Papers
RefSeq ID
Protein change
DNA change
1–12 of 243 variants
NM_018344.6
p.G437R
c.1309G>A
NM_018344.6
p.G437R
c.1309G>C
NM_018344.6
p.G427S
c.1279G>A
NM_018344.6
p.T449R
c.1346C>G
NM_018344.6
p.R363Q
c.1088G>A
NM_018344.6
p.M116R
c.347T>G
NM_018344.6
p.R363W
c.1087C>T
NM_018344.6
p.R386Q
c.1157G>A
NM_018344.6
p.E444*
c.1330G>T
NM_018344.6
p.V239I
c.715G>A
NM_018344.6
p.S158F
c.473C>T
NM_018344.6
p.L100_N101Splc
c.300+1G>A