Table 1 Summary of NGS-TILLING findings
Genes | Fragment screened | Exon screened | Total target size | Coding size | Variants tested | Variant confirmed | Deleterious mutations |
|---|---|---|---|---|---|---|---|
lef1 | 1 | 1 | 258 | 163 | 19 | 11 | 0 |
amer1 | 4 | 1 | 1007 | 828 | 3 | 3 | 1 |
atoh1b | 2 | 1 | 510 | 442 | 2 | 1 | 0 |
col4a3 | 3 | 5 | 804 | 417 | 3 | 0 | 0 |
col4a4 | 5 | 6 | 1263 | 746 | 3 | 1 | 1 |
col4a6 | 4 | 4 | 978 | 623 | 1 | 1 | 1 |
cspp1b | 3 | 3 | 713 | 450 | 5 | 3 | 3 |
eml1 | 4 | 4 | 974 | 578 | 2 | 2 | 1 |
Exosc3 | 3 | 3 | 728 | 514 | 2 | 0 | 0 |
flt1 | 4 | 4 | 1004 | 576 | 3 | 3 | 1 |
FUS | 3 | 3 | 809 | 578 | 0 | 0 | 0 |
hif1ab | 5 | 5 | 1305 | 749 | 4 | 1 | 1 |
irf6 | 2 | 2 | 521 | 417 | 9 | 1 | 0 |
kif7 | 7 | 7 | 1846 | 1280 | 3 | 2 | 2 |
lycat | 2 | 2 | 492 | 352 | 1 | 0 | 0 |
map3k12 | 6 | 6 | 1492 | 1019 | 3 | 1 | 1 |
maza | 3 | 3 | 723 | 546 | 0 | 0 | 0 |
mllt4 | 6 | 6 | 1468 | 1097 | 1 | 0 | 0 |
myo10l1 | 2 | 2 | 516 | 335 | 3 | 1 | 1 |
nbeab | 5 | 5 | 1239 | 809 | 7 | 4 | 2 |
oit3 | 4 | 3 | 1018 | 652 | 3 | 1 | 1 |
orc1 | 3 | 3 | 786 | 556 | 3 | 3 | 3 |
pax7a | 1 | 1 | 262 | 222 | 2 | 0 | 0 |
pkd2l1 | 2 | 2 | 538 | 420 | 1 | 1 | 1 |
ppp4ca | 3 | 4 | 781 | 404 | 1 | 1 | 1 |
prickle1a | 3 | 3 | 715 | 447 | 0 | 0 | 0 |
ptk7 | 4 | 4 | 1020 | 767 | 3 | 2 | 1 |
rbfox1l | 2 | 2 | 536 | 417 | 1 | 0 | 0 |
ryk | 3 | 3 | 738 | 415 | 1 | 1 | 2 |
slc25a21 | 4 | 4 | 951 | 319 | 5 | 2 | 2 |
sox19b | 3 | 1 | 771 | 601 | 1 | 1 | 1 |
tnfsf10 | 3 | 3 | 770 | 491 | 1 | 1 | 1 |
Total | 109 | 106 | 27536 | 18230 | 96 | 48 | 28 |