Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_004684.6
p.A49D
c.146C>A
NM_004684.6
p.H106D
c.316C>G
NM_004684.6
p.I305T
c.914T>C
NM_004684.6
p.F140Y
c.419T>A
NM_004684.6
p.T419A
c.1255A>G
NM_004684.6
p.W647R
c.1939T>C
NM_004684.6
p.W647R
c.1939T>A
NM_004684.6
p.E112K
c.334G>A
NM_004684.6
p.H593Y
c.1777C>T
NM_004684.6
p.K2N
c.6G>T
NM_004684.6
p.K2N
c.6G>C
NM_004684.6
p.L8insFs
c.24dupA