| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233772448C>T | CA2180139 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1482C>T (p.Ala494=) c.1494C>T (p.Ala498=) c.1488C>T (p.Ala496=) c.1491C>T (p.Ala497=) c.687C>T (p.Ala229=) c.1628C>T (n.1628C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233772448C= | CA1335897105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1482C= (p.Ala494=) c.1494C= (p.Ala498=) c.1488C= (p.Ala496=) c.1491C= (p.Ala497=) c.687C= (p.Ala229=) c.1628C= (n.1628C=) | dbSNP |
| 2 | g.233772448C>A | CA431863107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1482C>A (p.Ala494=) c.1494C>A (p.Ala498=) c.1488C>A (p.Ala496=) c.1491C>A (p.Ala497=) c.687C>A (p.Ala229=) c.1628C>A (n.1628C>A) | dbSNP gnomAD v4 |