Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_152349.3
p.G114R
c.340G>C
NM_152349.3
p.T164T
c.492C>T
NM_152349.3
p.R11K
c.32G>A
NM_152349.3
p.K16N
c.48G>T
NM_152349.3
p.K16N
c.48G>C
NM_152349.3
p.K39*
c.115A>T
NM_152349.3
p.M41fs
c.121_122fs
NM_152349.3
p.L48S
c.143T>C
NM_152349.3
p.A50T
c.148G>A
NM_152349.3
p.R59*
c.175C>T
NM_152349.3
p.E80Q
c.238G>C
NM_152349.3
p.L108I
c.322C>A