Links from Gene
Items: 1 to 20 of 48595
1.
rs1491582643 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:36396530
(GRCh38)
20:35024934
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36396530:A:AA
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000009/1
(GnomAD)
- HGVS:
2.
rs1491568884 has merged into rs1161880479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 20:36511888
(GRCh38)
20:35140291
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.02574/14
(NorthernSweden)
- HGVS:
NC_000020.11:g.36511888_36511891del, NC_000020.11:g.36511889_36511891del, NC_000020.11:g.36511890_36511891del, NC_000020.11:g.36511891del, NC_000020.11:g.36511891dup, NC_000020.11:g.36511890_36511891dup, NC_000020.11:g.36511889_36511891dup, NC_000020.11:g.36511888_36511891dup, NC_000020.10:g.35140291_35140294del, NC_000020.10:g.35140292_35140294del, NC_000020.10:g.35140293_35140294del, NC_000020.10:g.35140294del, NC_000020.10:g.35140294dup, NC_000020.10:g.35140293_35140294dup, NC_000020.10:g.35140292_35140294dup, NC_000020.10:g.35140291_35140294dup
3.
rs1491557664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTCAA
[Show Flanks]
- Chromosome:
- 20:36524576
(GRCh38)
20:35152980
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36524576:AAGTCAA:AAGTCAAGTCAA
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGTCAAGTCAA=0./0
(
ALFA)
AAGTC=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491553192 has merged into rs1233513381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACAC>-,ACAC,ACACACACAC
[Show Flanks]
- Chromosome:
- 20:36396533
(GRCh38)
20:35024936
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36396529:CACACACAC:CAC,NC_000020.11:36396529:CACACACAC:CACACAC,NC_000020.11:36396529:CACACACAC:CACACACACACAC
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACAC=0./0
(
ALFA)
-=0.04257/1853
(GnomAD)
- HGVS:
5.
rs1491546777 has merged into rs1198703093 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGCGTGCGTG>-,TGCGTGCGTGTGCGTGCGTG
[Show Flanks]
- Chromosome:
- 20:36519441
(GRCh38)
20:35147844
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36519427:GTGTGCGTGCGTGTGCGTGCGTG:GTGTGCGTGCGTG,NC_000020.11:36519427:GTGTGCGTGCGTGTGCGTGCGTG:GTGTGCGTGCGTGTGCGTGCGTGTGCGTGCGTG
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGCGTGCGTGTGCGTGCGTGTGCGTGCGTG=0./0
(
ALFA)
-=0.00006/16
(TOPMED)
- HGVS:
6.
rs1491529403 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 20:36355299
(GRCh38)
20:34983703
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36355299:TT:TTCTT
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0.000169/2
(
ALFA)
TTC=0.000211/24
(GnomAD)
TTC=0.005225/87
(TOMMO)
- HGVS:
7.
rs1491512804 has merged into rs1194294335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:36453942
(GRCh38)
20:35082345
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36453934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.36453942_36453956del, NC_000020.11:g.36453944_36453956del, NC_000020.11:g.36453945_36453956del, NC_000020.11:g.36453946_36453956del, NC_000020.11:g.36453947_36453956del, NC_000020.11:g.36453948_36453956del, NC_000020.11:g.36453949_36453956del, NC_000020.11:g.36453950_36453956del, NC_000020.11:g.36453951_36453956del, NC_000020.11:g.36453952_36453956del, NC_000020.11:g.36453953_36453956del, NC_000020.11:g.36453954_36453956del, NC_000020.11:g.36453955_36453956del, NC_000020.11:g.36453956del, NC_000020.11:g.36453956dup, NC_000020.11:g.36453955_36453956dup, NC_000020.11:g.36453954_36453956dup, NC_000020.11:g.36453953_36453956dup, NC_000020.11:g.36453952_36453956dup, NC_000020.11:g.36453951_36453956dup, NC_000020.11:g.36453950_36453956dup, NC_000020.11:g.36453949_36453956dup, NC_000020.11:g.36453948_36453956dup, NC_000020.11:g.36453945_36453956dup, NC_000020.11:g.36453944_36453956dup, NC_000020.11:g.36453943_36453956dup, NC_000020.11:g.36453941_36453956dup, NC_000020.11:g.36453940_36453956dup, NC_000020.11:g.36453939_36453956dup, NC_000020.11:g.36453935_36453956dup, NC_000020.11:g.36453956_36453957insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.36453956_36453957insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35082345_35082359del, NC_000020.10:g.35082347_35082359del, NC_000020.10:g.35082348_35082359del, NC_000020.10:g.35082349_35082359del, NC_000020.10:g.35082350_35082359del, NC_000020.10:g.35082351_35082359del, NC_000020.10:g.35082352_35082359del, NC_000020.10:g.35082353_35082359del, NC_000020.10:g.35082354_35082359del, NC_000020.10:g.35082355_35082359del, NC_000020.10:g.35082356_35082359del, NC_000020.10:g.35082357_35082359del, NC_000020.10:g.35082358_35082359del, NC_000020.10:g.35082359del, NC_000020.10:g.35082359dup, NC_000020.10:g.35082358_35082359dup, NC_000020.10:g.35082357_35082359dup, NC_000020.10:g.35082356_35082359dup, NC_000020.10:g.35082355_35082359dup, NC_000020.10:g.35082354_35082359dup, NC_000020.10:g.35082353_35082359dup, NC_000020.10:g.35082352_35082359dup, NC_000020.10:g.35082351_35082359dup, NC_000020.10:g.35082348_35082359dup, NC_000020.10:g.35082347_35082359dup, NC_000020.10:g.35082346_35082359dup, NC_000020.10:g.35082344_35082359dup, NC_000020.10:g.35082343_35082359dup, NC_000020.10:g.35082342_35082359dup, NC_000020.10:g.35082338_35082359dup, NC_000020.10:g.35082359_35082360insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35082359_35082360insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491494702 has merged into rs1414809247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 20:36317223
(GRCh38)
20:1
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36317220:TTTTTT:TT,NC_000020.11:36317220:TTTTTT:TTTT,NC_000020.11:36317220:TTTTTT:TTTTTTT,NC_000020.11:36317220:TTTTTT:TTTTTTTT
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00015/4
(TOMMO)
- HGVS:
10.
rs1491494603 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 20:36396477
(GRCh38)
20:35024881
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36396477::GG
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GG=0.0001/2
(TOMMO)
- HGVS:
11.
rs1491486853 has merged into rs5841233 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:36430659
(GRCh38)
20:35059062
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36430648:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.36430659_36430672del, NC_000020.11:g.36430660_36430672del, NC_000020.11:g.36430661_36430672del, NC_000020.11:g.36430662_36430672del, NC_000020.11:g.36430663_36430672del, NC_000020.11:g.36430665_36430672del, NC_000020.11:g.36430666_36430672del, NC_000020.11:g.36430667_36430672del, NC_000020.11:g.36430668_36430672del, NC_000020.11:g.36430669_36430672del, NC_000020.11:g.36430670_36430672del, NC_000020.11:g.36430671_36430672del, NC_000020.11:g.36430672del, NC_000020.11:g.36430672dup, NC_000020.11:g.36430671_36430672dup, NC_000020.11:g.36430670_36430672dup, NC_000020.11:g.36430669_36430672dup, NC_000020.11:g.36430664_36430672dup, NC_000020.10:g.35059062_35059075del, NC_000020.10:g.35059063_35059075del, NC_000020.10:g.35059064_35059075del, NC_000020.10:g.35059065_35059075del, NC_000020.10:g.35059066_35059075del, NC_000020.10:g.35059068_35059075del, NC_000020.10:g.35059069_35059075del, NC_000020.10:g.35059070_35059075del, NC_000020.10:g.35059071_35059075del, NC_000020.10:g.35059072_35059075del, NC_000020.10:g.35059073_35059075del, NC_000020.10:g.35059074_35059075del, NC_000020.10:g.35059075del, NC_000020.10:g.35059075dup, NC_000020.10:g.35059074_35059075dup, NC_000020.10:g.35059073_35059075dup, NC_000020.10:g.35059072_35059075dup, NC_000020.10:g.35059067_35059075dup
12.
rs1491474285 has merged into rs555766337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:36327605
(GRCh38)
20:34956008
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36327590:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.10942/548
(1000Genomes)
- HGVS:
NC_000020.11:g.36327605_36327609del, NC_000020.11:g.36327606_36327609del, NC_000020.11:g.36327607_36327609del, NC_000020.11:g.36327608_36327609del, NC_000020.11:g.36327609del, NC_000020.11:g.36327609dup, NC_000020.11:g.36327608_36327609dup, NC_000020.11:g.36327607_36327609dup, NC_000020.11:g.36327606_36327609dup, NC_000020.11:g.36327605_36327609dup, NC_000020.11:g.36327604_36327609dup, NC_000020.10:g.34956008_34956012del, NC_000020.10:g.34956009_34956012del, NC_000020.10:g.34956010_34956012del, NC_000020.10:g.34956011_34956012del, NC_000020.10:g.34956012del, NC_000020.10:g.34956012dup, NC_000020.10:g.34956011_34956012dup, NC_000020.10:g.34956010_34956012dup, NC_000020.10:g.34956009_34956012dup, NC_000020.10:g.34956008_34956012dup, NC_000020.10:g.34956007_34956012dup, NW_003871095.1:g.32267_32271del, NW_003871095.1:g.32268_32271del, NW_003871095.1:g.32269_32271del, NW_003871095.1:g.32270_32271del, NW_003871095.1:g.32271del, NW_003871095.1:g.32271dup, NW_003871095.1:g.32270_32271dup, NW_003871095.1:g.32269_32271dup, NW_003871095.1:g.32268_32271dup, NW_003871095.1:g.32267_32271dup, NW_003871095.1:g.32266_32271dup
13.
rs1491460571 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 20:36511875
(GRCh38)
20:35140279
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36511875:A:ACA
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
AC=0.00001/1
(GnomAD)
AC=0.00046/8
(TOMMO)
- HGVS:
14.
rs1491457336 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CACACAC
[Show Flanks]
- Chromosome:
- 20:36396672
(GRCh38)
20:35025076
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36396672::CACACAC
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CACACAC=0.00301/50
(TOMMO)
- HGVS:
15.
rs1491449459 has merged into rs201711407 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 20:36438377
(GRCh38)
20:35066780
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36438371:AAAAAAAAA:AAAAA,NC_000020.11:36438371:AAAAAAAAA:AAAAAAA,NC_000020.11:36438371:AAAAAAAAA:AAAAAAAA,NC_000020.11:36438371:AAAAAAAAA:AAAAAAAAAA,NC_000020.11:36438371:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.036972/21
(NorthernSweden)
-=0.040462/10710
(TOPMED)
-=0.05/2
(GENOME_DK)
-=0.079122/119
(Korea1K)
- HGVS:
17.
rs1491430854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:36499227
(GRCh38)
20:35127630
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36499221:TCTCTCT:TCTCT
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1491418927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTCTTT
[Show Flanks]
- Chromosome:
- 20:36317221
(GRCh38)
20:-1
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36317221:TTTTTCTTT:TTTTTCTTTTTCTTT
- Gene:
- DLGAP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTCTTTTTCTTT=0./0
(
ALFA)
- HGVS:
19.
rs1491412580 has merged into rs58243787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 20:36519965
(GRCh38)
20:35148368
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1491377899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGTGTAAAAATAT
[Show Flanks]
- Chromosome:
- 20:36528099
(GRCh38)
20:35156503
(GRCh37)
- Canonical SPDI:
- NC_000020.11:36528099:TGTGTGTAAAAATAT:TGTGTGTAAAAATATGTGTGTAAAAATAT
- Gene:
- DLGAP4 (Varview), DLGAP4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTAAAAATATGTGTGTAAAAATAT=0./0
(
ALFA)
TGTGTGTAAAAATA=0.000007/1
(GnomAD)
TGTGTGTAAAAATA=0.000008/2
(TOPMED)
- HGVS:
NC_000020.11:g.36528101_36528114dup, NC_000020.10:g.35156504_35156517dup, NM_014902.6:c.*1070_*1083dup, NM_014902.5:c.*1070_*1083dup, NM_014902.4:c.*1070_*1083dup, NM_183006.4:c.*1070_*1083dup, NM_183006.3:c.*1070_*1083dup, NM_183006.2:c.*1070_*1083dup, NM_001042486.4:c.*1070_*1083dup, NM_001042486.3:c.*1070_*1083dup, NM_001042486.2:c.*1070_*1083dup, NM_001365621.2:c.*1070_*1083dup, NM_001365621.1:c.*1070_*1083dup, NM_001388274.1:c.*1070_*1083dup, NM_001388271.1:c.*1070_*1083dup, NM_001388278.1:c.*1070_*1083dup, NM_001388268.1:c.*1070_*1083dup, NM_001388265.1:c.*1070_*1083dup, NM_001388262.1:c.*1070_*1083dup, NM_001388260.1:c.*1070_*1083dup, NM_001388275.1:c.*1070_*1083dup, NM_001388277.1:c.*1070_*1083dup, NM_001388257.1:c.*1070_*1083dup