Variant | Gene | Transcript | AA Change | Consequence | Allele Count | Sample Count | MAF | CADD Score |
---|---|---|---|---|---|---|---|---|
9-130980937-G-A | DNM1 | ENST00000372923 | - | synonymous | 26 | 169 | 0.0769 | 15.83 |
9-130980947-G-A | DNM1 | ENST00000372923 | V108I | missense | 1 | 169 | 0.003 | 15.1 |
9-130980982-T-C | DNM1 | ENST00000372923 | - | synonymous | 1 | 169 | 0.003 | 10.69 |
9-130982480-C-T | DNM1 | ENST00000372923 | R237W | missense | 1 | 169 | 0.003 | 34.0 |
9-130984755-C-T | DNM1 | ENST00000372923 | - | synonymous | 95 | 134 | 0.3545 | 16.51 |
9-130984756-G-A | DNM1 | ENST00000372923 | A337T | missense | 1 | 169 | 0.003 | 23.7 |
9-130984809-C-T | DNM1 | ENST00000482638 | T1M | initiator codon | 19 | 165 | 0.0576 | 12.34 |
9-130985133-G-A | DNM1 | ENST00000372923 | G397D | missense | 1 | 168 | 0.003 | 25.9 |
9-130996336-C-A | DNM1 | ENST00000372923 | R458S | missense | 1 | 165 | 0.003 | 29.2 |