Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760432C>A | CA351065866 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6602C>A (n.856-6602C>A) c.868-6602C>A (n.868-6602C>A) c.862-6602C>A (n.862-6602C>A) c.145C>A (p.Gln49Lys) c.61-6602C>A (n.61-6602C>A) c.442-6602C>A (n.442-6602C>A) | dbSNP |
2 | g.233760432C>T | CA122074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6602C>T (n.856-6602C>T) c.868-6602C>T (n.868-6602C>T) c.862-6602C>T (n.862-6602C>T) c.145C>T (p.Gln49Ter) c.61-6602C>T (n.61-6602C>T) c.442-6602C>T (n.442-6602C>T) | ClinVar dbSNP |
2 | g.233760432C>G | CA351065868 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6602C>G (n.856-6602C>G) c.868-6602C>G (n.868-6602C>G) c.862-6602C>G (n.862-6602C>G) c.145C>G (p.Gln49Glu) c.61-6602C>G (n.61-6602C>G) c.442-6602C>G (n.442-6602C>G) | dbSNP |