Papers
RefSeq ID
Protein change
DNA change
1–12 of 166 variants
NM_004454.3
p.H179P
c.536A>C
NM_004454.3
p.P84S
c.250C>T
NM_004454.3
p.A177P
c.529G>C
NM_004454.3
p.F508del1
c.1522_1523delAAA
NM_004454.3
p.R18*
c.52C>T
NM_004454.3
p.R25Q
c.74G>A
NM_004454.3
p.L46R
c.137T>G
NM_004454.3
p.R195Q
c.584G>A
NM_004454.3
p.E487K
c.1459G>A
NM_004454.3
p.S100P
c.298T>C
NM_004454.3
p.Y112C
c.335A>G
NM_004454.3
p.D124H
c.370G>C