Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_020792.6
p.M1K
c.2T>A
NM_020792.6
p.A16T
c.46G>A
NM_020792.6
p.L23del1
c.67_68delCAG
NM_020792.6
p.D29N
c.85G>A
NM_020792.6
p.D37N
c.109G>A
NM_020792.6
p.G42D
c.125G>A
NM_020792.6
p.Y52C
c.155A>G
NM_020792.6
p.V90A
c.269T>C
NM_020792.6
p.G114A
c.341G>C
NM_020792.6
p.G115E
c.344G>A
NM_020792.6
p.K123Splc
c.368-52G>T
NM_020792.6
p.Q158R
c.473A>G