| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812532C>A | CA381638101 | CPT1A | c.186G>T (p.Trp62Cys) c.282G>T (p.Trp94Cys) | gnomAD v4 |
| 11 | g.68812532C>G | CA381638102 | CPT1A | c.186G>C (p.Trp62Cys) c.282G>C (p.Trp94Cys) | |
| 11 | g.68812532C>T | CA16041544 | CPT1A | c.186G>A (p.Trp62Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
| 11 | g.68812533C>A | CA381638103 | CPT1A | c.185G>T (p.Trp62Leu) c.281G>T (p.Trp94Leu) | |
| 11 | g.68812533C>G | CA381638104 | CPT1A | c.185G>C (p.Trp62Ser) c.281G>C (p.Trp94Ser) | |
| 11 | g.68812533C>T | CA381638105 | CPT1A | c.185G>A (p.Trp62Ter) c.281G>A (p.Trp94Ter) | |
| 11 | g.68812534A>C | CA381638106 | CPT1A | c.184T>G (p.Trp62Gly) c.280T>G (p.Trp94Gly) | |
| 11 | g.68812534A>G | CA381638107 | CPT1A | c.184T>C (p.Trp62Arg) c.280T>C (p.Trp94Arg) | |
| 11 | g.68812534A>T | CA381638108 | CPT1A | c.184T>A (p.Trp62Arg) c.280T>A (p.Trp94Arg) | |
| 11 | g.68812535A>C | CA381638109 | CPT1A | c.183T>G (p.Ser61Arg) c.279T>G (p.Ser93Arg) | |
| 11 | g.68812535A>G | CA475207551 | CPT1A | c.183T>C (p.Ser61=) c.279T>C (p.Ser93=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812535A>T | CA381638110 | CPT1A | c.183T>A (p.Ser61Arg) c.279T>A (p.Ser93Arg) | |
| 11 | g.68812536C>A | CA381638111 | CPT1A | c.182G>T (p.Ser61Ile) c.278G>T (p.Ser93Ile) | |
| 11 | g.68812536C>G | CA381638112 | CPT1A | c.182G>C (p.Ser61Thr) c.278G>C (p.Ser93Thr) | |
| 11 | g.68812536C>T | CA381638113 | CPT1A | c.182G>A (p.Ser61Asn) c.278G>A (p.Ser93Asn) | |
| 11 | g.68812537T>A | CA381638114 | CPT1A | c.181A>T (p.Ser61Cys) c.277A>T (p.Ser93Cys) | |
| 11 | g.68812537T>C | CA381638116 | CPT1A | c.181A>G (p.Ser61Gly) c.277A>G (p.Ser93Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812537T>G | CA381638115 | CPT1A | c.181A>C (p.Ser61Arg) c.277A>C (p.Ser93Arg) | COSMIC COSMIC |
| 11 | g.68812538G>A | CA475207552 | CPT1A | c.180C>T (p.Ser60=) c.276C>T (p.Ser92=) | |
| 11 | g.68812538G>C | CA475207553 | CPT1A | c.180C>G (p.Ser60=) c.276C>G (p.Ser92=) | |
| 11 | g.68812538G>T | CA475207554 | CPT1A | c.180C>A (p.Ser60=) c.276C>A (p.Ser92=) | |
| 11 | g.68812539G>A | CA381638117 | CPT1A | c.179C>T (p.Ser60Phe) c.275C>T (p.Ser92Phe) | |
| 11 | g.68812539G>C | CA381638118 | CPT1A | c.179C>G (p.Ser60Cys) c.275C>G (p.Ser92Cys) | |
| 11 | g.68812539G>T | CA381638119 | CPT1A | c.179C>A (p.Ser60Tyr) c.275C>A (p.Ser92Tyr) | |
| 11 | g.68812540A>C | CA381638120 | CPT1A | c.178T>G (p.Ser60Ala) c.274T>G (p.Ser92Ala) | |
| 11 | g.68812540A>G | CA381638121 | CPT1A | c.178T>C (p.Ser60Pro) c.274T>C (p.Ser92Pro) | |
| 11 | g.68812540A>T | CA381638122 | CPT1A | c.178T>A (p.Ser60Thr) c.274T>A (p.Ser92Thr) | |
| 11 | g.68812541G>A | CA475207555 | CPT1A | c.177C>T (p.Pro59=) c.273C>T (p.Pro91=) | |
| 11 | g.68812541G>C | CA475207556 | CPT1A | c.177C>G (p.Pro59=) c.273C>G (p.Pro91=) | |
| 11 | g.68812541G>T | CA475207557 | CPT1A | c.177C>A (p.Pro59=) c.273C>A (p.Pro91=) | |
| 11 | g.68812542G>A | CA6152753 | CPT1A | c.176C>T (p.Pro59Leu) c.272C>T (p.Pro91Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812542G>C | CA381638123 | CPT1A | c.176C>G (p.Pro59Arg) c.272C>G (p.Pro91Arg) | |
| 11 | g.68812542G>T | CA381638124 | CPT1A | c.176C>A (p.Pro59His) c.272C>A (p.Pro91His) | gnomAD v4 |
| 11 | g.68812543G>A | CA6152754 | CPT1A | c.175C>T (p.Pro59Ser) c.271C>T (p.Pro91Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812543G>C | CA381638126 | CPT1A | c.175C>G (p.Pro59Ala) c.271C>G (p.Pro91Ala) | gnomAD v4 |
| 11 | g.68812543G>T | CA381638125 | CPT1A | c.175C>A (p.Pro59Thr) c.271C>A (p.Pro91Thr) | |
| 11 | g.68812544G>A | CA475207559 | CPT1A | c.174C>T (p.Ser58=) c.270C>T (p.Ser90=) | |
| 11 | g.68812544G>C | CA381638127 | CPT1A | c.174C>G (p.Ser58Arg) c.270C>G (p.Ser90Arg) | |
| 11 | g.68812544G>T | CA381638128 | CPT1A | c.174C>A (p.Ser58Arg) c.270C>A (p.Ser90Arg) | |
| 11 | g.68812545C>A | CA381638129 | CPT1A | c.173G>T (p.Ser58Ile) c.269G>T (p.Ser90Ile) | |
| 11 | g.68812545C>G | CA381638130 | CPT1A | c.173G>C (p.Ser58Thr) c.269G>C (p.Ser90Thr) | |
| 11 | g.68812545C>T | CA381638131 | CPT1A | c.173G>A (p.Ser58Asn) c.269G>A (p.Ser90Asn) | |
| 11 | g.68812546T>A | CA381638132 | CPT1A | c.172A>T (p.Ser58Cys) c.268A>T (p.Ser90Cys) | |
| 11 | g.68812546T>C | CA6152755 | CPT1A | c.172A>G (p.Ser58Gly) c.268A>G (p.Ser90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812546T>G | CA381638133 | CPT1A | c.172A>C (p.Ser58Arg) c.268A>C (p.Ser90Arg) | |
| 11 | g.68812547T>A | CA475207560 | CPT1A | c.171A>T (p.Ala57=) c.267A>T (p.Ala89=) | |
| 11 | g.68812547T>C | CA6152756 | CPT1A | c.171A>G (p.Ala57=) c.267A>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812547T>G | CA475207562 | CPT1A | c.171A>C (p.Ala57=) c.267A>C (p.Ala89=) | |
| 11 | g.68812548G>A | CA381638134 | CPT1A | c.170C>T (p.Ala57Val) c.266C>T (p.Ala89Val) | |
| 11 | g.68812548G>C | CA381638135 | CPT1A | c.170C>G (p.Ala57Gly) c.266C>G (p.Ala89Gly) |