Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_001278688.3
p.P259A
c.775C>G
NM_001278688.3
p.P585H
c.1754C>A
NM_001278688.3
p.L20del1
c.58_59delCTT
NM_001278688.3
p.T247M
c.740C>T
NM_001278688.3
p.T255T
c.765A>G
NM_001278688.3
p.P406_P408del0
c.1218_1223del6
NM_001278688.3
p.L20P
c.59T>C
NM_001278688.3
p.A27V
c.80C>T
NM_001278688.3
p.G46V
c.137G>T
NM_001278688.3
p.R63H
c.188G>A
NM_001278688.3
p.D76D
c.228C>T
NM_001278688.3
p.K83K
c.249G>A