Papers
RefSeq ID
Protein change
DNA change
1–12 of 172 variants
NM_002547.3
p.Q62*
c.184C>T
NM_002547.3
p.N52Splc
c.154+2T>C
NM_002547.3
p.Q186*
c.556C>T
NM_002547.3
p.A45T
c.133G>A
NM_002547.3
p.R243W
c.727C>T
NM_002547.3
p.G412D
c.1235G>A
NM_002547.3
p.M461V
c.1381A>G
NM_002547.3
p.K128_E129Splc
c.384+3A>C
NM_002547.3
p.V215fs
c.643_644fs
NM_002547.3
p.V215delFs
c.644_645delCA
NM_002547.3
p.Q233*
c.697C>T
NM_002547.3
p.R497*
c.1489C>T