Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_001080826.3
p.S313R
c.937A>C
NM_001080826.3
p.S313R
c.939C>G
NM_001080826.3
p.S313R
c.939C>A
NM_001080826.3
p.G350_S351ins2
c.1050_1051ins6
NM_001080826.3
p.P1168_P1170del0
c.3504_3509del6
NM_001080826.3
p.N103T
c.308A>C
NM_001080826.3
p.S243L
c.728C>T
NM_001080826.3
p.S351ins2
c.1051_1052ins6
NM_001080826.3
p.S351_G352del0
c.1051_1056del6
NM_001080826.3
p.Q623Q
c.1869G>A
NM_001080826.3
p.C1051_A1056del6
c.3151_3167del18
NM_001080826.3
p.M1insFs
c.1dupA