Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_004548.3
p.C107S
c.319T>A
NM_004548.3
p.C107S
c.320G>C
NM_004548.3
p.E44Splc
c.131-442G>C
NM_004548.3
p.T69insFs
c.206_207insT
NM_004548.3
p.C107R
c.319T>C
NM_004548.3
p.R43fs
c.127_128fs
NM_004548.3
p.E70*
c.208G>T
NM_004548.3
p.M1V
c.1A>G
NM_004548.3
p.D6N
c.16G>A
NM_004548.3
p.R15H
c.44G>A
NM_004548.3
p.P23S
c.67C>T
NM_004548.3
p.V25_F31delFs
c.75_91del17