Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_012388.4
p.Q78*
c.232C>T
NM_012388.4
p.C95_H96insFs
c.285_286dupTC
NM_012388.4
p.E50*
c.148G>T
NM_012388.4
p.E107delins
c.319_320delinsAT
NM_012388.4
p.N117insFs
c.351dupT
NM_012388.4
p.I118fs
c.352_353fs
NM_012388.4
p.S67*
c.200C>A
NM_012388.4
p.S67*
c.200C>G
NM_012388.4
p.T75Splc
c.224+1G>A
NM_012388.4
p.H96fs
c.286_287fs
NM_012388.4
p.M1insFs
c.1_2insT
NM_012388.4
p.M1K
c.2T>A