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% | 259.6 / NA | 73 | N118S (AAC→AGC) | scpA | methylmalonyl‑CoA mutase |
Reads supporting (aligned to +/- strand): ref base A (0/0); new base G (35/38); total (35/38) |
TGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTAC > NC_000913/3061066‑3061333 | tGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGcc > 1:874112/1‑139 (MQ=255) cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcgcgc > 2:946469/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:677271/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 2:1013235/1‑139 (MQ=255) tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTGTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGTCCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt > 1:649448/1‑139 (MQ=255) gTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTggcgggc < 1:946469/139‑1 (MQ=255) tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc > 2:327441/1‑139 (MQ=255) tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc > 1:1263988/1‑139 (MQ=255) gTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCgg > 2:927609/1‑139 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 2:177391/1‑139 (MQ=255) tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCaa > 2:1758418/1‑139 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 1:201259/1‑139 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:1013235/139‑1 (MQ=255) gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:1234460/139‑1 (MQ=255) aaaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc < 2:1263988/139‑1 (MQ=255) ccAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 1:387545/139‑1 (MQ=255) cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 2:1024242/128‑1 (MQ=255) cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 1:1024242/1‑128 (MQ=255) cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa > 2:1880674/1‑138 (MQ=255) cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 1:1880674/138‑1 (MQ=255) aaCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca < 1:338933/139‑1 (MQ=255) cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACAcc > 1:1771546/1‑139 (MQ=255) cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACAcc > 1:789979/1‑139 (MQ=255) tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 2:874112/139‑1 (MQ=255) ttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTgg < 1:838357/139‑1 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa > 1:629942/1‑139 (MQ=255) tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa < 1:1722220/139‑1 (MQ=255) aTCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGa < 2:629942/139‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 2:62670/120‑1 (MQ=255) gccgccGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 1:62670/1‑120 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg > 2:1434681/1‑96 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg < 1:1434681/96‑1 (MQ=255) ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGtt < 1:177391/139‑1 (MQ=255) ccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGa < 1:455814/139‑1 (MQ=255) aGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 2:510530/139‑1 (MQ=255) aGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:327441/139‑1 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 2:1225607/1‑102 (MQ=255) cTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 1:1225607/102‑1 (MQ=255) tGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGt > 1:490551/1‑108 (MQ=255) tGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGt < 2:490551/108‑1 (MQ=255) tGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATg > 1:1673217/1‑139 (MQ=255) gTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCg < 2:1673217/139‑1 (MQ=255) tttGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCgg > 1:575661/1‑139 (MQ=255) gACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcg > 1:1438183/1‑39 (MQ=255) gACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcg < 2:1438183/39‑1 (MQ=255) ccTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 2:1011644/68‑1 (MQ=255) ccTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 1:1011644/1‑68 (MQ=255) tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg > 1:1178309/1‑115 (MQ=255) tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 2:1178309/115‑1 (MQ=255) gCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGTCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTc < 2:1271601/96‑1 (MQ=255) gCCACCCACCGTGGCTACGACTCCCATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTc > 1:1271601/1‑96 (MQ=255) cacccaccGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGAcc < 2:575661/139‑1 (MQ=255) cGTGGCTACGACTCCGATAGCCCGCGCGTggcgggc > 2:1479011/1‑36 (MQ=255) cGTGGCTACGACTCCGATAGCCCGCGCGTggcgggc < 1:1479011/36‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg > 1:573829/1‑103 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 2:573829/103‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc < 2:789979/139‑1 (MQ=255) tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc > 1:474957/1‑139 (MQ=255) ggCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcg < 2:201259/139‑1 (MQ=255) cTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCa < 2:677271/139‑1 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 1:1200697/57‑1 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa > 2:1200697/1‑57 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 1:1862684/64‑1 (MQ=255) cGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 2:1862684/1‑64 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg > 2:917806/1‑45 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg < 1:917806/45‑1 (MQ=255) aCTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCt > 1:766727/1‑139 (MQ=255) tCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTAc < 2:934730/139‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa > 1:484405/1‑51 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa < 2:484405/51‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg < 2:828025/58‑1 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg > 1:828025/1‑58 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg > 2:348944/1‑91 (MQ=255) cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCg < 1:348944/91‑1 (MQ=255) | TGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTAC > NC_000913/3061066‑3061333 |
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: ‑ |