Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_006495.4
p.N198fs
c.592_593fs
NM_006495.4
p.L8S
c.23T>C
NM_006495.4
p.T18K
c.53C>A
NM_006495.4
p.K22K
c.66G>A
NM_006495.4
p.P73H
c.218C>A
NM_006495.4
p.T82I
c.245C>T
NM_006495.4
p.T106N
c.317C>A
NM_006495.4
p.I112T
c.335T>C
NM_006495.4
p.R132H
c.395G>A
NM_006495.4
p.S141insFs
c.421_422insG
NM_006495.4
p.S141*
c.422C>G
NM_006495.4
p.S141*
c.422C>A