Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_198185.7
p.P292S
c.874C>T
NM_198185.7
p.T24A
c.70A>G
NM_198185.7
p.N410Y
c.1228A>T
NM_198185.7
p.G413R
c.1237G>C
NM_198185.7
p.G413R
c.1237G>A
NM_198185.7
p.R19Q
c.56G>A
NM_198185.7
p.Q237_G238Splc
c.711+1G>A
NM_198185.7
p.G257D
c.770G>A
NM_198185.7
p.G381E
c.1142G>A
NM_198185.7
p.P389L
c.1166C>T
NM_198185.7
p.I394F
c.1180A>T
NM_198185.7
p.N6K
c.18C>G