Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_001161417.2
p.D77N
c.229G>A
NM_001161417.2
p.A132V
c.395C>T
NM_001161417.2
p.A151delFs
c.451delG
NM_001161417.2
p.R263H
c.788G>A
NM_005291.3
p.W6*
c.17G>A
NM_005291.3
p.W6*
c.18G>A
NM_001161417.2
p.G3A
c.8G>C
NM_001161417.2
p.G3G
c.9C>A
NM_001161417.2
p.E5Q
c.13G>C
NM_001161417.2
p.P8A
c.22C>G
NM_001161417.2
p.A20P
c.58G>C
NM_001161417.2
p.E21A
c.62A>C