Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_002104.3
p.L135F
c.403C>T
NM_002104.3
p.G48R
c.142G>A
NM_002104.3
p.G48R
c.142G>C
NM_002104.3
p.V51F
c.151G>T
NM_002104.3
p.H67P
c.200A>C
NM_002104.3
p.Q69fs
c.205_206fs
NM_002104.3
p.R71delFs
c.213delG
NM_002104.3
p.F72fs
c.214_215fs
NM_002104.3
p.P78A
c.232C>G
NM_002104.3
p.K94R
c.281A>G
NM_002104.3
p.P112L
c.335C>T
NM_002104.3
p.D160N
c.478G>A