| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582902G>C | CA258367 | COL4A5 | c.955G>C (p.Gly319Arg) n.411G>C c.631G>C (p.Gly211Arg) c.970G>C (p.Gly324Arg) c.-755G>C (n.-755G>C) | ClinVar dbSNP |
| X | g.108582902G= | CA2450683805 | COL4A5 | c.955G= (p.Gly319=) n.411G= c.631G= (p.Gly211=) c.970G= (p.Gly324=) c.-755G= (n.-755G=) | dbSNP |