Links from Gene
Items: 1 to 20 of 1000
1.
rs1491562719 has merged into rs1183326267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108679116
(GRCh38)
12:109072892
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108679109:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000012.12:g.108679116_108679129del, NC_000012.12:g.108679119_108679129del, NC_000012.12:g.108679120_108679129del, NC_000012.12:g.108679121_108679129del, NC_000012.12:g.108679122_108679129del, NC_000012.12:g.108679123_108679129del, NC_000012.12:g.108679128_108679129del, NC_000012.12:g.108679129del, NC_000012.12:g.108679129dup, NC_000012.12:g.108679128_108679129dup, NC_000012.12:g.108679127_108679129dup, NC_000012.12:g.108679126_108679129dup, NC_000012.12:g.108679125_108679129dup, NC_000012.12:g.108679124_108679129dup, NC_000012.12:g.108679123_108679129dup, NC_000012.12:g.108679122_108679129dup, NC_000012.12:g.108679121_108679129dup, NC_000012.12:g.108679120_108679129dup, NC_000012.12:g.108679119_108679129dup, NC_000012.12:g.108679118_108679129dup, NC_000012.12:g.108679117_108679129dup, NC_000012.12:g.108679116_108679129dup, NC_000012.12:g.108679115_108679129dup, NC_000012.12:g.108679114_108679129dup, NC_000012.12:g.108679113_108679129dup, NC_000012.12:g.108679112_108679129dup, NC_000012.12:g.108679111_108679129dup, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679129_108679130insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108679110_108679129A[52]TAAAAAAA[2]A[17], NC_000012.12:g.108679110_108679129A[24]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.12:g.108679110_108679129A[23]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.109072892_109072905del, NC_000012.11:g.109072895_109072905del, NC_000012.11:g.109072896_109072905del, NC_000012.11:g.109072897_109072905del, NC_000012.11:g.109072898_109072905del, NC_000012.11:g.109072899_109072905del, NC_000012.11:g.109072904_109072905del, NC_000012.11:g.109072905del, NC_000012.11:g.109072905dup, NC_000012.11:g.109072904_109072905dup, NC_000012.11:g.109072903_109072905dup, NC_000012.11:g.109072902_109072905dup, NC_000012.11:g.109072901_109072905dup, NC_000012.11:g.109072900_109072905dup, NC_000012.11:g.109072899_109072905dup, NC_000012.11:g.109072898_109072905dup, NC_000012.11:g.109072897_109072905dup, NC_000012.11:g.109072896_109072905dup, NC_000012.11:g.109072895_109072905dup, NC_000012.11:g.109072894_109072905dup, NC_000012.11:g.109072893_109072905dup, NC_000012.11:g.109072892_109072905dup, NC_000012.11:g.109072891_109072905dup, NC_000012.11:g.109072890_109072905dup, NC_000012.11:g.109072889_109072905dup, NC_000012.11:g.109072888_109072905dup, NC_000012.11:g.109072887_109072905dup, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072905_109072906insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109072886_109072905A[52]TAAAAAAA[2]A[17], NC_000012.11:g.109072886_109072905A[24]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.109072886_109072905A[23]CAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491507753 has merged into rs139334112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108660459
(GRCh38)
12:109054235
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108660451:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
AA=0.2358/1181
(1000Genomes)
- HGVS:
NC_000012.12:g.108660459_108660473del, NC_000012.12:g.108660460_108660473del, NC_000012.12:g.108660461_108660473del, NC_000012.12:g.108660462_108660473del, NC_000012.12:g.108660463_108660473del, NC_000012.12:g.108660464_108660473del, NC_000012.12:g.108660466_108660473del, NC_000012.12:g.108660467_108660473del, NC_000012.12:g.108660468_108660473del, NC_000012.12:g.108660469_108660473del, NC_000012.12:g.108660470_108660473del, NC_000012.12:g.108660471_108660473del, NC_000012.12:g.108660472_108660473del, NC_000012.12:g.108660473del, NC_000012.12:g.108660473dup, NC_000012.12:g.108660472_108660473dup, NC_000012.12:g.108660471_108660473dup, NC_000012.12:g.108660470_108660473dup, NC_000012.12:g.108660469_108660473dup, NC_000012.12:g.108660468_108660473dup, NC_000012.12:g.108660466_108660473dup, NC_000012.12:g.108660473_108660474insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109054235_109054249del, NC_000012.11:g.109054236_109054249del, NC_000012.11:g.109054237_109054249del, NC_000012.11:g.109054238_109054249del, NC_000012.11:g.109054239_109054249del, NC_000012.11:g.109054240_109054249del, NC_000012.11:g.109054242_109054249del, NC_000012.11:g.109054243_109054249del, NC_000012.11:g.109054244_109054249del, NC_000012.11:g.109054245_109054249del, NC_000012.11:g.109054246_109054249del, NC_000012.11:g.109054247_109054249del, NC_000012.11:g.109054248_109054249del, NC_000012.11:g.109054249del, NC_000012.11:g.109054249dup, NC_000012.11:g.109054248_109054249dup, NC_000012.11:g.109054247_109054249dup, NC_000012.11:g.109054246_109054249dup, NC_000012.11:g.109054245_109054249dup, NC_000012.11:g.109054244_109054249dup, NC_000012.11:g.109054242_109054249dup, NC_000012.11:g.109054249_109054250insAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491494615 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:108660451
(GRCh38)
12:109054227
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108660450:CA:
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00169/20
(
ALFA)
-=0.00307/51
(TOMMO)
- HGVS:
6.
rs1491404383 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 12:108705459
(GRCh38)
12:109099236
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108705459::CAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAA=0./0
(
ALFA)
CAA=0.00015/9
(GnomAD)
- HGVS:
7.
rs1491332438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:108695876
(GRCh38)
12:109089652
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108695874:ACA:A
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000061/1
(
ALFA)
-=0.000036/5
(GnomAD)
- HGVS:
9.
rs1491308153 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:108695850
(GRCh38)
12:109089626
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108695849:CT:
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00011/3
(TOMMO)
- HGVS:
10.
rs1491301121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G,GG,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 12:108669690
(GRCh38)
12:109063467
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108669690:GG:GGG,NC_000012.12:108669690:GG:GGGG,NC_000012.12:108669690:GG:GGGGG,NC_000012.12:108669690:GG:GGGGGG,NC_000012.12:108669690:GG:GGGGGGG,NC_000012.12:108669690:GG:GGGGGGGG
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
G=0.00021/6
(TOMMO)
- HGVS:
NC_000012.12:g.108669692dup, NC_000012.12:g.108669691_108669692dup, NC_000012.12:g.108669692_108669693insGGG, NC_000012.12:g.108669692_108669693insGGGG, NC_000012.12:g.108669692_108669693insGGGGG, NC_000012.12:g.108669692_108669693insGGGGGG, NC_000012.11:g.109063468dup, NC_000012.11:g.109063467_109063468dup, NC_000012.11:g.109063468_109063469insGGG, NC_000012.11:g.109063468_109063469insGGGG, NC_000012.11:g.109063468_109063469insGGGGG, NC_000012.11:g.109063468_109063469insGGGGGG
11.
rs1491266577 has merged into rs138128974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108712579
(GRCh38)
12:109106355
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712570:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.108712579_108712592del, NC_000012.12:g.108712580_108712592del, NC_000012.12:g.108712581_108712592del, NC_000012.12:g.108712582_108712592del, NC_000012.12:g.108712583_108712592del, NC_000012.12:g.108712584_108712592del, NC_000012.12:g.108712585_108712592del, NC_000012.12:g.108712586_108712592del, NC_000012.12:g.108712588_108712592del, NC_000012.12:g.108712589_108712592del, NC_000012.12:g.108712590_108712592del, NC_000012.12:g.108712591_108712592del, NC_000012.12:g.108712592del, NC_000012.12:g.108712592dup, NC_000012.12:g.108712591_108712592dup, NC_000012.12:g.108712590_108712592dup, NC_000012.12:g.108712589_108712592dup, NC_000012.12:g.108712587_108712592dup, NC_000012.12:g.108712586_108712592dup, NC_000012.11:g.109106355_109106368del, NC_000012.11:g.109106356_109106368del, NC_000012.11:g.109106357_109106368del, NC_000012.11:g.109106358_109106368del, NC_000012.11:g.109106359_109106368del, NC_000012.11:g.109106360_109106368del, NC_000012.11:g.109106361_109106368del, NC_000012.11:g.109106362_109106368del, NC_000012.11:g.109106364_109106368del, NC_000012.11:g.109106365_109106368del, NC_000012.11:g.109106366_109106368del, NC_000012.11:g.109106367_109106368del, NC_000012.11:g.109106368del, NC_000012.11:g.109106368dup, NC_000012.11:g.109106367_109106368dup, NC_000012.11:g.109106366_109106368dup, NC_000012.11:g.109106365_109106368dup, NC_000012.11:g.109106363_109106368dup, NC_000012.11:g.109106362_109106368dup
12.
rs1491265047 has merged into rs60647143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108694289
(GRCh38)
12:109088065
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108694279:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000012.12:g.108694289_108694304del, NC_000012.12:g.108694291_108694304del, NC_000012.12:g.108694292_108694304del, NC_000012.12:g.108694293_108694304del, NC_000012.12:g.108694294_108694304del, NC_000012.12:g.108694295_108694304del, NC_000012.12:g.108694297_108694304del, NC_000012.12:g.108694299_108694304del, NC_000012.12:g.108694300_108694304del, NC_000012.12:g.108694301_108694304del, NC_000012.12:g.108694302_108694304del, NC_000012.12:g.108694303_108694304del, NC_000012.12:g.108694304del, NC_000012.12:g.108694304dup, NC_000012.12:g.108694303_108694304dup, NC_000012.12:g.108694302_108694304dup, NC_000012.12:g.108694301_108694304dup, NC_000012.12:g.108694300_108694304dup, NC_000012.12:g.108694299_108694304dup, NC_000012.12:g.108694298_108694304dup, NC_000012.12:g.108694297_108694304dup, NC_000012.12:g.108694296_108694304dup, NC_000012.12:g.108694294_108694304dup, NC_000012.12:g.108694293_108694304dup, NC_000012.12:g.108694291_108694304dup, NC_000012.12:g.108694290_108694304dup, NC_000012.12:g.108694289_108694304dup, NC_000012.12:g.108694288_108694304dup, NC_000012.12:g.108694304_108694305insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.108694304_108694305insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109088065_109088080del, NC_000012.11:g.109088067_109088080del, NC_000012.11:g.109088068_109088080del, NC_000012.11:g.109088069_109088080del, NC_000012.11:g.109088070_109088080del, NC_000012.11:g.109088071_109088080del, NC_000012.11:g.109088073_109088080del, NC_000012.11:g.109088075_109088080del, NC_000012.11:g.109088076_109088080del, NC_000012.11:g.109088077_109088080del, NC_000012.11:g.109088078_109088080del, NC_000012.11:g.109088079_109088080del, NC_000012.11:g.109088080del, NC_000012.11:g.109088080dup, NC_000012.11:g.109088079_109088080dup, NC_000012.11:g.109088078_109088080dup, NC_000012.11:g.109088077_109088080dup, NC_000012.11:g.109088076_109088080dup, NC_000012.11:g.109088075_109088080dup, NC_000012.11:g.109088074_109088080dup, NC_000012.11:g.109088073_109088080dup, NC_000012.11:g.109088072_109088080dup, NC_000012.11:g.109088070_109088080dup, NC_000012.11:g.109088069_109088080dup, NC_000012.11:g.109088067_109088080dup, NC_000012.11:g.109088066_109088080dup, NC_000012.11:g.109088065_109088080dup, NC_000012.11:g.109088064_109088080dup, NC_000012.11:g.109088080_109088081insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.109088080_109088081insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491235000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:108706205
(GRCh38)
12:109099981
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108706203:ACA:A
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000072/10
(GnomAD)
- HGVS:
14.
rs1491215635 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:108694279
(GRCh38)
12:109088055
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108694278:CA:
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00244/29
(
ALFA)
-=0.00028/13
(GnomAD)
-=0.00353/96
(TOMMO)
- HGVS:
15.
rs1491184981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGCACACACAC
[Show Flanks]
- Chromosome:
- 12:108661835
(GRCh38)
12:109055612
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108661835:CACACACACGTGCACACACAC:CACACACACGTGCACACACACGTGCACACACAC
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACGTGCACACACACGTGCACACACAC=0./0
(
ALFA)
CACACACACGTG=0.000007/1
(GnomAD)
CACACACACGTG=0.000008/2
(TOPMED)
- HGVS:
16.
rs1491171114 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,T
[Show Flanks]
- Chromosome:
- 12:108679110
(GRCh38)
12:109072887
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108679110::C,NC_000012.12:108679110::T
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
17.
rs1491165719 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 12:108653074
(GRCh38)
12:109046850
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108653071:GAGA:GA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1491107565 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:108712570
(GRCh38)
12:109106346
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108712569:CA:
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00059/7
(
ALFA)
-=0.00221/62
(TOMMO)
- HGVS:
19.
rs1491066505 has merged into rs142742201 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108712923
(GRCh38)
12:109106699
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108712913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.108712923_108712934del, NC_000012.12:g.108712924_108712934del, NC_000012.12:g.108712926_108712934del, NC_000012.12:g.108712927_108712934del, NC_000012.12:g.108712928_108712934del, NC_000012.12:g.108712929_108712934del, NC_000012.12:g.108712930_108712934del, NC_000012.12:g.108712931_108712934del, NC_000012.12:g.108712932_108712934del, NC_000012.12:g.108712933_108712934del, NC_000012.12:g.108712934del, NC_000012.12:g.108712934dup, NC_000012.12:g.108712933_108712934dup, NC_000012.12:g.108712932_108712934dup, NC_000012.12:g.108712931_108712934dup, NC_000012.12:g.108712930_108712934dup, NC_000012.12:g.108712929_108712934dup, NC_000012.12:g.108712928_108712934dup, NC_000012.12:g.108712927_108712934dup, NC_000012.12:g.108712926_108712934dup, NC_000012.11:g.109106699_109106710del, NC_000012.11:g.109106700_109106710del, NC_000012.11:g.109106702_109106710del, NC_000012.11:g.109106703_109106710del, NC_000012.11:g.109106704_109106710del, NC_000012.11:g.109106705_109106710del, NC_000012.11:g.109106706_109106710del, NC_000012.11:g.109106707_109106710del, NC_000012.11:g.109106708_109106710del, NC_000012.11:g.109106709_109106710del, NC_000012.11:g.109106710del, NC_000012.11:g.109106710dup, NC_000012.11:g.109106709_109106710dup, NC_000012.11:g.109106708_109106710dup, NC_000012.11:g.109106707_109106710dup, NC_000012.11:g.109106706_109106710dup, NC_000012.11:g.109106705_109106710dup, NC_000012.11:g.109106704_109106710dup, NC_000012.11:g.109106703_109106710dup, NC_000012.11:g.109106702_109106710dup
20.
rs1491040685 has merged into rs34182326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:108714408
(GRCh38)
12:109108184
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:108714397:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CORO1C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.4906/2457
(1000Genomes)
- HGVS:
NC_000012.12:g.108714408_108714415del, NC_000012.12:g.108714410_108714415del, NC_000012.12:g.108714412_108714415del, NC_000012.12:g.108714413_108714415del, NC_000012.12:g.108714414_108714415del, NC_000012.12:g.108714415del, NC_000012.12:g.108714415dup, NC_000012.12:g.108714414_108714415dup, NC_000012.12:g.108714413_108714415dup, NC_000012.12:g.108714412_108714415dup, NC_000012.11:g.109108184_109108191del, NC_000012.11:g.109108186_109108191del, NC_000012.11:g.109108188_109108191del, NC_000012.11:g.109108189_109108191del, NC_000012.11:g.109108190_109108191del, NC_000012.11:g.109108191del, NC_000012.11:g.109108191dup, NC_000012.11:g.109108190_109108191dup, NC_000012.11:g.109108189_109108191dup, NC_000012.11:g.109108188_109108191dup