Run ID: SRR1013581
Sample name:
Date: 2024-04-15T12:15:29.453012
Number of reads: 656053
Percentage reads mapped: 14.69
Median coverage: 15.0
Strain: lineage2.2.1
Spoligotype:
Drug-resistance: Pre-XDR-TB
| Lineage | Family | RDs | Frequency |
|---|---|---|---|
| lineage2 | East-Asian | RD105 | 0.71 |
| lineage2.2.1 | East-Asian (Beijing) | RD105;RD207;RD181 | 0.66 |
| lineage2.2 | East-Asian (Beijing) | RD105;RD207 | 1.0 |
| Drug | Resistance | Supporting mutations | WHO confidence | Comment |
|---|---|---|---|---|
| rifampicin | rpoB | p.His445Tyr | Assoc w R | |
| isoniazid | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
| ahpC | c.-81C>T | Uncertain significance | Mutation from literature | |
| ethambutol | ||||
| pyrazinamide | pncA | c.75_79dupCGCGC | Assoc w R | |
| streptomycin | ||||
| fluoroquinolones | ||||
| moxifloxacin | gyrB | p.Arg446Cys | Uncertain significance | Mutation from literature |
| ofloxacin | ||||
| levofloxacin | gyrB | p.Arg446Cys | Uncertain significance | Mutation from literature |
| ciprofloxacin | ||||
| aminoglycosides | ||||
| amikacin | rrs | n.1401A>G | Assoc w R | |
| capreomycin | rrs | n.1401A>G | Assoc w R | |
| kanamycin | rrs | n.1401A>G | Assoc w R | |
| cycloserine | ||||
| ethionamide | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T |
| clofazimine | ||||
| para-aminosalicylic_acid | ||||
| delamanid | ||||
| bedaquiline | ||||
| linezolid |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
|---|---|---|---|---|---|---|---|
| gyrB | 6575 | p.Arg446Cys | missense_variant | 1.0 | levofloxacin | Uncertain significance | Mutation from literature |
| moxifloxacin | Uncertain significance | Mutation from literature | |||||
| rpoB | 761139 | p.His445Tyr | missense_variant | 1.0 | rifampicin | Assoc w R | |
| rrs | 1473246 | n.1401A>G | non_coding_transcript_exon_variant | 0.79 | amikacin | Assoc w R | |
| kanamycin | Assoc w R | ||||||
| capreomycin | Assoc w R | ||||||
| inhA | 1673425 | c.-777C>T | upstream_gene_variant | 1.0 | isoniazid | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
| ethionamide | Assoc w R | Alias fabG1_c.-15C>T | |||||
| pncA | 2289162 | c.75_79dupCGCGC | frameshift_variant | 1.0 | pyrazinamide | Assoc w R | |
| ahpC | 2726112 | c.-81C>T | upstream_gene_variant | 1.0 | isoniazid | Uncertain significance | Mutation from literature |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
|---|---|---|---|---|---|---|
| gyrB | 6973 | c.1734G>A | synonymous_variant | 1.0 | levofloxacin | Not assoc w R - Interim |
| moxifloxacin | Not assoc w R - Interim | |||||
| gyrA | 7585 | p.Ser95Thr | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| gyrA | 8717 | c.1416C>G | synonymous_variant | 1.0 | levofloxacin | Not assoc w R - Interim |
| moxifloxacin | Not assoc w R - Interim | |||||
| gyrA | 9304 | p.Gly668Asp | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| Rv0010c | 13152 | p.Ala136Val | missense_variant | 1.0 | isoniazid | Uncertain significance |
| ccsA | 620625 | p.Ile245Met | missense_variant | 1.0 | capreomycin | Not assoc w R |
| amikacin | Not assoc w R | |||||
| kanamycin | Uncertain significance | |||||
| Rv0565c | 657081 | c.390G>A | synonymous_variant | 1.0 | ethionamide | Not assoc w R - Interim |
| Rv0565c | 657142 | p.Arg110His | missense_variant | 1.0 | ethionamide | Uncertain significance |
| Rv0565c | 657393 | p.Tyr26* | stop_gained | 1.0 | ethionamide | Uncertain significance |
| rpoC | 762893 | c.-477C>T | upstream_gene_variant | 0.37 | rifampicin | |
| rpoC | 762896 | c.-474G>C | upstream_gene_variant | 0.37 | rifampicin | |
| rpoB | 762909 | p.Ile1035Val | missense_variant | 0.55 | rifampicin | Uncertain significance |
| rpoB | 762917 | c.3111C>G | synonymous_variant | 0.45 | rifampicin | Not assoc w R - Interim |
| rpoB | 762920 | c.3114C>T | synonymous_variant | 0.45 | rifampicin | Not assoc w R - Interim |
| rpoB | 762923 | c.3117C>G | synonymous_variant | 0.45 | rifampicin | Not assoc w R - Interim |
| rpoB | 762925 | p.Thr1040Ile | missense_variant | 0.45 | rifampicin | |
| rpoB | 762929 | c.3123G>T | synonymous_variant | 0.48 | rifampicin | Not assoc w R - Interim |
| rpoB | 762939 | c.3133_3135delATGinsCC | frameshift_variant&missense_variant | 0.45 | rifampicin | |
| rpoB | 762942 | p.Ile1046Val | missense_variant | 0.45 | rifampicin | Uncertain significance |
| rpoC | 762965 | c.-405T>C | upstream_gene_variant | 0.53 | rifampicin | |
| rpoC | 762980 | c.-390T>C | upstream_gene_variant | 0.4 | rifampicin | |
| rpoB | 763031 | c.3225T>C | synonymous_variant | 1.0 | rifampicin | Not assoc w R |
| mmpL5 | 776100 | p.Thr794Ile | missense_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| mmpL5 | 776408 | c.2073G>T | synonymous_variant | 1.0 | clofazimine | |
| bedaquiline | ||||||
| mmpR5 | 778421 | c.-569C>T | upstream_gene_variant | 1.0 | clofazimine | |
| bedaquiline | ||||||
| mmpL5 | 778672 | c.-192A>G | upstream_gene_variant | 1.0 | clofazimine | |
| bedaquiline | ||||||
| mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 1.0 | clofazimine | |
| bedaquiline | ||||||
| rpsL | 781301 | c.-259C>T | upstream_gene_variant | 1.0 | streptomycin | |
| rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
| Rv1129c | 1253568 | p.Thr323Ala | missense_variant | 0.92 | moxifloxacin | Uncertain significance |
| levofloxacin | Uncertain significance | |||||
| rifampicin | Uncertain significance | |||||
| isoniazid | Uncertain significance | |||||
| Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 1.0 | moxifloxacin | Not assoc w R |
| levofloxacin | Not assoc w R | |||||
| rifampicin | Not assoc w R | |||||
| isoniazid | Not assoc w R | |||||
| fbiC | 1302712 | c.-219G>A | upstream_gene_variant | 1.0 | clofazimine | |
| pretomanid | ||||||
| delamanid | ||||||
| Rv1258c | 1406760 | c.580_581insC | frameshift_variant | 1.0 | streptomycin | Uncertain significance |
| isoniazid | Uncertain significance | |||||
| pyrazinamide | Uncertain significance | |||||
| rrs | 1471574 | n.-272T>C | upstream_gene_variant | 1.0 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472160 | n.315C>T | non_coding_transcript_exon_variant | 0.3 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472172 | n.327T>C | non_coding_transcript_exon_variant | 0.35 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472181 | n.336G>A | non_coding_transcript_exon_variant | 0.46 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472214 | n.369C>G | non_coding_transcript_exon_variant | 0.46 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472235 | n.390G>C | non_coding_transcript_exon_variant | 0.43 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472240 | n.395G>C | non_coding_transcript_exon_variant | 0.44 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472242 | n.397C>T | non_coding_transcript_exon_variant | 0.43 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472251 | n.406G>A | non_coding_transcript_exon_variant | 0.33 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472253 | n.408G>T | non_coding_transcript_exon_variant | 0.31 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472259 | n.414C>A | non_coding_transcript_exon_variant | 0.27 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472264 | n.419T>C | non_coding_transcript_exon_variant | 0.25 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472266 | n.421C>A | non_coding_transcript_exon_variant | 0.23 | streptomycin | Uncertain significance |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472598 | n.753A>C | non_coding_transcript_exon_variant | 0.28 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472599 | n.754G>A | non_coding_transcript_exon_variant | 0.28 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472616 | n.771G>A | non_coding_transcript_exon_variant | 0.32 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472734 | n.889C>T | non_coding_transcript_exon_variant | 0.6 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472741 | n.896G>A | non_coding_transcript_exon_variant | 0.58 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472742 | n.897C>T | non_coding_transcript_exon_variant | 0.58 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472781 | n.936C>T | non_coding_transcript_exon_variant | 0.58 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472793 | n.948A>T | non_coding_transcript_exon_variant | 0.47 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472803 | n.958T>C | non_coding_transcript_exon_variant | 0.32 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472812 | n.967A>C | non_coding_transcript_exon_variant | 0.32 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1473145 | n.1300C>T | non_coding_transcript_exon_variant | 0.36 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473149 | n.1304G>C | non_coding_transcript_exon_variant | 0.41 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1473162 | n.1317C>G | non_coding_transcript_exon_variant | 0.45 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1473166 | n.1321G>A | non_coding_transcript_exon_variant | 0.45 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473173 | n.1328C>T | non_coding_transcript_exon_variant | 0.43 | streptomycin | Not assoc w R |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473177 | n.1332G>A | non_coding_transcript_exon_variant | 0.42 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473191 | n.1346C>T | non_coding_transcript_exon_variant | 0.47 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473192 | n.1347A>G | non_coding_transcript_exon_variant | 0.45 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473199 | n.1356delA | non_coding_transcript_exon_variant | 0.48 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473205 | n.1360T>C | non_coding_transcript_exon_variant | 0.5 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473206 | n.1361G>A | non_coding_transcript_exon_variant | 0.5 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrl | 1473632 | n.-26G>A | upstream_gene_variant | 1.0 | capreomycin | Uncertain significance |
| linezolid | ||||||
| rrl | 1475791 | n.2134A>G | non_coding_transcript_exon_variant | 0.2 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475803 | n.2146T>C | non_coding_transcript_exon_variant | 0.22 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475804 | n.2147G>C | non_coding_transcript_exon_variant | 0.23 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475816 | n.2159C>G | non_coding_transcript_exon_variant | 0.26 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475817 | n.2160A>G | non_coding_transcript_exon_variant | 0.26 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475874 | n.2217C>T | non_coding_transcript_exon_variant | 0.3 | capreomycin | |
| linezolid | ||||||
| rrl | 1476336 | n.2679C>G | non_coding_transcript_exon_variant | 0.48 | capreomycin | |
| linezolid | ||||||
| rrl | 1476356 | n.2699C>G | non_coding_transcript_exon_variant | 0.51 | capreomycin | |
| linezolid | ||||||
| rrl | 1476357 | n.2700T>A | non_coding_transcript_exon_variant | 0.51 | capreomycin | |
| linezolid | ||||||
| rrl | 1476358 | n.2701T>C | non_coding_transcript_exon_variant | 0.51 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476359 | n.2702C>G | non_coding_transcript_exon_variant | 0.51 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476381 | n.2724G>C | non_coding_transcript_exon_variant | 0.6 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476382 | n.2725A>G | non_coding_transcript_exon_variant | 0.6 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476384 | n.2727G>C | non_coding_transcript_exon_variant | 0.62 | capreomycin | |
| linezolid | ||||||
| rrl | 1476408 | n.2751G>A | non_coding_transcript_exon_variant | 0.64 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476411 | n.2754G>A | non_coding_transcript_exon_variant | 0.63 | capreomycin | |
| linezolid | ||||||
| rrl | 1476428 | n.2771C>A | non_coding_transcript_exon_variant | 0.63 | capreomycin | |
| linezolid | ||||||
| rrl | 1476443 | n.2786G>C | non_coding_transcript_exon_variant | 0.59 | capreomycin | |
| linezolid | ||||||
| rrl | 1476455 | n.2798C>G | non_coding_transcript_exon_variant | 0.59 | capreomycin | |
| linezolid | ||||||
| rrl | 1476463 | n.2806C>T | non_coding_transcript_exon_variant | 0.55 | capreomycin | |
| linezolid | ||||||
| rrl | 1476466 | n.2809C>T | non_coding_transcript_exon_variant | 0.52 | capreomycin | Not assoc w R |
| linezolid | Uncertain significance | |||||
| rrl | 1476470 | n.2813C>T | non_coding_transcript_exon_variant | 0.5 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1476481 | n.2824T>C | non_coding_transcript_exon_variant | 0.44 | capreomycin | Not assoc w R |
| linezolid | Uncertain significance | |||||
| rpsA | 1834177 | c.636A>C | synonymous_variant | 1.0 | pyrazinamide | Not assoc w R - Interim |
| PPE35 | 2167926 | p.Leu896Ser | missense_variant | 1.0 | pyrazinamide | Not assoc w R |
| Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| thyX | 3067947 | c.-2C>T | upstream_gene_variant | 1.0 | para-aminosalicylic_acid | |
| ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
| ald | 3086822 | p.Met1? | start_lost | 1.0 | cycloserine | |
| Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 1.0 | pyrazinamide | Not assoc w R - Interim |
| mtrB | 3625065 | p.Met517Leu | missense_variant | 1.0 | bedaquiline | Uncertain significance |
| rifampicin | Not assoc w R | |||||
| mtrB | 3626562 | p.Pro18Ser | missense_variant | 1.0 | bedaquiline | Uncertain significance |
| rifampicin | Not assoc w R | |||||
| aftB | 4267647 | p.Asp397Gly | missense_variant | 1.0 | ethambutol | Not assoc w R |
| ubiA | 4269317 | p.Ser173Ala | missense_variant | 1.0 | ethambutol | Uncertain significance |
| ubiA | 4269433 | p.Met134Thr | missense_variant | 0.93 | ethambutol | |
| whiB6 | 4338271 | p.Ser84* | stop_gained | 1.0 | capreomycin | Uncertain significance |
| amikacin | Uncertain significance | |||||
| kanamycin | Uncertain significance | |||||
| whiB6 | 4338595 | c.-75delG | upstream_gene_variant | 1.0 | capreomycin | Not assoc w R |
| amikacin | Not assoc w R | |||||
| kanamycin | Not assoc w R | |||||
| whiB6 | 4338732 | c.-211C>T | upstream_gene_variant | 1.0 | capreomycin | |
| amikacin | ||||||
| kanamycin | ||||||
| whiB6 | 4338957 | c.-436C>A | upstream_gene_variant | 1.0 | capreomycin | |
| amikacin | ||||||
| kanamycin | ||||||
| gid | 4407588 | c.615A>G | synonymous_variant | 1.0 | streptomycin | Not assoc w R |
| gid | 4407927 | p.Glu92Asp | missense_variant | 1.0 | streptomycin | Not assoc w R |