Table 2 List of candidate regions and genes selected based on the linkage analysis in each family
Gene-set analysis | ||||
|---|---|---|---|---|
Family | LR selected | Genes with rare variants in WES | Pself-contained | Pcompetitive |
P1 | 8:118608158–124649389 | ----- | 0.2838 | 0.4512 |
9:7754113–15568230 | TYRP1, FREM1 | |||
9:97466973–102213749 | ----- | |||
11:115218677–120365028 | NXPE1,TMEM25, HYOU1, VPS11, ABCG4, CCDC153 | |||
16:63079319–66386711 | HSF4 | |||
16:81159781–83154022 | DYNLRB2, PKD1L2, PLCG2, OSGIN1, MBTPS1 | |||
P2 | 8:118608158–124649389 | DEPTOR, ATAD2 | 0.0066 | 0.0042 |
9:7754113–15568230 | PTPRD, TYRP1, FREM1 | |||
9:97466973–102213749 | HSD17B3, AAED1, ANP32Ba, TBC1D2 | |||
10:56177098–58789387 | PCDH15 | |||
10:64668048–65875491 | ----- | |||
11:21968768–29134515 | ANO3 | |||
11:115218677–120365028 | BUD13, VPS11 | |||
13:106701406–109091885 | ----- | |||
16:63079319–66386711 | ----- | |||
P3 | 6:203878–460901 | ----- | 0.1368 | 0.1393 |
6:3446942–4470581 | ----- | |||
9:97466973–102213749 | ----- | |||
10:14311273–15844850 | ----- | |||
10:64668048–65875491 | ----- | |||
11:115218677–120365028 | BUD13, TMEM25, VPS11 | |||
13:106701406–109091885 | ----- | |||
16:63079319–66386711 | CDH5 | |||
16:81159781–83154022 | MBTPS1 | |||