Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120739137_120739154dup | CA1139662939 | ACADS | c.1030-3_1044dup c.1018-3_1032dup | ClinVar dbSNP |
12 | g.120739140_120739141delinsGA | CA2067555712 | ACADS | c.1030_1031delinsGA (p.Glu344=) c.1018_1019delinsGA (p.Glu340=) | |
12 | g.120739141del | CA16041573 | ACADS | c.1031del (p.Glu344GlyfsTer30) c.1019del (p.Glu340GlyfsTer30) | ClinVar dbSNP |
12 | g.120739141A= | CA2067555714 | ACADS | c.1031A= (p.Glu344=) c.1019A= (p.Glu340=) | |
12 | g.120739141A>C | CA386601631 | ACADS | c.1031A>C (p.Glu344Ala) c.1019A>C (p.Glu340Ala) | |
12 | g.120739141A>G | CA259859 | ACADS | c.1031A>G (p.Glu344Gly) c.1019A>G (p.Glu340Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.120739141A>T | CA386601632 | ACADS | c.1031A>T (p.Glu344Val) c.1019A>T (p.Glu340Val) | |
12 | g.120739142G>A | CA482146811 | ACADS | c.1032G>A (p.Glu344=) c.1020G>A (p.Glu340=) | |
12 | g.120739142G>C | CA386601633 | ACADS | c.1032G>C (p.Glu344Asp) c.1020G>C (p.Glu340Asp) | gnomAD v4 |
12 | g.120739142G>T | CA386601634 | ACADS | c.1032G>T (p.Glu344Asp) c.1020G>T (p.Glu340Asp) | |
12 | g.120739143G>A | CA386601635 | ACADS | c.1033G>A (p.Ala345Thr) c.1021G>A (p.Ala341Thr) | |
12 | g.120739143G>C | CA386601636 | ACADS | c.1033G>C (p.Ala345Pro) c.1021G>C (p.Ala341Pro) | |
12 | g.120739143G= | CA2067555715 | ACADS | c.1033G= (p.Ala345=) c.1021G= (p.Ala341=) | |
12 | g.120739143G>T | CA6831192 | ACADS | c.1033G>T (p.Ala345Ser) c.1021G>T (p.Ala341Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739144C>A | CA386601637 | ACADS | c.1034C>A (p.Ala345Glu) c.1022C>A (p.Ala341Glu) | |
12 | g.120739144C= | CA2067555716 | ACADS | c.1034C= (p.Ala345=) c.1022C= (p.Ala341=) | |
12 | g.120739144C>G | CA386601638 | ACADS | c.1034C>G (p.Ala345Gly) c.1022C>G (p.Ala341Gly) | |
12 | g.120739144C>T | CA386601639 | ACADS | c.1034C>T (p.Ala345Val) c.1022C>T (p.Ala341Val) | dbSNP |
12 | g.120739145A>C | CA482146814 | ACADS | c.1035A>C (p.Ala345=) c.1023A>C (p.Ala341=) | |
12 | g.120739145A>G | CA482146815 | ACADS | c.1035A>G (p.Ala345=) c.1023A>G (p.Ala341=) | |
12 | g.120739145A>T | CA482146816 | ACADS | c.1035A>T (p.Ala345=) c.1023A>T (p.Ala341=) | |
12 | g.120739146G>A | CA386601640 | ACADS | c.1036G>A (p.Ala346Thr) c.1024G>A (p.Ala342Thr) | |
12 | g.120739146G>C | CA386601641 | ACADS | c.1036G>C (p.Ala346Pro) c.1024G>C (p.Ala342Pro) | |
12 | g.120739146G>T | CA386601642 | ACADS | c.1036G>T (p.Ala346Ser) c.1024G>T (p.Ala342Ser) | |
12 | g.120739147C>A | CA386601645 | ACADS | c.1037C>A (p.Ala346Asp) c.1025C>A (p.Ala342Asp) | |
12 | g.120739147C>G | CA386601644 | ACADS | c.1037C>G (p.Ala346Gly) c.1025C>G (p.Ala342Gly) | |
12 | g.120739147C>T | CA386601643 | ACADS | c.1037C>T (p.Ala346Val) c.1025C>T (p.Ala342Val) | |
12 | g.120739148C>A | CA482146821 | ACADS | c.1038C>A (p.Ala346=) c.1026C>A (p.Ala342=) | |
12 | g.120739148C>G | CA482146823 | ACADS | c.1038C>G (p.Ala346=) c.1026C>G (p.Ala342=) | |
12 | g.120739148C>T | CA482146822 | ACADS | c.1038C>T (p.Ala346=) c.1026C>T (p.Ala342=) | |
12 | g.120739149A= | CA2067555717 | ACADS | c.1039A= (p.Met347=) c.1027A= (p.Met343=) | |
12 | g.120739149A>C | CA386601646 | ACADS | c.1039A>C (p.Met347Leu) c.1027A>C (p.Met343Leu) | |
12 | g.120739149A>G | CA312224 | ACADS | c.1039A>G (p.Met347Val) c.1027A>G (p.Met343Val) | dbSNP |
12 | g.120739149A>T | CA386601647 | ACADS | c.1039A>T (p.Met347Leu) c.1027A>T (p.Met343Leu) | |
12 | g.120739150T>A | CA386601648 | ACADS | c.1040T>A (p.Met347Lys) c.1028T>A (p.Met343Lys) | |
12 | g.120739150T>C | CA386601649 | ACADS | c.1040T>C (p.Met347Thr) c.1028T>C (p.Met343Thr) | |
12 | g.120739150T>G | CA386601650 | ACADS | c.1040T>G (p.Met347Arg) c.1028T>G (p.Met343Arg) | |
12 | g.120739150T= | CA2067555718 | ACADS | c.1040T= (p.Met347=) c.1028T= (p.Met343=) | |
12 | g.120739151G>A | CA386601651 | ACADS | c.1041G>A (p.Met347Ile) c.1029G>A (p.Met343Ile) | |
12 | g.120739151G>C | CA386601652 | ACADS | c.1041G>C (p.Met347Ile) c.1029G>C (p.Met343Ile) | |
12 | g.120739151G>T | CA386601653 | ACADS | c.1041G>T (p.Met347Ile) c.1029G>T (p.Met343Ile) | |
12 | g.120739152dup | CA684418892 | ACADS | c.1042dup (p.Ala348GlyfsTer?) c.1030dup (p.Ala344GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739152G>A | CA386601654 | ACADS | c.1042G>A (p.Ala348Thr) c.1030G>A (p.Ala344Thr) | |
12 | g.120739152G>C | CA386601655 | ACADS | c.1042G>C (p.Ala348Pro) c.1030G>C (p.Ala344Pro) | |
12 | g.120739152G>T | CA386601656 | ACADS | c.1042G>T (p.Ala348Ser) c.1030G>T (p.Ala344Ser) | gnomAD v4 |
12 | g.120739153C>A | CA386601659 | ACADS | c.1043C>A (p.Ala348Asp) c.1031C>A (p.Ala344Asp) | |
12 | g.120739153C>G | CA386601658 | ACADS | c.1043C>G (p.Ala348Gly) c.1031C>G (p.Ala344Gly) | |
12 | g.120739153C>T | CA386601657 | ACADS | c.1043C>T (p.Ala348Val) c.1031C>T (p.Ala344Val) | |
12 | g.120739154C>A | CA482146831 | ACADS | c.1044C>A (p.Ala348=) c.1032C>A (p.Ala344=) | |
12 | g.120739154C>G | CA482146835 | ACADS | c.1044C>G (p.Ala348=) c.1032C>G (p.Ala344=) |