| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.78109309A>G | CA130456 | CIB2 | c.272T>C (p.Phe91Ser) c.288T>C (n.288T>C) c.143T>C (p.Phe48Ser) c.254T>C (n.254T>C) c.125T>C (p.Phe42Ser) c.160T>C (p.Leu54=) c.287T>C (p.Phe96Ser) n.480T>C n.1160T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.78109309A= | CA2189347413 | CIB2 | c.272T= (p.Phe91=) c.288T= (n.288T=) c.143T= (p.Phe48=) c.254T= (n.254T=) c.125T= (p.Phe42=) c.160T= (p.Leu54=) c.287T= (p.Phe96=) n.480T= n.1160T= | dbSNP |