Papers
RefSeq ID
Protein change
DNA change
1–12 of 166 variants
NM_001352754.2
p.I180V
c.538A>G
NM_001352754.2
p.I180K
c.539T>A
NM_001352754.2
p.E17_Y18Splc
c.51+5G>T
NM_001352754.2
p.T293T
c.879G>A
NM_001352754.2
p.R343C
c.1027C>T
NM_001352754.2
p.R343S
c.1027C>A
NM_001352754.2
p.G492R
c.1474G>A
NM_001352754.2
p.G492R
c.1474G>C
NM_001352754.2
p.G492Splc
c.1474+1G>C
NM_001352754.2
p.P520L
c.1559C>T
NM_001352754.2
p.G69R
c.205G>A
NM_001352754.2
p.G69R
c.205G>C