Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.68759680del | CA2574903038 | CPT1A | c.2143-17del (n.2143-17del) c.2239-17del (n.2239-17del) | |
11 | g.68759679T>A | CA2574903039 | CPT1A | c.2143-18A>T (n.2143-18A>T) c.2239-18A>T (n.2239-18A>T) | |
11 | g.68759680_68759681insTCACATAAAT | CA2792552358 | CPT1A | c.2143-19_2143-18insTTTATGTGAA (n.2143-19_2143-18insTTTATGTGAA) c.2239-19_2239-18insTTTATGTGAA (n.2239-19_2239-18insTTTATGTGAA) | |
11 | g.68759680_68759681insTCACATAAATG | CA2792552359 | CPT1A | c.2143-20_2143-19insCATTTATGTGA (n.2143-20_2143-19insCATTTATGTGA) c.2239-20_2239-19insCATTTATGTGA (n.2239-20_2239-19insCATTTATGTGA) | |
11 | g.68759681G>A | CA2614740606 | CPT1A | c.2143-20C>T (n.2143-20C>T) c.2239-20C>T (n.2239-20C>T) | gnomAD v4 |
11 | g.68759681G>T | CA2614740607 | CPT1A | c.2143-20C>A (n.2143-20C>A) c.2239-20C>A (n.2239-20C>A) | gnomAD v4 |
11 | g.68759681_68759682insGACTGCTTTTAAAAAAA | CA2792552360 | CPT1A | c.2143-21_2143-20insTTTTTTTAAAAGCAGTC (n.2143-21_2143-20insTTTTTTTAAAAGCAGTC) c.2239-21_2239-20insTTTTTTTAAAAGCAGTC (n.2239-21_2239-20insTTTTTTTAAAAGCAGTC) | |
11 | g.68759682A>C | CA6152064 | CPT1A | c.2143-21T>G (n.2143-21T>G) c.2239-21T>G (n.2239-21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68759682A>T | CA2614740609 | CPT1A | c.2143-21T>A (n.2143-21T>A) c.2239-21T>A (n.2239-21T>A) | gnomAD v4 |
11 | g.68759682_68759683insCTGCTTTT | CA2792552361 | CPT1A | c.2143-22_2143-21insAAAAGCAG (n.2143-22_2143-21insAAAAGCAG) c.2239-22_2239-21insAAAAGCAG (n.2239-22_2239-21insAAAAGCAG) | |
11 | g.68759683_68759686del | CA2614740612 | CPT1A | c.2143-25_2143-22del (n.2143-25_2143-22del) c.2239-25_2239-22del (n.2239-25_2239-22del) | gnomAD v4 |
11 | g.68759683_68759684insAAAAAAAATTTT | CA2792552362 | CPT1A | c.2143-23_2143-22insAAAATTTTTTTT (n.2143-23_2143-22insAAAATTTTTTTT) c.2239-23_2239-22insAAAATTTTTTTT (n.2239-23_2239-22insAAAATTTTTTTT) | |
11 | g.68759685T>A | CA2574903040 | CPT1A | c.2143-24A>T (n.2143-24A>T) c.2239-24A>T (n.2239-24A>T) | |
11 | g.68759686T>A | CA2574903041 | CPT1A | c.2143-25A>T (n.2143-25A>T) c.2239-25A>T (n.2239-25A>T) | |
11 | g.68759686T>C | CA2614740616 | CPT1A | c.2143-25A>G (n.2143-25A>G) c.2239-25A>G (n.2239-25A>G) | gnomAD v4 |
11 | g.68759687G>A | CA599985087 | CPT1A | c.2143-26C>T (n.2143-26C>T) c.2239-26C>T (n.2239-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759687G>T | CA6152065 | CPT1A | c.2143-26C>A (n.2143-26C>A) c.2239-26C>A (n.2239-26C>A) | dbSNP ExAC gnomAD v4 |
11 | g.68759688T>C | CA6152066 | CPT1A | c.2143-27A>G (n.2143-27A>G) c.2239-27A>G (n.2239-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759689T>A | CA2574903042 | CPT1A | c.2143-28A>T (n.2143-28A>T) c.2239-28A>T (n.2239-28A>T) | |
11 | g.68759690G>A | CA599985090 | CPT1A | c.2143-29C>T (n.2143-29C>T) c.2239-29C>T (n.2239-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759690G>C | CA6152067 | CPT1A | c.2143-29C>G (n.2143-29C>G) c.2239-29C>G (n.2239-29C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759690G>T | CA2574903043 | CPT1A | c.2143-29C>A (n.2143-29C>A) c.2239-29C>A (n.2239-29C>A) | gnomAD v4 |
11 | g.68759691C>T | CA2614740628 | CPT1A | c.2143-30G>A (n.2143-30G>A) c.2239-30G>A (n.2239-30G>A) | gnomAD v4 |
11 | g.68759692T>C | CA2614740629 | CPT1A | c.2143-31A>G (n.2143-31A>G) c.2239-31A>G (n.2239-31A>G) | gnomAD v4 |
11 | g.68759693G>A | CA2614740632 | CPT1A | c.2143-32C>T (n.2143-32C>T) c.2239-32C>T (n.2239-32C>T) | gnomAD v4 |
11 | g.68759693G>T | CA2614740636 | CPT1A | c.2143-32C>A (n.2143-32C>A) c.2239-32C>A (n.2239-32C>A) | gnomAD v4 |
11 | g.68759694G>C | CA599985092 | CPT1A | c.2143-33C>G (n.2143-33C>G) c.2239-33C>G (n.2239-33C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759694G>T | CA2614740667 | CPT1A | c.2143-33C>A (n.2143-33C>A) c.2239-33C>A (n.2239-33C>A) | gnomAD v4 |
11 | g.68759695G>A | CA599985094 | CPT1A | c.2143-34C>T (n.2143-34C>T) c.2239-34C>T (n.2239-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759695G>T | CA2614740676 | CPT1A | c.2143-34C>A (n.2143-34C>A) c.2239-34C>A (n.2239-34C>A) | gnomAD v4 |
11 | g.68759697A>C | CA2574903044 | CPT1A | c.2143-36T>G (n.2143-36T>G) c.2239-36T>G (n.2239-36T>G) | |
11 | g.68759699T>C | CA223365718 | CPT1A | c.2143-38A>G (n.2143-38A>G) c.2239-38A>G (n.2239-38A>G) | dbSNP gnomAD v2 |
11 | g.68759700G>A | CA2614740679 | CPT1A | c.2143-39C>T (n.2143-39C>T) c.2239-39C>T (n.2239-39C>T) | gnomAD v4 |
11 | g.68759700G>T | CA6152068 | CPT1A | c.2143-39C>A (n.2143-39C>A) c.2239-39C>A (n.2239-39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68759701A>G | CA2574903045 | CPT1A | c.2143-40T>C (n.2143-40T>C) c.2239-40T>C (n.2239-40T>C) | |
11 | g.68759702G>A | CA2574903046 | CPT1A | c.2143-41C>T (n.2143-41C>T) c.2239-41C>T (n.2239-41C>T) | |
11 | g.68759704C>A | CA6152069 | CPT1A | c.2143-43G>T (n.2143-43G>T) c.2239-43G>T (n.2239-43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68759705A>G | CA6152070 | CPT1A | c.2143-44T>C (n.2143-44T>C) c.2239-44T>C (n.2239-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68759706del | CA2614740688 | CPT1A | c.2143-44del (n.2143-44del) c.2239-44del (n.2239-44del) | gnomAD v4 |
11 | g.68759706A>G | CA223365732 | CPT1A | c.2143-45T>C (n.2143-45T>C) c.2239-45T>C (n.2239-45T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759707C>T | CA6152071 | CPT1A | c.2143-46G>A (n.2143-46G>A) c.2239-46G>A (n.2239-46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759708G>A | CA6152072 | CPT1A | c.2143-47C>T (n.2143-47C>T) c.2239-47C>T (n.2239-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759708G>C | CA2614740703 | CPT1A | c.2143-47C>G (n.2143-47C>G) c.2239-47C>G (n.2239-47C>G) | gnomAD v4 |
11 | g.68759708G>T | CA2614740704 | CPT1A | c.2143-47C>A (n.2143-47C>A) c.2239-47C>A (n.2239-47C>A) | gnomAD v4 |
11 | g.68759710G>A | CA2574903047 | CPT1A | c.2143-49C>T (n.2143-49C>T) c.2239-49C>T (n.2239-49C>T) | |
11 | g.68759715del | CA2574903048 | CPT1A | c.2143-50del (n.2143-50del) c.2239-50del (n.2239-50del) | gnomAD v4 |
11 | g.68759714A>G | CA2792552363 | CPT1A | c.2143-53T>C (n.2143-53T>C) c.2239-53T>C (n.2239-53T>C) | |
11 | g.68759715A>G | CA2574903049 | CPT1A | c.2143-54T>C (n.2143-54T>C) c.2239-54T>C (n.2239-54T>C) | dbSNP gnomAD v4 |
11 | g.68759716G>A | CA2574903050 | CPT1A | c.2143-55C>T (n.2143-55C>T) c.2239-55C>T (n.2239-55C>T) | gnomAD v4 |
11 | g.68759718G>A | CA223365740 | CPT1A | c.2143-57C>T (n.2143-57C>T) c.2239-57C>T (n.2239-57C>T) | dbSNP gnomAD v4 |
11 | g.68759720C>A | CA2574903051 | CPT1A | c.2143-59G>T (n.2143-59G>T) c.2239-59G>T (n.2239-59G>T) | |
11 | g.68759720_68759721del | CA679630603 | CPT1A | c.2143-60_2143-59del (n.2143-60_2143-59del) c.2239-60_2239-59del (n.2239-60_2239-59del) | dbSNP |
11 | g.68759721T>C | CA2614740712 | CPT1A | c.2143-60A>G (n.2143-60A>G) c.2239-60A>G (n.2239-60A>G) | gnomAD v4 |
11 | g.68759722_68759723dup | CA2792552364 | CPT1A | c.2143-61_2143-60dup (n.2143-61_2143-60dup) c.2239-61_2239-60dup (n.2239-61_2239-60dup) | |
11 | g.68759722T>C | CA2614740716 | CPT1A | c.2143-61A>G (n.2143-61A>G) c.2239-61A>G (n.2239-61A>G) | gnomAD v4 |
11 | g.68759724C>G | CA2614740723 | CPT1A | c.2143-63G>C (n.2143-63G>C) c.2239-63G>C (n.2239-63G>C) | dbSNP gnomAD v4 |
11 | g.68759725T>A | CA2614740725 | CPT1A | c.2143-64A>T (n.2143-64A>T) c.2239-64A>T (n.2239-64A>T) | gnomAD v4 |
11 | g.68759726A>C | CA599985098 | CPT1A | c.2143-65T>G (n.2143-65T>G) c.2239-65T>G (n.2239-65T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759727A>G | CA679630607 | CPT1A | c.2143-66T>C (n.2143-66T>C) c.2239-66T>C (n.2239-66T>C) | dbSNP gnomAD v4 |
11 | g.68759728T>C | CA2614740727 | CPT1A | c.2143-67A>G (n.2143-67A>G) c.2239-67A>G (n.2239-67A>G) | gnomAD v4 |
11 | g.68759729G>A | CA223365743 | CPT1A | c.2143-68C>T (n.2143-68C>T) c.2239-68C>T (n.2239-68C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759729G>T | CA2614740728 | CPT1A | c.2143-68C>A (n.2143-68C>A) c.2239-68C>A (n.2239-68C>A) | gnomAD v4 |
11 | g.68759731del | CA679630609 | CPT1A | c.2143-69del (n.2143-69del) c.2239-69del (n.2239-69del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759731T>C | CA679630611 | CPT1A | c.2143-70A>G (n.2143-70A>G) c.2239-70A>G (n.2239-70A>G) | dbSNP gnomAD v4 |
11 | g.68759732del | CA2614740732 | CPT1A | c.2143-71del (n.2143-71del) c.2239-71del (n.2239-71del) | gnomAD v4 |
11 | g.68759733T>A | CA2574903052 | CPT1A | c.2143-72A>T (n.2143-72A>T) c.2239-72A>T (n.2239-72A>T) | |
11 | g.68759734A>G | CA2614740737 | CPT1A | c.2143-73T>C (n.2143-73T>C) c.2239-73T>C (n.2239-73T>C) | gnomAD v4 |
11 | g.68759737T>C | CA2614740738 | CPT1A | c.2143-76A>G (n.2143-76A>G) c.2239-76A>G (n.2239-76A>G) | gnomAD v4 |
11 | g.68759738G>A | CA223365746 | CPT1A | c.2143-77C>T (n.2143-77C>T) c.2239-77C>T (n.2239-77C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759738G>T | CA2574903053 | CPT1A | c.2143-77C>A (n.2143-77C>A) c.2239-77C>A (n.2239-77C>A) | dbSNP gnomAD v4 |
11 | g.68759739C>A | CA2614740745 | CPT1A | c.2143-78G>T (n.2143-78G>T) c.2239-78G>T (n.2239-78G>T) | gnomAD v4 |
11 | g.68759741_68759743del | CA2574903054 | CPT1A | c.2143-80_2143-78del (n.2143-80_2143-78del) c.2239-80_2239-78del (n.2239-80_2239-78del) | gnomAD v4 |
11 | g.68759741A>G | CA2614740746 | CPT1A | c.2143-80T>C (n.2143-80T>C) c.2239-80T>C (n.2239-80T>C) | gnomAD v4 |