| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.94640308A>G | CA3014637 | PDLIM5 | c.1141A>G (p.Thr381Ala) n.1034A>G c.166A>G (p.Thr56Ala) c.832A>G (p.Thr278Ala) c.369A>G c.1228A>G (p.Thr410Ala) c.814A>G (p.Thr272Ala) c.*869A>G (n.*869A>G) c.775A>G (p.Thr259Ala) c.1555A>G (p.Thr519Ala) c.1537A>G (p.Thr513Ala) c.1210A>G (p.Thr404Ala) c.1570A>G (p.Thr524Ala) c.1243A>G (p.Thr415Ala) c.1174A>G (p.Thr392Ala) c.1168A>G (p.Thr390Ala) c.1153A>G (p.Thr385Ala) c.1159A>G (p.Thr387Ala) c.847A>G (p.Thr283Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.94640308A= | CA1477729125 | PDLIM5 | c.1141A= (p.Thr381=) n.1034A= c.166A= (p.Thr56=) c.832A= (p.Thr278=) c.369A= c.1228A= (p.Thr410=) c.814A= (p.Thr272=) c.*869A= (n.*869A=) c.775A= (p.Thr259=) c.1555A= (p.Thr519=) c.1537A= (p.Thr513=) c.1210A= (p.Thr404=) c.1570A= (p.Thr524=) c.1243A= (p.Thr415=) c.1174A= (p.Thr392=) c.1168A= (p.Thr390=) c.1153A= (p.Thr385=) c.1159A= (p.Thr387=) c.847A= (p.Thr283=) | dbSNP |