| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108603032C>G | CA10488868 | COL4A5 | c.2215C>G (p.Pro739Ala) n.1671C>G c.1891C>G (p.Pro631Ala) c.-62C>G (n.-62C>G) c.2230C>G (p.Pro744Ala) c.550C>G (p.Pro184Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108603032C>T | CA258635 | COL4A5 | c.2215C>T (p.Pro739Ser) n.1671C>T c.1891C>T (p.Pro631Ser) c.-62C>T (n.-62C>T) c.2230C>T (p.Pro744Ser) c.550C>T (p.Pro184Ser) | dbSNP gnomAD v4 |