Table 1 The 26 de novo single-nucleotide variants found in the trios exome sequencing data.
chr | pos | rsID | band | gene | impact | family | frequency |
---|---|---|---|---|---|---|---|
1 | 2494330 | rs2234167 | 1p36.32 | TNFRSF14 | NON SYNONYMOUS CODING | NN2624 | common |
1 | 41296828 | rs34287852 | 1p34.2 | KCNQ4 | NON SYNONYMOUS CODING | NN2901 | common |
2 | 233537125 | rs11550699 | 2q37.1 | EFHD1 | NON SYNONYMOUS CODING | NN3752 | common |
3 | 193380726 | rs200412464 | 3q29 | OPA1 | NON SYNONYMOUS CODING | NN3506 | very rare |
4 | 169195114 | . | 4q32.3 | DDX60 | NON SYNONYMOUS CODING | NN3506 | novel |
5 | 825280 | rs1809008 | 5p15.33 | ZDHHC11 | NON SYNONYMOUS CODING | NN1075 | common |
7 | 12409263 | rs17165906 | 7p21.3 | VWDE | NON SYNONYMOUS CODING | NN2624 | common |
7 | 12409327 | rs17165910 | 7p21.3 | VWDE | NON SYNONYMOUS CODING | NN2624 | common |
7 | 73969541 | rs2301895 | 7q11.23 | GTF2IRD1 | NON SYNONYMOUS CODING | 1659F | common |
9 | 87338590 | . | 9q21.33 | NTRK2 | NON SYNONYMOUS CODING | NN3506 | novel |
9 | 101831995 | rs10519 | 9q22.33 | COL15A1 | NON SYNONYMOUS CODING | 1013F | common |
9 | 133577672 | . | 9q34.12 | EXOSC2 | NON SYNONYMOUS CODING | NN3506 | novel |
9 | 139694569 | rs7859194 | 9q34.3 | KIAA1984 | NON SYNONYMOUS CODING | 1350F | common |
13 | 52544805 | rs1801244 | 13q14.3 | ATP7B | NON SYNONYMOUS CODING | NN2624 | common |
14 | 20249176 | rs2815960 | 14q11.2 | OR4M1 | NON SYNONYMOUS CODING | 1802F | common |
14 | 24629768 | . | 14q12 | RNF31 | NON SYNONYMOUS CODING | 1013F | novel |
14 | 25043951 | rs61737120 | 14q12 | CTSG | NON SYNONYMOUS CODING | 691F | rare |
14 | 102391577 | rs3742424 | 14q32.31 | PPP2R5C | NON SYNONYMOUS CODING | 1732F | common |
15 | 90818469 | rs12595409 | 15q26.1 | NGRN (dist:3026) DQ582071 (dist:18035) | STOP GAINED | NN3506 | common |
17 | 7329310 | . | 17p13.1 | C17orf74 | SPLICE SITE ACCEPTOR | 1372F | novel |
17 | 11784614 | . | 17p12 | DNAH9 | NON SYNONYMOUS CODING | 1659F | novel |
18 | 61323012 | rs3180227 | 18q21.33 | SERPINB3 | NON SYNONYMOUS CODING | 894F | common |
18 | 61570529 | rs6104 | 18q21.33 | SERPINB2 | NON SYNONYMOUS CODING | NN3506 | common |
19 | 5691424 | . | 19p13.3 | RPL36 | NON SYNONYMOUS CODING | NN3538 | novel |
19 | 8191184 | rs35025963 | 19p13.2 | FBN3 | NON SYNONYMOUS CODING | NN1075 | common |
19 | 17660300 | rs11666267 | 19p13.11 | FAM129C | NON SYNONYMOUS CODING | 1659F | common |