| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.52378171C>T | CA6991914 | THSD1 | c.1799G>A (p.Gly600Glu) c.1640G>A (p.Gly547Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.52378171C>G | CA6991915 | THSD1 | c.1799G>C (p.Gly600Ala) c.1640G>C (p.Gly547Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.52378171C= | CA2091748252 | THSD1 | c.1799G= (p.Gly600=) c.1640G= (p.Gly547=) | dbSNP |