Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001192.3
p.R27P
c.80G>C
NM_001192.3
p.Q7*
c.19C>T
NM_001192.3
p.G51G
c.153A>T
NM_001192.3
p.L68_A69insFs
c.204_205insA
NM_001192.3
p.N81S
c.242A>G
NM_001192.3
p.P145S
c.433C>T
NM_001192.3
p.A153T
c.457G>A
NM_001192.3
p.T159T
c.477G>A
NM_001192.3
p.T175T
c.525G>A
NM_001192.3
p.M1_L2insFs
c.3_4insA
NM_001192.3
p.Q3H
c.9G>C
NM_001192.3
p.Q3H
c.9G>T