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Tabela 12 - Alterações novas raras e raras detectadas no grupo 2 após comparação com o grupo de referência.
Novas Raras
Região
Cromossômica
Casos Start End
Tamanho
(pb)
Grupo
Controle
Nº de
Sondas
Evento P valor Genes MicroRNA
1q23.3 SM150 162030664 162091051 60387 0 5 P 1,66E-15 - - -
1q31.2 SM63 191625780 191727377 101597 0 3 P 9,18E-16 - - -
3p12.3 SM37 78990568 79028038 37470 0 4 P 1,19E-18 ROBO1 - -
3p14.1 SM87 71124097 71233818 109721 0 9 G 6,46E-13 FOXP1 - -
5p15.2 SM88 12752465 12787290 34825 0 3 P 1,17E-14 - - -
5q11.2 SM88 55603156 55657043 53887 0 5 G 5,95E-14 - - -
6p22.1 SM77 29201691 29260945 59254 0 6 P 3,31E-14 OR2J2 - -
7p22.3 SL16 996692 1047907 51215 0 8 G 4,00E-14 C7orf50 hsa-mir-339 -
7q36.3 SM6 158001395 158021351 19956 0 5 P 1,25E-26 PTPRN2 hsa-mir-595 -
11p11.2
SM87
SM88
46965179
46965179
46988641
46988641
23462
23462
0
0
3
3
G
G
2,01E-13
6,87E-13
C11orf49
C11orf49
-
-
-
-
13q14.3 SM37 49039910 49062297 22387 0 5 G 1,02E-20 RCBTB1 - -
14q23.1 LFS144 60588068 60606107 18039 0 3 G 7,19E-16 SLC38A6 - -
15q26.1 SM87 89111000 89147948 36948 0 5 G 3,70E-12 BLM - -
16q21 SM7 61782647 61890318 107671 0 5 P 6,82E-20 - - -
17q25.1 SM87 71478161 71511523 33362 0 3 G 8,68E-15 ACOX1, LOC100134934, CDK3 - -
Xq13.1 SM87 71348690 71391442 42752 0 3 G 5,41E-14 ERCC6L - -
Raras
Região
Cromossômica
1p21.1
Casos Start End
Tamanho
(pb)
Grupo
Controle
Nº de
Sondas
SM88 103899571 104012720 113149 0 6 G 1,67E-13
Evento P valor Genes MicroRNA
AMY2B, LOC648740, AMY2A,
AMY1A, AMY1C, AMY1B
Presença
de CNVs
Presença
de CNVs
- ++
SL154 103899571 104012720 113149 0 6 G 1,74E-27
AMY2B, LOC648740, AMY2A,
AMY1A, AMY1C, AMY1B
- ++
1p31.1 SM33 72541243 72681514 140271 0 6 G 4,93E-15 - - ++
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