| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156913423C>T | CA1170618 | PEAR1 | c.2544C>T (p.Asn848=) n.2272C>T c.2571C>T (p.Asn857=) c.2439C>T (p.Asn813=) c.2037C>T (p.Asn679=) c.2352C>T (p.Asn784=) c.2808C>T (p.Asn936=) c.2676C>T (p.Asn892=) c.2160C>T (p.Asn720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156913423C>A | CA1170617 | PEAR1 | c.2544C>A (p.Asn848Lys) n.2272C>A c.2571C>A (p.Asn857Lys) c.2439C>A (p.Asn813Lys) c.2037C>A (p.Asn679Lys) c.2352C>A (p.Asn784Lys) c.2808C>A (p.Asn936Lys) c.2676C>A (p.Asn892Lys) c.2160C>A (p.Asn720Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |