Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68794820C>ACA381634470CPT1Ac.863G>T (p.Arg288Leu)
c.119G>T (p.Arg40Leu)
c.959G>T (p.Arg320Leu)
 gnomAD v4
11g.68794820C=CA2581028866CPT1Ac.863G= (p.Arg288=)
c.119G= (p.Arg40=)
c.959G= (p.Arg320=)
11g.68794820C>GCA381634471CPT1Ac.863G>C (p.Arg288Pro)
c.119G>C (p.Arg40Pro)
c.959G>C (p.Arg320Pro)
11g.68794820C>TCA312413CPT1Ac.863G>A (p.Arg288Gln)
c.119G>A (p.Arg40Gln)
c.959G>A (p.Arg320Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794821G>ACA6152504CPT1Ac.862C>T (p.Arg288Trp)
c.118C>T (p.Arg40Trp)
c.958C>T (p.Arg320Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68794821G>CCA381634472CPT1Ac.862C>G (p.Arg288Gly)
c.118C>G (p.Arg40Gly)
c.958C>G (p.Arg320Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68794821G>TCA475203654CPT1Ac.862C>A (p.Arg288=)
c.118C>A (p.Arg40=)
c.958C>A (p.Arg320=)
11g.68794822G>ACA475203659CPT1Ac.861C>T (p.Asp287=)
c.117C>T (p.Asp39=)
c.957C>T (p.Asp319=)
11g.68794822G>CCA381634473CPT1Ac.861C>G (p.Asp287Glu)
c.117C>G (p.Asp39Glu)
c.957C>G (p.Asp319Glu)
11g.68794822G>TCA381634474CPT1Ac.861C>A (p.Asp287Glu)
c.117C>A (p.Asp39Glu)
c.957C>A (p.Asp319Glu)
11g.68794823T>ACA381634475CPT1Ac.860A>T (p.Asp287Val)
c.116A>T (p.Asp39Val)
c.956A>T (p.Asp319Val)
11g.68794823T>CCA381634477CPT1Ac.860A>G (p.Asp287Gly)
c.116A>G (p.Asp39Gly)
c.956A>G (p.Asp319Gly)
11g.68794823T>GCA381634476CPT1Ac.860A>C (p.Asp287Ala)
c.116A>C (p.Asp39Ala)
c.956A>C (p.Asp319Ala)
11g.68794824C>ACA381634478CPT1Ac.859G>T (p.Asp287Tyr)
c.115G>T (p.Asp39Tyr)
c.955G>T (p.Asp319Tyr)
11g.68794824C>GCA381634479CPT1Ac.859G>C (p.Asp287His)
c.115G>C (p.Asp39His)
c.955G>C (p.Asp319His)
11g.68794824C>TCA381634480CPT1Ac.859G>A (p.Asp287Asn)
c.115G>A (p.Asp39Asn)
c.955G>A (p.Asp319Asn)
11g.68794825C>ACA475203672CPT1Ac.858G>T (p.Leu286=)
c.114G>T (p.Leu38=)
c.954G>T (p.Leu318=)
11g.68794825C>GCA475203674CPT1Ac.858G>C (p.Leu286=)
c.114G>C (p.Leu38=)
c.954G>C (p.Leu318=)
11g.68794825C>TCA475203677CPT1Ac.858G>A (p.Leu286=)
c.114G>A (p.Leu38=)
c.954G>A (p.Leu318=)
11g.68794826A>CCA381634481CPT1Ac.857T>G (p.Leu286Arg)
c.113T>G (p.Leu38Arg)
c.953T>G (p.Leu318Arg)
 gnomAD v4
11g.68794826A>GCA381634482CPT1Ac.857T>C (p.Leu286Pro)
c.113T>C (p.Leu38Pro)
c.953T>C (p.Leu318Pro)
11g.68794826A>TCA381634483CPT1Ac.857T>A (p.Leu286Gln)
c.113T>A (p.Leu38Gln)
c.953T>A (p.Leu318Gln)
11g.68794827G>ACA475203686CPT1Ac.856C>T (p.Leu286=)
c.112C>T (p.Leu38=)
c.952C>T (p.Leu318=)
 gnomAD v4
11g.68794827G>CCA381634484CPT1Ac.856C>G (p.Leu286Val)
c.112C>G (p.Leu38Val)
c.952C>G (p.Leu318Val)
 dbSNP gnomAD v4
11g.68794827G>TCA381634485CPT1Ac.856C>A (p.Leu286Met)
c.112C>A (p.Leu38Met)
c.952C>A (p.Leu318Met)
11g.68794828T>ACA381634486CPT1Ac.855A>T (p.Lys285Asn)
c.111A>T (p.Lys37Asn)
c.951A>T (p.Lys317Asn)
11g.68794828T>CCA475203702CPT1Ac.855A>G (p.Lys285=)
c.111A>G (p.Lys37=)
c.951A>G (p.Lys317=)
11g.68794828T>GCA381634487CPT1Ac.855A>C (p.Lys285Asn)
c.111A>C (p.Lys37Asn)
c.951A>C (p.Lys317Asn)
11g.68794829T>ACA381634490CPT1Ac.854A>T (p.Lys285Ile)
c.110A>T (p.Lys37Ile)
c.950A>T (p.Lys317Ile)
11g.68794829T>CCA381634489CPT1Ac.854A>G (p.Lys285Arg)
c.110A>G (p.Lys37Arg)
c.950A>G (p.Lys317Arg)
11g.68794829T>GCA381634488CPT1Ac.854A>C (p.Lys285Thr)
c.110A>C (p.Lys37Thr)
c.950A>C (p.Lys317Thr)
11g.68794830T>ACA381634491CPT1Ac.853A>T (p.Lys285Ter)
c.109A>T (p.Lys37Ter)
c.949A>T (p.Lys317Ter)
11g.68794830T>CCA381634492CPT1Ac.853A>G (p.Lys285Glu)
c.109A>G (p.Lys37Glu)
c.949A>G (p.Lys317Glu)
 dbSNP
11g.68794830T>GCA6152505CPT1Ac.853A>C (p.Lys285Gln)
c.109A>C (p.Lys37Gln)
c.949A>C (p.Lys317Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794831G>ACA475203727CPT1Ac.852C>T (p.Arg284=)
c.108C>T (p.Arg36=)
c.948C>T (p.Arg316=)
11g.68794831G>CCA475203724CPT1Ac.852C>G (p.Arg284=)
c.108C>G (p.Arg36=)
c.948C>G (p.Arg316=)
11g.68794831G>TCA475203720CPT1Ac.852C>A (p.Arg284=)
c.108C>A (p.Arg36=)
c.948C>A (p.Arg316=)
11g.68794832C>ACA381634493CPT1Ac.851G>T (p.Arg284Leu)
c.107G>T (p.Arg36Leu)
c.947G>T (p.Arg316Leu)
 ClinVar gnomAD v4
11g.68794832C=CA2581028867CPT1Ac.851G= (p.Arg284=)
c.107G= (p.Arg36=)
c.947G= (p.Arg316=)
11g.68794832C>GCA381634494CPT1Ac.851G>C (p.Arg284Pro)
c.107G>C (p.Arg36Pro)
c.947G>C (p.Arg316Pro)
11g.68794832C>TCA6152506CPT1Ac.851G>A (p.Arg284His)
c.107G>A (p.Arg36His)
c.947G>A (p.Arg316His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68794833G>ACA6152507CPT1Ac.850C>T (p.Arg284Cys)
c.106C>T (p.Arg36Cys)
c.946C>T (p.Arg316Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794833G>CCA381634495CPT1Ac.850C>G (p.Arg284Gly)
c.106C>G (p.Arg36Gly)
c.946C>G (p.Arg316Gly)
11g.68794833G>TCA6152508CPT1Ac.850C>A (p.Arg284Ser)
c.106C>A (p.Arg36Ser)
c.946C>A (p.Arg316Ser)
 dbSNP ExAC gnomAD v2
11g.68794834C>ACA381634496CPT1Ac.849G>T (p.Arg283Ser)
c.105G>T (p.Arg35Ser)
c.945G>T (p.Arg315Ser)
11g.68794834C>GCA381634497CPT1Ac.849G>C (p.Arg283Ser)
c.105G>C (p.Arg35Ser)
c.945G>C (p.Arg315Ser)
11g.68794834C>TCA223386089CPT1Ac.849G>A (p.Arg283=)
c.105G>A (p.Arg35=)
c.945G>A (p.Arg315=)
 dbSNP
11g.68794835C>ACA381634499CPT1Ac.848G>T (p.Arg283Met)
c.104G>T (p.Arg35Met)
c.944G>T (p.Arg315Met)
11g.68794835C>GCA381634500CPT1Ac.848G>C (p.Arg283Thr)
c.104G>C (p.Arg35Thr)
c.944G>C (p.Arg315Thr)
11g.68794835C>TCA381634498CPT1Ac.848G>A (p.Arg283Lys)
c.104G>A (p.Arg35Lys)
c.944G>A (p.Arg315Lys)
11g.68794836T>ACA381634501CPT1Ac.847A>T (p.Arg283Trp)
c.103A>T (p.Arg35Trp)
c.943A>T (p.Arg315Trp)
11g.68794836T>CCA381634502CPT1Ac.847A>G (p.Arg283Gly)
c.103A>G (p.Arg35Gly)
c.943A>G (p.Arg315Gly)
11g.68794836T>GCA475203755CPT1Ac.847A>C (p.Arg283=)
c.103A>C (p.Arg35=)
c.943A>C (p.Arg315=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68794837G>ACA475203760CPT1Ac.846C>T (p.Tyr282=)
c.102C>T (p.Tyr34=)
c.942C>T (p.Tyr314=)
 gnomAD v4
11g.68794837G>CCA381634503CPT1Ac.846C>G (p.Tyr282Ter)
c.102C>G (p.Tyr34Ter)
c.942C>G (p.Tyr314Ter)
11g.68794837G>TCA381634504CPT1Ac.846C>A (p.Tyr282Ter)
c.102C>A (p.Tyr34Ter)
c.942C>A (p.Tyr314Ter)
11g.68794838T>ACA381634505CPT1Ac.845A>T (p.Tyr282Phe)
c.101A>T (p.Tyr34Phe)
c.941A>T (p.Tyr314Phe)
11g.68794838T>CCA381634506CPT1Ac.845A>G (p.Tyr282Cys)
c.101A>G (p.Tyr34Cys)
c.941A>G (p.Tyr314Cys)
11g.68794838T>GCA381634507CPT1Ac.845A>C (p.Tyr282Ser)
c.101A>C (p.Tyr34Ser)
c.941A>C (p.Tyr314Ser)
11g.68794839A>CCA381634508CPT1Ac.844T>G (p.Tyr282Asp)
c.100T>G (p.Tyr34Asp)
c.940T>G (p.Tyr314Asp)
11g.68794839A>GCA381634509CPT1Ac.844T>C (p.Tyr282His)
c.100T>C (p.Tyr34His)
c.940T>C (p.Tyr314His)
11g.68794839A>TCA381634510CPT1Ac.844T>A (p.Tyr282Asn)
c.100T>A (p.Tyr34Asn)
c.940T>A (p.Tyr314Asn)
11g.68794840A>CCA475203783CPT1Ac.843T>G (p.Leu281=)
c.99T>G (p.Leu33=)
c.939T>G (p.Leu313=)
11g.68794840A>GCA475203787CPT1Ac.843T>C (p.Leu281=)
c.99T>C (p.Leu33=)
c.939T>C (p.Leu313=)
11g.68794840A>TCA475203784CPT1Ac.843T>A (p.Leu281=)
c.99T>A (p.Leu33=)
c.939T>A (p.Leu313=)
11g.68794841A>CCA381634511CPT1Ac.842T>G (p.Leu281Arg)
c.98T>G (p.Leu33Arg)
c.938T>G (p.Leu313Arg)
11g.68794841A>GCA381634512CPT1Ac.842T>C (p.Leu281Pro)
c.98T>C (p.Leu33Pro)
c.938T>C (p.Leu313Pro)
11g.68794841A>TCA381634513CPT1Ac.842T>A (p.Leu281His)
c.98T>A (p.Leu33His)
c.938T>A (p.Leu313His)
11g.68794842G>ACA381634516CPT1Ac.841C>T (p.Leu281Phe)
c.97C>T (p.Leu33Phe)
c.937C>T (p.Leu313Phe)
11g.68794842G>CCA381634515CPT1Ac.841C>G (p.Leu281Val)
c.97C>G (p.Leu33Val)
c.937C>G (p.Leu313Val)
 ClinVar gnomAD v4
11g.68794842G>TCA381634514CPT1Ac.841C>A (p.Leu281Ile)
c.97C>A (p.Leu33Ile)
c.937C>A (p.Leu313Ile)
11g.68794843C>ACA475203801CPT1Ac.840G>T (p.Leu280=)
c.96G>T (p.Leu32=)
c.936G>T (p.Leu312=)
11g.68794843C>GCA475203805CPT1Ac.840G>C (p.Leu280=)
c.96G>C (p.Leu32=)
c.936G>C (p.Leu312=)
11g.68794843C>TCA475203808CPT1Ac.840G>A (p.Leu280=)
c.96G>A (p.Leu32=)
c.936G>A (p.Leu312=)
11g.68794844A>CCA381634517CPT1Ac.839T>G (p.Leu280Arg)
c.95T>G (p.Leu32Arg)
c.935T>G (p.Leu312Arg)
11g.68794844A>GCA381634518CPT1Ac.839T>C (p.Leu280Pro)
c.95T>C (p.Leu32Pro)
c.935T>C (p.Leu312Pro)
 dbSNP
11g.68794844A>TCA381634519CPT1Ac.839T>A (p.Leu280Gln)
c.95T>A (p.Leu32Gln)
c.935T>A (p.Leu312Gln)
 gnomAD v4
11g.68794845G>ACA475203823CPT1Ac.838C>T (p.Leu280=)
c.94C>T (p.Leu32=)
c.934C>T (p.Leu312=)
11g.68794845G>CCA381634520CPT1Ac.838C>G (p.Leu280Val)
c.94C>G (p.Leu32Val)
c.934C>G (p.Leu312Val)
11g.68794845G>TCA381634521CPT1Ac.838C>A (p.Leu280Met)
c.94C>A (p.Leu32Met)
c.934C>A (p.Leu312Met)
11g.68794845_68794846insACA2695214978CPT1Ac.837_838insT (p.Leu280SerfsTer?)
c.93_94insT (p.Leu32SerfsTer?)
c.933_934insT (p.Leu312SerfsTer?)
11g.68794846G>ACA475203826CPT1Ac.837C>T (p.Ile279=)
c.93C>T (p.Ile31=)
c.933C>T (p.Ile311=)
11g.68794846G>CCA381634522CPT1Ac.837C>G (p.Ile279Met)
c.93C>G (p.Ile31Met)
c.933C>G (p.Ile311Met)
11g.68794846G>TCA475203832CPT1Ac.837C>A (p.Ile279=)
c.93C>A (p.Ile31=)
c.933C>A (p.Ile311=)
 gnomAD v4
11g.68794847A>CCA381634523CPT1Ac.836T>G (p.Ile279Ser)
c.92T>G (p.Ile31Ser)
c.932T>G (p.Ile311Ser)
11g.68794847A>GCA381634524CPT1Ac.836T>C (p.Ile279Thr)
c.92T>C (p.Ile31Thr)
c.932T>C (p.Ile311Thr)
11g.68794847A>TCA381634526CPT1Ac.836T>A (p.Ile279Asn)
c.92T>A (p.Ile31Asn)
c.932T>A (p.Ile311Asn)
11g.68794847dupCA6152509CPT1Ac.836dup (p.Leu280ProfsTer?)
c.92dup (p.Leu32ProfsTer?)
c.932dup (p.Leu312ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794848T>ACA381634528CPT1Ac.835A>T (p.Ile279Phe)
c.91A>T (p.Ile31Phe)
c.931A>T (p.Ile311Phe)
11g.68794848T>CCA381634529CPT1Ac.835A>G (p.Ile279Val)
c.91A>G (p.Ile31Val)
c.931A>G (p.Ile311Val)
 dbSNP gnomAD v2 gnomAD v4
11g.68794848T>GCA381634530CPT1Ac.835A>C (p.Ile279Leu)
c.91A>C (p.Ile31Leu)
c.931A>C (p.Ile311Leu)
11g.68794849G>ACA475203854CPT1Ac.834C>T (p.Ala278=)
c.90C>T (p.Ala30=)
c.930C>T (p.Ala310=)
11g.68794849G>CCA475203856CPT1Ac.834C>G (p.Ala278=)
c.90C>G (p.Ala30=)
c.930C>G (p.Ala310=)
11g.68794849G>TCA475203852CPT1Ac.834C>A (p.Ala278=)
c.90C>A (p.Ala30=)
c.930C>A (p.Ala310=)
11g.68794850G>ACA381634533CPT1Ac.833C>T (p.Ala278Val)
c.89C>T (p.Ala30Val)
c.929C>T (p.Ala310Val)
11g.68794850G>CCA381634532CPT1Ac.833C>G (p.Ala278Gly)
c.89C>G (p.Ala30Gly)
c.929C>G (p.Ala310Gly)
11g.68794850G>TCA381634531CPT1Ac.833C>A (p.Ala278Asp)
c.89C>A (p.Ala30Asp)
c.929C>A (p.Ala310Asp)
 dbSNP
11g.68794851C>ACA381634534CPT1Ac.832G>T (p.Ala278Ser)
c.88G>T (p.Ala30Ser)
c.928G>T (p.Ala310Ser)
11g.68794851C>GCA381634535CPT1Ac.832G>C (p.Ala278Pro)
c.88G>C (p.Ala30Pro)
c.928G>C (p.Ala310Pro)
11g.68794851C>TCA6152510CPT1Ac.832G>A (p.Ala278Thr)
c.88G>A (p.Ala30Thr)
c.928G>A (p.Ala310Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794852A>CCA381634536CPT1Ac.831T>G (p.His277Gln)
c.87T>G (p.His29Gln)
c.927T>G (p.His309Gln)
11g.68794852A>GCA475203870CPT1Ac.831T>C (p.His277=)
c.87T>C (p.His29=)
c.927T>C (p.His309=)
11g.68794852A>TCA381634537CPT1Ac.831T>A (p.His277Gln)
c.87T>A (p.His29Gln)
c.927T>A (p.His309Gln)
11g.68794853T>ACA381634538CPT1Ac.830A>T (p.His277Leu)
c.86A>T (p.His29Leu)
c.926A>T (p.His309Leu)
11g.68794853T>CCA381634539CPT1Ac.830A>G (p.His277Arg)
c.86A>G (p.His29Arg)
c.926A>G (p.His309Arg)
 gnomAD v4
11g.68794853T>GCA381634540CPT1Ac.830A>C (p.His277Pro)
c.86A>C (p.His29Pro)
c.926A>C (p.His309Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.68794854G>ACA381634541CPT1Ac.829C>T (p.His277Tyr)
c.85C>T (p.His29Tyr)
c.925C>T (p.His309Tyr)
 gnomAD v4
11g.68794854G>CCA381634543CPT1Ac.829C>G (p.His277Asp)
c.85C>G (p.His29Asp)
c.925C>G (p.His309Asp)
11g.68794854G>TCA381634545CPT1Ac.829C>A (p.His277Asn)
c.85C>A (p.His29Asn)
c.925C>A (p.His309Asn)
11g.68794855G>ACA475203897CPT1Ac.828C>T (p.Ile276=)
c.84C>T (p.Ile28=)
c.924C>T (p.Ile308=)
11g.68794855G>CCA381634547CPT1Ac.828C>G (p.Ile276Met)
c.84C>G (p.Ile28Met)
c.924C>G (p.Ile308Met)
11g.68794855G>TCA475203902CPT1Ac.828C>A (p.Ile276=)
c.84C>A (p.Ile28=)
c.924C>A (p.Ile308=)
11g.68794856A>CCA381634549CPT1Ac.827T>G (p.Ile276Ser)
c.83T>G (p.Ile28Ser)
c.923T>G (p.Ile308Ser)
11g.68794856A>GCA381634551CPT1Ac.827T>C (p.Ile276Thr)
c.83T>C (p.Ile28Thr)
c.923T>C (p.Ile308Thr)
11g.68794856A>TCA381634553CPT1Ac.827T>A (p.Ile276Asn)
c.83T>A (p.Ile28Asn)
c.923T>A (p.Ile308Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.68794857T>ACA381634555CPT1Ac.826A>T (p.Ile276Phe)
c.82A>T (p.Ile28Phe)
c.922A>T (p.Ile308Phe)
11g.68794857T>CCA381634559CPT1Ac.826A>G (p.Ile276Val)
c.82A>G (p.Ile28Val)
c.922A>G (p.Ile308Val)
 dbSNP gnomAD v3 gnomAD v4
11g.68794857T>GCA381634557CPT1Ac.826A>C (p.Ile276Leu)
c.82A>C (p.Ile28Leu)
c.922A>C (p.Ile308Leu)
11g.68794858G>ACA6152511CPT1Ac.825C>T (p.Ala275=)
c.81C>T (p.Ala27=)
c.921C>T (p.Ala307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794858G>CCA475203916CPT1Ac.825C>G (p.Ala275=)
c.81C>G (p.Ala27=)
c.921C>G (p.Ala307=)
11g.68794858G>TCA475203918CPT1Ac.825C>A (p.Ala275=)
c.81C>A (p.Ala27=)
c.921C>A (p.Ala307=)
 gnomAD v4
11g.68794859G>ACA381634562CPT1Ac.824C>T (p.Ala275Val)
c.80C>T (p.Ala27Val)
c.920C>T (p.Ala307Val)
 dbSNP gnomAD v2 gnomAD v4
11g.68794859G>CCA381634565CPT1Ac.824C>G (p.Ala275Gly)
c.80C>G (p.Ala27Gly)
c.920C>G (p.Ala307Gly)
11g.68794859G>TCA381634567CPT1Ac.824C>A (p.Ala275Asp)
c.80C>A (p.Ala27Asp)
c.920C>A (p.Ala307Asp)
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)
11g.68794876T>ACA475204024CPT1Ac.807A>T (p.Ala269=)
c.63A>T (p.Ala21=)
c.903A>T (p.Ala301=)
11g.68794876T>CCA475204026CPT1Ac.807A>G (p.Ala269=)
c.63A>G (p.Ala21=)
c.903A>G (p.Ala301=)
11g.68794876T>GCA475204027CPT1Ac.807A>C (p.Ala269=)
c.63A>C (p.Ala21=)
c.903A>C (p.Ala301=)
11g.68794877G>ACA381634652CPT1Ac.806C>T (p.Ala269Val)
c.62C>T (p.Ala21Val)
c.902C>T (p.Ala301Val)
 gnomAD v4
11g.68794877G>CCA381634645CPT1Ac.806C>G (p.Ala269Gly)
c.62C>G (p.Ala21Gly)
c.902C>G (p.Ala301Gly)
11g.68794877G>TCA381634646CPT1Ac.806C>A (p.Ala269Glu)
c.62C>A (p.Ala21Glu)
c.902C>A (p.Ala301Glu)
11g.68794878C>ACA381634654CPT1Ac.805G>T (p.Ala269Ser)
c.61G>T (p.Ala21Ser)
c.901G>T (p.Ala301Ser)
 dbSNP
11g.68794878C>GCA381634658CPT1Ac.805G>C (p.Ala269Pro)
c.61G>C (p.Ala21Pro)
c.901G>C (p.Ala301Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68794878C>TCA381634656CPT1Ac.805G>A (p.Ala269Thr)
c.61G>A (p.Ala21Thr)
c.901G>A (p.Ala301Thr)
11g.68794879C>ACA381634660CPT1Ac.804G>T (p.Gln268His)
c.60G>T (p.Gln20His)
c.900G>T (p.Gln300His)
11g.68794879C>GCA381634661CPT1Ac.804G>C (p.Gln268His)
c.60G>C (p.Gln20His)
c.900G>C (p.Gln300His)
11g.68794879C>TCA475204046CPT1Ac.804G>A (p.Gln268=)
c.60G>A (p.Gln20=)
c.900G>A (p.Gln300=)
 ClinVar
11g.68794880T>ACA381634663CPT1Ac.803A>T (p.Gln268Leu)
c.59A>T (p.Gln20Leu)
c.899A>T (p.Gln300Leu)
11g.68794880T>CCA381634667CPT1Ac.803A>G (p.Gln268Arg)
c.59A>G (p.Gln20Arg)
c.899A>G (p.Gln300Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.68794880T>GCA381634665CPT1Ac.803A>C (p.Gln268Pro)
c.59A>C (p.Gln20Pro)
c.899A>C (p.Gln300Pro)
11g.68794881G>ACA381634668CPT1Ac.802C>T (p.Gln268Ter)
c.58C>T (p.Gln20Ter)
c.898C>T (p.Gln300Ter)
11g.68794881G>CCA381634670CPT1Ac.802C>G (p.Gln268Glu)
c.58C>G (p.Gln20Glu)
c.898C>G (p.Gln300Glu)
11g.68794881G>TCA381634669CPT1Ac.802C>A (p.Gln268Lys)
c.58C>A (p.Gln20Lys)
c.898C>A (p.Gln300Lys)
11g.68794882A>CCA381634672CPT1Ac.801T>G (p.Ile267Met)
c.57T>G (p.Ile19Met)
c.897T>G (p.Ile299Met)
 dbSNP gnomAD v2 gnomAD v4
11g.68794882A>GCA475204061CPT1Ac.801T>C (p.Ile267=)
c.57T>C (p.Ile19=)
c.897T>C (p.Ile299=)
11g.68794882A>TCA475204062CPT1Ac.801T>A (p.Ile267=)
c.57T>A (p.Ile19=)
c.897T>A (p.Ile299=)
11g.68794883A>CCA381634674CPT1Ac.800T>G (p.Ile267Ser)
c.56T>G (p.Ile19Ser)
c.896T>G (p.Ile299Ser)
11g.68794883A>GCA381634675CPT1Ac.800T>C (p.Ile267Thr)
c.56T>C (p.Ile19Thr)
c.896T>C (p.Ile299Thr)
11g.68794883A>TCA381634676CPT1Ac.800T>A (p.Ile267Asn)
c.56T>A (p.Ile19Asn)
c.896T>A (p.Ile299Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.68794884T>ACA381634679CPT1Ac.799A>T (p.Ile267Phe)
c.55A>T (p.Ile19Phe)
c.895A>T (p.Ile299Phe)
11g.68794884T>CCA381634681CPT1Ac.799A>G (p.Ile267Val)
c.55A>G (p.Ile19Val)
c.895A>G (p.Ile299Val)
 gnomAD v4
11g.68794884T>GCA381634682CPT1Ac.799A>C (p.Ile267Leu)
c.55A>C (p.Ile19Leu)
c.895A>C (p.Ile299Leu)
11g.68794885G>ACA6152515CPT1Ac.798C>T (p.His266=)
c.54C>T (p.His18=)
c.894C>T (p.His298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794885G>CCA381634686CPT1Ac.798C>G (p.His266Gln)
c.54C>G (p.His18Gln)
c.894C>G (p.His298Gln)
11g.68794885G>TCA381634688CPT1Ac.798C>A (p.His266Gln)
c.54C>A (p.His18Gln)
c.894C>A (p.His298Gln)
11g.68794886T>ACA381634692CPT1Ac.797A>T (p.His266Leu)
c.53A>T (p.His18Leu)
c.893A>T (p.His298Leu)
11g.68794886T>CCA381634694CPT1Ac.797A>G (p.His266Arg)
c.53A>G (p.His18Arg)
c.893A>G (p.His298Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68794886T>GCA381634696CPT1Ac.797A>C (p.His266Pro)
c.53A>C (p.His18Pro)
c.893A>C (p.His298Pro)
11g.68794887G>ACA6152516CPT1Ac.796C>T (p.His266Tyr)
c.52C>T (p.His18Tyr)
c.892C>T (p.His298Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68794887G>CCA381634699CPT1Ac.796C>G (p.His266Asp)
c.52C>G (p.His18Asp)
c.892C>G (p.His298Asp)
11g.68794887G>TCA381634701CPT1Ac.796C>A (p.His266Asn)
c.52C>A (p.His18Asn)
c.892C>A (p.His298Asn)
11g.68794888A>CCA475204065CPT1Ac.795T>G (p.Thr265=)
c.51T>G (p.Thr17=)
c.891T>G (p.Thr297=)
11g.68794888A>GCA475204067CPT1Ac.795T>C (p.Thr265=)
c.51T>C (p.Thr17=)
c.891T>C (p.Thr297=)
 ClinVar dbSNP
11g.68794888A>TCA475204068CPT1Ac.795T>A (p.Thr265=)
c.51T>A (p.Thr17=)
c.891T>A (p.Thr297=)
11g.68794889G>ACA381634703CPT1Ac.794C>T (p.Thr265Ile)
c.50C>T (p.Thr17Ile)
c.890C>T (p.Thr297Ile)
11g.68794889G>CCA381634705CPT1Ac.794C>G (p.Thr265Ser)
c.50C>G (p.Thr17Ser)
c.890C>G (p.Thr297Ser)
11g.68794889G>TCA381634704CPT1Ac.794C>A (p.Thr265Asn)
c.50C>A (p.Thr17Asn)
c.890C>A (p.Thr297Asn)
11g.68794890T>ACA381634708CPT1Ac.793A>T (p.Thr265Ser)
c.49A>T (p.Thr17Ser)
c.889A>T (p.Thr297Ser)
11g.68794890T>CCA381634709CPT1Ac.793A>G (p.Thr265Ala)
c.49A>G (p.Thr17Ala)
c.889A>G (p.Thr297Ala)
11g.68794890T>GCA381634711CPT1Ac.793A>C (p.Thr265Pro)
c.49A>C (p.Thr17Pro)
c.889A>C (p.Thr297Pro)
11g.68794891T>ACA475204070CPT1Ac.792A>T (p.Pro264=)
c.48A>T (p.Pro16=)
c.888A>T (p.Pro296=)
11g.68794891T>CCA475204072CPT1Ac.792A>G (p.Pro264=)
c.48A>G (p.Pro16=)
c.888A>G (p.Pro296=)
 ClinVar
11g.68794891T>GCA475204071CPT1Ac.792A>C (p.Pro264=)
c.48A>C (p.Pro16=)
c.888A>C (p.Pro296=)
11g.68794892G>ACA381634713CPT1Ac.791C>T (p.Pro264Leu)
c.47C>T (p.Pro16Leu)
c.887C>T (p.Pro296Leu)
 COSMIC
11g.68794892G>CCA381634715CPT1Ac.791C>G (p.Pro264Arg)
c.47C>G (p.Pro16Arg)
c.887C>G (p.Pro296Arg)
11g.68794892G>TCA381634716CPT1Ac.791C>A (p.Pro264Gln)
c.47C>A (p.Pro16Gln)
c.887C>A (p.Pro296Gln)
11g.68794893G>ACA381634718CPT1Ac.790C>T (p.Pro264Ser)
c.46C>T (p.Pro16Ser)
c.886C>T (p.Pro296Ser)
11g.68794893G>CCA381634721CPT1Ac.790C>G (p.Pro264Ala)
c.46C>G (p.Pro16Ala)
c.886C>G (p.Pro296Ala)
11g.68794893G>TCA381634723CPT1Ac.790C>A (p.Pro264Thr)
c.46C>A (p.Pro16Thr)
c.886C>A (p.Pro296Thr)
11g.68794894A>CCA475204076CPT1Ac.789T>G (p.Leu263=)
c.45T>G (p.Leu15=)
c.885T>G (p.Leu295=)
11g.68794894A>GCA475204078CPT1Ac.789T>C (p.Leu263=)
c.45T>C (p.Leu15=)
c.885T>C (p.Leu295=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68794894A>TCA475204079CPT1Ac.789T>A (p.Leu263=)
c.45T>A (p.Leu15=)
c.885T>A (p.Leu295=)
11g.68794895A>CCA381634725CPT1Ac.788T>G (p.Leu263Arg)
c.44T>G (p.Leu15Arg)
c.884T>G (p.Leu295Arg)
11g.68794895A>GCA381634727CPT1Ac.788T>C (p.Leu263Pro)
c.44T>C (p.Leu15Pro)
c.884T>C (p.Leu295Pro)
11g.68794895A>TCA381634729CPT1Ac.788T>A (p.Leu263His)
c.44T>A (p.Leu15His)
c.884T>A (p.Leu295His)
11g.68794896G>ACA381634731CPT1Ac.787C>T (p.Leu263Phe)
c.43C>T (p.Leu15Phe)
c.883C>T (p.Leu295Phe)
 COSMIC
11g.68794896G>CCA381634736CPT1Ac.787C>G (p.Leu263Val)
c.43C>G (p.Leu15Val)
c.883C>G (p.Leu295Val)
11g.68794896G>TCA381634734CPT1Ac.787C>A (p.Leu263Ile)
c.43C>A (p.Leu15Ile)
c.883C>A (p.Leu295Ile)
11g.68794897G>ACA475204082CPT1Ac.786C>T (p.Ile262=)
c.42C>T (p.Ile14=)
c.882C>T (p.Ile294=)
11g.68794897G>CCA381634737CPT1Ac.786C>G (p.Ile262Met)
c.42C>G (p.Ile14Met)
c.882C>G (p.Ile294Met)
11g.68794897G>TCA475204083CPT1Ac.786C>A (p.Ile262=)
c.42C>A (p.Ile14=)
c.882C>A (p.Ile294=)
 dbSNP
11g.68794898A>CCA381634738CPT1Ac.785T>G (p.Ile262Ser)
c.41T>G (p.Ile14Ser)
c.881T>G (p.Ile294Ser)
11g.68794898A>GCA381634739CPT1Ac.785T>C (p.Ile262Thr)
c.41T>C (p.Ile14Thr)
c.881T>C (p.Ile294Thr)
 dbSNP
11g.68794898A>TCA381634742CPT1Ac.785T>A (p.Ile262Asn)
c.41T>A (p.Ile14Asn)
c.881T>A (p.Ile294Asn)
11g.68794899T>ACA381634745CPT1Ac.784A>T (p.Ile262Phe)
c.40A>T (p.Ile14Phe)
c.880A>T (p.Ile294Phe)
11g.68794899T>CCA381634746CPT1Ac.784A>G (p.Ile262Val)
c.40A>G (p.Ile14Val)
c.880A>G (p.Ile294Val)
11g.68794899T>GCA381634747CPT1Ac.784A>C (p.Ile262Leu)
c.40A>C (p.Ile14Leu)
c.880A>C (p.Ile294Leu)
11g.68794900A>CCA381634748CPT1Ac.783T>G (p.Tyr261Ter)
c.39T>G (p.Tyr13Ter)
c.879T>G (p.Tyr293Ter)
11g.68794900A>GCA475204085CPT1Ac.783T>C (p.Tyr261=)
c.39T>C (p.Tyr13=)
c.879T>C (p.Tyr293=)
 dbSNP gnomAD v2 gnomAD v4
11g.68794900A>TCA381634749CPT1Ac.783T>A (p.Tyr261Ter)
c.39T>A (p.Tyr13Ter)
c.879T>A (p.Tyr293Ter)
 ClinVar
11g.68794901T>ACA381634750CPT1Ac.782A>T (p.Tyr261Phe)
c.38A>T (p.Tyr13Phe)
c.878A>T (p.Tyr293Phe)
11g.68794901T>CCA381634751CPT1Ac.782A>G (p.Tyr261Cys)
c.38A>G (p.Tyr13Cys)
c.878A>G (p.Tyr293Cys)
11g.68794901T>GCA381634752CPT1Ac.782A>C (p.Tyr261Ser)
c.38A>C (p.Tyr13Ser)
c.878A>C (p.Tyr293Ser)
11g.68794902A>CCA381634755CPT1Ac.781T>G (p.Tyr261Asp)
c.37T>G (p.Tyr13Asp)
c.877T>G (p.Tyr293Asp)
11g.68794902A>GCA381634754CPT1Ac.781T>C (p.Tyr261His)
c.37T>C (p.Tyr13His)
c.877T>C (p.Tyr293His)
11g.68794902A>TCA381634753CPT1Ac.781T>A (p.Tyr261Asn)
c.37T>A (p.Tyr13Asn)
c.877T>A (p.Tyr293Asn)
11g.68794903C>ACA475204086CPT1Ac.780G>T (p.Leu260=)
c.36G>T (p.Leu12=)
c.876G>T (p.Leu292=)
11g.68794903C>GCA475204087CPT1Ac.780G>C (p.Leu260=)
c.36G>C (p.Leu12=)
c.876G>C (p.Leu292=)
11g.68794903C>TCA475204088CPT1Ac.780G>A (p.Leu260=)
c.36G>A (p.Leu12=)
c.876G>A (p.Leu292=)
 gnomAD v4
11g.68794904A>CCA381634756CPT1Ac.779T>G (p.Leu260Arg)
c.35T>G (p.Leu12Arg)
c.875T>G (p.Leu292Arg)
11g.68794904A>GCA381634757CPT1Ac.779T>C (p.Leu260Pro)
c.35T>C (p.Leu12Pro)
c.875T>C (p.Leu292Pro)
11g.68794904A>TCA381634758CPT1Ac.779T>A (p.Leu260Gln)
c.35T>A (p.Leu12Gln)
c.875T>A (p.Leu292Gln)
 gnomAD v4
11g.68794905G>ACA475204089CPT1Ac.778C>T (p.Leu260=)
c.34C>T (p.Leu12=)
c.874C>T (p.Leu292=)
11g.68794905G>CCA381634759CPT1Ac.778C>G (p.Leu260Val)
c.34C>G (p.Leu12Val)
c.874C>G (p.Leu292Val)
11g.68794905G>TCA381634760CPT1Ac.778C>A (p.Leu260Met)
c.34C>A (p.Leu12Met)
c.874C>A (p.Leu292Met)
11g.68794906C>ACA475204090CPT1Ac.777G>T (p.Leu259=)
c.33G>T (p.Leu11=)
c.873G>T (p.Leu291=)
11g.68794906C>GCA475204091CPT1Ac.777G>C (p.Leu259=)
c.33G>C (p.Leu11=)
c.873G>C (p.Leu291=)
11g.68794906C>TCA475204092CPT1Ac.777G>A (p.Leu259=)
c.33G>A (p.Leu11=)
c.873G>A (p.Leu291=)
 gnomAD v4
11g.68794907A>CCA381634761CPT1Ac.776T>G (p.Leu259Arg)
c.32T>G (p.Leu11Arg)
c.872T>G (p.Leu291Arg)
11g.68794907A>GCA381634762CPT1Ac.776T>C (p.Leu259Pro)
c.32T>C (p.Leu11Pro)
c.872T>C (p.Leu291Pro)
11g.68794907A>TCA381634763CPT1Ac.776T>A (p.Leu259Gln)
c.32T>A (p.Leu11Gln)
c.872T>A (p.Leu291Gln)
11g.68794908G>ACA475204093CPT1Ac.775C>T (p.Leu259=)
c.31C>T (p.Leu11=)
c.871C>T (p.Leu291=)
 ClinVar dbSNP
11g.68794908G>CCA381634764CPT1Ac.775C>G (p.Leu259Val)
c.31C>G (p.Leu11Val)
c.871C>G (p.Leu291Val)
11g.68794908G>TCA381634765CPT1Ac.775C>A (p.Leu259Met)
c.31C>A (p.Leu11Met)
c.871C>A (p.Leu291Met)
11g.68794909A>CCA381634766CPT1Ac.774T>G (p.Asp258Glu)
c.30T>G (p.Asp10Glu)
c.870T>G (p.Asp290Glu)
11g.68794909A>GCA475204094CPT1Ac.774T>C (p.Asp258=)
c.30T>C (p.Asp10=)
c.870T>C (p.Asp290=)
 gnomAD v4
11g.68794909A>TCA381634767CPT1Ac.774T>A (p.Asp258Glu)
c.30T>A (p.Asp10Glu)
c.870T>A (p.Asp290Glu)
11g.68794910T>ACA381634768CPT1Ac.773A>T (p.Asp258Val)
c.29A>T (p.Asp10Val)
c.869A>T (p.Asp290Val)
11g.68794910T>CCA381634770CPT1Ac.773A>G (p.Asp258Gly)
c.29A>G (p.Asp10Gly)
c.869A>G (p.Asp290Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.68794910T>GCA381634769CPT1Ac.773A>C (p.Asp258Ala)
c.29A>C (p.Asp10Ala)
c.869A>C (p.Asp290Ala)
11g.68794911C>ACA381634771CPT1Ac.772G>T (p.Asp258Tyr)
c.28G>T (p.Asp10Tyr)
c.868G>T (p.Asp290Tyr)
 ClinVar
11g.68794911C>GCA381634773CPT1Ac.772G>C (p.Asp258His)
c.28G>C (p.Asp10His)
c.868G>C (p.Asp290His)
11g.68794911C>TCA381634772CPT1Ac.772G>A (p.Asp258Asn)
c.28G>A (p.Asp10Asn)
c.868G>A (p.Asp290Asn)
11g.68794912C>ACA381634774CPT1Ac.772-1G>T (n.772-1G>T)
c.28-1G>T (n.28-1G>T)
c.868-1G>T (n.868-1G>T)
11g.68794912C>GCA381634775CPT1Ac.772-1G>C (n.772-1G>C)
c.28-1G>C (n.28-1G>C)
c.868-1G>C (n.868-1G>C)
11g.68794912C>TCA381634776CPT1Ac.772-1G>A (n.772-1G>A)
c.28-1G>A (n.28-1G>A)
c.868-1G>A (n.868-1G>A)
 ClinVar dbSNP gnomAD v4
11g.68794913T>ACA381634777CPT1Ac.772-2A>T (n.772-2A>T)
c.28-2A>T (n.28-2A>T)
c.868-2A>T (n.868-2A>T)
11g.68794913T>CCA16041540CPT1Ac.772-2A>G (n.772-2A>G)
c.28-2A>G (n.28-2A>G)
c.868-2A>G (n.868-2A>G)
 ClinVar dbSNP
11g.68794913T>GCA381634778CPT1Ac.772-2A>C (n.772-2A>C)
c.28-2A>C (n.28-2A>C)
c.868-2A>C (n.868-2A>C)
11g.68794914G>TCA645580008CPT1Ac.772-3C>A (n.772-3C>A)
c.28-3C>A (n.28-3C>A)
c.868-3C>A (n.868-3C>A)
 COSMIC COSMIC
11g.68794918A>GCA939203443CPT1Ac.772-7T>C (n.772-7T>C)
c.28-7T>C (n.28-7T>C)
c.868-7T>C (n.868-7T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68794919G>ACA6152517CPT1Ac.772-8C>T (n.772-8C>T)
c.28-8C>T (n.28-8C>T)
c.868-8C>T (n.868-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68794919G>CCA2580084962CPT1Ac.772-8C>G (n.772-8C>G)
c.28-8C>G (n.28-8C>G)
c.868-8C>G (n.868-8C>G)
 ClinVar
11g.68794920C>ACA2573147544CPT1Ac.772-9G>T (n.772-9G>T)
c.28-9G>T (n.28-9G>T)
c.868-9G>T (n.868-9G>T)
 ClinVar dbSNP
11g.68794920C>TCA223386169CPT1Ac.772-9G>A (n.772-9G>A)
c.28-9G>A (n.28-9G>A)
c.868-9G>A (n.868-9G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched