| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.122462103C>T | CA16621612 | HTRA1 | c.451C>T (p.Gln151Ter) c.154+3394C>T (n.154+3394C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.122462103C>A | CA5725811 | HTRA1 | c.451C>A (p.Gln151Lys) c.154+3394C>A (n.154+3394C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122462103C= | CA1941460046 | HTRA1 | c.451C= (p.Gln151=) c.154+3394C= (n.154+3394C=) | dbSNP |