| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1805761G>C | CA355981665 | FGFR3 | c.1663G>C (p.Val555Leu) c.*713G>C (n.*713G>C) c.1321G>C (p.Val441Leu) c.1645G>C (p.Val549Leu) c.1657G>C (p.Val553Leu) c.1660G>C (p.Val554Leu) n.723G>C c.1669G>C (p.Val557Leu) c.1666G>C (p.Val556Leu) n.2064G>C n.2083G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805761G>T | CA2810535 | FGFR3 | c.1663G>T (p.Val555Leu) c.*713G>T (n.*713G>T) c.1321G>T (p.Val441Leu) c.1645G>T (p.Val549Leu) c.1657G>T (p.Val553Leu) c.1660G>T (p.Val554Leu) n.723G>T c.1669G>T (p.Val557Leu) c.1666G>T (p.Val556Leu) n.2064G>T n.2083G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805761G>A | CA2810534 | FGFR3 | c.1663G>A (p.Val555Met) c.*713G>A (n.*713G>A) c.1321G>A (p.Val441Met) c.1645G>A (p.Val549Met) c.1657G>A (p.Val553Met) c.1660G>A (p.Val554Met) n.723G>A c.1669G>A (p.Val557Met) c.1666G>A (p.Val556Met) n.2064G>A n.2083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |