Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_001080438.1
p.L105_T106delFs
c.313_316del4
NM_001080438.1
p.I81fs
c.241_242fs
NM_001080438.1
p.L105fs
c.313_314fs
NM_001080438.1
p.V200M
c.598G>A
NM_001080438.1
p.G247D
c.740G>A
NM_001080438.1
p.L300L
c.898C>T
NM_001080438.1
p.M1T
c.2T>C
NM_001080438.1
p.S49L
c.146C>T
NM_001080438.1
p.R64H
c.191G>A
NM_001080438.1
p.R68del1
c.202_203delCCG
NM_001080438.1
p.V71V
c.213T>A
NM_001080438.1
p.W77fs
c.229_230fs