Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_148977.3
p.Q68_L72delFs
c.204_214del11
NM_148977.3
p.K190insFs
c.569_570insA
NM_148977.3
p.L377P
c.1130T>C
NM_148977.3
p.P98Splc
c.293-2A>T
NM_148977.3
p.Q232R
c.695A>G
NM_148977.3
p.E324*
c.970G>T
NM_148977.3
p.N387_N388insFs
c.1161_1162insG
NM_148977.3
p.G53R
c.157G>C
NM_148977.3
p.S54delFs
c.161delC
NM_148977.3
p.P98Splc
c.292+5G>C
NM_148977.3
p.V111D
c.332T>A
NM_148977.3
p.L133Q
c.398T>A