| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598783G>A | CA334038941 | COL4A5 | c.1861G>A (p.Gly621Ser) n.1317G>A c.1537G>A (p.Gly513Ser) c.1876G>A (p.Gly626Ser) c.196G>A (p.Gly66Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108598783G>T | CA258558 | COL4A5 | c.1861G>T (p.Gly621Cys) n.1317G>T c.1537G>T (p.Gly513Cys) c.1876G>T (p.Gly626Cys) c.196G>T (p.Gly66Cys) | dbSNP |
| X | g.108598783G= | CA2450688837 | COL4A5 | c.1861G= (p.Gly621=) n.1317G= c.1537G= (p.Gly513=) c.1876G= (p.Gly626=) c.196G= (p.Gly66=) | dbSNP |