Table 3.
Pathogenic and/or likely pathogenic variants found in each gene in the study population.
| Gene | Variants Observed in Northern Cyprus | Gene | Variants Observed in Northern Cyprus |
|---|---|---|---|
| CYP21A2 | NM_000500.5:c.850A>G, p.(Met284Val), rs770199817 | ACADM | NM_001286043.1:c.244dup, p.(Trp82Leufs*15) |
| NM_000500.5:c.844G>T, p.(Val282Leu) | NAGS | NM_153006.2:c.1552G>A, p.(Ala518Thr), rs745511282 | |
| NM_000500.5: c.293-13C>G | SUCLG1 | NM_003849.3:c.823dup, p.(Ser275Phefs*38) | |
| NM_000500.5:c.1174G>A, p.(Ala392Thr), rs202242769 | ASS1 | NM_000050.4:c.1168G>A, p.(Gly390Arg), rs121908641 | |
| NM_000500.5:c.1360C>T, p.(Pro454Ser), rs6445 | CYP27A1 | NM_000784.3:c.1184+1G>A, rs587778777 | |
| HBB | NM_000518.4: c.93-21G>A, rs35004220 | AMT | NM_000481.3:c.992G>A, p.(Arg331Gln) |
| NM_000518.4:c.118C>T, p.(Gln40*), rs11549407 | PCCA | NM_000282.3:c.1495del, p.(Ile499Serfs*19) | |
| NM_000518.4:c.20A>T, p.(Glu7Val), rs334 | SEC23B | NM_001172745.1:c.40C>T, p.(Arg14Trp), rs121918222 | |
| BTD | NM_001281723.2:c.1336G>C, p.(Asp446His), rs13078881 | FBXL4 | NM_001278716.1:c.616C>T, p.(Arg206*), rs964532159 |
| c.1489C>T, p.Pro497Ser, rs138818907 | CTSK | NM_000396.3:c.721C>T, p.(Arg241*), rs74315303 | |
| NM_000060:c.1330G>C, p.Asp444His, rs13078881 | C12orf65 | NM_001143905.2:c.248del, p.(Val83Glyfs*2), rs587776508 | |
| CFTR | NM_000492.3:c.3872A>G, p.(Gln1291Arg), rs397508621 | CCBE1 | NM_133459.3:c.521G>A, p.(Cys174Tyr) |
| NM_000492.3:c.2249C>T, p.(Pro750Leu), rs140455771 | CDK10 | NM_052988.4: c.609-1G>A, rs767176610 | |
| NM_000492.3:c.3205G>A, p.(Gly1069Arg), rs200321110 | CEP135 | NM_025009.4:c.2722C>T, p.(Arg908*), rs186530606 | |
| c.2991G>C, p.Leu997Phe, rs213950 | CHRNG | NM_005199.4:c.753_754del, p.(Val253Alafs*44), rs767503038 | |
| NM_000492.3:c.3472C>T, p.(Arg1158*), rs79850223 | MUTYH | NM_001128425.1:c.884C>T, p.(Pro295Leu), rs374950566 | |
| c.2421A>G, p.Ile807Met, rs1800103 | CLCN1 | NM_000083.2: c.854G>A, p.(Gly285Glu), rs150885084 | |
| RBM8A | NM_005105.4:c.-21G>A, rs139428292 | COL18A1 | ENST00000359759.8:c.4768_4769del, p.(Leu1590Valfs*72), rs398122391 |
| GAA | NM_000152.3:c.1194+45G>A, rs369080138 | KIAA0586 | NM_001244189.1:c.428del, p.(Arg143Lysfs*4), rs534542684 |
| NM_000152.3:c.-32-13T>G, rs386834236 | SLC25A26 | ENST00000354883.10:c.316C>T, p.(Arg106*), rs150756149 | |
| NM_000152.3:c.1828G>A, p.(Ala610Thr), rs144731405 | FANCE | NM_021922.2:c.355C>T, p.(Gln119*), rs121434505 | |
| GJB2 | NM_004004.5:c.35del, p.(Gly12Valfs*2), rs80338939 | FTCD | NM_001320412.1:c.990dup, p.(Pro331Alafs*2), rs398124234 |
| NM_004004.5:c.269T>C, p.(leu90Pro), rs80338945 | G6PD | NM_000402.3:c.653C>T, p.(Ser218Phe), rs5030868 | |
| PAH | NM_000277.1:c.1066-11G>A, rs5030855 | GHR | NM_001242399.2: c.739T>C, p.(Tyr247His), rs143814221 |
| NNM_000277.1:c.1139C>T, p.(Thr380Met) | HBA2 | NM_000517.4:c.*92A>G, rs63750067 | |
| ATP7B | NM_000053.2:c.122A>G, p.(Asn41Ser), rs201738967 | MFSD8 | NM_152778.2:c.1361T>C, p.(Met454Thr), rs559155109 |
| NM_000053.2:c.3053C>T, p.(Ala1018Val), rs371840514 | MOCS2 | NM_004531.3:c.471_477delinsG, p.(Leu158_Lys159del) | |
| GALC | NM_000153.3:c.956A>G, p.(Tyr319Cys), rs183105855 | PGAP3 | NM_033419.3:c.*559_*560inv |
| NM_000153.3:c.1901T>C, p.(Leu634Ser), rs138577661 | NPHS1 | NM_004646.3:c.1379G>A, p.(Arg460Gln), rs386833880 | |
| PYGM | NM_005609.3:c.808C>T, p.(Arg270*), rs767739769 | PKLR | NM_000298.5:c.1456C>T, p.(Arg486Trp) |
| COL4A3 | NM_000091.3:c.4421T>C, p.(Leu1474Pro), rs200302125 | PYROXD1 | NM_024854.3:c.464A>G, p.(Asn155Ser), rs781565158 |
| CYP11B2 | NM_000498.3:c.788T>A, p.(Ile263Asn) | TNFRSF13B | NM_012452.2:c.204dup, p.(Leu69Thrfs*12), rs72553875 |
| ECHS1 | NM_004092.3:c.476A>G, p.(Gln159Arg) | ABCD1 | NM_000033.3:c.1699C>T, p.(Gln567*), rs201114595 |
| NM_004092.3:c.538A>G, p.(Thr180Ala), rs557128093 | NPC1 | NM_000271.4:c.506A>T, p.(Asn169Ile) | |
| HBA1 | NM_000558.3: c.95+2_95+6del | PLOD2 | NM_182943.2:c.1856G>A, p.(Arg619His), rs121434461 |
| LAMA2 | NM_000426.3: c.2451-2A>G, rs993196576 | DHTKD1 | NM_018706.6:c.2185G>A, p.(Gly729Arg), rs117225135 |
| OPHN1 | NM_002547.3:c.1484del, p.Lys495Argfs*9 | GALT | NM_0.000155.3: c.940A>G, p.N314D, rs2070074 |
| POLR3A | NM_007055.3:c.1771-7C>G, rs201314157 | SBDS | NM_016038.2:c.258+2T>C, rs113993993 |
| NM_007055.3:c.1771-7C>G, rs201314157 | WDR35 | NM_001006657.1:c.1922T>G, p.(Leu641*), rs199952377 | |
| MYH7 | NM_000257.2:c.2609G>A, p.(Arg870His), rs36211715 | ABCC6 | NM_001171.5:c.3421C>T, p.(Arg1141*), rs72653706 |
| IFIH1 | NM_022168.3:c.2465G>A, p.(Arg822Gln), rs376048533 | COLQ | NM_005677.3:c.1082del, p.(Pro361Leufs*65), rs769982050 |
| EXPH5 | NM_015065.2:c.2004_2014del, p.(Thr670Cysfs*8) | GCH1 | NM_000161.2:c.671A>G, p.(Lys224Arg), rs41298442 |
| POMT1 | NM_007171.3:c.598G>C, p.(Ala200Pro), rs119462982 |