Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_207346.3
p.A307S
c.919G>T
NM_207346.3
p.S93P
c.277T>C
NM_207346.3
p.Q246*
c.736C>T
NM_207346.3
p.Q156_V157Splc
c.468+2T>C
NM_207346.3
p.Q343*
c.1027C>T
NM_207346.3
p.K347*
c.1039A>T
NM_207346.3
p.E85V
c.254A>T
NM_207346.3
p.A95A
c.285G>C
NM_207346.3
p.Y119D
c.355T>G
NM_207346.3
p.K347N
c.1041G>C
NM_207346.3
p.K347N
c.1041G>T
NM_207346.3
p.V372M
c.1114G>A