Links from Gene
Items: 1 to 20 of 1000
1.
rs1491565963 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:109044989
(GRCh38)
12:109482795
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109044989::C
- Gene:
- USP30 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491530495 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:109061410
(GRCh38)
12:109499215
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109061409:AT:
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000148/20
(GnomAD)
-=0.001628/27
(TOMMO)
- HGVS:
3.
rs1491418679 has merged into rs1298832604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 12:109061424
(GRCh38)
12:109499229
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109061410:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:109061410:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:109061410:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
5.
rs1491322948 has merged into rs869090869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:109055411
(GRCh38)
12:109493216
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109055400:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP30 (Varview), USP30-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0257/11
(NorthernSweden)
-=0.11394/2231
(TOMMO)
- HGVS:
NC_000012.12:g.109055411_109055420del, NC_000012.12:g.109055412_109055420del, NC_000012.12:g.109055413_109055420del, NC_000012.12:g.109055414_109055420del, NC_000012.12:g.109055415_109055420del, NC_000012.12:g.109055416_109055420del, NC_000012.12:g.109055417_109055420del, NC_000012.12:g.109055418_109055420del, NC_000012.12:g.109055419_109055420del, NC_000012.12:g.109055420del, NC_000012.12:g.109055420dup, NC_000012.12:g.109055419_109055420dup, NC_000012.12:g.109055418_109055420dup, NC_000012.12:g.109055417_109055420dup, NC_000012.12:g.109055416_109055420dup, NC_000012.12:g.109055415_109055420dup, NC_000012.12:g.109055414_109055420dup, NC_000012.12:g.109055413_109055420dup, NC_000012.12:g.109055412_109055420dup, NC_000012.12:g.109055411_109055420dup, NC_000012.12:g.109055410_109055420dup, NC_000012.12:g.109055409_109055420dup, NC_000012.12:g.109055408_109055420dup, NC_000012.12:g.109055407_109055420dup, NC_000012.12:g.109055406_109055420dup, NC_000012.12:g.109055405_109055420dup, NC_000012.12:g.109055404_109055420dup, NC_000012.11:g.109493216_109493225del, NC_000012.11:g.109493217_109493225del, NC_000012.11:g.109493218_109493225del, NC_000012.11:g.109493219_109493225del, NC_000012.11:g.109493220_109493225del, NC_000012.11:g.109493221_109493225del, NC_000012.11:g.109493222_109493225del, NC_000012.11:g.109493223_109493225del, NC_000012.11:g.109493224_109493225del, NC_000012.11:g.109493225del, NC_000012.11:g.109493225dup, NC_000012.11:g.109493224_109493225dup, NC_000012.11:g.109493223_109493225dup, NC_000012.11:g.109493222_109493225dup, NC_000012.11:g.109493221_109493225dup, NC_000012.11:g.109493220_109493225dup, NC_000012.11:g.109493219_109493225dup, NC_000012.11:g.109493218_109493225dup, NC_000012.11:g.109493217_109493225dup, NC_000012.11:g.109493216_109493225dup, NC_000012.11:g.109493215_109493225dup, NC_000012.11:g.109493214_109493225dup, NC_000012.11:g.109493213_109493225dup, NC_000012.11:g.109493212_109493225dup, NC_000012.11:g.109493211_109493225dup, NC_000012.11:g.109493210_109493225dup, NC_000012.11:g.109493209_109493225dup
6.
rs1491310447 has merged into rs138942249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:109051260
(GRCh38)
12:109489065
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109051249:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.109051260_109051274del, NC_000012.12:g.109051261_109051274del, NC_000012.12:g.109051262_109051274del, NC_000012.12:g.109051263_109051274del, NC_000012.12:g.109051264_109051274del, NC_000012.12:g.109051265_109051274del, NC_000012.12:g.109051266_109051274del, NC_000012.12:g.109051267_109051274del, NC_000012.12:g.109051268_109051274del, NC_000012.12:g.109051269_109051274del, NC_000012.12:g.109051270_109051274del, NC_000012.12:g.109051271_109051274del, NC_000012.12:g.109051272_109051274del, NC_000012.12:g.109051273_109051274del, NC_000012.12:g.109051274del, NC_000012.12:g.109051274dup, NC_000012.12:g.109051273_109051274dup, NC_000012.12:g.109051272_109051274dup, NC_000012.12:g.109051271_109051274dup, NC_000012.12:g.109051270_109051274dup, NC_000012.12:g.109051269_109051274dup, NC_000012.12:g.109051268_109051274dup, NC_000012.12:g.109051267_109051274dup, NC_000012.12:g.109051266_109051274dup, NC_000012.12:g.109051265_109051274dup, NC_000012.12:g.109051264_109051274dup, NC_000012.12:g.109051263_109051274dup, NC_000012.12:g.109051261_109051274dup, NC_000012.12:g.109051251_109051274dup, NC_000012.12:g.109051274_109051275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109489065_109489079del, NC_000012.11:g.109489066_109489079del, NC_000012.11:g.109489067_109489079del, NC_000012.11:g.109489068_109489079del, NC_000012.11:g.109489069_109489079del, NC_000012.11:g.109489070_109489079del, NC_000012.11:g.109489071_109489079del, NC_000012.11:g.109489072_109489079del, NC_000012.11:g.109489073_109489079del, NC_000012.11:g.109489074_109489079del, NC_000012.11:g.109489075_109489079del, NC_000012.11:g.109489076_109489079del, NC_000012.11:g.109489077_109489079del, NC_000012.11:g.109489078_109489079del, NC_000012.11:g.109489079del, NC_000012.11:g.109489079dup, NC_000012.11:g.109489078_109489079dup, NC_000012.11:g.109489077_109489079dup, NC_000012.11:g.109489076_109489079dup, NC_000012.11:g.109489075_109489079dup, NC_000012.11:g.109489074_109489079dup, NC_000012.11:g.109489073_109489079dup, NC_000012.11:g.109489072_109489079dup, NC_000012.11:g.109489071_109489079dup, NC_000012.11:g.109489070_109489079dup, NC_000012.11:g.109489069_109489079dup, NC_000012.11:g.109489068_109489079dup, NC_000012.11:g.109489066_109489079dup, NC_000012.11:g.109489056_109489079dup, NC_000012.11:g.109489079_109489080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491127896 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:109085965
(GRCh38)
12:109523771
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109085965:T:TT
- Gene:
- USP30 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.109085966dup, NC_000012.11:g.109523771dup, NM_032663.5:c.*35dup, NM_032663.4:c.*35dup, NM_032663.3:c.*35dup, XM_005253965.5:c.*35dup, XM_005253965.4:c.*35dup, XM_005253965.3:c.*35dup, XM_005253965.2:c.*35dup, XM_005253965.1:c.*35dup, XM_005253962.4:c.*35dup, XM_005253962.3:c.*35dup, XM_005253962.2:c.*35dup, XM_005253962.1:c.*35dup, XM_017020052.3:c.*35dup, XM_017020052.2:c.*35dup, XM_017020052.1:c.*35dup, XM_017020051.3:c.*35dup, XM_017020051.2:c.*35dup, XM_017020051.1:c.*35dup, NM_001301175.2:c.*35dup, NM_001301175.1:c.*35dup, XM_017020050.2:c.*35dup, XM_017020050.1:c.*35dup, XM_017020048.2:c.*35dup, XM_017020048.1:c.*35dup, XM_017020049.2:c.*35dup, XM_017020049.1:c.*35dup, XM_017020053.2:c.*35dup, XM_017020053.1:c.*35dup, XM_047429733.1:c.*35dup, XM_047429732.1:c.*35dup, XM_047429735.1:c.*35dup, XM_047429734.1:c.*35dup
8.
rs1491089380 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:109081618
(GRCh38)
12:109519423
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109081617:TG:
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00285/11
(ALSPAC)
-=0.00431/16
(TWINSUK)
- HGVS:
9.
rs1491028238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 12:109078614
(GRCh38)
12:109516419
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109078611:AGAG:AG
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491023061 has merged into rs35466141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:109066257
(GRCh38)
12:109504062
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:109066247:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.109066257_109066266del, NC_000012.12:g.109066258_109066266del, NC_000012.12:g.109066259_109066266del, NC_000012.12:g.109066261_109066266del, NC_000012.12:g.109066262_109066266del, NC_000012.12:g.109066263_109066266del, NC_000012.12:g.109066264_109066266del, NC_000012.12:g.109066265_109066266del, NC_000012.12:g.109066266del, NC_000012.12:g.109066266dup, NC_000012.12:g.109066265_109066266dup, NC_000012.12:g.109066264_109066266dup, NC_000012.12:g.109066263_109066266dup, NC_000012.12:g.109066262_109066266dup, NC_000012.12:g.109066261_109066266dup, NC_000012.12:g.109066260_109066266dup, NC_000012.12:g.109066258_109066266dup, NC_000012.11:g.109504062_109504071del, NC_000012.11:g.109504063_109504071del, NC_000012.11:g.109504064_109504071del, NC_000012.11:g.109504066_109504071del, NC_000012.11:g.109504067_109504071del, NC_000012.11:g.109504068_109504071del, NC_000012.11:g.109504069_109504071del, NC_000012.11:g.109504070_109504071del, NC_000012.11:g.109504071del, NC_000012.11:g.109504071dup, NC_000012.11:g.109504070_109504071dup, NC_000012.11:g.109504069_109504071dup, NC_000012.11:g.109504068_109504071dup, NC_000012.11:g.109504067_109504071dup, NC_000012.11:g.109504066_109504071dup, NC_000012.11:g.109504065_109504071dup, NC_000012.11:g.109504063_109504071dup
11.
rs1490971646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:109044330
(GRCh38)
12:109482135
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109044329:A:C
- Gene:
- USP30 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490961905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:109041943
(GRCh38)
12:109479748
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109041942:A:C
- Gene:
- USP30 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490940310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 12:109028456
(GRCh38)
12:109466261
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109028455:T:A,NC_000012.12:109028455:T:C,NC_000012.12:109028455:T:G
- Gene:
- USP30 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
14.
rs1490757045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:109059564
(GRCh38)
12:109497369
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109059563:A:C
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490731522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTT>-,GTTTTGTTTT
[Show Flanks]
- Chromosome:
- 12:109061954
(GRCh38)
12:109499759
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109061944:TTTTGTTTTGTTTT:TTTTGTTTT,NC_000012.12:109061944:TTTTGTTTTGTTTT:TTTTGTTTTGTTTTGTTTT
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTGTTTTGTTTTGTTTT=0./0
(
ALFA)
-=0.00047/3
(1000Genomes)
- HGVS:
17.
rs1490688360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:109024510
(GRCh38)
12:109462315
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109024509:G:A,NC_000012.12:109024509:G:T
- Gene:
- USP30 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1490666897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:109077356
(GRCh38)
12:109515161
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109077355:T:G
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490591542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:109060591
(GRCh38)
12:109498396
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109060590:T:C
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
20.
rs1490566343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATC>-
[Show Flanks]
- Chromosome:
- 12:109062827
(GRCh38)
12:109500632
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109062821:TCATCATC:TCATC
- Gene:
- USP30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCATC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: