Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_004388.3
p.V274I
c.820G>A
NM_004388.3
p.L31_R34del0
c.92_100del9
NM_004388.3
p.R10L
c.29G>T
NM_004388.3
p.L11_V12delFs
c.31_34del4
NM_004388.3
p.L31delFs
c.92delA
NM_004388.3
p.L31_R34del4
c.91_101del12
NM_004388.3
p.P4P
c.12G>C
NM_004388.3
p.R8_W9delFs
c.22_25del4
NM_004388.3
p.R10delins
c.29_30delinsTT
NM_004388.3
p.A23V
c.68C>T
NM_004388.3
p.A23G
c.68C>G
NM_004388.3
p.L22_L25del0
c.66_74del9