Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_012245.3
p.M1insFs
c.2_3insT
NM_012245.3
p.L3insFs
c.7dupC
NM_012245.3
p.S5T
c.14G>C
NM_012245.3
p.A9T
c.25G>A
NM_012245.3
p.A9A
c.27A>C
NM_012245.3
p.Q12*
c.34C>T
NM_012245.3
p.Q31*
c.91C>T
NM_012245.3
p.Q31H
c.93G>C
NM_012245.3
p.G45R
c.133G>C
NM_012245.3
p.G45R
c.133G>A
NM_012245.3
p.R47G
c.139C>G
NM_012245.3
p.P52H
c.155C>A