Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001358413.3
p.V45E
c.134T>A
NM_001358413.3
p.G108S
c.322G>A
NM_001358413.3
p.V109M
c.325G>A
NM_001358413.3
p.A152T
c.454G>A
NM_001358413.3
p.P158L
c.473C>T
NM_001358413.3
p.E197D
c.591A>C
NM_001358413.3
p.E197D
c.591A>T
NM_001358413.3
p.L235I
c.703C>A
NM_001358413.3
p.S287N
c.860G>A
NM_001358413.3
p.H374Y
c.1120C>T
NM_001358413.3
p.K428N
c.1284G>C
NM_001358413.3
p.K428N
c.1284G>T