| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 4,342,582 | G→A | P224P (CCG→CCA) | melA → | alpha‑galactosidase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 4,342,582 | 0 | G | A | 100.0% | 17.0 / NA | 8 | P224P (CCG→CCA) | melA | alpha‑galactosidase |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base A (4/4); total (4/4) | |||||||||||
ACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTT‑GCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGA > NC_000913/4342353‑4342799 | aCTATGTTAACACAATGGCGATGAATACATGGGCGATGGATGCCCGCTATCAGCATATCAAACAGGTCGGGCTGTGCCATTCGGAGCAGGGAAGGGCGAAAGAGTTGGCGCGTGACCTCAATATAGACAAAGCTACGCTGAGTTACCGTT‑GCGCAGGTATAAACCATATGGCGTTTTACCTGGCGCTGGAGCGCAACACCGCCGACGGCAGTTATGTGAATATCTACCCAGAACTGCTGGCGCCTTATGa > 1:219921/1‑250 (MQ=255) cAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTACATATCGAACCAGCTACGCTGCGTTACCGTT‑GCGCAGGTATCAACCATATGGCGTTTTCCCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTATACCCAGCACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATCTTCATGGCAATACTCGCTGCCAGAATATTGTGCGCt > 1:320227/1‑250 (MQ=255) gtgCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTT‑GCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTc > 1:274354/1‑250 (MQ=255) tCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGCCCCAGCTACGCTGCGTTACCGTT‑GCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGc < 1:21879/250‑1 (MQ=255) gcgaaaGATTTGTCGCGTGCCCTCAATTCCGACCCAGCTCCGCTCCGT‑ACCTTTTGCGCAGATATCAACCATTTGGCTTTTTACCTGTAGCTGGACCGCAAACCCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGTCTCCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCTTCAc < 1:234810/247‑1 (MQ=255) ggCGTTTTACCGGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAGTACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGt < 1:113419/250‑1 (MQ=255) aCCGCCGACGGCAGTTATGTGAATCTCTACACAGAACTGATGGAGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTAATGGAAATACTCGCTGCAAGAATATTGTGCGCTACGACATGATCCAAACGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGGACCGATGGATGAggacacga > 1:125194/1‑243 (MQ=255) ccgACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACgg < 1:184232/147‑1 (MQ=255) | ACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTT‑GCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGA > NC_000913/4342353‑4342799 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 26 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |