| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38417331G>T | CA357830 | FGFR1 | c.1638C>A (p.Asn546Lys) c.1626C>A (p.Asn542Lys) n.2531C>A n.404C>A c.1818C>A (p.Asn606Lys) n.2326C>A c.1359C>A (p.Asn453Lys) c.*1284C>A (n.*1284C>A) c.*1605C>A (n.*1605C>A) n.3132C>A c.1365C>A (p.Asn455Lys) c.1608C>A (p.Asn536Lys) c.*688C>A (n.*688C>A) c.1371C>A (p.Asn457Lys) c.1632C>A (p.Asn544Lys) c.1731C>A (p.Asn577Lys) n.805C>A c.1515C>A (n.1515C>A) n.3917C>A n.1160C>A n.184C>A c.*533C>A (n.*533C>A) c.1614C>A (p.Asn538Lys) c.1737C>A (p.Asn579Lys) c.1470C>A (p.Asn490Lys) c.1464C>A (p.Asn488Lys) c.1347C>A (p.Asn449Lys) c.1725C>A (p.Asn575Lys) c.1458C>A (p.Asn486Lys) c.666C>A (p.Asn222Lys) n.1886C>A | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.38417331G>A | CA4718326 | FGFR1 | c.1638C>T (p.Asn546=) c.1626C>T (p.Asn542=) n.2531C>T n.404C>T c.1818C>T (p.Asn606=) n.2326C>T c.1359C>T (p.Asn453=) c.*1284C>T (n.*1284C>T) c.*1605C>T (n.*1605C>T) n.3132C>T c.1365C>T (p.Asn455=) c.1608C>T (p.Asn536=) c.*688C>T (n.*688C>T) c.1371C>T (p.Asn457=) c.1632C>T (p.Asn544=) c.1731C>T (p.Asn577=) n.805C>T c.1515C>T (n.1515C>T) n.3917C>T n.1160C>T n.184C>T c.*533C>T (n.*533C>T) c.1614C>T (p.Asn538=) c.1737C>T (p.Asn579=) c.1470C>T (p.Asn490=) c.1464C>T (p.Asn488=) c.1347C>T (p.Asn449=) c.1725C>T (p.Asn575=) c.1458C>T (p.Asn486=) c.666C>T (p.Asn222=) n.1886C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.38417331G>C | CA370732085 | FGFR1 | c.1638C>G (p.Asn546Lys) c.1626C>G (p.Asn542Lys) n.2531C>G n.404C>G c.1818C>G (p.Asn606Lys) n.2326C>G c.1359C>G (p.Asn453Lys) c.*1284C>G (n.*1284C>G) c.*1605C>G (n.*1605C>G) n.3132C>G c.1365C>G (p.Asn455Lys) c.1608C>G (p.Asn536Lys) c.*688C>G (n.*688C>G) c.1371C>G (p.Asn457Lys) c.1632C>G (p.Asn544Lys) c.1731C>G (p.Asn577Lys) n.805C>G c.1515C>G (n.1515C>G) n.3917C>G n.1160C>G n.184C>G c.*533C>G (n.*533C>G) c.1614C>G (p.Asn538Lys) c.1737C>G (p.Asn579Lys) c.1470C>G (p.Asn490Lys) c.1464C>G (p.Asn488Lys) c.1347C>G (p.Asn449Lys) c.1725C>G (p.Asn575Lys) c.1458C>G (p.Asn486Lys) c.666C>G (p.Asn222Lys) n.1886C>G | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |