SNP Links for Gene (Select 10512) - SNP

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Select item 14915745841.

rs1491574584 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 7:80820053 (GRCh38)
7:80449369 (GRCh37)
Canonical SPDI:: NC_000007.14:80820052:CC:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.80820053_80820054del, NC_000007.13:g.80449369_80449370del, NG_054744.2:g.107335_107336del, NG_054744.1:g.107326_107327del

Select item 14915677392.

rs1491567739 has merged into rs58398775 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
Chromosome:: 7:80818069 (GRCh38)
7:80447385 (GRCh37)
Canonical SPDI:: NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:80818057:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.04211/153 (1000Genomes)
HGVS:: NC_000007.14:g.80818059CA[5], NC_000007.14:g.80818059CA[6], NC_000007.14:g.80818059CA[7], NC_000007.14:g.80818059CA[8], NC_000007.14:g.80818059CA[9], NC_000007.14:g.80818059CA[10], NC_000007.14:g.80818059CA[12], NC_000007.14:g.80818059CA[13], NC_000007.14:g.80818059CA[14], NC_000007.14:g.80818059CA[15], NC_000007.13:g.80447375CA[5], NC_000007.13:g.80447375CA[6], NC_000007.13:g.80447375CA[7], NC_000007.13:g.80447375CA[8], NC_000007.13:g.80447375CA[9], NC_000007.13:g.80447375CA[10], NC_000007.13:g.80447375CA[12], NC_000007.13:g.80447375CA[13], NC_000007.13:g.80447375CA[14], NC_000007.13:g.80447375CA[15], NG_054744.2:g.109310GT[5], NG_054744.2:g.109310GT[6], NG_054744.2:g.109310GT[7], NG_054744.2:g.109310GT[8], NG_054744.2:g.109310GT[9], NG_054744.2:g.109310GT[10], NG_054744.2:g.109310GT[12], NG_054744.2:g.109310GT[13], NG_054744.2:g.109310GT[14], NG_054744.2:g.109310GT[15], NG_054744.1:g.109301GT[5], NG_054744.1:g.109301GT[6], NG_054744.1:g.109301GT[7], NG_054744.1:g.109301GT[8], NG_054744.1:g.109301GT[9], NG_054744.1:g.109301GT[10], NG_054744.1:g.109301GT[12], NG_054744.1:g.109301GT[13], NG_054744.1:g.109301GT[14], NG_054744.1:g.109301GT[15]

Select item 14915665463.

rs1491566546 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:80817997 (GRCh38)
7:80447313 (GRCh37)
Canonical SPDI:: NC_000007.14:80817995:AGA:A
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80817997_80817998del, NC_000007.13:g.80447313_80447314del, NG_054744.2:g.109392_109393del, NG_054744.1:g.109383_109384del

Select item 14915564534.

rs1491556453 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:80872797 (GRCh38)
7:80502113 (GRCh37)
Canonical SPDI:: NC_000007.14:80872796:CA:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.80872797_80872798del, NC_000007.13:g.80502113_80502114del, NG_054744.2:g.54591_54592del, NG_054744.1:g.54582_54583del

Select item 14915194365.

rs1491519436 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:80919570 (GRCh38)
7:80548886 (GRCh37)
Canonical SPDI:: NC_000007.14:80919568:TGT:T
Gene:: SEMA3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00004/5 (GnomAD)
HGVS:: NC_000007.14:g.80919570_80919571del, NC_000007.13:g.80548886_80548887del, NG_054744.2:g.7819_7820del, NG_054744.1:g.7810_7811del

Select item 14915056356.

rs1491505635 has merged into rs761990267 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCAAAATATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACCAACACATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAAACTAATAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACAAAATATTTTTTTAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAAAAGGAAAAAAAACACAAACCTTTTTTAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAGGAAAAAAAACCAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAACATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAACATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCAAAAACTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCCAATCCTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAACAAACATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAATAATAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAACAAACTTTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAACAAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTTAAAAAAAAAAAAACAAAAACTTTTTTTAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAGAATTAAAAAAAAAAAAAACAAAACCTTTTTTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAACAAAAATTATTGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACCAAAAAAAAGAATTTAAAGGAAAAAAAACCAAACCCTTTCTTAAAAGGGGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:80815566 (GRCh38)
7:80444882 (GRCh37)
Canonical SPDI:: NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCAAAATATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGGAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACCAACACATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAAACTAATAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACAAAATATTTTTTTAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAAAAGGAAAAAAAACACAAACCTTTTTTAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAGGAAAAAAAACCAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAACATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCAAAAACTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACCCAATCCTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAACAAACATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAATAATAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAACAAACTTTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAACAAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAACAAAAACTTTTTTTAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGAATTAAAAAAAAAAAAAACAAAACCTTTTTTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAACAAAAATTATTGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAGAATTTAAAGGAAAAAAAACCAAACCCTTTCTTAAAAGGGGAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80815554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000007.14:g.80815566_80815573del, NC_000007.14:g.80815567_80815573del, NC_000007.14:g.80815568_80815573del, NC_000007.14:g.80815569_80815573del, NC_000007.14:g.80815570_80815573del, NC_000007.14:g.80815571_80815573del, NC_000007.14:g.80815572_80815573del, NC_000007.14:g.80815573del, NC_000007.14:g.80815573dup, NC_000007.14:g.80815572_80815573dup, NC_000007.14:g.80815571_80815573dup, NC_000007.14:g.80815570_80815573dup, NC_000007.14:g.80815569_80815573dup, NC_000007.14:g.80815568_80815573dup, NC_000007.14:g.80815567_80815573dup, NC_000007.14:g.80815566_80815573dup, NC_000007.14:g.80815565_80815573dup, NC_000007.14:g.80815564_80815573dup, NC_000007.14:g.80815563_80815573dup, NC_000007.14:g.80815562_80815573dup, NC_000007.14:g.80815561_80815573dup, NC_000007.14:g.80815560_80815573dup, NC_000007.14:g.80815559_80815573dup, NC_000007.14:g.80815558_80815573dup, NC_000007.14:g.80815557_80815573dup, NC_000007.14:g.80815556_80815573dup, NC_000007.14:g.80815555_80815573dup, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815573_80815574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.80815555_80815573A[55]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[55]GAAAAAAAAACCAAAATATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[50]GGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[48]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[48]GGAAAGGGAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[47]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[47]GAAAAAAAACCAACACATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[46]CA[2]AAACTAATAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[44]GAAAAAAAAACAAAATATTTTTTTAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[42]T[4]ATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[41]CTATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[41]GAATTAAAAGGAAAAAAAACACAAACCTTTTTTAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[41]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[41]TTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[40]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[40]TAAAAGGAAAAAAAACCAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[38]CATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[37]GAAAAAAAAAAAAAAACATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[37]GAAAAAAAAACCAAAAACTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[37]GAAAAAAAAACCCAATCCTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[36]GAAAAAAAAAACAAACATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[35]GAAAAAAAA[2]A[9]TAA[2]AAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[33]GGAAAAAAAAACAAACTTTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[30]TTAAAAAAAAAAAAAACAAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[27]TTTAAAAAAAAAAAAACAAAAACTTTTTTTAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[26]GAAAAAAAAAAAGAATTAAAAAAAAAAAAAACAAAACCTTTTTTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[26]GAAAAAAA[2]AAACAAAAATTATTGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[25]CCAAAAAAAAGAATTTAAAGGAAAAAAAACCAAACCCTTTCTTAAAAGGGGAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.80815555_80815573A[24]TA[2]A[50], NC_000007.13:g.80444882_80444889del, NC_000007.13:g.80444883_80444889del, NC_000007.13:g.80444884_80444889del, NC_000007.13:g.80444885_80444889del, NC_000007.13:g.80444886_80444889del, NC_000007.13:g.80444887_80444889del, NC_000007.13:g.80444888_80444889del, NC_000007.13:g.80444889del, NC_000007.13:g.80444889dup, NC_000007.13:g.80444888_80444889dup, NC_000007.13:g.80444887_80444889dup, NC_000007.13:g.80444886_80444889dup, NC_000007.13:g.80444885_80444889dup, NC_000007.13:g.80444884_80444889dup, NC_000007.13:g.80444883_80444889dup, NC_000007.13:g.80444882_80444889dup, NC_000007.13:g.80444881_80444889dup, NC_000007.13:g.80444880_80444889dup, NC_000007.13:g.80444879_80444889dup, NC_000007.13:g.80444878_80444889dup, NC_000007.13:g.80444877_80444889dup, NC_000007.13:g.80444876_80444889dup, NC_000007.13:g.80444875_80444889dup, NC_000007.13:g.80444874_80444889dup, NC_000007.13:g.80444873_80444889dup, NC_000007.13:g.80444872_80444889dup, NC_000007.13:g.80444871_80444889dup, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444889_80444890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.80444871_80444889A[55]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[55]GAAAAAAAAACCAAAATATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[50]GGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[48]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[48]GGAAAGGGAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[47]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[47]GAAAAAAAACCAACACATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[46]CA[2]AAACTAATAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[44]GAAAAAAAAACAAAATATTTTTTTAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[42]T[4]ATAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[41]CTATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[41]GAATTAAAAGGAAAAAAAACACAAACCTTTTTTAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[41]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[41]TTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[40]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[40]TAAAAGGAAAAAAAACCAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[38]CATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[37]GAAAAAAAAAAAAAAACATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[37]GAAAAAAAAACCAAAAACTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[37]GAAAAAAAAACCCAATCCTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[36]GAAAAAAAAAACAAACATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[35]GAAAAAAAA[2]A[9]TAA[2]AAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[33]GGAAAAAAAAACAAACTTTTTATTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[30]TTAAAAAAAAAAAAAACAAAAACATTTTTTAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[27]TTTAAAAAAAAAAAAACAAAAACTTTTTTTAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[26]GAAAAAAAAAAAGAATTAAAAAAAAAAAAAACAAAACCTTTTTTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[26]GAAAAAAA[2]AAACAAAAATTATTGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[25]CCAAAAAAAAGAATTTAAAGGAAAAAAAACCAAACCCTTTCTTAAAAGGGGAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.80444871_80444889A[24]TA[2]A[50], NG_054744.2:g.111827_111834del, NG_054744.2:g.111828_111834del, NG_054744.2:g.111829_111834del, NG_054744.2:g.111830_111834del, NG_054744.2:g.111831_111834del, NG_054744.2:g.111832_111834del, NG_054744.2:g.111833_111834del, NG_054744.2:g.111834del, NG_054744.2:g.111834dup, NG_054744.2:g.111833_111834dup, NG_054744.2:g.111832_111834dup, NG_054744.2:g.111831_111834dup, NG_054744.2:g.111830_111834dup, NG_054744.2:g.111829_111834dup, NG_054744.2:g.111828_111834dup, NG_054744.2:g.111827_111834dup, NG_054744.2:g.111826_111834dup, NG_054744.2:g.111825_111834dup, NG_054744.2:g.111824_111834dup, NG_054744.2:g.111823_111834dup, NG_054744.2:g.111822_111834dup, NG_054744.2:g.111821_111834dup, NG_054744.2:g.111820_111834dup, NG_054744.2:g.111819_111834dup, NG_054744.2:g.111818_111834dup, NG_054744.2:g.111817_111834dup, NG_054744.2:g.111816_111834dup, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111834_111835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.111816_111834T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[46]AATA[2]T[4]GGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[47]CTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[20]CCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[41]CTTTTTTTTTTATGTGTTGGTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[41]CTTTTTTTATTAGTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[33]CT[2]T[4]A[7]TATTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[39]CTTTTTTATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[37]CTTTTTTTTTATAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[31]CCCTTTTTAAAAAAGGTTTGTGTTTTTTTTCCTTTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[47]ATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[51]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[37]CCTTTTTAAAAAATGTTTTGGTTTTTTTTCCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[49]AT[2]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[47]ATTAATGTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[49]A[4]GTTTTTGGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[39]CCTTTTTAATAAAGGATTGGGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[44]AATAAATGTTTGTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[38]CCTTTTTATTATTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[28]CCTTTTTAATAAAAAGTTTGTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[30]CCTTTTTAAAAAATGTTTTTGTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[34]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[28]CCCTTTTAAAAAAAGTTTTTGTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[29]CTTTTTAAAAAAAGGTTTTGTTTTTTTTTTTTTTAATTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[27]CTTTTTTTCAATAATTTTTGTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[20]C[4]T[4]AAGAAAGGGTTTGGTTTTTTTTCCTTTAAATTCTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[48]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.2:g.111816_111834T[51]AT[2]T[23], NG_054744.1:g.111818_111825del, NG_054744.1:g.111819_111825del, NG_054744.1:g.111820_111825del, NG_054744.1:g.111821_111825del, NG_054744.1:g.111822_111825del, NG_054744.1:g.111823_111825del, NG_054744.1:g.111824_111825del, NG_054744.1:g.111825del, NG_054744.1:g.111825dup, NG_054744.1:g.111824_111825dup, NG_054744.1:g.111823_111825dup, NG_054744.1:g.111822_111825dup, NG_054744.1:g.111821_111825dup, NG_054744.1:g.111820_111825dup, NG_054744.1:g.111819_111825dup, NG_054744.1:g.111818_111825dup, NG_054744.1:g.111817_111825dup, NG_054744.1:g.111816_111825dup, NG_054744.1:g.111815_111825dup, NG_054744.1:g.111814_111825dup, NG_054744.1:g.111813_111825dup, NG_054744.1:g.111812_111825dup, NG_054744.1:g.111811_111825dup, NG_054744.1:g.111810_111825dup, NG_054744.1:g.111809_111825dup, NG_054744.1:g.111808_111825dup, NG_054744.1:g.111807_111825dup, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111825_111826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.1:g.111807_111825T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[46]AATA[2]T[4]GGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[47]CTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[20]CCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[41]CTTTTTTTTTTATGTGTTGGTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[41]CTTTTTTTATTAGTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[33]CT[2]T[4]A[7]TATTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[39]CTTTTTTATAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[37]CTTTTTTTTTATAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[31]CCCTTTTTAAAAAAGGTTTGTGTTTTTTTTCCTTTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[47]ATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[51]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[37]CCTTTTTAAAAAATGTTTTGGTTTTTTTTCCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[49]AT[2]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[47]ATTAATGTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[49]A[4]GTTTTTGGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[39]CCTTTTTAATAAAGGATTGGGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[44]AATAAATGTTTGTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[38]CCTTTTTATTATTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[28]CCTTTTTAATAAAAAGTTTGTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[30]CCTTTTTAAAAAATGTTTTTGTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[34]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[28]CCCTTTTAAAAAAAGTTTTTGTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[29]CTTTTTAAAAAAAGGTTTTGTTTTTTTTTTTTTTAATTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[27]CTTTTTTTCAATAATTTTTGTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[20]C[4]T[4]AAGAAAGGGTTTGGTTTTTTTTCCTTTAAATTCTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[48]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054744.1:g.111807_111825T[51]AT[2]T[23]

Select item 14914877677.

rs1491487767 has merged into rs759493406 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 7:80827392 (GRCh38)
7:80456708 (GRCh37)
Canonical SPDI:: NC_000007.14:80827389:GTGT:GT,NC_000007.14:80827389:GTGT:GTGTGT
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.80827390GT[1], NC_000007.14:g.80827390GT[3], NC_000007.13:g.80456706GT[1], NC_000007.13:g.80456706GT[3], NG_054744.2:g.99996AC[1], NG_054744.2:g.99996AC[3], NG_054744.1:g.99987AC[1], NG_054744.1:g.99987AC[3]

Select item 14913729178.

rs1491372917 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:80851504 (GRCh38)
7:80480820 (GRCh37)
Canonical SPDI:: NC_000007.14:80851503:TA:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000007.14:g.80851504_80851505del, NC_000007.13:g.80480820_80480821del, NG_054744.2:g.75884_75885del, NG_054744.1:g.75875_75876del

Select item 14913698269.

rs1491369826 has merged into rs36066966 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:80827403 (GRCh38)
7:80456719 (GRCh37)
Canonical SPDI:: NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:80827392:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.3746/1876 (1000Genomes)
HGVS:: NC_000007.14:g.80827403_80827415del, NC_000007.14:g.80827405_80827415del, NC_000007.14:g.80827406_80827415del, NC_000007.14:g.80827407_80827415del, NC_000007.14:g.80827408_80827415del, NC_000007.14:g.80827409_80827415del, NC_000007.14:g.80827410_80827415del, NC_000007.14:g.80827411_80827415del, NC_000007.14:g.80827412_80827415del, NC_000007.14:g.80827413_80827415del, NC_000007.14:g.80827414_80827415del, NC_000007.14:g.80827415del, NC_000007.14:g.80827415dup, NC_000007.14:g.80827414_80827415dup, NC_000007.14:g.80827413_80827415dup, NC_000007.14:g.80827412_80827415dup, NC_000007.14:g.80827410_80827415dup, NC_000007.14:g.80827408_80827415dup, NC_000007.14:g.80827407_80827415dup, NC_000007.14:g.80827393_80827415T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.80827415_80827416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.80827415_80827416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.80456719_80456731del, NC_000007.13:g.80456721_80456731del, NC_000007.13:g.80456722_80456731del, NC_000007.13:g.80456723_80456731del, NC_000007.13:g.80456724_80456731del, NC_000007.13:g.80456725_80456731del, NC_000007.13:g.80456726_80456731del, NC_000007.13:g.80456727_80456731del, NC_000007.13:g.80456728_80456731del, NC_000007.13:g.80456729_80456731del, NC_000007.13:g.80456730_80456731del, NC_000007.13:g.80456731del, NC_000007.13:g.80456731dup, NC_000007.13:g.80456730_80456731dup, NC_000007.13:g.80456729_80456731dup, NC_000007.13:g.80456728_80456731dup, NC_000007.13:g.80456726_80456731dup, NC_000007.13:g.80456724_80456731dup, NC_000007.13:g.80456723_80456731dup, NC_000007.13:g.80456709_80456731T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.80456731_80456732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.80456731_80456732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054744.2:g.99984_99996del, NG_054744.2:g.99986_99996del, NG_054744.2:g.99987_99996del, NG_054744.2:g.99988_99996del, NG_054744.2:g.99989_99996del, NG_054744.2:g.99990_99996del, NG_054744.2:g.99991_99996del, NG_054744.2:g.99992_99996del, NG_054744.2:g.99993_99996del, NG_054744.2:g.99994_99996del, NG_054744.2:g.99995_99996del, NG_054744.2:g.99996del, NG_054744.2:g.99996dup, NG_054744.2:g.99995_99996dup, NG_054744.2:g.99994_99996dup, NG_054744.2:g.99993_99996dup, NG_054744.2:g.99991_99996dup, NG_054744.2:g.99989_99996dup, NG_054744.2:g.99988_99996dup, NG_054744.2:g.99974_99996A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_054744.2:g.99996_99997insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054744.2:g.99996_99997insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054744.1:g.99975_99987del, NG_054744.1:g.99977_99987del, NG_054744.1:g.99978_99987del, NG_054744.1:g.99979_99987del, NG_054744.1:g.99980_99987del, NG_054744.1:g.99981_99987del, NG_054744.1:g.99982_99987del, NG_054744.1:g.99983_99987del, NG_054744.1:g.99984_99987del, NG_054744.1:g.99985_99987del, NG_054744.1:g.99986_99987del, NG_054744.1:g.99987del, NG_054744.1:g.99987dup, NG_054744.1:g.99986_99987dup, NG_054744.1:g.99985_99987dup, NG_054744.1:g.99984_99987dup, NG_054744.1:g.99982_99987dup, NG_054744.1:g.99980_99987dup, NG_054744.1:g.99979_99987dup, NG_054744.1:g.99965_99987A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_054744.1:g.99987_99988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054744.1:g.99987_99988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149136944110.

rs1491369441 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:80881163 (GRCh38)
7:80510480 (GRCh37)
Canonical SPDI:: NC_000007.14:80881163::C
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000672/3 (ALFA)
C=0.000217/26 (GnomAD)
HGVS:: NC_000007.14:g.80881163_80881164insC, NC_000007.13:g.80510479_80510480insC, NG_054744.2:g.46225_46226insG, NG_054744.1:g.46216_46217insG

Select item 149136623311.

rs1491366233 has merged into rs150994998 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTGTTTGTTT>-,GTTT,GTTTGTTT,GTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTT [Show Flanks]
Chromosome:: 7:80753940 (GRCh38)
7:80383256 (GRCh37)
Canonical SPDI:: NC_000007.14:80753924:TTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTT,NC_000007.14:80753924:TTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTT,NC_000007.14:80753924:TTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:80753924:TTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:80753924:TTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTGTTTGTTTGTTT=0./0 (ALFA)
-=0.00125/4 (1000Genomes)
TTTG=0.25333/152 (NorthernSweden)
TTTG=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.80753928GTTT[3], NC_000007.14:g.80753928GTTT[4], NC_000007.14:g.80753928GTTT[5], NC_000007.14:g.80753928GTTT[7], NC_000007.14:g.80753928GTTT[8], NC_000007.13:g.80383244GTTT[3], NC_000007.13:g.80383244GTTT[4], NC_000007.13:g.80383244GTTT[5], NC_000007.13:g.80383244GTTT[7], NC_000007.13:g.80383244GTTT[8], NG_054744.2:g.173441CAAA[3], NG_054744.2:g.173441CAAA[4], NG_054744.2:g.173441CAAA[5], NG_054744.2:g.173441CAAA[7], NG_054744.2:g.173441CAAA[8], NG_054744.1:g.173432CAAA[3], NG_054744.1:g.173432CAAA[4], NG_054744.1:g.173432CAAA[5], NG_054744.1:g.173432CAAA[7], NG_054744.1:g.173432CAAA[8]

Select item 149135578112.

rs1491355781 has merged into rs1293174938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:80769877 (GRCh38)
7:80399193 (GRCh37)
Canonical SPDI:: NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:80769864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.80769877_80769888del, NC_000007.14:g.80769879_80769888del, NC_000007.14:g.80769880_80769888del, NC_000007.14:g.80769882_80769888del, NC_000007.14:g.80769884_80769888del, NC_000007.14:g.80769885_80769888del, NC_000007.14:g.80769886_80769888del, NC_000007.14:g.80769887_80769888del, NC_000007.14:g.80769888del, NC_000007.14:g.80769888dup, NC_000007.14:g.80769887_80769888dup, NC_000007.14:g.80769886_80769888dup, NC_000007.14:g.80769885_80769888dup, NC_000007.14:g.80769884_80769888dup, NC_000007.14:g.80769883_80769888dup, NC_000007.14:g.80769882_80769888dup, NC_000007.14:g.80769881_80769888dup, NC_000007.13:g.80399193_80399204del, NC_000007.13:g.80399195_80399204del, NC_000007.13:g.80399196_80399204del, NC_000007.13:g.80399198_80399204del, NC_000007.13:g.80399200_80399204del, NC_000007.13:g.80399201_80399204del, NC_000007.13:g.80399202_80399204del, NC_000007.13:g.80399203_80399204del, NC_000007.13:g.80399204del, NC_000007.13:g.80399204dup, NC_000007.13:g.80399203_80399204dup, NC_000007.13:g.80399202_80399204dup, NC_000007.13:g.80399201_80399204dup, NC_000007.13:g.80399200_80399204dup, NC_000007.13:g.80399199_80399204dup, NC_000007.13:g.80399198_80399204dup, NC_000007.13:g.80399197_80399204dup, NG_054744.2:g.157513_157524del, NG_054744.2:g.157515_157524del, NG_054744.2:g.157516_157524del, NG_054744.2:g.157518_157524del, NG_054744.2:g.157520_157524del, NG_054744.2:g.157521_157524del, NG_054744.2:g.157522_157524del, NG_054744.2:g.157523_157524del, NG_054744.2:g.157524del, NG_054744.2:g.157524dup, NG_054744.2:g.157523_157524dup, NG_054744.2:g.157522_157524dup, NG_054744.2:g.157521_157524dup, NG_054744.2:g.157520_157524dup, NG_054744.2:g.157519_157524dup, NG_054744.2:g.157518_157524dup, NG_054744.2:g.157517_157524dup, NG_054744.1:g.157504_157515del, NG_054744.1:g.157506_157515del, NG_054744.1:g.157507_157515del, NG_054744.1:g.157509_157515del, NG_054744.1:g.157511_157515del, NG_054744.1:g.157512_157515del, NG_054744.1:g.157513_157515del, NG_054744.1:g.157514_157515del, NG_054744.1:g.157515del, NG_054744.1:g.157515dup, NG_054744.1:g.157514_157515dup, NG_054744.1:g.157513_157515dup, NG_054744.1:g.157512_157515dup, NG_054744.1:g.157511_157515dup, NG_054744.1:g.157510_157515dup, NG_054744.1:g.157509_157515dup, NG_054744.1:g.157508_157515dup

Select item 149134690013.

rs1491346900 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:80815554 (GRCh38)
7:80444870 (GRCh37)
Canonical SPDI:: NC_000007.14:80815553:CA:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.80815554_80815555del, NC_000007.13:g.80444870_80444871del, NG_054744.2:g.111834_111835del, NG_054744.1:g.111825_111826del

Select item 149129977014.

rs1491299770 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:80881164 (GRCh38)
7:80510480 (GRCh37)
Canonical SPDI:: NC_000007.14:80881162:AAA:A
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.80881164_80881165del, NC_000007.13:g.80510480_80510481del, NG_054744.2:g.46225_46226del, NG_054744.1:g.46216_46217del

Select item 149125406615.

rs1491254066 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:80749552 (GRCh38)
7:80378868 (GRCh37)
Canonical SPDI:: NC_000007.14:80749551:CT:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80749552_80749553del, NC_000007.13:g.80378868_80378869del, NG_054744.2:g.177836_177837del, NG_054744.1:g.177827_177828del

Select item 149120658916.

rs1491206589 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TA,TCA,TCAA [Show Flanks]
Chromosome:: 7:80872797 (GRCh38)
7:80502114 (GRCh37)
Canonical SPDI:: NC_000007.14:80872797::T,NC_000007.14:80872797::TA,NC_000007.14:80872797::TCA,NC_000007.14:80872797::TCAA
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000007.14:g.80872797_80872798insT, NC_000007.14:g.80872797_80872798insTA, NC_000007.14:g.80872797_80872798insTCA, NC_000007.14:g.80872797_80872798insTCAA, NC_000007.13:g.80502113_80502114insT, NC_000007.13:g.80502113_80502114insTA, NC_000007.13:g.80502113_80502114insTCA, NC_000007.13:g.80502113_80502114insTCAA, NG_054744.2:g.54591_54592insA, NG_054744.2:g.54591_54592insTA, NG_054744.2:g.54591_54592insTGA, NG_054744.2:g.54591_54592insTTGA, NG_054744.1:g.54582_54583insA, NG_054744.1:g.54582_54583insTA, NG_054744.1:g.54582_54583insTGA, NG_054744.1:g.54582_54583insTTGA

Select item 149120512017.

rs1491205120 has merged into rs150327711 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 7:80769861 (GRCh38)
7:80399177 (GRCh37)
Canonical SPDI:: NC_000007.14:80769855:CCCCCCCCC:CCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCCCCCCC,NC_000007.14:80769855:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.80769861_80769864del, NC_000007.14:g.80769862_80769864del, NC_000007.14:g.80769863_80769864del, NC_000007.14:g.80769864del, NC_000007.14:g.80769864dup, NC_000007.14:g.80769863_80769864dup, NC_000007.14:g.80769862_80769864dup, NC_000007.14:g.80769861_80769864dup, NC_000007.13:g.80399177_80399180del, NC_000007.13:g.80399178_80399180del, NC_000007.13:g.80399179_80399180del, NC_000007.13:g.80399180del, NC_000007.13:g.80399180dup, NC_000007.13:g.80399179_80399180dup, NC_000007.13:g.80399178_80399180dup, NC_000007.13:g.80399177_80399180dup, NG_054744.2:g.157530_157533del, NG_054744.2:g.157531_157533del, NG_054744.2:g.157532_157533del, NG_054744.2:g.157533del, NG_054744.2:g.157533dup, NG_054744.2:g.157532_157533dup, NG_054744.2:g.157531_157533dup, NG_054744.2:g.157530_157533dup, NG_054744.1:g.157521_157524del, NG_054744.1:g.157522_157524del, NG_054744.1:g.157523_157524del, NG_054744.1:g.157524del, NG_054744.1:g.157524dup, NG_054744.1:g.157523_157524dup, NG_054744.1:g.157522_157524dup, NG_054744.1:g.157521_157524dup

Select item 149118287818.

rs1491182878 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:80769855 (GRCh38)
7:80399171 (GRCh37)
Canonical SPDI:: NC_000007.14:80769854:TC:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.80769855_80769856del, NC_000007.13:g.80399171_80399172del, NG_054744.2:g.157533_157534del, NG_054744.1:g.157524_157525del

Select item 149115083519.

rs1491150835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACATA,CACACATA,CACATA,CATA [Show Flanks]
Chromosome:: 7:80750501 (GRCh38)
7:80379818 (GRCh37)
Canonical SPDI:: NC_000007.14:80750501:A:ACACACACATA,NC_000007.14:80750501:A:ACACACATA,NC_000007.14:80750501:A:ACACATA,NC_000007.14:80750501:A:ACATA
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACATA=0./0 (ALFA)
ACACAT=0.00074/12 (TOMMO)
HGVS:: NC_000007.14:g.80750502AC[4]ATA[1], NC_000007.14:g.80750502AC[3]ATA[1], NC_000007.14:g.80750502AC[2]ATA[1], NC_000007.14:g.80750502_80750503insCATA, NC_000007.13:g.80379818AC[4]ATA[1], NC_000007.13:g.80379818AC[3]ATA[1], NC_000007.13:g.80379818AC[2]ATA[1], NC_000007.13:g.80379818_80379819insCATA, NG_054744.2:g.176887_176888insATGTGTGTGT, NG_054744.2:g.176887_176888insATGTGTGT, NG_054744.2:g.176887_176888insATGTGT, NG_054744.2:g.176887_176888insATGT, NG_054744.1:g.176878_176879insATGTGTGTGT, NG_054744.1:g.176878_176879insATGTGTGT, NG_054744.1:g.176878_176879insATGTGT, NG_054744.1:g.176878_176879insATGT

Select item 149112503620.

rs1491125036 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:80752614 (GRCh38)
7:80381930 (GRCh37)
Canonical SPDI:: NC_000007.14:80752613:CA:
Gene:: SEMA3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00185/22 (ALFA)
HGVS:: NC_000007.14:g.80752614_80752615del, NC_000007.13:g.80381930_80381931del, NG_054744.2:g.174774_174775del, NG_054744.1:g.174765_174766del

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