Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1806164G>A | CA438063262 | FGFR3 | c.1956G>A (p.Lys652=) c.*1006G>A (n.*1006G>A) c.1614G>A (p.Lys538=) c.1938G>A (p.Lys646=) c.1950G>A (p.Lys650=) c.1953G>A (p.Lys651=) c.1962G>A (p.Lys654=) c.1959G>A (p.Lys653=) n.2357G>A n.2376G>A | dbSNP gnomAD v4 |
4 | g.1806164G>C | CA280221 | FGFR3 | c.1956G>C (p.Lys652Asn) c.*1006G>C (n.*1006G>C) c.1614G>C (p.Lys538Asn) c.1938G>C (p.Lys646Asn) c.1950G>C (p.Lys650Asn) c.1953G>C (p.Lys651Asn) c.1962G>C (p.Lys654Asn) c.1959G>C (p.Lys653Asn) n.2357G>C n.2376G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.1806164G>T | CA341419 | FGFR3 | c.1956G>T (p.Lys652Asn) c.*1006G>T (n.*1006G>T) c.1614G>T (p.Lys538Asn) c.1938G>T (p.Lys646Asn) c.1950G>T (p.Lys650Asn) c.1953G>T (p.Lys651Asn) c.1962G>T (p.Lys654Asn) c.1959G>T (p.Lys653Asn) n.2357G>T n.2376G>T | ClinVar dbSNP COSMIC |