Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_018372.4
p.A438T
c.1312G>A
NM_018372.4
p.S21W
c.62C>G
NM_018372.4
p.T301M
c.902C>T
NM_018372.4
p.S599P
c.1795T>C
NM_018372.4
p.G18G
c.54C>T
NM_018372.4
p.Q30*
c.88C>T
NM_018372.4
p.G36C
c.106G>T
NM_018372.4
p.N41fs
c.121_122fs
NM_018372.4
p.N41insFs
c.122dupA
NM_018372.4
p.L42_Q44delFs
c.125_131del7
NM_018372.4
p.V78I
c.232G>A
NM_018372.4
p.Q83Q
c.249G>A