| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582903G>A | CA258369 | COL4A5 | c.956G>A (p.Gly319Asp) n.412G>A c.632G>A (p.Gly211Asp) c.971G>A (p.Gly324Asp) c.-754G>A (n.-754G>A) | ClinVar dbSNP |
| X | g.108582903G>T | CA413927497 | COL4A5 | c.956G>T (p.Gly319Val) n.412G>T c.632G>T (p.Gly211Val) c.971G>T (p.Gly324Val) c.-754G>T (n.-754G>T) | ClinVar dbSNP |
| X | g.108582903G= | CA2450683806 | COL4A5 | c.956G= (p.Gly319=) n.412G= c.632G= (p.Gly211=) c.971G= (p.Gly324=) c.-754G= (n.-754G=) | dbSNP |