Variant ID | Nucleotide change | Exon | Amino acid change | Clinical significance | Control screened | Ethnicity | References |
rs121918275 | c.14T > C | 1 | L5P | pathogenic | 106 | Italian | Jen et al., 2004 |
rs121918276 | c.196A > C | 2 | I66L | pathogenic | 175 | Greek | Jen et al., 2004 |
rs121918274 | c.955G > A | 6 | E319K | pathogenic | 197 | Greek | Jen et al., 2004 |
rs121918271 | c.2108G > C | 14 | R703P | pathogenic | 150 | Turkish | Jen et al., 2004 |
rs121918272 | c.2113T > C | 14 | S705P | pathogenic | 116 | Saudi | Jen et al., 2004 |
rs121918270 | c.1082G > A | 7 | G361E | pathogenic | 95 | Indian | Jen et al., 2004 |
rs121918273 | c.1366G > T | 9 | G456X | pathogenic | 95 | Turkish | Jen et al., 2004 |
CI041652 | c.2310 + 1C | 15 | frameshift | pathogenic | 106 | Pakistani | Jen et al., 2004 |
CI041653 | c.3325 + 1G | 23 | frameshift | pathogenic | 116 | Saudi | Jen et al., 2004 |
CS041545 | c.IVS13 + 1G > A | 13 | frameshift | pathogenic | 93 | Saudi | Jen et al., 2004 |
rs121918277 | c.733C > T | 4 | R245W | pathogenic | 87 | Irish/English | Chan et al., 2006 |
rs121918278 | c.2317C > T | 15 | Q773X | pathogenic | 87 | Irish/English | Chan et al., 2006 |
CD061464 | c.1886_1887delTT | 12 | frameshift | pathogenic | 87 | Irish/German | Chan et al., 2006 |
CD061465 | c.1844_1845delCA | 12 | frameshift | pathogenic | 87 | Irish/German | Chan et al., 2006 |