Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.156344574G>A | CA340750 | SGCD | c.89G>A (p.Trp30Ter) c.86G>A (p.Trp29Ter) n.254+2879C>T | ClinVar dbSNP |
5 | g.156344574G>T | CA3530485 | SGCD | c.89G>T (p.Trp30Leu) c.86G>T (p.Trp29Leu) n.254+2879C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156344574G>C | CA362007672 | SGCD | c.89G>C (p.Trp30Ser) c.86G>C (p.Trp29Ser) n.254+2879C>G | ClinVar dbSNP |