Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_019108.4
p.R234Splc
c.701+4A>G
NM_019108.4
p.P174delFs
c.520_521delGG
NM_019108.4
p.P174fs
c.520_521fs
NM_019108.4
p.V184A
c.551T>C
NM_019108.4
p.Y197fs
c.589_590fs
NM_019108.4
p.Q393*
c.1177C>T
NM_019108.4
p.Y147F
c.440A>T
NM_019108.4
p.W503S
c.1508G>C
NM_019108.4
p.N251D
c.751A>G
NM_019108.4
p.H316R
c.947A>G
NM_019108.4
p.M390R
c.1169T>G
NM_019108.4
p.N412S
c.1235A>G