Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_000631.5
p.R105Q
c.314G>A
NM_000631.5
p.A81V
c.242C>T
NM_000631.5
p.E71G
c.212A>G
NM_000631.5
p.G312C
c.934G>T
NM_000631.5
p.F39_V40Splc
c.118-1G>A
NM_000631.5
p.M104I
c.312G>C
NM_000631.5
p.M1V
c.1A>G
NM_000631.5
p.A24T
c.70G>A
NM_000631.5
p.R58C
c.172C>T
NM_000631.5
p.Q61L
c.182A>T
NM_000631.5
p.T85N
c.254C>A
NM_000631.5
p.R130W
c.388C>T