Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_012193.4
p.C45R
c.133T>C
Surrounding Variants
NM_012193.4
p.C45S
c.133T>A
NM_012193.4
p.C45S
c.134G>C
NM_012193.4
p.C45Y
c.134G>A
NM_012193.4
p.R44C
c.130C>T
NM_012193.4
p.R43Q
c.128G>A
NM_012193.4
p.P47S
c.139C>T
NM_012193.4
p.E42*
c.124G>T
NM_012193.4
p.I48fs
c.142_143fs
NM_012193.4
p.P47insFs
c.141dupC
NM_012193.4
p.I48insFs
c.142dupA
NM_012193.4
p.E40del1
c.118_119delCTC
NM_012193.4
p.R49_I50ins10
c.145_149ins30