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% | 73.3 / NA | 20 | 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 (8/12); total (8/12) |
ACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAT > AM260479/1493187‑1493434 | aCCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCg > 2:649648/1‑134 (MQ=255) cAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCg < 1:693569/133‑1 (MQ=255) cAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGa < 2:495774/134‑1 (MQ=255) aGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGa > 1:271872/1‑133 (MQ=255) aGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGa > 2:668008/1‑133 (MQ=255) aGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTCCACCCGCTTCGGCGAGGTCGaa < 1:914721/134‑1 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGc < 1:142249/121‑1 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGc > 2:142249/1‑121 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTcgc < 1:456917/134‑1 (MQ=255) gaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATc > 2:886462/1‑133 (MQ=255) cacaGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTg < 1:668008/134‑1 (MQ=255) gccgccGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCg < 2:727636/134‑1 (MQ=255) cgccgcGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCa < 1:649648/134‑1 (MQ=255) gcgcCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCg < 1:970925/121‑1 (MQ=255) gcgcCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCg > 2:970925/1‑121 (MQ=255) cGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATcc < 2:271872/134‑1 (MQ=255) cGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATcc < 1:42915/134‑1 (MQ=255) gCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGt < 2:1074713/133‑1 (MQ=255) ctgcCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACg > 1:234736/1‑133 (MQ=255) cGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAt > 2:1105212/1‑133 (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 < 35 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |