Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_004854.5
p.I148I
c.444T>C
NM_004854.5
p.R233W
c.697C>T
NM_004854.5
p.G245G
c.735C>T
NM_004854.5
p.C11W
c.33C>G
NM_004854.5
p.V20L
c.58G>T
NM_004854.5
p.V20L
c.58G>C
NM_004854.5
p.D31D
c.93C>T
NM_004854.5
p.V34A
c.101T>C
NM_004854.5
p.L63L
c.187C>T
NM_004854.5
p.K64_P65Splc
c.192+1G>T
NM_004854.5
p.L79R
c.236T>G
NM_004854.5
p.L87L
c.261C>G