Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_021193.4
p.A140T
c.418G>A
NM_021193.4
p.R186Q
c.557G>A
NM_021193.4
p.R4H
c.11G>A
NM_021193.4
p.S20S
c.60G>T
NM_021193.4
p.S27F
c.80C>T
NM_021193.4
p.N32I
c.95A>T
NM_021193.4
p.Q35_G47del0
c.103_141del39
NM_021193.4
p.A37D
c.110C>A
NM_021193.4
p.I42fs
c.124_125fs
NM_021193.4
p.R46P
c.137G>C
NM_021193.4
p.G47C
c.139G>T
NM_021193.4
p.Q62L
c.185A>T