| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68760202_68760205dup | CA599985386 | CPT1A | c.2142+21_2142+24dup (n.2142+21_2142+24dup) c.2238+21_2238+24dup (n.2238+21_2238+24dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760202T>A | CA2574903072 | CPT1A | c.2142+23A>T (n.2142+23A>T) c.2238+23A>T (n.2238+23A>T) | |
| 11 | g.68760202T>C | CA2524561698 | CPT1A | c.2142+23A>G (n.2142+23A>G) c.2238+23A>G (n.2238+23A>G) | gnomAD v4 |
| 11 | g.68760203C>T | CA6152081 | CPT1A | c.2142+22G>A (n.2142+22G>A) c.2238+22G>A (n.2238+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760204G>A | CA6152082 | CPT1A | c.2142+21C>T (n.2142+21C>T) c.2238+21C>T (n.2238+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760204G>T | CA939165048 | CPT1A | c.2142+21C>A (n.2142+21C>A) c.2238+21C>A (n.2238+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68760205C>T | CA2614741264 | CPT1A | c.2142+20G>A (n.2142+20G>A) c.2238+20G>A (n.2238+20G>A) | gnomAD v4 |
| 11 | g.68760206C>G | CA2574903073 | CPT1A | c.2142+19G>C (n.2142+19G>C) c.2238+19G>C (n.2238+19G>C) | |
| 11 | g.68760206C>T | CA654280339 | CPT1A | c.2142+19G>A (n.2142+19G>A) c.2238+19G>A (n.2238+19G>A) | ClinVar gnomAD v4 COSMIC |
| 11 | g.68760207C>A | CA2614741274 | CPT1A | c.2142+18G>T (n.2142+18G>T) c.2238+18G>T (n.2238+18G>T) | gnomAD v4 |
| 11 | g.68760207C>G | CA2614741276 | CPT1A | c.2142+18G>C (n.2142+18G>C) c.2238+18G>C (n.2238+18G>C) | gnomAD v4 |
| 11 | g.68760207C>T | CA2614741271 | CPT1A | c.2142+18G>A (n.2142+18G>A) c.2238+18G>A (n.2238+18G>A) | gnomAD v4 |
| 11 | g.68760209G>T | CA2614741278 | CPT1A | c.2142+16C>A (n.2142+16C>A) c.2238+16C>A (n.2238+16C>A) | gnomAD v4 |
| 11 | g.68760210C>T | CA2614741279 | CPT1A | c.2142+15G>A (n.2142+15G>A) c.2238+15G>A (n.2238+15G>A) | gnomAD v4 |
| 11 | g.68760212C>G | CA599985391 | CPT1A | c.2142+13G>C (n.2142+13G>C) c.2238+13G>C (n.2238+13G>C) | dbSNP gnomAD v2 |
| 11 | g.68760212C>T | CA2614741281 | CPT1A | c.2142+13G>A (n.2142+13G>A) c.2238+13G>A (n.2238+13G>A) | gnomAD v4 |
| 11 | g.68760213C>A | CA2614741287 | CPT1A | c.2142+12G>T (n.2142+12G>T) c.2238+12G>T (n.2238+12G>T) | gnomAD v4 |
| 11 | g.68760213C>G | CA599985392 | CPT1A | c.2142+12G>C (n.2142+12G>C) c.2238+12G>C (n.2238+12G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760213C>T | CA6152083 | CPT1A | c.2142+12G>A (n.2142+12G>A) c.2238+12G>A (n.2238+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760214G>A | CA599985396 | CPT1A | c.2142+11C>T (n.2142+11C>T) c.2238+11C>T (n.2238+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760214G>T | CA2614741303 | CPT1A | c.2142+11C>A (n.2142+11C>A) c.2238+11C>A (n.2238+11C>A) | gnomAD v4 |
| 11 | g.68760215C>A | CA2614741305 | CPT1A | c.2142+10G>T (n.2142+10G>T) c.2238+10G>T (n.2238+10G>T) | gnomAD v4 |
| 11 | g.68760216C>T | CA6152084 | CPT1A | c.2142+9G>A (n.2142+9G>A) c.2238+9G>A (n.2238+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760217G>A | CA6152085 | CPT1A | c.2142+8C>T (n.2142+8C>T) c.2238+8C>T (n.2238+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760217G>T | CA2499221268 | CPT1A | c.2142+8C>A (n.2142+8C>A) c.2238+8C>A (n.2238+8C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760218C>T | CA599985401 | CPT1A | c.2142+7G>A (n.2142+7G>A) c.2238+7G>A (n.2238+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760219A>G | CA6152086 | CPT1A | c.2142+6T>C (n.2142+6T>C) c.2238+6T>C (n.2238+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760222C>A | CA2614741328 | CPT1A | c.2142+3G>T (n.2142+3G>T) c.2238+3G>T (n.2238+3G>T) | gnomAD v4 |
| 11 | g.68760222C>T | CA6152087 | CPT1A | c.2142+3G>A (n.2142+3G>A) c.2238+3G>A (n.2238+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760223A>C | CA381625738 | CPT1A | c.2142+2T>G (n.2142+2T>G) c.2238+2T>G (n.2238+2T>G) | |
| 11 | g.68760223A>G | CA381625739 | CPT1A | c.2142+2T>C (n.2142+2T>C) c.2238+2T>C (n.2238+2T>C) | ClinVar |
| 11 | g.68760223A>T | CA381625740 | CPT1A | c.2142+2T>A (n.2142+2T>A) c.2238+2T>A (n.2238+2T>A) | |
| 11 | g.68760224C>A | CA381625743 | CPT1A | c.2142+1G>T (n.2142+1G>T) c.2238+1G>T (n.2238+1G>T) | |
| 11 | g.68760224C>G | CA381625741 | CPT1A | c.2142+1G>C (n.2142+1G>C) c.2238+1G>C (n.2238+1G>C) | |
| 11 | g.68760224C>T | CA381625742 | CPT1A | c.2142+1G>A (n.2142+1G>A) c.2238+1G>A (n.2238+1G>A) | gnomAD v4 |
| 11 | g.68760225C>A | CA475181741 | CPT1A | c.2142G>T (p.Pro714=) c.2238G>T (p.Pro746=) | gnomAD v4 |
| 11 | g.68760225C>G | CA6152089 | CPT1A | c.2142G>C (p.Pro714=) c.2238G>C (p.Pro746=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760225C>T | CA6152088 | CPT1A | c.2142G>A (p.Pro714=) c.2238G>A (p.Pro746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760226G>A | CA6152090 | CPT1A | c.2141C>T (p.Pro714Leu) c.2237C>T (p.Pro746Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760226G>C | CA381625744 | CPT1A | c.2141C>G (p.Pro714Arg) c.2237C>G (p.Pro746Arg) | |
| 11 | g.68760226G>T | CA381625745 | CPT1A | c.2141C>A (p.Pro714Gln) c.2237C>A (p.Pro746Gln) | |
| 11 | g.68760227G>A | CA381625746 | CPT1A | c.2140C>T (p.Pro714Ser) c.2236C>T (p.Pro746Ser) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68760227G>C | CA381625748 | CPT1A | c.2140C>G (p.Pro714Ala) c.2236C>G (p.Pro746Ala) | |
| 11 | g.68760227G>T | CA381625747 | CPT1A | c.2140C>A (p.Pro714Thr) c.2236C>A (p.Pro746Thr) | |
| 11 | g.68760228T>A | CA475181744 | CPT1A | c.2139A>T (p.Gly713=) c.2235A>T (p.Gly745=) | |
| 11 | g.68760228T>C | CA475181743 | CPT1A | c.2139A>G (p.Gly713=) c.2235A>G (p.Gly745=) | |
| 11 | g.68760228T>G | CA475181742 | CPT1A | c.2139A>C (p.Gly713=) c.2235A>C (p.Gly745=) | |
| 11 | g.68760229C>A | CA381625749 | CPT1A | c.2138G>T (p.Gly713Val) c.2234G>T (p.Gly745Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760229C>G | CA381625750 | CPT1A | c.2138G>C (p.Gly713Ala) c.2234G>C (p.Gly745Ala) | |
| 11 | g.68760229C>T | CA381625751 | CPT1A | c.2138G>A (p.Gly713Glu) c.2234G>A (p.Gly745Glu) | |
| 11 | g.68760230C>A | CA381625752 | CPT1A | c.2137G>T (p.Gly713Ter) c.2233G>T (p.Gly745Ter) | |
| 11 | g.68760230C>G | CA381625753 | CPT1A | c.2137G>C (p.Gly713Arg) c.2233G>C (p.Gly745Arg) | |
| 11 | g.68760230C>T | CA381625754 | CPT1A | c.2137G>A (p.Gly713Arg) c.2233G>A (p.Gly745Arg) | |
| 11 | g.68760231A>C | CA381625755 | CPT1A | c.2136T>G (p.Phe712Leu) c.2232T>G (p.Phe744Leu) | |
| 11 | g.68760231A>G | CA475181745 | CPT1A | c.2136T>C (p.Phe712=) c.2232T>C (p.Phe744=) | gnomAD v4 |
| 11 | g.68760231A>T | CA381625756 | CPT1A | c.2136T>A (p.Phe712Leu) c.2232T>A (p.Phe744Leu) | |
| 11 | g.68760233del | CA2497319449 | CPT1A | c.2136del (p.Phe712LeufsTer?) c.2232del (p.Phe744LeufsTer?) | ClinVar dbSNP |
| 11 | g.68760232A>C | CA381625757 | CPT1A | c.2135T>G (p.Phe712Cys) c.2231T>G (p.Phe744Cys) | |
| 11 | g.68760232A>G | CA381625758 | CPT1A | c.2135T>C (p.Phe712Ser) c.2231T>C (p.Phe744Ser) | |
| 11 | g.68760232A>T | CA381625759 | CPT1A | c.2135T>A (p.Phe712Tyr) c.2231T>A (p.Phe744Tyr) | |
| 11 | g.68760233A>C | CA381625760 | CPT1A | c.2134T>G (p.Phe712Val) c.2230T>G (p.Phe744Val) | |
| 11 | g.68760233A>G | CA381625762 | CPT1A | c.2134T>C (p.Phe712Leu) c.2230T>C (p.Phe744Leu) | |
| 11 | g.68760233A>T | CA381625761 | CPT1A | c.2134T>A (p.Phe712Ile) c.2230T>A (p.Phe744Ile) | |
| 11 | g.68760234G>A | CA475181746 | CPT1A | c.2133C>T (p.Gly711=) c.2229C>T (p.Gly743=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68760234G>C | CA475181747 | CPT1A | c.2133C>G (p.Gly711=) c.2229C>G (p.Gly743=) | |
| 11 | g.68760234G>T | CA475181748 | CPT1A | c.2133C>A (p.Gly711=) c.2229C>A (p.Gly743=) | |
| 11 | g.68760235C>A | CA6152091 | CPT1A | c.2132G>T (p.Gly711Val) c.2228G>T (p.Gly743Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760235C>G | CA6152092 | CPT1A | c.2132G>C (p.Gly711Ala) c.2228G>C (p.Gly743Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760235C>T | CA381625763 | CPT1A | c.2132G>A (p.Gly711Asp) c.2228G>A (p.Gly743Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760236C>A | CA381625764 | CPT1A | c.2131G>T (p.Gly711Cys) c.2227G>T (p.Gly743Cys) | |
| 11 | g.68760236C>G | CA381625766 | CPT1A | c.2131G>C (p.Gly711Arg) c.2227G>C (p.Gly743Arg) | |
| 11 | g.68760236C>T | CA381625765 | CPT1A | c.2131G>A (p.Gly711Ser) c.2227G>A (p.Gly743Ser) | gnomAD v4 |
| 11 | g.68760237C>A | CA475181750 | CPT1A | c.2130G>T (p.Gly710=) c.2226G>T (p.Gly742=) | dbSNP |
| 11 | g.68760237C>G | CA475181751 | CPT1A | c.2130G>C (p.Gly710=) c.2226G>C (p.Gly742=) | gnomAD v4 |
| 11 | g.68760237C>T | CA475181752 | CPT1A | c.2130G>A (p.Gly710=) c.2226G>A (p.Gly742=) | ClinVar dbSNP |
| 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) | ClinVar 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 |
| 11 | g.68760254A>T | CA381625798 | CPT1A | c.2113T>A (p.Tyr705Asn) c.2209T>A (p.Tyr737Asn) | |
| 11 | g.68760255C>A | CA381625801 | CPT1A | c.2112G>T (p.Glu704Asp) c.2208G>T (p.Glu736Asp) | |
| 11 | g.68760255C>G | CA381625802 | CPT1A | c.2112G>C (p.Glu704Asp) c.2208G>C (p.Glu736Asp) | |
| 11 | g.68760255C>T | CA223365921 | CPT1A | c.2112G>A (p.Glu704=) c.2208G>A (p.Glu736=) | dbSNP gnomAD v4 |
| 11 | g.68760256T>A | CA381625803 | CPT1A | c.2111A>T (p.Glu704Val) c.2207A>T (p.Glu736Val) | |
| 11 | g.68760256T>C | CA381625804 | CPT1A | c.2111A>G (p.Glu704Gly) c.2207A>G (p.Glu736Gly) | |
| 11 | g.68760256T>G | CA381625805 | CPT1A | c.2111A>C (p.Glu704Ala) c.2207A>C (p.Glu736Ala) | |
| 11 | g.68760257C>A | CA381625808 | CPT1A | c.2110G>T (p.Glu704Ter) c.2206G>T (p.Glu736Ter) | |
| 11 | g.68760257C>G | CA381625806 | CPT1A | c.2110G>C (p.Glu704Gln) c.2206G>C (p.Glu736Gln) | |
| 11 | g.68760257C>T | CA381625807 | CPT1A | c.2110G>A (p.Glu704Lys) c.2206G>A (p.Glu736Lys) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68760258T>A | CA475181764 | CPT1A | c.2109A>T (p.Pro703=) c.2205A>T (p.Pro735=) | |
| 11 | g.68760258T>C | CA475181765 | CPT1A | c.2109A>G (p.Pro703=) c.2205A>G (p.Pro735=) | |
| 11 | g.68760258T>G | CA475181766 | CPT1A | c.2109A>C (p.Pro703=) c.2205A>C (p.Pro735=) | |
| 11 | g.68760259G>A | CA6152098 | CPT1A | c.2108C>T (p.Pro703Leu) c.2204C>T (p.Pro735Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760259G>C | CA381625809 | CPT1A | c.2108C>G (p.Pro703Arg) c.2204C>G (p.Pro735Arg) | |
| 11 | g.68760259G>T | CA381625810 | CPT1A | c.2108C>A (p.Pro703Gln) c.2204C>A (p.Pro735Gln) | |
| 11 | g.68760260G>A | CA381625811 | CPT1A | c.2107C>T (p.Pro703Ser) c.2203C>T (p.Pro735Ser) | |
| 11 | g.68760260G>C | CA381625812 | CPT1A | c.2107C>G (p.Pro703Ala) c.2203C>G (p.Pro735Ala) | gnomAD v4 |
| 11 | g.68760260G>T | CA381625813 | CPT1A | c.2107C>A (p.Pro703Thr) c.2203C>A (p.Pro735Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760261_68760273del | CA658761303 | CPT1A | c.2095_2107del (p.Leu699GlnfsTer?) c.2191_2203del (p.Leu731GlnfsTer?) | |
| 11 | g.68760261G>A | CA475181767 | CPT1A | c.2106C>T (p.Asn702=) c.2202C>T (p.Asn734=) | |
| 11 | g.68760261G>C | CA381625814 | CPT1A | c.2106C>G (p.Asn702Lys) c.2202C>G (p.Asn734Lys) | |
| 11 | g.68760261G>T | CA381625815 | CPT1A | c.2106C>A (p.Asn702Lys) c.2202C>A (p.Asn734Lys) | gnomAD v4 |
| 11 | g.68760262T>A | CA381625816 | CPT1A | c.2105A>T (p.Asn702Ile) c.2201A>T (p.Asn734Ile) | |
| 11 | g.68760262T>C | CA381625818 | CPT1A | c.2105A>G (p.Asn702Ser) c.2201A>G (p.Asn734Ser) | |
| 11 | g.68760262T>G | CA381625817 | CPT1A | c.2105A>C (p.Asn702Thr) c.2201A>C (p.Asn734Thr) | |
| 11 | g.68760263T>A | CA381625819 | CPT1A | c.2104A>T (p.Asn702Tyr) c.2200A>T (p.Asn734Tyr) | |
| 11 | g.68760263T>C | CA381625820 | CPT1A | c.2104A>G (p.Asn702Asp) c.2200A>G (p.Asn734Asp) | |
| 11 | g.68760263T>G | CA381625821 | CPT1A | c.2104A>C (p.Asn702His) c.2200A>C (p.Asn734His) | |
| 11 | g.68760264A>C | CA381625822 | CPT1A | c.2103T>G (p.Asn701Lys) c.2199T>G (p.Asn733Lys) | |
| 11 | g.68760264A>G | CA475181768 | CPT1A | c.2103T>C (p.Asn701=) c.2199T>C (p.Asn733=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.68760264A>T | CA381625823 | CPT1A | c.2103T>A (p.Asn701Lys) c.2199T>A (p.Asn733Lys) | |
| 11 | g.68760265T>A | CA381625824 | CPT1A | c.2102A>T (p.Asn701Ile) c.2198A>T (p.Asn733Ile) | |
| 11 | g.68760265T>C | CA381625825 | CPT1A | c.2102A>G (p.Asn701Ser) c.2198A>G (p.Asn733Ser) | |
| 11 | g.68760265T>G | CA381625826 | CPT1A | c.2102A>C (p.Asn701Thr) c.2198A>C (p.Asn733Thr) | |
| 11 | g.68760266T>A | CA381625827 | CPT1A | c.2101A>T (p.Asn701Tyr) c.2197A>T (p.Asn733Tyr) | |
| 11 | g.68760266T>C | CA381625828 | CPT1A | c.2101A>G (p.Asn701Asp) c.2197A>G (p.Asn733Asp) | |
| 11 | g.68760266T>G | CA381625829 | CPT1A | c.2101A>C (p.Asn701His) c.2197A>C (p.Asn733His) | |
| 11 | g.68760267C>A | CA381625831 | CPT1A | c.2100G>T (p.Glu700Asp) c.2196G>T (p.Glu732Asp) | |
| 11 | g.68760267C>G | CA381625830 | CPT1A | c.2100G>C (p.Glu700Asp) c.2196G>C (p.Glu732Asp) | |
| 11 | g.68760267C>T | CA6152099 | CPT1A | c.2100G>A (p.Glu700=) c.2196G>A (p.Glu732=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760268T>A | CA381625832 | CPT1A | c.2099A>T (p.Glu700Val) c.2195A>T (p.Glu732Val) | |
| 11 | g.68760268T>C | CA381625833 | CPT1A | c.2099A>G (p.Glu700Gly) c.2195A>G (p.Glu732Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68760268T>G | CA381625834 | CPT1A | c.2099A>C (p.Glu700Ala) c.2195A>C (p.Glu732Ala) | |
| 11 | g.68760269C>A | CA381625835 | CPT1A | c.2098G>T (p.Glu700Ter) c.2194G>T (p.Glu732Ter) | gnomAD v4 |
| 11 | g.68760269C>G | CA381625836 | CPT1A | c.2098G>C (p.Glu700Gln) c.2194G>C (p.Glu732Gln) | |
| 11 | g.68760269C>T | CA381625837 | CPT1A | c.2098G>A (p.Glu700Lys) c.2194G>A (p.Glu732Lys) | dbSNP |
| 11 | g.68760270C>A | CA381625838 | CPT1A | c.2097G>T (p.Leu699Phe) c.2193G>T (p.Leu731Phe) | |
| 11 | g.68760270C>G | CA381625839 | CPT1A | c.2097G>C (p.Leu699Phe) c.2193G>C (p.Leu731Phe) | |
| 11 | g.68760270C>T | CA475181769 | CPT1A | c.2097G>A (p.Leu699=) c.2193G>A (p.Leu731=) | |
| 11 | g.68760271A>C | CA381625840 | CPT1A | c.2096T>G (p.Leu699Trp) c.2192T>G (p.Leu731Trp) | |
| 11 | g.68760271A>G | CA381625841 | CPT1A | c.2096T>C (p.Leu699Ser) c.2192T>C (p.Leu731Ser) | gnomAD v4 |
| 11 | g.68760271A>T | CA381625842 | CPT1A | c.2096T>A (p.Leu699Ter) c.2192T>A (p.Leu731Ter) | |
| 11 | g.68760272A>C | CA381625843 | CPT1A | c.2095T>G (p.Leu699Val) c.2191T>G (p.Leu731Val) | |
| 11 | g.68760272A>G | CA475181770 | CPT1A | c.2095T>C (p.Leu699=) c.2191T>C (p.Leu731=) | |
| 11 | g.68760272A>T | CA381625844 | CPT1A | c.2095T>A (p.Leu699Met) c.2191T>A (p.Leu731Met) | |
| 11 | g.68760273G>A | CA475181771 | CPT1A | c.2094C>T (p.Asp698=) c.2190C>T (p.Asp730=) | |
| 11 | g.68760273G>C | CA381625845 | CPT1A | c.2094C>G (p.Asp698Glu) c.2190C>G (p.Asp730Glu) | |
| 11 | g.68760273G>T | CA381625846 | CPT1A | c.2094C>A (p.Asp698Glu) c.2190C>A (p.Asp730Glu) | |
| 11 | g.68760274T>A | CA381625847 | CPT1A | c.2093A>T (p.Asp698Val) c.2189A>T (p.Asp730Val) | |
| 11 | g.68760274T>C | CA381625848 | CPT1A | c.2093A>G (p.Asp698Gly) c.2189A>G (p.Asp730Gly) | |
| 11 | g.68760274T>G | CA381625849 | CPT1A | c.2093A>C (p.Asp698Ala) c.2189A>C (p.Asp730Ala) | |
| 11 | g.68760275C>A | CA381625850 | CPT1A | c.2092G>T (p.Asp698Tyr) c.2188G>T (p.Asp730Tyr) | |
| 11 | g.68760275C>G | CA381625851 | CPT1A | c.2092G>C (p.Asp698His) c.2188G>C (p.Asp730His) | COSMIC COSMIC |
| 11 | g.68760275C>T | CA381625852 | CPT1A | c.2092G>A (p.Asp698Asn) c.2188G>A (p.Asp730Asn) | dbSNP |
| 11 | g.68760276A>C | CA381625854 | CPT1A | c.2091T>G (p.Phe697Leu) c.2187T>G (p.Phe729Leu) | |
| 11 | g.68760276A>G | CA475181772 | CPT1A | c.2091T>C (p.Phe697=) c.2187T>C (p.Phe729=) | |
| 11 | g.68760276A>T | CA381625853 | CPT1A | c.2091T>A (p.Phe697Leu) c.2187T>A (p.Phe729Leu) | |
| 11 | g.68760277A>C | CA381625855 | CPT1A | c.2090T>G (p.Phe697Cys) c.2186T>G (p.Phe729Cys) | |
| 11 | g.68760277A>G | CA381625856 | CPT1A | c.2090T>C (p.Phe697Ser) c.2186T>C (p.Phe729Ser) | ClinVar dbSNP |
| 11 | g.68760277A>T | CA381625857 | CPT1A | c.2090T>A (p.Phe697Tyr) c.2186T>A (p.Phe729Tyr) | |
| 11 | g.68760278A>C | CA381625858 | CPT1A | c.2089T>G (p.Phe697Val) c.2185T>G (p.Phe729Val) | |
| 11 | g.68760278A>G | CA381625859 | CPT1A | c.2089T>C (p.Phe697Leu) c.2185T>C (p.Phe729Leu) | |
| 11 | g.68760278A>T | CA381625860 | CPT1A | c.2089T>A (p.Phe697Ile) c.2185T>A (p.Phe729Ile) | |
| 11 | g.68760279C>A | CA475181775 | CPT1A | c.2088G>T (p.Leu696=) c.2184G>T (p.Leu728=) | |
| 11 | g.68760279C>G | CA475181774 | CPT1A | c.2088G>C (p.Leu696=) c.2184G>C (p.Leu728=) | ClinVar dbSNP |
| 11 | g.68760279C>T | CA475181773 | CPT1A | c.2088G>A (p.Leu696=) c.2184G>A (p.Leu728=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760280A>C | CA381625861 | CPT1A | c.2087T>G (p.Leu696Arg) c.2183T>G (p.Leu728Arg) | |
| 11 | g.68760280A>G | CA381625863 | CPT1A | c.2087T>C (p.Leu696Pro) c.2183T>C (p.Leu728Pro) | |
| 11 | g.68760280A>T | CA381625862 | CPT1A | c.2087T>A (p.Leu696Gln) c.2183T>A (p.Leu728Gln) | |
| 11 | g.68760281G>A | CA6152100 | CPT1A | c.2086C>T (p.Leu696=) c.2182C>T (p.Leu728=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760281G>C | CA381625864 | CPT1A | c.2086C>G (p.Leu696Val) c.2182C>G (p.Leu728Val) | |
| 11 | g.68760281G>T | CA381625865 | CPT1A | c.2086C>A (p.Leu696Met) c.2182C>A (p.Leu728Met) | |
| 11 | g.68760282C>A | CA381625866 | CPT1A | c.2085G>T (p.Glu695Asp) c.2181G>T (p.Glu727Asp) | |
| 11 | g.68760282C>G | CA381625867 | CPT1A | c.2085G>C (p.Glu695Asp) c.2181G>C (p.Glu727Asp) | |
| 11 | g.68760282C>T | CA475181777 | CPT1A | c.2085G>A (p.Glu695=) c.2181G>A (p.Glu727=) | |
| 11 | g.68760283T>A | CA381625868 | CPT1A | c.2084A>T (p.Glu695Val) c.2180A>T (p.Glu727Val) | |
| 11 | g.68760283T>C | CA381625869 | CPT1A | c.2084A>G (p.Glu695Gly) c.2180A>G (p.Glu727Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760283T>G | CA381625870 | CPT1A | c.2084A>C (p.Glu695Ala) c.2180A>C (p.Glu727Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760283_68760284insGTATGAGTTCATCCATACTAAAAATCTCTTCGTCATTCCCTGGATTCCATCCTAAAAGTGCTAAGAAATTAATGAGCGCTTCAGGAAAATAGCCTTCA | CA2502222658 | CPT1A | c.2083_2084insTGAAGGCTATTTTCCTGAAGCGCTCATTAATTTCTTAGCACTTTTAGGATGGAATCCAGGGAATGACGAAGAGATTTTTAGTATGGATGAACTCATAC (p.Glu695ValfsTer13) c.2179_2180insTGAAGGCTATTTTCCTGAAGCGCTCATTAATTTCTTAGCACTTTTAGGATGGAATCCAGGGAATGACGAAGAGATTTTTAGTATGGATGAACTCATAC (p.Glu727ValfsTer13) | |
| 11 | g.68760283_68760284insGTATAAGTTCATCCATACTAAAAATCTCTTCGTCATTCCCTGGATTCCATCCTAAAAGTGCTAAGAAATTAATAAGAGCCTCAGGAAAATAGCCTTCA | CA2572880265 | CPT1A | c.2083_2084insTGAAGGCTATTTTCCTGAGGCTCTTATTAATTTCTTAGCACTTTTAGGATGGAATCCAGGGAATGACGAAGAGATTTTTAGTATGGATGAACTTATAC (p.Glu695ValfsTer13) c.2179_2180insTGAAGGCTATTTTCCTGAGGCTCTTATTAATTTCTTAGCACTTTTAGGATGGAATCCAGGGAATGACGAAGAGATTTTTAGTATGGATGAACTTATAC (p.Glu727ValfsTer13) | |
| 11 | g.68760284C>A | CA381625871 | CPT1A | c.2083G>T (p.Glu695Ter) c.2179G>T (p.Glu727Ter) | |
| 11 | g.68760284C>G | CA6152101 | CPT1A | c.2083G>C (p.Glu695Gln) c.2179G>C (p.Glu727Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760284C>T | CA381625872 | CPT1A | c.2083G>A (p.Glu695Lys) c.2179G>A (p.Glu727Lys) | |
| 11 | g.68760285C>A | CA475181782 | CPT1A | c.2082G>T (p.Val694=) c.2178G>T (p.Val726=) | |
| 11 | g.68760285C>G | CA475181784 | CPT1A | c.2082G>C (p.Val694=) c.2178G>C (p.Val726=) | |
| 11 | g.68760285C>T | CA475181785 | CPT1A | c.2082G>A (p.Val694=) c.2178G>A (p.Val726=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760286A>C | CA381625873 | CPT1A | c.2081T>G (p.Val694Gly) c.2177T>G (p.Val726Gly) | |
| 11 | g.68760286A>G | CA381625875 | CPT1A | c.2081T>C (p.Val694Ala) c.2177T>C (p.Val726Ala) | |
| 11 | g.68760286A>T | CA381625874 | CPT1A | c.2081T>A (p.Val694Glu) c.2177T>A (p.Val726Glu) | |
| 11 | g.68760287C>A | CA381625876 | CPT1A | c.2080G>T (p.Val694Leu) c.2176G>T (p.Val726Leu) | |
| 11 | g.68760287C>G | CA381625878 | CPT1A | c.2080G>C (p.Val694Leu) c.2176G>C (p.Val726Leu) | |
| 11 | g.68760287C>T | CA381625877 | CPT1A | c.2080G>A (p.Val694Met) c.2176G>A (p.Val726Met) | |
| 11 | g.68760288T>A | CA381625879 | CPT1A | c.2079A>T (p.Gln693His) c.2175A>T (p.Gln725His) | |
| 11 | g.68760288T>C | CA475181786 | CPT1A | c.2079A>G (p.Gln693=) c.2175A>G (p.Gln725=) | |
| 11 | g.68760288T>G | CA381625880 | CPT1A | c.2079A>C (p.Gln693His) c.2175A>C (p.Gln725His) | |
| 11 | g.68760289T>A | CA381625881 | CPT1A | c.2078A>T (p.Gln693Leu) c.2174A>T (p.Gln725Leu) | |
| 11 | g.68760289T>C | CA381625882 | CPT1A | c.2078A>G (p.Gln693Arg) c.2174A>G (p.Gln725Arg) | |
| 11 | g.68760289T>G | CA381625883 | CPT1A | c.2078A>C (p.Gln693Pro) c.2174A>C (p.Gln725Pro) | |
| 11 | g.68760290G>A | CA381625884 | CPT1A | c.2077C>T (p.Gln693Ter) c.2173C>T (p.Gln725Ter) | |
| 11 | g.68760290G>C | CA381625885 | CPT1A | c.2077C>G (p.Gln693Glu) c.2173C>G (p.Gln725Glu) | |
| 11 | g.68760290G>T | CA381625886 | CPT1A | c.2077C>A (p.Gln693Lys) c.2173C>A (p.Gln725Lys) | |
| 11 | g.68760291C>A | CA381625887 | CPT1A | c.2076G>T (p.Gln692His) c.2172G>T (p.Gln724His) | |
| 11 | g.68760291C>G | CA381625888 | CPT1A | c.2076G>C (p.Gln692His) c.2172G>C (p.Gln724His) | |
| 11 | g.68760291C>T | CA475181787 | CPT1A | c.2076G>A (p.Gln692=) c.2172G>A (p.Gln724=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760292T>A | CA381625889 | CPT1A | c.2075A>T (p.Gln692Leu) c.2171A>T (p.Gln724Leu) | |
| 11 | g.68760292T>C | CA381625890 | CPT1A | c.2075A>G (p.Gln692Arg) c.2171A>G (p.Gln724Arg) | |
| 11 | g.68760292T>G | CA381625892 | CPT1A | c.2075A>C (p.Gln692Pro) c.2171A>C (p.Gln724Pro) | |
| 11 | g.68760293G>A | CA381625895 | CPT1A | c.2074C>T (p.Gln692Ter) c.2170C>T (p.Gln724Ter) | |
| 11 | g.68760293G>C | CA381625893 | CPT1A | c.2074C>G (p.Gln692Glu) c.2170C>G (p.Gln724Glu) | |
| 11 | g.68760293G>T | CA381625894 | CPT1A | c.2074C>A (p.Gln692Lys) c.2170C>A (p.Gln724Lys) | COSMIC COSMIC |
| 11 | g.68760294C>A | CA381625896 | CPT1A | c.2073G>T (p.Gln691His) c.2169G>T (p.Gln723His) | |
| 11 | g.68760294C>G | CA381625897 | CPT1A | c.2073G>C (p.Gln691His) c.2169G>C (p.Gln723His) | |
| 11 | g.68760294C>T | CA475181791 | CPT1A | c.2073G>A (p.Gln691=) c.2169G>A (p.Gln723=) | |
| 11 | g.68760295T>A | CA381625898 | CPT1A | c.2072A>T (p.Gln691Leu) c.2168A>T (p.Gln723Leu) | |
| 11 | g.68760295T>C | CA381625899 | CPT1A | c.2072A>G (p.Gln691Arg) c.2168A>G (p.Gln723Arg) | |
| 11 | g.68760295T>G | CA381625900 | CPT1A | c.2072A>C (p.Gln691Pro) c.2168A>C (p.Gln723Pro) | |
| 11 | g.68760296G>A | CA6152102 | CPT1A | c.2071C>T (p.Gln691Ter) c.2167C>T (p.Gln723Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.68760296G>C | CA381625901 | CPT1A | c.2071C>G (p.Gln691Glu) c.2167C>G (p.Gln723Glu) | gnomAD v4 |
| 11 | g.68760296G>T | CA381625902 | CPT1A | c.2071C>A (p.Gln691Lys) c.2167C>A (p.Gln723Lys) | |
| 11 | g.68760297A>C | CA475181795 | CPT1A | c.2070T>G (p.Pro690=) c.2166T>G (p.Pro722=) | |
| 11 | g.68760297A>G | CA475181797 | CPT1A | c.2070T>C (p.Pro690=) c.2166T>C (p.Pro722=) | |
| 11 | g.68760297A>T | CA475181796 | CPT1A | c.2070T>A (p.Pro690=) c.2166T>A (p.Pro722=) | |
| 11 | g.68760298G>A | CA381626108 | CPT1A | c.2069C>T (p.Pro690Leu) c.2165C>T (p.Pro722Leu) | |
| 11 | g.68760298G>C | CA381626109 | CPT1A | c.2069C>G (p.Pro690Arg) c.2165C>G (p.Pro722Arg) | |
| 11 | g.68760298G>T | CA381626110 | CPT1A | c.2069C>A (p.Pro690His) c.2165C>A (p.Pro722His) | |
| 11 | g.68760299G>A | CA381626112 | CPT1A | c.2068C>T (p.Pro690Ser) c.2164C>T (p.Pro722Ser) | |
| 11 | g.68760299G>C | CA381626113 | CPT1A | c.2068C>G (p.Pro690Ala) c.2164C>G (p.Pro722Ala) | |
| 11 | g.68760299G>T | CA381626111 | CPT1A | c.2068C>A (p.Pro690Thr) c.2164C>A (p.Pro722Thr) | |
| 11 | g.68760300G>A | CA6152103 | CPT1A | c.2067C>T (p.Thr689=) c.2163C>T (p.Thr721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760300G>C | CA475181834 | CPT1A | c.2067C>G (p.Thr689=) c.2163C>G (p.Thr721=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68760300G>T | CA475181835 | CPT1A | c.2067C>A (p.Thr689=) c.2163C>A (p.Thr721=) | dbSNP gnomAD v2 |
| 11 | g.68760301G>A | CA381626114 | CPT1A | c.2066C>T (p.Thr689Ile) c.2162C>T (p.Thr721Ile) | |
| 11 | g.68760301G>C | CA381626115 | CPT1A | c.2066C>G (p.Thr689Ser) c.2162C>G (p.Thr721Ser) | |
| 11 | g.68760301G>T | CA381626116 | CPT1A | c.2066C>A (p.Thr689Asn) c.2162C>A (p.Thr721Asn) | gnomAD v4 |
| 11 | g.68760302T>A | CA381626117 | CPT1A | c.2065A>T (p.Thr689Ser) c.2161A>T (p.Thr721Ser) | |
| 11 | g.68760302T>C | CA381626118 | CPT1A | c.2065A>G (p.Thr689Ala) c.2161A>G (p.Thr721Ala) | dbSNP |
| 11 | g.68760302T>G | CA381626119 | CPT1A | c.2065A>C (p.Thr689Pro) c.2161A>C (p.Thr721Pro) |