Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |