Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68794794G>ACA2499221277CPT1Ac.879+10C>T (n.879+10C>T)
c.135+10C>T (n.135+10C>T)
c.975+10C>T (n.975+10C>T)
 ClinVar dbSNP gnomAD v4
11g.68794794G>TCA2614737719CPT1Ac.879+10C>A (n.879+10C>A)
c.135+10C>A (n.135+10C>A)
c.975+10C>A (n.975+10C>A)
 gnomAD v4
11g.68794795T>CCA939203368CPT1Ac.879+9A>G (n.879+9A>G)
c.135+9A>G (n.135+9A>G)
c.975+9A>G (n.975+9A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68794798G>TCA2614737725CPT1Ac.879+6C>A (n.879+6C>A)
c.135+6C>A (n.135+6C>A)
c.975+6C>A (n.975+6C>A)
 gnomAD v4
11g.68794800C>GCA599990748CPT1Ac.879+4G>C (n.879+4G>C)
c.135+4G>C (n.135+4G>C)
c.975+4G>C (n.975+4G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68794802A>CCA381634429CPT1Ac.879+2T>G (n.879+2T>G)
c.135+2T>G (n.135+2T>G)
c.975+2T>G (n.975+2T>G)
11g.68794802A>GCA381634425CPT1Ac.879+2T>C (n.879+2T>C)
c.135+2T>C (n.135+2T>C)
c.975+2T>C (n.975+2T>C)
11g.68794802A>TCA381634427CPT1Ac.879+2T>A (n.879+2T>A)
c.135+2T>A (n.135+2T>A)
c.975+2T>A (n.975+2T>A)
11g.68794803C>ACA381634431CPT1Ac.879+1G>T (n.879+1G>T)
c.135+1G>T (n.135+1G>T)
c.975+1G>T (n.975+1G>T)
11g.68794803C>GCA381634432CPT1Ac.879+1G>C (n.879+1G>C)
c.135+1G>C (n.135+1G>C)
c.975+1G>C (n.975+1G>C)
11g.68794803C>TCA381634433CPT1Ac.879+1G>A (n.879+1G>A)
c.135+1G>A (n.135+1G>A)
c.975+1G>A (n.975+1G>A)
 gnomAD v4
11g.68794804T>ACA475203592CPT1Ac.879A>T (p.Pro293=)
c.135A>T (p.Pro45=)
c.975A>T (p.Pro325=)
11g.68794804T>CCA475203594CPT1Ac.879A>G (p.Pro293=)
c.135A>G (p.Pro45=)
c.975A>G (p.Pro325=)
 ClinVar
11g.68794804T>GCA475203595CPT1Ac.879A>C (p.Pro293=)
c.135A>C (p.Pro45=)
c.975A>C (p.Pro325=)
11g.68794805G>ACA381634434CPT1Ac.878C>T (p.Pro293Leu)
c.134C>T (p.Pro45Leu)
c.974C>T (p.Pro325Leu)
11g.68794805G>CCA381634435CPT1Ac.878C>G (p.Pro293Arg)
c.134C>G (p.Pro45Arg)
c.974C>G (p.Pro325Arg)
 gnomAD v4
11g.68794805G>TCA381634436CPT1Ac.878C>A (p.Pro293Gln)
c.134C>A (p.Pro45Gln)
c.974C>A (p.Pro325Gln)
11g.68794806G>ACA381634437CPT1Ac.877C>T (p.Pro293Ser)
c.133C>T (p.Pro45Ser)
c.973C>T (p.Pro325Ser)
11g.68794806G>CCA381634438CPT1Ac.877C>G (p.Pro293Ala)
c.133C>G (p.Pro45Ala)
c.973C>G (p.Pro325Ala)
11g.68794806G>TCA381634439CPT1Ac.877C>A (p.Pro293Thr)
c.133C>A (p.Pro45Thr)
c.973C>A (p.Pro325Thr)
11g.68794807T>ACA381634440CPT1Ac.876A>T (p.Lys292Asn)
c.132A>T (p.Lys44Asn)
c.972A>T (p.Lys324Asn)
11g.68794807T>CCA475203600CPT1Ac.876A>G (p.Lys292=)
c.132A>G (p.Lys44=)
c.972A>G (p.Lys324=)
 dbSNP
11g.68794807T>GCA381634441CPT1Ac.876A>C (p.Lys292Asn)
c.132A>C (p.Lys44Asn)
c.972A>C (p.Lys324Asn)
11g.68794808T>ACA381634443CPT1Ac.875A>T (p.Lys292Ile)
c.131A>T (p.Lys44Ile)
c.971A>T (p.Lys324Ile)
11g.68794808T>CCA381634444CPT1Ac.875A>G (p.Lys292Arg)
c.131A>G (p.Lys44Arg)
c.971A>G (p.Lys324Arg)
11g.68794808T>GCA381634442CPT1Ac.875A>C (p.Lys292Thr)
c.131A>C (p.Lys44Thr)
c.971A>C (p.Lys324Thr)
11g.68794809T>ACA381634445CPT1Ac.874A>T (p.Lys292Ter)
c.130A>T (p.Lys44Ter)
c.970A>T (p.Lys324Ter)
11g.68794809T>CCA381634446CPT1Ac.874A>G (p.Lys292Glu)
c.130A>G (p.Lys44Glu)
c.970A>G (p.Lys324Glu)
11g.68794809T>GCA381634447CPT1Ac.874A>C (p.Lys292Gln)
c.130A>C (p.Lys44Gln)
c.970A>C (p.Lys324Gln)
11g.68794810G>ACA475203611CPT1Ac.873C>T (p.Ile291=)
c.129C>T (p.Ile43=)
c.969C>T (p.Ile323=)
 ClinVar dbSNP
11g.68794810G>CCA381634448CPT1Ac.873C>G (p.Ile291Met)
c.129C>G (p.Ile43Met)
c.969C>G (p.Ile323Met)
11g.68794810G>TCA475203608CPT1Ac.873C>A (p.Ile291=)
c.129C>A (p.Ile43=)
c.969C>A (p.Ile323=)
 gnomAD v4
11g.68794811A>CCA381634449CPT1Ac.872T>G (p.Ile291Ser)
c.128T>G (p.Ile43Ser)
c.968T>G (p.Ile323Ser)
11g.68794811A>GCA381634450CPT1Ac.872T>C (p.Ile291Thr)
c.128T>C (p.Ile43Thr)
c.968T>C (p.Ile323Thr)
11g.68794811A>TCA6152502CPT1Ac.872T>A (p.Ile291Asn)
c.128T>A (p.Ile43Asn)
c.968T>A (p.Ile323Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794812T>ACA381634451CPT1Ac.871A>T (p.Ile291Phe)
c.127A>T (p.Ile43Phe)
c.967A>T (p.Ile323Phe)
11g.68794812T>CCA381634452CPT1Ac.871A>G (p.Ile291Val)
c.127A>G (p.Ile43Val)
c.967A>G (p.Ile323Val)
11g.68794812T>GCA381634453CPT1Ac.871A>C (p.Ile291Leu)
c.127A>C (p.Ile43Leu)
c.967A>C (p.Ile323Leu)
11g.68794813T>ACA381634454CPT1Ac.870A>T (p.Glu290Asp)
c.126A>T (p.Glu42Asp)
c.966A>T (p.Glu322Asp)
11g.68794813T>CCA475203617CPT1Ac.870A>G (p.Glu290=)
c.126A>G (p.Glu42=)
c.966A>G (p.Glu322=)
 gnomAD v4
11g.68794813T>GCA381634455CPT1Ac.870A>C (p.Glu290Asp)
c.126A>C (p.Glu42Asp)
c.966A>C (p.Glu322Asp)
11g.68794814T>ACA381634458CPT1Ac.869A>T (p.Glu290Val)
c.125A>T (p.Glu42Val)
c.965A>T (p.Glu322Val)
11g.68794814T>CCA381634459CPT1Ac.869A>G (p.Glu290Gly)
c.125A>G (p.Glu42Gly)
c.965A>G (p.Glu322Gly)
11g.68794814T>GCA381634457CPT1Ac.869A>C (p.Glu290Ala)
c.125A>C (p.Glu42Ala)
c.965A>C (p.Glu322Ala)
11g.68794815C>ACA381634460CPT1Ac.868G>T (p.Glu290Ter)
c.124G>T (p.Glu42Ter)
c.964G>T (p.Glu322Ter)
11g.68794815C>GCA381634461CPT1Ac.868G>C (p.Glu290Gln)
c.124G>C (p.Glu42Gln)
c.964G>C (p.Glu322Gln)
11g.68794815C>TCA381634462CPT1Ac.868G>A (p.Glu290Lys)
c.124G>A (p.Glu42Lys)
c.964G>A (p.Glu322Lys)
11g.68794816C>ACA381634463CPT1Ac.867G>T (p.Glu289Asp)
c.123G>T (p.Glu41Asp)
c.963G>T (p.Glu321Asp)
11g.68794816C>GCA381634464CPT1Ac.867G>C (p.Glu289Asp)
c.123G>C (p.Glu41Asp)
c.963G>C (p.Glu321Asp)
11g.68794816C>TCA475203623CPT1Ac.867G>A (p.Glu289=)
c.123G>A (p.Glu41=)
c.963G>A (p.Glu321=)
 dbSNP gnomAD v2

Number of alleles fetched