| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.69165386C>T | CA116052 | UTP4 | c.1693C>T (p.Arg565Trp) c.1348C>T (p.Arg450Trp) c.1735C>T (p.Arg579Trp) c.519+2208C>T (n.519+2208C>T) c.1444C>T (p.Arg482Trp) c.1276C>T (p.Arg426Trp) n.1690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.69165386C>A | CA8132525 | UTP4 | c.1693C>A (p.Arg565=) c.1348C>A (p.Arg450=) c.1735C>A (p.Arg579=) c.519+2208C>A (n.519+2208C>A) c.1444C>A (p.Arg482=) c.1276C>A (p.Arg426=) n.1690C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |