| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.52378012G>A | CA6991882 | THSD1 | c.1958C>T (p.Thr653Ile) c.1799C>T (p.Thr600Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.52378012G= | CA2091748173 | THSD1 | c.1958C= (p.Thr653=) c.1799C= (p.Thr600=) | dbSNP |
| 13 | g.52378012G>C | CA388018367 | THSD1 | c.1958C>G (p.Thr653Arg) c.1799C>G (p.Thr600Arg) | dbSNP gnomAD v4 |