Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_012345.3
p.W14S
c.41G>C
NM_012345.3
p.S372S
c.1116A>G
NM_012345.3
p.S36R
c.106A>C
NM_012345.3
p.S36R
c.108C>G
NM_012345.3
p.S36R
c.108C>A
NM_012345.3
p.N219_M220Splc
c.657+1G>A
NM_012345.3
p.M1insFs
c.1_2insT
NM_012345.3
p.M1R
c.2T>G
NM_012345.3
p.M1T
c.2T>C
NM_012345.3
p.T10fs
c.28_29fs
NM_012345.3
p.G13W
c.37G>T
NM_012345.3
p.L20V
c.58C>G