| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780673C>A | CA381630739 | CPT1A | c.1425G>T (p.Trp475Cys) c.1521G>T (p.Trp507Cys) | |
| 11 | g.68780673C= | CA2581028848 | CPT1A | c.1425G= (p.Trp475=) c.1521G= (p.Trp507=) | |
| 11 | g.68780673C>G | CA381630740 | CPT1A | c.1425G>C (p.Trp475Cys) c.1521G>C (p.Trp507Cys) | |
| 11 | g.68780673C>T | CA344967 | CPT1A | c.1425G>A (p.Trp475Ter) c.1521G>A (p.Trp507Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780674C>A | CA381630741 | CPT1A | c.1424G>T (p.Trp475Leu) c.1520G>T (p.Trp507Leu) | |
| 11 | g.68780674C>G | CA381630742 | CPT1A | c.1424G>C (p.Trp475Ser) c.1520G>C (p.Trp507Ser) | |
| 11 | g.68780674C>T | CA381630743 | CPT1A | c.1424G>A (p.Trp475Ter) c.1520G>A (p.Trp507Ter) | |
| 11 | g.68780675A>C | CA381630744 | CPT1A | c.1423T>G (p.Trp475Gly) c.1519T>G (p.Trp507Gly) | |
| 11 | g.68780675A>G | CA381630745 | CPT1A | c.1423T>C (p.Trp475Arg) c.1519T>C (p.Trp507Arg) | |
| 11 | g.68780675A>T | CA381630746 | CPT1A | c.1423T>A (p.Trp475Arg) c.1519T>A (p.Trp507Arg) | |
| 11 | g.68780676G>A | CA475192811 | CPT1A | c.1422C>T (p.Ser474=) c.1518C>T (p.Ser506=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780676G>C | CA475192814 | CPT1A | c.1422C>G (p.Ser474=) c.1518C>G (p.Ser506=) | |
| 11 | g.68780676G>T | CA475192818 | CPT1A | c.1422C>A (p.Ser474=) c.1518C>A (p.Ser506=) | |
| 11 | g.68780677G>A | CA381630747 | CPT1A | c.1421C>T (p.Ser474Phe) c.1517C>T (p.Ser506Phe) | |
| 11 | g.68780677G>C | CA381630749 | CPT1A | c.1421C>G (p.Ser474Cys) c.1517C>G (p.Ser506Cys) | |
| 11 | g.68780677G>T | CA381630748 | CPT1A | c.1421C>A (p.Ser474Tyr) c.1517C>A (p.Ser506Tyr) | |
| 11 | g.68780678A>C | CA381630750 | CPT1A | c.1420T>G (p.Ser474Ala) c.1516T>G (p.Ser506Ala) | |
| 11 | g.68780678A>G | CA381630751 | CPT1A | c.1420T>C (p.Ser474Pro) c.1516T>C (p.Ser506Pro) | |
| 11 | g.68780678A>T | CA381630752 | CPT1A | c.1420T>A (p.Ser474Thr) c.1516T>A (p.Ser506Thr) | |
| 11 | g.68780679G>A | CA475192835 | CPT1A | c.1419C>T (p.His473=) c.1515C>T (p.His505=) | |
| 11 | g.68780679G>C | CA381630753 | CPT1A | c.1419C>G (p.His473Gln) c.1515C>G (p.His505Gln) | gnomAD v4 |
| 11 | g.68780679G>T | CA381630754 | CPT1A | c.1419C>A (p.His473Gln) c.1515C>A (p.His505Gln) | |
| 11 | g.68780680T>A | CA381630755 | CPT1A | c.1418A>T (p.His473Leu) c.1514A>T (p.His505Leu) | |
| 11 | g.68780680T>C | CA381630756 | CPT1A | c.1418A>G (p.His473Arg) c.1514A>G (p.His505Arg) | dbSNP gnomAD v4 |
| 11 | g.68780680T>G | CA381630757 | CPT1A | c.1418A>C (p.His473Pro) c.1514A>C (p.His505Pro) | |
| 11 | g.68780681G>A | CA381630758 | CPT1A | c.1417C>T (p.His473Tyr) c.1513C>T (p.His505Tyr) | gnomAD v4 |
| 11 | g.68780681G>C | CA381630759 | CPT1A | c.1417C>G (p.His473Asp) c.1513C>G (p.His505Asp) | |
| 11 | g.68780681G>T | CA381630760 | CPT1A | c.1417C>A (p.His473Asn) c.1513C>A (p.His505Asn) | |
| 11 | g.68780682T>A | CA381630761 | CPT1A | c.1416A>T (p.Glu472Asp) c.1512A>T (p.Glu504Asp) | |
| 11 | g.68780682T>C | CA475192864 | CPT1A | c.1416A>G (p.Glu472=) c.1512A>G (p.Glu504=) | |
| 11 | g.68780682T>G | CA381630762 | CPT1A | c.1416A>C (p.Glu472Asp) c.1512A>C (p.Glu504Asp) | |
| 11 | g.68780683T>A | CA381630765 | CPT1A | c.1415A>T (p.Glu472Val) c.1511A>T (p.Glu504Val) | |
| 11 | g.68780683T>C | CA381630763 | CPT1A | c.1415A>G (p.Glu472Gly) c.1511A>G (p.Glu504Gly) | |
| 11 | g.68780683T>G | CA381630764 | CPT1A | c.1415A>C (p.Glu472Ala) c.1511A>C (p.Glu504Ala) | |
| 11 | g.68780684C>A | CA381630766 | CPT1A | c.1414G>T (p.Glu472Ter) c.1510G>T (p.Glu504Ter) | |
| 11 | g.68780684C>G | CA381630767 | CPT1A | c.1414G>C (p.Glu472Gln) c.1510G>C (p.Glu504Gln) | |
| 11 | g.68780684C>T | CA381630768 | CPT1A | c.1414G>A (p.Glu472Lys) c.1510G>A (p.Glu504Lys) | |
| 11 | g.68780685A>C | CA475192890 | CPT1A | c.1413T>G (p.Ala471=) c.1509T>G (p.Ala503=) | |
| 11 | g.68780685A>G | CA475192892 | CPT1A | c.1413T>C (p.Ala471=) c.1509T>C (p.Ala503=) | dbSNP |
| 11 | g.68780685A>T | CA475192895 | CPT1A | c.1413T>A (p.Ala471=) c.1509T>A (p.Ala503=) | |
| 11 | g.68780686G>A | CA381630769 | CPT1A | c.1412C>T (p.Ala471Val) c.1508C>T (p.Ala503Val) | |
| 11 | g.68780686G>C | CA381630770 | CPT1A | c.1412C>G (p.Ala471Gly) c.1508C>G (p.Ala503Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780686G>T | CA381630771 | CPT1A | c.1412C>A (p.Ala471Asp) c.1508C>A (p.Ala503Asp) | |
| 11 | g.68780687C>A | CA381630772 | CPT1A | c.1411G>T (p.Ala471Ser) c.1507G>T (p.Ala503Ser) | |
| 11 | g.68780687C>G | CA381630773 | CPT1A | c.1411G>C (p.Ala471Pro) c.1507G>C (p.Ala503Pro) | dbSNP |
| 11 | g.68780687C>T | CA381630774 | CPT1A | c.1411G>A (p.Ala471Thr) c.1507G>A (p.Ala503Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>A | CA6152310 | CPT1A | c.1410C>T (p.Asn470=) c.1506C>T (p.Asn502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>C | CA381630775 | CPT1A | c.1410C>G (p.Asn470Lys) c.1506C>G (p.Asn502Lys) | |
| 11 | g.68780688G>T | CA381630776 | CPT1A | c.1410C>A (p.Asn470Lys) c.1506C>A (p.Asn502Lys) | |
| 11 | g.68780689T>A | CA381630777 | CPT1A | c.1409A>T (p.Asn470Ile) c.1505A>T (p.Asn502Ile) |