| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985138dup | CA257664 | POR | c.1104dup (p.Ile369HisfsTer6) c.1230dup (p.Ile411HisfsTer6) c.1329dup (p.Ile444HisfsTer6) c.*109-922dup (n.*109-922dup) c.543dup (p.Ile182HisfsTer6) c.1480dup c.*634dup (n.*634dup) n.684dup n.331dup n.703dup c.1383dup (p.Ile462HisfsTer6) c.1248+180dup (n.1248+180dup) c.1320dup (p.Ile441HisfsTer6) c.1374dup (p.Ile459HisfsTer6) c.1239+180dup (n.1239+180dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985138del | CA456331007 | POR | c.1104del (p.Ile369SerfsTer?) c.1230del (p.Ile411SerfsTer?) c.1329del (p.Ile444SerfsTer?) c.*109-922del (n.*109-922del) c.543del (p.Ile182SerfsTer?) c.1480del c.*634del (n.*634del) n.684del n.331del n.703del c.1383del (p.Ile462SerfsTer?) c.1248+180del (n.1248+180del) c.1320del (p.Ile441SerfsTer?) c.1374del (p.Ile459SerfsTer?) c.1239+180del (n.1239+180del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |