Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
NM_004529.4
p.S190del1
c.568_569delACT
NM_004529.4
p.S159del1
c.475_476delGCT
NM_004529.4
p.E231D
c.693A>T
NM_004529.4
p.E231D
c.693A>C
NM_004529.4
p.L504P
c.1511T>C
NM_004529.4
p.S4S
c.12G>A
NM_004529.4
p.Y102delFs
c.304delA
NM_004529.4
p.T148S
c.442A>T
NM_004529.4
p.T148S
c.443C>G
NM_004529.4
p.S155_S156del1
c.465_467delCTG
NM_004529.4
p.S165S
c.495C>T
NM_004529.4
p.S167S
c.501T>C