Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_005686.3
p.R377H
c.1130G>A
NM_005686.3
p.S171L
c.512C>T
NM_005686.3
p.V319A
c.956T>C
NM_005686.3
p.R321fs
c.961_962fs
NM_005686.3
p.S385*
c.1154C>A
NM_005686.3
p.S385*
c.1154C>G
NM_005686.3
p.S5R
c.13A>C
NM_005686.3
p.S5R
c.15C>A
NM_005686.3
p.S5R
c.15C>G
NM_005686.3
p.Q10fs
c.28_29fs
NM_005686.3
p.L11M
c.31C>A
NM_005686.3
p.C33C
c.99C>T