Papers
RefSeq ID
Protein change
DNA change
1–12 of 268 variants
NM_003592.3
p.K720R
c.2159A>G
NM_003592.3
p.E485K
c.1453G>A
NM_003592.3
p.D483N
c.1447G>A
NM_003592.3
p.N677Splc
c.2030+2T>A
NM_003592.3
p.R146C
c.436C>T
NM_003592.3
p.P556L
c.1667C>T
NM_003592.3
p.R25I
c.74G>T
NM_003592.3
p.Y32C
c.95A>G
NM_003592.3
p.Q61L
c.182A>T
NM_003592.3
p.R63*
c.187C>T
NM_003592.3
p.N98I
c.293A>T
NM_003592.3
p.E108A
c.323A>C