Table 1

Thirty-three TCOF1 changes detected by SSCP in 60 patients

PatientLocationDNA mutationConsequenceCentre
References are for previously reported mutations.
G1568Exon 2c.149A>G (Y50C)MissenseJHUSM
TC286Intron 3c.305-1 G>ASpliceJHUSM
G1775Exon 7c.720-727delAGCACCCCFrameshiftJHUSM
G1481Exon 7c.786delAFrameshiftJHUSM
TCS30Exon 8c.1015 G>T (E339X)NonsenseCEGH
G1589Exon 9c.1098delCFrameshiftJHUSM
TCS33Exon 9c.1215-1216insAFrameshiftCEGH
G1608Exon 10c.1408-1409delAG4FrameshiftJHUSM
TC410Exon 12c.1872-1875delTGAGFrameshiftJHUSM
TCS40Exon 13c.2026C>T (Q676X)NonsenseCEGH
TCS42Exon 13c.1926-1927insGFrameshiftCEGH
G1448Exon 15c.2375-2376delGGFrameshiftJHUSM
TC546Intron 16c.2629-1G>CSpliceJHUSM
TCS32Intron 17c.2815+1delGSpliceCEGH
TC603Exon 18c.2846delCFrameshiftJHUSM
G1942Exon 18c.2881delGFrameshiftJHUSM
TCS41Exon 20c.3084delAFrameshiftCEGH
G1282Exon 23c.3639delGFrameshiftJHUSM
TC213Exon 23c.3779-3780insCFrameshiftJHUSM
TCS35Exon 23c.3830delCFrameshiftCEGH
TC450Exon 23c.3899delTFrameshiftJHUSM
TC512Exon 23c.3933-3934insGFrameshiftJHUSM
TC521Exon 23c.3975-3979delGAAAGFrameshiftJHUSM
TC601Exon 23c.3987-3988insG6FrameshiftJHUSM
G1455Exon 23c.3987-3988insG6FrameshiftJHUSM
TC376Exon 23c.4019-4032delCAGAAGAGGAGCTTFrameshiftJHUSM
G1685Exon 24c.4124-4125delAAFrameshiftJHUSM
G1482Exon 24c.4134delAFrameshiftCEGH
TCS36Exon 24c.4130-4134delAAAAA5FrameshiftCEGH
TCS39Exon 24c.4135-4136insG; c.4156-4157delAAFrameshiftCEGH
TCS34Exon 24c.4135-4139delGAAAA5,6FrameshiftCEGH
TC389Exon 24c.4135-4139delGAAAA5,6FrameshiftJHUSM
G1352Exon 24c.4135-4139delGAAAA5,6FrameshiftJHUSM
G1428Exon 22c.3389T>A (M1130K)MissenseJHUSM
?Pathogenic