| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598805C>T | CA261066 | COL4A5 | c.1883C>T (p.Pro628Leu) n.1339C>T c.1559C>T (p.Pro520Leu) c.1898C>T (p.Pro633Leu) c.218C>T (p.Pro73Leu) | dbSNP COSMIC COSMIC |
| X | g.108598805C>A | CA10488806 | COL4A5 | c.1883C>A (p.Pro628Gln) n.1339C>A c.1559C>A (p.Pro520Gln) c.1898C>A (p.Pro633Gln) c.218C>A (p.Pro73Gln) | dbSNP ExAC gnomAD v2 |