Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913 4,342,595 G→A A229T (GCT→ACT)  melA → alpha‑galactosidase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0009134,342,5950GA88.9% 17.4 / NA 9A229T (GCT→ACT) melAalpha‑galactosidase
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base A (3/5);  minor base C (1/0);  total (4/5)
Fisher's exact test for biased strand distribution p-value = 4.44e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

ACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGA  >  NC_000913/4342353‑4342799
                                                                                                                                                                                                                                                   |                                                                                                                                                                                                            
aCTATGTTAACACAATGGCGATGAATACATGGGCGATGGATGCCCGCTATCAGCATATCAAACAGGTCGGGCTGTGCCATTCGGAGCAGGGAAGGGCGAAAGAGTTGGCGCGTGACCTCAATATAGACAAAGCTACGCTGAGTTACCGTTGCGCAGGTATAAACCATATGGCGTTTTACCTGGCGCTGGAGCGCAACACCGCCGACGGCAGTTATGTGAATATCTACCCAGAACTGCTGGCGCCTTATGa                                                                                                                                                                                                       >  1:219921/1‑250 (MQ=255)
                                                              cAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTACATATCGAACCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTCCCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTATACCCAGCACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATCTTCATGGCAATACTCGCTGCCAGAATATTGTGCGCt                                                                                                                                         >  1:320227/1‑250 (MQ=255)
                                                                         gtgCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTc                                                                                                                              >  1:274354/1‑250 (MQ=255)
                                                                                tCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGCCCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGc                                                                                                                       <  1:21879/250‑1 (MQ=255)
                                                                                               gcgaaaGATTTGTCGCGTGCCCTCAATTCCGACCCAGCTCCGCTCCGTACCTTTTGCGCAGATATCAACCATTTGGCTTTTTACCTGTAGCTGGACCGCAAACCCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGTCTCCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCTTCAc                                                                                                       <  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)
                                                                                                                                                                                                                                  acccaggaCTGCTGGCGACTTATGAAGCAGGGCAGGCAACGAAGCCGAATATGCATGGCAATACTCGCGGCCAGAATAGTGTGCGCTACGAAATGTTCAAAAAGCTGGGCGAGTTCGTCACGGAATCGTCAGAACATTTTGTTGATTACACACCGTGGTTTATTAAGCCAGGGCGTGAGGATTTGATTGAGCGTTATAAAGTACCACTGGATg           <  1:225369/206‑1 (MQ=255)
                                                                                                                                                                                                                                                   |                                                                                                                                                                                                            
ACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGA  >  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: