Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_002007.4
p.A29V
c.86C>T
NM_002007.4
p.P175S
c.523C>T
NM_002007.4
p.R112H
c.335G>A
NM_002007.4
p.G5R
c.13G>C
NM_002007.4
p.A24T
c.70G>A
NM_002007.4
p.S114Splc
c.340+205T>C
NM_002007.4
p.R192Q
c.575G>A
NM_002007.4
p.M1T
c.2T>C
NM_002007.4
p.M1I
c.3G>C
NM_002007.4
p.A7T
c.19G>A
NM_002007.4
p.A8delins
c.22_23delinsAA
NM_002007.4
p.A18T
c.52G>A