| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16013299G>A | CA117645 | PROM1 | c.1117C>T (p.Arg373Cys) c.*800C>T (n.*800C>T) c.1090C>T (p.Arg364Cys) c.1175C>T c.883C>T (p.Arg295Cys) c.910C>T (p.Arg304Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16013299G= | CA1440919755 | PROM1 | c.1117C= (p.Arg373=) c.*800C= (n.*800C=) c.1090C= (p.Arg364=) c.1175C= c.883C= (p.Arg295=) c.910C= (p.Arg304=) c.844C= (p.Arg282=) | dbSNP |
| 4 | g.16013299G>C | CA356437340 | PROM1 | c.1117C>G (p.Arg373Gly) c.*800C>G (n.*800C>G) c.1090C>G (p.Arg364Gly) c.1175C>G c.883C>G (p.Arg295Gly) c.910C>G (p.Arg304Gly) c.844C>G (p.Arg282Gly) | dbSNP |