| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37022256C>A | CA443905403 | NIPBL | c.5440C>A (p.Arg1814=) c.1-42322C>A (n.1-42322C>A) c.4696C>A (p.Arg1566=) c.5242C>A (p.Arg1748=) c.5059C>A (p.Arg1687=) c.4780C>A (p.Arg1594=) c.3823C>A (p.Arg1275=) c.3814C>A (p.Arg1272=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022256C>T | CA224028 | NIPBL | c.5440C>T (p.Arg1814Ter) c.1-42322C>T (n.1-42322C>T) c.4696C>T (p.Arg1566Ter) c.5242C>T (p.Arg1748Ter) c.5059C>T (p.Arg1687Ter) c.4780C>T (p.Arg1594Ter) c.3823C>T (p.Arg1275Ter) c.3814C>T (p.Arg1272Ter) | ClinVar dbSNP |