Table 1.
67 cases with different mutations diagnosed by MLPA or Sanger sequencing
| Exon ID | Nucleotide change | Protein change | Mutation | |
|---|---|---|---|---|
| 1 | EX25 | c.3408_3409delinsGT | p.Gln1137* | Small insertions |
| 2 | EX3 | c.160_162delCTC | p.Leu54del | Small deletions |
| 3 | EX44 | c.6337delA | p.Ile2113* | Small deletions |
| 4 | EX21 | c.2674delA | p.Ile892Phefs*4 | Small deletions |
| 5 | EX53 | c.7693C>T | p.Gln2565* | nonsense |
| 6 | EX6 | c.434G>C | p.Arg145Pro | missense |
| 7 | EX69 | c.10011C>G | p.Cys3337Trp | missense |
| 8 | EX66 | c.9568C>T | p.Arg3190 | nonsense |
| 9 | E27 | c.3765dupT | p.Gly1256Trpfs*15 | Small insertions |
| 10 | E28 | c.3909dupT | p.Glu1304* | Small insertions |
| 11 | int2 | c.94-1G>T | Splice donor variant | |
| 12 | E59 | c.8821_8822insAGGCCACTTCAAG | p.Asp2944Glyfs*6 | Small insertions |
| 13 | E68 | c.9816dupT | p.Lys3273* | Small insertions |
| 14 | int3 | c.187-10_187-6delTTGTT | Splice region variant | |
| 15 | E20 | c.2591delC | p.Ser800Argfs*9 | Small deletions |
| 16 | E22 | c.2808dupT | p.Asp937* | Small insertions |
| 17 | EX14 | c.1632-15_1639dup52 | p.Thr547Ilefs*16 | Small insertions |
| 18 | E21 | c.2673_2674delAAinsG | p.Ile892Phefs*4 | Small insertions |
| 19 | E74 | c.10453_10454delCT | p.Leu3485Glufs*5 | Small deletions |
| 20 | int54 | c.8218-2A>G | Splice donor variant | |
| 21 | E20 | c.2430_2443delCCGGTGGATCGAAT | p.Arg811Leufs*6 | Small deletions |
| 22 | E48 | c.6986delA | p.Lys2329Serfs*9 | Small deletions |
| 23 | E26 | c.3454_3479del26 | p.Leu1152Lysfs*17 | Small deletions |
| 24 | E48 | c.6923_6933del11 | p.Ala2308Glufs*6 | Small deletions |
| 25 | E74 | c.10454delT | p.Leu3485Argfs*11 | Small deletions |
| 26 | E24 | c.3257dupA | p.Gln1087Alafs*11 | Small insertions |
| 27 | E74 | c.10453dupC | p.Leu3485Prpfs*6 | Small insertions |
| 28 | E38 | c.5413dupG | p.Val1805Glyfs*10 | Small insertions |
| 29 | E15 | c.1732A>T | p.Lys578* | nonsense |
| 30a | E20 | c.2612A>C | p.Lys871Thr | Missense variant |
| 31 | EX45 | del | ||
| 32 | EX45-47 | del | ||
| 33 | EX45-48 | del | ||
| 34 | EX45-50 | del | ||
| 35 | EX45-52 | del | ||
| 36 | EX45-55 | del | ||
| 37 | EX48-50 | del | ||
| 38 | EX48-52 | del | ||
| 39 | EX49-50 | del | ||
| 40 | EX51 | del | ||
| 41 | EX45-53 | del | ||
| 42 | EX45-54 | del | ||
| 43 | EX48 | del | ||
| 44 | EX50-52 | del | ||
| 45 | EX2-17 | del | ||
| 46 | EX5-47 | del | ||
| 47 | EX8-28 | del | ||
| 48 | EX2 | dup | ||
| 49 | EX2-7 | dup | ||
| 50 | EX3-7 | dup | ||
| 51 | EX3-13 | dup | ||
| 52 | EX8,9 | dup | ||
| 53 | EX8-11 | dup | ||
| 54 | EX8-17 | dup | ||
| 55 | EX17-19 | dup | ||
| 56 | EX49-50 | dup | ||
| 57 | EX50-55 | dup | ||
| 58 | EX3-9 | dup | ||
| 59 | EX3-30 | dup | ||
| 60 | EX8-41 | dup | ||
| 61 | EX18-48 | dup | ||
| 62 | EX28-55 | dup | ||
| 63 | EX56-67 | dup | ||
| 64 | EX8-29 | dup | ||
| 65 | EX34-44 | dup | ||
| 66 | EX2-6, EX10-18 | dup | ||
| 67 | EX45-53, EX56-60 | dup |
Abbreviations: del, deletion; dup, duplication; MLPA, multiplex ligation-dependent probe amplification.
aP30 has this variant; however, he was diagnosed as having FSHD after its publication.