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Table 3 Summary of pathogenic mutations identified in rhabdoid tumors

From: Rapid detection of SMARCB1 sequence variation using high resolution melting

Tumor Exon Mutation relative
to ATG codon
Prediction SMARCB
Protein
Site 22qLOH
1877 Exon 2 c118C>T pARG40STOP Absent Abdominal Yes
1918   None   Faint Choroid plexus Yes
1938 Exon 9 c1144delG Frame shift Absent CNS Yes
1993 Exon 3 c325insG Frame shift Absent CNS ND
3022   None   Present Renal Yes
3074   Deletion of gene Absent Absent CNS Yes
3161 Exon 5 c601C>T pARG201STOP Absent CNS No
  Exon 6 c795+2delinsATGA Splice donor site disrupted    
3180 Exon 2 c157C>T pARG53STOP Absent CNS No
  Exon 5 c569-570ins18 Frame shift    
3349   Deletion of gene Absent Absent Liver No
3331 Exon 7 c933_934insAT Frame shift Absent CNS Yes
3388 Exon 9 c1148delC Frame shift Absent CNS ND
3641 Exon 2 c157C>T pARG53STOP Absent CNS ND
3803 Exon 2 c118C>T pARG40STOP Absent CNS ND
  1. ND; Not determined.