| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | AM260479 | 1,492,923 | T→C | L191L (TTG→CTG) | pdhB → | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | AM260479 | 1,492,923 | 0 | T | C | 100.0% | 37.8 / NA | 11 | L191L (TTG→CTG) | pdhB | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
| Reads supporting (aligned to +/- strand): ref base T (0/0); new base C (7/4); total (7/4) | |||||||||||
ACCATCAACGCCGAAGACGCCGTGGTGACGCTGGAGTCCGACAAGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGTTGCTGCTGATCCTGGAAGGCGCCGCCGCATCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCA > AM260479/1492794‑1493042 | acCATCAACGCCGAAGACGCCGTGGTGACGCTGGAGTCCGACAAGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCtg > 1:290841/1‑132 (MQ=255) cGCCGTGGTGACGCTGGAGTCCGACAAGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGgcg > 2:616222/1‑134 (MQ=255) cGACAAGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCg < 1:914415/133‑1 (MQ=255) aGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCt > 2:1012401/1‑134 (MQ=255) caccaTGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTgccg > 1:166916/1‑134 (MQ=255) cgccgcAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCAccggctccg > 2:423896/1‑134 (MQ=255) ggtcGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAg < 1:1012401/134‑1 (MQ=255) ggtcGGTGACAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAg < 2:166916/134‑1 (MQ=255) aCAACGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAgccgccgcc > 1:833452/1‑134 (MQ=255) aaCGTCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGcccc < 1:423896/134‑1 (MQ=255) tCGCCGAAGGCACGCTGCTGCTGATCCTGGAAGGCGCCGCCGCAGCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCa > 1:1112345/1‑134 (MQ=255) | ACCATCAACGCCGAAGACGCCGTGGTGACGCTGGAGTCCGACAAGGCCACCATGGACGTGCCGTCGCCGCAAGGCGGCGTGGTCAAGGAAGTCAAGGTCAAGGTCGGTGACAACGTCGCCGAAGGCACGTTGCTGCTGATCCTGGAAGGCGCCGCCGCATCAGCCGCCCCGGCAGCTGCCGCCGCGGCACCGGCTCCGGCTGCCAGCGCGCCCGCACCGGCACCGGCCCCCGCAGCCGCCGCCCCGGCA > AM260479/1492794‑1493042 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |