| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74411588T>A | CA7656879 | SEMA7A | c.1545A>T (p.Gln515His) c.1050A>T (p.Gln350His) c.1503A>T (p.Gln501His) n.52A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74411588T>C | CA7656878 | SEMA7A | c.1545A>G (p.Gln515=) c.1050A>G (p.Gln350=) c.1503A>G (p.Gln501=) n.52A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74411588T= | CA2187671589 | SEMA7A | c.1545A= (p.Gln515=) c.1050A= (p.Gln350=) c.1503A= (p.Gln501=) n.52A= | dbSNP |
| 15 | g.74411588T>G | CA393142771 | SEMA7A | c.1545A>C (p.Gln515His) c.1050A>C (p.Gln350His) c.1503A>C (p.Gln501His) n.52A>C | dbSNP |