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REPORT for rd16
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Reference Sequence: rCRS Number of Variants Uploaded: 33 Number of Variants Mapped: 30 Novel Variants: 3 Haplogroup: U2a1 |
Disease Associated Variants: 5 Number of Heteroplasmic Sites: 0 Number of Variants with Population Freq: 30 Mean of Coverage: 81733.333 Standard Deviation of Coverage: 60084.609 |
| Variant | Heteroplasmy% | Ref Allele | Alt Allele | AA Position | AA Change | Gene | Disease | Syn/Non-Syn | Pop Freq | Homoplasmy | Heteroplasmy |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8993 | G:95.119 | T | G | 156 | L->R | MT-ATP6 | NARP / Leigh Disease / MILS / other | Non-Synonymous | _ | - | + |
| 11467 | G:99.123 | A | G | 236 | L->L | MT-ND4 | Altered brain pH | Synonymous | 14.103 | + | - |
| 12308 | G:99.192 | A | G | _ | _ | MT-TL2 | CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH | _ | 14.032 | + | + |
| 12372 | A:99.187 | G | A | 12 | L->L | MT-ND5 | Altered brain pH | Synonymous | 15.074 | + | - |
| 15951 | G:98.742 | A | G | _ | _ | MT-TT | LHON modulator | _ | 1.100 | + | - |
| Variant | Heteroplasmy% | Ref Allele | Alt Allele | AA Position | AA Change | Gene | Syn/Non-Syn | SIFT Prediction |
|---|---|---|---|---|---|---|---|---|
| 350 | C:99.020 | T | C | _ | _ | MT-OHR | _ | _ |
| 525 | A:29.268 | C | A | _ | _ | MT-TFH | _ | _ |
| 1458 | G:99.901 | A | G | _ | _ | MT-RNR1 | _ | _ |
| Variant | Heteroplasmy% | Ref Allele | Alt Allele | AA Position | AA Change | Gene | Syn/Non-Syn | Pop Freq |
|---|---|---|---|---|---|---|---|---|
| 73 | G:99.841 | A | G | _ | _ | MT-HV2 | _ | 70.691 |
| 283 | G:99.816 | A | G | _ | _ | MT-TFY | _ | 0.004 |
| 309 | T:31.873 | C | T | _ | _ | MT-OHR | _ | 0.889 |
| 312 | T:13.678 | C | T | _ | _ | MT-OHR | _ | _ |
| 472 | G:99.712 | A | G | _ | _ | MT-HV3 | _ | 0.012 |
| 526 | C:22.208 | G | C | _ | _ | MT-TFH | _ | _ |
| 750 | G:99.858 | A | G | _ | _ | MT-RNR1 | _ | 98.433 |
| 1811 | G:99.890 | A | G | _ | _ | MT-RNR2 | _ | 8.471 |
| 2706 | G:99.857 | A | G | _ | _ | MT-RNR2 | _ | 74.424 |
| 3106 | A:11.344 | C | A | _ | _ | MT-RNR2 | _ | _ |
| 3109 | C:52.262 | T | C | _ | _ | MT-RNR2 | _ | _ |
| 4769 | G:99.871 | A | G | 100 | M->M | MT-ND2 | Synonymous | 97.594 |
| 7028 | T:99.710 | C | T | 375 | A->A | MT-CO1 | Synonymous | 76.066 |
| 8572 | A:99.680 | G | A | 69 | Ter->Ter | MT-ATP8 | Synonymous | 0.277 |
| 8993 | G:95.119 | T | G | 156 | L->R | MT-ATP6 | Non-Synonymous | _ |
| 11368 | C:99.139 | T | C | 203 | F->F | MT-ND4 | Synonymous | 0.058 |
| 11467 | G:99.123 | A | G | 236 | L->L | MT-ND4 | Synonymous | 14.103 |
| 11719 | A:99.685 | G | A | 320 | G->G | MT-ND4 | Synonymous | 72.618 |
| 12308 | G:99.192 | A | G | _ | _ | MT-TL2 | _ | 14.032 |
| 12372 | A:99.187 | G | A | 12 | L->L | MT-ND5 | Synonymous | 15.074 |
| 14766 | T:99.748 | C | T | 7 | T->I | MT-CYB | Non-Synonymous | 72.130 |
| 15326 | G:99.827 | A | G | 194 | T->A | MT-CYB | Non-Synonymous | 98.710 |
| 15951 | G:98.742 | A | G | _ | _ | MT-TT | _ | 1.100 |
| 16092 | C:98.664 | T | C | _ | _ | MT-HV1 | _ | 1.443 |
| 16093 | A:98.649 | T | A | _ | _ | MT-HV1 | _ | 0.004 |
| 16154 | C:98.944 | T | C | _ | _ | MT-HV1 | _ | 0.132 |
| 16206 | C:98.369 | A | C | _ | _ | MT-5 | _ | 0.029 |
| 16230 | G:98.546 | A | G | _ | _ | MT-HV1 | _ | 3.088 |
| 16311 | C:99.046 | T | C | _ | _ | MT-HV1 | _ | 19.324 |
| 16567 | G:15.931 | A | G | _ | _ | _ | _ |