Papers
RefSeq ID
Protein change
DNA change
1–12 of 330 variants
NM_003172.4
p.S282delFs
c.845_846delAG
NM_003172.4
p.R230*
c.688C>T
NM_003172.4
p.P104_A107Fs
c.312_321delinsATFs
NM_003172.4
p.D202H
c.604G>C
NM_003172.4
p.R264_V265delFs
c.792_793delCT
NM_003172.4
p.R192W
c.574C>T
NM_003172.4
p.G124R
c.370G>A
NM_003172.4
p.S282fs
c.844_845fs
NM_003172.4
p.K291insFs
c.871_872insT
NM_003172.4
p.Q251*
c.751C>T
NM_003172.4
p.Q80_V81Splc
c.240+1G>T
NM_003172.4
p.Y274D
c.820T>G