Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_052924.3
p.M1I
c.3G>C
NM_052924.3
p.R6insFs
c.16_17ins11
NM_052924.3
p.C30W
c.90C>G
NM_052924.3
p.T52M
c.155C>T
NM_052924.3
p.S79insFs
c.236_237insTG
NM_052924.3
p.E90*
c.268G>T
NM_052924.3
p.R99W
c.295C>T
NM_052924.3
p.S102R
c.304A>C
NM_052924.3
p.S102R
c.306C>A
NM_052924.3
p.S102R
c.306C>G
NM_052924.3
p.S102Splc
c.306-319C>T
NM_052924.3
p.S102Splc
c.306-225C>T