Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_005566.4
p.A147S
c.439G>T
NM_005566.4
p.K222E
c.664A>G
NM_005566.4
p.Q233*
c.697C>T
NM_005566.4
p.G253_A260delFs
c.759_778del20
NM_005566.4
p.M1T
c.2T>C
NM_005566.4
p.E16*
c.46G>T
NM_005566.4
p.V31A
c.92T>C
NM_005566.4
p.D82N
c.244G>A
NM_005566.4
p.R171P
c.512G>C
NM_005566.4
p.N266T
c.797A>C
NM_005566.4
p.M1Fs
c.3delinsACFs
NM_005566.4
p.T3I
c.8C>T