| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.53486808G>A | CA8967630 | DCC | c.3748G>A (p.Ala1250Thr) c.3679G>A (p.Ala1227Thr) c.2653G>A (p.Ala885Thr) c.2713G>A (p.Ala905Thr) c.3688G>A (p.Ala1230Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.53486808G>T | CA402518370 | DCC | c.3748G>T (p.Ala1250Ser) c.3679G>T (p.Ala1227Ser) c.2653G>T (p.Ala885Ser) c.2713G>T (p.Ala905Ser) c.3688G>T (p.Ala1230Ser) | dbSNP gnomAD v4 |
| 18 | g.53486808G= | CA2304180076 | DCC | c.3748G= (p.Ala1250=) c.3679G= (p.Ala1227=) c.2653G= (p.Ala885=) c.2713G= (p.Ala905=) c.3688G= (p.Ala1230=) | dbSNP |