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.68759577_68759608del | CA645575722 | CPT1A | c.2197_2228del (p.Asn733Ter) c.2293_2324del (p.Asn765Ter) | COSMIC |
| 11 | g.68759577G>A | CA381625390 | CPT1A | c.2227C>T (p.Pro743Ser) c.2323C>T (p.Pro775Ser) | |
| 11 | g.68759577G>C | CA381625386 | CPT1A | c.2227C>G (p.Pro743Ala) c.2323C>G (p.Pro775Ala) | |
| 11 | g.68759577G>T | CA6152043 | CPT1A | c.2227C>A (p.Pro743Thr) c.2323C>A (p.Pro775Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759578G>A | CA475181617 | CPT1A | c.2226C>T (p.Cys742=) c.2322C>T (p.Cys774=) | |
| 11 | g.68759578G>C | CA381625391 | CPT1A | c.2226C>G (p.Cys742Trp) c.2322C>G (p.Cys774Trp) | |
| 11 | g.68759578G>T | CA223365650 | CPT1A | c.2226C>A (p.Cys742Ter) c.2322C>A (p.Cys774Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759579C>A | CA381625395 | CPT1A | c.2225G>T (p.Cys742Phe) c.2321G>T (p.Cys774Phe) | dbSNP |
| 11 | g.68759579C>G | CA381625398 | CPT1A | c.2225G>C (p.Cys742Ser) c.2321G>C (p.Cys774Ser) | |
| 11 | g.68759579C>T | CA381625400 | CPT1A | c.2225G>A (p.Cys742Tyr) c.2321G>A (p.Cys774Tyr) | |
| 11 | g.68759580A>C | CA381625403 | CPT1A | c.2224T>G (p.Cys742Gly) c.2320T>G (p.Cys774Gly) | |
| 11 | g.68759580A>G | CA381625405 | CPT1A | c.2224T>C (p.Cys742Arg) c.2320T>C (p.Cys774Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759580A>T | CA381625406 | CPT1A | c.2224T>A (p.Cys742Ser) c.2320T>A (p.Cys774Ser) | |
| 11 | g.68759581A>C | CA475181618 | CPT1A | c.2223T>G (p.Ser741=) c.2319T>G (p.Ser773=) | |
| 11 | g.68759581A>G | CA223365653 | CPT1A | c.2223T>C (p.Ser741=) c.2319T>C (p.Ser773=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759581A>T | CA475181619 | CPT1A | c.2223T>A (p.Ser741=) c.2319T>A (p.Ser773=) | |
| 11 | g.68759582G>A | CA381625410 | CPT1A | c.2222C>T (p.Ser741Phe) c.2318C>T (p.Ser773Phe) | gnomAD v4 |
| 11 | g.68759582G>C | CA381625411 | CPT1A | c.2222C>G (p.Ser741Cys) c.2318C>G (p.Ser773Cys) | |
| 11 | g.68759582G>T | CA381625414 | CPT1A | c.2222C>A (p.Ser741Tyr) c.2318C>A (p.Ser773Tyr) | |
| 11 | g.68759583A>C | CA381625422 | CPT1A | c.2221T>G (p.Ser741Ala) c.2317T>G (p.Ser773Ala) | |
| 11 | g.68759583A>G | CA381625419 | CPT1A | c.2221T>C (p.Ser741Pro) c.2317T>C (p.Ser773Pro) | |
| 11 | g.68759583A>T | CA381625417 | CPT1A | c.2221T>A (p.Ser741Thr) c.2317T>A (p.Ser773Thr) | |
| 11 | g.68759584G>A | CA475181620 | CPT1A | c.2220C>T (p.Phe740=) c.2316C>T (p.Phe772=) | |
| 11 | g.68759584G>C | CA381625424 | CPT1A | c.2220C>G (p.Phe740Leu) c.2316C>G (p.Phe772Leu) | |
| 11 | g.68759584G>T | CA381625426 | CPT1A | c.2220C>A (p.Phe740Leu) c.2316C>A (p.Phe772Leu) | dbSNP |
| 11 | g.68759585A>C | CA381625430 | CPT1A | c.2219T>G (p.Phe740Cys) c.2315T>G (p.Phe772Cys) | |
| 11 | g.68759585A>G | CA381625432 | CPT1A | c.2219T>C (p.Phe740Ser) c.2315T>C (p.Phe772Ser) | COSMIC COSMIC |
| 11 | g.68759585A>T | CA381625434 | CPT1A | c.2219T>A (p.Phe740Tyr) c.2315T>A (p.Phe772Tyr) | |
| 11 | g.68759586A>C | CA381625437 | CPT1A | c.2218T>G (p.Phe740Val) c.2314T>G (p.Phe772Val) | |
| 11 | g.68759586A>G | CA381625439 | CPT1A | c.2218T>C (p.Phe740Leu) c.2314T>C (p.Phe772Leu) | |
| 11 | g.68759586A>T | CA381625441 | CPT1A | c.2218T>A (p.Phe740Ile) c.2314T>A (p.Phe772Ile) | |
| 11 | g.68759587C>A | CA381625444 | CPT1A | c.2217G>T (p.Lys739Asn) c.2313G>T (p.Lys771Asn) | |
| 11 | g.68759587C>G | CA381625446 | CPT1A | c.2217G>C (p.Lys739Asn) c.2313G>C (p.Lys771Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759587C>T | CA475181621 | CPT1A | c.2217G>A (p.Lys739=) c.2313G>A (p.Lys771=) | |
| 11 | g.68759588T>A | CA381625448 | CPT1A | c.2216A>T (p.Lys739Met) c.2312A>T (p.Lys771Met) | |
| 11 | g.68759588T>C | CA381625450 | CPT1A | c.2216A>G (p.Lys739Arg) c.2312A>G (p.Lys771Arg) | |
| 11 | g.68759588T>G | CA381625453 | CPT1A | c.2216A>C (p.Lys739Thr) c.2312A>C (p.Lys771Thr) | gnomAD v4 |
| 11 | g.68759589T>A | CA381625459 | CPT1A | c.2215A>T (p.Lys739Ter) c.2311A>T (p.Lys771Ter) | |
| 11 | g.68759589T>C | CA6152044 | CPT1A | c.2215A>G (p.Lys739Glu) c.2311A>G (p.Lys771Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759589T>G | CA381625457 | CPT1A | c.2215A>C (p.Lys739Gln) c.2311A>C (p.Lys771Gln) | dbSNP gnomAD v2 |
| 11 | g.68759590G>A | CA475181622 | CPT1A | c.2214C>T (p.Ser738=) c.2310C>T (p.Ser770=) | |
| 11 | g.68759590G>C | CA475181624 | CPT1A | c.2214C>G (p.Ser738=) c.2310C>G (p.Ser770=) | gnomAD v4 |
| 11 | g.68759590G>T | CA475181623 | CPT1A | c.2214C>A (p.Ser738=) c.2310C>A (p.Ser770=) | |
| 11 | g.68759591G>A | CA381625462 | CPT1A | c.2213C>T (p.Ser738Phe) c.2309C>T (p.Ser770Phe) | |
| 11 | g.68759591G>C | CA381625464 | CPT1A | c.2213C>G (p.Ser738Cys) c.2309C>G (p.Ser770Cys) | |
| 11 | g.68759591G>T | CA381625466 | CPT1A | c.2213C>A (p.Ser738Tyr) c.2309C>A (p.Ser770Tyr) | |
| 11 | g.68759592A>C | CA381625468 | CPT1A | c.2212T>G (p.Ser738Ala) c.2308T>G (p.Ser770Ala) | |
| 11 | g.68759592A>G | CA381625470 | CPT1A | c.2212T>C (p.Ser738Pro) c.2308T>C (p.Ser770Pro) | |
| 11 | g.68759592A>T | CA381625473 | CPT1A | c.2212T>A (p.Ser738Thr) c.2308T>A (p.Ser770Thr) | |
| 11 | g.68759593A>C | CA475181625 | CPT1A | c.2211T>G (p.Ser737=) c.2307T>G (p.Ser769=) | |
| 11 | g.68759593A>G | CA475181626 | CPT1A | c.2211T>C (p.Ser737=) c.2307T>C (p.Ser769=) | gnomAD v4 |
| 11 | g.68759593A>T | CA475181627 | CPT1A | c.2211T>A (p.Ser737=) c.2307T>A (p.Ser769=) | |
| 11 | g.68759594G>A | CA381625476 | CPT1A | c.2210C>T (p.Ser737Phe) c.2306C>T (p.Ser769Phe) | |
| 11 | g.68759594G>C | CA381625478 | CPT1A | c.2210C>G (p.Ser737Cys) c.2306C>G (p.Ser769Cys) | |
| 11 | g.68759594G>T | CA381625480 | CPT1A | c.2210C>A (p.Ser737Tyr) c.2306C>A (p.Ser769Tyr) | |
| 11 | g.68759595A>C | CA381625483 | CPT1A | c.2209T>G (p.Ser737Ala) c.2305T>G (p.Ser769Ala) | |
| 11 | g.68759595A>G | CA381625486 | CPT1A | c.2209T>C (p.Ser737Pro) c.2305T>C (p.Ser769Pro) | |
| 11 | g.68759595A>T | CA381625488 | CPT1A | c.2209T>A (p.Ser737Thr) c.2305T>A (p.Ser769Thr) | |
| 11 | g.68759596A>C | CA381625491 | CPT1A | c.2208T>G (p.Ile736Met) c.2304T>G (p.Ile768Met) | |
| 11 | g.68759596A>G | CA475181628 | CPT1A | c.2208T>C (p.Ile736=) c.2304T>C (p.Ile768=) | |
| 11 | g.68759596A>T | CA475181629 | CPT1A | c.2208T>A (p.Ile736=) c.2304T>A (p.Ile768=) | |
| 11 | g.68759597A>C | CA381625492 | CPT1A | c.2207T>G (p.Ile736Ser) c.2303T>G (p.Ile768Ser) | |
| 11 | g.68759597A>G | CA381625493 | CPT1A | c.2207T>C (p.Ile736Thr) c.2303T>C (p.Ile768Thr) | |
| 11 | g.68759597A>T | CA223365659 | CPT1A | c.2207T>A (p.Ile736Asn) c.2303T>A (p.Ile768Asn) | dbSNP |
| 11 | g.68759598T>A | CA381625499 | CPT1A | c.2206A>T (p.Ile736Phe) c.2302A>T (p.Ile768Phe) | |
| 11 | g.68759598T>C | CA6152045 | CPT1A | c.2206A>G (p.Ile736Val) c.2302A>G (p.Ile768Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759598T>G | CA381625497 | CPT1A | c.2206A>C (p.Ile736Leu) c.2302A>C (p.Ile768Leu) | |
| 11 | g.68759599G>A | CA475181630 | CPT1A | c.2205C>T (p.His735=) c.2301C>T (p.His767=) | ClinVar dbSNP |
| 11 | g.68759599G>C | CA381625502 | CPT1A | c.2205C>G (p.His735Gln) c.2301C>G (p.His767Gln) | |
| 11 | g.68759599G>T | CA381625504 | CPT1A | c.2205C>A (p.His735Gln) c.2301C>A (p.His767Gln) | |
| 11 | g.68759600T>A | CA381625506 | CPT1A | c.2204A>T (p.His735Leu) c.2300A>T (p.His767Leu) | |
| 11 | g.68759600T>C | CA381625508 | CPT1A | c.2204A>G (p.His735Arg) c.2300A>G (p.His767Arg) | dbSNP |
| 11 | g.68759600T>G | CA381625510 | CPT1A | c.2204A>C (p.His735Pro) c.2300A>C (p.His767Pro) | |
| 11 | g.68759601G>A | CA381625515 | CPT1A | c.2203C>T (p.His735Tyr) c.2299C>T (p.His767Tyr) | |
| 11 | g.68759601G>C | CA223365665 | CPT1A | c.2203C>G (p.His735Asp) c.2299C>G (p.His767Asp) | dbSNP |
| 11 | g.68759601G>T | CA381625513 | CPT1A | c.2203C>A (p.His735Asn) c.2299C>A (p.His767Asn) | |
| 11 | g.68759602G>A | CA475181631 | CPT1A | c.2202C>T (p.Phe734=) c.2298C>T (p.Phe766=) | |
| 11 | g.68759602G>C | CA381625517 | CPT1A | c.2202C>G (p.Phe734Leu) c.2298C>G (p.Phe766Leu) | |
| 11 | g.68759602G>T | CA381625519 | CPT1A | c.2202C>A (p.Phe734Leu) c.2298C>A (p.Phe766Leu) | |
| 11 | g.68759603A>C | CA381625522 | CPT1A | c.2201T>G (p.Phe734Cys) c.2297T>G (p.Phe766Cys) | |
| 11 | g.68759603A>G | CA381625524 | CPT1A | c.2201T>C (p.Phe734Ser) c.2297T>C (p.Phe766Ser) | |
| 11 | g.68759603A>T | CA381625526 | CPT1A | c.2201T>A (p.Phe734Tyr) c.2297T>A (p.Phe766Tyr) | |
| 11 | g.68759604A>C | CA381625529 | CPT1A | c.2200T>G (p.Phe734Val) c.2296T>G (p.Phe766Val) | |
| 11 | g.68759604A>G | CA381625533 | CPT1A | c.2200T>C (p.Phe734Leu) c.2296T>C (p.Phe766Leu) | |
| 11 | g.68759604A>T | CA381625531 | CPT1A | c.2200T>A (p.Phe734Ile) c.2296T>A (p.Phe766Ile) | gnomAD v4 |
| 11 | g.68759605A>C | CA381625536 | CPT1A | c.2199T>G (p.Asn733Lys) c.2295T>G (p.Asn765Lys) | |
| 11 | g.68759605A>G | CA475181633 | CPT1A | c.2199T>C (p.Asn733=) c.2295T>C (p.Asn765=) | gnomAD v4 |
| 11 | g.68759605A>T | CA381625537 | CPT1A | c.2199T>A (p.Asn733Lys) c.2295T>A (p.Asn765Lys) | |
| 11 | g.68759606T>A | CA381625540 | CPT1A | c.2198A>T (p.Asn733Ile) c.2294A>T (p.Asn765Ile) | |
| 11 | g.68759606T>C | CA241021 | CPT1A | c.2198A>G (p.Asn733Ser) c.2294A>G (p.Asn765Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759606T>G | CA381625542 | CPT1A | c.2198A>C (p.Asn733Thr) c.2294A>C (p.Asn765Thr) | |
| 11 | g.68759606T= | CA2581032178 | CPT1A | c.2198A= (p.Asn733=) c.2294A= (p.Asn765=) | |
| 11 | g.68759607T>A | CA381625546 | CPT1A | c.2197A>T (p.Asn733Tyr) c.2293A>T (p.Asn765Tyr) | |
| 11 | g.68759607T>C | CA381625548 | CPT1A | c.2197A>G (p.Asn733Asp) c.2293A>G (p.Asn765Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759607T>G | CA381625550 | CPT1A | c.2197A>C (p.Asn733His) c.2293A>C (p.Asn765His) | COSMIC |
| 11 | g.68759608G>A | CA475181635 | CPT1A | c.2196C>T (p.Ile732=) c.2292C>T (p.Ile764=) | |
| 11 | g.68759608G>C | CA381625552 | CPT1A | c.2196C>G (p.Ile732Met) c.2292C>G (p.Ile764Met) | gnomAD v4 COSMIC |
| 11 | g.68759608G>T | CA475181637 | CPT1A | c.2196C>A (p.Ile732=) c.2292C>A (p.Ile764=) | gnomAD v4 |
| 11 | g.68759609A>C | CA381625555 | CPT1A | c.2195T>G (p.Ile732Ser) c.2291T>G (p.Ile764Ser) | |
| 11 | g.68759609A>G | CA381625556 | CPT1A | c.2195T>C (p.Ile732Thr) c.2291T>C (p.Ile764Thr) | |
| 11 | g.68759609A>T | CA381625558 | CPT1A | c.2195T>A (p.Ile732Asn) c.2291T>A (p.Ile764Asn) | |
| 11 | g.68759610T>A | CA381625561 | CPT1A | c.2194A>T (p.Ile732Phe) c.2290A>T (p.Ile764Phe) | gnomAD v4 |
| 11 | g.68759610T>C | CA381625566 | CPT1A | c.2194A>G (p.Ile732Val) c.2290A>G (p.Ile764Val) | |
| 11 | g.68759610T>G | CA381625563 | CPT1A | c.2194A>C (p.Ile732Leu) c.2290A>C (p.Ile764Leu) | |
| 11 | g.68759611G>A | CA475181639 | CPT1A | c.2193C>T (p.Leu731=) c.2289C>T (p.Leu763=) | dbSNP gnomAD v2 |
| 11 | g.68759611G>C | CA475181640 | CPT1A | c.2193C>G (p.Leu731=) c.2289C>G (p.Leu763=) | |
| 11 | g.68759611G>T | CA475181641 | CPT1A | c.2193C>A (p.Leu731=) c.2289C>A (p.Leu763=) | ClinVar dbSNP |
| 11 | g.68759612A>C | CA381625569 | CPT1A | c.2192T>G (p.Leu731Arg) c.2288T>G (p.Leu763Arg) | |
| 11 | g.68759612A>G | CA381625570 | CPT1A | c.2192T>C (p.Leu731Pro) c.2288T>C (p.Leu763Pro) | |
| 11 | g.68759612A>T | CA381625573 | CPT1A | c.2192T>A (p.Leu731His) c.2288T>A (p.Leu763His) | |
| 11 | g.68759613G>A | CA381625575 | CPT1A | c.2191C>T (p.Leu731Phe) c.2287C>T (p.Leu763Phe) | |
| 11 | g.68759613G>C | CA381625578 | CPT1A | c.2191C>G (p.Leu731Val) c.2287C>G (p.Leu763Val) | |
| 11 | g.68759613G>T | CA381625580 | CPT1A | c.2191C>A (p.Leu731Ile) c.2287C>A (p.Leu763Ile) | |
| 11 | g.68759614G>A | CA475181645 | CPT1A | c.2190C>T (p.Asn730=) c.2286C>T (p.Asn762=) | ClinVar |
| 11 | g.68759614G>C | CA381625583 | CPT1A | c.2190C>G (p.Asn730Lys) c.2286C>G (p.Asn762Lys) | |
| 11 | g.68759614G>T | CA381625585 | CPT1A | c.2190C>A (p.Asn730Lys) c.2286C>A (p.Asn762Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759615T>A | CA381625587 | CPT1A | c.2189A>T (p.Asn730Ile) c.2285A>T (p.Asn762Ile) | |
| 11 | g.68759615T>C | CA6152046 | CPT1A | c.2189A>G (p.Asn730Ser) c.2285A>G (p.Asn762Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759615T>G | CA381625589 | CPT1A | c.2189A>C (p.Asn730Thr) c.2285A>C (p.Asn762Thr) | dbSNP gnomAD v4 |
| 11 | g.68759616T>A | CA381625596 | CPT1A | c.2188A>T (p.Asn730Tyr) c.2284A>T (p.Asn762Tyr) | |
| 11 | g.68759616T>C | CA381625594 | CPT1A | c.2188A>G (p.Asn730Asp) c.2284A>G (p.Asn762Asp) | |
| 11 | g.68759616T>G | CA381625592 | CPT1A | c.2188A>C (p.Asn730His) c.2284A>C (p.Asn762His) | |
| 11 | g.68759617C>A | CA381625597 | CPT1A | c.2187G>T (p.Glu729Asp) c.2283G>T (p.Glu761Asp) | |
| 11 | g.68759617C>G | CA381625599 | CPT1A | c.2187G>C (p.Glu729Asp) c.2283G>C (p.Glu761Asp) | |
| 11 | g.68759617C>T | CA475181652 | CPT1A | c.2187G>A (p.Glu729=) c.2283G>A (p.Glu761=) | COSMIC COSMIC |
| 11 | g.68759618T>A | CA381625601 | CPT1A | c.2186A>T (p.Glu729Val) c.2282A>T (p.Glu761Val) | |
| 11 | g.68759618T>C | CA381625603 | CPT1A | c.2186A>G (p.Glu729Gly) c.2282A>G (p.Glu761Gly) | |
| 11 | g.68759618T>G | CA381625604 | CPT1A | c.2186A>C (p.Glu729Ala) c.2282A>C (p.Glu761Ala) | |
| 11 | g.68759619C>A | CA381625605 | CPT1A | c.2185G>T (p.Glu729Ter) c.2281G>T (p.Glu761Ter) | |
| 11 | g.68759619C>G | CA6152047 | CPT1A | c.2185G>C (p.Glu729Gln) c.2281G>C (p.Glu761Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759619C>T | CA381625609 | CPT1A | c.2185G>A (p.Glu729Lys) c.2281G>A (p.Glu761Lys) | |
| 11 | g.68759620T>A | CA475181655 | CPT1A | c.2184A>T (p.Gly728=) c.2280A>T (p.Gly760=) | |
| 11 | g.68759620T>C | CA6152048 | CPT1A | c.2184A>G (p.Gly728=) c.2280A>G (p.Gly760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759620T>G | CA475181656 | CPT1A | c.2184A>C (p.Gly728=) c.2280A>C (p.Gly760=) | ClinVar |
| 11 | g.68759621C>A | CA381625613 | CPT1A | c.2183G>T (p.Gly728Val) c.2279G>T (p.Gly760Val) | |
| 11 | g.68759621C>G | CA381625615 | CPT1A | c.2183G>C (p.Gly728Ala) c.2279G>C (p.Gly760Ala) | |
| 11 | g.68759621C>T | CA6152049 | CPT1A | c.2183G>A (p.Gly728Glu) c.2279G>A (p.Gly760Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759622C>A | CA381625626 | CPT1A | c.2182G>T (p.Gly728Ter) c.2278G>T (p.Gly760Ter) | COSMIC |
| 11 | g.68759622C>G | CA381625623 | CPT1A | c.2182G>C (p.Gly728Arg) c.2278G>C (p.Gly760Arg) | |
| 11 | g.68759622C>T | CA381625621 | CPT1A | c.2182G>A (p.Gly728Arg) c.2278G>A (p.Gly760Arg) | |
| 11 | g.68759623C>A | CA475181660 | CPT1A | c.2181G>T (p.Val727=) c.2277G>T (p.Val759=) | |
| 11 | g.68759623C>G | CA475181661 | CPT1A | c.2181G>C (p.Val727=) c.2277G>C (p.Val759=) | |
| 11 | g.68759623C>T | CA475181662 | CPT1A | c.2181G>A (p.Val727=) c.2277G>A (p.Val759=) | dbSNP |
| 11 | g.68759624A>C | CA381625629 | CPT1A | c.2180T>G (p.Val727Gly) c.2276T>G (p.Val759Gly) | |
| 11 | g.68759624A>G | CA381625631 | CPT1A | c.2180T>C (p.Val727Ala) c.2276T>C (p.Val759Ala) | |
| 11 | g.68759624A>T | CA381625633 | CPT1A | c.2180T>A (p.Val727Glu) c.2276T>A (p.Val759Glu) | |
| 11 | g.68759625C>A | CA381625636 | CPT1A | c.2179G>T (p.Val727Leu) c.2275G>T (p.Val759Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759625C>G | CA381625638 | CPT1A | c.2179G>C (p.Val727Leu) c.2275G>C (p.Val759Leu) | |
| 11 | g.68759625C>T | CA381625640 | CPT1A | c.2179G>A (p.Val727Met) c.2275G>A (p.Val759Met) | gnomAD v4 |
| 11 | g.68759626A>C | CA475181670 | CPT1A | c.2178T>G (p.Leu726=) c.2274T>G (p.Leu758=) | |
| 11 | g.68759626A>G | CA6152050 | CPT1A | c.2178T>C (p.Leu726=) c.2274T>C (p.Leu758=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759626A>T | CA475181671 | CPT1A | c.2178T>A (p.Leu726=) c.2274T>A (p.Leu758=) | |
| 11 | g.68759627A>C | CA381625644 | CPT1A | c.2177T>G (p.Leu726Arg) c.2273T>G (p.Leu758Arg) | |
| 11 | g.68759627A>G | CA381625648 | CPT1A | c.2177T>C (p.Leu726Pro) c.2273T>C (p.Leu758Pro) | gnomAD v4 |
| 11 | g.68759627A>T | CA381625646 | CPT1A | c.2177T>A (p.Leu726His) c.2273T>A (p.Leu758His) | |
| 11 | g.68759628G>A | CA381625651 | CPT1A | c.2176C>T (p.Leu726Phe) c.2272C>T (p.Leu758Phe) | |
| 11 | g.68759628G>C | CA381625653 | CPT1A | c.2176C>G (p.Leu726Val) c.2272C>G (p.Leu758Val) | |
| 11 | g.68759628G>T | CA381625654 | CPT1A | c.2176C>A (p.Leu726Ile) c.2272C>A (p.Leu758Ile) | |
| 11 | g.68759628_68759629delinsAA | CA645575723 | CPT1A | c.2175_2176delinsTT (p.Leu726Phe) c.2271_2272delinsTT (p.Leu758Phe) | COSMIC COSMIC |
| 11 | g.68759629G>A | CA475181672 | CPT1A | c.2175C>T (p.Ile725=) c.2271C>T (p.Ile757=) | gnomAD v4 |
| 11 | g.68759629G>C | CA381625657 | CPT1A | c.2175C>G (p.Ile725Met) c.2271C>G (p.Ile757Met) | |
| 11 | g.68759629G>T | CA475181673 | CPT1A | c.2175C>A (p.Ile725=) c.2271C>A (p.Ile757=) | |
| 11 | g.68759630A>C | CA381625661 | CPT1A | c.2174T>G (p.Ile725Ser) c.2270T>G (p.Ile757Ser) | |
| 11 | g.68759630A>G | CA381625659 | CPT1A | c.2174T>C (p.Ile725Thr) c.2270T>C (p.Ile757Thr) | |
| 11 | g.68759630A>T | CA381625660 | CPT1A | c.2174T>A (p.Ile725Asn) c.2270T>A (p.Ile757Asn) | |
| 11 | g.68759631T>A | CA381625662 | CPT1A | c.2173A>T (p.Ile725Phe) c.2269A>T (p.Ile757Phe) | |
| 11 | g.68759631T>C | CA6152051 | CPT1A | c.2173A>G (p.Ile725Val) c.2269A>G (p.Ile757Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759631T>G | CA381625663 | CPT1A | c.2173A>C (p.Ile725Leu) c.2269A>C (p.Ile757Leu) | |
| 11 | g.68759632G>A | CA475181681 | CPT1A | c.2172C>T (p.Tyr724=) c.2268C>T (p.Tyr756=) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.68759632G>C | CA381625664 | CPT1A | c.2172C>G (p.Tyr724Ter) c.2268C>G (p.Tyr756Ter) | |
| 11 | g.68759632G>T | CA381625665 | CPT1A | c.2172C>A (p.Tyr724Ter) c.2268C>A (p.Tyr756Ter) | |
| 11 | g.68759633_68759636dup | CA6152052 | CPT1A | c.2169_2172dup (p.Ile725ValfsTer21) c.2265_2268dup (p.Ile757ValfsTer21) | dbSNP ExAC gnomAD v4 |
| 11 | g.68759633T>A | CA381625666 | CPT1A | c.2171A>T (p.Tyr724Phe) c.2267A>T (p.Tyr756Phe) | |
| 11 | g.68759633T>C | CA381625667 | CPT1A | c.2171A>G (p.Tyr724Cys) c.2267A>G (p.Tyr756Cys) | dbSNP gnomAD v4 |
| 11 | g.68759633T>G | CA381625668 | CPT1A | c.2171A>C (p.Tyr724Ser) c.2267A>C (p.Tyr756Ser) | |
| 11 | g.68759634A>C | CA381625669 | CPT1A | c.2170T>G (p.Tyr724Asp) c.2266T>G (p.Tyr756Asp) | |
| 11 | g.68759634A>G | CA381625670 | CPT1A | c.2170T>C (p.Tyr724His) c.2266T>C (p.Tyr756His) | |
| 11 | g.68759634A>T | CA381625671 | CPT1A | c.2170T>A (p.Tyr724Asn) c.2266T>A (p.Tyr756Asn) | |
| 11 | g.68759635C>A | CA475181684 | CPT1A | c.2169G>T (p.Ser723=) c.2265G>T (p.Ser755=) | |
| 11 | g.68759635C>G | CA475181683 | CPT1A | c.2169G>C (p.Ser723=) c.2265G>C (p.Ser755=) | |
| 11 | g.68759635C>T | CA6152053 | CPT1A | c.2169G>A (p.Ser723=) c.2265G>A (p.Ser755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759636G>A | CA381625672 | CPT1A | c.2168C>T (p.Ser723Leu) c.2264C>T (p.Ser755Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759636G>C | CA381625674 | CPT1A | c.2168C>G (p.Ser723Trp) c.2264C>G (p.Ser755Trp) | |
| 11 | g.68759636G>T | CA381625673 | CPT1A | c.2168C>A (p.Ser723Ter) c.2264C>A (p.Ser755Ter) | gnomAD v4 |
| 11 | g.68759637A>C | CA381625675 | CPT1A | c.2167T>G (p.Ser723Ala) c.2263T>G (p.Ser755Ala) | |
| 11 | g.68759637A>G | CA381625676 | CPT1A | c.2167T>C (p.Ser723Pro) c.2263T>C (p.Ser755Pro) | |
| 11 | g.68759637A>T | CA381625677 | CPT1A | c.2167T>A (p.Ser723Thr) c.2263T>A (p.Ser755Thr) | |
| 11 | g.68759638C>A | CA475181689 | CPT1A | c.2166G>T (p.Val722=) c.2262G>T (p.Val754=) | |
| 11 | g.68759638C>G | CA475181685 | CPT1A | c.2166G>C (p.Val722=) c.2262G>C (p.Val754=) | |
| 11 | g.68759638C>T | CA475181688 | CPT1A | c.2166G>A (p.Val722=) c.2262G>A (p.Val754=) | ClinVar dbSNP |
| 11 | g.68759639A>C | CA381625678 | CPT1A | c.2165T>G (p.Val722Gly) c.2261T>G (p.Val754Gly) | |
| 11 | g.68759639A>G | CA381625679 | CPT1A | c.2165T>C (p.Val722Ala) c.2261T>C (p.Val754Ala) | |
| 11 | g.68759639A>T | CA381625680 | CPT1A | c.2165T>A (p.Val722Glu) c.2261T>A (p.Val754Glu) | |
| 11 | g.68759640C>A | CA381625681 | CPT1A | c.2164G>T (p.Val722Leu) c.2260G>T (p.Val754Leu) | |
| 11 | g.68759640C>G | CA381625683 | CPT1A | c.2164G>C (p.Val722Leu) c.2260G>C (p.Val754Leu) | |
| 11 | g.68759640C>T | CA381625685 | CPT1A | c.2164G>A (p.Val722Met) c.2260G>A (p.Val754Met) | gnomAD v4 |
| 11 | g.68759641A>C | CA475181693 | CPT1A | c.2163T>G (p.Gly721=) c.2259T>G (p.Gly753=) | |
| 11 | g.68759641A>G | CA475181694 | CPT1A | c.2163T>C (p.Gly721=) c.2259T>C (p.Gly753=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759641A>T | CA475181696 | CPT1A | c.2163T>A (p.Gly721=) c.2259T>A (p.Gly753=) | |
| 11 | g.68759642C>A | CA381625688 | CPT1A | c.2162G>T (p.Gly721Val) c.2258G>T (p.Gly753Val) | |
| 11 | g.68759642C>G | CA381625690 | CPT1A | c.2162G>C (p.Gly721Ala) c.2258G>C (p.Gly753Ala) | |
| 11 | g.68759642C>T | CA381625691 | CPT1A | c.2162G>A (p.Gly721Asp) c.2258G>A (p.Gly753Asp) | gnomAD v4 |
| 11 | g.68759643C>A | CA381625694 | CPT1A | c.2161G>T (p.Gly721Cys) c.2257G>T (p.Gly753Cys) | |
| 11 | g.68759643C>G | CA381625693 | CPT1A | c.2161G>C (p.Gly721Arg) c.2257G>C (p.Gly753Arg) | |
| 11 | g.68759643C>T | CA381625692 | CPT1A | c.2161G>A (p.Gly721Ser) c.2257G>A (p.Gly753Ser) | |
| 11 | g.68759644A>C | CA381625695 | CPT1A | c.2160T>G (p.Tyr720Ter) c.2256T>G (p.Tyr752Ter) | |
| 11 | g.68759644A>G | CA6152054 | CPT1A | c.2160T>C (p.Tyr720=) c.2256T>C (p.Tyr752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759644A>T | CA381625696 | CPT1A | c.2160T>A (p.Tyr720Ter) c.2256T>A (p.Tyr752Ter) | |
| 11 | g.68759645T>A | CA381625697 | CPT1A | c.2159A>T (p.Tyr720Phe) c.2255A>T (p.Tyr752Phe) | |
| 11 | g.68759645T>C | CA6152055 | CPT1A | c.2159A>G (p.Tyr720Cys) c.2255A>G (p.Tyr752Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759645T>G | CA381625698 | CPT1A | c.2159A>C (p.Tyr720Ser) c.2255A>C (p.Tyr752Ser) | |
| 11 | g.68759646A>C | CA381625699 | CPT1A | c.2158T>G (p.Tyr720Asp) c.2254T>G (p.Tyr752Asp) | |
| 11 | g.68759646A>G | CA381625700 | CPT1A | c.2158T>C (p.Tyr720His) c.2254T>C (p.Tyr752His) | |
| 11 | g.68759646A>T | CA381625701 | CPT1A | c.2158T>A (p.Tyr720Asn) c.2254T>A (p.Tyr752Asn) | |
| 11 | g.68759647G>A | CA475181705 | CPT1A | c.2157C>T (p.Gly719=) c.2253C>T (p.Gly751=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759647G>C | CA6152056 | CPT1A | c.2157C>G (p.Gly719=) c.2253C>G (p.Gly751=) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.68759647G>T | CA475181707 | CPT1A | c.2157C>A (p.Gly719=) c.2253C>A (p.Gly751=) | |
| 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) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759666A>G | CA2614740557 | CPT1A | c.2143-5T>C (n.2143-5T>C) c.2239-5T>C (n.2239-5T>C) | gnomAD v4 |
| 11 | g.68759666A>T | CA223365693 | CPT1A | c.2143-5T>A (n.2143-5T>A) c.2239-5T>A (n.2239-5T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759667G>A | CA223365697 | CPT1A | c.2143-6C>T (n.2143-6C>T) c.2239-6C>T (n.2239-6C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68759667G>T | CA2614740564 | CPT1A | c.2143-6C>A (n.2143-6C>A) c.2239-6C>A (n.2239-6C>A) | gnomAD v4 |
| 11 | g.68759668G>A | CA939164765 | CPT1A | c.2143-7C>T (n.2143-7C>T) c.2239-7C>T (n.2239-7C>T) | dbSNP gnomAD v4 |
| 11 | g.68759668G>T | CA2614740570 | CPT1A | c.2143-7C>A (n.2143-7C>A) c.2239-7C>A (n.2239-7C>A) | gnomAD v4 |
| 11 | g.68759669A>G | CA2614740573 | CPT1A | c.2143-8T>C (n.2143-8T>C) c.2239-8T>C (n.2239-8T>C) | gnomAD v4 |
| 11 | g.68759670C>T | CA6152061 | CPT1A | c.2143-9G>A (n.2143-9G>A) c.2239-9G>A (n.2239-9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759672A>G | CA2614740577 | CPT1A | c.2143-11T>C (n.2143-11T>C) c.2239-11T>C (n.2239-11T>C) | gnomAD v4 |
| 11 | g.68759673G>A | CA2614740583 | CPT1A | c.2143-12C>T (n.2143-12C>T) c.2239-12C>T (n.2239-12C>T) | gnomAD v4 |
| 11 | g.68759673G>C | CA599985085 | CPT1A | c.2143-12C>G (n.2143-12C>G) c.2239-12C>G (n.2239-12C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759674G>C | CA223365702 | CPT1A | c.2143-13C>G (n.2143-13C>G) c.2239-13C>G (n.2239-13C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759675G>A | CA2574903037 | CPT1A | c.2143-14C>T (n.2143-14C>T) c.2239-14C>T (n.2239-14C>T) | dbSNP |
| 11 | g.68759675G>T | CA2614740595 | CPT1A | c.2143-14C>A (n.2143-14C>A) c.2239-14C>A (n.2239-14C>A) | gnomAD v4 |
| 11 | g.68759676A>G | CA6152062 | CPT1A | c.2143-15T>C (n.2143-15T>C) c.2239-15T>C (n.2239-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759676A>T | CA6152063 | CPT1A | c.2143-15T>A (n.2143-15T>A) c.2239-15T>A (n.2239-15T>A) | dbSNP ExAC gnomAD v2 |