Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68760147_68760163dupCA2497319448CPT1Ac.2142+65_2142+81dup (n.2142+65_2142+81dup)
c.2238+65_2238+81dup (n.2238+65_2238+81dup)
 dbSNP
11g.68760153G>TCA2614741193CPT1Ac.2142+72C>A (n.2142+72C>A)
c.2238+72C>A (n.2238+72C>A)
 gnomAD v4
11g.68760155delCA2574903065CPT1Ac.2142+72del (n.2142+72del)
c.2238+72del (n.2238+72del)
 gnomAD v4
11g.68760154G>ACA2614741196CPT1Ac.2142+71C>T (n.2142+71C>T)
c.2238+71C>T (n.2238+71C>T)
 gnomAD v4
11g.68760154G>TCA2574903066CPT1Ac.2142+71C>A (n.2142+71C>A)
c.2238+71C>A (n.2238+71C>A)
 gnomAD v4
11g.68760155G>ACA2614741197CPT1Ac.2142+70C>T (n.2142+70C>T)
c.2238+70C>T (n.2238+70C>T)
 gnomAD v4
11g.68760155G>TCA2574903067CPT1Ac.2142+70C>A (n.2142+70C>A)
c.2238+70C>A (n.2238+70C>A)
 gnomAD v4
11g.68760156C>ACA2614741200CPT1Ac.2142+69G>T (n.2142+69G>T)
c.2238+69G>T (n.2238+69G>T)
 gnomAD v4
11g.68760156C>TCA2614741199CPT1Ac.2142+69G>A (n.2142+69G>A)
c.2238+69G>A (n.2238+69G>A)
 gnomAD v4
11g.68760158delCA2614741198CPT1Ac.2142+69del (n.2142+69del)
c.2238+69del (n.2238+69del)
 gnomAD v4
11g.68760157C>TCA2614741201CPT1Ac.2142+68G>A (n.2142+68G>A)
c.2238+68G>A (n.2238+68G>A)
 gnomAD v4
11g.68760158C>ACA2614741203CPT1Ac.2142+67G>T (n.2142+67G>T)
c.2238+67G>T (n.2238+67G>T)
 gnomAD v4
11g.68760158C>TCA2614741202CPT1Ac.2142+67G>A (n.2142+67G>A)
c.2238+67G>A (n.2238+67G>A)
 gnomAD v4
11g.68760159A>TCA2574903068CPT1Ac.2142+66T>A (n.2142+66T>A)
c.2238+66T>A (n.2238+66T>A)
11g.68760160delCA2614741204CPT1Ac.2142+65del (n.2142+65del)
c.2238+65del (n.2238+65del)
 gnomAD v4
11g.68760160T>CCA223365871CPT1Ac.2142+65A>G (n.2142+65A>G)
c.2238+65A>G (n.2238+65A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68760161C>ACA2614741205CPT1Ac.2142+64G>T (n.2142+64G>T)
c.2238+64G>T (n.2238+64G>T)
 gnomAD v4
11g.68760161C>GCA2614741206CPT1Ac.2142+64G>C (n.2142+64G>C)
c.2238+64G>C (n.2238+64G>C)
 gnomAD v4
11g.68760162A>GCA2614741207CPT1Ac.2142+63T>C (n.2142+63T>C)
c.2238+63T>C (n.2238+63T>C)
 dbSNP gnomAD v4
11g.68760163C>TCA223365872CPT1Ac.2142+62G>A (n.2142+62G>A)
c.2238+62G>A (n.2238+62G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68760164A>CCA939165012CPT1Ac.2142+61T>G (n.2142+61T>G)
c.2238+61T>G (n.2238+61T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.68760164A>TCA2574903069CPT1Ac.2142+61T>A (n.2142+61T>A)
c.2238+61T>A (n.2238+61T>A)
 gnomAD v4
11g.68760165C>ACA2614741208CPT1Ac.2142+60G>T (n.2142+60G>T)
c.2238+60G>T (n.2238+60G>T)
 dbSNP gnomAD v4
11g.68760165C>TCA2614741209CPT1Ac.2142+60G>A (n.2142+60G>A)
c.2238+60G>A (n.2238+60G>A)
 gnomAD v4
11g.68760166C>ACA2614741210CPT1Ac.2142+59G>T (n.2142+59G>T)
c.2238+59G>T (n.2238+59G>T)
 gnomAD v4
11g.68760166C>GCA679630814CPT1Ac.2142+59G>C (n.2142+59G>C)
c.2238+59G>C (n.2238+59G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.68760166C>TCA2792552372CPT1Ac.2142+59G>A (n.2142+59G>A)
c.2238+59G>A (n.2238+59G>A)
11g.68760167C>ACA679630815CPT1Ac.2142+58G>T (n.2142+58G>T)
c.2238+58G>T (n.2238+58G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.68760167C>TCA223365874CPT1Ac.2142+58G>A (n.2142+58G>A)
c.2238+58G>A (n.2238+58G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68760168C>ACA2614741211CPT1Ac.2142+57G>T (n.2142+57G>T)
c.2238+57G>T (n.2238+57G>T)
 gnomAD v4
11g.68760168C>TCA2614741212CPT1Ac.2142+57G>A (n.2142+57G>A)
c.2238+57G>A (n.2238+57G>A)
 dbSNP gnomAD v4
11g.68760169A>GCA2614741214CPT1Ac.2142+56T>C (n.2142+56T>C)
c.2238+56T>C (n.2238+56T>C)
 gnomAD v4
11g.68760171delCA2574903070CPT1Ac.2142+55del (n.2142+55del)
c.2238+55del (n.2238+55del)
11g.68760173C>ACA2614741216CPT1Ac.2142+52G>T (n.2142+52G>T)
c.2238+52G>T (n.2238+52G>T)
 gnomAD v4
11g.68760173C>TCA2614741217CPT1Ac.2142+52G>A (n.2142+52G>A)
c.2238+52G>A (n.2238+52G>A)
 gnomAD v4
11g.68760174C>ACA2614741218CPT1Ac.2142+51G>T (n.2142+51G>T)
c.2238+51G>T (n.2238+51G>T)
 gnomAD v4
11g.68760174C>TCA679630816CPT1Ac.2142+51G>A (n.2142+51G>A)
c.2238+51G>A (n.2238+51G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68760175C>ACA2614741220CPT1Ac.2142+50G>T (n.2142+50G>T)
c.2238+50G>T (n.2238+50G>T)
 gnomAD v4
11g.68760175C>TCA599985347CPT1Ac.2142+50G>A (n.2142+50G>A)
c.2238+50G>A (n.2238+50G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68760177T>ACA2614741223CPT1Ac.2142+48A>T (n.2142+48A>T)
c.2238+48A>T (n.2238+48A>T)
 gnomAD v4
11g.68760178C>ACA599985352CPT1Ac.2142+47G>T (n.2142+47G>T)
c.2238+47G>T (n.2238+47G>T)
 dbSNP gnomAD v2
11g.68760178C>TCA599985350CPT1Ac.2142+47G>A (n.2142+47G>A)
c.2238+47G>A (n.2238+47G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68760179C>ACA2614741224CPT1Ac.2142+46G>T (n.2142+46G>T)
c.2238+46G>T (n.2238+46G>T)
 gnomAD v4
11g.68760179C>TCA599985355CPT1Ac.2142+46G>A (n.2142+46G>A)
c.2238+46G>A (n.2238+46G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68760180C>ACA2614741226CPT1Ac.2142+45G>T (n.2142+45G>T)
c.2238+45G>T (n.2238+45G>T)
 gnomAD v4
11g.68760180C>TCA599985358CPT1Ac.2142+45G>A (n.2142+45G>A)
c.2238+45G>A (n.2238+45G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68760181A>GCA2614741228CPT1Ac.2142+44T>C (n.2142+44T>C)
c.2238+44T>C (n.2238+44T>C)
 gnomAD v4
11g.68760183C>TCA939165015CPT1Ac.2142+42G>A (n.2142+42G>A)
c.2238+42G>A (n.2238+42G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68760184A>GCA599985360CPT1Ac.2142+41T>C (n.2142+41T>C)
c.2238+41T>C (n.2238+41T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68760185C>TCA2614741229CPT1Ac.2142+40G>A (n.2142+40G>A)
c.2238+40G>A (n.2238+40G>A)
 dbSNP gnomAD v4
11g.68760186C>ACA2614741231CPT1Ac.2142+39G>T (n.2142+39G>T)
c.2238+39G>T (n.2238+39G>T)
 gnomAD v4
11g.68760188C>ACA6152074CPT1Ac.2142+37G>T (n.2142+37G>T)
c.2238+37G>T (n.2238+37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760188C>TCA6152073CPT1Ac.2142+37G>A (n.2142+37G>A)
c.2238+37G>A (n.2238+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760189G>ACA679630847CPT1Ac.2142+36C>T (n.2142+36C>T)
c.2238+36C>T (n.2238+36C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.68760189G>CCA6152075CPT1Ac.2142+36C>G (n.2142+36C>G)
c.2238+36C>G (n.2238+36C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760189G>TCA2574903071CPT1Ac.2142+36C>A (n.2142+36C>A)
c.2238+36C>A (n.2238+36C>A)
 gnomAD v4
11g.68760190C>ACA6152076CPT1Ac.2142+35G>T (n.2142+35G>T)
c.2238+35G>T (n.2238+35G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760190C>TCA2614741235CPT1Ac.2142+35G>A (n.2142+35G>A)
c.2238+35G>A (n.2238+35G>A)
 gnomAD v4
11g.68760191C>TCA599985373CPT1Ac.2142+34G>A (n.2142+34G>A)
c.2238+34G>A (n.2238+34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68760192C>ACA2792552373CPT1Ac.2142+33G>T (n.2142+33G>T)
c.2238+33G>T (n.2238+33G>T)
11g.68760192C>GCA939165023CPT1Ac.2142+33G>C (n.2142+33G>C)
c.2238+33G>C (n.2238+33G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.68760192C>TCA599985375CPT1Ac.2142+33G>A (n.2142+33G>A)
c.2238+33G>A (n.2238+33G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68760196T>ACA2614741243CPT1Ac.2142+29A>T (n.2142+29A>T)
c.2238+29A>T (n.2238+29A>T)
 gnomAD v4
11g.68760196T>CCA6152077CPT1Ac.2142+29A>G (n.2142+29A>G)
c.2238+29A>G (n.2238+29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760197G>ACA223365883CPT1Ac.2142+28C>T (n.2142+28C>T)
c.2238+28C>T (n.2238+28C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.68760198C>TCA6152078CPT1Ac.2142+27G>A (n.2142+27G>A)
c.2238+27G>A (n.2238+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760199G>ACA6152080CPT1Ac.2142+26C>T (n.2142+26C>T)
c.2238+26C>T (n.2238+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760199G>CCA6152079CPT1Ac.2142+26C>G (n.2142+26C>G)
c.2238+26C>G (n.2238+26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760199G>TCA2614741250CPT1Ac.2142+26C>A (n.2142+26C>A)
c.2238+26C>A (n.2238+26C>A)
 gnomAD v4
11g.68760201C>TCA2614741255CPT1Ac.2142+24G>A (n.2142+24G>A)
c.2238+24G>A (n.2238+24G>A)
 gnomAD v4
11g.68760202_68760205dupCA599985386CPT1Ac.2142+21_2142+24dup (n.2142+21_2142+24dup)
c.2238+21_2238+24dup (n.2238+21_2238+24dup)
 dbSNP gnomAD v2 gnomAD v4
11g.68760202T>ACA2574903072CPT1Ac.2142+23A>T (n.2142+23A>T)
c.2238+23A>T (n.2238+23A>T)
11g.68760202T>CCA2524561698CPT1Ac.2142+23A>G (n.2142+23A>G)
c.2238+23A>G (n.2238+23A>G)
 gnomAD v4
11g.68760203C>TCA6152081CPT1Ac.2142+22G>A (n.2142+22G>A)
c.2238+22G>A (n.2238+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760204G>ACA6152082CPT1Ac.2142+21C>T (n.2142+21C>T)
c.2238+21C>T (n.2238+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760204G>TCA939165048CPT1Ac.2142+21C>A (n.2142+21C>A)
c.2238+21C>A (n.2238+21C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.68760205C>TCA2614741264CPT1Ac.2142+20G>A (n.2142+20G>A)
c.2238+20G>A (n.2238+20G>A)
 gnomAD v4
11g.68760206C>GCA2574903073CPT1Ac.2142+19G>C (n.2142+19G>C)
c.2238+19G>C (n.2238+19G>C)
11g.68760206C>TCA654280339CPT1Ac.2142+19G>A (n.2142+19G>A)
c.2238+19G>A (n.2238+19G>A)
 ClinVar gnomAD v4 COSMIC
11g.68760207C>ACA2614741274CPT1Ac.2142+18G>T (n.2142+18G>T)
c.2238+18G>T (n.2238+18G>T)
 gnomAD v4
11g.68760207C>GCA2614741276CPT1Ac.2142+18G>C (n.2142+18G>C)
c.2238+18G>C (n.2238+18G>C)
 gnomAD v4
11g.68760207C>TCA2614741271CPT1Ac.2142+18G>A (n.2142+18G>A)
c.2238+18G>A (n.2238+18G>A)
 gnomAD v4
11g.68760209G>TCA2614741278CPT1Ac.2142+16C>A (n.2142+16C>A)
c.2238+16C>A (n.2238+16C>A)
 gnomAD v4
11g.68760210C>TCA2614741279CPT1Ac.2142+15G>A (n.2142+15G>A)
c.2238+15G>A (n.2238+15G>A)
 gnomAD v4
11g.68760212C>GCA599985391CPT1Ac.2142+13G>C (n.2142+13G>C)
c.2238+13G>C (n.2238+13G>C)
 dbSNP gnomAD v2
11g.68760212C>TCA2614741281CPT1Ac.2142+13G>A (n.2142+13G>A)
c.2238+13G>A (n.2238+13G>A)
 gnomAD v4
11g.68760213C>ACA2614741287CPT1Ac.2142+12G>T (n.2142+12G>T)
c.2238+12G>T (n.2238+12G>T)
 gnomAD v4
11g.68760213C>GCA599985392CPT1Ac.2142+12G>C (n.2142+12G>C)
c.2238+12G>C (n.2238+12G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.68760213C>TCA6152083CPT1Ac.2142+12G>A (n.2142+12G>A)
c.2238+12G>A (n.2238+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760214G>ACA599985396CPT1Ac.2142+11C>T (n.2142+11C>T)
c.2238+11C>T (n.2238+11C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68760214G>TCA2614741303CPT1Ac.2142+11C>A (n.2142+11C>A)
c.2238+11C>A (n.2238+11C>A)
 gnomAD v4
11g.68760215C>ACA2614741305CPT1Ac.2142+10G>T (n.2142+10G>T)
c.2238+10G>T (n.2238+10G>T)
 gnomAD v4
11g.68760216C>TCA6152084CPT1Ac.2142+9G>A (n.2142+9G>A)
c.2238+9G>A (n.2238+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760217G>ACA6152085CPT1Ac.2142+8C>T (n.2142+8C>T)
c.2238+8C>T (n.2238+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760217G>TCA2499221268CPT1Ac.2142+8C>A (n.2142+8C>A)
c.2238+8C>A (n.2238+8C>A)
 ClinVar dbSNP gnomAD v4
11g.68760218C>TCA599985401CPT1Ac.2142+7G>A (n.2142+7G>A)
c.2238+7G>A (n.2238+7G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.68760219A>GCA6152086CPT1Ac.2142+6T>C (n.2142+6T>C)
c.2238+6T>C (n.2238+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760222C>ACA2614741328CPT1Ac.2142+3G>T (n.2142+3G>T)
c.2238+3G>T (n.2238+3G>T)
 gnomAD v4
11g.68760222C>TCA6152087CPT1Ac.2142+3G>A (n.2142+3G>A)
c.2238+3G>A (n.2238+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760223A>CCA381625738CPT1Ac.2142+2T>G (n.2142+2T>G)
c.2238+2T>G (n.2238+2T>G)
11g.68760223A>GCA381625739CPT1Ac.2142+2T>C (n.2142+2T>C)
c.2238+2T>C (n.2238+2T>C)
 ClinVar
11g.68760223A>TCA381625740CPT1Ac.2142+2T>A (n.2142+2T>A)
c.2238+2T>A (n.2238+2T>A)
11g.68760224C>ACA381625743CPT1Ac.2142+1G>T (n.2142+1G>T)
c.2238+1G>T (n.2238+1G>T)
11g.68760224C>GCA381625741CPT1Ac.2142+1G>C (n.2142+1G>C)
c.2238+1G>C (n.2238+1G>C)
11g.68760224C>TCA381625742CPT1Ac.2142+1G>A (n.2142+1G>A)
c.2238+1G>A (n.2238+1G>A)
 gnomAD v4
11g.68760225C>ACA475181741CPT1Ac.2142G>T (p.Pro714=)
c.2238G>T (p.Pro746=)
 gnomAD v4
11g.68760225C>GCA6152089CPT1Ac.2142G>C (p.Pro714=)
c.2238G>C (p.Pro746=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760225C>TCA6152088CPT1Ac.2142G>A (p.Pro714=)
c.2238G>A (p.Pro746=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760226G>ACA6152090CPT1Ac.2141C>T (p.Pro714Leu)
c.2237C>T (p.Pro746Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760226G>CCA381625744CPT1Ac.2141C>G (p.Pro714Arg)
c.2237C>G (p.Pro746Arg)
11g.68760226G>TCA381625745CPT1Ac.2141C>A (p.Pro714Gln)
c.2237C>A (p.Pro746Gln)
11g.68760227G>ACA381625746CPT1Ac.2140C>T (p.Pro714Ser)
c.2236C>T (p.Pro746Ser)
 gnomAD v4 COSMIC COSMIC
11g.68760227G>CCA381625748CPT1Ac.2140C>G (p.Pro714Ala)
c.2236C>G (p.Pro746Ala)
11g.68760227G>TCA381625747CPT1Ac.2140C>A (p.Pro714Thr)
c.2236C>A (p.Pro746Thr)
11g.68760228T>ACA475181744CPT1Ac.2139A>T (p.Gly713=)
c.2235A>T (p.Gly745=)
11g.68760228T>CCA475181743CPT1Ac.2139A>G (p.Gly713=)
c.2235A>G (p.Gly745=)
11g.68760228T>GCA475181742CPT1Ac.2139A>C (p.Gly713=)
c.2235A>C (p.Gly745=)
11g.68760229C>ACA381625749CPT1Ac.2138G>T (p.Gly713Val)
c.2234G>T (p.Gly745Val)
 ClinVar dbSNP gnomAD v4
11g.68760229C>GCA381625750CPT1Ac.2138G>C (p.Gly713Ala)
c.2234G>C (p.Gly745Ala)
11g.68760229C>TCA381625751CPT1Ac.2138G>A (p.Gly713Glu)
c.2234G>A (p.Gly745Glu)
11g.68760230C>ACA381625752CPT1Ac.2137G>T (p.Gly713Ter)
c.2233G>T (p.Gly745Ter)
11g.68760230C>GCA381625753CPT1Ac.2137G>C (p.Gly713Arg)
c.2233G>C (p.Gly745Arg)
11g.68760230C>TCA381625754CPT1Ac.2137G>A (p.Gly713Arg)
c.2233G>A (p.Gly745Arg)
11g.68760231A>CCA381625755CPT1Ac.2136T>G (p.Phe712Leu)
c.2232T>G (p.Phe744Leu)
11g.68760231A>GCA475181745CPT1Ac.2136T>C (p.Phe712=)
c.2232T>C (p.Phe744=)
 gnomAD v4
11g.68760231A>TCA381625756CPT1Ac.2136T>A (p.Phe712Leu)
c.2232T>A (p.Phe744Leu)
11g.68760233delCA2497319449CPT1Ac.2136del (p.Phe712LeufsTer?)
c.2232del (p.Phe744LeufsTer?)
 ClinVar dbSNP
11g.68760232A>CCA381625757CPT1Ac.2135T>G (p.Phe712Cys)
c.2231T>G (p.Phe744Cys)
11g.68760232A>GCA381625758CPT1Ac.2135T>C (p.Phe712Ser)
c.2231T>C (p.Phe744Ser)
11g.68760232A>TCA381625759CPT1Ac.2135T>A (p.Phe712Tyr)
c.2231T>A (p.Phe744Tyr)
11g.68760233A>CCA381625760CPT1Ac.2134T>G (p.Phe712Val)
c.2230T>G (p.Phe744Val)
11g.68760233A>GCA381625762CPT1Ac.2134T>C (p.Phe712Leu)
c.2230T>C (p.Phe744Leu)
11g.68760233A>TCA381625761CPT1Ac.2134T>A (p.Phe712Ile)
c.2230T>A (p.Phe744Ile)
11g.68760234G>ACA475181746CPT1Ac.2133C>T (p.Gly711=)
c.2229C>T (p.Gly743=)
 dbSNP gnomAD v3 gnomAD v4
11g.68760234G>CCA475181747CPT1Ac.2133C>G (p.Gly711=)
c.2229C>G (p.Gly743=)
11g.68760234G>TCA475181748CPT1Ac.2133C>A (p.Gly711=)
c.2229C>A (p.Gly743=)
11g.68760235C>ACA6152091CPT1Ac.2132G>T (p.Gly711Val)
c.2228G>T (p.Gly743Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760235C>GCA6152092CPT1Ac.2132G>C (p.Gly711Ala)
c.2228G>C (p.Gly743Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760235C>TCA381625763CPT1Ac.2132G>A (p.Gly711Asp)
c.2228G>A (p.Gly743Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.68760236C>ACA381625764CPT1Ac.2131G>T (p.Gly711Cys)
c.2227G>T (p.Gly743Cys)
11g.68760236C>GCA381625766CPT1Ac.2131G>C (p.Gly711Arg)
c.2227G>C (p.Gly743Arg)
11g.68760236C>TCA381625765CPT1Ac.2131G>A (p.Gly711Ser)
c.2227G>A (p.Gly743Ser)
 gnomAD v4
11g.68760237C>ACA475181750CPT1Ac.2130G>T (p.Gly710=)
c.2226G>T (p.Gly742=)
 dbSNP
11g.68760237C>GCA475181751CPT1Ac.2130G>C (p.Gly710=)
c.2226G>C (p.Gly742=)
 gnomAD v4
11g.68760237C>TCA475181752CPT1Ac.2130G>A (p.Gly710=)
c.2226G>A (p.Gly742=)
 ClinVar dbSNP
11g.68760238C>ACA381625767CPT1Ac.2129G>T (p.Gly710Val)
c.2225G>T (p.Gly742Val)
11g.68760238C>GCA381625768CPT1Ac.2129G>C (p.Gly710Ala)
c.2225G>C (p.Gly742Ala)
11g.68760238C>TCA340863CPT1Ac.2129G>A (p.Gly710Glu)
c.2225G>A (p.Gly742Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.68760239C>ACA381625769CPT1Ac.2128G>T (p.Gly710Trp)
c.2224G>T (p.Gly742Trp)
11g.68760239C>GCA381625770CPT1Ac.2128G>C (p.Gly710Arg)
c.2224G>C (p.Gly742Arg)
 ClinVar
11g.68760239C>TCA381625771CPT1Ac.2128G>A (p.Gly710Arg)
c.2224G>A (p.Gly742Arg)
11g.68760240T>ACA475181753CPT1Ac.2127A>T (p.Gly709=)
c.2223A>T (p.Gly741=)
11g.68760240T>CCA475181754CPT1Ac.2127A>G (p.Gly709=)
c.2223A>G (p.Gly741=)
11g.68760240T>GCA475181755CPT1Ac.2127A>C (p.Gly709=)
c.2223A>C (p.Gly741=)
 gnomAD v4
11g.68760241C>ACA381625772CPT1Ac.2126G>T (p.Gly709Val)
c.2222G>T (p.Gly741Val)
 gnomAD v4
11g.68760241C>GCA381625773CPT1Ac.2126G>C (p.Gly709Ala)
c.2222G>C (p.Gly741Ala)
11g.68760241C>TCA340860CPT1Ac.2126G>A (p.Gly709Glu)
c.2222G>A (p.Gly741Glu)
 ClinVar dbSNP gnomAD v4
11g.68760242C>ACA381625774CPT1Ac.2125G>T (p.Gly709Ter)
c.2221G>T (p.Gly741Ter)
11g.68760242C>GCA6152093CPT1Ac.2125G>C (p.Gly709Arg)
c.2221G>C (p.Gly741Arg)
 dbSNP ExAC gnomAD v2
11g.68760242C>TCA223365908CPT1Ac.2125G>A (p.Gly709Arg)
c.2221G>A (p.Gly741Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.68760243G>ACA6152094CPT1Ac.2124C>T (p.Ser708=)
c.2220C>T (p.Ser740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760243G>CCA381625776CPT1Ac.2124C>G (p.Ser708Arg)
c.2220C>G (p.Ser740Arg)
11g.68760243G>TCA381625775CPT1Ac.2124C>A (p.Ser708Arg)
c.2220C>A (p.Ser740Arg)
 ClinVar dbSNP
11g.68760244C>ACA381625777CPT1Ac.2123G>T (p.Ser708Ile)
c.2219G>T (p.Ser740Ile)
11g.68760244C>GCA381625778CPT1Ac.2123G>C (p.Ser708Thr)
c.2219G>C (p.Ser740Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.68760244C>TCA381625779CPT1Ac.2123G>A (p.Ser708Asn)
c.2219G>A (p.Ser740Asn)
11g.68760245T>ACA381625780CPT1Ac.2122A>T (p.Ser708Cys)
c.2218A>T (p.Ser740Cys)
11g.68760245T>CCA381625781CPT1Ac.2122A>G (p.Ser708Gly)
c.2218A>G (p.Ser740Gly)
 ClinVar dbSNP gnomAD v4
11g.68760245T>GCA381625782CPT1Ac.2122A>C (p.Ser708Arg)
c.2218A>C (p.Ser740Arg)
 dbSNP
11g.68760246G>ACA475181757CPT1Ac.2121C>T (p.Ser707=)
c.2217C>T (p.Ser739=)
11g.68760246G>CCA475181758CPT1Ac.2121C>G (p.Ser707=)
c.2217C>G (p.Ser739=)
11g.68760246G>TCA475181759CPT1Ac.2121C>A (p.Ser707=)
c.2217C>A (p.Ser739=)
11g.68760247G>ACA381625783CPT1Ac.2120C>T (p.Ser707Phe)
c.2216C>T (p.Ser739Phe)
11g.68760247G>CCA381625784CPT1Ac.2120C>G (p.Ser707Cys)
c.2216C>G (p.Ser739Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.68760247G>TCA381625785CPT1Ac.2120C>A (p.Ser707Tyr)
c.2216C>A (p.Ser739Tyr)
 gnomAD v4
11g.68760248A>CCA381625787CPT1Ac.2119T>G (p.Ser707Ala)
c.2215T>G (p.Ser739Ala)
11g.68760248A>GCA6152095CPT1Ac.2119T>C (p.Ser707Pro)
c.2215T>C (p.Ser739Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760248A>TCA381625786CPT1Ac.2119T>A (p.Ser707Thr)
c.2215T>A (p.Ser739Thr)
11g.68760249C>ACA475181763CPT1Ac.2118G>T (p.Val706=)
c.2214G>T (p.Val738=)
11g.68760249C>GCA475181762CPT1Ac.2118G>C (p.Val706=)
c.2214G>C (p.Val738=)
11g.68760249C>TCA475181761CPT1Ac.2118G>A (p.Val706=)
c.2214G>A (p.Val738=)
11g.68760250A>CCA381625788CPT1Ac.2117T>G (p.Val706Gly)
c.2213T>G (p.Val738Gly)
11g.68760250A>GCA381625789CPT1Ac.2117T>C (p.Val706Ala)
c.2213T>C (p.Val738Ala)
11g.68760250A>TCA381625790CPT1Ac.2117T>A (p.Val706Glu)
c.2213T>A (p.Val738Glu)
 dbSNP gnomAD v4
11g.68760251C>ACA381625791CPT1Ac.2116G>T (p.Val706Leu)
c.2212G>T (p.Val738Leu)
11g.68760251C>GCA381625792CPT1Ac.2116G>C (p.Val706Leu)
c.2212G>C (p.Val738Leu)
 gnomAD v4
11g.68760251C>TCA6152096CPT1Ac.2116G>A (p.Val706Met)
c.2212G>A (p.Val738Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68760252G>ACA6152097CPT1Ac.2115C>T (p.Tyr705=)
c.2211C>T (p.Tyr737=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68760252G>CCA381625793CPT1Ac.2115C>G (p.Tyr705Ter)
c.2211C>G (p.Tyr737Ter)
11g.68760252G>TCA381625794CPT1Ac.2115C>A (p.Tyr705Ter)
c.2211C>A (p.Tyr737Ter)
11g.68760253T>ACA381625795CPT1Ac.2114A>T (p.Tyr705Phe)
c.2210A>T (p.Tyr737Phe)
11g.68760253T>CCA381625796CPT1Ac.2114A>G (p.Tyr705Cys)
c.2210A>G (p.Tyr737Cys)
11g.68760253T>GCA381625797CPT1Ac.2114A>C (p.Tyr705Ser)
c.2210A>C (p.Tyr737Ser)

Number of alleles fetched