Links from Gene
Items: 1 to 20 of 1000
1.
rs1491576268 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:112719987
(GRCh38)
2:113477565
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719987::C
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000278/33
(GnomAD)
C=0.000546/1
(Korea1K)
C=0.001382/23
(TOMMO)
- HGVS:
2.
rs1491525703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:112723362
(GRCh38)
2:113480940
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112723362:ACACACACACACACACA:ACACACACACACACACAGACACACACACACACACA
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACAGACACACACACACACACA=0.000071/1
(
ALFA)
ACACACACACACACACAG=0.000004/1
(TOPMED)
ACACACACACACACACAG=0.001346/2
(GnomAD)
- HGVS:
3.
rs1491519477 has merged into rs36112869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:112723378
(GRCh38)
2:113480955
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:112723361:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.112723362CA[8], NC_000002.12:g.112723362CA[9], NC_000002.12:g.112723362CA[12], NC_000002.12:g.112723362CA[13], NC_000002.12:g.112723362CA[14], NC_000002.12:g.112723362CA[15], NC_000002.12:g.112723362CA[16], NC_000002.12:g.112723362CA[18], NC_000002.12:g.112723362CA[19], NC_000002.12:g.112723362CA[20], NC_000002.12:g.112723362CA[21], NC_000002.12:g.112723362CA[22], NC_000002.12:g.112723362CA[23], NC_000002.12:g.112723362CA[24], NC_000002.12:g.112723362CA[25], NC_000002.12:g.112723362CA[26], NC_000002.12:g.112723362CA[27], NC_000002.12:g.112723362CA[28], NC_000002.12:g.112723362CA[29], NC_000002.12:g.112723362CA[30], NC_000002.12:g.112723362CA[31], NC_000002.12:g.112723362CA[32], NC_000002.12:g.112723362CA[33], NC_000002.11:g.113480939CA[8], NC_000002.11:g.113480939CA[9], NC_000002.11:g.113480939CA[12], NC_000002.11:g.113480939CA[13], NC_000002.11:g.113480939CA[14], NC_000002.11:g.113480939CA[15], NC_000002.11:g.113480939CA[16], NC_000002.11:g.113480939CA[18], NC_000002.11:g.113480939CA[19], NC_000002.11:g.113480939CA[20], NC_000002.11:g.113480939CA[21], NC_000002.11:g.113480939CA[22], NC_000002.11:g.113480939CA[23], NC_000002.11:g.113480939CA[24], NC_000002.11:g.113480939CA[25], NC_000002.11:g.113480939CA[26], NC_000002.11:g.113480939CA[27], NC_000002.11:g.113480939CA[28], NC_000002.11:g.113480939CA[29], NC_000002.11:g.113480939CA[30], NC_000002.11:g.113480939CA[31], NC_000002.11:g.113480939CA[32], NC_000002.11:g.113480939CA[33]
5.
rs1491450890 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:112741941
(GRCh38)
2:113499519
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112741941::G
- Gene:
- CKAP2L (Varview), NT5DC4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00088/14
(GnomAD)
- HGVS:
6.
rs1491419467 has merged into rs1458207443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 2:112719988
(GRCh38)
2:113477565
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719986:TTTTT:T,NC_000002.12:112719986:TTTTT:TTT,NC_000002.12:112719986:TTTTT:TTTT,NC_000002.12:112719986:TTTTT:TTTTTT,NC_000002.12:112719986:TTTTT:TTTTTTT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00437/8
(Korea1K)
- HGVS:
7.
rs1491382020 has merged into rs749249208 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:112731928
(GRCh38)
2:113489505
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112731917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000002.12:g.112731928_112731940del, NC_000002.12:g.112731929_112731940del, NC_000002.12:g.112731932_112731940del, NC_000002.12:g.112731933_112731940del, NC_000002.12:g.112731934_112731940del, NC_000002.12:g.112731935_112731940del, NC_000002.12:g.112731936_112731940del, NC_000002.12:g.112731937_112731940del, NC_000002.12:g.112731938_112731940del, NC_000002.12:g.112731939_112731940del, NC_000002.12:g.112731940del, NC_000002.12:g.112731940dup, NC_000002.12:g.112731939_112731940dup, NC_000002.12:g.112731938_112731940dup, NC_000002.12:g.112731937_112731940dup, NC_000002.12:g.112731936_112731940dup, NC_000002.12:g.112731935_112731940dup, NC_000002.12:g.112731934_112731940dup, NC_000002.12:g.112731933_112731940dup, NC_000002.12:g.112731932_112731940dup, NC_000002.12:g.112731923_112731940dup, NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112731940_112731941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.113489505_113489517del, NC_000002.11:g.113489506_113489517del, NC_000002.11:g.113489509_113489517del, NC_000002.11:g.113489510_113489517del, NC_000002.11:g.113489511_113489517del, NC_000002.11:g.113489512_113489517del, NC_000002.11:g.113489513_113489517del, NC_000002.11:g.113489514_113489517del, NC_000002.11:g.113489515_113489517del, NC_000002.11:g.113489516_113489517del, NC_000002.11:g.113489517del, NC_000002.11:g.113489517dup, NC_000002.11:g.113489516_113489517dup, NC_000002.11:g.113489515_113489517dup, NC_000002.11:g.113489514_113489517dup, NC_000002.11:g.113489513_113489517dup, NC_000002.11:g.113489512_113489517dup, NC_000002.11:g.113489511_113489517dup, NC_000002.11:g.113489510_113489517dup, NC_000002.11:g.113489509_113489517dup, NC_000002.11:g.113489500_113489517dup, NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.113489517_113489518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491360360 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCC
[Show Flanks]
- Chromosome:
- 2:112719985
(GRCh38)
2:113477563
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719985::TCC
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TCC=0.00303/51
(TOMMO)
- HGVS:
9.
rs1491356635 has merged into rs57634251 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:112741951
(GRCh38)
2:113499528
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112741940:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CKAP2L (Varview), NT5DC4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.4541/2274
(1000Genomes)
- HGVS:
NC_000002.12:g.112741951_112741967del, NC_000002.12:g.112741953_112741967del, NC_000002.12:g.112741954_112741967del, NC_000002.12:g.112741955_112741967del, NC_000002.12:g.112741956_112741967del, NC_000002.12:g.112741957_112741967del, NC_000002.12:g.112741958_112741967del, NC_000002.12:g.112741959_112741967del, NC_000002.12:g.112741960_112741967del, NC_000002.12:g.112741961_112741967del, NC_000002.12:g.112741962_112741967del, NC_000002.12:g.112741963_112741967del, NC_000002.12:g.112741964_112741967del, NC_000002.12:g.112741965_112741967del, NC_000002.12:g.112741966_112741967del, NC_000002.12:g.112741967del, NC_000002.12:g.112741967dup, NC_000002.12:g.112741966_112741967dup, NC_000002.12:g.112741965_112741967dup, NC_000002.12:g.112741964_112741967dup, NC_000002.12:g.112741955_112741967dup, NC_000002.11:g.113499528_113499544del, NC_000002.11:g.113499530_113499544del, NC_000002.11:g.113499531_113499544del, NC_000002.11:g.113499532_113499544del, NC_000002.11:g.113499533_113499544del, NC_000002.11:g.113499534_113499544del, NC_000002.11:g.113499535_113499544del, NC_000002.11:g.113499536_113499544del, NC_000002.11:g.113499537_113499544del, NC_000002.11:g.113499538_113499544del, NC_000002.11:g.113499539_113499544del, NC_000002.11:g.113499540_113499544del, NC_000002.11:g.113499541_113499544del, NC_000002.11:g.113499542_113499544del, NC_000002.11:g.113499543_113499544del, NC_000002.11:g.113499544del, NC_000002.11:g.113499544dup, NC_000002.11:g.113499543_113499544dup, NC_000002.11:g.113499542_113499544dup, NC_000002.11:g.113499541_113499544dup, NC_000002.11:g.113499532_113499544dup, NG_041820.1:g.27721_27737del, NG_041820.1:g.27723_27737del, NG_041820.1:g.27724_27737del, NG_041820.1:g.27725_27737del, NG_041820.1:g.27726_27737del, NG_041820.1:g.27727_27737del, NG_041820.1:g.27728_27737del, NG_041820.1:g.27729_27737del, NG_041820.1:g.27730_27737del, NG_041820.1:g.27731_27737del, NG_041820.1:g.27732_27737del, NG_041820.1:g.27733_27737del, NG_041820.1:g.27734_27737del, NG_041820.1:g.27735_27737del, NG_041820.1:g.27736_27737del, NG_041820.1:g.27737del, NG_041820.1:g.27737dup, NG_041820.1:g.27736_27737dup, NG_041820.1:g.27735_27737dup, NG_041820.1:g.27734_27737dup, NG_041820.1:g.27725_27737dup
11.
rs1491283381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:112719986
(GRCh38)
2:113477563
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719984:TCT:T
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.00009/2
(TOMMO)
- HGVS:
12.
rs1491227084 has merged into rs59851361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 2:112734181
(GRCh38)
2:113491758
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112734169:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.112734171GT[5], NC_000002.12:g.112734171GT[8], NC_000002.12:g.112734171GT[9], NC_000002.12:g.112734171GT[10], NC_000002.12:g.112734171GT[11], NC_000002.12:g.112734171GT[12], NC_000002.12:g.112734171GT[13], NC_000002.12:g.112734171GT[14], NC_000002.12:g.112734171GT[15], NC_000002.12:g.112734171GT[17], NC_000002.12:g.112734171GT[18], NC_000002.12:g.112734171GT[19], NC_000002.12:g.112734171GT[20], NC_000002.12:g.112734171GT[21], NC_000002.12:g.112734171GT[22], NC_000002.12:g.112734171GT[23], NC_000002.12:g.112734171GT[24], NC_000002.12:g.112734171GT[25], NC_000002.12:g.112734171GT[26], NC_000002.12:g.112734171GT[27], NC_000002.12:g.112734171GT[28], NC_000002.12:g.112734171GT[29], NC_000002.12:g.112734171GT[30], NC_000002.12:g.112734171GT[31], NC_000002.11:g.113491748GT[5], NC_000002.11:g.113491748GT[8], NC_000002.11:g.113491748GT[9], NC_000002.11:g.113491748GT[10], NC_000002.11:g.113491748GT[11], NC_000002.11:g.113491748GT[12], NC_000002.11:g.113491748GT[13], NC_000002.11:g.113491748GT[14], NC_000002.11:g.113491748GT[15], NC_000002.11:g.113491748GT[17], NC_000002.11:g.113491748GT[18], NC_000002.11:g.113491748GT[19], NC_000002.11:g.113491748GT[20], NC_000002.11:g.113491748GT[21], NC_000002.11:g.113491748GT[22], NC_000002.11:g.113491748GT[23], NC_000002.11:g.113491748GT[24], NC_000002.11:g.113491748GT[25], NC_000002.11:g.113491748GT[26], NC_000002.11:g.113491748GT[27], NC_000002.11:g.113491748GT[28], NC_000002.11:g.113491748GT[29], NC_000002.11:g.113491748GT[30], NC_000002.11:g.113491748GT[31]
13.
rs1491151868 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:112719912
(GRCh38)
2:113477489
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719910:TCT:T
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000029/3
(GnomAD)
- HGVS:
15.
rs1491119219 has merged into rs1362751040 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT,CTCTCTCT
[Show Flanks]
- Chromosome:
- 2:112719934
(GRCh38)
2:113477511
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719932:TCT:T,NC_000002.12:112719932:TCT:TCTCT,NC_000002.12:112719932:TCT:TCTCTCTCT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
TC=0.00056/1
(Korea1K)
- HGVS:
16.
rs1491026222 has merged into rs1245906652 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:112719980
(GRCh38)
2:113477557
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719978:TTT:T,NC_000002.12:112719978:TTT:TT,NC_000002.12:112719978:TTT:TTTT,NC_000002.12:112719978:TTT:TTTTT,NC_000002.12:112719978:TTT:TTTTTTT,NC_000002.12:112719978:TTT:TTTTTTTTTTT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.01031/172
(TOMMO)
- HGVS:
NC_000002.12:g.112719980_112719981del, NC_000002.12:g.112719981del, NC_000002.12:g.112719981dup, NC_000002.12:g.112719980_112719981dup, NC_000002.12:g.112719981_112719982insTTTT, NC_000002.12:g.112719981_112719982insTTTTTTTT, NC_000002.11:g.113477557_113477558del, NC_000002.11:g.113477558del, NC_000002.11:g.113477558dup, NC_000002.11:g.113477557_113477558dup, NC_000002.11:g.113477558_113477559insTTTT, NC_000002.11:g.113477558_113477559insTTTTTTTT
18.
rs1491018302 has merged into rs869063011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 2:112719972
(GRCh38)
2:113477549
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112719970:TTT:T,NC_000002.12:112719970:TTT:TT,NC_000002.12:112719970:TTT:TTTT,NC_000002.12:112719970:TTT:TTTTT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00306/51
(TOMMO)
- HGVS:
19.
rs1491007082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:112731916
(GRCh38)
2:113489494
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112731916:CTTTTTTTTTTTTTTTTTTTTTTT:CTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
20.
rs1491006653 has merged into rs11375761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:112730319
(GRCh38)
2:113487896
(GRCh37)
- Canonical SPDI:
- NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112730310:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NT5DC4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000002.12:g.112730319_112730331del, NC_000002.12:g.112730323_112730331del, NC_000002.12:g.112730324_112730331del, NC_000002.12:g.112730326_112730331del, NC_000002.12:g.112730327_112730331del, NC_000002.12:g.112730328_112730331del, NC_000002.12:g.112730329_112730331del, NC_000002.12:g.112730330_112730331del, NC_000002.12:g.112730331del, NC_000002.12:g.112730331dup, NC_000002.12:g.112730330_112730331dup, NC_000002.12:g.112730329_112730331dup, NC_000002.12:g.112730328_112730331dup, NC_000002.12:g.112730327_112730331dup, NC_000002.12:g.112730326_112730331dup, NC_000002.12:g.112730325_112730331dup, NC_000002.12:g.112730324_112730331dup, NC_000002.12:g.112730323_112730331dup, NC_000002.12:g.112730322_112730331dup, NC_000002.12:g.112730320_112730331dup, NC_000002.12:g.112730315_112730331dup, NC_000002.12:g.112730331_112730332insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.113487896_113487908del, NC_000002.11:g.113487900_113487908del, NC_000002.11:g.113487901_113487908del, NC_000002.11:g.113487903_113487908del, NC_000002.11:g.113487904_113487908del, NC_000002.11:g.113487905_113487908del, NC_000002.11:g.113487906_113487908del, NC_000002.11:g.113487907_113487908del, NC_000002.11:g.113487908del, NC_000002.11:g.113487908dup, NC_000002.11:g.113487907_113487908dup, NC_000002.11:g.113487906_113487908dup, NC_000002.11:g.113487905_113487908dup, NC_000002.11:g.113487904_113487908dup, NC_000002.11:g.113487903_113487908dup, NC_000002.11:g.113487902_113487908dup, NC_000002.11:g.113487901_113487908dup, NC_000002.11:g.113487900_113487908dup, NC_000002.11:g.113487899_113487908dup, NC_000002.11:g.113487897_113487908dup, NC_000002.11:g.113487892_113487908dup, NC_000002.11:g.113487908_113487909insAAAAAAAAAAAAAAAAAAAAAAAAAAA