Manually Genotype(Total Manually Genotypes:41) |
|---|
| Gene |
Mutation |
DOI |
Article Title |
| WAC | NM_016628, c.374C>A (p.S125*) | doi:10.1038/gim.2015.186 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
| CTNNB1 | NM_001904.3:c.1925_1926delAG, p.(Glu642Valfs*5) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| GPR158 | NM_020752.2:c.2816_2817delAA, p.(Lys939Argfs*10) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| RP1L1 | NM_178857.5:c.2365G>T, p.(Ala789Ser ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ZBTB9 | NM_152735.3 :c.1065delA, p.(Gly357Valfs*15) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| JPH3 | NM_020655.3 :c.1013A>T, p.(Tyr338Phe) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ANKRD11 | NM_001256182.1:c.3382_3383delGA, p.(Asp1128Glnfs*41) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| REPIN1 | NM_013400.3 :c.1177C>T, p.(His393Tyr ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| FREM1 | NM_144966.5:c.3899C>T, p.(Ser1300Leu) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| DIAPH2 | NM_006729.4:c.3226A>G, p.(Ile1076Val ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| MATN2 | NM_002380.3:c.2097T>C, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| TEKT3 | NM_031898.2:c.1046A>G, p.(Asn349Ser) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ADNP | NM_015339.2 :c.2496_2499delTAAA, p.(Asn832Lysfs*81 ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| PATE4 | NM_001144874.1:c.19C>T, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| STAB1 | NM_015136.2:c.955G>A, p.(Ala319Thr) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ZSCAN2 | NM_181877.3:c.617T>C, p.(Val206Ala ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| SLC35E4 | NM_001001479.2:c.541G>A, p.(Glu181Lys) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| SMARCB1 | NM_003073.3 :c.1113C>G, p.(Asn371Lys ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| TBL1XR1 | NM_024665.4:c.1389C>G, p.(Asp463Glu ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| FBF1 | NM_001080542.1 :c.930C>T, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| EVC | NM_153717.2:c.255G>A, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ELMSAN1 | NM_194278.3 :c.1961A>C, p.(Tyr654Ser ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| TMEM39A | NM_018266.2:c.258T>C, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| APBA3 | NM_004886.3 :c.1047C>A, p.(Phe349Leu ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| FRAS1 | NM_025074.6:c.5915C>T, p.(Ser1972Leu) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| CHD4 | NM_001273.2 :c.3518G>T, p.(Arg1173Leu) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| KIFAP3 | NM_001204517.1:c.2077G>A, p.(Ala693Thr) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| HNRNPU | NM_031844.2:c.2299_2302delAACA, p.(Asn767Glufs*66) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| ZBTB49 | NM_145291.3:c.1770C>T, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| CDK3 | NM_001258.2:c.735G>A, n/a | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| HEXDC | NM_173620.2 :c.947C>T, p.(Pro316Leu) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| MST1 | NM_020998.3:c.1603C>G, p.(Arg535Gly) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| OLFML2A | NM_182487.3:c.1666G>A, p.(Gly556Ser ) | doi:10.1038/gim.2015.200 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
| JMJD1C | Exon 8, c. 808G>A | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 8, c. 1703A>T | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 8, c.1949C>T | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 10, c. 4180A>T | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 10, c. 4808T>C | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 10, c. 3308A>G | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 10, c. 3559A>G | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
| JMJD1C | Exon 10, c. 3743A>G | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
