TB-Profiler result

Run: SRR1172816
Summary

Run ID: SRR1172816

Sample name:

Date: 03-04-2023 03:10:56

Number of reads: 809076

Percentage reads mapped: 12.06

Strain: lineage4.3.3

Drug-resistance: MDR-TB

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Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations
Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family Main Spoligotype RDs Frequency
lineage4 Euro-American LAM;T;S;X;H None 1.0
lineage4.3 Euro-American (LAM) mainly-LAM None 0.99
lineage4.3.3 Euro-American (LAM) LAM;T RD115 1.0
Drug resistance-Associated Mutations: This table reports mutations found in candidate resistance genes which have been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction Drugs
rpoB 761161 p.Leu452Pro missense_variant 1.0 rifampicin
rrs 1472733 n.888G>A non_coding_transcript_exon_variant 0.89 streptomycin
fabG1 1673432 c.-8T>A upstream_gene_variant 1.0 isoniazid
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid
pncA 2288785 c.456dupC frameshift_variant 1.0 pyrazinamide, pyrazinamide
embB 4247429 p.Met306Val missense_variant 1.0 ethambutol
ethA 4327484 c.-11A>G upstream_gene_variant 1.0 ethionamide
Non-Associated Mutations: This table reports mutations found in candidate resistance genes which have not been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction
gyrB 5529 p.Asp97Gly missense_variant 0.13
gyrB 5709 p.Gly157Val missense_variant 0.15
gyrA 7362 p.Glu21Gln missense_variant 1.0
gyrA 7585 p.Ser95Thr missense_variant 1.0
gyrA 7800 p.Pro167Ala missense_variant 0.14
gyrA 7938 p.Glu213Gln missense_variant 0.22
gyrA 8040 p.Gly247Ser missense_variant 1.0
gyrA 8390 c.1089C>A synonymous_variant 0.12
gyrA 8789 c.1488C>A synonymous_variant 0.13
gyrA 9096 p.Leu599Met missense_variant 0.13
gyrA 9304 p.Gly668Asp missense_variant 1.0
gyrA 9661 p.Ala787Val missense_variant 0.15
gyrA 9664 p.Ala788Glu missense_variant 0.31
fgd1 491173 c.391C>A synonymous_variant 0.17
ccsA 619715 c.-176C>A upstream_gene_variant 0.15
ccsA 619827 c.-64C>T upstream_gene_variant 0.15
ccsA 620139 c.249C>T synonymous_variant 0.22
ccsA 620149 p.Gly87Cys missense_variant 0.22
rpoB 760397 p.Lys197Asn missense_variant 0.17
rpoB 761131 p.Gly442Val missense_variant 0.17
rpoB 762273 p.Ala823Ser missense_variant 0.2
rpoB 762305 c.2499G>T synonymous_variant 0.15
rpoB 762351 p.Arg849Gly missense_variant 0.12
rpoC 762926 c.-444C>G upstream_gene_variant 0.14
rpoC 762929 c.-441G>C upstream_gene_variant 0.14
rpoC 763699 c.330G>T synonymous_variant 0.21
rpoC 763826 p.Ala153Ser missense_variant 0.22
rpoC 764813 p.Gln482Lys missense_variant 0.17
rpoC 764995 c.1626C>G synonymous_variant 1.0
rpoC 765057 p.Asn563Ile missense_variant 0.13
rpoC 765471 p.Ala701Val missense_variant 0.12
rpoC 765481 c.2112C>T synonymous_variant 0.13
rpoC 765911 p.Glu848* stop_gained 0.2
rpoC 767260 p.Phe1297Leu missense_variant 0.17
mmpL5 775639 p.Ile948Val missense_variant 1.0
mmpL5 777025 p.Arg486Trp missense_variant 0.13
mmpL5 777035 p.Gln482His missense_variant 0.17
mmpL5 777251 c.1230C>T synonymous_variant 0.2
mmpL5 777417 p.Pro355Gln missense_variant 0.25
mmpR5 778016 c.-974G>T upstream_gene_variant 0.12
mmpL5 778528 c.-48G>T upstream_gene_variant 0.14
mmpS5 778764 p.Pro48Thr missense_variant 0.14
rpsL 781395 c.-165T>C upstream_gene_variant 1.0
rplC 800935 p.Glu43Lys missense_variant 0.17
rplC 801291 p.Phe161Leu missense_variant 0.25
fbiC 1303013 p.Arg28Leu missense_variant 0.15
fbiC 1303523 p.Trp198* stop_gained 0.13
fbiC 1304066 p.Ala379Val missense_variant 0.14
fbiC 1304076 c.1146C>T synonymous_variant 0.15
fbiC 1304436 c.1506G>T synonymous_variant 0.22
fbiC 1304441 p.Arg504Leu missense_variant 0.2
fbiC 1304467 p.Glu513* stop_gained 0.18
fbiC 1304635 p.Gln569Lys missense_variant 0.17
fbiC 1305117 c.2187T>A synonymous_variant 0.22
fbiC 1305464 p.Arg845Leu missense_variant 0.4
Rv1258c 1406236 p.Pro369Thr missense_variant 0.14
Rv1258c 1406953 p.Glu130Lys missense_variant 0.18
Rv1258c 1406999 c.342C>T synonymous_variant 0.17
Rv1258c 1407318 p.Pro8Gln missense_variant 0.14
embR 1417367 c.-20C>A upstream_gene_variant 0.13
rrs 1471659 n.-187C>T upstream_gene_variant 1.0
rrs 1472094 n.249T>A non_coding_transcript_exon_variant 0.25
rrs 1472102 n.257G>A non_coding_transcript_exon_variant 0.36
rrs 1472106 n.261G>A non_coding_transcript_exon_variant 0.29
rrs 1472112 n.267C>T non_coding_transcript_exon_variant 0.28
rrs 1472113 n.268T>C non_coding_transcript_exon_variant 0.26
rrs 1472127 n.282C>T non_coding_transcript_exon_variant 0.42
rrs 1472128 n.283G>A non_coding_transcript_exon_variant 0.42
rrs 1472129 n.284G>C non_coding_transcript_exon_variant 0.42
rrs 1472130 n.285G>A non_coding_transcript_exon_variant 0.42
rrs 1472137 n.292G>A non_coding_transcript_exon_variant 0.4
rrs 1472150 n.305T>A non_coding_transcript_exon_variant 0.54
rrs 1472151 n.306C>T non_coding_transcript_exon_variant 0.4
rrs 1472172 n.327T>C non_coding_transcript_exon_variant 0.39
rrs 1472203 n.358G>A non_coding_transcript_exon_variant 0.22
rrs 1472257 n.412G>T non_coding_transcript_exon_variant 0.17
rrs 1472498 n.653C>A non_coding_transcript_exon_variant 0.46
rrs 1472507 n.662C>G non_coding_transcript_exon_variant 0.75
rrs 1472517 n.672T>A non_coding_transcript_exon_variant 0.82
rrs 1472518 n.673G>T non_coding_transcript_exon_variant 0.82
rrs 1472530 n.685G>A non_coding_transcript_exon_variant 0.9
rrs 1472537 n.692C>T non_coding_transcript_exon_variant 0.91
rrs 1472544 n.699C>A non_coding_transcript_exon_variant 0.91
rrs 1472545 n.700A>T non_coding_transcript_exon_variant 0.91
rrs 1472566 n.721G>A non_coding_transcript_exon_variant 0.93
rrs 1472571 n.726G>C non_coding_transcript_exon_variant 0.93
rrs 1472579 n.734G>T non_coding_transcript_exon_variant 0.92
rrs 1472581 n.736A>T non_coding_transcript_exon_variant 0.95
rrs 1472598 n.753A>C non_coding_transcript_exon_variant 0.91
rrs 1472599 n.754G>T non_coding_transcript_exon_variant 0.91
rrs 1472616 n.771G>A non_coding_transcript_exon_variant 0.89
rrs 1472655 n.810G>A non_coding_transcript_exon_variant 0.88
rrs 1472658 n.813G>A non_coding_transcript_exon_variant 0.86
rrs 1472661 n.816A>G non_coding_transcript_exon_variant 0.86
rrs 1472670 n.825G>T non_coding_transcript_exon_variant 0.81
rrs 1472673 n.828T>G non_coding_transcript_exon_variant 0.78
rrs 1472675 n.830T>C non_coding_transcript_exon_variant 0.79
rrs 1472677 n.832C>T non_coding_transcript_exon_variant 0.79
rrs 1472681 n.837_838delTT non_coding_transcript_exon_variant 0.81
rrs 1472687 n.842_843insC non_coding_transcript_exon_variant 0.8
rrs 1472690 n.845C>A non_coding_transcript_exon_variant 0.83
rrs 1472697 n.852T>C non_coding_transcript_exon_variant 0.86
rrs 1472713 n.868T>C non_coding_transcript_exon_variant 0.9
rrs 1472716 n.871C>T non_coding_transcript_exon_variant 0.9
rrs 1472742 n.897C>T non_coding_transcript_exon_variant 0.88
rrs 1472744 n.899A>G non_coding_transcript_exon_variant 0.88
rrs 1472781 n.936C>T non_coding_transcript_exon_variant 0.85
rrs 1472793 n.948A>T non_coding_transcript_exon_variant 0.84
rrs 1472803 n.958T>A non_coding_transcript_exon_variant 0.81
rrs 1472824 n.979T>A non_coding_transcript_exon_variant 0.52
rrs 1472827 n.982G>T non_coding_transcript_exon_variant 0.29
rrs 1472828 n.983T>C non_coding_transcript_exon_variant 0.31
rrs 1472895 n.1050C>T non_coding_transcript_exon_variant 0.16
rrs 1472954 n.1109T>C non_coding_transcript_exon_variant 0.18
rrs 1472956 n.1111T>C non_coding_transcript_exon_variant 0.18
rrs 1472957 n.1112C>T non_coding_transcript_exon_variant 0.19
rrs 1473005 n.1160C>T non_coding_transcript_exon_variant 0.15
rrs 1473035 n.1190G>A non_coding_transcript_exon_variant 0.31
rrs 1473053 n.1208T>A non_coding_transcript_exon_variant 0.33
rrs 1473055 n.1210C>T non_coding_transcript_exon_variant 0.13
rrs 1473056 n.1211A>T non_coding_transcript_exon_variant 0.43
rrs 1473062 n.1217T>A non_coding_transcript_exon_variant 0.36
rrs 1473066 n.1221A>G non_coding_transcript_exon_variant 0.14
rrs 1473068 n.1223A>G non_coding_transcript_exon_variant 0.36
rrs 1473080 n.1235C>T non_coding_transcript_exon_variant 0.17
rrs 1473081 n.1236C>T non_coding_transcript_exon_variant 0.42
rrs 1473088 n.1243A>G non_coding_transcript_exon_variant 0.17
rrs 1473093 n.1248C>T non_coding_transcript_exon_variant 0.15
rrs 1473130 n.1285G>A non_coding_transcript_exon_variant 0.45
rrs 1473145 n.1300C>T non_coding_transcript_exon_variant 0.47
rrs 1473147 n.1302G>T non_coding_transcript_exon_variant 0.41
rrs 1473148 n.1303G>A non_coding_transcript_exon_variant 0.4
rrs 1473150 n.1305T>G non_coding_transcript_exon_variant 0.4
rrs 1473161 n.1316A>C non_coding_transcript_exon_variant 0.44
rrs 1473163 n.1318C>T non_coding_transcript_exon_variant 0.44
rrs 1473164 n.1319C>A non_coding_transcript_exon_variant 0.43
rrs 1473166 n.1321G>A non_coding_transcript_exon_variant 0.48
rrs 1473177 n.1332G>A non_coding_transcript_exon_variant 0.41
rrs 1473192 n.1347A>G non_coding_transcript_exon_variant 0.44
rrs 1473199 n.1356delA non_coding_transcript_exon_variant 0.45
rrs 1473205 n.1360T>C non_coding_transcript_exon_variant 0.47
rrs 1473259 n.1414C>T non_coding_transcript_exon_variant 0.12
rrl 1474249 n.592G>T non_coding_transcript_exon_variant 0.17
rrl 1474626 n.969T>C non_coding_transcript_exon_variant 0.19
rrl 1474634 n.977T>C non_coding_transcript_exon_variant 0.17
rrl 1474636 n.979A>C non_coding_transcript_exon_variant 0.18
rrl 1474637 n.980C>T non_coding_transcript_exon_variant 0.23
rrl 1474638 n.981C>G non_coding_transcript_exon_variant 0.23
rrl 1474640 n.983C>T non_coding_transcript_exon_variant 0.17
rrl 1474677 n.1020A>G non_coding_transcript_exon_variant 0.17
rrl 1474804 n.1147C>T non_coding_transcript_exon_variant 0.19
rrl 1474812 n.1155G>A non_coding_transcript_exon_variant 0.19
rrl 1474823 n.1166C>G non_coding_transcript_exon_variant 0.28
rrl 1474824 n.1167A>G non_coding_transcript_exon_variant 0.19
rrl 1474827 n.1170C>T non_coding_transcript_exon_variant 0.2
rrl 1474830 n.1173A>G non_coding_transcript_exon_variant 0.1
rrl 1474831 n.1174A>C non_coding_transcript_exon_variant 0.22
rrl 1474839 n.1182C>T non_coding_transcript_exon_variant 0.3
rrl 1474844 n.1187G>T non_coding_transcript_exon_variant 0.3
rrl 1474848 n.1191G>A non_coding_transcript_exon_variant 0.29
rrl 1474862 n.1205C>T non_coding_transcript_exon_variant 0.33
rrl 1474892 n.1235G>A non_coding_transcript_exon_variant 0.34
rrl 1474896 n.1239A>G non_coding_transcript_exon_variant 0.37
rrl 1474901 n.1244A>G non_coding_transcript_exon_variant 0.11
rrl 1474902 n.1245T>C non_coding_transcript_exon_variant 0.23
rrl 1474903 n.1246T>C non_coding_transcript_exon_variant 0.23
rrl 1474904 n.1247G>C non_coding_transcript_exon_variant 0.32
rrl 1474913 n.1256T>A non_coding_transcript_exon_variant 0.28
rrl 1474920 n.1263G>C non_coding_transcript_exon_variant 0.29
rrl 1475686 n.2029C>G non_coding_transcript_exon_variant 0.1
rrl 1475696 n.2039T>C non_coding_transcript_exon_variant 0.12
rrl 1475715 n.2058G>C non_coding_transcript_exon_variant 0.1
rrl 1475751 n.2094C>A non_coding_transcript_exon_variant 0.14
rrl 1475756 n.2099T>C non_coding_transcript_exon_variant 0.11
rrl 1475783 n.2126T>G non_coding_transcript_exon_variant 0.43
rrl 1475803 n.2146T>C non_coding_transcript_exon_variant 0.49
rrl 1475804 n.2147G>C non_coding_transcript_exon_variant 0.49
rrl 1475816 n.2159C>G non_coding_transcript_exon_variant 0.49
rrl 1475817 n.2160A>G non_coding_transcript_exon_variant 0.5
rrl 1475858 n.2201T>C non_coding_transcript_exon_variant 0.43
rrl 1475866 n.2209T>A non_coding_transcript_exon_variant 0.45
rrl 1475874 n.2217C>T non_coding_transcript_exon_variant 0.34
rrl 1475877 n.2220C>T non_coding_transcript_exon_variant 0.18
rrl 1475898 n.2241A>G non_coding_transcript_exon_variant 0.15
rrl 1475899 n.2242G>A non_coding_transcript_exon_variant 0.15
rrl 1475916 n.2259C>G non_coding_transcript_exon_variant 0.16
rrl 1475937 n.2280A>T non_coding_transcript_exon_variant 0.2
rrl 1475943 n.2286G>A non_coding_transcript_exon_variant 0.16
rrl 1475952 n.2295A>G non_coding_transcript_exon_variant 0.13
rrl 1476056 n.2399G>A non_coding_transcript_exon_variant 0.94
rrl 1476311 n.2654G>C non_coding_transcript_exon_variant 0.12
rrl 1476312 n.2655T>C non_coding_transcript_exon_variant 0.12
rrl 1476313 n.2656G>A non_coding_transcript_exon_variant 0.23
rrl 1476332 n.2675G>C non_coding_transcript_exon_variant 0.75
rrl 1476338 n.2681C>T non_coding_transcript_exon_variant 0.79
rrl 1476353 n.2696G>T non_coding_transcript_exon_variant 0.85
rrl 1476358 n.2701T>C non_coding_transcript_exon_variant 0.85
rrl 1476369 n.2712C>T non_coding_transcript_exon_variant 0.86
rrl 1476372 n.2715T>C non_coding_transcript_exon_variant 0.86
rrl 1476382 n.2725A>G non_coding_transcript_exon_variant 0.86
rrl 1476383 n.2726T>A non_coding_transcript_exon_variant 0.86
rrl 1476425 n.2768G>T non_coding_transcript_exon_variant 0.87
rrl 1476428 n.2771C>T non_coding_transcript_exon_variant 0.89
rrl 1476429 n.2772A>C non_coding_transcript_exon_variant 0.9
rrl 1476481 n.2824T>C non_coding_transcript_exon_variant 0.8
rrl 1476506 n.2849T>C non_coding_transcript_exon_variant 0.64
rrl 1476514 n.2857C>T non_coding_transcript_exon_variant 0.51
rrl 1476519 n.2862C>G non_coding_transcript_exon_variant 0.38
rrl 1476524 n.2867C>A non_coding_transcript_exon_variant 0.29
rrl 1476525 n.2868A>G non_coding_transcript_exon_variant 0.33
rrl 1476530 n.2873C>T non_coding_transcript_exon_variant 0.3
fabG1 1674085 p.Glu216* stop_gained 0.13
inhA 1674253 p.Asp18Tyr missense_variant 0.15
inhA 1674315 c.114C>A synonymous_variant 0.15
rpsA 1834369 c.828C>A synonymous_variant 0.13
tlyA 1917953 p.Ala5Asp missense_variant 0.15
tlyA 1917972 c.33A>G synonymous_variant 1.0
ndh 2102339 p.Arg235Leu missense_variant 0.2
ndh 2102964 p.Leu27Ile missense_variant 0.17
ndh 2103233 c.-191G>T upstream_gene_variant 0.25
katG 2154359 p.Ala585Ser missense_variant 0.29
katG 2154512 p.Gly534Trp missense_variant 0.25
katG 2154721 p.Ala464Glu missense_variant 0.14
katG 2154745 p.Ala456Val missense_variant 0.17
katG 2155007 p.Gly369Ser missense_variant 0.14
katG 2155632 c.480A>T synonymous_variant 0.29
PPE35 2169320 p.Leu431Phe missense_variant 0.24
PPE35 2170521 p.Trp31Leu missense_variant 0.17
PPE35 2170620 c.-8G>T upstream_gene_variant 0.12
Rv1979c 2222846 p.Gly107Trp missense_variant 0.12
Rv1979c 2223051 p.Glu38Asp missense_variant 1.0
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0
pncA 2289723 c.-482C>T upstream_gene_variant 0.12
pncA 2290062 c.-821G>T upstream_gene_variant 0.17
kasA 2518599 p.Ala162Asp missense_variant 0.13
kasA 2518919 p.Gly269Ser missense_variant 1.0
kasA 2519206 c.1092C>T synonymous_variant 0.25
eis 2715519 c.-187G>T upstream_gene_variant 0.14
ahpC 2726610 p.Pro140Thr missense_variant 0.14
ahpC 2726652 p.Val154Met missense_variant 0.13
folC 2747588 p.Thr4Met missense_variant 0.14
folC 2747679 c.-81C>A upstream_gene_variant 0.15
pepQ 2859928 p.Arg164Leu missense_variant 0.17
pepQ 2860024 p.Arg132Leu missense_variant 0.25
pepQ 2860159 p.Ala87Asp missense_variant 0.29
ribD 2987384 c.546C>T synonymous_variant 0.2
Rv2752c 3064874 p.Gly440Cys missense_variant 0.13
Rv2752c 3065702 p.Thr164Ala missense_variant 0.12
Rv2752c 3065824 p.Pro123Leu missense_variant 1.0
thyX 3068154 c.-209G>A upstream_gene_variant 0.17
thyA 3073868 p.Thr202Ala missense_variant 1.0
thyA 3074370 p.Met34Ile missense_variant 0.12
ald 3086788 c.-32T>C upstream_gene_variant 1.0
ald 3087634 p.Gly272Asp missense_variant 0.13
fbiD 3339196 p.Ala27Ser missense_variant 0.17
fbiD 3339383 p.Pro89His missense_variant 0.13
Rv3083 3448435 c.-69G>T upstream_gene_variant 0.14
Rv3083 3448803 c.300C>T synonymous_variant 0.18
fprA 3473835 c.-172T>A upstream_gene_variant 0.12
fprA 3473962 c.-45C>G upstream_gene_variant 0.29
fprA 3473996 c.-11_-10insA upstream_gene_variant 1.0
fprA 3474058 p.Ala18Ser missense_variant 0.33
fprA 3474447 c.441C>A synonymous_variant 0.17
fprA 3474601 p.Arg199Cys missense_variant 0.14
fprA 3474664 p.Gly220Trp missense_variant 0.15
fprA 3474893 p.Ser296Tyr missense_variant 0.12
Rv3236c 3611995 c.1122C>A synonymous_variant 0.2
Rv3236c 3612358 c.759G>A synonymous_variant 0.13
Rv3236c 3612537 p.Gly194Trp missense_variant 0.14
Rv3236c 3613262 c.-146G>T upstream_gene_variant 0.12
fbiB 3640563 c.-972C>T upstream_gene_variant 0.13
fbiA 3640840 p.Asp100Asn missense_variant 0.12
fbiA 3640862 p.Arg107His missense_variant 0.14
fbiA 3640867 p.Leu109Met missense_variant 0.17
fbiB 3642146 p.Leu204Phe missense_variant 0.22
fbiB 3642729 p.Gly399Cys missense_variant 0.18
alr 3840811 p.Asp204Tyr missense_variant 0.14
alr 3840870 p.Ala184Asp missense_variant 0.2
alr 3841089 p.Ala111Asp missense_variant 0.18
alr 3841166 c.255T>A synonymous_variant 0.15
alr 3841193 c.228C>A synonymous_variant 0.14
rpoA 3878565 c.-58G>A upstream_gene_variant 0.25
clpC1 4038287 c.2418C>T synonymous_variant 1.0
clpC1 4039271 p.Glu478Asp missense_variant 0.13
clpC1 4039285 p.Asp474Asn missense_variant 0.13
clpC1 4039762 p.Gly315Arg missense_variant 0.29
clpC1 4039833 p.Thr291Ile missense_variant 0.18
clpC1 4040410 p.Gly99Cys missense_variant 0.12
clpC1 4040717 c.-13C>T upstream_gene_variant 0.13
clpC1 4040757 c.-53G>A upstream_gene_variant 0.14
panD 4044460 c.-179G>T upstream_gene_variant 0.15
embC 4239678 c.-185C>A upstream_gene_variant 0.4
embC 4240599 p.Val246Ala missense_variant 0.33
embC 4240898 p.Leu346Ile missense_variant 0.17
embC 4241258 p.Arg466Trp missense_variant 0.18
embC 4242060 p.Ala733Val missense_variant 0.14
embC 4242500 p.Ala880Ser missense_variant 0.2
embC 4242639 p.Trp926* stop_gained 0.15
embA 4242643 c.-590C>T upstream_gene_variant 1.0
embC 4242723 p.Pro954Gln missense_variant 0.2
embA 4244204 p.Met324Ile missense_variant 0.22
embA 4244354 c.1122G>A synonymous_variant 0.14
embA 4245919 p.Trp896Leu missense_variant 0.33
embA 4245931 p.Gly900Val missense_variant 0.33
embA 4246375 p.Gly1048Val missense_variant 0.17
embB 4246587 p.Gly25Glu missense_variant 0.14
embB 4246791 p.Pro93His missense_variant 0.29
embB 4248747 p.Gly745Val missense_variant 0.2
ubiA 4269270 p.Val188Ala missense_variant 0.2
ubiA 4269892 c.-59G>T upstream_gene_variant 0.17
ubiA 4269947 c.-114G>T upstream_gene_variant 0.18
ethA 4326068 p.Arg469Leu missense_variant 0.13
ethA 4326681 p.Leu265Met missense_variant 0.17
ethA 4327280 p.Arg65Leu missense_variant 0.17
whiB6 4338372 p.Lys50Asn missense_variant 0.15
whiB6 4338595 c.-75delG upstream_gene_variant 1.0
gid 4408156 p.Leu16Arg missense_variant 1.0
gid 4408302 c.-100A>G upstream_gene_variant 0.17
gid 4407912 c.160_290del frameshift_variant 1.0