Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_004140.4
p.R411C
c.1231C>T
NM_004140.4
p.D373D
c.1119C>T
NM_004140.4
p.L559F
c.1675C>T
NM_004140.4
p.G70S
c.208G>A
NM_004140.4
p.L93insFs
c.277dupC
NM_004140.4
p.R124insFs
c.372dupG
NM_004140.4
p.A152delFs
c.455delC
NM_004140.4
p.Q375R
c.1124A>G
NM_004140.4
p.I432I
c.1296C>T
NM_004140.4
p.G504_C505delFs
c.1510_1513del4
NM_004140.4
p.L660L
c.1978C>T
NM_004140.4
p.L719S
c.2156T>C