Table 2

INI1 mutations in AT/RTs

Patient no.LocationMutationExon(s)CodonPredicted effect
86-18BrainC778T6260Gln→Stop
88-128BrainC472T4158Arg→Stop
91-23BrainHomozygous deletion1Altered or absent expression
93-58BrainHomozygous deletion1–9No protein
93-68BrainC601T5201Arg→Stop
93-94BrainHomozygous deletion1Altered or absent expression
93-133BraindelC9382 or 383Frameshift
94-90BraindelC9382 or 383Frameshift
94-121BrainHomozygous deletion1Altered or absent expression
95-46BrainG618A5206Trp→Stop
95-148BrainHomozygous deletion1Altered or absent expression
96-79BrainHomozygous deletion1Altered or absent expression
97-41BrainHomozygous deletion1–9No protein
97-54BrainHomozygous deletion1Altered or absent expression
97-55Inguinal massHomozygous deletion1–9No protein
97-64Neck massHomozygous deletion1Absent or altered expression
97-78LiverHomozygous deletion1Absent or altered expression
97-101Brain138ins TACC246Frameshift
97-102BrainHomozygous deletion1–9No protein
97-104BrainHomozygous deletion1Absent or altered expression
98-69KidneyHomozygous deletion1Absent or altered expression
98-74Brain, bloodG152A251Trp→Stop
98-126KidneyC727T6243Gln→Stop
96-10-P308Abdominal noduleHomozygous deletion1–9No protein
50340-1Kidney, blood797del 10 bases7266Frameshift
50340-2Kidney797del 10 bases7266Frameshift
50495KidneyC727T6243Gln→Stop
50462-1Kidney, bloodG617A5206Trp→Stop
E411Kidney, bloodC472T4158Arg→Stop