Papers
RefSeq ID
Protein change
DNA change
1–12 of 335 variants
NM_005612.5
p.L437*
c.1310T>A
NM_005612.5
p.R817*
c.2449C>T
NM_005612.5
p.Q924_G931insFs
c.2771_2793dup23
NM_005612.5
p.C415S
c.1243T>A
NM_005612.5
p.C415S
c.1244G>C
NM_005612.5
p.P797L
c.2390C>T
NM_005612.5
p.L805delFs
c.2413delC
NM_005612.5
p.L805fs
c.2413_2414fs
NM_005612.5
p.T955_R956delFs
c.2865_2866delAA
NM_005612.5
p.N958fs
c.2872_2873fs
NM_005612.5
p.H322R
c.965A>G
NM_005612.5
p.M753I
c.2259G>A