Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_016614.3
p.L142Splc
c.425+1G>A
NM_016614.3
p.E2*
c.4G>T
NM_016614.3
p.R134*
c.400C>T
NM_016614.3
p.S138delins
c.413_414delinsAA
NM_016614.3
p.E152K
c.454G>A
NM_016614.3
p.G217delFs
c.650delC
NM_016614.3
p.D262A
c.785A>C
NM_016614.3
p.N59D
c.175A>G
NM_016614.3
p.E152Q
c.454G>C
NM_016614.3
p.E152A
c.455A>C
NM_016614.3
p.M238fs
c.712_713fs
NM_016614.3
p.M238_N239delFs
c.714_717del4