Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_014686.5
p.Q1039_P1043del0
c.3116_3127del12
NM_014686.5
p.S9N
c.26G>A
NM_014686.5
p.K25M
c.74A>T
NM_014686.5
p.A43S
c.127G>T
NM_014686.5
p.A74T
c.220G>A
NM_014686.5
p.V124V
c.372C>A
NM_014686.5
p.A140V
c.419C>T
NM_014686.5
p.M144K
c.431T>A
NM_014686.5
p.G168W
c.502G>T
NM_014686.5
p.A185A
c.555G>A
NM_014686.5
p.A233D
c.698C>A
NM_014686.5
p.F258delFs
c.772_773delTT