Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_018176.4
p.Q452R
c.1355A>G
NM_018176.4
p.L18del1
c.52_53delCAG
NM_018176.4
p.C42R
c.124T>C
NM_018176.4
p.G61S
c.181G>A
NM_018176.4
p.E307K
c.919G>A
NM_018176.4
p.T518S
c.1552A>T
NM_018176.4
p.I24T
c.71T>C
NM_018176.4
p.C42G
c.124T>G
NM_018176.4
p.S52_W54del3
c.154_161del9
NM_018176.4
p.E337K
c.1009G>A
NM_018176.4
p.K347E
c.1039A>G
NM_018176.4
p.R444Q
c.1331G>A