Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_006116.3
p.S7R
c.19A>C
NM_006116.3
p.S7R
c.21C>A
NM_006116.3
p.S7R
c.21C>G
NM_006116.3
p.E137_G138Splc
c.412-1G>C
NM_006116.3
p.P146L
c.437C>T
NM_006116.3
p.L152P
c.455T>C
NM_006116.3
p.R187H
c.560G>A
NM_006116.3
p.E212K
c.634G>A
NM_006116.3
p.Q498R
c.1493A>G
NM_006116.3
p.Q4L
c.11A>T
NM_006116.3
p.P48L
c.143C>T
NM_006116.3
p.N61Y
c.181A>T