Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_213622.4
p.T313I
c.938C>T
NM_213622.4
p.R38C
c.112C>T
NM_213622.4
p.F100Y
c.299T>A
NM_213622.4
p.E373Splc
c.1119-6T>G
NM_213622.4
p.Y63C
c.188A>G
NM_213622.4
p.R178*
c.532C>T
NM_213622.4
p.H335_T336Splc
c.1005+358A>G
NM_213622.4
p.D348A
c.1043A>C
NM_213622.4
p.R424*
c.1270C>T
NM_213622.4
p.R14P
c.41G>C
NM_213622.4
p.E42G
c.125A>G
NM_213622.4
p.K93_K94Splc
c.279+5G>T