| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.15750191G>T | CA7922455 | MYH11 | c.2005C>A (p.Arg669Ser) c.2026C>A (p.Arg676Ser) c.*188C>A (n.*188C>A) n.2427C>A | dbSNP ExAC gnomAD v2 |
| 16 | g.15750191G>A | CA211699 | MYH11 | c.2005C>T (p.Arg669Cys) c.2026C>T (p.Arg676Cys) c.*188C>T (n.*188C>T) n.2427C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.15750191G>C | CA394868934 | MYH11 | c.2005C>G (p.Arg669Gly) c.2026C>G (p.Arg676Gly) c.*188C>G (n.*188C>G) n.2427C>G | dbSNP |
| 16 | g.15750191G= | CA2209930417 | MYH11 | c.2005C= (p.Arg669=) c.2026C= (p.Arg676=) c.*188C= (n.*188C=) n.2427C= | dbSNP |