| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68804077G>A | CA344984 | CPT1A | c.478C>T (p.Arg160Ter) c.574C>T (p.Arg192Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68804077G>C | CA381636103 | CPT1A | c.478C>G (p.Arg160Gly) c.574C>G (p.Arg192Gly) | |
| 11 | g.68804077G>T | CA475205670 | CPT1A | c.478C>A (p.Arg160=) c.574C>A (p.Arg192=) | |
| 11 | g.68804078G>A | CA475205672 | CPT1A | c.477C>T (p.Gly159=) c.573C>T (p.Gly191=) | gnomAD v4 |
| 11 | g.68804078G>C | CA475205674 | CPT1A | c.477C>G (p.Gly159=) c.573C>G (p.Gly191=) | |
| 11 | g.68804078G>T | CA223393530 | CPT1A | c.477C>A (p.Gly159=) c.573C>A (p.Gly191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804079C>A | CA381636104 | CPT1A | c.476G>T (p.Gly159Val) c.572G>T (p.Gly191Val) | |
| 11 | g.68804079C>G | CA381636106 | CPT1A | c.476G>C (p.Gly159Ala) c.572G>C (p.Gly191Ala) | |
| 11 | g.68804079C>T | CA381636105 | CPT1A | c.476G>A (p.Gly159Asp) c.572G>A (p.Gly191Asp) | |
| 11 | g.68804080C>A | CA381636107 | CPT1A | c.475G>T (p.Gly159Cys) c.571G>T (p.Gly191Cys) | |
| 11 | g.68804080C>G | CA381636108 | CPT1A | c.475G>C (p.Gly159Arg) c.571G>C (p.Gly191Arg) | |
| 11 | g.68804080C>T | CA381636109 | CPT1A | c.475G>A (p.Gly159Ser) c.571G>A (p.Gly191Ser) | |
| 11 | g.68804081T>A | CA475205684 | CPT1A | c.474A>T (p.Ser158=) c.570A>T (p.Ser190=) | |
| 11 | g.68804081T>C | CA475205686 | CPT1A | c.474A>G (p.Ser158=) c.570A>G (p.Ser190=) | |
| 11 | g.68804081T>G | CA475205688 | CPT1A | c.474A>C (p.Ser158=) c.570A>C (p.Ser190=) | |
| 11 | g.68804082G>A | CA381636110 | CPT1A | c.473C>T (p.Ser158Leu) c.569C>T (p.Ser190Leu) | |
| 11 | g.68804082G>C | CA381636111 | CPT1A | c.473C>G (p.Ser158Ter) c.569C>G (p.Ser190Ter) | |
| 11 | g.68804082G>T | CA381636112 | CPT1A | c.473C>A (p.Ser158Ter) c.569C>A (p.Ser190Ter) | |
| 11 | g.68804083A>C | CA381636113 | CPT1A | c.472T>G (p.Ser158Ala) c.568T>G (p.Ser190Ala) | |
| 11 | g.68804083A>G | CA381636114 | CPT1A | c.472T>C (p.Ser158Pro) c.568T>C (p.Ser190Pro) | |
| 11 | g.68804083A>T | CA381636115 | CPT1A | c.472T>A (p.Ser158Thr) c.568T>A (p.Ser190Thr) | |
| 11 | g.68804084A>C | CA381636116 | CPT1A | c.471T>G (p.Phe157Leu) c.567T>G (p.Phe189Leu) | |
| 11 | g.68804084A>G | CA475205697 | CPT1A | c.471T>C (p.Phe157=) c.567T>C (p.Phe189=) | |
| 11 | g.68804084A>T | CA381636117 | CPT1A | c.471T>A (p.Phe157Leu) c.567T>A (p.Phe189Leu) | |
| 11 | g.68804085A>C | CA381636120 | CPT1A | c.470T>G (p.Phe157Cys) c.566T>G (p.Phe189Cys) | |
| 11 | g.68804085A>G | CA381636119 | CPT1A | c.470T>C (p.Phe157Ser) c.566T>C (p.Phe189Ser) | |
| 11 | g.68804085A>T | CA381636118 | CPT1A | c.470T>A (p.Phe157Tyr) c.566T>A (p.Phe189Tyr) | |
| 11 | g.68804086A>C | CA381636121 | CPT1A | c.469T>G (p.Phe157Val) c.565T>G (p.Phe189Val) | |
| 11 | g.68804086A>G | CA381636122 | CPT1A | c.469T>C (p.Phe157Leu) c.565T>C (p.Phe189Leu) | |
| 11 | g.68804086A>T | CA381636123 | CPT1A | c.469T>A (p.Phe157Ile) c.565T>A (p.Phe189Ile) | |
| 11 | g.68804087G>A | CA475205712 | CPT1A | c.468C>T (p.Ile156=) c.564C>T (p.Ile188=) | dbSNP COSMIC COSMIC |
| 11 | g.68804087G>C | CA381636124 | CPT1A | c.468C>G (p.Ile156Met) c.564C>G (p.Ile188Met) | |
| 11 | g.68804087G>T | CA475205722 | CPT1A | c.468C>A (p.Ile156=) c.564C>A (p.Ile188=) | |
| 11 | g.68804088A>C | CA381636125 | CPT1A | c.467T>G (p.Ile156Ser) c.563T>G (p.Ile188Ser) | |
| 11 | g.68804088A>G | CA381636126 | CPT1A | c.467T>C (p.Ile156Thr) c.563T>C (p.Ile188Thr) | |
| 11 | g.68804088A>T | CA6152649 | CPT1A | c.467T>A (p.Ile156Asn) c.563T>A (p.Ile188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68804089T>A | CA381636127 | CPT1A | c.466A>T (p.Ile156Phe) c.562A>T (p.Ile188Phe) | |
| 11 | g.68804089T>C | CA6152650 | CPT1A | c.466A>G (p.Ile156Val) c.562A>G (p.Ile188Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68804089T>G | CA381636128 | CPT1A | c.466A>C (p.Ile156Leu) c.562A>C (p.Ile188Leu) | |
| 11 | g.68804090del | CA916083258 | CPT1A | c.465del (p.Ile156SerfsTer28) c.561del (p.Ile188SerfsTer28) | ClinVar dbSNP |
| 11 | g.68804090C>A | CA381636129 | CPT1A | c.465G>T (p.Lys155Asn) c.561G>T (p.Lys187Asn) | |
| 11 | g.68804090C>G | CA381636130 | CPT1A | c.465G>C (p.Lys155Asn) c.561G>C (p.Lys187Asn) | |
| 11 | g.68804090C>T | CA475205747 | CPT1A | c.465G>A (p.Lys155=) c.561G>A (p.Lys187=) | |
| 11 | g.68804091T>A | CA381636131 | CPT1A | c.464A>T (p.Lys155Met) c.560A>T (p.Lys187Met) | |
| 11 | g.68804091T>C | CA381636133 | CPT1A | c.464A>G (p.Lys155Arg) c.560A>G (p.Lys187Arg) | |
| 11 | g.68804091T>G | CA381636132 | CPT1A | c.464A>C (p.Lys155Thr) c.560A>C (p.Lys187Thr) | |
| 11 | g.68804092T>A | CA381636134 | CPT1A | c.463A>T (p.Lys155Ter) c.559A>T (p.Lys187Ter) | |
| 11 | g.68804092T>C | CA223393537 | CPT1A | c.463A>G (p.Lys155Glu) c.559A>G (p.Lys187Glu) | dbSNP gnomAD v4 |
| 11 | g.68804092T>G | CA381636135 | CPT1A | c.463A>C (p.Lys155Gln) c.559A>C (p.Lys187Gln) | |
| 11 | g.68804093G>A | CA475205755 | CPT1A | c.462C>T (p.Val154=) c.558C>T (p.Val186=) |