Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.44107972T>G | CA215090 | EXT2 | c.260T>G (p.Met87Arg) n.419T>G c.-544+12120T>G (n.-544+12120T>G) n.434T>G n.677T>G n.2821T>G c.359T>G (p.Met120Arg) c.398T>G (p.Met133Arg) c.299T>G (p.Met100Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107972T>A | CA380179960 | EXT2 | c.260T>A (p.Met87Lys) n.419T>A c.-544+12120T>A (n.-544+12120T>A) n.434T>A n.677T>A n.2821T>A c.359T>A (p.Met120Lys) c.398T>A (p.Met133Lys) c.299T>A (p.Met100Lys) | dbSNP |