Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001004311.3
p.A4E
c.11C>A
NM_001004311.3
p.S141T
c.422G>C
NM_001004311.3
p.M1T
c.2T>C
NM_001004311.3
p.R83C
c.247C>T
NM_001004311.3
p.V209I
c.625G>A
NM_001004311.3
p.P5_A12delFs
c.15_36del22
NM_001004311.3
p.D28E
c.84C>G
NM_001004311.3
p.D28E
c.84C>A
NM_001004311.3
p.A41V
c.122C>T
NM_001004311.3
p.V92M
c.274G>A
NM_001004311.3
p.E122fs
c.364_365fs
NM_001004311.3
p.E122delFs
c.364delC