| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81629785C>A | CA502298205 | NPLOC4 | c.165G>T (p.Pro55=) c.36G>T (p.Pro12=) n.57G>T c.33G>T (p.Pro11=) n.254G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81629785C>T | CA8838541 | NPLOC4 | c.165G>A (p.Pro55=) c.36G>A (p.Pro12=) n.57G>A c.33G>A (p.Pro11=) n.254G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81629785C>G | CA502298206 | NPLOC4 | c.165G>C (p.Pro55=) c.36G>C (p.Pro12=) n.57G>C c.33G>C (p.Pro11=) n.254G>C | dbSNP |