Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913 3,153,311 G→A R359H (CGC→CAC)  metC → cystathionine beta‑lyase/L‑cysteine desulfhydrase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0009133,153,3110GA100.0% 209.7 / NA 63R359H (CGC→CAC) metCcystathionine beta‑lyase/L‑cysteine desulfhydrase
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (34/29);  total (34/29)

TGTGCTTAAGAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCGCCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACTTTTGGACAATT  >  NC_000913/3153174‑3153444
                                                                                                                                         |                                                                                                                                     
tgtgCTTAAGAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCAcc                                                                                                                                     >  2:346728/1‑140 (MQ=255)
tgtgCTTAAGAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCAcc                                                                                                                                     <  2:587417/140‑1 (MQ=255)
  tgCTTAAGAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCca                                                                                                                                   >  2:217601/1‑140 (MQ=255)
         gAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCca                                                                                                                                   <  1:433701/133‑1 (MQ=255)
         gAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGAGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCca                                                                                                                                   >  2:433701/1‑133 (MQ=255)
                   aataatGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGAttt                                                                                                                  >  1:91961/1‑140 (MQ=255)
                      aatGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCGTGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAg                                                                                                               <  2:628592/140‑1 (MQ=255)
                            gagCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGAc                                                                                                         <  1:321315/140‑1 (MQ=255)
                                 ggCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCg                                                                                                             >  1:737313/1‑131 (MQ=255)
                                 ggCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCg                                                                                                             <  2:737313/131‑1 (MQ=255)
                                 ggCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGa                                                                                                    >  1:265814/1‑140 (MQ=255)
                                  gcgcACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGc                                                                                                              <  2:494750/129‑1 (MQ=255)
                                  gCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGc                                                                                                              >  1:494750/1‑129 (MQ=255)
                                  gCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGAt                                                                                                   >  2:221871/1‑140 (MQ=255)
                                   cGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGAtt                                                                                                  <  2:385747/140‑1 (MQ=255)
                                      aCTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGc                                                                                               <  1:221871/140‑1 (MQ=255)
                                         aTCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTg                                                                                            <  2:295760/140‑1 (MQ=255)
                                          tCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGc                                                                                           >  1:67477/1‑140 (MQ=255)
                                             ggATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCata                                                                                        <  1:611610/140‑1 (MQ=255)
                                             ggATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCata                                                                                        <  2:91961/140‑1 (MQ=255)
                                                 aaCTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTgg                                                                                    >  2:117264/1‑140 (MQ=255)
                                                  aCTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGt                                                                                   >  1:718402/1‑140 (MQ=255)
                                                  aCTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGt                                                                                   >  2:150202/1‑140 (MQ=255)
                                                   cTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGGATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTc                                                                                  >  2:423493/1‑140 (MQ=255)
                                                    ttCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCt                                                                                             <  2:319895/128‑1 (MQ=255)
                                                    ttCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCt                                                                                             >  1:319895/1‑128 (MQ=255)
                                                    ttCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGAGGGACCTTGATTCGCCTGCATATTGGTCt                                                                                 >  2:381235/1‑140 (MQ=255)
                                                      cAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTgg                                                                               <  1:217601/140‑1 (MQ=255)
                                                        gTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGaa                                                                             >  2:485869/1‑140 (MQ=255)
                                                        gTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGaa                                                                             >  1:736791/1‑140 (MQ=255)
                                                          ttATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGa                                                                           <  1:150202/140‑1 (MQ=255)
                                                            aTTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATg                                                                         >  1:142983/1‑140 (MQ=255)
                                                             ttCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATgg                                                                        >  1:730615/1‑139 (MQ=255)
                                                                 gCATGGCCTACTTGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTcgac                                                                    >  1:666271/1‑140 (MQ=255)
                                                                  cATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTcgacg                                                                   >  2:450785/1‑140 (MQ=255)
                                                                       ccTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTg                                                              >  2:239335/1‑140 (MQ=255)
                                                                            tCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGc                                                         >  2:232659/1‑140 (MQ=255)
                                                                               tGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGa                                                      >  1:278945/1‑140 (MQ=255)
                                                                                ggggCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGAt                                                     >  1:235383/1‑140 (MQ=255)
                                                                                ggggCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGAt                                                     >  1:258224/1‑140 (MQ=255)
                                                                                   gCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTg                                                  <  1:239335/140‑1 (MQ=255)
                                                                                   gCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTg                                                  >  2:375317/1‑140 (MQ=255)
                                                                                                 ttGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTgc                                    >  2:428615/1‑140 (MQ=255)
                                                                                                 ttGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTgc                                    >  1:327242/1‑140 (MQ=255)
                                                                                                  tGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGAGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTgcg                                   <  1:381235/140‑1 (MQ=255)
                                                                                                    aTCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGcgcg                                 <  1:346728/140‑1 (MQ=255)
                                                                                                    aTCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGcgcg                                 <  1:428615/140‑1 (MQ=255)
                                                                                                    aTCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGcgcg                                 <  1:485869/140‑1 (MQ=255)
                                                                                                    aTCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGcgcg                                 <  1:574575/140‑1 (MQ=255)
                                                                                                     tCCTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGa                                <  2:258224/140‑1 (MQ=255)
                                                                                                      ccTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGaa                               <  2:327242/140‑1 (MQ=255)
                                                                                                      ccTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGaa                               <  2:730615/140‑1 (MQ=255)
                                                                                                      ccTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGaa                               <  2:666271/140‑1 (MQ=255)
                                                                                                      ccTGGCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTCCATATGGGTCTGGAAGATGTCGCCAATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGaa                               <  2:265814/140‑1 (MQ=255)
                                                                                                         ggCAAATCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTg                            >  1:265034/1‑140 (MQ=255)
                                                                                                            aaaTCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGtat                         <  1:375317/140‑1 (MQ=255)
                                                                                                            aaaTCAACCAGAACATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGtat                         <  1:117264/140‑1 (MQ=255)
                                                                                                                         cATATCGCCGCCATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACtt            <  1:577264/140‑1 (MQ=255)
                                                                                                                                ccgccATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACTTTTGGACa     >  2:785633/1‑140 (MQ=255)
                                                                                                                                 cgccATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAAc                      <  1:217008/122‑1 (MQ=255)
                                                                                                                                 cgccATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAAc                      >  2:217008/1‑122 (MQ=255)
                                                                                                                                 cgccATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACTTTTGGACaa    >  1:27664/1‑140 (MQ=255)
                                                                                                                                   ccATTCACCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACTTTTGGACAAtt  >  1:392866/1‑140 (MQ=255)
                                                                                                                                         |                                                                                                                                     
TGTGCTTAAGAAAAAACTCAATAATGAAGAGCTGGCGAACTATCTGGATAACTTCAGTTTATTCAGCATGGCCTACTCGTGGGGCGGGTATGAATCGTTGATCCTGGCAAATCAACCAGAACATATCGCCGCCATTCGCCCACAAGGCGAGATCGATTTTAGCGGGACCTTGATTCGCCTGCATATTGGTCTGGAAGATGTCGACGATCTGATTGCCGATCTGGACGCCGGTTTTGCGCGAATTGTATAACATTGCCACTTTTGGACAATT  >  NC_000913/3153174‑3153444

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: