Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_145212.4
p.K44*
c.130A>T
NM_145212.4
p.A130T
c.388G>A
NM_145212.4
p.R33C
c.97C>T
NM_145212.4
p.I4V
c.10A>G
NM_145212.4
p.P12P
c.36C>T
NM_145212.4
p.R40T
c.119G>C
NM_145212.4
p.K44_V45Splc
c.133-4884T>C
NM_145212.4
p.G57S
c.169G>A
NM_145212.4
p.P79S
c.235C>T
NM_145212.4
p.K93_A94Splc
c.279+1G>A
NM_145212.4
p.H115Y
c.343C>T
NM_145212.4
p.E131Q
c.391G>C