Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_017704.3
p.E67insFs
c.200dupA
NM_017704.3
p.S43R
c.127A>C
NM_017704.3
p.S43R
c.129T>A
NM_017704.3
p.S43R
c.129T>G
NM_017704.3
p.V46I
c.136G>A
NM_017704.3
p.D57E
c.171C>A
NM_017704.3
p.D57E
c.171C>G
NM_017704.3
p.E67fs
c.199_200fs
NM_017704.3
p.M70delFs
c.208delA
NM_017704.3
p.M70fs
c.208_209fs
NM_017704.3
p.R86W
c.256C>T
NM_017704.3
p.T99A
c.295A>G