Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17024013C>T | CA16609931 | SDHB | c.431G>A (p.Trp144Ter) c.560G>A (p.Trp187Ter) c.602G>A (p.Trp201Ter) n.536G>A | ClinVar dbSNP gnomAD v2 |
1 | g.17024013C>A | CA338271050 | SDHB | c.431G>T (p.Trp144Leu) c.560G>T (p.Trp187Leu) c.602G>T (p.Trp201Leu) n.536G>T | dbSNP gnomAD v4 |
1 | g.17024013C= | CA1156078638 | SDHB | c.431G= (p.Trp144=) c.560G= (p.Trp187=) c.602G= (p.Trp201=) n.536G= | dbSNP |