Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_001366244.2
p.Q71L
c.212A>T
NM_001366244.2
p.L239delFs
c.715_716delAG
NM_004486.6
p.E423fs
c.1267_1268fs
NM_001366244.2
p.Q715_L716del2
c.2143_2147del6
NM_001366244.2
p.S20N
c.59G>A
NM_001366244.2
p.K307K
c.921G>A
NM_004486.6
p.R422_E423delFs
c.1266_1269del4
NM_001366244.2
p.L532insFs
c.1594_1595ins4
NM_001366244.2
p.Q862K
c.2584C>A
NM_001366244.2
p.G921A
c.2762G>C
NM_001366244.2
p.M1I
c.3G>T
NM_001366244.2
p.M1I
c.3G>A