Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_003937.3
p.K412E
c.1234A>G
NM_003937.3
p.T198A
c.592A>G
NM_003937.3
p.F349_Q351delFs
c.1045_1051del7
NM_003937.3
p.Y156*
c.468T>A
NM_003937.3
p.R188Q
c.563G>A
NM_003937.3
p.V57Splc
c.170-1G>T
NM_003937.3
p.V57fs
c.169_170fs
NM_003937.3
p.Y156*
c.468T>G
NM_003937.3
p.R330Q
c.989G>A
NM_003937.3
p.S345R
c.1033A>C
NM_003937.3
p.S345R
c.1035T>A
NM_003937.3
p.S345R
c.1035T>G