| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68799217del | CA2497319769 | CPT1A | c.693+1del (n.693+1del) c.-52+1del (n.-52+1del) c.789+1del (n.789+1del) | dbSNP |
| 11 | g.68799217C>A | CA381635163 | CPT1A | c.693+1G>T (n.693+1G>T) c.-52+1G>T (n.-52+1G>T) c.789+1G>T (n.789+1G>T) | ClinVar dbSNP |
| 11 | g.68799217C>G | CA16041542 | CPT1A | c.693+1G>C (n.693+1G>C) c.-52+1G>C (n.-52+1G>C) c.789+1G>C (n.789+1G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68799217C>T | CA381635164 | CPT1A | c.693+1G>A (n.693+1G>A) c.-52+1G>A (n.-52+1G>A) c.789+1G>A (n.789+1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68799218G>A | CA6152597 | CPT1A | c.693C>T (p.Tyr231=) c.-52C>T (n.-52C>T) c.789C>T (p.Tyr263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68799218G>C | CA381635165 | CPT1A | c.693C>G (p.Tyr231Ter) c.-52C>G (n.-52C>G) c.789C>G (p.Tyr263Ter) | |
| 11 | g.68799218G>T | CA381635166 | CPT1A | c.693C>A (p.Tyr231Ter) c.-52C>A (n.-52C>A) c.789C>A (p.Tyr263Ter) | COSMIC COSMIC |
| 11 | g.68799219T>A | CA381635168 | CPT1A | c.692A>T (p.Tyr231Phe) c.-53A>T (n.-53A>T) c.788A>T (p.Tyr263Phe) | |
| 11 | g.68799219T>C | CA381635169 | CPT1A | c.692A>G (p.Tyr231Cys) c.-53A>G (n.-53A>G) c.788A>G (p.Tyr263Cys) | |
| 11 | g.68799219T>G | CA381635167 | CPT1A | c.692A>C (p.Tyr231Ser) c.-53A>C (n.-53A>C) c.788A>C (p.Tyr263Ser) | |
| 11 | g.68799220A>C | CA381635170 | CPT1A | c.691T>G (p.Tyr231Asp) c.-54T>G (n.-54T>G) c.787T>G (p.Tyr263Asp) | |
| 11 | g.68799220A>G | CA381635171 | CPT1A | c.691T>C (p.Tyr231His) c.-54T>C (n.-54T>C) c.787T>C (p.Tyr263His) | |
| 11 | g.68799220A>T | CA381635172 | CPT1A | c.691T>A (p.Tyr231Asn) c.-54T>A (n.-54T>A) c.787T>A (p.Tyr263Asn) | |
| 11 | g.68799221del | CA2740098009 | CPT1A | c.691del (p.Tyr231ThrfsTer2) c.-54del (n.-54del) c.787del (p.Tyr263ThrfsTer2) | |
| 11 | g.68799221A>C | CA381635173 | CPT1A | c.690T>G (p.Asn230Lys) c.-55T>G (n.-55T>G) c.786T>G (p.Asn262Lys) | |
| 11 | g.68799221A>G | CA475204752 | CPT1A | c.690T>C (p.Asn230=) c.-55T>C (n.-55T>C) c.786T>C (p.Asn262=) | |
| 11 | g.68799221A>T | CA381635174 | CPT1A | c.690T>A (p.Asn230Lys) c.-55T>A (n.-55T>A) c.786T>A (p.Asn262Lys) | |
| 11 | g.68799222T>A | CA381635177 | CPT1A | c.689A>T (p.Asn230Ile) c.-56A>T (n.-56A>T) c.785A>T (p.Asn262Ile) | |
| 11 | g.68799222T>C | CA381635176 | CPT1A | c.689A>G (p.Asn230Ser) c.-56A>G (n.-56A>G) c.785A>G (p.Asn262Ser) | COSMIC |
| 11 | g.68799222T>G | CA381635175 | CPT1A | c.689A>C (p.Asn230Thr) c.-56A>C (n.-56A>C) c.785A>C (p.Asn262Thr) | |
| 11 | g.68799223T>A | CA381635178 | CPT1A | c.688A>T (p.Asn230Tyr) c.-57A>T (n.-57A>T) c.784A>T (p.Asn262Tyr) | |
| 11 | g.68799223T>C | CA381635179 | CPT1A | c.688A>G (p.Asn230Asp) c.-57A>G (n.-57A>G) c.784A>G (p.Asn262Asp) | |
| 11 | g.68799223T>G | CA381635180 | CPT1A | c.688A>C (p.Asn230His) c.-57A>C (n.-57A>C) c.784A>C (p.Asn262His) | |
| 11 | g.68799224T>A | CA475204758 | CPT1A | c.687A>T (p.Thr229=) c.-58A>T (n.-58A>T) c.783A>T (p.Thr261=) | |
| 11 | g.68799224T>C | CA475204759 | CPT1A | c.687A>G (p.Thr229=) c.-58A>G (n.-58A>G) c.783A>G (p.Thr261=) | ClinVar |
| 11 | g.68799224T>G | CA475204760 | CPT1A | c.687A>C (p.Thr229=) c.-58A>C (n.-58A>C) c.783A>C (p.Thr261=) | |
| 11 | g.68799225G>A | CA381635181 | CPT1A | c.686C>T (p.Thr229Ile) c.-59C>T (n.-59C>T) c.782C>T (p.Thr261Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68799225G>C | CA381635182 | CPT1A | c.686C>G (p.Thr229Arg) c.-59C>G (n.-59C>G) c.782C>G (p.Thr261Arg) | |
| 11 | g.68799225G>T | CA381635183 | CPT1A | c.686C>A (p.Thr229Lys) c.-59C>A (n.-59C>A) c.782C>A (p.Thr261Lys) | |
| 11 | g.68799226T>A | CA381635184 | CPT1A | c.685A>T (p.Thr229Ser) c.-60A>T (n.-60A>T) c.781A>T (p.Thr261Ser) | |
| 11 | g.68799226T>C | CA381635186 | CPT1A | c.685A>G (p.Thr229Ala) c.-60A>G (n.-60A>G) c.781A>G (p.Thr261Ala) | |
| 11 | g.68799226T>G | CA381635185 | CPT1A | c.685A>C (p.Thr229Pro) c.-60A>C (n.-60A>C) c.781A>C (p.Thr261Pro) | gnomAD v4 |
| 11 | g.68799227A>C | CA475204763 | CPT1A | c.684T>G (p.Ala228=) c.-61T>G (n.-61T>G) c.780T>G (p.Ala260=) | |
| 11 | g.68799227A>G | CA475204764 | CPT1A | c.684T>C (p.Ala228=) c.-61T>C (n.-61T>C) c.780T>C (p.Ala260=) | gnomAD v4 |
| 11 | g.68799227A>T | CA475204767 | CPT1A | c.684T>A (p.Ala228=) c.-61T>A (n.-61T>A) c.780T>A (p.Ala260=) | |
| 11 | g.68799228G>A | CA381635187 | CPT1A | c.683C>T (p.Ala228Val) c.-62C>T (n.-62C>T) c.779C>T (p.Ala260Val) | |
| 11 | g.68799228G>C | CA381635188 | CPT1A | c.683C>G (p.Ala228Gly) c.-62C>G (n.-62C>G) c.779C>G (p.Ala260Gly) | ClinVar gnomAD v4 |
| 11 | g.68799228G>T | CA381635189 | CPT1A | c.683C>A (p.Ala228Asp) c.-62C>A (n.-62C>A) c.779C>A (p.Ala260Asp) | |
| 11 | g.68799229C>A | CA381635190 | CPT1A | c.682G>T (p.Ala228Ser) c.-63G>T (n.-63G>T) c.778G>T (p.Ala260Ser) | |
| 11 | g.68799229C>G | CA381635191 | CPT1A | c.682G>C (p.Ala228Pro) c.-63G>C (n.-63G>C) c.778G>C (p.Ala260Pro) | |
| 11 | g.68799229C>T | CA381635192 | CPT1A | c.682G>A (p.Ala228Thr) c.-63G>A (n.-63G>A) c.778G>A (p.Ala260Thr) | |
| 11 | g.68799230C>A | CA381635193 | CPT1A | c.681G>T (p.Trp227Cys) c.-64G>T (n.-64G>T) c.777G>T (p.Trp259Cys) | |
| 11 | g.68799230C>G | CA381635194 | CPT1A | c.681G>C (p.Trp227Cys) c.-64G>C (n.-64G>C) c.777G>C (p.Trp259Cys) | |
| 11 | g.68799230C>T | CA381635195 | CPT1A | c.681G>A (p.Trp227Ter) c.-64G>A (n.-64G>A) c.777G>A (p.Trp259Ter) | |
| 11 | g.68799231C>A | CA381635196 | CPT1A | c.680G>T (p.Trp227Leu) c.-65G>T (n.-65G>T) c.776G>T (p.Trp259Leu) | |
| 11 | g.68799231C>G | CA381635197 | CPT1A | c.680G>C (p.Trp227Ser) c.-65G>C (n.-65G>C) c.776G>C (p.Trp259Ser) | |
| 11 | g.68799231C>T | CA381635198 | CPT1A | c.680G>A (p.Trp227Ter) c.-65G>A (n.-65G>A) c.776G>A (p.Trp259Ter) | |
| 11 | g.68799232A>C | CA381635199 | CPT1A | c.679T>G (p.Trp227Gly) c.-66T>G (n.-66T>G) c.775T>G (p.Trp259Gly) | |
| 11 | g.68799232A>G | CA381635201 | CPT1A | c.679T>C (p.Trp227Arg) c.-66T>C (n.-66T>C) c.775T>C (p.Trp259Arg) | |
| 11 | g.68799232A>T | CA381635200 | CPT1A | c.679T>A (p.Trp227Arg) c.-66T>A (n.-66T>A) c.775T>A (p.Trp259Arg) |