Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched