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