Name: rs61335843
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs61335843

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54971996-54972015 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₂ / del(T)₁₀ / del(T)₉ / de…
del(T)₁₂ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₁ / dup(T)₁₃ / dup(T)₁₄ / dup(T)₁₅ / dup(T)₂₀ / ins(T)₂₉
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.1831 (1384/7560, ALFA)
delT=0.4954 (2481/5008, 1000G)
del(T)₇=0.0947 (365/3854, ALSPAC)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NLRP2 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	7560	TTTTTTTTTTTTTTTTTTTT=0.6126	TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0257, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0061, TTTTTTTTTTTTTTTTTTT=0.1831, TTTTTTTTTTTTTTTTTTTTTT=0.1619, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0056, TTTTTTTTTTTTTTTTTTTTT=0.0052, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.68978	0.105812	0.204409	32
European	Sub	7220	TTTTTTTTTTTTTTTTTTTT=0.5963	TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0269, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0064, TTTTTTTTTTTTTTTTTTT=0.1911, TTTTTTTTTTTTTTTTTTTTTT=0.1681, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0058, TTTTTTTTTTTTTTTTTTTTT=0.0054, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.669237	0.112682	0.218081	32
African	Sub	176	TTTTTTTTTTTTTTTTTTTT=0.972	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.028, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	166	TTTTTTTTTTTTTTTTTTTT=0.970	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.030, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	20	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	10	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	36	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	28	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	62	TTTTTTTTTTTTTTTTTTTT=0.85	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.06, TTTTTTTTTTTTTTTTTTTTTT=0.08, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.925926	0.037037	0.037037	7

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7560	(T)₂₀=0.6126	del(T)₁₂=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0257, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0061, delT=0.1831, dupT=0.0052, dupTT=0.1619, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0056
Allele Frequency Aggregator	European	Sub	7220	(T)₂₀=0.5963	del(T)₁₂=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0269, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0064, delT=0.1911, dupT=0.0054, dupTT=0.1681, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0058
Allele Frequency Aggregator	African	Sub	176	(T)₂₀=0.972	del(T)₁₂=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.028, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	62	(T)₂₀=0.85	del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.06, dupT=0.00, dupTT=0.08, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	36	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	28	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	20	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.5046	delT=0.4954
1000Genomes	African	Sub	1322	(T)₂₀=0.4274	delT=0.5726
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.5367	delT=0.4633
1000Genomes	Europe	Sub	1006	(T)₂₀=0.5010	delT=0.4990
1000Genomes	South Asian	Sub	978	(T)₂₀=0.594	delT=0.406
1000Genomes	American	Sub	694	(T)₂₀=0.484	delT=0.516
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₂₀=0.9053	del(T)₇=0.0947

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 19	NC_000019.10:g.54972004_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972006_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972007_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972008_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972009_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972010_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972011_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972012_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972013_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972014_54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972015del
GRCh38.p14 chr 19	NC_000019.10:g.54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972014_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972013_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972012_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972011_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972010_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972009_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972008_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972007_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972005_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972003_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972002_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972001_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54971996_54972015dup
GRCh38.p14 chr 19	NC_000019.10:g.54972015_54972016insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.55483372_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483374_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483375_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483376_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483377_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483378_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483379_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483380_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483381_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483382_55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483383del
GRCh37.p13 chr 19	NC_000019.9:g.55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483382_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483381_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483380_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483379_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483378_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483377_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483376_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483375_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483373_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483371_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483370_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483369_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483364_55483383dup
GRCh37.p13 chr 19	NC_000019.9:g.55483383_55483384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 RefSeqGene	NG_052633.1:g.23875_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23877_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23878_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23879_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23880_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23881_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23882_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23883_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23884_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23885_23886del
NLRP2 RefSeqGene	NG_052633.1:g.23886del
NLRP2 RefSeqGene	NG_052633.1:g.23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23885_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23884_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23883_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23882_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23881_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23880_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23879_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23878_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23876_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23874_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23873_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23872_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23867_23886dup
NLRP2 RefSeqGene	NG_052633.1:g.23886_23887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684165_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684167_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684168_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684169_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684170_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684171_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684172_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684173_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684174_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684175_684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684176del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684175_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684174_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684173_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684172_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684171_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684170_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684169_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684168_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684166_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684164_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684163_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684162_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684157_684176dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684176_684177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684164_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684166_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684167_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684168_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684169_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684170_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684171_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684172_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684173_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684174_684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684175del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684174_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684173_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684172_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684171_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684170_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684169_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684168_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684167_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684165_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684163_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684162_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684161_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684156_684175dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684175_684176insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890369_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890371_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890372_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890373_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890374_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890375_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890376_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890377_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890378_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890379_890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890380del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890379_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890378_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890377_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890376_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890375_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890374_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890373_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890372_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890370_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890368_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890367_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890366_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890361_890380dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890380_890381insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954076_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954078_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954079_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954080_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954081_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954082_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954083_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954084_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954085_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954086_954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954087del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954086_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954085_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954084_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954083_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954082_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954081_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954080_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954079_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954077_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954075_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954074_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954073_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954068_954087dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954087_954088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979527_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979529_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979530_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979531_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979532_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979533_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979534_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979535_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979536_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979537_979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979538del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979537_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979536_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979535_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979534_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979533_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979532_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979531_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979530_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979528_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979526_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979525_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979524_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979519_979538dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979538_979539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951990_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951992_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951993_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951994_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951995_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951996_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951997_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951998_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951999_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.952000_952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.952001del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.952000_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951999_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951998_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951997_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951996_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951995_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951994_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951993_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951991_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951989_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951988_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951987_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951982_952001dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.952001_952002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617206_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617208_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617209_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617210_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617211_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617212_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617213_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617214_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617215_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617216_617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617217del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617216_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617215_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617214_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617213_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617212_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617211_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617210_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617209_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617207_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617205_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617204_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617203_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617198_617217dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617217_617218insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617205_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617207_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617208_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617209_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617210_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617211_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617212_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617213_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617214_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617215_617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617216del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617215_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617214_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617213_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617212_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617211_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617210_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617209_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617208_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617206_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617204_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617203_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617202_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617197_617216dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617216_617217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875402_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875404_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875405_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875406_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875407_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875408_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875409_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875410_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875411_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875412_875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875413del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875412_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875411_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875410_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875409_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875408_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875407_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875406_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875405_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875403_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875401_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875400_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875399_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875394_875413dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875413_875414insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954486_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954488_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954489_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954490_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954491_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954492_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954493_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954494_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954495_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954496_954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954497del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954496_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954495_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954494_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954493_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954492_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954491_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954490_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954489_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954487_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954485_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954484_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954483_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954478_954497dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954497_954498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874759_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874761_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874762_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874763_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874764_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874765_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874766_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874767_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874768_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874769_874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874770del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874769_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874768_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874767_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874766_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874765_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874764_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874763_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874762_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874760_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874758_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874757_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874756_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874751_874770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874770_874771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946372_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946374_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946375_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946376_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946377_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946378_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946379_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946380_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946381_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946382_946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946383del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946382_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946381_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946380_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946379_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946378_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946377_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946376_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946375_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946373_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946371_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946370_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946369_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946364_946383dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946383_946384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: NLRP2, NLR family pyrin domain containing 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NLRP2 transcript variant 2	NM_001174081.3:c.280+1709… NM_001174081.3:c.280+1709_280+1720del	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.280+1709… NM_001174082.3:c.280+1709_280+1720del	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.211+1709… NM_001174083.2:c.211+1709_211+1720del	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.280+1709… NM_001348003.2:c.280+1709_280+1720del	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.280+1709_28… NM_017852.5:c.280+1709_280+1720del	N/A	Intron Variant
NLRP2 transcript variant 6	NR_145325.2:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₂₀=	del(T)₁₂	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₁	dup(T)₁₃	dup(T)₁₄	dup(T)₁₅	dup(T)₂₀	ins(T)₂₉
GRCh38.p14 chr 19	NC_000019.10:g.54971996_54972015=	NC_000019.10:g.54972004_54972015del	NC_000019.10:g.54972006_54972015del	NC_000019.10:g.54972007_54972015del	NC_000019.10:g.54972008_54972015del	NC_000019.10:g.54972009_54972015del	NC_000019.10:g.54972010_54972015del	NC_000019.10:g.54972011_54972015del	NC_000019.10:g.54972012_54972015del	NC_000019.10:g.54972013_54972015del	NC_000019.10:g.54972014_54972015del	NC_000019.10:g.54972015del	NC_000019.10:g.54972015dup	NC_000019.10:g.54972014_54972015dup	NC_000019.10:g.54972013_54972015dup	NC_000019.10:g.54972012_54972015dup	NC_000019.10:g.54972011_54972015dup	NC_000019.10:g.54972010_54972015dup	NC_000019.10:g.54972009_54972015dup	NC_000019.10:g.54972008_54972015dup	NC_000019.10:g.54972007_54972015dup	NC_000019.10:g.54972005_54972015dup	NC_000019.10:g.54972003_54972015dup	NC_000019.10:g.54972002_54972015dup	NC_000019.10:g.54972001_54972015dup	NC_000019.10:g.54971996_54972015dup	NC_000019.10:g.54972015_54972016insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.55483364_55483383=	NC_000019.9:g.55483372_55483383del	NC_000019.9:g.55483374_55483383del	NC_000019.9:g.55483375_55483383del	NC_000019.9:g.55483376_55483383del	NC_000019.9:g.55483377_55483383del	NC_000019.9:g.55483378_55483383del	NC_000019.9:g.55483379_55483383del	NC_000019.9:g.55483380_55483383del	NC_000019.9:g.55483381_55483383del	NC_000019.9:g.55483382_55483383del	NC_000019.9:g.55483383del	NC_000019.9:g.55483383dup	NC_000019.9:g.55483382_55483383dup	NC_000019.9:g.55483381_55483383dup	NC_000019.9:g.55483380_55483383dup	NC_000019.9:g.55483379_55483383dup	NC_000019.9:g.55483378_55483383dup	NC_000019.9:g.55483377_55483383dup	NC_000019.9:g.55483376_55483383dup	NC_000019.9:g.55483375_55483383dup	NC_000019.9:g.55483373_55483383dup	NC_000019.9:g.55483371_55483383dup	NC_000019.9:g.55483370_55483383dup	NC_000019.9:g.55483369_55483383dup	NC_000019.9:g.55483364_55483383dup	NC_000019.9:g.55483383_55483384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 RefSeqGene	NG_052633.1:g.23867_23886=	NG_052633.1:g.23875_23886del	NG_052633.1:g.23877_23886del	NG_052633.1:g.23878_23886del	NG_052633.1:g.23879_23886del	NG_052633.1:g.23880_23886del	NG_052633.1:g.23881_23886del	NG_052633.1:g.23882_23886del	NG_052633.1:g.23883_23886del	NG_052633.1:g.23884_23886del	NG_052633.1:g.23885_23886del	NG_052633.1:g.23886del	NG_052633.1:g.23886dup	NG_052633.1:g.23885_23886dup	NG_052633.1:g.23884_23886dup	NG_052633.1:g.23883_23886dup	NG_052633.1:g.23882_23886dup	NG_052633.1:g.23881_23886dup	NG_052633.1:g.23880_23886dup	NG_052633.1:g.23879_23886dup	NG_052633.1:g.23878_23886dup	NG_052633.1:g.23876_23886dup	NG_052633.1:g.23874_23886dup	NG_052633.1:g.23873_23886dup	NG_052633.1:g.23872_23886dup	NG_052633.1:g.23867_23886dup	NG_052633.1:g.23886_23887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.684157_684176=	NW_003571061.2:g.684165_684176del	NW_003571061.2:g.684167_684176del	NW_003571061.2:g.684168_684176del	NW_003571061.2:g.684169_684176del	NW_003571061.2:g.684170_684176del	NW_003571061.2:g.684171_684176del	NW_003571061.2:g.684172_684176del	NW_003571061.2:g.684173_684176del	NW_003571061.2:g.684174_684176del	NW_003571061.2:g.684175_684176del	NW_003571061.2:g.684176del	NW_003571061.2:g.684176dup	NW_003571061.2:g.684175_684176dup	NW_003571061.2:g.684174_684176dup	NW_003571061.2:g.684173_684176dup	NW_003571061.2:g.684172_684176dup	NW_003571061.2:g.684171_684176dup	NW_003571061.2:g.684170_684176dup	NW_003571061.2:g.684169_684176dup	NW_003571061.2:g.684168_684176dup	NW_003571061.2:g.684166_684176dup	NW_003571061.2:g.684164_684176dup	NW_003571061.2:g.684163_684176dup	NW_003571061.2:g.684162_684176dup	NW_003571061.2:g.684157_684176dup	NW_003571061.2:g.684176_684177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.684156_684175=	NW_003571061.1:g.684164_684175del	NW_003571061.1:g.684166_684175del	NW_003571061.1:g.684167_684175del	NW_003571061.1:g.684168_684175del	NW_003571061.1:g.684169_684175del	NW_003571061.1:g.684170_684175del	NW_003571061.1:g.684171_684175del	NW_003571061.1:g.684172_684175del	NW_003571061.1:g.684173_684175del	NW_003571061.1:g.684174_684175del	NW_003571061.1:g.684175del	NW_003571061.1:g.684175dup	NW_003571061.1:g.684174_684175dup	NW_003571061.1:g.684173_684175dup	NW_003571061.1:g.684172_684175dup	NW_003571061.1:g.684171_684175dup	NW_003571061.1:g.684170_684175dup	NW_003571061.1:g.684169_684175dup	NW_003571061.1:g.684168_684175dup	NW_003571061.1:g.684167_684175dup	NW_003571061.1:g.684165_684175dup	NW_003571061.1:g.684163_684175dup	NW_003571061.1:g.684162_684175dup	NW_003571061.1:g.684161_684175dup	NW_003571061.1:g.684156_684175dup	NW_003571061.1:g.684175_684176insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.890361_890380=	NW_003571059.2:g.890369_890380del	NW_003571059.2:g.890371_890380del	NW_003571059.2:g.890372_890380del	NW_003571059.2:g.890373_890380del	NW_003571059.2:g.890374_890380del	NW_003571059.2:g.890375_890380del	NW_003571059.2:g.890376_890380del	NW_003571059.2:g.890377_890380del	NW_003571059.2:g.890378_890380del	NW_003571059.2:g.890379_890380del	NW_003571059.2:g.890380del	NW_003571059.2:g.890380dup	NW_003571059.2:g.890379_890380dup	NW_003571059.2:g.890378_890380dup	NW_003571059.2:g.890377_890380dup	NW_003571059.2:g.890376_890380dup	NW_003571059.2:g.890375_890380dup	NW_003571059.2:g.890374_890380dup	NW_003571059.2:g.890373_890380dup	NW_003571059.2:g.890372_890380dup	NW_003571059.2:g.890370_890380dup	NW_003571059.2:g.890368_890380dup	NW_003571059.2:g.890367_890380dup	NW_003571059.2:g.890366_890380dup	NW_003571059.2:g.890361_890380dup	NW_003571059.2:g.890380_890381insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.954068_954087=	NW_003571058.2:g.954076_954087del	NW_003571058.2:g.954078_954087del	NW_003571058.2:g.954079_954087del	NW_003571058.2:g.954080_954087del	NW_003571058.2:g.954081_954087del	NW_003571058.2:g.954082_954087del	NW_003571058.2:g.954083_954087del	NW_003571058.2:g.954084_954087del	NW_003571058.2:g.954085_954087del	NW_003571058.2:g.954086_954087del	NW_003571058.2:g.954087del	NW_003571058.2:g.954087dup	NW_003571058.2:g.954086_954087dup	NW_003571058.2:g.954085_954087dup	NW_003571058.2:g.954084_954087dup	NW_003571058.2:g.954083_954087dup	NW_003571058.2:g.954082_954087dup	NW_003571058.2:g.954081_954087dup	NW_003571058.2:g.954080_954087dup	NW_003571058.2:g.954079_954087dup	NW_003571058.2:g.954077_954087dup	NW_003571058.2:g.954075_954087dup	NW_003571058.2:g.954074_954087dup	NW_003571058.2:g.954073_954087dup	NW_003571058.2:g.954068_954087dup	NW_003571058.2:g.954087_954088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.979519_979538=	NW_003571057.2:g.979527_979538del	NW_003571057.2:g.979529_979538del	NW_003571057.2:g.979530_979538del	NW_003571057.2:g.979531_979538del	NW_003571057.2:g.979532_979538del	NW_003571057.2:g.979533_979538del	NW_003571057.2:g.979534_979538del	NW_003571057.2:g.979535_979538del	NW_003571057.2:g.979536_979538del	NW_003571057.2:g.979537_979538del	NW_003571057.2:g.979538del	NW_003571057.2:g.979538dup	NW_003571057.2:g.979537_979538dup	NW_003571057.2:g.979536_979538dup	NW_003571057.2:g.979535_979538dup	NW_003571057.2:g.979534_979538dup	NW_003571057.2:g.979533_979538dup	NW_003571057.2:g.979532_979538dup	NW_003571057.2:g.979531_979538dup	NW_003571057.2:g.979530_979538dup	NW_003571057.2:g.979528_979538dup	NW_003571057.2:g.979526_979538dup	NW_003571057.2:g.979525_979538dup	NW_003571057.2:g.979524_979538dup	NW_003571057.2:g.979519_979538dup	NW_003571057.2:g.979538_979539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.951982_952001=	NW_003571056.2:g.951990_952001del	NW_003571056.2:g.951992_952001del	NW_003571056.2:g.951993_952001del	NW_003571056.2:g.951994_952001del	NW_003571056.2:g.951995_952001del	NW_003571056.2:g.951996_952001del	NW_003571056.2:g.951997_952001del	NW_003571056.2:g.951998_952001del	NW_003571056.2:g.951999_952001del	NW_003571056.2:g.952000_952001del	NW_003571056.2:g.952001del	NW_003571056.2:g.952001dup	NW_003571056.2:g.952000_952001dup	NW_003571056.2:g.951999_952001dup	NW_003571056.2:g.951998_952001dup	NW_003571056.2:g.951997_952001dup	NW_003571056.2:g.951996_952001dup	NW_003571056.2:g.951995_952001dup	NW_003571056.2:g.951994_952001dup	NW_003571056.2:g.951993_952001dup	NW_003571056.2:g.951991_952001dup	NW_003571056.2:g.951989_952001dup	NW_003571056.2:g.951988_952001dup	NW_003571056.2:g.951987_952001dup	NW_003571056.2:g.951982_952001dup	NW_003571056.2:g.952001_952002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.617198_617217=	NW_003571055.2:g.617206_617217del	NW_003571055.2:g.617208_617217del	NW_003571055.2:g.617209_617217del	NW_003571055.2:g.617210_617217del	NW_003571055.2:g.617211_617217del	NW_003571055.2:g.617212_617217del	NW_003571055.2:g.617213_617217del	NW_003571055.2:g.617214_617217del	NW_003571055.2:g.617215_617217del	NW_003571055.2:g.617216_617217del	NW_003571055.2:g.617217del	NW_003571055.2:g.617217dup	NW_003571055.2:g.617216_617217dup	NW_003571055.2:g.617215_617217dup	NW_003571055.2:g.617214_617217dup	NW_003571055.2:g.617213_617217dup	NW_003571055.2:g.617212_617217dup	NW_003571055.2:g.617211_617217dup	NW_003571055.2:g.617210_617217dup	NW_003571055.2:g.617209_617217dup	NW_003571055.2:g.617207_617217dup	NW_003571055.2:g.617205_617217dup	NW_003571055.2:g.617204_617217dup	NW_003571055.2:g.617203_617217dup	NW_003571055.2:g.617198_617217dup	NW_003571055.2:g.617217_617218insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.617197_617216=	NW_003571055.1:g.617205_617216del	NW_003571055.1:g.617207_617216del	NW_003571055.1:g.617208_617216del	NW_003571055.1:g.617209_617216del	NW_003571055.1:g.617210_617216del	NW_003571055.1:g.617211_617216del	NW_003571055.1:g.617212_617216del	NW_003571055.1:g.617213_617216del	NW_003571055.1:g.617214_617216del	NW_003571055.1:g.617215_617216del	NW_003571055.1:g.617216del	NW_003571055.1:g.617216dup	NW_003571055.1:g.617215_617216dup	NW_003571055.1:g.617214_617216dup	NW_003571055.1:g.617213_617216dup	NW_003571055.1:g.617212_617216dup	NW_003571055.1:g.617211_617216dup	NW_003571055.1:g.617210_617216dup	NW_003571055.1:g.617209_617216dup	NW_003571055.1:g.617208_617216dup	NW_003571055.1:g.617206_617216dup	NW_003571055.1:g.617204_617216dup	NW_003571055.1:g.617203_617216dup	NW_003571055.1:g.617202_617216dup	NW_003571055.1:g.617197_617216dup	NW_003571055.1:g.617216_617217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.875394_875413=	NW_003571054.1:g.875402_875413del	NW_003571054.1:g.875404_875413del	NW_003571054.1:g.875405_875413del	NW_003571054.1:g.875406_875413del	NW_003571054.1:g.875407_875413del	NW_003571054.1:g.875408_875413del	NW_003571054.1:g.875409_875413del	NW_003571054.1:g.875410_875413del	NW_003571054.1:g.875411_875413del	NW_003571054.1:g.875412_875413del	NW_003571054.1:g.875413del	NW_003571054.1:g.875413dup	NW_003571054.1:g.875412_875413dup	NW_003571054.1:g.875411_875413dup	NW_003571054.1:g.875410_875413dup	NW_003571054.1:g.875409_875413dup	NW_003571054.1:g.875408_875413dup	NW_003571054.1:g.875407_875413dup	NW_003571054.1:g.875406_875413dup	NW_003571054.1:g.875405_875413dup	NW_003571054.1:g.875403_875413dup	NW_003571054.1:g.875401_875413dup	NW_003571054.1:g.875400_875413dup	NW_003571054.1:g.875399_875413dup	NW_003571054.1:g.875394_875413dup	NW_003571054.1:g.875413_875414insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.954478_954497=	NT_187693.1:g.954486_954497del	NT_187693.1:g.954488_954497del	NT_187693.1:g.954489_954497del	NT_187693.1:g.954490_954497del	NT_187693.1:g.954491_954497del	NT_187693.1:g.954492_954497del	NT_187693.1:g.954493_954497del	NT_187693.1:g.954494_954497del	NT_187693.1:g.954495_954497del	NT_187693.1:g.954496_954497del	NT_187693.1:g.954497del	NT_187693.1:g.954497dup	NT_187693.1:g.954496_954497dup	NT_187693.1:g.954495_954497dup	NT_187693.1:g.954494_954497dup	NT_187693.1:g.954493_954497dup	NT_187693.1:g.954492_954497dup	NT_187693.1:g.954491_954497dup	NT_187693.1:g.954490_954497dup	NT_187693.1:g.954489_954497dup	NT_187693.1:g.954487_954497dup	NT_187693.1:g.954485_954497dup	NT_187693.1:g.954484_954497dup	NT_187693.1:g.954483_954497dup	NT_187693.1:g.954478_954497dup	NT_187693.1:g.954497_954498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.874749_874770=	NW_003571060.1:g.874759_874770del	NW_003571060.1:g.874761_874770del	NW_003571060.1:g.874762_874770del	NW_003571060.1:g.874763_874770del	NW_003571060.1:g.874764_874770del	NW_003571060.1:g.874765_874770del	NW_003571060.1:g.874766_874770del	NW_003571060.1:g.874767_874770del	NW_003571060.1:g.874768_874770del	NW_003571060.1:g.874769_874770del	NW_003571060.1:g.874770del	NW_003571060.1:g.874770dup	NW_003571060.1:g.874769_874770dup	NW_003571060.1:g.874768_874770dup	NW_003571060.1:g.874767_874770dup	NW_003571060.1:g.874766_874770dup	NW_003571060.1:g.874765_874770dup	NW_003571060.1:g.874764_874770dup	NW_003571060.1:g.874763_874770dup	NW_003571060.1:g.874762_874770dup	NW_003571060.1:g.874760_874770dup	NW_003571060.1:g.874758_874770dup	NW_003571060.1:g.874757_874770dup	NW_003571060.1:g.874756_874770dup	NW_003571060.1:g.874751_874770dup	NW_003571060.1:g.874770_874771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.946364_946383=	NW_004166865.1:g.946372_946383del	NW_004166865.1:g.946374_946383del	NW_004166865.1:g.946375_946383del	NW_004166865.1:g.946376_946383del	NW_004166865.1:g.946377_946383del	NW_004166865.1:g.946378_946383del	NW_004166865.1:g.946379_946383del	NW_004166865.1:g.946380_946383del	NW_004166865.1:g.946381_946383del	NW_004166865.1:g.946382_946383del	NW_004166865.1:g.946383del	NW_004166865.1:g.946383dup	NW_004166865.1:g.946382_946383dup	NW_004166865.1:g.946381_946383dup	NW_004166865.1:g.946380_946383dup	NW_004166865.1:g.946379_946383dup	NW_004166865.1:g.946378_946383dup	NW_004166865.1:g.946377_946383dup	NW_004166865.1:g.946376_946383dup	NW_004166865.1:g.946375_946383dup	NW_004166865.1:g.946373_946383dup	NW_004166865.1:g.946371_946383dup	NW_004166865.1:g.946370_946383dup	NW_004166865.1:g.946369_946383dup	NW_004166865.1:g.946364_946383dup	NW_004166865.1:g.946383_946384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 2	NM_001174081.1:c.280+1701=	NM_001174081.1:c.280+1709_280+1720del	NM_001174081.1:c.280+1711_280+1720del	NM_001174081.1:c.280+1712_280+1720del	NM_001174081.1:c.280+1713_280+1720del	NM_001174081.1:c.280+1714_280+1720del	NM_001174081.1:c.280+1715_280+1720del	NM_001174081.1:c.280+1716_280+1720del	NM_001174081.1:c.280+1717_280+1720del	NM_001174081.1:c.280+1718_280+1720del	NM_001174081.1:c.280+1719_280+1720del	NM_001174081.1:c.280+1720del	NM_001174081.1:c.280+1720dup	NM_001174081.1:c.280+1719_280+1720dup	NM_001174081.1:c.280+1718_280+1720dup	NM_001174081.1:c.280+1717_280+1720dup	NM_001174081.1:c.280+1716_280+1720dup	NM_001174081.1:c.280+1715_280+1720dup	NM_001174081.1:c.280+1714_280+1720dup	NM_001174081.1:c.280+1713_280+1720dup	NM_001174081.1:c.280+1712_280+1720dup	NM_001174081.1:c.280+1710_280+1720dup	NM_001174081.1:c.280+1708_280+1720dup	NM_001174081.1:c.280+1707_280+1720dup	NM_001174081.1:c.280+1706_280+1720dup	NM_001174081.1:c.280+1701_280+1720dup	NM_001174081.1:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 2	NM_001174081.3:c.280+1701=	NM_001174081.3:c.280+1709_280+1720del	NM_001174081.3:c.280+1711_280+1720del	NM_001174081.3:c.280+1712_280+1720del	NM_001174081.3:c.280+1713_280+1720del	NM_001174081.3:c.280+1714_280+1720del	NM_001174081.3:c.280+1715_280+1720del	NM_001174081.3:c.280+1716_280+1720del	NM_001174081.3:c.280+1717_280+1720del	NM_001174081.3:c.280+1718_280+1720del	NM_001174081.3:c.280+1719_280+1720del	NM_001174081.3:c.280+1720del	NM_001174081.3:c.280+1720dup	NM_001174081.3:c.280+1719_280+1720dup	NM_001174081.3:c.280+1718_280+1720dup	NM_001174081.3:c.280+1717_280+1720dup	NM_001174081.3:c.280+1716_280+1720dup	NM_001174081.3:c.280+1715_280+1720dup	NM_001174081.3:c.280+1714_280+1720dup	NM_001174081.3:c.280+1713_280+1720dup	NM_001174081.3:c.280+1712_280+1720dup	NM_001174081.3:c.280+1710_280+1720dup	NM_001174081.3:c.280+1708_280+1720dup	NM_001174081.3:c.280+1707_280+1720dup	NM_001174081.3:c.280+1706_280+1720dup	NM_001174081.3:c.280+1701_280+1720dup	NM_001174081.3:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 3	NM_001174082.1:c.280+1701=	NM_001174082.1:c.280+1709_280+1720del	NM_001174082.1:c.280+1711_280+1720del	NM_001174082.1:c.280+1712_280+1720del	NM_001174082.1:c.280+1713_280+1720del	NM_001174082.1:c.280+1714_280+1720del	NM_001174082.1:c.280+1715_280+1720del	NM_001174082.1:c.280+1716_280+1720del	NM_001174082.1:c.280+1717_280+1720del	NM_001174082.1:c.280+1718_280+1720del	NM_001174082.1:c.280+1719_280+1720del	NM_001174082.1:c.280+1720del	NM_001174082.1:c.280+1720dup	NM_001174082.1:c.280+1719_280+1720dup	NM_001174082.1:c.280+1718_280+1720dup	NM_001174082.1:c.280+1717_280+1720dup	NM_001174082.1:c.280+1716_280+1720dup	NM_001174082.1:c.280+1715_280+1720dup	NM_001174082.1:c.280+1714_280+1720dup	NM_001174082.1:c.280+1713_280+1720dup	NM_001174082.1:c.280+1712_280+1720dup	NM_001174082.1:c.280+1710_280+1720dup	NM_001174082.1:c.280+1708_280+1720dup	NM_001174082.1:c.280+1707_280+1720dup	NM_001174082.1:c.280+1706_280+1720dup	NM_001174082.1:c.280+1701_280+1720dup	NM_001174082.1:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 3	NM_001174082.3:c.280+1701=	NM_001174082.3:c.280+1709_280+1720del	NM_001174082.3:c.280+1711_280+1720del	NM_001174082.3:c.280+1712_280+1720del	NM_001174082.3:c.280+1713_280+1720del	NM_001174082.3:c.280+1714_280+1720del	NM_001174082.3:c.280+1715_280+1720del	NM_001174082.3:c.280+1716_280+1720del	NM_001174082.3:c.280+1717_280+1720del	NM_001174082.3:c.280+1718_280+1720del	NM_001174082.3:c.280+1719_280+1720del	NM_001174082.3:c.280+1720del	NM_001174082.3:c.280+1720dup	NM_001174082.3:c.280+1719_280+1720dup	NM_001174082.3:c.280+1718_280+1720dup	NM_001174082.3:c.280+1717_280+1720dup	NM_001174082.3:c.280+1716_280+1720dup	NM_001174082.3:c.280+1715_280+1720dup	NM_001174082.3:c.280+1714_280+1720dup	NM_001174082.3:c.280+1713_280+1720dup	NM_001174082.3:c.280+1712_280+1720dup	NM_001174082.3:c.280+1710_280+1720dup	NM_001174082.3:c.280+1708_280+1720dup	NM_001174082.3:c.280+1707_280+1720dup	NM_001174082.3:c.280+1706_280+1720dup	NM_001174082.3:c.280+1701_280+1720dup	NM_001174082.3:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 4	NM_001174083.1:c.211+1701=	NM_001174083.1:c.211+1709_211+1720del	NM_001174083.1:c.211+1711_211+1720del	NM_001174083.1:c.211+1712_211+1720del	NM_001174083.1:c.211+1713_211+1720del	NM_001174083.1:c.211+1714_211+1720del	NM_001174083.1:c.211+1715_211+1720del	NM_001174083.1:c.211+1716_211+1720del	NM_001174083.1:c.211+1717_211+1720del	NM_001174083.1:c.211+1718_211+1720del	NM_001174083.1:c.211+1719_211+1720del	NM_001174083.1:c.211+1720del	NM_001174083.1:c.211+1720dup	NM_001174083.1:c.211+1719_211+1720dup	NM_001174083.1:c.211+1718_211+1720dup	NM_001174083.1:c.211+1717_211+1720dup	NM_001174083.1:c.211+1716_211+1720dup	NM_001174083.1:c.211+1715_211+1720dup	NM_001174083.1:c.211+1714_211+1720dup	NM_001174083.1:c.211+1713_211+1720dup	NM_001174083.1:c.211+1712_211+1720dup	NM_001174083.1:c.211+1710_211+1720dup	NM_001174083.1:c.211+1708_211+1720dup	NM_001174083.1:c.211+1707_211+1720dup	NM_001174083.1:c.211+1706_211+1720dup	NM_001174083.1:c.211+1701_211+1720dup	NM_001174083.1:c.211+1720_211+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 4	NM_001174083.2:c.211+1701=	NM_001174083.2:c.211+1709_211+1720del	NM_001174083.2:c.211+1711_211+1720del	NM_001174083.2:c.211+1712_211+1720del	NM_001174083.2:c.211+1713_211+1720del	NM_001174083.2:c.211+1714_211+1720del	NM_001174083.2:c.211+1715_211+1720del	NM_001174083.2:c.211+1716_211+1720del	NM_001174083.2:c.211+1717_211+1720del	NM_001174083.2:c.211+1718_211+1720del	NM_001174083.2:c.211+1719_211+1720del	NM_001174083.2:c.211+1720del	NM_001174083.2:c.211+1720dup	NM_001174083.2:c.211+1719_211+1720dup	NM_001174083.2:c.211+1718_211+1720dup	NM_001174083.2:c.211+1717_211+1720dup	NM_001174083.2:c.211+1716_211+1720dup	NM_001174083.2:c.211+1715_211+1720dup	NM_001174083.2:c.211+1714_211+1720dup	NM_001174083.2:c.211+1713_211+1720dup	NM_001174083.2:c.211+1712_211+1720dup	NM_001174083.2:c.211+1710_211+1720dup	NM_001174083.2:c.211+1708_211+1720dup	NM_001174083.2:c.211+1707_211+1720dup	NM_001174083.2:c.211+1706_211+1720dup	NM_001174083.2:c.211+1701_211+1720dup	NM_001174083.2:c.211+1720_211+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 5	NM_001348003.2:c.280+1701=	NM_001348003.2:c.280+1709_280+1720del	NM_001348003.2:c.280+1711_280+1720del	NM_001348003.2:c.280+1712_280+1720del	NM_001348003.2:c.280+1713_280+1720del	NM_001348003.2:c.280+1714_280+1720del	NM_001348003.2:c.280+1715_280+1720del	NM_001348003.2:c.280+1716_280+1720del	NM_001348003.2:c.280+1717_280+1720del	NM_001348003.2:c.280+1718_280+1720del	NM_001348003.2:c.280+1719_280+1720del	NM_001348003.2:c.280+1720del	NM_001348003.2:c.280+1720dup	NM_001348003.2:c.280+1719_280+1720dup	NM_001348003.2:c.280+1718_280+1720dup	NM_001348003.2:c.280+1717_280+1720dup	NM_001348003.2:c.280+1716_280+1720dup	NM_001348003.2:c.280+1715_280+1720dup	NM_001348003.2:c.280+1714_280+1720dup	NM_001348003.2:c.280+1713_280+1720dup	NM_001348003.2:c.280+1712_280+1720dup	NM_001348003.2:c.280+1710_280+1720dup	NM_001348003.2:c.280+1708_280+1720dup	NM_001348003.2:c.280+1707_280+1720dup	NM_001348003.2:c.280+1706_280+1720dup	NM_001348003.2:c.280+1701_280+1720dup	NM_001348003.2:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 1	NM_017852.3:c.280+1701=	NM_017852.3:c.280+1709_280+1720del	NM_017852.3:c.280+1711_280+1720del	NM_017852.3:c.280+1712_280+1720del	NM_017852.3:c.280+1713_280+1720del	NM_017852.3:c.280+1714_280+1720del	NM_017852.3:c.280+1715_280+1720del	NM_017852.3:c.280+1716_280+1720del	NM_017852.3:c.280+1717_280+1720del	NM_017852.3:c.280+1718_280+1720del	NM_017852.3:c.280+1719_280+1720del	NM_017852.3:c.280+1720del	NM_017852.3:c.280+1720dup	NM_017852.3:c.280+1719_280+1720dup	NM_017852.3:c.280+1718_280+1720dup	NM_017852.3:c.280+1717_280+1720dup	NM_017852.3:c.280+1716_280+1720dup	NM_017852.3:c.280+1715_280+1720dup	NM_017852.3:c.280+1714_280+1720dup	NM_017852.3:c.280+1713_280+1720dup	NM_017852.3:c.280+1712_280+1720dup	NM_017852.3:c.280+1710_280+1720dup	NM_017852.3:c.280+1708_280+1720dup	NM_017852.3:c.280+1707_280+1720dup	NM_017852.3:c.280+1706_280+1720dup	NM_017852.3:c.280+1701_280+1720dup	NM_017852.3:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 1	NM_017852.5:c.280+1701=	NM_017852.5:c.280+1709_280+1720del	NM_017852.5:c.280+1711_280+1720del	NM_017852.5:c.280+1712_280+1720del	NM_017852.5:c.280+1713_280+1720del	NM_017852.5:c.280+1714_280+1720del	NM_017852.5:c.280+1715_280+1720del	NM_017852.5:c.280+1716_280+1720del	NM_017852.5:c.280+1717_280+1720del	NM_017852.5:c.280+1718_280+1720del	NM_017852.5:c.280+1719_280+1720del	NM_017852.5:c.280+1720del	NM_017852.5:c.280+1720dup	NM_017852.5:c.280+1719_280+1720dup	NM_017852.5:c.280+1718_280+1720dup	NM_017852.5:c.280+1717_280+1720dup	NM_017852.5:c.280+1716_280+1720dup	NM_017852.5:c.280+1715_280+1720dup	NM_017852.5:c.280+1714_280+1720dup	NM_017852.5:c.280+1713_280+1720dup	NM_017852.5:c.280+1712_280+1720dup	NM_017852.5:c.280+1710_280+1720dup	NM_017852.5:c.280+1708_280+1720dup	NM_017852.5:c.280+1707_280+1720dup	NM_017852.5:c.280+1706_280+1720dup	NM_017852.5:c.280+1701_280+1720dup	NM_017852.5:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X1	XM_005259050.1:c.280+1701=	XM_005259050.1:c.280+1709_280+1720del	XM_005259050.1:c.280+1711_280+1720del	XM_005259050.1:c.280+1712_280+1720del	XM_005259050.1:c.280+1713_280+1720del	XM_005259050.1:c.280+1714_280+1720del	XM_005259050.1:c.280+1715_280+1720del	XM_005259050.1:c.280+1716_280+1720del	XM_005259050.1:c.280+1717_280+1720del	XM_005259050.1:c.280+1718_280+1720del	XM_005259050.1:c.280+1719_280+1720del	XM_005259050.1:c.280+1720del	XM_005259050.1:c.280+1720dup	XM_005259050.1:c.280+1719_280+1720dup	XM_005259050.1:c.280+1718_280+1720dup	XM_005259050.1:c.280+1717_280+1720dup	XM_005259050.1:c.280+1716_280+1720dup	XM_005259050.1:c.280+1715_280+1720dup	XM_005259050.1:c.280+1714_280+1720dup	XM_005259050.1:c.280+1713_280+1720dup	XM_005259050.1:c.280+1712_280+1720dup	XM_005259050.1:c.280+1710_280+1720dup	XM_005259050.1:c.280+1708_280+1720dup	XM_005259050.1:c.280+1707_280+1720dup	XM_005259050.1:c.280+1706_280+1720dup	XM_005259050.1:c.280+1701_280+1720dup	XM_005259050.1:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X2	XM_005277121.1:c.280+1701=	XM_005277121.1:c.280+1709_280+1720del	XM_005277121.1:c.280+1711_280+1720del	XM_005277121.1:c.280+1712_280+1720del	XM_005277121.1:c.280+1713_280+1720del	XM_005277121.1:c.280+1714_280+1720del	XM_005277121.1:c.280+1715_280+1720del	XM_005277121.1:c.280+1716_280+1720del	XM_005277121.1:c.280+1717_280+1720del	XM_005277121.1:c.280+1718_280+1720del	XM_005277121.1:c.280+1719_280+1720del	XM_005277121.1:c.280+1720del	XM_005277121.1:c.280+1720dup	XM_005277121.1:c.280+1719_280+1720dup	XM_005277121.1:c.280+1718_280+1720dup	XM_005277121.1:c.280+1717_280+1720dup	XM_005277121.1:c.280+1716_280+1720dup	XM_005277121.1:c.280+1715_280+1720dup	XM_005277121.1:c.280+1714_280+1720dup	XM_005277121.1:c.280+1713_280+1720dup	XM_005277121.1:c.280+1712_280+1720dup	XM_005277121.1:c.280+1710_280+1720dup	XM_005277121.1:c.280+1708_280+1720dup	XM_005277121.1:c.280+1707_280+1720dup	XM_005277121.1:c.280+1706_280+1720dup	XM_005277121.1:c.280+1701_280+1720dup	XM_005277121.1:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X9	XM_005278284.1:c.280+1701=	XM_005278284.1:c.280+1709_280+1720del	XM_005278284.1:c.280+1711_280+1720del	XM_005278284.1:c.280+1712_280+1720del	XM_005278284.1:c.280+1713_280+1720del	XM_005278284.1:c.280+1714_280+1720del	XM_005278284.1:c.280+1715_280+1720del	XM_005278284.1:c.280+1716_280+1720del	XM_005278284.1:c.280+1717_280+1720del	XM_005278284.1:c.280+1718_280+1720del	XM_005278284.1:c.280+1719_280+1720del	XM_005278284.1:c.280+1720del	XM_005278284.1:c.280+1720dup	XM_005278284.1:c.280+1719_280+1720dup	XM_005278284.1:c.280+1718_280+1720dup	XM_005278284.1:c.280+1717_280+1720dup	XM_005278284.1:c.280+1716_280+1720dup	XM_005278284.1:c.280+1715_280+1720dup	XM_005278284.1:c.280+1714_280+1720dup	XM_005278284.1:c.280+1713_280+1720dup	XM_005278284.1:c.280+1712_280+1720dup	XM_005278284.1:c.280+1710_280+1720dup	XM_005278284.1:c.280+1708_280+1720dup	XM_005278284.1:c.280+1707_280+1720dup	XM_005278284.1:c.280+1706_280+1720dup	XM_005278284.1:c.280+1701_280+1720dup	XM_005278284.1:c.280+1720_280+1721insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

74 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77851702	Oct 12, 2018 (152)
2	HGSV	ss77943384	Oct 12, 2018 (152)
3	HGSV	ss81864818	Aug 21, 2014 (142)
4	HUMANGENOME_JCVI	ss95732602	Feb 06, 2009 (130)
5	HUMANGENOME_JCVI	ss96283046	Feb 06, 2009 (130)
6	PJP	ss294967971	May 09, 2011 (134)
7	BILGI_BIOE	ss666736043	Apr 25, 2013 (138)
8	1000GENOMES	ss1378270160	Aug 21, 2014 (142)
9	EVA_UK10K_TWINSUK	ss1709252826	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1709252833	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710799593	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710799594	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710799595	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1710799596	Apr 01, 2015 (144)
15	SWEGEN	ss3017690672	Nov 08, 2017 (151)
16	MCHAISSO	ss3063921534	Jan 10, 2018 (151)
17	EVA_DECODE	ss3703019363	Jul 13, 2019 (153)
18	EVA_DECODE	ss3703019364	Jul 13, 2019 (153)
19	EVA_DECODE	ss3703019365	Jul 13, 2019 (153)
20	EVA_DECODE	ss3703019366	Jul 13, 2019 (153)
21	EVA_DECODE	ss3703019367	Jul 13, 2019 (153)
22	EVA_DECODE	ss3703019368	Jul 13, 2019 (153)
23	PACBIO	ss3788567913	Jul 13, 2019 (153)
24	PACBIO	ss3793472387	Jul 13, 2019 (153)
25	PACBIO	ss3798359467	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3821462120	Jul 13, 2019 (153)
27	EVA	ss3835528507	Apr 27, 2020 (154)
28	GNOMAD	ss4333307293	Apr 27, 2021 (155)
29	GNOMAD	ss4333307294	Apr 27, 2021 (155)
30	GNOMAD	ss4333307295	Apr 27, 2021 (155)
31	GNOMAD	ss4333307296	Apr 27, 2021 (155)
32	GNOMAD	ss4333307297	Apr 27, 2021 (155)
33	GNOMAD	ss4333307298	Apr 27, 2021 (155)
34	GNOMAD	ss4333307299	Apr 27, 2021 (155)
35	GNOMAD	ss4333307300	Apr 27, 2021 (155)
36	GNOMAD	ss4333307301	Apr 27, 2021 (155)
37	GNOMAD	ss4333307302	Apr 27, 2021 (155)
38	GNOMAD	ss4333307303	Apr 27, 2021 (155)
39	GNOMAD	ss4333307304	Apr 27, 2021 (155)
40	GNOMAD	ss4333307305	Apr 27, 2021 (155)
41	GNOMAD	ss4333307306	Apr 27, 2021 (155)
42	GNOMAD	ss4333307307	Apr 27, 2021 (155)
43	GNOMAD	ss4333307308	Apr 27, 2021 (155)
44	GNOMAD	ss4333307309	Apr 27, 2021 (155)
45	GNOMAD	ss4333307310	Apr 27, 2021 (155)
46	GNOMAD	ss4333307311	Apr 27, 2021 (155)
47	GNOMAD	ss4333307312	Apr 27, 2021 (155)
48	GNOMAD	ss4333307313	Apr 27, 2021 (155)
49	GNOMAD	ss4333307314	Apr 27, 2021 (155)
50	GNOMAD	ss4333307315	Apr 27, 2021 (155)
51	GNOMAD	ss4333307316	Apr 27, 2021 (155)
52	GNOMAD	ss4333307317	Apr 27, 2021 (155)
53	TOMMO_GENOMICS	ss5228357918	Apr 27, 2021 (155)
54	TOMMO_GENOMICS	ss5228357919	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5228357920	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5228357921	Apr 27, 2021 (155)
57	TOMMO_GENOMICS	ss5228357922	Apr 27, 2021 (155)
58	TOMMO_GENOMICS	ss5228357923	Apr 27, 2021 (155)
59	1000G_HIGH_COVERAGE	ss5307709387	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5307709388	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5307709389	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5307709390	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5307709391	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5307709392	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5500150866	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5500150867	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5500150868	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5500150869	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5500150870	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5787198536	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5787198537	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5787198538	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5787198539	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5787198540	Oct 16, 2022 (156)
75	1000Genomes	NC_000019.9 - 55483364	Oct 12, 2018 (152)
76	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 55483364	Oct 12, 2018 (152)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543512588 (NC_000019.10:54971995::T 1189/106336) Row 543512589 (NC_000019.10:54971995::TT 15413/106228) Row 543512590 (NC_000019.10:54971995::TTT 485/106344)...	-	Apr 27, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 86327225 (NC_000019.9:55483363:T: 8835/16526) Row 86327226 (NC_000019.9:55483363::TT 806/16526) Row 86327227 (NC_000019.9:55483363:TT: 17/16526)...	-	Apr 27, 2021 (155)
108	14KJPN Submission ignored due to conflicting rows: Row 121035640 (NC_000019.10:54971995:T: 16536/28206) Row 121035641 (NC_000019.10:54971995::TT 1449/28206) Row 121035642 (NC_000019.10:54971995::T 223/28206)...	-	Oct 16, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 121035640 (NC_000019.10:54971995:T: 16536/28206) Row 121035641 (NC_000019.10:54971995::TT 1449/28206) Row 121035642 (NC_000019.10:54971995::T 223/28206)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 121035640 (NC_000019.10:54971995:T: 16536/28206) Row 121035641 (NC_000019.10:54971995::TT 1449/28206) Row 121035642 (NC_000019.10:54971995::T 223/28206)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 121035640 (NC_000019.10:54971995:T: 16536/28206) Row 121035641 (NC_000019.10:54971995::TT 1449/28206) Row 121035642 (NC_000019.10:54971995::T 223/28206)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 121035640 (NC_000019.10:54971995:T: 16536/28206) Row 121035641 (NC_000019.10:54971995::TT 1449/28206) Row 121035642 (NC_000019.10:54971995::T 223/28206)...	-	Oct 16, 2022 (156)
113	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42661639 (NC_000019.9:55483369:T: 1382/3708) Row 42661640 (NC_000019.9:55483368:TT: 1374/3708) Row 42661641 (NC_000019.9:55483363:TTTTTTT: 339/3708)	-	Apr 27, 2020 (154)
114	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42661639 (NC_000019.9:55483369:T: 1382/3708) Row 42661640 (NC_000019.9:55483368:TT: 1374/3708) Row 42661641 (NC_000019.9:55483363:TTTTTTT: 339/3708)	-	Apr 27, 2020 (154)
115	UK 10K study - Twins	-	Oct 12, 2018 (152)
116	ALFA	NC_000019.10 - 54971996	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4333307317	NC_000019.10:54971995:TTTTTTTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4333307316	NC_000019.10:54971995:TTTTTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4333307315, ss5307709391	NC_000019.10:54971995:TTTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
42661641, ss666736043, ss1709252826, ss1709252833, ss3017690672	NC_000019.9:55483363:TTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3703019363, ss4333307314, ss5307709388, ss5500150869	NC_000019.10:54971995:TTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4333307313	NC_000019.10:54971995:TTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5228357923	NC_000019.9:55483363:TTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4333307312	NC_000019.10:54971995:TTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4333307311	NC_000019.10:54971995:TTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4333307310	NC_000019.10:54971995:TTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5228357920	NC_000019.9:55483363:TT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1710799595, ss1710799596	NC_000019.9:55483368:TT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4333307309, ss5307709389, ss5500150868, ss5787198540	NC_000019.10:54971995:TT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3703019364	NC_000019.10:54972000:TT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss81864818, ss294967971	NC_000019.8:60175194:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
77073585, ss1378270160, ss3788567913, ss3793472387, ss3798359467, ss3835528507, ss5228357918	NC_000019.9:55483363:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1710799593, ss1710799594	NC_000019.9:55483369:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3821462120, ss4333307308, ss5307709387, ss5500150866, ss5787198536	NC_000019.10:54971995:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3703019365	NC_000019.10:54972001:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss95732602, ss96283046	NT_011109.16:27751600:T:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5228357922	NC_000019.9:55483363::T	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307293, ss5307709392, ss5500150870, ss5787198538	NC_000019.10:54971995::T	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3703019366	NC_000019.10:54972002::T	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5228357919	NC_000019.9:55483363::TT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307294, ss5307709390, ss5500150867, ss5787198537	NC_000019.10:54971995::TT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3703019367	NC_000019.10:54972002::TT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss77851702, ss77943384	NT_011109.16:27751601::TT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5228357921	NC_000019.9:55483363::TTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3063921534, ss4333307295, ss5787198539	NC_000019.10:54971995::TTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3703019368	NC_000019.10:54972002::TTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307296	NC_000019.10:54971995::TTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307297	NC_000019.10:54971995::TTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13185519452	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307298	NC_000019.10:54971995::TTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307299	NC_000019.10:54971995::TTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307300	NC_000019.10:54971995::TTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307301	NC_000019.10:54971995::TTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307302	NC_000019.10:54971995::TTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307303	NC_000019.10:54971995::TTTTTTTTTTT… NC_000019.10:54971995::TTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307304	NC_000019.10:54971995::TTTTTTTTTTT… NC_000019.10:54971995::TTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307305	NC_000019.10:54971995::TTTTTTTTTTT… NC_000019.10:54971995::TTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307306	NC_000019.10:54971995::TTTTTTTTTTT… NC_000019.10:54971995::TTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4333307307	NC_000019.10:54971995::TTTTTTTTTTT… NC_000019.10:54971995::TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3296436537	NC_000019.10:54971995:TTTTTTTTT:	NC_000019.10:54971995:TTTTTTTTTTTT… NC_000019.10:54971995:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs61335843

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs61335843