Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001031690.3
p.D236N
c.706G>A
NM_001031690.3
p.A241T
c.721G>A
NM_001031690.3
p.Q26L
c.77A>T
NM_001031690.3
p.N28I
c.83A>T
NM_001031690.3
p.G56D
c.167G>A
NM_001031690.3
p.N58_L59Splc
c.174+8C>A
NM_001031690.3
p.A77T
c.229G>A
NM_001031690.3
p.D97E
c.291C>G
NM_001031690.3
p.D97E
c.291C>A
NM_001278297.2
p.A10D
c.29C>A
NM_001031690.3
p.G108fs
c.322_323fs
NM_001031690.3
p.R109W
c.325C>T