| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15596177C>T | CA92534310 | CC2D2A | c.4443C>T (p.Ser1481=) c.4407C>T (p.Ser1469=) c.4260C>T (p.Ser1420=) n.306C>T c.544-1230C>T (n.544-1230C>T) c.4201C>T (p.Pro1401Ser) c.*1904C>T (n.*1904C>T) c.4083C>T (p.Ser1361=) n.5066C>T c.3905C>T c.2676C>T c.54-1230C>T c.4213C>T (n.4213C>T) c.4425C>T (p.Ser1475=) c.4278C>T (p.Ser1426=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.15596177C>G | CA150882 | CC2D2A | c.4443C>G (p.Ser1481Arg) c.4407C>G (p.Ser1469Arg) c.4260C>G (p.Ser1420Arg) n.306C>G c.544-1230C>G (n.544-1230C>G) c.4201C>G (p.Pro1401Ala) c.*1904C>G (n.*1904C>G) c.4083C>G (p.Ser1361Arg) n.5066C>G c.3905C>G c.2676C>G c.54-1230C>G c.4213C>G (n.4213C>G) c.4425C>G (p.Ser1475Arg) c.4278C>G (p.Ser1426Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15596177C>A | CA92534312 | CC2D2A | c.4443C>A (p.Ser1481Arg) c.4407C>A (p.Ser1469Arg) c.4260C>A (p.Ser1420Arg) n.306C>A c.544-1230C>A (n.544-1230C>A) c.4201C>A (p.Pro1401Thr) c.*1904C>A (n.*1904C>A) c.4083C>A (p.Ser1361Arg) n.5066C>A c.3905C>A c.2676C>A c.54-1230C>A c.4213C>A (n.4213C>A) c.4425C>A (p.Ser1475Arg) c.4278C>A (p.Ser1426Arg) | dbSNP gnomAD v3 gnomAD v4 |