| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36219940C>G | CA274932 | CLTA,GNE | c.1807G>C (p.Val603Leu) c.1537G>C (p.Val513Leu) c.1714G>C (p.Val572Leu) c.1492G>C (p.Val498Leu) c.485+15761C>G (n.485+15761C>G) c.1384G>C (p.Val462Leu) c.1699G>C (p.Val567Leu) c.1654G>C (p.Val552Leu) c.1561G>C (p.Val521Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36219940C>A | CA373425687 | CLTA,GNE | c.1807G>T (p.Val603Leu) c.1537G>T (p.Val513Leu) c.1714G>T (p.Val572Leu) c.1492G>T (p.Val498Leu) c.485+15761C>A (n.485+15761C>A) c.1384G>T (p.Val462Leu) c.1699G>T (p.Val567Leu) c.1654G>T (p.Val552Leu) c.1561G>T (p.Val521Leu) | dbSNP gnomAD v4 |
| 9 | g.36219940C= | CA1846328712 | CLTA,GNE | c.1807G= (p.Val603=) c.1537G= (p.Val513=) c.1714G= (p.Val572=) c.1492G= (p.Val498=) c.485+15761C= (n.485+15761C=) c.1384G= (p.Val462=) c.1699G= (p.Val567=) c.1654G= (p.Val552=) c.1561G= (p.Val521=) | dbSNP |