Papers
RefSeq ID
Protein change
DNA change
1–12 of 513 variants
NM_000246.4
p.G500A
c.1499G>C
NM_000246.4
p.L469P
c.1406T>C
NM_000246.4
p.T636M
c.1907C>T
NM_000246.4
p.M1I
c.3G>A
NM_000246.4
p.L45V
c.133C>G
NM_000246.4
p.F962S
c.2885T>C
NM_000246.4
p.A691D
c.2072C>A
NM_000246.4
p.C812*
c.2436C>A
NM_000246.4
p.S1115N
c.3344G>A
NM_000246.4
p.N310delFs
c.929delA
NM_000246.4
p.R409W
c.1225C>T
NM_000246.4
p.L538L
c.1614C>G