From: Exome sequencing identifies novel and known mutations in families with intellectual disability
S. no. | Family ID | HBD region (hg19) | SNP ID | Cytoband | Size (Mb) | Candidate gene |
---|---|---|---|---|---|---|
1 | MRID126 | Chr2: 83,570,115–84,550,988 | rs11894798–rs6715601 | p11.2 | 0.9 |  |
Chr14: 43,433,535–44,634,641 | rs1756339–rs12432423 | q21.1–q21.2 | 1.2 |  | ||
2 | MRID137a | Chr9: 33,345,616–44,866,028 | rs706134–rs6606438 | p13.3–p11.2 | 11.5 | GNE |
Chr9: 68,170,421–72,174,392 | rs10120296–rs1970017 | q13–q21.11 | 4 |  | ||
3 | MRID137b | Chr11: 64,333,296–68,033,925 | rs1783811–rs7342161 | q13.1–q13.2 | 3.7 | CCS |
Chr14: 84,223,764–88,646,827 | rs1958453–rs1631092 | q31.2–q31.3 | 4.4 |  | ||
4 | MRID143 | Chr5:34,043,649–68,044,120 | rs890948–rs6898649 | p13.2–q13.1 | 34 | NNT, C5orf42 |
Chr12: 67,044,058–68,434,014 | rs1871549–rs721793 | q14.3–q15 | 1.3 |  | ||
5 | MRID149 | Chr6: 42,091,645–44,568,740 | rs9471773–rs618617 | p21.1 | 2.4 |  |
Chr7: 144,429,379–148,195,384 | rs228587–rs749609 | q35–q36.1 | 3.7 |  | ||
ChrX: 13,849,695–31,782,780 | rs7066605–rs16998223 | p22.2–p21.1 | 17.9 | ARX | ||
ChrX: 124,102,283–154,916,845 | rs2356746–rs669237 | q25–q28 | 30.8 |  | ||
6 | MRID165 | Chr2: 143,230,267–149,936,767 | rs4550612–rs2377510 | q22.2–q23.2 | 6.7 |  |
Chr3: 115,484,045–125,881,122 | rs11929078–rs4679208 | q13.31–q21.3 | 10.3 |  | ||
Chr4: 182,591,864–186,893,350 | rs13144599–rs830829 | q34.3–q4-35.1 | 4.3 |  | ||
ChrX: 21,213,147–42,759,963 | rs9645473–rs205820 | p22.12–p11.3 | 21.5 | IL1RAPL1 | ||
7 | MRID170 | Chr1: 187,967,161–192,598,635 | rs7543364–rs7553821 | q31.1–q31.2 | 4.6 |  |
Chr7: 17,110,253–25,112,709 | rs819367–rs12537364 | p21.1–p15.3 | 8 |  | ||
Chr13: 24,430,875–27,392,427 | rs7325694–rs2149132 | q12.12–q12.13 | 2.96 |  | ||
Chr18: 2,168,420–4,312,630 | rs11659972–rs3850787 | p11.32–p11.31 | 2.14 | METTL4 | ||
8 | MRID175 | Chr4: 166,882,179–175,964,181 | rs7696087–rs1842178 | q32.3–q34.1 | 9.08 |  |
Chr7: 44,935–22,233,813 | rs7456436–rs3813383 | p22.3–p15.3 | 22.1 | ABCB5, ELFN1, C7orf50 | ||
Chr4: 4,339,626–6,427,757 | rs6833372–rs4469149 | p16.3–p16.1 | 2.08 |  |