Papers
RefSeq ID
Protein change
DNA change
NM_001257268.2
p.K8delFs
c.24delT
NM_001257268.2
p.R32W
c.94C>T
NM_001257268.2
p.E33E
c.99A>G
NM_001257268.2
p.L44I
c.130T>A
NM_001257268.2
p.V54M
c.160G>A
NM_001257268.2
p.T57I
c.170C>T
NM_001257268.2
p.R102*
c.304C>T
NM_001257268.2
p.I166R
c.497T>G