Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.48552231G>T | CA8632529 | HOXB3 | c.244C>A (p.Pro82Thr) c.-12-141C>A (n.-12-141C>A) c.25C>A (p.Pro9Thr) c.50-1053C>A (n.50-1053C>A) c.685C>A (p.Pro229Thr) c.556-141C>A (n.556-141C>A) c.620-141C>A (n.620-141C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.48552231G>A | CA400100449 | HOXB3 | c.244C>T (p.Pro82Ser) c.-12-141C>T (n.-12-141C>T) c.25C>T (p.Pro9Ser) c.50-1053C>T (n.50-1053C>T) c.685C>T (p.Pro229Ser) c.556-141C>T (n.556-141C>T) c.620-141C>T (n.620-141C>T) | dbSNP |
17 | g.48552231G>C | CA400100450 | HOXB3 | c.244C>G (p.Pro82Ala) c.-12-141C>G (n.-12-141C>G) c.25C>G (p.Pro9Ala) c.50-1053C>G (n.50-1053C>G) c.685C>G (p.Pro229Ala) c.556-141C>G (n.556-141C>G) c.620-141C>G (n.620-141C>G) | dbSNP |