Papers
RefSeq ID
Protein change
DNA change
1–12 of 192 variants
NM_012213.3
p.A69V
c.206C>T
NM_012213.3
p.P20insFs
c.59dupC
NM_012213.3
p.L161P
c.482T>C
NM_012213.3
p.I212insFs
c.634dupA
NM_012213.3
p.G3D
c.8G>A
NM_012213.3
p.M40T
c.119T>C
NM_012213.3
p.Y131*
c.393C>G
NM_012213.3
p.A159delFs
c.475delG
NM_012213.3
p.S187*
c.560C>G
NM_012213.3
p.Q316_R317Splc
c.949-14A>G
NM_012213.3
p.G66delFs
c.197delG
NM_012213.3
p.S440I
c.1319G>T