Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001146340.3
p.W4*
c.11G>A
NM_001146340.3
p.W4*
c.12G>A
NM_001146340.3
p.H16Q
c.48C>G
NM_001146340.3
p.H16Q
c.48C>A
NM_001146340.3
p.K17E
c.49A>G
NM_001146340.3
p.R33L
c.98G>T
NM_001146340.3
p.P83P
c.249C>G
NM_001146340.3
p.P98L
c.293C>T
NM_001146340.3
p.R109C
c.325C>T
NM_001146340.3
p.A126A
c.378G>A
NM_001146340.3
p.V139L
c.415G>C
NM_001146340.3
p.R152G
c.454A>G