Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913 4,342,680 (A)5→4 coding (770/1356 nt) melA → alpha‑galactosidase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0009134,342,6760A.96.7% 116.8 / ‑2.4 30coding (766/1356 nt)melAalpha‑galactosidase
Reads supporting (aligned to +/- strand):  ref base A (0/0);  major base . (13/16);  minor base T (1/0);  total (14/16)
Fisher's exact test for biased strand distribution p-value = 4.67e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAG  >  NC_000913/4342597‑4342748
                                                                               |                                                                        
ttATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCa                                                                          >  2:824610/1‑80 (MQ=255)
     aaGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCaaaagct                                                                    >  2:824623/1‑78 (MQ=255)
         agggcaggCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGc                                                               <  1:824578/81‑1 (MQ=255)
         agggcaggCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGc                                                               <  2:824576/81‑1 (MQ=255)
          gggcaggCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTTAAAAGCTGGGc                                                               >  1:824635/1‑80 (MQ=255)
             caggcaCCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTAtt                                                           <  2:824578/81‑1 (MQ=255)
                   ccGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTTCGCTACTAAATGTTCAAAAGCTGGGCTATTTCGtaa                                                     >  2:824628/1‑79 (MQ=255)
                     gAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACg                                                   >  2:824625/1‑81 (MQ=255)
                      aaGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACgg                                                  <  2:824579/81‑1 (MQ=255)
                      aaGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACg                                                   >  1:824623/1‑80 (MQ=255)
                          cGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATc                                              <  1:824581/81‑1 (MQ=255)
                           gAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCg                                             >  2:824632/1‑81 (MQ=255)
                             atatTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTc                                           <  2:824581/81‑1 (MQ=255)
                                ttCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAg                                         <  2:824582/80‑1 (MQ=255)
                                     ggCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACAtt                                   >  2:824616/1‑81 (MQ=255)
                                      gCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACAttt                                  <  2:824584/81‑1 (MQ=255)
                                      gCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACAtt                                   <  2:824583/80‑1 (MQ=255)
                                       cAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACAtttt                                 <  1:824586/81‑1 (MQ=255)
                                          tACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCt                              >  1:824638/1‑81 (MQ=255)
                                            cTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCt                              >  2:824649/1‑79 (MQ=255)
                                             tCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAg                           >  2:824638/1‑81 (MQ=255)
                                               gCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGt                          <  1:824587/80‑1 (MQ=255)
                                               gCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTa                         >  1:824625/1‑81 (MQ=255)
                                                cTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTac                        <  2:824587/81‑1 (MQ=255)
                                                   ccAGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTacaca                     <  2:824588/81‑1 (MQ=255)
                                                     aGAATATTGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACAcc                   >  1:824643/1‑81 (MQ=255)
                                                           ttGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGtt             <  2:824589/81‑1 (MQ=255)
                                                           ttGTGCGCTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGtt             >  1:824641/1‑81 (MQ=255)
                                                                cgcTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGGATCGTCAGAACATTTTGCTGAGTACACACCGTGGTttatt         <  1:824592/80‑1 (MQ=255)
                                                                cgcTACGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTttatt         <  2:824590/80‑1 (MQ=255)
                                                                     cGAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATAGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGc     >  2:824630/1‑79 (MQ=255)
                                                                      gAAATGTTCAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAg  >  2:824646/1‑81 (MQ=255)
                                                                               |                                                                        
TTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAG  >  NC_000913/4342597‑4342748

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 31 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: