Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913 4,342,094 +G coding (184/1356 nt) melA → alpha‑galactosidase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0009134,342,0901.G100.0% 197.3 / NA 54A60A (GCA→GCGmelAalpha‑galactosidase
Reads supporting (aligned to +/- strand):  ref base . (0/0);  new base G (29/25);  total (29/25)

AAATATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCA  >  NC_000913/4341967‑4342224
                                                                                                                             |                                                                                                                                      
aaaTATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCaaa                                                                                                                         >  2:230949/1‑140 (MQ=255)
     tttttGGTGTTGTGTTCCATCGCGGGGGGCTAAAAACGGCGAATTTTGCCCTGAGGGACATTGCCCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAGGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCAc                                                                                                                    <  2:395335/137‑1 (MQ=255)
     tttttGGTGATGTTTTCCACCGCGAGGCGCTAAAAACGGCGCATATTCCCCTGATGGACATTGCCCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCAc                                                                                                                    <  2:202014/137‑1 (MQ=255)
     ttCTTGGTGATGTGTCCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGCCCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCAc                                                                                                                    <  2:322317/140‑1 (MQ=255)
             gATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCcaca                                                                                                            >  2:36000/1‑140 (MQ=255)
               tgttTTCCATCGGGGGCCCTTAAAACGGGCGTATATTGCCCGGATGGACATTCACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTAAGCAGGGGGCCAGCGGCAAAATCACCTGCCACAcc                                                                                                          <  2:648159/140‑1 (MQ=255)
               tgtgTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACAcc                                                                                                          >  1:613924/1‑140 (MQ=255)
               tgtgTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACAcc                                                                                                          >  2:448761/1‑140 (MQ=255)
               tgtgTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACAcc                                                                                                          >  2:737975/1‑140 (MQ=255)
                  gtTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCaa                                                                                                       >  2:533440/1‑140 (MQ=255)
                  gtTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCaa                                                                                                       >  1:679903/1‑140 (MQ=255)
                      cATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTAGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACaga                                                                                                   >  1:202335/1‑140 (MQ=255)
                        tCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaa                                                                                                 >  1:163746/1‑140 (MQ=255)
                          gcgGGGCGCTAAAACCGGCGCATTTTGCCCTGATGGACATGGCCCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaaga                                                                                               <  1:642846/140‑1 (MQ=255)
                           cgAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaagaa                                                                                              >  1:323409/1‑140 (MQ=255)
                           cgAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaag                                                                                                >  2:808339/1‑138 (MQ=255)
                           cgAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaag                                                                                                <  1:808339/138‑1 (MQ=255)
                             aGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGCCCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaaga                                                                                               <  1:944078/137‑1 (MQ=255)
                             aGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACagaaaga                                                                                               >  2:944078/1‑137 (MQ=255)
                             aGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGc                                                                                            >  2:828180/1‑140 (MQ=255)
                             aGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGc                                                                                            >  1:133943/1‑140 (MQ=255)
                             aGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGc                                                                                            >  2:670583/1‑140 (MQ=255)
                                cgcTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCtt                                                                                         >  1:451728/1‑140 (MQ=255)
                                  taaaaaaCGGCGATTTTTCCCTTGTTGAACATTGCCCCCCCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTag                                                                                       <  2:451728/137‑1 (MQ=255)
                                             cgcATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGa                                                                             <  2:323409/140‑1 (MQ=255)
                                                           aTGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGtggtgg                                                               <  2:679903/140‑1 (MQ=255)
                                                                cATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCAttt                                                          >  1:163887/1‑140 (MQ=255)
                                                                 aTTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTc                                                         >  1:114509/1‑140 (MQ=255)
                                                                     cccccccccGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGAt                                                     <  1:828180/139‑1 (MQ=255)
                                                                     aCCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGAt                                                     >  1:260533/1‑140 (MQ=255)
                                                                        ccccccGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTgg                                                  <  1:856199/137‑1 (MQ=255)
                                                                        ccccccGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTgg                                                  <  1:448761/137‑1 (MQ=255)
                                                                        ccACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGAAAAATCCCCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTgg                                                  <  1:225584/140‑1 (MQ=255)
                                                                         cACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGc                                                 <  2:260533/140‑1 (MQ=255)
                                                                         cACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGc                                                 <  1:533440/140‑1 (MQ=255)
                                                                          aCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGTAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCg                                                >  2:623384/1‑140 (MQ=255)
                                                                          aCCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCg                                                >  1:164129/1‑140 (MQ=255)
                                                                           cccGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCgg                                               >  1:270676/1‑140 (MQ=255)
                                                                               ccTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTAt                                           >  1:355441/1‑140 (MQ=255)
                                                                                         tCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCa                                 <  2:448642/140‑1 (MQ=255)
                                                                                            cATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACgg                              <  2:163887/140‑1 (MQ=255)
                                                                                             atatTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCACggg                             >  2:152071/1‑139 (MQ=255)
                                                                                               atTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGa                           <  2:114509/140‑1 (MQ=255)
                                                                                                ttGTGGTGCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGAc                          <  1:737975/140‑1 (MQ=255)
                                                                                                      tgCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACg                               >  2:457303/1‑129 (MQ=255)
                                                                                                      tgCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACg                               <  1:457303/129‑1 (MQ=255)
                                                                                                       gCGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTc                   <  2:163746/140‑1 (MQ=255)
                                                                                                        cGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCg                  >  1:782493/1‑140 (MQ=255)
                                                                                                        cGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCg                  <  1:670583/140‑1 (MQ=255)
                                                                                                        cGTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGGGACTGATTTCg                  >  1:42203/1‑140 (MQ=255)
                                                                                                         gTAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCGTTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGa                 >  1:300255/1‑140 (MQ=255)
                                                                                                          tAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAg                <  2:164129/140‑1 (MQ=255)
                                                                                                          tAAGCTGATGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTTCACCGGGACTGAtttttag                >  1:964276/1‑136 (MQ=255)
                                                                                                                  tGGATTCAGCAGGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTaa        <  2:782493/140‑1 (MQ=255)
                                                                                                                        cagcagGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGTGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCa  <  1:36000/140‑1 (MQ=255)
                                                                                                                             |                                                                                                                                      
AAATATTCTTGGTGATGTGTTCCATCGCGAGGCGCTGAAAACGGCGCATATTGCCCTGATGGACATTGACCCCACCCGCCTGGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCA  >  NC_000913/4341967‑4342224

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: