Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_003549.4
p.H113Y
c.337C>T
NM_003549.4
p.R178H
c.533G>A
NM_003549.4
p.T3M
c.8C>T
NM_003549.4
p.L11R
c.32T>G
NM_003549.4
p.P24T
c.70C>A
NM_003549.4
p.E43K
c.127G>A
NM_003549.4
p.Q63H
c.189G>T
NM_003549.4
p.Q63H
c.189G>C
NM_003549.4
p.G79G
c.237C>T
NM_003549.4
p.K75_P82ins2
c.225_245dup21
NM_003549.4
p.S115T
c.344G>C
NM_003549.4
p.A121P
c.361G>C