Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_002068.4
p.M187I
c.561G>A
NM_002068.4
p.M187I
c.561G>C
NM_002068.4
p.M187I
c.561G>T
NM_002068.4
p.Q350R
c.1049A>G
NM_002068.4
p.G49Splc
c.146-1537C>T
NM_002068.4
p.G69G
c.207C>T
NM_002068.4
p.R75P
c.224G>C
NM_002068.4
p.G77D
c.230G>A
NM_002068.4
p.I86F
c.256A>T
NM_002068.4
p.I94M
c.282C>G
NM_002068.4
p.P107L
c.320C>T
NM_002068.4
p.S118I
c.353G>T