Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31815978T>A | CA449805604 | HSPA1A,HSPA1L | c.222T>A (p.Ile74=) c.75+147T>A (n.75+147T>A) c.-13-3993A>T (n.-13-3993A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31815978T>G | CA363404889 | HSPA1A,HSPA1L | c.222T>G (p.Ile74Met) c.75+147T>G (n.75+147T>G) c.-13-3993A>C (n.-13-3993A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31815978T>C | CA3724247 | HSPA1A,HSPA1L | c.222T>C (p.Ile74=) c.75+147T>C (n.75+147T>C) c.-13-3993A>G (n.-13-3993A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |