| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,987,822 | 2 bp→CG | coding (578‑579/963 nt) | hemC ← | porphobilinogen deaminase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,987,822 | 0 | G | C | 100.0% | 344.7 / NA | 132 | G193A (GGC→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base C (67/65); total (67/65) | |||||||||||
| * | NC_000913 | 3,987,823 | 0 | C | G | 100.0% | 347.9 / NA | 131 | G193A (GGC→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base G (66/65); total (66/65) | |||||||||||
Only 100 of 132 total aligned reads displayed.
ATCATCAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAAGCCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTATT > NC_000913/3987753‑3987892 || atcatcAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAACCTCGGGCGGCAACgcggcg > 1:3370079/1‑76 (MQ=255) tcatcaAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGgcgc < 2:4614600/76‑1 (MQ=255) tcataaAGGCGGCATTCGATACCCACCGCACCTTGTCCTATCGCCGGAAGAGAAATCTCGGGTGGCAACGCGgcgc < 1:3909439/76‑1 (MQ=255) catcaAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGcgcg > 2:2024536/1‑76 (MQ=255) tcaAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGaa > 1:1199764/1‑76 (MQ=255) caAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAAt < 2:3290972/76‑1 (MQ=255) aaGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCCACGCGGCGCGAATa > 2:891167/1‑76 (MQ=255) aaGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTAGGGTGGCAACGCGGCGCGAATa > 2:3223248/1‑76 (MQ=255) aGGCGGCATTCAATCCCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATAc < 1:357692/76‑1 (MQ=255) ggcggcATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACg > 1:928197/1‑76 (MQ=255) ggcgccATTCAATACCCCCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGAGTGGCAACGCGGCGCGAATACg < 1:3196266/76‑1 (MQ=255) gctgcATTCTATCCCCTCCGCGCCTTGTCCTGCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGt < 2:2021419/73‑1 (MQ=255) gcggcATTCAATCCCCCCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGt < 2:672604/76‑1 (MQ=255) gcggcATTAAATCCCCACCGCACCTTGCCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGt < 1:2868133/76‑1 (MQ=255) ggtcATACAATACCCACCGCGCCTTGTGCTGCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTg < 2:1383817/73‑1 (MQ=255) cggcATTCAATCCCCACCGCCCCTTGCCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTg < 2:3675584/76‑1 (MQ=255) ggcATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGa > 1:4291040/1‑76 (MQ=255) ggcATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGa < 2:3628564/76‑1 (MQ=255) cATTCAATACCCCCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACt < 2:1893463/76‑1 (MQ=255) cAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAg > 2:1634322/1‑76 (MQ=255) atccccACCGCCCCTCGTCCTCCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGAc < 1:352534/73‑1 (MQ=255) aTACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGAc > 1:3007783/1‑76 (MQ=255) ccccACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCt < 1:2678802/75‑1 (MQ=255) aCCCACCGCACCTTGTACTACCGCCGGCAGAGAAATCTCGGGTGGCAACGCGGAGCGAATACGTGACTCCAGAACt > 1:2676204/1‑76 (MQ=255) aCCCACCGCACCTTGTACTACCACCGGGAGAGAAATCTCTGGTGGCAACGCGGCGCGCATACGTGACCCCAGCCCt > 2:4144517/1‑76 (MQ=255) cccACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTa > 1:3782166/1‑76 (MQ=255) cccccGCCCCTTGTCCTGCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaa < 2:4308267/73‑1 (MQ=255) cccccGCCCCTTGTCCTCCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaa < 2:258402/73‑1 (MQ=255) ccACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaa > 1:2598718/1‑76 (MQ=255) ccACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaa > 1:136046/1‑76 (MQ=255) cACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaaa > 1:1009597/1‑76 (MQ=255) cACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaaa > 1:1686694/1‑76 (MQ=255) cACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGAGAATACGTGACTCCAGACCTaaa > 1:3440942/1‑76 (MQ=255) acagCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAAGACGTGACTCCAGACCTAAAc > 1:3561519/4‑76 (MQ=255) aCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAAc > 1:999036/1‑76 (MQ=255) aCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAAc > 2:4382746/1‑76 (MQ=255) ccccACCTTGCCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACg < 2:4598691/73‑1 (MQ=255) ccGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGCGACTCCAGACCTAAACg > 1:2217118/1‑76 (MQ=255) cGCCCCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGt < 1:410049/76‑1 (MQ=255) cGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGGGGCAACGCGGCGCGAATACGTGCCTCCACACCTAAACGt > 2:1801925/1‑76 (MQ=255) gccccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtt < 2:1269442/73‑1 (MQ=255) gCACCTGGTCCTCCCGCCGGAAGAGAAGTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGTCCTAAACGtt < 1:1775996/76‑1 (MQ=255) cccccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtt < 1:23624/73‑1 (MQ=255) cACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGttt > 2:3184015/1‑76 (MQ=255) cACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGttt > 2:3448053/1‑76 (MQ=255) cccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtttt < 1:2874437/75‑1 (MQ=255) cccTTGTCATACCGCCGGAAGAGAAATCTCGGGTTGCAACGCGGCTCGCATACGTGACTCCAGACCTAAACGtttt < 1:3223248/75‑1 (MQ=255) aCCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtttt > 1:4750933/1‑76 (MQ=255) ccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTa < 1:1631048/76‑1 (MQ=255) ccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTa < 2:2992122/76‑1 (MQ=255) cTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAg > 2:870709/1‑76 (MQ=255) tggTCCTCCCGCCGGAAGAGAAATCGCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGt < 2:534317/74‑1 (MQ=255) gcccTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTcc < 1:2290607/74‑1 (MQ=255) gTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTcc < 1:3157541/76‑1 (MQ=255) tCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCg > 2:2775584/1‑76 (MQ=255) cTACCGCCGGAAGAGAAATCTCGTGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGCTTTAGTcctcc > 2:2399201/1‑73 (MQ=255) tACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCt > 2:754858/1‑76 (MQ=255) ccgccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTAc < 1:3305437/76‑1 (MQ=255) cgccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACg < 2:1624867/76‑1 (MQ=255) cgccgGAAGAGAAAGCTCGGGTGGGACCGCGGCGCGAATACGTGACTCCAGACCTAACCGTTTTAGTCCGGCTGCg < 2:267731/76‑1 (MQ=255) gccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg < 2:4101226/76‑1 (MQ=255) gcgGGAGAGAAATCTCGGGGGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGc < 2:4824041/75‑1 (MQ=255) ccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGc > 2:3881741/1‑76 (MQ=255) ccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGc > 1:1740101/1‑76 (MQ=255) cgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCa > 1:1357095/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa > 2:2729446/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa < 1:4806616/76‑1 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa > 1:1415094/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa > 2:3086059/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa < 1:2296680/76‑1 (MQ=255) aaGAGGAATCGCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGTCAAGa < 2:4668965/76‑1 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa < 2:4175697/76‑1 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa > 1:4101849/1‑76 (MQ=255) agagAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCa < 2:1754258/72‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat < 2:558716/76‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat > 1:2469324/1‑76 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat > 1:3644292/1‑76 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat < 1:946253/76‑1 (MQ=255) gagaAATCTCGGGGGGCAACGCGGCGCGAATACTTGACTCGAGACCTAAACTACTTAGTCCGGATACGGCCAGAat > 1:4790427/1‑76 (MQ=255) agaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatg > 2:4413530/1‑76 (MQ=255) agaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatg < 1:2606053/76‑1 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat > 1:4107950/1‑76 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat < 1:1953948/76‑1 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat < 1:1043876/76‑1 (MQ=255) tctcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGc > 2:4044377/1‑76 (MQ=255) tcgcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGc < 2:700641/73‑1 (MQ=255) gctcGGGTGGAGACGCGGCGCGAATCAGTGACTCAAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGc < 2:1788519/75‑1 (MQ=255) ctcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCa < 2:1009596/76‑1 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 2:2863619/1‑76 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 2:1261831/1‑76 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt < 1:505813/76‑1 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt < 1:2924503/76‑1 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 1:119048/1‑76 (MQ=255) cGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATc < 2:3209604/76‑1 (MQ=255) cGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATc > 2:2848064/1‑76 (MQ=255) ggTGGCAACGCGGCGCGAATCCGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGt < 1:3790077/76‑1 (MQ=255) ggTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGt > 1:4207529/1‑76 (MQ=255) gTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTa > 2:4369210/1‑76 (MQ=255) gTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTa < 2:928196/76‑1 (MQ=255) ggCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTAtt < 2:2982436/76‑1 (MQ=255) || ATCATCAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAAGCCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTATT > NC_000913/3987753‑3987892 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 20 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |