Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_004332.4
p.K126_A127Splc
c.378+2T>C
NM_004332.4
p.A164T
c.490G>A
NM_004332.4
p.N283S
c.848A>G
NM_004332.4
p.G9D
c.26G>A
NM_004332.4
p.R14P
c.41G>C
NM_004332.4
p.G36G
c.108C>T
NM_004332.4
p.G48G
c.144C>T
NM_004332.4
p.V49I
c.145G>A
NM_004332.4
p.Q55L
c.164A>T
NM_004332.4
p.G71Splc
c.212-2A>G
NM_004332.4
p.N85H
c.253A>C
NM_004332.4
p.W94R
c.280T>A