| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.122488946G>T | CA5725840 | HTRA1 | c.517G>T (p.Ala173Ser) c.199G>T (p.Ala67Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122488946G>C | CA350988 | HTRA1 | c.517G>C (p.Ala173Pro) c.199G>C (p.Ala67Pro) | ClinVar dbSNP |
| 10 | g.122488946G>A | CA5725839 | HTRA1 | c.517G>A (p.Ala173Thr) c.199G>A (p.Ala67Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |