| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116927317C>T | CA088879 | RFX6 | c.2176C>T (p.Arg726Ter) c.2068C>T (p.Arg690Ter) c.1798C>T (p.Arg600Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116927317C>G | CA3973490 | RFX6 | c.2176C>G (p.Arg726Gly) c.2068C>G (p.Arg690Gly) c.1798C>G (p.Arg600Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116927317C= | CA1657451970 | RFX6 | c.2176C= (p.Arg726=) c.2068C= (p.Arg690=) c.1798C= (p.Arg600=) | dbSNP |