| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108603045G>A | CA258639 | COL4A5 | c.2228G>A (p.Gly743Asp) n.1684G>A c.1904G>A (p.Gly635Asp) c.-49G>A (n.-49G>A) c.2243G>A (p.Gly748Asp) c.563G>A (p.Gly188Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108603045G>C | CA413847545 | COL4A5 | c.2228G>C (p.Gly743Ala) n.1684G>C c.1904G>C (p.Gly635Ala) c.-49G>C (n.-49G>C) c.2243G>C (p.Gly748Ala) c.563G>C (p.Gly188Ala) | dbSNP gnomAD v4 |