Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_000100.4
p.R68*
c.202C>T
NM_000100.4
p.G4R
c.10G>C
NM_000100.4
p.G4R
c.10G>A
NM_000100.4
p.Q22_V23Splc
c.67-1G>C
NM_000100.4
p.G50E
c.149G>A
NM_000100.4
p.Q71P
c.212A>C
NM_000100.4
p.Q22Q
c.66G>A
NM_000100.4
p.K56_V57Splc
c.169-2A>G
NM_000100.4
p.L73delFs
c.218_219delGA
NM_000100.4
p.P79S
c.235C>T
NM_000100.4
p.K56K
c.168G>A
NM_000100.4
p.M1_P6del0
c.1_18del18