Run ID: 88752c56-7255-4be7-9661-a03e8dfb88d3
Sample name:
Date: 02-04-2024 16:17:40
Number of reads: 433341
Percentage reads mapped: 80.4
Median coverage: 11
Strain: lineage2.2.1
Spoligotype:
Drug-resistance: HR-TB
| Lineage | Family | RDs | Frequency |
|---|---|---|---|
| lineage2 | East-Asian | RD105 | 1.0 |
| lineage2.2 | East-Asian (Beijing) | RD105;RD207 | 1.0 |
| lineage2.2.1 | East-Asian (Beijing) | RD105;RD207;RD181 | 1.0 |
| Drug | Resistance | Supporting mutations | WHO confidence | Comment |
|---|---|---|---|---|
| rifampicin | ||||
| isoniazid | fabG1 | c.-15C>T | Assoc w R | |
| katG | p.Ser315Thr | Assoc w R | ||
| ethambutol | embA | c.-12C>T | Assoc w R | |
| embB | p.Tyr334His | Uncertain significance | ||
| pyrazinamide | ||||
| moxifloxacin | ||||
| levofloxacin | ||||
| bedaquiline | ||||
| delamanid | ||||
| pretomanid | ||||
| linezolid | ||||
| streptomycin | rpsL | p.Lys88Arg | Assoc w R | |
| amikacin | rrs | n.1401A>G | Assoc w R | |
| kanamycin | rrs | n.1401A>G | Assoc w R | |
| capreomycin | rrs | n.1401A>G | Assoc w R | |
| clofazimine | ||||
| ethionamide | fabG1 | c.-15C>T | Assoc w R | |
| para-aminosalicylic_acid | ||||
| cycloserine |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
|---|---|---|---|---|---|---|---|
| rpsL | 781822 | p.Lys88Arg | missense_variant | 1.0 | streptomycin | Assoc w R | |
| rrs | 1473246 | n.1401A>G | non_coding_transcript_exon_variant | 0.94 | kanamycin | Assoc w R | |
| capreomycin | Assoc w R | ||||||
| aminoglycosides | Uncertain significance | ||||||
| amikacin | Assoc w R | ||||||
| fabG1 | 1673425 | c.-15C>T | upstream_gene_variant | 1.0 | isoniazid | Assoc w R | |
| ethionamide | Assoc w R | ||||||
| katG | 2155168 | p.Ser315Thr | missense_variant | 1.0 | isoniazid | Assoc w R | |
| embA | 4243221 | c.-12C>T | upstream_gene_variant | 1.0 | ethambutol | Assoc w R | |
| embB | 4247513 | p.Tyr334His | missense_variant | 1.0 | ethambutol | Uncertain significance |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
|---|---|---|---|---|---|---|
| gyrA | 7362 | p.Glu21Gln | missense_variant | 1.0 | fluoroquinolones | |
| moxifloxacin | Uncertain significance | |||||
| levofloxacin | Uncertain significance | |||||
| ciprofloxacin | ||||||
| ofloxacin | ||||||
| gyrA | 9304 | p.Gly668Asp | missense_variant | 1.0 | fluoroquinolones | |
| moxifloxacin | Uncertain significance | |||||
| levofloxacin | Uncertain significance | |||||
| ciprofloxacin | ||||||
| ofloxacin | ||||||
| fgd1 | 491742 | c.960T>C | synonymous_variant | 1.0 | delamanid | |
| ccsA | 620625 | p.Ile245Met | missense_variant | 1.0 | capreomycin | Uncertain significance |
| amikacin | Uncertain significance | |||||
| rpoC | 763031 | c.-339T>C | upstream_gene_variant | 1.0 | rifampicin | |
| rpoC | 764817 | p.Val483Gly | missense_variant | 1.0 | rifampicin | |
| rpoC | 766645 | p.Glu1092Asp | missense_variant | 1.0 | rifampicin | Uncertain significance |
| mmpL5 | 775871 | c.2610C>T | synonymous_variant | 0.15 | clofazimine | |
| bedaquiline | ||||||
| mmpL5 | 775874 | c.2607C>A | synonymous_variant | 0.15 | clofazimine | |
| bedaquiline | ||||||
| mmpL5 | 776182 | p.Asp767Asn | missense_variant | 1.0 | clofazimine | Uncertain significance |
| bedaquiline | Uncertain significance | |||||
| mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 1.0 | clofazimine | |
| bedaquiline | ||||||
| rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Uncertain significance |
| rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | linezolid | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| aminoglycosides | ||||||
| streptomycin | ||||||
| rrs | 1473314 | n.1469A>C | non_coding_transcript_exon_variant | 0.11 | linezolid | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| aminoglycosides | ||||||
| streptomycin | ||||||
| fabG1 | 1673380 | c.-60C>G | upstream_gene_variant | 0.19 | ethionamide | |
| isoniazid | ||||||
| Rv1979c | 2221894 | p.Val424Gly | missense_variant | 0.14 | clofazimine | |
| bedaquiline | ||||||
| Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | clofazimine | Uncertain significance |
| bedaquiline | Uncertain significance | |||||
| ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
| ald | 3086997 | p.Thr60Gly | missense_variant | 0.17 | cycloserine | |
| ald | 3087532 | p.Ala238Asp | missense_variant | 1.0 | cycloserine | |
| Rv3236c | 3612229 | c.888C>T | synonymous_variant | 1.0 | pyrazinamide | |
| Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 1.0 | pyrazinamide | Uncertain significance |
| embB | 4246555 | c.42G>C | synonymous_variant | 0.3 | ethambutol | |
| embB | 4246556 | p.Ala15Pro | missense_variant | 0.3 | ethambutol | Uncertain significance |
| embB | 4246563 | p.Leu17Trp | missense_variant | 0.2 | ethambutol | Uncertain significance |
| embB | 4246567 | c.54G>T | synonymous_variant | 0.2 | ethambutol | |
| aftB | 4267647 | p.Asp397Gly | missense_variant | 1.0 | capreomycin | Uncertain significance |
| amikacin | Uncertain significance | |||||
| ethA | 4326975 | p.Trp167Arg | missense_variant | 1.0 | ethionamide | Uncertain significance |
| whiB6 | 4338595 | c.-75delG | upstream_gene_variant | 1.0 | streptomycin | Uncertain significance |
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| gid | 4407927 | p.Glu92Asp | missense_variant | 1.0 | streptomycin | Uncertain significance |