Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_004538.6
p.S50_T51del1
c.149_151delTGC
NM_004538.6
p.S65T
c.194G>C
NM_004538.6
p.D122N
c.364G>A
NM_004538.6
p.P224A
c.670C>G
NM_004538.6
p.P266R
c.797C>G
NM_004538.6
p.K309R
c.926A>G
NM_004538.6
p.K502R
c.1505A>G
NM_004538.6
p.V17delFs
c.50_51delAA
NM_004538.6
p.T51ins1
c.151_152insGCA
NM_004538.6
p.S50_T51del2
c.148_152del6
NM_004538.6
p.G57S
c.169G>A
NM_004538.6
p.G59S
c.175G>A