Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_018036.7
p.Q1383E
c.4147C>G
NM_018036.7
p.T1534S
c.4600A>T
NM_018036.7
p.R402H
c.1205G>A
NM_018036.7
p.P526A
c.1576C>G
NM_018036.7
p.T529M
c.1586C>T
NM_018036.7
p.P970S
c.2908C>T
NM_018036.7
p.N1124D
c.3370A>G
NM_018036.7
p.L1989V
c.5965C>G
NM_018036.7
p.W54delFs
c.161delC
NM_018036.7
p.R107C
c.319C>T
NM_018036.7
p.K238I
c.713A>T
NM_018036.7
p.A336delFs
c.1007_1008delAG