Nearby variants
Returns nearby variants inside specified region
GET /region_variants/hg19/17/7577020/100?add-all-data=1
{
"gnomad_exomes": [
{
"version": "2.1.1",
"variants": [
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770210004",
"position": 7577021,
"spec": "chr17-7577021-C-T",
"pretty_spec": "chr17:7577021 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000159",
"chromo": "chr17",
"variant_id": "10190170075770280002",
"position": 7577028,
"spec": "chr17-7577028-T-C",
"pretty_spec": "chr17:7577028 T⇒C",
"alt": "C",
"ref": "T",
"frequency": 0.0000159
},
{
"main_data": "ƒ = 0.000274",
"chromo": "chr17",
"variant_id": "10190170075770350002",
"position": 7577035,
"spec": "chr17-7577035-T-C",
"pretty_spec": "chr17:7577035 T⇒C",
"alt": "C",
"ref": "T",
"frequency": 0.000274
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770380001",
"position": 7577038,
"spec": "chr17-7577038-G-A",
"pretty_spec": "chr17:7577038 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770430001",
"position": 7577043,
"spec": "chr17-7577043-G-A",
"pretty_spec": "chr17:7577043 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000795",
"chromo": "chr17",
"variant_id": "10190170075770440004",
"position": 7577044,
"spec": "chr17-7577044-C-T",
"pretty_spec": "chr17:7577044 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 7.95e-6
},
{
"main_data": "ƒ = 0",
"chromo": "chr17",
"variant_id": "10190170075770440005",
"position": 7577044,
"spec": "chr17-7577044--CT",
"pretty_spec": "chr17:7577043_4 insCT",
"alt": "CT",
"frequency": 0.0
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770460003",
"position": 7577046,
"spec": "chr17-7577046-C-G",
"pretty_spec": "chr17:7577046 C⇒G",
"alt": "G",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000119",
"chromo": "chr17",
"variant_id": "10190170075770460004",
"position": 7577046,
"spec": "chr17-7577046-C-T",
"pretty_spec": "chr17:7577046 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0000119
},
{
"main_data": "ƒ = 0.0000119",
"chromo": "chr17",
"variant_id": "10190170075770470001",
"position": 7577047,
"spec": "chr17-7577047-G-A",
"pretty_spec": "chr17:7577047 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000119
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770500001",
"position": 7577050,
"spec": "chr17-7577050-G-A",
"pretty_spec": "chr17:7577050 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000477",
"chromo": "chr17",
"variant_id": "10190170075770530003",
"position": 7577053,
"spec": "chr17-7577053-A-G",
"pretty_spec": "chr17:7577053 A⇒G",
"alt": "G",
"ref": "A",
"frequency": 0.0000477
},
{
"main_data": "ƒ = 0.0000199",
"chromo": "chr17",
"variant_id": "10190170075770540001",
"position": 7577054,
"spec": "chr17-7577054-G-A",
"pretty_spec": "chr17:7577054 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000199
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770560003",
"position": 7577056,
"spec": "chr17-7577056-C-G",
"pretty_spec": "chr17:7577056 C⇒G",
"alt": "G",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770590004",
"position": 7577059,
"spec": "chr17-7577059-C-T",
"pretty_spec": "chr17:7577059 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000795",
"chromo": "chr17",
"variant_id": "10190170075770610001",
"position": 7577061,
"spec": "chr17-7577061-C-A",
"pretty_spec": "chr17:7577061 C⇒A",
"alt": "A",
"ref": "C",
"frequency": 7.95e-6
},
{
"main_data": "ƒ = 0.00000795",
"chromo": "chr17",
"variant_id": "10190170075770610004",
"position": 7577061,
"spec": "chr17-7577061-C-T",
"pretty_spec": "chr17:7577061 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 7.95e-6
},
{
"main_data": "ƒ = 0.00000795",
"chromo": "chr17",
"variant_id": "10190170075770660002",
"position": 7577066,
"spec": "chr17-7577066-T-C",
"pretty_spec": "chr17:7577066 T⇒C",
"alt": "C",
"ref": "T",
"frequency": 7.95e-6
},
{
"main_data": "ƒ = 0.000155",
"chromo": "chr17",
"variant_id": "10190170075770690004",
"position": 7577069,
"spec": "chr17-7577069-C-T",
"pretty_spec": "chr17:7577069 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.000155
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770690005",
"position": 7577069,
"spec": "chr17-7577069--CGGTTTCCGC",
"pretty_spec": "chr17:7577068_9 insCGGTTTCCGC",
"alt": "CGGTTTCCGC",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000119",
"chromo": "chr17",
"variant_id": "10190170075770700001",
"position": 7577070,
"spec": "chr17-7577070-G-A",
"pretty_spec": "chr17:7577070 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000119
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770710001",
"position": 7577071,
"spec": "chr17-7577071-G-A",
"pretty_spec": "chr17:7577071 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000795",
"chromo": "chr17",
"variant_id": "10190170075770770003",
"position": 7577077,
"spec": "chr17-7577077-C-G",
"pretty_spec": "chr17:7577077 C⇒G",
"alt": "G",
"ref": "C",
"frequency": 7.95e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770790004",
"position": 7577079,
"spec": "chr17-7577079-C-T",
"pretty_spec": "chr17:7577079 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770830004",
"position": 7577083,
"spec": "chr17-7577083-C-T",
"pretty_spec": "chr17:7577083 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0",
"chromo": "chr17",
"variant_id": "10190170075770840001",
"position": 7577084,
"spec": "chr17-7577084-T-A",
"pretty_spec": "chr17:7577084 T⇒A",
"alt": "A",
"ref": "T",
"frequency": 0.0
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770860003",
"position": 7577086,
"spec": "chr17-7577086-T-G",
"pretty_spec": "chr17:7577086 T⇒G",
"alt": "G",
"ref": "T",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000398",
"chromo": "chr17",
"variant_id": "10190170075770900004",
"position": 7577090,
"spec": "chr17-7577090-C-T",
"pretty_spec": "chr17:7577090 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0000398
},
{
"main_data": "ƒ = 0.0000716",
"chromo": "chr17",
"variant_id": "10190170075770910001",
"position": 7577091,
"spec": "chr17-7577091-G-A",
"pretty_spec": "chr17:7577091 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000716
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770910004",
"position": 7577091,
"spec": "chr17-7577091-G-T",
"pretty_spec": "chr17:7577091 G⇒T",
"alt": "T",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770930004",
"position": 7577093,
"spec": "chr17-7577093-C-T",
"pretty_spec": "chr17:7577093 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770940001",
"position": 7577094,
"spec": "chr17-7577094-G-A",
"pretty_spec": "chr17:7577094 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075770970004",
"position": 7577097,
"spec": "chr17-7577097-C-T",
"pretty_spec": "chr17:7577097 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0.0000159",
"chromo": "chr17",
"variant_id": "10190170075771000003",
"position": 7577100,
"spec": "chr17-7577100-T-G",
"pretty_spec": "chr17:7577100 T⇒G",
"alt": "G",
"ref": "T",
"frequency": 0.0000159
},
{
"main_data": "ƒ = 0.00000398",
"chromo": "chr17",
"variant_id": "10190170075771080001",
"position": 7577108,
"spec": "chr17-7577108-C-A",
"pretty_spec": "chr17:7577108 C⇒A",
"alt": "A",
"ref": "C",
"frequency": 3.98e-6
},
{
"main_data": "ƒ = 0",
"chromo": "chr17",
"variant_id": "10190170075771080004",
"position": 7577108,
"spec": "chr17-7577108-C-T",
"pretty_spec": "chr17:7577108 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0
}
]
}
],
"gnomad_genomes": [
{
"version": "2.1.1",
"variants": [
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770470001",
"position": 7577047,
"spec": "chr17-7577047-G-A",
"pretty_spec": "chr17:7577047 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770530003",
"position": 7577053,
"spec": "chr17-7577053-A-G",
"pretty_spec": "chr17:7577053 A⇒G",
"alt": "G",
"ref": "A",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770540001",
"position": 7577054,
"spec": "chr17-7577054-G-A",
"pretty_spec": "chr17:7577054 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.000159",
"chromo": "chr17",
"variant_id": "10190170075770550001",
"position": 7577055,
"spec": "chr17-7577055-G-A",
"pretty_spec": "chr17:7577055 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.000159
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770610001",
"position": 7577061,
"spec": "chr17-7577061-C-A",
"pretty_spec": "chr17:7577061 C⇒A",
"alt": "A",
"ref": "C",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770630002",
"position": 7577063,
"spec": "chr17-7577063-T-C",
"pretty_spec": "chr17:7577063 T⇒C",
"alt": "C",
"ref": "T",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.000127",
"chromo": "chr17",
"variant_id": "10190170075770690004",
"position": 7577069,
"spec": "chr17-7577069-C-T",
"pretty_spec": "chr17:7577069 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.000127
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770700001",
"position": 7577070,
"spec": "chr17-7577070-G-A",
"pretty_spec": "chr17:7577070 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075770830004",
"position": 7577083,
"spec": "chr17-7577083-C-T",
"pretty_spec": "chr17:7577083 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0000319
},
{
"main_data": "ƒ = 0.0000956",
"chromo": "chr17",
"variant_id": "10190170075770910001",
"position": 7577091,
"spec": "chr17-7577091-G-A",
"pretty_spec": "chr17:7577091 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.0000956
},
{
"main_data": "ƒ = 0.0000319",
"chromo": "chr17",
"variant_id": "10190170075771140004",
"position": 7577114,
"spec": "chr17-7577114-C-T",
"pretty_spec": "chr17:7577114 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0000319
}
]
}
],
"isb_kaviar3": [
{
"version": "4-Feb-2016",
"variants": [
{
"main_data": "ƒ = 0.000219",
"chromo": "chr17",
"variant_id": "10190170075770350002",
"position": 7577035,
"spec": "chr17-7577035-T-C",
"pretty_spec": "chr17:7577035 T⇒C",
"alt": "C",
"ref": "T",
"frequency": 0.000219
},
{
"main_data": "ƒ = 0.000045",
"chromo": "chr17",
"variant_id": "10190170075770530003",
"position": 7577053,
"spec": "chr17-7577053-A-G",
"pretty_spec": "chr17:7577053 A⇒G",
"alt": "G",
"ref": "A",
"frequency": 0.000045
},
{
"main_data": "ƒ = 0.000174",
"chromo": "chr17",
"variant_id": "10190170075770690004",
"position": 7577069,
"spec": "chr17-7577069-C-T",
"pretty_spec": "chr17:7577069 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.000174
},
{
"main_data": "ƒ = 0.0000514",
"chromo": "chr17",
"variant_id": "10190170075770900004",
"position": 7577090,
"spec": "chr17-7577090-C-T",
"pretty_spec": "chr17:7577090 C⇒T",
"alt": "T",
"ref": "C",
"frequency": 0.0000514
},
{
"main_data": "ƒ = 0.00009",
"chromo": "chr17",
"variant_id": "10190170075770910001",
"position": 7577091,
"spec": "chr17-7577091-G-A",
"pretty_spec": "chr17:7577091 G⇒A",
"alt": "A",
"ref": "G",
"frequency": 0.00009
},
{
"main_data": "ƒ = 0.00000643",
"chromo": "chr17",
"variant_id": "10190170075770910004",
"position": 7577091,
"spec": "chr17-7577091-G-T",
"pretty_spec": "chr17:7577091 G⇒T",
"alt": "T",
"ref": "G",
"frequency": 6.43e-6
}
]
}
],
"ncbi_dbsnp": [
{
"version": "build 156",
"variants": [
{
"main_data": "rs1597360140",
"chromo": "chr17",
"variant_id": "10190170075770049018",
"position": 7577004,
"spec": "chr17-7577004-GTCCTGCTTGCTTACCTC-",
"pretty_spec": "chr17:7577004 delGT…TC (18)",
"ref": "GTCCTGCTTGCTTACCTC"
},
{
"main_data": "rs1555525040",
"chromo": "chr17",
"variant_id": "10190170075770099013",
"position": 7577009,
"spec": "chr17-7577009-GCTTGCTTACCTC-",
"pretty_spec": "chr17:7577009 delGC…TC (13)",
"ref": "GCTTGCTTACCTC"
},
{
"main_data": "rs1567546716",
"chromo": "chr17",
"variant_id": "10190170075770189009",
"position": 7577018,
"spec": "chr17-7577018-CCTCGCTTA-",
"pretty_spec": "chr17:7577018 delCCTCGCTTA",
"ref": "CCTCGCTTA"
},
{
"main_data": "rs2151013756",
"chromo": "chr17",
"variant_id": "10190170075770200001",
"position": 7577020,
"spec": "chr17-7577020-T-A",
"pretty_spec": "chr17:7577020 T⇒A",
"alt": "A",
"ref": "T"
},
{
"main_data": "rs2151013756",
"chromo": "chr17",
"variant_id": "10190170075770200002",
"position": 7577020,
"spec": "chr17-7577020-T-C",
"pretty_spec": "chr17:7577020 T⇒C",
"alt": "C",
"ref": "T"
},
{
"main_data": "rs1048095040",
"chromo": "chr17",
"variant_id": "10190170075770210001",
"position": 7577021,
"spec": "chr17-7577021-C-A",
"pretty_spec": "chr17:7577021 C⇒A",
"alt": "A",
"ref": "C"
},
{
"main_data": "rs1048095040",
"chromo": "chr17",
"variant_id": "10190170075770210003",
"position": 7577021,
"spec": "chr17-7577021-C-G",
"pretty_spec": "chr17:7577021 C⇒G",
"alt": "G",
"ref": "C"
},
{
"main_data": "rs1048095040",
"chromo": "chr17",
"variant_id": "10190170075770210004",
"position": 7577021,
"spec": "chr17-7577021-C-T",
"pretty_spec": "chr17:7577021 C⇒T",
"alt": "T",
"ref": "C"
},
{
"main_data": "rs121913344",
"chromo": "chr17",
"variant_id": "10190170075770220001",
"position": 7577022,
"spec": "chr17-7577022-G-A",
"pretty_spec": "chr17:7577022 G⇒A",
"alt": "A",
"ref": "G"
},
{
"main_data": "rs121913344",
"chromo": "chr17",
"variant_id": "10190170075770220002",
"position": 7577022,
"spec": "chr17-7577022-G-C",
"pretty_spec": "chr17:7577022 G⇒C",
"alt": "C",
"ref": "G"
},
{
"main_data": "rs121913344",
"chromo": "chr17",
"variant_id": "10190170075770220004",
"position": 7577022,
"spec": "chr17-7577022-G-T",
"pretty_spec": "chr17:7577022 G⇒T",
"alt": "T",
"ref": "G"
},
{
"main_data": "rs1597360326",
"chromo": "chr17",
"variant_id": "10190170075770220012",
"position": 7577022,
"spec": "chr17-7577022--GCTTAGTG",
"pretty_spec": "chr17:7577021_2 insGCTTAGTG",
"alt": "GCTTAGTG"
},
{
"main_data": "rs2151013818",
"chromo": "chr17",
"variant_id": "10190170075770230004",
"position": 7577023,
"spec": "chr17-7577023-C-T",
"pretty_spec": "chr17:7577023 C⇒T",
"alt": "T",
"ref": "C"
},
{
"main_data": "rs2151013826",
"chromo": "chr17",
"variant_id": "10190170075770240001",
"position": 7577024,
"spec": "chr17-7577024-T-A",
"pretty_spec": "chr17:7577024 T⇒A",
"alt": "A",
"ref": "T"
},
{
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{
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{
"version": "07-Apr-2025",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
"main_data": "uncertain significance **1**",
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{
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{
"main_data": "uncertain significance **1**",
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{
"main_data": "uncertain significance **1**",
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{
"main_data": "pathogenic **1**",
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{
"main_data": "pathogenic **3**",
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577046-C-G",
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{
"main_data": "benign **3**",
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{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577046-C-",
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{
"main_data": "pathogenic **0**",
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"spec": "chr17-7577046-CGTGG-",
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{
"main_data": "likely benign **2**",
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{
"main_data": "uncertain significance **2**",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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"spec": "chr17-7577076--T",
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{
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"spec": "chr17-7577076--TC",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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"spec": "chr17-7577082-CCTC-",
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{
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"spec": "chr17-7577083-C-T",
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{
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{
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{
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{
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{
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"ref": "C"
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{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577085-C-G",
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"ref": "C"
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{
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"spec": "chr17-7577085-C-T",
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{
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"spec": "chr17-7577085--CTGTGCGC",
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{
"main_data": "likely pathogenic **1**",
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"pretty_spec": "chr17:7577085 delCT…GG (27)",
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{
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"spec": "chr17-7577086-T-C",
"pretty_spec": "chr17:7577086 T⇒C",
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"ref": "T"
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{
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"spec": "chr17-7577086-T-G",
"pretty_spec": "chr17:7577086 T⇒G",
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"ref": "T"
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{
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"spec": "chr17-7577087-G-A",
"pretty_spec": "chr17:7577087 G⇒A",
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"ref": "G"
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{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577087-G-C",
"pretty_spec": "chr17:7577087 G⇒C",
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"ref": "G"
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{
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"spec": "chr17-7577087-GTGCGCCGGTCTCT-ATTTGGTCA",
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"ref": "GTGCGCCGGTCTCT"
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577087-GTGC-",
"pretty_spec": "chr17:7577087 delGTGC",
"ref": "GTGC"
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577087-GTGCG-",
"pretty_spec": "chr17:7577087 delGTGCG",
"ref": "GTGCG"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"position": 7577088,
"spec": "chr17-7577088-T-A",
"pretty_spec": "chr17:7577088 T⇒A",
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"ref": "T"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577088-T-C",
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"ref": "T"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577088-T-G",
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"ref": "T"
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{
"main_data": "likely benign **1**",
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"spec": "chr17-7577089-G-C",
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"ref": "G"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577090-C-G",
"pretty_spec": "chr17:7577090 C⇒G",
"alt": "G",
"ref": "C"
},
{
"main_data": "uncertain significance **2**",
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"ref": "C"
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{
"main_data": "likely pathogenic **1**",
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"spec": "chr17-7577090-CGCCGGTCTCT-TG",
"pretty_spec": "chr17:7577090 CG…CT (11)⇒TG",
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"ref": "CGCCGGTCTCT"
},
{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577090--CGCCGGTCTCTCCCAGGA",
"pretty_spec": "chr17:7577089_0 insCG…GA (18)",
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},
{
"main_data": "uncertain significance **1**",
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"position": 7577090,
"spec": "chr17-7577090--CGC",
"pretty_spec": "chr17:7577089_0 insCGC",
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577090-C-GG",
"pretty_spec": "chr17:7577090 C⇒GG",
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{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577090-CG-",
"pretty_spec": "chr17:7577090 delCG",
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{
"main_data": "likely benign **3**",
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"spec": "chr17-7577091-G-A",
"pretty_spec": "chr17:7577091 G⇒A",
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"ref": "G"
},
{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577091-G-C",
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"ref": "G"
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577091-GCCG-CT",
"pretty_spec": "chr17:7577091 GCCG⇒CT",
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"ref": "GCCG"
},
{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577091--G",
"pretty_spec": "chr17:7577090_1 insG",
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},
{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577091-GCCGGTCTCTC-TT",
"pretty_spec": "chr17:7577091 GC…TC (11)⇒TT",
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"ref": "GCCGGTCTCTC"
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{
"main_data": "likely benign **1**",
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"spec": "chr17-7577092-C-G",
"pretty_spec": "chr17:7577092 C⇒G",
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"ref": "C"
},
{
"main_data": "likely benign **2**",
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"spec": "chr17-7577092-C-T",
"pretty_spec": "chr17:7577092 C⇒T",
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"ref": "C"
},
{
"main_data": "uncertain significance **1**",
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"spec": "chr17-7577092--TGT",
"pretty_spec": "chr17:7577091_2 insTGT",
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577092-C-",
"pretty_spec": "chr17:7577092 delC",
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},
{
"main_data": "likely pathogenic **1**",
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"spec": "chr17-7577092-CCGGTCTCT-",
"pretty_spec": "chr17:7577092 delCCGGTCTCT",
"ref": "CCGGTCTCT"
},
{
"main_data": "uncertain significance **3**",
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"spec": "chr17-7577093-C-A",
"pretty_spec": "chr17:7577093 C⇒A",
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"ref": "C"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577093-C-G",
"pretty_spec": "chr17:7577093 C⇒G",
"alt": "G",
"ref": "C"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577093-C-T",
"pretty_spec": "chr17:7577093 C⇒T",
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"ref": "C"
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577093--CTCTTGTG",
"pretty_spec": "chr17:7577092_3 insCTCTTGTG",
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},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577094-G-A",
"pretty_spec": "chr17:7577094 G⇒A",
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"ref": "G"
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{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577094-G-C",
"pretty_spec": "chr17:7577094 G⇒C",
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"ref": "G"
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{
"main_data": "likely benign **2**",
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"spec": "chr17-7577094-G-T",
"pretty_spec": "chr17:7577094 G⇒T",
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"ref": "G"
},
{
"main_data": "uncertain significance **1**",
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"position": 7577094,
"spec": "chr17-7577094--GGT",
"pretty_spec": "chr17:7577093_4 insGGT",
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},
{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577094-G-",
"pretty_spec": "chr17:7577094 delG",
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577094-GGTCTCTCCC-",
"pretty_spec": "chr17:7577094 delGGTCTCTCCC",
"ref": "GGTCTCTCCC"
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{
"main_data": "likely benign **2**",
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"position": 7577095,
"spec": "chr17-7577095-G-A",
"pretty_spec": "chr17:7577095 G⇒A",
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"ref": "G"
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{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577095-G-C",
"pretty_spec": "chr17:7577095 G⇒C",
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"ref": "G"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"position": 7577095,
"spec": "chr17-7577095-G-T",
"pretty_spec": "chr17:7577095 G⇒T",
"alt": "T",
"ref": "G"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577096-T-A",
"pretty_spec": "chr17:7577096 T⇒A",
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"ref": "T"
},
{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577096-T-C",
"pretty_spec": "chr17:7577096 T⇒C",
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"ref": "T"
},
{
"main_data": "likely pathogenic **1**",
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"spec": "chr17-7577096-T-G",
"pretty_spec": "chr17:7577096 T⇒G",
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"ref": "T"
},
{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577096--C",
"pretty_spec": "chr17:7577095_6 insC",
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},
{
"main_data": "pathogenic **2**",
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"spec": "chr17-7577096--TCTC",
"pretty_spec": "chr17:7577095_6 insTCTC",
"alt": "TCTC"
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{
"main_data": "likely pathogenic, pathogenic **2**",
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"position": 7577097,
"spec": "chr17-7577097-C-A",
"pretty_spec": "chr17:7577097 C⇒A",
"alt": "A",
"ref": "C"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577097-C-G",
"pretty_spec": "chr17:7577097 C⇒G",
"alt": "G",
"ref": "C"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577097-C-T",
"pretty_spec": "chr17:7577097 C⇒T",
"alt": "T",
"ref": "C"
},
{
"main_data": "conflicting interpretations of pathogenicity **1**",
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"spec": "chr17-7577098-T-A",
"pretty_spec": "chr17:7577098 T⇒A",
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"ref": "T"
},
{
"main_data": "likely pathogenic, pathogenic **2**",
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"spec": "chr17-7577098-T-G",
"pretty_spec": "chr17:7577098 T⇒G",
"alt": "G",
"ref": "T"
},
{
"main_data": "uncertain significance **1**",
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"position": 7577098,
"spec": "chr17-7577098-TCT-GAG",
"pretty_spec": "chr17:7577098 TCT⇒GAG",
"alt": "GAG",
"ref": "TCT"
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{
"main_data": "pathogenic **1**",
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"spec": "chr17-7577098-TC-",
"pretty_spec": "chr17:7577098 delTC",
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{
"main_data": "pathogenic **1**",
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