Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_001146312.3
p.K259R
c.776A>G
NM_001146312.3
p.Q304del1
c.910_911delCAG
NM_001146312.3
p.R168Q
c.503G>A
NM_001146312.3
p.S229fs
c.685_686fs
NM_001146312.3
p.D283N
c.847G>A
NM_001146312.3
p.Q310del1
c.928_929delCAA
NM_001146312.3
p.L316P
c.947T>C
NM_001146312.3
p.I418V
c.1252A>G
NM_001146312.3
p.G445S
c.1333G>A
NM_001146312.3
p.Q647H
c.1941G>C
NM_001146312.3
p.Q647H
c.1941G>T
NM_001146312.3
p.S910_M912del3
c.2728_2735del9