Papers
RefSeq ID
Protein change
DNA change
1–12 of 324 variants
NM_003369.4
p.L514F
c.1540C>T
NM_003369.4
p.T533P
c.1597A>C
NM_003369.4
p.E639*
c.1915G>T
NM_003369.4
p.S237delFs
c.709delA
NM_003369.4
p.V33G
c.98T>G
NM_003369.4
p.G343D
c.1028G>A
NM_003369.4
p.P581delFs
c.1742delC
NM_003369.4
p.A5P
c.13G>C
NM_003369.4
p.P10H
c.29C>A
NM_003369.4
p.Q39_R40Splc
c.117+1G>C
NM_003369.4
p.Q39_R40Splc
c.118-2A>G
NM_003369.4
p.L42del1
c.124_126delCTT