This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions
| variants | |
| variantItem | NM_001354609.2:c.1799T>A |
| presence | false |
| variants | |
| variantItem | NM_007294.4:c.5559C>A |
| presence | false |
| variants | |
| variantItem | NM_001354609.2:c.1802= |
| presence | false |
| variants | |
| variantItem | NC_000001.10:g.12225351T>A |
| presence | false |
| variants | |
| variantItem | NM_000038.6:c.55G>T |
| presence | true |
| variant | Variant |