Papers
RefSeq ID
Protein change
DNA change
1–12 of 907 variants
NM_000440.3
p.R102S
c.304C>A
NM_000440.3
p.V685M
c.2053G>A
NM_000440.3
p.R653*
c.1957C>T
NM_000440.3
p.Q569K
c.1705C>A
NM_000440.3
p.D670G
c.2009A>G
NM_000440.3
p.R257*
c.769C>T
NM_000440.3
p.R102H
c.305G>A
NM_000440.3
p.P333Splc
c.998+1G>A
NM_000440.3
p.R102C
c.304C>T
NM_000440.3
p.L469_K470Splc
c.1407+1G>C
NM_000440.3
p.R562W
c.1684C>T
NM_000440.3
p.R544W
c.1630C>T