Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_004756.5
p.P394_V396del0
c.1182_1187del6
NM_004756.5
p.P394_V396del3
c.1180_1187del9
NM_004756.5
p.T132del1
c.394_396delGGT
NM_004756.5
p.R94W
c.280C>T
NM_004756.5
p.A21_E30del0
c.62_88del27
NM_004756.5
p.A39E
c.116C>A
NM_004756.5
p.Q47*
c.139C>T
NM_004756.5
p.M109T
c.326T>C
NM_004756.5
p.W119S
c.356G>C
NM_004756.5
p.R126*
c.376C>T
NM_004756.5
p.D130N
c.388G>A
NM_004756.5
p.D130E
c.390C>G