Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_016205.3
p.Q31H
c.93G>T
NM_016205.3
p.Q31H
c.93G>C
NM_016205.3
p.Q38R
c.113A>G
NM_016205.3
p.P154S
c.460C>T
NM_016205.3
p.C274S
c.820T>A
NM_016205.3
p.C274S
c.821G>C
NM_016205.3
p.G344G
c.1032A>G
NM_016205.3
p.M1K
c.2T>A
NM_016205.3
p.S11Y
c.32C>A
NM_016205.3
p.N25H
c.73A>C
NM_016205.3
p.K36_E37delFs
c.108_111del4
NM_016205.3
p.D43H
c.127G>C