Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
NM_000286.3
p.S320F
c.959C>T
NM_000286.3
p.R180*
c.538C>T
NM_000286.3
p.L296_L297delFs
c.888_889delAG
NM_000286.3
p.R34S
c.102A>T
NM_000286.3
p.K42_V43Splc
c.126+1G>T
NM_000286.3
p.Q178_L179del1
c.533_535delGTT
NM_000286.3
p.A244_L245insFs
c.730_733dup4
NM_000286.3
p.R34S
c.102A>C
NM_000286.3
p.Q349_H350del1
c.1047_1049delTGT
NM_000286.3
p.R202*
c.604C>T
NM_000286.3
p.Q209*
c.625C>T
NM_000286.3
p.L296fs
c.886_887fs