Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_153363.3
p.Q275K
c.823C>A
NM_153363.3
p.P98L
c.293C>T
NM_153363.3
p.C245R
c.733T>C
NM_153363.3
p.R279C
c.835C>T
NM_153363.3
p.E378K
c.1132G>A
NM_153363.3
p.D386G
c.1157A>G
NM_153363.3
p.P8T
c.22C>A
NM_153363.3
p.E24K
c.70G>A
NM_153363.3
p.Y41_R42delFs
c.123_124delTA
NM_153363.3
p.V53D
c.158T>A
NM_153363.3
p.R79K
c.236G>A
NM_153363.3
p.Y115F
c.344A>T