Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_177402.5
p.P308L
c.923C>T
NM_177402.5
p.D307A
c.920A>C
NM_177402.5
p.I371K
c.1112T>A
NM_177402.5
p.R397delFs
c.1191delC
NM_177402.5
p.Q155_L156Splc
c.465+1G>A
NM_177402.5
p.V160I
c.478G>A
NM_177402.5
p.V243fs
c.727_728fs
NM_177402.5
p.S306L
c.917C>T
NM_177402.5
p.D361_G366del0
c.1082_1096del15
NM_177402.5
p.R397fs
c.1189_1190fs
NM_177402.5
p.S39S
c.117C>T
NM_177402.5
p.M111fs
c.331_332fs