| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80214264C>T | CA8817942 | CARD14,SGSH | n.2845-1602C>T c.571G>A (p.Gly191Arg) c.606G>A (p.Thr202=) n.440G>A n.438G>A c.173G>A c.465G>A (p.Thr155=) c.430G>A n.580G>A c.310G>A (p.Gly104Arg) c.314G>A (p.Arg105Gln) n.591G>A n.552G>A n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80214264C= | CA2277864116 | CARD14,SGSH | n.2845-1602C= c.571G= (p.Gly191=) c.606G= (p.Thr202=) n.440G= n.438G= c.173G= c.465G= (p.Thr155=) c.430G= n.580G= c.310G= (p.Gly104=) c.314G= (p.Arg105=) n.591G= n.552G= n.485G= | dbSNP |