Papers
RefSeq ID
Protein change
DNA change
1–12 of 183 variants
NM_004473.4
p.A65V
c.194C>T
NM_004473.4
p.S57N
c.170G>A
NM_004473.4
p.A169_A170del2
c.505_509del6
NM_004473.4
p.A248G
c.743C>G
NM_004473.4
p.R102C
c.304C>T
NM_004473.4
p.R73S
c.217C>A
NM_004473.4
p.S57delFs
c.169_170delAG
NM_004473.4
p.L129L
c.387T>C
NM_004473.4
p.R72S
c.214C>A
NM_004473.4
p.A67T
c.199G>A
NM_004473.4
p.A69T
c.205G>A
NM_004473.4
p.L112F
c.334C>T