Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001013403.3
p.I5F
c.13A>T
NM_001013403.3
p.I50insFs
c.148_149insG
NM_001013403.3
p.I50fs
c.148_149fs
NM_001013403.3
p.M81Splc
c.243-10A>G
NM_001013403.3
p.K83N
c.249G>T
NM_001013403.3
p.K83N
c.249G>C
NM_001013403.3
p.S103P
c.307T>C
NM_001013403.3
p.R127S
c.381G>T
NM_001013403.3
p.R127S
c.381G>C
NM_001013403.3
p.R139G
c.415A>G
NM_001013403.3
p.I148_P149insG
c.442_446ins3
NM_001013403.3
p.P149A
c.445C>G