Links from Gene
Items: 1 to 20 of 1000
1.
rs1491571610 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77905305
(GRCh38)
14:78371649
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77905305:TTTTTTTTTT:TTTTTTTTTTCTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTCTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTC=0./0
(GnomAD)
- HGVS:
2.
rs1491543627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 14:77852656
(GRCh38)
14:78318999
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77852654:AAA:A
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00331/60
(GnomAD)
-=0.00784/93
(TOMMO)
- HGVS:
3.
rs1491541176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 14:77852660
(GRCh38)
14:78319003
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77852658:AAA:A
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00228/27
(
ALFA)
-=0.0033/4
(Korea1K)
-=0.00614/71
(TOMMO)
-=0.0102/116
(GnomAD)
- HGVS:
4.
rs1491504271 has merged into rs770430499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77807046
(GRCh38)
14:78273389
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.175/7
(GENOME_DK)
- HGVS:
NC_000014.9:g.77807046_77807055del, NC_000014.9:g.77807048_77807055del, NC_000014.9:g.77807050_77807055del, NC_000014.9:g.77807052_77807055del, NC_000014.9:g.77807053_77807055del, NC_000014.9:g.77807054_77807055del, NC_000014.9:g.77807055del, NC_000014.9:g.77807055dup, NC_000014.9:g.77807054_77807055dup, NC_000014.9:g.77807053_77807055dup, NC_000014.8:g.78273389_78273398del, NC_000014.8:g.78273391_78273398del, NC_000014.8:g.78273393_78273398del, NC_000014.8:g.78273395_78273398del, NC_000014.8:g.78273396_78273398del, NC_000014.8:g.78273397_78273398del, NC_000014.8:g.78273398del, NC_000014.8:g.78273398dup, NC_000014.8:g.78273397_78273398dup, NC_000014.8:g.78273396_78273398dup
5.
rs1491498375 has merged into rs35265585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:77821903
(GRCh38)
14:78288246
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77821891:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3568/1787
(1000Genomes)
- HGVS:
NC_000014.9:g.77821903_77821909del, NC_000014.9:g.77821905_77821909del, NC_000014.9:g.77821906_77821909del, NC_000014.9:g.77821907_77821909del, NC_000014.9:g.77821908_77821909del, NC_000014.9:g.77821909del, NC_000014.9:g.77821909dup, NC_000014.9:g.77821908_77821909dup, NC_000014.9:g.77821907_77821909dup, NC_000014.9:g.77821906_77821909dup, NC_000014.9:g.77821905_77821909dup, NC_000014.9:g.77821904_77821909dup, NC_000014.9:g.77821903_77821909dup, NC_000014.9:g.77821902_77821909dup, NC_000014.9:g.77821901_77821909dup, NC_000014.9:g.77821900_77821909dup, NC_000014.9:g.77821898_77821909dup, NC_000014.8:g.78288246_78288252del, NC_000014.8:g.78288248_78288252del, NC_000014.8:g.78288249_78288252del, NC_000014.8:g.78288250_78288252del, NC_000014.8:g.78288251_78288252del, NC_000014.8:g.78288252del, NC_000014.8:g.78288252dup, NC_000014.8:g.78288251_78288252dup, NC_000014.8:g.78288250_78288252dup, NC_000014.8:g.78288249_78288252dup, NC_000014.8:g.78288248_78288252dup, NC_000014.8:g.78288247_78288252dup, NC_000014.8:g.78288246_78288252dup, NC_000014.8:g.78288245_78288252dup, NC_000014.8:g.78288244_78288252dup, NC_000014.8:g.78288243_78288252dup, NC_000014.8:g.78288241_78288252dup
7.
rs1491466362 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:77839919
(GRCh38)
14:78306263
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77839919::G
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00118/14
(
ALFA)
G=0.02602/169
(GnomAD)
- HGVS:
8.
rs1491442696 has merged into rs71303864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77852916
(GRCh38)
14:78319259
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77852907:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.77852916_77852931del, NC_000014.9:g.77852918_77852931del, NC_000014.9:g.77852919_77852931del, NC_000014.9:g.77852920_77852931del, NC_000014.9:g.77852921_77852931del, NC_000014.9:g.77852922_77852931del, NC_000014.9:g.77852923_77852931del, NC_000014.9:g.77852924_77852931del, NC_000014.9:g.77852925_77852931del, NC_000014.9:g.77852926_77852931del, NC_000014.9:g.77852927_77852931del, NC_000014.9:g.77852928_77852931del, NC_000014.9:g.77852929_77852931del, NC_000014.9:g.77852930_77852931del, NC_000014.9:g.77852931del, NC_000014.9:g.77852931dup, NC_000014.9:g.77852930_77852931dup, NC_000014.9:g.77852929_77852931dup, NC_000014.9:g.77852928_77852931dup, NC_000014.9:g.77852927_77852931dup, NC_000014.9:g.77852926_77852931dup, NC_000014.9:g.77852925_77852931dup, NC_000014.9:g.77852924_77852931dup, NC_000014.9:g.77852923_77852931dup, NC_000014.9:g.77852922_77852931dup, NC_000014.9:g.77852921_77852931dup, NC_000014.9:g.77852919_77852931dup, NC_000014.9:g.77852918_77852931dup, NC_000014.9:g.77852917_77852931dup, NC_000014.9:g.77852916_77852931dup, NC_000014.9:g.77852915_77852931dup, NC_000014.8:g.78319259_78319274del, NC_000014.8:g.78319261_78319274del, NC_000014.8:g.78319262_78319274del, NC_000014.8:g.78319263_78319274del, NC_000014.8:g.78319264_78319274del, NC_000014.8:g.78319265_78319274del, NC_000014.8:g.78319266_78319274del, NC_000014.8:g.78319267_78319274del, NC_000014.8:g.78319268_78319274del, NC_000014.8:g.78319269_78319274del, NC_000014.8:g.78319270_78319274del, NC_000014.8:g.78319271_78319274del, NC_000014.8:g.78319272_78319274del, NC_000014.8:g.78319273_78319274del, NC_000014.8:g.78319274del, NC_000014.8:g.78319274dup, NC_000014.8:g.78319273_78319274dup, NC_000014.8:g.78319272_78319274dup, NC_000014.8:g.78319271_78319274dup, NC_000014.8:g.78319270_78319274dup, NC_000014.8:g.78319269_78319274dup, NC_000014.8:g.78319268_78319274dup, NC_000014.8:g.78319267_78319274dup, NC_000014.8:g.78319266_78319274dup, NC_000014.8:g.78319265_78319274dup, NC_000014.8:g.78319264_78319274dup, NC_000014.8:g.78319262_78319274dup, NC_000014.8:g.78319261_78319274dup, NC_000014.8:g.78319260_78319274dup, NC_000014.8:g.78319259_78319274dup, NC_000014.8:g.78319258_78319274dup
10.
rs1491417861 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:77837154
(GRCh38)
14:78303498
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77837154::C
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491413385 has merged into rs995163952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:77814703
(GRCh38)
14:78281046
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:77814695:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.77814703_77814719del, NC_000014.9:g.77814704_77814719del, NC_000014.9:g.77814705_77814719del, NC_000014.9:g.77814706_77814719del, NC_000014.9:g.77814707_77814719del, NC_000014.9:g.77814708_77814719del, NC_000014.9:g.77814709_77814719del, NC_000014.9:g.77814710_77814719del, NC_000014.9:g.77814711_77814719del, NC_000014.9:g.77814713_77814719del, NC_000014.9:g.77814716_77814719del, NC_000014.9:g.77814717_77814719del, NC_000014.9:g.77814718_77814719del, NC_000014.9:g.77814719del, NC_000014.9:g.77814719dup, NC_000014.9:g.77814718_77814719dup, NC_000014.9:g.77814717_77814719dup, NC_000014.9:g.77814716_77814719dup, NC_000014.9:g.77814715_77814719dup, NC_000014.9:g.77814714_77814719dup, NC_000014.9:g.77814713_77814719dup, NC_000014.9:g.77814711_77814719dup, NC_000014.9:g.77814710_77814719dup, NC_000014.9:g.77814709_77814719dup, NC_000014.9:g.77814708_77814719dup, NC_000014.9:g.77814707_77814719dup, NC_000014.9:g.77814706_77814719dup, NC_000014.9:g.77814705_77814719dup, NC_000014.9:g.77814704_77814719dup, NC_000014.9:g.77814703_77814719dup, NC_000014.9:g.77814702_77814719dup, NC_000014.8:g.78281046_78281062del, NC_000014.8:g.78281047_78281062del, NC_000014.8:g.78281048_78281062del, NC_000014.8:g.78281049_78281062del, NC_000014.8:g.78281050_78281062del, NC_000014.8:g.78281051_78281062del, NC_000014.8:g.78281052_78281062del, NC_000014.8:g.78281053_78281062del, NC_000014.8:g.78281054_78281062del, NC_000014.8:g.78281056_78281062del, NC_000014.8:g.78281059_78281062del, NC_000014.8:g.78281060_78281062del, NC_000014.8:g.78281061_78281062del, NC_000014.8:g.78281062del, NC_000014.8:g.78281062dup, NC_000014.8:g.78281061_78281062dup, NC_000014.8:g.78281060_78281062dup, NC_000014.8:g.78281059_78281062dup, NC_000014.8:g.78281058_78281062dup, NC_000014.8:g.78281057_78281062dup, NC_000014.8:g.78281056_78281062dup, NC_000014.8:g.78281054_78281062dup, NC_000014.8:g.78281053_78281062dup, NC_000014.8:g.78281052_78281062dup, NC_000014.8:g.78281051_78281062dup, NC_000014.8:g.78281050_78281062dup, NC_000014.8:g.78281049_78281062dup, NC_000014.8:g.78281048_78281062dup, NC_000014.8:g.78281047_78281062dup, NC_000014.8:g.78281046_78281062dup, NC_000014.8:g.78281045_78281062dup
13.
rs1491395860 has merged into rs60062127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTGGTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77854567
(GRCh38)
14:78320910
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTGGTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77854555:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
TTTTT=0.23/1152
(1000Genomes)
- HGVS:
NC_000014.9:g.77854567_77854574del, NC_000014.9:g.77854568_77854574del, NC_000014.9:g.77854569_77854574del, NC_000014.9:g.77854570_77854574del, NC_000014.9:g.77854571_77854574del, NC_000014.9:g.77854572_77854574del, NC_000014.9:g.77854573_77854574del, NC_000014.9:g.77854574del, NC_000014.9:g.77854574dup, NC_000014.9:g.77854573_77854574dup, NC_000014.9:g.77854572_77854574dup, NC_000014.9:g.77854571_77854574dup, NC_000014.9:g.77854569_77854574dup, NC_000014.9:g.77854556_77854574T[26]GTGGTTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.77854567_77854574dup, NC_000014.9:g.77854566_77854574dup, NC_000014.9:g.77854556_77854574T[28]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.77854565_77854574dup, NC_000014.8:g.78320910_78320917del, NC_000014.8:g.78320911_78320917del, NC_000014.8:g.78320912_78320917del, NC_000014.8:g.78320913_78320917del, NC_000014.8:g.78320914_78320917del, NC_000014.8:g.78320915_78320917del, NC_000014.8:g.78320916_78320917del, NC_000014.8:g.78320917del, NC_000014.8:g.78320917dup, NC_000014.8:g.78320916_78320917dup, NC_000014.8:g.78320915_78320917dup, NC_000014.8:g.78320914_78320917dup, NC_000014.8:g.78320912_78320917dup, NC_000014.8:g.78320899_78320917T[26]GTGGTTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.78320910_78320917dup, NC_000014.8:g.78320909_78320917dup, NC_000014.8:g.78320899_78320917T[28]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.78320908_78320917dup
15.
rs1491347477 has merged into rs56672313 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77836785
(GRCh38)
14:78303128
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77836773:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000014.9:g.77836785_77836791del, NC_000014.9:g.77836786_77836791del, NC_000014.9:g.77836787_77836791del, NC_000014.9:g.77836788_77836791del, NC_000014.9:g.77836789_77836791del, NC_000014.9:g.77836790_77836791del, NC_000014.9:g.77836791del, NC_000014.9:g.77836791dup, NC_000014.9:g.77836790_77836791dup, NC_000014.9:g.77836789_77836791dup, NC_000014.9:g.77836788_77836791dup, NC_000014.9:g.77836787_77836791dup, NC_000014.9:g.77836784_77836791dup, NC_000014.8:g.78303128_78303134del, NC_000014.8:g.78303129_78303134del, NC_000014.8:g.78303130_78303134del, NC_000014.8:g.78303131_78303134del, NC_000014.8:g.78303132_78303134del, NC_000014.8:g.78303133_78303134del, NC_000014.8:g.78303134del, NC_000014.8:g.78303134dup, NC_000014.8:g.78303133_78303134dup, NC_000014.8:g.78303132_78303134dup, NC_000014.8:g.78303131_78303134dup, NC_000014.8:g.78303130_78303134dup, NC_000014.8:g.78303127_78303134dup
16.
rs1491342541 has merged into rs1287274541 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 14:77852897
(GRCh38)
14:78319240
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:77852883:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.77852885AT[6], NC_000014.9:g.77852885AT[7], NC_000014.9:g.77852885AT[8], NC_000014.9:g.77852885AT[9], NC_000014.9:g.77852885AT[10], NC_000014.9:g.77852885AT[11], NC_000014.9:g.77852885AT[13], NC_000014.9:g.77852885AT[14], NC_000014.9:g.77852885AT[15], NC_000014.9:g.77852885AT[16], NC_000014.9:g.77852885AT[17], NC_000014.9:g.77852885AT[18], NC_000014.9:g.77852885AT[19], NC_000014.9:g.77852885AT[21], NC_000014.9:g.77852885AT[22], NC_000014.9:g.77852885AT[23], NC_000014.9:g.77852885AT[24], NC_000014.9:g.77852885AT[25], NC_000014.9:g.77852885AT[26], NC_000014.9:g.77852885AT[27], NC_000014.9:g.77852885AT[28], NC_000014.8:g.78319228AT[6], NC_000014.8:g.78319228AT[7], NC_000014.8:g.78319228AT[8], NC_000014.8:g.78319228AT[9], NC_000014.8:g.78319228AT[10], NC_000014.8:g.78319228AT[11], NC_000014.8:g.78319228AT[13], NC_000014.8:g.78319228AT[14], NC_000014.8:g.78319228AT[15], NC_000014.8:g.78319228AT[16], NC_000014.8:g.78319228AT[17], NC_000014.8:g.78319228AT[18], NC_000014.8:g.78319228AT[19], NC_000014.8:g.78319228AT[21], NC_000014.8:g.78319228AT[22], NC_000014.8:g.78319228AT[23], NC_000014.8:g.78319228AT[24], NC_000014.8:g.78319228AT[25], NC_000014.8:g.78319228AT[26], NC_000014.8:g.78319228AT[27], NC_000014.8:g.78319228AT[28]
17.
rs1491283364 has merged into rs56211176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77815209
(GRCh38)
14:78281552
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77815199:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TT=0.3177/1591
(1000Genomes)
- HGVS:
NC_000014.9:g.77815209_77815217del, NC_000014.9:g.77815210_77815217del, NC_000014.9:g.77815211_77815217del, NC_000014.9:g.77815212_77815217del, NC_000014.9:g.77815213_77815217del, NC_000014.9:g.77815214_77815217del, NC_000014.9:g.77815215_77815217del, NC_000014.9:g.77815216_77815217del, NC_000014.9:g.77815217del, NC_000014.9:g.77815217dup, NC_000014.9:g.77815216_77815217dup, NC_000014.9:g.77815212_77815217dup, NC_000014.9:g.77815211_77815217dup, NC_000014.9:g.77815204_77815217dup, NC_000014.9:g.77815217_77815218insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.78281552_78281560del, NC_000014.8:g.78281553_78281560del, NC_000014.8:g.78281554_78281560del, NC_000014.8:g.78281555_78281560del, NC_000014.8:g.78281556_78281560del, NC_000014.8:g.78281557_78281560del, NC_000014.8:g.78281558_78281560del, NC_000014.8:g.78281559_78281560del, NC_000014.8:g.78281560del, NC_000014.8:g.78281560dup, NC_000014.8:g.78281559_78281560dup, NC_000014.8:g.78281555_78281560dup, NC_000014.8:g.78281554_78281560dup, NC_000014.8:g.78281547_78281560dup, NC_000014.8:g.78281560_78281561insTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491256506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATAAATATATATATATATATTA,AATAAATATATATATATATTA,AATATATATATATATTTATATATATATATATATATTA
[Show Flanks]
- Chromosome:
- 14:77852661
(GRCh38)
14:78319005
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77852661:TA:TAAATAAATATATATATATATATTA,NC_000014.9:77852661:TA:TAAATAAATATATATATATATTA,NC_000014.9:77852661:TA:TAAATATATATATATATTTATATATATATATATATATTA
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAATAAATATATATATATATTA=0./0
(
ALFA)
TAAATATATATATATATTTATATATATATATATATAT=0.00021/2
(TOMMO)
- HGVS:
20.
rs1491242061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:77812598
(GRCh38)
14:78278942
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77812598:C:CC
- Gene:
- ADCK1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: