| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1805644C>G | CA341412 | FGFR3 | c.1626C>G (p.Asn542Lys) c.*676C>G (n.*676C>G) c.1284C>G (p.Asn428Lys) c.1608C>G (p.Asn536Lys) c.1620C>G (p.Asn540Lys) c.1623C>G (p.Asn541Lys) n.686C>G c.1632C>G (p.Asn544Lys) c.1629C>G (p.Asn543Lys) n.2027C>G n.2046C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.1805644C>A | CA341410 | FGFR3 | c.1626C>A (p.Asn542Lys) c.*676C>A (n.*676C>A) c.1284C>A (p.Asn428Lys) c.1608C>A (p.Asn536Lys) c.1620C>A (p.Asn540Lys) c.1623C>A (p.Asn541Lys) n.686C>A c.1632C>A (p.Asn544Lys) c.1629C>A (p.Asn543Lys) n.2027C>A n.2046C>A | ClinVar dbSNP gnomAD v2 |
| 4 | g.1805644C>T | CA2810484 | FGFR3 | c.1626C>T (p.Asn542=) c.*676C>T (n.*676C>T) c.1284C>T (p.Asn428=) c.1608C>T (p.Asn536=) c.1620C>T (p.Asn540=) c.1623C>T (p.Asn541=) n.686C>T c.1632C>T (p.Asn544=) c.1629C>T (p.Asn543=) n.2027C>T n.2046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |