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Table 7 Patient samples tested to date and variations found

From: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Plate # Patient # Gene Variation: DNA experimentally determined(protein: theoretically deduced) Exon/Intron CK value Age of Onset DYS -IHC
1 B1101.1 DMD c [2521C>T] (p.Gln841X) 20 2601 Female->10 y/o N/A
1 9 DMD c.8038C>T(p.Arg2680X) 55 11,010 8 N/A
1 174 DMD c.2614_2615insA (p.?) 20 N/A 6 N/A
1 343 DMD c.829C>T(p.Gln277X) 8 32,000 5 N/A
1 383
(BMD) 		DMD c.13208_13209ins
ACCTTATGTGACGCTGG 		3'UTR 3,935 11 N/A
1 B1105.1 DMD no causative variation found   1500 18  
1 B1028.1 DMD no causative variation found   10,000 5 absent
1 1 DMD no causative variation found   N/A N/A N/A
1 B646.1 DMD no causative variation found   450 20's  
2 B646.1 FKRP c [826C>A]+ [826C>A](p.Leu276>Ile) 4 450 20's  
2 B1141.1 CAV3 c [84C>A]+ [=](p.Asp28Glu) 1 2400 37 Normal
2 B1092.1 CAPN3 c [551C>T(+)706G>A] (p.Thr184Met +Ala236Thr) 4,5 289 6 Normal
2 B1102.1 CAPN3 c [550delA(+)1967dupACATTTTCAAGCAG] 4,17 2000 34 faint
2 B1103.1   no causative variation found   9505 1 Normal
2 B112.1   no causative variation found   156 1 Normal
2 B1149.1   no causative variation found   1074 10  
2 B122.1   no causative variation found   593 2 Normal
2 B695.1   no causative variation found   321 2-3 Normal
2 B848.1   no causative variation found     Normal
  1. Far left column lists the plate number used to test the sample, the next column lists patient sample number, the next column lists the gene in which a causative or possibly causative variation was found and the next column lists variations. N/A means data not available. Note that patient samples with no causative variation found on one plate may be repeated on another plate, and that patients have not yet been tested against all three plates.
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