Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 TPMT P51580 p.Arg215His rs56161402 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]
2h11
B
Detail
0.15 (T)
0 (N)
D ( Predicted by rules : 1 )
3 TPMT P51580 p.Arg215Leu rs56161402 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY [MIM:187680#0006]
2h11
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 TPMT P51580 p.Arg215Pro rs56161402 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY [MIM:187680#0006]
2h11
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 3 )