Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_030785.4
p.E709_E714ins2
c.2125_2142dup18
NM_030785.4
p.E701del1
c.2101_2102delCTC
NM_030785.4
p.E714_T715ins6
c.2142_2143ins18
NM_030785.4
p.A277A
c.831G>C
NM_030785.4
p.E702K
c.2104G>A
NM_030785.4
p.E711del1
c.2131_2132delCTC
NM_030785.4
p.G2delFs
c.5delC
NM_030785.4
p.R30W
c.88C>T
NM_030785.4
p.H28_R30del0
c.83_88del6
NM_030785.4
p.E42D
c.126G>C
NM_030785.4
p.R43K
c.128G>A
NM_030785.4
p.D49D
c.147C>T