Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_001162495.3
p.P68delFs
c.203delG
NM_001162495.3
p.M1V
c.1A>G
NM_001162495.3
p.K25K
c.75A>G
NM_001162495.3
p.R41R
c.123G>A
NM_001162495.3
p.D48E
c.144C>G
NM_001162495.3
p.D48E
c.144C>A
NM_001162495.3
p.R50W
c.148C>T
NM_001162495.3
p.R50Q
c.149G>A
NM_001162495.3
p.D53E
c.159C>G
NM_001162495.3
p.T65S
c.193A>T
NM_001162495.3
p.G91S
c.271G>A
NM_001162495.3
p.D101N
c.301G>A