Papers
RefSeq ID
Protein change
DNA change
1–12 of 184 variants
NM_001077706.3
p.Q743*
c.2227C>T
NM_001077706.3
p.R852Q
c.2555G>A
NM_001077706.3
p.E527K
c.1579G>A
NM_001077706.3
p.A511V
c.1532C>T
NM_001077706.3
p.K676fs
c.2026_2027fs
NM_001077706.3
p.K676delFs
c.2027_2028delAG
NM_001077706.3
p.A722T
c.2164G>A
NM_001077706.3
p.T727I
c.2180C>T
NM_001077706.3
p.R895Q
c.2684G>A
NM_001077706.3
p.T6delins
c.18delinsTTTA
NM_001077706.3
p.H237P
c.710A>C
NM_001077706.3
p.E241V
c.722A>T