| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233768333A>G | CA122104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>G (p.Asn397Asp) c.1201A>G (p.Asn401Asp) c.1195A>G (p.Asn399Asp) c.1198A>G (p.Asn400Asp) c.394A>G (p.Asn132Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768333A>C | CA67596366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>C (p.Asn397His) c.1201A>C (p.Asn401His) c.1195A>C (p.Asn399His) c.1198A>C (p.Asn400His) c.394A>C (p.Asn132His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768333A= | CA1335895291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A= (p.Asn397=) c.1201A= (p.Asn401=) c.1195A= (p.Asn399=) c.1198A= (p.Asn400=) c.394A= (p.Asn132=) | dbSNP |