Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_213607.3
p.H154P
c.461A>C
NM_213607.3
p.G128fs
c.382_383fs
NM_213607.3
p.R35P
c.104G>C
NM_213607.3
p.G128insFs
c.383_384insG
NM_213607.3
p.A11P
c.31G>C
NM_213607.3
p.R48Splc
c.144-1G>T
NM_213607.3
p.R61Q
c.182G>A
NM_213607.3
p.R111*
c.331C>T
NM_213607.3
p.P129fs
c.385_386fs
NM_213607.3
p.S190insFs
c.568_569dupAG
NM_213607.3
p.M1insFs
c.2dupT
NM_213607.3
p.E2K
c.4G>A