Links from Gene
Items: 1 to 20 of 1000
4.
rs1491528757 has merged into rs67392625 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT
[Show Flanks]
- Chromosome:
- 2:71302975
(GRCh38)
2:71530105
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71302970:TTTTTTT:TTTT,NC_000002.12:71302970:TTTTTTT:TTTTT,NC_000002.12:71302970:TTTTTTT:TTTTTT,NC_000002.12:71302970:TTTTTTT:TTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0.00193/30
(
ALFA)
-=0.00671/29
(Estonian)
-=0.275/11
(GENOME_DK)
- HGVS:
5.
rs1491527030 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 2:71321665
(GRCh38)
2:71548795
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71321664:TC:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491490575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAT
[Show Flanks]
- Chromosome:
- 2:71377576
(GRCh38)
2:71604707
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71377576:AT:ATAAT
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAAT=0./0
(
ALFA)
ATA=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491485648 has merged into rs1290412487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71300510
(GRCh38)
2:71527640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.71300510_71300520del, NC_000002.12:g.71300511_71300520del, NC_000002.12:g.71300513_71300520del, NC_000002.12:g.71300517_71300520del, NC_000002.12:g.71300519_71300520del, NC_000002.12:g.71300520del, NC_000002.12:g.71300520dup, NC_000002.12:g.71300519_71300520dup, NC_000002.12:g.71300518_71300520dup, NC_000002.12:g.71300517_71300520dup, NC_000002.12:g.71300516_71300520dup, NC_000002.12:g.71300515_71300520dup, NC_000002.12:g.71300514_71300520dup, NC_000002.12:g.71300513_71300520dup, NC_000002.12:g.71300512_71300520dup, NC_000002.12:g.71300511_71300520dup, NC_000002.12:g.71300504_71300520dup, NC_000002.12:g.71300500_71300520dup, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527640_71527650del, NC_000002.11:g.71527641_71527650del, NC_000002.11:g.71527643_71527650del, NC_000002.11:g.71527647_71527650del, NC_000002.11:g.71527649_71527650del, NC_000002.11:g.71527650del, NC_000002.11:g.71527650dup, NC_000002.11:g.71527649_71527650dup, NC_000002.11:g.71527648_71527650dup, NC_000002.11:g.71527647_71527650dup, NC_000002.11:g.71527646_71527650dup, NC_000002.11:g.71527645_71527650dup, NC_000002.11:g.71527644_71527650dup, NC_000002.11:g.71527643_71527650dup, NC_000002.11:g.71527642_71527650dup, NC_000002.11:g.71527641_71527650dup, NC_000002.11:g.71527634_71527650dup, NC_000002.11:g.71527630_71527650dup, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491447941 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:71303304
(GRCh38)
2:71530435
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71303304:C:CC
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000478/64
(GnomAD)
- HGVS:
10.
rs1491436411 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:71367751
(GRCh38)
2:71594881
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71367750:TA:
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000109/12
(GnomAD)
- HGVS:
11.
rs1491428997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 2:71383763
(GRCh38)
2:71610894
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71383763:TT:TTCTT
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0.00008/1
(
ALFA)
TTC=0.00096/3
(GnomAD)
- HGVS:
12.
rs1491428356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:71411488
(GRCh38)
2:71638618
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71411486:TAT:T
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000008/1
(GnomAD)
-=0.000045/1
(TOMMO)
- HGVS:
13.
rs1491398243 has merged into rs972567815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71356801
(GRCh38)
2:71583931
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00218/4
(Korea1K)
- HGVS:
NC_000002.12:g.71356801_71356806del, NC_000002.12:g.71356803_71356806del, NC_000002.12:g.71356804_71356806del, NC_000002.12:g.71356805_71356806del, NC_000002.12:g.71356806del, NC_000002.12:g.71356806dup, NC_000002.12:g.71356805_71356806dup, NC_000002.11:g.71583931_71583936del, NC_000002.11:g.71583933_71583936del, NC_000002.11:g.71583934_71583936del, NC_000002.11:g.71583935_71583936del, NC_000002.11:g.71583936del, NC_000002.11:g.71583936dup, NC_000002.11:g.71583935_71583936dup
14.
rs1491339615 has merged into rs58219651 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:71386302
(GRCh38)
2:71613432
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.4754/2381
(1000Genomes)
- HGVS:
NC_000002.12:g.71386302_71386317del, NC_000002.12:g.71386304_71386317del, NC_000002.12:g.71386305_71386317del, NC_000002.12:g.71386306_71386317del, NC_000002.12:g.71386307_71386317del, NC_000002.12:g.71386308_71386317del, NC_000002.12:g.71386309_71386317del, NC_000002.12:g.71386310_71386317del, NC_000002.12:g.71386311_71386317del, NC_000002.12:g.71386312_71386317del, NC_000002.12:g.71386313_71386317del, NC_000002.12:g.71386314_71386317del, NC_000002.12:g.71386315_71386317del, NC_000002.12:g.71386316_71386317del, NC_000002.12:g.71386317del, NC_000002.12:g.71386317dup, NC_000002.12:g.71386316_71386317dup, NC_000002.12:g.71386312_71386317dup, NC_000002.12:g.71386311_71386317dup, NC_000002.12:g.71386317_71386318insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.71613432_71613447del, NC_000002.11:g.71613434_71613447del, NC_000002.11:g.71613435_71613447del, NC_000002.11:g.71613436_71613447del, NC_000002.11:g.71613437_71613447del, NC_000002.11:g.71613438_71613447del, NC_000002.11:g.71613439_71613447del, NC_000002.11:g.71613440_71613447del, NC_000002.11:g.71613441_71613447del, NC_000002.11:g.71613442_71613447del, NC_000002.11:g.71613443_71613447del, NC_000002.11:g.71613444_71613447del, NC_000002.11:g.71613445_71613447del, NC_000002.11:g.71613446_71613447del, NC_000002.11:g.71613447del, NC_000002.11:g.71613447dup, NC_000002.11:g.71613446_71613447dup, NC_000002.11:g.71613442_71613447dup, NC_000002.11:g.71613441_71613447dup, NC_000002.11:g.71613447_71613448insAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491303807 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:71321665
(GRCh38)
2:71548796
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71321665:C:CC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
17.
rs1491264829 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:71377577
(GRCh38)
2:71604707
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71377575:TAT:T
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
-=0.000107/15
(GnomAD)
-=0.00017/45
(TOPMED)
- HGVS:
18.
rs1491258275 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:71386293
(GRCh38)
2:71613423
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71386292:CA:
- Gene:
- ZNF638 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00169/20
(
ALFA)
-=0.00011/3
(TOMMO)
-=0.00174/3
(Korea1K)
- HGVS:
19.
rs1491257051 has merged into rs70959225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71286153
(GRCh38)
2:71513283
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.2686/1345
(1000Genomes)
- HGVS:
NC_000002.12:g.71286153_71286159del, NC_000002.12:g.71286154_71286159del, NC_000002.12:g.71286155_71286159del, NC_000002.12:g.71286156_71286159del, NC_000002.12:g.71286157_71286159del, NC_000002.12:g.71286158_71286159del, NC_000002.12:g.71286159del, NC_000002.12:g.71286159dup, NC_000002.12:g.71286158_71286159dup, NC_000002.12:g.71286157_71286159dup, NC_000002.12:g.71286156_71286159dup, NC_000002.12:g.71286155_71286159dup, NC_000002.12:g.71286154_71286159dup, NC_000002.12:g.71286153_71286159dup, NC_000002.12:g.71286152_71286159dup, NC_000002.12:g.71286151_71286159dup, NC_000002.12:g.71286150_71286159dup, NC_000002.12:g.71286149_71286159dup, NC_000002.12:g.71286148_71286159dup, NC_000002.12:g.71286144_71286159T[28]GAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286147_71286159dup, NC_000002.12:g.71286146_71286159dup, NC_000002.12:g.71286145_71286159dup, NC_000002.12:g.71286144_71286159dup, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[38]GTTTT[2]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[41]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[62]GTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513283_71513289del, NC_000002.11:g.71513284_71513289del, NC_000002.11:g.71513285_71513289del, NC_000002.11:g.71513286_71513289del, NC_000002.11:g.71513287_71513289del, NC_000002.11:g.71513288_71513289del, NC_000002.11:g.71513289del, NC_000002.11:g.71513289dup, NC_000002.11:g.71513288_71513289dup, NC_000002.11:g.71513287_71513289dup, NC_000002.11:g.71513286_71513289dup, NC_000002.11:g.71513285_71513289dup, NC_000002.11:g.71513284_71513289dup, NC_000002.11:g.71513283_71513289dup, NC_000002.11:g.71513282_71513289dup, NC_000002.11:g.71513281_71513289dup, NC_000002.11:g.71513280_71513289dup, NC_000002.11:g.71513279_71513289dup, NC_000002.11:g.71513278_71513289dup, NC_000002.11:g.71513274_71513289T[28]GAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513277_71513289dup, NC_000002.11:g.71513276_71513289dup, NC_000002.11:g.71513275_71513289dup, NC_000002.11:g.71513274_71513289dup, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[38]GTTTT[2]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[41]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[62]GTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]