| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37125330G>A | CA277713 | CPLANE1 | n.1871C>T c.8872C>T (p.Arg2958Ter) n.733C>T c.8710C>T (p.Arg2904Ter) c.5884C>T (n.5884C>T) n.4053C>T n.342-3546C>T c.5908C>T (p.Arg1970Ter) c.8869C>T (p.Arg2957Ter) c.8761C>T (p.Arg2921Ter) c.8743C>T (p.Arg2915Ter) c.5515C>T (p.Arg1839Ter) c.3445C>T (p.Arg1149Ter) c.8818C>T (p.Arg2940Ter) c.8764C>T (p.Arg2922Ter) c.8554C>T (p.Arg2852Ter) c.8200C>T (p.Arg2734Ter) c.6097C>T (p.Arg2033Ter) n.9047C>T c.8683C>T (p.Arg2895Ter) c.7879C>T (p.Arg2627Ter) c.7684C>T (p.Arg2562Ter) n.9096C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37125330G>T | CA443922028 | CPLANE1 | n.1871C>A c.8872C>A (p.Arg2958=) n.733C>A c.8710C>A (p.Arg2904=) c.5884C>A (n.5884C>A) n.4053C>A n.342-3546C>A c.5908C>A (p.Arg1970=) c.8869C>A (p.Arg2957=) c.8761C>A (p.Arg2921=) c.8743C>A (p.Arg2915=) c.5515C>A (p.Arg1839=) c.3445C>A (p.Arg1149=) c.8818C>A (p.Arg2940=) c.8764C>A (p.Arg2922=) c.8554C>A (p.Arg2852=) c.8200C>A (p.Arg2734=) c.6097C>A (p.Arg2033=) n.9047C>A c.8683C>A (p.Arg2895=) c.7879C>A (p.Arg2627=) c.7684C>A (p.Arg2562=) n.9096C>A | dbSNP |