SNP Links for Gene (Select 5108) - SNP

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Select item 14915498561.

rs1491549856 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:18011393 (GRCh38)
8:17868902 (GRCh37)
Canonical SPDI:: NC_000008.11:18011391:TTT:T
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000013/2 (GnomAD_exomes)
-=0.000015/1 (ExAC)
HGVS:: NC_000008.11:g.18011393_18011394del, NC_000008.10:g.17868902_17868903del, NG_027690.2:g.93407_93408del, NG_027690.1:g.93537_93538del

Select item 14915387532.

rs1491538753 [Homo sapiens]

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

Select item 14915355533.

rs1491535553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:17930121 (GRCh38)
8:17787631 (GRCh37)
Canonical SPDI:: NC_000008.11:17930121:G:GG
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.17930122dup, NC_000008.10:g.17787631dup, NG_027690.2:g.12136dup, NG_027690.1:g.12266dup

Select item 14915354814.

rs1491535481 has merged into rs368892136 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:17946845 (GRCh38)
8:17804354 (GRCh37)
Canonical SPDI:: NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:17946832:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.17946833GT[6], NC_000008.11:g.17946833GT[7], NC_000008.11:g.17946833GT[8], NC_000008.11:g.17946833GT[9], NC_000008.11:g.17946833GT[10], NC_000008.11:g.17946833GT[11], NC_000008.11:g.17946833GT[12], NC_000008.11:g.17946833GT[13], NC_000008.11:g.17946833GT[14], NC_000008.11:g.17946833GT[15], NC_000008.11:g.17946833GT[16], NC_000008.11:g.17946833GT[17], NC_000008.11:g.17946833GT[18], NC_000008.11:g.17946833GT[19], NC_000008.11:g.17946833GT[21], NC_000008.11:g.17946833GT[22], NC_000008.11:g.17946833GT[23], NC_000008.11:g.17946833GT[24], NC_000008.11:g.17946833GT[25], NC_000008.11:g.17946833GT[26], NC_000008.11:g.17946833GT[27], NC_000008.11:g.17946833GT[28], NC_000008.11:g.17946833GT[29], NC_000008.11:g.17946833GT[30], NC_000008.11:g.17946833GT[31], NC_000008.11:g.17946833GT[32], NC_000008.10:g.17804342GT[6], NC_000008.10:g.17804342GT[7], NC_000008.10:g.17804342GT[8], NC_000008.10:g.17804342GT[9], NC_000008.10:g.17804342GT[10], NC_000008.10:g.17804342GT[11], NC_000008.10:g.17804342GT[12], NC_000008.10:g.17804342GT[13], NC_000008.10:g.17804342GT[14], NC_000008.10:g.17804342GT[15], NC_000008.10:g.17804342GT[16], NC_000008.10:g.17804342GT[17], NC_000008.10:g.17804342GT[18], NC_000008.10:g.17804342GT[19], NC_000008.10:g.17804342GT[21], NC_000008.10:g.17804342GT[22], NC_000008.10:g.17804342GT[23], NC_000008.10:g.17804342GT[24], NC_000008.10:g.17804342GT[25], NC_000008.10:g.17804342GT[26], NC_000008.10:g.17804342GT[27], NC_000008.10:g.17804342GT[28], NC_000008.10:g.17804342GT[29], NC_000008.10:g.17804342GT[30], NC_000008.10:g.17804342GT[31], NC_000008.10:g.17804342GT[32], NG_027690.2:g.28847GT[6], NG_027690.2:g.28847GT[7], NG_027690.2:g.28847GT[8], NG_027690.2:g.28847GT[9], NG_027690.2:g.28847GT[10], NG_027690.2:g.28847GT[11], NG_027690.2:g.28847GT[12], NG_027690.2:g.28847GT[13], NG_027690.2:g.28847GT[14], NG_027690.2:g.28847GT[15], NG_027690.2:g.28847GT[16], NG_027690.2:g.28847GT[17], NG_027690.2:g.28847GT[18], NG_027690.2:g.28847GT[19], NG_027690.2:g.28847GT[21], NG_027690.2:g.28847GT[22], NG_027690.2:g.28847GT[23], NG_027690.2:g.28847GT[24], NG_027690.2:g.28847GT[25], NG_027690.2:g.28847GT[26], NG_027690.2:g.28847GT[27], NG_027690.2:g.28847GT[28], NG_027690.2:g.28847GT[29], NG_027690.2:g.28847GT[30], NG_027690.2:g.28847GT[31], NG_027690.2:g.28847GT[32], NG_027690.1:g.28977GT[6], NG_027690.1:g.28977GT[7], NG_027690.1:g.28977GT[8], NG_027690.1:g.28977GT[9], NG_027690.1:g.28977GT[10], NG_027690.1:g.28977GT[11], NG_027690.1:g.28977GT[12], NG_027690.1:g.28977GT[13], NG_027690.1:g.28977GT[14], NG_027690.1:g.28977GT[15], NG_027690.1:g.28977GT[16], NG_027690.1:g.28977GT[17], NG_027690.1:g.28977GT[18], NG_027690.1:g.28977GT[19], NG_027690.1:g.28977GT[21], NG_027690.1:g.28977GT[22], NG_027690.1:g.28977GT[23], NG_027690.1:g.28977GT[24], NG_027690.1:g.28977GT[25], NG_027690.1:g.28977GT[26], NG_027690.1:g.28977GT[27], NG_027690.1:g.28977GT[28], NG_027690.1:g.28977GT[29], NG_027690.1:g.28977GT[30], NG_027690.1:g.28977GT[31], NG_027690.1:g.28977GT[32]

Select item 14915279645.

rs1491527964 has merged into rs5889754 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:17943008 (GRCh38)
8:17800517 (GRCh37)
Canonical SPDI:: NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:17942996:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3686/1846 (1000Genomes)
HGVS:: NC_000008.11:g.17943008_17943012del, NC_000008.11:g.17943009_17943012del, NC_000008.11:g.17943010_17943012del, NC_000008.11:g.17943011_17943012del, NC_000008.11:g.17943012del, NC_000008.11:g.17943012dup, NC_000008.11:g.17943011_17943012dup, NC_000008.11:g.17943006_17943012dup, NC_000008.10:g.17800517_17800521del, NC_000008.10:g.17800518_17800521del, NC_000008.10:g.17800519_17800521del, NC_000008.10:g.17800520_17800521del, NC_000008.10:g.17800521del, NC_000008.10:g.17800521dup, NC_000008.10:g.17800520_17800521dup, NC_000008.10:g.17800515_17800521dup, NG_027690.2:g.25022_25026del, NG_027690.2:g.25023_25026del, NG_027690.2:g.25024_25026del, NG_027690.2:g.25025_25026del, NG_027690.2:g.25026del, NG_027690.2:g.25026dup, NG_027690.2:g.25025_25026dup, NG_027690.2:g.25020_25026dup, NG_027690.1:g.25152_25156del, NG_027690.1:g.25153_25156del, NG_027690.1:g.25154_25156del, NG_027690.1:g.25155_25156del, NG_027690.1:g.25156del, NG_027690.1:g.25156dup, NG_027690.1:g.25155_25156dup, NG_027690.1:g.25150_25156dup

Select item 14914537746.

rs1491453774 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:17946832 (GRCh38)
8:17804341 (GRCh37)
Canonical SPDI:: NC_000008.11:17946831:AG:
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.17946832_17946833del, NC_000008.10:g.17804341_17804342del, NG_027690.2:g.28846_28847del, NG_027690.1:g.28976_28977del

Select item 14914151467.

rs1491415146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 8:17968071 (GRCh38)
8:17825580 (GRCh37)
Canonical SPDI:: NC_000008.11:17968068:AGAG:AG,NC_000008.11:17968068:AGAG:AGAGAG
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00078/5 (1000Genomes)
HGVS:: NC_000008.11:g.17968069AG[1], NC_000008.11:g.17968069AG[3], NC_000008.10:g.17825578AG[1], NC_000008.10:g.17825578AG[3], NG_027690.2:g.50083AG[1], NG_027690.2:g.50083AG[3], NG_027690.1:g.50213AG[1], NG_027690.1:g.50213AG[3]

Select item 14913914848.

rs1491391484 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:17934269 (GRCh38)
8:17791779 (GRCh37)
Canonical SPDI:: NC_000008.11:17934269::C
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000074/3 (GnomAD)
HGVS:: NC_000008.11:g.17934269_17934270insC, NC_000008.10:g.17791778_17791779insC, NG_027690.2:g.16283_16284insC, NG_027690.1:g.16413_16414insC

Select item 14913867339.

rs1491386733 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 8:17948322 (GRCh38)
8:17805831 (GRCh37)
Canonical SPDI:: NC_000008.11:17948321:GG:G,NC_000008.11:17948321:GG:GGG
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.0001/7 (GnomAD)
HGVS:: NC_000008.11:g.17948323del, NC_000008.11:g.17948323dup, NC_000008.10:g.17805832del, NC_000008.10:g.17805832dup, NG_027690.2:g.30337del, NG_027690.2:g.30337dup, NG_027690.1:g.30467del, NG_027690.1:g.30467dup

Select item 149137519510.

rs1491375195 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 8:18018900 (GRCh38)
8:17876410 (GRCh37)
Canonical SPDI:: NC_000008.11:18018900:TAT:TATGTAT
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATGTAT=0./0 (ALFA)
HGVS:: NC_000008.11:g.18018903_18018904insGTAT, NC_000008.10:g.17876412_17876413insGTAT, NG_027690.2:g.100917_100918insGTAT, NG_027690.1:g.101047_101048insGTAT

Select item 149135347311.

rs1491353473 has merged into rs57492553 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:18005370 (GRCh38)
8:17862879 (GRCh37)
Canonical SPDI:: NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:18005357:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3622/1814 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000008.11:g.18005370_18005372del, NC_000008.11:g.18005371_18005372del, NC_000008.11:g.18005372del, NC_000008.11:g.18005372dup, NC_000008.11:g.18005371_18005372dup, NC_000008.11:g.18005370_18005372dup, NC_000008.11:g.18005369_18005372dup, NC_000008.11:g.18005366_18005372dup, NC_000008.11:g.18005364_18005372dup, NC_000008.10:g.17862879_17862881del, NC_000008.10:g.17862880_17862881del, NC_000008.10:g.17862881del, NC_000008.10:g.17862881dup, NC_000008.10:g.17862880_17862881dup, NC_000008.10:g.17862879_17862881dup, NC_000008.10:g.17862878_17862881dup, NC_000008.10:g.17862875_17862881dup, NC_000008.10:g.17862873_17862881dup, NG_027690.2:g.87384_87386del, NG_027690.2:g.87385_87386del, NG_027690.2:g.87386del, NG_027690.2:g.87386dup, NG_027690.2:g.87385_87386dup, NG_027690.2:g.87384_87386dup, NG_027690.2:g.87383_87386dup, NG_027690.2:g.87380_87386dup, NG_027690.2:g.87378_87386dup, NG_027690.1:g.87514_87516del, NG_027690.1:g.87515_87516del, NG_027690.1:g.87516del, NG_027690.1:g.87516dup, NG_027690.1:g.87515_87516dup, NG_027690.1:g.87514_87516dup, NG_027690.1:g.87513_87516dup, NG_027690.1:g.87510_87516dup, NG_027690.1:g.87508_87516dup

Select item 149129053012.

rs1491290530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACA,CACACACACA [Show Flanks]
Chromosome:: 8:18018853 (GRCh38)
8:17876363 (GRCh37)
Canonical SPDI:: NC_000008.11:18018853:A:ACACACACA,NC_000008.11:18018853:A:ACACACACACA
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACACA=0./0 (ALFA)
ACACACACAC=0.00005/1 (GnomAD)
HGVS:: NC_000008.11:g.18018855CA[4], NC_000008.11:g.18018855CA[5], NC_000008.10:g.17876364CA[4], NC_000008.10:g.17876364CA[5], NG_027690.2:g.100869CA[4], NG_027690.2:g.100869CA[5], NG_027690.1:g.100999CA[4], NG_027690.1:g.100999CA[5]

Select item 149128558113.

rs1491285581 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:17948321 (GRCh38)
8:17805830 (GRCh37)
Canonical SPDI:: NC_000008.11:17948320:TG:
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00396/47 (ALFA)
-=0.00089/25 (TOMMO)
-=0.00091/76 (GnomAD)
HGVS:: NC_000008.11:g.17948321_17948322del, NC_000008.10:g.17805830_17805831del, NG_027690.2:g.30335_30336del, NG_027690.1:g.30465_30466del

Select item 149128157514.

rs1491281575 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:17930121 (GRCh38)
8:17787630 (GRCh37)
Canonical SPDI:: NC_000008.11:17930120:TG:
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000759/9 (ALFA)
-=0.000151/20 (GnomAD)
HGVS:: NC_000008.11:g.17930121_17930122del, NC_000008.10:g.17787630_17787631del, NG_027690.2:g.12135_12136del, NG_027690.1:g.12265_12266del

Select item 149123356415.

rs1491233564 has merged into rs11333913 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:18029168 (GRCh38)
8:17886677 (GRCh37)
Canonical SPDI:: NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18029156:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.18029168_18029182del, NC_000008.11:g.18029169_18029182del, NC_000008.11:g.18029170_18029182del, NC_000008.11:g.18029171_18029182del, NC_000008.11:g.18029172_18029182del, NC_000008.11:g.18029173_18029182del, NC_000008.11:g.18029174_18029182del, NC_000008.11:g.18029175_18029182del, NC_000008.11:g.18029176_18029182del, NC_000008.11:g.18029177_18029182del, NC_000008.11:g.18029178_18029182del, NC_000008.11:g.18029179_18029182del, NC_000008.11:g.18029180_18029182del, NC_000008.11:g.18029181_18029182del, NC_000008.11:g.18029182del, NC_000008.11:g.18029182dup, NC_000008.11:g.18029181_18029182dup, NC_000008.11:g.18029180_18029182dup, NC_000008.11:g.18029179_18029182dup, NC_000008.11:g.18029178_18029182dup, NC_000008.11:g.18029177_18029182dup, NC_000008.11:g.18029176_18029182dup, NC_000008.11:g.18029174_18029182dup, NC_000008.11:g.18029173_18029182dup, NC_000008.10:g.17886677_17886691del, NC_000008.10:g.17886678_17886691del, NC_000008.10:g.17886679_17886691del, NC_000008.10:g.17886680_17886691del, NC_000008.10:g.17886681_17886691del, NC_000008.10:g.17886682_17886691del, NC_000008.10:g.17886683_17886691del, NC_000008.10:g.17886684_17886691del, NC_000008.10:g.17886685_17886691del, NC_000008.10:g.17886686_17886691del, NC_000008.10:g.17886687_17886691del, NC_000008.10:g.17886688_17886691del, NC_000008.10:g.17886689_17886691del, NC_000008.10:g.17886690_17886691del, NC_000008.10:g.17886691del, NC_000008.10:g.17886691dup, NC_000008.10:g.17886690_17886691dup, NC_000008.10:g.17886689_17886691dup, NC_000008.10:g.17886688_17886691dup, NC_000008.10:g.17886687_17886691dup, NC_000008.10:g.17886686_17886691dup, NC_000008.10:g.17886685_17886691dup, NC_000008.10:g.17886683_17886691dup, NC_000008.10:g.17886682_17886691dup, NG_027690.2:g.111182_111196del, NG_027690.2:g.111183_111196del, NG_027690.2:g.111184_111196del, NG_027690.2:g.111185_111196del, NG_027690.2:g.111186_111196del, NG_027690.2:g.111187_111196del, NG_027690.2:g.111188_111196del, NG_027690.2:g.111189_111196del, NG_027690.2:g.111190_111196del, NG_027690.2:g.111191_111196del, NG_027690.2:g.111192_111196del, NG_027690.2:g.111193_111196del, NG_027690.2:g.111194_111196del, NG_027690.2:g.111195_111196del, NG_027690.2:g.111196del, NG_027690.2:g.111196dup, NG_027690.2:g.111195_111196dup, NG_027690.2:g.111194_111196dup, NG_027690.2:g.111193_111196dup, NG_027690.2:g.111192_111196dup, NG_027690.2:g.111191_111196dup, NG_027690.2:g.111190_111196dup, NG_027690.2:g.111188_111196dup, NG_027690.2:g.111187_111196dup, NG_027690.1:g.111312_111326del, NG_027690.1:g.111313_111326del, NG_027690.1:g.111314_111326del, NG_027690.1:g.111315_111326del, NG_027690.1:g.111316_111326del, NG_027690.1:g.111317_111326del, NG_027690.1:g.111318_111326del, NG_027690.1:g.111319_111326del, NG_027690.1:g.111320_111326del, NG_027690.1:g.111321_111326del, NG_027690.1:g.111322_111326del, NG_027690.1:g.111323_111326del, NG_027690.1:g.111324_111326del, NG_027690.1:g.111325_111326del, NG_027690.1:g.111326del, NG_027690.1:g.111326dup, NG_027690.1:g.111325_111326dup, NG_027690.1:g.111324_111326dup, NG_027690.1:g.111323_111326dup, NG_027690.1:g.111322_111326dup, NG_027690.1:g.111321_111326dup, NG_027690.1:g.111320_111326dup, NG_027690.1:g.111318_111326dup, NG_027690.1:g.111317_111326dup, NM_006197.4:c.*1506_*1520del, NM_006197.4:c.*1507_*1520del, NM_006197.4:c.*1508_*1520del, NM_006197.4:c.*1509_*1520del, NM_006197.4:c.*1510_*1520del, NM_006197.4:c.*1511_*1520del, NM_006197.4:c.*1512_*1520del, NM_006197.4:c.*1513_*1520del, NM_006197.4:c.*1514_*1520del, NM_006197.4:c.*1515_*1520del, NM_006197.4:c.*1516_*1520del, NM_006197.4:c.*1517_*1520del, NM_006197.4:c.*1518_*1520del, NM_006197.4:c.*1519_*1520del, NM_006197.4:c.*1520del, NM_006197.4:c.*1520dup, NM_006197.4:c.*1519_*1520dup, NM_006197.4:c.*1518_*1520dup, NM_006197.4:c.*1517_*1520dup, NM_006197.4:c.*1516_*1520dup, NM_006197.4:c.*1515_*1520dup, NM_006197.4:c.*1514_*1520dup, NM_006197.4:c.*1512_*1520dup, NM_006197.4:c.*1511_*1520dup, NM_006197.3:c.*1506_*1520del, NM_006197.3:c.*1507_*1520del, NM_006197.3:c.*1508_*1520del, NM_006197.3:c.*1509_*1520del, NM_006197.3:c.*1510_*1520del, NM_006197.3:c.*1511_*1520del, NM_006197.3:c.*1512_*1520del, NM_006197.3:c.*1513_*1520del, NM_006197.3:c.*1514_*1520del, NM_006197.3:c.*1515_*1520del, NM_006197.3:c.*1516_*1520del, NM_006197.3:c.*1517_*1520del, NM_006197.3:c.*1518_*1520del, NM_006197.3:c.*1519_*1520del, NM_006197.3:c.*1520del, NM_006197.3:c.*1520dup, NM_006197.3:c.*1519_*1520dup, NM_006197.3:c.*1518_*1520dup, NM_006197.3:c.*1517_*1520dup, NM_006197.3:c.*1516_*1520dup, NM_006197.3:c.*1515_*1520dup, NM_006197.3:c.*1514_*1520dup, NM_006197.3:c.*1512_*1520dup, NM_006197.3:c.*1511_*1520dup, NM_001352650.2:c.*1506_*1520del, NM_001352650.2:c.*1507_*1520del, NM_001352650.2:c.*1508_*1520del, NM_001352650.2:c.*1509_*1520del, NM_001352650.2:c.*1510_*1520del, NM_001352650.2:c.*1511_*1520del, NM_001352650.2:c.*1512_*1520del, NM_001352650.2:c.*1513_*1520del, NM_001352650.2:c.*1514_*1520del, NM_001352650.2:c.*1515_*1520del, NM_001352650.2:c.*1516_*1520del, NM_001352650.2:c.*1517_*1520del, NM_001352650.2:c.*1518_*1520del, NM_001352650.2:c.*1519_*1520del, NM_001352650.2:c.*1520del, NM_001352650.2:c.*1520dup, NM_001352650.2:c.*1519_*1520dup, NM_001352650.2:c.*1518_*1520dup, NM_001352650.2:c.*1517_*1520dup, NM_001352650.2:c.*1516_*1520dup, NM_001352650.2:c.*1515_*1520dup, NM_001352650.2:c.*1514_*1520dup, NM_001352650.2:c.*1512_*1520dup, NM_001352650.2:c.*1511_*1520dup, NM_001352650.1:c.*1506_*1520del, NM_001352650.1:c.*1507_*1520del, NM_001352650.1:c.*1508_*1520del, NM_001352650.1:c.*1509_*1520del, NM_001352650.1:c.*1510_*1520del, NM_001352650.1:c.*1511_*1520del, NM_001352650.1:c.*1512_*1520del, NM_001352650.1:c.*1513_*1520del, NM_001352650.1:c.*1514_*1520del, NM_001352650.1:c.*1515_*1520del, NM_001352650.1:c.*1516_*1520del, NM_001352650.1:c.*1517_*1520del, NM_001352650.1:c.*1518_*1520del, NM_001352650.1:c.*1519_*1520del, NM_001352650.1:c.*1520del, NM_001352650.1:c.*1520dup, NM_001352650.1:c.*1519_*1520dup, NM_001352650.1:c.*1518_*1520dup, NM_001352650.1:c.*1517_*1520dup, NM_001352650.1:c.*1516_*1520dup, NM_001352650.1:c.*1515_*1520dup, NM_001352650.1:c.*1514_*1520dup, NM_001352650.1:c.*1512_*1520dup, NM_001352650.1:c.*1511_*1520dup, NM_001352633.2:c.*1506_*1520del, NM_001352633.2:c.*1507_*1520del, NM_001352633.2:c.*1508_*1520del, NM_001352633.2:c.*1509_*1520del, NM_001352633.2:c.*1510_*1520del, NM_001352633.2:c.*1511_*1520del, NM_001352633.2:c.*1512_*1520del, NM_001352633.2:c.*1513_*1520del, NM_001352633.2:c.*1514_*1520del, NM_001352633.2:c.*1515_*1520del, NM_001352633.2:c.*1516_*1520del, NM_001352633.2:c.*1517_*1520del, NM_001352633.2:c.*1518_*1520del, NM_001352633.2:c.*1519_*1520del, NM_001352633.2:c.*1520del, NM_001352633.2:c.*1520dup, NM_001352633.2:c.*1519_*1520dup, NM_001352633.2:c.*1518_*1520dup, NM_001352633.2:c.*1517_*1520dup, NM_001352633.2:c.*1516_*1520dup, NM_001352633.2:c.*1515_*1520dup, NM_001352633.2:c.*1514_*1520dup, NM_001352633.2:c.*1512_*1520dup, NM_001352633.2:c.*1511_*1520dup, NM_001352633.1:c.*1506_*1520del, NM_001352633.1:c.*1507_*1520del, NM_001352633.1:c.*1508_*1520del, NM_001352633.1:c.*1509_*1520del, NM_001352633.1:c.*1510_*1520del, NM_001352633.1:c.*1511_*1520del, NM_001352633.1:c.*1512_*1520del, NM_001352633.1:c.*1513_*1520del, NM_001352633.1:c.*1514_*1520del, NM_001352633.1:c.*1515_*1520del, NM_001352633.1:c.*1516_*1520del, NM_001352633.1:c.*1517_*1520del, NM_001352633.1:c.*1518_*1520del, NM_001352633.1:c.*1519_*1520del, NM_001352633.1:c.*1520del, NM_001352633.1:c.*1520dup, NM_001352633.1:c.*1519_*1520dup, NM_001352633.1:c.*1518_*1520dup, NM_001352633.1:c.*1517_*1520dup, NM_001352633.1:c.*1516_*1520dup, NM_001352633.1:c.*1515_*1520dup, NM_001352633.1:c.*1514_*1520dup, NM_001352633.1:c.*1512_*1520dup, NM_001352633.1:c.*1511_*1520dup, NM_001352653.2:c.*1506_*1520del, NM_001352653.2:c.*1507_*1520del, NM_001352653.2:c.*1508_*1520del, NM_001352653.2:c.*1509_*1520del, NM_001352653.2:c.*1510_*1520del, NM_001352653.2:c.*1511_*1520del, NM_001352653.2:c.*1512_*1520del, NM_001352653.2:c.*1513_*1520del, NM_001352653.2:c.*1514_*1520del, NM_001352653.2:c.*1515_*1520del, NM_001352653.2:c.*1516_*1520del, NM_001352653.2:c.*1517_*1520del, NM_001352653.2:c.*1518_*1520del, NM_001352653.2:c.*1519_*1520del, NM_001352653.2:c.*1520del, NM_001352653.2:c.*1520dup, NM_001352653.2:c.*1519_*1520dup, NM_001352653.2:c.*1518_*1520dup, NM_001352653.2:c.*1517_*1520dup, NM_001352653.2:c.*1516_*1520dup, NM_001352653.2:c.*1515_*1520dup, NM_001352653.2:c.*1514_*1520dup, NM_001352653.2:c.*1512_*1520dup, NM_001352653.2:c.*1511_*1520dup, NM_001352653.1:c.*1506_*1520del, NM_001352653.1:c.*1507_*1520del, NM_001352653.1:c.*1508_*1520del, NM_001352653.1:c.*1509_*1520del, NM_001352653.1:c.*1510_*1520del, NM_001352653.1:c.*1511_*1520del, NM_001352653.1:c.*1512_*1520del, NM_001352653.1:c.*1513_*1520del, NM_001352653.1:c.*1514_*1520del, NM_001352653.1:c.*1515_*1520del, NM_001352653.1:c.*1516_*1520del, NM_001352653.1:c.*1517_*1520del, NM_001352653.1:c.*1518_*1520del, NM_001352653.1:c.*1519_*1520del, NM_001352653.1:c.*1520del, NM_001352653.1:c.*1520dup, NM_001352653.1:c.*1519_*1520dup, NM_001352653.1:c.*1518_*1520dup, NM_001352653.1:c.*1517_*1520dup, NM_001352653.1:c.*1516_*1520dup, NM_001352653.1:c.*1515_*1520dup, NM_001352653.1:c.*1514_*1520dup, NM_001352653.1:c.*1512_*1520dup, NM_001352653.1:c.*1511_*1520dup, NM_001352635.2:c.*1506_*1520del, NM_001352635.2:c.*1507_*1520del, NM_001352635.2:c.*1508_*1520del, NM_001352635.2:c.*1509_*1520del, NM_001352635.2:c.*1510_*1520del, NM_001352635.2:c.*1511_*1520del, NM_001352635.2:c.*1512_*1520del, NM_001352635.2:c.*1513_*1520del, NM_001352635.2:c.*1514_*1520del, NM_001352635.2:c.*1515_*1520del, NM_001352635.2:c.*1516_*1520del, NM_001352635.2:c.*1517_*1520del, NM_001352635.2:c.*1518_*1520del, NM_001352635.2:c.*1519_*1520del, NM_001352635.2:c.*1520del, NM_001352635.2:c.*1520dup, NM_001352635.2:c.*1519_*1520dup, NM_001352635.2:c.*1518_*1520dup, NM_001352635.2:c.*1517_*1520dup, NM_001352635.2:c.*1516_*1520dup, NM_001352635.2:c.*1515_*1520dup, NM_001352635.2:c.*1514_*1520dup, NM_001352635.2:c.*1512_*1520dup, NM_001352635.2:c.*1511_*1520dup, NM_001352635.1:c.*1506_*1520del, NM_001352635.1:c.*1507_*1520del, NM_001352635.1:c.*1508_*1520del, NM_001352635.1:c.*1509_*1520del, NM_001352635.1:c.*1510_*1520del, NM_001352635.1:c.*1511_*1520del, NM_001352635.1:c.*1512_*1520del, NM_001352635.1:c.*1513_*1520del, NM_001352635.1:c.*1514_*1520del, NM_001352635.1:c.*1515_*1520del, NM_001352635.1:c.*1516_*1520del, NM_001352635.1:c.*1517_*1520del, NM_001352635.1:c.*1518_*1520del, NM_001352635.1:c.*1519_*1520del, NM_001352635.1:c.*1520del, NM_001352635.1:c.*1520dup, NM_001352635.1:c.*1519_*1520dup, NM_001352635.1:c.*1518_*1520dup, NM_001352635.1:c.*1517_*1520dup, NM_001352635.1:c.*1516_*1520dup, NM_001352635.1:c.*1515_*1520dup, NM_001352635.1:c.*1514_*1520dup, NM_001352635.1:c.*1512_*1520dup, NM_001352635.1:c.*1511_*1520dup, NM_001352638.2:c.*1506_*1520del, NM_001352638.2:c.*1507_*1520del, NM_001352638.2:c.*1508_*1520del, NM_001352638.2:c.*1509_*1520del, NM_001352638.2:c.*1510_*1520del, NM_001352638.2:c.*1511_*1520del, NM_001352638.2:c.*1512_*1520del, NM_001352638.2:c.*1513_*1520del, NM_001352638.2:c.*1514_*1520del, NM_001352638.2:c.*1515_*1520del, NM_001352638.2:c.*1516_*1520del, NM_001352638.2:c.*1517_*1520del, NM_001352638.2:c.*1518_*1520del, NM_001352638.2:c.*1519_*1520del, NM_001352638.2:c.*1520del, NM_001352638.2:c.*1520dup, NM_001352638.2:c.*1519_*1520dup, NM_001352638.2:c.*1518_*1520dup, NM_001352638.2:c.*1517_*1520dup, NM_001352638.2:c.*1516_*1520dup, NM_001352638.2:c.*1515_*1520dup, NM_001352638.2:c.*1514_*1520dup, NM_001352638.2:c.*1512_*1520dup, NM_001352638.2:c.*1511_*1520dup, NM_001352638.1:c.*1506_*1520del, NM_001352638.1:c.*1507_*1520del, NM_001352638.1:c.*1508_*1520del, NM_001352638.1:c.*1509_*1520del, NM_001352638.1:c.*1510_*1520del, NM_001352638.1:c.*1511_*1520del, NM_001352638.1:c.*1512_*1520del, NM_001352638.1:c.*1513_*1520del, NM_001352638.1:c.*1514_*1520del, NM_001352638.1:c.*1515_*1520del, NM_001352638.1:c.*1516_*1520del, NM_001352638.1:c.*1517_*1520del, NM_001352638.1:c.*1518_*1520del, NM_001352638.1:c.*1519_*1520del, NM_001352638.1:c.*1520del, NM_001352638.1:c.*1520dup, NM_001352638.1:c.*1519_*1520dup, NM_001352638.1:c.*1518_*1520dup, NM_001352638.1:c.*1517_*1520dup, NM_001352638.1:c.*1516_*1520dup, NM_001352638.1:c.*1515_*1520dup, NM_001352638.1:c.*1514_*1520dup, NM_001352638.1:c.*1512_*1520dup, NM_001352638.1:c.*1511_*1520dup, NM_001352645.2:c.*1506_*1520del, NM_001352645.2:c.*1507_*1520del, NM_001352645.2:c.*1508_*1520del, NM_001352645.2:c.*1509_*1520del, NM_001352645.2:c.*1510_*1520del, NM_001352645.2:c.*1511_*1520del, NM_001352645.2:c.*1512_*1520del, NM_001352645.2:c.*1513_*1520del, NM_001352645.2:c.*1514_*1520del, NM_001352645.2:c.*1515_*1520del, NM_001352645.2:c.*1516_*1520del, NM_001352645.2:c.*1517_*1520del, NM_001352645.2:c.*1518_*1520del, NM_001352645.2:c.*1519_*1520del, NM_001352645.2:c.*1520del, NM_001352645.2:c.*1520dup, NM_001352645.2:c.*1519_*1520dup, NM_001352645.2:c.*1518_*1520dup, NM_001352645.2:c.*1517_*1520dup, NM_001352645.2:c.*1516_*1520dup, NM_001352645.2:c.*1515_*1520dup, NM_001352645.2:c.*1514_*1520dup, NM_001352645.2:c.*1512_*1520dup, NM_001352645.2:c.*1511_*1520dup, NM_001352645.1:c.*1506_*1520del, NM_001352645.1:c.*1507_*1520del, NM_001352645.1:c.*1508_*1520del, NM_001352645.1:c.*1509_*1520del, NM_001352645.1:c.*1510_*1520del, NM_001352645.1:c.*1511_*1520del, NM_001352645.1:c.*1512_*1520del, NM_001352645.1:c.*1513_*1520del, NM_001352645.1:c.*1514_*1520del, NM_001352645.1:c.*1515_*1520del, NM_001352645.1:c.*1516_*1520del, NM_001352645.1:c.*1517_*1520del, NM_001352645.1:c.*1518_*1520del, NM_001352645.1:c.*1519_*1520del, NM_001352645.1:c.*1520del, NM_001352645.1:c.*1520dup, NM_001352645.1:c.*1519_*1520dup, NM_001352645.1:c.*1518_*1520dup, NM_001352645.1:c.*1517_*1520dup, NM_001352645.1:c.*1516_*1520dup, NM_001352645.1:c.*1515_*1520dup, NM_001352645.1:c.*1514_*1520dup, NM_001352645.1:c.*1512_*1520dup, NM_001352645.1:c.*1511_*1520dup, NM_001352648.2:c.*1506_*1520del, NM_001352648.2:c.*1507_*1520del, NM_001352648.2:c.*1508_*1520del, NM_001352648.2:c.*1509_*1520del, NM_001352648.2:c.*1510_*1520del, NM_001352648.2:c.*1511_*1520del, NM_001352648.2:c.*1512_*1520del, NM_001352648.2:c.*1513_*1520del, NM_001352648.2:c.*1514_*1520del, NM_001352648.2:c.*1515_*1520del, NM_001352648.2:c.*1516_*1520del, NM_001352648.2:c.*1517_*1520del, NM_001352648.2:c.*1518_*1520del, NM_001352648.2:c.*1519_*1520del, NM_001352648.2:c.*1520del, NM_001352648.2:c.*1520dup, NM_001352648.2:c.*1519_*1520dup, NM_001352648.2:c.*1518_*1520dup, NM_001352648.2:c.*1517_*1520dup, NM_001352648.2:c.*1516_*1520dup, NM_001352648.2:c.*1515_*1520dup, NM_001352648.2:c.*1514_*1520dup, NM_001352648.2:c.*1512_*1520dup, NM_001352648.2:c.*1511_*1520dup, NM_001352648.1:c.*1506_*1520del, NM_001352648.1:c.*1507_*1520del, NM_001352648.1:c.*1508_*1520del, NM_001352648.1:c.*1509_*1520del, NM_001352648.1:c.*1510_*1520del, NM_001352648.1:c.*1511_*1520del, NM_001352648.1:c.*1512_*1520del, NM_001352648.1:c.*1513_*1520del, NM_001352648.1:c.*1514_*1520del, NM_001352648.1:c.*1515_*1520del, NM_001352648.1:c.*1516_*1520del, NM_001352648.1:c.*1517_*1520del, NM_001352648.1:c.*1518_*1520del, NM_001352648.1:c.*1519_*1520del, NM_001352648.1:c.*1520del, NM_001352648.1:c.*1520dup, NM_001352648.1:c.*1519_*1520dup, NM_001352648.1:c.*1518_*1520dup, NM_001352648.1:c.*1517_*1520dup, NM_001352648.1:c.*1516_*1520dup, NM_001352648.1:c.*1515_*1520dup, NM_001352648.1:c.*1514_*1520dup, NM_001352648.1:c.*1512_*1520dup, NM_001352648.1:c.*1511_*1520dup, NM_001352651.2:c.*1506_*1520del, NM_001352651.2:c.*1507_*1520del, NM_001352651.2:c.*1508_*1520del, NM_001352651.2:c.*1509_*1520del, NM_001352651.2:c.*1510_*1520del, NM_001352651.2:c.*1511_*1520del, NM_001352651.2:c.*1512_*1520del, NM_001352651.2:c.*1513_*1520del, NM_001352651.2:c.*1514_*1520del, NM_001352651.2:c.*1515_*1520del, NM_001352651.2:c.*1516_*1520del, NM_001352651.2:c.*1517_*1520del, NM_001352651.2:c.*1518_*1520del, NM_001352651.2:c.*1519_*1520del, NM_001352651.2:c.*1520del, NM_001352651.2:c.*1520dup, NM_001352651.2:c.*1519_*1520dup, NM_001352651.2:c.*1518_*1520dup, NM_001352651.2:c.*1517_*1520dup, NM_001352651.2:c.*1516_*1520dup, NM_001352651.2:c.*1515_*1520dup, NM_001352651.2:c.*1514_*1520dup, NM_001352651.2:c.*1512_*1520dup, NM_001352651.2:c.*1511_*1520dup, NM_001352651.1:c.*1506_*1520del, NM_001352651.1:c.*1507_*1520del, NM_001352651.1:c.*1508_*1520del, NM_001352651.1:c.*1509_*1520del, NM_001352651.1:c.*1510_*1520del, NM_001352651.1:c.*1511_*1520del, NM_001352651.1:c.*1512_*1520del, NM_001352651.1:c.*1513_*1520del, NM_001352651.1:c.*1514_*1520del, NM_001352651.1:c.*1515_*1520del, NM_001352651.1:c.*1516_*1520del, NM_001352651.1:c.*1517_*1520del, NM_001352651.1:c.*1518_*1520del, NM_001352651.1:c.*1519_*1520del, NM_001352651.1:c.*1520del, NM_001352651.1:c.*1520dup, NM_001352651.1:c.*1519_*1520dup, NM_001352651.1:c.*1518_*1520dup, NM_001352651.1:c.*1517_*1520dup, NM_001352651.1:c.*1516_*1520dup, NM_001352651.1:c.*1515_*1520dup, NM_001352651.1:c.*1514_*1520dup, NM_001352651.1:c.*1512_*1520dup, NM_001352651.1:c.*1511_*1520dup, NM_001352652.2:c.*1506_*1520del, NM_001352652.2:c.*1507_*1520del, NM_001352652.2:c.*1508_*1520del, NM_001352652.2:c.*1509_*1520del, NM_001352652.2:c.*1510_*1520del, NM_001352652.2:c.*1511_*1520del, NM_001352652.2:c.*1512_*1520del, NM_001352652.2:c.*1513_*1520del, NM_001352652.2:c.*1514_*1520del, NM_001352652.2:c.*1515_*1520del, NM_001352652.2:c.*1516_*1520del, NM_001352652.2:c.*1517_*1520del, NM_001352652.2:c.*1518_*1520del, NM_001352652.2:c.*1519_*1520del, NM_001352652.2:c.*1520del, NM_001352652.2:c.*1520dup, NM_001352652.2:c.*1519_*1520dup, NM_001352652.2:c.*1518_*1520dup, NM_001352652.2:c.*1517_*1520dup, NM_001352652.2:c.*1516_*1520dup, NM_001352652.2:c.*1515_*1520dup, NM_001352652.2:c.*1514_*1520dup, NM_001352652.2:c.*1512_*1520dup, NM_001352652.2:c.*1511_*1520dup, NM_001352652.1:c.*1506_*1520del, NM_001352652.1:c.*1507_*1520del, NM_001352652.1:c.*1508_*1520del, NM_001352652.1:c.*1509_*1520del, NM_001352652.1:c.*1510_*1520del, NM_001352652.1:c.*1511_*1520del, NM_001352652.1:c.*1512_*1520del, NM_001352652.1:c.*1513_*1520del, NM_001352652.1:c.*1514_*1520del, NM_001352652.1:c.*1515_*1520del, NM_001352652.1:c.*1516_*1520del, NM_001352652.1:c.*1517_*1520del, NM_001352652.1:c.*1518_*1520del, NM_001352652.1:c.*1519_*1520del, NM_001352652.1:c.*1520del, NM_001352652.1:c.*1520dup, NM_001352652.1:c.*1519_*1520dup, NM_001352652.1:c.*1518_*1520dup, NM_001352652.1:c.*1517_*1520dup, NM_001352652.1:c.*1516_*1520dup, NM_001352652.1:c.*1515_*1520dup, NM_001352652.1:c.*1514_*1520dup, NM_001352652.1:c.*1512_*1520dup, NM_001352652.1:c.*1511_*1520dup, NM_001352642.2:c.*1506_*1520del, NM_001352642.2:c.*1507_*1520del, NM_001352642.2:c.*1508_*1520del, NM_001352642.2:c.*1509_*1520del, NM_001352642.2:c.*1510_*1520del, NM_001352642.2:c.*1511_*1520del, NM_001352642.2:c.*1512_*1520del, NM_001352642.2:c.*1513_*1520del, NM_001352642.2:c.*1514_*1520del, NM_001352642.2:c.*1515_*1520del, NM_001352642.2:c.*1516_*1520del, NM_001352642.2:c.*1517_*1520del, NM_001352642.2:c.*1518_*1520del, NM_001352642.2:c.*1519_*1520del, NM_001352642.2:c.*1520del, NM_001352642.2:c.*1520dup, NM_001352642.2:c.*1519_*1520dup, NM_001352642.2:c.*1518_*1520dup, NM_001352642.2:c.*1517_*1520dup, NM_001352642.2:c.*1516_*1520dup, NM_001352642.2:c.*1515_*1520dup, NM_001352642.2:c.*1514_*1520dup, NM_001352642.2:c.*1512_*1520dup, NM_001352642.2:c.*1511_*1520dup, NM_001352642.1:c.*1506_*1520del, NM_001352642.1:c.*1507_*1520del, NM_001352642.1:c.*1508_*1520del, NM_001352642.1:c.*1509_*1520del, NM_001352642.1:c.*1510_*1520del, NM_001352642.1:c.*1511_*1520del, NM_001352642.1:c.*1512_*1520del, NM_001352642.1:c.*1513_*1520del, NM_001352642.1:c.*1514_*1520del, NM_001352642.1:c.*1515_*1520del, NM_001352642.1:c.*1516_*1520del, NM_001352642.1:c.*1517_*1520del, NM_001352642.1:c.*1518_*1520del, NM_001352642.1:c.*1519_*1520del, NM_001352642.1:c.*1520del, NM_001352642.1:c.*1520dup, NM_001352642.1:c.*1519_*1520dup, NM_001352642.1:c.*1518_*1520dup, NM_001352642.1:c.*1517_*1520dup, NM_001352642.1:c.*1516_*1520dup, NM_001352642.1:c.*1515_*1520dup, NM_001352642.1:c.*1514_*1520dup, NM_001352642.1:c.*1512_*1520dup, NM_001352642.1:c.*1511_*1520dup, NM_001352632.2:c.*1506_*1520del, NM_001352632.2:c.*1507_*1520del, NM_001352632.2:c.*1508_*1520del, NM_001352632.2:c.*1509_*1520del, NM_001352632.2:c.*1510_*1520del, NM_001352632.2:c.*1511_*1520del, NM_001352632.2:c.*1512_*1520del, NM_001352632.2:c.*1513_*1520del, NM_001352632.2:c.*1514_*1520del, NM_001352632.2:c.*1515_*1520del, NM_001352632.2:c.*1516_*1520del, NM_001352632.2:c.*1517_*1520del, NM_001352632.2:c.*1518_*1520del, NM_001352632.2:c.*1519_*1520del, NM_001352632.2:c.*1520del, NM_001352632.2:c.*1520dup, NM_001352632.2:c.*1519_*1520dup, NM_001352632.2:c.*1518_*1520dup, NM_001352632.2:c.*1517_*1520dup, NM_001352632.2:c.*1516_*1520dup, NM_001352632.2:c.*1515_*1520dup, NM_001352632.2:c.*1514_*1520dup, NM_001352632.2:c.*1512_*1520dup, NM_001352632.2:c.*1511_*1520dup, NM_001352632.1:c.*1506_*1520del, NM_001352632.1:c.*1507_*1520del, NM_001352632.1:c.*1508_*1520del, NM_001352632.1:c.*1509_*1520del, NM_001352632.1:c.*1510_*1520del, NM_001352632.1:c.*1511_*1520del, NM_001352632.1:c.*1512_*1520del, NM_001352632.1:c.*1513_*1520del, NM_001352632.1:c.*1514_*1520del, NM_001352632.1:c.*1515_*1520del, NM_001352632.1:c.*1516_*1520del, NM_001352632.1:c.*1517_*1520del, NM_001352632.1:c.*1518_*1520del, NM_001352632.1:c.*1519_*1520del, NM_001352632.1:c.*1520del, NM_001352632.1:c.*1520dup, NM_001352632.1:c.*1519_*1520dup, NM_001352632.1:c.*1518_*1520dup, NM_001352632.1:c.*1517_*1520dup, NM_001352632.1:c.*1516_*1520dup, NM_001352632.1:c.*1515_*1520dup, NM_001352632.1:c.*1514_*1520dup, NM_001352632.1:c.*1512_*1520dup, NM_001352632.1:c.*1511_*1520dup, NM_001352634.2:c.*1506_*1520del, NM_001352634.2:c.*1507_*1520del, NM_001352634.2:c.*1508_*1520del, NM_001352634.2:c.*1509_*1520del, NM_001352634.2:c.*1510_*1520del, NM_001352634.2:c.*1511_*1520del, NM_001352634.2:c.*1512_*1520del, NM_001352634.2:c.*1513_*1520del, NM_001352634.2:c.*1514_*1520del, NM_001352634.2:c.*1515_*1520del, NM_001352634.2:c.*1516_*1520del, NM_001352634.2:c.*1517_*1520del, NM_001352634.2:c.*1518_*1520del, NM_001352634.2:c.*1519_*1520del, NM_001352634.2:c.*1520del, NM_001352634.2:c.*1520dup, NM_001352634.2:c.*1519_*1520dup, NM_001352634.2:c.*1518_*1520dup, NM_001352634.2:c.*1517_*1520dup, NM_001352634.2:c.*1516_*1520dup, NM_001352634.2:c.*1515_*1520dup, NM_001352634.2:c.*1514_*1520dup, NM_001352634.2:c.*1512_*1520dup, NM_001352634.2:c.*1511_*1520dup, NM_001352634.1:c.*1506_*1520del, NM_001352634.1:c.*1507_*1520del, NM_001352634.1:c.*1508_*1520del, NM_001352634.1:c.*1509_*1520del, NM_001352634.1:c.*1510_*1520del, NM_001352634.1:c.*1511_*1520del, NM_001352634.1:c.*1512_*1520del, NM_001352634.1:c.*1513_*1520del, NM_001352634.1:c.*1514_*1520del, NM_001352634.1:c.*1515_*1520del, NM_001352634.1:c.*1516_*1520del, NM_001352634.1:c.*1517_*1520del, NM_001352634.1:c.*1518_*1520del, NM_001352634.1:c.*1519_*1520del, NM_001352634.1:c.*1520del, NM_001352634.1:c.*1520dup, NM_001352634.1:c.*1519_*1520dup, NM_001352634.1:c.*1518_*1520dup, NM_001352634.1:c.*1517_*1520dup, NM_001352634.1:c.*1516_*1520dup, NM_001352634.1:c.*1515_*1520dup, NM_001352634.1:c.*1514_*1520dup, NM_001352634.1:c.*1512_*1520dup, NM_001352634.1:c.*1511_*1520dup, NM_001315507.2:c.*1506_*1520del, NM_001315507.2:c.*1507_*1520del, NM_001315507.2:c.*1508_*1520del, NM_001315507.2:c.*1509_*1520del, NM_001315507.2:c.*1510_*1520del, NM_001315507.2:c.*1511_*1520del, NM_001315507.2:c.*1512_*1520del, NM_001315507.2:c.*1513_*1520del, NM_001315507.2:c.*1514_*1520del, NM_001315507.2:c.*1515_*1520del, NM_001315507.2:c.*1516_*1520del, NM_001315507.2:c.*1517_*1520del, NM_001315507.2:c.*1518_*1520del, NM_001315507.2:c.*1519_*1520del, NM_001315507.2:c.*1520del, NM_001315507.2:c.*1520dup, NM_001315507.2:c.*1519_*1520dup, NM_001315507.2:c.*1518_*1520dup, NM_001315507.2:c.*1517_*1520dup, NM_001315507.2:c.*1516_*1520dup, NM_001315507.2:c.*1515_*1520dup, NM_001315507.2:c.*1514_*1520dup, NM_001315507.2:c.*1512_*1520dup, NM_001315507.2:c.*1511_*1520dup, NM_001315507.1:c.*1506_*1520del, NM_001315507.1:c.*1507_*1520del, NM_001315507.1:c.*1508_*1520del, NM_001315507.1:c.*1509_*1520del, NM_001315507.1:c.*1510_*1520del, NM_001315507.1:c.*1511_*1520del, NM_001315507.1:c.*1512_*1520del, NM_001315507.1:c.*1513_*1520del, NM_001315507.1:c.*1514_*1520del, NM_001315507.1:c.*1515_*1520del, NM_001315507.1:c.*1516_*1520del, NM_001315507.1:c.*1517_*1520del, NM_001315507.1:c.*1518_*1520del, NM_001315507.1:c.*1519_*1520del, NM_001315507.1:c.*1520del, NM_001315507.1:c.*1520dup, NM_001315507.1:c.*1519_*1520dup, NM_001315507.1:c.*1518_*1520dup, NM_001315507.1:c.*1517_*1520dup, NM_001315507.1:c.*1516_*1520dup, NM_001315507.1:c.*1515_*1520dup, NM_001315507.1:c.*1514_*1520dup, NM_001315507.1:c.*1512_*1520dup, NM_001315507.1:c.*1511_*1520dup, NR_148032.2:n.7838_7852del, NR_148032.2:n.7839_7852del, NR_148032.2:n.7840_7852del, NR_148032.2:n.7841_7852del, NR_148032.2:n.7842_7852del, NR_148032.2:n.7843_7852del, NR_148032.2:n.7844_7852del, NR_148032.2:n.7845_7852del, NR_148032.2:n.7846_7852del, NR_148032.2:n.7847_7852del, NR_148032.2:n.7848_7852del, NR_148032.2:n.7849_7852del, NR_148032.2:n.7850_7852del, NR_148032.2:n.7851_7852del, NR_148032.2:n.7852del, NR_148032.2:n.7852dup, NR_148032.2:n.7851_7852dup, NR_148032.2:n.7850_7852dup, NR_148032.2:n.7849_7852dup, NR_148032.2:n.7848_7852dup, NR_148032.2:n.7847_7852dup, NR_148032.2:n.7846_7852dup, NR_148032.2:n.7844_7852dup, NR_148032.2:n.7843_7852dup, NR_148032.1:n.7969_7983del, NR_148032.1:n.7970_7983del, NR_148032.1:n.7971_7983del, NR_148032.1:n.7972_7983del, NR_148032.1:n.7973_7983del, NR_148032.1:n.7974_7983del, NR_148032.1:n.7975_7983del, NR_148032.1:n.7976_7983del, NR_148032.1:n.7977_7983del, NR_148032.1:n.7978_7983del, NR_148032.1:n.7979_7983del, NR_148032.1:n.7980_7983del, NR_148032.1:n.7981_7983del, NR_148032.1:n.7982_7983del, NR_148032.1:n.7983del, NR_148032.1:n.7983dup, NR_148032.1:n.7982_7983dup, NR_148032.1:n.7981_7983dup, NR_148032.1:n.7980_7983dup, NR_148032.1:n.7979_7983dup, NR_148032.1:n.7978_7983dup, NR_148032.1:n.7977_7983dup, NR_148032.1:n.7975_7983dup, NR_148032.1:n.7974_7983dup, NM_001352636.2:c.*1506_*1520del, NM_001352636.2:c.*1507_*1520del, NM_001352636.2:c.*1508_*1520del, NM_001352636.2:c.*1509_*1520del, NM_001352636.2:c.*1510_*1520del, NM_001352636.2:c.*1511_*1520del, NM_001352636.2:c.*1512_*1520del, NM_001352636.2:c.*1513_*1520del, NM_001352636.2:c.*1514_*1520del, NM_001352636.2:c.*1515_*1520del, NM_001352636.2:c.*1516_*1520del, NM_001352636.2:c.*1517_*1520del, NM_001352636.2:c.*1518_*1520del, NM_001352636.2:c.*1519_*1520del, NM_001352636.2:c.*1520del, NM_001352636.2:c.*1520dup, NM_001352636.2:c.*1519_*1520dup, NM_001352636.2:c.*1518_*1520dup, NM_001352636.2:c.*1517_*1520dup, NM_001352636.2:c.*1516_*1520dup, NM_001352636.2:c.*1515_*1520dup, NM_001352636.2:c.*1514_*1520dup, NM_001352636.2:c.*1512_*1520dup, NM_001352636.2:c.*1511_*1520dup, NM_001352636.1:c.*1506_*1520del, NM_001352636.1:c.*1507_*1520del, NM_001352636.1:c.*1508_*1520del, NM_001352636.1:c.*1509_*1520del, NM_001352636.1:c.*1510_*1520del, NM_001352636.1:c.*1511_*1520del, NM_001352636.1:c.*1512_*1520del, NM_001352636.1:c.*1513_*1520del, NM_001352636.1:c.*1514_*1520del, NM_001352636.1:c.*1515_*1520del, NM_001352636.1:c.*1516_*1520del, NM_001352636.1:c.*1517_*1520del, NM_001352636.1:c.*1518_*1520del, NM_001352636.1:c.*1519_*1520del, NM_001352636.1:c.*1520del, NM_001352636.1:c.*1520dup, NM_001352636.1:c.*1519_*1520dup, NM_001352636.1:c.*1518_*1520dup, NM_001352636.1:c.*1517_*1520dup, NM_001352636.1:c.*1516_*1520dup, NM_001352636.1:c.*1515_*1520dup, NM_001352636.1:c.*1514_*1520dup, NM_001352636.1:c.*1512_*1520dup, NM_001352636.1:c.*1511_*1520dup, NM_001352637.2:c.*1506_*1520del, NM_001352637.2:c.*1507_*1520del, NM_001352637.2:c.*1508_*1520del, NM_001352637.2:c.*1509_*1520del, NM_001352637.2:c.*1510_*1520del, NM_001352637.2:c.*1511_*1520del, NM_001352637.2:c.*1512_*1520del, NM_001352637.2:c.*1513_*1520del, NM_001352637.2:c.*1514_*1520del, NM_001352637.2:c.*1515_*1520del, NM_001352637.2:c.*1516_*1520del, NM_001352637.2:c.*1517_*1520del, NM_001352637.2:c.*1518_*1520del, NM_001352637.2:c.*1519_*1520del, NM_001352637.2:c.*1520del, NM_001352637.2:c.*1520dup, NM_001352637.2:c.*1519_*1520dup, NM_001352637.2:c.*1518_*1520dup, NM_001352637.2:c.*1517_*1520dup, NM_001352637.2:c.*1516_*1520dup, NM_001352637.2:c.*1515_*1520dup, NM_001352637.2:c.*1514_*1520dup, NM_001352637.2:c.*1512_*1520dup, NM_001352637.2:c.*1511_*1520dup, NM_001352637.1:c.*1506_*1520del, NM_001352637.1:c.*1507_*1520del, NM_001352637.1:c.*1508_*1520del, NM_001352637.1:c.*1509_*1520del, NM_001352637.1:c.*1510_*1520del, NM_001352637.1:c.*1511_*1520del, NM_001352637.1:c.*1512_*1520del, NM_001352637.1:c.*1513_*1520del, NM_001352637.1:c.*1514_*1520del, NM_001352637.1:c.*1515_*1520del, NM_001352637.1:c.*1516_*1520del, NM_001352637.1:c.*1517_*1520del, NM_001352637.1:c.*1518_*1520del, NM_001352637.1:c.*1519_*1520del, NM_001352637.1:c.*1520del, NM_001352637.1:c.*1520dup, NM_001352637.1:c.*1519_*1520dup, NM_001352637.1:c.*1518_*1520dup, NM_001352637.1:c.*1517_*1520dup, NM_001352637.1:c.*1516_*1520dup, NM_001352637.1:c.*1515_*1520dup, NM_001352637.1:c.*1514_*1520dup, NM_001352637.1:c.*1512_*1520dup, NM_001352637.1:c.*1511_*1520dup, NM_001352639.2:c.*1506_*1520del, NM_001352639.2:c.*1507_*1520del, NM_001352639.2:c.*1508_*1520del, NM_001352639.2:c.*1509_*1520del, NM_001352639.2:c.*1510_*1520del, NM_001352639.2:c.*1511_*1520del, NM_001352639.2:c.*1512_*1520del, NM_001352639.2:c.*1513_*1520del, NM_001352639.2:c.*1514_*1520del, NM_001352639.2:c.*1515_*1520del, NM_001352639.2:c.*1516_*1520del, NM_001352639.2:c.*1517_*1520del, NM_001352639.2:c.*1518_*1520del, NM_001352639.2:c.*1519_*1520del, NM_001352639.2:c.*1520del, NM_001352639.2:c.*1520dup, NM_001352639.2:c.*1519_*1520dup, NM_001352639.2:c.*1518_*1520dup, NM_001352639.2:c.*1517_*1520dup, NM_001352639.2:c.*1516_*1520dup, NM_001352639.2:c.*1515_*1520dup, NM_001352639.2:c.*1514_*1520dup, NM_001352639.2:c.*1512_*1520dup, NM_001352639.2:c.*1511_*1520dup, NM_001352639.1:c.*1506_*1520del, NM_001352639.1:c.*1507_*1520del, NM_001352639.1:c.*1508_*1520del, NM_001352639.1:c.*1509_*1520del, NM_001352639.1:c.*1510_*1520del, NM_001352639.1:c.*1511_*1520del, NM_001352639.1:c.*1512_*1520del, NM_001352639.1:c.*1513_*1520del, NM_001352639.1:c.*1514_*1520del, NM_001352639.1:c.*1515_*1520del, NM_001352639.1:c.*1516_*1520del, NM_001352639.1:c.*1517_*1520del, NM_001352639.1:c.*1518_*1520del, NM_001352639.1:c.*1519_*1520del, NM_001352639.1:c.*1520del, NM_001352639.1:c.*1520dup, NM_001352639.1:c.*1519_*1520dup, NM_001352639.1:c.*1518_*1520dup, NM_001352639.1:c.*1517_*1520dup, NM_001352639.1:c.*1516_*1520dup, NM_001352639.1:c.*1515_*1520dup, NM_001352639.1:c.*1514_*1520dup, NM_001352639.1:c.*1512_*1520dup, NM_001352639.1:c.*1511_*1520dup, NM_001352640.2:c.*1506_*1520del, NM_001352640.2:c.*1507_*1520del, NM_001352640.2:c.*1508_*1520del, NM_001352640.2:c.*1509_*1520del, NM_001352640.2:c.*1510_*1520del, NM_001352640.2:c.*1511_*1520del, NM_001352640.2:c.*1512_*1520del, NM_001352640.2:c.*1513_*1520del, NM_001352640.2:c.*1514_*1520del, NM_001352640.2:c.*1515_*1520del, NM_001352640.2:c.*1516_*1520del, NM_001352640.2:c.*1517_*1520del, NM_001352640.2:c.*1518_*1520del, NM_001352640.2:c.*1519_*1520del, NM_001352640.2:c.*1520del, NM_001352640.2:c.*1520dup, NM_001352640.2:c.*1519_*1520dup, NM_001352640.2:c.*1518_*1520dup, NM_001352640.2:c.*1517_*1520dup, NM_001352640.2:c.*1516_*1520dup, NM_001352640.2:c.*1515_*1520dup, NM_001352640.2:c.*1514_*1520dup, NM_001352640.2:c.*1512_*1520dup, NM_001352640.2:c.*1511_*1520dup, NM_001352640.1:c.*1506_*1520del, NM_001352640.1:c.*1507_*1520del, NM_001352640.1:c.*1508_*1520del, NM_001352640.1:c.*1509_*1520del, NM_001352640.1:c.*1510_*1520del, NM_001352640.1:c.*1511_*1520del, NM_001352640.1:c.*1512_*1520del, NM_001352640.1:c.*1513_*1520del, NM_001352640.1:c.*1514_*1520del, NM_001352640.1:c.*1515_*1520del, NM_001352640.1:c.*1516_*1520del, NM_001352640.1:c.*1517_*1520del, NM_001352640.1:c.*1518_*1520del, NM_001352640.1:c.*1519_*1520del, NM_001352640.1:c.*1520del, NM_001352640.1:c.*1520dup, NM_001352640.1:c.*1519_*1520dup, NM_001352640.1:c.*1518_*1520dup, NM_001352640.1:c.*1517_*1520dup, NM_001352640.1:c.*1516_*1520dup, NM_001352640.1:c.*1515_*1520dup, NM_001352640.1:c.*1514_*1520dup, NM_001352640.1:c.*1512_*1520dup, NM_001352640.1:c.*1511_*1520dup, NM_001352644.2:c.*1506_*1520del, NM_001352644.2:c.*1507_*1520del, NM_001352644.2:c.*1508_*1520del, NM_001352644.2:c.*1509_*1520del, NM_001352644.2:c.*1510_*1520del, NM_001352644.2:c.*1511_*1520del, NM_001352644.2:c.*1512_*1520del, NM_001352644.2:c.*1513_*1520del, NM_001352644.2:c.*1514_*1520del, NM_001352644.2:c.*1515_*1520del, NM_001352644.2:c.*1516_*1520del, NM_001352644.2:c.*1517_*1520del, NM_001352644.2:c.*1518_*1520del, NM_001352644.2:c.*1519_*1520del, NM_001352644.2:c.*1520del, NM_001352644.2:c.*1520dup, NM_001352644.2:c.*1519_*1520dup, NM_001352644.2:c.*1518_*1520dup, NM_001352644.2:c.*1517_*1520dup, NM_001352644.2:c.*1516_*1520dup, NM_001352644.2:c.*1515_*1520dup, NM_001352644.2:c.*1514_*1520dup, NM_001352644.2:c.*1512_*1520dup, NM_001352644.2:c.*1511_*1520dup, NM_001352644.1:c.*1506_*1520del, NM_001352644.1:c.*1507_*1520del, NM_001352644.1:c.*1508_*1520del, NM_001352644.1:c.*1509_*1520del, NM_001352644.1:c.*1510_*1520del, NM_001352644.1:c.*1511_*1520del, NM_001352644.1:c.*1512_*1520del, NM_001352644.1:c.*1513_*1520del, NM_001352644.1:c.*1514_*1520del, NM_001352644.1:c.*1515_*1520del, NM_001352644.1:c.*1516_*1520del, NM_001352644.1:c.*1517_*1520del, NM_001352644.1:c.*1518_*1520del, NM_001352644.1:c.*1519_*1520del, NM_001352644.1:c.*1520del, NM_001352644.1:c.*1520dup, NM_001352644.1:c.*1519_*1520dup, NM_001352644.1:c.*1518_*1520dup, NM_001352644.1:c.*1517_*1520dup, NM_001352644.1:c.*1516_*1520dup, NM_001352644.1:c.*1515_*1520dup, NM_001352644.1:c.*1514_*1520dup, NM_001352644.1:c.*1512_*1520dup, NM_001352644.1:c.*1511_*1520dup, NM_001352641.2:c.*1506_*1520del, NM_001352641.2:c.*1507_*1520del, NM_001352641.2:c.*1508_*1520del, NM_001352641.2:c.*1509_*1520del, NM_001352641.2:c.*1510_*1520del, NM_001352641.2:c.*1511_*1520del, NM_001352641.2:c.*1512_*1520del, NM_001352641.2:c.*1513_*1520del, NM_001352641.2:c.*1514_*1520del, NM_001352641.2:c.*1515_*1520del, NM_001352641.2:c.*1516_*1520del, NM_001352641.2:c.*1517_*1520del, NM_001352641.2:c.*1518_*1520del, NM_001352641.2:c.*1519_*1520del, NM_001352641.2:c.*1520del, NM_001352641.2:c.*1520dup, NM_001352641.2:c.*1519_*1520dup, NM_001352641.2:c.*1518_*1520dup, NM_001352641.2:c.*1517_*1520dup, NM_001352641.2:c.*1516_*1520dup, NM_001352641.2:c.*1515_*1520dup, NM_001352641.2:c.*1514_*1520dup, NM_001352641.2:c.*1512_*1520dup, NM_001352641.2:c.*1511_*1520dup, NM_001352641.1:c.*1506_*1520del, NM_001352641.1:c.*1507_*1520del, NM_001352641.1:c.*1508_*1520del, NM_001352641.1:c.*1509_*1520del, NM_001352641.1:c.*1510_*1520del, NM_001352641.1:c.*1511_*1520del, NM_001352641.1:c.*1512_*1520del, NM_001352641.1:c.*1513_*1520del, NM_001352641.1:c.*1514_*1520del, NM_001352641.1:c.*1515_*1520del, NM_001352641.1:c.*1516_*1520del, NM_001352641.1:c.*1517_*1520del, NM_001352641.1:c.*1518_*1520del, NM_001352641.1:c.*1519_*1520del, NM_001352641.1:c.*1520del, NM_001352641.1:c.*1520dup, NM_001352641.1:c.*1519_*1520dup, NM_001352641.1:c.*1518_*1520dup, NM_001352641.1:c.*1517_*1520dup, NM_001352641.1:c.*1516_*1520dup, NM_001352641.1:c.*1515_*1520dup, NM_001352641.1:c.*1514_*1520dup, NM_001352641.1:c.*1512_*1520dup, NM_001352641.1:c.*1511_*1520dup, NM_001352649.2:c.*1506_*1520del, NM_001352649.2:c.*1507_*1520del, NM_001352649.2:c.*1508_*1520del, NM_001352649.2:c.*1509_*1520del, NM_001352649.2:c.*1510_*1520del, NM_001352649.2:c.*1511_*1520del, NM_001352649.2:c.*1512_*1520del, NM_001352649.2:c.*1513_*1520del, NM_001352649.2:c.*1514_*1520del, NM_001352649.2:c.*1515_*1520del, NM_001352649.2:c.*1516_*1520del, NM_001352649.2:c.*1517_*1520del, NM_001352649.2:c.*1518_*1520del, NM_001352649.2:c.*1519_*1520del, NM_001352649.2:c.*1520del, NM_001352649.2:c.*1520dup, NM_001352649.2:c.*1519_*1520dup, NM_001352649.2:c.*1518_*1520dup, NM_001352649.2:c.*1517_*1520dup, NM_001352649.2:c.*1516_*1520dup, NM_001352649.2:c.*1515_*1520dup, NM_001352649.2:c.*1514_*1520dup, NM_001352649.2:c.*1512_*1520dup, NM_001352649.2:c.*1511_*1520dup, NM_001352649.1:c.*1506_*1520del, NM_001352649.1:c.*1507_*1520del, NM_001352649.1:c.*1508_*1520del, NM_001352649.1:c.*1509_*1520del, NM_001352649.1:c.*1510_*1520del, NM_001352649.1:c.*1511_*1520del, NM_001352649.1:c.*1512_*1520del, NM_001352649.1:c.*1513_*1520del, NM_001352649.1:c.*1514_*1520del, NM_001352649.1:c.*1515_*1520del, NM_001352649.1:c.*1516_*1520del, NM_001352649.1:c.*1517_*1520del, NM_001352649.1:c.*1518_*1520del, NM_001352649.1:c.*1519_*1520del, NM_001352649.1:c.*1520del, NM_001352649.1:c.*1520dup, NM_001352649.1:c.*1519_*1520dup, NM_001352649.1:c.*1518_*1520dup, NM_001352649.1:c.*1517_*1520dup, NM_001352649.1:c.*1516_*1520dup, NM_001352649.1:c.*1515_*1520dup, NM_001352649.1:c.*1514_*1520dup, NM_001352649.1:c.*1512_*1520dup, NM_001352649.1:c.*1511_*1520dup, NM_001352646.2:c.*1506_*1520del, NM_001352646.2:c.*1507_*1520del, NM_001352646.2:c.*1508_*1520del, NM_001352646.2:c.*1509_*1520del, NM_001352646.2:c.*1510_*1520del, NM_001352646.2:c.*1511_*1520del, NM_001352646.2:c.*1512_*1520del, NM_001352646.2:c.*1513_*1520del, NM_001352646.2:c.*1514_*1520del, NM_001352646.2:c.*1515_*1520del, NM_001352646.2:c.*1516_*1520del, NM_001352646.2:c.*1517_*1520del, NM_001352646.2:c.*1518_*1520del, NM_001352646.2:c.*1519_*1520del, NM_001352646.2:c.*1520del, NM_001352646.2:c.*1520dup, NM_001352646.2:c.*1519_*1520dup, NM_001352646.2:c.*1518_*1520dup, NM_001352646.2:c.*1517_*1520dup, NM_001352646.2:c.*1516_*1520dup, NM_001352646.2:c.*1515_*1520dup, NM_001352646.2:c.*1514_*1520dup, NM_001352646.2:c.*1512_*1520dup, NM_001352646.2:c.*1511_*1520dup, NM_001352646.1:c.*1506_*1520del, NM_001352646.1:c.*1507_*1520del, NM_001352646.1:c.*1508_*1520del, NM_001352646.1:c.*1509_*1520del, NM_001352646.1:c.*1510_*1520del, NM_001352646.1:c.*1511_*1520del, NM_001352646.1:c.*1512_*1520del, NM_001352646.1:c.*1513_*1520del, NM_001352646.1:c.*1514_*1520del, NM_001352646.1:c.*1515_*1520del, NM_001352646.1:c.*1516_*1520del, NM_001352646.1:c.*1517_*1520del, NM_001352646.1:c.*1518_*1520del, NM_001352646.1:c.*1519_*1520del, NM_001352646.1:c.*1520del, NM_001352646.1:c.*1520dup, NM_001352646.1:c.*1519_*1520dup, NM_001352646.1:c.*1518_*1520dup, NM_001352646.1:c.*1517_*1520dup, NM_001352646.1:c.*1516_*1520dup, NM_001352646.1:c.*1515_*1520dup, NM_001352646.1:c.*1514_*1520dup, NM_001352646.1:c.*1512_*1520dup, NM_001352646.1:c.*1511_*1520dup, NM_001352647.2:c.*1506_*1520del, NM_001352647.2:c.*1507_*1520del, NM_001352647.2:c.*1508_*1520del, NM_001352647.2:c.*1509_*1520del, NM_001352647.2:c.*1510_*1520del, NM_001352647.2:c.*1511_*1520del, NM_001352647.2:c.*1512_*1520del, NM_001352647.2:c.*1513_*1520del, NM_001352647.2:c.*1514_*1520del, NM_001352647.2:c.*1515_*1520del, NM_001352647.2:c.*1516_*1520del, NM_001352647.2:c.*1517_*1520del, NM_001352647.2:c.*1518_*1520del, NM_001352647.2:c.*1519_*1520del, NM_001352647.2:c.*1520del, NM_001352647.2:c.*1520dup, NM_001352647.2:c.*1519_*1520dup, NM_001352647.2:c.*1518_*1520dup, NM_001352647.2:c.*1517_*1520dup, NM_001352647.2:c.*1516_*1520dup, NM_001352647.2:c.*1515_*1520dup, NM_001352647.2:c.*1514_*1520dup, NM_001352647.2:c.*1512_*1520dup, NM_001352647.2:c.*1511_*1520dup, NM_001352647.1:c.*1506_*1520del, NM_001352647.1:c.*1507_*1520del, NM_001352647.1:c.*1508_*1520del, NM_001352647.1:c.*1509_*1520del, NM_001352647.1:c.*1510_*1520del, NM_001352647.1:c.*1511_*1520del, NM_001352647.1:c.*1512_*1520del, NM_001352647.1:c.*1513_*1520del, NM_001352647.1:c.*1514_*1520del, NM_001352647.1:c.*1515_*1520del, NM_001352647.1:c.*1516_*1520del, NM_001352647.1:c.*1517_*1520del, NM_001352647.1:c.*1518_*1520del, NM_001352647.1:c.*1519_*1520del, NM_001352647.1:c.*1520del, NM_001352647.1:c.*1520dup, NM_001352647.1:c.*1519_*1520dup, NM_001352647.1:c.*1518_*1520dup, NM_001352647.1:c.*1517_*1520dup, NM_001352647.1:c.*1516_*1520dup, NM_001352647.1:c.*1515_*1520dup, NM_001352647.1:c.*1514_*1520dup, NM_001352647.1:c.*1512_*1520dup, NM_001352647.1:c.*1511_*1520dup, NM_001315508.2:c.*1506_*1520del, NM_001315508.2:c.*1507_*1520del, NM_001315508.2:c.*1508_*1520del, NM_001315508.2:c.*1509_*1520del, NM_001315508.2:c.*1510_*1520del, NM_001315508.2:c.*1511_*1520del, NM_001315508.2:c.*1512_*1520del, NM_001315508.2:c.*1513_*1520del, NM_001315508.2:c.*1514_*1520del, NM_001315508.2:c.*1515_*1520del, NM_001315508.2:c.*1516_*1520del, NM_001315508.2:c.*1517_*1520del, NM_001315508.2:c.*1518_*1520del, NM_001315508.2:c.*1519_*1520del, NM_001315508.2:c.*1520del, NM_001315508.2:c.*1520dup, NM_001315508.2:c.*1519_*1520dup, NM_001315508.2:c.*1518_*1520dup, NM_001315508.2:c.*1517_*1520dup, NM_001315508.2:c.*1516_*1520dup, NM_001315508.2:c.*1515_*1520dup, NM_001315508.2:c.*1514_*1520dup, NM_001315508.2:c.*1512_*1520dup, NM_001315508.2:c.*1511_*1520dup, NM_001315508.1:c.*1506_*1520del, NM_001315508.1:c.*1507_*1520del, NM_001315508.1:c.*1508_*1520del, NM_001315508.1:c.*1509_*1520del, NM_001315508.1:c.*1510_*1520del, NM_001315508.1:c.*1511_*1520del, NM_001315508.1:c.*1512_*1520del, NM_001315508.1:c.*1513_*1520del, NM_001315508.1:c.*1514_*1520del, NM_001315508.1:c.*1515_*1520del, NM_001315508.1:c.*1516_*1520del, NM_001315508.1:c.*1517_*1520del, NM_001315508.1:c.*1518_*1520del, NM_001315508.1:c.*1519_*1520del, NM_001315508.1:c.*1520del, NM_001315508.1:c.*1520dup, NM_001315508.1:c.*1519_*1520dup, NM_001315508.1:c.*1518_*1520dup, NM_001315508.1:c.*1517_*1520dup, NM_001315508.1:c.*1516_*1520dup, NM_001315508.1:c.*1515_*1520dup, NM_001315508.1:c.*1514_*1520dup, NM_001315508.1:c.*1512_*1520dup, NM_001315508.1:c.*1511_*1520dup

Select item 149121814416.

rs1491218144 [Homo sapiens]

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

Select item 149119473017.

rs1491194730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:18005358 (GRCh38)
8:17862868 (GRCh37)
Canonical SPDI:: NC_000008.11:18005358:T:TGT
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000101/3 (GnomAD)
HGVS:: NC_000008.11:g.18005359_18005360insGT, NC_000008.10:g.17862868_17862869insGT, NG_027690.2:g.87373_87374insGT, NG_027690.1:g.87503_87504insGT

Select item 149118798518.

rs1491187985 has merged into rs71519940 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:18018867 (GRCh38)
8:17876376 (GRCh37)
Canonical SPDI:: NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000008.11:18018852:TATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.18018853TA[7], NC_000008.11:g.18018853TA[9], NC_000008.11:g.18018853TA[10], NC_000008.11:g.18018853TA[11], NC_000008.11:g.18018853TA[12], NC_000008.11:g.18018853TA[13], NC_000008.11:g.18018853TA[15], NC_000008.11:g.18018853TA[16], NC_000008.11:g.18018853TA[17], NC_000008.11:g.18018853TA[18], NC_000008.11:g.18018853TA[19], NC_000008.11:g.18018853TA[20], NC_000008.11:g.18018853TA[21], NC_000008.10:g.17876362TA[7], NC_000008.10:g.17876362TA[9], NC_000008.10:g.17876362TA[10], NC_000008.10:g.17876362TA[11], NC_000008.10:g.17876362TA[12], NC_000008.10:g.17876362TA[13], NC_000008.10:g.17876362TA[15], NC_000008.10:g.17876362TA[16], NC_000008.10:g.17876362TA[17], NC_000008.10:g.17876362TA[18], NC_000008.10:g.17876362TA[19], NC_000008.10:g.17876362TA[20], NC_000008.10:g.17876362TA[21], NG_027690.2:g.100867TA[7], NG_027690.2:g.100867TA[9], NG_027690.2:g.100867TA[10], NG_027690.2:g.100867TA[11], NG_027690.2:g.100867TA[12], NG_027690.2:g.100867TA[13], NG_027690.2:g.100867TA[15], NG_027690.2:g.100867TA[16], NG_027690.2:g.100867TA[17], NG_027690.2:g.100867TA[18], NG_027690.2:g.100867TA[19], NG_027690.2:g.100867TA[20], NG_027690.2:g.100867TA[21], NG_027690.1:g.100997TA[7], NG_027690.1:g.100997TA[9], NG_027690.1:g.100997TA[10], NG_027690.1:g.100997TA[11], NG_027690.1:g.100997TA[12], NG_027690.1:g.100997TA[13], NG_027690.1:g.100997TA[15], NG_027690.1:g.100997TA[16], NG_027690.1:g.100997TA[17], NG_027690.1:g.100997TA[18], NG_027690.1:g.100997TA[19], NG_027690.1:g.100997TA[20], NG_027690.1:g.100997TA[21]

Select item 149117754619.

rs1491177546 has merged into rs71545509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 8:18018909 (GRCh38)
8:17876418 (GRCh37)
Canonical SPDI:: NC_000008.11:18018899:ATATATATATATA:ATATATATA,NC_000008.11:18018899:ATATATATATATA:ATATATATATA,NC_000008.11:18018899:ATATATATATATA:ATATATATATATATA,NC_000008.11:18018899:ATATATATATATA:ATATATATATATATATA,NC_000008.11:18018899:ATATATATATATA:ATATATATATATATATATA
Gene:: PCM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.02034/12 (NorthernSweden)
HGVS:: NC_000008.11:g.18018901TA[4], NC_000008.11:g.18018901TA[5], NC_000008.11:g.18018901TA[7], NC_000008.11:g.18018901TA[8], NC_000008.11:g.18018901TA[9], NC_000008.10:g.17876410TA[4], NC_000008.10:g.17876410TA[5], NC_000008.10:g.17876410TA[7], NC_000008.10:g.17876410TA[8], NC_000008.10:g.17876410TA[9], NG_027690.2:g.100915TA[4], NG_027690.2:g.100915TA[5], NG_027690.2:g.100915TA[7], NG_027690.2:g.100915TA[8], NG_027690.2:g.100915TA[9], NG_027690.1:g.101045TA[4], NG_027690.1:g.101045TA[5], NG_027690.1:g.101045TA[7], NG_027690.1:g.101045TA[8], NG_027690.1:g.101045TA[9]

Select item 149117442620.

rs1491174426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGT [Show Flanks]
Chromosome:: 8:18028272 (GRCh38)
8:17885782 (GRCh37)
Canonical SPDI:: NC_000008.11:18028272:TAAGT:TAAGTAAGT
Gene:: PCM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAGTAAGT=0./0 (ALFA)
TAAG=0.000007/1 (GnomAD)
TAAG=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.18028274_18028277dup, NC_000008.10:g.17885783_17885786dup, NG_027690.2:g.110288_110291dup, NG_027690.1:g.110418_110421dup, NM_006197.4:c.*612_*615dup, NM_006197.3:c.*612_*615dup, NM_001352650.2:c.*612_*615dup, NM_001352650.1:c.*612_*615dup, NM_001352633.2:c.*612_*615dup, NM_001352633.1:c.*612_*615dup, NM_001352653.2:c.*612_*615dup, NM_001352653.1:c.*612_*615dup, NM_001352635.2:c.*612_*615dup, NM_001352635.1:c.*612_*615dup, NM_001352638.2:c.*612_*615dup, NM_001352638.1:c.*612_*615dup, NM_001352645.2:c.*612_*615dup, NM_001352645.1:c.*612_*615dup, NM_001352648.2:c.*612_*615dup, NM_001352648.1:c.*612_*615dup, NM_001352651.2:c.*612_*615dup, NM_001352651.1:c.*612_*615dup, NM_001352652.2:c.*612_*615dup, NM_001352652.1:c.*612_*615dup, NM_001352642.2:c.*612_*615dup, NM_001352642.1:c.*612_*615dup, NM_001352632.2:c.*612_*615dup, NM_001352632.1:c.*612_*615dup, NM_001352634.2:c.*612_*615dup, NM_001352634.1:c.*612_*615dup, NM_001315507.2:c.*612_*615dup, NM_001315507.1:c.*612_*615dup, NR_148032.2:n.6944_6947dup, NR_148032.1:n.7075_7078dup, NM_001352636.2:c.*612_*615dup, NM_001352636.1:c.*612_*615dup, NM_001352637.2:c.*612_*615dup, NM_001352637.1:c.*612_*615dup, NM_001352639.2:c.*612_*615dup, NM_001352639.1:c.*612_*615dup, NM_001352640.2:c.*612_*615dup, NM_001352640.1:c.*612_*615dup, NM_001352644.2:c.*612_*615dup, NM_001352644.1:c.*612_*615dup, NM_001352641.2:c.*612_*615dup, NM_001352641.1:c.*612_*615dup, NM_001352649.2:c.*612_*615dup, NM_001352649.1:c.*612_*615dup, NM_001352646.2:c.*612_*615dup, NM_001352646.1:c.*612_*615dup, NM_001352647.2:c.*612_*615dup, NM_001352647.1:c.*612_*615dup, NM_001315508.2:c.*612_*615dup, NM_001315508.1:c.*612_*615dup

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