Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
NM_183374.3
p.S282_Q284insFs
c.845_851dup7
NM_183374.3
p.Q284fs
c.850_851fs
NM_183374.3
p.Q119P
c.356A>C
NM_183374.3
p.R245Q
c.734G>A
NM_183374.3
p.A361V
c.1082C>T
NM_183374.3
p.R378H
c.1133G>A
NM_183374.3
p.P50S
c.148C>T
NM_183374.3
p.R160H
c.479G>A
NM_183374.3
p.E204Q
c.610G>C
NM_183374.3
p.K235_G236Splc
c.705+4C>T
NM_183374.3
p.R238Q
c.713G>A
NM_183374.3
p.Q284fs
c.850_851fs