Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_021228.3
p.R572_S574del0
c.1716_1721del6
NM_021228.3
p.S191_S192del1
c.572_574delCCT
NM_021228.3
p.R572_S574del3
c.1714_1721del9
NM_021228.3
p.T1181fs
c.3541_3542fs
NM_021228.3
p.P386_D388delFs
c.1156_1162del7
NM_021228.3
p.T420P
c.1258A>C
NM_021228.3
p.A1061T
c.3181G>A
NM_021228.3
p.G1156_S1162del7
c.3466_3485del21
NM_021228.3
p.D17N
c.49G>A
NM_021228.3
p.R18Q
c.53G>A
NM_021228.3
p.D26H
c.76G>C
NM_021228.3
p.Q48R
c.143A>G