Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_006671.6
p.Q537R
c.1610A>G
NM_006671.6
p.M64V
c.190A>G
NM_006671.6
p.R160C
c.478C>T
NM_006671.6
p.R41C
c.121C>T
NM_006671.6
p.P53P
c.159T>C
NM_006671.6
p.R87H
c.260G>A
NM_006671.6
p.D137A
c.410A>C
NM_006671.6
p.K162M
c.485A>T
NM_006671.6
p.V2E
c.5T>A
NM_006671.6
p.F50S
c.149T>C
NM_006671.6
p.M64I
c.192G>A
NM_006671.6
p.S72Splc
c.216-3963C>T