Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
ClinVar 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
11g.68759650G>ACA6152058CPT1Ac.2154C>T (p.Asp718=)
c.2250C>T (p.Asp750=)
dbSNP ExAC gnomAD
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)
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=)
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)
dbSNP ExAC gnomAD
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=)
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
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)
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 (p.=)
c.2239-1G>T (p.=)
11g.68759662C>GCA381625733CPT1Ac.2143-1G>C (p.=)
c.2239-1G>C (p.=)
11g.68759662C>TCA381625732CPT1Ac.2143-1G>A (p.=)
c.2239-1G>A (p.=)
11g.68759663T>ACA381625736CPT1Ac.2143-2A>T (p.=)
c.2239-2A>T (p.=)
11g.68759663T>CCA381625735CPT1Ac.2143-2A>G (p.=)
c.2239-2A>G (p.=)
gnomAD
11g.68759663T>GCA381625737CPT1Ac.2143-2A>C (p.=)
c.2239-2A>C (p.=)
11g.68759665G>ACA599985084CPT1Ac.2143-4C>T (p.=)
c.2239-4C>T (p.=)
gnomAD
11g.68759666A>TCA223365693CPT1Ac.2143-5T>A (p.=)
c.2239-5T>A (p.=)
dbSNP

Number of alleles fetched