Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_145000.5
p.T70R
c.209C>G
NM_145000.5
p.G335E
c.1004G>A
NM_145000.5
p.H11Y
c.31C>T
NM_145000.5
p.R28Q
c.83G>A
NM_145000.5
p.V34_I35insFs
c.100_103dup4
NM_145000.5
p.I35fs
c.103_104fs
NM_145000.5
p.S110insFs
c.328_329ins5
NM_145000.5
p.Q132K
c.394C>A
NM_145000.5
p.A147A
c.441A>G
NM_145000.5
p.K160_I161Splc
c.480+3G>C
NM_145000.5
p.G195Splc
c.585-10A>T
NM_145000.5
p.P248L
c.743C>T