Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68793271_68793283del | CA2614736916 | CPT1A | c.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 |
11 | g.68793278C>A | CA6152458 | CPT1A | c.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 |
11 | g.68793278C= | CA2581028862 | CPT1A | c.967+37G= (n.967+37G=) c.223+37G= (n.223+37G=) c.1063+37G= (n.1063+37G=) | |
11 | g.68793278C>G | CA223384511 | CPT1A | c.967+37G>C (n.967+37G>C) c.223+37G>C (n.223+37G>C) c.1063+37G>C (n.1063+37G>C) | dbSNP |
11 | g.68793278C>T | CA6152459 | CPT1A | c.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 |
11 | g.68793279C>A | CA2614736947 | CPT1A | c.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 |
11 | g.68793279C>T | CA6152460 | CPT1A | c.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 |
11 | g.68793280G>A | CA6152461 | CPT1A | c.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 |
11 | g.68793280G>C | CA6152462 | CPT1A | c.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 |
11 | g.68793280G>T | CA2574903317 | CPT1A | c.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 |
11 | g.68793283T>C | CA6152463 | CPT1A | c.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 |
11 | g.68793284C>G | CA223384587 | CPT1A | c.967+31G>C (n.967+31G>C) c.223+31G>C (n.223+31G>C) c.1063+31G>C (n.1063+31G>C) | dbSNP |
11 | g.68793286C>A | CA2614736957 | CPT1A | c.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 |
11 | g.68793286C>G | CA2614736962 | CPT1A | c.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 |
11 | g.68793286C>T | CA679632382 | CPT1A | c.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 |
11 | g.68793287C>A | CA2614736966 | CPT1A | c.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 |
11 | g.68793287C>T | CA599990505 | CPT1A | c.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 |
11 | g.68793288A>C | CA2614736967 | CPT1A | c.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 |
11 | g.68793288A>G | CA2614736968 | CPT1A | c.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 |
11 | g.68793288A>T | CA2614736969 | CPT1A | c.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 |
11 | g.68793289G>A | CA6152464 | CPT1A | c.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 |
11 | g.68793289G>C | CA2614736982 | CPT1A | c.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 |
11 | g.68793289G>T | CA2614736983 | CPT1A | c.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 |
11 | g.68793293dup | CA2614736974 | CPT1A | c.967+26dup (n.967+26dup) c.223+26dup (n.223+26dup) c.1063+26dup (n.1063+26dup) | gnomAD v4 |
11 | g.68793293del | CA2614736976 | CPT1A | c.967+26del (n.967+26del) c.223+26del (n.223+26del) c.1063+26del (n.1063+26del) | gnomAD v4 |
11 | g.68793291_68793293del | CA2614736978 | CPT1A | c.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 |
11 | g.68793290G>A | CA2574903318 | CPT1A | c.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 |
11 | g.68793290G>C | CA2614736986 | CPT1A | c.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 |
11 | g.68793290G>T | CA2614736987 | CPT1A | c.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 |
11 | g.68793291G>C | CA2574903319 | CPT1A | c.967+24C>G (n.967+24C>G) c.223+24C>G (n.223+24C>G) c.1063+24C>G (n.1063+24C>G) | |
11 | g.68793291G>T | CA2614736991 | CPT1A | c.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 |
11 | g.68793292G>C | CA6152465 | CPT1A | c.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 |
11 | g.68793292G>T | CA2614736996 | CPT1A | c.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 |
11 | g.68793293G>A | CA6152466 | CPT1A | c.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 |
11 | g.68793293G>C | CA2574903320 | CPT1A | c.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 |
11 | g.68793293G>T | CA679632390 | CPT1A | c.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 |
11 | g.68793294C>A | CA2614737006 | CPT1A | c.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 |
11 | g.68793294C>G | CA2614737007 | CPT1A | c.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 |
11 | g.68793294C>T | CA679632394 | CPT1A | c.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 |
11 | g.68793296del | CA2614737004 | CPT1A | c.967+21del (n.967+21del) c.223+21del (n.223+21del) c.1063+21del (n.1063+21del) | gnomAD v4 |
11 | g.68793295C>A | CA2614737018 | CPT1A | c.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 |
11 | g.68793295C>G | CA2614737020 | CPT1A | c.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 |
11 | g.68793295C>T | CA599990506 | CPT1A | c.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 |
11 | g.68793296C>A | CA2614737022 | CPT1A | c.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 |
11 | g.68793297T>C | CA2614737023 | CPT1A | c.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 |
11 | g.68793297T>G | CA2614737024 | CPT1A | c.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 |
11 | g.68793298G>A | CA6152467 | CPT1A | c.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 |
11 | g.68793298G>T | CA2614737025 | CPT1A | c.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 |
11 | g.68793299A>G | CA2574903321 | CPT1A | c.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 |
11 | g.68793301G>A | CA2614737026 | CPT1A | c.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 |
11 | g.68793301G>T | CA2614737028 | CPT1A | c.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 |
11 | g.68793302A>G | CA2697548803 | CPT1A | c.967+13T>C (n.967+13T>C) c.223+13T>C (n.223+13T>C) c.1063+13T>C (n.1063+13T>C) | ClinVar |
11 | g.68793303A>G | CA2614737030 | CPT1A | c.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 |
11 | g.68793304G>A | CA2614737032 | CPT1A | c.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 |
11 | g.68793304G>C | CA6152468 | CPT1A | c.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 |
11 | g.68793305C>A | CA2614737039 | CPT1A | c.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 |
11 | g.68793305C>G | CA6152470 | CPT1A | c.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 |
11 | g.68793305C>T | CA6152469 | CPT1A | c.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 |
11 | g.68793306T>C | CA6152471 | CPT1A | c.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 |
11 | g.68793307T>C | CA6152472 | CPT1A | c.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 |
11 | g.68793308G>A | CA2574903322 | CPT1A | c.967+7C>T (n.967+7C>T) c.223+7C>T (n.223+7C>T) c.1063+7C>T (n.1063+7C>T) | |
11 | g.68793308G>T | CA2614737051 | CPT1A | c.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 |
11 | g.68793309A>G | CA2724287870 | CPT1A | c.967+6T>C (n.967+6T>C) c.223+6T>C (n.223+6T>C) c.1063+6T>C (n.1063+6T>C) | dbSNP |
11 | g.68793309A>T | CA2614737052 | CPT1A | c.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 |
11 | g.68793312C>A | CA2581028864 | CPT1A | c.967+3G>T (n.967+3G>T) c.223+3G>T (n.223+3G>T) c.1063+3G>T (n.1063+3G>T) | |
11 | g.68793312C= | CA2581028865 | CPT1A | c.967+3G= (n.967+3G=) c.223+3G= (n.223+3G=) c.1063+3G= (n.1063+3G=) | |
11 | g.68793312C>G | CA2581028863 | CPT1A | c.967+3G>C (n.967+3G>C) c.223+3G>C (n.223+3G>C) c.1063+3G>C (n.1063+3G>C) | |
11 | g.68793312C>T | CA285506 | CPT1A | c.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 |
11 | g.68793313A>C | CA381634131 | CPT1A | c.967+2T>G (n.967+2T>G) c.223+2T>G (n.223+2T>G) c.1063+2T>G (n.1063+2T>G) | |
11 | g.68793313A>G | CA381634132 | CPT1A | c.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 |
11 | g.68793313A>T | CA381634133 | CPT1A | c.967+2T>A (n.967+2T>A) c.223+2T>A (n.223+2T>A) c.1063+2T>A (n.1063+2T>A) | |
11 | g.68793314C>A | CA381634135 | CPT1A | c.967+1G>T (n.967+1G>T) c.223+1G>T (n.223+1G>T) c.1063+1G>T (n.1063+1G>T) | |
11 | g.68793314C>G | CA381634134 | CPT1A | c.967+1G>C (n.967+1G>C) c.223+1G>C (n.223+1G>C) c.1063+1G>C (n.1063+1G>C) | |
11 | g.68793314C>T | CA16041538 | CPT1A | c.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 |
11 | g.68793315C>A | CA381634136 | CPT1A | c.967G>T (p.Asp323Tyr) c.223G>T (p.Asp75Tyr) c.1063G>T (p.Asp355Tyr) | |
11 | g.68793315C>G | CA381634137 | CPT1A | c.967G>C (p.Asp323His) c.223G>C (p.Asp75His) c.1063G>C (p.Asp355His) | |
11 | g.68793315C>T | CA381634138 | CPT1A | c.967G>A (p.Asp323Asn) c.223G>A (p.Asp75Asn) c.1063G>A (p.Asp355Asn) | |
11 | g.68793316T>A | CA475201890 | CPT1A | c.966A>T (p.Thr322=) c.222A>T (p.Thr74=) c.1062A>T (p.Thr354=) | gnomAD v4 |
11 | g.68793316T>C | CA475201895 | CPT1A | c.966A>G (p.Thr322=) c.222A>G (p.Thr74=) c.1062A>G (p.Thr354=) | gnomAD v4 |
11 | g.68793316T>G | CA475201897 | CPT1A | c.966A>C (p.Thr322=) c.222A>C (p.Thr74=) c.1062A>C (p.Thr354=) | gnomAD v4 |
11 | g.68793317G>A | CA381634139 | CPT1A | c.965C>T (p.Thr322Ile) c.221C>T (p.Thr74Ile) c.1061C>T (p.Thr354Ile) | |
11 | g.68793317G>C | CA381634140 | CPT1A | c.965C>G (p.Thr322Arg) c.221C>G (p.Thr74Arg) c.1061C>G (p.Thr354Arg) | |
11 | g.68793317G>T | CA381634141 | CPT1A | c.965C>A (p.Thr322Lys) c.221C>A (p.Thr74Lys) c.1061C>A (p.Thr354Lys) | gnomAD v4 |
11 | g.68793318T>A | CA381634142 | CPT1A | c.964A>T (p.Thr322Ser) c.220A>T (p.Thr74Ser) c.1060A>T (p.Thr354Ser) | gnomAD v4 |
11 | g.68793318T>C | CA381634143 | CPT1A | c.964A>G (p.Thr322Ala) c.220A>G (p.Thr74Ala) c.1060A>G (p.Thr354Ala) | |
11 | g.68793318T>G | CA381634144 | CPT1A | c.964A>C (p.Thr322Pro) c.220A>C (p.Thr74Pro) c.1060A>C (p.Thr354Pro) | |
11 | g.68793319C>A | CA381634145 | CPT1A | c.963G>T (p.Glu321Asp) c.219G>T (p.Glu73Asp) c.1059G>T (p.Glu353Asp) | |
11 | g.68793319C= | CA2497029511 | CPT1A | c.963G= (p.Glu321=) c.219G= (p.Glu73=) c.1059G= (p.Glu353=) | |
11 | g.68793319C>G | CA381634146 | CPT1A | c.963G>C (p.Glu321Asp) c.219G>C (p.Glu73Asp) c.1059G>C (p.Glu353Asp) | |
11 | g.68793319C>T | CA285503 | CPT1A | c.963G>A (p.Glu321=) c.219G>A (p.Glu73=) c.1059G>A (p.Glu353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793320T>A | CA381634149 | CPT1A | c.962A>T (p.Glu321Val) c.218A>T (p.Glu73Val) c.1058A>T (p.Glu353Val) | |
11 | g.68793320T>C | CA381634147 | CPT1A | c.962A>G (p.Glu321Gly) c.218A>G (p.Glu73Gly) c.1058A>G (p.Glu353Gly) | |
11 | g.68793320T>G | CA381634148 | CPT1A | c.962A>C (p.Glu321Ala) c.218A>C (p.Glu73Ala) c.1058A>C (p.Glu353Ala) | |
11 | g.68793321C>A | CA381634150 | CPT1A | c.961G>T (p.Glu321Ter) c.217G>T (p.Glu73Ter) c.1057G>T (p.Glu353Ter) | |
11 | g.68793321C>G | CA381634151 | CPT1A | c.961G>C (p.Glu321Gln) c.217G>C (p.Glu73Gln) c.1057G>C (p.Glu353Gln) | |
11 | g.68793321C>T | CA6152473 | CPT1A | c.961G>A (p.Glu321Lys) c.217G>A (p.Glu73Lys) c.1057G>A (p.Glu353Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793322C>A | CA381634152 | CPT1A | c.960G>T (p.Glu320Asp) c.216G>T (p.Glu72Asp) c.1056G>T (p.Glu352Asp) | |
11 | g.68793322C>G | CA381634153 | CPT1A | c.960G>C (p.Glu320Asp) c.216G>C (p.Glu72Asp) c.1056G>C (p.Glu352Asp) | |
11 | g.68793322C>T | CA475201927 | CPT1A | c.960G>A (p.Glu320=) c.216G>A (p.Glu72=) c.1056G>A (p.Glu352=) | gnomAD v4 |
11 | g.68793323T>A | CA381634154 | CPT1A | c.959A>T (p.Glu320Val) c.215A>T (p.Glu72Val) c.1055A>T (p.Glu352Val) | |
11 | g.68793323T>C | CA381634155 | CPT1A | c.959A>G (p.Glu320Gly) c.215A>G (p.Glu72Gly) c.1055A>G (p.Glu352Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793323T>G | CA381634156 | CPT1A | c.959A>C (p.Glu320Ala) c.215A>C (p.Glu72Ala) c.1055A>C (p.Glu352Ala) | |
11 | g.68793324C>A | CA381634157 | CPT1A | c.958G>T (p.Glu320Ter) c.214G>T (p.Glu72Ter) c.1054G>T (p.Glu352Ter) | gnomAD v4 |
11 | g.68793324C>G | CA381634158 | CPT1A | c.958G>C (p.Glu320Gln) c.214G>C (p.Glu72Gln) c.1054G>C (p.Glu352Gln) | |
11 | g.68793324C>T | CA381634159 | CPT1A | c.958G>A (p.Glu320Lys) c.214G>A (p.Glu72Lys) c.1054G>A (p.Glu352Lys) | |
11 | g.68793325T>A | CA475201948 | CPT1A | c.957A>T (p.Gly319=) c.213A>T (p.Gly71=) c.1053A>T (p.Gly351=) | |
11 | g.68793325T>C | CA6152474 | CPT1A | c.957A>G (p.Gly319=) c.213A>G (p.Gly71=) c.1053A>G (p.Gly351=) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.68793325T>G | CA475201951 | CPT1A | c.957A>C (p.Gly319=) c.213A>C (p.Gly71=) c.1053A>C (p.Gly351=) | |
11 | g.68793326C>A | CA381634161 | CPT1A | c.956G>T (p.Gly319Val) c.212G>T (p.Gly71Val) c.1052G>T (p.Gly351Val) | |
11 | g.68793326C>G | CA381634162 | CPT1A | c.956G>C (p.Gly319Ala) c.212G>C (p.Gly71Ala) c.1052G>C (p.Gly351Ala) | |
11 | g.68793326C>T | CA381634160 | CPT1A | c.956G>A (p.Gly319Glu) c.212G>A (p.Gly71Glu) c.1052G>A (p.Gly351Glu) | |
11 | g.68793327C>A | CA381634165 | CPT1A | c.955G>T (p.Gly319Ter) c.211G>T (p.Gly71Ter) c.1051G>T (p.Gly351Ter) | |
11 | g.68793327C>G | CA381634163 | CPT1A | c.955G>C (p.Gly319Arg) c.211G>C (p.Gly71Arg) c.1051G>C (p.Gly351Arg) | |
11 | g.68793327C>T | CA381634164 | CPT1A | c.955G>A (p.Gly319Arg) c.211G>A (p.Gly71Arg) c.1051G>A (p.Gly351Arg) | COSMIC |
11 | g.68793328T>A | CA475201965 | CPT1A | c.954A>T (p.Pro318=) c.210A>T (p.Pro70=) c.1050A>T (p.Pro350=) | |
11 | g.68793328T>C | CA475201971 | CPT1A | c.954A>G (p.Pro318=) c.210A>G (p.Pro70=) c.1050A>G (p.Pro350=) | |
11 | g.68793328T>G | CA475201969 | CPT1A | c.954A>C (p.Pro318=) c.210A>C (p.Pro70=) c.1050A>C (p.Pro350=) | |
11 | g.68793329G>A | CA381634166 | CPT1A | c.953C>T (p.Pro318Leu) c.209C>T (p.Pro70Leu) c.1049C>T (p.Pro350Leu) | |
11 | g.68793329G>C | CA381634167 | CPT1A | c.953C>G (p.Pro318Arg) c.209C>G (p.Pro70Arg) c.1049C>G (p.Pro350Arg) | COSMIC COSMIC |
11 | g.68793329G>T | CA381634168 | CPT1A | c.953C>A (p.Pro318Gln) c.209C>A (p.Pro70Gln) c.1049C>A (p.Pro350Gln) | gnomAD v4 |
11 | g.68793330G>A | CA381634169 | CPT1A | c.952C>T (p.Pro318Ser) c.208C>T (p.Pro70Ser) c.1048C>T (p.Pro350Ser) | |
11 | g.68793330G>C | CA381634170 | CPT1A | c.952C>G (p.Pro318Ala) c.208C>G (p.Pro70Ala) c.1048C>G (p.Pro350Ala) | |
11 | g.68793330G>T | CA381634171 | CPT1A | c.952C>A (p.Pro318Thr) c.208C>A (p.Pro70Thr) c.1048C>A (p.Pro350Thr) | |
11 | g.68793331G>A | CA475201980 | CPT1A | c.951C>T (p.Ile317=) c.207C>T (p.Ile69=) c.1047C>T (p.Ile349=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793331G>C | CA381634172 | CPT1A | c.951C>G (p.Ile317Met) c.207C>G (p.Ile69Met) c.1047C>G (p.Ile349Met) | gnomAD v4 |
11 | g.68793331G>T | CA475201983 | CPT1A | c.951C>A (p.Ile317=) c.207C>A (p.Ile69=) c.1047C>A (p.Ile349=) | |
11 | g.68793332A>C | CA381634173 | CPT1A | c.950T>G (p.Ile317Ser) c.206T>G (p.Ile69Ser) c.1046T>G (p.Ile349Ser) | |
11 | g.68793332A>G | CA381634174 | CPT1A | c.950T>C (p.Ile317Thr) c.206T>C (p.Ile69Thr) c.1046T>C (p.Ile349Thr) | |
11 | g.68793332A>T | CA381634175 | CPT1A | c.950T>A (p.Ile317Asn) c.206T>A (p.Ile69Asn) c.1046T>A (p.Ile349Asn) | |
11 | g.68793333T>A | CA381634178 | CPT1A | c.949A>T (p.Ile317Phe) c.205A>T (p.Ile69Phe) c.1045A>T (p.Ile349Phe) | |
11 | g.68793333T>C | CA381634177 | CPT1A | c.949A>G (p.Ile317Val) c.205A>G (p.Ile69Val) c.1045A>G (p.Ile349Val) | |
11 | g.68793333T>G | CA381634176 | CPT1A | c.949A>C (p.Ile317Leu) c.205A>C (p.Ile69Leu) c.1045A>C (p.Ile349Leu) | |
11 | g.68793334C>A | CA475201993 | CPT1A | c.948G>T (p.Arg316=) c.204G>T (p.Arg68=) c.1044G>T (p.Arg348=) | gnomAD v4 |
11 | g.68793334C>G | CA475201996 | CPT1A | c.948G>C (p.Arg316=) c.204G>C (p.Arg68=) c.1044G>C (p.Arg348=) | |
11 | g.68793334C>T | CA475201998 | CPT1A | c.948G>A (p.Arg316=) c.204G>A (p.Arg68=) c.1044G>A (p.Arg348=) | |
11 | g.68793335del | CA340862 | CPT1A | c.948del (p.Ile317SerfsTer12) c.204del (p.Ile69SerfsTer?) c.1044del (p.Ile349SerfsTer12) | ClinVar dbSNP gnomAD v4 |
11 | g.68793335C>A | CA381634179 | CPT1A | c.947G>T (p.Arg316Leu) c.203G>T (p.Arg68Leu) c.1043G>T (p.Arg348Leu) | |
11 | g.68793335C>G | CA381634180 | CPT1A | c.947G>C (p.Arg316Pro) c.203G>C (p.Arg68Pro) c.1043G>C (p.Arg348Pro) | |
11 | g.68793335C>T | CA223384641 | CPT1A | c.947G>A (p.Arg316Gln) c.203G>A (p.Arg68Gln) c.1043G>A (p.Arg348Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793336G>A | CA381634181 | CPT1A | c.946C>T (p.Arg316Trp) c.202C>T (p.Arg68Trp) c.1042C>T (p.Arg348Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793336G>C | CA344991 | CPT1A | c.946C>G (p.Arg316Gly) c.202C>G (p.Arg68Gly) c.1042C>G (p.Arg348Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793336G>T | CA475202010 | CPT1A | c.946C>A (p.Arg316=) c.202C>A (p.Arg68=) c.1042C>A (p.Arg348=) | |
11 | g.68793338del | CA2614737151 | CPT1A | c.946del (p.Arg316GlyfsTer13) c.202del (p.Arg68GlyfsTer?) c.1042del (p.Arg348GlyfsTer13) | gnomAD v4 |
11 | g.68793337G>A | CA475202019 | CPT1A | c.945C>T (p.Ser315=) c.201C>T (p.Ser67=) c.1041C>T (p.Ser347=) | |
11 | g.68793337G>C | CA223384649 | CPT1A | c.945C>G (p.Ser315=) c.201C>G (p.Ser67=) c.1041C>G (p.Ser347=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793337G>T | CA475202014 | CPT1A | c.945C>A (p.Ser315=) c.201C>A (p.Ser67=) c.1041C>A (p.Ser347=) | |
11 | g.68793338G>A | CA381634182 | CPT1A | c.944C>T (p.Ser315Phe) c.200C>T (p.Ser67Phe) c.1040C>T (p.Ser347Phe) | |
11 | g.68793338G>C | CA381634183 | CPT1A | c.944C>G (p.Ser315Cys) c.200C>G (p.Ser67Cys) c.1040C>G (p.Ser347Cys) | |
11 | g.68793338G>T | CA381634184 | CPT1A | c.944C>A (p.Ser315Tyr) c.200C>A (p.Ser67Tyr) c.1040C>A (p.Ser347Tyr) | |
11 | g.68793339A>C | CA381634185 | CPT1A | c.943T>G (p.Ser315Ala) c.199T>G (p.Ser67Ala) c.1039T>G (p.Ser347Ala) | |
11 | g.68793339A>G | CA6152475 | CPT1A | c.943T>C (p.Ser315Pro) c.199T>C (p.Ser67Pro) c.1039T>C (p.Ser347Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793339A>T | CA381634186 | CPT1A | c.943T>A (p.Ser315Thr) c.199T>A (p.Ser67Thr) c.1039T>A (p.Ser347Thr) | |
11 | g.68793340A>C | CA475202032 | CPT1A | c.942T>G (p.Thr314=) c.198T>G (p.Thr66=) c.1038T>G (p.Thr346=) | |
11 | g.68793340A>G | CA475202033 | CPT1A | c.942T>C (p.Thr314=) c.198T>C (p.Thr66=) c.1038T>C (p.Thr346=) | |
11 | g.68793340A>T | CA475202036 | CPT1A | c.942T>A (p.Thr314=) c.198T>A (p.Thr66=) c.1038T>A (p.Thr346=) | |
11 | g.68793341G>A | CA344989 | CPT1A | c.941C>T (p.Thr314Ile) c.197C>T (p.Thr66Ile) c.1037C>T (p.Thr346Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.68793341G>C | CA381634188 | CPT1A | c.941C>G (p.Thr314Ser) c.197C>G (p.Thr66Ser) c.1037C>G (p.Thr346Ser) | |
11 | g.68793341G= | CA2838029067 | CPT1A | c.941C= (p.Thr314=) c.197C= (p.Thr66=) c.1037C= (p.Thr346=) | |
11 | g.68793341G>T | CA381634187 | CPT1A | c.941C>A (p.Thr314Asn) c.197C>A (p.Thr66Asn) c.1037C>A (p.Thr346Asn) | |
11 | g.68793342T>A | CA381634189 | CPT1A | c.940A>T (p.Thr314Ser) c.196A>T (p.Thr66Ser) c.1036A>T (p.Thr346Ser) | |
11 | g.68793342T>C | CA381634190 | CPT1A | c.940A>G (p.Thr314Ala) c.196A>G (p.Thr66Ala) c.1036A>G (p.Thr346Ala) | COSMIC COSMIC |
11 | g.68793342T>G | CA381634191 | CPT1A | c.940A>C (p.Thr314Pro) c.196A>C (p.Thr66Pro) c.1036A>C (p.Thr346Pro) | |
11 | g.68793343A>C | CA381634192 | CPT1A | c.939T>G (p.Asn313Lys) c.195T>G (p.Asn65Lys) c.1035T>G (p.Asn345Lys) | |
11 | g.68793343A>G | CA475202051 | CPT1A | c.939T>C (p.Asn313=) c.195T>C (p.Asn65=) c.1035T>C (p.Asn345=) | gnomAD v4 |
11 | g.68793343A>T | CA381634193 | CPT1A | c.939T>A (p.Asn313Lys) c.195T>A (p.Asn65Lys) c.1035T>A (p.Asn345Lys) | |
11 | g.68793344T>A | CA381634194 | CPT1A | c.938A>T (p.Asn313Ile) c.194A>T (p.Asn65Ile) c.1034A>T (p.Asn345Ile) | |
11 | g.68793344T>C | CA381634195 | CPT1A | c.938A>G (p.Asn313Ser) c.194A>G (p.Asn65Ser) c.1034A>G (p.Asn345Ser) | gnomAD v4 |
11 | g.68793344T>G | CA381634196 | CPT1A | c.938A>C (p.Asn313Thr) c.194A>C (p.Asn65Thr) c.1034A>C (p.Asn345Thr) | |
11 | g.68793345T>A | CA381634197 | CPT1A | c.937A>T (p.Asn313Tyr) c.193A>T (p.Asn65Tyr) c.1033A>T (p.Asn345Tyr) | |
11 | g.68793345T>C | CA381634198 | CPT1A | c.937A>G (p.Asn313Asp) c.193A>G (p.Asn65Asp) c.1033A>G (p.Asn345Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.68793345T>G | CA381634199 | CPT1A | c.937A>C (p.Asn313His) c.193A>C (p.Asn65His) c.1033A>C (p.Asn345His) | |
11 | g.68793346A>C | CA381634200 | CPT1A | c.936T>G (p.Phe312Leu) c.192T>G (p.Phe64Leu) c.1032T>G (p.Phe344Leu) | |
11 | g.68793346A>G | CA475202062 | CPT1A | c.936T>C (p.Phe312=) c.192T>C (p.Phe64=) c.1032T>C (p.Phe344=) | |
11 | g.68793346A>T | CA381634201 | CPT1A | c.936T>A (p.Phe312Leu) c.192T>A (p.Phe64Leu) c.1032T>A (p.Phe344Leu) | |
11 | g.68793347A>C | CA381634204 | CPT1A | c.935T>G (p.Phe312Cys) c.191T>G (p.Phe64Cys) c.1031T>G (p.Phe344Cys) | |
11 | g.68793347A>G | CA381634202 | CPT1A | c.935T>C (p.Phe312Ser) c.191T>C (p.Phe64Ser) c.1031T>C (p.Phe344Ser) | |
11 | g.68793347A>T | CA381634203 | CPT1A | c.935T>A (p.Phe312Tyr) c.191T>A (p.Phe64Tyr) c.1031T>A (p.Phe344Tyr) | |
11 | g.68793348A>C | CA381634205 | CPT1A | c.934T>G (p.Phe312Val) c.190T>G (p.Phe64Val) c.1030T>G (p.Phe344Val) | |
11 | g.68793348A>G | CA381634206 | CPT1A | c.934T>C (p.Phe312Leu) c.190T>C (p.Phe64Leu) c.1030T>C (p.Phe344Leu) | COSMIC COSMIC |
11 | g.68793348A>T | CA381634207 | CPT1A | c.934T>A (p.Phe312Ile) c.190T>A (p.Phe64Ile) c.1030T>A (p.Phe344Ile) | |
11 | g.68793349C>A | CA381634208 | CPT1A | c.933G>T (p.Met311Ile) c.189G>T (p.Met63Ile) c.1029G>T (p.Met343Ile) | |
11 | g.68793349C>G | CA381634209 | CPT1A | c.933G>C (p.Met311Ile) c.189G>C (p.Met63Ile) c.1029G>C (p.Met343Ile) | |
11 | g.68793349C>T | CA6152476 | CPT1A | c.933G>A (p.Met311Ile) c.189G>A (p.Met63Ile) c.1029G>A (p.Met343Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793350A>C | CA381634210 | CPT1A | c.932T>G (p.Met311Arg) c.188T>G (p.Met63Arg) c.1028T>G (p.Met343Arg) | |
11 | g.68793350A>G | CA6152477 | CPT1A | c.932T>C (p.Met311Thr) c.188T>C (p.Met63Thr) c.1028T>C (p.Met343Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793350A>T | CA381634211 | CPT1A | c.932T>A (p.Met311Lys) c.188T>A (p.Met63Lys) c.1028T>A (p.Met343Lys) | |
11 | g.68793351T>A | CA381634212 | CPT1A | c.931A>T (p.Met311Leu) c.187A>T (p.Met63Leu) c.1027A>T (p.Met343Leu) | |
11 | g.68793351T>C | CA381634213 | CPT1A | c.931A>G (p.Met311Val) c.187A>G (p.Met63Val) c.1027A>G (p.Met343Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793351T>G | CA381634214 | CPT1A | c.931A>C (p.Met311Leu) c.187A>C (p.Met63Leu) c.1027A>C (p.Met343Leu) | |
11 | g.68793352C>A | CA475202094 | CPT1A | c.930G>T (p.Arg310=) c.186G>T (p.Arg62=) c.1026G>T (p.Arg342=) | |
11 | g.68793352C>G | CA6152478 | CPT1A | c.930G>C (p.Arg310=) c.186G>C (p.Arg62=) c.1026G>C (p.Arg342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793352C>T | CA475202098 | CPT1A | c.930G>A (p.Arg310=) c.186G>A (p.Arg62=) c.1026G>A (p.Arg342=) | |
11 | g.68793353C>A | CA381634215 | CPT1A | c.929G>T (p.Arg310Leu) c.185G>T (p.Arg62Leu) c.1025G>T (p.Arg342Leu) | |
11 | g.68793353C>G | CA381634216 | CPT1A | c.929G>C (p.Arg310Pro) c.185G>C (p.Arg62Pro) c.1025G>C (p.Arg342Pro) | |
11 | g.68793353C>T | CA6152479 | CPT1A | c.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 |
11 | g.68793354G>A | CA6152480 | CPT1A | c.928C>T (p.Arg310Trp) c.184C>T (p.Arg62Trp) c.1024C>T (p.Arg342Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793354G>C | CA381634217 | CPT1A | c.928C>G (p.Arg310Gly) c.184C>G (p.Arg62Gly) c.1024C>G (p.Arg342Gly) | |
11 | g.68793354G>T | CA475202115 | CPT1A | c.928C>A (p.Arg310=) c.184C>A (p.Arg62=) c.1024C>A (p.Arg342=) | gnomAD v4 |
11 | g.68793355C>A | CA381634218 | CPT1A | c.927G>T (p.Glu309Asp) c.183G>T (p.Glu61Asp) c.1023G>T (p.Glu341Asp) | ClinVar |
11 | g.68793355C>G | CA381634219 | CPT1A | c.927G>C (p.Glu309Asp) c.183G>C (p.Glu61Asp) c.1023G>C (p.Glu341Asp) | |
11 | g.68793355C>T | CA475202120 | CPT1A | c.927G>A (p.Glu309=) c.183G>A (p.Glu61=) c.1023G>A (p.Glu341=) | |
11 | g.68793356T>A | CA381634220 | CPT1A | c.926A>T (p.Glu309Val) c.182A>T (p.Glu61Val) c.1022A>T (p.Glu341Val) | |
11 | g.68793356T>C | CA381634221 | CPT1A | c.926A>G (p.Glu309Gly) c.182A>G (p.Glu61Gly) c.1022A>G (p.Glu341Gly) | |
11 | g.68793356T>G | CA381634222 | CPT1A | c.926A>C (p.Glu309Ala) c.182A>C (p.Glu61Ala) c.1022A>C (p.Glu341Ala) | |
11 | g.68793357C>A | CA381634223 | CPT1A | c.925G>T (p.Glu309Ter) c.181G>T (p.Glu61Ter) c.1021G>T (p.Glu341Ter) | |
11 | g.68793357C>G | CA381634224 | CPT1A | c.925G>C (p.Glu309Gln) c.181G>C (p.Glu61Gln) c.1021G>C (p.Glu341Gln) | |
11 | g.68793357C>T | CA381634225 | CPT1A | c.925G>A (p.Glu309Lys) c.181G>A (p.Glu61Lys) c.1021G>A (p.Glu341Lys) | |
11 | g.68793358C>A | CA381634226 | CPT1A | c.924G>T (p.Trp308Cys) c.180G>T (p.Trp60Cys) c.1020G>T (p.Trp340Cys) | |
11 | g.68793358C>G | CA381634227 | CPT1A | c.924G>C (p.Trp308Cys) c.180G>C (p.Trp60Cys) c.1020G>C (p.Trp340Cys) | |
11 | g.68793358C>T | CA381634228 | CPT1A | c.924G>A (p.Trp308Ter) c.180G>A (p.Trp60Ter) c.1020G>A (p.Trp340Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.68793359C>A | CA381634231 | CPT1A | c.923G>T (p.Trp308Leu) c.179G>T (p.Trp60Leu) c.1019G>T (p.Trp340Leu) | gnomAD v4 |
11 | g.68793359C>G | CA381634230 | CPT1A | c.923G>C (p.Trp308Ser) c.179G>C (p.Trp60Ser) c.1019G>C (p.Trp340Ser) | |
11 | g.68793359C>T | CA381634229 | CPT1A | c.923G>A (p.Trp308Ter) c.179G>A (p.Trp60Ter) c.1019G>A (p.Trp340Ter) | COSMIC |
11 | g.68793360A>C | CA381634232 | CPT1A | c.922T>G (p.Trp308Gly) c.178T>G (p.Trp60Gly) c.1018T>G (p.Trp340Gly) | |
11 | g.68793360A>G | CA381634233 | CPT1A | c.922T>C (p.Trp308Arg) c.178T>C (p.Trp60Arg) c.1018T>C (p.Trp340Arg) | |
11 | g.68793360A>T | CA381634234 | CPT1A | c.922T>A (p.Trp308Arg) c.178T>A (p.Trp60Arg) c.1018T>A (p.Trp340Arg) | |
11 | g.68793361C>A | CA381634235 | CPT1A | c.921G>T (p.Gln307His) c.177G>T (p.Gln59His) c.1017G>T (p.Gln339His) | dbSNP |
11 | g.68793361C>G | CA381634236 | CPT1A | c.921G>C (p.Gln307His) c.177G>C (p.Gln59His) c.1017G>C (p.Gln339His) | |
11 | g.68793361C>T | CA475202150 | CPT1A | c.921G>A (p.Gln307=) c.177G>A (p.Gln59=) c.1017G>A (p.Gln339=) | ClinVar |
11 | g.68793362T>A | CA381634237 | CPT1A | c.920A>T (p.Gln307Leu) c.176A>T (p.Gln59Leu) c.1016A>T (p.Gln339Leu) | |
11 | g.68793362T>C | CA381634238 | CPT1A | c.920A>G (p.Gln307Arg) c.176A>G (p.Gln59Arg) c.1016A>G (p.Gln339Arg) | gnomAD v4 |
11 | g.68793362T>G | CA381634239 | CPT1A | c.920A>C (p.Gln307Pro) c.176A>C (p.Gln59Pro) c.1016A>C (p.Gln339Pro) | |
11 | g.68793363G>A | CA16041539 | CPT1A | c.919C>T (p.Gln307Ter) c.175C>T (p.Gln59Ter) c.1015C>T (p.Gln339Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.68793363G>C | CA381634240 | CPT1A | c.919C>G (p.Gln307Glu) c.175C>G (p.Gln59Glu) c.1015C>G (p.Gln339Glu) | |
11 | g.68793363G>T | CA381634241 | CPT1A | c.919C>A (p.Gln307Lys) c.175C>A (p.Gln59Lys) c.1015C>A (p.Gln339Lys) | gnomAD v4 |
11 | g.68793364A>C | CA475202166 | CPT1A | c.918T>G (p.Ala306=) c.174T>G (p.Ala58=) c.1014T>G (p.Ala338=) | |
11 | g.68793364A>G | CA475202167 | CPT1A | c.918T>C (p.Ala306=) c.174T>C (p.Ala58=) c.1014T>C (p.Ala338=) | gnomAD v4 |
11 | g.68793364A>T | CA475202169 | CPT1A | c.918T>A (p.Ala306=) c.174T>A (p.Ala58=) c.1014T>A (p.Ala338=) | |
11 | g.68793365G>A | CA6152481 | CPT1A | c.917C>T (p.Ala306Val) c.173C>T (p.Ala58Val) c.1013C>T (p.Ala338Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793365G>C | CA381634242 | CPT1A | c.917C>G (p.Ala306Gly) c.173C>G (p.Ala58Gly) c.1013C>G (p.Ala338Gly) | |
11 | g.68793365G>T | CA381634243 | CPT1A | c.917C>A (p.Ala306Asp) c.173C>A (p.Ala58Asp) c.1013C>A (p.Ala338Asp) | |
11 | g.68793366C>A | CA381634245 | CPT1A | c.916G>T (p.Ala306Ser) c.172G>T (p.Ala58Ser) c.1012G>T (p.Ala338Ser) | gnomAD v4 |
11 | g.68793366C>G | CA381634244 | CPT1A | c.916G>C (p.Ala306Pro) c.172G>C (p.Ala58Pro) c.1012G>C (p.Ala338Pro) | gnomAD v4 |
11 | g.68793366C>T | CA6152482 | CPT1A | c.916G>A (p.Ala306Thr) c.172G>A (p.Ala58Thr) c.1012G>A (p.Ala338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793367G>A | CA6152483 | CPT1A | c.915C>T (p.Ser305=) c.171C>T (p.Ser57=) c.1011C>T (p.Ser337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793367G>C | CA475202184 | CPT1A | c.915C>G (p.Ser305=) c.171C>G (p.Ser57=) c.1011C>G (p.Ser337=) | |
11 | g.68793367G>T | CA475202186 | CPT1A | c.915C>A (p.Ser305=) c.171C>A (p.Ser57=) c.1011C>A (p.Ser337=) | ClinVar dbSNP gnomAD v4 |
11 | g.68793368G>A | CA381634246 | CPT1A | c.914C>T (p.Ser305Phe) c.170C>T (p.Ser57Phe) c.1010C>T (p.Ser337Phe) | |
11 | g.68793368G>C | CA381634247 | CPT1A | c.914C>G (p.Ser305Cys) c.170C>G (p.Ser57Cys) c.1010C>G (p.Ser337Cys) | |
11 | g.68793368G>T | CA381634248 | CPT1A | c.914C>A (p.Ser305Tyr) c.170C>A (p.Ser57Tyr) c.1010C>A (p.Ser337Tyr) | gnomAD v4 |
11 | g.68793369A>C | CA381634249 | CPT1A | c.913T>G (p.Ser305Ala) c.169T>G (p.Ser57Ala) c.1009T>G (p.Ser337Ala) | |
11 | g.68793369A>G | CA381634250 | CPT1A | c.913T>C (p.Ser305Pro) c.169T>C (p.Ser57Pro) c.1009T>C (p.Ser337Pro) | gnomAD v4 |
11 | g.68793369A>T | CA381634251 | CPT1A | c.913T>A (p.Ser305Thr) c.169T>A (p.Ser57Thr) c.1009T>A (p.Ser337Thr) | |
11 | g.68793370G>A | CA6152484 | CPT1A | c.912C>T (p.Cys304=) c.168C>T (p.Cys56=) c.1008C>T (p.Cys336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793370G>C | CA344987 | CPT1A | c.912C>G (p.Cys304Trp) c.168C>G (p.Cys56Trp) c.1008C>G (p.Cys336Trp) | ClinVar dbSNP |
11 | g.68793370G>T | CA381634252 | CPT1A | c.912C>A (p.Cys304Ter) c.168C>A (p.Cys56Ter) c.1008C>A (p.Cys336Ter) | |
11 | g.68793371C>A | CA381634253 | CPT1A | c.911G>T (p.Cys304Phe) c.167G>T (p.Cys56Phe) c.1007G>T (p.Cys336Phe) | |
11 | g.68793371C>G | CA381634254 | CPT1A | c.911G>C (p.Cys304Ser) c.167G>C (p.Cys56Ser) c.1007G>C (p.Cys336Ser) | |
11 | g.68793371C>T | CA381634255 | CPT1A | c.911G>A (p.Cys304Tyr) c.167G>A (p.Cys56Tyr) c.1007G>A (p.Cys336Tyr) | |
11 | g.68793372A>C | CA381634258 | CPT1A | c.910T>G (p.Cys304Gly) c.166T>G (p.Cys56Gly) c.1006T>G (p.Cys336Gly) | |
11 | g.68793372A>G | CA381634257 | CPT1A | c.910T>C (p.Cys304Arg) c.166T>C (p.Cys56Arg) c.1006T>C (p.Cys336Arg) | |
11 | g.68793372A>T | CA381634256 | CPT1A | c.910T>A (p.Cys304Ser) c.166T>A (p.Cys56Ser) c.1006T>A (p.Cys336Ser) | |
11 | g.68793373G>A | CA475202218 | CPT1A | c.909C>T (p.Leu303=) c.165C>T (p.Leu55=) c.1005C>T (p.Leu335=) | |
11 | g.68793373G>C | CA475202221 | CPT1A | c.909C>G (p.Leu303=) c.165C>G (p.Leu55=) c.1005C>G (p.Leu335=) | gnomAD v4 |
11 | g.68793373G>T | CA475202224 | CPT1A | c.909C>A (p.Leu303=) c.165C>A (p.Leu55=) c.1005C>A (p.Leu335=) | |
11 | g.68793374A>C | CA381634259 | CPT1A | c.908T>G (p.Leu303Arg) c.164T>G (p.Leu55Arg) c.1004T>G (p.Leu335Arg) | |
11 | g.68793374A>G | CA381634260 | CPT1A | c.908T>C (p.Leu303Pro) c.164T>C (p.Leu55Pro) c.1004T>C (p.Leu335Pro) | |
11 | g.68793374A>T | CA381634261 | CPT1A | c.908T>A (p.Leu303His) c.164T>A (p.Leu55His) c.1004T>A (p.Leu335His) | |
11 | g.68793375G>A | CA381634262 | CPT1A | c.907C>T (p.Leu303Phe) c.163C>T (p.Leu55Phe) c.1003C>T (p.Leu335Phe) | gnomAD v4 |
11 | g.68793375G>C | CA381634263 | CPT1A | c.907C>G (p.Leu303Val) c.163C>G (p.Leu55Val) c.1003C>G (p.Leu335Val) | |
11 | g.68793375G>T | CA381634264 | CPT1A | c.907C>A (p.Leu303Ile) c.163C>A (p.Leu55Ile) c.1003C>A (p.Leu335Ile) | |
11 | g.68793376T>A | CA475202238 | CPT1A | c.906A>T (p.Pro302=) c.162A>T (p.Pro54=) c.1002A>T (p.Pro334=) | gnomAD v4 |
11 | g.68793376T>C | CA475202240 | CPT1A | c.906A>G (p.Pro302=) c.162A>G (p.Pro54=) c.1002A>G (p.Pro334=) | |
11 | g.68793376T>G | CA475202242 | CPT1A | c.906A>C (p.Pro302=) c.162A>C (p.Pro54=) c.1002A>C (p.Pro334=) | |
11 | g.68793377G>A | CA381634265 | CPT1A | c.905C>T (p.Pro302Leu) c.161C>T (p.Pro54Leu) c.1001C>T (p.Pro334Leu) | |
11 | g.68793377G>C | CA381634266 | CPT1A | c.905C>G (p.Pro302Arg) c.161C>G (p.Pro54Arg) c.1001C>G (p.Pro334Arg) | |
11 | g.68793377G>T | CA381634267 | CPT1A | c.905C>A (p.Pro302Gln) c.161C>A (p.Pro54Gln) c.1001C>A (p.Pro334Gln) | |
11 | g.68793378G>A | CA381634268 | CPT1A | c.904C>T (p.Pro302Ser) c.160C>T (p.Pro54Ser) c.1000C>T (p.Pro334Ser) | COSMIC COSMIC |
11 | g.68793378G>C | CA381634269 | CPT1A | c.904C>G (p.Pro302Ala) c.160C>G (p.Pro54Ala) c.1000C>G (p.Pro334Ala) | |
11 | g.68793378G>T | CA381634270 | CPT1A | c.904C>A (p.Pro302Thr) c.160C>A (p.Pro54Thr) c.1000C>A (p.Pro334Thr) |