Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_014157.4
p.K100N
c.300A>C
NM_014157.4
p.K100N
c.300A>T
NM_014157.4
p.P62S
c.184C>T
NM_014157.4
p.Q76_F77Splc
c.228+1143A>G
NM_014157.4
p.R78Q
c.233G>A
NM_014157.4
p.R81G
c.241C>G
NM_014157.4
p.S85S
c.255C>T
NM_014157.4
p.R86Q
c.257G>A
NM_014157.4
p.M89L
c.265A>C
NM_014157.4
p.M89L
c.265A>T
NM_001142302.2
p.Q76_A77Splc
c.228+1182T>A
NM_014157.4
p.M89K
c.266T>A