NM_000372.4:c.1207del | Lebanon | NC_000011.10:g.89284795del | | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.111924del; NM_000372.4:c.1207del; NP_000363.1:p.Arg403GlyfsTer82 | | |
NM_000372.4:c.814T>C | Lebanon | NC_000011.10:g.89178767T>C | Likely Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.5896T>C; NM_000372.4:c.814T>C; NP_000363.1:p.Trp272Arg | | |
NM_000372.5:c.1037-1G>A | Lebanon; Saudi Arabia | chr11:89227822 | Pathogenic | Pathogenic | Oculocutaneous Albinism, Type IA | NG_008748.1:g.54951G>A; NM_000372.5:c.1037-1G>A | 61754382 | 99526 |
NM_000372.5:c.1037G>A | Lebanon | NC_000011.10:g.89227823G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.54952G>A; NM_000372.5:c.1037G>A; NP_000363.1:p.Gly346Glu | 773970123 | 617799 |
NM_000372.5:c.1076A>T | Lebanon | NC_000011.10:g.89227862A>T | | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.54991A>T; NM_000372.5:c.1076A>T; NP_000363.1:p.Gln359Leu | 1943996792 | |
NM_000372.5:c.1078A>G | Lebanon | NC_000011.10:g.89227864A>G | | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.54993A>G; NM_000372.5:c.1078A>G; NP_000363.1:p.Ser360Gly | | |
NM_000372.5:c.1204C>T | Lebanon | NC_000011.10:g.89284792C>T | Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.111921C>T; NM_000372.5:c.1204C>T; NP_000363.1:p.Arg402Ter | 62645917 | 99542 |
NM_000372.5:c.1298A>G | Lebanon | NC_000011.10:g.89284886A>G | | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.112015A>G; NM_000372.5:c.1298A>G; NP_000363.1:p.Tyr433Cys | 1944764003 | |
NM_000372.5:c.1342G>A | Lebanon | NC_000011.10:g.89284930G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.112059G>A; NM_000372.5:c.1342G>A; NP_000363.1:p.Asp448Asn | 104894318 | 3802 |
NM_000372.5:c.149C>A | Lebanon | chr11:89178102 | Likely Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.5231C>A; NM_000372.5:c.149C>A; NP_000363.1:p.Ser50Ter | 61753181 | 99550 |
NM_000372.5:c.255T>G | Lebanon | chr11:89178208 | | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.5337T>G; NM_000372.5:c.255T>G; NP_000363.1:p.Tyr85Ter | 746208814 | |
NM_000372.5:c.766C>T | Lebanon | chr11:89178719 | Likely Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.5848C>T; NM_000372.5:c.766C>T; NP_000363.1:p.His256Tyr | 61754370 | 99580 |
NM_000372.5:c.816G>C | Egypt; Jordan | NC_000011.10:g.89178769G>C | | Likely Pathogenic | Oculocutaneous Albinism, Type IA | NG_008748.1:g.5898G>C; NM_000372.5:c.816G>C; NP_000363.1:p.Trp272Cys | 62645902 | 99581 |
NM_000372.5:c.895C>T | Lebanon; Saudi Arabia | chr11:89191277 | Pathogenic | Pathogenic | Oculocutaneous Albinism, Type IA | NG_008748.1:g.18406C>T; NM_000372.5:c.895C>T; NP_000363.1:p.Arg299Cys | 61754374 | 1284359 |
NM_000372.5:c.896G>A | Lebanon | NC_000011.10:g.89191278G>A | Pathogenic | Likely Pathogenic | Oculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1B | NG_008748.1:g.18407G>A; NM_000372.5:c.896G>A; NP_000363.1:p.Arg299His | 61754375 | 3796 |