| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68759648C>A | CA381625702 | CPT1A | c.2156G>T (p.Gly719Val) c.2252G>T (p.Gly751Val) | |
| 11 | g.68759648C>G | CA381625703 | CPT1A | c.2156G>C (p.Gly719Ala) c.2252G>C (p.Gly751Ala) | |
| 11 | g.68759648C>T | CA344981 | CPT1A | c.2156G>A (p.Gly719Asp) c.2252G>A (p.Gly751Asp) | dbSNP |
| 11 | g.68759649C>A | CA381625704 | CPT1A | c.2155G>T (p.Gly719Cys) c.2251G>T (p.Gly751Cys) | |
| 11 | g.68759649C>G | CA381625705 | CPT1A | c.2155G>C (p.Gly719Arg) c.2251G>C (p.Gly751Arg) | |
| 11 | g.68759649C>T | CA6152057 | CPT1A | c.2155G>A (p.Gly719Ser) c.2251G>A (p.Gly751Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759650G>A | CA6152058 | CPT1A | c.2154C>T (p.Asp718=) c.2250C>T (p.Asp750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759650G>C | CA381625706 | CPT1A | c.2154C>G (p.Asp718Glu) c.2250C>G (p.Asp750Glu) | |
| 11 | g.68759650G>T | CA381625707 | CPT1A | c.2154C>A (p.Asp718Glu) c.2250C>A (p.Asp750Glu) | |
| 11 | g.68759651T>A | CA381625708 | CPT1A | c.2153A>T (p.Asp718Val) c.2249A>T (p.Asp750Val) | |
| 11 | g.68759651T>C | CA381625709 | CPT1A | c.2153A>G (p.Asp718Gly) c.2249A>G (p.Asp750Gly) | |
| 11 | g.68759651T>G | CA381625710 | CPT1A | c.2153A>C (p.Asp718Ala) c.2249A>C (p.Asp750Ala) | |
| 11 | g.68759652C>A | CA381625711 | CPT1A | c.2152G>T (p.Asp718Tyr) c.2248G>T (p.Asp750Tyr) | |
| 11 | g.68759652C>G | CA381625712 | CPT1A | c.2152G>C (p.Asp718His) c.2248G>C (p.Asp750His) | gnomAD v4 |
| 11 | g.68759652C>T | CA381625713 | CPT1A | c.2152G>A (p.Asp718Asn) c.2248G>A (p.Asp750Asn) | |
| 11 | g.68759653A>C | CA381625714 | CPT1A | c.2151T>G (p.Asp717Glu) c.2247T>G (p.Asp749Glu) | |
| 11 | g.68759653A>G | CA475181718 | CPT1A | c.2151T>C (p.Asp717=) c.2247T>C (p.Asp749=) | gnomAD v4 |
| 11 | g.68759653A>T | CA381625715 | CPT1A | c.2151T>A (p.Asp717Glu) c.2247T>A (p.Asp749Glu) | |
| 11 | g.68759654T>A | CA381625716 | CPT1A | c.2150A>T (p.Asp717Val) c.2246A>T (p.Asp749Val) | |
| 11 | g.68759654T>C | CA381625717 | CPT1A | c.2150A>G (p.Asp717Gly) c.2246A>G (p.Asp749Gly) | |
| 11 | g.68759654T>G | CA381625718 | CPT1A | c.2150A>C (p.Asp717Ala) c.2246A>C (p.Asp749Ala) | |
| 11 | g.68759655C>A | CA381625720 | CPT1A | c.2149G>T (p.Asp717Tyr) c.2245G>T (p.Asp749Tyr) | |
| 11 | g.68759655C>G | CA381625719 | CPT1A | c.2149G>C (p.Asp717His) c.2245G>C (p.Asp749His) | |
| 11 | g.68759655C>T | CA6152059 | CPT1A | c.2149G>A (p.Asp717Asn) c.2245G>A (p.Asp749Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759656A>C | CA475181719 | CPT1A | c.2148T>G (p.Ala716=) c.2244T>G (p.Ala748=) | COSMIC COSMIC |
| 11 | g.68759656A>G | CA475181721 | CPT1A | c.2148T>C (p.Ala716=) c.2244T>C (p.Ala748=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68759656A>T | CA475181722 | CPT1A | c.2148T>A (p.Ala716=) c.2244T>A (p.Ala748=) | |
| 11 | g.68759657G>A | CA6152060 | CPT1A | c.2147C>T (p.Ala716Val) c.2243C>T (p.Ala748Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759657G>C | CA381625721 | CPT1A | c.2147C>G (p.Ala716Gly) c.2243C>G (p.Ala748Gly) | |
| 11 | g.68759657G>T | CA381625722 | CPT1A | c.2147C>A (p.Ala716Asp) c.2243C>A (p.Ala748Asp) | |
| 11 | g.68759658C>A | CA381625723 | CPT1A | c.2146G>T (p.Ala716Ser) c.2242G>T (p.Ala748Ser) | |
| 11 | g.68759658C>G | CA381625724 | CPT1A | c.2146G>C (p.Ala716Pro) c.2242G>C (p.Ala748Pro) | |
| 11 | g.68759658C>T | CA381625725 | CPT1A | c.2146G>A (p.Ala716Thr) c.2242G>A (p.Ala748Thr) | |
| 11 | g.68759659A>C | CA475181726 | CPT1A | c.2145T>G (p.Val715=) c.2241T>G (p.Val747=) | |
| 11 | g.68759659A>G | CA475181727 | CPT1A | c.2145T>C (p.Val715=) c.2241T>C (p.Val747=) | |
| 11 | g.68759659A>T | CA475181728 | CPT1A | c.2145T>A (p.Val715=) c.2241T>A (p.Val747=) | |
| 11 | g.68759660A>C | CA381625726 | CPT1A | c.2144T>G (p.Val715Gly) c.2240T>G (p.Val747Gly) | |
| 11 | g.68759660A>G | CA381625727 | CPT1A | c.2144T>C (p.Val715Ala) c.2240T>C (p.Val747Ala) | gnomAD v4 |
| 11 | g.68759660A>T | CA381625728 | CPT1A | c.2144T>A (p.Val715Asp) c.2240T>A (p.Val747Asp) | |
| 11 | g.68759661C>A | CA381625729 | CPT1A | c.2143G>T (p.Val715Phe) c.2239G>T (p.Val747Phe) | |
| 11 | g.68759661C>G | CA381625730 | CPT1A | c.2143G>C (p.Val715Leu) c.2239G>C (p.Val747Leu) | |
| 11 | g.68759661C>T | CA381625731 | CPT1A | c.2143G>A (p.Val715Ile) c.2239G>A (p.Val747Ile) | |
| 11 | g.68759662C>A | CA381625734 | CPT1A | c.2143-1G>T (n.2143-1G>T) c.2239-1G>T (n.2239-1G>T) | |
| 11 | g.68759662C>G | CA381625733 | CPT1A | c.2143-1G>C (n.2143-1G>C) c.2239-1G>C (n.2239-1G>C) | |
| 11 | g.68759662C>T | CA381625732 | CPT1A | c.2143-1G>A (n.2143-1G>A) c.2239-1G>A (n.2239-1G>A) | |
| 11 | g.68759663T>A | CA381625736 | CPT1A | c.2143-2A>T (n.2143-2A>T) c.2239-2A>T (n.2239-2A>T) | |
| 11 | g.68759663T>C | CA381625735 | CPT1A | c.2143-2A>G (n.2143-2A>G) c.2239-2A>G (n.2239-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759663T>G | CA381625737 | CPT1A | c.2143-2A>C (n.2143-2A>C) c.2239-2A>C (n.2239-2A>C) | |
| 11 | g.68759664G>A | CA2614740550 | CPT1A | c.2143-3C>T (n.2143-3C>T) c.2239-3C>T (n.2239-3C>T) | gnomAD v4 |
| 11 | g.68759665G>A | CA599985084 | CPT1A | c.2143-4C>T (n.2143-4C>T) c.2239-4C>T (n.2239-4C>T) | dbSNP gnomAD v2 gnomAD v4 |