Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_012194.3
p.S711*
c.2132C>A
NM_012194.3
p.A17_R19delFs
c.51_57del7
NM_012194.3
p.A38V
c.113C>T
NM_012194.3
p.S51_R57del7
c.151_170del21
NM_012194.3
p.L67L
c.199C>T
NM_012194.3
p.G80Splc
c.239-42181G>T
NM_012194.3
p.T81R
c.242C>G
NM_012194.3
p.S94*
c.281C>A
NM_012194.3
p.S94*
c.281C>G
NM_012194.3
p.P108P
c.324T>A
NM_012194.3
p.S204L
c.611C>T
NM_012194.3
p.N286I
c.857A>T