| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108606857G>T | CA258669 | COL4A5 | c.2360G>T (p.Gly787Val) n.1816G>T c.2036G>T (p.Gly679Val) c.-33+3796G>T (n.-33+3796G>T) c.2375G>T (p.Gly792Val) c.695G>T (p.Gly232Val) | dbSNP |
| X | g.108606857G>C | CA10488897 | COL4A5 | c.2360G>C (p.Gly787Ala) n.1816G>C c.2036G>C (p.Gly679Ala) c.-33+3796G>C (n.-33+3796G>C) c.2375G>C (p.Gly792Ala) c.695G>C (p.Gly232Ala) | dbSNP ExAC gnomAD v2 |