SNP Links for Gene (Select 1769) - SNP

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Select item 14915884501.

rs1491588450 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:38818536 (GRCh38)
6:38786312 (GRCh37)
Canonical SPDI:: NC_000006.12:38818535:GC:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.04696/181 (ALSPAC)
-=0.05394/200 (TWINSUK)
HGVS:: NC_000006.12:g.38818536_38818537del, NC_000006.11:g.38786312_38786313del, NG_041805.1:g.108196_108197del

Select item 14915879872.

rs1491587987 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:38715921 (GRCh38)
6:38683697 (GRCh37)
Canonical SPDI:: NC_000006.12:38715919:AAA:A
Gene:: DNAH8 (Varview), DNAH8-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00054/9 (TOMMO)
-=0.00152/60 (GnomAD)
HGVS:: NC_000006.12:g.38715921_38715922del, NC_000006.11:g.38683697_38683698del, NG_041805.1:g.5581_5582del

Select item 14915844743.

rs1491584474 has merged into rs368543739 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:38981047 (GRCh38)
6:38948823 (GRCh37)
Canonical SPDI:: NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:38981028:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DNAH8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000006.12:g.38981029GT[9], NC_000006.12:g.38981029GT[10], NC_000006.12:g.38981029GT[11], NC_000006.12:g.38981029GT[12], NC_000006.12:g.38981029GT[13], NC_000006.12:g.38981029GT[14], NC_000006.12:g.38981029GT[15], NC_000006.12:g.38981029GT[16], NC_000006.12:g.38981029GT[18], NC_000006.12:g.38981029GT[19], NC_000006.12:g.38981029GT[20], NC_000006.12:g.38981029GT[21], NC_000006.12:g.38981029GT[22], NC_000006.12:g.38981029GT[23], NC_000006.12:g.38981029GT[24], NC_000006.12:g.38981029GT[25], NC_000006.11:g.38948805GT[9], NC_000006.11:g.38948805GT[10], NC_000006.11:g.38948805GT[11], NC_000006.11:g.38948805GT[12], NC_000006.11:g.38948805GT[13], NC_000006.11:g.38948805GT[14], NC_000006.11:g.38948805GT[15], NC_000006.11:g.38948805GT[16], NC_000006.11:g.38948805GT[18], NC_000006.11:g.38948805GT[19], NC_000006.11:g.38948805GT[20], NC_000006.11:g.38948805GT[21], NC_000006.11:g.38948805GT[22], NC_000006.11:g.38948805GT[23], NC_000006.11:g.38948805GT[24], NC_000006.11:g.38948805GT[25], NG_041805.1:g.270689GT[9], NG_041805.1:g.270689GT[10], NG_041805.1:g.270689GT[11], NG_041805.1:g.270689GT[12], NG_041805.1:g.270689GT[13], NG_041805.1:g.270689GT[14], NG_041805.1:g.270689GT[15], NG_041805.1:g.270689GT[16], NG_041805.1:g.270689GT[18], NG_041805.1:g.270689GT[19], NG_041805.1:g.270689GT[20], NG_041805.1:g.270689GT[21], NG_041805.1:g.270689GT[22], NG_041805.1:g.270689GT[23], NG_041805.1:g.270689GT[24], NG_041805.1:g.270689GT[25]

Select item 14915823314.

rs1491582331 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:38963701 (GRCh38)
6:38931477 (GRCh37)
Canonical SPDI:: NC_000006.12:38963700:TA:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00015/4 (TOMMO)
HGVS:: NC_000006.12:g.38963701_38963702del, NC_000006.11:g.38931477_38931478del, NG_041805.1:g.253361_253362del

Select item 14915738005.

rs1491573800 has merged into rs11340457 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:38743017 (GRCh38)
6:38710793 (GRCh37)
Canonical SPDI:: NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38743007:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.38743017_38743034del, NC_000006.12:g.38743019_38743034del, NC_000006.12:g.38743021_38743034del, NC_000006.12:g.38743022_38743034del, NC_000006.12:g.38743026_38743034del, NC_000006.12:g.38743027_38743034del, NC_000006.12:g.38743028_38743034del, NC_000006.12:g.38743029_38743034del, NC_000006.12:g.38743030_38743034del, NC_000006.12:g.38743031_38743034del, NC_000006.12:g.38743032_38743034del, NC_000006.12:g.38743033_38743034del, NC_000006.12:g.38743034del, NC_000006.12:g.38743034dup, NC_000006.12:g.38743033_38743034dup, NC_000006.12:g.38743032_38743034dup, NC_000006.12:g.38743031_38743034dup, NC_000006.12:g.38743030_38743034dup, NC_000006.12:g.38743029_38743034dup, NC_000006.12:g.38743028_38743034dup, NC_000006.12:g.38743027_38743034dup, NC_000006.12:g.38743026_38743034dup, NC_000006.12:g.38743025_38743034dup, NC_000006.12:g.38743024_38743034dup, NC_000006.12:g.38743023_38743034dup, NC_000006.12:g.38743022_38743034dup, NC_000006.12:g.38743021_38743034dup, NC_000006.12:g.38743018_38743034dup, NC_000006.12:g.38743034_38743035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.38743034_38743035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.38743034_38743035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38710793_38710810del, NC_000006.11:g.38710795_38710810del, NC_000006.11:g.38710797_38710810del, NC_000006.11:g.38710798_38710810del, NC_000006.11:g.38710802_38710810del, NC_000006.11:g.38710803_38710810del, NC_000006.11:g.38710804_38710810del, NC_000006.11:g.38710805_38710810del, NC_000006.11:g.38710806_38710810del, NC_000006.11:g.38710807_38710810del, NC_000006.11:g.38710808_38710810del, NC_000006.11:g.38710809_38710810del, NC_000006.11:g.38710810del, NC_000006.11:g.38710810dup, NC_000006.11:g.38710809_38710810dup, NC_000006.11:g.38710808_38710810dup, NC_000006.11:g.38710807_38710810dup, NC_000006.11:g.38710806_38710810dup, NC_000006.11:g.38710805_38710810dup, NC_000006.11:g.38710804_38710810dup, NC_000006.11:g.38710803_38710810dup, NC_000006.11:g.38710802_38710810dup, NC_000006.11:g.38710801_38710810dup, NC_000006.11:g.38710800_38710810dup, NC_000006.11:g.38710799_38710810dup, NC_000006.11:g.38710798_38710810dup, NC_000006.11:g.38710797_38710810dup, NC_000006.11:g.38710794_38710810dup, NC_000006.11:g.38710810_38710811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38710810_38710811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38710810_38710811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.32677_32694del, NG_041805.1:g.32679_32694del, NG_041805.1:g.32681_32694del, NG_041805.1:g.32682_32694del, NG_041805.1:g.32686_32694del, NG_041805.1:g.32687_32694del, NG_041805.1:g.32688_32694del, NG_041805.1:g.32689_32694del, NG_041805.1:g.32690_32694del, NG_041805.1:g.32691_32694del, NG_041805.1:g.32692_32694del, NG_041805.1:g.32693_32694del, NG_041805.1:g.32694del, NG_041805.1:g.32694dup, NG_041805.1:g.32693_32694dup, NG_041805.1:g.32692_32694dup, NG_041805.1:g.32691_32694dup, NG_041805.1:g.32690_32694dup, NG_041805.1:g.32689_32694dup, NG_041805.1:g.32688_32694dup, NG_041805.1:g.32687_32694dup, NG_041805.1:g.32686_32694dup, NG_041805.1:g.32685_32694dup, NG_041805.1:g.32684_32694dup, NG_041805.1:g.32683_32694dup, NG_041805.1:g.32682_32694dup, NG_041805.1:g.32681_32694dup, NG_041805.1:g.32678_32694dup, NG_041805.1:g.32694_32695insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.32694_32695insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.32694_32695insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915684486.

rs1491568448 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:38795579 (GRCh38)
6:38763355 (GRCh37)
Canonical SPDI:: NC_000006.12:38795578:CA:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000006.12:g.38795579_38795580del, NC_000006.11:g.38763355_38763356del, NG_041805.1:g.85239_85240del

Select item 14915569757.

rs1491556975 has merged into rs34980133 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:38772038 (GRCh38)
6:38739814 (GRCh37)
Canonical SPDI:: NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38772029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.38772038_38772046del, NC_000006.12:g.38772039_38772046del, NC_000006.12:g.38772040_38772046del, NC_000006.12:g.38772042_38772046del, NC_000006.12:g.38772043_38772046del, NC_000006.12:g.38772044_38772046del, NC_000006.12:g.38772045_38772046del, NC_000006.12:g.38772046del, NC_000006.12:g.38772046dup, NC_000006.12:g.38772045_38772046dup, NC_000006.12:g.38772044_38772046dup, NC_000006.12:g.38772043_38772046dup, NC_000006.12:g.38772042_38772046dup, NC_000006.12:g.38772037_38772046dup, NC_000006.11:g.38739814_38739822del, NC_000006.11:g.38739815_38739822del, NC_000006.11:g.38739816_38739822del, NC_000006.11:g.38739818_38739822del, NC_000006.11:g.38739819_38739822del, NC_000006.11:g.38739820_38739822del, NC_000006.11:g.38739821_38739822del, NC_000006.11:g.38739822del, NC_000006.11:g.38739822dup, NC_000006.11:g.38739821_38739822dup, NC_000006.11:g.38739820_38739822dup, NC_000006.11:g.38739819_38739822dup, NC_000006.11:g.38739818_38739822dup, NC_000006.11:g.38739813_38739822dup, NG_041805.1:g.61698_61706del, NG_041805.1:g.61699_61706del, NG_041805.1:g.61700_61706del, NG_041805.1:g.61702_61706del, NG_041805.1:g.61703_61706del, NG_041805.1:g.61704_61706del, NG_041805.1:g.61705_61706del, NG_041805.1:g.61706del, NG_041805.1:g.61706dup, NG_041805.1:g.61705_61706dup, NG_041805.1:g.61704_61706dup, NG_041805.1:g.61703_61706dup, NG_041805.1:g.61702_61706dup, NG_041805.1:g.61697_61706dup

Select item 14915337328.

rs1491533732 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTATGACA [Show Flanks]
Chromosome:: 6:38826408 (GRCh38)
6:38794185 (GRCh37)
Canonical SPDI:: NC_000006.12:38826408::GTATGACA
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.38826408_38826409insGTATGACA, NC_000006.11:g.38794184_38794185insGTATGACA, NG_041805.1:g.116068_116069insGTATGACA

Select item 14915319309.

rs1491531930 has merged into rs58557655 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:38726863 (GRCh38)
6:38694639 (GRCh37)
Canonical SPDI:: NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:38726851:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.38726863_38726875del, NC_000006.12:g.38726864_38726875del, NC_000006.12:g.38726865_38726875del, NC_000006.12:g.38726866_38726875del, NC_000006.12:g.38726867_38726875del, NC_000006.12:g.38726868_38726875del, NC_000006.12:g.38726869_38726875del, NC_000006.12:g.38726870_38726875del, NC_000006.12:g.38726871_38726875del, NC_000006.12:g.38726872_38726875del, NC_000006.12:g.38726873_38726875del, NC_000006.12:g.38726874_38726875del, NC_000006.12:g.38726875del, NC_000006.12:g.38726875dup, NC_000006.12:g.38726874_38726875dup, NC_000006.12:g.38726873_38726875dup, NC_000006.12:g.38726872_38726875dup, NC_000006.12:g.38726868_38726875dup, NC_000006.12:g.38726866_38726875dup, NC_000006.12:g.38726859_38726875dup, NC_000006.11:g.38694639_38694651del, NC_000006.11:g.38694640_38694651del, NC_000006.11:g.38694641_38694651del, NC_000006.11:g.38694642_38694651del, NC_000006.11:g.38694643_38694651del, NC_000006.11:g.38694644_38694651del, NC_000006.11:g.38694645_38694651del, NC_000006.11:g.38694646_38694651del, NC_000006.11:g.38694647_38694651del, NC_000006.11:g.38694648_38694651del, NC_000006.11:g.38694649_38694651del, NC_000006.11:g.38694650_38694651del, NC_000006.11:g.38694651del, NC_000006.11:g.38694651dup, NC_000006.11:g.38694650_38694651dup, NC_000006.11:g.38694649_38694651dup, NC_000006.11:g.38694648_38694651dup, NC_000006.11:g.38694644_38694651dup, NC_000006.11:g.38694642_38694651dup, NC_000006.11:g.38694635_38694651dup, NG_041805.1:g.16523_16535del, NG_041805.1:g.16524_16535del, NG_041805.1:g.16525_16535del, NG_041805.1:g.16526_16535del, NG_041805.1:g.16527_16535del, NG_041805.1:g.16528_16535del, NG_041805.1:g.16529_16535del, NG_041805.1:g.16530_16535del, NG_041805.1:g.16531_16535del, NG_041805.1:g.16532_16535del, NG_041805.1:g.16533_16535del, NG_041805.1:g.16534_16535del, NG_041805.1:g.16535del, NG_041805.1:g.16535dup, NG_041805.1:g.16534_16535dup, NG_041805.1:g.16533_16535dup, NG_041805.1:g.16532_16535dup, NG_041805.1:g.16528_16535dup, NG_041805.1:g.16526_16535dup, NG_041805.1:g.16519_16535dup

Select item 149152654810.

rs1491526548 has merged into rs70981599 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:38932204 (GRCh38)
6:38899980 (GRCh37)
Canonical SPDI:: NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:38932183:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: DNAH8 (Varview), DNAH8-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACAC=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000006.12:g.38932184AC[10], NC_000006.12:g.38932184AC[11], NC_000006.12:g.38932184AC[13], NC_000006.12:g.38932184AC[14], NC_000006.12:g.38932184AC[15], NC_000006.12:g.38932184AC[16], NC_000006.12:g.38932184AC[18], NC_000006.12:g.38932184AC[19], NC_000006.12:g.38932184AC[20], NC_000006.12:g.38932184AC[21], NC_000006.12:g.38932184AC[22], NC_000006.12:g.38932184AC[23], NC_000006.12:g.38932184AC[24], NC_000006.12:g.38932184AC[25], NC_000006.12:g.38932184AC[26], NC_000006.12:g.38932184AC[27], NC_000006.12:g.38932184AC[28], NC_000006.12:g.38932184AC[29], NC_000006.12:g.38932184AC[31], NC_000006.12:g.38932184AC[33], NC_000006.11:g.38899960AC[10], NC_000006.11:g.38899960AC[11], NC_000006.11:g.38899960AC[13], NC_000006.11:g.38899960AC[14], NC_000006.11:g.38899960AC[15], NC_000006.11:g.38899960AC[16], NC_000006.11:g.38899960AC[18], NC_000006.11:g.38899960AC[19], NC_000006.11:g.38899960AC[20], NC_000006.11:g.38899960AC[21], NC_000006.11:g.38899960AC[22], NC_000006.11:g.38899960AC[23], NC_000006.11:g.38899960AC[24], NC_000006.11:g.38899960AC[25], NC_000006.11:g.38899960AC[26], NC_000006.11:g.38899960AC[27], NC_000006.11:g.38899960AC[28], NC_000006.11:g.38899960AC[29], NC_000006.11:g.38899960AC[31], NC_000006.11:g.38899960AC[33], NG_041805.1:g.221844AC[10], NG_041805.1:g.221844AC[11], NG_041805.1:g.221844AC[13], NG_041805.1:g.221844AC[14], NG_041805.1:g.221844AC[15], NG_041805.1:g.221844AC[16], NG_041805.1:g.221844AC[18], NG_041805.1:g.221844AC[19], NG_041805.1:g.221844AC[20], NG_041805.1:g.221844AC[21], NG_041805.1:g.221844AC[22], NG_041805.1:g.221844AC[23], NG_041805.1:g.221844AC[24], NG_041805.1:g.221844AC[25], NG_041805.1:g.221844AC[26], NG_041805.1:g.221844AC[27], NG_041805.1:g.221844AC[28], NG_041805.1:g.221844AC[29], NG_041805.1:g.221844AC[31], NG_041805.1:g.221844AC[33]

Select item 149151491711.

rs1491514917 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:38831430 (GRCh38)
6:38799206 (GRCh37)
Canonical SPDI:: NC_000006.12:38831429:CA:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000006.12:g.38831430_38831431del, NC_000006.11:g.38799206_38799207del, NG_041805.1:g.121090_121091del

Select item 149151395412.

rs1491513954 has merged into rs70981590 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:38818549 (GRCh38)
6:38786325 (GRCh37)
Canonical SPDI:: NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38818537:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.38818549_38818553del, NC_000006.12:g.38818550_38818553del, NC_000006.12:g.38818551_38818553del, NC_000006.12:g.38818552_38818553del, NC_000006.12:g.38818553del, NC_000006.12:g.38818553dup, NC_000006.12:g.38818552_38818553dup, NC_000006.12:g.38818551_38818553dup, NC_000006.12:g.38818550_38818553dup, NC_000006.12:g.38818549_38818553dup, NC_000006.12:g.38818548_38818553dup, NC_000006.12:g.38818547_38818553dup, NC_000006.12:g.38818546_38818553dup, NC_000006.12:g.38818545_38818553dup, NC_000006.12:g.38818544_38818553dup, NC_000006.12:g.38818543_38818553dup, NC_000006.12:g.38818542_38818553dup, NC_000006.12:g.38818541_38818553dup, NC_000006.12:g.38818540_38818553dup, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818553_38818554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38818538_38818553A[49]TAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[32]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[29]GAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[27]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[26]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[24]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[23]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38818538_38818553A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786325_38786329del, NC_000006.11:g.38786326_38786329del, NC_000006.11:g.38786327_38786329del, NC_000006.11:g.38786328_38786329del, NC_000006.11:g.38786329del, NC_000006.11:g.38786329dup, NC_000006.11:g.38786328_38786329dup, NC_000006.11:g.38786327_38786329dup, NC_000006.11:g.38786326_38786329dup, NC_000006.11:g.38786325_38786329dup, NC_000006.11:g.38786324_38786329dup, NC_000006.11:g.38786323_38786329dup, NC_000006.11:g.38786322_38786329dup, NC_000006.11:g.38786321_38786329dup, NC_000006.11:g.38786320_38786329dup, NC_000006.11:g.38786319_38786329dup, NC_000006.11:g.38786318_38786329dup, NC_000006.11:g.38786317_38786329dup, NC_000006.11:g.38786316_38786329dup, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786329_38786330insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38786314_38786329A[49]TAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[32]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[29]GAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[27]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[26]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[24]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[23]GAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38786314_38786329A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108209_108213del, NG_041805.1:g.108210_108213del, NG_041805.1:g.108211_108213del, NG_041805.1:g.108212_108213del, NG_041805.1:g.108213del, NG_041805.1:g.108213dup, NG_041805.1:g.108212_108213dup, NG_041805.1:g.108211_108213dup, NG_041805.1:g.108210_108213dup, NG_041805.1:g.108209_108213dup, NG_041805.1:g.108208_108213dup, NG_041805.1:g.108207_108213dup, NG_041805.1:g.108206_108213dup, NG_041805.1:g.108205_108213dup, NG_041805.1:g.108204_108213dup, NG_041805.1:g.108203_108213dup, NG_041805.1:g.108202_108213dup, NG_041805.1:g.108201_108213dup, NG_041805.1:g.108200_108213dup, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108213_108214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.108198_108213A[49]TAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[32]GAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[29]GAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[27]CAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[26]GAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[24]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[23]GAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.108198_108213A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149151184713.

rs1491511847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:38867752 (GRCh38)
6:38835528 (GRCh37)
Canonical SPDI:: NC_000006.12:38867751:CA:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00438/52 (ALFA)
-=0.00028/8 (TOMMO)
HGVS:: NC_000006.12:g.38867752_38867753del, NC_000006.11:g.38835528_38835529del, NG_041805.1:g.157412_157413del

Select item 149149983714.

rs1491499837 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 6:38958647 (GRCh38)
6:38926424 (GRCh37)
Canonical SPDI:: NC_000006.12:38958647:A:AGA
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000006.12:g.38958648_38958649insGA, NC_000006.11:g.38926424_38926425insGA, NG_041805.1:g.248308_248309insGA

Select item 149149455215.

rs1491494552 has merged into rs34231573 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 6:38826415 (GRCh38)
6:38794191 (GRCh37)
Canonical SPDI:: NC_000006.12:38826407:TTTTTTTTT:TTTTTTT,NC_000006.12:38826407:TTTTTTTTT:TTTTTTTT,NC_000006.12:38826407:TTTTTTTTT:TTTTTTTTTT,NC_000006.12:38826407:TTTTTTTTT:TTTTTTTTTTT
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.00069/16 (ALFA)
T=0.00007/1 (TOMMO)
T=0.00273/5 (Korea1K)
T=0.14257/714 (1000Genomes)
T=0.21333/128 (NorthernSweden)
T=0.21432/826 (ALSPAC)
T=0.23004/853 (TWINSUK)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.38826415_38826416del, NC_000006.12:g.38826416del, NC_000006.12:g.38826416dup, NC_000006.12:g.38826415_38826416dup, NC_000006.11:g.38794191_38794192del, NC_000006.11:g.38794192del, NC_000006.11:g.38794192dup, NC_000006.11:g.38794191_38794192dup, NG_041805.1:g.116075_116076del, NG_041805.1:g.116076del, NG_041805.1:g.116076dup, NG_041805.1:g.116075_116076dup

Select item 149149266816.

rs1491492668 has merged into rs67293877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:38787706 (GRCh38)
6:38755482 (GRCh37)
Canonical SPDI:: NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:38787695:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3485/1343 (ALSPAC)
HGVS:: NC_000006.12:g.38787706_38787718del, NC_000006.12:g.38787707_38787718del, NC_000006.12:g.38787708_38787718del, NC_000006.12:g.38787711_38787718del, NC_000006.12:g.38787713_38787718del, NC_000006.12:g.38787714_38787718del, NC_000006.12:g.38787715_38787718del, NC_000006.12:g.38787716_38787718del, NC_000006.12:g.38787717_38787718del, NC_000006.12:g.38787718del, NC_000006.12:g.38787718dup, NC_000006.12:g.38787717_38787718dup, NC_000006.12:g.38787716_38787718dup, NC_000006.12:g.38787715_38787718dup, NC_000006.12:g.38787714_38787718dup, NC_000006.12:g.38787713_38787718dup, NC_000006.12:g.38787711_38787718dup, NC_000006.12:g.38787701_38787718dup, NC_000006.12:g.38787699_38787718dup, NC_000006.12:g.38787718_38787719insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38787718_38787719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.38787696_38787718A[37]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.38787696_38787718A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38755482_38755494del, NC_000006.11:g.38755483_38755494del, NC_000006.11:g.38755484_38755494del, NC_000006.11:g.38755487_38755494del, NC_000006.11:g.38755489_38755494del, NC_000006.11:g.38755490_38755494del, NC_000006.11:g.38755491_38755494del, NC_000006.11:g.38755492_38755494del, NC_000006.11:g.38755493_38755494del, NC_000006.11:g.38755494del, NC_000006.11:g.38755494dup, NC_000006.11:g.38755493_38755494dup, NC_000006.11:g.38755492_38755494dup, NC_000006.11:g.38755491_38755494dup, NC_000006.11:g.38755490_38755494dup, NC_000006.11:g.38755489_38755494dup, NC_000006.11:g.38755487_38755494dup, NC_000006.11:g.38755477_38755494dup, NC_000006.11:g.38755475_38755494dup, NC_000006.11:g.38755494_38755495insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38755494_38755495insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.38755472_38755494A[37]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.38755472_38755494A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.77366_77378del, NG_041805.1:g.77367_77378del, NG_041805.1:g.77368_77378del, NG_041805.1:g.77371_77378del, NG_041805.1:g.77373_77378del, NG_041805.1:g.77374_77378del, NG_041805.1:g.77375_77378del, NG_041805.1:g.77376_77378del, NG_041805.1:g.77377_77378del, NG_041805.1:g.77378del, NG_041805.1:g.77378dup, NG_041805.1:g.77377_77378dup, NG_041805.1:g.77376_77378dup, NG_041805.1:g.77375_77378dup, NG_041805.1:g.77374_77378dup, NG_041805.1:g.77373_77378dup, NG_041805.1:g.77371_77378dup, NG_041805.1:g.77361_77378dup, NG_041805.1:g.77359_77378dup, NG_041805.1:g.77378_77379insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.77378_77379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041805.1:g.77356_77378A[37]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041805.1:g.77356_77378A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149149130617.

rs1491491306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 6:38903613 (GRCh38)
6:38871390 (GRCh37)
Canonical SPDI:: NC_000006.12:38903613:TT:TTCTT
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00007/2 (TOMMO)
TTC=0.00015/6 (GnomAD)
HGVS:: NC_000006.12:g.38903615_38903616insCTT, NC_000006.11:g.38871391_38871392insCTT, NG_041805.1:g.193275_193276insCTT

Select item 149146898118.

rs1491468981 has merged into rs34058863 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTGTTTTTTTTGTGTGTGGTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:39008704 (GRCh38)
6:38976480 (GRCh37)
Canonical SPDI:: NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGTTTTTTTTGTGTGTGGTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:39008693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAH8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4858/2433 (1000Genomes)
HGVS:: NC_000006.12:g.39008704_39008707del, NC_000006.12:g.39008706_39008707del, NC_000006.12:g.39008707del, NC_000006.12:g.39008707dup, NC_000006.12:g.39008706_39008707dup, NC_000006.12:g.39008705_39008707dup, NC_000006.12:g.39008694_39008707T[17]GTTTTTTTTTTTTTTTGTTTTTTTTGTGTGTGGTTTTTTTTTTTTTT[1], NC_000006.12:g.39008704_39008707dup, NC_000006.12:g.39008703_39008707dup, NC_000006.12:g.39008702_39008707dup, NC_000006.12:g.39008698_39008707dup, NC_000006.12:g.39008697_39008707dup, NC_000006.12:g.39008707_39008708insTTTTTTTTTTTTTTT, NC_000006.12:g.39008707_39008708insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.39008707_39008708insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.39008707_39008708insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38976480_38976483del, NC_000006.11:g.38976482_38976483del, NC_000006.11:g.38976483del, NC_000006.11:g.38976483dup, NC_000006.11:g.38976482_38976483dup, NC_000006.11:g.38976481_38976483dup, NC_000006.11:g.38976470_38976483T[17]GTTTTTTTTTTTTTTTGTTTTTTTTGTGTGTGGTTTTTTTTTTTTTT[1], NC_000006.11:g.38976480_38976483dup, NC_000006.11:g.38976479_38976483dup, NC_000006.11:g.38976478_38976483dup, NC_000006.11:g.38976474_38976483dup, NC_000006.11:g.38976473_38976483dup, NC_000006.11:g.38976483_38976484insTTTTTTTTTTTTTTT, NC_000006.11:g.38976483_38976484insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38976483_38976484insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.38976483_38976484insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.298364_298367del, NG_041805.1:g.298366_298367del, NG_041805.1:g.298367del, NG_041805.1:g.298367dup, NG_041805.1:g.298366_298367dup, NG_041805.1:g.298365_298367dup, NG_041805.1:g.298354_298367T[17]GTTTTTTTTTTTTTTTGTTTTTTTTGTGTGTGGTTTTTTTTTTTTTT[1], NG_041805.1:g.298364_298367dup, NG_041805.1:g.298363_298367dup, NG_041805.1:g.298362_298367dup, NG_041805.1:g.298358_298367dup, NG_041805.1:g.298357_298367dup, NG_041805.1:g.298367_298368insTTTTTTTTTTTTTTT, NG_041805.1:g.298367_298368insTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.298367_298368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041805.1:g.298367_298368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149146568019.

rs1491465680 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAATTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149146245920.

rs1491462459 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:38830634 (GRCh38)
6:38798410 (GRCh37)
Canonical SPDI:: NC_000006.12:38830633:CA:
Gene:: DNAH8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.38830634_38830635del, NC_000006.11:g.38798410_38798411del, NG_041805.1:g.120294_120295del

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