Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.120739137_120739154dupCA1139662939ACADSc.1030-3_1044dup
c.1018-3_1032dup
ClinVar dbSNP
12g.120739140_120739141delinsGACA2067555712ACADSc.1030_1031delinsGA (p.Glu344=)
c.1018_1019delinsGA (p.Glu340=)
12g.120739141delCA16041573ACADSc.1031del (p.Glu344GlyfsTer30)
c.1019del (p.Glu340GlyfsTer30)
ClinVar dbSNP
12g.120739141A=CA2067555714ACADSc.1031A= (p.Glu344=)
c.1019A= (p.Glu340=)
12g.120739141A>CCA386601631ACADSc.1031A>C (p.Glu344Ala)
c.1019A>C (p.Glu340Ala)
12g.120739141A>GCA259859ACADSc.1031A>G (p.Glu344Gly)
c.1019A>G (p.Glu340Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.120739141A>TCA386601632ACADSc.1031A>T (p.Glu344Val)
c.1019A>T (p.Glu340Val)
12g.120739142G>ACA482146811ACADSc.1032G>A (p.Glu344=)
c.1020G>A (p.Glu340=)
12g.120739142G>CCA386601633ACADSc.1032G>C (p.Glu344Asp)
c.1020G>C (p.Glu340Asp)
gnomAD v4
12g.120739142G>TCA386601634ACADSc.1032G>T (p.Glu344Asp)
c.1020G>T (p.Glu340Asp)
12g.120739143G>ACA386601635ACADSc.1033G>A (p.Ala345Thr)
c.1021G>A (p.Ala341Thr)
12g.120739143G>CCA386601636ACADSc.1033G>C (p.Ala345Pro)
c.1021G>C (p.Ala341Pro)
12g.120739143G=CA2067555715ACADSc.1033G= (p.Ala345=)
c.1021G= (p.Ala341=)
12g.120739143G>TCA6831192ACADSc.1033G>T (p.Ala345Ser)
c.1021G>T (p.Ala341Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.120739144C>ACA386601637ACADSc.1034C>A (p.Ala345Glu)
c.1022C>A (p.Ala341Glu)
12g.120739144C=CA2067555716ACADSc.1034C= (p.Ala345=)
c.1022C= (p.Ala341=)
12g.120739144C>GCA386601638ACADSc.1034C>G (p.Ala345Gly)
c.1022C>G (p.Ala341Gly)
12g.120739144C>TCA386601639ACADSc.1034C>T (p.Ala345Val)
c.1022C>T (p.Ala341Val)
dbSNP
12g.120739145A>CCA482146814ACADSc.1035A>C (p.Ala345=)
c.1023A>C (p.Ala341=)
12g.120739145A>GCA482146815ACADSc.1035A>G (p.Ala345=)
c.1023A>G (p.Ala341=)
12g.120739145A>TCA482146816ACADSc.1035A>T (p.Ala345=)
c.1023A>T (p.Ala341=)
12g.120739146G>ACA386601640ACADSc.1036G>A (p.Ala346Thr)
c.1024G>A (p.Ala342Thr)
12g.120739146G>CCA386601641ACADSc.1036G>C (p.Ala346Pro)
c.1024G>C (p.Ala342Pro)
12g.120739146G>TCA386601642ACADSc.1036G>T (p.Ala346Ser)
c.1024G>T (p.Ala342Ser)
12g.120739147C>ACA386601645ACADSc.1037C>A (p.Ala346Asp)
c.1025C>A (p.Ala342Asp)
12g.120739147C>GCA386601644ACADSc.1037C>G (p.Ala346Gly)
c.1025C>G (p.Ala342Gly)
12g.120739147C>TCA386601643ACADSc.1037C>T (p.Ala346Val)
c.1025C>T (p.Ala342Val)
12g.120739148C>ACA482146821ACADSc.1038C>A (p.Ala346=)
c.1026C>A (p.Ala342=)
12g.120739148C>GCA482146823ACADSc.1038C>G (p.Ala346=)
c.1026C>G (p.Ala342=)
12g.120739148C>TCA482146822ACADSc.1038C>T (p.Ala346=)
c.1026C>T (p.Ala342=)
12g.120739149A=CA2067555717ACADSc.1039A= (p.Met347=)
c.1027A= (p.Met343=)
12g.120739149A>CCA386601646ACADSc.1039A>C (p.Met347Leu)
c.1027A>C (p.Met343Leu)
12g.120739149A>GCA312224ACADSc.1039A>G (p.Met347Val)
c.1027A>G (p.Met343Val)
dbSNP
12g.120739149A>TCA386601647ACADSc.1039A>T (p.Met347Leu)
c.1027A>T (p.Met343Leu)
12g.120739150T>ACA386601648ACADSc.1040T>A (p.Met347Lys)
c.1028T>A (p.Met343Lys)
12g.120739150T>CCA386601649ACADSc.1040T>C (p.Met347Thr)
c.1028T>C (p.Met343Thr)
12g.120739150T>GCA386601650ACADSc.1040T>G (p.Met347Arg)
c.1028T>G (p.Met343Arg)
12g.120739150T=CA2067555718ACADSc.1040T= (p.Met347=)
c.1028T= (p.Met343=)
12g.120739151G>ACA386601651ACADSc.1041G>A (p.Met347Ile)
c.1029G>A (p.Met343Ile)
12g.120739151G>CCA386601652ACADSc.1041G>C (p.Met347Ile)
c.1029G>C (p.Met343Ile)
12g.120739151G>TCA386601653ACADSc.1041G>T (p.Met347Ile)
c.1029G>T (p.Met343Ile)
12g.120739152dupCA684418892ACADSc.1042dup (p.Ala348GlyfsTer?)
c.1030dup (p.Ala344GlyfsTer?)
dbSNP gnomAD v3 gnomAD v4
12g.120739152G>ACA386601654ACADSc.1042G>A (p.Ala348Thr)
c.1030G>A (p.Ala344Thr)
12g.120739152G>CCA386601655ACADSc.1042G>C (p.Ala348Pro)
c.1030G>C (p.Ala344Pro)
12g.120739152G>TCA386601656ACADSc.1042G>T (p.Ala348Ser)
c.1030G>T (p.Ala344Ser)
gnomAD v4
12g.120739153C>ACA386601659ACADSc.1043C>A (p.Ala348Asp)
c.1031C>A (p.Ala344Asp)
12g.120739153C>GCA386601658ACADSc.1043C>G (p.Ala348Gly)
c.1031C>G (p.Ala344Gly)
12g.120739153C>TCA386601657ACADSc.1043C>T (p.Ala348Val)
c.1031C>T (p.Ala344Val)
12g.120739154C>ACA482146831ACADSc.1044C>A (p.Ala348=)
c.1032C>A (p.Ala344=)
12g.120739154C>GCA482146835ACADSc.1044C>G (p.Ala348=)
c.1032C>G (p.Ala344=)

Number of alleles fetched