Links from Gene
Items: 1 to 20 of 1000
1.
rs1491516447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:73966479
(GRCh38)
14:74433183
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73966479:C:CC
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.73966480dup, NC_000014.8:g.74433183dup, NM_001249.5:c.*448dup, NM_001249.4:c.*448dup, NM_001249.3:c.*448dup, NM_001249.2:c.*448dup, NM_001321988.3:c.*448dup, NM_001321988.2:c.*448dup, NM_001321988.1:c.*448dup, NM_001321987.3:c.*448dup, NM_001321987.2:c.*448dup, NM_001321987.1:c.*448dup, NM_001321985.3:c.*448dup, NM_001321985.2:c.*448dup, NM_001321985.1:c.*448dup, NM_001321986.3:c.*448dup, NM_001321986.2:c.*448dup, NM_001321986.1:c.*448dup, XM_024449758.2:c.*448dup, XM_024449758.1:c.*448dup, XM_017021816.2:c.*448dup, XM_017021816.1:c.*448dup, XM_047431974.1:c.*448dup, XM_047431976.1:c.*448dup, NM_001382257.1:c.*448dup, NM_001382256.1:c.*448dup, NM_001382263.1:c.*448dup
5.
rs1491462343 has merged into rs141459361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 14:73962570
(GRCh38)
14:74429273
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73962561:AAAAAAAAAAA:AAAAAAAA,NC_000014.9:73962561:AAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73962561:AAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:73962561:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73962561:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- ENTPD5 (Varview), COQ6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.24454/448
(Korea1K)
A=0.34105/1708
(1000Genomes)
A=0.41356/244
(NorthernSweden)
A=0.4499/449
(GoNL)
A=0.47276/1753
(TWINSUK)
A=0.47665/1837
(ALSPAC)
- HGVS:
NC_000014.9:g.73962570_73962572del, NC_000014.9:g.73962571_73962572del, NC_000014.9:g.73962572del, NC_000014.9:g.73962572dup, NC_000014.9:g.73962571_73962572dup, NC_000014.8:g.74429273_74429275del, NC_000014.8:g.74429274_74429275del, NC_000014.8:g.74429275del, NC_000014.8:g.74429275dup, NC_000014.8:g.74429274_74429275dup, NG_032805.1:g.17637_17639del, NG_032805.1:g.17638_17639del, NG_032805.1:g.17639del, NG_032805.1:g.17639dup, NG_032805.1:g.17638_17639dup
6.
rs1491443325 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:74014381
(GRCh38)
14:74481085
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74014381::T
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00007/1
(
ALFA)
T=0.00004/4
(GnomAD)
- HGVS:
8.
rs1491419697 has merged into rs140409853 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 14:73981506
(GRCh38)
14:74448209
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73981494:TATATATATATATAT:TATATATATAT,NC_000014.9:73981494:TATATATATATATAT:TATATATATATAT,NC_000014.9:73981494:TATATATATATATAT:TATATATATATATATAT,NC_000014.9:73981494:TATATATATATATAT:TATATATATATATATATAT
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATAT=0./0
(
ALFA)
TA=0.02167/13
(NorthernSweden)
TA=0.05/2
(GENOME_DK)
TA=0.05915/265
(Estonian)
TA=0.11621/582
(1000Genomes)
- HGVS:
9.
rs1491361907 has merged into rs1414908641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 14:73966484
(GRCh38)
14:74433187
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73966478:TCTCTCT:TCTCT,NC_000014.9:73966478:TCTCTCT:TCTCTCTCT
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCT=0./0
(
ALFA)
TC=0.000026/7
(TOPMED)
- HGVS:
NC_000014.9:g.73966480CT[2], NC_000014.9:g.73966480CT[4], NC_000014.8:g.74433183CT[2], NC_000014.8:g.74433183CT[4], NM_001249.5:c.*444GA[2], NM_001249.5:c.*444GA[4], NM_001249.4:c.*444GA[2], NM_001249.4:c.*444GA[4], NM_001249.3:c.*444GA[2], NM_001249.3:c.*444GA[4], NM_001249.2:c.*444GA[2], NM_001249.2:c.*444GA[4], NM_001321988.3:c.*444GA[2], NM_001321988.3:c.*444GA[4], NM_001321988.2:c.*444GA[2], NM_001321988.2:c.*444GA[4], NM_001321988.1:c.*444GA[2], NM_001321988.1:c.*444GA[4], NM_001321987.3:c.*444GA[2], NM_001321987.3:c.*444GA[4], NM_001321987.2:c.*444GA[2], NM_001321987.2:c.*444GA[4], NM_001321987.1:c.*444GA[2], NM_001321987.1:c.*444GA[4], NM_001321985.3:c.*444GA[2], NM_001321985.3:c.*444GA[4], NM_001321985.2:c.*444GA[2], NM_001321985.2:c.*444GA[4], NM_001321985.1:c.*444GA[2], NM_001321985.1:c.*444GA[4], NM_001321986.3:c.*444GA[2], NM_001321986.3:c.*444GA[4], NM_001321986.2:c.*444GA[2], NM_001321986.2:c.*444GA[4], NM_001321986.1:c.*444GA[2], NM_001321986.1:c.*444GA[4], XM_024449758.2:c.*444GA[2], XM_024449758.2:c.*444GA[4], XM_024449758.1:c.*444GA[2], XM_024449758.1:c.*444GA[4], XM_017021816.2:c.*444GA[2], XM_017021816.2:c.*444GA[4], XM_017021816.1:c.*444GA[2], XM_017021816.1:c.*444GA[4], XM_047431974.1:c.*444GA[2], XM_047431974.1:c.*444GA[4], XM_047431976.1:c.*444GA[2], XM_047431976.1:c.*444GA[4], NM_001382257.1:c.*444GA[2], NM_001382257.1:c.*444GA[4], NM_001382256.1:c.*444GA[2], NM_001382256.1:c.*444GA[4], NM_001382263.1:c.*444GA[2], NM_001382263.1:c.*444GA[4]
10.
rs1491348534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:74014392
(GRCh38)
14:74481095
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74014389:CACA:CA
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000073/10
(GnomAD)
-=0.002548/43
(TOMMO)
-=0.007096/13
(Korea1K)
- HGVS:
11.
rs1491322320 has merged into rs56117033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73981820
(GRCh38)
14:74448523
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73981807:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1606/619
(ALSPAC)
-=0.3792/1899
(1000Genomes)
- HGVS:
NC_000014.9:g.73981820_73981823del, NC_000014.9:g.73981821_73981823del, NC_000014.9:g.73981822_73981823del, NC_000014.9:g.73981823del, NC_000014.9:g.73981823dup, NC_000014.9:g.73981822_73981823dup, NC_000014.9:g.73981816_73981823dup, NC_000014.8:g.74448523_74448526del, NC_000014.8:g.74448524_74448526del, NC_000014.8:g.74448525_74448526del, NC_000014.8:g.74448526del, NC_000014.8:g.74448526dup, NC_000014.8:g.74448525_74448526dup, NC_000014.8:g.74448519_74448526dup
12.
rs1491311445 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:74012292
(GRCh38)
14:74478996
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74012292::C
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000063/5
(GnomAD)
- HGVS:
14.
rs1491231512 has merged into rs201751093 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 14:73977399
(GRCh38)
14:74444102
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73977387:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.377/1636
(1000Genomes)
A=0.475/19
(GENOME_DK)
- HGVS:
NC_000014.9:g.73977399_73977402del, NC_000014.9:g.73977400_73977402del, NC_000014.9:g.73977401_73977402del, NC_000014.9:g.73977402del, NC_000014.9:g.73977402dup, NC_000014.9:g.73977401_73977402dup, NC_000014.9:g.73977400_73977402dup, NC_000014.8:g.74444102_74444105del, NC_000014.8:g.74444103_74444105del, NC_000014.8:g.74444104_74444105del, NC_000014.8:g.74444105del, NC_000014.8:g.74444105dup, NC_000014.8:g.74444104_74444105dup, NC_000014.8:g.74444103_74444105dup
15.
rs1491228059 has merged into rs78774733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 14:74012298
(GRCh38)
14:74479001
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74012291:GGGGGGGG:GGGGGG,NC_000014.9:74012291:GGGGGGGG:GGGGGGG,NC_000014.9:74012291:GGGGGGGG:GGGGGGGGG,NC_000014.9:74012291:GGGGGGGG:GGGGGGGGGG,NC_000014.9:74012291:GGGGGGGG:GGGGGGGGGGG
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0.00009/1
(
ALFA)
-=0.05682/219
(ALSPAC)
-=0.20041/777
(1000Genomes)
- HGVS:
16.
rs1491174088 has merged into rs1252517633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 14:74007846
(GRCh38)
14:74474549
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:74007832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.74007846_74007848del, NC_000014.9:g.74007847_74007848del, NC_000014.9:g.74007848del, NC_000014.9:g.74007848dup, NC_000014.9:g.74007847_74007848dup, NC_000014.9:g.74007846_74007848dup, NC_000014.8:g.74474549_74474551del, NC_000014.8:g.74474550_74474551del, NC_000014.8:g.74474551del, NC_000014.8:g.74474551dup, NC_000014.8:g.74474550_74474551dup, NC_000014.8:g.74474549_74474551dup
17.
rs1491128270 has merged into rs33926682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73967807
(GRCh38)
14:74434510
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73967799:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.4583/2295
(1000Genomes)
- HGVS:
NC_000014.9:g.73967807_73967817del, NC_000014.9:g.73967808_73967817del, NC_000014.9:g.73967810_73967817del, NC_000014.9:g.73967811_73967817del, NC_000014.9:g.73967812_73967817del, NC_000014.9:g.73967813_73967817del, NC_000014.9:g.73967814_73967817del, NC_000014.9:g.73967815_73967817del, NC_000014.9:g.73967816_73967817del, NC_000014.9:g.73967817del, NC_000014.9:g.73967817dup, NC_000014.9:g.73967816_73967817dup, NC_000014.9:g.73967815_73967817dup, NC_000014.9:g.73967812_73967817dup, NC_000014.9:g.73967809_73967817dup, NC_000014.9:g.73967808_73967817dup, NC_000014.9:g.73967805_73967817dup, NC_000014.9:g.73967804_73967817dup, NC_000014.9:g.73967803_73967817dup, NC_000014.9:g.73967802_73967817dup, NC_000014.8:g.74434510_74434520del, NC_000014.8:g.74434511_74434520del, NC_000014.8:g.74434513_74434520del, NC_000014.8:g.74434514_74434520del, NC_000014.8:g.74434515_74434520del, NC_000014.8:g.74434516_74434520del, NC_000014.8:g.74434517_74434520del, NC_000014.8:g.74434518_74434520del, NC_000014.8:g.74434519_74434520del, NC_000014.8:g.74434520del, NC_000014.8:g.74434520dup, NC_000014.8:g.74434519_74434520dup, NC_000014.8:g.74434518_74434520dup, NC_000014.8:g.74434515_74434520dup, NC_000014.8:g.74434512_74434520dup, NC_000014.8:g.74434511_74434520dup, NC_000014.8:g.74434508_74434520dup, NC_000014.8:g.74434507_74434520dup, NC_000014.8:g.74434506_74434520dup, NC_000014.8:g.74434505_74434520dup
18.
rs1491113291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:73993925
(GRCh38)
14:74460628
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73993923:ACA:A
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/3
(GnomAD)
- HGVS:
19.
rs1491071268 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:74014389
(GRCh38)
14:74481093
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74014389::G
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
20.
rs1491039327 has merged into rs34404213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73996518
(GRCh38)
14:74463221
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73996504:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ENTPD5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.73996518_73996522del, NC_000014.9:g.73996520_73996522del, NC_000014.9:g.73996521_73996522del, NC_000014.9:g.73996522del, NC_000014.9:g.73996522dup, NC_000014.9:g.73996521_73996522dup, NC_000014.9:g.73996520_73996522dup, NC_000014.9:g.73996513_73996522dup, NC_000014.8:g.74463221_74463225del, NC_000014.8:g.74463223_74463225del, NC_000014.8:g.74463224_74463225del, NC_000014.8:g.74463225del, NC_000014.8:g.74463225dup, NC_000014.8:g.74463224_74463225dup, NC_000014.8:g.74463223_74463225dup, NC_000014.8:g.74463216_74463225dup