Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_012352.3
p.G256C
c.766G>T
NM_012352.3
p.V76I
c.226G>A
NM_012352.3
p.N42_I45delFs
c.125_135del11
NM_012352.3
p.S229C
c.686C>G
NM_012352.3
p.N5N
c.15T>C
NM_012352.3
p.L15_G16delFs
c.43_47del5
NM_012352.3
p.L15P
c.44T>C
NM_012352.3
p.Q23*
c.67C>T
NM_012352.3
p.L32fs
c.94_95fs
NM_012352.3
p.N42fs
c.124_125fs
NM_012352.3
p.L43_L47del5
c.127_140del15
NM_012352.3
p.L43fs
c.127_128fs