| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16018539C>T | CA2866949 | PROM1 | c.786G>A (p.Ala262=) c.*469G>A (n.*469G>A) c.759G>A (p.Ala253=) n.522G>A c.844G>A c.552G>A (p.Ala184=) c.579G>A (p.Ala193=) c.513G>A (p.Ala171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018539C= | CA1440922232 | PROM1 | c.786G= (p.Ala262=) c.*469G= (n.*469G=) c.759G= (p.Ala253=) n.522G= c.844G= c.552G= (p.Ala184=) c.579G= (p.Ala193=) c.513G= (p.Ala171=) | dbSNP |
| 4 | g.16018539C>G | CA438382109 | PROM1 | c.786G>C (p.Ala262=) c.*469G>C (n.*469G>C) c.759G>C (p.Ala253=) n.522G>C c.844G>C c.552G>C (p.Ala184=) c.579G>C (p.Ala193=) c.513G>C (p.Ala171=) | dbSNP |
| 4 | g.16018539C>A | CA438382108 | PROM1 | c.786G>T (p.Ala262=) c.*469G>T (n.*469G>T) c.759G>T (p.Ala253=) n.522G>T c.844G>T c.552G>T (p.Ala184=) c.579G>T (p.Ala193=) c.513G>T (p.Ala171=) | dbSNP gnomAD v4 |