Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_013338.5
p.R79W
c.235C>T
NM_013338.5
p.R208H
c.623G>A
NM_013338.5
p.V107I
c.319G>A
NM_013338.5
p.R212C
c.634C>T
NM_013338.5
p.A2A
c.6T>C
NM_013338.5
p.L4F
c.10C>T
NM_013338.5
p.L11V
c.31C>G
NM_013338.5
p.V10_L11delins
c.30_31delinsTG
NM_013338.5
p.L22V
c.64C>G
NM_013338.5
p.L22_I23Splc
c.66+4A>C
NM_013338.5
p.L22_I23Splc
c.67-751T>C
NM_013338.5
p.L80Splc
c.239-28T>C