Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68804092T>ACA381636134CPT1Ac.463A>T (p.Lys155Ter)
c.559A>T (p.Lys187Ter)
11g.68804092T>CCA223393537CPT1Ac.463A>G (p.Lys155Glu)
c.559A>G (p.Lys187Glu)
 dbSNP gnomAD v4
11g.68804092T>GCA381636135CPT1Ac.463A>C (p.Lys155Gln)
c.559A>C (p.Lys187Gln)
11g.68804093G>ACA475205755CPT1Ac.462C>T (p.Val154=)
c.558C>T (p.Val186=)
11g.68804093G>CCA475205757CPT1Ac.462C>G (p.Val154=)
c.558C>G (p.Val186=)
11g.68804093G>TCA475205759CPT1Ac.462C>A (p.Val154=)
c.558C>A (p.Val186=)
 gnomAD v4
11g.68804094A>CCA381636136CPT1Ac.461T>G (p.Val154Gly)
c.557T>G (p.Val186Gly)
11g.68804094A>GCA381636138CPT1Ac.461T>C (p.Val154Ala)
c.557T>C (p.Val186Ala)
11g.68804094A>TCA381636137CPT1Ac.461T>A (p.Val154Asp)
c.557T>A (p.Val186Asp)
11g.68804095C>ACA381636139CPT1Ac.460G>T (p.Val154Phe)
c.556G>T (p.Val186Phe)
 gnomAD v4
11g.68804095C>GCA381636140CPT1Ac.460G>C (p.Val154Leu)
c.556G>C (p.Val186Leu)
 gnomAD v4
11g.68804095C>TCA381636141CPT1Ac.460G>A (p.Val154Ile)
c.556G>A (p.Val186Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.68804096delCA2574903446CPT1Ac.460del (p.Val154SerfsTer30)
c.556del (p.Val186SerfsTer30)
 gnomAD v4
11g.68804096C>ACA381636142CPT1Ac.459G>T (p.Met153Ile)
c.555G>T (p.Met185Ile)
11g.68804096C>GCA381636143CPT1Ac.459G>C (p.Met153Ile)
c.555G>C (p.Met185Ile)
11g.68804096C>TCA381636144CPT1Ac.459G>A (p.Met153Ile)
c.555G>A (p.Met185Ile)
 ClinVar dbSNP gnomAD v4
11g.68804097A>CCA381636145CPT1Ac.458T>G (p.Met153Arg)
c.554T>G (p.Met185Arg)
11g.68804097A>GCA6152651CPT1Ac.458T>C (p.Met153Thr)
c.554T>C (p.Met185Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68804097A>TCA381636146CPT1Ac.458T>A (p.Met153Lys)
c.554T>A (p.Met185Lys)
11g.68804098T>ACA381636147CPT1Ac.457A>T (p.Met153Leu)
c.553A>T (p.Met185Leu)
11g.68804098T>CCA6152652CPT1Ac.457A>G (p.Met153Val)
c.553A>G (p.Met185Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804098T>GCA381636148CPT1Ac.457A>C (p.Met153Leu)
c.553A>C (p.Met185Leu)
11g.68804099A>CCA475205793CPT1Ac.456T>G (p.Gly152=)
c.552T>G (p.Gly184=)
11g.68804099A>GCA475205796CPT1Ac.456T>C (p.Gly152=)
c.552T>C (p.Gly184=)
11g.68804099A>TCA475205798CPT1Ac.456T>A (p.Gly152=)
c.552T>A (p.Gly184=)
11g.68804100C>ACA6152653CPT1Ac.455G>T (p.Gly152Val)
c.551G>T (p.Gly184Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804100C>GCA381636149CPT1Ac.455G>C (p.Gly152Ala)
c.551G>C (p.Gly184Ala)
11g.68804100C>TCA381636150CPT1Ac.455G>A (p.Gly152Asp)
c.551G>A (p.Gly184Asp)
 gnomAD v4
11g.68804101C>ACA381636151CPT1Ac.454G>T (p.Gly152Cys)
c.550G>T (p.Gly184Cys)
 gnomAD v4
11g.68804101C>GCA381636152CPT1Ac.454G>C (p.Gly152Arg)
c.550G>C (p.Gly184Arg)
11g.68804101C>TCA381636153CPT1Ac.454G>A (p.Gly152Ser)
c.550G>A (p.Gly184Ser)
 ClinVar
11g.68804102C>ACA381636154CPT1Ac.454-1G>T (n.454-1G>T)
c.550-1G>T (n.550-1G>T)
11g.68804102C>GCA381636155CPT1Ac.454-1G>C (n.454-1G>C)
c.550-1G>C (n.550-1G>C)
11g.68804102C>TCA381636156CPT1Ac.454-1G>A (n.454-1G>A)
c.550-1G>A (n.550-1G>A)
11g.68804103T>ACA381636157CPT1Ac.454-2A>T (n.454-2A>T)
c.550-2A>T (n.550-2A>T)
 gnomAD v4
11g.68804103T>CCA381636158CPT1Ac.454-2A>G (n.454-2A>G)
c.550-2A>G (n.550-2A>G)
 gnomAD v4
11g.68804103T>GCA381636159CPT1Ac.454-2A>C (n.454-2A>C)
c.550-2A>C (n.550-2A>C)
11g.68804104G>ACA223393538CPT1Ac.454-3C>T (n.454-3C>T)
c.550-3C>T (n.550-3C>T)
 dbSNP
11g.68804104_68804107delCA645580011CPT1Ac.454-6_454-3del (n.454-6_454-3del)
c.550-6_550-3del (n.550-6_550-3del)
 COSMIC COSMIC
11g.68804105A>GCA599991995CPT1Ac.454-4T>C (n.454-4T>C)
c.550-4T>C (n.550-4T>C)
 dbSNP gnomAD v2
11g.68804105A>TCA2792553640CPT1Ac.454-4T>A (n.454-4T>A)
c.550-4T>A (n.550-4T>A)
11g.68804106A>GCA2614741309CPT1Ac.454-5T>C (n.454-5T>C)
c.550-5T>C (n.550-5T>C)
 ClinVar gnomAD v4
11g.68804113_68804114delCA6152654CPT1Ac.454-6_454-5del (n.454-6_454-5del)
c.550-6_550-5del (n.550-6_550-5del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68804107G>ACA2499221280CPT1Ac.454-6C>T (n.454-6C>T)
c.550-6C>T (n.550-6C>T)
 ClinVar dbSNP
11g.68804107G>CCA6152655CPT1Ac.454-6C>G (n.454-6C>G)
c.550-6C>G (n.550-6C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804107G>TCA2499221281CPT1Ac.454-6C>A (n.454-6C>A)
c.550-6C>A (n.550-6C>A)
 ClinVar dbSNP
11g.68804108A>GCA6152656CPT1Ac.454-7T>C (n.454-7T>C)
c.550-7T>C (n.550-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804109G>ACA2614741319CPT1Ac.454-8C>T (n.454-8C>T)
c.550-8C>T (n.550-8C>T)
 gnomAD v4
11g.68804109G>CCA2614741323CPT1Ac.454-8C>G (n.454-8C>G)
c.550-8C>G (n.550-8C>G)
 dbSNP gnomAD v4
11g.68804109G>TCA2614741325CPT1Ac.454-8C>A (n.454-8C>A)
c.550-8C>A (n.550-8C>A)
 gnomAD v4
11g.68804111G>ACA6152658CPT1Ac.454-10C>T (n.454-10C>T)
c.550-10C>T (n.550-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804111G>CCA6152657CPT1Ac.454-10C>G (n.454-10C>G)
c.550-10C>G (n.550-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804113G>ACA654348252CPT1Ac.454-12C>T (n.454-12C>T)
c.550-12C>T (n.550-12C>T)
 ClinVar COSMIC
11g.68804113G>TCA6152659CPT1Ac.454-12C>A (n.454-12C>A)
c.550-12C>A (n.550-12C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804115A>GCA223393580CPT1Ac.454-14T>C (n.454-14T>C)
c.550-14T>C (n.550-14T>C)
 ClinVar dbSNP gnomAD v4
11g.68804117delCA599992001CPT1Ac.454-15del (n.454-15del)
c.550-15del (n.550-15del)
 dbSNP gnomAD v2 gnomAD v4
11g.68804117T>GCA6152660CPT1Ac.454-16A>C (n.454-16A>C)
c.550-16A>C (n.550-16A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804118A>GCA2574903447CPT1Ac.454-17T>C (n.454-17T>C)
c.550-17T>C (n.550-17T>C)
 dbSNP
11g.68804119T>CCA2724578512CPT1Ac.454-18A>G (n.454-18A>G)
c.550-18A>G (n.550-18A>G)
 dbSNP
11g.68804121T>CCA2614741349CPT1Ac.454-20A>G (n.454-20A>G)
c.550-20A>G (n.550-20A>G)
 gnomAD v4
11g.68804122T>CCA2574903448CPT1Ac.454-21A>G (n.454-21A>G)
c.550-21A>G (n.550-21A>G)
11g.68804122T>GCA6152661CPT1Ac.454-21A>C (n.454-21A>C)
c.550-21A>C (n.550-21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804123T>ACA2724578514CPT1Ac.454-22A>T (n.454-22A>T)
c.550-22A>T (n.550-22A>T)
 dbSNP
11g.68804123T>CCA2614741351CPT1Ac.454-22A>G (n.454-22A>G)
c.550-22A>G (n.550-22A>G)
 gnomAD v4
11g.68804125C>ACA2614741353CPT1Ac.454-24G>T (n.454-24G>T)
c.550-24G>T (n.550-24G>T)
 gnomAD v4
11g.68804125C>TCA2614741354CPT1Ac.454-24G>A (n.454-24G>A)
c.550-24G>A (n.550-24G>A)
 gnomAD v4
11g.68804126A>GCA6152662CPT1Ac.454-25T>C (n.454-25T>C)
c.550-25T>C (n.550-25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804127G>CCA2614741360CPT1Ac.454-26C>G (n.454-26C>G)
c.550-26C>G (n.550-26C>G)
 gnomAD v4
11g.68804127G>TCA2614741364CPT1Ac.454-26C>A (n.454-26C>A)
c.550-26C>A (n.550-26C>A)
 gnomAD v4
11g.68804132C>TCA2574903449CPT1Ac.454-31G>A (n.454-31G>A)
c.550-31G>A (n.550-31G>A)
 gnomAD v4
11g.68804133delCA2792553641CPT1Ac.454-32del (n.454-32del)
c.550-32del (n.550-32del)
11g.68804133T>CCA6152663CPT1Ac.454-32A>G (n.454-32A>G)
c.550-32A>G (n.550-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804134G>TCA6152664CPT1Ac.454-33C>A (n.454-33C>A)
c.550-33C>A (n.550-33C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804135C>TCA2792553642CPT1Ac.454-34G>A (n.454-34G>A)
c.550-34G>A (n.550-34G>A)
11g.68804136delCA2574903450CPT1Ac.454-34del (n.454-34del)
c.550-34del (n.550-34del)
11g.68804139A>GCA6152665CPT1Ac.454-38T>C (n.454-38T>C)
c.550-38T>C (n.550-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68804140C>GCA2724292217CPT1Ac.454-39G>C (n.454-39G>C)
c.550-39G>C (n.550-39G>C)
 dbSNP
11g.68804141T>CCA2574903451CPT1Ac.454-40A>G (n.454-40A>G)
c.550-40A>G (n.550-40A>G)
 dbSNP gnomAD v4
11g.68804142A>TCA2614741379CPT1Ac.454-41T>A (n.454-41T>A)
c.550-41T>A (n.550-41T>A)
 gnomAD v4
11g.68804143C>TCA2564470749CPT1Ac.454-42G>A (n.454-42G>A)
c.550-42G>A (n.550-42G>A)
 dbSNP
11g.68804144T>ACA2614741382CPT1Ac.454-43A>T (n.454-43A>T)
c.550-43A>T (n.550-43A>T)
 gnomAD v4
11g.68804144T>CCA2614741383CPT1Ac.454-43A>G (n.454-43A>G)
c.550-43A>G (n.550-43A>G)
 dbSNP gnomAD v4
11g.68804145C>ACA599992005CPT1Ac.454-44G>T (n.454-44G>T)
c.550-44G>T (n.550-44G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.68804146T>CCA2614741386CPT1Ac.454-45A>G (n.454-45A>G)
c.550-45A>G (n.550-45A>G)
 gnomAD v4
11g.68804147G>ACA679636694CPT1Ac.454-46C>T (n.454-46C>T)
c.550-46C>T (n.550-46C>T)
 dbSNP gnomAD v4
11g.68804148A>GCA2614741391CPT1Ac.454-47T>C (n.454-47T>C)
c.550-47T>C (n.550-47T>C)
 gnomAD v4
11g.68804149A>CCA679636695CPT1Ac.454-48T>G (n.454-48T>G)
c.550-48T>G (n.550-48T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68804149A>GCA2792553643CPT1Ac.454-48T>C (n.454-48T>C)
c.550-48T>C (n.550-48T>C)
11g.68804150G>ACA6152666CPT1Ac.454-49C>T (n.454-49C>T)
c.550-49C>T (n.550-49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68804151G>ACA2614741398CPT1Ac.454-50C>T (n.454-50C>T)
c.550-50C>T (n.550-50C>T)
 gnomAD v4
11g.68804151G>CCA599992006CPT1Ac.454-50C>G (n.454-50C>G)
c.550-50C>G (n.550-50C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68804152C>ACA2614741401CPT1Ac.454-51G>T (n.454-51G>T)
c.550-51G>T (n.550-51G>T)
 gnomAD v4
11g.68804154C>ACA2614741404CPT1Ac.454-53G>T (n.454-53G>T)
c.550-53G>T (n.550-53G>T)
 dbSNP gnomAD v4
11g.68804154C>TCA2614741405CPT1Ac.454-53G>A (n.454-53G>A)
c.550-53G>A (n.550-53G>A)
 gnomAD v4
11g.68804157G>ACA2614741406CPT1Ac.454-56C>T (n.454-56C>T)
c.550-56C>T (n.550-56C>T)
 gnomAD v4
11g.68804157G>TCA2614741407CPT1Ac.454-56C>A (n.454-56C>A)
c.550-56C>A (n.550-56C>A)
 gnomAD v4
11g.68804158T>ACA2614741408CPT1Ac.454-57A>T (n.454-57A>T)
c.550-57A>T (n.550-57A>T)
 gnomAD v4
11g.68804158T>CCA2614741409CPT1Ac.454-57A>G (n.454-57A>G)
c.550-57A>G (n.550-57A>G)
 gnomAD v4
11g.68804160C>ACA2614741410CPT1Ac.454-59G>T (n.454-59G>T)
c.550-59G>T (n.550-59G>T)
 gnomAD v4
11g.68804161T>CCA2614741411CPT1Ac.454-60A>G (n.454-60A>G)
c.550-60A>G (n.550-60A>G)
 gnomAD v4
11g.68804161T>GCA2574903452CPT1Ac.454-60A>C (n.454-60A>C)
c.550-60A>C (n.550-60A>C)
 gnomAD v4
11g.68804162C>TCA223393632CPT1Ac.454-61G>A (n.454-61G>A)
c.550-61G>A (n.550-61G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68804163G>ACA223393633CPT1Ac.454-62C>T (n.454-62C>T)
c.550-62C>T (n.550-62C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68804163G>TCA2614741412CPT1Ac.454-62C>A (n.454-62C>A)
c.550-62C>A (n.550-62C>A)
 gnomAD v4
11g.68804164T>ACA2614741413CPT1Ac.454-63A>T (n.454-63A>T)
c.550-63A>T (n.550-63A>T)
 gnomAD v4
11g.68804165C>ACA2574903453CPT1Ac.454-64G>T (n.454-64G>T)
c.550-64G>T (n.550-64G>T)
11g.68804165C>GCA2614741414CPT1Ac.454-64G>C (n.454-64G>C)
c.550-64G>C (n.550-64G>C)
 gnomAD v4
11g.68804167G>TCA2614741415CPT1Ac.454-66C>A (n.454-66C>A)
c.550-66C>A (n.550-66C>A)
 gnomAD v4
11g.68804169T>GCA679636699CPT1Ac.454-68A>C (n.454-68A>C)
c.550-68A>C (n.550-68A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.68804170C>TCA223393641CPT1Ac.454-69G>A (n.454-69G>A)
c.550-69G>A (n.550-69G>A)
 dbSNP gnomAD v4
11g.68804171T>CCA223393645CPT1Ac.454-70A>G (n.454-70A>G)
c.550-70A>G (n.550-70A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68804172C>ACA2614741416CPT1Ac.454-71G>T (n.454-71G>T)
c.550-71G>T (n.550-71G>T)
 gnomAD v4
11g.68804172C>TCA223393646CPT1Ac.454-71G>A (n.454-71G>A)
c.550-71G>A (n.550-71G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68804173G>ACA2574903454CPT1Ac.454-72C>T (n.454-72C>T)
c.550-72C>T (n.550-72C>T)
 dbSNP gnomAD v4
11g.68804173G>TCA2574903455CPT1Ac.454-72C>A (n.454-72C>A)
c.550-72C>A (n.550-72C>A)
 gnomAD v4
11g.68804175G>TCA2574903456CPT1Ac.454-74C>A (n.454-74C>A)
c.550-74C>A (n.550-74C>A)
 gnomAD v4
11g.68804177A>GCA2614741423CPT1Ac.454-76T>C (n.454-76T>C)
c.550-76T>C (n.550-76T>C)
 gnomAD v4
11g.68804178G>ACA2614741424CPT1Ac.454-77C>T (n.454-77C>T)
c.550-77C>T (n.550-77C>T)
 gnomAD v4
11g.68804178G>TCA2614741426CPT1Ac.454-77C>A (n.454-77C>A)
c.550-77C>A (n.550-77C>A)
 gnomAD v4
11g.68804179C>ACA2614741428CPT1Ac.454-78G>T (n.454-78G>T)
c.550-78G>T (n.550-78G>T)
 gnomAD v4
11g.68804179C>TCA223393652CPT1Ac.454-78G>A (n.454-78G>A)
c.550-78G>A (n.550-78G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68804180T>CCA2614741431CPT1Ac.454-79A>G (n.454-79A>G)
c.550-79A>G (n.550-79A>G)
 gnomAD v4
11g.68804183G>CCA2614741432CPT1Ac.454-82C>G (n.454-82C>G)
c.550-82C>G (n.550-82C>G)
 gnomAD v4
11g.68804183G>TCA2614741469CPT1Ac.454-82C>A (n.454-82C>A)
c.550-82C>A (n.550-82C>A)
 gnomAD v4
11g.68804185A>TCA2614741470CPT1Ac.454-84T>A (n.454-84T>A)
c.550-84T>A (n.550-84T>A)
 gnomAD v4
11g.68804186G>TCA2574903457CPT1Ac.454-85C>A (n.454-85C>A)
c.550-85C>A (n.550-85C>A)
11g.68804188delCA2497319802CPT1Ac.454-85del (n.454-85del)
c.550-85del (n.550-85del)
 dbSNP
11g.68804187G>CCA2724292225CPT1Ac.454-86C>G (n.454-86C>G)
c.550-86C>G (n.550-86C>G)
 dbSNP
11g.68804187G>TCA2614741471CPT1Ac.454-86C>A (n.454-86C>A)
c.550-86C>A (n.550-86C>A)
 gnomAD v4
11g.68804187_68804188insACTCA2614741472CPT1Ac.454-87_454-86insAGT (n.454-87_454-86insAGT)
c.550-87_550-86insAGT (n.550-87_550-86insAGT)
 gnomAD v4
11g.68804188G>TCA2614741473CPT1Ac.454-87C>A (n.454-87C>A)
c.550-87C>A (n.550-87C>A)
 dbSNP gnomAD v4
11g.68804189T>ACA2614741474CPT1Ac.454-88A>T (n.454-88A>T)
c.550-88A>T (n.550-88A>T)
 gnomAD v4
11g.68804189T>CCA2614741475CPT1Ac.454-88A>G (n.454-88A>G)
c.550-88A>G (n.550-88A>G)
 gnomAD v4
11g.68804190C>ACA2614741476CPT1Ac.454-89G>T (n.454-89G>T)
c.550-89G>T (n.550-89G>T)
 gnomAD v4
11g.68804191A>CCA2614741477CPT1Ac.454-90T>G (n.454-90T>G)
c.550-90T>G (n.550-90T>G)
 gnomAD v4
11g.68804192G>ACA2614741478CPT1Ac.454-91C>T (n.454-91C>T)
c.550-91C>T (n.550-91C>T)
 gnomAD v4
11g.68804192G>TCA2574903458CPT1Ac.454-91C>A (n.454-91C>A)
c.550-91C>A (n.550-91C>A)
 gnomAD v4

Number of alleles fetched