCA406004773BCKDHAc.221C>G (p.Ser74Cys)
c.155C>G (p.Ser52Cys)
n.241C>G
c.323C>G (p.Ser108Cys)
c.28C>G
n.463C>G
19g.41410749C>TCA406004774BCKDHAc.221C>T (p.Ser74Phe)
c.155C>T (p.Ser52Phe)
n.241C>T
c.323C>T (p.Ser108Phe)
c.28C>T
n.463C>T
 COSMIC
19g.41410750T>ACA507555463BCKDHAc.222T>A (p.Ser74=)
c.156T>A (p.Ser52=)
n.242T>A
c.324T>A (p.Ser108=)
c.29T>A
n.464T>A
19g.41410750T>CCA507555464BCKDHAc.222T>C (p.Ser74=)
c.156T>C (p.Ser52=)
n.242T>C
c.324T>C (p.Ser108=)
c.29T>C
n.464T>C
 dbSNP gnomAD v4
19g.41410750T>GCA507555465BCKDHAc.222T>G (p.Ser74=)
c.156T>G (p.Ser52=)
n.242T>G
c.324T>G (p.Ser108=)
c.29T>G
n.464T>G
 ClinVar
19g.41410750T=CA2336453805BCKDHAc.222T= (p.Ser74=)
c.156T= (p.Ser52=)
n.242T=
c.324T= (p.Ser108=)
c.29T=
n.464T=
19g.41410751G>ACA308515340BCKDHAc.223G>A (p.Gly75Arg)
c.157G>A (p.Gly53Arg)
n.243G>A
c.325G>A (p.Gly109Arg)
c.30G>A
n.465G>A
 dbSNP gnomAD v4
19g.41410751G>CCA406004775BCKDHAc.223G>C (p.Gly75Arg)
c.157G>C (p.Gly53Arg)
n.243G>C
c.325G>C (p.Gly109Arg)
c.30G>C
n.465G>C
19g.41410751G=CA2336453806BCKDHAc.223G= (p.Gly75=)
c.157G= (p.Gly53=)
n.243G=
c.325G= (p.Gly109=)
c.30G=
n.465G=
19g.41410751G>TCA406004776BCKDHAc.223G>T (p.Gly75Ter)
c.157G>T (p.Gly53Ter)
n.243G>T
c.325G>T (p.Gly109Ter)
c.30G>T
n.465G>T
19g.41410752G>ACA406004777BCKDHAc.224G>A (p.Gly75Glu)
c.158G>A (p.Gly53Glu)
n.244G>A
c.326G>A (p.Gly109Glu)
c.31G>A
n.466G>A
19g.41410752G>CCA406004778BCKDHAc.224G>C (p.Gly75Ala)
c.158G>C (p.Gly53Ala)
n.244G>C
c.326G>C (p.Gly109Ala)
c.31G>C
n.466G>C
19g.41410752G>TCA406004779BCKDHAc.224G>T (p.Gly75Val)
c.158G>T (p.Gly53Val)
n.244G>T
c.326G>T (p.Gly109Val)
c.31G>T
n.466G>T
19g.41410753A=CA2336453807BCKDHAc.225A= (p.Gly75=)
c.159A= (p.Gly53=)
n.245A=
c.327A= (p.Gly109=)
c.32A=
n.467A=
19g.41410753A>CCA507555468BCKDHAc.225A>C (p.Gly75=)
c.159A>C (p.Gly53=)
n.245A>C
c.327A>C (p.Gly109=)
c.32A>C
n.467A>C
 dbSNP
19g.41410753A>GCA507555469BCKDHAc.225A>G (p.Gly75=)
c.159A>G (p.Gly53=)
n.245A>G
c.327A>G (p.Gly109=)
c.32A>G
n.467A>G
19g.41410753A>TCA507555472BCKDHAc.225A>T (p.Gly75=)
c.159A>T (p.Gly53=)
n.245A>T
c.327A>T (p.Gly109=)
c.32A>T
n.467A>T
19g.41410754A=CA2336453808BCKDHAc.226A= (p.Ile76=)
c.160A= (p.Ile54=)
n.246A=
c.328A= (p.Ile110=)
c.33A=
n.468A=
19g.41410754A>CCA406004780BCKDHAc.226A>C (p.Ile76Leu)
c.160A>C (p.Ile54Leu)
n.246A>C
c.328A>C (p.Ile110Leu)
c.33A>C
n.468A>C
19g.41410754A>GCA406004781BCKDHAc.226A>G (p.Ile76Val)
c.160A>G (p.Ile54Val)
n.246A>G
c.328A>G (p.Ile110Val)
c.33A>G
n.468A>G
 dbSNP gnomAD v3 gnomAD v4
19g.41410754A>TCA406004782BCKDHAc.226A>T (p.Ile76Phe)
c.160A>T (p.Ile54Phe)
n.246A>T
c.328A>T (p.Ile110Phe)
c.33A>T
n.468A>T
19g.41410755T>ACA406004785BCKDHAc.227T>A (p.Ile76Asn)
c.161T>A (p.Ile54Asn)
n.247T>A
c.329T>A (p.Ile110Asn)
c.34T>A
n.469T>A
19g.41410755T>CCA406004784BCKDHAc.227T>C (p.Ile76Thr)
c.161T>C (p.Ile54Thr)
n.247T>C
c.329T>C (p.Ile110Thr)
c.34T>C
n.469T>C
19g.41410755T>GCA406004783BCKDHAc.227T>G (p.Ile76Ser)
c.161T>G (p.Ile54Ser)
n.247T>G
c.329T>G (p.Ile110Ser)
c.34T>G
n.469T>G
19g.41410756C>ACA507555475BCKDHAc.228C>A (p.Ile76=)
c.162C>A (p.Ile54=)
n.248C>A
c.330C>A (p.Ile110=)
c.35C>A
n.470C>A
19g.41410756C>GCA406004786BCKDHAc.228C>G (p.Ile76Met)
c.162C>G (p.Ile54Met)
n.248C>G
c.330C>G (p.Ile110Met)
c.35C>G
n.470C>G
19g.41410756C>TCA507555477BCKDHAc.228C>T (p.Ile76=)
c.162C>T (p.Ile54=)
n.248C>T
c.330C>T (p.Ile110=)
c.35C>T
n.470C>T
 ClinVar
19g.41410757C>ACA406004787BCKDHAc.229C>A (p.Pro77Thr)
c.163C>A (p.Pro55Thr)
n.249C>A
c.331C>A (p.Pro111Thr)
c.36C>A
n.471C>A
19g.41410757C>GCA406004789BCKDHAc.229C>G (p.Pro77Ala)
c.163C>G (p.Pro55Ala)
n.249C>G
c.331C>G (p.Pro111Ala)
c.36C>G
n.471C>G
19g.41410757C>TCA406004791BCKDHAc.229C>T (p.Pro77Ser)
c.163C>T (p.Pro55Ser)
n.249C>T
c.331C>T (p.Pro111Ser)
c.36C>T
n.471C>T
19g.41410758C>ACA406004792BCKDHAc.230C>A (p.Pro77His)
c.164C>A (p.Pro55His)
n.250C>A
c.332C>A (p.Pro111His)
c.37C>A
n.472C>A
19g.41410758C>GCA406004795BCKDHAc.230C>G (p.Pro77Arg)
c.164C>G (p.Pro55Arg)
n.250C>G
c.332C>G (p.Pro111Arg)
c.37C>G
n.472C>G
19g.41410758C>TCA406004797BCKDHAc.230C>T (p.Pro77Leu)
c.164C>T (p.Pro55Leu)
n.250C>T
c.332C>T (p.Pro111Leu)
c.37C>T
n.472C>T
 gnomAD v4
19g.41410759C>ACA507555480BCKDHAc.231C>A (p.Pro77=)
c.165C>A (p.Pro55=)
n.251C>A
c.333C>A (p.Pro111=)
c.38C>A
n.473C>A
 ClinVar
19g.41410759C>GCA507555481BCKDHAc.231C>G (p.Pro77=)
c.165C>G (p.Pro55=)
n.251C>G
c.333C>G (p.Pro111=)
c.38C>G
n.473C>G
 ClinVar dbSNP
19g.41410759C>TCA507555482BCKDHAc.231C>T (p.Pro77=)
c.165C>T (p.Pro55=)
n.251C>T
c.333C>T (p.Pro111=)
c.38C>T
n.473C>T
19g.41410760A=CA2336453809BCKDHAc.232A= (p.Ile78=)
c.166A= (p.Ile56=)
n.252A=
c.334A= (p.Ile112=)
c.39A=
n.474A=
19g.41410760A>CCA406004800BCKDHAc.232A>C (p.Ile78Leu)
c.166A>C (p.Ile56Leu)
n.252A>C
c.334A>C (p.Ile112Leu)
c.39A>C
n.474A>C
19g.41410760A>GCA406004804BCKDHAc.232A>G (p.Ile78Val)
c.166A>G (p.Ile56Val)
n.252A>G
c.334A>G (p.Ile112Val)
c.39A>G
n.474A>G
 dbSNP gnomAD v4
19g.41410760A>TCA406004802BCKDHAc.232A>T (p.Ile78Phe)
c.166A>T (p.Ile56Phe)
n.252A>T
c.334A>T (p.Ile112Phe)
c.39A>T
n.474A>T
19g.41410761T>ACA406004807BCKDHAc.233T>A (p.Ile78Asn)
c.167T>A (p.Ile56Asn)
n.253T>A
c.335T>A (p.Ile112Asn)
c.40T>A
n.475T>A
19g.41410761T>CCA406004809BCKDHAc.233T>C (p.Ile78Thr)
c.167T>C (p.Ile56Thr)
n.253T>C
c.335T>C (p.Ile112Thr)
c.40T>C
n.475T>C
19g.41410761T>GCA406004811BCKDHAc.233T>G (p.Ile78Ser)
c.167T>G (p.Ile56Ser)
n.253T>G
c.335T>G (p.Ile112Ser)
c.40T>G
n.475T>G
19g.41410762C>ACA507555486BCKDHAc.234C>A (p.Ile78=)
c.168C>A (p.Ile56=)
n.254C>A
c.336C>A (p.Ile112=)
c.41C>A
n.476C>A
19g.41410762C>GCA406004813BCKDHAc.234C>G (p.Ile78Met)
c.168C>G (p.Ile56Met)
n.254C>G
c.336C>G (p.Ile112Met)
c.41C>G
n.476C>G
19g.41410762C>TCA507555487BCKDHAc.234C>T (p.Ile78=)
c.168C>T (p.Ile56=)
n.254C>T
c.336C>T (p.Ile112=)
c.41C>T
n.476C>T
19g.41410763T>ACA406004821BCKDHAc.235T>A (p.Tyr79Asn)
c.169T>A (p.Tyr57Asn)
n.255T>A
c.337T>A (p.Tyr113Asn)
c.42T>A
n.477T>A
19g.41410763T>CCA406004816BCKDHAc.235T>C (p.Tyr79His)
c.169T>C (p.Tyr57His)
n.255T>C
c.337T>C (p.Tyr113His)
c.42T>C
n.477T>C
19g.41410763T>GCA406004819BCKDHAc.235T>G (p.Tyr79Asp)
c.169T>G (p.Tyr57Asp)
n.255T>G
c.337T>G (p.Tyr113Asp)
c.42T>G
n.477T>G
19g.41410764A>CCA406004824BCKDHAc.236A>C (p.Tyr79Ser)
c.170A>C (p.Tyr57Ser)
n.256A>C
c.338A>C (p.Tyr113Ser)
c.43A>C
n.478A>C
19g.41410764A>GCA406004826BCKDHAc.236A>G (p.Tyr79Cys)
c.170A>G (p.Tyr57Cys)
n.256A>G
c.338A>G (p.Tyr113Cys)
c.43A>G
n.478A>G
19g.41410764A>TCA406004828BCKDHAc.236A>T (p.Tyr79Phe)
c.170A>T (p.Tyr57Phe)
n.256A>T
c.338A>T (p.Tyr113Phe)
c.43A>T
n.478A>T
19g.41410765C>ACA406004830BCKDHAc.237C>A (p.Tyr79Ter)
c.171C>A (p.Tyr57Ter)
n.257C>A
c.339C>A (p.Tyr113Ter)
c.44C>A
n.479C>A
19g.41410765C>GCA406004832BCKDHAc.237C>G (p.Tyr79Ter)
c.171C>G (p.Tyr57Ter)
n.257C>G
c.339C>G (p.Tyr113Ter)
c.44C>G
n.479C>G
19g.41410765C>TCA507555492BCKDHAc.237C>T (p.Tyr79=)
c.171C>T (p.Tyr57=)
n.257C>T
c.339C>T (p.Tyr113=)
c.44C>T
n.479C>T
19g.41410766C>ACA406004835BCKDHAc.238C>A (p.Arg80Ser)
c.172C>A (p.Arg58Ser)
n.258C>A
c.340C>A (p.Arg114Ser)
c.45C>A
n.480C>A
19g.41410766C=CA2336453810BCKDHAc.238C= (p.Arg80=)
c.172C= (p.Arg58=)
n.258C=
c.340C= (p.Arg114=)
c.45C=
n.480C=
19g.41410766C>GCA406004837BCKDHAc.238C>G (p.Arg80Gly)
c.172C>G (p.Arg58Gly)
n.258C>G
c.340C>G (p.Arg114Gly)
c.45C>G
n.480C>G
19g.41410766C>TCA9461030BCKDHAc.238C>T (p.Arg80Cys)
c.172C>T (p.Arg58Cys)
n.258C>T
c.340C>T (p.Arg114Cys)
c.45C>T
n.480C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410767G>ACA9461031BCKDHAc.239G>A (p.Arg80His)
c.173G>A (p.Arg58His)
n.259G>A
c.341G>A (p.Arg114His)
c.46G>A
n.481G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410767G>CCA406004842BCKDHAc.239G>C (p.Arg80Pro)
c.173G>C (p.Arg58Pro)
n.259G>C
c.341G>C (p.Arg114Pro)
c.46G>C
n.481G>C
19g.41410767G=CA2336453811BCKDHAc.239G= (p.Arg80=)
c.173G= (p.Arg58=)
n.259G=
c.341G= (p.Arg114=)
c.46G=
n.481G=
19g.41410767G>TCA406004844BCKDHAc.239G>T (p.Arg80Leu)
c.173G>T (p.Arg58Leu)
n.259G>T
c.341G>T (p.Arg114Leu)
c.46G>T
n.481G>T
19g.41410768C>ACA507555498BCKDHAc.240C>A (p.Arg80=)
c.174C>A (p.Arg58=)
n.260C>A
c.342C>A (p.Arg114=)
c.47C>A
n.482C>A
19g.41410768C=CA2336453812BCKDHAc.240C= (p.Arg80=)
c.174C= (p.Arg58=)
n.260C=
c.342C= (p.Arg114=)
c.47C=
n.482C=
19g.41410768C>GCA507555499BCKDHAc.240C>G (p.Arg80=)
c.174C>G (p.Arg58=)
n.260C>G
c.342C>G (p.Arg114=)
c.47C>G
n.482C>G
19g.41410768C>TCA9461032BCKDHAc.240C>T (p.Arg80=)
c.174C>T (p.Arg58=)
n.260C>T
c.342C>T (p.Arg114=)
c.47C>T
n.482C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410769G>ACA9461033BCKDHAc.241G>A (p.Val81Ile)
c.175G>A (p.Val59Ile)
n.261G>A
c.343G>A (p.Val115Ile)
c.48G>A
n.483G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410769G>CCA406004853BCKDHAc.241G>C (p.Val81Leu)
c.175G>C (p.Val59Leu)
n.261G>C
c.343G>C (p.Val115Leu)
c.48G>C
n.483G>C
19g.41410769G=CA2336453813BCKDHAc.241G= (p.Val81=)
c.175G= (p.Val59=)
n.261G=
c.343G= (p.Val115=)
c.48G=
n.483G=
19g.41410769G>TCA406004851BCKDHAc.241G>T (p.Val81Phe)
c.175G>T (p.Val59Phe)
n.261G>T
c.343G>T (p.Val115Phe)
c.48G>T
n.483G>T
19g.41410770T>ACA406004856BCKDHAc.242T>A (p.Val81Asp)
c.176T>A (p.Val59Asp)
n.262T>A
c.344T>A (p.Val115Asp)
c.49T>A
n.484T>A
19g.41410770T>CCA406004859BCKDHAc.242T>C (p.Val81Ala)
c.176T>C (p.Val59Ala)
n.262T>C
c.344T>C (p.Val115Ala)
c.49T>C
n.484T>C
19g.41410770T>GCA406004860BCKDHAc.242T>G (p.Val81Gly)
c.176T>G (p.Val59Gly)
n.262T>G
c.344T>G (p.Val115Gly)
c.49T>G
n.484T>G
19g.41410771C>ACA507555506BCKDHAc.243C>A (p.Val81=)
c.177C>A (p.Val59=)
n.263C>A
c.345C>A (p.Val115=)
c.50C>A
n.485C>A
 ClinVar dbSNP
19g.41410771C>GCA507555509BCKDHAc.243C>G (p.Val81=)
c.177C>G (p.Val59=)
n.263C>G
c.345C>G (p.Val115=)
c.50C>G
n.485C>G
19g.41410771C>TCA507555508BCKDHAc.243C>T (p.Val81=)
c.177C>T (p.Val59=)
n.263C>T
c.345C>T (p.Val115=)
c.50C>T
n.485C>T
19g.41410772A=CA2336453814BCKDHAc.244A= (p.Met82=)
c.178A= (p.Met60=)
n.264A=
c.346A= (p.Met116=)
c.51A=
n.486A=
19g.41410772A>CCA308515378BCKDHAc.244A>C (p.Met82Leu)
c.178A>C (p.Met60Leu)
n.264A>C
c.346A>C (p.Met116Leu)
c.51A>C
n.486A>C
 dbSNP
19g.41410772A>GCA406004865BCKDHAc.244A>G (p.Met82Val)
c.178A>G (p.Met60Val)
n.264A>G
c.346A>G (p.Met116Val)
c.51A>G
n.486A>G
19g.41410772A>TCA406004867BCKDHAc.244A>T (p.Met82Leu)
c.178A>T (p.Met60Leu)
n.264A>T
c.346A>T (p.Met116Leu)
c.51A>T
n.486A>T
19g.41410773T>ACA406004870BCKDHAc.245T>A (p.Met82Lys)
c.179T>A (p.Met60Lys)
n.265T>A
c.347T>A (p.Met116Lys)
c.52T>A
n.487T>A
19g.41410773T>CCA9461034BCKDHAc.245T>C (p.Met82Thr)
c.179T>C (p.Met60Thr)
n.265T>C
c.347T>C (p.Met116Thr)
c.52T>C
n.487T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410773T>GCA406004873BCKDHAc.245T>G (p.Met82Arg)
c.179T>G (p.Met60Arg)
n.265T>G
c.347T>G (p.Met116Arg)
c.52T>G
n.487T>G
19g.41410773T=CA2336453815BCKDHAc.245T= (p.Met82=)
c.179T= (p.Met60=)
n.265T=
c.347T= (p.Met116=)
c.52T=
n.487T=
19g.41410774G>ACA9461035BCKDHAc.246G>A (p.Met82Ile)
c.180G>A (p.Met60Ile)
n.266G>A
c.348G>A (p.Met116Ile)
c.53G>A
n.488G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410774G>CCA406004877BCKDHAc.246G>C (p.Met82Ile)
c.180G>C (p.Met60Ile)
n.266G>C
c.348G>C (p.Met116Ile)
c.53G>C
n.488G>C
19g.41410774G=CA2336453816BCKDHAc.246G= (p.Met82=)
c.180G= (p.Met60=)
n.266G=
c.348G= (p.Met116=)
c.53G=
n.488G=
19g.41410774G>TCA406004878BCKDHAc.246G>T (p.Met82Ile)
c.180G>T (p.Met60Ile)
n.266G>T
c.348G>T (p.Met116Ile)
c.53G>T
n.488G>T
19g.41410775G>ACA406004887BCKDHAc.247G>A (p.Asp83Asn)
c.181G>A (p.Asp61Asn)
n.267G>A
c.349G>A (p.Asp117Asn)
c.54G>A
n.489G>A
19g.41410775G>CCA406004882BCKDHAc.247G>C (p.Asp83His)
c.181G>C (p.Asp61His)
n.267G>C
c.349G>C (p.Asp117His)
c.54G>C
n.489G>C
19g.41410775G>TCA406004884BCKDHAc.247G>T (p.Asp83Tyr)
c.181G>T (p.Asp61Tyr)
n.267G>T
c.349G>T (p.Asp117Tyr)
c.54G>T
n.489G>T
19g.41410776A>CCA406004890BCKDHAc.248A>C (p.Asp83Ala)
c.182A>C (p.Asp61Ala)
n.268A>C
c.350A>C (p.Asp117Ala)
c.55A>C
n.490A>C
19g.41410776A>GCA406004891BCKDHAc.248A>G (p.Asp83Gly)
c.182A>G (p.Asp61Gly)
n.268A>G
c.350A>G (p.Asp117Gly)
c.55A>G
n.490A>G
19g.41410776A>TCA406004894BCKDHAc.248A>T (p.Asp83Val)
c.182A>T (p.Asp61Val)
n.268A>T
c.350A>T (p.Asp117Val)
c.55A>T
n.490A>T
19g.41410777C>ACA406004896BCKDHAc.249C>A (p.Asp83Glu)
c.183C>A (p.Asp61Glu)
n.269C>A
c.351C>A (p.Asp117Glu)
c.56C>A
n.491C>A
19g.41410777C=CA2336453817BCKDHAc.249C= (p.Asp83=)
c.183C= (p.Asp61=)
n.269C=
c.351C= (p.Asp117=)
c.56C=
n.491C=
19g.41410777C>GCA406004899BCKDHAc.249C>G (p.Asp83Glu)
c.183C>G (p.Asp61Glu)
n.269C>G
c.351C>G (p.Asp117Glu)
c.56C>G
n.491C>G
19g.41410777C>TCA221191BCKDHAc.249C>T (p.Asp83=)
c.183C>T (p.Asp61=)
n.269C>T
c.351C>T (p.Asp117=)
c.56C>T
n.491C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410778C>ACA507555520BCKDHAc.250C>A (p.Arg84=)
c.184C>A (p.Arg62=)
n.270C>A
c.352C>A (p.Arg118=)
c.57C>A
n.492C>A
19g.41410778C=CA2336453818BCKDHAc.250C= (p.Arg84=)
c.184C= (p.Arg62=)
n.270C=
c.352C= (p.Arg118=)
c.57C=
n.492C=
19g.41410778C>GCA406004901BCKDHAc.250C>G (p.Arg84Gly)
c.184C>G (p.Arg62Gly)
n.270C>G
c.352C>G (p.Arg118Gly)
c.57C>G
n.492C>G
19g.41410778C>TCA308515422BCKDHAc.250C>T (p.Arg84Trp)
c.184C>T (p.Arg62Trp)
n.270C>T
c.352C>T (p.Arg118Trp)
c.57C>T
n.492C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410779G>ACA9461036BCKDHAc.251G>A (p.Arg84Gln)
c.185G>A (p.Arg62Gln)
n.271G>A
c.353G>A (p.Arg118Gln)
c.58G>A
n.493G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410779G>CCA406004906BCKDHAc.251G>C (p.Arg84Pro)
c.185G>C (p.Arg62Pro)
n.271G>C
c.353G>C (p.Arg118Pro)
c.58G>C
n.493G>C
19g.41410779G=CA2336453819BCKDHAc.251G= (p.Arg84=)
c.185G= (p.Arg62=)
n.271G=
c.353G= (p.Arg118=)
c.58G=
n.493G=
19g.41410779G>TCA406004909BCKDHAc.251G>T (p.Arg84Leu)
c.185G>T (p.Arg62Leu)
n.271G>T
c.353G>T (p.Arg118Leu)
c.58G>T
n.493G>T
19g.41410780G>ACA507555522BCKDHAc.252G>A (p.Arg84=)
c.186G>A (p.Arg62=)
n.272G>A
c.354G>A (p.Arg118=)
c.59G>A
n.494G>A
 ClinVar COSMIC
19g.41410780G>CCA507555524BCKDHAc.252G>C (p.Arg84=)
c.186G>C (p.Arg62=)
n.272G>C
c.354G>C (p.Arg118=)
c.59G>C
n.494G>C
19g.41410780G>TCA507555526BCKDHAc.252G>T (p.Arg84=)
c.186G>T (p.Arg62=)
n.272G>T
c.354G>T (p.Arg118=)
c.59G>T
n.494G>T
 ClinVar dbSNP
19g.41410781C>ACA406004916BCKDHAc.253C>A (p.Gln85Lys)
c.187C>A (p.Gln63Lys)
n.273C>A
c.355C>A (p.Gln119Lys)
c.60C>A
n.495C>A
19g.41410781C>GCA406004914BCKDHAc.253C>G (p.Gln85Glu)
c.187C>G (p.Gln63Glu)
n.273C>G
c.355C>G (p.Gln119Glu)
c.60C>G
n.495C>G
 gnomAD v4
19g.41410781C>TCA406004912BCKDHAc.253C>T (p.Gln85Ter)
c.187C>T (p.Gln63Ter)
n.273C>T
c.355C>T (p.Gln119Ter)
c.60C>T
n.495C>T
 ClinVar
19g.41410782A=CA2336453820BCKDHAc.254A= (p.Gln85=)
c.188A= (p.Gln63=)
n.274A=
c.356A= (p.Gln119=)
c.61A=
n.496A=
19g.41410782A>CCA406004918BCKDHAc.254A>C (p.Gln85Pro)
c.188A>C (p.Gln63Pro)
n.274A>C
c.356A>C (p.Gln119Pro)
c.61A>C
n.496A>C
19g.41410782A>GCA406004923BCKDHAc.254A>G (p.Gln85Arg)
c.188A>G (p.Gln63Arg)
n.274A>G
c.356A>G (p.Gln119Arg)
c.61A>G
n.496A>G
 dbSNP gnomAD v3 gnomAD v4
19g.41410782A>TCA406004921BCKDHAc.254A>T (p.Gln85Leu)
c.188A>T (p.Gln63Leu)
n.274A>T
c.356A>T (p.Gln119Leu)
c.61A>T
n.496A>T
19g.41410783A=CA2336453821BCKDHAc.255A= (p.Gln85=)
c.189A= (p.Gln63=)
n.275A=
c.357A= (p.Gln119=)
c.62A=
n.497A=
19g.41410783A>CCA406004926BCKDHAc.255A>C (p.Gln85His)
c.189A>C (p.Gln63His)
n.275A>C
c.357A>C (p.Gln119His)
c.62A>C
n.497A>C
19g.41410783A>GCA507555531BCKDHAc.255A>G (p.Gln85=)
c.189A>G (p.Gln63=)
n.275A>G
c.357A>G (p.Gln119=)
c.62A>G
n.497A>G
 dbSNP
19g.41410783A>TCA406004929BCKDHAc.255A>T (p.Gln85His)
c.189A>T (p.Gln63His)
n.275A>T
c.357A>T (p.Gln119His)
c.62A>T
n.497A>T
19g.41410784G>ACA406004932BCKDHAc.256G>A (p.Gly86Ser)
c.190G>A (p.Gly64Ser)
n.276G>A
c.358G>A (p.Gly120Ser)
c.63G>A
n.498G>A
19g.41410784G>CCA406004934BCKDHAc.256G>C (p.Gly86Arg)
c.190G>C (p.Gly64Arg)
n.276G>C
c.358G>C (p.Gly120Arg)
c.63G>C
n.498G>C
19g.41410784G>TCA406004936BCKDHAc.256G>T (p.Gly86Cys)
c.190G>T (p.Gly64Cys)
n.276G>T
c.358G>T (p.Gly120Cys)
c.63G>T
n.498G>T
 COSMIC
19g.41410785G>ACA308515433BCKDHAc.257G>A (p.Gly86Asp)
c.191G>A (p.Gly64Asp)
n.277G>A
c.359G>A (p.Gly120Asp)
c.64G>A
n.499G>A
 dbSNP gnomAD v4
19g.41410785G>CCA406004941BCKDHAc.257G>C (p.Gly86Ala)
c.191G>C (p.Gly64Ala)
n.277G>C
c.359G>C (p.Gly120Ala)
c.64G>C
n.499G>C
19g.41410785G=CA2336453822BCKDHAc.257G= (p.Gly86=)
c.191G= (p.Gly64=)
n.277G=
c.359G= (p.Gly120=)
c.64G=
n.499G=
19g.41410785G>TCA406004943BCKDHAc.257G>T (p.Gly86Val)
c.191G>T (p.Gly64Val)
n.277G>T
c.359G>T (p.Gly120Val)
c.64G>T
n.499G>T
19g.41410786C>ACA507555534BCKDHAc.258C>A (p.Gly86=)
c.192C>A (p.Gly64=)
n.278C>A
c.360C>A (p.Gly120=)
c.65C>A
n.500C>A
19g.41410786C>GCA507555536BCKDHAc.258C>G (p.Gly86=)
c.192C>G (p.Gly64=)
n.278C>G
c.360C>G (p.Gly120=)
c.65C>G
n.500C>G
 ClinVar dbSNP
19g.41410786C>TCA507555537BCKDHAc.258C>T (p.Gly86=)
c.192C>T (p.Gly64=)
n.278C>T
c.360C>T (p.Gly120=)
c.65C>T
n.500C>T
19g.41410787C>ACA406004946BCKDHAc.259C>A (p.Gln87Lys)
c.193C>A (p.Gln65Lys)
n.279C>A
c.361C>A (p.Gln121Lys)
c.66C>A
n.501C>A
19g.41410787C>GCA406004948BCKDHAc.259C>G (p.Gln87Glu)
c.193C>G (p.Gln65Glu)
n.279C>G
c.361C>G (p.Gln121Glu)
c.66C>G
n.501C>G
19g.41410787C>TCA406004951BCKDHAc.259C>T (p.Gln87Ter)
c.193C>T (p.Gln65Ter)
n.279C>T
c.361C>T (p.Gln121Ter)
c.66C>T
n.501C>T
 gnomAD v4
19g.41410788A>CCA406004954BCKDHAc.260A>C (p.Gln87Pro)
c.194A>C (p.Gln65Pro)
n.280A>C
c.362A>C (p.Gln121Pro)
c.67A>C
n.502A>C
19g.41410788A>GCA406004956BCKDHAc.260A>G (p.Gln87Arg)
c.194A>G (p.Gln65Arg)
n.280A>G
c.362A>G (p.Gln121Arg)
c.67A>G
n.502A>G
19g.41410788A>TCA406004958BCKDHAc.260A>T (p.Gln87Leu)
c.194A>T (p.Gln65Leu)
n.280A>T
c.362A>T (p.Gln121Leu)
c.67A>T
n.502A>T
19g.41410789G>ACA507555540BCKDHAc.261G>A (p.Gln87=)
c.195G>A (p.Gln65=)
n.281G>A
c.363G>A (p.Gln121=)
c.68G>A
n.503G>A
19g.41410789G>CCA406004963BCKDHAc.261G>C (p.Gln87His)
c.195G>C (p.Gln65His)
n.281G>C
c.363G>C (p.Gln121His)
c.68G>C
n.503G>C
19g.41410789G=CA2336453823BCKDHAc.261G= (p.Gln87=)
c.195G= (p.Gln65=)
n.281G=
c.363G= (p.Gln121=)
c.68G=
n.503G=
19g.41410789G>TCA9461037BCKDHAc.261G>T (p.Gln87His)
c.195G>T (p.Gln65His)
n.281G>T
c.363G>T (p.Gln121His)
c.68G>T
n.503G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410790A>CCA406004966BCKDHAc.262A>C (p.Ile88Leu)
c.196A>C (p.Ile66Leu)
n.282A>C
c.364A>C (p.Ile122Leu)
c.69A>C
n.504A>C
19g.41410790A>GCA406004969BCKDHAc.262A>G (p.Ile88Val)
c.196A>G (p.Ile66Val)
n.282A>G
c.364A>G (p.Ile122Val)
c.69A>G
n.504A>G
19g.41410790A>TCA406004972BCKDHAc.262A>T (p.Ile88Phe)
c.196A>T (p.Ile66Phe)
n.282A>T
c.364A>T (p.Ile122Phe)
c.69A>T
n.504A>T
19g.41410791T>ACA406004974BCKDHAc.263T>A (p.Ile88Asn)
c.197T>A (p.Ile66Asn)
n.283T>A
c.365T>A (p.Ile122Asn)
c.70T>A
n.505T>A
19g.41410791T>CCA406004976BCKDHAc.263T>C (p.Ile88Thr)
c.197T>C (p.Ile66Thr)
n.283T>C
c.365T>C (p.Ile122Thr)
c.70T>C
n.505T>C
 dbSNP gnomAD v2 gnomAD v4
19g.41410791T>GCA406004978BCKDHAc.263T>G (p.Ile88Ser)
c.197T>G (p.Ile66Ser)
n.283T>G
c.365T>G (p.Ile122Ser)
c.70T>G
n.505T>G
19g.41410791T=CA2336453824BCKDHAc.263T= (p.Ile88=)
c.197T= (p.Ile66=)
n.283T=
c.365T= (p.Ile122=)
c.70T=
n.505T=
19g.41410792C>ACA507555545BCKDHAc.264C>A (p.Ile88=)
c.198C>A (p.Ile66=)
n.284C>A
c.366C>A (p.Ile122=)
c.71C>A
n.506C>A
19g.41410792C>GCA406004980BCKDHAc.264C>G (p.Ile88Met)
c.198C>G (p.Ile66Met)
n.284C>G
c.366C>G (p.Ile122Met)
c.71C>G
n.506C>G
19g.41410792C>TCA507555546BCKDHAc.264C>T (p.Ile88=)
c.198C>T (p.Ile66=)
n.284C>T
c.366C>T (p.Ile122=)
c.71C>T
n.506C>T
19g.41410793A>CCA406004984BCKDHAc.265A>C (p.Ile89Leu)
c.199A>C (p.Ile67Leu)
n.285A>C
c.367A>C (p.Ile123Leu)
c.72A>C
n.507A>C
19g.41410793A>GCA406004987BCKDHAc.265A>G (p.Ile89Val)
c.199A>G (p.Ile67Val)
n.285A>G
c.367A>G (p.Ile123Val)
c.72A>G
n.507A>G
19g.41410793A>TCA406004991BCKDHAc.265A>T (p.Ile89Phe)
c.199A>T (p.Ile67Phe)
n.285A>T
c.367A>T (p.Ile123Phe)
c.72A>T
n.507A>T
19g.41410794T>ACA406004995BCKDHAc.266T>A (p.Ile89Asn)
c.200T>A (p.Ile67Asn)
n.286T>A
c.368T>A (p.Ile123Asn)
c.73T>A
n.508T>A
19g.41410794T>CCA406004998BCKDHAc.266T>C (p.Ile89Thr)
c.200T>C (p.Ile67Thr)
n.286T>C
c.368T>C (p.Ile123Thr)
c.73T>C
n.508T>C
19g.41410794T>GCA406005000BCKDHAc.266T>G (p.Ile89Ser)
c.200T>G (p.Ile67Ser)
n.286T>G
c.368T>G (p.Ile123Ser)
c.73T>G
n.508T>G
19g.41410795C>ACA507555548BCKDHAc.267C>A (p.Ile89=)
c.201C>A (p.Ile67=)
n.287C>A
c.369C>A (p.Ile123=)
c.74C>A
n.509C>A
19g.41410795C>GCA406005001BCKDHAc.267C>G (p.Ile89Met)
c.201C>G (p.Ile67Met)
n.287C>G
c.369C>G (p.Ile123Met)
c.74C>G
n.509C>G
19g.41410795C>TCA507555550BCKDHAc.267C>T (p.Ile89=)
c.201C>T (p.Ile67=)
n.287C>T
c.369C>T (p.Ile123=)
c.74C>T
n.509C>T
19g.41410796A>CCA406005004BCKDHAc.268A>C (p.Asn90His)
c.202A>C (p.Asn68His)
n.288A>C
c.370A>C (p.Asn124His)
c.75A>C
n.510A>C
 dbSNP
19g.41410796A>GCA406005002BCKDHAc.268A>G (p.Asn90Asp)
c.202A>G (p.Asn68Asp)
n.288A>G
c.370A>G (p.Asn124Asp)
c.75A>G
n.510A>G
19g.41410796A>TCA406005003BCKDHAc.268A>T (p.Asn90Tyr)
c.202A>T (p.Asn68Tyr)
n.288A>T
c.370A>T (p.Asn124Tyr)
c.75A>T
n.510A>T
19g.41410797A=CA2336453825BCKDHAc.269A= (p.Asn90=)
c.203A= (p.Asn68=)
n.289A=
c.371A= (p.Asn124=)
c.76A=
n.511A=
19g.41410797A>CCA406005005BCKDHAc.269A>C (p.Asn90Thr)
c.203A>C (p.Asn68Thr)
n.289A>C
c.371A>C (p.Asn124Thr)
c.76A>C
n.511A>C
19g.41410797A>GCA406005006BCKDHAc.269A>G (p.Asn90Ser)
c.203A>G (p.Asn68Ser)
n.289A>G
c.371A>G (p.Asn124Ser)
c.76A>G
n.511A>G
 dbSNP
19g.41410797A>TCA406005007BCKDHAc.269A>T (p.Asn90Ile)
c.203A>T (p.Asn68Ile)
n.289A>T
c.371A>T (p.Asn124Ile)
c.76A>T
n.511A>T
 dbSNP gnomAD v2 gnomAD v4
19g.41410798C>ACA406005008BCKDHAc.270C>A (p.Asn90Lys)
c.204C>A (p.Asn68Lys)
n.290C>A
c.372C>A (p.Asn124Lys)
c.77C>A
n.512C>A
19g.41410798C>GCA406005009BCKDHAc.270C>G (p.Asn90Lys)
c.204C>G (p.Asn68Lys)
n.290C>G
c.372C>G (p.Asn124Lys)
c.77C>G
n.512C>G
19g.41410798C>TCA507555553BCKDHAc.270C>T (p.Asn90=)
c.204C>T (p.Asn68=)
n.290C>T
c.372C>T (p.Asn124=)
c.77C>T
n.512C>T
19g.41410799C>ACA406005011BCKDHAc.271C>A (p.Pro91Thr)
c.205C>A (p.Pro69Thr)
n.291C>A
c.373C>A (p.Pro125Thr)
c.78C>A
n.513C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410799C=CA2336453826BCKDHAc.271C= (p.Pro91=)
c.205C= (p.Pro69=)
n.291C=
c.373C= (p.Pro125=)
c.78C=
n.513C=
19g.41410799C>GCA406005012BCKDHAc.271C>G (p.Pro91Ala)
c.205C>G (p.Pro69Ala)
n.291C>G
c.373C>G (p.Pro125Ala)
c.78C>G
n.513C>G
19g.41410799C>TCA406005013BCKDHAc.271C>T (p.Pro91Ser)
c.205C>T (p.Pro69Ser)
n.291C>T
c.373C>T (p.Pro125Ser)
c.78C>T
n.513C>T
19g.41410800C>ACA9461038BCKDHAc.272C>A (p.Pro91His)
c.206C>A (p.Pro69His)
n.292C>A
c.374C>A (p.Pro125His)
c.79C>A
n.514C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410800C=CA2336453827BCKDHAc.272C= (p.Pro91=)
c.206C= (p.Pro69=)
n.292C=
c.374C= (p.Pro125=)
c.79C=
n.514C=
19g.41410800C>GCA406005019BCKDHAc.272C>G (p.Pro91Arg)
c.206C>G (p.Pro69Arg)
n.292C>G
c.374C>G (p.Pro125Arg)
c.79C>G
n.514C>G
19g.41410800C>TCA406005022BCKDHAc.272C>T (p.Pro91Leu)
c.206C>T (p.Pro69Leu)
n.292C>T
c.374C>T (p.Pro125Leu)
c.79C>T
n.514C>T
19g.41410801C>ACA507555557BCKDHAc.273C>A (p.Pro91=)
c.207C>A (p.Pro69=)
n.293C>A
c.375C>A (p.Pro125=)
c.80C>A
n.515C>A
19g.41410801C=CA2336453828BCKDHAc.273C= (p.Pro91=)
c.207C= (p.Pro69=)
n.293C=
c.375C= (p.Pro125=)
c.80C=
n.515C=
19g.41410801C>GCA507555558BCKDHAc.273C>G (p.Pro91=)
c.207C>G (p.Pro69=)
n.293C>G
c.375C>G (p.Pro125=)
c.80C>G
n.515C>G
19g.41410801C>TCA507555559BCKDHAc.273C>T (p.Pro91=)
c.207C>T (p.Pro69=)
n.293C>T
c.375C>T (p.Pro125=)
c.80C>T
n.515C>T
 dbSNP
19g.41410802A>CCA406005037BCKDHAc.274A>C (p.Ser92Arg)
c.208A>C (p.Ser70Arg)
n.294A>C
c.376A>C (p.Ser126Arg)
c.81A>C
n.516A>C
19g.41410802A>GCA406005025BCKDHAc.274A>G (p.Ser92Gly)
c.208A>G (p.Ser70Gly)
n.294A>G
c.376A>G (p.Ser126Gly)
c.81A>G
n.516A>G
19g.41410802A>TCA406005026BCKDHAc.274A>T (p.Ser92Cys)
c.208A>T (p.Ser70Cys)
n.294A>T
c.376A>T (p.Ser126Cys)
c.81A>T
n.516A>T
19g.41410803G>ACA406005042BCKDHAc.275G>A (p.Ser92Asn)
c.209G>A (p.Ser70Asn)
n.295G>A
c.377G>A (p.Ser126Asn)
c.82G>A
n.517G>A
19g.41410803G>CCA406005044BCKDHAc.275G>C (p.Ser92Thr)
c.209G>C (p.Ser70Thr)
n.295G>C
c.377G>C (p.Ser126Thr)
c.82G>C
n.517G>C
19g.41410803G>TCA406005047BCKDHAc.275G>T (p.Ser92Ile)
c.209G>T (p.Ser70Ile)
n.295G>T
c.377G>T (p.Ser126Ile)
c.82G>T
n.517G>T
19g.41410804C>ACA406005048BCKDHAc.276C>A (p.Ser92Arg)
c.210C>A (p.Ser70Arg)
n.296C>A
c.378C>A (p.Ser126Arg)
c.83C>A
n.518C>A
19g.41410804C=CA2336453829BCKDHAc.276C= (p.Ser92=)
c.210C= (p.Ser70=)
n.296C=
c.378C= (p.Ser126=)
c.83C=
n.518C=
19g.41410804C>GCA406005049BCKDHAc.276C>G (p.Ser92Arg)
c.210C>G (p.Ser70Arg)
n.296C>G
c.378C>G (p.Ser126Arg)
c.83C>G
n.518C>G
 dbSNP gnomAD v2 gnomAD v4
19g.41410804C>TCA9461039BCKDHAc.276C>T (p.Ser92=)
c.210C>T (p.Ser70=)
n.296C>T
c.378C>T (p.Ser126=)
c.83C>T
n.518C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410805G>ACA9461040BCKDHAc.277G>A (p.Glu93Lys)
c.211G>A (p.Glu71Lys)
n.297G>A
c.379G>A (p.Glu127Lys)
c.84G>A
n.519G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410805G>CCA406005054BCKDHAc.277G>C (p.Glu93Gln)
c.211G>C (p.Glu71Gln)
n.297G>C
c.379G>C (p.Glu127Gln)
c.84G>C
n.519G>C
19g.41410805G=CA2336453830BCKDHAc.277G= (p.Glu93=)
c.211G= (p.Glu71=)
n.297G=
c.379G= (p.Glu127=)
c.84G=
n.519G=
19g.41410805G>TCA406005057BCKDHAc.277G>T (p.Glu93Ter)
c.211G>T (p.Glu71Ter)
n.297G>T
c.379G>T (p.Glu127Ter)
c.84G>T
n.519G>T
 ClinVar
19g.41410806A>CCA406005060BCKDHAc.278A>C (p.Glu93Ala)
c.212A>C (p.Glu71Ala)
n.298A>C
c.380A>C (p.Glu127Ala)
c.85A>C
n.520A>C
19g.41410806A>GCA406005061BCKDHAc.278A>G (p.Glu93Gly)
c.212A>G (p.Glu71Gly)
n.298A>G
c.380A>G (p.Glu127Gly)
c.85A>G
n.520A>G
19g.41410806A>TCA406005062BCKDHAc.278A>T (p.Glu93Val)
c.212A>T (p.Glu71Val)
n.298A>T
c.380A>T (p.Glu127Val)
c.85A>T
n.520A>T
19g.41410807G>ACA507555568BCKDHAc.279G>A (p.Glu93=)
c.213G>A (p.Glu71=)
n.299G>A
c.381G>A (p.Glu127=)
c.86G>A
n.521G>A
 dbSNP gnomAD v4 COSMIC
19g.41410807G>CCA406005063BCKDHAc.279G>C (p.Glu93Asp)
c.213G>C (p.Glu71Asp)
n.299G>C
c.381G>C (p.Glu127Asp)
c.86G>C
n.521G>C
19g.41410807G=CA2336453831BCKDHAc.279G= (p.Glu93=)
c.213G= (p.Glu71=)
n.299G=
c.381G= (p.Glu127=)
c.86G=
n.521G=
19g.41410807G>TCA406005064BCKDHAc.279G>T (p.Glu93Asp)
c.213G>T (p.Glu71Asp)
n.299G>T
c.381G>T (p.Glu127Asp)
c.86G>T
n.521G>T
19g.41410808G>ACA406005067BCKDHAc.280G>A (p.Asp94Asn)
c.214G>A (p.Asp72Asn)
n.300G>A
c.382G>A (p.Asp128Asn)
c.87G>A
n.522G>A
 gnomAD v4
19g.41410808G>CCA406005071BCKDHAc.280G>C (p.Asp94His)
c.214G>C (p.Asp72His)
n.300G>C
c.382G>C (p.Asp128His)
c.87G>C
n.522G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.41410808G=CA2336453832BCKDHAc.280G= (p.Asp94=)
c.214G= (p.Asp72=)
n.300G=
c.382G= (p.Asp128=)
c.87G=
n.522G=
19g.41410808G>TCA406005069BCKDHAc.280G>T (p.Asp94Tyr)
c.214G>T (p.Asp72Tyr)
n.300G>T
c.382G>T (p.Asp128Tyr)
c.87G>T
n.522G>T
19g.41410809A=CA2336453833BCKDHAc.281A= (p.Asp94=)
c.215A= (p.Asp72=)
n.301A=
c.383A= (p.Asp128=)
c.88A=
n.523A=
19g.41410809A>CCA406005076BCKDHAc.281A>C (p.Asp94Ala)
c.215A>C (p.Asp72Ala)
n.301A>C
c.383A>C (p.Asp128Ala)
c.88A>C
n.523A>C
19g.41410809A>GCA406005078BCKDHAc.281A>G (p.Asp94Gly)
c.215A>G (p.Asp72Gly)
n.301A>G
c.383A>G (p.Asp128Gly)
c.88A>G
n.523A>G
 dbSNP gnomAD v2 gnomAD v4
19g.41410809A>TCA406005080BCKDHAc.281A>T (p.Asp94Val)
c.215A>T (p.Asp72Val)
n.301A>T
c.383A>T (p.Asp128Val)
c.88A>T
n.523A>T
 gnomAD v4
19g.41410810C>ACA406005084BCKDHAc.282C>A (p.Asp94Glu)
c.216C>A (p.Asp72Glu)
n.302C>A
c.384C>A (p.Asp128Glu)
c.89C>A
n.524C>A
 ClinVar gnomAD v4
19g.41410810C=CA2336453834BCKDHAc.282C= (p.Asp94=)
c.216C= (p.Asp72=)
n.302C=
c.384C= (p.Asp128=)
c.89C=
n.524C=
19g.41410810C>GCA406005086BCKDHAc.282C>G (p.Asp94Glu)
c.216C>G (p.Asp72Glu)
n.302C>G
c.384C>G (p.Asp128Glu)
c.89C>G
n.524C>G
19g.41410810C>TCA308515452BCKDHAc.282C>T (p.Asp94=)
c.216C>T (p.Asp72=)
n.302C>T
c.384C>T (p.Asp128=)
c.89C>T
n.524C>T
 ClinVar dbSNP gnomAD v4
19g.41410811C>ACA9461041BCKDHAc.283C>A (p.Pro95Thr)
c.217C>A (p.Pro73Thr)
n.303C>A
c.385C>A (p.Pro129Thr)
c.90C>A
n.525C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410811C=CA2336453835BCKDHAc.283C= (p.Pro95=)
c.217C= (p.Pro73=)
n.303C=
c.385C= (p.Pro129=)
c.90C=
n.525C=
19g.41410811C>GCA406005092BCKDHAc.283C>G (p.Pro95Ala)
c.217C>G (p.Pro73Ala)
n.303C>G
c.385C>G (p.Pro129Ala)
c.90C>G
n.525C>G
 gnomAD v4
19g.41410811C>TCA406005096BCKDHAc.283C>T (p.Pro95Ser)
c.217C>T (p.Pro73Ser)
n.303C>T
c.385C>T (p.Pro129Ser)
c.90C>T
n.525C>T
19g.41410812C>ACA406005099BCKDHAc.284C>A (p.Pro95His)
c.218C>A (p.Pro73His)
n.304C>A
c.386C>A (p.Pro129His)
c.91C>A
n.526C>A
19g.41410812C=CA2336453836BCKDHAc.284C= (p.Pro95=)
c.218C= (p.Pro73=)
n.304C=
c.386C= (p.Pro129=)
c.91C=
n.526C=
19g.41410812C>GCA406005100BCKDHAc.284C>G (p.Pro95Arg)
c.218C>G (p.Pro73Arg)
n.304C>G
c.386C>G (p.Pro129Arg)
c.91C>G
n.526C>G
19g.41410812C>TCA406005101BCKDHAc.284C>T (p.Pro95Leu)
c.218C>T (p.Pro73Leu)
n.304C>T
c.386C>T (p.Pro129Leu)
c.91C>T
n.526C>T
 dbSNP gnomAD v4
19g.41410812_41410817delinsCCCACGCA2336453837BCKDHAc.284_288+1delinsCCCACG
c.218_222+1delinsCCCACG
n.304_309delinsCCCACG
c.386_390+1delinsCCCACG
c.91_95+1delinsCCCACG
n.526_531delinsCCCACG
19g.41410813C>ACA9461042BCKDHAc.285C>A (p.Pro95=)
c.219C>A (p.Pro73=)
n.305C>A
c.387C>A (p.Pro129=)
c.92C>A
n.527C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410813C=CA2336453839BCKDHAc.285C= (p.Pro95=)
c.219C= (p.Pro73=)
n.305C=
c.387C= (p.Pro129=)
c.92C=
n.527C=
19g.41410813C>GCA507555577BCKDHAc.285C>G (p.Pro95=)
c.219C>G (p.Pro73=)
n.305C>G
c.387C>G (p.Pro129=)
c.92C>G
n.527C>G
19g.41410813C>TCA507555578BCKDHAc.285C>T (p.Pro95=)
c.219C>T (p.Pro73=)
n.305C>T
c.387C>T (p.Pro129=)
c.92C>T
n.527C>T
 dbSNP gnomAD v2 gnomAD v4
19g.41410813_41410817delCA2336453838BCKDHAc.285_288+1del
c.219_222+1del
n.305_309del
c.387_390+1del
c.92_95+1del
n.527_531del
 dbSNP
19g.41410814C>ACA406005110BCKDHAc.286C>A (p.His96Asn)
c.220C>A (p.His74Asn)
n.306C>A
c.388C>A (p.His130Asn)
c.93C>A
n.528C>A
19g.41410814C>GCA406005104BCKDHAc.286C>G (p.His96Asp)
c.220C>G (p.His74Asp)
n.306C>G
c.388C>G (p.His130Asp)
c.93C>G
n.528C>G
19g.41410814C>TCA406005107BCKDHAc.286C>T (p.His96Tyr)
c.220C>T (p.His74Tyr)
n.306C>T
c.388C>T (p.His130Tyr)
c.93C>T
n.528C>T
19g.41410815A>CCA406005114BCKDHAc.287A>C (p.His96Pro)
c.221A>C (p.His74Pro)
n.307A>C
c.389A>C (p.His130Pro)
c.94A>C
n.529A>C
 dbSNP
19g.41410815A>GCA406005115BCKDHAc.287A>G (p.His96Arg)
c.221A>G (p.His74Arg)
n.307A>G
c.389A>G (p.His130Arg)
c.94A>G
n.529A>G
19g.41410815A>TCA406005116BCKDHAc.287A>T (p.His96Leu)
c.221A>T (p.His74Leu)
n.307A>T
c.389A>T (p.His130Leu)
c.94A>T
n.529A>T
19g.41410816C>ACA406005117BCKDHAc.288C>A (p.His96Gln)
c.222C>A (p.His74Gln)
n.308C>A
c.390C>A (p.His130Gln)
c.95C>A
n.530C>A
19g.41410816C=CA2336453840BCKDHAc.288C= (p.His96=)
c.222C= (p.His74=)
n.308C=
c.390C= (p.His130=)
c.95C=
n.530C=
19g.41410816C>GCA406005119BCKDHAc.288C>G (p.His96Gln)
c.222C>G (p.His74Gln)
n.308C>G
c.390C>G (p.His130Gln)
c.95C>G
n.530C>G
 gnomAD v4
19g.41410816C>TCA221194BCKDHAc.288C>T (p.His96=)
c.222C>T (p.His74=)
n.308C>T
c.390C>T (p.His130=)
c.95C>T
n.530C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410817G>ACA275072BCKDHAc.288+1G>A (n.288+1G>A)
c.222+1G>A (n.222+1G>A)
n.309G>A
c.390+1G>A (n.390+1G>A)
c.95+1G>A
n.531G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410817G>CCA406005127BCKDHAc.288+1G>C (n.288+1G>C)
c.222+1G>C (n.222+1G>C)
n.309G>C
c.390+1G>C (n.390+1G>C)
c.95+1G>C
n.531G>C
19g.41410817G=CA2336453841BCKDHAc.288+1G= (n.288+1G=)
c.222+1G= (n.222+1G=)
n.309G=
c.390+1G= (n.390+1G=)
c.95+1G=
n.531G=
19g.41410817G>TCA406005133BCKDHAc.288+1G>T (n.288+1G>T)
c.222+1G>T (n.222+1G>T)
n.309G>T
c.390+1G>T (n.390+1G>T)
c.95+1G>T
n.531G>T
19g.41410818T>ACA406005137BCKDHAc.288+2T>A (n.288+2T>A)
c.222+2T>A (n.222+2T>A)
n.310T>A
c.390+2T>A (n.390+2T>A)
c.95+2T>A
n.532T>A
19g.41410818T>CCA406005141BCKDHAc.288+2T>C (n.288+2T>C)
c.222+2T>C (n.222+2T>C)
n.310T>C
c.390+2T>C (n.390+2T>C)
c.95+2T>C
n.532T>C
19g.41410818T>GCA406005144BCKDHAc.288+2T>G (n.288+2T>G)
c.222+2T>G (n.222+2T>G)
n.310T>G
c.390+2T>G (n.390+2T>G)
c.95+2T>G
n.532T>G
 dbSNP
19g.41410818_41410820delinsTGACA2336453842BCKDHAc.288+2_288+4delinsTGA (n.288+2_288+4delinsTGA)
c.222+2_222+4delinsTGA (n.222+2_222+4delinsTGA)
n.310_312delinsTGA
c.390+2_390+4delinsTGA (n.390+2_390+4delinsTGA)
c.95+2_95+4delinsTGA
n.532_534delinsTGA
19g.41410819G>ACA2585306803BCKDHAc.288+3G>A (n.288+3G>A)
c.222+3G>A (n.222+3G>A)
n.311G>A
c.390+3G>A (n.390+3G>A)
c.95+3G>A
n.533G>A
 gnomAD v4
19g.41410822_41410823delCA633470458BCKDHAc.288+6_288+7del (n.288+6_288+7del)
c.222+6_222+7del (n.222+6_222+7del)
n.314_315del
c.390+6_390+7del (n.390+6_390+7del)
c.95+6_95+7del
n.536_537del
 dbSNP gnomAD v2 gnomAD v4
19g.41410820A=CA2336453843BCKDHAc.288+4A= (n.288+4A=)
c.222+4A= (n.222+4A=)
n.312A=
c.390+4A= (n.390+4A=)
c.95+4A=
n.534A=
19g.41410820A>GCA2336453844BCKDHAc.288+4A>G (n.288+4A>G)
c.222+4A>G (n.222+4A>G)
n.312A>G
c.390+4A>G (n.390+4A>G)
c.95+4A>G
n.534A>G
 dbSNP
19g.41410821G>CCA2585306804BCKDHAc.288+5G>C (n.288+5G>C)
c.222+5G>C (n.222+5G>C)
n.313G>C
c.390+5G>C (n.390+5G>C)
c.95+5G>C
n.535G>C
 gnomAD v4
19g.41410822A>GCA2735979235BCKDHAc.288+6A>G (n.288+6A>G)
c.222+6A>G (n.222+6A>G)
n.314A>G
c.390+6A>G (n.390+6A>G)
c.95+6A>G
n.536A>G
 dbSNP
19g.41410823G>ACA9461043BCKDHAc.288+7G>A (n.288+7G>A)
c.222+7G>A (n.222+7G>A)
n.315G>A
c.390+7G>A (n.390+7G>A)
c.95+7G>A
n.537G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410823G=CA2336453845BCKDHAc.288+7G= (n.288+7G=)
c.222+7G= (n.222+7G=)
n.315G=
c.390+7G= (n.390+7G=)
c.95+7G=
n.537G=
19g.41410825C=CA2336453846BCKDHAc.288+9C= (n.288+9C=)
c.222+9C= (n.222+9C=)
n.317C=
c.390+9C= (n.390+9C=)
c.95+9C=
n.539C=
19g.41410825C>TCA221193BCKDHAc.288+9C>T (n.288+9C>T)
c.222+9C>T (n.222+9C>T)
n.317C>T
c.390+9C>T (n.390+9C>T)
c.95+9C>T
n.539C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410826G>ACA9461044BCKDHAc.288+10G>A (n.288+10G>A)
c.222+10G>A (n.222+10G>A)
n.318G>A
c.390+10G>A (n.390+10G>A)
c.95+10G>A
n.540G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410826G>CCA2573156386BCKDHAc.288+10G>C (n.288+10G>C)
c.222+10G>C (n.222+10G>C)
n.318G>C
c.390+10G>C (n.390+10G>C)
c.95+10G>C
n.540G>C
 ClinVar dbSNP
19g.41410826G=CA2336453847BCKDHAc.288+10G= (n.288+10G=)
c.222+10G= (n.222+10G=)
n.318G=
c.390+10G= (n.390+10G=)
c.95+10G=
n.540G=
19g.41410826G>TCA2585306805BCKDHAc.288+10G>T (n.288+10G>T)
c.222+10G>T (n.222+10G>T)
n.318G>T
c.390+10G>T (n.390+10G>T)
c.95+10G>T
n.540G>T
 gnomAD v4
19g.41410827G>ACA9461045BCKDHAc.288+11G>A (n.288+11G>A)
c.222+11G>A (n.222+11G>A)
n.319G>A
c.390+11G>A (n.390+11G>A)
c.95+11G>A
n.541G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410827G=CA2336453848BCKDHAc.288+11G= (n.288+11G=)
c.222+11G= (n.222+11G=)
n.319G=
c.390+11G= (n.390+11G=)
c.95+11G=
n.541G=
19g.41410828C=CA2336453849BCKDHAc.288+12C= (n.288+12C=)
c.222+12C= (n.222+12C=)
n.320C=
c.390+12C= (n.390+12C=)
c.95+12C=
n.542C=
19g.41410828C>GCA2336453850BCKDHAc.288+12C>G (n.288+12C>G)
c.222+12C>G (n.222+12C>G)
n.320C>G
c.390+12C>G (n.390+12C>G)
c.95+12C>G
n.542C>G
 dbSNP
19g.41410829C=CA2336453851BCKDHAc.288+13C= (n.288+13C=)
c.222+13C= (n.222+13C=)
n.321C=
c.390+13C= (n.390+13C=)
c.95+13C=
n.543C=
19g.41410829C>TCA882340747BCKDHAc.288+13C>T (n.288+13C>T)
c.222+13C>T (n.222+13C>T)
n.321C>T
c.390+13C>T (n.390+13C>T)
c.95+13C>T
n.543C>T
 dbSNP gnomAD v3 gnomAD v4
19g.41410830delCA2585306806BCKDHAc.288+14del (n.288+14del)
c.222+14del (n.222+14del)
n.322del
c.390+14del (n.390+14del)
c.95+14del
n.544del
 gnomAD v4
19g.41410830T>ACA2741631873BCKDHAc.288+14T>A (n.288+14T>A)
c.222+14T>A (n.222+14T>A)
n.322T>A
c.390+14T>A (n.390+14T>A)
c.95+14T>A
n.544T>A
19g.41410830_41410831delinsTCCA2336453852BCKDHAc.288+14_288+15delinsTC (n.288+14_288+15delinsTC)
c.222+14_222+15delinsTC (n.222+14_222+15delinsTC)
n.322_323delinsTC
c.390+14_390+15delinsTC (n.390+14_390+15delinsTC)
c.95+14_95+15delinsTC
n.544_545delinsTC

Number of alleles fetched