Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_014334.4
p.G51A
c.152G>C
NM_014334.4
p.V146insFs
c.436dupG
NM_014334.4
p.S246_P247del1
c.737_739delGTG
NM_014334.4
p.G195del1
c.583_584delTCC
NM_014334.4
p.M1L
c.1A>T
NM_014334.4
p.M1L
c.1A>C
NM_014334.4
p.L18V
c.52C>G
NM_014334.4
p.A25S
c.73G>T
NM_014334.4
p.G38insFs
c.113dupG
NM_014334.4
p.G64D
c.191G>A
NM_014334.4
p.G80Splc
c.238+6518A>G
NM_014334.4
p.P82delFs
c.245_246delGG