Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31810169C>T | CA3723836 | HSPA1L | c.1804G>A (p.Glu602Lys) c.1996G>A (p.Glu666Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31810169C>A | CA363373694 | HSPA1L | c.1804G>T (p.Glu602Ter) c.1996G>T (p.Glu666Ter) | dbSNP |
6 | g.31810169C= | CA1619315742 | HSPA1L | c.1804G= (p.Glu602=) c.1996G= (p.Glu666=) | dbSNP |
6 | g.31810169C>G | CA363373698 | HSPA1L | c.1804G>C (p.Glu602Gln) c.1996G>C (p.Glu666Gln) | dbSNP gnomAD v4 |