Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68759633_68759636dupCA6152052CPT1Ac.2169_2172dup (p.Ile725ValfsTer21)
c.2265_2268dup (p.Ile757ValfsTer21)
 dbSNP ExAC gnomAD v4
11g.68759634A>CCA381625669CPT1Ac.2170T>G (p.Tyr724Asp)
c.2266T>G (p.Tyr756Asp)
11g.68759634A>GCA381625670CPT1Ac.2170T>C (p.Tyr724His)
c.2266T>C (p.Tyr756His)
11g.68759634A>TCA381625671CPT1Ac.2170T>A (p.Tyr724Asn)
c.2266T>A (p.Tyr756Asn)
11g.68759635C>ACA475181684CPT1Ac.2169G>T (p.Ser723=)
c.2265G>T (p.Ser755=)
11g.68759635C>GCA475181683CPT1Ac.2169G>C (p.Ser723=)
c.2265G>C (p.Ser755=)
11g.68759635C>TCA6152053CPT1Ac.2169G>A (p.Ser723=)
c.2265G>A (p.Ser755=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759636G>ACA381625672CPT1Ac.2168C>T (p.Ser723Leu)
c.2264C>T (p.Ser755Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.68759636G>CCA381625674CPT1Ac.2168C>G (p.Ser723Trp)
c.2264C>G (p.Ser755Trp)
11g.68759636G>TCA381625673CPT1Ac.2168C>A (p.Ser723Ter)
c.2264C>A (p.Ser755Ter)
 gnomAD v4
11g.68759637A>CCA381625675CPT1Ac.2167T>G (p.Ser723Ala)
c.2263T>G (p.Ser755Ala)
11g.68759637A>GCA381625676CPT1Ac.2167T>C (p.Ser723Pro)
c.2263T>C (p.Ser755Pro)
11g.68759637A>TCA381625677CPT1Ac.2167T>A (p.Ser723Thr)
c.2263T>A (p.Ser755Thr)
11g.68759638C>ACA475181689CPT1Ac.2166G>T (p.Val722=)
c.2262G>T (p.Val754=)
11g.68759638C>GCA475181685CPT1Ac.2166G>C (p.Val722=)
c.2262G>C (p.Val754=)
11g.68759638C>TCA475181688CPT1Ac.2166G>A (p.Val722=)
c.2262G>A (p.Val754=)
 ClinVar dbSNP
11g.68759639A>CCA381625678CPT1Ac.2165T>G (p.Val722Gly)
c.2261T>G (p.Val754Gly)
11g.68759639A>GCA381625679CPT1Ac.2165T>C (p.Val722Ala)
c.2261T>C (p.Val754Ala)
11g.68759639A>TCA381625680CPT1Ac.2165T>A (p.Val722Glu)
c.2261T>A (p.Val754Glu)
11g.68759640C>ACA381625681CPT1Ac.2164G>T (p.Val722Leu)
c.2260G>T (p.Val754Leu)
11g.68759640C>GCA381625683CPT1Ac.2164G>C (p.Val722Leu)
c.2260G>C (p.Val754Leu)
11g.68759640C>TCA381625685CPT1Ac.2164G>A (p.Val722Met)
c.2260G>A (p.Val754Met)
 gnomAD v4
11g.68759641A>CCA475181693CPT1Ac.2163T>G (p.Gly721=)
c.2259T>G (p.Gly753=)
11g.68759641A>GCA475181694CPT1Ac.2163T>C (p.Gly721=)
c.2259T>C (p.Gly753=)
 dbSNP gnomAD v3 gnomAD v4
11g.68759641A>TCA475181696CPT1Ac.2163T>A (p.Gly721=)
c.2259T>A (p.Gly753=)
11g.68759642C>ACA381625688CPT1Ac.2162G>T (p.Gly721Val)
c.2258G>T (p.Gly753Val)
11g.68759642C>GCA381625690CPT1Ac.2162G>C (p.Gly721Ala)
c.2258G>C (p.Gly753Ala)
11g.68759642C>TCA381625691CPT1Ac.2162G>A (p.Gly721Asp)
c.2258G>A (p.Gly753Asp)
 gnomAD v4
11g.68759643C>ACA381625694CPT1Ac.2161G>T (p.Gly721Cys)
c.2257G>T (p.Gly753Cys)
11g.68759643C>GCA381625693CPT1Ac.2161G>C (p.Gly721Arg)
c.2257G>C (p.Gly753Arg)
11g.68759643C>TCA381625692CPT1Ac.2161G>A (p.Gly721Ser)
c.2257G>A (p.Gly753Ser)
11g.68759644A>CCA381625695CPT1Ac.2160T>G (p.Tyr720Ter)
c.2256T>G (p.Tyr752Ter)
11g.68759644A>GCA6152054CPT1Ac.2160T>C (p.Tyr720=)
c.2256T>C (p.Tyr752=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759644A>TCA381625696CPT1Ac.2160T>A (p.Tyr720Ter)
c.2256T>A (p.Tyr752Ter)
11g.68759645T>ACA381625697CPT1Ac.2159A>T (p.Tyr720Phe)
c.2255A>T (p.Tyr752Phe)
11g.68759645T>CCA6152055CPT1Ac.2159A>G (p.Tyr720Cys)
c.2255A>G (p.Tyr752Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759645T>GCA381625698CPT1Ac.2159A>C (p.Tyr720Ser)
c.2255A>C (p.Tyr752Ser)
11g.68759646A>CCA381625699CPT1Ac.2158T>G (p.Tyr720Asp)
c.2254T>G (p.Tyr752Asp)
11g.68759646A>GCA381625700CPT1Ac.2158T>C (p.Tyr720His)
c.2254T>C (p.Tyr752His)
11g.68759646A>TCA381625701CPT1Ac.2158T>A (p.Tyr720Asn)
c.2254T>A (p.Tyr752Asn)
11g.68759647G>ACA475181705CPT1Ac.2157C>T (p.Gly719=)
c.2253C>T (p.Gly751=)
 dbSNP gnomAD v3 gnomAD v4
11g.68759647G>CCA6152056CPT1Ac.2157C>G (p.Gly719=)
c.2253C>G (p.Gly751=)
 ClinVar dbSNP ExAC gnomAD v2
11g.68759647G>TCA475181707CPT1Ac.2157C>A (p.Gly719=)
c.2253C>A (p.Gly751=)
11g.68759648C>ACA381625702CPT1Ac.2156G>T (p.Gly719Val)
c.2252G>T (p.Gly751Val)
11g.68759648C>GCA381625703CPT1Ac.2156G>C (p.Gly719Ala)
c.2252G>C (p.Gly751Ala)
11g.68759648C>TCA344981CPT1Ac.2156G>A (p.Gly719Asp)
c.2252G>A (p.Gly751Asp)
 dbSNP
11g.68759649C>ACA381625704CPT1Ac.2155G>T (p.Gly719Cys)
c.2251G>T (p.Gly751Cys)
11g.68759649C>GCA381625705CPT1Ac.2155G>C (p.Gly719Arg)
c.2251G>C (p.Gly751Arg)
11g.68759649C>TCA6152057CPT1Ac.2155G>A (p.Gly719Ser)
c.2251G>A (p.Gly751Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759650G>ACA6152058CPT1Ac.2154C>T (p.Asp718=)
c.2250C>T (p.Asp750=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759650G>CCA381625706CPT1Ac.2154C>G (p.Asp718Glu)
c.2250C>G (p.Asp750Glu)
11g.68759650G>TCA381625707CPT1Ac.2154C>A (p.Asp718Glu)
c.2250C>A (p.Asp750Glu)
11g.68759651T>ACA381625708CPT1Ac.2153A>T (p.Asp718Val)
c.2249A>T (p.Asp750Val)
11g.68759651T>CCA381625709CPT1Ac.2153A>G (p.Asp718Gly)
c.2249A>G (p.Asp750Gly)
11g.68759651T>GCA381625710CPT1Ac.2153A>C (p.Asp718Ala)
c.2249A>C (p.Asp750Ala)
11g.68759652C>ACA381625711CPT1Ac.2152G>T (p.Asp718Tyr)
c.2248G>T (p.Asp750Tyr)
11g.68759652C>GCA381625712CPT1Ac.2152G>C (p.Asp718His)
c.2248G>C (p.Asp750His)
 gnomAD v4
11g.68759652C>TCA381625713CPT1Ac.2152G>A (p.Asp718Asn)
c.2248G>A (p.Asp750Asn)
11g.68759653A>CCA381625714CPT1Ac.2151T>G (p.Asp717Glu)
c.2247T>G (p.Asp749Glu)
11g.68759653A>GCA475181718CPT1Ac.2151T>C (p.Asp717=)
c.2247T>C (p.Asp749=)
 gnomAD v4
11g.68759653A>TCA381625715CPT1Ac.2151T>A (p.Asp717Glu)
c.2247T>A (p.Asp749Glu)
11g.68759654T>ACA381625716CPT1Ac.2150A>T (p.Asp717Val)
c.2246A>T (p.Asp749Val)
11g.68759654T>CCA381625717CPT1Ac.2150A>G (p.Asp717Gly)
c.2246A>G (p.Asp749Gly)
11g.68759654T>GCA381625718CPT1Ac.2150A>C (p.Asp717Ala)
c.2246A>C (p.Asp749Ala)
11g.68759655C>ACA381625720CPT1Ac.2149G>T (p.Asp717Tyr)
c.2245G>T (p.Asp749Tyr)
11g.68759655C>GCA381625719CPT1Ac.2149G>C (p.Asp717His)
c.2245G>C (p.Asp749His)
11g.68759655C>TCA6152059CPT1Ac.2149G>A (p.Asp717Asn)
c.2245G>A (p.Asp749Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759656A>CCA475181719CPT1Ac.2148T>G (p.Ala716=)
c.2244T>G (p.Ala748=)
 COSMIC COSMIC
11g.68759656A>GCA475181721CPT1Ac.2148T>C (p.Ala716=)
c.2244T>C (p.Ala748=)
 ClinVar dbSNP gnomAD v4
11g.68759656A>TCA475181722CPT1Ac.2148T>A (p.Ala716=)
c.2244T>A (p.Ala748=)
11g.68759657G>ACA6152060CPT1Ac.2147C>T (p.Ala716Val)
c.2243C>T (p.Ala748Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759657G>CCA381625721CPT1Ac.2147C>G (p.Ala716Gly)
c.2243C>G (p.Ala748Gly)
11g.68759657G>TCA381625722CPT1Ac.2147C>A (p.Ala716Asp)
c.2243C>A (p.Ala748Asp)
11g.68759658C>ACA381625723CPT1Ac.2146G>T (p.Ala716Ser)
c.2242G>T (p.Ala748Ser)
11g.68759658C>GCA381625724CPT1Ac.2146G>C (p.Ala716Pro)
c.2242G>C (p.Ala748Pro)
11g.68759658C>TCA381625725CPT1Ac.2146G>A (p.Ala716Thr)
c.2242G>A (p.Ala748Thr)
11g.68759659A>CCA475181726CPT1Ac.2145T>G (p.Val715=)
c.2241T>G (p.Val747=)
11g.68759659A>GCA475181727CPT1Ac.2145T>C (p.Val715=)
c.2241T>C (p.Val747=)
11g.68759659A>TCA475181728CPT1Ac.2145T>A (p.Val715=)
c.2241T>A (p.Val747=)
11g.68759660A>CCA381625726CPT1Ac.2144T>G (p.Val715Gly)
c.2240T>G (p.Val747Gly)
11g.68759660A>GCA381625727CPT1Ac.2144T>C (p.Val715Ala)
c.2240T>C (p.Val747Ala)
 gnomAD v4
11g.68759660A>TCA381625728CPT1Ac.2144T>A (p.Val715Asp)
c.2240T>A (p.Val747Asp)
11g.68759661C>ACA381625729CPT1Ac.2143G>T (p.Val715Phe)
c.2239G>T (p.Val747Phe)
11g.68759661C>GCA381625730CPT1Ac.2143G>C (p.Val715Leu)
c.2239G>C (p.Val747Leu)
11g.68759661C>TCA381625731CPT1Ac.2143G>A (p.Val715Ile)
c.2239G>A (p.Val747Ile)
11g.68759662C>ACA381625734CPT1Ac.2143-1G>T (n.2143-1G>T)
c.2239-1G>T (n.2239-1G>T)
11g.68759662C>GCA381625733CPT1Ac.2143-1G>C (n.2143-1G>C)
c.2239-1G>C (n.2239-1G>C)
11g.68759662C>TCA381625732CPT1Ac.2143-1G>A (n.2143-1G>A)
c.2239-1G>A (n.2239-1G>A)
11g.68759663T>ACA381625736CPT1Ac.2143-2A>T (n.2143-2A>T)
c.2239-2A>T (n.2239-2A>T)
11g.68759663T>CCA381625735CPT1Ac.2143-2A>G (n.2143-2A>G)
c.2239-2A>G (n.2239-2A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.68759663T>GCA381625737CPT1Ac.2143-2A>C (n.2143-2A>C)
c.2239-2A>C (n.2239-2A>C)
11g.68759664G>ACA2614740550CPT1Ac.2143-3C>T (n.2143-3C>T)
c.2239-3C>T (n.2239-3C>T)
 gnomAD v4
11g.68759665G>ACA599985084CPT1Ac.2143-4C>T (n.2143-4C>T)
c.2239-4C>T (n.2239-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68759666A>GCA2614740557CPT1Ac.2143-5T>C (n.2143-5T>C)
c.2239-5T>C (n.2239-5T>C)
 gnomAD v4
11g.68759666A>TCA223365693CPT1Ac.2143-5T>A (n.2143-5T>A)
c.2239-5T>A (n.2239-5T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68759667G>ACA223365697CPT1Ac.2143-6C>T (n.2143-6C>T)
c.2239-6C>T (n.2239-6C>T)
 ClinVar dbSNP gnomAD v4
11g.68759667G>TCA2614740564CPT1Ac.2143-6C>A (n.2143-6C>A)
c.2239-6C>A (n.2239-6C>A)
 gnomAD v4
11g.68759668G>ACA939164765CPT1Ac.2143-7C>T (n.2143-7C>T)
c.2239-7C>T (n.2239-7C>T)
 dbSNP gnomAD v4
11g.68759668G>TCA2614740570CPT1Ac.2143-7C>A (n.2143-7C>A)
c.2239-7C>A (n.2239-7C>A)
 gnomAD v4
11g.68759669A>GCA2614740573CPT1Ac.2143-8T>C (n.2143-8T>C)
c.2239-8T>C (n.2239-8T>C)
 gnomAD v4
11g.68759670C>TCA6152061CPT1Ac.2143-9G>A (n.2143-9G>A)
c.2239-9G>A (n.2239-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759672A>GCA2614740577CPT1Ac.2143-11T>C (n.2143-11T>C)
c.2239-11T>C (n.2239-11T>C)
 gnomAD v4
11g.68759673G>ACA2614740583CPT1Ac.2143-12C>T (n.2143-12C>T)
c.2239-12C>T (n.2239-12C>T)
 gnomAD v4
11g.68759673G>CCA599985085CPT1Ac.2143-12C>G (n.2143-12C>G)
c.2239-12C>G (n.2239-12C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68759674G>CCA223365702CPT1Ac.2143-13C>G (n.2143-13C>G)
c.2239-13C>G (n.2239-13C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.68759675G>ACA2574903037CPT1Ac.2143-14C>T (n.2143-14C>T)
c.2239-14C>T (n.2239-14C>T)
 dbSNP
11g.68759675G>TCA2614740595CPT1Ac.2143-14C>A (n.2143-14C>A)
c.2239-14C>A (n.2239-14C>A)
 gnomAD v4
11g.68759676A>GCA6152062CPT1Ac.2143-15T>C (n.2143-15T>C)
c.2239-15T>C (n.2239-15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759676A>TCA6152063CPT1Ac.2143-15T>A (n.2143-15T>A)
c.2239-15T>A (n.2239-15T>A)
 dbSNP ExAC gnomAD v2
11g.68759680delCA2574903038CPT1Ac.2143-17del (n.2143-17del)
c.2239-17del (n.2239-17del)
11g.68759679T>ACA2574903039CPT1Ac.2143-18A>T (n.2143-18A>T)
c.2239-18A>T (n.2239-18A>T)
11g.68759680_68759681insTCACATAAATCA2792552358CPT1Ac.2143-19_2143-18insTTTATGTGAA (n.2143-19_2143-18insTTTATGTGAA)
c.2239-19_2239-18insTTTATGTGAA (n.2239-19_2239-18insTTTATGTGAA)
11g.68759680_68759681insTCACATAAATGCA2792552359CPT1Ac.2143-20_2143-19insCATTTATGTGA (n.2143-20_2143-19insCATTTATGTGA)
c.2239-20_2239-19insCATTTATGTGA (n.2239-20_2239-19insCATTTATGTGA)
11g.68759681G>ACA2614740606CPT1Ac.2143-20C>T (n.2143-20C>T)
c.2239-20C>T (n.2239-20C>T)
 gnomAD v4
11g.68759681G>TCA2614740607CPT1Ac.2143-20C>A (n.2143-20C>A)
c.2239-20C>A (n.2239-20C>A)
 gnomAD v4
11g.68759681_68759682insGACTGCTTTTAAAAAAACA2792552360CPT1Ac.2143-21_2143-20insTTTTTTTAAAAGCAGTC (n.2143-21_2143-20insTTTTTTTAAAAGCAGTC)
c.2239-21_2239-20insTTTTTTTAAAAGCAGTC (n.2239-21_2239-20insTTTTTTTAAAAGCAGTC)
11g.68759682A>CCA6152064CPT1Ac.2143-21T>G (n.2143-21T>G)
c.2239-21T>G (n.2239-21T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759682A>TCA2614740609CPT1Ac.2143-21T>A (n.2143-21T>A)
c.2239-21T>A (n.2239-21T>A)
 gnomAD v4
11g.68759682_68759683insCTGCTTTTCA2792552361CPT1Ac.2143-22_2143-21insAAAAGCAG (n.2143-22_2143-21insAAAAGCAG)
c.2239-22_2239-21insAAAAGCAG (n.2239-22_2239-21insAAAAGCAG)
11g.68759683_68759686delCA2614740612CPT1Ac.2143-25_2143-22del (n.2143-25_2143-22del)
c.2239-25_2239-22del (n.2239-25_2239-22del)
 gnomAD v4
11g.68759683_68759684insAAAAAAAATTTTCA2792552362CPT1Ac.2143-23_2143-22insAAAATTTTTTTT (n.2143-23_2143-22insAAAATTTTTTTT)
c.2239-23_2239-22insAAAATTTTTTTT (n.2239-23_2239-22insAAAATTTTTTTT)
11g.68759685T>ACA2574903040CPT1Ac.2143-24A>T (n.2143-24A>T)
c.2239-24A>T (n.2239-24A>T)
11g.68759686T>ACA2574903041CPT1Ac.2143-25A>T (n.2143-25A>T)
c.2239-25A>T (n.2239-25A>T)
11g.68759686T>CCA2614740616CPT1Ac.2143-25A>G (n.2143-25A>G)
c.2239-25A>G (n.2239-25A>G)
 gnomAD v4
11g.68759687G>ACA599985087CPT1Ac.2143-26C>T (n.2143-26C>T)
c.2239-26C>T (n.2239-26C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.68759687G>TCA6152065CPT1Ac.2143-26C>A (n.2143-26C>A)
c.2239-26C>A (n.2239-26C>A)
 dbSNP ExAC gnomAD v4
11g.68759688T>CCA6152066CPT1Ac.2143-27A>G (n.2143-27A>G)
c.2239-27A>G (n.2239-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759689T>ACA2574903042CPT1Ac.2143-28A>T (n.2143-28A>T)
c.2239-28A>T (n.2239-28A>T)
11g.68759690G>ACA599985090CPT1Ac.2143-29C>T (n.2143-29C>T)
c.2239-29C>T (n.2239-29C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.68759690G>CCA6152067CPT1Ac.2143-29C>G (n.2143-29C>G)
c.2239-29C>G (n.2239-29C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759690G>TCA2574903043CPT1Ac.2143-29C>A (n.2143-29C>A)
c.2239-29C>A (n.2239-29C>A)
 gnomAD v4
11g.68759691C>TCA2614740628CPT1Ac.2143-30G>A (n.2143-30G>A)
c.2239-30G>A (n.2239-30G>A)
 gnomAD v4
11g.68759692T>CCA2614740629CPT1Ac.2143-31A>G (n.2143-31A>G)
c.2239-31A>G (n.2239-31A>G)
 gnomAD v4
11g.68759693G>ACA2614740632CPT1Ac.2143-32C>T (n.2143-32C>T)
c.2239-32C>T (n.2239-32C>T)
 gnomAD v4
11g.68759693G>TCA2614740636CPT1Ac.2143-32C>A (n.2143-32C>A)
c.2239-32C>A (n.2239-32C>A)
 gnomAD v4
11g.68759694G>CCA599985092CPT1Ac.2143-33C>G (n.2143-33C>G)
c.2239-33C>G (n.2239-33C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.68759694G>TCA2614740667CPT1Ac.2143-33C>A (n.2143-33C>A)
c.2239-33C>A (n.2239-33C>A)
 gnomAD v4
11g.68759695G>ACA599985094CPT1Ac.2143-34C>T (n.2143-34C>T)
c.2239-34C>T (n.2239-34C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.68759695G>TCA2614740676CPT1Ac.2143-34C>A (n.2143-34C>A)
c.2239-34C>A (n.2239-34C>A)
 gnomAD v4
11g.68759697A>CCA2574903044CPT1Ac.2143-36T>G (n.2143-36T>G)
c.2239-36T>G (n.2239-36T>G)
11g.68759699T>CCA223365718CPT1Ac.2143-38A>G (n.2143-38A>G)
c.2239-38A>G (n.2239-38A>G)
 dbSNP gnomAD v2
11g.68759700G>ACA2614740679CPT1Ac.2143-39C>T (n.2143-39C>T)
c.2239-39C>T (n.2239-39C>T)
 gnomAD v4
11g.68759700G>TCA6152068CPT1Ac.2143-39C>A (n.2143-39C>A)
c.2239-39C>A (n.2239-39C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759701A>GCA2574903045CPT1Ac.2143-40T>C (n.2143-40T>C)
c.2239-40T>C (n.2239-40T>C)
11g.68759702G>ACA2574903046CPT1Ac.2143-41C>T (n.2143-41C>T)
c.2239-41C>T (n.2239-41C>T)
11g.68759704C>ACA6152069CPT1Ac.2143-43G>T (n.2143-43G>T)
c.2239-43G>T (n.2239-43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759705A>GCA6152070CPT1Ac.2143-44T>C (n.2143-44T>C)
c.2239-44T>C (n.2239-44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68759706delCA2614740688CPT1Ac.2143-44del (n.2143-44del)
c.2239-44del (n.2239-44del)
 gnomAD v4
11g.68759706A>GCA223365732CPT1Ac.2143-45T>C (n.2143-45T>C)
c.2239-45T>C (n.2239-45T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68759707C>TCA6152071CPT1Ac.2143-46G>A (n.2143-46G>A)
c.2239-46G>A (n.2239-46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759708G>ACA6152072CPT1Ac.2143-47C>T (n.2143-47C>T)
c.2239-47C>T (n.2239-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68759708G>CCA2614740703CPT1Ac.2143-47C>G (n.2143-47C>G)
c.2239-47C>G (n.2239-47C>G)
 gnomAD v4
11g.68759708G>TCA2614740704CPT1Ac.2143-47C>A (n.2143-47C>A)
c.2239-47C>A (n.2239-47C>A)
 gnomAD v4
11g.68759710G>ACA2574903047CPT1Ac.2143-49C>T (n.2143-49C>T)
c.2239-49C>T (n.2239-49C>T)
11g.68759715delCA2574903048CPT1Ac.2143-50del (n.2143-50del)
c.2239-50del (n.2239-50del)
 gnomAD v4
11g.68759714A>GCA2792552363CPT1Ac.2143-53T>C (n.2143-53T>C)
c.2239-53T>C (n.2239-53T>C)
11g.68759715A>GCA2574903049CPT1Ac.2143-54T>C (n.2143-54T>C)
c.2239-54T>C (n.2239-54T>C)
 dbSNP gnomAD v4
11g.68759716G>ACA2574903050CPT1Ac.2143-55C>T (n.2143-55C>T)
c.2239-55C>T (n.2239-55C>T)
 gnomAD v4
11g.68759718G>ACA223365740CPT1Ac.2143-57C>T (n.2143-57C>T)
c.2239-57C>T (n.2239-57C>T)
 dbSNP gnomAD v4
11g.68759720C>ACA2574903051CPT1Ac.2143-59G>T (n.2143-59G>T)
c.2239-59G>T (n.2239-59G>T)
11g.68759720_68759721delCA679630603CPT1Ac.2143-60_2143-59del (n.2143-60_2143-59del)
c.2239-60_2239-59del (n.2239-60_2239-59del)
 dbSNP
11g.68759721T>CCA2614740712CPT1Ac.2143-60A>G (n.2143-60A>G)
c.2239-60A>G (n.2239-60A>G)
 gnomAD v4
11g.68759722_68759723dupCA2792552364CPT1Ac.2143-61_2143-60dup (n.2143-61_2143-60dup)
c.2239-61_2239-60dup (n.2239-61_2239-60dup)
11g.68759722T>CCA2614740716CPT1Ac.2143-61A>G (n.2143-61A>G)
c.2239-61A>G (n.2239-61A>G)
 gnomAD v4
11g.68759724C>GCA2614740723CPT1Ac.2143-63G>C (n.2143-63G>C)
c.2239-63G>C (n.2239-63G>C)
 dbSNP gnomAD v4
11g.68759725T>ACA2614740725CPT1Ac.2143-64A>T (n.2143-64A>T)
c.2239-64A>T (n.2239-64A>T)
 gnomAD v4
11g.68759726A>CCA599985098CPT1Ac.2143-65T>G (n.2143-65T>G)
c.2239-65T>G (n.2239-65T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68759727A>GCA679630607CPT1Ac.2143-66T>C (n.2143-66T>C)
c.2239-66T>C (n.2239-66T>C)
 dbSNP gnomAD v4
11g.68759728T>CCA2614740727CPT1Ac.2143-67A>G (n.2143-67A>G)
c.2239-67A>G (n.2239-67A>G)
 gnomAD v4
11g.68759729G>ACA223365743CPT1Ac.2143-68C>T (n.2143-68C>T)
c.2239-68C>T (n.2239-68C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.68759729G>TCA2614740728CPT1Ac.2143-68C>A (n.2143-68C>A)
c.2239-68C>A (n.2239-68C>A)
 gnomAD v4
11g.68759731delCA679630609CPT1Ac.2143-69del (n.2143-69del)
c.2239-69del (n.2239-69del)
 dbSNP gnomAD v3 gnomAD v4
11g.68759731T>CCA679630611CPT1Ac.2143-70A>G (n.2143-70A>G)
c.2239-70A>G (n.2239-70A>G)
 dbSNP gnomAD v4
11g.68759732delCA2614740732CPT1Ac.2143-71del (n.2143-71del)
c.2239-71del (n.2239-71del)
 gnomAD v4
11g.68759733T>ACA2574903052CPT1Ac.2143-72A>T (n.2143-72A>T)
c.2239-72A>T (n.2239-72A>T)
11g.68759734A>GCA2614740737CPT1Ac.2143-73T>C (n.2143-73T>C)
c.2239-73T>C (n.2239-73T>C)
 gnomAD v4

Number of alleles fetched