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