Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_003325.4
p.K27M
c.80A>T
NM_003325.4
p.K14R
c.41A>G
NM_003325.4
p.G34W
c.100G>T
NM_003325.4
p.G34R
c.100G>C
NM_003325.4
p.G34R
c.100G>A
NM_003325.4
p.K27R
c.80A>G
NM_003325.4
p.T101Splc
c.302+1G>C
NM_003325.4
p.T314_C315delFs
c.942_943delAT
NM_003325.4
p.L681M
c.2041C>A
NM_003325.4
p.D800A
c.2399A>C
NM_003325.4
p.Q866*
c.2596C>T
NM_003325.4
p.C959R
c.2875T>C