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Select item 14915583351.

rs1491558335 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:93226792 (GRCh38)
14:93693138 (GRCh37)
Canonical SPDI:: NC_000014.9:93226791:CA:
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
-=0.0001/7 (GnomAD)
HGVS:: NC_000014.9:g.93226792_93226793del, NG_051089.1:g.24737_24738del, NT_187601.1:g.341354_341355del, NC_000014.8:g.93693138_93693139del

Select item 14915487612.

rs1491548761 has merged into rs55907535 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:93226798 (GRCh38)
14:93693144 (GRCh37)
Canonical SPDI:: NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93226792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAAA=0.1587/795 (1000Genomes)
AAAAAAAAAAAAA=0.3482/1342 (ALSPAC)
HGVS:: NC_000014.9:g.93226798_93226813del, NC_000014.9:g.93226801_93226813del, NC_000014.9:g.93226802_93226813del, NC_000014.9:g.93226804_93226813del, NC_000014.9:g.93226807_93226813del, NC_000014.9:g.93226809_93226813del, NC_000014.9:g.93226810_93226813del, NC_000014.9:g.93226811_93226813del, NC_000014.9:g.93226812_93226813del, NC_000014.9:g.93226813del, NC_000014.9:g.93226813dup, NC_000014.9:g.93226812_93226813dup, NC_000014.9:g.93226811_93226813dup, NC_000014.9:g.93226810_93226813dup, NC_000014.9:g.93226809_93226813dup, NC_000014.9:g.93226808_93226813dup, NC_000014.9:g.93226807_93226813dup, NC_000014.9:g.93226804_93226813dup, NG_051089.1:g.24743_24758del, NG_051089.1:g.24746_24758del, NG_051089.1:g.24747_24758del, NG_051089.1:g.24749_24758del, NG_051089.1:g.24752_24758del, NG_051089.1:g.24754_24758del, NG_051089.1:g.24755_24758del, NG_051089.1:g.24756_24758del, NG_051089.1:g.24757_24758del, NG_051089.1:g.24758del, NG_051089.1:g.24758dup, NG_051089.1:g.24757_24758dup, NG_051089.1:g.24756_24758dup, NG_051089.1:g.24755_24758dup, NG_051089.1:g.24754_24758dup, NG_051089.1:g.24753_24758dup, NG_051089.1:g.24752_24758dup, NG_051089.1:g.24749_24758dup, NT_187601.1:g.341360_341375del, NT_187601.1:g.341363_341375del, NT_187601.1:g.341364_341375del, NT_187601.1:g.341366_341375del, NT_187601.1:g.341369_341375del, NT_187601.1:g.341371_341375del, NT_187601.1:g.341372_341375del, NT_187601.1:g.341373_341375del, NT_187601.1:g.341374_341375del, NT_187601.1:g.341375del, NT_187601.1:g.341375dup, NT_187601.1:g.341374_341375dup, NT_187601.1:g.341373_341375dup, NT_187601.1:g.341372_341375dup, NT_187601.1:g.341371_341375dup, NT_187601.1:g.341370_341375dup, NT_187601.1:g.341369_341375dup, NT_187601.1:g.341366_341375dup, NC_000014.8:g.93693144_93693159del, NC_000014.8:g.93693147_93693159del, NC_000014.8:g.93693148_93693159del, NC_000014.8:g.93693150_93693159del, NC_000014.8:g.93693153_93693159del, NC_000014.8:g.93693155_93693159del, NC_000014.8:g.93693156_93693159del, NC_000014.8:g.93693157_93693159del, NC_000014.8:g.93693158_93693159del, NC_000014.8:g.93693159del, NC_000014.8:g.93693159dup, NC_000014.8:g.93693158_93693159dup, NC_000014.8:g.93693157_93693159dup, NC_000014.8:g.93693156_93693159dup, NC_000014.8:g.93693155_93693159dup, NC_000014.8:g.93693154_93693159dup, NC_000014.8:g.93693153_93693159dup, NC_000014.8:g.93693150_93693159dup

Select item 14914380313.

rs1491438031 has merged into rs528210789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:93220230 (GRCh38)
14:93686576 (GRCh37)
Canonical SPDI:: NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93220222:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.375/3 (KOREAN)
-=0.469848/2353 (1000Genomes)
HGVS:: NC_000014.9:g.93220230_93220240del, NC_000014.9:g.93220234_93220240del, NC_000014.9:g.93220235_93220240del, NC_000014.9:g.93220236_93220240del, NC_000014.9:g.93220237_93220240del, NC_000014.9:g.93220238_93220240del, NC_000014.9:g.93220239_93220240del, NC_000014.9:g.93220240del, NC_000014.9:g.93220240dup, NC_000014.9:g.93220239_93220240dup, NC_000014.9:g.93220238_93220240dup, NC_000014.9:g.93220237_93220240dup, NC_000014.9:g.93220236_93220240dup, NC_000014.9:g.93220235_93220240dup, NC_000014.9:g.93220234_93220240dup, NC_000014.9:g.93220233_93220240dup, NG_051089.1:g.18175_18185del, NG_051089.1:g.18179_18185del, NG_051089.1:g.18180_18185del, NG_051089.1:g.18181_18185del, NG_051089.1:g.18182_18185del, NG_051089.1:g.18183_18185del, NG_051089.1:g.18184_18185del, NG_051089.1:g.18185del, NG_051089.1:g.18185dup, NG_051089.1:g.18184_18185dup, NG_051089.1:g.18183_18185dup, NG_051089.1:g.18182_18185dup, NG_051089.1:g.18181_18185dup, NG_051089.1:g.18180_18185dup, NG_051089.1:g.18179_18185dup, NG_051089.1:g.18178_18185dup, NT_187601.1:g.334792_334802del, NT_187601.1:g.334796_334802del, NT_187601.1:g.334797_334802del, NT_187601.1:g.334798_334802del, NT_187601.1:g.334799_334802del, NT_187601.1:g.334800_334802del, NT_187601.1:g.334801_334802del, NT_187601.1:g.334802del, NT_187601.1:g.334802dup, NT_187601.1:g.334801_334802dup, NT_187601.1:g.334800_334802dup, NT_187601.1:g.334799_334802dup, NT_187601.1:g.334798_334802dup, NT_187601.1:g.334797_334802dup, NT_187601.1:g.334796_334802dup, NT_187601.1:g.334795_334802dup, NC_000014.8:g.93686576_93686586del, NC_000014.8:g.93686580_93686586del, NC_000014.8:g.93686581_93686586del, NC_000014.8:g.93686582_93686586del, NC_000014.8:g.93686583_93686586del, NC_000014.8:g.93686584_93686586del, NC_000014.8:g.93686585_93686586del, NC_000014.8:g.93686586del, NC_000014.8:g.93686586dup, NC_000014.8:g.93686585_93686586dup, NC_000014.8:g.93686584_93686586dup, NC_000014.8:g.93686583_93686586dup, NC_000014.8:g.93686582_93686586dup, NC_000014.8:g.93686581_93686586dup, NC_000014.8:g.93686580_93686586dup, NC_000014.8:g.93686579_93686586dup

Select item 14913809444.

rs1491380944 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 14:93220240 (GRCh38)
14:93686586 (GRCh37)
Canonical SPDI:: NC_000014.9:93220239:TC:
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.93220240_93220241del, NG_051089.1:g.18185_18186del, NT_187601.1:g.334802_334803del, NC_000014.8:g.93686586_93686587del

Select item 14913713055.

rs1491371305 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:93231103 (GRCh38)
14:93697449 (GRCh37)
Canonical SPDI:: NC_000014.9:93231102:TG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.93231103_93231104del, NG_051089.1:g.29048_29049del, NT_187601.1:g.345665_345666del, NC_000014.8:g.93697449_93697450del

Select item 14912916366.

rs1491291636 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:93210072 (GRCh38)
14:93676418 (GRCh37)
Canonical SPDI:: NC_000014.9:93210071:AA:
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000087/12 (GnomAD)
HGVS:: NC_000014.9:g.93210072_93210073del, NG_051089.1:g.8017_8018del, NT_187601.1:g.324634_324635del, NC_000014.8:g.93676418_93676419del

Select item 14910720617.

rs1491072061 has merged into rs34453404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:93223404 (GRCh38)
14:93689750 (GRCh37)
Canonical SPDI:: NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:93223394:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.93223404_93223414del, NC_000014.9:g.93223405_93223414del, NC_000014.9:g.93223406_93223414del, NC_000014.9:g.93223409_93223414del, NC_000014.9:g.93223410_93223414del, NC_000014.9:g.93223411_93223414del, NC_000014.9:g.93223412_93223414del, NC_000014.9:g.93223413_93223414del, NC_000014.9:g.93223414del, NC_000014.9:g.93223414dup, NC_000014.9:g.93223413_93223414dup, NC_000014.9:g.93223412_93223414dup, NC_000014.9:g.93223411_93223414dup, NC_000014.9:g.93223410_93223414dup, NC_000014.9:g.93223409_93223414dup, NC_000014.9:g.93223408_93223414dup, NC_000014.9:g.93223407_93223414dup, NG_051089.1:g.21349_21359del, NG_051089.1:g.21350_21359del, NG_051089.1:g.21351_21359del, NG_051089.1:g.21354_21359del, NG_051089.1:g.21355_21359del, NG_051089.1:g.21356_21359del, NG_051089.1:g.21357_21359del, NG_051089.1:g.21358_21359del, NG_051089.1:g.21359del, NG_051089.1:g.21359dup, NG_051089.1:g.21358_21359dup, NG_051089.1:g.21357_21359dup, NG_051089.1:g.21356_21359dup, NG_051089.1:g.21355_21359dup, NG_051089.1:g.21354_21359dup, NG_051089.1:g.21353_21359dup, NG_051089.1:g.21352_21359dup, NT_187601.1:g.337966_337976del, NT_187601.1:g.337967_337976del, NT_187601.1:g.337968_337976del, NT_187601.1:g.337971_337976del, NT_187601.1:g.337972_337976del, NT_187601.1:g.337973_337976del, NT_187601.1:g.337974_337976del, NT_187601.1:g.337975_337976del, NT_187601.1:g.337976del, NT_187601.1:g.337976dup, NT_187601.1:g.337975_337976dup, NT_187601.1:g.337974_337976dup, NT_187601.1:g.337973_337976dup, NT_187601.1:g.337972_337976dup, NT_187601.1:g.337971_337976dup, NT_187601.1:g.337970_337976dup, NT_187601.1:g.337969_337976dup, NC_000014.8:g.93689750_93689760del, NC_000014.8:g.93689751_93689760del, NC_000014.8:g.93689752_93689760del, NC_000014.8:g.93689755_93689760del, NC_000014.8:g.93689756_93689760del, NC_000014.8:g.93689757_93689760del, NC_000014.8:g.93689758_93689760del, NC_000014.8:g.93689759_93689760del, NC_000014.8:g.93689760del, NC_000014.8:g.93689760dup, NC_000014.8:g.93689759_93689760dup, NC_000014.8:g.93689758_93689760dup, NC_000014.8:g.93689757_93689760dup, NC_000014.8:g.93689756_93689760dup, NC_000014.8:g.93689755_93689760dup, NC_000014.8:g.93689754_93689760dup, NC_000014.8:g.93689753_93689760dup

Select item 14909982928.

rs1490998292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:93217473 (GRCh38)
14:93683819 (GRCh37)
Canonical SPDI:: NC_000014.9:93217472:C:T
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.93217473C>T, NG_051089.1:g.15418C>T, NT_187601.1:g.332035C>T, NC_000014.8:g.93683819C>T

Select item 14909700439.

rs1490970043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:93202381 (GRCh38)
14:93668726 (GRCh37)
Canonical SPDI:: NC_000014.9:93202380:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.93202381A>G, NG_051089.1:g.326A>G, NT_187601.1:g.316943A>G, NC_000014.8:g.93668726A>G

Select item 149083952210.

rs1490839522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:93215236 (GRCh38)
14:93681582 (GRCh37)
Canonical SPDI:: NC_000014.9:93215235:A:G,NC_000014.9:93215235:A:T
Gene:: UBR7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000014.9:g.93215236A>G, NC_000014.9:g.93215236A>T, NG_051089.1:g.13181A>G, NG_051089.1:g.13181A>T, NM_175748.4:c.556A>G, NM_175748.4:c.556A>T, NM_175748.3:c.556A>G, NM_175748.3:c.556A>T, NR_038150.2:n.458A>G, NR_038150.2:n.458A>T, NR_038150.1:n.658A>G, NR_038150.1:n.658A>T, NT_187601.1:g.329798A>G, NT_187601.1:g.329798A>T, NC_000014.8:g.93681582A>G, NC_000014.8:g.93681582A>T, NM_018108.2:c.103A>G, NM_018108.2:c.103A>T, NM_001100417.1:c.328A>G, NM_001100417.1:c.328A>T, NM_018108.1:c.103A>G, NM_018108.1:c.103A>T, NP_786924.2:p.Met186Val, NP_786924.2:p.Met186Leu

Select item 149058333311.

rs1490583333 has merged into rs761189322 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:93224382 (GRCh38)
14:93690728 (GRCh37)
Canonical SPDI:: NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:93224372:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.93224382_93224396del, NC_000014.9:g.93224383_93224396del, NC_000014.9:g.93224384_93224396del, NC_000014.9:g.93224385_93224396del, NC_000014.9:g.93224386_93224396del, NC_000014.9:g.93224387_93224396del, NC_000014.9:g.93224388_93224396del, NC_000014.9:g.93224389_93224396del, NC_000014.9:g.93224390_93224396del, NC_000014.9:g.93224391_93224396del, NC_000014.9:g.93224392_93224396del, NC_000014.9:g.93224393_93224396del, NC_000014.9:g.93224394_93224396del, NC_000014.9:g.93224395_93224396del, NC_000014.9:g.93224396del, NC_000014.9:g.93224396dup, NC_000014.9:g.93224395_93224396dup, NC_000014.9:g.93224394_93224396dup, NC_000014.9:g.93224393_93224396dup, NC_000014.9:g.93224392_93224396dup, NC_000014.9:g.93224391_93224396dup, NC_000014.9:g.93224390_93224396dup, NC_000014.9:g.93224389_93224396dup, NC_000014.9:g.93224388_93224396dup, NC_000014.9:g.93224387_93224396dup, NC_000014.9:g.93224379_93224396dup, NC_000014.9:g.93224378_93224396dup, NC_000014.9:g.93224374_93224396dup, NC_000014.9:g.93224396_93224397insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.93224396_93224397insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051089.1:g.22327_22341del, NG_051089.1:g.22328_22341del, NG_051089.1:g.22329_22341del, NG_051089.1:g.22330_22341del, NG_051089.1:g.22331_22341del, NG_051089.1:g.22332_22341del, NG_051089.1:g.22333_22341del, NG_051089.1:g.22334_22341del, NG_051089.1:g.22335_22341del, NG_051089.1:g.22336_22341del, NG_051089.1:g.22337_22341del, NG_051089.1:g.22338_22341del, NG_051089.1:g.22339_22341del, NG_051089.1:g.22340_22341del, NG_051089.1:g.22341del, NG_051089.1:g.22341dup, NG_051089.1:g.22340_22341dup, NG_051089.1:g.22339_22341dup, NG_051089.1:g.22338_22341dup, NG_051089.1:g.22337_22341dup, NG_051089.1:g.22336_22341dup, NG_051089.1:g.22335_22341dup, NG_051089.1:g.22334_22341dup, NG_051089.1:g.22333_22341dup, NG_051089.1:g.22332_22341dup, NG_051089.1:g.22324_22341dup, NG_051089.1:g.22323_22341dup, NG_051089.1:g.22319_22341dup, NG_051089.1:g.22341_22342insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051089.1:g.22341_22342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187601.1:g.338944_338958del, NT_187601.1:g.338945_338958del, NT_187601.1:g.338946_338958del, NT_187601.1:g.338947_338958del, NT_187601.1:g.338948_338958del, NT_187601.1:g.338949_338958del, NT_187601.1:g.338950_338958del, NT_187601.1:g.338951_338958del, NT_187601.1:g.338952_338958del, NT_187601.1:g.338953_338958del, NT_187601.1:g.338954_338958del, NT_187601.1:g.338955_338958del, NT_187601.1:g.338956_338958del, NT_187601.1:g.338957_338958del, NT_187601.1:g.338958del, NT_187601.1:g.338958dup, NT_187601.1:g.338957_338958dup, NT_187601.1:g.338956_338958dup, NT_187601.1:g.338955_338958dup, NT_187601.1:g.338954_338958dup, NT_187601.1:g.338953_338958dup, NT_187601.1:g.338952_338958dup, NT_187601.1:g.338951_338958dup, NT_187601.1:g.338950_338958dup, NT_187601.1:g.338949_338958dup, NT_187601.1:g.338941_338958dup, NT_187601.1:g.338940_338958dup, NT_187601.1:g.338936_338958dup, NT_187601.1:g.338958_338959insTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187601.1:g.338958_338959insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.93690728_93690742del, NC_000014.8:g.93690729_93690742del, NC_000014.8:g.93690730_93690742del, NC_000014.8:g.93690731_93690742del, NC_000014.8:g.93690732_93690742del, NC_000014.8:g.93690733_93690742del, NC_000014.8:g.93690734_93690742del, NC_000014.8:g.93690735_93690742del, NC_000014.8:g.93690736_93690742del, NC_000014.8:g.93690737_93690742del, NC_000014.8:g.93690738_93690742del, NC_000014.8:g.93690739_93690742del, NC_000014.8:g.93690740_93690742del, NC_000014.8:g.93690741_93690742del, NC_000014.8:g.93690742del, NC_000014.8:g.93690742dup, NC_000014.8:g.93690741_93690742dup, NC_000014.8:g.93690740_93690742dup, NC_000014.8:g.93690739_93690742dup, NC_000014.8:g.93690738_93690742dup, NC_000014.8:g.93690737_93690742dup, NC_000014.8:g.93690736_93690742dup, NC_000014.8:g.93690735_93690742dup, NC_000014.8:g.93690734_93690742dup, NC_000014.8:g.93690733_93690742dup, NC_000014.8:g.93690725_93690742dup, NC_000014.8:g.93690724_93690742dup, NC_000014.8:g.93690720_93690742dup, NC_000014.8:g.93690742_93690743insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.93690742_93690743insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149053515012.

rs1490535150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:93208646 (GRCh38)
14:93674992 (GRCh37)
Canonical SPDI:: NC_000014.9:93208645:A:G
Gene:: UBR7 (Varview), GON7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.93208646A>G, NG_051089.1:g.6591A>G, NT_187601.1:g.323208A>G, NC_000014.8:g.93674992A>G

Select item 149044161213.

rs1490441612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:93206029 (GRCh38)
14:93672374 (GRCh37)
Canonical SPDI:: NC_000014.9:93206028:G:A
Gene:: UBR7 (Varview), GON7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000014.9:g.93206029G>A, NG_051089.1:g.3974G>A, NT_187601.1:g.320591G>A, NC_000014.8:g.93672374G>A

Select item 149026921214.

rs1490269212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:93218766 (GRCh38)
14:93685112 (GRCh37)
Canonical SPDI:: NC_000014.9:93218765:T:A
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.93218766T>A, NG_051089.1:g.16711T>A, NT_187601.1:g.333328T>A, NC_000014.8:g.93685112T>A

Select item 149020750415.

rs1490207504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:93221915 (GRCh38)
14:93688261 (GRCh37)
Canonical SPDI:: NC_000014.9:93221914:C:T
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.00046/8 (TOMMO)
HGVS:: NC_000014.9:g.93221915C>T, NG_051089.1:g.19860C>T, NT_187601.1:g.336477C>T, NC_000014.8:g.93688261C>T

Select item 149015104816.

rs1490151048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:93202759 (GRCh38)
14:93669104 (GRCh37)
Canonical SPDI:: NC_000014.9:93202758:A:G
Gene:: GON7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.93202759A>G, NG_051089.1:g.704A>G, NT_187601.1:g.317321A>G, NC_000014.8:g.93669104A>G

Select item 149004225417.

rs1490042254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:93219054 (GRCh38)
14:93685400 (GRCh37)
Canonical SPDI:: NC_000014.9:93219053:C:A
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00092/15 (ALFA)
A=0.02019/59 (KOREAN)
HGVS:: NC_000014.9:g.93219054C>A, NG_051089.1:g.16999C>A, NT_187601.1:g.333616C>A, NC_000014.8:g.93685400C>A

Select item 149000095418.

rs1490000954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:93225830 (GRCh38)
14:93692176 (GRCh37)
Canonical SPDI:: NC_000014.9:93225829:C:G,NC_000014.9:93225829:C:T
Gene:: UBR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.93225830C>G, NC_000014.9:g.93225830C>T, NG_051089.1:g.23775C>G, NG_051089.1:g.23775C>T, NT_187601.1:g.340392C>G, NT_187601.1:g.340392C>T, NC_000014.8:g.93692176C>G, NC_000014.8:g.93692176C>T

Select item 148994978019.

rs1489949780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:93204795 (GRCh38)
14:93671140 (GRCh37)
Canonical SPDI:: NC_000014.9:93204794:A:G,NC_000014.9:93204794:A:T
Gene:: GON7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.93204795A>G, NC_000014.9:g.93204795A>T, NG_051089.1:g.2740A>G, NG_051089.1:g.2740A>T, NT_187601.1:g.319357A>G, NT_187601.1:g.319357A>T, NC_000014.8:g.93671140A>G, NC_000014.8:g.93671140A>T

Select item 148978635620.

rs1489786356 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:93219300 (GRCh38)
14:93685647 (GRCh37)
Canonical SPDI:: NC_000014.9:93219300:C:CC
Gene:: UBR7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000014.9:g.93219301dup, NG_051089.1:g.17246dup, NM_175748.4:c.900dup, NM_175748.3:c.900dup, NR_038150.2:n.802dup, NR_038150.1:n.1002dup, NT_187601.1:g.333863dup, NC_000014.8:g.93685647dup, NM_018108.2:c.447dup, NM_001100417.1:c.672dup, NM_018108.1:c.447dup, NP_786924.2:p.Thr301fs

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