Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422261C>ACA507690525BCKDHAc.744C>A (p.Ala248=)
c.678C>A (p.Ala226=)
n.373C>A
c.846C>A (p.Ala282=)
c.657C>A (p.Ala219=)
n.372C>A
 dbSNP gnomAD v4
19g.41422261C=CA2336459031BCKDHAc.744C= (p.Ala248=)
c.678C= (p.Ala226=)
n.373C=
c.846C= (p.Ala282=)
c.657C= (p.Ala219=)
n.372C=
19g.41422261C>GCA507690527BCKDHAc.744C>G (p.Ala248=)
c.678C>G (p.Ala226=)
n.373C>G
c.846C>G (p.Ala282=)
c.657C>G (p.Ala219=)
n.372C>G
 gnomAD v4
19g.41422261C>TCA9461252BCKDHAc.744C>T (p.Ala248=)
c.678C>T (p.Ala226=)
n.373C>T
c.846C>T (p.Ala282=)
c.657C>T (p.Ala219=)
n.372C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>ACA115515BCKDHAc.745G>A (p.Gly249Ser)
c.679G>A (p.Gly227Ser)
n.374G>A
c.847G>A (p.Gly283Ser)
c.658G>A (p.Gly220Ser)
n.373G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>CCA406012859BCKDHAc.745G>C (p.Gly249Arg)
c.679G>C (p.Gly227Arg)
n.374G>C
c.847G>C (p.Gly283Arg)
c.658G>C (p.Gly220Arg)
n.373G>C
19g.41422262G=CA2336459032BCKDHAc.745G= (p.Gly249=)
c.679G= (p.Gly227=)
n.374G=
c.847G= (p.Gly283=)
c.658G= (p.Gly220=)
n.373G=
19g.41422262G>TCA406012858BCKDHAc.745G>T (p.Gly249Cys)
c.679G>T (p.Gly227Cys)
n.374G>T
c.847G>T (p.Gly283Cys)
c.658G>T (p.Gly220Cys)
n.373G>T
 ClinVar dbSNP
19g.41422263G>ACA406012860BCKDHAc.746G>A (p.Gly249Asp)
c.680G>A (p.Gly227Asp)
n.375G>A
c.848G>A (p.Gly283Asp)
c.659G>A (p.Gly220Asp)
n.374G>A
19g.41422263G>CCA312362BCKDHAc.746G>C (p.Gly249Ala)
c.680G>C (p.Gly227Ala)
n.375G>C
c.848G>C (p.Gly283Ala)
c.659G>C (p.Gly220Ala)
n.374G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422263G=CA2336459033BCKDHAc.746G= (p.Gly249=)
c.680G= (p.Gly227=)
n.375G=
c.848G= (p.Gly283=)
c.659G= (p.Gly220=)
n.374G=
19g.41422263G>TCA406012861BCKDHAc.746G>T (p.Gly249Val)
c.680G>T (p.Gly227Val)
n.375G>T
c.848G>T (p.Gly283Val)
c.659G>T (p.Gly220Val)
n.374G>T
 ClinVar
19g.41422263_41422264delCA2695198206BCKDHAc.746_747del (p.Gly249ValfsTer8)
c.680_681del (p.Gly227ValfsTer8)
n.375_376del
c.848_849del (p.Gly283ValfsTer8)
c.659_660del (p.Gly220ValfsTer8)
n.374_375del
 ClinVar
19g.41422264C>ACA507690530BCKDHAc.747C>A (p.Gly249=)
c.681C>A (p.Gly227=)
n.376C>A
c.849C>A (p.Gly283=)
c.660C>A (p.Gly220=)
n.375C>A
19g.41422264C>GCA507690531BCKDHAc.747C>G (p.Gly249=)
c.681C>G (p.Gly227=)
n.376C>G
c.849C>G (p.Gly283=)
c.660C>G (p.Gly220=)
n.375C>G
19g.41422264C>TCA507690529BCKDHAc.747C>T (p.Gly249=)
c.681C>T (p.Gly227=)
n.376C>T
c.849C>T (p.Gly283=)
c.660C>T (p.Gly220=)
n.375C>T
19g.41422265T>ACA406012862BCKDHAc.748T>A (p.Phe250Ile)
c.682T>A (p.Phe228Ile)
n.377T>A
c.850T>A (p.Phe284Ile)
c.661T>A (p.Phe221Ile)
n.376T>A
19g.41422265T>CCA406012864BCKDHAc.748T>C (p.Phe250Leu)
c.682T>C (p.Phe228Leu)
n.377T>C
c.850T>C (p.Phe284Leu)
c.661T>C (p.Phe221Leu)
n.376T>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422265T>GCA406012863BCKDHAc.748T>G (p.Phe250Val)
c.682T>G (p.Phe228Val)
n.377T>G
c.850T>G (p.Phe284Val)
c.661T>G (p.Phe221Val)
n.376T>G
19g.41422265T=CA2336459034BCKDHAc.748T= (p.Phe250=)
c.682T= (p.Phe228=)
n.377T=
c.850T= (p.Phe284=)
c.661T= (p.Phe221=)
n.376T=
19g.41422266T>ACA406012865BCKDHAc.749T>A (p.Phe250Tyr)
c.683T>A (p.Phe228Tyr)
n.378T>A
c.851T>A (p.Phe284Tyr)
c.662T>A (p.Phe221Tyr)
n.377T>A
19g.41422266T>CCA406012867BCKDHAc.749T>C (p.Phe250Ser)
c.683T>C (p.Phe228Ser)
n.378T>C
c.851T>C (p.Phe284Ser)
c.662T>C (p.Phe221Ser)
n.377T>C
19g.41422266T>GCA406012866BCKDHAc.749T>G (p.Phe250Cys)
c.683T>G (p.Phe228Cys)
n.378T>G
c.851T>G (p.Phe284Cys)
c.662T>G (p.Phe221Cys)
n.377T>G
19g.41422267C>ACA406012868BCKDHAc.750C>A (p.Phe250Leu)
c.684C>A (p.Phe228Leu)
n.379C>A
c.852C>A (p.Phe284Leu)
c.663C>A (p.Phe221Leu)
n.378C>A
 COSMIC
19g.41422267C>GCA406012869BCKDHAc.750C>G (p.Phe250Leu)
c.684C>G (p.Phe228Leu)
n.379C>G
c.852C>G (p.Phe284Leu)
c.663C>G (p.Phe221Leu)
n.378C>G
19g.41422267C>TCA507690535BCKDHAc.750C>T (p.Phe250=)
c.684C>T (p.Phe228=)
n.379C>T
c.852C>T (p.Phe284=)
c.663C>T (p.Phe221=)
n.378C>T
19g.41422268A>CCA406012870BCKDHAc.751A>C (p.Asn251His)
c.685A>C (p.Asn229His)
n.380A>C
c.853A>C (p.Asn285His)
c.664A>C (p.Asn222His)
n.379A>C
19g.41422268A>GCA406012871BCKDHAc.751A>G (p.Asn251Asp)
c.685A>G (p.Asn229Asp)
n.380A>G
c.853A>G (p.Asn285Asp)
c.664A>G (p.Asn222Asp)
n.379A>G
 gnomAD v4
19g.41422268A>TCA406012872BCKDHAc.751A>T (p.Asn251Tyr)
c.685A>T (p.Asn229Tyr)
n.380A>T
c.853A>T (p.Asn285Tyr)
c.664A>T (p.Asn222Tyr)
n.379A>T
19g.41422269A=CA2336459035BCKDHAc.752A= (p.Asn251=)
c.686A= (p.Asn229=)
n.381A=
c.854A= (p.Asn285=)
c.665A= (p.Asn222=)
n.380A=
19g.41422269A>CCA406012873BCKDHAc.752A>C (p.Asn251Thr)
c.686A>C (p.Asn229Thr)
n.381A>C
c.854A>C (p.Asn285Thr)
c.665A>C (p.Asn222Thr)
n.380A>C
19g.41422269A>GCA9461253BCKDHAc.752A>G (p.Asn251Ser)
c.686A>G (p.Asn229Ser)
n.381A>G
c.854A>G (p.Asn285Ser)
c.665A>G (p.Asn222Ser)
n.380A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422269A>TCA406012874BCKDHAc.752A>T (p.Asn251Ile)
c.686A>T (p.Asn229Ile)
n.381A>T
c.854A>T (p.Asn285Ile)
c.665A>T (p.Asn222Ile)
n.380A>T
19g.41422270C>ACA406012877BCKDHAc.753C>A (p.Asn251Lys)
c.687C>A (p.Asn229Lys)
n.382C>A
c.855C>A (p.Asn285Lys)
c.666C>A (p.Asn222Lys)
n.381C>A
19g.41422270C=CA2336459036BCKDHAc.753C= (p.Asn251=)
c.687C= (p.Asn229=)
n.382C=
c.855C= (p.Asn285=)
c.666C= (p.Asn222=)
n.381C=
19g.41422270C>GCA406012875BCKDHAc.753C>G (p.Asn251Lys)
c.687C>G (p.Asn229Lys)
n.382C>G
c.855C>G (p.Asn285Lys)
c.666C>G (p.Asn222Lys)
n.381C>G
 dbSNP gnomAD v4
19g.41422270C>TCA507690542BCKDHAc.753C>T (p.Asn251=)
c.687C>T (p.Asn229=)
n.382C>T
c.855C>T (p.Asn285=)
c.666C>T (p.Asn222=)
n.381C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422271T>ACA406012878BCKDHAc.754T>A (p.Phe252Ile)
c.688T>A (p.Phe230Ile)
n.383T>A
c.856T>A (p.Phe286Ile)
c.667T>A (p.Phe223Ile)
n.382T>A
19g.41422271T>CCA406012879BCKDHAc.754T>C (p.Phe252Leu)
c.688T>C (p.Phe230Leu)
n.383T>C
c.856T>C (p.Phe286Leu)
c.667T>C (p.Phe223Leu)
n.382T>C
19g.41422271T>GCA406012880BCKDHAc.754T>G (p.Phe252Val)
c.688T>G (p.Phe230Val)
n.383T>G
c.856T>G (p.Phe286Val)
c.667T>G (p.Phe223Val)
n.382T>G
19g.41422272T>ACA406012881BCKDHAc.755T>A (p.Phe252Tyr)
c.689T>A (p.Phe230Tyr)
n.384T>A
c.857T>A (p.Phe286Tyr)
c.668T>A (p.Phe223Tyr)
n.383T>A
19g.41422272T>CCA406012882BCKDHAc.755T>C (p.Phe252Ser)
c.689T>C (p.Phe230Ser)
n.384T>C
c.857T>C (p.Phe286Ser)
c.668T>C (p.Phe223Ser)
n.383T>C
19g.41422272T>GCA406012883BCKDHAc.755T>G (p.Phe252Cys)
c.689T>G (p.Phe230Cys)
n.384T>G
c.857T>G (p.Phe286Cys)
c.668T>G (p.Phe223Cys)
n.383T>G
19g.41422272T=CA2336459037BCKDHAc.755T= (p.Phe252=)
c.689T= (p.Phe230=)
n.384T=
c.857T= (p.Phe286=)
c.668T= (p.Phe223=)
n.383T=
19g.41422272_41422273insACA2336459038BCKDHAc.755_756insA (p.Phe252LeufsTer6)
c.689_690insA (p.Phe230LeufsTer6)
n.384_385insA
c.857_858insA (p.Phe286LeufsTer6)
c.668_669insA (p.Phe223LeufsTer6)
n.383_384insA
 ClinVar dbSNP
19g.41422273C>ACA406012885BCKDHAc.756C>A (p.Phe252Leu)
c.690C>A (p.Phe230Leu)
n.385C>A
c.858C>A (p.Phe286Leu)
c.669C>A (p.Phe223Leu)
n.384C>A
19g.41422273C=CA2336459039BCKDHAc.756C= (p.Phe252=)
c.690C= (p.Phe230=)
n.385C=
c.858C= (p.Phe286=)
c.669C= (p.Phe223=)
n.384C=
19g.41422273C>GCA406012884BCKDHAc.756C>G (p.Phe252Leu)
c.690C>G (p.Phe230Leu)
n.385C>G
c.858C>G (p.Phe286Leu)
c.669C>G (p.Phe223Leu)
n.384C>G
 gnomAD v4
19g.41422273C>TCA9461254BCKDHAc.756C>T (p.Phe252=)
c.690C>T (p.Phe230=)
n.385C>T
c.858C>T (p.Phe286=)
c.669C>T (p.Phe223=)
n.384C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422274G>ACA9461255BCKDHAc.757G>A (p.Ala253Thr)
c.691G>A (p.Ala231Thr)
n.386G>A
c.859G>A (p.Ala287Thr)
c.670G>A (p.Ala224Thr)
n.385G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422274G>CCA406012886BCKDHAc.757G>C (p.Ala253Pro)
c.691G>C (p.Ala231Pro)
n.386G>C
c.859G>C (p.Ala287Pro)
c.670G>C (p.Ala224Pro)
n.385G>C
19g.41422274G=CA2336459040BCKDHAc.757G= (p.Ala253=)
c.691G= (p.Ala231=)
n.386G=
c.859G= (p.Ala287=)
c.670G= (p.Ala224=)
n.385G=
19g.41422274G>TCA406012887BCKDHAc.757G>T (p.Ala253Ser)
c.691G>T (p.Ala231Ser)
n.386G>T
c.859G>T (p.Ala287Ser)
c.670G>T (p.Ala224Ser)
n.385G>T
 COSMIC
19g.41422275C>ACA406012888BCKDHAc.758C>A (p.Ala253Asp)
c.692C>A (p.Ala231Asp)
n.387C>A
c.860C>A (p.Ala287Asp)
c.671C>A (p.Ala224Asp)
n.386C>A
19g.41422275C=CA2336459041BCKDHAc.758C= (p.Ala253=)
c.692C= (p.Ala231=)
n.387C=
c.860C= (p.Ala287=)
c.671C= (p.Ala224=)
n.386C=
19g.41422275C>GCA406012889BCKDHAc.758C>G (p.Ala253Gly)
c.692C>G (p.Ala231Gly)
n.387C>G
c.860C>G (p.Ala287Gly)
c.671C>G (p.Ala224Gly)
n.386C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422275C>TCA406012890BCKDHAc.758C>T (p.Ala253Val)
c.692C>T (p.Ala231Val)
n.387C>T
c.860C>T (p.Ala287Val)
c.671C>T (p.Ala224Val)
n.386C>T
19g.41422276T>ACA507690554BCKDHAc.759T>A (p.Ala253=)
c.693T>A (p.Ala231=)
n.388T>A
c.861T>A (p.Ala287=)
c.672T>A (p.Ala224=)
n.387T>A
19g.41422276T>CCA507690556BCKDHAc.759T>C (p.Ala253=)
c.693T>C (p.Ala231=)
n.388T>C
c.861T>C (p.Ala287=)
c.672T>C (p.Ala224=)
n.387T>C
19g.41422276T>GCA507690555BCKDHAc.759T>G (p.Ala253=)
c.693T>G (p.Ala231=)
n.388T>G
c.861T>G (p.Ala287=)
c.672T>G (p.Ala224=)
n.387T>G
19g.41422277G>ACA406012891BCKDHAc.760G>A (p.Ala254Thr)
c.694G>A (p.Ala232Thr)
n.389G>A
c.862G>A (p.Ala288Thr)
c.673G>A (p.Ala225Thr)
n.388G>A
19g.41422277G>CCA406012892BCKDHAc.760G>C (p.Ala254Pro)
c.694G>C (p.Ala232Pro)
n.389G>C
c.862G>C (p.Ala288Pro)
c.673G>C (p.Ala225Pro)
n.388G>C
19g.41422277G>TCA406012893BCKDHAc.760G>T (p.Ala254Ser)
c.694G>T (p.Ala232Ser)
n.389G>T
c.862G>T (p.Ala288Ser)
c.673G>T (p.Ala225Ser)
n.388G>T
19g.41422278C>ACA221213BCKDHAc.761C>A (p.Ala254Asp)
c.695C>A (p.Ala232Asp)
n.390C>A
c.863C>A (p.Ala288Asp)
c.674C>A (p.Ala225Asp)
n.389C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422278C=CA2336459042BCKDHAc.761C= (p.Ala254=)
c.695C= (p.Ala232=)
n.390C=
c.863C= (p.Ala288=)
c.674C= (p.Ala225=)
n.389C=
19g.41422278C>GCA406012894BCKDHAc.761C>G (p.Ala254Gly)
c.695C>G (p.Ala232Gly)
n.390C>G
c.863C>G (p.Ala288Gly)
c.674C>G (p.Ala225Gly)
n.389C>G
 dbSNP gnomAD v3 gnomAD v4
19g.41422278C>TCA406012895BCKDHAc.761C>T (p.Ala254Val)
c.695C>T (p.Ala232Val)
n.390C>T
c.863C>T (p.Ala288Val)
c.674C>T (p.Ala225Val)
n.389C>T
19g.41422279C>ACA507690557BCKDHAc.762C>A (p.Ala254=)
c.696C>A (p.Ala232=)
n.391C>A
c.864C>A (p.Ala288=)
c.675C>A (p.Ala225=)
n.390C>A
19g.41422279C=CA2336459043BCKDHAc.762C= (p.Ala254=)
c.696C= (p.Ala232=)
n.391C=
c.864C= (p.Ala288=)
c.675C= (p.Ala225=)
n.390C=
19g.41422279C>GCA507690558BCKDHAc.762C>G (p.Ala254=)
c.696C>G (p.Ala232=)
n.391C>G
c.864C>G (p.Ala288=)
c.675C>G (p.Ala225=)
n.390C>G
19g.41422279C>TCA507690559BCKDHAc.762C>T (p.Ala254=)
c.696C>T (p.Ala232=)
n.391C>T
c.864C>T (p.Ala288=)
c.675C>T (p.Ala225=)
n.390C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422280A>CCA406012896BCKDHAc.763A>C (p.Thr255Pro)
c.697A>C (p.Thr233Pro)
n.392A>C
c.865A>C (p.Thr289Pro)
c.676A>C (p.Thr226Pro)
n.391A>C
19g.41422280A>GCA406012898BCKDHAc.763A>G (p.Thr255Ala)
c.697A>G (p.Thr233Ala)
n.392A>G
c.865A>G (p.Thr289Ala)
c.676A>G (p.Thr226Ala)
n.391A>G
19g.41422280A>TCA406012897BCKDHAc.763A>T (p.Thr255Ser)
c.697A>T (p.Thr233Ser)
n.392A>T
c.865A>T (p.Thr289Ser)
c.676A>T (p.Thr226Ser)
n.391A>T
 gnomAD v4
19g.41422281C>ACA406012899BCKDHAc.764C>A (p.Thr255Lys)
c.698C>A (p.Thr233Lys)
n.393C>A
c.866C>A (p.Thr289Lys)
c.677C>A (p.Thr226Lys)
n.392C>A
19g.41422281C>GCA406012900BCKDHAc.764C>G (p.Thr255Arg)
c.698C>G (p.Thr233Arg)
n.393C>G
c.866C>G (p.Thr289Arg)
c.677C>G (p.Thr226Arg)
n.392C>G
19g.41422281C>TCA406012901BCKDHAc.764C>T (p.Thr255Ile)
c.698C>T (p.Thr233Ile)
n.393C>T
c.866C>T (p.Thr289Ile)
c.677C>T (p.Thr226Ile)
n.392C>T
 gnomAD v4
19g.41422282A=CA2336459044BCKDHAc.765A= (p.Thr255=)
c.699A= (p.Thr233=)
n.394A=
c.867A= (p.Thr289=)
c.678A= (p.Thr226=)
n.393A=
19g.41422282A>CCA507690565BCKDHAc.765A>C (p.Thr255=)
c.699A>C (p.Thr233=)
n.394A>C
c.867A>C (p.Thr289=)
c.678A>C (p.Thr226=)
n.393A>C
19g.41422282A>GCA507690566BCKDHAc.765A>G (p.Thr255=)
c.699A>G (p.Thr233=)
n.394A>G
c.867A>G (p.Thr289=)
c.678A>G (p.Thr226=)
n.393A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422282A>TCA507690568BCKDHAc.765A>T (p.Thr255=)
c.699A>T (p.Thr233=)
n.394A>T
c.867A>T (p.Thr289=)
c.678A>T (p.Thr226=)
n.393A>T
19g.41422283C>ACA406012902BCKDHAc.766C>A (p.Leu256Ile)
c.700C>A (p.Leu234Ile)
n.395C>A
c.868C>A (p.Leu290Ile)
c.679C>A (p.Leu227Ile)
n.394C>A
19g.41422283C>GCA406012903BCKDHAc.766C>G (p.Leu256Val)
c.700C>G (p.Leu234Val)
n.395C>G
c.868C>G (p.Leu290Val)
c.679C>G (p.Leu227Val)
n.394C>G
19g.41422283C>TCA406012904BCKDHAc.766C>T (p.Leu256Phe)
c.700C>T (p.Leu234Phe)
n.395C>T
c.868C>T (p.Leu290Phe)
c.679C>T (p.Leu227Phe)
n.394C>T
19g.41422284T>ACA406012905BCKDHAc.767T>A (p.Leu256His)
c.701T>A (p.Leu234His)
n.396T>A
c.869T>A (p.Leu290His)
c.680T>A (p.Leu227His)
n.395T>A
19g.41422284T>CCA406012906BCKDHAc.767T>C (p.Leu256Pro)
c.701T>C (p.Leu234Pro)
n.396T>C
c.869T>C (p.Leu290Pro)
c.680T>C (p.Leu227Pro)
n.395T>C
 gnomAD v4
19g.41422284T>GCA406012907BCKDHAc.767T>G (p.Leu256Arg)
c.701T>G (p.Leu234Arg)
n.396T>G
c.869T>G (p.Leu290Arg)
c.680T>G (p.Leu227Arg)
n.395T>G
19g.41422285T>ACA507690570BCKDHAc.768T>A (p.Leu256=)
c.702T>A (p.Leu234=)
n.397T>A
c.870T>A (p.Leu290=)
c.681T>A (p.Leu227=)
n.396T>A
19g.41422285T>CCA507690571BCKDHAc.768T>C (p.Leu256=)
c.702T>C (p.Leu234=)
n.397T>C
c.870T>C (p.Leu290=)
c.681T>C (p.Leu227=)
n.396T>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422285T>GCA507690572BCKDHAc.768T>G (p.Leu256=)
c.702T>G (p.Leu234=)
n.397T>G
c.870T>G (p.Leu290=)
c.681T>G (p.Leu227=)
n.396T>G
19g.41422285T=CA2336459045BCKDHAc.768T= (p.Leu256=)
c.702T= (p.Leu234=)
n.397T=
c.870T= (p.Leu290=)
c.681T= (p.Leu227=)
n.396T=
19g.41422286G>ACA406012908BCKDHAc.769G>A (p.Glu257Lys)
c.703G>A (p.Glu235Lys)
n.398G>A
c.871G>A (p.Glu291Lys)
c.682G>A (p.Glu228Lys)
n.397G>A
19g.41422286G>CCA406012909BCKDHAc.769G>C (p.Glu257Gln)
c.703G>C (p.Glu235Gln)
n.398G>C
c.871G>C (p.Glu291Gln)
c.682G>C (p.Glu228Gln)
n.397G>C
19g.41422286G>TCA406012910BCKDHAc.769G>T (p.Glu257Ter)
c.703G>T (p.Glu235Ter)
n.398G>T
c.871G>T (p.Glu291Ter)
c.682G>T (p.Glu228Ter)
n.397G>T
19g.41422286dupCA2585307994BCKDHAc.769dup (p.Glu257GlyfsTer21)
c.703dup (p.Glu235GlyfsTer21)
n.398dup
c.871dup (p.Glu291GlyfsTer21)
c.682dup (p.Glu228GlyfsTer21)
n.397dup
 gnomAD v4
19g.41422287A>CCA406012913BCKDHAc.770A>C (p.Glu257Ala)
c.704A>C (p.Glu235Ala)
n.399A>C
c.872A>C (p.Glu291Ala)
c.683A>C (p.Glu228Ala)
n.398A>C
19g.41422287A>GCA406012911BCKDHAc.770A>G (p.Glu257Gly)
c.704A>G (p.Glu235Gly)
n.399A>G
c.872A>G (p.Glu291Gly)
c.683A>G (p.Glu228Gly)
n.398A>G
19g.41422287A>TCA406012912BCKDHAc.770A>T (p.Glu257Val)
c.704A>T (p.Glu235Val)
n.399A>T
c.872A>T (p.Glu291Val)
c.683A>T (p.Glu228Val)
n.398A>T
19g.41422288G>ACA507690578BCKDHAc.771G>A (p.Glu257=)
c.705G>A (p.Glu235=)
n.400G>A
c.873G>A (p.Glu291=)
c.684G>A (p.Glu228=)
n.399G>A
 gnomAD v4
19g.41422288G>CCA406012914BCKDHAc.771G>C (p.Glu257Asp)
c.705G>C (p.Glu235Asp)
n.400G>C
c.873G>C (p.Glu291Asp)
c.684G>C (p.Glu228Asp)
n.399G>C
19g.41422288G>TCA406012915BCKDHAc.771G>T (p.Glu257Asp)
c.705G>T (p.Glu235Asp)
n.400G>T
c.873G>T (p.Glu291Asp)
c.684G>T (p.Glu228Asp)
n.399G>T
19g.41422289T>ACA406012916BCKDHAc.772T>A (p.Cys258Ser)
c.706T>A (p.Cys236Ser)
n.401T>A
c.874T>A (p.Cys292Ser)
c.685T>A (p.Cys229Ser)
n.400T>A
19g.41422289T>CCA406012917BCKDHAc.772T>C (p.Cys258Arg)
c.706T>C (p.Cys236Arg)
n.401T>C
c.874T>C (p.Cys292Arg)
c.685T>C (p.Cys229Arg)
n.400T>C
19g.41422289T>GCA406012918BCKDHAc.772T>G (p.Cys258Gly)
c.706T>G (p.Cys236Gly)
n.401T>G
c.874T>G (p.Cys292Gly)
c.685T>G (p.Cys229Gly)
n.400T>G
19g.41422290G>ACA406012919BCKDHAc.773G>A (p.Cys258Tyr)
c.707G>A (p.Cys236Tyr)
n.402G>A
c.875G>A (p.Cys292Tyr)
c.686G>A (p.Cys229Tyr)
n.401G>A
19g.41422290G>CCA406012920BCKDHAc.773G>C (p.Cys258Ser)
c.707G>C (p.Cys236Ser)
n.402G>C
c.875G>C (p.Cys292Ser)
c.686G>C (p.Cys229Ser)
n.401G>C
19g.41422290G>TCA406012921BCKDHAc.773G>T (p.Cys258Phe)
c.707G>T (p.Cys236Phe)
n.402G>T
c.875G>T (p.Cys292Phe)
c.686G>T (p.Cys229Phe)
n.401G>T
19g.41422290_41422291delinsAACA2573054776BCKDHAc.773_774delinsAA (p.Cys258Ter)
c.707_708delinsAA (p.Cys236Ter)
n.402_403delinsAA
c.875_876delinsAA (p.Cys292Ter)
c.686_687delinsAA (p.Cys229Ter)
n.401_402delinsAA
 ClinVar dbSNP
19g.41422291C>ACA406012922BCKDHAc.774C>A (p.Cys258Ter)
c.708C>A (p.Cys236Ter)
n.403C>A
c.876C>A (p.Cys292Ter)
c.687C>A (p.Cys229Ter)
n.402C>A
 ClinVar dbSNP
19g.41422291C=CA2336459046BCKDHAc.774C= (p.Cys258=)
c.708C= (p.Cys236=)
n.403C=
c.876C= (p.Cys292=)
c.687C= (p.Cys229=)
n.402C=
19g.41422291C>GCA406012923BCKDHAc.774C>G (p.Cys258Trp)
c.708C>G (p.Cys236Trp)
n.403C>G
c.876C>G (p.Cys292Trp)
c.687C>G (p.Cys229Trp)
n.402C>G
19g.41422291C>TCA507690579BCKDHAc.774C>T (p.Cys258=)
c.708C>T (p.Cys236=)
n.403C>T
c.876C>T (p.Cys292=)
c.687C>T (p.Cys229=)
n.402C>T
19g.41422292C>ACA406012926BCKDHAc.775C>A (p.Pro259Thr)
c.709C>A (p.Pro237Thr)
n.404C>A
c.877C>A (p.Pro293Thr)
c.688C>A (p.Pro230Thr)
n.403C>A
19g.41422292C>GCA406012925BCKDHAc.775C>G (p.Pro259Ala)
c.709C>G (p.Pro237Ala)
n.404C>G
c.877C>G (p.Pro293Ala)
c.688C>G (p.Pro230Ala)
n.403C>G
19g.41422292C>TCA406012924BCKDHAc.775C>T (p.Pro259Ser)
c.709C>T (p.Pro237Ser)
n.404C>T
c.877C>T (p.Pro293Ser)
c.688C>T (p.Pro230Ser)
n.403C>T
19g.41422293C>ACA406012927BCKDHAc.776C>A (p.Pro259His)
c.710C>A (p.Pro237His)
n.405C>A
c.878C>A (p.Pro293His)
c.689C>A (p.Pro230His)
n.404C>A
19g.41422293C>GCA406012928BCKDHAc.776C>G (p.Pro259Arg)
c.710C>G (p.Pro237Arg)
n.405C>G
c.878C>G (p.Pro293Arg)
c.689C>G (p.Pro230Arg)
n.404C>G
19g.41422293C>TCA406012929BCKDHAc.776C>T (p.Pro259Leu)
c.710C>T (p.Pro237Leu)
n.405C>T
c.878C>T (p.Pro293Leu)
c.689C>T (p.Pro230Leu)
n.404C>T
 ClinVar dbSNP gnomAD v4
19g.41422294C>ACA507690582BCKDHAc.777C>A (p.Pro259=)
c.711C>A (p.Pro237=)
n.406C>A
c.879C>A (p.Pro293=)
c.690C>A (p.Pro230=)
n.405C>A
19g.41422294C>GCA507690583BCKDHAc.777C>G (p.Pro259=)
c.711C>G (p.Pro237=)
n.406C>G
c.879C>G (p.Pro293=)
c.690C>G (p.Pro230=)
n.405C>G
19g.41422294C>TCA507690585BCKDHAc.777C>T (p.Pro259=)
c.711C>T (p.Pro237=)
n.406C>T
c.879C>T (p.Pro293=)
c.690C>T (p.Pro230=)
n.405C>T
 ClinVar
19g.41422298_41422300delCA2585307995BCKDHAc.781_783del (p.Ile261del)
c.715_717del (p.Ile239del)
n.410_412del
c.883_885del (p.Ile295del)
c.694_696del (p.Ile232del)
n.409_411del
 gnomAD v4
19g.41422295A>CCA406012930BCKDHAc.778A>C (p.Ile260Leu)
c.712A>C (p.Ile238Leu)
n.407A>C
c.880A>C (p.Ile294Leu)
c.691A>C (p.Ile231Leu)
n.406A>C
19g.41422295A>GCA406012931BCKDHAc.778A>G (p.Ile260Val)
c.712A>G (p.Ile238Val)
n.407A>G
c.880A>G (p.Ile294Val)
c.691A>G (p.Ile231Val)
n.406A>G
19g.41422295A>TCA406012932BCKDHAc.778A>T (p.Ile260Phe)
c.712A>T (p.Ile238Phe)
n.407A>T
c.880A>T (p.Ile294Phe)
c.691A>T (p.Ile231Phe)
n.406A>T
19g.41422296T>ACA406012933BCKDHAc.779T>A (p.Ile260Asn)
c.713T>A (p.Ile238Asn)
n.408T>A
c.881T>A (p.Ile294Asn)
c.692T>A (p.Ile231Asn)
n.407T>A
19g.41422296T>CCA406012934BCKDHAc.779T>C (p.Ile260Thr)
c.713T>C (p.Ile238Thr)
n.408T>C
c.881T>C (p.Ile294Thr)
c.692T>C (p.Ile231Thr)
n.407T>C
19g.41422296T>GCA406012935BCKDHAc.779T>G (p.Ile260Ser)
c.713T>G (p.Ile238Ser)
n.408T>G
c.881T>G (p.Ile294Ser)
c.692T>G (p.Ile231Ser)
n.407T>G
19g.41422297C>ACA507690591BCKDHAc.780C>A (p.Ile260=)
c.714C>A (p.Ile238=)
n.409C>A
c.882C>A (p.Ile294=)
c.693C>A (p.Ile231=)
n.408C>A
19g.41422297C=CA2336459047BCKDHAc.780C= (p.Ile260=)
c.714C= (p.Ile238=)
n.409C=
c.882C= (p.Ile294=)
c.693C= (p.Ile231=)
n.408C=
19g.41422297C>GCA406012936BCKDHAc.780C>G (p.Ile260Met)
c.714C>G (p.Ile238Met)
n.409C>G
c.882C>G (p.Ile294Met)
c.693C>G (p.Ile231Met)
n.408C>G
 dbSNP
19g.41422297C>TCA507690589BCKDHAc.780C>T (p.Ile260=)
c.714C>T (p.Ile238=)
n.409C>T
c.882C>T (p.Ile294=)
c.693C>T (p.Ile231=)
n.408C>T
19g.41422298A=CA2336459048BCKDHAc.781A= (p.Ile261=)
c.715A= (p.Ile239=)
n.410A=
c.883A= (p.Ile295=)
c.694A= (p.Ile232=)
n.409A=
19g.41422298A>CCA406012937BCKDHAc.781A>C (p.Ile261Leu)
c.715A>C (p.Ile239Leu)
n.410A>C
c.883A>C (p.Ile295Leu)
c.694A>C (p.Ile232Leu)
n.409A>C
19g.41422298A>GCA308524317BCKDHAc.781A>G (p.Ile261Val)
c.715A>G (p.Ile239Val)
n.410A>G
c.883A>G (p.Ile295Val)
c.694A>G (p.Ile232Val)
n.409A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422298A>TCA406012938BCKDHAc.781A>T (p.Ile261Phe)
c.715A>T (p.Ile239Phe)
n.410A>T
c.883A>T (p.Ile295Phe)
c.694A>T (p.Ile232Phe)
n.409A>T
19g.41422298_41422301delinsATCTCA2336459049BCKDHAc.781_784delinsATCT (p.Ile261=)
c.715_718delinsATCT (p.Ile239=)
n.410_413delinsATCT
c.883_886delinsATCT (p.Ile295=)
c.694_697delinsATCT (p.Ile232=)
n.409_412delinsATCT
19g.41422299T>ACA406012942BCKDHAc.782T>A (p.Ile261Asn)
c.716T>A (p.Ile239Asn)
n.411T>A
c.884T>A (p.Ile295Asn)
c.695T>A (p.Ile232Asn)
n.410T>A
19g.41422299T>CCA406012941BCKDHAc.782T>C (p.Ile261Thr)
c.716T>C (p.Ile239Thr)
n.411T>C
c.884T>C (p.Ile295Thr)
c.695T>C (p.Ile232Thr)
n.410T>C
19g.41422299T>GCA406012940BCKDHAc.782T>G (p.Ile261Ser)
c.716T>G (p.Ile239Ser)
n.411T>G
c.884T>G (p.Ile295Ser)
c.695T>G (p.Ile232Ser)
n.410T>G
19g.41422305_41422307delCA221215BCKDHAc.788_790del (p.Phe263del)
c.722_724del (p.Phe241del)
n.417_419del
c.890_892del (p.Phe297del)
c.701_703del (p.Phe234del)
n.416_418del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422300C>ACA507690599BCKDHAc.783C>A (p.Ile261=)
c.717C>A (p.Ile239=)
n.412C>A
c.885C>A (p.Ile295=)
c.696C>A (p.Ile232=)
n.411C>A
 dbSNP gnomAD v4
19g.41422300C=CA2336459050BCKDHAc.783C= (p.Ile261=)
c.717C= (p.Ile239=)
n.412C=
c.885C= (p.Ile295=)
c.696C= (p.Ile232=)
n.411C=
19g.41422300C>GCA406012943BCKDHAc.783C>G (p.Ile261Met)
c.717C>G (p.Ile239Met)
n.412C>G
c.885C>G (p.Ile295Met)
c.696C>G (p.Ile232Met)
n.411C>G
19g.41422300C>TCA507690601BCKDHAc.783C>T (p.Ile261=)
c.717C>T (p.Ile239=)
n.412C>T
c.885C>T (p.Ile295=)
c.696C>T (p.Ile232=)
n.411C>T
 dbSNP gnomAD v4
19g.41422301T>ACA9461256BCKDHAc.784T>A (p.Phe262Ile)
c.718T>A (p.Phe240Ile)
n.413T>A
c.886T>A (p.Phe296Ile)
c.697T>A (p.Phe233Ile)
n.412T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422301T>CCA406012944BCKDHAc.784T>C (p.Phe262Leu)
c.718T>C (p.Phe240Leu)
n.413T>C
c.886T>C (p.Phe296Leu)
c.697T>C (p.Phe233Leu)
n.412T>C
19g.41422301T>GCA406012945BCKDHAc.784T>G (p.Phe262Val)
c.718T>G (p.Phe240Val)
n.413T>G
c.886T>G (p.Phe296Val)
c.697T>G (p.Phe233Val)
n.412T>G
19g.41422301T=CA2336459051BCKDHAc.784T= (p.Phe262=)
c.718T= (p.Phe240=)
n.413T=
c.886T= (p.Phe296=)
c.697T= (p.Phe233=)
n.412T=
19g.41422302T>ACA406012946BCKDHAc.785T>A (p.Phe262Tyr)
c.719T>A (p.Phe240Tyr)
n.414T>A
c.887T>A (p.Phe296Tyr)
c.698T>A (p.Phe233Tyr)
n.413T>A
19g.41422302T>CCA406012947BCKDHAc.785T>C (p.Phe262Ser)
c.719T>C (p.Phe240Ser)
n.414T>C
c.887T>C (p.Phe296Ser)
c.698T>C (p.Phe233Ser)
n.413T>C
19g.41422302T>GCA406012948BCKDHAc.785T>G (p.Phe262Cys)
c.719T>G (p.Phe240Cys)
n.414T>G
c.887T>G (p.Phe296Cys)
c.698T>G (p.Phe233Cys)
n.413T>G
19g.41422303C>ACA406012949BCKDHAc.786C>A (p.Phe262Leu)
c.720C>A (p.Phe240Leu)
n.415C>A
c.888C>A (p.Phe296Leu)
c.699C>A (p.Phe233Leu)
n.414C>A
19g.41422303C>GCA406012950BCKDHAc.786C>G (p.Phe262Leu)
c.720C>G (p.Phe240Leu)
n.415C>G
c.888C>G (p.Phe296Leu)
c.699C>G (p.Phe233Leu)
n.414C>G
19g.41422303C>TCA507690608BCKDHAc.786C>T (p.Phe262=)
c.720C>T (p.Phe240=)
n.415C>T
c.888C>T (p.Phe296=)
c.699C>T (p.Phe233=)
n.414C>T
 COSMIC
19g.41422304T>ACA406012951BCKDHAc.787T>A (p.Phe263Ile)
c.721T>A (p.Phe241Ile)
n.416T>A
c.889T>A (p.Phe297Ile)
c.700T>A (p.Phe234Ile)
n.415T>A
19g.41422304T>CCA308524322BCKDHAc.787T>C (p.Phe263Leu)
c.721T>C (p.Phe241Leu)
n.416T>C
c.889T>C (p.Phe297Leu)
c.700T>C (p.Phe234Leu)
n.415T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422304T>GCA9461257BCKDHAc.787T>G (p.Phe263Val)
c.721T>G (p.Phe241Val)
n.416T>G
c.889T>G (p.Phe297Val)
c.700T>G (p.Phe234Val)
n.415T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422304T=CA2336459052BCKDHAc.787T= (p.Phe263=)
c.721T= (p.Phe241=)
n.416T=
c.889T= (p.Phe297=)
c.700T= (p.Phe234=)
n.415T=
19g.41422305T>ACA406012952BCKDHAc.788T>A (p.Phe263Tyr)
c.722T>A (p.Phe241Tyr)
n.417T>A
c.890T>A (p.Phe297Tyr)
c.701T>A (p.Phe234Tyr)
n.416T>A
19g.41422305T>CCA406012953BCKDHAc.788T>C (p.Phe263Ser)
c.722T>C (p.Phe241Ser)
n.417T>C
c.890T>C (p.Phe297Ser)
c.701T>C (p.Phe234Ser)
n.416T>C
19g.41422305T>GCA406012954BCKDHAc.788T>G (p.Phe263Cys)
c.722T>G (p.Phe241Cys)
n.417T>G
c.890T>G (p.Phe297Cys)
c.701T>G (p.Phe234Cys)
n.416T>G
19g.41422306C>ACA406012955BCKDHAc.789C>A (p.Phe263Leu)
c.723C>A (p.Phe241Leu)
n.418C>A
c.891C>A (p.Phe297Leu)
c.702C>A (p.Phe234Leu)
n.417C>A
19g.41422306C>GCA406012956BCKDHAc.789C>G (p.Phe263Leu)
c.723C>G (p.Phe241Leu)
n.418C>G
c.891C>G (p.Phe297Leu)
c.702C>G (p.Phe234Leu)
n.417C>G
19g.41422306C>TCA507690610BCKDHAc.789C>T (p.Phe263=)
c.723C>T (p.Phe241=)
n.418C>T
c.891C>T (p.Phe297=)
c.702C>T (p.Phe234=)
n.417C>T
 ClinVar
19g.41422307T>ACA406012957BCKDHAc.790T>A (p.Cys264Ser)
c.724T>A (p.Cys242Ser)
n.419T>A
c.892T>A (p.Cys298Ser)
c.703T>A (p.Cys235Ser)
n.418T>A
19g.41422307T>CCA406012958BCKDHAc.790T>C (p.Cys264Arg)
c.724T>C (p.Cys242Arg)
n.419T>C
c.892T>C (p.Cys298Arg)
c.703T>C (p.Cys235Arg)
n.418T>C
19g.41422307T>GCA406012959BCKDHAc.790T>G (p.Cys264Gly)
c.724T>G (p.Cys242Gly)
n.419T>G
c.892T>G (p.Cys298Gly)
c.703T>G (p.Cys235Gly)
n.418T>G
19g.41422308G>ACA406012960BCKDHAc.791G>A (p.Cys264Tyr)
c.725G>A (p.Cys242Tyr)
n.420G>A
c.893G>A (p.Cys298Tyr)
c.704G>A (p.Cys235Tyr)
n.419G>A
19g.41422308G>CCA406012961BCKDHAc.791G>C (p.Cys264Ser)
c.725G>C (p.Cys242Ser)
n.420G>C
c.893G>C (p.Cys298Ser)
c.704G>C (p.Cys235Ser)
n.419G>C
19g.41422308G>TCA406012962BCKDHAc.791G>T (p.Cys264Phe)
c.725G>T (p.Cys242Phe)
n.420G>T
c.893G>T (p.Cys298Phe)
c.704G>T (p.Cys235Phe)
n.419G>T
19g.41422309C>ACA406012963BCKDHAc.792C>A (p.Cys264Ter)
c.726C>A (p.Cys242Ter)
n.421C>A
c.894C>A (p.Cys298Ter)
c.705C>A (p.Cys235Ter)
n.420C>A
19g.41422309C=CA2336459053BCKDHAc.792C= (p.Cys264=)
c.726C= (p.Cys242=)
n.421C=
c.894C= (p.Cys298=)
c.705C= (p.Cys235=)
n.420C=
19g.41422309C>GCA115521BCKDHAc.792C>G (p.Cys264Trp)
c.726C>G (p.Cys242Trp)
n.421C>G
c.894C>G (p.Cys298Trp)
c.705C>G (p.Cys235Trp)
n.420C>G
 ClinVar dbSNP gnomAD v4
19g.41422309C>TCA507690615BCKDHAc.792C>T (p.Cys264=)
c.726C>T (p.Cys242=)
n.421C>T
c.894C>T (p.Cys298=)
c.705C>T (p.Cys235=)
n.420C>T
19g.41422310C>ACA507690616BCKDHAc.793C>A (p.Arg265=)
c.727C>A (p.Arg243=)
n.422C>A
c.895C>A (p.Arg299=)
c.706C>A (p.Arg236=)
n.421C>A
19g.41422310C=CA2336459054BCKDHAc.793C= (p.Arg265=)
c.727C= (p.Arg243=)
n.422C=
c.895C= (p.Arg299=)
c.706C= (p.Arg236=)
n.421C=
19g.41422310C>GCA406012964BCKDHAc.793C>G (p.Arg265Gly)
c.727C>G (p.Arg243Gly)
n.422C>G
c.895C>G (p.Arg299Gly)
c.706C>G (p.Arg236Gly)
n.421C>G
19g.41422310C>TCA115512BCKDHAc.793C>T (p.Arg265Trp)
c.727C>T (p.Arg243Trp)
n.422C>T
c.895C>T (p.Arg299Trp)
c.706C>T (p.Arg236Trp)
n.421C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422311G>ACA308524323BCKDHAc.794G>A (p.Arg265Gln)
c.728G>A (p.Arg243Gln)
n.423G>A
c.896G>A (p.Arg299Gln)
c.707G>A (p.Arg236Gln)
n.422G>A
 ClinVar dbSNP gnomAD v4
19g.41422311G>CCA308524327BCKDHAc.794G>C (p.Arg265Pro)
c.728G>C (p.Arg243Pro)
n.423G>C
c.896G>C (p.Arg299Pro)
c.707G>C (p.Arg236Pro)
n.422G>C
 ClinVar dbSNP gnomAD v4
19g.41422311G=CA2336459055BCKDHAc.794G= (p.Arg265=)
c.728G= (p.Arg243=)
n.423G=
c.896G= (p.Arg299=)
c.707G= (p.Arg236=)
n.422G=
19g.41422311G>TCA406012965BCKDHAc.794G>T (p.Arg265Leu)
c.728G>T (p.Arg243Leu)
n.423G>T
c.896G>T (p.Arg299Leu)
c.707G>T (p.Arg236Leu)
n.422G>T
19g.41422312delCA2739290178BCKDHAc.795del (p.Asn266ThrfsTer?)
c.729del (p.Asn244ThrfsTer?)
n.424del
c.897del (p.Asn300ThrfsTer?)
c.708del (p.Asn237ThrfsTer?)
n.423del
19g.41422312G>ACA507690625BCKDHAc.795G>A (p.Arg265=)
c.729G>A (p.Arg243=)
n.424G>A
c.897G>A (p.Arg299=)
c.708G>A (p.Arg236=)
n.423G>A
19g.41422312G>CCA507690624BCKDHAc.795G>C (p.Arg265=)
c.729G>C (p.Arg243=)
n.424G>C
c.897G>C (p.Arg299=)
c.708G>C (p.Arg236=)
n.423G>C
 dbSNP gnomAD v2 gnomAD v4
19g.41422312G=CA2336459057BCKDHAc.795G= (p.Arg265=)
c.729G= (p.Arg243=)
n.424G=
c.897G= (p.Arg299=)
c.708G= (p.Arg236=)
n.423G=
19g.41422312G>TCA507690623BCKDHAc.795G>T (p.Arg265=)
c.729G>T (p.Arg243=)
n.424G>T
c.897G>T (p.Arg299=)
c.708G>T (p.Arg236=)
n.423G>T
19g.41422312_41422313delinsGACA2336459056BCKDHAc.795_796delinsGA (p.Arg265=)
c.729_730delinsGA (p.Arg243=)
n.424_425delinsGA
c.897_898delinsGA (p.Arg299=)
c.708_709delinsGA (p.Arg236=)
n.423_424delinsGA
19g.41422313A>CCA406012966BCKDHAc.796A>C (p.Asn266His)
c.730A>C (p.Asn244His)
n.425A>C
c.898A>C (p.Asn300His)
c.709A>C (p.Asn237His)
n.424A>C
19g.41422313A>GCA406012967BCKDHAc.796A>G (p.Asn266Asp)
c.730A>G (p.Asn244Asp)
n.425A>G
c.898A>G (p.Asn300Asp)
c.709A>G (p.Asn237Asp)
n.424A>G
19g.41422313A>TCA406012968BCKDHAc.796A>T (p.Asn266Tyr)
c.730A>T (p.Asn244Tyr)
n.425A>T
c.898A>T (p.Asn300Tyr)
c.709A>T (p.Asn237Tyr)
n.424A>T
19g.41422313_41422314delinsTCA2739276836BCKDHAc.796_797delinsT (p.Asn266SerfsTer?)
c.730_731delinsT (p.Asn244SerfsTer?)
n.425_426delinsT
c.898_899delinsT (p.Asn300SerfsTer?)
c.709_710delinsT (p.Asn237SerfsTer?)
n.424_425delinsT
 ClinVar
19g.41422314delCA9461258BCKDHAc.797del (p.Asn266ThrfsTer?)
c.731del (p.Asn244ThrfsTer?)
n.426del
c.899del (p.Asn300ThrfsTer?)
c.710del (p.Asn237ThrfsTer?)
n.425del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422314A=CA2336459058BCKDHAc.797A= (p.Asn266=)
c.731A= (p.Asn244=)
n.426A=
c.899A= (p.Asn300=)
c.710A= (p.Asn237=)
n.425A=
19g.41422314A>CCA406012969BCKDHAc.797A>C (p.Asn266Thr)
c.731A>C (p.Asn244Thr)
n.426A>C
c.899A>C (p.Asn300Thr)
c.710A>C (p.Asn237Thr)
n.425A>C
19g.41422314A>GCA406012970BCKDHAc.797A>G (p.Asn266Ser)
c.731A>G (p.Asn244Ser)
n.426A>G
c.899A>G (p.Asn300Ser)
c.710A>G (p.Asn237Ser)
n.425A>G
 dbSNP gnomAD v2 gnomAD v4
19g.41422314A>TCA9461259BCKDHAc.797A>T (p.Asn266Ile)
c.731A>T (p.Asn244Ile)
n.426A>T
c.899A>T (p.Asn300Ile)
c.710A>T (p.Asn237Ile)
n.425A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422314_41422315delinsTCA2695198207BCKDHAc.797_798delinsT (p.Asn266IlefsTer?)
c.731_732delinsT (p.Asn244IlefsTer?)
n.426_427delinsT
c.899_900delinsT (p.Asn300IlefsTer?)
c.710_711delinsT (p.Asn237IlefsTer?)
n.425_426delinsT
 ClinVar
19g.41422315C>ACA406012971BCKDHAc.798C>A (p.Asn266Lys)
c.732C>A (p.Asn244Lys)
n.427C>A
c.900C>A (p.Asn300Lys)
c.711C>A (p.Asn237Lys)
n.426C>A
 gnomAD v4
19g.41422315C=CA2336459059BCKDHAc.798C= (p.Asn266=)
c.732C= (p.Asn244=)
n.427C=
c.900C= (p.Asn300=)
c.711C= (p.Asn237=)
n.426C=
19g.41422315C>GCA406012972BCKDHAc.798C>G (p.Asn266Lys)
c.732C>G (p.Asn244Lys)
n.427C>G
c.900C>G (p.Asn300Lys)
c.711C>G (p.Asn237Lys)
n.426C>G
 dbSNP gnomAD v3 gnomAD v4
19g.41422315C>TCA9461260BCKDHAc.798C>T (p.Asn266=)
c.732C>T (p.Asn244=)
n.427C>T
c.900C>T (p.Asn300=)
c.711C>T (p.Asn237=)
n.426C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422316A>CCA406012975BCKDHAc.799A>C (p.Asn267His)
c.733A>C (p.Asn245His)
n.428A>C
c.901A>C (p.Asn301His)
c.712A>C (p.Asn238His)
n.427A>C
19g.41422316A>GCA406012974BCKDHAc.799A>G (p.Asn267Asp)
c.733A>G (p.Asn245Asp)
n.428A>G
c.901A>G (p.Asn301Asp)
c.712A>G (p.Asn238Asp)
n.427A>G
19g.41422316A>TCA406012973BCKDHAc.799A>T (p.Asn267Tyr)
c.733A>T (p.Asn245Tyr)
n.428A>T
c.901A>T (p.Asn301Tyr)
c.712A>T (p.Asn238Tyr)
n.427A>T
19g.41422317A=CA2336459060BCKDHAc.800A= (p.Asn267=)
c.734A= (p.Asn245=)
n.429A=
c.902A= (p.Asn301=)
c.713A= (p.Asn238=)
n.428A=
19g.41422317A>CCA406012977BCKDHAc.800A>C (p.Asn267Thr)
c.734A>C (p.Asn245Thr)
n.429A>C
c.902A>C (p.Asn301Thr)
c.713A>C (p.Asn238Thr)
n.428A>C
19g.41422317A>GCA406012979BCKDHAc.800A>G (p.Asn267Ser)
c.734A>G (p.Asn245Ser)
n.429A>G
c.902A>G (p.Asn301Ser)
c.713A>G (p.Asn238Ser)
n.428A>G
 ClinVar dbSNP gnomAD v4
19g.41422317A>TCA406012978BCKDHAc.800A>T (p.Asn267Ile)
c.734A>T (p.Asn245Ile)
n.429A>T
c.902A>T (p.Asn301Ile)
c.713A>T (p.Asn238Ile)
n.428A>T
19g.41422318T>ACA406012980BCKDHAc.801T>A (p.Asn267Lys)
c.735T>A (p.Asn245Lys)
n.430T>A
c.903T>A (p.Asn301Lys)
c.714T>A (p.Asn238Lys)
n.429T>A
19g.41422318T>CCA507690627BCKDHAc.801T>C (p.Asn267=)
c.735T>C (p.Asn245=)
n.430T>C
c.903T>C (p.Asn301=)
c.714T>C (p.Asn238=)
n.429T>C
 dbSNP gnomAD v2 gnomAD v4
19g.41422318T>GCA406012981BCKDHAc.801T>G (p.Asn267Lys)
c.735T>G (p.Asn245Lys)
n.430T>G
c.903T>G (p.Asn301Lys)
c.714T>G (p.Asn238Lys)
n.429T>G
19g.41422318T=CA2336459061BCKDHAc.801T= (p.Asn267=)
c.735T= (p.Asn245=)
n.430T=
c.903T= (p.Asn301=)
c.714T= (p.Asn238=)
n.429T=
19g.41422319G>ACA406012982BCKDHAc.802G>A (p.Gly268Ser)
c.736G>A (p.Gly246Ser)
n.431G>A
c.904G>A (p.Gly302Ser)
c.715G>A (p.Gly239Ser)
n.430G>A
19g.41422319G>CCA406012983BCKDHAc.802G>C (p.Gly268Arg)
c.736G>C (p.Gly246Arg)
n.431G>C
c.904G>C (p.Gly302Arg)
c.715G>C (p.Gly239Arg)
n.430G>C
19g.41422319G>TCA406012984BCKDHAc.802G>T (p.Gly268Cys)
c.736G>T (p.Gly246Cys)
n.431G>T
c.904G>T (p.Gly302Cys)
c.715G>T (p.Gly239Cys)
n.430G>T
19g.41422320G>ACA406012985BCKDHAc.803G>A (p.Gly268Asp)
c.737G>A (p.Gly246Asp)
n.432G>A
c.905G>A (p.Gly302Asp)
c.716G>A (p.Gly239Asp)
n.431G>A
19g.41422320G>CCA406012986BCKDHAc.803G>C (p.Gly268Ala)
c.737G>C (p.Gly246Ala)
n.432G>C
c.905G>C (p.Gly302Ala)
c.716G>C (p.Gly239Ala)
n.431G>C
19g.41422320G>TCA406012987BCKDHAc.803G>T (p.Gly268Val)
c.737G>T (p.Gly246Val)
n.432G>T
c.905G>T (p.Gly302Val)
c.716G>T (p.Gly239Val)
n.431G>T
19g.41422321C>ACA507690629BCKDHAc.804C>A (p.Gly268=)
c.738C>A (p.Gly246=)
n.433C>A
c.906C>A (p.Gly302=)
c.717C>A (p.Gly239=)
n.432C>A
19g.41422321C>GCA507690630BCKDHAc.804C>G (p.Gly268=)
c.738C>G (p.Gly246=)
n.433C>G
c.906C>G (p.Gly302=)
c.717C>G (p.Gly239=)
n.432C>G
19g.41422321C>TCA507690631BCKDHAc.804C>T (p.Gly268=)
c.738C>T (p.Gly246=)
n.433C>T
c.906C>T (p.Gly302=)
c.717C>T (p.Gly239=)
n.432C>T
19g.41422322T>ACA406012988BCKDHAc.805T>A (p.Tyr269Asn)
c.739T>A (p.Tyr247Asn)
n.434T>A
c.907T>A (p.Tyr303Asn)
c.718T>A (p.Tyr240Asn)
n.433T>A
19g.41422322T>CCA406012989BCKDHAc.805T>C (p.Tyr269His)
c.739T>C (p.Tyr247His)
n.434T>C
c.907T>C (p.Tyr303His)
c.718T>C (p.Tyr240His)
n.433T>C
19g.41422322T>GCA406012990BCKDHAc.805T>G (p.Tyr269Asp)
c.739T>G (p.Tyr247Asp)
n.434T>G
c.907T>G (p.Tyr303Asp)
c.718T>G (p.Tyr240Asp)
n.433T>G
19g.41422323A>CCA406012991BCKDHAc.806A>C (p.Tyr269Ser)
c.740A>C (p.Tyr247Ser)
n.435A>C
c.908A>C (p.Tyr303Ser)
c.719A>C (p.Tyr240Ser)
n.434A>C
19g.41422323A>GCA406012992BCKDHAc.806A>G (p.Tyr269Cys)
c.740A>G (p.Tyr247Cys)
n.435A>G
c.908A>G (p.Tyr303Cys)
c.719A>G (p.Tyr240Cys)
n.434A>G
19g.41422323A>TCA406012993BCKDHAc.806A>T (p.Tyr269Phe)
c.740A>T (p.Tyr247Phe)
n.435A>T
c.908A>T (p.Tyr303Phe)
c.719A>T (p.Tyr240Phe)
n.434A>T
19g.41422324C>ACA9461261BCKDHAc.807C>A (p.Tyr269Ter)
c.741C>A (p.Tyr247Ter)
n.436C>A
c.909C>A (p.Tyr303Ter)
c.720C>A (p.Tyr240Ter)
n.435C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422324C=CA2336459062BCKDHAc.807C= (p.Tyr269=)
c.741C= (p.Tyr247=)
n.436C=
c.909C= (p.Tyr303=)
c.720C= (p.Tyr240=)
n.435C=
19g.41422324C>GCA406012994BCKDHAc.807C>G (p.Tyr269Ter)
c.741C>G (p.Tyr247Ter)
n.436C>G
c.909C>G (p.Tyr303Ter)
c.720C>G (p.Tyr240Ter)
n.435C>G
19g.41422324C>TCA9461262BCKDHAc.807C>T (p.Tyr269=)
c.741C>T (p.Tyr247=)
n.436C>T
c.909C>T (p.Tyr303=)
c.720C>T (p.Tyr240=)
n.435C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422325G>ACA9461263BCKDHAc.808G>A (p.Ala270Thr)
c.742G>A (p.Ala248Thr)
n.437G>A
c.910G>A (p.Ala304Thr)
c.721G>A (p.Ala241Thr)
n.436G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422325G>CCA406012996BCKDHAc.808G>C (p.Ala270Pro)
c.742G>C (p.Ala248Pro)
n.437G>C
c.910G>C (p.Ala304Pro)
c.721G>C (p.Ala241Pro)
n.436G>C
19g.41422325G=CA2336459063BCKDHAc.808G= (p.Ala270=)
c.742G= (p.Ala248=)
n.437G=
c.910G= (p.Ala304=)
c.721G= (p.Ala241=)
n.436G=
19g.41422325G>TCA406012998BCKDHAc.808G>T (p.Ala270Ser)
c.742G>T (p.Ala248Ser)
n.437G>T
c.910G>T (p.Ala304Ser)
c.721G>T (p.Ala241Ser)
n.436G>T
19g.41422326C>ACA406012999BCKDHAc.809C>A (p.Ala270Asp)
c.743C>A (p.Ala248Asp)
n.438C>A
c.911C>A (p.Ala304Asp)
c.722C>A (p.Ala241Asp)
n.437C>A
19g.41422326C>GCA406013000BCKDHAc.809C>G (p.Ala270Gly)
c.743C>G (p.Ala248Gly)
n.438C>G
c.911C>G (p.Ala304Gly)
c.722C>G (p.Ala241Gly)
n.437C>G
19g.41422326C>TCA406013001BCKDHAc.809C>T (p.Ala270Val)
c.743C>T (p.Ala248Val)
n.438C>T
c.911C>T (p.Ala304Val)
c.722C>T (p.Ala241Val)
n.437C>T
19g.41422327C>ACA507690635BCKDHAc.810C>A (p.Ala270=)
c.744C>A (p.Ala248=)
n.439C>A
c.912C>A (p.Ala304=)
c.723C>A (p.Ala241=)
n.438C>A
19g.41422327C=CA2336459064BCKDHAc.810C= (p.Ala270=)
c.744C= (p.Ala248=)
n.439C=
c.912C= (p.Ala304=)
c.723C= (p.Ala241=)
n.438C=
19g.41422327C>GCA507690636BCKDHAc.810C>G (p.Ala270=)
c.744C>G (p.Ala248=)
n.439C>G
c.912C>G (p.Ala304=)
c.723C>G (p.Ala241=)
n.438C>G
19g.41422327C>TCA507690637BCKDHAc.810C>T (p.Ala270=)
c.744C>T (p.Ala248=)
n.439C>T
c.912C>T (p.Ala304=)
c.723C>T (p.Ala241=)
n.438C>T
 ClinVar dbSNP
19g.41422328A>CCA406013002BCKDHAc.811A>C (p.Ile271Leu)
c.745A>C (p.Ile249Leu)
n.440A>C
c.913A>C (p.Ile305Leu)
c.724A>C (p.Ile242Leu)
n.439A>C
19g.41422328A>GCA406013003BCKDHAc.811A>G (p.Ile271Val)
c.745A>G (p.Ile249Val)
n.440A>G
c.913A>G (p.Ile305Val)
c.724A>G (p.Ile242Val)
n.439A>G
19g.41422328A>TCA406013004BCKDHAc.811A>T (p.Ile271Phe)
c.745A>T (p.Ile249Phe)
n.440A>T
c.913A>T (p.Ile305Phe)
c.724A>T (p.Ile242Phe)
n.439A>T
19g.41422329T>ACA406013006BCKDHAc.812T>A (p.Ile271Asn)
c.746T>A (p.Ile249Asn)
n.441T>A
c.914T>A (p.Ile305Asn)
c.725T>A (p.Ile242Asn)
n.440T>A
19g.41422329T>CCA406013007BCKDHAc.812T>C (p.Ile271Thr)
c.746T>C (p.Ile249Thr)
n.441T>C
c.914T>C (p.Ile305Thr)
c.725T>C (p.Ile242Thr)
n.440T>C
19g.41422329T>GCA406013005BCKDHAc.812T>G (p.Ile271Ser)
c.746T>G (p.Ile249Ser)
n.441T>G
c.914T>G (p.Ile305Ser)
c.725T>G (p.Ile242Ser)
n.440T>G
19g.41422330C>ACA507690638BCKDHAc.813C>A (p.Ile271=)
c.747C>A (p.Ile249=)
n.442C>A
c.915C>A (p.Ile305=)
c.726C>A (p.Ile242=)
n.441C>A
 gnomAD v4
19g.41422330C>GCA406013008BCKDHAc.813C>G (p.Ile271Met)
c.747C>G (p.Ile249Met)
n.442C>G
c.915C>G (p.Ile305Met)
c.726C>G (p.Ile242Met)
n.441C>G
19g.41422330C>TCA507690639BCKDHAc.813C>T (p.Ile271=)
c.747C>T (p.Ile249=)
n.442C>T
c.915C>T (p.Ile305=)
c.726C>T (p.Ile242=)
n.441C>T
19g.41422331T>ACA406013009BCKDHAc.814T>A (p.Ser272Thr)
c.748T>A (p.Ser250Thr)
n.443T>A
c.916T>A (p.Ser306Thr)
c.727T>A (p.Ser243Thr)
n.442T>A
19g.41422331T>CCA406013010BCKDHAc.814T>C (p.Ser272Pro)
c.748T>C (p.Ser250Pro)
n.443T>C
c.916T>C (p.Ser306Pro)
c.727T>C (p.Ser243Pro)
n.442T>C
19g.41422331T>GCA406013011BCKDHAc.814T>G (p.Ser272Ala)
c.748T>G (p.Ser250Ala)
n.443T>G
c.916T>G (p.Ser306Ala)
c.727T>G (p.Ser243Ala)
n.442T>G
19g.41422332C>ACA406013012BCKDHAc.815C>A (p.Ser272Tyr)
c.749C>A (p.Ser250Tyr)
n.444C>A
c.917C>A (p.Ser306Tyr)
c.728C>A (p.Ser243Tyr)
n.443C>A
19g.41422332C>GCA406013013BCKDHAc.815C>G (p.Ser272Cys)
c.749C>G (p.Ser250Cys)
n.444C>G
c.917C>G (p.Ser306Cys)
c.728C>G (p.Ser243Cys)
n.443C>G
19g.41422332C>TCA406013014BCKDHAc.815C>T (p.Ser272Phe)
c.749C>T (p.Ser250Phe)
n.444C>T
c.917C>T (p.Ser306Phe)
c.728C>T (p.Ser243Phe)
n.443C>T
 COSMIC
19g.41422333C>ACA507690644BCKDHAc.816C>A (p.Ser272=)
c.750C>A (p.Ser250=)
n.445C>A
c.918C>A (p.Ser306=)
c.729C>A (p.Ser243=)
n.444C>A
19g.41422333C>GCA507690642BCKDHAc.816C>G (p.Ser272=)
c.750C>G (p.Ser250=)
n.445C>G
c.918C>G (p.Ser306=)
c.729C>G (p.Ser243=)
n.444C>G
 ClinVar
19g.41422333C>TCA507690643BCKDHAc.816C>T (p.Ser272=)
c.750C>T (p.Ser250=)
n.445C>T
c.918C>T (p.Ser306=)
c.729C>T (p.Ser243=)
n.444C>T
 gnomAD v4
19g.41422334A=CA2336459065BCKDHAc.817A= (p.Thr273=)
c.751A= (p.Thr251=)
n.446A=
c.919A= (p.Thr307=)
c.730A= (p.Thr244=)
n.445A=
19g.41422334A>CCA406013015BCKDHAc.817A>C (p.Thr273Pro)
c.751A>C (p.Thr251Pro)
n.446A>C
c.919A>C (p.Thr307Pro)
c.730A>C (p.Thr244Pro)
n.445A>C
 gnomAD v4
19g.41422334A>GCA221217BCKDHAc.817A>G (p.Thr273Ala)
c.751A>G (p.Thr251Ala)
n.446A>G
c.919A>G (p.Thr307Ala)
c.730A>G (p.Thr244Ala)
n.445A>G
 ClinVar dbSNP
19g.41422334A>TCA406013016BCKDHAc.817A>T (p.Thr273Ser)
c.751A>T (p.Thr251Ser)
n.446A>T
c.919A>T (p.Thr307Ser)
c.730A>T (p.Thr244Ser)
n.445A>T
 gnomAD v4
19g.41422335C>ACA406013017BCKDHAc.818C>A (p.Thr273Lys)
c.752C>A (p.Thr251Lys)
n.447C>A
c.920C>A (p.Thr307Lys)
c.731C>A (p.Thr244Lys)
n.446C>A
19g.41422335C=CA2336459066BCKDHAc.818C= (p.Thr273=)
c.752C= (p.Thr251=)
n.447C=
c.920C= (p.Thr307=)
c.731C= (p.Thr244=)
n.446C=
19g.41422335C>GCA406013018BCKDHAc.818C>G (p.Thr273Arg)
c.752C>G (p.Thr251Arg)
n.447C>G
c.920C>G (p.Thr307Arg)
c.731C>G (p.Thr244Arg)
n.446C>G
19g.41422335C>TCA406013019BCKDHAc.818C>T (p.Thr273Met)
c.752C>T (p.Thr251Met)
n.447C>T
c.920C>T (p.Thr307Met)
c.731C>T (p.Thr244Met)
n.446C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422336G>ACA9461265BCKDHAc.819G>A (p.Thr273=)
c.753G>A (p.Thr251=)
n.448G>A
c.921G>A (p.Thr307=)
c.732G>A (p.Thr244=)
n.447G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41422336G>CCA507690645BCKDHAc.819G>C (p.Thr273=)
c.753G>C (p.Thr251=)
n.448G>C
c.921G>C (p.Thr307=)
c.732G>C (p.Thr244=)
n.447G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422336G=CA2336459067BCKDHAc.819G= (p.Thr273=)
c.753G= (p.Thr251=)
n.448G=
c.921G= (p.Thr307=)
c.732G= (p.Thr244=)
n.447G=
19g.41422336G>TCA9461264BCKDHAc.819G>T (p.Thr273=)
c.753G>T (p.Thr251=)
n.448G>T
c.921G>T (p.Thr307=)
c.732G>T (p.Thr244=)
n.447G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422337C>ACA406013020BCKDHAc.820C>A (p.Pro274Thr)
c.754C>A (p.Pro252Thr)
n.449C>A
c.922C>A (p.Pro308Thr)
c.733C>A (p.Pro245Thr)
n.448C>A
19g.41422337C>GCA406013021BCKDHAc.820C>G (p.Pro274Ala)
c.754C>G (p.Pro252Ala)
n.449C>G
c.922C>G (p.Pro308Ala)
c.733C>G (p.Pro245Ala)
n.448C>G
19g.41422337C>TCA406013022BCKDHAc.820C>T (p.Pro274Ser)
c.754C>T (p.Pro252Ser)
n.449C>T
c.922C>T (p.Pro308Ser)
c.733C>T (p.Pro245Ser)
n.448C>T
19g.41422338C>ACA406013023BCKDHAc.821C>A (p.Pro274His)
c.755C>A (p.Pro252His)
n.450C>A
c.923C>A (p.Pro308His)
c.734C>A (p.Pro245His)
n.449C>A
19g.41422338C>GCA406013024BCKDHAc.821C>G (p.Pro274Arg)
c.755C>G (p.Pro252Arg)
n.450C>G
c.923C>G (p.Pro308Arg)
c.734C>G (p.Pro245Arg)
n.449C>G
19g.41422338C>TCA406013025BCKDHAc.821C>T (p.Pro274Leu)
c.755C>T (p.Pro252Leu)
n.450C>T
c.923C>T (p.Pro308Leu)
c.734C>T (p.Pro245Leu)
n.449C>T
 gnomAD v4
19g.41422339C>ACA507690647BCKDHAc.822C>A (p.Pro274=)
c.756C>A (p.Pro252=)
n.451C>A
c.924C>A (p.Pro308=)
c.735C>A (p.Pro245=)
n.450C>A
19g.41422339C>GCA507690648BCKDHAc.822C>G (p.Pro274=)
c.756C>G (p.Pro252=)
n.451C>G
c.924C>G (p.Pro308=)
c.735C>G (p.Pro245=)
n.450C>G
19g.41422339C>TCA507690649BCKDHAc.822C>T (p.Pro274=)
c.756C>T (p.Pro252=)
n.451C>T
c.924C>T (p.Pro308=)
c.735C>T (p.Pro245=)
n.450C>T
 ClinVar dbSNP
19g.41422340A>CCA406013027BCKDHAc.823A>C (p.Thr275Pro)
c.757A>C (p.Thr253Pro)
n.452A>C
c.925A>C (p.Thr309Pro)
c.736A>C (p.Thr246Pro)
n.451A>C
19g.41422340A>GCA406013028BCKDHAc.823A>G (p.Thr275Ala)
c.757A>G (p.Thr253Ala)
n.452A>G
c.925A>G (p.Thr309Ala)
c.736A>G (p.Thr246Ala)
n.451A>G
19g.41422340A>TCA406013029BCKDHAc.823A>T (p.Thr275Ser)
c.757A>T (p.Thr253Ser)
n.452A>T
c.925A>T (p.Thr309Ser)
c.736A>T (p.Thr246Ser)
n.451A>T
19g.41422341C>ACA406013030BCKDHAc.824C>A (p.Thr275Asn)
c.758C>A (p.Thr253Asn)
n.453C>A
c.926C>A (p.Thr309Asn)
c.737C>A (p.Thr246Asn)
n.452C>A
19g.41422341C>GCA406013031BCKDHAc.824C>G (p.Thr275Ser)
c.758C>G (p.Thr253Ser)
n.453C>G
c.926C>G (p.Thr309Ser)
c.737C>G (p.Thr246Ser)
n.452C>G
19g.41422341C>TCA406013032BCKDHAc.824C>T (p.Thr275Ile)
c.758C>T (p.Thr253Ile)
n.453C>T
c.926C>T (p.Thr309Ile)
c.737C>T (p.Thr246Ile)
n.452C>T
 gnomAD v4
19g.41422342C>ACA507690651BCKDHAc.825C>A (p.Thr275=)
c.759C>A (p.Thr253=)
n.454C>A
c.927C>A (p.Thr309=)
c.738C>A (p.Thr246=)
n.453C>A
19g.41422342C=CA2336459068BCKDHAc.825C= (p.Thr275=)
c.759C= (p.Thr253=)
n.454C=
c.927C= (p.Thr309=)
c.738C= (p.Thr246=)
n.453C=
19g.41422342C>GCA507690652BCKDHAc.825C>G (p.Thr275=)
c.759C>G (p.Thr253=)
n.454C>G
c.927C>G (p.Thr309=)
c.738C>G (p.Thr246=)
n.453C>G
19g.41422342C>TCA507690653BCKDHAc.825C>T (p.Thr275=)
c.759C>T (p.Thr253=)
n.454C>T
c.927C>T (p.Thr309=)
c.738C>T (p.Thr246=)
n.453C>T
 ClinVar dbSNP
19g.41422343T>ACA406013034BCKDHAc.826T>A (p.Ser276Thr)
c.760T>A (p.Ser254Thr)
n.455T>A
c.928T>A (p.Ser310Thr)
c.739T>A (p.Ser247Thr)
n.454T>A
19g.41422343T>CCA406013035BCKDHAc.826T>C (p.Ser276Pro)
c.760T>C (p.Ser254Pro)
n.455T>C
c.928T>C (p.Ser310Pro)
c.739T>C (p.Ser247Pro)
n.454T>C
19g.41422343T>GCA406013033BCKDHAc.826T>G (p.Ser276Ala)
c.760T>G (p.Ser254Ala)
n.455T>G
c.928T>G (p.Ser310Ala)
c.739T>G (p.Ser247Ala)
n.454T>G
19g.41422344C>ACA406013038BCKDHAc.827C>A (p.Ser276Tyr)
c.761C>A (p.Ser254Tyr)
n.456C>A
c.929C>A (p.Ser310Tyr)
c.740C>A (p.Ser247Tyr)
n.455C>A
19g.41422344C>GCA406013036BCKDHAc.827C>G (p.Ser276Cys)
c.761C>G (p.Ser254Cys)
n.456C>G
c.929C>G (p.Ser310Cys)
c.740C>G (p.Ser247Cys)
n.455C>G
19g.41422344C>TCA406013037BCKDHAc.827C>T (p.Ser276Phe)
c.761C>T (p.Ser254Phe)
n.456C>T
c.929C>T (p.Ser310Phe)
c.740C>T (p.Ser247Phe)
n.455C>T
19g.41422345T>ACA507690654BCKDHAc.828T>A (p.Ser276=)
c.762T>A (p.Ser254=)
n.457T>A
c.930T>A (p.Ser310=)
c.741T>A (p.Ser247=)
n.456T>A
19g.41422345T>CCA507690655BCKDHAc.828T>C (p.Ser276=)
c.762T>C (p.Ser254=)
n.457T>C
c.930T>C (p.Ser310=)
c.741T>C (p.Ser247=)
n.456T>C
 dbSNP
19g.41422345T>GCA507690656BCKDHAc.828T>G (p.Ser276=)
c.762T>G (p.Ser254=)
n.457T>G
c.930T>G (p.Ser310=)
c.741T>G (p.Ser247=)
n.456T>G
 ClinVar dbSNP gnomAD v4
19g.41422345T=CA2336459069BCKDHAc.828T= (p.Ser276=)
c.762T= (p.Ser254=)
n.457T=
c.930T= (p.Ser310=)
c.741T= (p.Ser247=)
n.456T=
19g.41422346G>ACA406013039BCKDHAc.829G>A (p.Glu277Lys)
c.763G>A (p.Glu255Lys)
n.458G>A
c.931G>A (p.Glu311Lys)
c.742G>A (p.Glu248Lys)
n.457G>A
19g.41422346G>CCA406013040BCKDHAc.829G>C (p.Glu277Gln)
c.763G>C (p.Glu255Gln)
n.458G>C
c.931G>C (p.Glu311Gln)
c.742G>C (p.Glu248Gln)
n.457G>C
19g.41422346G>TCA406013041BCKDHAc.829G>T (p.Glu277Ter)
c.763G>T (p.Glu255Ter)
n.458G>T
c.931G>T (p.Glu311Ter)
c.742G>T (p.Glu248Ter)
n.457G>T
19g.41422347A=CA2336459070BCKDHAc.830A= (p.Glu277=)
c.764A= (p.Glu255=)
n.459A=
c.932A= (p.Glu311=)
c.743A= (p.Glu248=)
n.458A=
19g.41422347A>CCA406013042BCKDHAc.830A>C (p.Glu277Ala)
c.764A>C (p.Glu255Ala)
n.459A>C
c.932A>C (p.Glu311Ala)
c.743A>C (p.Glu248Ala)
n.458A>C
19g.41422347A>GCA406013043BCKDHAc.830A>G (p.Glu277Gly)
c.764A>G (p.Glu255Gly)
n.459A>G
c.932A>G (p.Glu311Gly)
c.743A>G (p.Glu248Gly)
n.458A>G
 dbSNP gnomAD v2 gnomAD v4
19g.41422347A>TCA406013045BCKDHAc.830A>T (p.Glu277Val)
c.764A>T (p.Glu255Val)
n.459A>T
c.932A>T (p.Glu311Val)
c.743A>T (p.Glu248Val)
n.458A>T
19g.41422348G>ACA507690657BCKDHAc.831G>A (p.Glu277=)
c.765G>A (p.Glu255=)
n.460G>A
c.933G>A (p.Glu311=)
c.744G>A (p.Glu248=)
n.459G>A
 gnomAD v4
19g.41422348G>CCA406013047BCKDHAc.831G>C (p.Glu277Asp)
c.765G>C (p.Glu255Asp)
n.460G>C
c.933G>C (p.Glu311Asp)
c.744G>C (p.Glu248Asp)
n.459G>C
19g.41422348G>TCA406013048BCKDHAc.831G>T (p.Glu277Asp)
c.765G>T (p.Glu255Asp)
n.460G>T
c.933G>T (p.Glu311Asp)
c.744G>T (p.Glu248Asp)
n.459G>T
19g.41422349C>ACA406013049BCKDHAc.832C>A (p.Gln278Lys)
c.766C>A (p.Gln256Lys)
n.461C>A
c.934C>A (p.Gln312Lys)
c.745C>A (p.Gln249Lys)
n.460C>A
19g.41422349C>GCA406013050BCKDHAc.832C>G (p.Gln278Glu)
c.766C>G (p.Gln256Glu)
n.461C>G
c.934C>G (p.Gln312Glu)
c.745C>G (p.Gln249Glu)
n.460C>G
19g.41422349C>TCA406013051BCKDHAc.832C>T (p.Gln278Ter)
c.766C>T (p.Gln256Ter)
n.461C>T
c.934C>T (p.Gln312Ter)
c.745C>T (p.Gln249Ter)
n.460C>T
 gnomAD v4
19g.41422350A>CCA406013054BCKDHAc.833A>C (p.Gln278Pro)
c.767A>C (p.Gln256Pro)
n.462A>C
c.935A>C (p.Gln312Pro)
c.746A>C (p.Gln249Pro)
n.461A>C
19g.41422350A>GCA406013052BCKDHAc.833A>G (p.Gln278Arg)
c.767A>G (p.Gln256Arg)
n.462A>G
c.935A>G (p.Gln312Arg)
c.746A>G (p.Gln249Arg)
n.461A>G
 gnomAD v4
19g.41422350A>TCA406013053BCKDHAc.833A>T (p.Gln278Leu)
c.767A>T (p.Gln256Leu)
n.462A>T
c.935A>T (p.Gln312Leu)
c.746A>T (p.Gln249Leu)
n.461A>T
19g.41422351G>ACA507690659BCKDHAc.834G>A (p.Gln278=)
c.768G>A (p.Gln256=)
n.463G>A
c.936G>A (p.Gln312=)
c.747G>A (p.Gln249=)
n.462G>A
 dbSNP
19g.41422351G>CCA406013055BCKDHAc.834G>C (p.Gln278His)
c.768G>C (p.Gln256His)
n.463G>C
c.936G>C (p.Gln312His)
c.747G>C (p.Gln249His)
n.462G>C
19g.41422351G=CA2336459072BCKDHAc.834G= (p.Gln278=)
c.768G= (p.Gln256=)
n.463G=
c.936G= (p.Gln312=)
c.747G= (p.Gln249=)
n.462G=
19g.41422351G>TCA406013056BCKDHAc.834G>T (p.Gln278His)
c.768G>T (p.Gln256His)
n.463G>T
c.936G>T (p.Gln312His)
c.747G>T (p.Gln249His)
n.462G>T
19g.41422351_41422352delinsGTCA2336459071BCKDHAc.834_835delinsGT (p.Gln278=)
c.768_769delinsGT (p.Gln256=)
n.463_464delinsGT
c.936_937delinsGT (p.Gln312=)
c.747_748delinsGT (p.Gln249=)
n.462_463delinsGT
19g.41422352delCA9461266BCKDHAc.835del (p.Tyr279IlefsTer?)
c.769del (p.Tyr257IlefsTer?)
n.464del
c.937del (p.Tyr313IlefsTer?)
c.748del (p.Tyr250IlefsTer?)
n.463del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422352T>ACA406013057BCKDHAc.835T>A (p.Tyr279Asn)
c.769T>A (p.Tyr257Asn)
n.464T>A
c.937T>A (p.Tyr313Asn)
c.748T>A (p.Tyr250Asn)
n.463T>A
19g.41422352T>CCA406013058BCKDHAc.835T>C (p.Tyr279His)
c.769T>C (p.Tyr257His)
n.464T>C
c.937T>C (p.Tyr313His)
c.748T>C (p.Tyr250His)
n.463T>C
19g.41422352T>GCA406013059BCKDHAc.835T>G (p.Tyr279Asp)
c.769T>G (p.Tyr257Asp)
n.464T>G
c.937T>G (p.Tyr313Asp)
c.748T>G (p.Tyr250Asp)
n.463T>G
19g.41422353delCA406013062BCKDHAc.836del (p.Tyr279PhefsTer?)
c.770del (p.Tyr257PhefsTer?)
n.465del
c.938del (p.Tyr313PhefsTer?)
c.749del (p.Tyr250PhefsTer?)
n.464del
19g.41422353A=CA2336459073BCKDHAc.836A= (p.Tyr279=)
c.770A= (p.Tyr257=)
n.465A=
c.938A= (p.Tyr313=)
c.749A= (p.Tyr250=)
n.464A=
19g.41422353A>CCA406013060BCKDHAc.836A>C (p.Tyr279Ser)
c.770A>C (p.Tyr257Ser)
n.465A>C
c.938A>C (p.Tyr313Ser)
c.749A>C (p.Tyr250Ser)
n.464A>C
19g.41422353A>GCA9461267BCKDHAc.836A>G (p.Tyr279Cys)
c.770A>G (p.Tyr257Cys)
n.465A>G
c.938A>G (p.Tyr313Cys)
c.749A>G (p.Tyr250Cys)
n.464A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422353A>TCA406013061BCKDHAc.836A>T (p.Tyr279Phe)
c.770A>T (p.Tyr257Phe)
n.465A>T
c.938A>T (p.Tyr313Phe)
c.749A>T (p.Tyr250Phe)
n.464A>T
19g.41422354T>ACA406013063BCKDHAc.837T>A (p.Tyr279Ter)
c.771T>A (p.Tyr257Ter)
n.466T>A
c.939T>A (p.Tyr313Ter)
c.750T>A (p.Tyr250Ter)
n.465T>A
19g.41422354T>CCA507690662BCKDHAc.837T>C (p.Tyr279=)
c.771T>C (p.Tyr257=)
n.466T>C
c.939T>C (p.Tyr313=)
c.750T>C (p.Tyr250=)
n.465T>C
19g.41422354T>GCA406013064BCKDHAc.837T>G (p.Tyr279Ter)
c.771T>G (p.Tyr257Ter)
n.466T>G
c.939T>G (p.Tyr313Ter)
c.750T>G (p.Tyr250Ter)
n.465T>G
19g.41422355C>ACA308524454BCKDHAc.838C>A (p.Arg280Ser)
c.772C>A (p.Arg258Ser)
n.467C>A
c.940C>A (p.Arg314Ser)
c.751C>A (p.Arg251Ser)
n.466C>A
 dbSNP
19g.41422355C=CA2336459074BCKDHAc.838C= (p.Arg280=)
c.772C= (p.Arg258=)
n.467C=
c.940C= (p.Arg314=)
c.751C= (p.Arg251=)
n.466C=
19g.41422355C>GCA406013065BCKDHAc.838C>G (p.Arg280Gly)
c.772C>G (p.Arg258Gly)
n.467C>G
c.940C>G (p.Arg314Gly)
c.751C>G (p.Arg251Gly)
n.466C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422355C>TCA9461268BCKDHAc.838C>T (p.Arg280Cys)
c.772C>T (p.Arg258Cys)
n.467C>T
c.940C>T (p.Arg314Cys)
c.751C>T (p.Arg251Cys)
n.466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422356G>ACA308524460BCKDHAc.839G>A (p.Arg280His)
c.773G>A (p.Arg258His)
n.468G>A
c.941G>A (p.Arg314His)
c.752G>A (p.Arg251His)
n.467G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422356G>CCA406013066BCKDHAc.839G>C (p.Arg280Pro)
c.773G>C (p.Arg258Pro)
n.468G>C
c.941G>C (p.Arg314Pro)
c.752G>C (p.Arg251Pro)
n.467G>C
19g.41422356G=CA2336459075BCKDHAc.839G= (p.Arg280=)
c.773G= (p.Arg258=)
n.468G=
c.941G= (p.Arg314=)
c.752G= (p.Arg251=)
n.467G=
19g.41422356G>TCA406013067BCKDHAc.839G>T (p.Arg280Leu)
c.773G>T (p.Arg258Leu)
n.468G>T
c.941G>T (p.Arg314Leu)
c.752G>T (p.Arg251Leu)
n.467G>T
 gnomAD v4
19g.41422357C>ACA507690664BCKDHAc.840C>A (p.Arg280=)
c.774C>A (p.Arg258=)
n.469C>A
c.942C>A (p.Arg314=)
c.753C>A (p.Arg251=)
n.468C>A
19g.41422357C=CA2336459076BCKDHAc.840C= (p.Arg280=)
c.774C= (p.Arg258=)
n.469C=
c.942C= (p.Arg314=)
c.753C= (p.Arg251=)
n.468C=
19g.41422357C>GCA507690665BCKDHAc.840C>G (p.Arg280=)
c.774C>G (p.Arg258=)
n.469C>G
c.942C>G (p.Arg314=)
c.753C>G (p.Arg251=)
n.468C>G
19g.41422357C>TCA9461269BCKDHAc.840C>T (p.Arg280=)
c.774C>T (p.Arg258=)
n.469C>T
c.942C>T (p.Arg314=)
c.753C>T (p.Arg251=)
n.468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422358G>ACA9461270BCKDHAc.841G>A (p.Gly281Ser)
c.775G>A (p.Gly259Ser)
n.470G>A
c.943G>A (p.Gly315Ser)
c.754G>A (p.Gly252Ser)
n.469G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422358G>CCA406013068BCKDHAc.841G>C (p.Gly281Arg)
c.775G>C (p.Gly259Arg)
n.470G>C
c.943G>C (p.Gly315Arg)
c.754G>C (p.Gly252Arg)
n.469G>C
19g.41422358G=CA2336459077BCKDHAc.841G= (p.Gly281=)
c.775G= (p.Gly259=)
n.470G=
c.943G= (p.Gly315=)
c.754G= (p.Gly252=)
n.469G=
19g.41422358G>TCA406013069BCKDHAc.841G>T (p.Gly281Cys)
c.775G>T (p.Gly259Cys)
n.470G>T
c.943G>T (p.Gly315Cys)
c.754G>T (p.Gly252Cys)
n.469G>T
19g.41422359G>ACA406013070BCKDHAc.842G>A (p.Gly281Asp)
c.776G>A (p.Gly259Asp)
n.471G>A
c.944G>A (p.Gly315Asp)
c.755G>A (p.Gly252Asp)
n.470G>A
19g.41422359G>CCA406013071BCKDHAc.842G>C (p.Gly281Ala)
c.776G>C (p.Gly259Ala)
n.471G>C
c.944G>C (p.Gly315Ala)
c.755G>C (p.Gly252Ala)
n.470G>C
19g.41422359G=CA2336459078BCKDHAc.842G= (p.Gly281=)
c.776G= (p.Gly259=)
n.471G=
c.944G= (p.Gly315=)
c.755G= (p.Gly252=)
n.470G=
19g.41422359G>TCA10648755BCKDHAc.842G>T (p.Gly281Val)
c.776G>T (p.Gly259Val)
n.471G>T
c.944G>T (p.Gly315Val)
c.755G>T (p.Gly252Val)
n.470G>T
 ClinVar dbSNP gnomAD v4
19g.41422360C>ACA507690666BCKDHAc.843C>A (p.Gly281=)
c.777C>A (p.Gly259=)
n.472C>A
c.945C>A (p.Gly315=)
c.756C>A (p.Gly252=)
n.471C>A
19g.41422360C=CA2336459079BCKDHAc.843C= (p.Gly281=)
c.777C= (p.Gly259=)
n.472C=
c.945C= (p.Gly315=)
c.756C= (p.Gly252=)
n.471C=
19g.41422360C>GCA507690667BCKDHAc.843C>G (p.Gly281=)
c.777C>G (p.Gly259=)
n.472C>G
c.945C>G (p.Gly315=)
c.756C>G (p.Gly252=)
n.471C>G
 gnomAD v4
19g.41422360C>TCA9461271BCKDHAc.843C>T (p.Gly281=)
c.777C>T (p.Gly259=)
n.472C>T
c.945C>T (p.Gly315=)
c.756C>T (p.Gly252=)
n.471C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422361G>ACA406013072BCKDHAc.844G>A (p.Asp282Asn)
c.778G>A (p.Asp260Asn)
n.473G>A
c.946G>A (p.Asp316Asn)
c.757G>A (p.Asp253Asn)
n.472G>A
 dbSNP gnomAD v4 COSMIC
19g.41422361G>CCA354918BCKDHAc.844G>C (p.Asp282His)
c.778G>C (p.Asp260His)
n.473G>C
c.946G>C (p.Asp316His)
c.757G>C (p.Asp253His)
n.472G>C
 ClinVar dbSNP gnomAD v4
19g.41422361G=CA2336459080BCKDHAc.844G= (p.Asp282=)
c.778G= (p.Asp260=)
n.473G=
c.946G= (p.Asp316=)
c.757G= (p.Asp253=)
n.472G=
19g.41422361G>TCA406013073BCKDHAc.844G>T (p.Asp282Tyr)
c.778G>T (p.Asp260Tyr)
n.473G>T
c.946G>T (p.Asp316Tyr)
c.757G>T (p.Asp253Tyr)
n.472G>T

Number of alleles fetched