| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1347814C>T | CA7806792 | BAIAP3 | c.2200C>T c.*212C>T (n.*212C>T) n.3282C>T n.3637C>T n.1799C>T c.3018C>T (p.Asp1006=) c.*1201C>T (n.*1201C>T) c.2955C>T (p.Asp985=) c.1677C>T (p.Asp559=) c.1614C>T (p.Asp538=) c.*1059C>T (n.*1059C>T) c.336C>T (p.Asp112=) n.3360C>T c.3123C>T (p.Asp1041=) c.3069C>T (p.Asp1023=) c.2910C>T (p.Asp970=) c.2949C>T (p.Asp983=) c.627-1552C>T n.504C>T c.2934C>T (p.Asp978=) c.3174C>T (p.Asp1058=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1347814C= | CA2201587357 | BAIAP3 | c.2200C= c.*212C= (n.*212C=) n.3282C= n.3637C= n.1799C= c.3018C= (p.Asp1006=) c.*1201C= (n.*1201C=) c.2955C= (p.Asp985=) c.1677C= (p.Asp559=) c.1614C= (p.Asp538=) c.*1059C= (n.*1059C=) c.336C= (p.Asp112=) n.3360C= c.3123C= (p.Asp1041=) c.3069C= (p.Asp1023=) c.2910C= (p.Asp970=) c.2949C= (p.Asp983=) c.627-1552C= n.504C= c.2934C= (p.Asp978=) c.3174C= (p.Asp1058=) | dbSNP |