Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_133444.3
p.K160T
c.479A>C
NM_133444.3
p.Q539H
c.1617G>C
NM_133444.3
p.Q539H
c.1617G>T
NM_133444.3
p.R355C
c.1063C>T
NM_133444.3
p.R459Q
c.1376G>A
NM_133444.3
p.H303insFs
c.907_908insT
NM_133444.3
p.H409Q
c.1227C>A
NM_133444.3
p.H409Q
c.1227C>G
NM_133444.3
p.S504_C505delFs
c.1512_1513delAT
NM_133444.3
p.C505fs
c.1513_1514fs
NM_133444.3
p.M624I
c.1872G>A
NM_133444.3
p.M624I
c.1872G>C