| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45511195G>A | CA127084 | COL18A1,SLC19A1 | c.4318G>A (p.Asp1440Asn) c.3778G>A (p.Asp1260Asn) c.1822G>A (p.Asp608Asn) c.5023G>A (p.Asp1675Asn) c.498-12583C>T c.732G>A n.2104G>A c.1294-12583C>T (n.1294-12583C>T) c.4309G>A (p.Asp1437Asn) c.5014G>A (p.Asp1672Asn) c.3769G>A (p.Asp1257Asn) c.1585-8226C>T (n.1585-8226C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45511195G= | CA2392195906 | COL18A1,SLC19A1 | c.4318G= (p.Asp1440=) c.3778G= (p.Asp1260=) c.1822G= (p.Asp608=) c.5023G= (p.Asp1675=) c.498-12583C= c.732G= n.2104G= c.1294-12583C= (n.1294-12583C=) c.4309G= (p.Asp1437=) c.5014G= (p.Asp1672=) c.3769G= (p.Asp1257=) c.1585-8226C= (n.1585-8226C=) | dbSNP |