UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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) | |
| 11 | g.68760303C>A | CA381626120 | CPT1A | c.2064G>T (p.Gln688His) c.2160G>T (p.Gln720His) | |
| 11 | g.68760303C>G | CA381626121 | CPT1A | c.2064G>C (p.Gln688His) c.2160G>C (p.Gln720His) | gnomAD v4 |
| 11 | g.68760303C>T | CA475181839 | CPT1A | c.2064G>A (p.Gln688=) c.2160G>A (p.Gln720=) | |
| 11 | g.68760304T>A | CA381626122 | CPT1A | c.2063A>T (p.Gln688Leu) c.2159A>T (p.Gln720Leu) | |
| 11 | g.68760304T>C | CA381626123 | CPT1A | c.2063A>G (p.Gln688Arg) c.2159A>G (p.Gln720Arg) | |
| 11 | g.68760304T>G | CA381626124 | CPT1A | c.2063A>C (p.Gln688Pro) c.2159A>C (p.Gln720Pro) | |
| 11 | g.68760305G>A | CA381626126 | CPT1A | c.2062C>T (p.Gln688Ter) c.2158C>T (p.Gln720Ter) | ClinVar gnomAD v4 |
| 11 | g.68760305G>C | CA381626127 | CPT1A | c.2062C>G (p.Gln688Glu) c.2158C>G (p.Gln720Glu) | |
| 11 | g.68760305G>T | CA381626125 | CPT1A | c.2062C>A (p.Gln688Lys) c.2158C>A (p.Gln720Lys) | |
| 11 | g.68760306G>A | CA475181840 | CPT1A | c.2061C>T (p.Ser687=) c.2157C>T (p.Ser719=) | ClinVar dbSNP |
| 11 | g.68760306G>C | CA381626128 | CPT1A | c.2061C>G (p.Ser687Arg) c.2157C>G (p.Ser719Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760306G>T | CA381626129 | CPT1A | c.2061C>A (p.Ser687Arg) c.2157C>A (p.Ser719Arg) | |
| 11 | g.68760307C>A | CA381626130 | CPT1A | c.2060G>T (p.Ser687Ile) c.2156G>T (p.Ser719Ile) | |
| 11 | g.68760307C>G | CA381626131 | CPT1A | c.2060G>C (p.Ser687Thr) c.2156G>C (p.Ser719Thr) | |
| 11 | g.68760307C>T | CA381626132 | CPT1A | c.2060G>A (p.Ser687Asn) c.2156G>A (p.Ser719Asn) | |
| 11 | g.68760308T>A | CA381626135 | CPT1A | c.2059A>T (p.Ser687Cys) c.2155A>T (p.Ser719Cys) | dbSNP gnomAD v4 |
| 11 | g.68760308T>C | CA381626133 | CPT1A | c.2059A>G (p.Ser687Gly) c.2155A>G (p.Ser719Gly) | |
| 11 | g.68760308T>G | CA381626134 | CPT1A | c.2059A>C (p.Ser687Arg) c.2155A>C (p.Ser719Arg) | |
| 11 | g.68760309T>A | CA475181841 | CPT1A | c.2058A>T (p.Thr686=) c.2154A>T (p.Thr718=) | |
| 11 | g.68760309T>C | CA475181842 | CPT1A | c.2058A>G (p.Thr686=) c.2154A>G (p.Thr718=) | dbSNP |
| 11 | g.68760309T>G | CA475181843 | CPT1A | c.2058A>C (p.Thr686=) c.2154A>C (p.Thr718=) | |
| 11 | g.68760310G>A | CA381626136 | CPT1A | c.2057C>T (p.Thr686Ile) c.2153C>T (p.Thr718Ile) | COSMIC COSMIC |
| 11 | g.68760310G>C | CA381626137 | CPT1A | c.2057C>G (p.Thr686Arg) c.2153C>G (p.Thr718Arg) | |
| 11 | g.68760310G>T | CA381626138 | CPT1A | c.2057C>A (p.Thr686Lys) c.2153C>A (p.Thr718Lys) | |
| 11 | g.68760311T>A | CA381626139 | CPT1A | c.2056A>T (p.Thr686Ser) c.2152A>T (p.Thr718Ser) | |
| 11 | g.68760311T>C | CA381626140 | CPT1A | c.2056A>G (p.Thr686Ala) c.2152A>G (p.Thr718Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760311T>G | CA381626141 | CPT1A | c.2056A>C (p.Thr686Pro) c.2152A>C (p.Thr718Pro) | |
| 11 | g.68760312dup | CA2574903074 | CPT1A | c.2056dup (p.Thr686AsnfsTer13) c.2152dup (p.Thr718AsnfsTer13) | |
| 11 | g.68760312T>A | CA475181845 | CPT1A | c.2055A>T (p.Ser685=) c.2151A>T (p.Ser717=) | |
| 11 | g.68760312T>C | CA475181846 | CPT1A | c.2055A>G (p.Ser685=) c.2151A>G (p.Ser717=) | |
| 11 | g.68760312T>G | CA475181847 | CPT1A | c.2055A>C (p.Ser685=) c.2151A>C (p.Ser717=) | |
| 11 | g.68760313G>A | CA381626144 | CPT1A | c.2054C>T (p.Ser685Leu) c.2150C>T (p.Ser717Leu) | |
| 11 | g.68760313G>C | CA381626143 | CPT1A | c.2054C>G (p.Ser685Ter) c.2150C>G (p.Ser717Ter) | |
| 11 | g.68760313G>T | CA381626142 | CPT1A | c.2054C>A (p.Ser685Ter) c.2150C>A (p.Ser717Ter) | |
| 11 | g.68760314A>C | CA381626146 | CPT1A | c.2053T>G (p.Ser685Ala) c.2149T>G (p.Ser717Ala) | |
| 11 | g.68760314A>G | CA381626145 | CPT1A | c.2053T>C (p.Ser685Pro) c.2149T>C (p.Ser717Pro) | dbSNP |
| 11 | g.68760314A>T | CA381626147 | CPT1A | c.2053T>A (p.Ser685Thr) c.2149T>A (p.Ser717Thr) | |
| 11 | g.68760315T>A | CA381626148 | CPT1A | c.2052A>T (p.Leu684Phe) c.2148A>T (p.Leu716Phe) | |
| 11 | g.68760315T>C | CA475181854 | CPT1A | c.2052A>G (p.Leu684=) c.2148A>G (p.Leu716=) | |
| 11 | g.68760315T>G | CA381626149 | CPT1A | c.2052A>C (p.Leu684Phe) c.2148A>C (p.Leu716Phe) | |
| 11 | g.68760316A>C | CA381626150 | CPT1A | c.2051T>G (p.Leu684Ter) c.2147T>G (p.Leu716Ter) | |
| 11 | g.68760316A>G | CA381626151 | CPT1A | c.2051T>C (p.Leu684Ser) c.2147T>C (p.Leu716Ser) | |
| 11 | g.68760316A>T | CA381626152 | CPT1A | c.2051T>A (p.Leu684Ter) c.2147T>A (p.Leu716Ter) | gnomAD v4 |
| 11 | g.68760316_68760317del | CA2739270618 | CPT1A | c.2050_2051del (p.Leu684IlefsTer14) c.2146_2147del (p.Leu716IlefsTer14) | ClinVar |
| 11 | g.68760317A>C | CA381626153 | CPT1A | c.2050T>G (p.Leu684Val) c.2146T>G (p.Leu716Val) | |
| 11 | g.68760317A>G | CA475181859 | CPT1A | c.2050T>C (p.Leu684=) c.2146T>C (p.Leu716=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68760317A>T | CA381626154 | CPT1A | c.2050T>A (p.Leu684Ile) c.2146T>A (p.Leu716Ile) | dbSNP |
| 11 | g.68760318T>A | CA6152104 | CPT1A | c.2049A>T (p.Arg683Ser) c.2145A>T (p.Arg715Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68760318T>C | CA223365927 | CPT1A | c.2049A>G (p.Arg683=) c.2145A>G (p.Arg715=) | ClinVar dbSNP |
| 11 | g.68760318T>G | CA381626155 | CPT1A | c.2049A>C (p.Arg683Ser) c.2145A>C (p.Arg715Ser) | |
| 11 | g.68760319C>A | CA381626156 | CPT1A | c.2048G>T (p.Arg683Ile) c.2144G>T (p.Arg715Ile) | gnomAD v4 |
| 11 | g.68760319C>G | CA381626157 | CPT1A | c.2048G>C (p.Arg683Thr) c.2144G>C (p.Arg715Thr) | gnomAD v4 |
| 11 | g.68760319C>T | CA381626158 | CPT1A | c.2048G>A (p.Arg683Lys) c.2144G>A (p.Arg715Lys) | |
| 11 | g.68760320T>A | CA381626160 | CPT1A | c.2047A>T (p.Arg683Ter) c.2143A>T (p.Arg715Ter) | ClinVar |
| 11 | g.68760320T>C | CA381626159 | CPT1A | c.2047A>G (p.Arg683Gly) c.2143A>G (p.Arg715Gly) | |
| 11 | g.68760320T>G | CA475181862 | CPT1A | c.2047A>C (p.Arg683=) c.2143A>C (p.Arg715=) | |
| 11 | g.68760321C>A | CA381626161 | CPT1A | c.2046G>T (p.Trp682Cys) c.2142G>T (p.Trp714Cys) | |
| 11 | g.68760321C>G | CA381626162 | CPT1A | c.2046G>C (p.Trp682Cys) c.2142G>C (p.Trp714Cys) | |
| 11 | g.68760321C>T | CA381626163 | CPT1A | c.2046G>A (p.Trp682Ter) c.2142G>A (p.Trp714Ter) | gnomAD v4 |
| 11 | g.68760322C>A | CA381626164 | CPT1A | c.2045G>T (p.Trp682Leu) c.2141G>T (p.Trp714Leu) | |
| 11 | g.68760322C>G | CA381626166 | CPT1A | c.2045G>C (p.Trp682Ser) c.2141G>C (p.Trp714Ser) | |
| 11 | g.68760322C>T | CA381626168 | CPT1A | c.2045G>A (p.Trp682Ter) c.2141G>A (p.Trp714Ter) | gnomAD v4 |
| 11 | g.68760323A>C | CA381626171 | CPT1A | c.2044T>G (p.Trp682Gly) c.2140T>G (p.Trp714Gly) | gnomAD v4 |
| 11 | g.68760323A>G | CA381626173 | CPT1A | c.2044T>C (p.Trp682Arg) c.2140T>C (p.Trp714Arg) | |
| 11 | g.68760323A>T | CA381626174 | CPT1A | c.2044T>A (p.Trp682Arg) c.2140T>A (p.Trp714Arg) | |
| 11 | g.68760324A>C | CA475181869 | CPT1A | c.2043T>G (p.Pro681=) c.2139T>G (p.Pro713=) | |
| 11 | g.68760324A>G | CA475181871 | CPT1A | c.2043T>C (p.Pro681=) c.2139T>C (p.Pro713=) | |
| 11 | g.68760324A>T | CA475181870 | CPT1A | c.2043T>A (p.Pro681=) c.2139T>A (p.Pro713=) | |
| 11 | g.68760325G>A | CA381626177 | CPT1A | c.2042C>T (p.Pro681Leu) c.2138C>T (p.Pro713Leu) | |
| 11 | g.68760325G>C | CA381626179 | CPT1A | c.2042C>G (p.Pro681Arg) c.2138C>G (p.Pro713Arg) | |
| 11 | g.68760325G>T | CA381626182 | CPT1A | c.2042C>A (p.Pro681His) c.2138C>A (p.Pro713His) | |
| 11 | g.68760326G>A | CA381626187 | CPT1A | c.2041C>T (p.Pro681Ser) c.2137C>T (p.Pro713Ser) | |
| 11 | g.68760326G>C | CA381626190 | CPT1A | c.2041C>G (p.Pro681Ala) c.2137C>G (p.Pro713Ala) | |
| 11 | g.68760326G>T | CA381626185 | CPT1A | c.2041C>A (p.Pro681Thr) c.2137C>A (p.Pro713Thr) | |
| 11 | g.68760327C>A | CA381626192 | CPT1A | c.2040G>T (p.Glu680Asp) c.2136G>T (p.Glu712Asp) | |
| 11 | g.68760327C>G | CA381626194 | CPT1A | c.2040G>C (p.Glu680Asp) c.2136G>C (p.Glu712Asp) | |
| 11 | g.68760327C>T | CA475181878 | CPT1A | c.2040G>A (p.Glu680=) c.2136G>A (p.Glu712=) | COSMIC COSMIC |
| 11 | g.68760328T>A | CA381626197 | CPT1A | c.2039A>T (p.Glu680Val) c.2135A>T (p.Glu712Val) | |
| 11 | g.68760328T>C | CA381626199 | CPT1A | c.2039A>G (p.Glu680Gly) c.2135A>G (p.Glu712Gly) | |
| 11 | g.68760328T>G | CA381626201 | CPT1A | c.2039A>C (p.Glu680Ala) c.2135A>C (p.Glu712Ala) | |
| 11 | g.68760329C>A | CA223365929 | CPT1A | c.2038G>T (p.Glu680Ter) c.2134G>T (p.Glu712Ter) | dbSNP gnomAD v4 |
| 11 | g.68760329C>G | CA381626205 | CPT1A | c.2038G>C (p.Glu680Gln) c.2134G>C (p.Glu712Gln) | |
| 11 | g.68760329C>T | CA381626207 | CPT1A | c.2038G>A (p.Glu680Lys) c.2134G>A (p.Glu712Lys) | gnomAD v4 |
| 11 | g.68760330A>C | CA475181881 | CPT1A | c.2037T>G (p.Ser679=) c.2133T>G (p.Ser711=) | dbSNP gnomAD v4 |
| 11 | g.68760330A>G | CA475181882 | CPT1A | c.2037T>C (p.Ser679=) c.2133T>C (p.Ser711=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68760330A>T | CA475181884 | CPT1A | c.2037T>A (p.Ser679=) c.2133T>A (p.Ser711=) | |
| 11 | g.68760331G>A | CA6152105 | CPT1A | c.2036C>T (p.Ser679Phe) c.2132C>T (p.Ser711Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68760331G>C | CA381626210 | CPT1A | c.2036C>G (p.Ser679Cys) c.2132C>G (p.Ser711Cys) | |
| 11 | g.68760331G>T | CA381626212 | CPT1A | c.2036C>A (p.Ser679Tyr) c.2132C>A (p.Ser711Tyr) | |
| 11 | g.68760332A>C | CA381626215 | CPT1A | c.2035T>G (p.Ser679Ala) c.2131T>G (p.Ser711Ala) | |
| 11 | g.68760332A>G | CA381626219 | CPT1A | c.2035T>C (p.Ser679Pro) c.2131T>C (p.Ser711Pro) | |
| 11 | g.68760332A>T | CA381626221 | CPT1A | c.2035T>A (p.Ser679Thr) c.2131T>A (p.Ser711Thr) | |
| 11 | g.68760333T>A | CA381626224 | CPT1A | c.2034A>T (p.Leu678Phe) c.2130A>T (p.Leu710Phe) | |
| 11 | g.68760333T>C | CA475181890 | CPT1A | c.2034A>G (p.Leu678=) c.2130A>G (p.Leu710=) | |
| 11 | g.68760333T>G | CA381626225 | CPT1A | c.2034A>C (p.Leu678Phe) c.2130A>C (p.Leu710Phe) | |
| 11 | g.68760334A>C | CA381626228 | CPT1A | c.2033T>G (p.Leu678Ter) c.2129T>G (p.Leu710Ter) | |
| 11 | g.68760334A>G | CA381626230 | CPT1A | c.2033T>C (p.Leu678Ser) c.2129T>C (p.Leu710Ser) | gnomAD v4 |
| 11 | g.68760334A>T | CA381626232 | CPT1A | c.2033T>A (p.Leu678Ter) c.2129T>A (p.Leu710Ter) | gnomAD v4 |
| 11 | g.68760335A>C | CA381626234 | CPT1A | c.2032T>G (p.Leu678Val) c.2128T>G (p.Leu710Val) | |
| 11 | g.68760335A>G | CA475181898 | CPT1A | c.2032T>C (p.Leu678=) c.2128T>C (p.Leu710=) | |
| 11 | g.68760335A>T | CA381626236 | CPT1A | c.2032T>A (p.Leu678Ile) c.2128T>A (p.Leu710Ile) | |
| 11 | g.68760336A>C | CA475181901 | CPT1A | c.2031T>G (p.Val677=) c.2127T>G (p.Val709=) | |
| 11 | g.68760336A>G | CA475181902 | CPT1A | c.2031T>C (p.Val677=) c.2127T>C (p.Val709=) | |
| 11 | g.68760336A>T | CA475181903 | CPT1A | c.2031T>A (p.Val677=) c.2127T>A (p.Val709=) | ClinVar dbSNP |
| 11 | g.68760337A>C | CA381626238 | CPT1A | c.2030T>G (p.Val677Gly) c.2126T>G (p.Val709Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68760337A>G | CA381626241 | CPT1A | c.2030T>C (p.Val677Ala) c.2126T>C (p.Val709Ala) | |
| 11 | g.68760337A>T | CA381626243 | CPT1A | c.2030T>A (p.Val677Asp) c.2126T>A (p.Val709Asp) | |
| 11 | g.68760338C>A | CA381626245 | CPT1A | c.2029G>T (p.Val677Phe) c.2125G>T (p.Val709Phe) | |
| 11 | g.68760338C>G | CA381626252 | CPT1A | c.2029G>C (p.Val677Leu) c.2125G>C (p.Val709Leu) | |
| 11 | g.68760338C>T | CA381626253 | CPT1A | c.2029G>A (p.Val677Ile) c.2125G>A (p.Val709Ile) | gnomAD v4 |
| 11 | g.68760339C>A | CA381626254 | CPT1A | c.2029-1G>T (n.2029-1G>T) c.2125-1G>T (n.2125-1G>T) | |
| 11 | g.68760339C>G | CA381626255 | CPT1A | c.2029-1G>C (n.2029-1G>C) c.2125-1G>C (n.2125-1G>C) | ClinVar |
| 11 | g.68760339C>T | CA381626256 | CPT1A | c.2029-1G>A (n.2029-1G>A) c.2125-1G>A (n.2125-1G>A) | dbSNP |