Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_016530.3
p.A76V
c.227C>T
NM_016530.3
p.G80R
c.238G>A
NM_016530.3
p.G80R
c.238G>C
NM_016530.3
p.K133*
c.397A>T
NM_016530.3
p.D16N
c.46G>A
NM_016530.3
p.T22N
c.65C>A
NM_016530.3
p.G42Splc
c.125-140A>G
NM_016530.3
p.E51_L52delins
c.153_154delinsAT
NM_016530.3
p.K56delins
c.167_168delinsAA
NM_016530.3
p.D63N
c.187G>A
NM_016530.3
p.D63H
c.187G>C
NM_016530.3
p.Q67L
c.200A>T