Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68793305C>ACA2614737039CPT1Ac.967+10G>T (n.967+10G>T)
c.223+10G>T (n.223+10G>T)
c.1063+10G>T (n.1063+10G>T)
 gnomAD v4
11g.68793305C>GCA6152470CPT1Ac.967+10G>C (n.967+10G>C)
c.223+10G>C (n.223+10G>C)
c.1063+10G>C (n.1063+10G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793305C>TCA6152469CPT1Ac.967+10G>A (n.967+10G>A)
c.223+10G>A (n.223+10G>A)
c.1063+10G>A (n.1063+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793306T>CCA6152471CPT1Ac.967+9A>G (n.967+9A>G)
c.223+9A>G (n.223+9A>G)
c.1063+9A>G (n.1063+9A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793307T>CCA6152472CPT1Ac.967+8A>G (n.967+8A>G)
c.223+8A>G (n.223+8A>G)
c.1063+8A>G (n.1063+8A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793308G>ACA2574903322CPT1Ac.967+7C>T (n.967+7C>T)
c.223+7C>T (n.223+7C>T)
c.1063+7C>T (n.1063+7C>T)
11g.68793308G>TCA2614737051CPT1Ac.967+7C>A (n.967+7C>A)
c.223+7C>A (n.223+7C>A)
c.1063+7C>A (n.1063+7C>A)
 gnomAD v4
11g.68793309A>GCA2724287870CPT1Ac.967+6T>C (n.967+6T>C)
c.223+6T>C (n.223+6T>C)
c.1063+6T>C (n.1063+6T>C)
 dbSNP
11g.68793309A>TCA2614737052CPT1Ac.967+6T>A (n.967+6T>A)
c.223+6T>A (n.223+6T>A)
c.1063+6T>A (n.1063+6T>A)
 gnomAD v4
11g.68793312C>ACA2581028864CPT1Ac.967+3G>T (n.967+3G>T)
c.223+3G>T (n.223+3G>T)
c.1063+3G>T (n.1063+3G>T)
11g.68793312C=CA2581028865CPT1Ac.967+3G= (n.967+3G=)
c.223+3G= (n.223+3G=)
c.1063+3G= (n.1063+3G=)
11g.68793312C>GCA2581028863CPT1Ac.967+3G>C (n.967+3G>C)
c.223+3G>C (n.223+3G>C)
c.1063+3G>C (n.1063+3G>C)
11g.68793312C>TCA285506CPT1Ac.967+3G>A (n.967+3G>A)
c.223+3G>A (n.223+3G>A)
c.1063+3G>A (n.1063+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793313A>CCA381634131CPT1Ac.967+2T>G (n.967+2T>G)
c.223+2T>G (n.223+2T>G)
c.1063+2T>G (n.1063+2T>G)
11g.68793313A>GCA381634132CPT1Ac.967+2T>C (n.967+2T>C)
c.223+2T>C (n.223+2T>C)
c.1063+2T>C (n.1063+2T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68793313A>TCA381634133CPT1Ac.967+2T>A (n.967+2T>A)
c.223+2T>A (n.223+2T>A)
c.1063+2T>A (n.1063+2T>A)
11g.68793314C>ACA381634135CPT1Ac.967+1G>T (n.967+1G>T)
c.223+1G>T (n.223+1G>T)
c.1063+1G>T (n.1063+1G>T)
11g.68793314C>GCA381634134CPT1Ac.967+1G>C (n.967+1G>C)
c.223+1G>C (n.223+1G>C)
c.1063+1G>C (n.1063+1G>C)
11g.68793314C>TCA16041538CPT1Ac.967+1G>A (n.967+1G>A)
c.223+1G>A (n.223+1G>A)
c.1063+1G>A (n.1063+1G>A)
 ClinVar dbSNP gnomAD v4
11g.68793315C>ACA381634136CPT1Ac.967G>T (p.Asp323Tyr)
c.223G>T (p.Asp75Tyr)
c.1063G>T (p.Asp355Tyr)
11g.68793315C>GCA381634137CPT1Ac.967G>C (p.Asp323His)
c.223G>C (p.Asp75His)
c.1063G>C (p.Asp355His)
11g.68793315C>TCA381634138CPT1Ac.967G>A (p.Asp323Asn)
c.223G>A (p.Asp75Asn)
c.1063G>A (p.Asp355Asn)
11g.68793316T>ACA475201890CPT1Ac.966A>T (p.Thr322=)
c.222A>T (p.Thr74=)
c.1062A>T (p.Thr354=)
 gnomAD v4
11g.68793316T>CCA475201895CPT1Ac.966A>G (p.Thr322=)
c.222A>G (p.Thr74=)
c.1062A>G (p.Thr354=)
 gnomAD v4
11g.68793316T>GCA475201897CPT1Ac.966A>C (p.Thr322=)
c.222A>C (p.Thr74=)
c.1062A>C (p.Thr354=)
 gnomAD v4
11g.68793317G>ACA381634139CPT1Ac.965C>T (p.Thr322Ile)
c.221C>T (p.Thr74Ile)
c.1061C>T (p.Thr354Ile)
11g.68793317G>CCA381634140CPT1Ac.965C>G (p.Thr322Arg)
c.221C>G (p.Thr74Arg)
c.1061C>G (p.Thr354Arg)
11g.68793317G>TCA381634141CPT1Ac.965C>A (p.Thr322Lys)
c.221C>A (p.Thr74Lys)
c.1061C>A (p.Thr354Lys)
 gnomAD v4
11g.68793318T>ACA381634142CPT1Ac.964A>T (p.Thr322Ser)
c.220A>T (p.Thr74Ser)
c.1060A>T (p.Thr354Ser)
 gnomAD v4
11g.68793318T>CCA381634143CPT1Ac.964A>G (p.Thr322Ala)
c.220A>G (p.Thr74Ala)
c.1060A>G (p.Thr354Ala)
11g.68793318T>GCA381634144CPT1Ac.964A>C (p.Thr322Pro)
c.220A>C (p.Thr74Pro)
c.1060A>C (p.Thr354Pro)
11g.68793319C>ACA381634145CPT1Ac.963G>T (p.Glu321Asp)
c.219G>T (p.Glu73Asp)
c.1059G>T (p.Glu353Asp)
11g.68793319C=CA2497029511CPT1Ac.963G= (p.Glu321=)
c.219G= (p.Glu73=)
c.1059G= (p.Glu353=)
11g.68793319C>GCA381634146CPT1Ac.963G>C (p.Glu321Asp)
c.219G>C (p.Glu73Asp)
c.1059G>C (p.Glu353Asp)
11g.68793319C>TCA285503CPT1Ac.963G>A (p.Glu321=)
c.219G>A (p.Glu73=)
c.1059G>A (p.Glu353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793320T>ACA381634149CPT1Ac.962A>T (p.Glu321Val)
c.218A>T (p.Glu73Val)
c.1058A>T (p.Glu353Val)
11g.68793320T>CCA381634147CPT1Ac.962A>G (p.Glu321Gly)
c.218A>G (p.Glu73Gly)
c.1058A>G (p.Glu353Gly)
11g.68793320T>GCA381634148CPT1Ac.962A>C (p.Glu321Ala)
c.218A>C (p.Glu73Ala)
c.1058A>C (p.Glu353Ala)
11g.68793321C>ACA381634150CPT1Ac.961G>T (p.Glu321Ter)
c.217G>T (p.Glu73Ter)
c.1057G>T (p.Glu353Ter)
11g.68793321C>GCA381634151CPT1Ac.961G>C (p.Glu321Gln)
c.217G>C (p.Glu73Gln)
c.1057G>C (p.Glu353Gln)
11g.68793321C>TCA6152473CPT1Ac.961G>A (p.Glu321Lys)
c.217G>A (p.Glu73Lys)
c.1057G>A (p.Glu353Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793322C>ACA381634152CPT1Ac.960G>T (p.Glu320Asp)
c.216G>T (p.Glu72Asp)
c.1056G>T (p.Glu352Asp)
11g.68793322C>GCA381634153CPT1Ac.960G>C (p.Glu320Asp)
c.216G>C (p.Glu72Asp)
c.1056G>C (p.Glu352Asp)
11g.68793322C>TCA475201927CPT1Ac.960G>A (p.Glu320=)
c.216G>A (p.Glu72=)
c.1056G>A (p.Glu352=)
 gnomAD v4
11g.68793323T>ACA381634154CPT1Ac.959A>T (p.Glu320Val)
c.215A>T (p.Glu72Val)
c.1055A>T (p.Glu352Val)
11g.68793323T>CCA381634155CPT1Ac.959A>G (p.Glu320Gly)
c.215A>G (p.Glu72Gly)
c.1055A>G (p.Glu352Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793323T>GCA381634156CPT1Ac.959A>C (p.Glu320Ala)
c.215A>C (p.Glu72Ala)
c.1055A>C (p.Glu352Ala)
11g.68793324C>ACA381634157CPT1Ac.958G>T (p.Glu320Ter)
c.214G>T (p.Glu72Ter)
c.1054G>T (p.Glu352Ter)
 gnomAD v4
11g.68793324C>GCA381634158CPT1Ac.958G>C (p.Glu320Gln)
c.214G>C (p.Glu72Gln)
c.1054G>C (p.Glu352Gln)
11g.68793324C>TCA381634159CPT1Ac.958G>A (p.Glu320Lys)
c.214G>A (p.Glu72Lys)
c.1054G>A (p.Glu352Lys)
11g.68793325T>ACA475201948CPT1Ac.957A>T (p.Gly319=)
c.213A>T (p.Gly71=)
c.1053A>T (p.Gly351=)
11g.68793325T>CCA6152474CPT1Ac.957A>G (p.Gly319=)
c.213A>G (p.Gly71=)
c.1053A>G (p.Gly351=)
 ClinVar dbSNP ExAC gnomAD v2
11g.68793325T>GCA475201951CPT1Ac.957A>C (p.Gly319=)
c.213A>C (p.Gly71=)
c.1053A>C (p.Gly351=)
11g.68793326C>ACA381634161CPT1Ac.956G>T (p.Gly319Val)
c.212G>T (p.Gly71Val)
c.1052G>T (p.Gly351Val)
11g.68793326C>GCA381634162CPT1Ac.956G>C (p.Gly319Ala)
c.212G>C (p.Gly71Ala)
c.1052G>C (p.Gly351Ala)
11g.68793326C>TCA381634160CPT1Ac.956G>A (p.Gly319Glu)
c.212G>A (p.Gly71Glu)
c.1052G>A (p.Gly351Glu)
11g.68793327C>ACA381634165CPT1Ac.955G>T (p.Gly319Ter)
c.211G>T (p.Gly71Ter)
c.1051G>T (p.Gly351Ter)
11g.68793327C>GCA381634163CPT1Ac.955G>C (p.Gly319Arg)
c.211G>C (p.Gly71Arg)
c.1051G>C (p.Gly351Arg)
11g.68793327C>TCA381634164CPT1Ac.955G>A (p.Gly319Arg)
c.211G>A (p.Gly71Arg)
c.1051G>A (p.Gly351Arg)
 COSMIC
11g.68793328T>ACA475201965CPT1Ac.954A>T (p.Pro318=)
c.210A>T (p.Pro70=)
c.1050A>T (p.Pro350=)
11g.68793328T>CCA475201971CPT1Ac.954A>G (p.Pro318=)
c.210A>G (p.Pro70=)
c.1050A>G (p.Pro350=)
11g.68793328T>GCA475201969CPT1Ac.954A>C (p.Pro318=)
c.210A>C (p.Pro70=)
c.1050A>C (p.Pro350=)
11g.68793329G>ACA381634166CPT1Ac.953C>T (p.Pro318Leu)
c.209C>T (p.Pro70Leu)
c.1049C>T (p.Pro350Leu)
11g.68793329G>CCA381634167CPT1Ac.953C>G (p.Pro318Arg)
c.209C>G (p.Pro70Arg)
c.1049C>G (p.Pro350Arg)
 COSMIC COSMIC
11g.68793329G>TCA381634168CPT1Ac.953C>A (p.Pro318Gln)
c.209C>A (p.Pro70Gln)
c.1049C>A (p.Pro350Gln)
 gnomAD v4
11g.68793330G>ACA381634169CPT1Ac.952C>T (p.Pro318Ser)
c.208C>T (p.Pro70Ser)
c.1048C>T (p.Pro350Ser)
11g.68793330G>CCA381634170CPT1Ac.952C>G (p.Pro318Ala)
c.208C>G (p.Pro70Ala)
c.1048C>G (p.Pro350Ala)
11g.68793330G>TCA381634171CPT1Ac.952C>A (p.Pro318Thr)
c.208C>A (p.Pro70Thr)
c.1048C>A (p.Pro350Thr)
11g.68793331G>ACA475201980CPT1Ac.951C>T (p.Ile317=)
c.207C>T (p.Ile69=)
c.1047C>T (p.Ile349=)
 dbSNP gnomAD v2 gnomAD v4
11g.68793331G>CCA381634172CPT1Ac.951C>G (p.Ile317Met)
c.207C>G (p.Ile69Met)
c.1047C>G (p.Ile349Met)
 gnomAD v4
11g.68793331G>TCA475201983CPT1Ac.951C>A (p.Ile317=)
c.207C>A (p.Ile69=)
c.1047C>A (p.Ile349=)
11g.68793332A>CCA381634173CPT1Ac.950T>G (p.Ile317Ser)
c.206T>G (p.Ile69Ser)
c.1046T>G (p.Ile349Ser)
11g.68793332A>GCA381634174CPT1Ac.950T>C (p.Ile317Thr)
c.206T>C (p.Ile69Thr)
c.1046T>C (p.Ile349Thr)
11g.68793332A>TCA381634175CPT1Ac.950T>A (p.Ile317Asn)
c.206T>A (p.Ile69Asn)
c.1046T>A (p.Ile349Asn)
11g.68793333T>ACA381634178CPT1Ac.949A>T (p.Ile317Phe)
c.205A>T (p.Ile69Phe)
c.1045A>T (p.Ile349Phe)
11g.68793333T>CCA381634177CPT1Ac.949A>G (p.Ile317Val)
c.205A>G (p.Ile69Val)
c.1045A>G (p.Ile349Val)
11g.68793333T>GCA381634176CPT1Ac.949A>C (p.Ile317Leu)
c.205A>C (p.Ile69Leu)
c.1045A>C (p.Ile349Leu)
11g.68793334C>ACA475201993CPT1Ac.948G>T (p.Arg316=)
c.204G>T (p.Arg68=)
c.1044G>T (p.Arg348=)
 gnomAD v4
11g.68793334C>GCA475201996CPT1Ac.948G>C (p.Arg316=)
c.204G>C (p.Arg68=)
c.1044G>C (p.Arg348=)
11g.68793334C>TCA475201998CPT1Ac.948G>A (p.Arg316=)
c.204G>A (p.Arg68=)
c.1044G>A (p.Arg348=)
11g.68793335delCA340862CPT1Ac.948del (p.Ile317SerfsTer12)
c.204del (p.Ile69SerfsTer?)
c.1044del (p.Ile349SerfsTer12)
 ClinVar dbSNP gnomAD v4
11g.68793335C>ACA381634179CPT1Ac.947G>T (p.Arg316Leu)
c.203G>T (p.Arg68Leu)
c.1043G>T (p.Arg348Leu)
11g.68793335C>GCA381634180CPT1Ac.947G>C (p.Arg316Pro)
c.203G>C (p.Arg68Pro)
c.1043G>C (p.Arg348Pro)
11g.68793335C>TCA223384641CPT1Ac.947G>A (p.Arg316Gln)
c.203G>A (p.Arg68Gln)
c.1043G>A (p.Arg348Gln)
 dbSNP gnomAD v3 gnomAD v4
11g.68793336G>ACA381634181CPT1Ac.946C>T (p.Arg316Trp)
c.202C>T (p.Arg68Trp)
c.1042C>T (p.Arg348Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793336G>CCA344991CPT1Ac.946C>G (p.Arg316Gly)
c.202C>G (p.Arg68Gly)
c.1042C>G (p.Arg348Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793336G>TCA475202010CPT1Ac.946C>A (p.Arg316=)
c.202C>A (p.Arg68=)
c.1042C>A (p.Arg348=)
11g.68793338delCA2614737151CPT1Ac.946del (p.Arg316GlyfsTer13)
c.202del (p.Arg68GlyfsTer?)
c.1042del (p.Arg348GlyfsTer13)
 gnomAD v4
11g.68793337G>ACA475202019CPT1Ac.945C>T (p.Ser315=)
c.201C>T (p.Ser67=)
c.1041C>T (p.Ser347=)
11g.68793337G>CCA223384649CPT1Ac.945C>G (p.Ser315=)
c.201C>G (p.Ser67=)
c.1041C>G (p.Ser347=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68793337G>TCA475202014CPT1Ac.945C>A (p.Ser315=)
c.201C>A (p.Ser67=)
c.1041C>A (p.Ser347=)
11g.68793338G>ACA381634182CPT1Ac.944C>T (p.Ser315Phe)
c.200C>T (p.Ser67Phe)
c.1040C>T (p.Ser347Phe)
11g.68793338G>CCA381634183CPT1Ac.944C>G (p.Ser315Cys)
c.200C>G (p.Ser67Cys)
c.1040C>G (p.Ser347Cys)
11g.68793338G>TCA381634184CPT1Ac.944C>A (p.Ser315Tyr)
c.200C>A (p.Ser67Tyr)
c.1040C>A (p.Ser347Tyr)
11g.68793339A>CCA381634185CPT1Ac.943T>G (p.Ser315Ala)
c.199T>G (p.Ser67Ala)
c.1039T>G (p.Ser347Ala)
11g.68793339A>GCA6152475CPT1Ac.943T>C (p.Ser315Pro)
c.199T>C (p.Ser67Pro)
c.1039T>C (p.Ser347Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793339A>TCA381634186CPT1Ac.943T>A (p.Ser315Thr)
c.199T>A (p.Ser67Thr)
c.1039T>A (p.Ser347Thr)
11g.68793340A>CCA475202032CPT1Ac.942T>G (p.Thr314=)
c.198T>G (p.Thr66=)
c.1038T>G (p.Thr346=)
11g.68793340A>GCA475202033CPT1Ac.942T>C (p.Thr314=)
c.198T>C (p.Thr66=)
c.1038T>C (p.Thr346=)
11g.68793340A>TCA475202036CPT1Ac.942T>A (p.Thr314=)
c.198T>A (p.Thr66=)
c.1038T>A (p.Thr346=)
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)
11g.68793357C>TCA381634225CPT1Ac.925G>A (p.Glu309Lys)
c.181G>A (p.Glu61Lys)
c.1021G>A (p.Glu341Lys)
11g.68793358C>ACA381634226CPT1Ac.924G>T (p.Trp308Cys)
c.180G>T (p.Trp60Cys)
c.1020G>T (p.Trp340Cys)
11g.68793358C>GCA381634227CPT1Ac.924G>C (p.Trp308Cys)
c.180G>C (p.Trp60Cys)
c.1020G>C (p.Trp340Cys)
11g.68793358C>TCA381634228CPT1Ac.924G>A (p.Trp308Ter)
c.180G>A (p.Trp60Ter)
c.1020G>A (p.Trp340Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.68793359C>ACA381634231CPT1Ac.923G>T (p.Trp308Leu)
c.179G>T (p.Trp60Leu)
c.1019G>T (p.Trp340Leu)
 gnomAD v4
11g.68793359C>GCA381634230CPT1Ac.923G>C (p.Trp308Ser)
c.179G>C (p.Trp60Ser)
c.1019G>C (p.Trp340Ser)
11g.68793359C>TCA381634229CPT1Ac.923G>A (p.Trp308Ter)
c.179G>A (p.Trp60Ter)
c.1019G>A (p.Trp340Ter)
 COSMIC
11g.68793360A>CCA381634232CPT1Ac.922T>G (p.Trp308Gly)
c.178T>G (p.Trp60Gly)
c.1018T>G (p.Trp340Gly)
11g.68793360A>GCA381634233CPT1Ac.922T>C (p.Trp308Arg)
c.178T>C (p.Trp60Arg)
c.1018T>C (p.Trp340Arg)
11g.68793360A>TCA381634234CPT1Ac.922T>A (p.Trp308Arg)
c.178T>A (p.Trp60Arg)
c.1018T>A (p.Trp340Arg)
11g.68793361C>ACA381634235CPT1Ac.921G>T (p.Gln307His)
c.177G>T (p.Gln59His)
c.1017G>T (p.Gln339His)
 dbSNP
11g.68793361C>GCA381634236CPT1Ac.921G>C (p.Gln307His)
c.177G>C (p.Gln59His)
c.1017G>C (p.Gln339His)
11g.68793361C>TCA475202150CPT1Ac.921G>A (p.Gln307=)
c.177G>A (p.Gln59=)
c.1017G>A (p.Gln339=)
 ClinVar
11g.68793362T>ACA381634237CPT1Ac.920A>T (p.Gln307Leu)
c.176A>T (p.Gln59Leu)
c.1016A>T (p.Gln339Leu)
11g.68793362T>CCA381634238CPT1Ac.920A>G (p.Gln307Arg)
c.176A>G (p.Gln59Arg)
c.1016A>G (p.Gln339Arg)
 gnomAD v4
11g.68793362T>GCA381634239CPT1Ac.920A>C (p.Gln307Pro)
c.176A>C (p.Gln59Pro)
c.1016A>C (p.Gln339Pro)
11g.68793363G>ACA16041539CPT1Ac.919C>T (p.Gln307Ter)
c.175C>T (p.Gln59Ter)
c.1015C>T (p.Gln339Ter)
 ClinVar dbSNP gnomAD v4
11g.68793363G>CCA381634240CPT1Ac.919C>G (p.Gln307Glu)
c.175C>G (p.Gln59Glu)
c.1015C>G (p.Gln339Glu)
11g.68793363G>TCA381634241CPT1Ac.919C>A (p.Gln307Lys)
c.175C>A (p.Gln59Lys)
c.1015C>A (p.Gln339Lys)
 gnomAD v4
11g.68793364A>CCA475202166CPT1Ac.918T>G (p.Ala306=)
c.174T>G (p.Ala58=)
c.1014T>G (p.Ala338=)
11g.68793364A>GCA475202167CPT1Ac.918T>C (p.Ala306=)
c.174T>C (p.Ala58=)
c.1014T>C (p.Ala338=)
 gnomAD v4
11g.68793364A>TCA475202169CPT1Ac.918T>A (p.Ala306=)
c.174T>A (p.Ala58=)
c.1014T>A (p.Ala338=)
11g.68793365G>ACA6152481CPT1Ac.917C>T (p.Ala306Val)
c.173C>T (p.Ala58Val)
c.1013C>T (p.Ala338Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793365G>CCA381634242CPT1Ac.917C>G (p.Ala306Gly)
c.173C>G (p.Ala58Gly)
c.1013C>G (p.Ala338Gly)
11g.68793365G>TCA381634243CPT1Ac.917C>A (p.Ala306Asp)
c.173C>A (p.Ala58Asp)
c.1013C>A (p.Ala338Asp)
11g.68793366C>ACA381634245CPT1Ac.916G>T (p.Ala306Ser)
c.172G>T (p.Ala58Ser)
c.1012G>T (p.Ala338Ser)
 gnomAD v4
11g.68793366C>GCA381634244CPT1Ac.916G>C (p.Ala306Pro)
c.172G>C (p.Ala58Pro)
c.1012G>C (p.Ala338Pro)
 gnomAD v4
11g.68793366C>TCA6152482CPT1Ac.916G>A (p.Ala306Thr)
c.172G>A (p.Ala58Thr)
c.1012G>A (p.Ala338Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793367G>ACA6152483CPT1Ac.915C>T (p.Ser305=)
c.171C>T (p.Ser57=)
c.1011C>T (p.Ser337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793367G>CCA475202184CPT1Ac.915C>G (p.Ser305=)
c.171C>G (p.Ser57=)
c.1011C>G (p.Ser337=)
11g.68793367G>TCA475202186CPT1Ac.915C>A (p.Ser305=)
c.171C>A (p.Ser57=)
c.1011C>A (p.Ser337=)
 ClinVar dbSNP gnomAD v4
11g.68793368G>ACA381634246CPT1Ac.914C>T (p.Ser305Phe)
c.170C>T (p.Ser57Phe)
c.1010C>T (p.Ser337Phe)
11g.68793368G>CCA381634247CPT1Ac.914C>G (p.Ser305Cys)
c.170C>G (p.Ser57Cys)
c.1010C>G (p.Ser337Cys)
11g.68793368G>TCA381634248CPT1Ac.914C>A (p.Ser305Tyr)
c.170C>A (p.Ser57Tyr)
c.1010C>A (p.Ser337Tyr)
 gnomAD v4
11g.68793369A>CCA381634249CPT1Ac.913T>G (p.Ser305Ala)
c.169T>G (p.Ser57Ala)
c.1009T>G (p.Ser337Ala)
11g.68793369A>GCA381634250CPT1Ac.913T>C (p.Ser305Pro)
c.169T>C (p.Ser57Pro)
c.1009T>C (p.Ser337Pro)
 gnomAD v4
11g.68793369A>TCA381634251CPT1Ac.913T>A (p.Ser305Thr)
c.169T>A (p.Ser57Thr)
c.1009T>A (p.Ser337Thr)
11g.68793370G>ACA6152484CPT1Ac.912C>T (p.Cys304=)
c.168C>T (p.Cys56=)
c.1008C>T (p.Cys336=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793370G>CCA344987CPT1Ac.912C>G (p.Cys304Trp)
c.168C>G (p.Cys56Trp)
c.1008C>G (p.Cys336Trp)
 ClinVar dbSNP
11g.68793370G>TCA381634252CPT1Ac.912C>A (p.Cys304Ter)
c.168C>A (p.Cys56Ter)
c.1008C>A (p.Cys336Ter)
11g.68793371C>ACA381634253CPT1Ac.911G>T (p.Cys304Phe)
c.167G>T (p.Cys56Phe)
c.1007G>T (p.Cys336Phe)
11g.68793371C>GCA381634254CPT1Ac.911G>C (p.Cys304Ser)
c.167G>C (p.Cys56Ser)
c.1007G>C (p.Cys336Ser)
11g.68793371C>TCA381634255CPT1Ac.911G>A (p.Cys304Tyr)
c.167G>A (p.Cys56Tyr)
c.1007G>A (p.Cys336Tyr)
11g.68793372A>CCA381634258CPT1Ac.910T>G (p.Cys304Gly)
c.166T>G (p.Cys56Gly)
c.1006T>G (p.Cys336Gly)
11g.68793372A>GCA381634257CPT1Ac.910T>C (p.Cys304Arg)
c.166T>C (p.Cys56Arg)
c.1006T>C (p.Cys336Arg)
11g.68793372A>TCA381634256CPT1Ac.910T>A (p.Cys304Ser)
c.166T>A (p.Cys56Ser)
c.1006T>A (p.Cys336Ser)
11g.68793373G>ACA475202218CPT1Ac.909C>T (p.Leu303=)
c.165C>T (p.Leu55=)
c.1005C>T (p.Leu335=)
11g.68793373G>CCA475202221CPT1Ac.909C>G (p.Leu303=)
c.165C>G (p.Leu55=)
c.1005C>G (p.Leu335=)
 gnomAD v4
11g.68793373G>TCA475202224CPT1Ac.909C>A (p.Leu303=)
c.165C>A (p.Leu55=)
c.1005C>A (p.Leu335=)
11g.68793374A>CCA381634259CPT1Ac.908T>G (p.Leu303Arg)
c.164T>G (p.Leu55Arg)
c.1004T>G (p.Leu335Arg)
11g.68793374A>GCA381634260CPT1Ac.908T>C (p.Leu303Pro)
c.164T>C (p.Leu55Pro)
c.1004T>C (p.Leu335Pro)
11g.68793374A>TCA381634261CPT1Ac.908T>A (p.Leu303His)
c.164T>A (p.Leu55His)
c.1004T>A (p.Leu335His)
11g.68793375G>ACA381634262CPT1Ac.907C>T (p.Leu303Phe)
c.163C>T (p.Leu55Phe)
c.1003C>T (p.Leu335Phe)
 gnomAD v4
11g.68793375G>CCA381634263CPT1Ac.907C>G (p.Leu303Val)
c.163C>G (p.Leu55Val)
c.1003C>G (p.Leu335Val)
11g.68793375G>TCA381634264CPT1Ac.907C>A (p.Leu303Ile)
c.163C>A (p.Leu55Ile)
c.1003C>A (p.Leu335Ile)
11g.68793376T>ACA475202238CPT1Ac.906A>T (p.Pro302=)
c.162A>T (p.Pro54=)
c.1002A>T (p.Pro334=)
 gnomAD v4
11g.68793376T>CCA475202240CPT1Ac.906A>G (p.Pro302=)
c.162A>G (p.Pro54=)
c.1002A>G (p.Pro334=)
11g.68793376T>GCA475202242CPT1Ac.906A>C (p.Pro302=)
c.162A>C (p.Pro54=)
c.1002A>C (p.Pro334=)
11g.68793377G>ACA381634265CPT1Ac.905C>T (p.Pro302Leu)
c.161C>T (p.Pro54Leu)
c.1001C>T (p.Pro334Leu)
11g.68793377G>CCA381634266CPT1Ac.905C>G (p.Pro302Arg)
c.161C>G (p.Pro54Arg)
c.1001C>G (p.Pro334Arg)
11g.68793377G>TCA381634267CPT1Ac.905C>A (p.Pro302Gln)
c.161C>A (p.Pro54Gln)
c.1001C>A (p.Pro334Gln)
11g.68793378G>ACA381634268CPT1Ac.904C>T (p.Pro302Ser)
c.160C>T (p.Pro54Ser)
c.1000C>T (p.Pro334Ser)
 COSMIC COSMIC
11g.68793378G>CCA381634269CPT1Ac.904C>G (p.Pro302Ala)
c.160C>G (p.Pro54Ala)
c.1000C>G (p.Pro334Ala)
11g.68793378G>TCA381634270CPT1Ac.904C>A (p.Pro302Thr)
c.160C>A (p.Pro54Thr)
c.1000C>A (p.Pro334Thr)
11g.68793379A>CCA381634271CPT1Ac.903T>G (p.Ile301Met)
c.159T>G (p.Ile53Met)
c.999T>G (p.Ile333Met)
 gnomAD v4
11g.68793379A>GCA475202253CPT1Ac.903T>C (p.Ile301=)
c.159T>C (p.Ile53=)
c.999T>C (p.Ile333=)
11g.68793379A>TCA475202255CPT1Ac.903T>A (p.Ile301=)
c.159T>A (p.Ile53=)
c.999T>A (p.Ile333=)
11g.68793380A>CCA381634273CPT1Ac.902T>G (p.Ile301Ser)
c.158T>G (p.Ile53Ser)
c.998T>G (p.Ile333Ser)
11g.68793380A>GCA223384765CPT1Ac.902T>C (p.Ile301Thr)
c.158T>C (p.Ile53Thr)
c.998T>C (p.Ile333Thr)
 dbSNP
11g.68793380A>TCA381634272CPT1Ac.902T>A (p.Ile301Asn)
c.158T>A (p.Ile53Asn)
c.998T>A (p.Ile333Asn)
11g.68793381T>ACA381634274CPT1Ac.901A>T (p.Ile301Phe)
c.157A>T (p.Ile53Phe)
c.997A>T (p.Ile333Phe)
11g.68793381T>CCA381634276CPT1Ac.901A>G (p.Ile301Val)
c.157A>G (p.Ile53Val)
c.997A>G (p.Ile333Val)
 gnomAD v4
11g.68793381T>GCA381634275CPT1Ac.901A>C (p.Ile301Leu)
c.157A>C (p.Ile53Leu)
c.997A>C (p.Ile333Leu)
11g.68793382C>ACA475202267CPT1Ac.900G>T (p.Thr300=)
c.156G>T (p.Thr52=)
c.996G>T (p.Thr332=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68793382C>GCA475202269CPT1Ac.900G>C (p.Thr300=)
c.156G>C (p.Thr52=)
c.996G>C (p.Thr332=)
11g.68793382C>TCA475202270CPT1Ac.900G>A (p.Thr300=)
c.156G>A (p.Thr52=)
c.996G>A (p.Thr332=)
 ClinVar dbSNP gnomAD v4
11g.68793383G>ACA6152485CPT1Ac.899C>T (p.Thr300Met)
c.155C>T (p.Thr52Met)
c.995C>T (p.Thr332Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793383G>CCA381634277CPT1Ac.899C>G (p.Thr300Arg)
c.155C>G (p.Thr52Arg)
c.995C>G (p.Thr332Arg)
11g.68793383G>TCA381634278CPT1Ac.899C>A (p.Thr300Lys)
c.155C>A (p.Thr52Lys)
c.995C>A (p.Thr332Lys)
11g.68793384T>ACA381634279CPT1Ac.898A>T (p.Thr300Ser)
c.154A>T (p.Thr52Ser)
c.994A>T (p.Thr332Ser)
11g.68793384T>CCA381634280CPT1Ac.898A>G (p.Thr300Ala)
c.154A>G (p.Thr52Ala)
c.994A>G (p.Thr332Ala)
11g.68793384T>GCA381634281CPT1Ac.898A>C (p.Thr300Pro)
c.154A>C (p.Thr52Pro)
c.994A>C (p.Thr332Pro)
11g.68793385G>ACA475202299CPT1Ac.897C>T (p.Ser299=)
c.153C>T (p.Ser51=)
c.993C>T (p.Ser331=)
11g.68793385G>CCA475202295CPT1Ac.897C>G (p.Ser299=)
c.153C>G (p.Ser51=)
c.993C>G (p.Ser331=)
11g.68793385G>TCA475202302CPT1Ac.897C>A (p.Ser299=)
c.153C>A (p.Ser51=)
c.993C>A (p.Ser331=)
 gnomAD v4
11g.68793386G>ACA381634282CPT1Ac.896C>T (p.Ser299Phe)
c.152C>T (p.Ser51Phe)
c.992C>T (p.Ser331Phe)
 gnomAD v4
11g.68793386G>CCA6152487CPT1Ac.896C>G (p.Ser299Cys)
c.152C>G (p.Ser51Cys)
c.992C>G (p.Ser331Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793386G>TCA6152486CPT1Ac.896C>A (p.Ser299Tyr)
c.152C>A (p.Ser51Tyr)
c.992C>A (p.Ser331Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793387A>CCA381634283CPT1Ac.895T>G (p.Ser299Ala)
c.151T>G (p.Ser51Ala)
c.991T>G (p.Ser331Ala)
11g.68793387A>GCA381634284CPT1Ac.895T>C (p.Ser299Pro)
c.151T>C (p.Ser51Pro)
c.991T>C (p.Ser331Pro)
11g.68793387A>TCA381634285CPT1Ac.895T>A (p.Ser299Thr)
c.151T>A (p.Ser51Thr)
c.991T>A (p.Ser331Thr)
11g.68793388T>ACA475202332CPT1Ac.894A>T (p.Gly298=)
c.150A>T (p.Gly50=)
c.990A>T (p.Gly330=)
11g.68793388T>CCA475202329CPT1Ac.894A>G (p.Gly298=)
c.150A>G (p.Gly50=)
c.990A>G (p.Gly330=)
11g.68793388T>GCA475202328CPT1Ac.894A>C (p.Gly298=)
c.150A>C (p.Gly50=)
c.990A>C (p.Gly330=)
11g.68793389C>ACA381634286CPT1Ac.893G>T (p.Gly298Val)
c.149G>T (p.Gly50Val)
c.989G>T (p.Gly330Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793389C>GCA381634288CPT1Ac.893G>C (p.Gly298Ala)
c.149G>C (p.Gly50Ala)
c.989G>C (p.Gly330Ala)
11g.68793389C>TCA381634287CPT1Ac.893G>A (p.Gly298Glu)
c.149G>A (p.Gly50Glu)
c.989G>A (p.Gly330Glu)
11g.68793390C>ACA381634289CPT1Ac.892G>T (p.Gly298Ter)
c.148G>T (p.Gly50Ter)
c.988G>T (p.Gly330Ter)
11g.68793390C>GCA381634290CPT1Ac.892G>C (p.Gly298Arg)
c.148G>C (p.Gly50Arg)
c.988G>C (p.Gly330Arg)
11g.68793390C>TCA6152488CPT1Ac.892G>A (p.Gly298Arg)
c.148G>A (p.Gly50Arg)
c.988G>A (p.Gly330Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793391C>ACA381634291CPT1Ac.891G>T (p.Leu297Phe)
c.147G>T (p.Leu49Phe)
c.987G>T (p.Leu329Phe)
11g.68793391C>GCA381634292CPT1Ac.891G>C (p.Leu297Phe)
c.147G>C (p.Leu49Phe)
c.987G>C (p.Leu329Phe)
11g.68793391C>TCA475202347CPT1Ac.891G>A (p.Leu297=)
c.147G>A (p.Leu49=)
c.987G>A (p.Leu329=)
 dbSNP gnomAD v4
11g.68793392A>CCA381634293CPT1Ac.890T>G (p.Leu297Trp)
c.146T>G (p.Leu49Trp)
c.986T>G (p.Leu329Trp)
11g.68793392A>GCA381634294CPT1Ac.890T>C (p.Leu297Ser)
c.146T>C (p.Leu49Ser)
c.986T>C (p.Leu329Ser)
11g.68793392A>TCA381634295CPT1Ac.890T>A (p.Leu297Ter)
c.146T>A (p.Leu49Ter)
c.986T>A (p.Leu329Ter)
11g.68793393A>CCA381634296CPT1Ac.889T>G (p.Leu297Val)
c.145T>G (p.Leu49Val)
c.985T>G (p.Leu329Val)
11g.68793393A>GCA475202366CPT1Ac.889T>C (p.Leu297=)
c.145T>C (p.Leu49=)
c.985T>C (p.Leu329=)
11g.68793393A>TCA381634297CPT1Ac.889T>A (p.Leu297Met)
c.145T>A (p.Leu49Met)
c.985T>A (p.Leu329Met)
11g.68793394A>CCA475202373CPT1Ac.888T>G (p.Leu296=)
c.144T>G (p.Leu48=)
c.984T>G (p.Leu328=)
 dbSNP gnomAD v2 gnomAD v4
11g.68793394A>GCA475202376CPT1Ac.888T>C (p.Leu296=)
c.144T>C (p.Leu48=)
c.984T>C (p.Leu328=)
11g.68793394A>TCA475202378CPT1Ac.888T>A (p.Leu296=)
c.144T>A (p.Leu48=)
c.984T>A (p.Leu328=)
11g.68793395A>CCA381634299CPT1Ac.887T>G (p.Leu296Arg)
c.143T>G (p.Leu48Arg)
c.983T>G (p.Leu328Arg)
11g.68793395A>GCA381634300CPT1Ac.887T>C (p.Leu296Pro)
c.143T>C (p.Leu48Pro)
c.983T>C (p.Leu328Pro)
11g.68793395A>TCA381634298CPT1Ac.887T>A (p.Leu296His)
c.143T>A (p.Leu48His)
c.983T>A (p.Leu328His)
11g.68793396_68793397dupCA2614737330CPT1Ac.886_887dup (p.Leu297PhefsTer?)
c.142_143dup (p.Leu49PhefsTer?)
c.982_983dup (p.Leu329PhefsTer?)
 gnomAD v4
11g.68793396G>ACA381634301CPT1Ac.886C>T (p.Leu296Phe)
c.142C>T (p.Leu48Phe)
c.982C>T (p.Leu328Phe)
11g.68793396G>CCA381634302CPT1Ac.886C>G (p.Leu296Val)
c.142C>G (p.Leu48Val)
c.982C>G (p.Leu328Val)
11g.68793396G>TCA381634303CPT1Ac.886C>A (p.Leu296Ile)
c.142C>A (p.Leu48Ile)
c.982C>A (p.Leu328Ile)
 COSMIC COSMIC
11g.68793397A>CCA475202397CPT1Ac.885T>G (p.Arg295=)
c.141T>G (p.Arg47=)
c.981T>G (p.Arg327=)
 gnomAD v4
11g.68793397A>GCA475202398CPT1Ac.885T>C (p.Arg295=)
c.141T>C (p.Arg47=)
c.981T>C (p.Arg327=)
11g.68793397A>TCA475202400CPT1Ac.885T>A (p.Arg295=)
c.141T>A (p.Arg47=)
c.981T>A (p.Arg327=)
11g.68793398C>ACA381634304CPT1Ac.884G>T (p.Arg295Leu)
c.140G>T (p.Arg47Leu)
c.980G>T (p.Arg327Leu)
 gnomAD v4
11g.68793398C>GCA381634305CPT1Ac.884G>C (p.Arg295Pro)
c.140G>C (p.Arg47Pro)
c.980G>C (p.Arg327Pro)
11g.68793398C>TCA6152489CPT1Ac.884G>A (p.Arg295His)
c.140G>A (p.Arg47His)
c.980G>A (p.Arg327His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793399G>ACA381634307CPT1Ac.883C>T (p.Arg295Cys)
c.139C>T (p.Arg47Cys)
c.979C>T (p.Arg327Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793399G>CCA381634310CPT1Ac.883C>G (p.Arg295Gly)
c.139C>G (p.Arg47Gly)
c.979C>G (p.Arg327Gly)
11g.68793399G>TCA6152490CPT1Ac.883C>A (p.Arg295Ser)
c.139C>A (p.Arg47Ser)
c.979C>A (p.Arg327Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793400A>CCA381634313CPT1Ac.882T>G (p.Ile294Met)
c.138T>G (p.Ile46Met)
c.978T>G (p.Ile326Met)
 dbSNP gnomAD v2 gnomAD v4
11g.68793400A>GCA475202428CPT1Ac.882T>C (p.Ile294=)
c.138T>C (p.Ile46=)
c.978T>C (p.Ile326=)
11g.68793400A>TCA475202429CPT1Ac.882T>A (p.Ile294=)
c.138T>A (p.Ile46=)
c.978T>A (p.Ile326=)
 gnomAD v4
11g.68793401A>CCA381634315CPT1Ac.881T>G (p.Ile294Ser)
c.137T>G (p.Ile46Ser)
c.977T>G (p.Ile326Ser)
11g.68793401A>GCA381634317CPT1Ac.881T>C (p.Ile294Thr)
c.137T>C (p.Ile46Thr)
c.977T>C (p.Ile326Thr)
11g.68793401A>TCA381634319CPT1Ac.881T>A (p.Ile294Asn)
c.137T>A (p.Ile46Asn)
c.977T>A (p.Ile326Asn)
11g.68793402T>ACA381634324CPT1Ac.880A>T (p.Ile294Phe)
c.136A>T (p.Ile46Phe)
c.976A>T (p.Ile326Phe)
11g.68793402T>CCA6152491CPT1Ac.880A>G (p.Ile294Val)
c.136A>G (p.Ile46Val)
c.976A>G (p.Ile326Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793402T>GCA381634321CPT1Ac.880A>C (p.Ile294Leu)
c.136A>C (p.Ile46Leu)
c.976A>C (p.Ile326Leu)
11g.68793402_68793403insTGGTTTGATTTCCA2724571998CPT1Ac.880-1_880insGAAATCAAACCA (n.880-1_880insGAAATCAAACCA)
c.136-1_136insGAAATCAAACCA (n.136-1_136insGAAATCAAACCA)
c.976-1_976insGAAATCAAACCA (n.976-1_976insGAAATCAAACCA)
 dbSNP
11g.68793403C>ACA381634326CPT1Ac.880-1G>T (n.880-1G>T)
c.136-1G>T (n.136-1G>T)
c.976-1G>T (n.976-1G>T)
11g.68793403C>GCA381634328CPT1Ac.880-1G>C (n.880-1G>C)
c.136-1G>C (n.136-1G>C)
c.976-1G>C (n.976-1G>C)
11g.68793403C>TCA381634329CPT1Ac.880-1G>A (n.880-1G>A)
c.136-1G>A (n.136-1G>A)
c.976-1G>A (n.976-1G>A)
11g.68793404T>ACA381634332CPT1Ac.880-2A>T (n.880-2A>T)
c.136-2A>T (n.136-2A>T)
c.976-2A>T (n.976-2A>T)
11g.68793404T>CCA381634333CPT1Ac.880-2A>G (n.880-2A>G)
c.136-2A>G (n.136-2A>G)
c.976-2A>G (n.976-2A>G)
11g.68793404T>GCA381634335CPT1Ac.880-2A>C (n.880-2A>C)
c.136-2A>C (n.136-2A>C)
c.976-2A>C (n.976-2A>C)
11g.68793404_68793405insCCCGGTCCACA2724572644CPT1Ac.880-3_880-2insTGGACCGGG (n.880-3_880-2insTGGACCGGG)
c.136-3_136-2insTGGACCGGG (n.136-3_136-2insTGGACCGGG)
c.976-3_976-2insTGGACCGGG (n.976-3_976-2insTGGACCGGG)
 dbSNP
11g.68793405G>ACA2614737332CPT1Ac.880-3C>T (n.880-3C>T)
c.136-3C>T (n.136-3C>T)
c.976-3C>T (n.976-3C>T)
 gnomAD v4

Number of alleles fetched