Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337421_47337422insTT | CA16613382 | MYBPC3 | c.2572_2573insAA (p.Ser858LysfsTer22) c.*77_*78insAA (n.*77_*78insAA) c.2554_2555insAA (p.Ser852LysfsTer22) c.2491_2492insAA (p.Ser831LysfsTer22) | ClinVar dbSNP |
11 | g.47337421T= | CA1969339689 | MYBPC3 | c.2572A= (p.Ser858=) c.*77A= (n.*77A=) c.2554A= (p.Ser852=) c.2491A= (p.Ser831=) | dbSNP dbSNP |