Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_015954.4
p.D11Splc
c.31+41T>G
NM_015954.4
p.R35C
c.103C>T
NM_015954.4
p.T37T
c.111C>T
NM_015954.4
p.K40R
c.119A>G
NM_015954.4
p.Q43_A44Splc
c.129+2T>G
NM_015954.4
p.G93Splc
c.277+132A>G
NM_015954.4
p.P103L
c.308C>T
NM_015954.4
p.C107fs
c.319_320fs
NM_015954.4
p.P121L
c.362C>T
NM_015954.4
p.T134A
c.400A>G
NM_015954.4
p.E148G
c.443A>G
NM_015954.4
p.D173E
c.519T>A