Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_007010.5
p.D5G
c.14A>G
NM_007010.5
p.E96Splc
c.287-1G>T
NM_007010.5
p.V403M
c.1207G>A
NM_007010.5
p.M1insFs
c.2dupT
NM_007010.5
p.R9Q
c.26G>A
NM_007010.5
p.D17E
c.51C>G
NM_007010.5
p.D17E
c.51C>A
NM_007010.5
p.F21L
c.61T>C
NM_007010.5
p.F21L
c.63C>G
NM_007010.5
p.F21L
c.63C>A
NM_007010.5
p.S62_Q63insFs
c.186_187ins5
NM_007010.5
p.E76*
c.226G>T