| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94800278G>T | CA382399363 | AMOTL1 | c.1088G>T (p.Arg363Leu) c.938G>T (p.Arg313Leu) c.1175G>T (p.Arg392Leu) c.830G>T (p.Arg277Leu) c.1025G>T (p.Arg342Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.94800278G>A | CA6237083 | AMOTL1 | c.1088G>A (p.Arg363Gln) c.938G>A (p.Arg313Gln) c.1175G>A (p.Arg392Gln) c.830G>A (p.Arg277Gln) c.1025G>A (p.Arg342Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |