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% | 260.4 / NA | 72 | N118S (AAC→AGC) | scpA | methylmalonyl‑CoA mutase |
Reads supporting (aligned to +/- strand): ref base A (0/0); new base G (35/37); total (35/37) |
TCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCAG > NC_000913/3061073‑3061336 | tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 2:165030/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:400184/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:168053/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:1518024/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCAGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 2:589827/1‑139 (MQ=255) cAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTggcgg < 1:1373570/139‑1 (MQ=255) tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc > 1:1523224/1‑139 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 1:1373843/1‑139 (MQ=255) cAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg < 2:400184/139‑1 (MQ=255) cAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg < 2:8580/139‑1 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:1015298/139‑1 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 2:564059/139‑1 (MQ=255) gTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATc > 2:1251166/1‑139 (MQ=255) ccAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 2:1286157/139‑1 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 2:1373843/139‑1 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:178419/139‑1 (MQ=255) cTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGt < 1:895191/139‑1 (MQ=255) tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 2:1523224/139‑1 (MQ=255) tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 2:454177/1‑139 (MQ=255) ttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTgg < 2:905071/139‑1 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 1:883148/139‑1 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 1:1251166/139‑1 (MQ=255) cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGa > 2:1398617/1‑139 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa < 2:722640/86‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa > 1:722640/1‑86 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGcc > 2:937281/1‑69 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 2:1367609/1‑139 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 2:1129899/1‑139 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc < 1:1367609/139‑1 (MQ=255) cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 1:1405281/1‑139 (MQ=255) gggCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt < 1:1349815/133‑1 (MQ=255) gggCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGt > 2:1349815/1‑133 (MQ=255) gggCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAcc > 2:494159/1‑139 (MQ=255) ggCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaaa < 1:695542/89‑1 (MQ=255) ggCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaaa > 2:695542/1‑89 (MQ=255) gTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCt < 1:494159/139‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaaa > 2:1261218/1‑78 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaaa < 1:1261218/78‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGA‑‑‑CGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGa > 2:1200549/1‑137 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGA‑‑‑CGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGa < 1:1200549/137‑1 (MQ=255) ttCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGAt < 2:1405281/139‑1 (MQ=255) tttGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTcc > 2:522899/1‑106 (MQ=255) tttGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTcc < 1:522899/106‑1 (MQ=255) tGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGtt > 1:625421/1‑139 (MQ=255) cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa < 2:1518024/139‑1 (MQ=255) tGCCACCCACCGTGGCTTCGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATg > 2:778583/1‑139 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc > 2:592397/1‑60 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc < 1:592397/60‑1 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc > 2:1227332/1‑99 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAc < 1:1227332/99‑1 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCg > 1:1335041/1‑123 (MQ=255) caccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCg < 2:1335041/123‑1 (MQ=255) gTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc > 2:953573/1‑56 (MQ=255) gTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc < 1:953573/56‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTGCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc < 1:64305/139‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc < 1:778583/139‑1 (MQ=255) gCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa > 2:301703/1‑70 (MQ=255) gCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 1:301703/70‑1 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg > 2:206932/1‑100 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:206932/100‑1 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGt > 1:924320/1‑117 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGt < 2:924320/117‑1 (MQ=255) gACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg > 2:196624/1‑44 (MQ=255) gACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg < 1:196624/44‑1 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATg > 2:1276979/1‑71 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATg < 1:1276979/71‑1 (MQ=255) tCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTAc < 1:454177/139‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCa > 2:534590/1‑139 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCa > 1:456170/1‑139 (MQ=255) gATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:755143/90‑1 (MQ=255) gATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg > 2:755143/1‑90 (MQ=255) gATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCAg < 1:1129899/139‑1 (MQ=255) | TCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCAG > NC_000913/3061073‑3061336 |
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: ‑ |