Allele 1 | Allele 2 | Patients reported | Unrelated families | Nationality of patients | Reference |
---|---|---|---|---|---|
c.436G > C | c.436G > C | 1 | 1 | Algerian | Osimani, et al., 2009 |
c.436G > C | c.721C > T | 1 | 1 | American Hispanic | Gelb, et al., 1996 |
c.235G > A | c.238delG | 1 | 1 | Austria | Fratzl-Zelman, et al., 2004 |
c.934C > G | c.934C > G | 1 | 1 | Austria | Fratzl-Zelman, et al., 2004 |
c.830C > T | c.830C > T | 1 | 1 | Belgian | Gelb, et al., 1998 |
c.953G > A | c.953G > A | 2 | 2 | Brazil | Bertola et al., 2010 |
c.953G > A | c.721C > T | 1 | 1 | Brazil | Bertola et al., 2010 |
c.721C > T | c.436G > C | 1 | 1 | Brazil | Bertola et al., 2010 |
c.721C > T | c.721C > T | 2 | 2 | Brazil | Bertola et al., 2010 |
c.494A > G | c.721C > T | 1 | 1 | Caucasian | Laffranchi et al., 2010 |
c.154A > T | c.236G > A | 2 | 1 | Caucasian | Ho, et al., 1999 |
c.560A > C | c.560A > C | 1 | 1 | Chinese | Li, et al., 2009 |
c.121-1G > A | c.926T > C | 1 | 1 | Denmark | Haagerup, et al., 2000 |
c.236G > A | c.926T > C | 1 | 1 | Denmark | Haagerup, et al., 2000 |
c.926T > C | c.926T > C | 6 | 3 | Denmark | Haagerup, et al., 2000 |
c.890G > A; 785_890del | c.890G > A; 785_890del | 1 | 1 | Egypt | Donnarumma, et al., 2007 |
c.136C > T | c.136C > T | 3 | 1 | Germany | Schilling, et al., 2007 |
c.934C > G | c.934C > G | 2 | 1 | Honduran | Hou, et al., 1999 |
c.830C > A | c.830C > A | 1 | 1 | Indian | Hou, et al., 1999 |
c.990A > G | c.990A > G | 16 | 1 | Israeli Arab | Gelb, et al., 1996 |
c.20T > C | c.580G > A | 1 | 1 | Italy | Donnarumma, et al., 2007 |
c.494A > G | c.721C > T | 1 | 1 | Italy | Donnarumma, et al., 2007 |
c.26T > C | c.26T > C | 2 | 2 | Japanese | Nishi, et al., 1999; Fujita, et al., 2000 |
c.26T > C | c.892T > C | 1 | 1 | Japanese | Nishi, et al., 1999 |
c.426delT | c.426delT | 2 | 2 | Japanese | Fujita, et al., 2000 |
c.830C > T | c.830C > T | 3 | 3 | Japanese | Nishi, et al., 1999; Fujita, et al., 2000 |
c.721C > T | c.721C > T | 10 | 1 | Mexican | Johnson, et al., 1996 |
c.908G > A | c.908G > A | 3 | 1 | Mexican | Toral-Lopez et al., 2010 |
c.60_61dupGA | c.60_61dupGA | 3 | 1 | Moroccan | Donnarumma, et al., 2007 |
c.436G > C | c.436G > C | 1 | 1 | Moroccan | Rothenbuhler et al., 2010 |
c.436G > C | c.436G > C | 2 | 1 | Moroccan Arab | Gelb, et al., 1996 |
c.282dupA | c.282dupA | 1 | 1 | Pakistan | Donnarumma, et al., 2007 |
c.728G > A | c.728G > A | 5 | 1 | Pakistani | Khan et al., 2010 |
c.749A > G | c.749A > G | 1 | 1 | Pakistan | Donnarumma, et al., 2007 |
c.830C > T | c.830C > T | 5 | 3 | Pakistan | Donnarumma, et al., 2007; Naeem, et al., 2009 |
c.955G > T | c.955G > T | 1 | 1 | Pakistan | Donnarumma, et al., 2007 |
c.721C > T | c.721C > T | 2 | 2 | Portuguese | Hou, et al., 1999; Donnarumma, et al., 2007 |
c.830C > A | c.830C > A | 1 | 1 | Portuguese | Hou, et al., 1999 |
c.635A > G | c.721C > T | 1 | 1 | Spanish | Hou, et al., 1999 |
c.721C > T | c.746T > C | 1 | 1 | Spanish | Donnarumma, et al., 2007 |
c.721C > T | c.721C > T | 1 | 1 | Spanish | Rothenbuhler et al., 2010 |
c.931G > C | c.931G > C | 2 | 1 | Swiss | Nishi, et al., 1999 |
c.436G > C | c.436G > C | 1 | 1 | Tunisia | Donnarumma, et al., 2007 |
c.154A > T | c.236G > A | 1 | 1 | * | Hou, et al., 1999 |
c.568C > T | c.568C > T | 1 | 1 | * | Hou, et al., 1999 |
c.830C > T | c.830C > T | 1 | 1 | * | Hou, et al., 1999 |
c.422C > T | c.422C > T | 1 | 1 | Unknown | Chavassieux, et al., 2008 |
c.721C > T | c.721C > T | 3 | 1 | Unknown | Everts, et al., 2003 |