U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 12930

1.

rs1491578010 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>-,TT [Show Flanks]
    Chromosome:
    20:18506035 (GRCh38)
    20:18486679 (GRCh37)
    Canonical SPDI:
    NC_000020.11:18506034:TTTTTTT:TTTTTT,NC_000020.11:18506034:TTTTTTT:TTTTTTTT
    Gene:
    SEC23B (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    -=0.000029/4 (GnomAD)
    -=0.000318/5 (TOMMO)
    HGVS:

    2.

    rs1491556735 has merged into rs398035473 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      20:18508726 (GRCh38)
      20:18489370 (GRCh37)
      Canonical SPDI:
      NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18508716:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      SEC23B (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.18508726_18508737del, NC_000020.11:g.18508727_18508737del, NC_000020.11:g.18508728_18508737del, NC_000020.11:g.18508729_18508737del, NC_000020.11:g.18508730_18508737del, NC_000020.11:g.18508731_18508737del, NC_000020.11:g.18508732_18508737del, NC_000020.11:g.18508733_18508737del, NC_000020.11:g.18508734_18508737del, NC_000020.11:g.18508735_18508737del, NC_000020.11:g.18508736_18508737del, NC_000020.11:g.18508737del, NC_000020.11:g.18508737dup, NC_000020.11:g.18508736_18508737dup, NC_000020.11:g.18508735_18508737dup, NC_000020.11:g.18508734_18508737dup, NC_000020.11:g.18508733_18508737dup, NC_000020.11:g.18508732_18508737dup, NC_000020.11:g.18508731_18508737dup, NC_000020.11:g.18508730_18508737dup, NC_000020.11:g.18508729_18508737dup, NC_000020.11:g.18508728_18508737dup, NC_000020.11:g.18508727_18508737dup, NC_000020.11:g.18508726_18508737dup, NC_000020.11:g.18508725_18508737dup, NC_000020.11:g.18508724_18508737dup, NC_000020.11:g.18508722_18508737dup, NC_000020.11:g.18508721_18508737dup, NC_000020.11:g.18508720_18508737dup, NC_000020.11:g.18508719_18508737dup, NC_000020.11:g.18508718_18508737dup, NC_000020.11:g.18508717_18508737dup, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18508737_18508738insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489370_18489381del, NC_000020.10:g.18489371_18489381del, NC_000020.10:g.18489372_18489381del, NC_000020.10:g.18489373_18489381del, NC_000020.10:g.18489374_18489381del, NC_000020.10:g.18489375_18489381del, NC_000020.10:g.18489376_18489381del, NC_000020.10:g.18489377_18489381del, NC_000020.10:g.18489378_18489381del, NC_000020.10:g.18489379_18489381del, NC_000020.10:g.18489380_18489381del, NC_000020.10:g.18489381del, NC_000020.10:g.18489381dup, NC_000020.10:g.18489380_18489381dup, NC_000020.10:g.18489379_18489381dup, NC_000020.10:g.18489378_18489381dup, NC_000020.10:g.18489377_18489381dup, NC_000020.10:g.18489376_18489381dup, NC_000020.10:g.18489375_18489381dup, NC_000020.10:g.18489374_18489381dup, NC_000020.10:g.18489373_18489381dup, NC_000020.10:g.18489372_18489381dup, NC_000020.10:g.18489371_18489381dup, NC_000020.10:g.18489370_18489381dup, NC_000020.10:g.18489369_18489381dup, NC_000020.10:g.18489368_18489381dup, NC_000020.10:g.18489366_18489381dup, NC_000020.10:g.18489365_18489381dup, NC_000020.10:g.18489364_18489381dup, NC_000020.10:g.18489363_18489381dup, NC_000020.10:g.18489362_18489381dup, NC_000020.10:g.18489361_18489381dup, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18489381_18489382insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6245_6256del, NG_016281.2:g.6246_6256del, NG_016281.2:g.6247_6256del, NG_016281.2:g.6248_6256del, NG_016281.2:g.6249_6256del, NG_016281.2:g.6250_6256del, NG_016281.2:g.6251_6256del, NG_016281.2:g.6252_6256del, NG_016281.2:g.6253_6256del, NG_016281.2:g.6254_6256del, NG_016281.2:g.6255_6256del, NG_016281.2:g.6256del, NG_016281.2:g.6256dup, NG_016281.2:g.6255_6256dup, NG_016281.2:g.6254_6256dup, NG_016281.2:g.6253_6256dup, NG_016281.2:g.6252_6256dup, NG_016281.2:g.6251_6256dup, NG_016281.2:g.6250_6256dup, NG_016281.2:g.6249_6256dup, NG_016281.2:g.6248_6256dup, NG_016281.2:g.6247_6256dup, NG_016281.2:g.6246_6256dup, NG_016281.2:g.6245_6256dup, NG_016281.2:g.6244_6256dup, NG_016281.2:g.6243_6256dup, NG_016281.2:g.6241_6256dup, NG_016281.2:g.6240_6256dup, NG_016281.2:g.6239_6256dup, NG_016281.2:g.6238_6256dup, NG_016281.2:g.6237_6256dup, NG_016281.2:g.6236_6256dup, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.6256_6257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491548825 has merged into rs11477198 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        20:18557753 (GRCh38)
        20:18538397 (GRCh37)
        Canonical SPDI:
        NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SEC23B (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000020.11:g.18557753_18557761del, NC_000020.11:g.18557757_18557761del, NC_000020.11:g.18557759_18557761del, NC_000020.11:g.18557760_18557761del, NC_000020.11:g.18557761del, NC_000020.11:g.18557761dup, NC_000020.11:g.18557760_18557761dup, NC_000020.11:g.18557759_18557761dup, NC_000020.11:g.18557758_18557761dup, NC_000020.11:g.18557757_18557761dup, NC_000020.11:g.18557756_18557761dup, NC_000020.11:g.18557755_18557761dup, NC_000020.11:g.18557746_18557761T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.18557754_18557761dup, NC_000020.11:g.18557753_18557761dup, NC_000020.11:g.18557752_18557761dup, NC_000020.11:g.18557751_18557761dup, NC_000020.11:g.18557750_18557761dup, NC_000020.11:g.18557749_18557761dup, NC_000020.11:g.18557748_18557761dup, NC_000020.11:g.18557747_18557761dup, NC_000020.11:g.18557746_18557761T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1], NC_000020.11:g.18557746_18557761dup, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557746_18557761T[37]CTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538397_18538405del, NC_000020.10:g.18538401_18538405del, NC_000020.10:g.18538403_18538405del, NC_000020.10:g.18538404_18538405del, NC_000020.10:g.18538405del, NC_000020.10:g.18538405dup, NC_000020.10:g.18538404_18538405dup, NC_000020.10:g.18538403_18538405dup, NC_000020.10:g.18538402_18538405dup, NC_000020.10:g.18538401_18538405dup, NC_000020.10:g.18538400_18538405dup, NC_000020.10:g.18538399_18538405dup, NC_000020.10:g.18538390_18538405T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.18538398_18538405dup, NC_000020.10:g.18538397_18538405dup, NC_000020.10:g.18538396_18538405dup, NC_000020.10:g.18538395_18538405dup, NC_000020.10:g.18538394_18538405dup, NC_000020.10:g.18538393_18538405dup, NC_000020.10:g.18538392_18538405dup, NC_000020.10:g.18538391_18538405dup, NC_000020.10:g.18538390_18538405T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1], NC_000020.10:g.18538390_18538405dup, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538390_18538405T[37]CTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55272_55280del, NG_016281.2:g.55276_55280del, NG_016281.2:g.55278_55280del, NG_016281.2:g.55279_55280del, NG_016281.2:g.55280del, NG_016281.2:g.55280dup, NG_016281.2:g.55279_55280dup, NG_016281.2:g.55278_55280dup, NG_016281.2:g.55277_55280dup, NG_016281.2:g.55276_55280dup, NG_016281.2:g.55275_55280dup, NG_016281.2:g.55274_55280dup, NG_016281.2:g.55265_55280T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1], NG_016281.2:g.55273_55280dup, NG_016281.2:g.55272_55280dup, NG_016281.2:g.55271_55280dup, NG_016281.2:g.55270_55280dup, NG_016281.2:g.55269_55280dup, NG_016281.2:g.55268_55280dup, NG_016281.2:g.55267_55280dup, NG_016281.2:g.55266_55280dup, NG_016281.2:g.55265_55280T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1], NG_016281.2:g.55265_55280dup, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55265_55280T[37]CTTTTTTTTTTTTTTTTTTT[1], NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

        4.

        rs1491519013 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          20:18555678 (GRCh38)
          20:18536322 (GRCh37)
          Canonical SPDI:
          NC_000020.11:18555677:AT:
          Gene:
          SEC23B (Varview)
          Functional Consequence:
          intron_variant
          HGVS:

          5.

          rs1491417406 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT
            Chromosome:
            no mapping
            Canonical SPDI:

            6.

            rs1491404904 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              20:18518583 (GRCh38)
              20:18499228 (GRCh37)
              Canonical SPDI:
              NC_000020.11:18518583::G
              Gene:
              SEC23B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              HGVS:

              7.

              rs1491375583 has merged into rs57231166 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                20:18518593 (GRCh38)
                20:18499237 (GRCh37)
                Canonical SPDI:
                NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18518582:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                SEC23B (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTT=0./0 (ALFA)
                TTTTTTTTTT=0./0 (GENOME_DK)
                HGVS:
                NC_000020.11:g.18518593_18518605del, NC_000020.11:g.18518594_18518605del, NC_000020.11:g.18518595_18518605del, NC_000020.11:g.18518596_18518605del, NC_000020.11:g.18518597_18518605del, NC_000020.11:g.18518598_18518605del, NC_000020.11:g.18518599_18518605del, NC_000020.11:g.18518600_18518605del, NC_000020.11:g.18518601_18518605del, NC_000020.11:g.18518602_18518605del, NC_000020.11:g.18518603_18518605del, NC_000020.11:g.18518604_18518605del, NC_000020.11:g.18518605del, NC_000020.11:g.18518605dup, NC_000020.11:g.18518604_18518605dup, NC_000020.11:g.18518603_18518605dup, NC_000020.11:g.18518602_18518605dup, NC_000020.11:g.18518601_18518605dup, NC_000020.11:g.18518600_18518605dup, NC_000020.11:g.18518599_18518605dup, NC_000020.11:g.18518598_18518605dup, NC_000020.11:g.18518597_18518605dup, NC_000020.11:g.18518596_18518605dup, NC_000020.11:g.18518595_18518605dup, NC_000020.11:g.18518594_18518605dup, NC_000020.11:g.18518593_18518605dup, NC_000020.11:g.18518592_18518605dup, NC_000020.11:g.18518591_18518605dup, NC_000020.11:g.18518590_18518605dup, NC_000020.11:g.18518589_18518605dup, NC_000020.11:g.18518588_18518605dup, NC_000020.11:g.18518587_18518605dup, NC_000020.11:g.18518586_18518605dup, NC_000020.11:g.18518585_18518605dup, NC_000020.11:g.18518584_18518605dup, NC_000020.11:g.18518583_18518605dup, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.18518605_18518606insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499237_18499249del, NC_000020.10:g.18499238_18499249del, NC_000020.10:g.18499239_18499249del, NC_000020.10:g.18499240_18499249del, NC_000020.10:g.18499241_18499249del, NC_000020.10:g.18499242_18499249del, NC_000020.10:g.18499243_18499249del, NC_000020.10:g.18499244_18499249del, NC_000020.10:g.18499245_18499249del, NC_000020.10:g.18499246_18499249del, NC_000020.10:g.18499247_18499249del, NC_000020.10:g.18499248_18499249del, NC_000020.10:g.18499249del, NC_000020.10:g.18499249dup, NC_000020.10:g.18499248_18499249dup, NC_000020.10:g.18499247_18499249dup, NC_000020.10:g.18499246_18499249dup, NC_000020.10:g.18499245_18499249dup, NC_000020.10:g.18499244_18499249dup, NC_000020.10:g.18499243_18499249dup, NC_000020.10:g.18499242_18499249dup, NC_000020.10:g.18499241_18499249dup, NC_000020.10:g.18499240_18499249dup, NC_000020.10:g.18499239_18499249dup, NC_000020.10:g.18499238_18499249dup, NC_000020.10:g.18499237_18499249dup, NC_000020.10:g.18499236_18499249dup, NC_000020.10:g.18499235_18499249dup, NC_000020.10:g.18499234_18499249dup, NC_000020.10:g.18499233_18499249dup, NC_000020.10:g.18499232_18499249dup, NC_000020.10:g.18499231_18499249dup, NC_000020.10:g.18499230_18499249dup, NC_000020.10:g.18499229_18499249dup, NC_000020.10:g.18499228_18499249dup, NC_000020.10:g.18499227_18499249dup, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18499249_18499250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16112_16124del, NG_016281.2:g.16113_16124del, NG_016281.2:g.16114_16124del, NG_016281.2:g.16115_16124del, NG_016281.2:g.16116_16124del, NG_016281.2:g.16117_16124del, NG_016281.2:g.16118_16124del, NG_016281.2:g.16119_16124del, NG_016281.2:g.16120_16124del, NG_016281.2:g.16121_16124del, NG_016281.2:g.16122_16124del, NG_016281.2:g.16123_16124del, NG_016281.2:g.16124del, NG_016281.2:g.16124dup, NG_016281.2:g.16123_16124dup, NG_016281.2:g.16122_16124dup, NG_016281.2:g.16121_16124dup, NG_016281.2:g.16120_16124dup, NG_016281.2:g.16119_16124dup, NG_016281.2:g.16118_16124dup, NG_016281.2:g.16117_16124dup, NG_016281.2:g.16116_16124dup, NG_016281.2:g.16115_16124dup, NG_016281.2:g.16114_16124dup, NG_016281.2:g.16113_16124dup, NG_016281.2:g.16112_16124dup, NG_016281.2:g.16111_16124dup, NG_016281.2:g.16110_16124dup, NG_016281.2:g.16109_16124dup, NG_016281.2:g.16108_16124dup, NG_016281.2:g.16107_16124dup, NG_016281.2:g.16106_16124dup, NG_016281.2:g.16105_16124dup, NG_016281.2:g.16104_16124dup, NG_016281.2:g.16103_16124dup, NG_016281.2:g.16102_16124dup, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016281.2:g.16124_16125insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                8.

                rs1491345270 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->ATTT [Show Flanks]
                  Chromosome:
                  20:18508717 (GRCh38)
                  20:18489362 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:18508717:TTT:TTTATTT
                  Gene:
                  SEC23B (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTATTT=0./0 (ALFA)
                  TTTA=0.000004/1 (TOPMED)
                  TTTA=0.000182/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491299662 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    20:18555678 (GRCh38)
                    20:18536323 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:18555678:TTTTTTT:TTTTTTTT
                    Gene:
                    SEC23B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTT=0./0 (ALFA)
                    T=0.000015/4 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1491135199 has merged into rs1555792439 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ATAT>-,AT,ATATAT [Show Flanks]
                      Chromosome:
                      20:18560120 (GRCh38)
                      20:18540764 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:18560108:TATATATATATATAT:TATATATATAT,NC_000020.11:18560108:TATATATATATATAT:TATATATATATAT,NC_000020.11:18560108:TATATATATATATAT:TATATATATATATATAT
                      Gene:
                      SEC23B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TATATATATATAT=0./0 (ALFA)
                      -=0.000045/12 (TOPMED)
                      TA=0.016921/31 (Korea1K)
                      TA=0.022861/383 (TOMMO)
                      HGVS:

                      11.

                      rs1491077078 has merged into rs11482973 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAA>-,A,AAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        20:18531662 (GRCh38)
                        20:18512306 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:18531652:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        SEC23B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000020.11:g.18531662_18531671del, NC_000020.11:g.18531663_18531671del, NC_000020.11:g.18531665_18531671del, NC_000020.11:g.18531670_18531671del, NC_000020.11:g.18531671del, NC_000020.11:g.18531671dup, NC_000020.11:g.18531670_18531671dup, NC_000020.11:g.18531669_18531671dup, NC_000020.11:g.18531668_18531671dup, NC_000020.11:g.18531667_18531671dup, NC_000020.11:g.18531666_18531671dup, NC_000020.11:g.18531664_18531671dup, NC_000020.10:g.18512306_18512315del, NC_000020.10:g.18512307_18512315del, NC_000020.10:g.18512309_18512315del, NC_000020.10:g.18512314_18512315del, NC_000020.10:g.18512315del, NC_000020.10:g.18512315dup, NC_000020.10:g.18512314_18512315dup, NC_000020.10:g.18512313_18512315dup, NC_000020.10:g.18512312_18512315dup, NC_000020.10:g.18512311_18512315dup, NC_000020.10:g.18512310_18512315dup, NC_000020.10:g.18512308_18512315dup, NG_016281.2:g.29181_29190del, NG_016281.2:g.29182_29190del, NG_016281.2:g.29184_29190del, NG_016281.2:g.29189_29190del, NG_016281.2:g.29190del, NG_016281.2:g.29190dup, NG_016281.2:g.29189_29190dup, NG_016281.2:g.29188_29190dup, NG_016281.2:g.29187_29190dup, NG_016281.2:g.29186_29190dup, NG_016281.2:g.29185_29190dup, NG_016281.2:g.29183_29190dup

                        12.

                        rs1491048866 has merged into rs10691267 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GT>-,GTGT,GTGTGT,GTGTGTGT [Show Flanks]
                          Chromosome:
                          20:18560108 (GRCh38)
                          20:18540752 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:18560096:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000020.11:18560096:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:18560096:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:18560096:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
                          Gene:
                          SEC23B (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGTGTGT=0./0 (ALFA)
                          TGTGTG=0.00017/45 (TOPMED)
                          -=0.004911/22 (Estonian)
                          -=0.025/1 (GENOME_DK)
                          HGVS:

                          13.

                          rs1491016371 has merged into rs386393450 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
                            Chromosome:
                            20:18560124 (GRCh38)
                            20:18540768 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:18560122:TTTTT:T,NC_000020.11:18560122:TTTTT:TTT,NC_000020.11:18560122:TTTTT:TTTT,NC_000020.11:18560122:TTTTT:TTTTTT,NC_000020.11:18560122:TTTTT:TTTTTTT,NC_000020.11:18560122:TTTTT:TTTTTTTT
                            Gene:
                            SEC23B (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTT=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490965757 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              20:18561679 (GRCh38)
                              20:18542323 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:18561678:G:C
                              Gene:
                              SEC23B (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000142/2 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490950105 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TAGCAGGC>- [Show Flanks]
                                Chromosome:
                                20:18560425 (GRCh38)
                                20:18541069 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:18560423:CTAGCAGGC:C
                                Gene:
                                SEC23B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                -=0.000023/6 (TOPMED)
                                HGVS:

                                16.

                                rs1490941812 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CC>- [Show Flanks]
                                  Chromosome:
                                  20:18546198 (GRCh38)
                                  20:18526842 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:18546196:CCC:C
                                  Gene:
                                  SEC23B (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490832290 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    20:18518775 (GRCh38)
                                    20:18499419 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:18518774:A:G,NC_000020.11:18518774:A:T
                                    Gene:
                                    SEC23B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000023/6 (TOPMED)
                                    T=0.000342/1 (KOREAN)
                                    A=0.5/1 (SGDP_PRJ)
                                    HGVS:

                                    18.

                                    rs1490806417 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      20:18520823 (GRCh38)
                                      20:18501467 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:18520822:T:C
                                      Gene:
                                      SEC23B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490758526 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CAATTCTAATTAGATTACTGTGCAGTAAA>- [Show Flanks]
                                        Chromosome:
                                        20:18554967 (GRCh38)
                                        20:18535611 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:18554963:AAACAATTCTAATTAGATTACTGTGCAGTAAA:AAA
                                        Gene:
                                        SEC23B (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.00034/6 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490737594 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          20:18553637 (GRCh38)
                                          20:18534281 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:18553634:CACA:CA
                                          Gene:
                                          SEC23B (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CACA=0./0 (ALFA)
                                          -=0.000011/3 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...