Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_001127211.3
p.A231T
c.691G>A
NM_001127211.3
p.R483H
c.1448G>A
NM_001127211.3
p.P536insFs
c.1607dupC
NM_001127211.3
p.E6fs
c.16_17fs
NM_001127211.3
p.Q11*
c.31C>T
NM_001127211.3
p.Q11H
c.33G>T
NM_001127211.3
p.K33*
c.97A>T
NM_001127211.3
p.K37_C38Splc
c.112-2A>T
NM_001127211.3
p.I41N
c.122T>A
NM_001127211.3
p.I58Splc
c.173-3132C>T
NM_001127211.3
p.H60R
c.179A>G
NM_001127211.3
p.I75M
c.225A>G