Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68794860C>ACA381634569CPT1Ac.823G>T (p.Ala275Ser)
c.79G>T (p.Ala27Ser)
c.919G>T (p.Ala307Ser)
11g.68794860C=CA2497029805CPT1Ac.823G= (p.Ala275=)
c.79G= (p.Ala27=)
c.919G= (p.Ala307=)
11g.68794860C>GCA223386118CPT1Ac.823G>C (p.Ala275Pro)
c.79G>C (p.Ala27Pro)
c.919G>C (p.Ala307Pro)
dbSNP
11g.68794860C>TCA303058CPT1Ac.823G>A (p.Ala275Thr)
c.79G>A (p.Ala27Thr)
c.919G>A (p.Ala307Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794861G>ACA6152512CPT1Ac.822C>T (p.Asn274=)
c.78C>T (p.Asn26=)
c.918C>T (p.Asn306=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794861G>CCA381634575CPT1Ac.822C>G (p.Asn274Lys)
c.78C>G (p.Asn26Lys)
c.918C>G (p.Asn306Lys)
11g.68794861G>TCA381634577CPT1Ac.822C>A (p.Asn274Lys)
c.78C>A (p.Asn26Lys)
c.918C>A (p.Asn306Lys)
11g.68794862T>ACA381634581CPT1Ac.821A>T (p.Asn274Ile)
c.77A>T (p.Asn26Ile)
c.917A>T (p.Asn306Ile)
11g.68794862T>CCA381634582CPT1Ac.821A>G (p.Asn274Ser)
c.77A>G (p.Asn26Ser)
c.917A>G (p.Asn306Ser)
11g.68794862T>GCA381634579CPT1Ac.821A>C (p.Asn274Thr)
c.77A>C (p.Asn26Thr)
c.917A>C (p.Asn306Thr)
11g.68794863T>ACA381634585CPT1Ac.820A>T (p.Asn274Tyr)
c.76A>T (p.Asn26Tyr)
c.916A>T (p.Asn306Tyr)
11g.68794863T>CCA381634587CPT1Ac.820A>G (p.Asn274Asp)
c.76A>G (p.Asn26Asp)
c.916A>G (p.Asn306Asp)
11g.68794863T>GCA381634589CPT1Ac.820A>C (p.Asn274His)
c.76A>C (p.Asn26His)
c.916A>C (p.Asn306His)
11g.68794864G>ACA475203953CPT1Ac.819C>T (p.Gly273=)
c.75C>T (p.Gly25=)
c.915C>T (p.Gly305=)
11g.68794864G>CCA475203951CPT1Ac.819C>G (p.Gly273=)
c.75C>G (p.Gly25=)
c.915C>G (p.Gly305=)
11g.68794864G>TCA475203948CPT1Ac.819C>A (p.Gly273=)
c.75C>A (p.Gly25=)
c.915C>A (p.Gly305=)
11g.68794865C>ACA381634591CPT1Ac.818G>T (p.Gly273Val)
c.74G>T (p.Gly25Val)
c.914G>T (p.Gly305Val)
11g.68794865C>GCA381634593CPT1Ac.818G>C (p.Gly273Ala)
c.74G>C (p.Gly25Ala)
c.914G>C (p.Gly305Ala)
11g.68794865C>TCA381634595CPT1Ac.818G>A (p.Gly273Asp)
c.74G>A (p.Gly25Asp)
c.914G>A (p.Gly305Asp)
11g.68794866C>ACA381634597CPT1Ac.817G>T (p.Gly273Cys)
c.73G>T (p.Gly25Cys)
c.913G>T (p.Gly305Cys)
11g.68794866C>GCA381634599CPT1Ac.817G>C (p.Gly273Arg)
c.73G>C (p.Gly25Arg)
c.913G>C (p.Gly305Arg)
11g.68794866C>TCA6152513CPT1Ac.817G>A (p.Gly273Ser)
c.73G>A (p.Gly25Ser)
c.913G>A (p.Gly305Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68794867_68794869dupCA2497319740CPT1Ac.815_817dup (p.Ala272_Gly273insAla)
c.71_73dup (p.Ala24_Gly25insAla)
c.911_913dup (p.Ala304_Gly305insAla)
dbSNP
11g.68794867G>ACA6152514CPT1Ac.816C>T (p.Ala272=)
c.72C>T (p.Ala24=)
c.912C>T (p.Ala304=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794867G>CCA475203970CPT1Ac.816C>G (p.Ala272=)
c.72C>G (p.Ala24=)
c.912C>G (p.Ala304=)
11g.68794867G>TCA475203973CPT1Ac.816C>A (p.Ala272=)
c.72C>A (p.Ala24=)
c.912C>A (p.Ala304=)
11g.68794868G>ACA381634602CPT1Ac.815C>T (p.Ala272Val)
c.71C>T (p.Ala24Val)
c.911C>T (p.Ala304Val)
11g.68794868G>CCA381634604CPT1Ac.815C>G (p.Ala272Gly)
c.71C>G (p.Ala24Gly)
c.911C>G (p.Ala304Gly)
11g.68794868G>TCA381634607CPT1Ac.815C>A (p.Ala272Asp)
c.71C>A (p.Ala24Asp)
c.911C>A (p.Ala304Asp)
11g.68794869C>ACA381634613CPT1Ac.814G>T (p.Ala272Ser)
c.70G>T (p.Ala24Ser)
c.910G>T (p.Ala304Ser)
11g.68794869C>GCA381634611CPT1Ac.814G>C (p.Ala272Pro)
c.70G>C (p.Ala24Pro)
c.910G>C (p.Ala304Pro)
11g.68794869C>TCA381634609CPT1Ac.814G>A (p.Ala272Thr)
c.70G>A (p.Ala24Thr)
c.910G>A (p.Ala304Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68794870T>ACA381634614CPT1Ac.813A>T (p.Arg271Ser)
c.69A>T (p.Arg23Ser)
c.909A>T (p.Arg303Ser)
11g.68794870T>CCA475203988CPT1Ac.813A>G (p.Arg271=)
c.69A>G (p.Arg23=)
c.909A>G (p.Arg303=)
11g.68794870T>GCA381634616CPT1Ac.813A>C (p.Arg271Ser)
c.69A>C (p.Arg23Ser)
c.909A>C (p.Arg303Ser)
11g.68794871C>ACA381634618CPT1Ac.812G>T (p.Arg271Ile)
c.68G>T (p.Arg23Ile)
c.908G>T (p.Arg303Ile)
11g.68794871C>GCA381634620CPT1Ac.812G>C (p.Arg271Thr)
c.68G>C (p.Arg23Thr)
c.908G>C (p.Arg303Thr)
COSMIC COSMIC
11g.68794871C>TCA381634623CPT1Ac.812G>A (p.Arg271Lys)
c.68G>A (p.Arg23Lys)
c.908G>A (p.Arg303Lys)
COSMIC COSMIC
11g.68794872T>ACA381634625CPT1Ac.811A>T (p.Arg271Ter)
c.67A>T (p.Arg23Ter)
c.907A>T (p.Arg303Ter)
11g.68794872T>CCA381634626CPT1Ac.811A>G (p.Arg271Gly)
c.67A>G (p.Arg23Gly)
c.907A>G (p.Arg303Gly)
ClinVar
11g.68794872T>GCA475204001CPT1Ac.811A>C (p.Arg271=)
c.67A>C (p.Arg23=)
c.907A>C (p.Arg303=)
11g.68794873T>ACA475204004CPT1Ac.810A>T (p.Ala270=)
c.66A>T (p.Ala22=)
c.906A>T (p.Ala302=)
11g.68794873T>CCA475204007CPT1Ac.810A>G (p.Ala270=)
c.66A>G (p.Ala22=)
c.906A>G (p.Ala302=)
11g.68794873T>GCA475204009CPT1Ac.810A>C (p.Ala270=)
c.66A>C (p.Ala22=)
c.906A>C (p.Ala302=)
11g.68794874G>ACA381634629CPT1Ac.809C>T (p.Ala270Val)
c.65C>T (p.Ala22Val)
c.905C>T (p.Ala302Val)
11g.68794874G>CCA381634632CPT1Ac.809C>G (p.Ala270Gly)
c.65C>G (p.Ala22Gly)
c.905C>G (p.Ala302Gly)
11g.68794874G>TCA381634634CPT1Ac.809C>A (p.Ala270Glu)
c.65C>A (p.Ala22Glu)
c.905C>A (p.Ala302Glu)
11g.68794875C>ACA381634637CPT1Ac.808G>T (p.Ala270Ser)
c.64G>T (p.Ala22Ser)
c.904G>T (p.Ala302Ser)
11g.68794875C>GCA381634640CPT1Ac.808G>C (p.Ala270Pro)
c.64G>C (p.Ala22Pro)
c.904G>C (p.Ala302Pro)
gnomAD v4
11g.68794875C>TCA381634642CPT1Ac.808G>A (p.Ala270Thr)
c.64G>A (p.Ala22Thr)
c.904G>A (p.Ala302Thr)

Number of alleles fetched