Table 1 Summary of nanotatoR annotation results of Duchenne muscular dystrophy patient cohort
From: nanotatoR: a tool for enhanced annotation of genomic structural variants
Sample ID | Overlap Gene | Variant Type | Clinical Significance | Zygosity | Internal Frequency | DGV/BNDB Frequency |
|---|---|---|---|---|---|---|
CDMD1003_P | DMD | Deletion | Pathogenic | Hemizygous | 0 | 0/0 |
CDMD1155_P | DMD | Deletion | Pathogenic | Hemizygous | 0 | 0/0 |
CDMD1156_P | DMD | Deletion | Pathogenic | Hemizygous | 0 | 0/0 |
CDMD1159_P | DMD DMD | Deletion Deletion | Pathogenic Unknown | Hemizygous Hemizygous | 0 0 | 0/0 0/0 |
CDMD1131_P CDMD1132_M | DMD | Deletion | Pathogenic Carrier | Hemizygous Heterozygous | 22% | 0/0 |
CDMD1157_P CDMD1158_M | DMD | Deletion | Pathogenic Non-Carrier | Hemizygous n/a | 11% | 0/0 |
CDMD1163_P CDMD1164_M | DMD | Insertion | Pathogenic Carrier | Hemizygous Heterozygous | 0 | 0/0 |
CDMD1187_P | DMD | Inversion | Pathogenic | Hemizygous | 0 | 0/0 |