Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_031292.5
p.R527C
c.1579C>T
NM_031292.5
p.K264E
c.790A>G
NM_031292.5
p.R507C
c.1519C>T
NM_031292.5
p.T665M
c.1994C>T
NM_031292.5
p.E2A
c.5A>C
NM_031292.5
p.D4_T5insFs
c.12_13ins7
NM_031292.5
p.T5fs
c.13_14fs
NM_031292.5
p.S12_S13ins7
c.34_38ins21
NM_031292.5
p.H20H
c.60C>T
NM_031292.5
p.K28Q
c.82A>C
NM_031292.5
p.S29I
c.86G>T
NM_031292.5
p.I50V
c.148A>G