Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_004347.5
p.T106A
c.316A>G
NM_004347.5
p.T68fs
c.202_203fs
NM_004347.5
p.L75R
c.224T>G
NM_004347.5
p.R10fs
c.28_29fs
NM_004347.5
p.A16A
c.48T>A
NM_004347.5
p.T68insFs
c.202dupA
NM_004347.5
p.S118C
c.353C>G
NM_004347.5
p.L334V
c.1000C>G
NM_004347.5
p.M1I
c.3G>A
NM_004347.5
p.R10fs
c.28_29fs
NM_001136112.3
p.R23delFs
c.67delT
NM_004347.5
p.R10delFs
c.28delT