Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_020982.4
p.C25W
c.75C>G
NM_020982.4
p.F35L
c.103T>C
NM_020982.4
p.F35L
c.105C>A
NM_020982.4
p.F35L
c.105C>G
NM_020982.4
p.D76H
c.226G>C
NM_020982.4
p.Q78*
c.232C>T
NM_020982.4
p.I124ins0
c.370_372dupATC
NM_020982.4
p.G167insFs
c.500dupG
NM_020982.4
p.W168fs
c.502_503fs
NM_020982.4
p.S3L
c.8C>T
NM_020982.4
p.G10V
c.29G>T
NM_020982.4
p.T12delFs
c.35_36delCC