Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_003271.5
p.L92del1
c.274_276delCTG
NM_003271.5
p.A8delFs
c.24delC
NM_003271.5
p.G24del1
c.70_71delGGC
NM_003271.5
p.V30delFs
c.88delG
NM_003271.5
p.V70_C72del3
c.208_215del9
NM_003271.5
p.Q142P
c.425A>C
NM_003271.5
p.C170delFs
c.510delC
NM_003271.5
p.D234delFs
c.702delC
NM_003271.5
p.N17T
c.50A>C
NM_003271.5
p.G31D
c.92G>A
NM_003271.5
p.T43M
c.128C>T
NM_003271.5
p.S46C
c.137C>G