| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812432C>T | CA6152729 | CPT1A | c.281+5G>A (n.281+5G>A) c.377+5G>A (n.377+5G>A) | dbSNP ExAC |
| 11 | g.68812435A>C | CA381637697 | CPT1A | c.281+2T>G (n.281+2T>G) c.377+2T>G (n.377+2T>G) | |
| 11 | g.68812435A>G | CA381637699 | CPT1A | c.281+2T>C (n.281+2T>C) c.377+2T>C (n.377+2T>C) | |
| 11 | g.68812435A>T | CA381637701 | CPT1A | c.281+2T>A (n.281+2T>A) c.377+2T>A (n.377+2T>A) | |
| 11 | g.68812436C>A | CA381637704 | CPT1A | c.281+1G>T (n.281+1G>T) c.377+1G>T (n.377+1G>T) | |
| 11 | g.68812436C>G | CA381637707 | CPT1A | c.281+1G>C (n.281+1G>C) c.377+1G>C (n.377+1G>C) | |
| 11 | g.68812436C>T | CA221858 | CPT1A | c.281+1G>A (n.281+1G>A) c.377+1G>A (n.377+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812437G>A | CA6152730 | CPT1A | c.281C>T (p.Ala94Val) c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812437G>C | CA381637711 | CPT1A | c.281C>G (p.Ala94Gly) c.377C>G (p.Ala126Gly) | |
| 11 | g.68812437G>T | CA381637713 | CPT1A | c.281C>A (p.Ala94Asp) c.377C>A (p.Ala126Asp) | |
| 11 | g.68812438C>A | CA381637716 | CPT1A | c.280G>T (p.Ala94Ser) c.280G>T c.376G>T (p.Ala126Ser) | |
| 11 | g.68812438C>G | CA381637718 | CPT1A | c.280G>C (p.Ala94Pro) c.280G>C c.376G>C (p.Ala126Pro) | |
| 11 | g.68812438C>T | CA381637720 | CPT1A | c.280G>A (p.Ala94Thr) c.280G>A c.376G>A (p.Ala126Thr) | dbSNP |
| 11 | g.68812439C>A | CA475207487 | CPT1A | c.279G>T (p.Thr93=) c.375G>T (p.Thr125=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812439C>G | CA475207488 | CPT1A | c.279G>C (p.Thr93=) c.375G>C (p.Thr125=) | |
| 11 | g.68812439C>T | CA6152731 | CPT1A | c.279G>A (p.Thr93=) c.375G>A (p.Thr125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812440G>A | CA6152732 | CPT1A | c.278C>T (p.Thr93Met) c.374C>T (p.Thr125Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812440G>C | CA381637725 | CPT1A | c.278C>G (p.Thr93Arg) c.374C>G (p.Thr125Arg) | |
| 11 | g.68812440G>T | CA381637728 | CPT1A | c.278C>A (p.Thr93Lys) c.374C>A (p.Thr125Lys) | |
| 11 | g.68812441T>A | CA381637733 | CPT1A | c.277A>T (p.Thr93Ser) c.373A>T (p.Thr125Ser) | |
| 11 | g.68812441T>C | CA381637735 | CPT1A | c.277A>G (p.Thr93Ala) c.373A>G (p.Thr125Ala) | |
| 11 | g.68812441T>G | CA381637737 | CPT1A | c.277A>C (p.Thr93Pro) c.373A>C (p.Thr125Pro) | ClinVar dbSNP |
| 11 | g.68812442T>A | CA381637740 | CPT1A | c.276A>T (p.Glu92Asp) c.372A>T (p.Glu124Asp) | |
| 11 | g.68812442T>C | CA475207489 | CPT1A | c.276A>G (p.Glu92=) c.372A>G (p.Glu124=) | |
| 11 | g.68812442T>G | CA381637742 | CPT1A | c.276A>C (p.Glu92Asp) c.372A>C (p.Glu124Asp) | |
| 11 | g.68812443T>A | CA381637744 | CPT1A | c.275A>T (p.Glu92Val) c.371A>T (p.Glu124Val) | |
| 11 | g.68812443T>C | CA381637747 | CPT1A | c.275A>G (p.Glu92Gly) c.371A>G (p.Glu124Gly) | |
| 11 | g.68812443T>G | CA381637749 | CPT1A | c.275A>C (p.Glu92Ala) c.371A>C (p.Glu124Ala) | |
| 11 | g.68812444C>A | CA381637752 | CPT1A | c.274G>T (p.Glu92Ter) c.370G>T (p.Glu124Ter) | |
| 11 | g.68812444C>G | CA381637753 | CPT1A | c.274G>C (p.Glu92Gln) c.370G>C (p.Glu124Gln) | |
| 11 | g.68812444C>T | CA381637755 | CPT1A | c.274G>A (p.Glu92Lys) c.370G>A (p.Glu124Lys) | |
| 11 | g.68812445C>A | CA475207490 | CPT1A | c.273G>T (p.Leu91=) c.369G>T (p.Leu123=) | |
| 11 | g.68812445C>G | CA475207491 | CPT1A | c.273G>C (p.Leu91=) c.369G>C (p.Leu123=) | |
| 11 | g.68812445C>T | CA475207492 | CPT1A | c.273G>A (p.Leu91=) c.369G>A (p.Leu123=) | |
| 11 | g.68812446A>C | CA381637763 | CPT1A | c.272T>G (p.Leu91Arg) c.368T>G (p.Leu123Arg) | |
| 11 | g.68812446A>G | CA381637761 | CPT1A | c.272T>C (p.Leu91Pro) c.368T>C (p.Leu123Pro) | |
| 11 | g.68812446A>T | CA381637758 | CPT1A | c.272T>A (p.Leu91Gln) c.368T>A (p.Leu123Gln) | |
| 11 | g.68812447G>A | CA475207493 | CPT1A | c.271C>T (p.Leu91=) c.367C>T (p.Leu123=) | |
| 11 | g.68812447G>C | CA381637766 | CPT1A | c.271C>G (p.Leu91Val) c.367C>G (p.Leu123Val) | |
| 11 | g.68812447G>T | CA381637768 | CPT1A | c.271C>A (p.Leu91Met) c.367C>A (p.Leu123Met) | |
| 11 | g.68812448A>C | CA475207494 | CPT1A | c.270T>G (p.Thr90=) c.366T>G (p.Thr122=) | |
| 11 | g.68812448A>G | CA475207495 | CPT1A | c.270T>C (p.Thr90=) c.366T>C (p.Thr122=) | dbSNP |
| 11 | g.68812448A>T | CA475207496 | CPT1A | c.270T>A (p.Thr90=) c.366T>A (p.Thr122=) | |
| 11 | g.68812449G>A | CA381637772 | CPT1A | c.269C>T (p.Thr90Ile) c.365C>T (p.Thr122Ile) | |
| 11 | g.68812449G>C | CA381637774 | CPT1A | c.269C>G (p.Thr90Ser) c.365C>G (p.Thr122Ser) | |
| 11 | g.68812449G>T | CA381637776 | CPT1A | c.269C>A (p.Thr90Asn) c.365C>A (p.Thr122Asn) | |
| 11 | g.68812450T>A | CA381637780 | CPT1A | c.268A>T (p.Thr90Ser) c.364A>T (p.Thr122Ser) | |
| 11 | g.68812450T>C | CA381637781 | CPT1A | c.268A>G (p.Thr90Ala) c.364A>G (p.Thr122Ala) | |
| 11 | g.68812450T>G | CA381637784 | CPT1A | c.268A>C (p.Thr90Pro) c.364A>C (p.Thr122Pro) | |
| 11 | g.68812451C>A | CA475207499 | CPT1A | c.267G>T (p.Arg89=) c.363G>T (p.Arg121=) |