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dbSNP Short Genetic Variations

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.

rs10673643

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:54973345-54973363 (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)9 / del(T)8 / del(T)7 / del(…

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)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)14 / dup(T)15 / dup(T)19 / ins(T)36

Variation Type
Indel Insertion and Deletion
Frequency
dupTT=0.1569 (1068/6806, ALFA)
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 6806 TTTTTTTTTTTTTTTTTTT=0.8087 TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0066, TTTTTTTTTTTTTTTTTTTTT=0.1569, TTTTTTTTTTTTTTTTTTTTTT=0.0213, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTTTTTT=0.0032, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.771464 0.079613 0.148923 32
European Sub 6364 TTTTTTTTTTTTTTTTTTT=0.7957 TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0071, TTTTTTTTTTTTTTTTTTTTT=0.1675, TTTTTTTTTTTTTTTTTTTTTT=0.0228, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0016, TTTTTTTTTTTTTTTTTTTTTTT=0.0035, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.755198 0.085513 0.159289 32
African Sub 222 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
African American Sub 214 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 16 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 10 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 6 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 24 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 60 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 32 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 88 TTTTTTTTTTTTTTTTTTT=0.98 TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 0.954545 0.0 0.045455 0


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 6806 (T)19=0.8087 del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0066, dupTT=0.1569, dupTTT=0.0213, dup(T)4=0.0032, dup(T)5=0.0000, dup(T)6=0.0018, dup(T)7=0.0000, dup(T)8=0.0015
Allele Frequency Aggregator European Sub 6364 (T)19=0.7957 del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0071, dupTT=0.1675, dupTTT=0.0228, dup(T)4=0.0035, dup(T)5=0.0000, dup(T)6=0.0019, dup(T)7=0.0000, dup(T)8=0.0016
Allele Frequency Aggregator African Sub 222 (T)19=1.000 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=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000, dup(T)7=0.000, dup(T)8=0.000
Allele Frequency Aggregator Other Sub 88 (T)19=0.98 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=0.02, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)7=0.00, dup(T)8=0.00
Allele Frequency Aggregator Latin American 2 Sub 60 (T)19=1.00 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, dup(T)6=0.00, dup(T)7=0.00, dup(T)8=0.00
Allele Frequency Aggregator South Asian Sub 32 (T)19=1.00 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, dup(T)6=0.00, dup(T)7=0.00, dup(T)8=0.00
Allele Frequency Aggregator Latin American 1 Sub 24 (T)19=1.00 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, dup(T)6=0.00, dup(T)7=0.00, dup(T)8=0.00
Allele Frequency Aggregator Asian Sub 16 (T)19=1.00 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, dup(T)6=0.00, dup(T)7=0.00, dup(T)8=0.00
Help

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.54973355_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973356_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973357_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973358_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973359_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973360_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973361_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973362_54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973363del
GRCh38.p14 chr 19 NC_000019.10:g.54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973362_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973361_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973360_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973359_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973358_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973357_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973356_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973355_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973354_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973353_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973352_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973351_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973350_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973349_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973345_54973363dup
GRCh38.p14 chr 19 NC_000019.10:g.54973363_54973364insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 NC_000019.9:g.55484723_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484724_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484725_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484726_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484727_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484728_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484729_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484730_55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484731del
GRCh37.p13 chr 19 NC_000019.9:g.55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484730_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484729_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484728_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484727_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484726_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484725_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484724_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484723_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484722_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484721_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484720_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484719_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484718_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484717_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484713_55484731dup
GRCh37.p13 chr 19 NC_000019.9:g.55484731_55484732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 RefSeqGene NG_052633.1:g.25226_25234del
NLRP2 RefSeqGene NG_052633.1:g.25227_25234del
NLRP2 RefSeqGene NG_052633.1:g.25228_25234del
NLRP2 RefSeqGene NG_052633.1:g.25229_25234del
NLRP2 RefSeqGene NG_052633.1:g.25230_25234del
NLRP2 RefSeqGene NG_052633.1:g.25231_25234del
NLRP2 RefSeqGene NG_052633.1:g.25232_25234del
NLRP2 RefSeqGene NG_052633.1:g.25233_25234del
NLRP2 RefSeqGene NG_052633.1:g.25234del
NLRP2 RefSeqGene NG_052633.1:g.25234dup
NLRP2 RefSeqGene NG_052633.1:g.25233_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25232_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25231_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25230_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25229_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25228_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25227_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25226_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25225_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25224_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25223_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25222_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25221_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25220_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25216_25234dup
NLRP2 RefSeqGene NG_052633.1:g.25234_25235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685516_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685517_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685518_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685519_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685520_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685521_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685522_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685523_685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685524del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685523_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685522_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685521_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685520_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685519_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685518_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685517_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685516_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685515_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685514_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685513_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685512_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685511_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685510_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685506_685524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685524_685525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685515_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685516_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685517_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685518_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685519_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685520_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685521_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685522_685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685523del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685522_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685521_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685520_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685519_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685518_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685517_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685516_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685515_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685514_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685513_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685512_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685511_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685510_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685509_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685505_685523dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685523_685524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891720_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891721_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891722_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891723_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891724_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891725_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891726_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891727_891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891728del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891727_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891726_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891725_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891724_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891723_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891722_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891721_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891720_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891719_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891718_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891717_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891716_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891715_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891714_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891710_891728dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891728_891729insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955427_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955428_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955429_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955430_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955431_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955432_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955433_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955434_955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955435del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955434_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955433_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955432_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955431_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955430_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955429_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955428_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955427_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955426_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955425_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955424_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955423_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955422_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955421_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955417_955435dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955435_955436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980878_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980879_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980880_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980881_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980882_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980883_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980884_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980885_980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980886del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980885_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980884_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980883_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980882_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980881_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980880_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980879_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980878_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980877_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980876_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980875_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980874_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980873_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980872_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980868_980886dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980886_980887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953341_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953342_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953343_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953344_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953345_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953346_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953347_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953348_953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953349del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953348_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953347_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953346_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953345_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953344_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953343_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953342_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953341_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953340_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953339_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953338_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953337_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953336_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953335_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953331_953349dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953349_953350insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618557_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618558_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618559_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618560_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618561_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618562_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618563_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618564_618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618564_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618563_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618562_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618561_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618560_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618559_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618558_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618557_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618556_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618555_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618554_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618553_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618552_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618551_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618547_618565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618565_618566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618556_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618557_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618558_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618559_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618560_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618561_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618562_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618563_618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618564del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618563_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618562_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618561_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618560_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618559_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618558_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618557_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618556_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618555_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618554_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618553_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618552_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618551_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618550_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618546_618564dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618564_618565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876753_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876754_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876755_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876756_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876757_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876758_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876759_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876760_876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876761del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876760_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876759_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876758_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876757_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876756_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876755_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876754_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876753_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876752_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876751_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876750_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876749_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876748_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876747_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876743_876761dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876761_876762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955837_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955838_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955839_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955840_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955841_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955842_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955843_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955844_955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955845del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955844_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955843_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955842_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955841_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955840_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955839_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955838_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955837_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955836_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955835_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955834_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955833_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955832_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955831_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955827_955845dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955845_955846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876110_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876111_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876112_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876113_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876114_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876115_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876116_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876117_876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876118del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876117_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876116_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876115_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876114_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876113_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876112_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876111_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876110_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876109_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876108_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876107_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876106_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876105_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876104_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876100_876118dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876118_876119insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947723_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947724_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947725_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947726_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947727_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947728_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947729_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947730_947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947731del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947730_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947729_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947728_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947727_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947726_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947725_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947724_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947723_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947722_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947721_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947720_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947719_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947718_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947717_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947713_947731dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947731_947732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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.281-1145…

NM_001174081.3:c.281-1145_281-1137del

N/A Intron Variant
NLRP2 transcript variant 3 NM_001174082.3:c.281-1145…

NM_001174082.3:c.281-1145_281-1137del

N/A Intron Variant
NLRP2 transcript variant 4 NM_001174083.2:c.212-1145…

NM_001174083.2:c.212-1145_212-1137del

N/A Intron Variant
NLRP2 transcript variant 5 NM_001348003.2:c.281-1145…

NM_001348003.2:c.281-1145_281-1137del

N/A Intron Variant
NLRP2 transcript variant 1 NM_017852.5:c.281-1145_28…

NM_017852.5:c.281-1145_281-1137del

N/A Intron Variant
NLRP2 transcript variant 6 NR_145325.2:n. N/A Intron Variant
Help

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
Help

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)19= 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)10 dup(T)11 dup(T)12 dup(T)13 dup(T)14 dup(T)15 dup(T)19 ins(T)36
GRCh38.p14 chr 19 NC_000019.10:g.54973345_54973363= NC_000019.10:g.54973355_54973363del NC_000019.10:g.54973356_54973363del NC_000019.10:g.54973357_54973363del NC_000019.10:g.54973358_54973363del NC_000019.10:g.54973359_54973363del NC_000019.10:g.54973360_54973363del NC_000019.10:g.54973361_54973363del NC_000019.10:g.54973362_54973363del NC_000019.10:g.54973363del NC_000019.10:g.54973363dup NC_000019.10:g.54973362_54973363dup NC_000019.10:g.54973361_54973363dup NC_000019.10:g.54973360_54973363dup NC_000019.10:g.54973359_54973363dup NC_000019.10:g.54973358_54973363dup NC_000019.10:g.54973357_54973363dup NC_000019.10:g.54973356_54973363dup NC_000019.10:g.54973355_54973363dup NC_000019.10:g.54973354_54973363dup NC_000019.10:g.54973353_54973363dup NC_000019.10:g.54973352_54973363dup NC_000019.10:g.54973351_54973363dup NC_000019.10:g.54973350_54973363dup NC_000019.10:g.54973349_54973363dup NC_000019.10:g.54973345_54973363dup NC_000019.10:g.54973363_54973364insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 NC_000019.9:g.55484713_55484731= NC_000019.9:g.55484723_55484731del NC_000019.9:g.55484724_55484731del NC_000019.9:g.55484725_55484731del NC_000019.9:g.55484726_55484731del NC_000019.9:g.55484727_55484731del NC_000019.9:g.55484728_55484731del NC_000019.9:g.55484729_55484731del NC_000019.9:g.55484730_55484731del NC_000019.9:g.55484731del NC_000019.9:g.55484731dup NC_000019.9:g.55484730_55484731dup NC_000019.9:g.55484729_55484731dup NC_000019.9:g.55484728_55484731dup NC_000019.9:g.55484727_55484731dup NC_000019.9:g.55484726_55484731dup NC_000019.9:g.55484725_55484731dup NC_000019.9:g.55484724_55484731dup NC_000019.9:g.55484723_55484731dup NC_000019.9:g.55484722_55484731dup NC_000019.9:g.55484721_55484731dup NC_000019.9:g.55484720_55484731dup NC_000019.9:g.55484719_55484731dup NC_000019.9:g.55484718_55484731dup NC_000019.9:g.55484717_55484731dup NC_000019.9:g.55484713_55484731dup NC_000019.9:g.55484731_55484732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 RefSeqGene NG_052633.1:g.25216_25234= NG_052633.1:g.25226_25234del NG_052633.1:g.25227_25234del NG_052633.1:g.25228_25234del NG_052633.1:g.25229_25234del NG_052633.1:g.25230_25234del NG_052633.1:g.25231_25234del NG_052633.1:g.25232_25234del NG_052633.1:g.25233_25234del NG_052633.1:g.25234del NG_052633.1:g.25234dup NG_052633.1:g.25233_25234dup NG_052633.1:g.25232_25234dup NG_052633.1:g.25231_25234dup NG_052633.1:g.25230_25234dup NG_052633.1:g.25229_25234dup NG_052633.1:g.25228_25234dup NG_052633.1:g.25227_25234dup NG_052633.1:g.25226_25234dup NG_052633.1:g.25225_25234dup NG_052633.1:g.25224_25234dup NG_052633.1:g.25223_25234dup NG_052633.1:g.25222_25234dup NG_052633.1:g.25221_25234dup NG_052633.1:g.25220_25234dup NG_052633.1:g.25216_25234dup NG_052633.1:g.25234_25235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.685506_685524= NW_003571061.2:g.685516_685524del NW_003571061.2:g.685517_685524del NW_003571061.2:g.685518_685524del NW_003571061.2:g.685519_685524del NW_003571061.2:g.685520_685524del NW_003571061.2:g.685521_685524del NW_003571061.2:g.685522_685524del NW_003571061.2:g.685523_685524del NW_003571061.2:g.685524del NW_003571061.2:g.685524dup NW_003571061.2:g.685523_685524dup NW_003571061.2:g.685522_685524dup NW_003571061.2:g.685521_685524dup NW_003571061.2:g.685520_685524dup NW_003571061.2:g.685519_685524dup NW_003571061.2:g.685518_685524dup NW_003571061.2:g.685517_685524dup NW_003571061.2:g.685516_685524dup NW_003571061.2:g.685515_685524dup NW_003571061.2:g.685514_685524dup NW_003571061.2:g.685513_685524dup NW_003571061.2:g.685512_685524dup NW_003571061.2:g.685511_685524dup NW_003571061.2:g.685510_685524dup NW_003571061.2:g.685506_685524dup NW_003571061.2:g.685524_685525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.685505_685523= NW_003571061.1:g.685515_685523del NW_003571061.1:g.685516_685523del NW_003571061.1:g.685517_685523del NW_003571061.1:g.685518_685523del NW_003571061.1:g.685519_685523del NW_003571061.1:g.685520_685523del NW_003571061.1:g.685521_685523del NW_003571061.1:g.685522_685523del NW_003571061.1:g.685523del NW_003571061.1:g.685523dup NW_003571061.1:g.685522_685523dup NW_003571061.1:g.685521_685523dup NW_003571061.1:g.685520_685523dup NW_003571061.1:g.685519_685523dup NW_003571061.1:g.685518_685523dup NW_003571061.1:g.685517_685523dup NW_003571061.1:g.685516_685523dup NW_003571061.1:g.685515_685523dup NW_003571061.1:g.685514_685523dup NW_003571061.1:g.685513_685523dup NW_003571061.1:g.685512_685523dup NW_003571061.1:g.685511_685523dup NW_003571061.1:g.685510_685523dup NW_003571061.1:g.685509_685523dup NW_003571061.1:g.685505_685523dup NW_003571061.1:g.685523_685524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.891710_891728= NW_003571059.2:g.891720_891728del NW_003571059.2:g.891721_891728del NW_003571059.2:g.891722_891728del NW_003571059.2:g.891723_891728del NW_003571059.2:g.891724_891728del NW_003571059.2:g.891725_891728del NW_003571059.2:g.891726_891728del NW_003571059.2:g.891727_891728del NW_003571059.2:g.891728del NW_003571059.2:g.891728dup NW_003571059.2:g.891727_891728dup NW_003571059.2:g.891726_891728dup NW_003571059.2:g.891725_891728dup NW_003571059.2:g.891724_891728dup NW_003571059.2:g.891723_891728dup NW_003571059.2:g.891722_891728dup NW_003571059.2:g.891721_891728dup NW_003571059.2:g.891720_891728dup NW_003571059.2:g.891719_891728dup NW_003571059.2:g.891718_891728dup NW_003571059.2:g.891717_891728dup NW_003571059.2:g.891716_891728dup NW_003571059.2:g.891715_891728dup NW_003571059.2:g.891714_891728dup NW_003571059.2:g.891710_891728dup NW_003571059.2:g.891728_891729insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.955417_955435= NW_003571058.2:g.955427_955435del NW_003571058.2:g.955428_955435del NW_003571058.2:g.955429_955435del NW_003571058.2:g.955430_955435del NW_003571058.2:g.955431_955435del NW_003571058.2:g.955432_955435del NW_003571058.2:g.955433_955435del NW_003571058.2:g.955434_955435del NW_003571058.2:g.955435del NW_003571058.2:g.955435dup NW_003571058.2:g.955434_955435dup NW_003571058.2:g.955433_955435dup NW_003571058.2:g.955432_955435dup NW_003571058.2:g.955431_955435dup NW_003571058.2:g.955430_955435dup NW_003571058.2:g.955429_955435dup NW_003571058.2:g.955428_955435dup NW_003571058.2:g.955427_955435dup NW_003571058.2:g.955426_955435dup NW_003571058.2:g.955425_955435dup NW_003571058.2:g.955424_955435dup NW_003571058.2:g.955423_955435dup NW_003571058.2:g.955422_955435dup NW_003571058.2:g.955421_955435dup NW_003571058.2:g.955417_955435dup NW_003571058.2:g.955435_955436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.980868_980886= NW_003571057.2:g.980878_980886del NW_003571057.2:g.980879_980886del NW_003571057.2:g.980880_980886del NW_003571057.2:g.980881_980886del NW_003571057.2:g.980882_980886del NW_003571057.2:g.980883_980886del NW_003571057.2:g.980884_980886del NW_003571057.2:g.980885_980886del NW_003571057.2:g.980886del NW_003571057.2:g.980886dup NW_003571057.2:g.980885_980886dup NW_003571057.2:g.980884_980886dup NW_003571057.2:g.980883_980886dup NW_003571057.2:g.980882_980886dup NW_003571057.2:g.980881_980886dup NW_003571057.2:g.980880_980886dup NW_003571057.2:g.980879_980886dup NW_003571057.2:g.980878_980886dup NW_003571057.2:g.980877_980886dup NW_003571057.2:g.980876_980886dup NW_003571057.2:g.980875_980886dup NW_003571057.2:g.980874_980886dup NW_003571057.2:g.980873_980886dup NW_003571057.2:g.980872_980886dup NW_003571057.2:g.980868_980886dup NW_003571057.2:g.980886_980887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.953331_953349= NW_003571056.2:g.953341_953349del NW_003571056.2:g.953342_953349del NW_003571056.2:g.953343_953349del NW_003571056.2:g.953344_953349del NW_003571056.2:g.953345_953349del NW_003571056.2:g.953346_953349del NW_003571056.2:g.953347_953349del NW_003571056.2:g.953348_953349del NW_003571056.2:g.953349del NW_003571056.2:g.953349dup NW_003571056.2:g.953348_953349dup NW_003571056.2:g.953347_953349dup NW_003571056.2:g.953346_953349dup NW_003571056.2:g.953345_953349dup NW_003571056.2:g.953344_953349dup NW_003571056.2:g.953343_953349dup NW_003571056.2:g.953342_953349dup NW_003571056.2:g.953341_953349dup NW_003571056.2:g.953340_953349dup NW_003571056.2:g.953339_953349dup NW_003571056.2:g.953338_953349dup NW_003571056.2:g.953337_953349dup NW_003571056.2:g.953336_953349dup NW_003571056.2:g.953335_953349dup NW_003571056.2:g.953331_953349dup NW_003571056.2:g.953349_953350insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.618547_618565= NW_003571055.2:g.618557_618565del NW_003571055.2:g.618558_618565del NW_003571055.2:g.618559_618565del NW_003571055.2:g.618560_618565del NW_003571055.2:g.618561_618565del NW_003571055.2:g.618562_618565del NW_003571055.2:g.618563_618565del NW_003571055.2:g.618564_618565del NW_003571055.2:g.618565del NW_003571055.2:g.618565dup NW_003571055.2:g.618564_618565dup NW_003571055.2:g.618563_618565dup NW_003571055.2:g.618562_618565dup NW_003571055.2:g.618561_618565dup NW_003571055.2:g.618560_618565dup NW_003571055.2:g.618559_618565dup NW_003571055.2:g.618558_618565dup NW_003571055.2:g.618557_618565dup NW_003571055.2:g.618556_618565dup NW_003571055.2:g.618555_618565dup NW_003571055.2:g.618554_618565dup NW_003571055.2:g.618553_618565dup NW_003571055.2:g.618552_618565dup NW_003571055.2:g.618551_618565dup NW_003571055.2:g.618547_618565dup NW_003571055.2:g.618565_618566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.618546_618564= NW_003571055.1:g.618556_618564del NW_003571055.1:g.618557_618564del NW_003571055.1:g.618558_618564del NW_003571055.1:g.618559_618564del NW_003571055.1:g.618560_618564del NW_003571055.1:g.618561_618564del NW_003571055.1:g.618562_618564del NW_003571055.1:g.618563_618564del NW_003571055.1:g.618564del NW_003571055.1:g.618564dup NW_003571055.1:g.618563_618564dup NW_003571055.1:g.618562_618564dup NW_003571055.1:g.618561_618564dup NW_003571055.1:g.618560_618564dup NW_003571055.1:g.618559_618564dup NW_003571055.1:g.618558_618564dup NW_003571055.1:g.618557_618564dup NW_003571055.1:g.618556_618564dup NW_003571055.1:g.618555_618564dup NW_003571055.1:g.618554_618564dup NW_003571055.1:g.618553_618564dup NW_003571055.1:g.618552_618564dup NW_003571055.1:g.618551_618564dup NW_003571055.1:g.618550_618564dup NW_003571055.1:g.618546_618564dup NW_003571055.1:g.618564_618565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.876743_876761= NW_003571054.1:g.876753_876761del NW_003571054.1:g.876754_876761del NW_003571054.1:g.876755_876761del NW_003571054.1:g.876756_876761del NW_003571054.1:g.876757_876761del NW_003571054.1:g.876758_876761del NW_003571054.1:g.876759_876761del NW_003571054.1:g.876760_876761del NW_003571054.1:g.876761del NW_003571054.1:g.876761dup NW_003571054.1:g.876760_876761dup NW_003571054.1:g.876759_876761dup NW_003571054.1:g.876758_876761dup NW_003571054.1:g.876757_876761dup NW_003571054.1:g.876756_876761dup NW_003571054.1:g.876755_876761dup NW_003571054.1:g.876754_876761dup NW_003571054.1:g.876753_876761dup NW_003571054.1:g.876752_876761dup NW_003571054.1:g.876751_876761dup NW_003571054.1:g.876750_876761dup NW_003571054.1:g.876749_876761dup NW_003571054.1:g.876748_876761dup NW_003571054.1:g.876747_876761dup NW_003571054.1:g.876743_876761dup NW_003571054.1:g.876761_876762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.955827_955845= NT_187693.1:g.955837_955845del NT_187693.1:g.955838_955845del NT_187693.1:g.955839_955845del NT_187693.1:g.955840_955845del NT_187693.1:g.955841_955845del NT_187693.1:g.955842_955845del NT_187693.1:g.955843_955845del NT_187693.1:g.955844_955845del NT_187693.1:g.955845del NT_187693.1:g.955845dup NT_187693.1:g.955844_955845dup NT_187693.1:g.955843_955845dup NT_187693.1:g.955842_955845dup NT_187693.1:g.955841_955845dup NT_187693.1:g.955840_955845dup NT_187693.1:g.955839_955845dup NT_187693.1:g.955838_955845dup NT_187693.1:g.955837_955845dup NT_187693.1:g.955836_955845dup NT_187693.1:g.955835_955845dup NT_187693.1:g.955834_955845dup NT_187693.1:g.955833_955845dup NT_187693.1:g.955832_955845dup NT_187693.1:g.955831_955845dup NT_187693.1:g.955827_955845dup NT_187693.1:g.955845_955846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.876100_876118= NW_003571060.1:g.876110_876118del NW_003571060.1:g.876111_876118del NW_003571060.1:g.876112_876118del NW_003571060.1:g.876113_876118del NW_003571060.1:g.876114_876118del NW_003571060.1:g.876115_876118del NW_003571060.1:g.876116_876118del NW_003571060.1:g.876117_876118del NW_003571060.1:g.876118del NW_003571060.1:g.876118dup NW_003571060.1:g.876117_876118dup NW_003571060.1:g.876116_876118dup NW_003571060.1:g.876115_876118dup NW_003571060.1:g.876114_876118dup NW_003571060.1:g.876113_876118dup NW_003571060.1:g.876112_876118dup NW_003571060.1:g.876111_876118dup NW_003571060.1:g.876110_876118dup NW_003571060.1:g.876109_876118dup NW_003571060.1:g.876108_876118dup NW_003571060.1:g.876107_876118dup NW_003571060.1:g.876106_876118dup NW_003571060.1:g.876105_876118dup NW_003571060.1:g.876104_876118dup NW_003571060.1:g.876100_876118dup NW_003571060.1:g.876118_876119insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.947713_947731= NW_004166865.1:g.947723_947731del NW_004166865.1:g.947724_947731del NW_004166865.1:g.947725_947731del NW_004166865.1:g.947726_947731del NW_004166865.1:g.947727_947731del NW_004166865.1:g.947728_947731del NW_004166865.1:g.947729_947731del NW_004166865.1:g.947730_947731del NW_004166865.1:g.947731del NW_004166865.1:g.947731dup NW_004166865.1:g.947730_947731dup NW_004166865.1:g.947729_947731dup NW_004166865.1:g.947728_947731dup NW_004166865.1:g.947727_947731dup NW_004166865.1:g.947726_947731dup NW_004166865.1:g.947725_947731dup NW_004166865.1:g.947724_947731dup NW_004166865.1:g.947723_947731dup NW_004166865.1:g.947722_947731dup NW_004166865.1:g.947721_947731dup NW_004166865.1:g.947720_947731dup NW_004166865.1:g.947719_947731dup NW_004166865.1:g.947718_947731dup NW_004166865.1:g.947717_947731dup NW_004166865.1:g.947713_947731dup NW_004166865.1:g.947731_947732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 2 NM_001174081.1:c.281-1155= NM_001174081.1:c.281-1145_281-1137del NM_001174081.1:c.281-1144_281-1137del NM_001174081.1:c.281-1143_281-1137del NM_001174081.1:c.281-1142_281-1137del NM_001174081.1:c.281-1141_281-1137del NM_001174081.1:c.281-1140_281-1137del NM_001174081.1:c.281-1139_281-1137del NM_001174081.1:c.281-1138_281-1137del NM_001174081.1:c.281-1137del NM_001174081.1:c.281-1137dup NM_001174081.1:c.281-1138_281-1137dup NM_001174081.1:c.281-1139_281-1137dup NM_001174081.1:c.281-1140_281-1137dup NM_001174081.1:c.281-1141_281-1137dup NM_001174081.1:c.281-1142_281-1137dup NM_001174081.1:c.281-1143_281-1137dup NM_001174081.1:c.281-1144_281-1137dup NM_001174081.1:c.281-1145_281-1137dup NM_001174081.1:c.281-1146_281-1137dup NM_001174081.1:c.281-1147_281-1137dup NM_001174081.1:c.281-1148_281-1137dup NM_001174081.1:c.281-1149_281-1137dup NM_001174081.1:c.281-1150_281-1137dup NM_001174081.1:c.281-1151_281-1137dup NM_001174081.1:c.281-1155_281-1137dup NM_001174081.1:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 2 NM_001174081.3:c.281-1155= NM_001174081.3:c.281-1145_281-1137del NM_001174081.3:c.281-1144_281-1137del NM_001174081.3:c.281-1143_281-1137del NM_001174081.3:c.281-1142_281-1137del NM_001174081.3:c.281-1141_281-1137del NM_001174081.3:c.281-1140_281-1137del NM_001174081.3:c.281-1139_281-1137del NM_001174081.3:c.281-1138_281-1137del NM_001174081.3:c.281-1137del NM_001174081.3:c.281-1137dup NM_001174081.3:c.281-1138_281-1137dup NM_001174081.3:c.281-1139_281-1137dup NM_001174081.3:c.281-1140_281-1137dup NM_001174081.3:c.281-1141_281-1137dup NM_001174081.3:c.281-1142_281-1137dup NM_001174081.3:c.281-1143_281-1137dup NM_001174081.3:c.281-1144_281-1137dup NM_001174081.3:c.281-1145_281-1137dup NM_001174081.3:c.281-1146_281-1137dup NM_001174081.3:c.281-1147_281-1137dup NM_001174081.3:c.281-1148_281-1137dup NM_001174081.3:c.281-1149_281-1137dup NM_001174081.3:c.281-1150_281-1137dup NM_001174081.3:c.281-1151_281-1137dup NM_001174081.3:c.281-1155_281-1137dup NM_001174081.3:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 3 NM_001174082.1:c.281-1155= NM_001174082.1:c.281-1145_281-1137del NM_001174082.1:c.281-1144_281-1137del NM_001174082.1:c.281-1143_281-1137del NM_001174082.1:c.281-1142_281-1137del NM_001174082.1:c.281-1141_281-1137del NM_001174082.1:c.281-1140_281-1137del NM_001174082.1:c.281-1139_281-1137del NM_001174082.1:c.281-1138_281-1137del NM_001174082.1:c.281-1137del NM_001174082.1:c.281-1137dup NM_001174082.1:c.281-1138_281-1137dup NM_001174082.1:c.281-1139_281-1137dup NM_001174082.1:c.281-1140_281-1137dup NM_001174082.1:c.281-1141_281-1137dup NM_001174082.1:c.281-1142_281-1137dup NM_001174082.1:c.281-1143_281-1137dup NM_001174082.1:c.281-1144_281-1137dup NM_001174082.1:c.281-1145_281-1137dup NM_001174082.1:c.281-1146_281-1137dup NM_001174082.1:c.281-1147_281-1137dup NM_001174082.1:c.281-1148_281-1137dup NM_001174082.1:c.281-1149_281-1137dup NM_001174082.1:c.281-1150_281-1137dup NM_001174082.1:c.281-1151_281-1137dup NM_001174082.1:c.281-1155_281-1137dup NM_001174082.1:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 3 NM_001174082.3:c.281-1155= NM_001174082.3:c.281-1145_281-1137del NM_001174082.3:c.281-1144_281-1137del NM_001174082.3:c.281-1143_281-1137del NM_001174082.3:c.281-1142_281-1137del NM_001174082.3:c.281-1141_281-1137del NM_001174082.3:c.281-1140_281-1137del NM_001174082.3:c.281-1139_281-1137del NM_001174082.3:c.281-1138_281-1137del NM_001174082.3:c.281-1137del NM_001174082.3:c.281-1137dup NM_001174082.3:c.281-1138_281-1137dup NM_001174082.3:c.281-1139_281-1137dup NM_001174082.3:c.281-1140_281-1137dup NM_001174082.3:c.281-1141_281-1137dup NM_001174082.3:c.281-1142_281-1137dup NM_001174082.3:c.281-1143_281-1137dup NM_001174082.3:c.281-1144_281-1137dup NM_001174082.3:c.281-1145_281-1137dup NM_001174082.3:c.281-1146_281-1137dup NM_001174082.3:c.281-1147_281-1137dup NM_001174082.3:c.281-1148_281-1137dup NM_001174082.3:c.281-1149_281-1137dup NM_001174082.3:c.281-1150_281-1137dup NM_001174082.3:c.281-1151_281-1137dup NM_001174082.3:c.281-1155_281-1137dup NM_001174082.3:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 4 NM_001174083.1:c.212-1155= NM_001174083.1:c.212-1145_212-1137del NM_001174083.1:c.212-1144_212-1137del NM_001174083.1:c.212-1143_212-1137del NM_001174083.1:c.212-1142_212-1137del NM_001174083.1:c.212-1141_212-1137del NM_001174083.1:c.212-1140_212-1137del NM_001174083.1:c.212-1139_212-1137del NM_001174083.1:c.212-1138_212-1137del NM_001174083.1:c.212-1137del NM_001174083.1:c.212-1137dup NM_001174083.1:c.212-1138_212-1137dup NM_001174083.1:c.212-1139_212-1137dup NM_001174083.1:c.212-1140_212-1137dup NM_001174083.1:c.212-1141_212-1137dup NM_001174083.1:c.212-1142_212-1137dup NM_001174083.1:c.212-1143_212-1137dup NM_001174083.1:c.212-1144_212-1137dup NM_001174083.1:c.212-1145_212-1137dup NM_001174083.1:c.212-1146_212-1137dup NM_001174083.1:c.212-1147_212-1137dup NM_001174083.1:c.212-1148_212-1137dup NM_001174083.1:c.212-1149_212-1137dup NM_001174083.1:c.212-1150_212-1137dup NM_001174083.1:c.212-1151_212-1137dup NM_001174083.1:c.212-1155_212-1137dup NM_001174083.1:c.212-1137_212-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 4 NM_001174083.2:c.212-1155= NM_001174083.2:c.212-1145_212-1137del NM_001174083.2:c.212-1144_212-1137del NM_001174083.2:c.212-1143_212-1137del NM_001174083.2:c.212-1142_212-1137del NM_001174083.2:c.212-1141_212-1137del NM_001174083.2:c.212-1140_212-1137del NM_001174083.2:c.212-1139_212-1137del NM_001174083.2:c.212-1138_212-1137del NM_001174083.2:c.212-1137del NM_001174083.2:c.212-1137dup NM_001174083.2:c.212-1138_212-1137dup NM_001174083.2:c.212-1139_212-1137dup NM_001174083.2:c.212-1140_212-1137dup NM_001174083.2:c.212-1141_212-1137dup NM_001174083.2:c.212-1142_212-1137dup NM_001174083.2:c.212-1143_212-1137dup NM_001174083.2:c.212-1144_212-1137dup NM_001174083.2:c.212-1145_212-1137dup NM_001174083.2:c.212-1146_212-1137dup NM_001174083.2:c.212-1147_212-1137dup NM_001174083.2:c.212-1148_212-1137dup NM_001174083.2:c.212-1149_212-1137dup NM_001174083.2:c.212-1150_212-1137dup NM_001174083.2:c.212-1151_212-1137dup NM_001174083.2:c.212-1155_212-1137dup NM_001174083.2:c.212-1137_212-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 5 NM_001348003.2:c.281-1155= NM_001348003.2:c.281-1145_281-1137del NM_001348003.2:c.281-1144_281-1137del NM_001348003.2:c.281-1143_281-1137del NM_001348003.2:c.281-1142_281-1137del NM_001348003.2:c.281-1141_281-1137del NM_001348003.2:c.281-1140_281-1137del NM_001348003.2:c.281-1139_281-1137del NM_001348003.2:c.281-1138_281-1137del NM_001348003.2:c.281-1137del NM_001348003.2:c.281-1137dup NM_001348003.2:c.281-1138_281-1137dup NM_001348003.2:c.281-1139_281-1137dup NM_001348003.2:c.281-1140_281-1137dup NM_001348003.2:c.281-1141_281-1137dup NM_001348003.2:c.281-1142_281-1137dup NM_001348003.2:c.281-1143_281-1137dup NM_001348003.2:c.281-1144_281-1137dup NM_001348003.2:c.281-1145_281-1137dup NM_001348003.2:c.281-1146_281-1137dup NM_001348003.2:c.281-1147_281-1137dup NM_001348003.2:c.281-1148_281-1137dup NM_001348003.2:c.281-1149_281-1137dup NM_001348003.2:c.281-1150_281-1137dup NM_001348003.2:c.281-1151_281-1137dup NM_001348003.2:c.281-1155_281-1137dup NM_001348003.2:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 1 NM_017852.3:c.281-1155= NM_017852.3:c.281-1145_281-1137del NM_017852.3:c.281-1144_281-1137del NM_017852.3:c.281-1143_281-1137del NM_017852.3:c.281-1142_281-1137del NM_017852.3:c.281-1141_281-1137del NM_017852.3:c.281-1140_281-1137del NM_017852.3:c.281-1139_281-1137del NM_017852.3:c.281-1138_281-1137del NM_017852.3:c.281-1137del NM_017852.3:c.281-1137dup NM_017852.3:c.281-1138_281-1137dup NM_017852.3:c.281-1139_281-1137dup NM_017852.3:c.281-1140_281-1137dup NM_017852.3:c.281-1141_281-1137dup NM_017852.3:c.281-1142_281-1137dup NM_017852.3:c.281-1143_281-1137dup NM_017852.3:c.281-1144_281-1137dup NM_017852.3:c.281-1145_281-1137dup NM_017852.3:c.281-1146_281-1137dup NM_017852.3:c.281-1147_281-1137dup NM_017852.3:c.281-1148_281-1137dup NM_017852.3:c.281-1149_281-1137dup NM_017852.3:c.281-1150_281-1137dup NM_017852.3:c.281-1151_281-1137dup NM_017852.3:c.281-1155_281-1137dup NM_017852.3:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant 1 NM_017852.5:c.281-1155= NM_017852.5:c.281-1145_281-1137del NM_017852.5:c.281-1144_281-1137del NM_017852.5:c.281-1143_281-1137del NM_017852.5:c.281-1142_281-1137del NM_017852.5:c.281-1141_281-1137del NM_017852.5:c.281-1140_281-1137del NM_017852.5:c.281-1139_281-1137del NM_017852.5:c.281-1138_281-1137del NM_017852.5:c.281-1137del NM_017852.5:c.281-1137dup NM_017852.5:c.281-1138_281-1137dup NM_017852.5:c.281-1139_281-1137dup NM_017852.5:c.281-1140_281-1137dup NM_017852.5:c.281-1141_281-1137dup NM_017852.5:c.281-1142_281-1137dup NM_017852.5:c.281-1143_281-1137dup NM_017852.5:c.281-1144_281-1137dup NM_017852.5:c.281-1145_281-1137dup NM_017852.5:c.281-1146_281-1137dup NM_017852.5:c.281-1147_281-1137dup NM_017852.5:c.281-1148_281-1137dup NM_017852.5:c.281-1149_281-1137dup NM_017852.5:c.281-1150_281-1137dup NM_017852.5:c.281-1151_281-1137dup NM_017852.5:c.281-1155_281-1137dup NM_017852.5:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X1 XM_005259050.1:c.281-1155= XM_005259050.1:c.281-1145_281-1137del XM_005259050.1:c.281-1144_281-1137del XM_005259050.1:c.281-1143_281-1137del XM_005259050.1:c.281-1142_281-1137del XM_005259050.1:c.281-1141_281-1137del XM_005259050.1:c.281-1140_281-1137del XM_005259050.1:c.281-1139_281-1137del XM_005259050.1:c.281-1138_281-1137del XM_005259050.1:c.281-1137del XM_005259050.1:c.281-1137dup XM_005259050.1:c.281-1138_281-1137dup XM_005259050.1:c.281-1139_281-1137dup XM_005259050.1:c.281-1140_281-1137dup XM_005259050.1:c.281-1141_281-1137dup XM_005259050.1:c.281-1142_281-1137dup XM_005259050.1:c.281-1143_281-1137dup XM_005259050.1:c.281-1144_281-1137dup XM_005259050.1:c.281-1145_281-1137dup XM_005259050.1:c.281-1146_281-1137dup XM_005259050.1:c.281-1147_281-1137dup XM_005259050.1:c.281-1148_281-1137dup XM_005259050.1:c.281-1149_281-1137dup XM_005259050.1:c.281-1150_281-1137dup XM_005259050.1:c.281-1151_281-1137dup XM_005259050.1:c.281-1155_281-1137dup XM_005259050.1:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X2 XM_005277121.1:c.281-1155= XM_005277121.1:c.281-1145_281-1137del XM_005277121.1:c.281-1144_281-1137del XM_005277121.1:c.281-1143_281-1137del XM_005277121.1:c.281-1142_281-1137del XM_005277121.1:c.281-1141_281-1137del XM_005277121.1:c.281-1140_281-1137del XM_005277121.1:c.281-1139_281-1137del XM_005277121.1:c.281-1138_281-1137del XM_005277121.1:c.281-1137del XM_005277121.1:c.281-1137dup XM_005277121.1:c.281-1138_281-1137dup XM_005277121.1:c.281-1139_281-1137dup XM_005277121.1:c.281-1140_281-1137dup XM_005277121.1:c.281-1141_281-1137dup XM_005277121.1:c.281-1142_281-1137dup XM_005277121.1:c.281-1143_281-1137dup XM_005277121.1:c.281-1144_281-1137dup XM_005277121.1:c.281-1145_281-1137dup XM_005277121.1:c.281-1146_281-1137dup XM_005277121.1:c.281-1147_281-1137dup XM_005277121.1:c.281-1148_281-1137dup XM_005277121.1:c.281-1149_281-1137dup XM_005277121.1:c.281-1150_281-1137dup XM_005277121.1:c.281-1151_281-1137dup XM_005277121.1:c.281-1155_281-1137dup XM_005277121.1:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NLRP2 transcript variant X9 XM_005278284.1:c.281-1155= XM_005278284.1:c.281-1145_281-1137del XM_005278284.1:c.281-1144_281-1137del XM_005278284.1:c.281-1143_281-1137del XM_005278284.1:c.281-1142_281-1137del XM_005278284.1:c.281-1141_281-1137del XM_005278284.1:c.281-1140_281-1137del XM_005278284.1:c.281-1139_281-1137del XM_005278284.1:c.281-1138_281-1137del XM_005278284.1:c.281-1137del XM_005278284.1:c.281-1137dup XM_005278284.1:c.281-1138_281-1137dup XM_005278284.1:c.281-1139_281-1137dup XM_005278284.1:c.281-1140_281-1137dup XM_005278284.1:c.281-1141_281-1137dup XM_005278284.1:c.281-1142_281-1137dup XM_005278284.1:c.281-1143_281-1137dup XM_005278284.1:c.281-1144_281-1137dup XM_005278284.1:c.281-1145_281-1137dup XM_005278284.1:c.281-1146_281-1137dup XM_005278284.1:c.281-1147_281-1137dup XM_005278284.1:c.281-1148_281-1137dup XM_005278284.1:c.281-1149_281-1137dup XM_005278284.1:c.281-1150_281-1137dup XM_005278284.1:c.281-1151_281-1137dup XM_005278284.1:c.281-1155_281-1137dup XM_005278284.1:c.281-1137_281-1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Help

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, 39 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40966294 Mar 14, 2006 (126)
2 HGSV ss81634532 Dec 15, 2007 (130)
3 HUMANGENOME_JCVI ss95975854 Feb 06, 2009 (130)
4 PJP ss294967972 May 09, 2011 (137)
5 PJP ss294967973 May 09, 2011 (137)
6 SSMP ss664454154 Apr 01, 2015 (144)
7 SSIP ss947397815 Aug 21, 2014 (142)
8 DDI ss1536897798 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1709252837 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1709252839 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1709252844 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1709252845 Apr 01, 2015 (144)
13 SWEGEN ss3017690703 Nov 08, 2017 (151)
14 EVA_DECODE ss3703019403 Jul 13, 2019 (153)
15 EVA_DECODE ss3703019404 Jul 13, 2019 (153)
16 EVA_DECODE ss3703019405 Jul 13, 2019 (153)
17 EVA_DECODE ss3703019406 Jul 13, 2019 (153)
18 EVA_DECODE ss3703019409 Jul 13, 2019 (153)
19 PACBIO ss3788567916 Jul 13, 2019 (153)
20 PACBIO ss3793472389 Jul 13, 2019 (153)
21 PACBIO ss3793472390 Jul 13, 2019 (153)
22 PACBIO ss3798359469 Jul 13, 2019 (153)
23 PACBIO ss3798359470 Jul 13, 2019 (153)
24 EVA ss3835528515 Apr 27, 2020 (154)
25 VINODS ss4033860642 Apr 27, 2021 (155)
26 VINODS ss4033865592 Apr 27, 2021 (155)
27 GNOMAD ss4333307543 Apr 27, 2021 (155)
28 GNOMAD ss4333307544 Apr 27, 2021 (155)
29 GNOMAD ss4333307545 Apr 27, 2021 (155)
30 GNOMAD ss4333307546 Apr 27, 2021 (155)
31 GNOMAD ss4333307547 Apr 27, 2021 (155)
32 GNOMAD ss4333307548 Apr 27, 2021 (155)
33 GNOMAD ss4333307549 Apr 27, 2021 (155)
34 GNOMAD ss4333307550 Apr 27, 2021 (155)
35 GNOMAD ss4333307551 Apr 27, 2021 (155)
36 GNOMAD ss4333307552 Apr 27, 2021 (155)
37 GNOMAD ss4333307553 Apr 27, 2021 (155)
38 GNOMAD ss4333307554 Apr 27, 2021 (155)
39 GNOMAD ss4333307555 Apr 27, 2021 (155)
40 GNOMAD ss4333307556 Apr 27, 2021 (155)
41 GNOMAD ss4333307557 Apr 27, 2021 (155)
42 GNOMAD ss4333307558 Apr 27, 2021 (155)
43 GNOMAD ss4333307559 Apr 27, 2021 (155)
44 GNOMAD ss4333307560 Apr 27, 2021 (155)
45 GNOMAD ss4333307561 Apr 27, 2021 (155)
46 GNOMAD ss4333307562 Apr 27, 2021 (155)
47 GNOMAD ss4333307563 Apr 27, 2021 (155)
48 GNOMAD ss4333307564 Apr 27, 2021 (155)
49 GNOMAD ss4333307565 Apr 27, 2021 (155)
50 GNOMAD ss4333307566 Apr 27, 2021 (155)
51 TOMMO_GENOMICS ss5228357999 Apr 27, 2021 (155)
52 TOMMO_GENOMICS ss5228358000 Apr 27, 2021 (155)
53 TOMMO_GENOMICS ss5228358001 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5228358002 Apr 27, 2021 (155)
55 TOMMO_GENOMICS ss5228358003 Apr 27, 2021 (155)
56 1000G_HIGH_COVERAGE ss5307709459 Oct 16, 2022 (156)
57 1000G_HIGH_COVERAGE ss5307709460 Oct 16, 2022 (156)
58 1000G_HIGH_COVERAGE ss5307709461 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5307709462 Oct 16, 2022 (156)
60 1000G_HIGH_COVERAGE ss5307709463 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5307709464 Oct 16, 2022 (156)
62 HUGCELL_USP ss5500150938 Oct 16, 2022 (156)
63 HUGCELL_USP ss5500150939 Oct 16, 2022 (156)
64 HUGCELL_USP ss5500150940 Oct 16, 2022 (156)
65 HUGCELL_USP ss5500150941 Oct 16, 2022 (156)
66 HUGCELL_USP ss5500150942 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5787198640 Oct 16, 2022 (156)
68 TOMMO_GENOMICS ss5787198641 Oct 16, 2022 (156)
69 TOMMO_GENOMICS ss5787198642 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5787198643 Oct 16, 2022 (156)
71 TOMMO_GENOMICS ss5787198644 Oct 16, 2022 (156)
72 EVA ss5840726524 Oct 16, 2022 (156)
73 EVA ss5840726525 Oct 16, 2022 (156)
74 EVA ss5852339555 Oct 16, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42661675 (NC_000019.9:55484712::TT 3466/3854)
Row 42661676 (NC_000019.9:55484712::TTT 251/3854)

- Oct 12, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42661675 (NC_000019.9:55484712::TT 3466/3854)
Row 42661676 (NC_000019.9:55484712::TTT 251/3854)

- Oct 12, 2018 (152)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543513017 (NC_000019.10:54973344::T 4716/85844)
Row 543513018 (NC_000019.10:54973344::TT 37704/85000)
Row 543513019 (NC_000019.10:54973344::TTT 5148/85396)...

- Apr 27, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 86327306 (NC_000019.9:55484712::TT 8857/16150)
Row 86327307 (NC_000019.9:55484712::TTT 699/16150)
Row 86327308 (NC_000019.9:55484712::T 93/16150)...

- Apr 27, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 86327306 (NC_000019.9:55484712::TT 8857/16150)
Row 86327307 (NC_000019.9:55484712::TTT 699/16150)
Row 86327308 (NC_000019.9:55484712::T 93/16150)...

- Apr 27, 2021 (155)
103 8.3KJPN

Submission ignored due to conflicting rows:
Row 86327306 (NC_000019.9:55484712::TT 8857/16150)
Row 86327307 (NC_000019.9:55484712::TTT 699/16150)
Row 86327308 (NC_000019.9:55484712::T 93/16150)...

- Apr 27, 2021 (155)
104 8.3KJPN

Submission ignored due to conflicting rows:
Row 86327306 (NC_000019.9:55484712::TT 8857/16150)
Row 86327307 (NC_000019.9:55484712::TTT 699/16150)
Row 86327308 (NC_000019.9:55484712::T 93/16150)...

- Apr 27, 2021 (155)
105 8.3KJPN

Submission ignored due to conflicting rows:
Row 86327306 (NC_000019.9:55484712::TT 8857/16150)
Row 86327307 (NC_000019.9:55484712::TTT 699/16150)
Row 86327308 (NC_000019.9:55484712::T 93/16150)...

- Apr 27, 2021 (155)
106 14KJPN

Submission ignored due to conflicting rows:
Row 121035744 (NC_000019.10:54973344::TT 15938/28204)
Row 121035745 (NC_000019.10:54973344::TTT 1174/28204)
Row 121035746 (NC_000019.10:54973344::T 116/28204)...

- Oct 16, 2022 (156)
107 14KJPN

Submission ignored due to conflicting rows:
Row 121035744 (NC_000019.10:54973344::TT 15938/28204)
Row 121035745 (NC_000019.10:54973344::TTT 1174/28204)
Row 121035746 (NC_000019.10:54973344::T 116/28204)...

- Oct 16, 2022 (156)
108 14KJPN

Submission ignored due to conflicting rows:
Row 121035744 (NC_000019.10:54973344::TT 15938/28204)
Row 121035745 (NC_000019.10:54973344::TTT 1174/28204)
Row 121035746 (NC_000019.10:54973344::T 116/28204)...

- Oct 16, 2022 (156)
109 14KJPN

Submission ignored due to conflicting rows:
Row 121035744 (NC_000019.10:54973344::TT 15938/28204)
Row 121035745 (NC_000019.10:54973344::TTT 1174/28204)
Row 121035746 (NC_000019.10:54973344::T 116/28204)...

- Oct 16, 2022 (156)
110 14KJPN

Submission ignored due to conflicting rows:
Row 121035744 (NC_000019.10:54973344::TT 15938/28204)
Row 121035745 (NC_000019.10:54973344::TTT 1174/28204)
Row 121035746 (NC_000019.10:54973344::T 116/28204)...

- Oct 16, 2022 (156)
111 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42661675 (NC_000019.9:55484712::TT 3282/3708)
Row 42661676 (NC_000019.9:55484712::TTT 244/3708)

- Oct 12, 2018 (152)
112 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42661675 (NC_000019.9:55484712::TT 3282/3708)
Row 42661676 (NC_000019.9:55484712::TTT 244/3708)

- Oct 12, 2018 (152)
113 ALFA NC_000019.10 - 54973345 Apr 27, 2021 (155)
Help

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).

Associated ID History Updated (Build)
rs60190045 May 25, 2008 (130)
rs66554745 Jul 30, 2012 (137)
rs66554746 Feb 26, 2009 (130)
rs138823700 Jul 30, 2012 (137)
rs150213006 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4333307566 NC_000019.10:54973344:TTTTTTTTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4333307565 NC_000019.10:54973344:TTTTTTTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4333307564 NC_000019.10:54973344:TTTTTTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4333307563 NC_000019.10:54973344:TTTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4333307562 NC_000019.10:54973344:TTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4333307561 NC_000019.10:54973344:TT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3017690703 NC_000019.9:55484712:T: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3703019403, ss4333307560, ss5307709464, ss5500150941 NC_000019.10:54973344:T: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3793472389, ss3798359469, ss5228358001 NC_000019.9:55484712::T NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4333307543, ss5307709463, ss5500150938, ss5787198642 NC_000019.10:54973344::T NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3703019404 NC_000019.10:54973345::T NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss95975854 NT_011109.16:27752949::T NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss294967972 NC_000019.8:60176525::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss294967973 NC_000019.8:60176542::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss664454154, ss1536897798, ss1709252837, ss1709252844, ss3788567916, ss3793472390, ss3798359470, ss3835528515, ss5228357999, ss5840726524 NC_000019.9:55484712::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss947397815 NC_000019.9:55484713::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307544, ss5307709459, ss5500150940, ss5787198640 NC_000019.10:54973344::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3703019405 NC_000019.10:54973345::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3703019409 NC_000019.10:54973351::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss40966294 NT_011109.16:27752930::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss81634532 NT_011109.16:27752949::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4033860642 NW_003571055.2:618546::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4033865592 NW_003571059.2:891709::TT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss1709252839, ss1709252845, ss5228358000, ss5840726525 NC_000019.9:55484712::TTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307545, ss5307709460, ss5500150939, ss5787198641, ss5852339555 NC_000019.10:54973344::TTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3703019406 NC_000019.10:54973345::TTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228358002 NC_000019.9:55484712::TTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307546, ss5307709461, ss5500150942, ss5787198643 NC_000019.10:54973344::TTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228358003 NC_000019.9:55484712::TTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307547, ss5307709462, ss5787198644 NC_000019.10:54973344::TTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307548 NC_000019.10:54973344::TTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307549 NC_000019.10:54973344::TTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307550 NC_000019.10:54973344::TTTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6616450974 NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307551 NC_000019.10:54973344::TTTTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307552 NC_000019.10:54973344::TTTTTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307553 NC_000019.10:54973344::TTTTTTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307554 NC_000019.10:54973344::TTTTTTTTTTTT NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307555 NC_000019.10:54973344::TTTTTTTTTTT…

NC_000019.10:54973344::TTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307556 NC_000019.10:54973344::TTTTTTTTTTT…

NC_000019.10:54973344::TTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307557 NC_000019.10:54973344::TTTTTTTTTTT…

NC_000019.10:54973344::TTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307558 NC_000019.10:54973344::TTTTTTTTTTT…

NC_000019.10:54973344::TTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333307559 NC_000019.10:54973344::TTTTTTTTTTT…

NC_000019.10:54973344::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2392492281 NC_000019.9:55484712:TTTTTTT: NC_000019.10:54973344:TTTTTTTTTTTT…

NC_000019.10:54973344:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

Help

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

No publications for rs10673643

Help

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.

Software version is: 2.0.1.post820+afb47a3d