| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45505372G>A | CA16043567 | COL18A1,SLC19A1 | c.3568G>A (p.Gly1190Ser) c.3028G>A (p.Gly1010Ser) c.1069G>A (p.Gly357Ser) c.4273G>A (p.Gly1425Ser) c.498-6760C>T c.15G>A c.1294-6760C>T (n.1294-6760C>T) c.3559G>A (p.Gly1187Ser) c.4264G>A (p.Gly1422Ser) c.3019G>A (p.Gly1007Ser) c.1585-2403C>T (n.1585-2403C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505372G>T | CA410499693 | COL18A1,SLC19A1 | c.3568G>T (p.Gly1190Cys) c.3028G>T (p.Gly1010Cys) c.1069G>T (p.Gly357Cys) c.4273G>T (p.Gly1425Cys) c.498-6760C>A c.15G>T c.1294-6760C>A (n.1294-6760C>A) c.3559G>T (p.Gly1187Cys) c.4264G>T (p.Gly1422Cys) c.3019G>T (p.Gly1007Cys) c.1585-2403C>A (n.1585-2403C>A) | dbSNP |