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% | 244.8 / NA | 68 | N118S (AAC→AGC) | scpA | methylmalonyl‑CoA mutase |
Reads supporting (aligned to +/- strand): ref base A (0/0); new base G (33/35); total (33/35) |
GACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCA > NC_000913/3061068‑3061335 | gACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcg > 2:1807212/1‑139 (MQ=255) gACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGACCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcg > 2:1165049/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAACAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcgcgcat > 1:249826/1‑137 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:995458/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 2:1800990/1‑139 (MQ=255) tATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTggcgggcg > 1:1568232/1‑139 (MQ=255) tGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCATGGCGGGCGACGTc < 2:249826/139‑1 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 2:1116214/1‑139 (MQ=255) aGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGc > 1:1200205/1‑139 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:138611/139‑1 (MQ=255) aaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg < 2:1200205/139‑1 (MQ=255) tCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc > 1:347126/1‑132 (MQ=255) tCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc < 2:347126/132‑1 (MQ=255) tCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCg > 1:589445/1‑139 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca > 1:1159418/1‑139 (MQ=255) cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACAcc > 1:1587193/1‑139 (MQ=255) ttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTgg > 1:1537902/1‑139 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa > 2:1120931/1‑139 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 2:589445/139‑1 (MQ=255) aTCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGa < 2:1568232/139‑1 (MQ=255) ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg < 1:403435/107‑1 (MQ=255) ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg > 2:403435/1‑107 (MQ=255) ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 2:476635/125‑1 (MQ=255) ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca > 1:476635/1‑125 (MQ=255) cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:1517348/124‑1 (MQ=255) cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca > 2:1517348/1‑124 (MQ=255) tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTgg > 1:1652887/1‑86 (MQ=255) tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTgg < 2:1652887/86‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc < 1:1638132/105‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc > 2:1638132/1‑105 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt < 2:1159418/139‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt < 2:1537902/139‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt > 2:62319/1‑139 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 2:1984370/1‑119 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 1:1984370/119‑1 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGtt < 1:1165049/139‑1 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGtt < 2:995458/139‑1 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 1:691584/1‑139 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 1:1023827/1‑139 (MQ=255) cAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGa < 2:691584/139‑1 (MQ=255) aGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:1116214/139‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTgg > 1:1174995/1‑103 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTgg < 2:1174995/103‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 2:90872/1‑102 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 1:90872/102‑1 (MQ=255) tttCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGa < 1:1120931/139‑1 (MQ=255) tGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGt > 1:737195/1‑78 (MQ=255) tGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGt < 2:737195/78‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 1:1955623/139‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 2:938588/139‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 2:236204/139‑1 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 1:1800990/139‑1 (MQ=255) cGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACg < 2:1538074/40‑1 (MQ=255) cGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACg > 1:1538074/1‑40 (MQ=255) cGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATg > 2:1618299/1‑139 (MQ=255) gTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATgg < 1:62319/139‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc > 2:1800018/1‑139 (MQ=255) ggCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcg < 2:1023827/139‑1 (MQ=255) ggCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcg < 1:1618299/139‑1 (MQ=255) gCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 1:407159/1‑92 (MQ=255) gCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc < 2:407159/92‑1 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCa < 1:1807212/139‑1 (MQ=255) ccGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGAGGACCATGAATGGCGCAGTGCTAcc < 1:1393065/139‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg < 1:1216031/44‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg > 2:1216031/1‑44 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc < 2:1303916/127‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCa > 2:133953/1‑139 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTGCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc > 1:1303916/1‑127 (MQ=255) | GACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCA > NC_000913/3061068‑3061335 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |