| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86718086G>C | CA235802 | LDB3 | n.515-641G>C c.1610G>C (p.Arg537Pro) c.1658G>C (p.Arg553Pro) c.1799G>C (p.Arg600Pro) c.1469G>C (p.Arg490Pro) c.1814G>C (p.Arg605Pro) c.2051G>C (p.Arg684Pro) c.2003G>C (p.Arg668Pro) c.1862G>C (p.Arg621Pro) c.1847G>C (p.Arg616Pro) c.1706G>C (p.Arg569Pro) c.1517G>C (p.Arg506Pro) c.1502G>C (p.Arg501Pro) c.1007G>C (p.Arg336Pro) c.818G>C (p.Arg273Pro) | ClinVar dbSNP |
| 10 | g.86718086G>A | CA308648 | LDB3 | n.515-641G>A c.1610G>A (p.Arg537Gln) c.1658G>A (p.Arg553Gln) c.1799G>A (p.Arg600Gln) c.1469G>A (p.Arg490Gln) c.1814G>A (p.Arg605Gln) c.2051G>A (p.Arg684Gln) c.2003G>A (p.Arg668Gln) c.1862G>A (p.Arg621Gln) c.1847G>A (p.Arg616Gln) c.1706G>A (p.Arg569Gln) c.1517G>A (p.Arg506Gln) c.1502G>A (p.Arg501Gln) c.1007G>A (p.Arg336Gln) c.818G>A (p.Arg273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |