| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1885635G>C | CA4600217 | ARHGEF10 | c.1110G>C (p.Leu370Phe) c.1638G>C c.*1064G>C (n.*1064G>C) c.378G>C (p.Leu126Phe) c.1185G>C (p.Leu395Phe) c.996G>C (p.Leu332Phe) n.806G>C c.129G>C (p.Leu43Phe) n.834G>C c.1113G>C (p.Leu371Phe) c.993G>C (p.Leu331Phe) c.1068G>C (p.Leu356Phe) c.1197G>C (p.Leu399Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1885635G>T | CA369957669 | ARHGEF10 | c.1110G>T (p.Leu370Phe) c.1638G>T c.*1064G>T (n.*1064G>T) c.378G>T (p.Leu126Phe) c.1185G>T (p.Leu395Phe) c.996G>T (p.Leu332Phe) n.806G>T c.129G>T (p.Leu43Phe) n.834G>T c.1113G>T (p.Leu371Phe) c.993G>T (p.Leu331Phe) c.1068G>T (p.Leu356Phe) c.1197G>T (p.Leu399Phe) | dbSNP gnomAD v3 gnomAD v4 |