| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 4,342,135 | C→T | A75A (GCC→GCT) | melA → | alpha‑galactosidase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 4,342,135 | 0 | C | T | 100.0% | 41.3 / NA | 17 | A75A (GCC→GCT) | melA | alpha‑galactosidase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base T (7/10); total (7/10) | |||||||||||
GCATGATGTCTGCACCCAAAATTACATTTATCGGCGCTGGTTCGACGATTTTCGTTAAAAATATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCC > NC_000913/4341909‑4342365 | gaatgattTCTCCACCCAAAATTACATTTACCGGCGCTGGTTCCACGATTTTCTTTAAAAATATTCTGGGTGATGTGTCCCAGCGCGAGCCGCTAAAACCGGCGCTTATTGCCCGGAGGGCAATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGAGTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACATAAAGAAGCTTTAGAGGATGCCGATTTTGTCgt < 1:277144/248‑1 (MQ=255) gtgatgtacacACCCAAAATTTAATTTATCGGTGCTGGTCCGAAGTTTTGCTGTAAAAATCTTCTTGGGGGTGTGTTCCATCGCGAGGCCCCAAAAACGGCGCATATTGCCCTGAGGGACATTGACCCCGCCCGCCTGGAAGATTCGCATATTGTGGGGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACCCCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCgtggn < 1:78639/241‑2 (MQ=255) ngTTCGACGATTTTCGTTAAAAATATTATTGGTGATGTGATCCATCGCGAGGCGCTGAAAACGACGCATATTGCCCTGATGGACATTCGCCACCCCCCCCTGGAAGAGTCGCATATTGTGGTGCGGAAGATGATGGATTCAGCAGGGGCCAGCGGCCAACTTACATGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGACggctaagatcattgtaaggg > 1:33974/2‑233 (MQ=255) tttCGTTAAAAATATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTc < 1:146162/250‑1 (MQ=255) ggCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGGGACTGATTTT‑GAGGTCTGTAAGCGGCATGGTCTGGTACAAAACCTTGCCg > 1:324512/1‑251 (MQ=255) gcgcTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTTTTAACCTTTGACGGTGGCTGGTTTCTGGGGT‑TGTTAGCGGCATGGttttgaggtcggaaaaggccc > 1:16497/1‑231 (MQ=255) gttGAAAACGGCCCATATGGCCCGGATGGACATTGCCCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGccn < 1:94664/147‑2 (MQ=255) ncgcATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGTATTTCAGATTGGCGGTTTTGAACCTTGCACGGTGGCTGATTTC‑GAGGGCTGTAAGCGGCATGGGCTGGAACAAACCAtttgcgctaccttgggtcc > 1:28125/2‑234 (MQ=255) cgcATATTGCCCTGATGGACATTAACCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACTGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGTTCTGGAACAAACCATTGCCGATACGTTGGGGCCg < 1:274604/251‑1 (MQ=255) cATATTGTGGGGCGTAAGCTGATGGATTCAGCAGCGGCCAGCTGCAAAATCACCTGCCACGCCCAACAGAAAGAAGCTTGAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTTGCGGGTATGAACCTTGCCCGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGGCTGGAAc < 1:120447/178‑1 (MQ=255) tgtgGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCAGTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCTATACGTTGGGGCCGTGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGc < 1:283761/250‑1 (MQ=255) gCGTAAGCTGATGGAGTCAGCAGGGGCCAGCGGCAAAATCCCCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGAGTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGTCTgg < 1:233338/164‑1 (MQ=255) gTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTNNTGGCATNNc > 2:961/1‑99 (MQ=255) gTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAg < 1:961/149‑1 (MQ=255) ggggCCAGCGGCAAAATCTCCTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTNc < 1:256025/222‑1 (MQ=255) cTGCCACACCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGGGACTGATTTC‑GAgggct > 1:4872/1‑101 (MQ=255) cacaCCCAACAGAAAGAAGCTTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAAATTGCACGGTGACTGATTTA‑GAGGGCTGTAAAAGGCATGGTCCGGGACAAAACATTGCCGATACGTTTAGGACGGGGGGGATTATGCCCGCGCTTCGTAACATTCCGCCTCTGTGGGAAATTTGCGAGGACATGACGGCAGTCTGCCCCGGTGCCCCCAAGCTCCACTATGTTAAccc > 1:323795/1‑251 (MQ=255) | GCATGATGTCTGCACCCAAAATTACATTTATCGGCGCTGGTTCGACGATTTTCGTTAAAAATATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTC‑GAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCC > NC_000913/4341909‑4342365 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 24 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |