Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_014494.4
p.P115Q
c.344C>A
NM_014494.4
p.Q111_P115del0
c.333_344del12
NM_014494.4
p.N748I
c.2243A>T
NM_014494.4
p.G803delFs
c.2409delG
NM_014494.4
p.I1085V
c.3253A>G
NM_014494.4
p.Q1112H
c.3336A>C
NM_014494.4
p.Q1112H
c.3336A>T
NM_014494.4
p.A177V
c.530C>T
NM_014494.4
p.S660N
c.1979G>A
NM_014494.4
p.P788S
c.2362C>T
NM_014494.4
p.R1183delFs
c.3547delA
NM_014494.4
p.D11N
c.31G>A