Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 3,061,202 | A→G | N118S (AAC→AGC) | scpA → | methylmalonyl‑CoA mutase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 3,061,202 | 0 | A | G | 100.0% | 212.5 / NA | 59 | N118S (AAC→AGC) | scpA | methylmalonyl‑CoA mutase |
Reads supporting (aligned to +/- strand): ref base A (0/0); new base G (26/33); total (26/33) |
CATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCT > NC_000913/3061071‑3061331 | cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcgcgc < 2:864577/139‑1 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 2:756268/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:356571/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:1328468/1‑139 (MQ=255) cGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTgg < 2:1076565/139‑1 (MQ=255) tATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTggcgggcg > 2:709120/1‑139 (MQ=255) gCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACg < 1:902330/139‑1 (MQ=255) gCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACg > 2:1175587/1‑139 (MQ=255) cTGGTTTTTCAACAGCAAAAGAGTACAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTgg > 1:685090/1‑129 (MQ=255) cTGGTTTTTCAACAGCAAAAGAGTACAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTgg < 2:685090/129‑1 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 1:123570/1‑139 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 2:761455/1‑139 (MQ=255) aaCAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCg < 1:709120/139‑1 (MQ=255) cAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg < 1:830048/139‑1 (MQ=255) aGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGc > 1:767411/1‑139 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 2:452175/1‑139 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 2:137830/139‑1 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCACCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 1:822263/1‑139 (MQ=255) aaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg < 2:904709/139‑1 (MQ=255) tCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCg > 1:1176114/1‑139 (MQ=255) cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGac > 2:224775/1‑139 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGTGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:950599/139‑1 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:629990/139‑1 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:452175/139‑1 (MQ=255) ttgtATCGCCGTAACCTGGCCACCGAGCAAAATGGTCTTTCCGGTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGGGACGTCGGCAAAGCGGGGGTCGCTATCGATACCGTgg < 2:167998/136‑1 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 2:1176114/139‑1 (MQ=255) ttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGaa < 2:767411/139‑1 (MQ=255) cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 2:242320/112‑1 (MQ=255) cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 1:242320/1‑112 (MQ=255) aaCCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAg < 2:356571/139‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACTGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt > 1:1218290/1‑139 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGtt < 1:1027345/139‑1 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGtt > 1:429416/1‑139 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa > 1:121980/1‑108 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 2:121980/108‑1 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc < 2:822263/139‑1 (MQ=255) aaGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATccc < 2:123570/139‑1 (MQ=255) aGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:756268/139‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa > 2:744218/1‑68 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGGAAGTCCTGTTCGACCAGATCCCGCTgg > 1:64853/1‑139 (MQ=255) cTTTCCATTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa < 1:744218/68‑1 (MQ=255) ccGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATaa > 1:439175/1‑139 (MQ=255) gTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCg < 1:1118697/139‑1 (MQ=255) gACCTTGCCACCCACTGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGttt < 2:1218290/139‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 1:1118459/139‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGCCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 1:761455/139‑1 (MQ=255) cacccaccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGAcc < 2:1328468/139‑1 (MQ=255) ccaccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGa < 2:1285810/104‑1 (MQ=255) ccaccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGa > 1:1285810/1‑104 (MQ=255) gTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGGAAAGCGGGCGTCGCTATCGa < 1:969937/64‑1 (MQ=255) gTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa > 2:969937/1‑64 (MQ=255) ggCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcg < 2:128376/139‑1 (MQ=255) ggCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcg < 1:1175587/139‑1 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 2:440170/1‑47 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:440170/47‑1 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCt > 1:278813/1‑139 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg < 2:121318/44‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg > 1:121318/1‑44 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCt < 2:737957/93‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCt > 1:737957/1‑93 (MQ=255) | CATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCT > NC_000913/3061071‑3061331 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |