Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_152647.3
p.R243Q
c.728G>A
NM_152647.3
p.R431H
c.1292G>A
NM_152647.3
p.P495_S497del0
c.1483_1491del9
NM_152647.3
p.R5*
c.13C>T
NM_152647.3
p.P16L
c.47C>T
NM_152647.3
p.P23S
c.67C>T
NM_152647.3
p.F63C
c.188T>G
NM_152647.3
p.L93F
c.277C>T
NM_152647.3
p.S113delFs
c.338delC
NM_152647.3
p.R120*
c.358C>T
NM_152647.3
p.G122W
c.364G>T
NM_152647.3
p.K133insFs
c.398_399insA