Table S2: List of homozygous variants left after filtering in individual AL-IV-3
TA-SHMA, Asaf, et al. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PLoS genetics, 2018, 14. Jg., Nr. 8, S. e1007602.
Publication: https://doi.org/10.1371/journal.pgen.1007602
Description
Disclaimer
The publication Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility by Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran is published under an open access license: https://creativecommons.org/licenses/by/4.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material for any purpose, even commercially.
Curation by the MFGA team
Pie chart of selected column
Table
| ARTIFACTID | CHR | GENE | STARTPOSITION | AaChange | RefSeq | VarSeq | VarType | Protimpactlist | GlobalAlleleFreq |
|---|---|---|---|---|---|---|---|---|---|
| 12 | KDM5A | 475269 | I-123-N | A | T | SNP (x2) | MISSENSE | 0 | |
| 11 | LTBP3 | 65307193 | A-1182-V | G | A | SNP (x2) | MISSENSE | 0 | |
| rs140014929 | 3 | CNTN6 | 1418745 | V-718-I | G | A | SNP (x2) | MISSENSE | 0.01 |
| rs146982976 | 8 | MATN2 | 98991129 | A-325-V | C | T | SNP (x2) | MISSENSE | 0.26 |
| rs144150517 | 14 | TEP1 | 20849189 | R-1555-G | G | C | SNP (x2) | MISSENSE | 0.17 |
| rs2232250 | 3 | HEMK1 | 50614965 | R-192-Q | G | A | SNP (x2) | MISSENSE | 0.33 |
| 8 | MATN2 | 99042725 | I-798-L | A | C | SNP (x2) | MISSENSE | 0 | |
| rs61750375 | 3 | SERPINI1 | 168000000 | V-97-I | G | A | SNP (x2) | MISSENSE | 0.46 |
| rs567370905 | 1 | CNST | 247000000 | S-113-N | G | A | SNP (x2) | MISSENSE | 0.12 |
| 1 | PPFIA4 | 203000000 | P-528-L | C | T | SNP (x2) | MISSENSE | 0 | |
| rs138842024 | 1 | DFFA | 10529326 | I-69-T | A | G | SNP (x2) | MISSENSE | 0.34 |
| rs72647372 | 12 | WNK1 | 863309 | P-193-Q | C | A | SNP (x2) | MISSENSE | 0.05 |
| 22 | MICALL1 | 38318211 | D-268-H | G | C | SNP (x2) | MISSENSE | 0 | |
| rs143974084 | 1 | CASZ1 | 10714097 | A-673-T | C | T | SNP (x2) | MISSENSE | 0.01 |
| rs200409823 | 3 | IFRD2 | 50329885 | S-5-T | A | T | SNP (x2) | MISSENSE | 0.03 |
| rs12407578 | 1 | VPS13D | 12337667 | S-1341-L | C | T | SNP (x2) | MISSENSE | 0.27 |
| 3 | ZNF589 | 48310010 | V-277-I | G | A | SNP (x2) | MISSENSE | 0 | |
| rs114329675 | 3 | ZMYND10 | 50379289 | Q-358-R | T | C | SNP (x2) | MISSENSE | 0.17 |
| rs17076541 | 3 | TOPAZ1 | 44285446 | Q-483-R | A | G | SNP (x2) | MISSENSE | 0.35 |
| rs17215402 | 12 | KCNA5 | 5154242 | P-310-L | C | T | SNP (x2) | MISSENSE | 0.37 |
| 12 | RAD52 | 1023269 | -329-C | G | C | SNP (x2) | MISSENSE | 0 | |
| rs143200811 | 11 | TRPT1 | 63992155 | SP-123-L | G | A | SNP (x2) | MISSENSE | 0.03 |
| rs116944010 | 12 | CELA1 | 51740410 | Y-5-H | A | G | SNP (x2) | MISSENSE | 0.02 |
| rs117443541 | 12 | CELA1 | 51740409 | Y-5-S | T | G | SNP (x2) | MISSENSE | 0.02 |
| rs200444167 | 11 | AHNAK | 62294549 | H-2447-P | T | G | SNP (x2) | MISSENSE | 0.01 |
| rs185005213 | 15 | MNS1 | 56736015 | R-242-* | G | A | SNP (x2) | NONSENSE | 0.04 |