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Table 1 Reference information for 16 genes (165 amplicons, representing 374 different sequence variants) included in the study

From: Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

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
  1. * PCR primers and conditions available on request