| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.102875652G>C | CA152768 | BIVM-ERCC5,ERCC5 | n.4411G>C n.3959G>C n.4947G>C n.3540G>C c.3985G>C (p.Asp1329His) c.4672G>C (p.Asp1558His) c.*3071G>C (n.*3071G>C) n.3437G>C n.3678G>C n.2794G>C c.*482G>C (n.*482G>C) c.3310G>C (p.Asp1104His) c.2806G>C (p.Asp936His) c.1009G>C (p.Asp337His) n.470G>C c.3307G>C (p.Asp1103His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.102875652G= | CA2018008113 | BIVM-ERCC5,ERCC5 | n.4411G= n.3959G= n.4947G= n.3540G= c.3985G= (p.Asp1329=) c.4672G= (p.Asp1558=) c.*3071G= (n.*3071G=) n.3437G= n.3678G= n.2794G= c.*482G= (n.*482G=) c.3310G= (p.Asp1104=) c.2806G= (p.Asp936=) c.1009G= (p.Asp337=) n.470G= c.3307G= (p.Asp1103=) | dbSNP |