Papers
RefSeq ID
Protein change
DNA change
1–12 of 161 variants
NM_017697.4
p.N512delFs
c.1535delA
NM_017697.4
p.N512fs
c.1534_1535fs
NM_017697.4
p.L259V
c.775C>G
NM_017697.4
p.A18T
c.52G>A
NM_017697.4
p.S79S
c.237G>A
NM_017697.4
p.Q90R
c.269A>G
NM_017697.4
p.E194A
c.581A>C
NM_017697.4
p.D222_R228delFs
c.665_683del19
NM_017697.4
p.D222fs
c.664_665fs
NM_017697.4
p.K287R
c.860A>G
NM_017697.4
p.V328V
c.984C>T
NM_017697.4
p.N512fs
c.1534_1535fs