Links from Gene
Items: 1 to 20 of 1000
2.
rs1491486790 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:44492914
(GRCh38)
15:44785112
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44492913:AT:
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000114/16
(GnomAD)
-=0.000121/32
(TOPMED)
- HGVS:
3.
rs1491463651 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:44461596
(GRCh38)
15:44753795
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44461596::A
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491446352 has merged into rs35160726 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:44444848
(GRCh38)
15:44737046
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44444836:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.44444848_44444866del, NC_000015.10:g.44444849_44444866del, NC_000015.10:g.44444850_44444866del, NC_000015.10:g.44444851_44444866del, NC_000015.10:g.44444852_44444866del, NC_000015.10:g.44444853_44444866del, NC_000015.10:g.44444854_44444866del, NC_000015.10:g.44444855_44444866del, NC_000015.10:g.44444856_44444866del, NC_000015.10:g.44444857_44444866del, NC_000015.10:g.44444858_44444866del, NC_000015.10:g.44444859_44444866del, NC_000015.10:g.44444860_44444866del, NC_000015.10:g.44444861_44444866del, NC_000015.10:g.44444862_44444866del, NC_000015.10:g.44444863_44444866del, NC_000015.10:g.44444864_44444866del, NC_000015.10:g.44444865_44444866del, NC_000015.10:g.44444866del, NC_000015.10:g.44444866dup, NC_000015.10:g.44444865_44444866dup, NC_000015.10:g.44444864_44444866dup, NC_000015.10:g.44444863_44444866dup, NC_000015.10:g.44444862_44444866dup, NC_000015.10:g.44444861_44444866dup, NC_000015.10:g.44444860_44444866dup, NC_000015.10:g.44444859_44444866dup, NC_000015.10:g.44444858_44444866dup, NC_000015.10:g.44444855_44444866dup, NC_000015.10:g.44444854_44444866dup, NC_000015.10:g.44444853_44444866dup, NC_000015.10:g.44444852_44444866dup, NC_000015.10:g.44444851_44444866dup, NC_000015.9:g.44737046_44737064del, NC_000015.9:g.44737047_44737064del, NC_000015.9:g.44737048_44737064del, NC_000015.9:g.44737049_44737064del, NC_000015.9:g.44737050_44737064del, NC_000015.9:g.44737051_44737064del, NC_000015.9:g.44737052_44737064del, NC_000015.9:g.44737053_44737064del, NC_000015.9:g.44737054_44737064del, NC_000015.9:g.44737055_44737064del, NC_000015.9:g.44737056_44737064del, NC_000015.9:g.44737057_44737064del, NC_000015.9:g.44737058_44737064del, NC_000015.9:g.44737059_44737064del, NC_000015.9:g.44737060_44737064del, NC_000015.9:g.44737061_44737064del, NC_000015.9:g.44737062_44737064del, NC_000015.9:g.44737063_44737064del, NC_000015.9:g.44737064del, NC_000015.9:g.44737064dup, NC_000015.9:g.44737063_44737064dup, NC_000015.9:g.44737062_44737064dup, NC_000015.9:g.44737061_44737064dup, NC_000015.9:g.44737060_44737064dup, NC_000015.9:g.44737059_44737064dup, NC_000015.9:g.44737058_44737064dup, NC_000015.9:g.44737057_44737064dup, NC_000015.9:g.44737056_44737064dup, NC_000015.9:g.44737053_44737064dup, NC_000015.9:g.44737052_44737064dup, NC_000015.9:g.44737051_44737064dup, NC_000015.9:g.44737050_44737064dup, NC_000015.9:g.44737049_44737064dup
7.
rs1491414588 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 15:44439543
(GRCh38)
15:44731742
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44439543::TG
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TG=0./0
(
ALFA)
TG=0.00003/4
(GnomAD)
- HGVS:
8.
rs1491403513 has merged into rs886463524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:44470113
(GRCh38)
15:44762311
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44470097:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.44470113_44470121del, NC_000015.10:g.44470114_44470121del, NC_000015.10:g.44470115_44470121del, NC_000015.10:g.44470116_44470121del, NC_000015.10:g.44470117_44470121del, NC_000015.10:g.44470118_44470121del, NC_000015.10:g.44470119_44470121del, NC_000015.10:g.44470120_44470121del, NC_000015.10:g.44470121del, NC_000015.10:g.44470121dup, NC_000015.10:g.44470120_44470121dup, NC_000015.10:g.44470119_44470121dup, NC_000015.10:g.44470118_44470121dup, NC_000015.10:g.44470117_44470121dup, NC_000015.9:g.44762311_44762319del, NC_000015.9:g.44762312_44762319del, NC_000015.9:g.44762313_44762319del, NC_000015.9:g.44762314_44762319del, NC_000015.9:g.44762315_44762319del, NC_000015.9:g.44762316_44762319del, NC_000015.9:g.44762317_44762319del, NC_000015.9:g.44762318_44762319del, NC_000015.9:g.44762319del, NC_000015.9:g.44762319dup, NC_000015.9:g.44762318_44762319dup, NC_000015.9:g.44762317_44762319dup, NC_000015.9:g.44762316_44762319dup, NC_000015.9:g.44762315_44762319dup
9.
rs1491391834 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:44426583
(GRCh38)
15:44718781
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44426582:GA:
- Gene:
- CTDSPL2 (Varview), LOC124903479 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00236/28
(
ALFA)
-=0.002561/340
(GnomAD)
- HGVS:
10.
rs1491390715 has merged into rs35307134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:44455851
(GRCh38)
15:44748049
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.44455851_44455869del, NC_000015.10:g.44455852_44455869del, NC_000015.10:g.44455853_44455869del, NC_000015.10:g.44455854_44455869del, NC_000015.10:g.44455855_44455869del, NC_000015.10:g.44455856_44455869del, NC_000015.10:g.44455857_44455869del, NC_000015.10:g.44455858_44455869del, NC_000015.10:g.44455859_44455869del, NC_000015.10:g.44455860_44455869del, NC_000015.10:g.44455861_44455869del, NC_000015.10:g.44455862_44455869del, NC_000015.10:g.44455863_44455869del, NC_000015.10:g.44455864_44455869del, NC_000015.10:g.44455865_44455869del, NC_000015.10:g.44455866_44455869del, NC_000015.10:g.44455867_44455869del, NC_000015.10:g.44455868_44455869del, NC_000015.10:g.44455869del, NC_000015.10:g.44455869dup, NC_000015.10:g.44455868_44455869dup, NC_000015.10:g.44455867_44455869dup, NC_000015.10:g.44455866_44455869dup, NC_000015.10:g.44455865_44455869dup, NC_000015.10:g.44455864_44455869dup, NC_000015.10:g.44455863_44455869dup, NC_000015.10:g.44455862_44455869dup, NC_000015.10:g.44455861_44455869dup, NC_000015.10:g.44455860_44455869dup, NC_000015.10:g.44455858_44455869dup, NC_000015.9:g.44748049_44748067del, NC_000015.9:g.44748050_44748067del, NC_000015.9:g.44748051_44748067del, NC_000015.9:g.44748052_44748067del, NC_000015.9:g.44748053_44748067del, NC_000015.9:g.44748054_44748067del, NC_000015.9:g.44748055_44748067del, NC_000015.9:g.44748056_44748067del, NC_000015.9:g.44748057_44748067del, NC_000015.9:g.44748058_44748067del, NC_000015.9:g.44748059_44748067del, NC_000015.9:g.44748060_44748067del, NC_000015.9:g.44748061_44748067del, NC_000015.9:g.44748062_44748067del, NC_000015.9:g.44748063_44748067del, NC_000015.9:g.44748064_44748067del, NC_000015.9:g.44748065_44748067del, NC_000015.9:g.44748066_44748067del, NC_000015.9:g.44748067del, NC_000015.9:g.44748067dup, NC_000015.9:g.44748066_44748067dup, NC_000015.9:g.44748065_44748067dup, NC_000015.9:g.44748064_44748067dup, NC_000015.9:g.44748063_44748067dup, NC_000015.9:g.44748062_44748067dup, NC_000015.9:g.44748061_44748067dup, NC_000015.9:g.44748060_44748067dup, NC_000015.9:g.44748059_44748067dup, NC_000015.9:g.44748058_44748067dup, NC_000015.9:g.44748056_44748067dup
12.
rs1491360880 has merged into rs68063380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:44511876
(GRCh38)
15:44804074
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:44511867:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.44511876_44511892del, NC_000015.10:g.44511877_44511892del, NC_000015.10:g.44511878_44511892del, NC_000015.10:g.44511879_44511892del, NC_000015.10:g.44511880_44511892del, NC_000015.10:g.44511881_44511892del, NC_000015.10:g.44511882_44511892del, NC_000015.10:g.44511883_44511892del, NC_000015.10:g.44511884_44511892del, NC_000015.10:g.44511885_44511892del, NC_000015.10:g.44511886_44511892del, NC_000015.10:g.44511887_44511892del, NC_000015.10:g.44511888_44511892del, NC_000015.10:g.44511889_44511892del, NC_000015.10:g.44511890_44511892del, NC_000015.10:g.44511891_44511892del, NC_000015.10:g.44511892del, NC_000015.10:g.44511892dup, NC_000015.10:g.44511891_44511892dup, NC_000015.10:g.44511890_44511892dup, NC_000015.10:g.44511889_44511892dup, NC_000015.10:g.44511888_44511892dup, NC_000015.10:g.44511887_44511892dup, NC_000015.10:g.44511886_44511892dup, NC_000015.10:g.44511885_44511892dup, NC_000015.10:g.44511884_44511892dup, NC_000015.10:g.44511883_44511892dup, NC_000015.10:g.44511881_44511892dup, NC_000015.10:g.44511880_44511892dup, NC_000015.10:g.44511876_44511892dup, NC_000015.10:g.44511874_44511892dup, NC_000015.9:g.44804074_44804090del, NC_000015.9:g.44804075_44804090del, NC_000015.9:g.44804076_44804090del, NC_000015.9:g.44804077_44804090del, NC_000015.9:g.44804078_44804090del, NC_000015.9:g.44804079_44804090del, NC_000015.9:g.44804080_44804090del, NC_000015.9:g.44804081_44804090del, NC_000015.9:g.44804082_44804090del, NC_000015.9:g.44804083_44804090del, NC_000015.9:g.44804084_44804090del, NC_000015.9:g.44804085_44804090del, NC_000015.9:g.44804086_44804090del, NC_000015.9:g.44804087_44804090del, NC_000015.9:g.44804088_44804090del, NC_000015.9:g.44804089_44804090del, NC_000015.9:g.44804090del, NC_000015.9:g.44804090dup, NC_000015.9:g.44804089_44804090dup, NC_000015.9:g.44804088_44804090dup, NC_000015.9:g.44804087_44804090dup, NC_000015.9:g.44804086_44804090dup, NC_000015.9:g.44804085_44804090dup, NC_000015.9:g.44804084_44804090dup, NC_000015.9:g.44804083_44804090dup, NC_000015.9:g.44804082_44804090dup, NC_000015.9:g.44804081_44804090dup, NC_000015.9:g.44804079_44804090dup, NC_000015.9:g.44804078_44804090dup, NC_000015.9:g.44804074_44804090dup, NC_000015.9:g.44804072_44804090dup
13.
rs1491340441 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,TTA,TTTTTTTTTTTTTTTTA
[Show Flanks]
- Chromosome:
- 15:44462724
(GRCh38)
15:44754923
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44462724::C,NC_000015.10:44462724::TTA,NC_000015.10:44462724::TTTTTTTTTTTTTTTTA
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
TTTTTTTTTTTTTTTTA=0.000008/1
(GnomAD)
- HGVS:
15.
rs1491244032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 15:44431717
(GRCh38)
15:44723916
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44431717:T:TGT
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.000026/3
(GnomAD)
- HGVS:
16.
rs1491239183 has merged into rs35307134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:44455851
(GRCh38)
15:44748049
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:44455839:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.44455851_44455869del, NC_000015.10:g.44455852_44455869del, NC_000015.10:g.44455853_44455869del, NC_000015.10:g.44455854_44455869del, NC_000015.10:g.44455855_44455869del, NC_000015.10:g.44455856_44455869del, NC_000015.10:g.44455857_44455869del, NC_000015.10:g.44455858_44455869del, NC_000015.10:g.44455859_44455869del, NC_000015.10:g.44455860_44455869del, NC_000015.10:g.44455861_44455869del, NC_000015.10:g.44455862_44455869del, NC_000015.10:g.44455863_44455869del, NC_000015.10:g.44455864_44455869del, NC_000015.10:g.44455865_44455869del, NC_000015.10:g.44455866_44455869del, NC_000015.10:g.44455867_44455869del, NC_000015.10:g.44455868_44455869del, NC_000015.10:g.44455869del, NC_000015.10:g.44455869dup, NC_000015.10:g.44455868_44455869dup, NC_000015.10:g.44455867_44455869dup, NC_000015.10:g.44455866_44455869dup, NC_000015.10:g.44455865_44455869dup, NC_000015.10:g.44455864_44455869dup, NC_000015.10:g.44455863_44455869dup, NC_000015.10:g.44455862_44455869dup, NC_000015.10:g.44455861_44455869dup, NC_000015.10:g.44455860_44455869dup, NC_000015.10:g.44455858_44455869dup, NC_000015.9:g.44748049_44748067del, NC_000015.9:g.44748050_44748067del, NC_000015.9:g.44748051_44748067del, NC_000015.9:g.44748052_44748067del, NC_000015.9:g.44748053_44748067del, NC_000015.9:g.44748054_44748067del, NC_000015.9:g.44748055_44748067del, NC_000015.9:g.44748056_44748067del, NC_000015.9:g.44748057_44748067del, NC_000015.9:g.44748058_44748067del, NC_000015.9:g.44748059_44748067del, NC_000015.9:g.44748060_44748067del, NC_000015.9:g.44748061_44748067del, NC_000015.9:g.44748062_44748067del, NC_000015.9:g.44748063_44748067del, NC_000015.9:g.44748064_44748067del, NC_000015.9:g.44748065_44748067del, NC_000015.9:g.44748066_44748067del, NC_000015.9:g.44748067del, NC_000015.9:g.44748067dup, NC_000015.9:g.44748066_44748067dup, NC_000015.9:g.44748065_44748067dup, NC_000015.9:g.44748064_44748067dup, NC_000015.9:g.44748063_44748067dup, NC_000015.9:g.44748062_44748067dup, NC_000015.9:g.44748061_44748067dup, NC_000015.9:g.44748060_44748067dup, NC_000015.9:g.44748059_44748067dup, NC_000015.9:g.44748058_44748067dup, NC_000015.9:g.44748056_44748067dup
19.
rs1491113594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTT
[Show Flanks]
- Chromosome:
- 15:44444837
(GRCh38)
15:44737036
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44444837:TTTTT:TTTTTGTTTTT
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTTTTG=0.00003/2
(GnomAD)
- HGVS:
20.
rs1491088662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:44431716
(GRCh38)
15:44723914
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44431714:TGT:T
- Gene:
- CTDSPL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001349/16
(
ALFA)
-=0.002386/319
(GnomAD)
- HGVS: