Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410954A>CCA406005549BCKDHAc.320A>C (p.Lys107Thr)
c.254A>C (p.Lys85Thr)
n.446A>C
c.422A>C (p.Lys141Thr)
c.127A>C
c.288+138A>C (n.288+138A>C)
19g.41410954A>GCA406005554BCKDHAc.320A>G (p.Lys107Arg)
c.254A>G (p.Lys85Arg)
n.446A>G
c.422A>G (p.Lys141Arg)
c.127A>G
c.288+138A>G (n.288+138A>G)
19g.41410954A>TCA406005558BCKDHAc.320A>T (p.Lys107Met)
c.254A>T (p.Lys85Met)
n.446A>T
c.422A>T (p.Lys141Met)
c.127A>T
c.288+138A>T (n.288+138A>T)
19g.41410955G>ACA507555651BCKDHAc.321G>A (p.Lys107=)
c.255G>A (p.Lys85=)
n.447G>A
c.423G>A (p.Lys141=)
c.128G>A
c.288+139G>A (n.288+139G>A)
19g.41410955G>CCA406005563BCKDHAc.321G>C (p.Lys107Asn)
c.255G>C (p.Lys85Asn)
n.447G>C
c.423G>C (p.Lys141Asn)
c.128G>C
c.288+139G>C (n.288+139G>C)
19g.41410955G>TCA406005568BCKDHAc.321G>T (p.Lys107Asn)
c.255G>T (p.Lys85Asn)
n.447G>T
c.423G>T (p.Lys141Asn)
c.128G>T
c.288+139G>T (n.288+139G>T)
19g.41410956A=CA2336453924BCKDHAc.322A= (p.Ser108=)
c.256A= (p.Ser86=)
n.448A=
c.424A= (p.Ser142=)
c.129A=
c.288+140A= (n.288+140A=)
19g.41410956A>CCA406005571BCKDHAc.322A>C (p.Ser108Arg)
c.256A>C (p.Ser86Arg)
n.448A>C
c.424A>C (p.Ser142Arg)
c.129A>C
c.288+140A>C (n.288+140A>C)
19g.41410956A>GCA9461085BCKDHAc.322A>G (p.Ser108Gly)
c.256A>G (p.Ser86Gly)
n.448A>G
c.424A>G (p.Ser142Gly)
c.129A>G
c.288+140A>G (n.288+140A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410956A>TCA406005576BCKDHAc.322A>T (p.Ser108Cys)
c.256A>T (p.Ser86Cys)
n.448A>T
c.424A>T (p.Ser142Cys)
c.129A>T
c.288+140A>T (n.288+140A>T)
19g.41410957G>ACA406005583BCKDHAc.323G>A (p.Ser108Asn)
c.257G>A (p.Ser86Asn)
n.449G>A
c.425G>A (p.Ser142Asn)
c.130G>A
c.288+141G>A (n.288+141G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41410957G>CCA406005592BCKDHAc.323G>C (p.Ser108Thr)
c.257G>C (p.Ser86Thr)
n.449G>C
c.425G>C (p.Ser142Thr)
c.130G>C
c.288+141G>C (n.288+141G>C)
19g.41410957G=CA2336453925BCKDHAc.323G= (p.Ser108=)
c.257G= (p.Ser86=)
n.449G=
c.425G= (p.Ser142=)
c.130G=
c.288+141G= (n.288+141G=)
19g.41410957G>TCA406005586BCKDHAc.323G>T (p.Ser108Ile)
c.257G>T (p.Ser86Ile)
n.449G>T
c.425G>T (p.Ser142Ile)
c.130G>T
c.288+141G>T (n.288+141G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41410958C>ACA406005605BCKDHAc.324C>A (p.Ser108Arg)
c.258C>A (p.Ser86Arg)
n.450C>A
c.426C>A (p.Ser142Arg)
c.131C>A
c.288+142C>A (n.288+142C>A)
19g.41410958C=CA2336453926BCKDHAc.324C= (p.Ser108=)
c.258C= (p.Ser86=)
n.450C=
c.426C= (p.Ser142=)
c.131C=
c.288+142C= (n.288+142C=)
19g.41410958C>GCA406005610BCKDHAc.324C>G (p.Ser108Arg)
c.258C>G (p.Ser86Arg)
n.450C>G
c.426C>G (p.Ser142Arg)
c.131C>G
c.288+142C>G (n.288+142C>G)
19g.41410958C>TCA9461086BCKDHAc.324C>T (p.Ser108=)
c.258C>T (p.Ser86=)
n.450C>T
c.426C>T (p.Ser142=)
c.131C>T
c.288+142C>T (n.288+142C>T)
 ClinVar dbSNP ExAC gnomAD v2
19g.41410959A=CA2336453927BCKDHAc.325A= (p.Met109=)
c.259A= (p.Met87=)
n.451A=
c.427A= (p.Met143=)
c.132A=
c.288+143A= (n.288+143A=)
19g.41410959A>CCA406005621BCKDHAc.325A>C (p.Met109Leu)
c.259A>C (p.Met87Leu)
n.451A>C
c.427A>C (p.Met143Leu)
c.132A>C
c.288+143A>C (n.288+143A>C)
19g.41410959A>GCA406005626BCKDHAc.325A>G (p.Met109Val)
c.259A>G (p.Met87Val)
n.451A>G
c.427A>G (p.Met143Val)
c.132A>G
c.288+143A>G (n.288+143A>G)
 dbSNP gnomAD v4
19g.41410959A>TCA406005630BCKDHAc.325A>T (p.Met109Leu)
c.259A>T (p.Met87Leu)
n.451A>T
c.427A>T (p.Met143Leu)
c.132A>T
c.288+143A>T (n.288+143A>T)
19g.41410960T>ACA9461087BCKDHAc.326T>A (p.Met109Lys)
c.260T>A (p.Met87Lys)
n.452T>A
c.428T>A (p.Met143Lys)
c.133T>A
c.288+144T>A (n.288+144T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410960T>CCA406005641BCKDHAc.326T>C (p.Met109Thr)
c.260T>C (p.Met87Thr)
n.452T>C
c.428T>C (p.Met143Thr)
c.133T>C
c.288+144T>C (n.288+144T>C)
19g.41410960T>GCA406005645BCKDHAc.326T>G (p.Met109Arg)
c.260T>G (p.Met87Arg)
n.452T>G
c.428T>G (p.Met143Arg)
c.133T>G
c.288+144T>G (n.288+144T>G)
19g.41410960T=CA2336453928BCKDHAc.326T= (p.Met109=)
c.260T= (p.Met87=)
n.452T=
c.428T= (p.Met143=)
c.133T=
c.288+144T= (n.288+144T=)
19g.41410961G>ACA406005646BCKDHAc.327G>A (p.Met109Ile)
c.261G>A (p.Met87Ile)
n.453G>A
c.429G>A (p.Met143Ile)
c.134G>A
c.288+145G>A (n.288+145G>A)
 COSMIC
19g.41410961G>CCA406005647BCKDHAc.327G>C (p.Met109Ile)
c.261G>C (p.Met87Ile)
n.453G>C
c.429G>C (p.Met143Ile)
c.134G>C
c.288+145G>C (n.288+145G>C)
19g.41410961G>TCA406005648BCKDHAc.327G>T (p.Met109Ile)
c.261G>T (p.Met87Ile)
n.453G>T
c.429G>T (p.Met143Ile)
c.134G>T
c.288+145G>T (n.288+145G>T)
 gnomAD v4
19g.41410962A=CA2336453929BCKDHAc.328A= (p.Thr110=)
c.262A= (p.Thr88=)
n.454A=
c.430A= (p.Thr144=)
c.135A=
c.288+146A= (n.288+146A=)
19g.41410962A>CCA406005654BCKDHAc.328A>C (p.Thr110Pro)
c.262A>C (p.Thr88Pro)
n.454A>C
c.430A>C (p.Thr144Pro)
c.135A>C
c.288+146A>C (n.288+146A>C)
19g.41410962A>GCA406005653BCKDHAc.328A>G (p.Thr110Ala)
c.262A>G (p.Thr88Ala)
n.454A>G
c.430A>G (p.Thr144Ala)
c.135A>G
c.288+146A>G (n.288+146A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41410962A>TCA406005652BCKDHAc.328A>T (p.Thr110Ser)
c.262A>T (p.Thr88Ser)
n.454A>T
c.430A>T (p.Thr144Ser)
c.135A>T
c.288+146A>T (n.288+146A>T)
 gnomAD v4
19g.41410963C>ACA406005658BCKDHAc.329C>A (p.Thr110Lys)
c.263C>A (p.Thr88Lys)
n.455C>A
c.431C>A (p.Thr144Lys)
c.136C>A
c.288+147C>A (n.288+147C>A)
19g.41410963C=CA2336453930BCKDHAc.329C= (p.Thr110=)
c.263C= (p.Thr88=)
n.455C=
c.431C= (p.Thr144=)
c.136C=
c.288+147C= (n.288+147C=)
19g.41410963C>GCA406005660BCKDHAc.329C>G (p.Thr110Arg)
c.263C>G (p.Thr88Arg)
n.455C>G
c.431C>G (p.Thr144Arg)
c.136C>G
c.288+147C>G (n.288+147C>G)
19g.41410963C>TCA308515736BCKDHAc.329C>T (p.Thr110Ile)
c.263C>T (p.Thr88Ile)
n.455C>T
c.431C>T (p.Thr144Ile)
c.136C>T
c.288+147C>T (n.288+147C>T)
 dbSNP gnomAD v4
19g.41410964A=CA2336453931BCKDHAc.330A= (p.Thr110=)
c.264A= (p.Thr88=)
n.456A=
c.432A= (p.Thr144=)
c.137A=
c.288+148A= (n.288+148A=)
19g.41410964A>CCA507555652BCKDHAc.330A>C (p.Thr110=)
c.264A>C (p.Thr88=)
n.456A>C
c.432A>C (p.Thr144=)
c.137A>C
c.288+148A>C (n.288+148A>C)
19g.41410964A>GCA507555653BCKDHAc.330A>G (p.Thr110=)
c.264A>G (p.Thr88=)
n.456A>G
c.432A>G (p.Thr144=)
c.137A>G
c.288+148A>G (n.288+148A>G)
 ClinVar gnomAD v4
19g.41410964A>TCA9461088BCKDHAc.330A>T (p.Thr110=)
c.264A>T (p.Thr88=)
n.456A>T
c.432A>T (p.Thr144=)
c.137A>T
c.288+148A>T (n.288+148A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410965C>ACA406005672BCKDHAc.331C>A (p.Leu111Met)
c.265C>A (p.Leu89Met)
n.457C>A
c.433C>A (p.Leu145Met)
c.138C>A
c.288+149C>A (n.288+149C>A)
19g.41410965C=CA2336453932BCKDHAc.331C= (p.Leu111=)
c.265C= (p.Leu89=)
n.457C=
c.433C= (p.Leu145=)
c.138C=
c.288+149C= (n.288+149C=)
19g.41410965C>GCA406005674BCKDHAc.331C>G (p.Leu111Val)
c.265C>G (p.Leu89Val)
n.457C>G
c.433C>G (p.Leu145Val)
c.138C>G
c.288+149C>G (n.288+149C>G)
19g.41410965C>TCA507555654BCKDHAc.331C>T (p.Leu111=)
c.265C>T (p.Leu89=)
n.457C>T
c.433C>T (p.Leu145=)
c.138C>T
c.288+149C>T (n.288+149C>T)
 dbSNP gnomAD v4
19g.41410966T>ACA406005680BCKDHAc.332T>A (p.Leu111Gln)
c.266T>A (p.Leu89Gln)
n.458T>A
c.434T>A (p.Leu145Gln)
c.139T>A
c.288+150T>A (n.288+150T>A)
 gnomAD v4
19g.41410966T>CCA406005684BCKDHAc.332T>C (p.Leu111Pro)
c.266T>C (p.Leu89Pro)
n.458T>C
c.434T>C (p.Leu145Pro)
c.139T>C
c.288+150T>C (n.288+150T>C)
 ClinVar dbSNP gnomAD v4
19g.41410966T>GCA406005689BCKDHAc.332T>G (p.Leu111Arg)
c.266T>G (p.Leu89Arg)
n.458T>G
c.434T>G (p.Leu145Arg)
c.139T>G
c.288+150T>G (n.288+150T>G)
19g.41410966T=CA2336453933BCKDHAc.332T= (p.Leu111=)
c.266T= (p.Leu89=)
n.458T=
c.434T= (p.Leu145=)
c.139T=
c.288+150T= (n.288+150T=)
19g.41410967G>ACA507555655BCKDHAc.333G>A (p.Leu111=)
c.267G>A (p.Leu89=)
n.459G>A
c.435G>A (p.Leu145=)
c.140G>A
c.288+151G>A (n.288+151G>A)
19g.41410967G>CCA507555657BCKDHAc.333G>C (p.Leu111=)
c.267G>C (p.Leu89=)
n.459G>C
c.435G>C (p.Leu145=)
c.140G>C
c.288+151G>C (n.288+151G>C)
19g.41410967G>TCA507555656BCKDHAc.333G>T (p.Leu111=)
c.267G>T (p.Leu89=)
n.459G>T
c.435G>T (p.Leu145=)
c.140G>T
c.288+151G>T (n.288+151G>T)
19g.41410968C>ACA406005694BCKDHAc.334C>A (p.Leu112Ile)
c.268C>A (p.Leu90Ile)
n.460C>A
c.436C>A (p.Leu146Ile)
c.141C>A
c.288+152C>A (n.288+152C>A)
 dbSNP
19g.41410968C=CA2336453934BCKDHAc.334C= (p.Leu112=)
c.268C= (p.Leu90=)
n.460C=
c.436C= (p.Leu146=)
c.141C=
c.288+152C= (n.288+152C=)
19g.41410968C>GCA406005696BCKDHAc.334C>G (p.Leu112Val)
c.268C>G (p.Leu90Val)
n.460C>G
c.436C>G (p.Leu146Val)
c.141C>G
c.288+152C>G (n.288+152C>G)
19g.41410968C>TCA406005699BCKDHAc.334C>T (p.Leu112Phe)
c.268C>T (p.Leu90Phe)
n.460C>T
c.436C>T (p.Leu146Phe)
c.141C>T
c.288+152C>T (n.288+152C>T)
19g.41410969T>ACA406005705BCKDHAc.335T>A (p.Leu112His)
c.269T>A (p.Leu90His)
n.461T>A
c.437T>A (p.Leu146His)
c.142T>A
c.288+153T>A (n.288+153T>A)
19g.41410969T>CCA406005707BCKDHAc.335T>C (p.Leu112Pro)
c.269T>C (p.Leu90Pro)
n.461T>C
c.437T>C (p.Leu146Pro)
c.142T>C
c.288+153T>C (n.288+153T>C)
 ClinVar dbSNP
19g.41410969T>GCA406005706BCKDHAc.335T>G (p.Leu112Arg)
c.269T>G (p.Leu90Arg)
n.461T>G
c.437T>G (p.Leu146Arg)
c.142T>G
c.288+153T>G (n.288+153T>G)
19g.41410969T=CA2336453935BCKDHAc.335T= (p.Leu112=)
c.269T= (p.Leu90=)
n.461T=
c.437T= (p.Leu146=)
c.142T=
c.288+153T= (n.288+153T=)
19g.41410970T>ACA507555663BCKDHAc.336T>A (p.Leu112=)
c.270T>A (p.Leu90=)
n.462T>A
c.438T>A (p.Leu146=)
c.143T>A
c.288+154T>A (n.288+154T>A)
 ClinVar dbSNP
19g.41410970T>CCA507555664BCKDHAc.336T>C (p.Leu112=)
c.270T>C (p.Leu90=)
n.462T>C
c.438T>C (p.Leu146=)
c.143T>C
c.288+154T>C (n.288+154T>C)
19g.41410970T>GCA9461089BCKDHAc.336T>G (p.Leu112=)
c.270T>G (p.Leu90=)
n.462T>G
c.438T>G (p.Leu146=)
c.143T>G
c.288+154T>G (n.288+154T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410970T=CA2336453936BCKDHAc.336T= (p.Leu112=)
c.270T= (p.Leu90=)
n.462T=
c.438T= (p.Leu146=)
c.143T=
c.288+154T= (n.288+154T=)
19g.41410971A>CCA406005723BCKDHAc.337A>C (p.Asn113His)
c.271A>C (p.Asn91His)
n.463A>C
c.439A>C (p.Asn147His)
c.144A>C
c.288+155A>C (n.288+155A>C)
19g.41410971A>GCA406005715BCKDHAc.337A>G (p.Asn113Asp)
c.271A>G (p.Asn91Asp)
n.463A>G
c.439A>G (p.Asn147Asp)
c.144A>G
c.288+155A>G (n.288+155A>G)
19g.41410971A>TCA406005718BCKDHAc.337A>T (p.Asn113Tyr)
c.271A>T (p.Asn91Tyr)
n.463A>T
c.439A>T (p.Asn147Tyr)
c.144A>T
c.288+155A>T (n.288+155A>T)
19g.41410972A>CCA406005727BCKDHAc.338A>C (p.Asn113Thr)
c.272A>C (p.Asn91Thr)
n.464A>C
c.440A>C (p.Asn147Thr)
c.145A>C
c.288+156A>C (n.288+156A>C)
19g.41410972A>GCA406005731BCKDHAc.338A>G (p.Asn113Ser)
c.272A>G (p.Asn91Ser)
n.464A>G
c.440A>G (p.Asn147Ser)
c.145A>G
c.288+156A>G (n.288+156A>G)
19g.41410972A>TCA406005736BCKDHAc.338A>T (p.Asn113Ile)
c.272A>T (p.Asn91Ile)
n.464A>T
c.440A>T (p.Asn147Ile)
c.145A>T
c.288+156A>T (n.288+156A>T)
19g.41410973C>ACA406005752BCKDHAc.339C>A (p.Asn113Lys)
c.273C>A (p.Asn91Lys)
n.465C>A
c.441C>A (p.Asn147Lys)
c.146C>A
c.288+157C>A (n.288+157C>A)
19g.41410973C=CA2336453937BCKDHAc.339C= (p.Asn113=)
c.273C= (p.Asn91=)
n.465C=
c.441C= (p.Asn147=)
c.146C=
c.288+157C= (n.288+157C=)
19g.41410973C>GCA406005744BCKDHAc.339C>G (p.Asn113Lys)
c.273C>G (p.Asn91Lys)
n.465C>G
c.441C>G (p.Asn147Lys)
c.146C>G
c.288+157C>G (n.288+157C>G)
19g.41410973C>TCA9461090BCKDHAc.339C>T (p.Asn113=)
c.273C>T (p.Asn91=)
n.465C>T
c.441C>T (p.Asn147=)
c.146C>T
c.288+157C>T (n.288+157C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410974A>CCA406005756BCKDHAc.340A>C (p.Thr114Pro)
c.274A>C (p.Thr92Pro)
n.466A>C
c.442A>C (p.Thr148Pro)
c.147A>C
c.288+158A>C (n.288+158A>C)
19g.41410974A>GCA406005760BCKDHAc.340A>G (p.Thr114Ala)
c.274A>G (p.Thr92Ala)
n.466A>G
c.442A>G (p.Thr148Ala)
c.147A>G
c.288+158A>G (n.288+158A>G)
19g.41410974A>TCA406005761BCKDHAc.340A>T (p.Thr114Ser)
c.274A>T (p.Thr92Ser)
n.466A>T
c.442A>T (p.Thr148Ser)
c.147A>T
c.288+158A>T (n.288+158A>T)
19g.41410975C>ACA406005763BCKDHAc.341C>A (p.Thr114Asn)
c.275C>A (p.Thr92Asn)
n.467C>A
c.443C>A (p.Thr148Asn)
c.148C>A
c.288+159C>A (n.288+159C>A)
19g.41410975C=CA2336453938BCKDHAc.341C= (p.Thr114=)
c.275C= (p.Thr92=)
n.467C=
c.443C= (p.Thr148=)
c.148C=
c.288+159C= (n.288+159C=)
19g.41410975C>GCA9461091BCKDHAc.341C>G (p.Thr114Ser)
c.275C>G (p.Thr92Ser)
n.467C>G
c.443C>G (p.Thr148Ser)
c.148C>G
c.288+159C>G (n.288+159C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410975C>TCA406005767BCKDHAc.341C>T (p.Thr114Ile)
c.275C>T (p.Thr92Ile)
n.467C>T
c.443C>T (p.Thr148Ile)
c.148C>T
c.288+159C>T (n.288+159C>T)
19g.41410976C>ACA507555683BCKDHAc.342C>A (p.Thr114=)
c.276C>A (p.Thr92=)
n.468C>A
c.444C>A (p.Thr148=)
c.149C>A
c.288+160C>A (n.288+160C>A)
19g.41410976C>GCA507555684BCKDHAc.342C>G (p.Thr114=)
c.276C>G (p.Thr92=)
n.468C>G
c.444C>G (p.Thr148=)
c.149C>G
c.288+160C>G (n.288+160C>G)
19g.41410976C>TCA507555685BCKDHAc.342C>T (p.Thr114=)
c.276C>T (p.Thr92=)
n.468C>T
c.444C>T (p.Thr148=)
c.149C>T
c.288+160C>T (n.288+160C>T)
 ClinVar
19g.41410977A>CCA406005768BCKDHAc.343A>C (p.Met115Leu)
c.277A>C (p.Met93Leu)
n.469A>C
c.445A>C (p.Met149Leu)
c.150A>C
c.288+161A>C (n.288+161A>C)
19g.41410977A>GCA406005773BCKDHAc.343A>G (p.Met115Val)
c.277A>G (p.Met93Val)
n.469A>G
c.445A>G (p.Met149Val)
c.150A>G
c.288+161A>G (n.288+161A>G)
19g.41410977A>TCA406005771BCKDHAc.343A>T (p.Met115Leu)
c.277A>T (p.Met93Leu)
n.469A>T
c.445A>T (p.Met149Leu)
c.150A>T
c.288+161A>T (n.288+161A>T)
19g.41410978T>ACA406005776BCKDHAc.344T>A (p.Met115Lys)
c.278T>A (p.Met93Lys)
n.470T>A
c.446T>A (p.Met149Lys)
c.151T>A
c.288+162T>A (n.288+162T>A)
19g.41410978T>CCA406005779BCKDHAc.344T>C (p.Met115Thr)
c.278T>C (p.Met93Thr)
n.470T>C
c.446T>C (p.Met149Thr)
c.151T>C
c.288+162T>C (n.288+162T>C)
19g.41410978T>GCA406005783BCKDHAc.344T>G (p.Met115Arg)
c.278T>G (p.Met93Arg)
n.470T>G
c.446T>G (p.Met149Arg)
c.151T>G
c.288+162T>G (n.288+162T>G)
19g.41410979G>ACA406005786BCKDHAc.345G>A (p.Met115Ile)
c.279G>A (p.Met93Ile)
n.471G>A
c.447G>A (p.Met149Ile)
c.152G>A
c.288+163G>A (n.288+163G>A)
19g.41410979G>CCA406005790BCKDHAc.345G>C (p.Met115Ile)
c.279G>C (p.Met93Ile)
n.471G>C
c.447G>C (p.Met149Ile)
c.152G>C
c.288+163G>C (n.288+163G>C)
19g.41410979G>TCA406005794BCKDHAc.345G>T (p.Met115Ile)
c.279G>T (p.Met93Ile)
n.471G>T
c.447G>T (p.Met149Ile)
c.152G>T
c.288+163G>T (n.288+163G>T)
19g.41410979_41410980delinsAACA645614572BCKDHAc.345_346delinsAA (p.Met115_Asp116delinsIleAsn)
c.279_280delinsAA (p.Met93_Asp94delinsIleAsn)
n.471_472delinsAA
c.447_448delinsAA (p.Met149_Asp150delinsIleAsn)
c.152_153delinsAA
c.288+163_288+164delinsAA (n.288+163_288+164delinsAA)
 COSMIC
19g.41410980G>ACA406005800BCKDHAc.346G>A (p.Asp116Asn)
c.280G>A (p.Asp94Asn)
n.472G>A
c.448G>A (p.Asp150Asn)
c.153G>A
c.288+164G>A (n.288+164G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41410980G>CCA406005802BCKDHAc.346G>C (p.Asp116His)
c.280G>C (p.Asp94His)
n.472G>C
c.448G>C (p.Asp150His)
c.153G>C
c.288+164G>C (n.288+164G>C)
19g.41410980G=CA2336453939BCKDHAc.346G= (p.Asp116=)
c.280G= (p.Asp94=)
n.472G=
c.448G= (p.Asp150=)
c.153G=
c.288+164G= (n.288+164G=)
19g.41410980G>TCA406005810BCKDHAc.346G>T (p.Asp116Tyr)
c.280G>T (p.Asp94Tyr)
n.472G>T
c.448G>T (p.Asp150Tyr)
c.153G>T
c.288+164G>T (n.288+164G>T)
19g.41410981A=CA2336453940BCKDHAc.347A= (p.Asp116=)
c.281A= (p.Asp94=)
n.473A=
c.449A= (p.Asp150=)
c.154A=
c.288+165A= (n.288+165A=)
19g.41410981A>CCA406005814BCKDHAc.347A>C (p.Asp116Ala)
c.281A>C (p.Asp94Ala)
n.473A>C
c.449A>C (p.Asp150Ala)
c.154A>C
c.288+165A>C (n.288+165A>C)
19g.41410981A>GCA221196BCKDHAc.347A>G (p.Asp116Gly)
c.281A>G (p.Asp94Gly)
n.473A>G
c.449A>G (p.Asp150Gly)
c.154A>G
c.288+165A>G (n.288+165A>G)
 ClinVar dbSNP
19g.41410981A>TCA406005822BCKDHAc.347A>T (p.Asp116Val)
c.281A>T (p.Asp94Val)
n.473A>T
c.449A>T (p.Asp150Val)
c.154A>T
c.288+165A>T (n.288+165A>T)
19g.41410982C>ACA406005826BCKDHAc.348C>A (p.Asp116Glu)
c.282C>A (p.Asp94Glu)
n.474C>A
c.450C>A (p.Asp150Glu)
c.155C>A
c.288+166C>A (n.288+166C>A)
19g.41410982C>GCA406005831BCKDHAc.348C>G (p.Asp116Glu)
c.282C>G (p.Asp94Glu)
n.474C>G
c.450C>G (p.Asp150Glu)
c.155C>G
c.288+166C>G (n.288+166C>G)
19g.41410982C>TCA507555706BCKDHAc.348C>T (p.Asp116=)
c.282C>T (p.Asp94=)
n.474C>T
c.450C>T (p.Asp150=)
c.155C>T
c.288+166C>T (n.288+166C>T)
 ClinVar dbSNP
19g.41410983C>ACA406005838BCKDHAc.349C>A (p.Arg117Ser)
c.283C>A (p.Arg95Ser)
n.475C>A
c.451C>A (p.Arg151Ser)
c.156C>A
c.288+167C>A (n.288+167C>A)
19g.41410983C=CA2336453941BCKDHAc.349C= (p.Arg117=)
c.283C= (p.Arg95=)
n.475C=
c.451C= (p.Arg151=)
c.156C=
c.288+167C= (n.288+167C=)
19g.41410983C>GCA406005841BCKDHAc.349C>G (p.Arg117Gly)
c.283C>G (p.Arg95Gly)
n.475C>G
c.451C>G (p.Arg151Gly)
c.156C>G
c.288+167C>G (n.288+167C>G)
19g.41410983C>TCA9461092BCKDHAc.349C>T (p.Arg117Cys)
c.283C>T (p.Arg95Cys)
n.475C>T
c.451C>T (p.Arg151Cys)
c.156C>T
c.288+167C>T (n.288+167C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410984G>ACA9461093BCKDHAc.350G>A (p.Arg117His)
c.284G>A (p.Arg95His)
n.476G>A
c.452G>A (p.Arg151His)
c.157G>A
c.288+168G>A (n.288+168G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41410984G>CCA406005852BCKDHAc.350G>C (p.Arg117Pro)
c.284G>C (p.Arg95Pro)
n.476G>C
c.452G>C (p.Arg151Pro)
c.157G>C
c.288+168G>C (n.288+168G>C)
19g.41410984G=CA2336453942BCKDHAc.350G= (p.Arg117=)
c.284G= (p.Arg95=)
n.476G=
c.452G= (p.Arg151=)
c.157G=
c.288+168G= (n.288+168G=)
19g.41410984G>TCA9461094BCKDHAc.350G>T (p.Arg117Leu)
c.284G>T (p.Arg95Leu)
n.476G>T
c.452G>T (p.Arg151Leu)
c.157G>T
c.288+168G>T (n.288+168G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410985C>ACA507555715BCKDHAc.351C>A (p.Arg117=)
c.285C>A (p.Arg95=)
n.477C>A
c.453C>A (p.Arg151=)
c.158C>A
c.288+169C>A (n.288+169C>A)
19g.41410985C=CA2336453943BCKDHAc.351C= (p.Arg117=)
c.285C= (p.Arg95=)
n.477C=
c.453C= (p.Arg151=)
c.158C=
c.288+169C= (n.288+169C=)
19g.41410985C>GCA507555720BCKDHAc.351C>G (p.Arg117=)
c.285C>G (p.Arg95=)
n.477C>G
c.453C>G (p.Arg151=)
c.158C>G
c.288+169C>G (n.288+169C>G)
19g.41410985C>TCA9461095BCKDHAc.351C>T (p.Arg117=)
c.285C>T (p.Arg95=)
n.477C>T
c.453C>T (p.Arg151=)
c.158C>T
c.288+169C>T (n.288+169C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410986A>CCA406005861BCKDHAc.352A>C (p.Ile118Leu)
c.286A>C (p.Ile96Leu)
n.478A>C
c.454A>C (p.Ile152Leu)
c.159A>C
c.288+170A>C (n.288+170A>C)
19g.41410986A>GCA406005868BCKDHAc.352A>G (p.Ile118Val)
c.286A>G (p.Ile96Val)
n.478A>G
c.454A>G (p.Ile152Val)
c.159A>G
c.288+170A>G (n.288+170A>G)
19g.41410986A>TCA406005864BCKDHAc.352A>T (p.Ile118Phe)
c.286A>T (p.Ile96Phe)
n.478A>T
c.454A>T (p.Ile152Phe)
c.159A>T
c.288+170A>T (n.288+170A>T)
19g.41410987T>ACA406005874BCKDHAc.353T>A (p.Ile118Asn)
c.287T>A (p.Ile96Asn)
n.479T>A
c.455T>A (p.Ile152Asn)
c.160T>A
c.288+171T>A (n.288+171T>A)
 gnomAD v4
19g.41410987T>CCA406005878BCKDHAc.353T>C (p.Ile118Thr)
c.287T>C (p.Ile96Thr)
n.479T>C
c.455T>C (p.Ile152Thr)
c.160T>C
c.288+171T>C (n.288+171T>C)
 gnomAD v4
19g.41410987T>GCA406005881BCKDHAc.353T>G (p.Ile118Ser)
c.287T>G (p.Ile96Ser)
n.479T>G
c.455T>G (p.Ile152Ser)
c.160T>G
c.288+171T>G (n.288+171T>G)
19g.41410988C>ACA507555740BCKDHAc.354C>A (p.Ile118=)
c.288C>A (p.Ile96=)
n.480C>A
c.456C>A (p.Ile152=)
c.161C>A
c.288+172C>A (n.288+172C>A)
19g.41410988C=CA2336453944BCKDHAc.354C= (p.Ile118=)
c.288C= (p.Ile96=)
n.480C=
c.456C= (p.Ile152=)
c.161C=
c.288+172C= (n.288+172C=)
19g.41410988C>GCA406005884BCKDHAc.354C>G (p.Ile118Met)
c.288C>G (p.Ile96Met)
n.480C>G
c.456C>G (p.Ile152Met)
c.161C>G
c.288+172C>G (n.288+172C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41410988C>TCA507555742BCKDHAc.354C>T (p.Ile118=)
c.288C>T (p.Ile96=)
n.480C>T
c.456C>T (p.Ile152=)
c.161C>T
c.288+172C>T (n.288+172C>T)
19g.41410989C>ACA406005889BCKDHAc.355C>A (p.Leu119Ile)
c.289C>A (p.Leu97Ile)
n.481C>A
c.457C>A (p.Leu153Ile)
c.162C>A
c.288+173C>A (n.288+173C>A)
19g.41410989C=CA2336453945BCKDHAc.355C= (p.Leu119=)
c.289C= (p.Leu97=)
n.481C=
c.457C= (p.Leu153=)
c.162C=
c.288+173C= (n.288+173C=)
19g.41410989C>GCA406005899BCKDHAc.355C>G (p.Leu119Val)
c.289C>G (p.Leu97Val)
n.481C>G
c.457C>G (p.Leu153Val)
c.162C>G
c.288+173C>G (n.288+173C>G)
19g.41410989C>TCA308515748BCKDHAc.355C>T (p.Leu119Phe)
c.289C>T (p.Leu97Phe)
n.481C>T
c.457C>T (p.Leu153Phe)
c.162C>T
c.288+173C>T (n.288+173C>T)
 dbSNP gnomAD v4
19g.41410991_41410992delCA2580614905BCKDHAc.357_358del (p.Tyr120Ter)
c.291_292del (p.Tyr98Ter)
n.483_484del
c.459_460del (p.Tyr154Ter)
c.164_165del
c.288+175_288+176del (n.288+175_288+176del)
 ClinVar dbSNP
19g.41410990T>ACA406005902BCKDHAc.356T>A (p.Leu119His)
c.290T>A (p.Leu97His)
n.482T>A
c.458T>A (p.Leu153His)
c.163T>A
c.288+174T>A (n.288+174T>A)
19g.41410990T>CCA406005938BCKDHAc.356T>C (p.Leu119Pro)
c.290T>C (p.Leu97Pro)
n.482T>C
c.458T>C (p.Leu153Pro)
c.163T>C
c.288+174T>C (n.288+174T>C)
19g.41410990T>GCA406005942BCKDHAc.356T>G (p.Leu119Arg)
c.290T>G (p.Leu97Arg)
n.482T>G
c.458T>G (p.Leu153Arg)
c.163T>G
c.288+174T>G (n.288+174T>G)
19g.41410991C>ACA507555751BCKDHAc.357C>A (p.Leu119=)
c.291C>A (p.Leu97=)
n.483C>A
c.459C>A (p.Leu153=)
c.164C>A
c.288+175C>A (n.288+175C>A)
19g.41410991C=CA2336453946BCKDHAc.357C= (p.Leu119=)
c.291C= (p.Leu97=)
n.483C=
c.459C= (p.Leu153=)
c.164C=
c.288+175C= (n.288+175C=)
19g.41410991C>GCA507555754BCKDHAc.357C>G (p.Leu119=)
c.291C>G (p.Leu97=)
n.483C>G
c.459C>G (p.Leu153=)
c.164C>G
c.288+175C>G (n.288+175C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41410991C>TCA507555755BCKDHAc.357C>T (p.Leu119=)
c.291C>T (p.Leu97=)
n.483C>T
c.459C>T (p.Leu153=)
c.164C>T
c.288+175C>T (n.288+175C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410992T>ACA406005947BCKDHAc.358T>A (p.Tyr120Asn)
c.292T>A (p.Tyr98Asn)
n.484T>A
c.460T>A (p.Tyr154Asn)
c.165T>A
c.288+176T>A (n.288+176T>A)
19g.41410992T>CCA406005951BCKDHAc.358T>C (p.Tyr120His)
c.292T>C (p.Tyr98His)
n.484T>C
c.460T>C (p.Tyr154His)
c.165T>C
c.288+176T>C (n.288+176T>C)
 dbSNP
19g.41410992T>GCA406005954BCKDHAc.358T>G (p.Tyr120Asp)
c.292T>G (p.Tyr98Asp)
n.484T>G
c.460T>G (p.Tyr154Asp)
c.165T>G
c.288+176T>G (n.288+176T>G)
19g.41410993_41410994delCA2735979435BCKDHAc.359_360del (p.Tyr120Ter)
c.293_294del (p.Tyr98Ter)
n.485_486del
c.461_462del (p.Tyr154Ter)
c.166_167del
c.288+177_288+178del (n.288+177_288+178del)
 dbSNP
19g.41410993A=CA2336453947BCKDHAc.359A= (p.Tyr120=)
c.293A= (p.Tyr98=)
n.485A=
c.461A= (p.Tyr154=)
c.166A=
c.288+177A= (n.288+177A=)
19g.41410993A>CCA406005958BCKDHAc.359A>C (p.Tyr120Ser)
c.293A>C (p.Tyr98Ser)
n.485A>C
c.461A>C (p.Tyr154Ser)
c.166A>C
c.288+177A>C (n.288+177A>C)
19g.41410993A>GCA9461096BCKDHAc.359A>G (p.Tyr120Cys)
c.293A>G (p.Tyr98Cys)
n.485A>G
c.461A>G (p.Tyr154Cys)
c.166A>G
c.288+177A>G (n.288+177A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410993A>TCA406005966BCKDHAc.359A>T (p.Tyr120Phe)
c.293A>T (p.Tyr98Phe)
n.485A>T
c.461A>T (p.Tyr154Phe)
c.166A>T
c.288+177A>T (n.288+177A>T)
19g.41410994T>ACA406005971BCKDHAc.360T>A (p.Tyr120Ter)
c.294T>A (p.Tyr98Ter)
n.486T>A
c.462T>A (p.Tyr154Ter)
c.167T>A
c.288+178T>A (n.288+178T>A)
19g.41410994T>CCA507555765BCKDHAc.360T>C (p.Tyr120=)
c.294T>C (p.Tyr98=)
n.486T>C
c.462T>C (p.Tyr154=)
c.167T>C
c.288+178T>C (n.288+178T>C)
19g.41410994T>GCA406005974BCKDHAc.360T>G (p.Tyr120Ter)
c.294T>G (p.Tyr98Ter)
n.486T>G
c.462T>G (p.Tyr154Ter)
c.167T>G
c.288+178T>G (n.288+178T>G)
19g.41410995G>ACA406005979BCKDHAc.361G>A (p.Glu121Lys)
c.295G>A (p.Glu99Lys)
n.487G>A
c.463G>A (p.Glu155Lys)
c.168G>A
c.288+179G>A (n.288+179G>A)
 dbSNP gnomAD v4
19g.41410995G>CCA406005989BCKDHAc.361G>C (p.Glu121Gln)
c.295G>C (p.Glu99Gln)
n.487G>C
c.463G>C (p.Glu155Gln)
c.168G>C
c.288+179G>C (n.288+179G>C)
19g.41410995G=CA2336453948BCKDHAc.361G= (p.Glu121=)
c.295G= (p.Glu99=)
n.487G=
c.463G= (p.Glu155=)
c.168G=
c.288+179G= (n.288+179G=)
19g.41410995G>TCA406005986BCKDHAc.361G>T (p.Glu121Ter)
c.295G>T (p.Glu99Ter)
n.487G>T
c.463G>T (p.Glu155Ter)
c.168G>T
c.288+179G>T (n.288+179G>T)
19g.41410996A>CCA406005993BCKDHAc.362A>C (p.Glu121Ala)
c.296A>C (p.Glu99Ala)
n.488A>C
c.464A>C (p.Glu155Ala)
c.169A>C
c.288+180A>C (n.288+180A>C)
19g.41410996A>GCA406006008BCKDHAc.362A>G (p.Glu121Gly)
c.296A>G (p.Glu99Gly)
n.488A>G
c.464A>G (p.Glu155Gly)
c.169A>G
c.288+180A>G (n.288+180A>G)
19g.41410996A>TCA406006004BCKDHAc.362A>T (p.Glu121Val)
c.296A>T (p.Glu99Val)
n.488A>T
c.464A>T (p.Glu155Val)
c.169A>T
c.288+180A>T (n.288+180A>T)
19g.41410997G>ACA507555774BCKDHAc.363G>A (p.Glu121=)
c.297G>A (p.Glu99=)
n.489G>A
c.465G>A (p.Glu155=)
c.170G>A
c.288+181G>A (n.288+181G>A)
19g.41410997G>CCA406006014BCKDHAc.363G>C (p.Glu121Asp)
c.297G>C (p.Glu99Asp)
n.489G>C
c.465G>C (p.Glu155Asp)
c.170G>C
c.288+181G>C (n.288+181G>C)
19g.41410997G>TCA406006017BCKDHAc.363G>T (p.Glu121Asp)
c.297G>T (p.Glu99Asp)
n.489G>T
c.465G>T (p.Glu155Asp)
c.170G>T
c.288+181G>T (n.288+181G>T)
19g.41410998T>ACA406006022BCKDHAc.364T>A (p.Ser122Thr)
c.298T>A (p.Ser100Thr)
n.490T>A
c.466T>A (p.Ser156Thr)
c.171T>A
c.288+182T>A (n.288+182T>A)
19g.41410998T>CCA406006025BCKDHAc.364T>C (p.Ser122Pro)
c.298T>C (p.Ser100Pro)
n.490T>C
c.466T>C (p.Ser156Pro)
c.171T>C
c.288+182T>C (n.288+182T>C)
19g.41410998T>GCA406006034BCKDHAc.364T>G (p.Ser122Ala)
c.298T>G (p.Ser100Ala)
n.490T>G
c.466T>G (p.Ser156Ala)
c.171T>G
c.288+182T>G (n.288+182T>G)
19g.41410999C>ACA406006036BCKDHAc.365C>A (p.Ser122Tyr)
c.299C>A (p.Ser100Tyr)
n.491C>A
c.467C>A (p.Ser156Tyr)
c.172C>A
c.288+183C>A (n.288+183C>A)
19g.41410999C=CA2336453949BCKDHAc.365C= (p.Ser122=)
c.299C= (p.Ser100=)
n.491C=
c.467C= (p.Ser156=)
c.172C=
c.288+183C= (n.288+183C=)
19g.41410999C>GCA406006037BCKDHAc.365C>G (p.Ser122Cys)
c.299C>G (p.Ser100Cys)
n.491C>G
c.467C>G (p.Ser156Cys)
c.172C>G
c.288+183C>G (n.288+183C>G)
19g.41410999C>TCA406006038BCKDHAc.365C>T (p.Ser122Phe)
c.299C>T (p.Ser100Phe)
n.491C>T
c.467C>T (p.Ser156Phe)
c.172C>T
c.288+183C>T (n.288+183C>T)
 dbSNP gnomAD v4
19g.41411000T>ACA507555786BCKDHAc.366T>A (p.Ser122=)
c.300T>A (p.Ser100=)
n.492T>A
c.468T>A (p.Ser156=)
c.173T>A
c.288+184T>A (n.288+184T>A)
19g.41411000T>CCA507555787BCKDHAc.366T>C (p.Ser122=)
c.300T>C (p.Ser100=)
n.492T>C
c.468T>C (p.Ser156=)
c.173T>C
c.288+184T>C (n.288+184T>C)
19g.41411000T>GCA507555790BCKDHAc.366T>G (p.Ser122=)
c.300T>G (p.Ser100=)
n.492T>G
c.468T>G (p.Ser156=)
c.173T>G
c.288+184T>G (n.288+184T>G)
19g.41411001C>ACA406006042BCKDHAc.367C>A (p.Gln123Lys)
c.301C>A (p.Gln101Lys)
n.493C>A
c.469C>A (p.Gln157Lys)
c.174C>A
c.288+185C>A (n.288+185C>A)
19g.41411001C=CA2336453950BCKDHAc.367C= (p.Gln123=)
c.301C= (p.Gln101=)
n.493C=
c.469C= (p.Gln157=)
c.174C=
c.288+185C= (n.288+185C=)
19g.41411001C>GCA406006044BCKDHAc.367C>G (p.Gln123Glu)
c.301C>G (p.Gln101Glu)
n.493C>G
c.469C>G (p.Gln157Glu)
c.174C>G
c.288+185C>G (n.288+185C>G)
19g.41411001C>TCA406006048BCKDHAc.367C>T (p.Gln123Ter)
c.301C>T (p.Gln101Ter)
n.493C>T
c.469C>T (p.Gln157Ter)
c.174C>T
c.288+185C>T (n.288+185C>T)
 ClinVar dbSNP gnomAD v4
19g.41411002A>CCA406006069BCKDHAc.368A>C (p.Gln123Pro)
c.302A>C (p.Gln101Pro)
n.494A>C
c.470A>C (p.Gln157Pro)
c.175A>C
c.288+186A>C (n.288+186A>C)
 gnomAD v4
19g.41411002A>GCA406006054BCKDHAc.368A>G (p.Gln123Arg)
c.302A>G (p.Gln101Arg)
n.494A>G
c.470A>G (p.Gln157Arg)
c.175A>G
c.288+186A>G (n.288+186A>G)
19g.41411002A>TCA406006059BCKDHAc.368A>T (p.Gln123Leu)
c.302A>T (p.Gln101Leu)
n.494A>T
c.470A>T (p.Gln157Leu)
c.175A>T
c.288+186A>T (n.288+186A>T)
19g.41411003G>ACA507555815BCKDHAc.369G>A (p.Gln123=)
c.303G>A (p.Gln101=)
n.495G>A
c.471G>A (p.Gln157=)
c.176G>A
c.288+187G>A (n.288+187G>A)
19g.41411003G>CCA406006075BCKDHAc.369G>C (p.Gln123His)
c.303G>C (p.Gln101His)
n.495G>C
c.471G>C (p.Gln157His)
c.176G>C
c.288+187G>C (n.288+187G>C)
19g.41411003G>TCA406006079BCKDHAc.369G>T (p.Gln123His)
c.303G>T (p.Gln101His)
n.495G>T
c.471G>T (p.Gln157His)
c.176G>T
c.288+187G>T (n.288+187G>T)
19g.41411004C>ACA507555818BCKDHAc.370C>A (p.Arg124=)
c.304C>A (p.Arg102=)
n.496C>A
c.472C>A (p.Arg158=)
c.177C>A
c.288+188C>A (n.288+188C>A)
19g.41411004C=CA2336453951BCKDHAc.370C= (p.Arg124=)
c.304C= (p.Arg102=)
n.496C=
c.472C= (p.Arg158=)
c.177C=
c.288+188C= (n.288+188C=)
19g.41411004C>GCA406006082BCKDHAc.370C>G (p.Arg124Gly)
c.304C>G (p.Arg102Gly)
n.496C>G
c.472C>G (p.Arg158Gly)
c.177C>G
c.288+188C>G (n.288+188C>G)
19g.41411004C>TCA221198BCKDHAc.370C>T (p.Arg124Trp)
c.304C>T (p.Arg102Trp)
n.496C>T
c.472C>T (p.Arg158Trp)
c.177C>T
c.288+188C>T (n.288+188C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411005G>ACA9461097BCKDHAc.371G>A (p.Arg124Gln)
c.305G>A (p.Arg102Gln)
n.497G>A
c.473G>A (p.Arg158Gln)
c.178G>A
c.288+189G>A (n.288+189G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41411005G>CCA406006091BCKDHAc.371G>C (p.Arg124Pro)
c.305G>C (p.Arg102Pro)
n.497G>C
c.473G>C (p.Arg158Pro)
c.178G>C
c.288+189G>C (n.288+189G>C)
 ClinVar dbSNP
19g.41411005G=CA2336453952BCKDHAc.371G= (p.Arg124=)
c.305G= (p.Arg102=)
n.497G=
c.473G= (p.Arg158=)
c.178G=
c.288+189G= (n.288+189G=)
19g.41411005G>TCA406006096BCKDHAc.371G>T (p.Arg124Leu)
c.305G>T (p.Arg102Leu)
n.497G>T
c.473G>T (p.Arg158Leu)
c.178G>T
c.288+189G>T (n.288+189G>T)
19g.41411006G>ACA507555825BCKDHAc.372G>A (p.Arg124=)
c.306G>A (p.Arg102=)
n.498G>A
c.474G>A (p.Arg158=)
c.179G>A
c.288+190G>A (n.288+190G>A)
19g.41411006G>CCA507555827BCKDHAc.372G>C (p.Arg124=)
c.306G>C (p.Arg102=)
n.498G>C
c.474G>C (p.Arg158=)
c.179G>C
c.288+190G>C (n.288+190G>C)
19g.41411006G>TCA507555829BCKDHAc.372G>T (p.Arg124=)
c.306G>T (p.Arg102=)
n.498G>T
c.474G>T (p.Arg158=)
c.179G>T
c.288+190G>T (n.288+190G>T)
19g.41411007C>ACA406006103BCKDHAc.373C>A (p.Gln125Lys)
c.307C>A (p.Gln103Lys)
n.499C>A
c.475C>A (p.Gln159Lys)
c.180C>A
c.288+191C>A (n.288+191C>A)
19g.41411007C=CA2336453953BCKDHAc.373C= (p.Gln125=)
c.307C= (p.Gln103=)
n.499C=
c.475C= (p.Gln159=)
c.180C=
c.288+191C= (n.288+191C=)
19g.41411007C>GCA406006106BCKDHAc.373C>G (p.Gln125Glu)
c.307C>G (p.Gln103Glu)
n.499C>G
c.475C>G (p.Gln159Glu)
c.180C>G
c.288+191C>G (n.288+191C>G)
19g.41411007C>TCA406006111BCKDHAc.373C>T (p.Gln125Ter)
c.307C>T (p.Gln103Ter)
n.499C>T
c.475C>T (p.Gln159Ter)
c.180C>T
c.288+191C>T (n.288+191C>T)
19g.41411008A>CCA406006125BCKDHAc.374A>C (p.Gln125Pro)
c.308A>C (p.Gln103Pro)
n.500A>C
c.476A>C (p.Gln159Pro)
c.181A>C
c.288+192A>C (n.288+192A>C)
19g.41411008A>GCA406006129BCKDHAc.374A>G (p.Gln125Arg)
c.308A>G (p.Gln103Arg)
n.500A>G
c.476A>G (p.Gln159Arg)
c.181A>G
c.288+192A>G (n.288+192A>G)
19g.41411008A>TCA406006116BCKDHAc.374A>T (p.Gln125Leu)
c.308A>T (p.Gln103Leu)
n.500A>T
c.476A>T (p.Gln159Leu)
c.181A>T
c.288+192A>T (n.288+192A>T)
19g.41411011_41411030dupCA2336453954BCKDHAc.375+2_375+21dup
c.309+2_309+21dup
n.501+2_501+21dup
c.477+2_477+21dup
c.182+2_182+21dup
c.288+195_288+214dup (n.288+195_288+214dup)
 dbSNP
19g.41411009G>ACA507555837BCKDHAc.375G>A (p.Gln125=)
c.309G>A (p.Gln103=)
n.501G>A
c.477G>A (p.Gln159=)
c.182G>A
c.288+193G>A (n.288+193G>A)
19g.41411009G>CCA406006133BCKDHAc.375G>C (p.Gln125His)
c.309G>C (p.Gln103His)
n.501G>C
c.477G>C (p.Gln159His)
c.182G>C
c.288+193G>C (n.288+193G>C)
19g.41411009G>TCA406006136BCKDHAc.375G>T (p.Gln125His)
c.309G>T (p.Gln103His)
n.501G>T
c.477G>T (p.Gln159His)
c.182G>T
c.288+193G>T (n.288+193G>T)
19g.41411010G>ACA406006142BCKDHAc.375+1G>A (n.375+1G>A)
c.309+1G>A (n.309+1G>A)
n.501+1G>A
c.477+1G>A (n.477+1G>A)
c.182+1G>A
c.288+194G>A (n.288+194G>A)
 ClinVar gnomAD v4
19g.41411010G>CCA406006146BCKDHAc.375+1G>C (n.375+1G>C)
c.309+1G>C (n.309+1G>C)
n.501+1G>C
c.477+1G>C (n.477+1G>C)
c.182+1G>C
c.288+194G>C (n.288+194G>C)
19g.41411010G>TCA406006148BCKDHAc.375+1G>T (n.375+1G>T)
c.309+1G>T (n.309+1G>T)
n.501+1G>T
c.477+1G>T (n.477+1G>T)
c.182+1G>T
c.288+194G>T (n.288+194G>T)
19g.41411011T>ACA406006152BCKDHAc.375+2T>A (n.375+2T>A)
c.309+2T>A (n.309+2T>A)
n.501+2T>A
c.477+2T>A (n.477+2T>A)
c.182+2T>A
c.288+195T>A (n.288+195T>A)
19g.41411011T>CCA406006155BCKDHAc.375+2T>C (n.375+2T>C)
c.309+2T>C (n.309+2T>C)
n.501+2T>C
c.477+2T>C (n.477+2T>C)
c.182+2T>C
c.288+195T>C (n.288+195T>C)
19g.41411011T>GCA9461098BCKDHAc.375+2T>G (n.375+2T>G)
c.309+2T>G (n.309+2T>G)
n.501+2T>G
c.477+2T>G (n.477+2T>G)
c.182+2T>G
c.288+195T>G (n.288+195T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41411011T=CA2336453955BCKDHAc.375+2T= (n.375+2T=)
c.309+2T= (n.309+2T=)
n.501+2T=
c.477+2T= (n.477+2T=)
c.182+2T=
c.288+195T= (n.288+195T=)
19g.41411012G>ACA2585306839BCKDHAc.375+3G>A (n.375+3G>A)
c.309+3G>A (n.309+3G>A)
n.501+3G>A
c.477+3G>A (n.477+3G>A)
c.182+3G>A
c.288+196G>A (n.288+196G>A)
 gnomAD v4
19g.41411013C=CA2336453956BCKDHAc.375+4C= (n.375+4C=)
c.309+4C= (n.309+4C=)
n.501+4C=
c.477+4C= (n.477+4C=)
c.182+4C=
c.288+197C= (n.288+197C=)
19g.41411013C>TCA9461099BCKDHAc.375+4C>T (n.375+4C>T)
c.309+4C>T (n.309+4C>T)
n.501+4C>T
c.477+4C>T (n.477+4C>T)
c.182+4C>T
c.288+197C>T (n.288+197C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411014G>ACA9461100BCKDHAc.375+5G>A (n.375+5G>A)
c.309+5G>A (n.309+5G>A)
n.501+5G>A
c.477+5G>A (n.477+5G>A)
c.182+5G>A
c.288+198G>A (n.288+198G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411014G>CCA2814435382BCKDHAc.375+5G>C (n.375+5G>C)
c.309+5G>C (n.309+5G>C)
n.501+5G>C
c.477+5G>C (n.477+5G>C)
c.182+5G>C
c.288+198G>C (n.288+198G>C)
19g.41411014G=CA2336453957BCKDHAc.375+5G= (n.375+5G=)
c.309+5G= (n.309+5G=)
n.501+5G=
c.477+5G= (n.477+5G=)
c.182+5G=
c.288+198G= (n.288+198G=)
19g.41411014G>TCA2336453958BCKDHAc.375+5G>T (n.375+5G>T)
c.309+5G>T (n.309+5G>T)
n.501+5G>T
c.477+5G>T (n.477+5G>T)
c.182+5G>T
c.288+198G>T (n.288+198G>T)
 dbSNP gnomAD v4
19g.41411015T>GCA2336453960BCKDHAc.375+6T>G (n.375+6T>G)
c.309+6T>G (n.309+6T>G)
n.501+6T>G
c.477+6T>G (n.477+6T>G)
c.182+6T>G
c.288+199T>G (n.288+199T>G)
 dbSNP
19g.41411015T=CA2336453959BCKDHAc.375+6T= (n.375+6T=)
c.309+6T= (n.309+6T=)
n.501+6T=
c.477+6T= (n.477+6T=)
c.182+6T=
c.288+199T= (n.288+199T=)
19g.41411016G>ACA2739276853BCKDHAc.375+7G>A (n.375+7G>A)
c.309+7G>A (n.309+7G>A)
n.501+7G>A
c.477+7G>A (n.477+7G>A)
c.182+7G>A
c.288+200G>A (n.288+200G>A)
 ClinVar
19g.41411019delCA2576793748BCKDHAc.375+10del (n.375+10del)
c.309+10del (n.309+10del)
n.501+10del
c.477+10del (n.477+10del)
c.182+10del
c.288+203del (n.288+203del)
19g.41411017G>CCA633165037BCKDHAc.375+8G>C (n.375+8G>C)
c.309+8G>C (n.309+8G>C)
n.501+8G>C
c.477+8G>C (n.477+8G>C)
c.182+8G>C
c.288+201G>C (n.288+201G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41411017G=CA2336453961BCKDHAc.375+8G= (n.375+8G=)
c.309+8G= (n.309+8G=)
n.501+8G=
c.477+8G= (n.477+8G=)
c.182+8G=
c.288+201G= (n.288+201G=)
19g.41411018G>ACA2573156388BCKDHAc.375+9G>A (n.375+9G>A)
c.309+9G>A (n.309+9G>A)
n.501+9G>A
c.477+9G>A (n.477+9G>A)
c.182+9G>A
c.288+202G>A (n.288+202G>A)
 ClinVar dbSNP
19g.41411018G>CCA2585306840BCKDHAc.375+9G>C (n.375+9G>C)
c.309+9G>C (n.309+9G>C)
n.501+9G>C
c.477+9G>C (n.477+9G>C)
c.182+9G>C
c.288+202G>C (n.288+202G>C)
 gnomAD v4
19g.41411018G>TCA2560875955BCKDHAc.375+9G>T (n.375+9G>T)
c.309+9G>T (n.309+9G>T)
n.501+9G>T
c.477+9G>T (n.477+9G>T)
c.182+9G>T
c.288+202G>T (n.288+202G>T)
19g.41411019G>ACA308515770BCKDHAc.375+10G>A (n.375+10G>A)
c.309+10G>A (n.309+10G>A)
n.501+10G>A
c.477+10G>A (n.477+10G>A)
c.182+10G>A
c.288+203G>A (n.288+203G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41411019G>CCA2336453963BCKDHAc.375+10G>C (n.375+10G>C)
c.309+10G>C (n.309+10G>C)
n.501+10G>C
c.477+10G>C (n.477+10G>C)
c.182+10G>C
c.288+203G>C (n.288+203G>C)
 dbSNP
19g.41411019G=CA2336453962BCKDHAc.375+10G= (n.375+10G=)
c.309+10G= (n.309+10G=)
n.501+10G=
c.477+10G= (n.477+10G=)
c.182+10G=
c.288+203G= (n.288+203G=)
19g.41411020A=CA2336453965BCKDHAc.375+11A= (n.375+11A=)
c.309+11A= (n.309+11A=)
n.501+11A=
c.477+11A= (n.477+11A=)
c.182+11A=
c.288+204A= (n.288+204A=)
19g.41411020A>GCA2336453964BCKDHAc.375+11A>G (n.375+11A>G)
c.309+11A>G (n.309+11A>G)
n.501+11A>G
c.477+11A>G (n.477+11A>G)
c.182+11A>G
c.288+204A>G (n.288+204A>G)
 dbSNP
19g.41411021C>ACA2336453967BCKDHAc.375+12C>A (n.375+12C>A)
c.309+12C>A (n.309+12C>A)
n.501+12C>A
c.477+12C>A (n.477+12C>A)
c.182+12C>A
c.288+205C>A (n.288+205C>A)
 dbSNP
19g.41411021C=CA2336453966BCKDHAc.375+12C= (n.375+12C=)
c.309+12C= (n.309+12C=)
n.501+12C=
c.477+12C= (n.477+12C=)
c.182+12C=
c.288+205C= (n.288+205C=)
19g.41411021C>TCA9461101BCKDHAc.375+12C>T (n.375+12C>T)
c.309+12C>T (n.309+12C>T)
n.501+12C>T
c.477+12C>T (n.477+12C>T)
c.182+12C>T
c.288+205C>T (n.288+205C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411022A=CA2336453968BCKDHAc.375+13A= (n.375+13A=)
c.309+13A= (n.309+13A=)
n.501+13A=
c.477+13A= (n.477+13A=)
c.182+13A=
c.288+206A= (n.288+206A=)
19g.41411022A>GCA2336453969BCKDHAc.375+13A>G (n.375+13A>G)
c.309+13A>G (n.309+13A>G)
n.501+13A>G
c.477+13A>G (n.477+13A>G)
c.182+13A>G
c.288+206A>G (n.288+206A>G)
 dbSNP gnomAD v4
19g.41411024G>ACA2336453971BCKDHAc.375+15G>A (n.375+15G>A)
c.309+15G>A (n.309+15G>A)
n.501+15G>A
c.477+15G>A (n.477+15G>A)
c.182+15G>A
c.288+208G>A (n.288+208G>A)
 dbSNP
19g.41411024G=CA2336453970BCKDHAc.375+15G= (n.375+15G=)
c.309+15G= (n.309+15G=)
n.501+15G=
c.477+15G= (n.477+15G=)
c.182+15G=
c.288+208G= (n.288+208G=)
19g.41411025A>GCA2585306841BCKDHAc.375+16A>G (n.375+16A>G)
c.309+16A>G (n.309+16A>G)
n.501+16A>G
c.477+16A>G (n.477+16A>G)
c.182+16A>G
c.288+209A>G (n.288+209A>G)
 ClinVar gnomAD v4
19g.41411025_41411026delinsACCA2336453972BCKDHAc.375+16_375+17delinsAC (n.375+16_375+17delinsAC)
c.309+16_309+17delinsAC (n.309+16_309+17delinsAC)
n.501+16_501+17delinsAC
c.477+16_477+17delinsAC (n.477+16_477+17delinsAC)
c.182+16_182+17delinsAC
c.288+209_288+210delinsAC (n.288+209_288+210delinsAC)
19g.41411026delCA308515774BCKDHAc.375+17del (n.375+17del)
c.309+17del (n.309+17del)
n.501+17del
c.477+17del (n.477+17del)
c.182+17del
c.288+210del (n.288+210del)
 dbSNP
19g.41411026C>TCA2739276854BCKDHAc.375+17C>T (n.375+17C>T)
c.309+17C>T (n.309+17C>T)
n.501+17C>T
c.477+17C>T (n.477+17C>T)
c.182+17C>T
c.288+210C>T (n.288+210C>T)
 ClinVar
19g.41411027T>CCA308515799BCKDHAc.375+18T>C (n.375+18T>C)
c.309+18T>C (n.309+18T>C)
n.501+18T>C
c.477+18T>C (n.477+18T>C)
c.182+18T>C
c.288+211T>C (n.288+211T>C)
 dbSNP
19g.41411027T=CA2336453973BCKDHAc.375+18T= (n.375+18T=)
c.309+18T= (n.309+18T=)
n.501+18T=
c.477+18T= (n.477+18T=)
c.182+18T=
c.288+211T= (n.288+211T=)
19g.41411027_41411028delinsTACA2336453974BCKDHAc.375+18_375+19delinsTA (n.375+18_375+19delinsTA)
c.309+18_309+19delinsTA (n.309+18_309+19delinsTA)
n.501+18_501+19delinsTA
c.477+18_477+19delinsTA (n.477+18_477+19delinsTA)
c.182+18_182+19delinsTA
c.288+211_288+212delinsTA (n.288+211_288+212delinsTA)
19g.41411028delCA633165038BCKDHAc.375+19del (n.375+19del)
c.309+19del (n.309+19del)
n.501+19del
c.477+19del (n.477+19del)
c.182+19del
c.288+212del (n.288+212del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41411028A=CA2336453975BCKDHAc.375+19A= (n.375+19A=)
c.309+19A= (n.309+19A=)
n.501+19A=
c.477+19A= (n.477+19A=)
c.182+19A=
c.288+212A= (n.288+212A=)
19g.41411028A>GCA633165039BCKDHAc.375+19A>G (n.375+19A>G)
c.309+19A>G (n.309+19A>G)
n.501+19A>G
c.477+19A>G (n.477+19A>G)
c.182+19A>G
c.288+212A>G (n.288+212A>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41411029G>ACA2336453976BCKDHAc.375+20G>A (n.375+20G>A)
c.309+20G>A (n.309+20G>A)
n.501+20G>A
c.477+20G>A (n.477+20G>A)
c.182+20G>A
c.288+213G>A (n.288+213G>A)
 dbSNP
19g.41411029G=CA2336453977BCKDHAc.375+20G= (n.375+20G=)
c.309+20G= (n.309+20G=)
n.501+20G=
c.477+20G= (n.477+20G=)
c.182+20G=
c.288+213G= (n.288+213G=)
19g.41411029G>TCA2735922989BCKDHAc.375+20G>T (n.375+20G>T)
c.309+20G>T (n.309+20G>T)
n.501+20G>T
c.477+20G>T (n.477+20G>T)
c.182+20G>T
c.288+213G>T (n.288+213G>T)
 dbSNP
19g.41411032G>CCA9461102BCKDHAc.375+23G>C (n.375+23G>C)
c.309+23G>C (n.309+23G>C)
n.501+23G>C
c.477+23G>C (n.477+23G>C)
c.182+23G>C
c.288+216G>C (n.288+216G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411032G=CA2336453978BCKDHAc.375+23G= (n.375+23G=)
c.309+23G= (n.309+23G=)
n.501+23G=
c.477+23G= (n.477+23G=)
c.182+23G=
c.288+216G= (n.288+216G=)
19g.41411032G>TCA2585306842BCKDHAc.375+23G>T (n.375+23G>T)
c.309+23G>T (n.309+23G>T)
n.501+23G>T
c.477+23G>T (n.477+23G>T)
c.182+23G>T
c.288+216G>T (n.288+216G>T)
 gnomAD v4
19g.41411033C>ACA2585306843BCKDHAc.375+24C>A (n.375+24C>A)
c.309+24C>A (n.309+24C>A)
n.501+24C>A
c.477+24C>A (n.477+24C>A)
c.182+24C>A
c.288+217C>A (n.288+217C>A)
 gnomAD v4
19g.41411033C=CA2336453979BCKDHAc.375+24C= (n.375+24C=)
c.309+24C= (n.309+24C=)
n.501+24C=
c.477+24C= (n.477+24C=)
c.182+24C=
c.288+217C= (n.288+217C=)
19g.41411033C>GCA9461105BCKDHAc.375+24C>G (n.375+24C>G)
c.309+24C>G (n.309+24C>G)
n.501+24C>G
c.477+24C>G (n.477+24C>G)
c.182+24C>G
c.288+217C>G (n.288+217C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411033C>TCA9461104BCKDHAc.375+24C>T (n.375+24C>T)
c.309+24C>T (n.309+24C>T)
n.501+24C>T
c.477+24C>T (n.477+24C>T)
c.182+24C>T
c.288+217C>T (n.288+217C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411034G>ACA9461106BCKDHAc.375+25G>A (n.375+25G>A)
c.309+25G>A (n.309+25G>A)
n.501+25G>A
c.477+25G>A (n.477+25G>A)
c.182+25G>A
c.288+218G>A (n.288+218G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411034G>CCA9461107BCKDHAc.375+25G>C (n.375+25G>C)
c.309+25G>C (n.309+25G>C)
n.501+25G>C
c.477+25G>C (n.477+25G>C)
c.182+25G>C
c.288+218G>C (n.288+218G>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.41411034G=CA2336453980BCKDHAc.375+25G= (n.375+25G=)
c.309+25G= (n.309+25G=)
n.501+25G=
c.477+25G= (n.477+25G=)
c.182+25G=
c.288+218G= (n.288+218G=)
19g.41411039dupCA9461103BCKDHAc.375+30dup (n.375+30dup)
c.309+30dup (n.309+30dup)
n.501+30dup
c.477+30dup (n.477+30dup)
c.182+30dup
c.288+223dup (n.288+223dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411039delCA2585306844BCKDHAc.375+30del (n.375+30del)
c.309+30del (n.309+30del)
n.501+30del
c.477+30del (n.477+30del)
c.182+30del
c.288+223del (n.288+223del)
 gnomAD v4
19g.41411035G=CA2336453981BCKDHAc.375+26G= (n.375+26G=)
c.309+26G= (n.309+26G=)
n.501+26G=
c.477+26G= (n.477+26G=)
c.182+26G=
c.288+219G= (n.288+219G=)
19g.41411035G>TCA9461108BCKDHAc.375+26G>T (n.375+26G>T)
c.309+26G>T (n.309+26G>T)
n.501+26G>T
c.477+26G>T (n.477+26G>T)
c.182+26G>T
c.288+219G>T (n.288+219G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411036G>ACA882341112BCKDHAc.375+27G>A (n.375+27G>A)
c.309+27G>A (n.309+27G>A)
n.501+27G>A
c.477+27G>A (n.477+27G>A)
c.182+27G>A
c.288+220G>A (n.288+220G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41411036G>CCA9461109BCKDHAc.375+27G>C (n.375+27G>C)
c.309+27G>C (n.309+27G>C)
n.501+27G>C
c.477+27G>C (n.477+27G>C)
c.182+27G>C
c.288+220G>C (n.288+220G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411036G=CA2336453982BCKDHAc.375+27G= (n.375+27G=)
c.309+27G= (n.309+27G=)
n.501+27G=
c.477+27G= (n.477+27G=)
c.182+27G=
c.288+220G= (n.288+220G=)
19g.41411037G>ACA2585306845BCKDHAc.375+28G>A (n.375+28G>A)
c.309+28G>A (n.309+28G>A)
n.501+28G>A
c.477+28G>A (n.477+28G>A)
c.182+28G>A
c.288+221G>A (n.288+221G>A)
 gnomAD v4
19g.41411038G>ACA2585306846BCKDHAc.375+29G>A (n.375+29G>A)
c.309+29G>A (n.309+29G>A)
n.501+29G>A
c.477+29G>A (n.477+29G>A)
c.182+29G>A
c.288+222G>A (n.288+222G>A)
 gnomAD v4
19g.41411038G>CCA2585306847BCKDHAc.375+29G>C (n.375+29G>C)
c.309+29G>C (n.309+29G>C)
n.501+29G>C
c.477+29G>C (n.477+29G>C)
c.182+29G>C
c.288+222G>C (n.288+222G>C)
 gnomAD v4
19g.41411039G>ACA2336453983BCKDHAc.375+30G>A (n.375+30G>A)
c.309+30G>A (n.309+30G>A)
n.501+30G>A
c.477+30G>A (n.477+30G>A)
c.182+30G>A
c.288+223G>A (n.288+223G>A)
 dbSNP gnomAD v4
19g.41411039G>CCA882341115BCKDHAc.375+30G>C (n.375+30G>C)
c.309+30G>C (n.309+30G>C)
n.501+30G>C
c.477+30G>C (n.477+30G>C)
c.182+30G>C
c.288+223G>C (n.288+223G>C)
 dbSNP gnomAD v4
19g.41411039G=CA2336453984BCKDHAc.375+30G= (n.375+30G=)
c.309+30G= (n.309+30G=)
n.501+30G=
c.477+30G= (n.477+30G=)
c.182+30G=
c.288+223G= (n.288+223G=)
19g.41411039G>TCA9461110BCKDHAc.375+30G>T (n.375+30G>T)
c.309+30G>T (n.309+30G>T)
n.501+30G>T
c.477+30G>T (n.477+30G>T)
c.182+30G>T
c.288+223G>T (n.288+223G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41411041T>CCA2336453986BCKDHAc.375+32T>C (n.375+32T>C)
c.309+32T>C (n.309+32T>C)
n.501+32T>C
c.477+32T>C (n.477+32T>C)
c.182+32T>C
c.288+225T>C (n.288+225T>C)
 dbSNP gnomAD v4
19g.41411041T=CA2336453985BCKDHAc.375+32T= (n.375+32T=)
c.309+32T= (n.309+32T=)
n.501+32T=
c.477+32T= (n.477+32T=)
c.182+32T=
c.288+225T= (n.288+225T=)
19g.41411042G>ACA9461111BCKDHAc.375+33G>A (n.375+33G>A)
c.309+33G>A (n.309+33G>A)
n.501+33G>A
c.477+33G>A (n.477+33G>A)
c.182+33G>A
c.288+226G>A (n.288+226G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41411042G>CCA2585306848BCKDHAc.375+33G>C (n.375+33G>C)
c.309+33G>C (n.309+33G>C)
n.501+33G>C
c.477+33G>C (n.477+33G>C)
c.182+33G>C
c.288+226G>C (n.288+226G>C)
 gnomAD v4
19g.41411042G=CA2336453987BCKDHAc.375+33G= (n.375+33G=)
c.309+33G= (n.309+33G=)
n.501+33G=
c.477+33G= (n.477+33G=)
c.182+33G=
c.288+226G= (n.288+226G=)
19g.41411045A>GCA2582167505BCKDHAc.375+36A>G (n.375+36A>G)
c.309+36A>G (n.309+36A>G)
n.501+36A>G
c.477+36A>G (n.477+36A>G)
c.182+36A>G
c.288+229A>G (n.288+229A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41411046T>CCA633165040BCKDHAc.375+37T>C (n.375+37T>C)
c.309+37T>C (n.309+37T>C)
n.501+37T>C
c.477+37T>C (n.477+37T>C)
c.182+37T>C
c.288+230T>C (n.288+230T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41411046T=CA2336453988BCKDHAc.375+37T= (n.375+37T=)
c.309+37T= (n.309+37T=)
n.501+37T=
c.477+37T= (n.477+37T=)
c.182+37T=
c.288+230T= (n.288+230T=)
19g.41411047T>CCA9461112BCKDHAc.375+38T>C (n.375+38T>C)
c.309+38T>C (n.309+38T>C)
n.501+38T>C
c.477+38T>C (n.477+38T>C)
c.182+38T>C
c.288+231T>C (n.288+231T>C)
 dbSNP ExAC gnomAD v2
19g.41411047T=CA2336453989BCKDHAc.375+38T= (n.375+38T=)
c.309+38T= (n.309+38T=)
n.501+38T=
c.477+38T= (n.477+38T=)
c.182+38T=
c.288+231T= (n.288+231T=)
19g.41411049C>TCA2585306849BCKDHAc.375+40C>T (n.375+40C>T)
c.309+40C>T (n.309+40C>T)
n.501+40C>T
c.477+40C>T (n.477+40C>T)
c.182+40C>T
c.288+233C>T (n.288+233C>T)
 gnomAD v4
19g.41411050C>ACA2585306850BCKDHAc.375+41C>A (n.375+41C>A)
c.309+41C>A (n.309+41C>A)
n.501+41C>A
c.477+41C>A (n.477+41C>A)
c.182+41C>A
c.288+234C>A (n.288+234C>A)
 gnomAD v4
19g.41411050C>GCA2814435383BCKDHAc.375+41C>G (n.375+41C>G)
c.309+41C>G (n.309+41C>G)
n.501+41C>G
c.477+41C>G (n.477+41C>G)
c.182+41C>G
c.288+234C>G (n.288+234C>G)
19g.41411050C>TCA2585306851BCKDHAc.375+41C>T (n.375+41C>T)
c.309+41C>T (n.309+41C>T)
n.501+41C>T
c.477+41C>T (n.477+41C>T)
c.182+41C>T
c.288+234C>T (n.288+234C>T)
 gnomAD v4
19g.41411052G>ACA2585306852BCKDHAc.375+43G>A (n.375+43G>A)
c.309+43G>A (n.309+43G>A)
n.501+43G>A
c.477+43G>A (n.477+43G>A)
c.182+43G>A
c.288+236G>A (n.288+236G>A)
 gnomAD v4
19g.41411053A>TCA2576793760BCKDHAc.375+44A>T (n.375+44A>T)
c.309+44A>T (n.309+44A>T)
n.501+44A>T
c.477+44A>T (n.477+44A>T)
c.182+44A>T
c.288+237A>T (n.288+237A>T)
19g.41411054G>CCA9461113BCKDHAc.375+45G>C (n.375+45G>C)
c.309+45G>C (n.309+45G>C)
n.501+45G>C
c.477+45G>C (n.477+45G>C)
c.182+45G>C
c.288+238G>C (n.288+238G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41411054G=CA2336453990BCKDHAc.375+45G= (n.375+45G=)
c.309+45G= (n.309+45G=)
n.501+45G=
c.477+45G= (n.477+45G=)
c.182+45G=
c.288+238G= (n.288+238G=)

Number of alleles fetched