| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108696350G>T | CA261107 | COL4A5 | c.5048G>T (p.Arg1683Leu) c.5030G>T (p.Arg1677Leu) n.1542G>T n.2736G>T c.273G>T (n.273G>T) c.378G>T c.5039G>T (p.Arg1680Leu) c.4724G>T (p.Arg1575Leu) c.2621G>T (p.Arg874Leu) c.5063G>T (p.Arg1688Leu) c.5054G>T (p.Arg1685Leu) c.5045G>T (p.Arg1682Leu) c.3383G>T (p.Arg1128Leu) | dbSNP |
| X | g.108696350G>C | CA259150 | COL4A5 | c.5048G>C (p.Arg1683Pro) c.5030G>C (p.Arg1677Pro) n.1542G>C n.2736G>C c.273G>C (n.273G>C) c.378G>C c.5039G>C (p.Arg1680Pro) c.4724G>C (p.Arg1575Pro) c.2621G>C (p.Arg874Pro) c.5063G>C (p.Arg1688Pro) c.5054G>C (p.Arg1685Pro) c.5045G>C (p.Arg1682Pro) c.3383G>C (p.Arg1128Pro) | dbSNP |
| X | g.108696350G>A | CA340981 | COL4A5 | c.5048G>A (p.Arg1683Gln) c.5030G>A (p.Arg1677Gln) n.1542G>A n.2736G>A c.273G>A (n.273G>A) c.378G>A c.5039G>A (p.Arg1680Gln) c.4724G>A (p.Arg1575Gln) c.2621G>A (p.Arg874Gln) c.5063G>A (p.Arg1688Gln) c.5054G>A (p.Arg1685Gln) c.5045G>A (p.Arg1682Gln) c.3383G>A (p.Arg1128Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |