| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625734C>T | CA258796 | COL4A5 | c.3046C>T (p.Gln1016Ter) n.2502C>T c.279C>T c.2722C>T (p.Gln908Ter) c.619C>T (p.Gln207Ter) c.3061C>T (p.Gln1021Ter) c.1381C>T (p.Gln461Ter) | dbSNP |
| X | g.108625734C= | CA2450697899 | COL4A5 | c.3046C= (p.Gln1016=) n.2502C= c.279C= c.2722C= (p.Gln908=) c.619C= (p.Gln207=) c.3061C= (p.Gln1021=) c.1381C= (p.Gln461=) | dbSNP dbSNP |