| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760525_233760526insGTAC | CA207537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6509_856-6508insGTAC (n.856-6509_856-6508insGTAC) c.868-6509_868-6508insGTAC (n.868-6509_868-6508insGTAC) c.862-6509_862-6508insGTAC (n.862-6509_862-6508insGTAC) c.238_239insGTAC (p.Pro80ArgfsTer16) c.61-6509_61-6508insGTAC (n.61-6509_61-6508insGTAC) c.442-6509_442-6508insGTAC (n.442-6509_442-6508insGTAC) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233760525C= | CA1335893929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6509C= (n.856-6509C=) c.868-6509C= (n.868-6509C=) c.862-6509C= (n.862-6509C=) c.238C= (p.Pro80=) c.61-6509C= (n.61-6509C=) c.442-6509C= (n.442-6509C=) | dbSNP dbSNP |