Table 1
Thirty-three TCOF1 changes detected by SSCP in 60 patients
| Patient | Location | DNA mutation | Consequence | Centre |
|---|---|---|---|---|
| References are for previously reported mutations. | ||||
| G1568 | Exon 2 | c.149A>G (Y50C) | Missense | JHUSM |
| TC286 | Intron 3 | c.305-1 G>A | Splice | JHUSM |
| G1775 | Exon 7 | c.720-727delAGCACCCC | Frameshift | JHUSM |
| G1481 | Exon 7 | c.786delA | Frameshift | JHUSM |
| TCS30 | Exon 8 | c.1015 G>T (E339X) | Nonsense | CEGH |
| G1589 | Exon 9 | c.1098delC | Frameshift | JHUSM |
| TCS33 | Exon 9 | c.1215-1216insA | Frameshift | CEGH |
| G1608 | Exon 10 | c.1408-1409delAG4 | Frameshift | JHUSM |
| TC410 | Exon 12 | c.1872-1875delTGAG | Frameshift | JHUSM |
| TCS40 | Exon 13 | c.2026C>T (Q676X) | Nonsense | CEGH |
| TCS42 | Exon 13 | c.1926-1927insG | Frameshift | CEGH |
| G1448 | Exon 15 | c.2375-2376delGG | Frameshift | JHUSM |
| TC546 | Intron 16 | c.2629-1G>C | Splice | JHUSM |
| TCS32 | Intron 17 | c.2815+1delG | Splice | CEGH |
| TC603 | Exon 18 | c.2846delC | Frameshift | JHUSM |
| G1942 | Exon 18 | c.2881delG | Frameshift | JHUSM |
| TCS41 | Exon 20 | c.3084delA | Frameshift | CEGH |
| G1282 | Exon 23 | c.3639delG | Frameshift | JHUSM |
| TC213 | Exon 23 | c.3779-3780insC | Frameshift | JHUSM |
| TCS35 | Exon 23 | c.3830delC | Frameshift | CEGH |
| TC450 | Exon 23 | c.3899delT | Frameshift | JHUSM |
| TC512 | Exon 23 | c.3933-3934insG | Frameshift | JHUSM |
| TC521 | Exon 23 | c.3975-3979delGAAAG | Frameshift | JHUSM |
| TC601 | Exon 23 | c.3987-3988insG6 | Frameshift | JHUSM |
| G1455 | Exon 23 | c.3987-3988insG6 | Frameshift | JHUSM |
| TC376 | Exon 23 | c.4019-4032delCAGAAGAGGAGCTT | Frameshift | JHUSM |
| G1685 | Exon 24 | c.4124-4125delAA | Frameshift | JHUSM |
| G1482 | Exon 24 | c.4134delA | Frameshift | CEGH |
| TCS36 | Exon 24 | c.4130-4134delAAAAA5 | Frameshift | CEGH |
| TCS39 | Exon 24 | c.4135-4136insG; c.4156-4157delAA | Frameshift | CEGH |
| TCS34 | Exon 24 | c.4135-4139delGAAAA5,6 | Frameshift | CEGH |
| TC389 | Exon 24 | c.4135-4139delGAAAA5,6 | Frameshift | JHUSM |
| G1352 | Exon 24 | c.4135-4139delGAAAA5,6 | Frameshift | JHUSM |
| G1428 | Exon 22 | c.3389T>A (M1130K) | Missense | JHUSM |
| ?Pathogenic | ||||
