rs550454340 | c.1957A > C | 13 | S653R | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs778522624 | c.2048C > T | 13 | P683L | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs184921255 | c.2102G > T | 14 | G701V | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs189303564 | c.2183G > A | 14 | S728N | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs372821877 | c.2427G > A | 16 | W809X | pathogenic | NR | NR | EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, 2017 |
rs536588537 | c.2504T > C | 16 | L835P | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs199932669 | c.2621T > A | 17 | L874Q | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs756785207 | c.2779 + 9C > T | int |
| uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs763859563 | c.2931A > T | 20 | E977D | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs765206958 | c.2947T > C | 20 | C983R | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs75098003 | c.2993G > T | 21 | G998V | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs886047909 | c.3091A > C | 21 | T1031P | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs886047910 | c.3139T > G | 21 | W1047G | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs761311616 | c.3320+12C > T | int |
| uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs886047912 | c.3706G > A | 25 | G1236R | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |
rs886047913 | c.3707G > T | 25 | G1236V | uncertain significance | NR | NR | Illumina Clinical Services Laboratory, Illumina, 2016 |