HGVS nomenclature | Effect protein level | Exon | Country | Reference |
---|---|---|---|---|
c.582G > A | p.(Trp194Ter) | 7 | South Africa | [16] |
c.771_775delTCAAA | p.(Asn257Lysfs | 9 | Egypt | [38] |
c.1528G > T | p.(Glu510Ter) | 10 | Algeria | [35] |
c.1310_1313delAAGA | p.(Lys437Ilefs) | 10 | Nigeria/Tunisia | |
c.1362delA | p.(Lys454Asnfs) | 10 | Nigeria | [37] |
c.5722_5723delCT | p.(Leu1908Argfs) | 11 | Algeria | [43] |
c.6446_6450delTTAAA | p.(Ile2149Serfs) | 11 | Algeria | [35] |
c.3381delT | p.(Phe1127Leufs) | 11 | Morocco | [39] |
c.5073dupA | p.(Trp1692Metfs) | 11 | Morocco | [44] |
c.6428C > A | p.(Ser2143Ter) | 11 | Morocco | [45] |
c.2402_2412delACAATTATGAA | p.(Asn801Ilefs) | 11 | Nigeria | [37] |
c.2808_2811del | p.(Ala938Profs) | 11 | Nigeria | [37] |
c.5130_5133delTGTA | p.(Tyr1710Terfs) | 11 | Nigeria | [37] |
c.5141_5144delATTT | p.(Tyr1714Cysfs) | 11 | Nigeria | [37] |
c.5353_5354delAC | p.(Thr1785Terfs) | 11 | Nigeria | [37] |
c.3195_3198delTAAT | p.(Asn1066Leufs) | 11 | Soudan | [36] |
c.6406_6407delTT | p.(Leu2136Lysfs) | 11 | Soudan | [36] |
c.4798_4800delAAT | p.(Asn1600del) | 11 | South Africa | [16] |
c.5213_5216delCTTA | p.(Thr1738Ilefs) | 11 | South Africa | [16] |
c.5771_5774delTTCA | p.(Ile1924Argfs) | 11 | South Africa | [16] |
c.5946delT | p.(Ser1982Argfs) | 11 | South Africa | [32] |
c.6447_6448dupTA | p.(Lys2150Ilefs) | 11 | South Africa | [32] |
c.6761_6762delTT | p.(Phe2254Tyrfs) | 11 | South Africa | [33] |
c.5681dupA | p.(Tyr1894Terfs) | 11 | Tunisia | [40] |
c.7110delA | p.(Lys2370Asnfs) | 13 | Morocco | [39] |
c.7234_7235insG | p.(Thr2412Serfs) | 13 | Morocco | [39] |
c.7254_7255delAG | p.(Arg2418Serfs) | 14 | Nigeria | [37] |
c.6174delT | p.(Phe2058Leufs) | 15 | South Africa | [34] |
c.7654dupA | p.(Ile2552Asnfs) | 16 | Algeria/Tunisia | |
c.7934delG | p.(Arg2645Asnfs) | 17 | South Africa | [33] |
c.8817_8820delGAAA | p.(Lys2939Asnfs) | 22 | Nigeria | [37] |
c.9097dupA | p.(Thr3033Asnfs) | 23 | South Africa | [16] |
c.9196C > T | p.(Gln3066Ter) | 24 | Nigeria | [37] |