Таблица 2. Наиболее частые патогенные варианты у пациентов с ПЦД из различных этнических групп [Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49(1):1601090]..
| Этническая принадлежность (Местоположени е) | Ген | Изменение на уровне ДНК | Изменение на уровне белка 1 | Референсная последовательност ь |
| Amish &/or | DNAAF5 | c.2384T>C | p.Leu795Pro | NM_017802.3 |
| DNAH5 | c.10815delT | p.Pro3606HisfsTer2 3 | NM_001369.2 |
| Mennonite2 | DNAH5 | c.4348C>T | p.Gln1450Ter | NM_001369.2 |
| DNAI1 | c.48+2dupT | --- | NM_012144.3 |
| Ashkenazi Jewish 3, 4 | CFAP29 8 | c.735C>G | p.Tyr245Ter | NM_021254.3 |
| DNAI2 | c.1304G>A | p.Trp435Ter | NM_023036.4 |
| CCDC65 | c.877_878delAT | p.Ile293ProfsTer2 | NM_033124.4 |
| Asian 5 | DRC1 | c.1- 3952_540+1331del 27748-bp | --- | NM_145038.4 |
| Bedouin 6, 7 | DNAL1 | c.449A>G | p.Asn150Ser | NM_031427.3 |
| RSPH9 | c.804_806delGAA | p.Lys268del | NM_152732.4 |
| Dutch (Volendam) 8 | CCDC11 4 | c.742G>A | p.Ala248Thr | NM_144577.3 |
| Faroe Islands 9 | HYDIN | c.922A>T | p.Lys308Ter | NM_001270974. 1 |
| Irish Traveler 10 | CCNO | c.258_262dupGGCC | p.Gln88ArgfsTer8 | NM_021147.4 |
| RSPH4A | c.166dupC | p.Arg56ProfsTer11 | NM_001010892. 2 |
| DNAAF4 | 3549-bp large deletion | --- | |
| Pakistani (United Kingdom) | LRRC6 | c.630delG 11 | p.Trp210CysfsTer1 2 | NM_012472.4 |
| RSPH4A | c.460C>T 7 | p.Gln154Ter | NM_001010892. 2 |
| CCDC10 3 | c.383dupG 12 | p.Pro129SerfsTer2 5 | NM_213607.2 |
| CCDC10 3 | c.461A>C 12, 13 | p.His154Pro | NM_213607.2 |
| Puerto Rican 14 | RSPH4A | c.921+3_921+6delAA GT | --- | NM_001010892. 2 |
| Polish 15 | CFAP30 0 | c.198_200delTTTinsCC | p.Phe67ProfsTer10 | NM_032930.2 |
- Согласно ресурсу Mutalyzer name checker
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