Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_006845.4
p.I449L
c.1345A>C
NM_006845.4
p.G495A
c.1484G>C
NM_006845.4
p.E167V
c.500A>T
NM_006845.4
p.S192A
c.574T>G
NM_006845.4
p.A500T
c.1498G>A
NM_006845.4
p.R163R
c.489G>A
NM_006845.4
p.R177R
c.531A>T
NM_006845.4
p.R189Q
c.566G>A
NM_006845.4
p.E403K
c.1207G>A
NM_006845.4
p.K408Q
c.1222A>C
NM_006845.4
p.R420S
c.1258C>A
NM_006845.4
p.I446T
c.1337T>C