| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156909788C>T | CA1170212 | PEAR1 | c.1449C>T (p.Pro483=) n.1177C>T c.1476C>T (p.Pro492=) c.1344C>T (p.Pro448=) c.942C>T (p.Pro314=) c.1257C>T (p.Pro419=) c.1713C>T (p.Pro571=) c.1581C>T (p.Pro527=) c.1065C>T (p.Pro355=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156909788C= | CA1139990788 | PEAR1 | c.1449C= (p.Pro483=) n.1177C= c.1476C= (p.Pro492=) c.1344C= (p.Pro448=) c.942C= (p.Pro314=) c.1257C= (p.Pro419=) c.1713C= (p.Pro571=) c.1581C= (p.Pro527=) c.1065C= (p.Pro355=) | dbSNP |