| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21304500T>A | CA384120429 | SLCO1A2 | c.516A>T (p.Glu172Asp) c.120A>T (p.Glu40Asp) n.807A>T n.544A>T c.*95A>T (n.*95A>T) c.456A>T (p.Glu152Asp) c.510A>T (p.Glu170Asp) c.48A>T (p.Glu16Asp) c.255A>T (p.Glu85Asp) c.216A>T (p.Glu72Asp) n.622A>T n.515A>T | dbSNP |
| 12 | g.21304500T>G | CA6477695 | SLCO1A2 | c.516A>C (p.Glu172Asp) c.120A>C (p.Glu40Asp) n.807A>C n.544A>C c.*95A>C (n.*95A>C) c.456A>C (p.Glu152Asp) c.510A>C (p.Glu170Asp) c.48A>C (p.Glu16Asp) c.255A>C (p.Glu85Asp) c.216A>C (p.Glu72Asp) n.622A>C n.515A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21304500T= | CA2021050473 | SLCO1A2 | c.516A= (p.Glu172=) c.120A= (p.Glu40=) n.807A= n.544A= c.*95A= (n.*95A=) c.456A= (p.Glu152=) c.510A= (p.Glu170=) c.48A= (p.Glu16=) c.255A= (p.Glu85=) c.216A= (p.Glu72=) n.622A= n.515A= | dbSNP |