Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_001277285.4
p.Q147fs
c.439_440fs
NM_001277285.4
p.R625Q
c.1874G>A
NM_001277285.4
p.V859L
c.2575G>T
NM_001277285.4
p.V859L
c.2575G>C
NM_001277285.4
p.A1115V
c.3344C>T
NM_001277285.4
p.R1182W
c.3544C>T
NM_001277285.4
p.R1225C
c.3673C>T
NM_001277285.4
p.Q1303*
c.3907C>T
NM_001277285.4
p.V5M
c.13G>A
NM_001277285.4
p.I9R
c.26T>G
NM_001277285.4
p.R16insFs
c.46_47insC
NM_001277285.4
p.L18P
c.53T>C