SNP Links for Gene (Select 80224) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915746931.

rs1491574693 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:31798791 (GRCh38)
14:32267997 (GRCh37)
Canonical SPDI:: NC_000014.9:31798790:CA:
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.31798791_31798792del, NC_000014.8:g.32267997_32267998del, NG_028349.1:g.242407_242408del

Select item 14915739882.

rs1491573988 has merged into rs1211411877 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:31669807 (GRCh38)
14:32139013 (GRCh37)
Canonical SPDI:: NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT,NC_000014.9:31669797:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.31669807_31669808del, NC_000014.9:g.31669808del, NC_000014.9:g.31669808dup, NC_000014.9:g.31669807_31669808dup, NC_000014.9:g.31669806_31669808dup, NC_000014.9:g.31669805_31669808dup, NC_000014.9:g.31669804_31669808dup, NC_000014.9:g.31669803_31669808dup, NC_000014.9:g.31669802_31669808dup, NC_000014.9:g.31669801_31669808dup, NC_000014.9:g.31669800_31669808dup, NC_000014.9:g.31669799_31669808dup, NC_000014.9:g.31669798_31669808dup, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.31669798_31669808T[37]GTTTTTTTTTTTT[1], NC_000014.9:g.31669808_31669809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139013_32139014del, NC_000014.8:g.32139014del, NC_000014.8:g.32139014dup, NC_000014.8:g.32139013_32139014dup, NC_000014.8:g.32139012_32139014dup, NC_000014.8:g.32139011_32139014dup, NC_000014.8:g.32139010_32139014dup, NC_000014.8:g.32139009_32139014dup, NC_000014.8:g.32139008_32139014dup, NC_000014.8:g.32139007_32139014dup, NC_000014.8:g.32139006_32139014dup, NC_000014.8:g.32139005_32139014dup, NC_000014.8:g.32139004_32139014dup, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32139004_32139014T[37]GTTTTTTTTTTTT[1], NC_000014.8:g.32139014_32139015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.113423_113424del, NG_028349.1:g.113424del, NG_028349.1:g.113424dup, NG_028349.1:g.113423_113424dup, NG_028349.1:g.113422_113424dup, NG_028349.1:g.113421_113424dup, NG_028349.1:g.113420_113424dup, NG_028349.1:g.113419_113424dup, NG_028349.1:g.113418_113424dup, NG_028349.1:g.113417_113424dup, NG_028349.1:g.113416_113424dup, NG_028349.1:g.113415_113424dup, NG_028349.1:g.113414_113424dup, NG_028349.1:g.113424_113425insTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.113414_113424T[37]GTTTTTTTTTTTT[1], NG_028349.1:g.113424_113425insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915565543.

rs1491556554 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:31825680 (GRCh38)
14:32294886 (GRCh37)
Canonical SPDI:: NC_000014.9:31825676:TCTCT:TCT
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.31825678CT[1], NC_000014.8:g.32294884CT[1], NG_028349.1:g.269294CT[1]

Select item 14915503694.

rs1491550369 has merged into rs35016391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 14:31729296 (GRCh38)
14:32198502 (GRCh37)
Canonical SPDI:: NC_000014.9:31729288:AAAAAAAAA:AAAAAAA,NC_000014.9:31729288:AAAAAAAAA:AAAAAAAA,NC_000014.9:31729288:AAAAAAAAA:AAAAAAAAAA
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000014.9:g.31729296_31729297del, NC_000014.9:g.31729297del, NC_000014.9:g.31729297dup, NC_000014.8:g.32198502_32198503del, NC_000014.8:g.32198503del, NC_000014.8:g.32198503dup, NG_028349.1:g.172912_172913del, NG_028349.1:g.172913del, NG_028349.1:g.172913dup

Select item 14915499915.

rs1491549991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTTT,GTTT,GTTTTTGTTT [Show Flanks]
Chromosome:: 14:31841918 (GRCh38)
14:32311125 (GRCh37)
Canonical SPDI:: NC_000014.9:31841918:TTT:TTTGGTTT,NC_000014.9:31841918:TTT:TTTGTTT,NC_000014.9:31841918:TTT:TTTGTTTTTGTTT
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTT=0./0 (ALFA)
TTTGTTTTTG=0.0035/2 (NorthernSweden)
TTTGTTTTTG=0.03587/464 (TOMMO)
HGVS:: NC_000014.9:g.31841921_31841922insGGTTT, NC_000014.9:g.31841921_31841922insGTTT, NC_000014.9:g.31841919_31841921TTTGTT[2]T[1], NC_000014.8:g.32311127_32311128insGGTTT, NC_000014.8:g.32311127_32311128insGTTT, NC_000014.8:g.32311125_32311127TTTGTT[2]T[1], NG_028349.1:g.285537_285538insGGTTT, NG_028349.1:g.285537_285538insGTTT, NG_028349.1:g.285535_285537TTTGTT[2]T[1]

Select item 14915476346.

rs1491547634 has merged into rs528403331 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 14:31754703 (GRCh38)
14:32223909 (GRCh37)
Canonical SPDI:: NC_000014.9:31754696:TTTTTTTT:TTTTTT,NC_000014.9:31754696:TTTTTTTT:TTTTTTT,NC_000014.9:31754696:TTTTTTTT:TTTTTTTTT
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.04918/3 (1000Genomes)
HGVS:: NC_000014.9:g.31754703_31754704del, NC_000014.9:g.31754704del, NC_000014.9:g.31754704dup, NC_000014.8:g.32223909_32223910del, NC_000014.8:g.32223910del, NC_000014.8:g.32223910dup, NG_028349.1:g.198319_198320del, NG_028349.1:g.198320del, NG_028349.1:g.198320dup

Select item 14915144347.

rs1491514434 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:31742280 (GRCh38)
14:32211486 (GRCh37)
Canonical SPDI:: NC_000014.9:31742279:AT:
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.31742280_31742281del, NC_000014.8:g.32211486_32211487del, NG_028349.1:g.185896_185897del

Select item 14914957878.

rs1491495787 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:31798303 (GRCh38)
14:32267509 (GRCh37)
Canonical SPDI:: NC_000014.9:31798302:GT:
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.06837/811 (ALFA)
-=0.12316/11187 (GnomAD)
HGVS:: NC_000014.9:g.31798303_31798304del, NC_000014.8:g.32267509_32267510del, NG_028349.1:g.241919_241920del

Select item 14914785789.

rs1491478578 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTTTG
Chromosome:: no mapping
Canonical SPDI:

Select item 149147201210.

rs1491472012 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:31669797 (GRCh38)
14:32139003 (GRCh37)
Canonical SPDI:: NC_000014.9:31669796:GT:
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.31669797_31669798del, NC_000014.8:g.32139003_32139004del, NG_028349.1:g.113413_113414del

Select item 149144589411.

rs1491445894 has merged into rs60070958 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:31693811 (GRCh38)
14:32163017 (GRCh37)
Canonical SPDI:: NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31693800:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUBPL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.31693811_31693823del, NC_000014.9:g.31693814_31693823del, NC_000014.9:g.31693815_31693823del, NC_000014.9:g.31693816_31693823del, NC_000014.9:g.31693818_31693823del, NC_000014.9:g.31693820_31693823del, NC_000014.9:g.31693821_31693823del, NC_000014.9:g.31693822_31693823del, NC_000014.9:g.31693823del, NC_000014.9:g.31693823dup, NC_000014.9:g.31693822_31693823dup, NC_000014.9:g.31693821_31693823dup, NC_000014.9:g.31693820_31693823dup, NC_000014.9:g.31693819_31693823dup, NC_000014.9:g.31693817_31693823dup, NC_000014.9:g.31693816_31693823dup, NC_000014.9:g.31693814_31693823dup, NC_000014.9:g.31693813_31693823dup, NC_000014.9:g.31693803_31693823dup, NC_000014.8:g.32163017_32163029del, NC_000014.8:g.32163020_32163029del, NC_000014.8:g.32163021_32163029del, NC_000014.8:g.32163022_32163029del, NC_000014.8:g.32163024_32163029del, NC_000014.8:g.32163026_32163029del, NC_000014.8:g.32163027_32163029del, NC_000014.8:g.32163028_32163029del, NC_000014.8:g.32163029del, NC_000014.8:g.32163029dup, NC_000014.8:g.32163028_32163029dup, NC_000014.8:g.32163027_32163029dup, NC_000014.8:g.32163026_32163029dup, NC_000014.8:g.32163025_32163029dup, NC_000014.8:g.32163023_32163029dup, NC_000014.8:g.32163022_32163029dup, NC_000014.8:g.32163020_32163029dup, NC_000014.8:g.32163019_32163029dup, NC_000014.8:g.32163009_32163029dup, NG_028349.1:g.137427_137439del, NG_028349.1:g.137430_137439del, NG_028349.1:g.137431_137439del, NG_028349.1:g.137432_137439del, NG_028349.1:g.137434_137439del, NG_028349.1:g.137436_137439del, NG_028349.1:g.137437_137439del, NG_028349.1:g.137438_137439del, NG_028349.1:g.137439del, NG_028349.1:g.137439dup, NG_028349.1:g.137438_137439dup, NG_028349.1:g.137437_137439dup, NG_028349.1:g.137436_137439dup, NG_028349.1:g.137435_137439dup, NG_028349.1:g.137433_137439dup, NG_028349.1:g.137432_137439dup, NG_028349.1:g.137430_137439dup, NG_028349.1:g.137429_137439dup, NG_028349.1:g.137419_137439dup, XM_017021664.2:c.*12688_*12700del, XM_017021664.2:c.*12691_*12700del, XM_017021664.2:c.*12692_*12700del, XM_017021664.2:c.*12693_*12700del, XM_017021664.2:c.*12695_*12700del, XM_017021664.2:c.*12697_*12700del, XM_017021664.2:c.*12698_*12700del, XM_017021664.2:c.*12699_*12700del, XM_017021664.2:c.*12700del, XM_017021664.2:c.*12700dup, XM_017021664.2:c.*12699_*12700dup, XM_017021664.2:c.*12698_*12700dup, XM_017021664.2:c.*12697_*12700dup, XM_017021664.2:c.*12696_*12700dup, XM_017021664.2:c.*12694_*12700dup, XM_017021664.2:c.*12693_*12700dup, XM_017021664.2:c.*12691_*12700dup, XM_017021664.2:c.*12690_*12700dup, XM_017021664.2:c.*12680_*12700dup

Select item 149144327612.

rs1491443276 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:31588418 (GRCh38)
14:32057625 (GRCh37)
Canonical SPDI:: NC_000014.9:31588418::C
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.31588418_31588419insC, NC_000014.8:g.32057624_32057625insC, NG_028349.1:g.32034_32035insC

Select item 149144194413.

rs1491441944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:31666229 (GRCh38)
14:32135436 (GRCh37)
Canonical SPDI:: NC_000014.9:31666229:T:TT
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.31666230dup, NC_000014.8:g.32135436dup, NG_028349.1:g.109846dup

Select item 149143655314.

rs1491436553 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:31750342 (GRCh38)
14:32219548 (GRCh37)
Canonical SPDI:: NC_000014.9:31750341:AT:
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000014.9:g.31750342_31750343del, NC_000014.8:g.32219548_32219549del, NG_028349.1:g.193958_193959del

Select item 149142946815.

rs1491429468 has merged into rs35462177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 14:31739228 (GRCh38)
14:32208434 (GRCh37)
Canonical SPDI:: NC_000014.9:31739218:TATATATATATATAT:TATATATAT,NC_000014.9:31739218:TATATATATATATAT:TATATATATAT,NC_000014.9:31739218:TATATATATATATAT:TATATATATATAT,NC_000014.9:31739218:TATATATATATATAT:TATATATATATATATAT,NC_000014.9:31739218:TATATATATATATAT:TATATATATATATATATAT
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.0192/34 (Korea1K)
TA=0.1111/4 (GENOME_DK)
TA=0.1154/578 (1000Genomes)
TA=0.17/102 (NorthernSweden)
HGVS:: NC_000014.9:g.31739220AT[4], NC_000014.9:g.31739220AT[5], NC_000014.9:g.31739220AT[6], NC_000014.9:g.31739220AT[8], NC_000014.9:g.31739220AT[9], NC_000014.8:g.32208426AT[4], NC_000014.8:g.32208426AT[5], NC_000014.8:g.32208426AT[6], NC_000014.8:g.32208426AT[8], NC_000014.8:g.32208426AT[9], NG_028349.1:g.182836AT[4], NG_028349.1:g.182836AT[5], NG_028349.1:g.182836AT[6], NG_028349.1:g.182836AT[8], NG_028349.1:g.182836AT[9]

Select item 149140719916.

rs1491407199 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:31593513 (GRCh38)
14:32062719 (GRCh37)
Canonical SPDI:: NC_000014.9:31593512:CA:
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00185/22 (ALFA)
-=0.00363/98 (TOMMO)
HGVS:: NC_000014.9:g.31593513_31593514del, NC_000014.8:g.32062719_32062720del, NG_028349.1:g.37129_37130del

Select item 149139903917.

rs1491399039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 14:31672271 (GRCh38)
14:32141478 (GRCh37)
Canonical SPDI:: NC_000014.9:31672271:T:TGT,NC_000014.9:31672271:T:TGTGT,NC_000014.9:31672271:T:TGTGTGT,NC_000014.9:31672271:T:TGTGTGTGTGT
Gene:: NUBPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.31672272_31672273insGT, NC_000014.9:g.31672272_31672273insGTGT, NC_000014.9:g.31672273GT[3], NC_000014.9:g.31672273GT[5], NC_000014.8:g.32141478_32141479insGT, NC_000014.8:g.32141478_32141479insGTGT, NC_000014.8:g.32141479GT[3], NC_000014.8:g.32141479GT[5], NG_028349.1:g.115888_115889insGT, NG_028349.1:g.115888_115889insGTGT, NG_028349.1:g.115889GT[3], NG_028349.1:g.115889GT[5]

Select item 149139333718.

rs1491393337 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:31562605 (GRCh38)
14:32031812 (GRCh37)
Canonical SPDI:: NC_000014.9:31562605::G
Gene:: NUBPL (Varview), NUBPL-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000014.9:g.31562605_31562606insG, NC_000014.8:g.32031811_32031812insG, NG_028349.1:g.6221_6222insG

Select item 149139142919.

rs1491391429 has merged into rs547795007 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:31841930 (GRCh38)
14:32311136 (GRCh37)
Canonical SPDI:: NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31841917:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUBPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.31841930_31841948del, NC_000014.9:g.31841932_31841948del, NC_000014.9:g.31841933_31841948del, NC_000014.9:g.31841934_31841948del, NC_000014.9:g.31841935_31841948del, NC_000014.9:g.31841936_31841948del, NC_000014.9:g.31841937_31841948del, NC_000014.9:g.31841938_31841948del, NC_000014.9:g.31841939_31841948del, NC_000014.9:g.31841940_31841948del, NC_000014.9:g.31841941_31841948del, NC_000014.9:g.31841942_31841948del, NC_000014.9:g.31841943_31841948del, NC_000014.9:g.31841944_31841948del, NC_000014.9:g.31841945_31841948del, NC_000014.9:g.31841946_31841948del, NC_000014.9:g.31841947_31841948del, NC_000014.9:g.31841948del, NC_000014.9:g.31841948dup, NC_000014.9:g.31841947_31841948dup, NC_000014.9:g.31841946_31841948dup, NC_000014.9:g.31841945_31841948dup, NC_000014.9:g.31841944_31841948dup, NC_000014.9:g.31841943_31841948dup, NC_000014.9:g.31841941_31841948dup, NC_000014.9:g.31841940_31841948dup, NC_000014.9:g.31841939_31841948dup, NC_000014.9:g.31841938_31841948dup, NC_000014.9:g.31841937_31841948dup, NC_000014.9:g.31841936_31841948dup, NC_000014.9:g.31841935_31841948dup, NC_000014.9:g.31841934_31841948dup, NC_000014.9:g.31841932_31841948dup, NC_000014.9:g.31841931_31841948dup, NC_000014.9:g.31841930_31841948dup, NC_000014.9:g.31841948_31841949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.31841948_31841949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32311136_32311154del, NC_000014.8:g.32311138_32311154del, NC_000014.8:g.32311139_32311154del, NC_000014.8:g.32311140_32311154del, NC_000014.8:g.32311141_32311154del, NC_000014.8:g.32311142_32311154del, NC_000014.8:g.32311143_32311154del, NC_000014.8:g.32311144_32311154del, NC_000014.8:g.32311145_32311154del, NC_000014.8:g.32311146_32311154del, NC_000014.8:g.32311147_32311154del, NC_000014.8:g.32311148_32311154del, NC_000014.8:g.32311149_32311154del, NC_000014.8:g.32311150_32311154del, NC_000014.8:g.32311151_32311154del, NC_000014.8:g.32311152_32311154del, NC_000014.8:g.32311153_32311154del, NC_000014.8:g.32311154del, NC_000014.8:g.32311154dup, NC_000014.8:g.32311153_32311154dup, NC_000014.8:g.32311152_32311154dup, NC_000014.8:g.32311151_32311154dup, NC_000014.8:g.32311150_32311154dup, NC_000014.8:g.32311149_32311154dup, NC_000014.8:g.32311147_32311154dup, NC_000014.8:g.32311146_32311154dup, NC_000014.8:g.32311145_32311154dup, NC_000014.8:g.32311144_32311154dup, NC_000014.8:g.32311143_32311154dup, NC_000014.8:g.32311142_32311154dup, NC_000014.8:g.32311141_32311154dup, NC_000014.8:g.32311140_32311154dup, NC_000014.8:g.32311138_32311154dup, NC_000014.8:g.32311137_32311154dup, NC_000014.8:g.32311136_32311154dup, NC_000014.8:g.32311154_32311155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.32311154_32311155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.285546_285564del, NG_028349.1:g.285548_285564del, NG_028349.1:g.285549_285564del, NG_028349.1:g.285550_285564del, NG_028349.1:g.285551_285564del, NG_028349.1:g.285552_285564del, NG_028349.1:g.285553_285564del, NG_028349.1:g.285554_285564del, NG_028349.1:g.285555_285564del, NG_028349.1:g.285556_285564del, NG_028349.1:g.285557_285564del, NG_028349.1:g.285558_285564del, NG_028349.1:g.285559_285564del, NG_028349.1:g.285560_285564del, NG_028349.1:g.285561_285564del, NG_028349.1:g.285562_285564del, NG_028349.1:g.285563_285564del, NG_028349.1:g.285564del, NG_028349.1:g.285564dup, NG_028349.1:g.285563_285564dup, NG_028349.1:g.285562_285564dup, NG_028349.1:g.285561_285564dup, NG_028349.1:g.285560_285564dup, NG_028349.1:g.285559_285564dup, NG_028349.1:g.285557_285564dup, NG_028349.1:g.285556_285564dup, NG_028349.1:g.285555_285564dup, NG_028349.1:g.285554_285564dup, NG_028349.1:g.285553_285564dup, NG_028349.1:g.285552_285564dup, NG_028349.1:g.285551_285564dup, NG_028349.1:g.285550_285564dup, NG_028349.1:g.285548_285564dup, NG_028349.1:g.285547_285564dup, NG_028349.1:g.285546_285564dup, NG_028349.1:g.285564_285565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028349.1:g.285564_285565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149138221220.

rs1491382212 has merged into rs1164176250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:31798800 (GRCh38)
14:32268006 (GRCh37)
Canonical SPDI:: NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:31798791:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUBPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.31798800_31798817del, NC_000014.9:g.31798801_31798817del, NC_000014.9:g.31798802_31798817del, NC_000014.9:g.31798803_31798817del, NC_000014.9:g.31798804_31798817del, NC_000014.9:g.31798805_31798817del, NC_000014.9:g.31798806_31798817del, NC_000014.9:g.31798807_31798817del, NC_000014.9:g.31798808_31798817del, NC_000014.9:g.31798809_31798817del, NC_000014.9:g.31798810_31798817del, NC_000014.9:g.31798811_31798817del, NC_000014.9:g.31798812_31798817del, NC_000014.9:g.31798813_31798817del, NC_000014.9:g.31798814_31798817del, NC_000014.9:g.31798815_31798817del, NC_000014.9:g.31798816_31798817del, NC_000014.9:g.31798817del, NC_000014.9:g.31798817dup, NC_000014.9:g.31798816_31798817dup, NC_000014.9:g.31798815_31798817dup, NC_000014.9:g.31798814_31798817dup, NC_000014.9:g.31798813_31798817dup, NC_000014.9:g.31798812_31798817dup, NC_000014.9:g.31798811_31798817dup, NC_000014.9:g.31798810_31798817dup, NC_000014.8:g.32268006_32268023del, NC_000014.8:g.32268007_32268023del, NC_000014.8:g.32268008_32268023del, NC_000014.8:g.32268009_32268023del, NC_000014.8:g.32268010_32268023del, NC_000014.8:g.32268011_32268023del, NC_000014.8:g.32268012_32268023del, NC_000014.8:g.32268013_32268023del, NC_000014.8:g.32268014_32268023del, NC_000014.8:g.32268015_32268023del, NC_000014.8:g.32268016_32268023del, NC_000014.8:g.32268017_32268023del, NC_000014.8:g.32268018_32268023del, NC_000014.8:g.32268019_32268023del, NC_000014.8:g.32268020_32268023del, NC_000014.8:g.32268021_32268023del, NC_000014.8:g.32268022_32268023del, NC_000014.8:g.32268023del, NC_000014.8:g.32268023dup, NC_000014.8:g.32268022_32268023dup, NC_000014.8:g.32268021_32268023dup, NC_000014.8:g.32268020_32268023dup, NC_000014.8:g.32268019_32268023dup, NC_000014.8:g.32268018_32268023dup, NC_000014.8:g.32268017_32268023dup, NC_000014.8:g.32268016_32268023dup, NG_028349.1:g.242416_242433del, NG_028349.1:g.242417_242433del, NG_028349.1:g.242418_242433del, NG_028349.1:g.242419_242433del, NG_028349.1:g.242420_242433del, NG_028349.1:g.242421_242433del, NG_028349.1:g.242422_242433del, NG_028349.1:g.242423_242433del, NG_028349.1:g.242424_242433del, NG_028349.1:g.242425_242433del, NG_028349.1:g.242426_242433del, NG_028349.1:g.242427_242433del, NG_028349.1:g.242428_242433del, NG_028349.1:g.242429_242433del, NG_028349.1:g.242430_242433del, NG_028349.1:g.242431_242433del, NG_028349.1:g.242432_242433del, NG_028349.1:g.242433del, NG_028349.1:g.242433dup, NG_028349.1:g.242432_242433dup, NG_028349.1:g.242431_242433dup, NG_028349.1:g.242430_242433dup, NG_028349.1:g.242429_242433dup, NG_028349.1:g.242428_242433dup, NG_028349.1:g.242427_242433dup, NG_028349.1:g.242426_242433dup

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity