Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68793341G>ACA344989CPT1Ac.941C>T (p.Thr314Ile)
c.197C>T (p.Thr66Ile)
c.1037C>T (p.Thr346Ile)
 ClinVar dbSNP gnomAD v4
11g.68793341G>CCA381634188CPT1Ac.941C>G (p.Thr314Ser)
c.197C>G (p.Thr66Ser)
c.1037C>G (p.Thr346Ser)
11g.68793341G>TCA381634187CPT1Ac.941C>A (p.Thr314Asn)
c.197C>A (p.Thr66Asn)
c.1037C>A (p.Thr346Asn)
11g.68793342T>ACA381634189CPT1Ac.940A>T (p.Thr314Ser)
c.196A>T (p.Thr66Ser)
c.1036A>T (p.Thr346Ser)
11g.68793342T>CCA381634190CPT1Ac.940A>G (p.Thr314Ala)
c.196A>G (p.Thr66Ala)
c.1036A>G (p.Thr346Ala)
 COSMIC COSMIC
11g.68793342T>GCA381634191CPT1Ac.940A>C (p.Thr314Pro)
c.196A>C (p.Thr66Pro)
c.1036A>C (p.Thr346Pro)
11g.68793343A>CCA381634192CPT1Ac.939T>G (p.Asn313Lys)
c.195T>G (p.Asn65Lys)
c.1035T>G (p.Asn345Lys)
11g.68793343A>GCA475202051CPT1Ac.939T>C (p.Asn313=)
c.195T>C (p.Asn65=)
c.1035T>C (p.Asn345=)
 gnomAD v4
11g.68793343A>TCA381634193CPT1Ac.939T>A (p.Asn313Lys)
c.195T>A (p.Asn65Lys)
c.1035T>A (p.Asn345Lys)
11g.68793344T>ACA381634194CPT1Ac.938A>T (p.Asn313Ile)
c.194A>T (p.Asn65Ile)
c.1034A>T (p.Asn345Ile)
11g.68793344T>CCA381634195CPT1Ac.938A>G (p.Asn313Ser)
c.194A>G (p.Asn65Ser)
c.1034A>G (p.Asn345Ser)
 gnomAD v4
11g.68793344T>GCA381634196CPT1Ac.938A>C (p.Asn313Thr)
c.194A>C (p.Asn65Thr)
c.1034A>C (p.Asn345Thr)
11g.68793345T>ACA381634197CPT1Ac.937A>T (p.Asn313Tyr)
c.193A>T (p.Asn65Tyr)
c.1033A>T (p.Asn345Tyr)
11g.68793345T>CCA381634198CPT1Ac.937A>G (p.Asn313Asp)
c.193A>G (p.Asn65Asp)
c.1033A>G (p.Asn345Asp)
 ClinVar dbSNP gnomAD v4
11g.68793345T>GCA381634199CPT1Ac.937A>C (p.Asn313His)
c.193A>C (p.Asn65His)
c.1033A>C (p.Asn345His)
11g.68793346A>CCA381634200CPT1Ac.936T>G (p.Phe312Leu)
c.192T>G (p.Phe64Leu)
c.1032T>G (p.Phe344Leu)
11g.68793346A>GCA475202062CPT1Ac.936T>C (p.Phe312=)
c.192T>C (p.Phe64=)
c.1032T>C (p.Phe344=)
11g.68793346A>TCA381634201CPT1Ac.936T>A (p.Phe312Leu)
c.192T>A (p.Phe64Leu)
c.1032T>A (p.Phe344Leu)
11g.68793347A>CCA381634204CPT1Ac.935T>G (p.Phe312Cys)
c.191T>G (p.Phe64Cys)
c.1031T>G (p.Phe344Cys)
11g.68793347A>GCA381634202CPT1Ac.935T>C (p.Phe312Ser)
c.191T>C (p.Phe64Ser)
c.1031T>C (p.Phe344Ser)
11g.68793347A>TCA381634203CPT1Ac.935T>A (p.Phe312Tyr)
c.191T>A (p.Phe64Tyr)
c.1031T>A (p.Phe344Tyr)
11g.68793348A>CCA381634205CPT1Ac.934T>G (p.Phe312Val)
c.190T>G (p.Phe64Val)
c.1030T>G (p.Phe344Val)
11g.68793348A>GCA381634206CPT1Ac.934T>C (p.Phe312Leu)
c.190T>C (p.Phe64Leu)
c.1030T>C (p.Phe344Leu)
 COSMIC COSMIC
11g.68793348A>TCA381634207CPT1Ac.934T>A (p.Phe312Ile)
c.190T>A (p.Phe64Ile)
c.1030T>A (p.Phe344Ile)
11g.68793349C>ACA381634208CPT1Ac.933G>T (p.Met311Ile)
c.189G>T (p.Met63Ile)
c.1029G>T (p.Met343Ile)
11g.68793349C>GCA381634209CPT1Ac.933G>C (p.Met311Ile)
c.189G>C (p.Met63Ile)
c.1029G>C (p.Met343Ile)
11g.68793349C>TCA6152476CPT1Ac.933G>A (p.Met311Ile)
c.189G>A (p.Met63Ile)
c.1029G>A (p.Met343Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793350A>CCA381634210CPT1Ac.932T>G (p.Met311Arg)
c.188T>G (p.Met63Arg)
c.1028T>G (p.Met343Arg)
11g.68793350A>GCA6152477CPT1Ac.932T>C (p.Met311Thr)
c.188T>C (p.Met63Thr)
c.1028T>C (p.Met343Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793350A>TCA381634211CPT1Ac.932T>A (p.Met311Lys)
c.188T>A (p.Met63Lys)
c.1028T>A (p.Met343Lys)
11g.68793351T>ACA381634212CPT1Ac.931A>T (p.Met311Leu)
c.187A>T (p.Met63Leu)
c.1027A>T (p.Met343Leu)
11g.68793351T>CCA381634213CPT1Ac.931A>G (p.Met311Val)
c.187A>G (p.Met63Val)
c.1027A>G (p.Met343Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68793351T>GCA381634214CPT1Ac.931A>C (p.Met311Leu)
c.187A>C (p.Met63Leu)
c.1027A>C (p.Met343Leu)
11g.68793352C>ACA475202094CPT1Ac.930G>T (p.Arg310=)
c.186G>T (p.Arg62=)
c.1026G>T (p.Arg342=)
11g.68793352C>GCA6152478CPT1Ac.930G>C (p.Arg310=)
c.186G>C (p.Arg62=)
c.1026G>C (p.Arg342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793352C>TCA475202098CPT1Ac.930G>A (p.Arg310=)
c.186G>A (p.Arg62=)
c.1026G>A (p.Arg342=)
11g.68793353C>ACA381634215CPT1Ac.929G>T (p.Arg310Leu)
c.185G>T (p.Arg62Leu)
c.1025G>T (p.Arg342Leu)
11g.68793353C>GCA381634216CPT1Ac.929G>C (p.Arg310Pro)
c.185G>C (p.Arg62Pro)
c.1025G>C (p.Arg342Pro)
11g.68793353C>TCA6152479CPT1Ac.929G>A (p.Arg310Gln)
c.185G>A (p.Arg62Gln)
c.1025G>A (p.Arg342Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68793354G>ACA6152480CPT1Ac.928C>T (p.Arg310Trp)
c.184C>T (p.Arg62Trp)
c.1024C>T (p.Arg342Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793354G>CCA381634217CPT1Ac.928C>G (p.Arg310Gly)
c.184C>G (p.Arg62Gly)
c.1024C>G (p.Arg342Gly)
11g.68793354G>TCA475202115CPT1Ac.928C>A (p.Arg310=)
c.184C>A (p.Arg62=)
c.1024C>A (p.Arg342=)
 gnomAD v4
11g.68793355C>ACA381634218CPT1Ac.927G>T (p.Glu309Asp)
c.183G>T (p.Glu61Asp)
c.1023G>T (p.Glu341Asp)
 ClinVar
11g.68793355C>GCA381634219CPT1Ac.927G>C (p.Glu309Asp)
c.183G>C (p.Glu61Asp)
c.1023G>C (p.Glu341Asp)
11g.68793355C>TCA475202120CPT1Ac.927G>A (p.Glu309=)
c.183G>A (p.Glu61=)
c.1023G>A (p.Glu341=)
11g.68793356T>ACA381634220CPT1Ac.926A>T (p.Glu309Val)
c.182A>T (p.Glu61Val)
c.1022A>T (p.Glu341Val)
11g.68793356T>CCA381634221CPT1Ac.926A>G (p.Glu309Gly)
c.182A>G (p.Glu61Gly)
c.1022A>G (p.Glu341Gly)
11g.68793356T>GCA381634222CPT1Ac.926A>C (p.Glu309Ala)
c.182A>C (p.Glu61Ala)
c.1022A>C (p.Glu341Ala)
11g.68793357C>ACA381634223CPT1Ac.925G>T (p.Glu309Ter)
c.181G>T (p.Glu61Ter)
c.1021G>T (p.Glu341Ter)
11g.68793357C>GCA381634224CPT1Ac.925G>C (p.Glu309Gln)
c.181G>C (p.Glu61Gln)
c.1021G>C (p.Glu341Gln)

Number of alleles fetched