Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_153207.5
p.E12_L14del0
c.36_41del6
NM_153207.5
p.P25L
c.74C>T
NM_153207.5
p.P35S
c.103C>T
NM_153207.5
p.P36_E41del6
c.106_122del18
NM_153207.5
p.P36_E41del0
c.108_122del15
NM_153207.5
p.E37_E41del0
c.109_123del15
NM_153207.5
p.E41D
c.123A>C
NM_153207.5
p.E41D
c.123A>T
NM_153207.5
p.E52K
c.154G>A
NM_153207.5
p.G66fs
c.196_197fs
NM_153207.5
p.G66_G67insFs
c.198_199insG
NM_153207.5
p.G70D
c.209G>A