Links from Gene
Items: 1 to 20 of 1000
1.
rs1491579227 has merged into rs57871721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG
[Show Flanks]
- Chromosome:
- 1:93749161
(GRCh38)
1:94214717
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93749147:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000001.11:93749147:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:93749147:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000001.11:93749147:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:93749147:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTG=0./0
(
ALFA)
GT=0.05/2
(GENOME_DK)
GT=0.13026/130
(GoNL)
GT=0.15402/690
(Estonian)
GT=0.15667/94
(NorthernSweden)
GT=0.25759/1290
(1000Genomes)
- HGVS:
2.
rs1491557042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:93809774
(GRCh38)
1:94275331
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93809774:T:TT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491553303 has merged into rs67196746 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTTTATTTTTTTTTTTTTTT,TTTTTATTTTTTTTTTTTTTTT,TTTTTT,TTTTTTATTTTTTTTTTTTT,TTTTTTATTTTTTTTTTTTTTT,TTTTTTATTTTTTTTTTTTTTTT,TTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTATTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:93790645
(GRCh38)
1:94256201
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTATTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTATTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93790634:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000001.11:g.93790645_93790646del, NC_000001.11:g.93790646del, NC_000001.11:g.93790646dup, NC_000001.11:g.93790635_93790646T[15]ATTTTTTTTTTTTTTT[1], NC_000001.11:g.93790635_93790646T[15]ATTTTTTTTTTTTTTTT[1], NC_000001.11:g.93790643_93790646dup, NC_000001.11:g.93790635_93790646T[16]ATTTTTTTTTTTTT[1], NC_000001.11:g.93790635_93790646T[16]ATTTTTTTTTTTTTTT[1], NC_000001.11:g.93790635_93790646T[16]ATTTTTTTTTTTTTTTT[1], NC_000001.11:g.93790635_93790646T[16]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.93790642_93790646dup, NC_000001.11:g.93790635_93790646T[17]GTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.93790641_93790646dup, NC_000001.11:g.93790635_93790646T[18]ATTTTTTTTTTTTT[1], NC_000001.11:g.93790646_93790647insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93790646_93790647insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93790646_93790647insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94256201_94256202del, NC_000001.10:g.94256202del, NC_000001.10:g.94256202dup, NC_000001.10:g.94256191_94256202T[15]ATTTTTTTTTTTTTTT[1], NC_000001.10:g.94256191_94256202T[15]ATTTTTTTTTTTTTTTT[1], NC_000001.10:g.94256199_94256202dup, NC_000001.10:g.94256191_94256202T[16]ATTTTTTTTTTTTT[1], NC_000001.10:g.94256191_94256202T[16]ATTTTTTTTTTTTTTT[1], NC_000001.10:g.94256191_94256202T[16]ATTTTTTTTTTTTTTTT[1], NC_000001.10:g.94256191_94256202T[16]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.94256198_94256202dup, NC_000001.10:g.94256191_94256202T[17]GTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.94256197_94256202dup, NC_000001.10:g.94256191_94256202T[18]ATTTTTTTTTTTTT[1], NC_000001.10:g.94256202_94256203insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94256202_94256203insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94256202_94256203insTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491527589 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:93562768
(GRCh38)
1:94028325
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93562767:CA:
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0118/140
(
ALFA)
-=0.00404/113
(TOMMO)
- HGVS:
5.
rs1491447594 has merged into rs1553172483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTAAATTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:93790663
(GRCh38)
1:94256219
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93790651:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTAAATTTTTTTTTTTTTTT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0107/6
(NorthernSweden)
- HGVS:
NC_000001.11:g.93790663_93790664del, NC_000001.11:g.93790664del, NC_000001.11:g.93790664dup, NC_000001.11:g.93790663_93790664dup, NC_000001.11:g.93790662_93790664dup, NC_000001.11:g.93790653_93790664dup, NC_000001.11:g.93790652_93790664T[25]AAATTTTTTTTTTTTTTT[1], NC_000001.10:g.94256219_94256220del, NC_000001.10:g.94256220del, NC_000001.10:g.94256220dup, NC_000001.10:g.94256219_94256220dup, NC_000001.10:g.94256218_94256220dup, NC_000001.10:g.94256209_94256220dup, NC_000001.10:g.94256208_94256220T[25]AAATTTTTTTTTTTTTTT[1]
8.
rs1491378065 has merged into rs59798936 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:93769371
(GRCh38)
1:94234927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:93769355:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.93769357GT[7], NC_000001.11:g.93769357GT[8], NC_000001.11:g.93769357GT[10], NC_000001.11:g.93769357GT[11], NC_000001.11:g.93769357GT[12], NC_000001.11:g.93769357GT[13], NC_000001.11:g.93769357GT[14], NC_000001.11:g.93769357GT[15], NC_000001.11:g.93769357GT[16], NC_000001.11:g.93769357GT[17], NC_000001.11:g.93769357GT[18], NC_000001.11:g.93769357GT[19], NC_000001.11:g.93769357GT[20], NC_000001.11:g.93769357GT[21], NC_000001.11:g.93769357GT[22], NC_000001.11:g.93769357GT[23], NC_000001.11:g.93769357GT[24], NC_000001.11:g.93769357GT[25], NC_000001.11:g.93769357GT[27], NC_000001.11:g.93769357GT[28], NC_000001.11:g.93769357GT[29], NC_000001.11:g.93769357GT[30], NC_000001.11:g.93769357GT[31], NC_000001.11:g.93769357GT[32], NC_000001.11:g.93769357GT[33], NC_000001.11:g.93769357GT[34], NC_000001.11:g.93769357GT[35], NC_000001.11:g.93769357GT[36], NC_000001.11:g.93769357GT[37], NC_000001.11:g.93769357GT[38], NC_000001.11:g.93769357GT[39], NC_000001.10:g.94234913GT[7], NC_000001.10:g.94234913GT[8], NC_000001.10:g.94234913GT[10], NC_000001.10:g.94234913GT[11], NC_000001.10:g.94234913GT[12], NC_000001.10:g.94234913GT[13], NC_000001.10:g.94234913GT[14], NC_000001.10:g.94234913GT[15], NC_000001.10:g.94234913GT[16], NC_000001.10:g.94234913GT[17], NC_000001.10:g.94234913GT[18], NC_000001.10:g.94234913GT[19], NC_000001.10:g.94234913GT[20], NC_000001.10:g.94234913GT[21], NC_000001.10:g.94234913GT[22], NC_000001.10:g.94234913GT[23], NC_000001.10:g.94234913GT[24], NC_000001.10:g.94234913GT[25], NC_000001.10:g.94234913GT[27], NC_000001.10:g.94234913GT[28], NC_000001.10:g.94234913GT[29], NC_000001.10:g.94234913GT[30], NC_000001.10:g.94234913GT[31], NC_000001.10:g.94234913GT[32], NC_000001.10:g.94234913GT[33], NC_000001.10:g.94234913GT[34], NC_000001.10:g.94234913GT[35], NC_000001.10:g.94234913GT[36], NC_000001.10:g.94234913GT[37], NC_000001.10:g.94234913GT[38], NC_000001.10:g.94234913GT[39]
9.
rs1491376457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:93809775
(GRCh38)
1:94275331
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93809773:ATA:A
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.01824/293
(
ALFA)
-=0.0005/8
(TOMMO)
-=0.03448/62
(Korea1K)
-=0.07452/3220
(GnomAD)
- HGVS:
10.
rs1491351406 has merged into rs71588503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:93634726
(GRCh38)
1:94100282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93634720:AAAAAAAAAA:AAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:93634720:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.073652/19495
(TOPMED)
- HGVS:
NC_000001.11:g.93634726_93634730del, NC_000001.11:g.93634727_93634730del, NC_000001.11:g.93634729_93634730del, NC_000001.11:g.93634730del, NC_000001.11:g.93634730dup, NC_000001.11:g.93634729_93634730dup, NC_000001.11:g.93634728_93634730dup, NC_000001.11:g.93634727_93634730dup, NC_000001.11:g.93634725_93634730dup, NC_000001.11:g.93634722_93634730dup, NC_000001.10:g.94100282_94100286del, NC_000001.10:g.94100283_94100286del, NC_000001.10:g.94100285_94100286del, NC_000001.10:g.94100286del, NC_000001.10:g.94100286dup, NC_000001.10:g.94100285_94100286dup, NC_000001.10:g.94100284_94100286dup, NC_000001.10:g.94100283_94100286dup, NC_000001.10:g.94100281_94100286dup, NC_000001.10:g.94100278_94100286dup
11.
rs1491291262 has merged into rs111366450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:93634720
(GRCh38)
1:94100276
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93634718:ACA:A
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.036166/429
(
ALFA)
-=0.02226/13
(NorthernSweden)
-=0.050735/5657
(GnomAD)
-=0.093042/345
(TWINSUK)
-=0.115551/1931
(TOMMO)
-=0.122989/474
(ALSPAC)
- HGVS:
12.
rs1491242986 has merged into rs60051218 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:93816680
(GRCh38)
1:94282236
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.93816680_93816695del, NC_000001.11:g.93816681_93816695del, NC_000001.11:g.93816682_93816695del, NC_000001.11:g.93816683_93816695del, NC_000001.11:g.93816685_93816695del, NC_000001.11:g.93816686_93816695del, NC_000001.11:g.93816687_93816695del, NC_000001.11:g.93816688_93816695del, NC_000001.11:g.93816689_93816695del, NC_000001.11:g.93816690_93816695del, NC_000001.11:g.93816691_93816695del, NC_000001.11:g.93816692_93816695del, NC_000001.11:g.93816693_93816695del, NC_000001.11:g.93816694_93816695del, NC_000001.11:g.93816695del, NC_000001.11:g.93816695dup, NC_000001.11:g.93816694_93816695dup, NC_000001.11:g.93816693_93816695dup, NC_000001.11:g.93816692_93816695dup, NC_000001.11:g.93816691_93816695dup, NC_000001.11:g.93816690_93816695dup, NC_000001.11:g.93816689_93816695dup, NC_000001.11:g.93816688_93816695dup, NC_000001.11:g.93816687_93816695dup, NC_000001.11:g.93816695_93816696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.94282236_94282251del, NC_000001.10:g.94282237_94282251del, NC_000001.10:g.94282238_94282251del, NC_000001.10:g.94282239_94282251del, NC_000001.10:g.94282241_94282251del, NC_000001.10:g.94282242_94282251del, NC_000001.10:g.94282243_94282251del, NC_000001.10:g.94282244_94282251del, NC_000001.10:g.94282245_94282251del, NC_000001.10:g.94282246_94282251del, NC_000001.10:g.94282247_94282251del, NC_000001.10:g.94282248_94282251del, NC_000001.10:g.94282249_94282251del, NC_000001.10:g.94282250_94282251del, NC_000001.10:g.94282251del, NC_000001.10:g.94282251dup, NC_000001.10:g.94282250_94282251dup, NC_000001.10:g.94282249_94282251dup, NC_000001.10:g.94282248_94282251dup, NC_000001.10:g.94282247_94282251dup, NC_000001.10:g.94282246_94282251dup, NC_000001.10:g.94282245_94282251dup, NC_000001.10:g.94282244_94282251dup, NC_000001.10:g.94282243_94282251dup, NC_000001.10:g.94282251_94282252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491213967 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTG
[Show Flanks]
- Chromosome:
- 1:93769356
(GRCh38)
1:94234913
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93769356:GTG:GTGCGTG
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGCGTG=0.00017/2
(
ALFA)
GTGC=0.0023/29
(GnomAD)
- HGVS:
14.
rs1491210257 has merged into rs1217381018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:93719345
(GRCh38)
1:94184901
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93719334:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.93719345_93719359del, NC_000001.11:g.93719346_93719359del, NC_000001.11:g.93719347_93719359del, NC_000001.11:g.93719348_93719359del, NC_000001.11:g.93719349_93719359del, NC_000001.11:g.93719350_93719359del, NC_000001.11:g.93719351_93719359del, NC_000001.11:g.93719352_93719359del, NC_000001.11:g.93719353_93719359del, NC_000001.11:g.93719354_93719359del, NC_000001.11:g.93719355_93719359del, NC_000001.11:g.93719356_93719359del, NC_000001.11:g.93719357_93719359del, NC_000001.11:g.93719358_93719359del, NC_000001.11:g.93719359del, NC_000001.11:g.93719359dup, NC_000001.11:g.93719358_93719359dup, NC_000001.11:g.93719357_93719359dup, NC_000001.11:g.93719356_93719359dup, NC_000001.11:g.93719355_93719359dup, NC_000001.11:g.93719354_93719359dup, NC_000001.11:g.93719353_93719359dup, NC_000001.11:g.93719352_93719359dup, NC_000001.11:g.93719351_93719359dup, NC_000001.11:g.93719350_93719359dup, NC_000001.11:g.93719349_93719359dup, NC_000001.11:g.93719348_93719359dup, NC_000001.11:g.93719347_93719359dup, NC_000001.11:g.93719344_93719359dup, NC_000001.11:g.93719359_93719360insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93719359_93719360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93719359_93719360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93719359_93719360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94184901_94184915del, NC_000001.10:g.94184902_94184915del, NC_000001.10:g.94184903_94184915del, NC_000001.10:g.94184904_94184915del, NC_000001.10:g.94184905_94184915del, NC_000001.10:g.94184906_94184915del, NC_000001.10:g.94184907_94184915del, NC_000001.10:g.94184908_94184915del, NC_000001.10:g.94184909_94184915del, NC_000001.10:g.94184910_94184915del, NC_000001.10:g.94184911_94184915del, NC_000001.10:g.94184912_94184915del, NC_000001.10:g.94184913_94184915del, NC_000001.10:g.94184914_94184915del, NC_000001.10:g.94184915del, NC_000001.10:g.94184915dup, NC_000001.10:g.94184914_94184915dup, NC_000001.10:g.94184913_94184915dup, NC_000001.10:g.94184912_94184915dup, NC_000001.10:g.94184911_94184915dup, NC_000001.10:g.94184910_94184915dup, NC_000001.10:g.94184909_94184915dup, NC_000001.10:g.94184908_94184915dup, NC_000001.10:g.94184907_94184915dup, NC_000001.10:g.94184906_94184915dup, NC_000001.10:g.94184905_94184915dup, NC_000001.10:g.94184904_94184915dup, NC_000001.10:g.94184903_94184915dup, NC_000001.10:g.94184900_94184915dup, NC_000001.10:g.94184915_94184916insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94184915_94184916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94184915_94184916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.94184915_94184916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
15.
rs1491189357 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 1:93634721
(GRCh38)
1:94100278
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93634721:A:ACA
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.00002/2
(GnomAD)
- HGVS:
16.
rs1491142163 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:93768269
(GRCh38)
1:94233825
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93768267:TTT:T
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000019/2
(GnomAD)
- HGVS:
17.
rs1491135048 has merged into rs3068798 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:93842161
(GRCh38)
1:94307717
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:93842148:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3399/1702
(1000Genomes)
- HGVS:
NC_000001.11:g.93842161_93842163del, NC_000001.11:g.93842162_93842163del, NC_000001.11:g.93842163del, NC_000001.11:g.93842163dup, NC_000001.11:g.93842162_93842163dup, NC_000001.11:g.93842161_93842163dup, NC_000001.11:g.93842160_93842163dup, NC_000001.11:g.93842159_93842163dup, NC_000001.11:g.93842151_93842163dup, NC_000001.10:g.94307717_94307719del, NC_000001.10:g.94307718_94307719del, NC_000001.10:g.94307719del, NC_000001.10:g.94307719dup, NC_000001.10:g.94307718_94307719dup, NC_000001.10:g.94307717_94307719dup, NC_000001.10:g.94307716_94307719dup, NC_000001.10:g.94307715_94307719dup, NC_000001.10:g.94307707_94307719dup
18.
rs1491125259 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:93768268
(GRCh38)
1:94233825
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93768268::G
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000304/32
(GnomAD)
- HGVS:
19.
rs1491124088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 1:93790635
(GRCh38)
1:94256192
(GRCh37)
- Canonical SPDI:
- NC_000001.11:93790635:T:TCT
- Gene:
- BCAR3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.00027/11
(GnomAD)
TC=0.00285/5
(Korea1K)
- HGVS: