Publication | N | Diagnosis Age | Location | Variation | cDNA change | Protein change | Exon | ExAC | ClinVar | SIFT | PolyPhen2 |
---|---|---|---|---|---|---|---|---|---|---|---|
Lasorsaab | 1 | 22 months | Adrenal | missense | c.684G > C | p.L228F | 2 | Absent | Absent | deleterious | damaging |
2 | 10 months | Adrenal | non-frameshift deletion | c.1144_1149del | p.382_383del | 5 | Absent | Absent | – | – | |
3 | 24 months | Not specified | missense | c.1151A > G | p.E384G | 5 | Absent | Variant of Uncertain Significance | tolerated | benign | |
missense | c.1878 T > G | p.S626R | 7 | 8.26e-06 | Absent | deleterious | benign | ||||
This publication -Macklinc | 4 | 49 years | olfactory | frameshift deletion | c.1822del | p.L608* | 7 | Absent | pathogenic | – | – |