Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_017994.5
p.T187P
c.559A>C
NM_017994.5
p.M1T
c.2T>C
NM_017994.5
p.I25I
c.75C>T
NM_017994.5
p.S28_M30del0
c.83_88del6
NM_017994.5
p.I43M
c.129C>G
NM_017994.5
p.L78F
c.232C>T
NM_017994.5
p.T83_T88del6
c.247_263del18
NM_017994.5
p.P85L
c.254C>T
NM_017994.5
p.S97F
c.290C>T
NM_017994.5
p.P109L
c.326C>T
NM_017994.5
p.I156V
c.466A>G
NM_017994.5
p.A190A
c.570C>A