Table 1.
Reference information for 16 genes (165 amplicons, representing 374 different sequence variants) included in the study
| Gene | OMIM | Reference sequence | Reference | Amplicons, n | Nucleotide variations, n |
| ABCA3 | 610921 | NCBI-NM_001089 | 14 | 15 | 22 |
| ABCA4 | 248200 | NCBI-U88667 | 15 | 51 | 115 |
| 604116 | |||||
| 601718 | |||||
| 153800 | |||||
| CACNA1A | 141500 | ENSG00000141837 | 16 | 26 | 39 |
| 108500 | |||||
| 183086 | |||||
| CFTR | 219700 | ENSG00000001626 | 17 | 13 | 22 |
| 277180 | |||||
| EGR2 | 607678 | ENSG00000122877 | * | 4 | 6 |
| FTH | 134770 | NCBI-NM_002032 | 18 | 5 | 10 |
| FTL | 600886 | NCBI-NM_000146.3 | 19 | 5 | 12 |
| GJB1 | 302800 | ENSG00000169562 | * | 5 | 13 |
| HBB | 604131 | NCBI-NT_009237 | 20 | 2 | 11 |
| IRP2 | 147582 | NCBI-NT_010194 | * | 5 | 16 |
| LAMIN A/C | 181350 | ENSG00000160789 | 21 | 10 | 36 |
| 159001 | |||||
| 605588 | |||||
| 115200 | |||||
| 151660 | |||||
| 248370 | |||||
| 176670 | |||||
| MPZ | 118200 | ENSG00000158887 | * | 5 | 14 |
| PMP22 | 162500 | ENSG00000109099 | * | 4 | 7 |
| 118300 | |||||
| SFTPB | 267450 | NCBI-M24461 | 14 | 4 | 10 |
| 265120 | |||||
| SFTPC | 267450 | NCBI-J03890 | 14 | 3 | 13 |
| 610913 | |||||
| SLC40A1 | 606069 | NM_014585 | 23 | 8 | 28 |
* PCR primers and conditions available on request