Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_145235.5
p.Q4*
c.10C>T
NM_145235.5
p.P3T
c.7C>A
NM_145235.5
p.P12L
c.35C>T
NM_145235.5
p.E52del1
c.154_155delGAA
NM_145235.5
p.R84H
c.251G>A
NM_145235.5
p.K334insFs
c.1000dupA
NM_145235.5
p.P3P
c.9C>T
NM_145235.5
p.K5Splc
c.14-39040A>C
NM_145235.5
p.M7I
c.21G>A
NM_145235.5
p.V17delFs
c.50delT
NM_145235.5
p.T21N
c.62C>A
NM_145235.5
p.R46S
c.138G>C