Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_012479.4
p.R132C
c.394C>T
NM_012479.4
p.R57C
c.169C>T
NM_012479.4
p.E15A
c.44A>C
NM_012479.4
p.K50Q
c.148A>C
NM_012479.4
p.R57G
c.169C>G
NM_012479.4
p.R57H
c.170G>A
NM_012479.4
p.Y133S
c.398A>C
NM_012479.4
p.N178D
c.532A>G
NM_012479.4
p.D129E
c.387C>G
NM_012479.4
p.D129E
c.387C>A
NM_012479.4
p.L177I
c.529C>A
NM_012479.4
p.R42*
c.124C>T