Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_017982.4
p.Q37*
c.109C>T
NM_017982.4
p.Q126E
c.376C>G
NM_017982.4
p.R236Q
c.707G>A
NM_017982.4
p.E15ins1
c.43_44insAGC
NM_017982.4
p.E15Q
c.43G>C
NM_017982.4
p.Q21_Q22del1
c.63_65delTGC
NM_017982.4
p.Q22del1
c.64_65delTTG
NM_017982.4
p.R28T
c.83G>C
NM_017982.4
p.G43_P44insAGC
c.127_131ins9
NM_017982.4
p.G50Splc
c.148+25998C>G
NM_017982.4
p.Q55P
c.164A>C
NM_017982.4
p.P63_N65del3
c.187_194del9