| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.17699091G>A | CA134942060 | NUP153 | c.111+7186C>T (n.111+7186C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.17699091G>T | CA134942059 | NUP153 | c.111+7186C>A (n.111+7186C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.17699091G= | CA1613316533 | NUP153 | c.111+7186C= (n.111+7186C=) | dbSNP |