Papers
RefSeq ID
Protein change
DNA change
1–12 of 138 variants
NM_001330683.2
p.S1038C
c.3113C>G
NM_001330683.2
p.K1705K
c.5115G>A
NM_001330683.2
p.K778delFs
c.2334delA
NM_001330683.2
p.E779fs
c.2335_2336fs
NM_001330683.2
p.K1026K
c.3078G>A
NM_001330683.2
p.D8H
c.22G>C
NM_001330683.2
p.D24H
c.70G>C
NM_001330683.2
p.D25N
c.73G>A
NM_001330683.2
p.A30T
c.88G>A
NM_001330683.2
p.Y44F
c.131A>T
NM_001330683.2
p.E63Splc
c.188-8T>A
NM_001330683.2
p.A84T
c.250G>A