Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001143989.3
p.Q494R
c.1481A>G
NM_001143989.3
p.R290H
c.869G>A
NM_001143989.3
p.S329N
c.986G>A
NM_001143989.3
p.L422R
c.1265T>G
NM_001143989.3
p.H492Q
c.1476C>G
NM_001143989.3
p.H492Q
c.1476C>A
NM_001143989.3
p.C513F
c.1538G>T
NM_001143989.3
p.R515*
c.1543C>T
NM_001143989.3
p.N548K
c.1644C>G
NM_001143989.3
p.N548K
c.1644C>A
NM_001143989.3
p.S593F
c.1778C>T
NM_001143989.3
p.P606P
c.1818G>A