Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68793232_68793255delCA939202315CPT1Ac.967+64_967+87del (n.967+64_967+87del)
c.223+64_223+87del (n.223+64_223+87del)
c.1063+64_1063+87del (n.1063+64_1063+87del)
 dbSNP gnomAD v3 gnomAD v4
11g.68793254T>ACA2614736898CPT1Ac.967+61A>T (n.967+61A>T)
c.223+61A>T (n.223+61A>T)
c.1063+61A>T (n.1063+61A>T)
 gnomAD v4
11g.68793256C>ACA2614736900CPT1Ac.967+59G>T (n.967+59G>T)
c.223+59G>T (n.223+59G>T)
c.1063+59G>T (n.1063+59G>T)
 gnomAD v4
11g.68793257T>ACA2614736901CPT1Ac.967+58A>T (n.967+58A>T)
c.223+58A>T (n.223+58A>T)
c.1063+58A>T (n.1063+58A>T)
 gnomAD v4
11g.68793258G>ACA223384501CPT1Ac.967+57C>T (n.967+57C>T)
c.223+57C>T (n.223+57C>T)
c.1063+57C>T (n.1063+57C>T)
 dbSNP gnomAD v4
11g.68793258G>TCA2614736903CPT1Ac.967+57C>A (n.967+57C>A)
c.223+57C>A (n.223+57C>A)
c.1063+57C>A (n.1063+57C>A)
 gnomAD v4
11g.68793259A>GCA2574903310CPT1Ac.967+56T>C (n.967+56T>C)
c.223+56T>C (n.223+56T>C)
c.1063+56T>C (n.1063+56T>C)
 gnomAD v4
11g.68793260G>ACA2724282668CPT1Ac.967+55C>T (n.967+55C>T)
c.223+55C>T (n.223+55C>T)
c.1063+55C>T (n.1063+55C>T)
 dbSNP
11g.68793260G>CCA2724282669CPT1Ac.967+55C>G (n.967+55C>G)
c.223+55C>G (n.223+55C>G)
c.1063+55C>G (n.1063+55C>G)
 dbSNP
11g.68793260G>TCA2574903311CPT1Ac.967+55C>A (n.967+55C>A)
c.223+55C>A (n.223+55C>A)
c.1063+55C>A (n.1063+55C>A)
 gnomAD v4
11g.68793261C>ACA2614736904CPT1Ac.967+54G>T (n.967+54G>T)
c.223+54G>T (n.223+54G>T)
c.1063+54G>T (n.1063+54G>T)
 gnomAD v4
11g.68793262A>TCA2614736905CPT1Ac.967+53T>A (n.967+53T>A)
c.223+53T>A (n.223+53T>A)
c.1063+53T>A (n.1063+53T>A)
 gnomAD v4
11g.68793263T>CCA939202322CPT1Ac.967+52A>G (n.967+52A>G)
c.223+52A>G (n.223+52A>G)
c.1063+52A>G (n.1063+52A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68793264A>GCA2574903312CPT1Ac.967+51T>C (n.967+51T>C)
c.223+51T>C (n.223+51T>C)
c.1063+51T>C (n.1063+51T>C)
 gnomAD v4
11g.68793264A>TCA2614736907CPT1Ac.967+51T>A (n.967+51T>A)
c.223+51T>A (n.223+51T>A)
c.1063+51T>A (n.1063+51T>A)
 dbSNP gnomAD v4
11g.68793265G>TCA2614736908CPT1Ac.967+50C>A (n.967+50C>A)
c.223+50C>A (n.223+50C>A)
c.1063+50C>A (n.1063+50C>A)
 gnomAD v4
11g.68793266G>TCA2574903313CPT1Ac.967+49C>A (n.967+49C>A)
c.223+49C>A (n.223+49C>A)
c.1063+49C>A (n.1063+49C>A)
 gnomAD v4
11g.68793267G>ACA2574903314CPT1Ac.967+48C>T (n.967+48C>T)
c.223+48C>T (n.223+48C>T)
c.1063+48C>T (n.1063+48C>T)
11g.68793267G>TCA599990502CPT1Ac.967+48C>A (n.967+48C>A)
c.223+48C>A (n.223+48C>A)
c.1063+48C>A (n.1063+48C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68793269T>CCA679632368CPT1Ac.967+46A>G (n.967+46A>G)
c.223+46A>G (n.223+46A>G)
c.1063+46A>G (n.1063+46A>G)
 dbSNP
11g.68793270G>TCA2574903315CPT1Ac.967+45C>A (n.967+45C>A)
c.223+45C>A (n.223+45C>A)
c.1063+45C>A (n.1063+45C>A)
 gnomAD v4
11g.68793271G>ACA2614736918CPT1Ac.967+44C>T (n.967+44C>T)
c.223+44C>T (n.223+44C>T)
c.1063+44C>T (n.1063+44C>T)
 gnomAD v4
11g.68793271G>TCA2614736921CPT1Ac.967+44C>A (n.967+44C>A)
c.223+44C>A (n.223+44C>A)
c.1063+44C>A (n.1063+44C>A)
 gnomAD v4
11g.68793271_68793283delCA2614736916CPT1Ac.967+32_967+44del (n.967+32_967+44del)
c.223+32_223+44del (n.223+32_223+44del)
c.1063+32_1063+44del (n.1063+32_1063+44del)
 gnomAD v4
11g.68793272A>GCA2614736925CPT1Ac.967+43T>C (n.967+43T>C)
c.223+43T>C (n.223+43T>C)
c.1063+43T>C (n.1063+43T>C)
 gnomAD v4
11g.68793274A>GCA2614736928CPT1Ac.967+41T>C (n.967+41T>C)
c.223+41T>C (n.223+41T>C)
c.1063+41T>C (n.1063+41T>C)
 gnomAD v4
11g.68793274A>TCA2792553346CPT1Ac.967+41T>A (n.967+41T>A)
c.223+41T>A (n.223+41T>A)
c.1063+41T>A (n.1063+41T>A)
11g.68793275G>ACA599990503CPT1Ac.967+40C>T (n.967+40C>T)
c.223+40C>T (n.223+40C>T)
c.1063+40C>T (n.1063+40C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.68793275G>TCA2614736929CPT1Ac.967+40C>A (n.967+40C>A)
c.223+40C>A (n.223+40C>A)
c.1063+40C>A (n.1063+40C>A)
 gnomAD v4
11g.68793276T>CCA599990504CPT1Ac.967+39A>G (n.967+39A>G)
c.223+39A>G (n.223+39A>G)
c.1063+39A>G (n.1063+39A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.68793277G>ACA679632372CPT1Ac.967+38C>T (n.967+38C>T)
c.223+38C>T (n.223+38C>T)
c.1063+38C>T (n.1063+38C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.68793277G>TCA2574903316CPT1Ac.967+38C>A (n.967+38C>A)
c.223+38C>A (n.223+38C>A)
c.1063+38C>A (n.1063+38C>A)
 gnomAD v4
11g.68793278C>ACA6152458CPT1Ac.967+37G>T (n.967+37G>T)
c.223+37G>T (n.223+37G>T)
c.1063+37G>T (n.1063+37G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793278C=CA2581028862CPT1Ac.967+37G= (n.967+37G=)
c.223+37G= (n.223+37G=)
c.1063+37G= (n.1063+37G=)
11g.68793278C>GCA223384511CPT1Ac.967+37G>C (n.967+37G>C)
c.223+37G>C (n.223+37G>C)
c.1063+37G>C (n.1063+37G>C)
 dbSNP
11g.68793278C>TCA6152459CPT1Ac.967+37G>A (n.967+37G>A)
c.223+37G>A (n.223+37G>A)
c.1063+37G>A (n.1063+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793279C>ACA2614736947CPT1Ac.967+36G>T (n.967+36G>T)
c.223+36G>T (n.223+36G>T)
c.1063+36G>T (n.1063+36G>T)
 gnomAD v4
11g.68793279C>TCA6152460CPT1Ac.967+36G>A (n.967+36G>A)
c.223+36G>A (n.223+36G>A)
c.1063+36G>A (n.1063+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793280G>ACA6152461CPT1Ac.967+35C>T (n.967+35C>T)
c.223+35C>T (n.223+35C>T)
c.1063+35C>T (n.1063+35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793280G>CCA6152462CPT1Ac.967+35C>G (n.967+35C>G)
c.223+35C>G (n.223+35C>G)
c.1063+35C>G (n.1063+35C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793280G>TCA2574903317CPT1Ac.967+35C>A (n.967+35C>A)
c.223+35C>A (n.223+35C>A)
c.1063+35C>A (n.1063+35C>A)
 gnomAD v4
11g.68793283T>CCA6152463CPT1Ac.967+32A>G (n.967+32A>G)
c.223+32A>G (n.223+32A>G)
c.1063+32A>G (n.1063+32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793284C>GCA223384587CPT1Ac.967+31G>C (n.967+31G>C)
c.223+31G>C (n.223+31G>C)
c.1063+31G>C (n.1063+31G>C)
 dbSNP
11g.68793286C>ACA2614736957CPT1Ac.967+29G>T (n.967+29G>T)
c.223+29G>T (n.223+29G>T)
c.1063+29G>T (n.1063+29G>T)
 gnomAD v4
11g.68793286C>GCA2614736962CPT1Ac.967+29G>C (n.967+29G>C)
c.223+29G>C (n.223+29G>C)
c.1063+29G>C (n.1063+29G>C)
 gnomAD v4
11g.68793286C>TCA679632382CPT1Ac.967+29G>A (n.967+29G>A)
c.223+29G>A (n.223+29G>A)
c.1063+29G>A (n.1063+29G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68793287C>ACA2614736966CPT1Ac.967+28G>T (n.967+28G>T)
c.223+28G>T (n.223+28G>T)
c.1063+28G>T (n.1063+28G>T)
 gnomAD v4
11g.68793287C>TCA599990505CPT1Ac.967+28G>A (n.967+28G>A)
c.223+28G>A (n.223+28G>A)
c.1063+28G>A (n.1063+28G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68793288A>CCA2614736967CPT1Ac.967+27T>G (n.967+27T>G)
c.223+27T>G (n.223+27T>G)
c.1063+27T>G (n.1063+27T>G)
 gnomAD v4
11g.68793288A>GCA2614736968CPT1Ac.967+27T>C (n.967+27T>C)
c.223+27T>C (n.223+27T>C)
c.1063+27T>C (n.1063+27T>C)
 gnomAD v4
11g.68793288A>TCA2614736969CPT1Ac.967+27T>A (n.967+27T>A)
c.223+27T>A (n.223+27T>A)
c.1063+27T>A (n.1063+27T>A)
 gnomAD v4
11g.68793289G>ACA6152464CPT1Ac.967+26C>T (n.967+26C>T)
c.223+26C>T (n.223+26C>T)
c.1063+26C>T (n.1063+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793289G>CCA2614736982CPT1Ac.967+26C>G (n.967+26C>G)
c.223+26C>G (n.223+26C>G)
c.1063+26C>G (n.1063+26C>G)
 gnomAD v4
11g.68793289G>TCA2614736983CPT1Ac.967+26C>A (n.967+26C>A)
c.223+26C>A (n.223+26C>A)
c.1063+26C>A (n.1063+26C>A)
 gnomAD v4
11g.68793293dupCA2614736974CPT1Ac.967+26dup (n.967+26dup)
c.223+26dup (n.223+26dup)
c.1063+26dup (n.1063+26dup)
 gnomAD v4
11g.68793293delCA2614736976CPT1Ac.967+26del (n.967+26del)
c.223+26del (n.223+26del)
c.1063+26del (n.1063+26del)
 gnomAD v4
11g.68793291_68793293delCA2614736978CPT1Ac.967+24_967+26del (n.967+24_967+26del)
c.223+24_223+26del (n.223+24_223+26del)
c.1063+24_1063+26del (n.1063+24_1063+26del)
 gnomAD v4
11g.68793290G>ACA2574903318CPT1Ac.967+25C>T (n.967+25C>T)
c.223+25C>T (n.223+25C>T)
c.1063+25C>T (n.1063+25C>T)
 gnomAD v4
11g.68793290G>CCA2614736986CPT1Ac.967+25C>G (n.967+25C>G)
c.223+25C>G (n.223+25C>G)
c.1063+25C>G (n.1063+25C>G)
 gnomAD v4
11g.68793290G>TCA2614736987CPT1Ac.967+25C>A (n.967+25C>A)
c.223+25C>A (n.223+25C>A)
c.1063+25C>A (n.1063+25C>A)
 gnomAD v4
11g.68793291G>CCA2574903319CPT1Ac.967+24C>G (n.967+24C>G)
c.223+24C>G (n.223+24C>G)
c.1063+24C>G (n.1063+24C>G)
11g.68793291G>TCA2614736991CPT1Ac.967+24C>A (n.967+24C>A)
c.223+24C>A (n.223+24C>A)
c.1063+24C>A (n.1063+24C>A)
 gnomAD v4
11g.68793292G>CCA6152465CPT1Ac.967+23C>G (n.967+23C>G)
c.223+23C>G (n.223+23C>G)
c.1063+23C>G (n.1063+23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793292G>TCA2614736996CPT1Ac.967+23C>A (n.967+23C>A)
c.223+23C>A (n.223+23C>A)
c.1063+23C>A (n.1063+23C>A)
 gnomAD v4
11g.68793293G>ACA6152466CPT1Ac.967+22C>T (n.967+22C>T)
c.223+22C>T (n.223+22C>T)
c.1063+22C>T (n.1063+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68793293G>CCA2574903320CPT1Ac.967+22C>G (n.967+22C>G)
c.223+22C>G (n.223+22C>G)
c.1063+22C>G (n.1063+22C>G)
 gnomAD v4
11g.68793293G>TCA679632390CPT1Ac.967+22C>A (n.967+22C>A)
c.223+22C>A (n.223+22C>A)
c.1063+22C>A (n.1063+22C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68793294C>ACA2614737006CPT1Ac.967+21G>T (n.967+21G>T)
c.223+21G>T (n.223+21G>T)
c.1063+21G>T (n.1063+21G>T)
 gnomAD v4
11g.68793294C>GCA2614737007CPT1Ac.967+21G>C (n.967+21G>C)
c.223+21G>C (n.223+21G>C)
c.1063+21G>C (n.1063+21G>C)
 gnomAD v4
11g.68793294C>TCA679632394CPT1Ac.967+21G>A (n.967+21G>A)
c.223+21G>A (n.223+21G>A)
c.1063+21G>A (n.1063+21G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68793296delCA2614737004CPT1Ac.967+21del (n.967+21del)
c.223+21del (n.223+21del)
c.1063+21del (n.1063+21del)
 gnomAD v4
11g.68793295C>ACA2614737018CPT1Ac.967+20G>T (n.967+20G>T)
c.223+20G>T (n.223+20G>T)
c.1063+20G>T (n.1063+20G>T)
 gnomAD v4
11g.68793295C>GCA2614737020CPT1Ac.967+20G>C (n.967+20G>C)
c.223+20G>C (n.223+20G>C)
c.1063+20G>C (n.1063+20G>C)
 gnomAD v4
11g.68793295C>TCA599990506CPT1Ac.967+20G>A (n.967+20G>A)
c.223+20G>A (n.223+20G>A)
c.1063+20G>A (n.1063+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68793296C>ACA2614737022CPT1Ac.967+19G>T (n.967+19G>T)
c.223+19G>T (n.223+19G>T)
c.1063+19G>T (n.1063+19G>T)
 gnomAD v4
11g.68793297T>CCA2614737023CPT1Ac.967+18A>G (n.967+18A>G)
c.223+18A>G (n.223+18A>G)
c.1063+18A>G (n.1063+18A>G)
 gnomAD v4
11g.68793297T>GCA2614737024CPT1Ac.967+18A>C (n.967+18A>C)
c.223+18A>C (n.223+18A>C)
c.1063+18A>C (n.1063+18A>C)
 dbSNP gnomAD v4
11g.68793298G>ACA6152467CPT1Ac.967+17C>T (n.967+17C>T)
c.223+17C>T (n.223+17C>T)
c.1063+17C>T (n.1063+17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68793298G>TCA2614737025CPT1Ac.967+17C>A (n.967+17C>A)
c.223+17C>A (n.223+17C>A)
c.1063+17C>A (n.1063+17C>A)
 gnomAD v4
11g.68793299A>GCA2574903321CPT1Ac.967+16T>C (n.967+16T>C)
c.223+16T>C (n.223+16T>C)
c.1063+16T>C (n.1063+16T>C)
 gnomAD v4
11g.68793301G>ACA2614737026CPT1Ac.967+14C>T (n.967+14C>T)
c.223+14C>T (n.223+14C>T)
c.1063+14C>T (n.1063+14C>T)
 gnomAD v4
11g.68793301G>TCA2614737028CPT1Ac.967+14C>A (n.967+14C>A)
c.223+14C>A (n.223+14C>A)
c.1063+14C>A (n.1063+14C>A)
 gnomAD v4
11g.68793302A>GCA2697548803CPT1Ac.967+13T>C (n.967+13T>C)
c.223+13T>C (n.223+13T>C)
c.1063+13T>C (n.1063+13T>C)
 ClinVar
11g.68793303A>GCA2614737030CPT1Ac.967+12T>C (n.967+12T>C)
c.223+12T>C (n.223+12T>C)
c.1063+12T>C (n.1063+12T>C)
 gnomAD v4
11g.68793304G>ACA2614737032CPT1Ac.967+11C>T (n.967+11C>T)
c.223+11C>T (n.223+11C>T)
c.1063+11C>T (n.1063+11C>T)
 dbSNP gnomAD v4
11g.68793304G>CCA6152468CPT1Ac.967+11C>G (n.967+11C>G)
c.223+11C>G (n.223+11C>G)
c.1063+11C>G (n.1063+11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched