Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_173611.4
p.G337G
c.1011T>C
NM_173611.4
p.G417_G419del0
c.1249_1257del9
NM_173611.4
p.M1K
c.2T>A
NM_173611.4
p.G3E
c.8G>A
NM_173611.4
p.D15N
c.43G>A
NM_173611.4
p.I59M
c.177A>G
NM_173611.4
p.G73Splc
c.218-4A>G
NM_173611.4
p.Q139_L140del1
c.417_419delATT
NM_173611.4
p.A204E
c.611C>A
NM_173611.4
p.A213S
c.637G>T
NM_173611.4
p.C216R
c.646T>C
NM_173611.4
p.E217Q
c.649G>C