| CM086900 | c.2312C > T | 15 | P771L | pathogenic | 100 | Saudi | Khan et al., 2008 |
| CM090356 | c.271C > T | 2 | P91S | pathogenic | 50 | Sudanese | Abu-Amero et al., 2009 |
| CM090354 | c.335G > C | 2 | R112P | pathogenic | 120 | Saudi | Abu-Amero et al., 2009 |
| rs771613910 | c.1379A > G | 9 | Q460R | pathogenic | 120 | Saudi | Abu-Amero et al., 2009 |
| HM070122 | c.1726T > C | 11 | W576R | pathogenic | 120 | Saudi | Abu-Amero et al., 2009 |
| CD090357 | c.571delC | 2 | frameshift | pathogenic | 120 | Saudi | Abu-Amero et al., 2009 |
| CM095023 | c.1450T > C | 9 | W484R | pathogenic | NR | Tunisian | Amouri et al., 2009 |
| CM095022 | c.283T > C | 2 | I95T | pathogenic | 100 | Tunisian | Amouri et al., 2009 |
| CD095024 | c.1618delG | 10 | R539fsX574 | pathogenic | NR | Tunisian | Amouri et al., 2009 |
| rs121918277 | c.733C > T | 4 | R245W | pathogenic | NR | Tunisian | Amouri et al., 2009 |
| CD118835 | c.2_16 delTGCTGCGCTACCTGC | 1 |
| pathogenic | 100 | Saudi | Abu-Amero et al., 2011 |
| CX115641 | c.913delAinsTGC | 6 | I305CfsX13 | pathogenic | 144 | Caucasian/Turkish | Volk et al., 2011 |
| CS115643 | c.3319A > C | 22 | skip + frameshift | pathogenic | 144 | Caucasian/Turkish | Volk et al., 2011 |
| CG115642 | c.2769_2779del11, 2779+1_+20del20 | 17 |
| pathogenic | 144 | Caucasian/Turkish | Volk et al., 2011 |
| NA | G > T♦ | 17 | ●E-X | pathogenic | NR | Indian | Ng et al., 2011 |
| rs34519996 | c.541dup | 3 | E181GfsX71 | pathogenic | NR | Kosovar | Kurian et al., 2013 |
| NA | c.2663T > C | 17 | L888P | pathogenic | NR | Saudi | Khan and Abu-Amero, 2014 |
| NA | c.767_776delAGCGTCCCTC | 5 |
| pathogenic | NR | Portuguese | Pina et al. 2014 |
| NA | c.767-2_767-1delAG | 5 |
| pathogenic | NR | Portuguese | Pina et al. 2014 |
| NA | c.2392C > T | 15 | Q798X | pathogenic | NR | Japanese | Yamada et al., 2015 |
| NA | c.2576del | 16 | P859fs | pathogenic | NR | Austrian | Arlt et al., 2015 |
| NA | c.1158G > C | 7 | Q386H | pathogenic | NR | Spanish | Fernández-Vega Cueto et al., 2016 |
| NA | c.416G > T | 2 | G139V | pathogenic | NR | Switzerland | Hackenberg et al., 2017 |
| NA | c.2524C > T | 16 | R842X | pathogenic | NR | Turkish | Bozdoğan et al., 2017 |
| NA | IV55-5delCATAG | 2 |
| pathogenic | NR | Cape Verde | Mendes Marques et al., 2017 |
| NA | c.767_775delAGCGTCCCT | 5 |
| pathogenic | NR | Cape Verde | Mendes Marques et al., 2017 |
| NA | c.1433C > T | 9 | P478L | pathogenic | 100 | Italian | Ungaro et al., 2018 |
| NA | c.3321-G > A | int 22 | Splice site mut | pathogenic | 100 | Italian | Ungaro et al., 2018 |