Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_013302.5
p.H23R
c.68A>G
NM_013302.5
p.P75A
c.223C>G
NM_013302.5
p.Q361R
c.1082A>G
NM_013302.5
p.E673K
c.2017G>A
NM_013302.5
p.S78A
c.232T>G
NM_013302.5
p.Q90*
c.268C>T
NM_013302.5
p.W99*
c.296G>A
NM_013302.5
p.W99*
c.297G>A
NM_013302.5
p.A164T
c.490G>A
NM_013302.5
p.K170M
c.509A>T
NM_013302.5
p.E196fs
c.586_587fs
NM_013302.5
p.T348A
c.1042A>G