NM_000048.4:c.1060C>T | Saudi Arabia | NC_000007.14:g.66089693C>T | Pathogenic | Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.18905C>T; NM_000048.4:c.1060C>T; NP_000039.2:p.Gln354Ter | 367543005 | 21253 |
NM_000048.4:c.1081G>T | Saudi Arabia | NC_000007.14:g.66092024G>T | | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.21236G>T; NM_000048.4:c.1081G>T; NP_000039.2:p.Gly361Ter | | |
NM_000048.4:c.1135C>G | Saudi Arabia | NC_000007.14:g.66092078C>G | Likely Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.21290C>G; NM_000048.4:c.1135C>G; NP_001020115.1:p.Arg359Cys | 28940287 | 2196834 |
NM_000048.4:c.1135C>T | Arab | NC_000007.14:g.66092078C>T | Likely Pathogenic, Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.21290C>T; NM_000048.4:c.1135C>T; NP_000039.2:p.Arg379Cys | 28940287 | 2403 |
NM_000048.4:c.1143+5G>C | Saudi Arabia | NC_000007.14:g.66092091G>C | | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.21303G>C; NM_000048.4:c.1143+5G>C | | |
NM_000048.4:c.1153C>T | Lebanon | NC_000007.14:g.66092566C>T | Likely Pathogenic, Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.21778C>T; NM_000048.4:c.1153C>T; NP_000039.2:p.Arg385Cys | 28940286 | 2401 |
NM_000048.4:c.1275C>T | Arab | NC_000007.14:g.66092792C>T | Likely Benign | Uncertain Significance | Argininosuccinic Aciduria | NG_009288.1:g.22004C>T; NM_000048.4:c.1275C>T; NP_000039.2:p.Ile425= | 771218861 | 799316 |
NM_000048.4:c.175G>A | Morocco | NC_000007.14:g.66081965G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.11177G>A; NM_000048.4:c.175G>A; NP_000039.2:p.Glu59Lys | 869312985 | 224970 |
NM_000048.4:c.332G>A | United Arab Emirates | NC_000007.14:g.66082920G>A | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic, Uncertain Significance | Argininosuccinic Aciduria | NG_009288.1:g.12132G>A; NM_000048.4:c.332G>A; NP_000039.2:p.Arg111Gln | 561367199 | 288770 |
NM_000048.4:c.343G>T | Saudi Arabia | NC_000007.14:g.66082931G>T | | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.12143G>T; NM_000048.4:c.343G>T; NP_000039.2:p.Asp115Tyr | 756692067 | NA |
NM_000048.4:c.346C>T | Arab | NC_000007.14:g.66082934C>T | Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.12146C>T; NM_000048.4:c.346C>T; NP_000039.2:p.Gln116Ter | 367543006 | 21254 |
NM_000048.4:c.469G>A | Saudi Arabia | NC_000007.14:g.66086607G>A | | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.15819G>A; NM_000048.4:c.469G>A; NP_000039.2:p.Gly157Arg | | |
NM_000048.4:c.496C>T | Saudi Arabia | NC_000007.14:g.66086634C>T | Uncertain Significance | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.15846C>T; NM_000048.4:c.496C>T; NP_000039.2:p.Pro166Ser | 1246351622 | 1303073 |
NM_000048.4:c.544C>G | Sudan | NC_000007.14:g.66086763C>G | | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.15975C>G; NM_000048.4:c.544C>G; NP_000039.2:p.Arg182Gly | | |
NM_000048.4:c.544C>T | Saudi Arabia | NC_000007.14:g.66086763C>T | Pathogenic | Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.15975C>T; NM_000048.4:c.544C>T; NP_000039.2:p.Arg182Ter | 398123126 | 92362 |
NM_000048.4:c.556C>T | Saudi Arabia | NC_000007.14:g.66086775C>T | Benign, Likely Benign, Likely Pathogenic, Pathogenic | Likely Pathogenic | Argininosuccinic Aciduria | NG_009288.1:g.15987C>T; NM_000048.4:c.556C>T; NP_000039.2:p.Arg186Trp | 111407265 | 1050820 |