| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68760238C>A | CA381625767 | CPT1A | c.2129G>T (p.Gly710Val) c.2225G>T (p.Gly742Val) | |
| 11 | g.68760238C>G | CA381625768 | CPT1A | c.2129G>C (p.Gly710Ala) c.2225G>C (p.Gly742Ala) | |
| 11 | g.68760238C>T | CA340863 | CPT1A | c.2129G>A (p.Gly710Glu) c.2225G>A (p.Gly742Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68760239C>A | CA381625769 | CPT1A | c.2128G>T (p.Gly710Trp) c.2224G>T (p.Gly742Trp) | |
| 11 | g.68760239C>G | CA381625770 | CPT1A | c.2128G>C (p.Gly710Arg) c.2224G>C (p.Gly742Arg) | ClinVar |
| 11 | g.68760239C>T | CA381625771 | CPT1A | c.2128G>A (p.Gly710Arg) c.2224G>A (p.Gly742Arg) | |
| 11 | g.68760240T>A | CA475181753 | CPT1A | c.2127A>T (p.Gly709=) c.2223A>T (p.Gly741=) | |
| 11 | g.68760240T>C | CA475181754 | CPT1A | c.2127A>G (p.Gly709=) c.2223A>G (p.Gly741=) | |
| 11 | g.68760240T>G | CA475181755 | CPT1A | c.2127A>C (p.Gly709=) c.2223A>C (p.Gly741=) | gnomAD v4 |
| 11 | g.68760241C>A | CA381625772 | CPT1A | c.2126G>T (p.Gly709Val) c.2222G>T (p.Gly741Val) | gnomAD v4 |
| 11 | g.68760241C>G | CA381625773 | CPT1A | c.2126G>C (p.Gly709Ala) c.2222G>C (p.Gly741Ala) | |
| 11 | g.68760241C>T | CA340860 | CPT1A | c.2126G>A (p.Gly709Glu) c.2222G>A (p.Gly741Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760242C>A | CA381625774 | CPT1A | c.2125G>T (p.Gly709Ter) c.2221G>T (p.Gly741Ter) | |
| 11 | g.68760242C>G | CA6152093 | CPT1A | c.2125G>C (p.Gly709Arg) c.2221G>C (p.Gly741Arg) | dbSNP ExAC gnomAD v2 |
| 11 | g.68760242C>T | CA223365908 | CPT1A | c.2125G>A (p.Gly709Arg) c.2221G>A (p.Gly741Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68760243G>A | CA6152094 | CPT1A | c.2124C>T (p.Ser708=) c.2220C>T (p.Ser740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760243G>C | CA381625776 | CPT1A | c.2124C>G (p.Ser708Arg) c.2220C>G (p.Ser740Arg) | |
| 11 | g.68760243G>T | CA381625775 | CPT1A | c.2124C>A (p.Ser708Arg) c.2220C>A (p.Ser740Arg) | ClinVar dbSNP |
| 11 | g.68760244C>A | CA381625777 | CPT1A | c.2123G>T (p.Ser708Ile) c.2219G>T (p.Ser740Ile) | |
| 11 | g.68760244C>G | CA381625778 | CPT1A | c.2123G>C (p.Ser708Thr) c.2219G>C (p.Ser740Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760244C>T | CA381625779 | CPT1A | c.2123G>A (p.Ser708Asn) c.2219G>A (p.Ser740Asn) | |
| 11 | g.68760245T>A | CA381625780 | CPT1A | c.2122A>T (p.Ser708Cys) c.2218A>T (p.Ser740Cys) | |
| 11 | g.68760245T>C | CA381625781 | CPT1A | c.2122A>G (p.Ser708Gly) c.2218A>G (p.Ser740Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760245T>G | CA381625782 | CPT1A | c.2122A>C (p.Ser708Arg) c.2218A>C (p.Ser740Arg) | dbSNP |
| 11 | g.68760246G>A | CA475181757 | CPT1A | c.2121C>T (p.Ser707=) c.2217C>T (p.Ser739=) | |
| 11 | g.68760246G>C | CA475181758 | CPT1A | c.2121C>G (p.Ser707=) c.2217C>G (p.Ser739=) | |
| 11 | g.68760246G>T | CA475181759 | CPT1A | c.2121C>A (p.Ser707=) c.2217C>A (p.Ser739=) | |
| 11 | g.68760247G>A | CA381625783 | CPT1A | c.2120C>T (p.Ser707Phe) c.2216C>T (p.Ser739Phe) | |
| 11 | g.68760247G>C | CA381625784 | CPT1A | c.2120C>G (p.Ser707Cys) c.2216C>G (p.Ser739Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68760247G>T | CA381625785 | CPT1A | c.2120C>A (p.Ser707Tyr) c.2216C>A (p.Ser739Tyr) | gnomAD v4 |
| 11 | g.68760248A>C | CA381625787 | CPT1A | c.2119T>G (p.Ser707Ala) c.2215T>G (p.Ser739Ala) | |
| 11 | g.68760248A>G | CA6152095 | CPT1A | c.2119T>C (p.Ser707Pro) c.2215T>C (p.Ser739Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760248A>T | CA381625786 | CPT1A | c.2119T>A (p.Ser707Thr) c.2215T>A (p.Ser739Thr) | |
| 11 | g.68760249C>A | CA475181763 | CPT1A | c.2118G>T (p.Val706=) c.2214G>T (p.Val738=) | |
| 11 | g.68760249C>G | CA475181762 | CPT1A | c.2118G>C (p.Val706=) c.2214G>C (p.Val738=) | |
| 11 | g.68760249C>T | CA475181761 | CPT1A | c.2118G>A (p.Val706=) c.2214G>A (p.Val738=) | |
| 11 | g.68760250A>C | CA381625788 | CPT1A | c.2117T>G (p.Val706Gly) c.2213T>G (p.Val738Gly) | |
| 11 | g.68760250A>G | CA381625789 | CPT1A | c.2117T>C (p.Val706Ala) c.2213T>C (p.Val738Ala) | |
| 11 | g.68760250A>T | CA381625790 | CPT1A | c.2117T>A (p.Val706Glu) c.2213T>A (p.Val738Glu) | dbSNP gnomAD v4 |
| 11 | g.68760251C>A | CA381625791 | CPT1A | c.2116G>T (p.Val706Leu) c.2212G>T (p.Val738Leu) | |
| 11 | g.68760251C>G | CA381625792 | CPT1A | c.2116G>C (p.Val706Leu) c.2212G>C (p.Val738Leu) | gnomAD v4 |
| 11 | g.68760251C>T | CA6152096 | CPT1A | c.2116G>A (p.Val706Met) c.2212G>A (p.Val738Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760252G>A | CA6152097 | CPT1A | c.2115C>T (p.Tyr705=) c.2211C>T (p.Tyr737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760252G>C | CA381625793 | CPT1A | c.2115C>G (p.Tyr705Ter) c.2211C>G (p.Tyr737Ter) | |
| 11 | g.68760252G>T | CA381625794 | CPT1A | c.2115C>A (p.Tyr705Ter) c.2211C>A (p.Tyr737Ter) | |
| 11 | g.68760253T>A | CA381625795 | CPT1A | c.2114A>T (p.Tyr705Phe) c.2210A>T (p.Tyr737Phe) | |
| 11 | g.68760253T>C | CA381625796 | CPT1A | c.2114A>G (p.Tyr705Cys) c.2210A>G (p.Tyr737Cys) | |
| 11 | g.68760253T>G | CA381625797 | CPT1A | c.2114A>C (p.Tyr705Ser) c.2210A>C (p.Tyr737Ser) | |
| 11 | g.68760254A>C | CA381625799 | CPT1A | c.2113T>G (p.Tyr705Asp) c.2209T>G (p.Tyr737Asp) | |
| 11 | g.68760254A>G | CA381625800 | CPT1A | c.2113T>C (p.Tyr705His) c.2209T>C (p.Tyr737His) | gnomAD v4 |