Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | AM260479 | 1,493,307 | T→G | F319V (TTC→GTC) | pdhB → | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | AM260479 | 1,493,307 | 0 | T | G | 100.0% | 86.4 / NA | 23 | F319V (TTC→GTC) | pdhB | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
Reads supporting (aligned to +/- strand): ref base T (0/0); new base G (11/12); total (11/12) |
ACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAT > AM260479/1493187‑1493434 | aCCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCg > 1:685002/1‑134 (MQ=255) aGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTc < 2:685002/134‑1 (MQ=255) tCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGcc < 1:544402/134‑1 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCt > 2:805867/1‑134 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCt > 2:1014754/1‑134 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTcgc > 1:926019/1‑134 (MQ=255) tgaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTc < 1:791433/101‑1 (MQ=255) tgaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTc > 2:791433/1‑101 (MQ=255) gaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAtt > 2:901009/1‑89 (MQ=255) gaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAtt < 1:901009/89‑1 (MQ=255) ccgccgCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCg < 1:805867/134‑1 (MQ=255) cgcgCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTg > 2:164674/1‑134 (MQ=255) gcgGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTg > 2:897351/1‑134 (MQ=255) ccGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATc < 1:732888/134‑1 (MQ=255) tggCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACg < 2:926019/134‑1 (MQ=255) ggCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCaccaac < 1:164674/132‑1 (MQ=255) ctgcCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCg > 2:411047/1‑43 (MQ=255) ctgcCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCg < 1:411047/43‑1 (MQ=255) ctgcCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACg > 1:650890/1‑133 (MQ=255) ccGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAg < 1:897351/133‑1 (MQ=255) ccGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGc < 2:650890/134‑1 (MQ=255) gTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCg > 2:654057/1‑133 (MQ=255) ccGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAt < 1:1014754/134‑1 (MQ=255) | ACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAT > AM260479/1493187‑1493434 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |