| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626300G>A | CA413855023 | COL4A5 | c.3197G>A (p.Gly1066Asp) n.2653G>A c.430G>A c.2873G>A (p.Gly958Asp) c.770G>A (p.Gly257Asp) c.3212G>A (p.Gly1071Asp) c.1532G>A (p.Gly511Asp) | ClinVar dbSNP |
| X | g.108626300G>C | CA258829 | COL4A5 | c.3197G>C (p.Gly1066Ala) n.2653G>C c.430G>C c.2873G>C (p.Gly958Ala) c.770G>C (p.Gly257Ala) c.3212G>C (p.Gly1071Ala) c.1532G>C (p.Gly511Ala) | dbSNP |
| X | g.108626300G>T | CA413855024 | COL4A5 | c.3197G>T (p.Gly1066Val) n.2653G>T c.430G>T c.2873G>T (p.Gly958Val) c.770G>T (p.Gly257Val) c.3212G>T (p.Gly1071Val) c.1532G>T (p.Gly511Val) | ClinVar dbSNP |