Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_012280.4
p.A26P
c.76G>C
NM_012280.4
p.D219N
c.655G>A
NM_012280.4
p.E191Splc
c.571+1G>A
NM_012280.4
p.G64Splc
c.192-2A>G
NM_012280.4
p.Q66*
c.196C>T
NM_012280.4
p.P83L
c.248C>T
NM_012280.4
p.L124F
c.370C>T
NM_012280.4
p.M1insFs
c.2dupT
NM_012280.4
p.M1K
c.2T>A
NM_012280.4
p.Y12S
c.35A>C
NM_012280.4
p.R14H
c.41G>A
NM_012280.4
p.W21fs
c.61_62fs