Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_144643.4
p.R97Splc
c.290+2T>C
NM_144643.4
p.K544R
c.1631A>G
NM_144643.4
p.K79fs
c.235_236fs
NM_144643.4
p.R276H
c.827G>A
NM_144643.4
p.K259_E260Splc
c.778-2A>T
NM_144643.4
p.M1_A2insFs
c.3_4insT
NM_144643.4
p.R13*
c.37C>T
NM_144643.4
p.M406I
c.1218G>A
NM_144643.4
p.M256I
c.768G>T
NM_144643.4
p.M256I
c.768G>C
NM_144643.4
p.M256I
c.768G>A
NM_144643.4
p.S441C
c.1321A>T