Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41414149G>ACA354907BCKDHAc.476G>A (p.Arg159Gln)
c.410G>A (p.Arg137Gln)
n.602G>A
c.578G>A (p.Arg193Gln)
c.283G>A
c.389G>A (p.Arg130Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41414149G>CCA406008392BCKDHAc.476G>C (p.Arg159Pro)
c.410G>C (p.Arg137Pro)
n.602G>C
c.578G>C (p.Arg193Pro)
c.283G>C
c.389G>C (p.Arg130Pro)
19g.41414149G=CA2336455371BCKDHAc.476G= (p.Arg159=)
c.410G= (p.Arg137=)
n.602G=
c.578G= (p.Arg193=)
c.283G=
c.389G= (p.Arg130=)
19g.41414149G>TCA406008383BCKDHAc.476G>T (p.Arg159Leu)
c.410G>T (p.Arg137Leu)
n.602G>T
c.578G>T (p.Arg193Leu)
c.283G>T
c.389G>T (p.Arg130Leu)
19g.41414150G>ACA507558175BCKDHAc.477G>A (p.Arg159=)
c.411G>A (p.Arg137=)
n.603G>A
c.579G>A (p.Arg193=)
c.284G>A
c.390G>A (p.Arg130=)
 dbSNP gnomAD v2
19g.41414150G>CCA507558178BCKDHAc.477G>C (p.Arg159=)
c.411G>C (p.Arg137=)
n.603G>C
c.579G>C (p.Arg193=)
c.284G>C
c.390G>C (p.Arg130=)
19g.41414150G=CA2336455372BCKDHAc.477G= (p.Arg159=)
c.411G= (p.Arg137=)
n.603G=
c.579G= (p.Arg193=)
c.284G=
c.390G= (p.Arg130=)
19g.41414150G>TCA507558181BCKDHAc.477G>T (p.Arg159=)
c.411G>T (p.Arg137=)
n.603G>T
c.579G>T (p.Arg193=)
c.284G>T
c.390G>T (p.Arg130=)
19g.41414151G>ACA406008397BCKDHAc.478G>A (p.Glu160Lys)
c.412G>A (p.Glu138Lys)
n.604G>A
c.580G>A (p.Glu194Lys)
c.285G>A
c.391G>A (p.Glu131Lys)
 dbSNP
19g.41414151G>CCA406008404BCKDHAc.478G>C (p.Glu160Gln)
c.412G>C (p.Glu138Gln)
n.604G>C
c.580G>C (p.Glu194Gln)
c.285G>C
c.391G>C (p.Glu131Gln)
19g.41414151G=CA2336455373BCKDHAc.478G= (p.Glu160=)
c.412G= (p.Glu138=)
n.604G=
c.580G= (p.Glu194=)
c.285G=
c.391G= (p.Glu131=)
19g.41414151G>TCA406008408BCKDHAc.478G>T (p.Glu160Ter)
c.412G>T (p.Glu138Ter)
n.604G>T
c.580G>T (p.Glu194Ter)
c.285G>T
c.391G>T (p.Glu131Ter)
19g.41414152A>CCA406008412BCKDHAc.479A>C (p.Glu160Ala)
c.413A>C (p.Glu138Ala)
n.605A>C
c.581A>C (p.Glu194Ala)
c.286A>C
c.392A>C (p.Glu131Ala)
19g.41414152A>GCA406008414BCKDHAc.479A>G (p.Glu160Gly)
c.413A>G (p.Glu138Gly)
n.605A>G
c.581A>G (p.Glu194Gly)
c.286A>G
c.392A>G (p.Glu131Gly)
19g.41414152A>TCA406008417BCKDHAc.479A>T (p.Glu160Val)
c.413A>T (p.Glu138Val)
n.605A>T
c.581A>T (p.Glu194Val)
c.286A>T
c.392A>T (p.Glu131Val)
19g.41414153G>ACA507558182BCKDHAc.480G>A (p.Glu160=)
c.414G>A (p.Glu138=)
n.606G>A
c.582G>A (p.Glu194=)
c.287G>A
c.393G>A (p.Glu131=)
 dbSNP gnomAD v2 gnomAD v4
19g.41414153G>CCA406008421BCKDHAc.480G>C (p.Glu160Asp)
c.414G>C (p.Glu138Asp)
n.606G>C
c.582G>C (p.Glu194Asp)
c.287G>C
c.393G>C (p.Glu131Asp)
19g.41414153G=CA2336455374BCKDHAc.480G= (p.Glu160=)
c.414G= (p.Glu138=)
n.606G=
c.582G= (p.Glu194=)
c.287G=
c.393G= (p.Glu131=)
19g.41414153G>TCA406008426BCKDHAc.480G>T (p.Glu160Asp)
c.414G>T (p.Glu138Asp)
n.606G>T
c.582G>T (p.Glu194Asp)
c.287G>T
c.393G>T (p.Glu131Asp)
19g.41414154G>ACA406008431BCKDHAc.481G>A (p.Ala161Thr)
c.415G>A (p.Ala139Thr)
n.607G>A
c.583G>A (p.Ala195Thr)
c.288G>A
c.394G>A (p.Ala132Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.41414154G>CCA406008443BCKDHAc.481G>C (p.Ala161Pro)
c.415G>C (p.Ala139Pro)
n.607G>C
c.583G>C (p.Ala195Pro)
c.288G>C
c.394G>C (p.Ala132Pro)
19g.41414154G=CA2336455375BCKDHAc.481G= (p.Ala161=)
c.415G= (p.Ala139=)
n.607G=
c.583G= (p.Ala195=)
c.288G=
c.394G= (p.Ala132=)
19g.41414154G>TCA406008447BCKDHAc.481G>T (p.Ala161Ser)
c.415G>T (p.Ala139Ser)
n.607G>T
c.583G>T (p.Ala195Ser)
c.288G>T
c.394G>T (p.Ala132Ser)
19g.41414155C>ACA406008470BCKDHAc.482C>A (p.Ala161Glu)
c.416C>A (p.Ala139Glu)
n.608C>A
c.584C>A (p.Ala195Glu)
c.289C>A
c.395C>A (p.Ala132Glu)
19g.41414155C>GCA406008467BCKDHAc.482C>G (p.Ala161Gly)
c.416C>G (p.Ala139Gly)
n.608C>G
c.584C>G (p.Ala195Gly)
c.289C>G
c.395C>G (p.Ala132Gly)
19g.41414155C>TCA406008463BCKDHAc.482C>T (p.Ala161Val)
c.416C>T (p.Ala139Val)
n.608C>T
c.584C>T (p.Ala195Val)
c.289C>T
c.395C>T (p.Ala132Val)
19g.41414156A>CCA507558207BCKDHAc.483A>C (p.Ala161=)
c.417A>C (p.Ala139=)
n.609A>C
c.585A>C (p.Ala195=)
c.290A>C
c.396A>C (p.Ala132=)
19g.41414156A>GCA507558219BCKDHAc.483A>G (p.Ala161=)
c.417A>G (p.Ala139=)
n.609A>G
c.585A>G (p.Ala195=)
c.290A>G
c.396A>G (p.Ala132=)
19g.41414156A>TCA507558222BCKDHAc.483A>T (p.Ala161=)
c.417A>T (p.Ala139=)
n.609A>T
c.585A>T (p.Ala195=)
c.290A>T
c.396A>T (p.Ala132=)
19g.41414157G>ACA406008475BCKDHAc.484G>A (p.Gly162Ser)
c.418G>A (p.Gly140Ser)
n.610G>A
c.586G>A (p.Gly196Ser)
c.291G>A
c.397G>A (p.Gly133Ser)
 ClinVar dbSNP
19g.41414157G>CCA406008479BCKDHAc.484G>C (p.Gly162Arg)
c.418G>C (p.Gly140Arg)
n.610G>C
c.586G>C (p.Gly196Arg)
c.291G>C
c.397G>C (p.Gly133Arg)
19g.41414157G=CA2336455376BCKDHAc.484G= (p.Gly162=)
c.418G= (p.Gly140=)
n.610G=
c.586G= (p.Gly196=)
c.291G=
c.397G= (p.Gly133=)
19g.41414157G>TCA406008483BCKDHAc.484G>T (p.Gly162Cys)
c.418G>T (p.Gly140Cys)
n.610G>T
c.586G>T (p.Gly196Cys)
c.291G>T
c.397G>T (p.Gly133Cys)
19g.41414158G>ACA406008486BCKDHAc.484+1G>A (n.484+1G>A)
c.418+1G>A (n.418+1G>A)
n.610+1G>A
c.586+1G>A (n.586+1G>A)
c.291+1G>A
c.397+1G>A (n.397+1G>A)
 ClinVar dbSNP
19g.41414158G>CCA406008488BCKDHAc.484+1G>C (n.484+1G>C)
c.418+1G>C (n.418+1G>C)
n.610+1G>C
c.586+1G>C (n.586+1G>C)
c.291+1G>C
c.397+1G>C (n.397+1G>C)
19g.41414158G>TCA406008493BCKDHAc.484+1G>T (n.484+1G>T)
c.418+1G>T (n.418+1G>T)
n.610+1G>T
c.586+1G>T (n.586+1G>T)
c.291+1G>T
c.397+1G>T (n.397+1G>T)
19g.41414159T>ACA406008499BCKDHAc.484+2T>A (n.484+2T>A)
c.418+2T>A (n.418+2T>A)
n.610+2T>A
c.586+2T>A (n.586+2T>A)
c.291+2T>A
c.397+2T>A (n.397+2T>A)
19g.41414159T>CCA406008501BCKDHAc.484+2T>C (n.484+2T>C)
c.418+2T>C (n.418+2T>C)
n.610+2T>C
c.586+2T>C (n.586+2T>C)
c.291+2T>C
c.397+2T>C (n.397+2T>C)
 COSMIC
19g.41414159T>GCA406008506BCKDHAc.484+2T>G (n.484+2T>G)
c.418+2T>G (n.418+2T>G)
n.610+2T>G
c.586+2T>G (n.586+2T>G)
c.291+2T>G
c.397+2T>G (n.397+2T>G)
 gnomAD v4
19g.41414160_41414168delinsACGTCTGTCCA2336455377BCKDHAc.484+3_484+11delinsACGTCTGTC (n.484+3_484+11delinsACGTCTGTC)
c.418+3_418+11delinsACGTCTGTC (n.418+3_418+11delinsACGTCTGTC)
n.610+3_610+11delinsACGTCTGTC
c.586+3_586+11delinsACGTCTGTC (n.586+3_586+11delinsACGTCTGTC)
c.291+3_291+11delinsACGTCTGTC
c.397+3_397+11delinsACGTCTGTC (n.397+3_397+11delinsACGTCTGTC)
19g.41414161C=CA2336455379BCKDHAc.484+4C= (n.484+4C=)
c.418+4C= (n.418+4C=)
n.610+4C=
c.586+4C= (n.586+4C=)
c.291+4C=
c.397+4C= (n.397+4C=)
19g.41414161C>GCA2585307039BCKDHAc.484+4C>G (n.484+4C>G)
c.418+4C>G (n.418+4C>G)
n.610+4C>G
c.586+4C>G (n.586+4C>G)
c.291+4C>G
c.397+4C>G (n.397+4C>G)
 gnomAD v4
19g.41414161C>TCA308518090BCKDHAc.484+4C>T (n.484+4C>T)
c.418+4C>T (n.418+4C>T)
n.610+4C>T
c.586+4C>T (n.586+4C>T)
c.291+4C>T
c.397+4C>T (n.397+4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41414164_41414171delCA2336455378BCKDHAc.484+7_484+14del (n.484+7_484+14del)
c.418+7_418+14del (n.418+7_418+14del)
n.610+7_610+14del
c.586+7_586+14del (n.586+7_586+14del)
c.291+7_291+14del
c.397+7_397+14del (n.397+7_397+14del)
 dbSNP
19g.41414162G>ACA221202BCKDHAc.484+5G>A (n.484+5G>A)
c.418+5G>A (n.418+5G>A)
n.610+5G>A
c.586+5G>A (n.586+5G>A)
c.291+5G>A
c.397+5G>A (n.397+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41414162G>CCA633165172BCKDHAc.484+5G>C (n.484+5G>C)
c.418+5G>C (n.418+5G>C)
n.610+5G>C
c.586+5G>C (n.586+5G>C)
c.291+5G>C
c.397+5G>C (n.397+5G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41414162G=CA2336455380BCKDHAc.484+5G= (n.484+5G=)
c.418+5G= (n.418+5G=)
n.610+5G=
c.586+5G= (n.586+5G=)
c.291+5G=
c.397+5G= (n.397+5G=)
19g.41414165_41414168dupCA882343439BCKDHAc.484+8_484+11dup (n.484+8_484+11dup)
c.418+8_418+11dup (n.418+8_418+11dup)
n.610+8_610+11dup
c.586+8_586+11dup (n.586+8_586+11dup)
c.291+8_291+11dup
c.397+8_397+11dup (n.397+8_397+11dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41414163T=CA2336455381BCKDHAc.484+6T= (n.484+6T=)
c.418+6T= (n.418+6T=)
n.610+6T=
c.586+6T= (n.586+6T=)
c.291+6T=
c.397+6T= (n.397+6T=)
19g.41414164C>TCA2585307040BCKDHAc.484+7C>T (n.484+7C>T)
c.418+7C>T (n.418+7C>T)
n.610+7C>T
c.586+7C>T (n.586+7C>T)
c.291+7C>T
c.397+7C>T (n.397+7C>T)
 ClinVar gnomAD v4

Number of alleles fetched