Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_017758.4
p.R358Q
c.1073G>A
NM_017758.4
p.R11_K13delFs
c.31_38del8
NM_017758.4
p.E12_L14delFs
c.34_41del8
NM_017758.4
p.R28Q
c.83G>A
NM_017758.4
p.A31_V38del8
c.91_113del24
NM_017758.4
p.A34_A41del8
c.100_122del24
NM_017758.4
p.A35_V38del0
c.105_113del9
NM_017758.4
p.A43_A45del0
c.129_134del6
NM_017758.4
p.A48del1
c.142_143delGCC
NM_017758.4
p.R68P
c.203G>C
NM_017758.4
p.Y71S
c.212A>C
NM_017758.4
p.A105_R113del9
c.313_338del27