Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.68793379A>C | CA381634271 | CPT1A | c.903T>G (p.Ile301Met) c.159T>G (p.Ile53Met) c.999T>G (p.Ile333Met) | gnomAD v4 |
11 | g.68793379A>G | CA475202253 | CPT1A | c.903T>C (p.Ile301=) c.159T>C (p.Ile53=) c.999T>C (p.Ile333=) | |
11 | g.68793379A>T | CA475202255 | CPT1A | c.903T>A (p.Ile301=) c.159T>A (p.Ile53=) c.999T>A (p.Ile333=) | |
11 | g.68793380A>C | CA381634273 | CPT1A | c.902T>G (p.Ile301Ser) c.158T>G (p.Ile53Ser) c.998T>G (p.Ile333Ser) | |
11 | g.68793380A>G | CA223384765 | CPT1A | c.902T>C (p.Ile301Thr) c.158T>C (p.Ile53Thr) c.998T>C (p.Ile333Thr) | dbSNP |
11 | g.68793380A>T | CA381634272 | CPT1A | c.902T>A (p.Ile301Asn) c.158T>A (p.Ile53Asn) c.998T>A (p.Ile333Asn) | |
11 | g.68793381T>A | CA381634274 | CPT1A | c.901A>T (p.Ile301Phe) c.157A>T (p.Ile53Phe) c.997A>T (p.Ile333Phe) | |
11 | g.68793381T>C | CA381634276 | CPT1A | c.901A>G (p.Ile301Val) c.157A>G (p.Ile53Val) c.997A>G (p.Ile333Val) | gnomAD v4 |
11 | g.68793381T>G | CA381634275 | CPT1A | c.901A>C (p.Ile301Leu) c.157A>C (p.Ile53Leu) c.997A>C (p.Ile333Leu) | |
11 | g.68793382C>A | CA475202267 | CPT1A | c.900G>T (p.Thr300=) c.156G>T (p.Thr52=) c.996G>T (p.Thr332=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793382C>G | CA475202269 | CPT1A | c.900G>C (p.Thr300=) c.156G>C (p.Thr52=) c.996G>C (p.Thr332=) | |
11 | g.68793382C>T | CA475202270 | CPT1A | c.900G>A (p.Thr300=) c.156G>A (p.Thr52=) c.996G>A (p.Thr332=) | ClinVar dbSNP gnomAD v4 |
11 | g.68793383G>A | CA6152485 | CPT1A | c.899C>T (p.Thr300Met) c.155C>T (p.Thr52Met) c.995C>T (p.Thr332Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793383G>C | CA381634277 | CPT1A | c.899C>G (p.Thr300Arg) c.155C>G (p.Thr52Arg) c.995C>G (p.Thr332Arg) | |
11 | g.68793383G>T | CA381634278 | CPT1A | c.899C>A (p.Thr300Lys) c.155C>A (p.Thr52Lys) c.995C>A (p.Thr332Lys) | |
11 | g.68793384T>A | CA381634279 | CPT1A | c.898A>T (p.Thr300Ser) c.154A>T (p.Thr52Ser) c.994A>T (p.Thr332Ser) | |
11 | g.68793384T>C | CA381634280 | CPT1A | c.898A>G (p.Thr300Ala) c.154A>G (p.Thr52Ala) c.994A>G (p.Thr332Ala) | |
11 | g.68793384T>G | CA381634281 | CPT1A | c.898A>C (p.Thr300Pro) c.154A>C (p.Thr52Pro) c.994A>C (p.Thr332Pro) | |
11 | g.68793385G>A | CA475202299 | CPT1A | c.897C>T (p.Ser299=) c.153C>T (p.Ser51=) c.993C>T (p.Ser331=) | |
11 | g.68793385G>C | CA475202295 | CPT1A | c.897C>G (p.Ser299=) c.153C>G (p.Ser51=) c.993C>G (p.Ser331=) | |
11 | g.68793385G>T | CA475202302 | CPT1A | c.897C>A (p.Ser299=) c.153C>A (p.Ser51=) c.993C>A (p.Ser331=) | gnomAD v4 |
11 | g.68793386G>A | CA381634282 | CPT1A | c.896C>T (p.Ser299Phe) c.152C>T (p.Ser51Phe) c.992C>T (p.Ser331Phe) | gnomAD v4 |
11 | g.68793386G>C | CA6152487 | CPT1A | c.896C>G (p.Ser299Cys) c.152C>G (p.Ser51Cys) c.992C>G (p.Ser331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793386G>T | CA6152486 | CPT1A | c.896C>A (p.Ser299Tyr) c.152C>A (p.Ser51Tyr) c.992C>A (p.Ser331Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793387A>C | CA381634283 | CPT1A | c.895T>G (p.Ser299Ala) c.151T>G (p.Ser51Ala) c.991T>G (p.Ser331Ala) | |
11 | g.68793387A>G | CA381634284 | CPT1A | c.895T>C (p.Ser299Pro) c.151T>C (p.Ser51Pro) c.991T>C (p.Ser331Pro) | |
11 | g.68793387A>T | CA381634285 | CPT1A | c.895T>A (p.Ser299Thr) c.151T>A (p.Ser51Thr) c.991T>A (p.Ser331Thr) | |
11 | g.68793388T>A | CA475202332 | CPT1A | c.894A>T (p.Gly298=) c.150A>T (p.Gly50=) c.990A>T (p.Gly330=) | |
11 | g.68793388T>C | CA475202329 | CPT1A | c.894A>G (p.Gly298=) c.150A>G (p.Gly50=) c.990A>G (p.Gly330=) | |
11 | g.68793388T>G | CA475202328 | CPT1A | c.894A>C (p.Gly298=) c.150A>C (p.Gly50=) c.990A>C (p.Gly330=) | |
11 | g.68793389C>A | CA381634286 | CPT1A | c.893G>T (p.Gly298Val) c.149G>T (p.Gly50Val) c.989G>T (p.Gly330Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793389C>G | CA381634288 | CPT1A | c.893G>C (p.Gly298Ala) c.149G>C (p.Gly50Ala) c.989G>C (p.Gly330Ala) | |
11 | g.68793389C>T | CA381634287 | CPT1A | c.893G>A (p.Gly298Glu) c.149G>A (p.Gly50Glu) c.989G>A (p.Gly330Glu) | |
11 | g.68793390C>A | CA381634289 | CPT1A | c.892G>T (p.Gly298Ter) c.148G>T (p.Gly50Ter) c.988G>T (p.Gly330Ter) | |
11 | g.68793390C>G | CA381634290 | CPT1A | c.892G>C (p.Gly298Arg) c.148G>C (p.Gly50Arg) c.988G>C (p.Gly330Arg) | |
11 | g.68793390C>T | CA6152488 | CPT1A | c.892G>A (p.Gly298Arg) c.148G>A (p.Gly50Arg) c.988G>A (p.Gly330Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793391C>A | CA381634291 | CPT1A | c.891G>T (p.Leu297Phe) c.147G>T (p.Leu49Phe) c.987G>T (p.Leu329Phe) | |
11 | g.68793391C>G | CA381634292 | CPT1A | c.891G>C (p.Leu297Phe) c.147G>C (p.Leu49Phe) c.987G>C (p.Leu329Phe) | |
11 | g.68793391C>T | CA475202347 | CPT1A | c.891G>A (p.Leu297=) c.147G>A (p.Leu49=) c.987G>A (p.Leu329=) | dbSNP gnomAD v4 |
11 | g.68793392A>C | CA381634293 | CPT1A | c.890T>G (p.Leu297Trp) c.146T>G (p.Leu49Trp) c.986T>G (p.Leu329Trp) | |
11 | g.68793392A>G | CA381634294 | CPT1A | c.890T>C (p.Leu297Ser) c.146T>C (p.Leu49Ser) c.986T>C (p.Leu329Ser) | |
11 | g.68793392A>T | CA381634295 | CPT1A | c.890T>A (p.Leu297Ter) c.146T>A (p.Leu49Ter) c.986T>A (p.Leu329Ter) | |
11 | g.68793393A>C | CA381634296 | CPT1A | c.889T>G (p.Leu297Val) c.145T>G (p.Leu49Val) c.985T>G (p.Leu329Val) | |
11 | g.68793393A>G | CA475202366 | CPT1A | c.889T>C (p.Leu297=) c.145T>C (p.Leu49=) c.985T>C (p.Leu329=) | |
11 | g.68793393A>T | CA381634297 | CPT1A | c.889T>A (p.Leu297Met) c.145T>A (p.Leu49Met) c.985T>A (p.Leu329Met) | |
11 | g.68793394A>C | CA475202373 | CPT1A | c.888T>G (p.Leu296=) c.144T>G (p.Leu48=) c.984T>G (p.Leu328=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793394A>G | CA475202376 | CPT1A | c.888T>C (p.Leu296=) c.144T>C (p.Leu48=) c.984T>C (p.Leu328=) | |
11 | g.68793394A>T | CA475202378 | CPT1A | c.888T>A (p.Leu296=) c.144T>A (p.Leu48=) c.984T>A (p.Leu328=) | |
11 | g.68793395A>C | CA381634299 | CPT1A | c.887T>G (p.Leu296Arg) c.143T>G (p.Leu48Arg) c.983T>G (p.Leu328Arg) | |
11 | g.68793395A>G | CA381634300 | CPT1A | c.887T>C (p.Leu296Pro) c.143T>C (p.Leu48Pro) c.983T>C (p.Leu328Pro) | |
11 | g.68793395A>T | CA381634298 | CPT1A | c.887T>A (p.Leu296His) c.143T>A (p.Leu48His) c.983T>A (p.Leu328His) | |
11 | g.68793396_68793397dup | CA2614737330 | CPT1A | c.886_887dup (p.Leu297PhefsTer?) c.142_143dup (p.Leu49PhefsTer?) c.982_983dup (p.Leu329PhefsTer?) | gnomAD v4 |
11 | g.68793396G>A | CA381634301 | CPT1A | c.886C>T (p.Leu296Phe) c.142C>T (p.Leu48Phe) c.982C>T (p.Leu328Phe) | |
11 | g.68793396G>C | CA381634302 | CPT1A | c.886C>G (p.Leu296Val) c.142C>G (p.Leu48Val) c.982C>G (p.Leu328Val) | |
11 | g.68793396G>T | CA381634303 | CPT1A | c.886C>A (p.Leu296Ile) c.142C>A (p.Leu48Ile) c.982C>A (p.Leu328Ile) | COSMIC COSMIC |
11 | g.68793397A>C | CA475202397 | CPT1A | c.885T>G (p.Arg295=) c.141T>G (p.Arg47=) c.981T>G (p.Arg327=) | gnomAD v4 |
11 | g.68793397A>G | CA475202398 | CPT1A | c.885T>C (p.Arg295=) c.141T>C (p.Arg47=) c.981T>C (p.Arg327=) | |
11 | g.68793397A>T | CA475202400 | CPT1A | c.885T>A (p.Arg295=) c.141T>A (p.Arg47=) c.981T>A (p.Arg327=) | |
11 | g.68793398C>A | CA381634304 | CPT1A | c.884G>T (p.Arg295Leu) c.140G>T (p.Arg47Leu) c.980G>T (p.Arg327Leu) | gnomAD v4 |
11 | g.68793398C>G | CA381634305 | CPT1A | c.884G>C (p.Arg295Pro) c.140G>C (p.Arg47Pro) c.980G>C (p.Arg327Pro) | |
11 | g.68793398C>T | CA6152489 | CPT1A | c.884G>A (p.Arg295His) c.140G>A (p.Arg47His) c.980G>A (p.Arg327His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793399G>A | CA381634307 | CPT1A | c.883C>T (p.Arg295Cys) c.139C>T (p.Arg47Cys) c.979C>T (p.Arg327Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793399G>C | CA381634310 | CPT1A | c.883C>G (p.Arg295Gly) c.139C>G (p.Arg47Gly) c.979C>G (p.Arg327Gly) | |
11 | g.68793399G>T | CA6152490 | CPT1A | c.883C>A (p.Arg295Ser) c.139C>A (p.Arg47Ser) c.979C>A (p.Arg327Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793400A>C | CA381634313 | CPT1A | c.882T>G (p.Ile294Met) c.138T>G (p.Ile46Met) c.978T>G (p.Ile326Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793400A>G | CA475202428 | CPT1A | c.882T>C (p.Ile294=) c.138T>C (p.Ile46=) c.978T>C (p.Ile326=) | |
11 | g.68793400A>T | CA475202429 | CPT1A | c.882T>A (p.Ile294=) c.138T>A (p.Ile46=) c.978T>A (p.Ile326=) | gnomAD v4 |
11 | g.68793401A>C | CA381634315 | CPT1A | c.881T>G (p.Ile294Ser) c.137T>G (p.Ile46Ser) c.977T>G (p.Ile326Ser) | |
11 | g.68793401A>G | CA381634317 | CPT1A | c.881T>C (p.Ile294Thr) c.137T>C (p.Ile46Thr) c.977T>C (p.Ile326Thr) | |
11 | g.68793401A>T | CA381634319 | CPT1A | c.881T>A (p.Ile294Asn) c.137T>A (p.Ile46Asn) c.977T>A (p.Ile326Asn) | |
11 | g.68793402T>A | CA381634324 | CPT1A | c.880A>T (p.Ile294Phe) c.136A>T (p.Ile46Phe) c.976A>T (p.Ile326Phe) | |
11 | g.68793402T>C | CA6152491 | CPT1A | c.880A>G (p.Ile294Val) c.136A>G (p.Ile46Val) c.976A>G (p.Ile326Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793402T>G | CA381634321 | CPT1A | c.880A>C (p.Ile294Leu) c.136A>C (p.Ile46Leu) c.976A>C (p.Ile326Leu) | |
11 | g.68793402_68793403insTGGTTTGATTTC | CA2724571998 | CPT1A | c.880-1_880insGAAATCAAACCA (n.880-1_880insGAAATCAAACCA) c.136-1_136insGAAATCAAACCA (n.136-1_136insGAAATCAAACCA) c.976-1_976insGAAATCAAACCA (n.976-1_976insGAAATCAAACCA) | dbSNP |
11 | g.68793403C>A | CA381634326 | CPT1A | c.880-1G>T (n.880-1G>T) c.136-1G>T (n.136-1G>T) c.976-1G>T (n.976-1G>T) | |
11 | g.68793403C>G | CA381634328 | CPT1A | c.880-1G>C (n.880-1G>C) c.136-1G>C (n.136-1G>C) c.976-1G>C (n.976-1G>C) | |
11 | g.68793403C>T | CA381634329 | CPT1A | c.880-1G>A (n.880-1G>A) c.136-1G>A (n.136-1G>A) c.976-1G>A (n.976-1G>A) | |
11 | g.68793404T>A | CA381634332 | CPT1A | c.880-2A>T (n.880-2A>T) c.136-2A>T (n.136-2A>T) c.976-2A>T (n.976-2A>T) | |
11 | g.68793404T>C | CA381634333 | CPT1A | c.880-2A>G (n.880-2A>G) c.136-2A>G (n.136-2A>G) c.976-2A>G (n.976-2A>G) | |
11 | g.68793404T>G | CA381634335 | CPT1A | c.880-2A>C (n.880-2A>C) c.136-2A>C (n.136-2A>C) c.976-2A>C (n.976-2A>C) | |
11 | g.68793404_68793405insCCCGGTCCA | CA2724572644 | CPT1A | c.880-3_880-2insTGGACCGGG (n.880-3_880-2insTGGACCGGG) c.136-3_136-2insTGGACCGGG (n.136-3_136-2insTGGACCGGG) c.976-3_976-2insTGGACCGGG (n.976-3_976-2insTGGACCGGG) | dbSNP |
11 | g.68793405G>A | CA2614737332 | CPT1A | c.880-3C>T (n.880-3C>T) c.136-3C>T (n.136-3C>T) c.976-3C>T (n.976-3C>T) | gnomAD v4 |
11 | g.68793407A>G | CA2614737333 | CPT1A | c.880-5T>C (n.880-5T>C) c.136-5T>C (n.136-5T>C) c.976-5T>C (n.976-5T>C) | gnomAD v4 |
11 | g.68793408A>G | CA2614737334 | CPT1A | c.880-6T>C (n.880-6T>C) c.136-6T>C (n.136-6T>C) c.976-6T>C (n.976-6T>C) | gnomAD v4 |
11 | g.68793409C>A | CA599990507 | CPT1A | c.880-7G>T (n.880-7G>T) c.136-7G>T (n.136-7G>T) c.976-7G>T (n.976-7G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793409C>T | CA599990508 | CPT1A | c.880-7G>A (n.880-7G>A) c.136-7G>A (n.136-7G>A) c.976-7G>A (n.976-7G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793410A>C | CA599990509 | CPT1A | c.880-8T>G (n.880-8T>G) c.136-8T>G (n.136-8T>G) c.976-8T>G (n.976-8T>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68793412A>G | CA2614737336 | CPT1A | c.880-10T>C (n.880-10T>C) c.136-10T>C (n.136-10T>C) c.976-10T>C (n.976-10T>C) | gnomAD v4 |
11 | g.68793413A>T | CA2614737337 | CPT1A | c.880-11T>A (n.880-11T>A) c.136-11T>A (n.136-11T>A) c.976-11T>A (n.976-11T>A) | gnomAD v4 |
11 | g.68793414A>T | CA2614737338 | CPT1A | c.880-12T>A (n.880-12T>A) c.136-12T>A (n.136-12T>A) c.976-12T>A (n.976-12T>A) | gnomAD v4 |
11 | g.68793416A>G | CA223384819 | CPT1A | c.880-14T>C (n.880-14T>C) c.136-14T>C (n.136-14T>C) c.976-14T>C (n.976-14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793417T>C | CA6152492 | CPT1A | c.880-15A>G (n.880-15A>G) c.136-15A>G (n.136-15A>G) c.976-15A>G (n.976-15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793418A>G | CA2614737339 | CPT1A | c.880-16T>C (n.880-16T>C) c.136-16T>C (n.136-16T>C) c.976-16T>C (n.976-16T>C) | ClinVar gnomAD v4 |
11 | g.68793419T>C | CA599990510 | CPT1A | c.880-17A>G (n.880-17A>G) c.136-17A>G (n.136-17A>G) c.976-17A>G (n.976-17A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793420T>C | CA679632599 | CPT1A | c.880-18A>G (n.880-18A>G) c.136-18A>G (n.136-18A>G) c.976-18A>G (n.976-18A>G) | dbSNP |
11 | g.68793421T>G | CA2697548804 | CPT1A | c.880-19A>C (n.880-19A>C) c.136-19A>C (n.136-19A>C) c.976-19A>C (n.976-19A>C) | ClinVar |
11 | g.68793423_68793440del | CA2614737340 | CPT1A | c.880-36_880-19del (n.880-36_880-19del) c.136-36_136-19del (n.136-36_136-19del) c.976-36_976-19del (n.976-36_976-19del) | gnomAD v4 |
11 | g.68793422C>T | CA2614737341 | CPT1A | c.880-20G>A (n.880-20G>A) c.136-20G>A (n.136-20G>A) c.976-20G>A (n.976-20G>A) | gnomAD v4 |
11 | g.68793424_68793425dup | CA2792553347 | CPT1A | c.880-22_880-21dup (n.880-22_880-21dup) c.136-22_136-21dup (n.136-22_136-21dup) c.976-22_976-21dup (n.976-22_976-21dup) | |
11 | g.68793426C>A | CA2614737342 | CPT1A | c.880-24G>T (n.880-24G>T) c.136-24G>T (n.136-24G>T) c.976-24G>T (n.976-24G>T) | gnomAD v4 |
11 | g.68793426C>T | CA2614737343 | CPT1A | c.880-24G>A (n.880-24G>A) c.136-24G>A (n.136-24G>A) c.976-24G>A (n.976-24G>A) | gnomAD v4 |
11 | g.68793427C>A | CA2614737344 | CPT1A | c.880-25G>T (n.880-25G>T) c.136-25G>T (n.136-25G>T) c.976-25G>T (n.976-25G>T) | gnomAD v4 |
11 | g.68793427C>G | CA6152493 | CPT1A | c.880-25G>C (n.880-25G>C) c.136-25G>C (n.136-25G>C) c.976-25G>C (n.976-25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68793429del | CA2510806826 | CPT1A | c.880-26del (n.880-26del) c.136-26del (n.136-26del) c.976-26del (n.976-26del) | gnomAD v4 |
11 | g.68793429A>G | CA599990511 | CPT1A | c.880-27T>C (n.880-27T>C) c.136-27T>C (n.136-27T>C) c.976-27T>C (n.976-27T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793430C>A | CA599990512 | CPT1A | c.880-28G>T (n.880-28G>T) c.136-28G>T (n.136-28G>T) c.976-28G>T (n.976-28G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793430C>T | CA939202465 | CPT1A | c.880-28G>A (n.880-28G>A) c.136-28G>A (n.136-28G>A) c.976-28G>A (n.976-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793431A>C | CA2614737345 | CPT1A | c.880-29T>G (n.880-29T>G) c.136-29T>G (n.136-29T>G) c.976-29T>G (n.976-29T>G) | gnomAD v4 |
11 | g.68793432A>C | CA2614737346 | CPT1A | c.880-30T>G (n.880-30T>G) c.136-30T>G (n.136-30T>G) c.976-30T>G (n.976-30T>G) | gnomAD v4 |
11 | g.68793433C>A | CA2614737347 | CPT1A | c.880-31G>T (n.880-31G>T) c.136-31G>T (n.136-31G>T) c.976-31G>T (n.976-31G>T) | gnomAD v4 |
11 | g.68793433C>T | CA6152494 | CPT1A | c.880-31G>A (n.880-31G>A) c.136-31G>A (n.136-31G>A) c.976-31G>A (n.976-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793434G>A | CA6152495 | CPT1A | c.880-32C>T (n.880-32C>T) c.136-32C>T (n.136-32C>T) c.976-32C>T (n.976-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68793434G>T | CA2614737348 | CPT1A | c.880-32C>A (n.880-32C>A) c.136-32C>A (n.136-32C>A) c.976-32C>A (n.976-32C>A) | gnomAD v4 |
11 | g.68793439T>C | CA939202475 | CPT1A | c.880-37A>G (n.880-37A>G) c.136-37A>G (n.136-37A>G) c.976-37A>G (n.976-37A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68793442C>A | CA2574903323 | CPT1A | c.880-40G>T (n.880-40G>T) c.136-40G>T (n.136-40G>T) c.976-40G>T (n.976-40G>T) | gnomAD v4 |
11 | g.68793442C>T | CA223384842 | CPT1A | c.880-40G>A (n.880-40G>A) c.136-40G>A (n.136-40G>A) c.976-40G>A (n.976-40G>A) | dbSNP gnomAD v2 gnomAD v4 |