Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68760147_68760163dup | CA2497319448 | CPT1A | c.2142+65_2142+81dup (n.2142+65_2142+81dup) c.2238+65_2238+81dup (n.2238+65_2238+81dup) | dbSNP |
11 | g.68760153G>T | CA2614741193 | CPT1A | c.2142+72C>A (n.2142+72C>A) c.2238+72C>A (n.2238+72C>A) | gnomAD v4 |
11 | g.68760155del | CA2574903065 | CPT1A | c.2142+72del (n.2142+72del) c.2238+72del (n.2238+72del) | gnomAD v4 |
11 | g.68760154G>A | CA2614741196 | CPT1A | c.2142+71C>T (n.2142+71C>T) c.2238+71C>T (n.2238+71C>T) | gnomAD v4 |
11 | g.68760154G>T | CA2574903066 | CPT1A | c.2142+71C>A (n.2142+71C>A) c.2238+71C>A (n.2238+71C>A) | gnomAD v4 |
11 | g.68760155G>A | CA2614741197 | CPT1A | c.2142+70C>T (n.2142+70C>T) c.2238+70C>T (n.2238+70C>T) | gnomAD v4 |
11 | g.68760155G>T | CA2574903067 | CPT1A | c.2142+70C>A (n.2142+70C>A) c.2238+70C>A (n.2238+70C>A) | gnomAD v4 |
11 | g.68760156C>A | CA2614741200 | CPT1A | c.2142+69G>T (n.2142+69G>T) c.2238+69G>T (n.2238+69G>T) | gnomAD v4 |
11 | g.68760156C>T | CA2614741199 | CPT1A | c.2142+69G>A (n.2142+69G>A) c.2238+69G>A (n.2238+69G>A) | gnomAD v4 |
11 | g.68760158dup | CA2842886002 | CPT1A | c.2142+69dup (n.2142+69dup) c.2238+69dup (n.2238+69dup) | |
11 | g.68760158del | CA2614741198 | CPT1A | c.2142+69del (n.2142+69del) c.2238+69del (n.2238+69del) | gnomAD v4 |
11 | g.68760157C>T | CA2614741201 | CPT1A | c.2142+68G>A (n.2142+68G>A) c.2238+68G>A (n.2238+68G>A) | gnomAD v4 |
11 | g.68760158C>A | CA2614741203 | CPT1A | c.2142+67G>T (n.2142+67G>T) c.2238+67G>T (n.2238+67G>T) | gnomAD v4 |
11 | g.68760158C>T | CA2614741202 | CPT1A | c.2142+67G>A (n.2142+67G>A) c.2238+67G>A (n.2238+67G>A) | gnomAD v4 |
11 | g.68760159A>T | CA2574903068 | CPT1A | c.2142+66T>A (n.2142+66T>A) c.2238+66T>A (n.2238+66T>A) | |
11 | g.68760160del | CA2614741204 | CPT1A | c.2142+65del (n.2142+65del) c.2238+65del (n.2238+65del) | gnomAD v4 |
11 | g.68760160T>C | CA223365871 | CPT1A | c.2142+65A>G (n.2142+65A>G) c.2238+65A>G (n.2238+65A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760161C>A | CA2614741205 | CPT1A | c.2142+64G>T (n.2142+64G>T) c.2238+64G>T (n.2238+64G>T) | gnomAD v4 |
11 | g.68760161C>G | CA2614741206 | CPT1A | c.2142+64G>C (n.2142+64G>C) c.2238+64G>C (n.2238+64G>C) | gnomAD v4 |
11 | g.68760162A>G | CA2614741207 | CPT1A | c.2142+63T>C (n.2142+63T>C) c.2238+63T>C (n.2238+63T>C) | dbSNP gnomAD v4 |
11 | g.68760163C>T | CA223365872 | CPT1A | c.2142+62G>A (n.2142+62G>A) c.2238+62G>A (n.2238+62G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760164A>C | CA939165012 | CPT1A | c.2142+61T>G (n.2142+61T>G) c.2238+61T>G (n.2238+61T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760164A>T | CA2574903069 | CPT1A | c.2142+61T>A (n.2142+61T>A) c.2238+61T>A (n.2238+61T>A) | gnomAD v4 |
11 | g.68760165C>A | CA2614741208 | CPT1A | c.2142+60G>T (n.2142+60G>T) c.2238+60G>T (n.2238+60G>T) | dbSNP gnomAD v4 |
11 | g.68760165C>T | CA2614741209 | CPT1A | c.2142+60G>A (n.2142+60G>A) c.2238+60G>A (n.2238+60G>A) | gnomAD v4 |
11 | g.68760166C>A | CA2614741210 | CPT1A | c.2142+59G>T (n.2142+59G>T) c.2238+59G>T (n.2238+59G>T) | gnomAD v4 |
11 | g.68760166C>G | CA679630814 | CPT1A | c.2142+59G>C (n.2142+59G>C) c.2238+59G>C (n.2238+59G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760166C>T | CA2792552372 | CPT1A | c.2142+59G>A (n.2142+59G>A) c.2238+59G>A (n.2238+59G>A) | |
11 | g.68760167C>A | CA679630815 | CPT1A | c.2142+58G>T (n.2142+58G>T) c.2238+58G>T (n.2238+58G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760167C>T | CA223365874 | CPT1A | c.2142+58G>A (n.2142+58G>A) c.2238+58G>A (n.2238+58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760168C>A | CA2614741211 | CPT1A | c.2142+57G>T (n.2142+57G>T) c.2238+57G>T (n.2238+57G>T) | gnomAD v4 |
11 | g.68760168C>T | CA2614741212 | CPT1A | c.2142+57G>A (n.2142+57G>A) c.2238+57G>A (n.2238+57G>A) | dbSNP gnomAD v4 |
11 | g.68760169A>G | CA2614741214 | CPT1A | c.2142+56T>C (n.2142+56T>C) c.2238+56T>C (n.2238+56T>C) | gnomAD v4 |
11 | g.68760171del | CA2574903070 | CPT1A | c.2142+55del (n.2142+55del) c.2238+55del (n.2238+55del) | |
11 | g.68760173C>A | CA2614741216 | CPT1A | c.2142+52G>T (n.2142+52G>T) c.2238+52G>T (n.2238+52G>T) | gnomAD v4 |
11 | g.68760173C>T | CA2614741217 | CPT1A | c.2142+52G>A (n.2142+52G>A) c.2238+52G>A (n.2238+52G>A) | gnomAD v4 |
11 | g.68760174C>A | CA2614741218 | CPT1A | c.2142+51G>T (n.2142+51G>T) c.2238+51G>T (n.2238+51G>T) | gnomAD v4 |
11 | g.68760174C>T | CA679630816 | CPT1A | c.2142+51G>A (n.2142+51G>A) c.2238+51G>A (n.2238+51G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760175C>A | CA2614741220 | CPT1A | c.2142+50G>T (n.2142+50G>T) c.2238+50G>T (n.2238+50G>T) | gnomAD v4 |
11 | g.68760175C>T | CA599985347 | CPT1A | c.2142+50G>A (n.2142+50G>A) c.2238+50G>A (n.2238+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760177T>A | CA2614741223 | CPT1A | c.2142+48A>T (n.2142+48A>T) c.2238+48A>T (n.2238+48A>T) | gnomAD v4 |
11 | g.68760178C>A | CA599985352 | CPT1A | c.2142+47G>T (n.2142+47G>T) c.2238+47G>T (n.2238+47G>T) | dbSNP gnomAD v2 |
11 | g.68760178C>T | CA599985350 | CPT1A | c.2142+47G>A (n.2142+47G>A) c.2238+47G>A (n.2238+47G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760179C>A | CA2614741224 | CPT1A | c.2142+46G>T (n.2142+46G>T) c.2238+46G>T (n.2238+46G>T) | gnomAD v4 |
11 | g.68760179C>T | CA599985355 | CPT1A | c.2142+46G>A (n.2142+46G>A) c.2238+46G>A (n.2238+46G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760180C>A | CA2614741226 | CPT1A | c.2142+45G>T (n.2142+45G>T) c.2238+45G>T (n.2238+45G>T) | gnomAD v4 |
11 | g.68760180C>T | CA599985358 | CPT1A | c.2142+45G>A (n.2142+45G>A) c.2238+45G>A (n.2238+45G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760181A>G | CA2614741228 | CPT1A | c.2142+44T>C (n.2142+44T>C) c.2238+44T>C (n.2238+44T>C) | gnomAD v4 |
11 | g.68760183C>T | CA939165015 | CPT1A | c.2142+42G>A (n.2142+42G>A) c.2238+42G>A (n.2238+42G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760184A>G | CA599985360 | CPT1A | c.2142+41T>C (n.2142+41T>C) c.2238+41T>C (n.2238+41T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760185C>T | CA2614741229 | CPT1A | c.2142+40G>A (n.2142+40G>A) c.2238+40G>A (n.2238+40G>A) | dbSNP gnomAD v4 |
11 | g.68760186C>A | CA2614741231 | CPT1A | c.2142+39G>T (n.2142+39G>T) c.2238+39G>T (n.2238+39G>T) | gnomAD v4 |
11 | g.68760188C>A | CA6152074 | CPT1A | c.2142+37G>T (n.2142+37G>T) c.2238+37G>T (n.2238+37G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760188C>T | CA6152073 | CPT1A | c.2142+37G>A (n.2142+37G>A) c.2238+37G>A (n.2238+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760189G>A | CA679630847 | CPT1A | c.2142+36C>T (n.2142+36C>T) c.2238+36C>T (n.2238+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760189G>C | CA6152075 | CPT1A | c.2142+36C>G (n.2142+36C>G) c.2238+36C>G (n.2238+36C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760189G>T | CA2574903071 | CPT1A | c.2142+36C>A (n.2142+36C>A) c.2238+36C>A (n.2238+36C>A) | gnomAD v4 |
11 | g.68760190C>A | CA6152076 | CPT1A | c.2142+35G>T (n.2142+35G>T) c.2238+35G>T (n.2238+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760190C>T | CA2614741235 | CPT1A | c.2142+35G>A (n.2142+35G>A) c.2238+35G>A (n.2238+35G>A) | gnomAD v4 |
11 | g.68760193del | CA2842886003 | CPT1A | c.2142+35del (n.2142+35del) c.2238+35del (n.2238+35del) | |
11 | g.68760191C>T | CA599985373 | CPT1A | c.2142+34G>A (n.2142+34G>A) c.2238+34G>A (n.2238+34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760192C>A | CA2792552373 | CPT1A | c.2142+33G>T (n.2142+33G>T) c.2238+33G>T (n.2238+33G>T) | |
11 | g.68760192C>G | CA939165023 | CPT1A | c.2142+33G>C (n.2142+33G>C) c.2238+33G>C (n.2238+33G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760192C>T | CA599985375 | CPT1A | c.2142+33G>A (n.2142+33G>A) c.2238+33G>A (n.2238+33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760195dup | CA2839661218 | CPT1A | c.2142+30dup (n.2142+30dup) c.2238+30dup (n.2238+30dup) | |
11 | g.68760196T>A | CA2614741243 | CPT1A | c.2142+29A>T (n.2142+29A>T) c.2238+29A>T (n.2238+29A>T) | gnomAD v4 |
11 | g.68760196T>C | CA6152077 | CPT1A | c.2142+29A>G (n.2142+29A>G) c.2238+29A>G (n.2238+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760197G>A | CA223365883 | CPT1A | c.2142+28C>T (n.2142+28C>T) c.2238+28C>T (n.2238+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760198C>T | CA6152078 | CPT1A | c.2142+27G>A (n.2142+27G>A) c.2238+27G>A (n.2238+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760199G>A | CA6152080 | CPT1A | c.2142+26C>T (n.2142+26C>T) c.2238+26C>T (n.2238+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760199G>C | CA6152079 | CPT1A | c.2142+26C>G (n.2142+26C>G) c.2238+26C>G (n.2238+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760199G>T | CA2614741250 | CPT1A | c.2142+26C>A (n.2142+26C>A) c.2238+26C>A (n.2238+26C>A) | gnomAD v4 |
11 | g.68760201C>T | CA2614741255 | CPT1A | c.2142+24G>A (n.2142+24G>A) c.2238+24G>A (n.2238+24G>A) | gnomAD v4 |
11 | g.68760202_68760205dup | CA599985386 | CPT1A | c.2142+21_2142+24dup (n.2142+21_2142+24dup) c.2238+21_2238+24dup (n.2238+21_2238+24dup) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760202T>A | CA2574903072 | CPT1A | c.2142+23A>T (n.2142+23A>T) c.2238+23A>T (n.2238+23A>T) | |
11 | g.68760202T>C | CA2524561698 | CPT1A | c.2142+23A>G (n.2142+23A>G) c.2238+23A>G (n.2238+23A>G) | gnomAD v4 |
11 | g.68760203C>T | CA6152081 | CPT1A | c.2142+22G>A (n.2142+22G>A) c.2238+22G>A (n.2238+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760204G>A | CA6152082 | CPT1A | c.2142+21C>T (n.2142+21C>T) c.2238+21C>T (n.2238+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760204G>T | CA939165048 | CPT1A | c.2142+21C>A (n.2142+21C>A) c.2238+21C>A (n.2238+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760205C>T | CA2614741264 | CPT1A | c.2142+20G>A (n.2142+20G>A) c.2238+20G>A (n.2238+20G>A) | gnomAD v4 |
11 | g.68760206C>G | CA2574903073 | CPT1A | c.2142+19G>C (n.2142+19G>C) c.2238+19G>C (n.2238+19G>C) | |
11 | g.68760206C>T | CA654280339 | CPT1A | c.2142+19G>A (n.2142+19G>A) c.2238+19G>A (n.2238+19G>A) | ClinVar gnomAD v4 COSMIC |
11 | g.68760207C>A | CA2614741274 | CPT1A | c.2142+18G>T (n.2142+18G>T) c.2238+18G>T (n.2238+18G>T) | gnomAD v4 |
11 | g.68760207C>G | CA2614741276 | CPT1A | c.2142+18G>C (n.2142+18G>C) c.2238+18G>C (n.2238+18G>C) | gnomAD v4 |
11 | g.68760207C>T | CA2614741271 | CPT1A | c.2142+18G>A (n.2142+18G>A) c.2238+18G>A (n.2238+18G>A) | gnomAD v4 |
11 | g.68760209G>T | CA2614741278 | CPT1A | c.2142+16C>A (n.2142+16C>A) c.2238+16C>A (n.2238+16C>A) | gnomAD v4 |
11 | g.68760210C>T | CA2614741279 | CPT1A | c.2142+15G>A (n.2142+15G>A) c.2238+15G>A (n.2238+15G>A) | gnomAD v4 |
11 | g.68760212C>G | CA599985391 | CPT1A | c.2142+13G>C (n.2142+13G>C) c.2238+13G>C (n.2238+13G>C) | dbSNP gnomAD v2 |
11 | g.68760212C>T | CA2614741281 | CPT1A | c.2142+13G>A (n.2142+13G>A) c.2238+13G>A (n.2238+13G>A) | gnomAD v4 |
11 | g.68760213C>A | CA2614741287 | CPT1A | c.2142+12G>T (n.2142+12G>T) c.2238+12G>T (n.2238+12G>T) | gnomAD v4 |
11 | g.68760213C>G | CA599985392 | CPT1A | c.2142+12G>C (n.2142+12G>C) c.2238+12G>C (n.2238+12G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760213C>T | CA6152083 | CPT1A | c.2142+12G>A (n.2142+12G>A) c.2238+12G>A (n.2238+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760214G>A | CA599985396 | CPT1A | c.2142+11C>T (n.2142+11C>T) c.2238+11C>T (n.2238+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760214G>T | CA2614741303 | CPT1A | c.2142+11C>A (n.2142+11C>A) c.2238+11C>A (n.2238+11C>A) | gnomAD v4 |
11 | g.68760215C>A | CA2614741305 | CPT1A | c.2142+10G>T (n.2142+10G>T) c.2238+10G>T (n.2238+10G>T) | gnomAD v4 |
11 | g.68760216C>T | CA6152084 | CPT1A | c.2142+9G>A (n.2142+9G>A) c.2238+9G>A (n.2238+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760217G>A | CA6152085 | CPT1A | c.2142+8C>T (n.2142+8C>T) c.2238+8C>T (n.2238+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760217G>T | CA2499221268 | CPT1A | c.2142+8C>A (n.2142+8C>A) c.2238+8C>A (n.2238+8C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.68760218C>T | CA599985401 | CPT1A | c.2142+7G>A (n.2142+7G>A) c.2238+7G>A (n.2238+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760219A>G | CA6152086 | CPT1A | c.2142+6T>C (n.2142+6T>C) c.2238+6T>C (n.2238+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760222C>A | CA2614741328 | CPT1A | c.2142+3G>T (n.2142+3G>T) c.2238+3G>T (n.2238+3G>T) | gnomAD v4 |
11 | g.68760222C>T | CA6152087 | CPT1A | c.2142+3G>A (n.2142+3G>A) c.2238+3G>A (n.2238+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760223A>C | CA381625738 | CPT1A | c.2142+2T>G (n.2142+2T>G) c.2238+2T>G (n.2238+2T>G) | |
11 | g.68760223A>G | CA381625739 | CPT1A | c.2142+2T>C (n.2142+2T>C) c.2238+2T>C (n.2238+2T>C) | ClinVar |
11 | g.68760223A>T | CA381625740 | CPT1A | c.2142+2T>A (n.2142+2T>A) c.2238+2T>A (n.2238+2T>A) | |
11 | g.68760224C>A | CA381625743 | CPT1A | c.2142+1G>T (n.2142+1G>T) c.2238+1G>T (n.2238+1G>T) | |
11 | g.68760224C>G | CA381625741 | CPT1A | c.2142+1G>C (n.2142+1G>C) c.2238+1G>C (n.2238+1G>C) | |
11 | g.68760224C>T | CA381625742 | CPT1A | c.2142+1G>A (n.2142+1G>A) c.2238+1G>A (n.2238+1G>A) | gnomAD v4 |
11 | g.68760225C>A | CA475181741 | CPT1A | c.2142G>T (p.Pro714=) c.2238G>T (p.Pro746=) | gnomAD v4 |
11 | g.68760225C>G | CA6152089 | CPT1A | c.2142G>C (p.Pro714=) c.2238G>C (p.Pro746=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760225C>T | CA6152088 | CPT1A | c.2142G>A (p.Pro714=) c.2238G>A (p.Pro746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760226G>A | CA6152090 | CPT1A | c.2141C>T (p.Pro714Leu) c.2237C>T (p.Pro746Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760226G>C | CA381625744 | CPT1A | c.2141C>G (p.Pro714Arg) c.2237C>G (p.Pro746Arg) | |
11 | g.68760226G>T | CA381625745 | CPT1A | c.2141C>A (p.Pro714Gln) c.2237C>A (p.Pro746Gln) | |
11 | g.68760227G>A | CA381625746 | CPT1A | c.2140C>T (p.Pro714Ser) c.2236C>T (p.Pro746Ser) | gnomAD v4 COSMIC COSMIC |
11 | g.68760227G>C | CA381625748 | CPT1A | c.2140C>G (p.Pro714Ala) c.2236C>G (p.Pro746Ala) | |
11 | g.68760227G>T | CA381625747 | CPT1A | c.2140C>A (p.Pro714Thr) c.2236C>A (p.Pro746Thr) | |
11 | g.68760228T>A | CA475181744 | CPT1A | c.2139A>T (p.Gly713=) c.2235A>T (p.Gly745=) | |
11 | g.68760228T>C | CA475181743 | CPT1A | c.2139A>G (p.Gly713=) c.2235A>G (p.Gly745=) | |
11 | g.68760228T>G | CA475181742 | CPT1A | c.2139A>C (p.Gly713=) c.2235A>C (p.Gly745=) | |
11 | g.68760229C>A | CA381625749 | CPT1A | c.2138G>T (p.Gly713Val) c.2234G>T (p.Gly745Val) | ClinVar dbSNP gnomAD v4 |
11 | g.68760229C>G | CA381625750 | CPT1A | c.2138G>C (p.Gly713Ala) c.2234G>C (p.Gly745Ala) | |
11 | g.68760229C>T | CA381625751 | CPT1A | c.2138G>A (p.Gly713Glu) c.2234G>A (p.Gly745Glu) | |
11 | g.68760230C>A | CA381625752 | CPT1A | c.2137G>T (p.Gly713Ter) c.2233G>T (p.Gly745Ter) | |
11 | g.68760230C>G | CA381625753 | CPT1A | c.2137G>C (p.Gly713Arg) c.2233G>C (p.Gly745Arg) | |
11 | g.68760230C>T | CA381625754 | CPT1A | c.2137G>A (p.Gly713Arg) c.2233G>A (p.Gly745Arg) | |
11 | g.68760231A>C | CA381625755 | CPT1A | c.2136T>G (p.Phe712Leu) c.2232T>G (p.Phe744Leu) | |
11 | g.68760231A>G | CA475181745 | CPT1A | c.2136T>C (p.Phe712=) c.2232T>C (p.Phe744=) | gnomAD v4 |
11 | g.68760231A>T | CA381625756 | CPT1A | c.2136T>A (p.Phe712Leu) c.2232T>A (p.Phe744Leu) | |
11 | g.68760233del | CA2497319449 | CPT1A | c.2136del (p.Phe712LeufsTer?) c.2232del (p.Phe744LeufsTer?) | ClinVar dbSNP |
11 | g.68760232A>C | CA381625757 | CPT1A | c.2135T>G (p.Phe712Cys) c.2231T>G (p.Phe744Cys) | |
11 | g.68760232A>G | CA381625758 | CPT1A | c.2135T>C (p.Phe712Ser) c.2231T>C (p.Phe744Ser) | |
11 | g.68760232A>T | CA381625759 | CPT1A | c.2135T>A (p.Phe712Tyr) c.2231T>A (p.Phe744Tyr) | |
11 | g.68760233A>C | CA381625760 | CPT1A | c.2134T>G (p.Phe712Val) c.2230T>G (p.Phe744Val) | |
11 | g.68760233A>G | CA381625762 | CPT1A | c.2134T>C (p.Phe712Leu) c.2230T>C (p.Phe744Leu) | |
11 | g.68760233A>T | CA381625761 | CPT1A | c.2134T>A (p.Phe712Ile) c.2230T>A (p.Phe744Ile) | |
11 | g.68760234G>A | CA475181746 | CPT1A | c.2133C>T (p.Gly711=) c.2229C>T (p.Gly743=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760234G>C | CA475181747 | CPT1A | c.2133C>G (p.Gly711=) c.2229C>G (p.Gly743=) | |
11 | g.68760234G>T | CA475181748 | CPT1A | c.2133C>A (p.Gly711=) c.2229C>A (p.Gly743=) | |
11 | g.68760235C>A | CA6152091 | CPT1A | c.2132G>T (p.Gly711Val) c.2228G>T (p.Gly743Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760235C>G | CA6152092 | CPT1A | c.2132G>C (p.Gly711Ala) c.2228G>C (p.Gly743Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760235C>T | CA381625763 | CPT1A | c.2132G>A (p.Gly711Asp) c.2228G>A (p.Gly743Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760236C>A | CA381625764 | CPT1A | c.2131G>T (p.Gly711Cys) c.2227G>T (p.Gly743Cys) | |
11 | g.68760236C>G | CA381625766 | CPT1A | c.2131G>C (p.Gly711Arg) c.2227G>C (p.Gly743Arg) | |
11 | g.68760236C>T | CA381625765 | CPT1A | c.2131G>A (p.Gly711Ser) c.2227G>A (p.Gly743Ser) | gnomAD v4 |
11 | g.68760237C>A | CA475181750 | CPT1A | c.2130G>T (p.Gly710=) c.2226G>T (p.Gly742=) | dbSNP |
11 | g.68760237C>G | CA475181751 | CPT1A | c.2130G>C (p.Gly710=) c.2226G>C (p.Gly742=) | gnomAD v4 |
11 | g.68760237C>T | CA475181752 | CPT1A | c.2130G>A (p.Gly710=) c.2226G>A (p.Gly742=) | ClinVar dbSNP |
11 | g.68760238C>A | CA381625767 | CPT1A | c.2129G>T (p.Gly710Val) c.2225G>T (p.Gly742Val) | |
11 | g.68760238C>G | CA381625768 | CPT1A | c.2129G>C (p.Gly710Ala) c.2225G>C (p.Gly742Ala) | |
11 | g.68760238C>T | CA340863 | CPT1A | c.2129G>A (p.Gly710Glu) c.2225G>A (p.Gly742Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.68760239C>A | CA381625769 | CPT1A | c.2128G>T (p.Gly710Trp) c.2224G>T (p.Gly742Trp) | |
11 | g.68760239C>G | CA381625770 | CPT1A | c.2128G>C (p.Gly710Arg) c.2224G>C (p.Gly742Arg) | ClinVar |
11 | g.68760239C>T | CA381625771 | CPT1A | c.2128G>A (p.Gly710Arg) c.2224G>A (p.Gly742Arg) | |
11 | g.68760240T>A | CA475181753 | CPT1A | c.2127A>T (p.Gly709=) c.2223A>T (p.Gly741=) | |
11 | g.68760240T>C | CA475181754 | CPT1A | c.2127A>G (p.Gly709=) c.2223A>G (p.Gly741=) | |
11 | g.68760240T>G | CA475181755 | CPT1A | c.2127A>C (p.Gly709=) c.2223A>C (p.Gly741=) | gnomAD v4 |
11 | g.68760241C>A | CA381625772 | CPT1A | c.2126G>T (p.Gly709Val) c.2222G>T (p.Gly741Val) | gnomAD v4 |
11 | g.68760241C>G | CA381625773 | CPT1A | c.2126G>C (p.Gly709Ala) c.2222G>C (p.Gly741Ala) | |
11 | g.68760241C>T | CA340860 | CPT1A | c.2126G>A (p.Gly709Glu) c.2222G>A (p.Gly741Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.68760242C>A | CA381625774 | CPT1A | c.2125G>T (p.Gly709Ter) c.2221G>T (p.Gly741Ter) | |
11 | g.68760242C>G | CA6152093 | CPT1A | c.2125G>C (p.Gly709Arg) c.2221G>C (p.Gly741Arg) | dbSNP ExAC gnomAD v2 |
11 | g.68760242C>T | CA223365908 | CPT1A | c.2125G>A (p.Gly709Arg) c.2221G>A (p.Gly741Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.68760243G>A | CA6152094 | CPT1A | c.2124C>T (p.Ser708=) c.2220C>T (p.Ser740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760243G>C | CA381625776 | CPT1A | c.2124C>G (p.Ser708Arg) c.2220C>G (p.Ser740Arg) | |
11 | g.68760243G>T | CA381625775 | CPT1A | c.2124C>A (p.Ser708Arg) c.2220C>A (p.Ser740Arg) | ClinVar dbSNP |
11 | g.68760244C>A | CA381625777 | CPT1A | c.2123G>T (p.Ser708Ile) c.2219G>T (p.Ser740Ile) | |
11 | g.68760244C>G | CA381625778 | CPT1A | c.2123G>C (p.Ser708Thr) c.2219G>C (p.Ser740Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760244C>T | CA381625779 | CPT1A | c.2123G>A (p.Ser708Asn) c.2219G>A (p.Ser740Asn) | |
11 | g.68760245T>A | CA381625780 | CPT1A | c.2122A>T (p.Ser708Cys) c.2218A>T (p.Ser740Cys) | |
11 | g.68760245T>C | CA381625781 | CPT1A | c.2122A>G (p.Ser708Gly) c.2218A>G (p.Ser740Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.68760245T>G | CA381625782 | CPT1A | c.2122A>C (p.Ser708Arg) c.2218A>C (p.Ser740Arg) | dbSNP |
11 | g.68760246G>A | CA475181757 | CPT1A | c.2121C>T (p.Ser707=) c.2217C>T (p.Ser739=) | |
11 | g.68760246G>C | CA475181758 | CPT1A | c.2121C>G (p.Ser707=) c.2217C>G (p.Ser739=) | |
11 | g.68760246G>T | CA475181759 | CPT1A | c.2121C>A (p.Ser707=) c.2217C>A (p.Ser739=) | |
11 | g.68760247G>A | CA381625783 | CPT1A | c.2120C>T (p.Ser707Phe) c.2216C>T (p.Ser739Phe) | |
11 | g.68760247G>C | CA381625784 | CPT1A | c.2120C>G (p.Ser707Cys) c.2216C>G (p.Ser739Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68760247G>T | CA381625785 | CPT1A | c.2120C>A (p.Ser707Tyr) c.2216C>A (p.Ser739Tyr) | gnomAD v4 |
11 | g.68760248A>C | CA381625787 | CPT1A | c.2119T>G (p.Ser707Ala) c.2215T>G (p.Ser739Ala) | |
11 | g.68760248A>G | CA6152095 | CPT1A | c.2119T>C (p.Ser707Pro) c.2215T>C (p.Ser739Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760248A>T | CA381625786 | CPT1A | c.2119T>A (p.Ser707Thr) c.2215T>A (p.Ser739Thr) | |
11 | g.68760249C>A | CA475181763 | CPT1A | c.2118G>T (p.Val706=) c.2214G>T (p.Val738=) | |
11 | g.68760249C>G | CA475181762 | CPT1A | c.2118G>C (p.Val706=) c.2214G>C (p.Val738=) | |
11 | g.68760249C>T | CA475181761 | CPT1A | c.2118G>A (p.Val706=) c.2214G>A (p.Val738=) | |
11 | g.68760250A>C | CA381625788 | CPT1A | c.2117T>G (p.Val706Gly) c.2213T>G (p.Val738Gly) | |
11 | g.68760250A>G | CA381625789 | CPT1A | c.2117T>C (p.Val706Ala) c.2213T>C (p.Val738Ala) | |
11 | g.68760250A>T | CA381625790 | CPT1A | c.2117T>A (p.Val706Glu) c.2213T>A (p.Val738Glu) | dbSNP gnomAD v4 |
11 | g.68760251C>A | CA381625791 | CPT1A | c.2116G>T (p.Val706Leu) c.2212G>T (p.Val738Leu) | |
11 | g.68760251C>G | CA381625792 | CPT1A | c.2116G>C (p.Val706Leu) c.2212G>C (p.Val738Leu) | gnomAD v4 |
11 | g.68760251C>T | CA6152096 | CPT1A | c.2116G>A (p.Val706Met) c.2212G>A (p.Val738Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760252G>A | CA6152097 | CPT1A | c.2115C>T (p.Tyr705=) c.2211C>T (p.Tyr737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68760252G>C | CA381625793 | CPT1A | c.2115C>G (p.Tyr705Ter) c.2211C>G (p.Tyr737Ter) | |
11 | g.68760252G>T | CA381625794 | CPT1A | c.2115C>A (p.Tyr705Ter) c.2211C>A (p.Tyr737Ter) |