Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233772999G>T | CA1335897347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*440G>T (n.*440G>T) c.2045G>T (n.2045G>T) c.2033G>T (n.2033G>T) c.2179G>T (n.2179G>T) | dbSNP gnomAD v4 |
2 | g.233772999G>C | CA10614888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*440G>C (n.*440G>C) c.2045G>C (n.2045G>C) c.2033G>C (n.2033G>C) c.2179G>C (n.2179G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772999G>A | CA1335897346 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*440G>A (n.*440G>A) c.2045G>A (n.2045G>A) c.2033G>A (n.2033G>A) c.2179G>A (n.2179G>A) | dbSNP gnomAD v4 |