| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68295271C>G | CA16602529 | PIK3R1 | c.792C>G (p.Asn264Lys) c.882C>G (p.Asn294Lys) c.1692C>G (p.Asn564Lys) c.*662C>G (n.*662C>G) c.1617C>G (p.Asn539Lys) c.1167C>G (p.Asn389Lys) n.1333C>G c.*658C>G (n.*658C>G) c.729C>G (p.Asn243Lys) c.699C>G (p.Asn233Lys) c.603C>G (p.Asn201Lys) c.675C>G (p.Asn225Lys) c.384C>G (p.Asn128Lys) c.288C>G (p.Asn96Lys) n.2235C>G n.1091C>G c.1365C>G (p.Asn455Lys) c.1419C>G (p.Asn473Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295271C>A | CA16602528 | PIK3R1 | c.792C>A (p.Asn264Lys) c.882C>A (p.Asn294Lys) c.1692C>A (p.Asn564Lys) c.*662C>A (n.*662C>A) c.1617C>A (p.Asn539Lys) c.1167C>A (p.Asn389Lys) n.1333C>A c.*658C>A (n.*658C>A) c.729C>A (p.Asn243Lys) c.699C>A (p.Asn233Lys) c.603C>A (p.Asn201Lys) c.675C>A (p.Asn225Lys) c.384C>A (p.Asn128Lys) c.288C>A (p.Asn96Lys) n.2235C>A n.1091C>A c.1365C>A (p.Asn455Lys) c.1419C>A (p.Asn473Lys) | ClinVar dbSNP |
| 5 | g.68295271C>T | CA3290460 | PIK3R1 | c.792C>T (p.Asn264=) c.882C>T (p.Asn294=) c.1692C>T (p.Asn564=) c.*662C>T (n.*662C>T) c.1617C>T (p.Asn539=) c.1167C>T (p.Asn389=) n.1333C>T c.*658C>T (n.*658C>T) c.729C>T (p.Asn243=) c.699C>T (p.Asn233=) c.603C>T (p.Asn201=) c.675C>T (p.Asn225=) c.384C>T (p.Asn128=) c.288C>T (p.Asn96=) n.2235C>T n.1091C>T c.1365C>T (p.Asn455=) c.1419C>T (p.Asn473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.68295271C= | CA1553406169 | PIK3R1 | c.792C= (p.Asn264=) c.882C= (p.Asn294=) c.1692C= (p.Asn564=) c.*662C= (n.*662C=) c.1617C= (p.Asn539=) c.1167C= (p.Asn389=) n.1333C= c.*658C= (n.*658C=) c.729C= (p.Asn243=) c.699C= (p.Asn233=) c.603C= (p.Asn201=) c.675C= (p.Asn225=) c.384C= (p.Asn128=) c.288C= (p.Asn96=) n.2235C= n.1091C= c.1365C= (p.Asn455=) c.1419C= (p.Asn473=) | dbSNP |