Table 1.
Concordance between Sanger and WES coding variants in individual genes
| Genes | Sanger | WES |
|---|---|---|
| GAA | 35 | 9 |
| DYSF | 13 | 13 |
| POMT2, GALC | 10 | 10 |
| ZFYVE26 | 9 | 9 |
| FKTN, POMT1, TTN | 8 | 8 |
| DES | 7 | 7 |
| KCNA1, SLC12A6 | 6 | 6 |
| COX10, KIAA1840, SGCG, CHAT, CACNA1A | 5 | 5 |
| RAPSN | 5 | 4 |
| CAPN3, SGCD, TCAP | 4 | 4 |
| CLN10, DOK7 | 3 | 3 |
| MUSK | 3 | 1 |
| FKRP, LMNA, CC2D2A, CLN2, EIF2B5, FAM134B, KCNC3, POMGnT1, MYH7 | 2 | 2 |
| APTX, ARL13B, CHRND, CHRNE, CLN1, CLN5, COL6A2, EIF2B4, EPM2A, NPHP1, PLEKHG4, SACS, SCO2, SETX, SPG7, SYNE1, TRPV4 | 1 | 1 |
| COLQ | 1 | 0 |
| TMEM67 | 1 | 0 |
| Total | 208 | 177 |
Sanger indicates the number of variants identified by clinical Sanger sequencing, and WES indicates the number of variants confirmed by whole‐exome sequencing.