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Items: 1 to 20 of 1000

1.

rs1491552238 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    17:44186089 (GRCh38)
    17:42263457 (GRCh37)
    Canonical SPDI:
    NC_000017.11:44186088:AC:
    Gene:
    TMUB2 (Varview), ASB16-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00025/3 (ALFA)
    HGVS:

    2.

    rs1491510019 has merged into rs58885394 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
      Chromosome:
      17:44185419 (GRCh38)
      17:42262787 (GRCh37)
      Canonical SPDI:
      NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:44185410:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
      Gene:
      TMUB2 (Varview), ASB16-AS1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      -=0.2/8 (GENOME_DK)
      -=0.25/150 (NorthernSweden)
      TT=0.4565/2286 (1000Genomes)
      HGVS:

      3.

      rs1491449750 has merged into rs370100314 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
        Chromosome:
        17:44188927 (GRCh38)
        17:42266295 (GRCh37)
        Canonical SPDI:
        NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:44188917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
        Gene:
        TMUB2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        -=0.275/11 (GENOME_DK)
        HGVS:

        4.

        rs1491441861 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          17:44186089 (GRCh38)
          17:42263458 (GRCh37)
          Canonical SPDI:
          NC_000017.11:44186089::G
          Gene:
          TMUB2 (Varview), ASB16-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:

          5.

          rs1491090912 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            17:44188918 (GRCh38)
            17:42266287 (GRCh37)
            Canonical SPDI:
            NC_000017.11:44188918::G
            Gene:
            TMUB2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000008/1 (GnomAD)
            HGVS:

            6.

            rs1490672921 has merged into rs34097625 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              17:44190360 (GRCh38)
              17:42267728 (GRCh37)
              Canonical SPDI:
              NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              TMUB2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000017.11:g.44190360_44190371del, NC_000017.11:g.44190361_44190371del, NC_000017.11:g.44190363_44190371del, NC_000017.11:g.44190364_44190371del, NC_000017.11:g.44190365_44190371del, NC_000017.11:g.44190366_44190371del, NC_000017.11:g.44190367_44190371del, NC_000017.11:g.44190368_44190371del, NC_000017.11:g.44190369_44190371del, NC_000017.11:g.44190370_44190371del, NC_000017.11:g.44190371del, NC_000017.11:g.44190371dup, NC_000017.11:g.44190370_44190371dup, NC_000017.11:g.44190369_44190371dup, NC_000017.11:g.44190368_44190371dup, NC_000017.11:g.44190367_44190371dup, NC_000017.11:g.44190366_44190371dup, NC_000017.11:g.44190365_44190371dup, NC_000017.10:g.42267728_42267739del, NC_000017.10:g.42267729_42267739del, NC_000017.10:g.42267731_42267739del, NC_000017.10:g.42267732_42267739del, NC_000017.10:g.42267733_42267739del, NC_000017.10:g.42267734_42267739del, NC_000017.10:g.42267735_42267739del, NC_000017.10:g.42267736_42267739del, NC_000017.10:g.42267737_42267739del, NC_000017.10:g.42267738_42267739del, NC_000017.10:g.42267739del, NC_000017.10:g.42267739dup, NC_000017.10:g.42267738_42267739dup, NC_000017.10:g.42267737_42267739dup, NC_000017.10:g.42267736_42267739dup, NC_000017.10:g.42267735_42267739dup, NC_000017.10:g.42267734_42267739dup, NC_000017.10:g.42267733_42267739dup

              7.

              rs1490342062 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:44191026 (GRCh38)
                17:42268394 (GRCh37)
                Canonical SPDI:
                NC_000017.11:44191025:C:T
                Gene:
                TMUB2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000015/4 (TOPMED)
                HGVS:
                NC_000017.11:g.44191026C>T, NC_000017.10:g.42268394C>T, NM_177441.4:c.*162C>T, NM_177441.3:c.*162C>T, NM_177441.2:c.*162C>T, NM_024107.4:c.*162C>T, NM_024107.3:c.*162C>T, NM_024107.2:c.*162C>T, XM_011525211.4:c.*494C>T, XM_011525211.3:c.*494C>T, XM_011525211.2:c.*494C>T, XM_011525201.3:c.*162C>T, XM_011525201.2:c.*162C>T, XM_011525201.1:c.*162C>T, NM_001076674.3:c.*162C>T, NM_001076674.2:c.*162C>T, NM_001076674.1:c.*162C>T, NM_001353189.2:c.*162C>T, NM_001353189.1:c.*162C>T, NM_001353181.2:c.*162C>T, NM_001353181.1:c.*162C>T, NM_001353187.2:c.*162C>T, NM_001353187.1:c.*162C>T, NM_001353191.2:c.*162C>T, NM_001353191.1:c.*162C>T, NM_001353176.2:c.*162C>T, NM_001353176.1:c.*162C>T, NR_148390.2:n.1432C>T, NR_148390.1:n.1439C>T, NM_001353188.2:c.*162C>T, NM_001353188.1:c.*162C>T, NM_001353178.2:c.*162C>T, NM_001353178.1:c.*162C>T, NM_001330235.2:c.*162C>T, NM_001330235.1:c.*162C>T, NM_001353177.2:c.*162C>T, NM_001353177.1:c.*162C>T, NM_001353180.2:c.*162C>T, NM_001353180.1:c.*162C>T, NM_001353190.2:c.*162C>T, NM_001353190.1:c.*162C>T, NM_001353182.2:c.*162C>T, NM_001353182.1:c.*162C>T, NR_148387.2:n.1278C>T, NR_148387.1:n.1299C>T, XM_024450930.2:c.*162C>T, XM_024450930.1:c.*162C>T, NR_148389.2:n.1200C>T, NR_148389.1:n.1221C>T, XM_024450929.2:c.*162C>T, XM_024450929.1:c.*162C>T, NR_148388.2:n.1033C>T, NR_148388.1:n.1040C>T, NM_001353186.2:c.*494C>T, NM_001353186.1:c.*494C>T, NR_148386.2:n.942C>T, NR_148386.1:n.963C>T, XM_047436706.1:c.*162C>T, XM_047436702.1:c.*162C>T, XM_047436705.1:c.*162C>T, XM_047436699.1:c.*162C>T, XM_047436708.1:c.*162C>T, XM_047436701.1:c.*162C>T, XM_047436711.1:c.*494C>T, XM_047436709.1:c.*162C>T, XM_047436712.1:c.*494C>T

                8.

                rs1490322479 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:44190315 (GRCh38)
                  17:42267683 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:44190314:C:T
                  Gene:
                  TMUB2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1490154441 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:44189344 (GRCh38)
                    17:42266712 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:44189343:T:C
                    Gene:
                    TMUB2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.44189344T>C, NC_000017.10:g.42266712T>C, NM_177441.4:c.298T>C, NM_177441.3:c.298T>C, NM_177441.2:c.298T>C, NM_024107.4:c.298T>C, NM_024107.3:c.298T>C, NM_024107.2:c.298T>C, XM_011525201.3:c.358T>C, XM_011525201.2:c.358T>C, XM_011525201.1:c.358T>C, NM_001076674.3:c.358T>C, NM_001076674.2:c.358T>C, NM_001076674.1:c.358T>C, NM_001353189.2:c.331T>C, NM_001353189.1:c.331T>C, NM_001353181.2:c.358T>C, NM_001353181.1:c.358T>C, NM_001353191.2:c.298T>C, NM_001353191.1:c.298T>C, NM_001353175.2:c.298T>C, NM_001353175.1:c.298T>C, NM_001353176.2:c.298T>C, NM_001353176.1:c.298T>C, NM_001353188.2:c.298T>C, NM_001353188.1:c.298T>C, NM_001353184.2:c.358T>C, NM_001353184.1:c.358T>C, NM_001353178.2:c.298T>C, NM_001353178.1:c.298T>C, NM_001353177.2:c.358T>C, NM_001353177.1:c.358T>C, NM_001353180.2:c.331T>C, NM_001353180.1:c.331T>C, NM_001353190.2:c.298T>C, NM_001353190.1:c.298T>C, NM_001353182.2:c.298T>C, NM_001353182.1:c.298T>C, NM_001353173.2:c.298T>C, NM_001353173.1:c.298T>C, NM_001353183.2:c.298T>C, NM_001353183.1:c.298T>C, XM_047436706.1:c.298T>C, XM_047436702.1:c.331T>C, XM_047436705.1:c.331T>C, XM_047436707.1:c.298T>C, XM_047436699.1:c.358T>C, XM_047436703.1:c.331T>C, XM_047436700.1:c.358T>C, XM_047436704.1:c.331T>C, NP_803190.2:p.Ser100Pro, NP_077012.2:p.Ser100Pro, XP_011523503.1:p.Ser120Pro, NP_001070142.1:p.Ser120Pro, NP_001340118.1:p.Ser111Pro, NP_001340110.1:p.Ser120Pro, NP_001340120.1:p.Ser100Pro, NP_001340104.1:p.Ser100Pro, NP_001340105.1:p.Ser100Pro, NP_001340117.1:p.Ser100Pro, NP_001340113.1:p.Ser120Pro, NP_001340107.1:p.Ser100Pro, NP_001340106.1:p.Ser120Pro, NP_001340109.1:p.Ser111Pro, NP_001340119.1:p.Ser100Pro, NP_001340111.1:p.Ser100Pro, NP_001340102.1:p.Ser100Pro, NP_001340112.1:p.Ser100Pro, XP_047292662.1:p.Ser100Pro, XP_047292658.1:p.Ser111Pro, XP_047292661.1:p.Ser111Pro, XP_047292663.1:p.Ser100Pro, XP_047292655.1:p.Ser120Pro, XP_047292659.1:p.Ser111Pro, XP_047292656.1:p.Ser120Pro, XP_047292660.1:p.Ser111Pro

                    10.

                    rs1489954584 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:44189129 (GRCh38)
                      17:42266497 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:44189128:C:T
                      Gene:
                      TMUB2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.44189129C>T, NC_000017.10:g.42266497C>T, NM_177441.4:c.83C>T, NM_177441.3:c.83C>T, NM_177441.2:c.83C>T, NM_024107.4:c.83C>T, NM_024107.3:c.83C>T, NM_024107.2:c.83C>T, XM_011525211.4:c.143C>T, XM_011525211.3:c.413C>T, XM_011525211.2:c.413C>T, XM_011525211.1:c.413C>T, XM_011525200.4:c.143C>T, XM_011525200.3:c.413C>T, XM_011525200.2:c.413C>T, XM_011525200.1:c.413C>T, XM_011525201.3:c.143C>T, XM_011525201.2:c.143C>T, XM_011525201.1:c.143C>T, NM_001076674.3:c.143C>T, NM_001076674.2:c.143C>T, NM_001076674.1:c.143C>T, NM_001353189.2:c.116C>T, NM_001353189.1:c.116C>T, NM_001353181.2:c.143C>T, NM_001353181.1:c.143C>T, NM_001353187.2:c.116C>T, NM_001353187.1:c.116C>T, NM_001353191.2:c.83C>T, NM_001353191.1:c.83C>T, NM_001353175.2:c.83C>T, NM_001353175.1:c.83C>T, NM_001353176.2:c.83C>T, NM_001353176.1:c.83C>T, NR_148390.2:n.736C>T, NR_148390.1:n.743C>T, NM_001353188.2:c.83C>T, NM_001353188.1:c.83C>T, NM_001353184.2:c.143C>T, NM_001353184.1:c.143C>T, NM_001353178.2:c.83C>T, NM_001353178.1:c.83C>T, NM_001330235.2:c.83C>T, NM_001330235.1:c.83C>T, NM_001353177.2:c.143C>T, NM_001353177.1:c.143C>T, NM_001353180.2:c.116C>T, NM_001353180.1:c.116C>T, NM_001353190.2:c.83C>T, NM_001353190.1:c.83C>T, NM_001353182.2:c.83C>T, NM_001353182.1:c.83C>T, NR_148387.2:n.417C>T, NR_148387.1:n.438C>T, XM_024450930.2:c.116C>T, XM_024450930.1:c.116C>T, NR_148389.2:n.504C>T, NR_148389.1:n.525C>T, XM_024450929.2:c.143C>T, XM_024450929.1:c.143C>T, NM_001353173.2:c.83C>T, NM_001353173.1:c.83C>T, NM_001353185.2:c.116C>T, NM_001353185.1:c.116C>T, NR_148388.2:n.337C>T, NR_148388.1:n.344C>T, NM_001353183.2:c.83C>T, NM_001353183.1:c.83C>T, NM_001353186.2:c.143C>T, NM_001353186.1:c.143C>T, NM_001353174.2:c.83C>T, NM_001353174.1:c.83C>T, XM_024450933.2:c.83C>T, XM_024450933.1:c.83C>T, NR_148386.2:n.246C>T, NR_148386.1:n.267C>T, XM_047436706.1:c.83C>T, XM_047436702.1:c.116C>T, XM_047436705.1:c.116C>T, XM_047436707.1:c.83C>T, XM_047436699.1:c.143C>T, XM_047436708.1:c.143C>T, XM_047436703.1:c.116C>T, XM_047436710.1:c.83C>T, XM_047436701.1:c.143C>T, XM_047436711.1:c.116C>T, XM_047436709.1:c.83C>T, XM_047436700.1:c.143C>T, XM_047436704.1:c.116C>T, XM_047436712.1:c.116C>T, NP_803190.2:p.Ala28Val, NP_077012.2:p.Ala28Val, XP_011523513.2:p.Ala48Val, XP_011523502.2:p.Ala48Val, XP_011523503.1:p.Ala48Val, NP_001070142.1:p.Ala48Val, NP_001340118.1:p.Ala39Val, NP_001340110.1:p.Ala48Val, NP_001340116.1:p.Ala39Val, NP_001340120.1:p.Ala28Val, NP_001340104.1:p.Ala28Val, NP_001340105.1:p.Ala28Val, NP_001340117.1:p.Ala28Val, NP_001340113.1:p.Ala48Val, NP_001340107.1:p.Ala28Val, NP_001317164.1:p.Ala28Val, NP_001340106.1:p.Ala48Val, NP_001340109.1:p.Ala39Val, NP_001340119.1:p.Ala28Val, NP_001340111.1:p.Ala28Val, XP_024306698.1:p.Ala39Val, XP_024306697.1:p.Ala48Val, NP_001340102.1:p.Ala28Val, NP_001340114.1:p.Ala39Val, NP_001340112.1:p.Ala28Val, NP_001340115.1:p.Ala48Val, NP_001340103.1:p.Ala28Val, XP_024306701.1:p.Ala28Val, XP_047292662.1:p.Ala28Val, XP_047292658.1:p.Ala39Val, XP_047292661.1:p.Ala39Val, XP_047292663.1:p.Ala28Val, XP_047292655.1:p.Ala48Val, XP_047292664.1:p.Ala48Val, XP_047292659.1:p.Ala39Val, XP_047292666.1:p.Ala28Val, XP_047292657.1:p.Ala48Val, XP_047292667.1:p.Ala39Val, XP_047292665.1:p.Ala28Val, XP_047292656.1:p.Ala48Val, XP_047292660.1:p.Ala39Val, XP_047292668.1:p.Ala39Val

                      11.

                      rs1489554725 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AACTA>- [Show Flanks]
                        Chromosome:
                        17:44188960 (GRCh38)
                        17:42266328 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:44188958:AAACTA:A
                        Gene:
                        TMUB2 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1489482983 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          17:44186239 (GRCh38)
                          17:42263607 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:44186238:G:C
                          Gene:
                          TMUB2 (Varview), ASB16-AS1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000066/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000011/3 (TOPMED)
                          C=0.000223/1 (Estonian)
                          HGVS:

                          13.

                          rs1489074099 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:44186485 (GRCh38)
                            17:42263853 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:44186484:G:A
                            Gene:
                            TMUB2 (Varview), ASB16-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1489020271 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:44191035 (GRCh38)
                              17:42268403 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:44191034:G:A
                              Gene:
                              TMUB2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000021/3 (GnomAD)
                              A=0.00006/16 (TOPMED)
                              HGVS:
                              NC_000017.11:g.44191035G>A, NC_000017.10:g.42268403G>A, NM_177441.4:c.*171G>A, NM_177441.3:c.*171G>A, NM_177441.2:c.*171G>A, NM_024107.4:c.*171G>A, NM_024107.3:c.*171G>A, NM_024107.2:c.*171G>A, XM_011525211.4:c.*503G>A, XM_011525211.3:c.*503G>A, XM_011525211.2:c.*503G>A, XM_011525201.3:c.*171G>A, XM_011525201.2:c.*171G>A, XM_011525201.1:c.*171G>A, NM_001076674.3:c.*171G>A, NM_001076674.2:c.*171G>A, NM_001076674.1:c.*171G>A, NM_001353189.2:c.*171G>A, NM_001353189.1:c.*171G>A, NM_001353181.2:c.*171G>A, NM_001353181.1:c.*171G>A, NM_001353187.2:c.*171G>A, NM_001353187.1:c.*171G>A, NM_001353191.2:c.*171G>A, NM_001353191.1:c.*171G>A, NM_001353176.2:c.*171G>A, NM_001353176.1:c.*171G>A, NR_148390.2:n.1441G>A, NR_148390.1:n.1448G>A, NM_001353188.2:c.*171G>A, NM_001353188.1:c.*171G>A, NM_001353178.2:c.*171G>A, NM_001353178.1:c.*171G>A, NM_001330235.2:c.*171G>A, NM_001330235.1:c.*171G>A, NM_001353177.2:c.*171G>A, NM_001353177.1:c.*171G>A, NM_001353180.2:c.*171G>A, NM_001353180.1:c.*171G>A, NM_001353190.2:c.*171G>A, NM_001353190.1:c.*171G>A, NM_001353182.2:c.*171G>A, NM_001353182.1:c.*171G>A, NR_148387.2:n.1287G>A, NR_148387.1:n.1308G>A, XM_024450930.2:c.*171G>A, XM_024450930.1:c.*171G>A, NR_148389.2:n.1209G>A, NR_148389.1:n.1230G>A, XM_024450929.2:c.*171G>A, XM_024450929.1:c.*171G>A, NR_148388.2:n.1042G>A, NR_148388.1:n.1049G>A, NM_001353186.2:c.*503G>A, NM_001353186.1:c.*503G>A, NR_148386.2:n.951G>A, NR_148386.1:n.972G>A, XM_047436706.1:c.*171G>A, XM_047436702.1:c.*171G>A, XM_047436705.1:c.*171G>A, XM_047436699.1:c.*171G>A, XM_047436708.1:c.*171G>A, XM_047436701.1:c.*171G>A, XM_047436711.1:c.*503G>A, XM_047436709.1:c.*171G>A, XM_047436712.1:c.*503G>A

                              15.

                              rs1488363109 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                17:44191748 (GRCh38)
                                17:42269116 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:44191747:G:C
                                Gene:
                                ATXN7L3 (Varview), TMUB2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000106/2 (TOMMO)
                                C=0.000684/2 (KOREAN)
                                HGVS:
                                NC_000017.11:g.44191748G>C, NC_000017.10:g.42269116G>C, NM_177441.4:c.*884G>C, NM_177441.3:c.*884G>C, NM_024107.4:c.*884G>C, NM_024107.3:c.*884G>C, XM_011525211.4:c.*1216G>C, XM_011525200.4:c.*665G>C, XM_011525201.3:c.*884G>C, NM_001076674.3:c.*884G>C, NM_001076674.2:c.*884G>C, NM_001353189.2:c.*884G>C, NM_001353189.1:c.*884G>C, NM_001353181.2:c.*884G>C, NM_001353181.1:c.*884G>C, NM_001353187.2:c.*884G>C, NM_001353187.1:c.*884G>C, NM_001353191.2:c.*884G>C, NM_001353191.1:c.*884G>C, NM_001353175.2:c.*665G>C, NM_001353175.1:c.*665G>C, NM_001353176.2:c.*884G>C, NM_001353176.1:c.*884G>C, NR_148390.2:n.2154G>C, NR_148390.1:n.2161G>C, NM_001353188.2:c.*884G>C, NM_001353188.1:c.*884G>C, NM_001353184.2:c.*665G>C, NM_001353184.1:c.*665G>C, NM_001353178.2:c.*884G>C, NM_001353178.1:c.*884G>C, NM_001330235.2:c.*884G>C, NM_001330235.1:c.*884G>C, NM_001353177.2:c.*884G>C, NM_001353177.1:c.*884G>C, NM_001353180.2:c.*884G>C, NM_001353180.1:c.*884G>C, NM_001353190.2:c.*884G>C, NM_001353190.1:c.*884G>C, NM_001353182.2:c.*884G>C, NM_001353182.1:c.*884G>C, NR_148387.2:n.2000G>C, NR_148387.1:n.2021G>C, XM_024450930.2:c.*884G>C, NR_148389.2:n.1922G>C, NR_148389.1:n.1943G>C, XM_024450929.2:c.*884G>C, NM_001353173.2:c.*665G>C, NM_001353173.1:c.*665G>C, NM_001353185.2:c.*665G>C, NM_001353185.1:c.*665G>C, NR_148388.2:n.1755G>C, NR_148388.1:n.1762G>C, NM_001353183.2:c.*665G>C, NM_001353183.1:c.*665G>C, NM_001353186.2:c.*1216G>C, NM_001353186.1:c.*1216G>C, NM_001353174.2:c.*665G>C, NM_001353174.1:c.*665G>C, XM_024450933.2:c.*665G>C, NR_148386.2:n.1664G>C, NR_148386.1:n.1685G>C, XM_047436706.1:c.*884G>C, XM_047436702.1:c.*884G>C, XM_047436705.1:c.*884G>C, XM_047436707.1:c.*665G>C, XM_047436699.1:c.*884G>C, XM_047436708.1:c.*884G>C, XM_047436703.1:c.*665G>C, XM_047436710.1:c.*665G>C, XM_047436701.1:c.*884G>C, XM_047436711.1:c.*1216G>C, XM_047436709.1:c.*884G>C, XM_047436700.1:c.*665G>C, XM_047436704.1:c.*665G>C, XM_047436712.1:c.*1216G>C

                                16.

                                rs1487205545 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:44190718 (GRCh38)
                                  17:42268086 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:44190717:A:G
                                  Gene:
                                  TMUB2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.44190718A>G, NC_000017.10:g.42268086A>G, NM_177441.4:c.760A>G, NM_177441.3:c.760A>G, NM_177441.2:c.760A>G, NM_024107.4:c.760A>G, NM_024107.3:c.760A>G, NM_024107.2:c.760A>G, XM_011525211.4:c.*186A>G, XM_011525211.3:c.*186A>G, XM_011525211.2:c.*186A>G, XM_011525200.4:c.709A>G, XM_011525200.3:c.979A>G, XM_011525200.2:c.979A>G, XM_011525200.1:c.979A>G, XM_011525201.3:c.820A>G, XM_011525201.2:c.820A>G, XM_011525201.1:c.820A>G, NM_001076674.3:c.820A>G, NM_001076674.2:c.820A>G, NM_001076674.1:c.820A>G, NM_001353189.2:c.793A>G, NM_001353189.1:c.793A>G, NM_001353181.2:c.820A>G, NM_001353181.1:c.820A>G, NM_001353187.2:c.682A>G, NM_001353187.1:c.682A>G, NM_001353191.2:c.760A>G, NM_001353191.1:c.760A>G, NM_001353175.2:c.760A>G, NM_001353175.1:c.760A>G, NM_001353176.2:c.760A>G, NM_001353176.1:c.760A>G, NR_148390.2:n.1124A>G, NR_148390.1:n.1131A>G, NM_001353188.2:c.760A>G, NM_001353188.1:c.760A>G, NM_001353184.2:c.820A>G, NM_001353184.1:c.820A>G, NM_001353178.2:c.760A>G, NM_001353178.1:c.760A>G, NM_001330235.2:c.649A>G, NM_001330235.1:c.649A>G, NM_001353177.2:c.820A>G, NM_001353177.1:c.820A>G, NM_001353180.2:c.793A>G, NM_001353180.1:c.793A>G, NM_001353190.2:c.760A>G, NM_001353190.1:c.760A>G, NM_001353182.2:c.760A>G, NM_001353182.1:c.760A>G, NR_148387.2:n.970A>G, NR_148387.1:n.991A>G, XM_024450930.2:c.682A>G, XM_024450930.1:c.682A>G, NR_148389.2:n.892A>G, NR_148389.1:n.913A>G, XM_024450929.2:c.709A>G, XM_024450929.1:c.709A>G, NM_001353173.2:c.760A>G, NM_001353173.1:c.760A>G, NM_001353185.2:c.682A>G, NM_001353185.1:c.682A>G, NR_148388.2:n.725A>G, NR_148388.1:n.732A>G, NM_001353183.2:c.760A>G, NM_001353183.1:c.760A>G, NM_001353186.2:c.*186A>G, NM_001353186.1:c.*186A>G, NM_001353174.2:c.649A>G, NM_001353174.1:c.649A>G, XM_024450933.2:c.649A>G, XM_024450933.1:c.649A>G, NR_148386.2:n.634A>G, NR_148386.1:n.655A>G, XM_047436706.1:c.760A>G, XM_047436702.1:c.793A>G, XM_047436705.1:c.793A>G, XM_047436707.1:c.760A>G, XM_047436699.1:c.820A>G, XM_047436708.1:c.709A>G, XM_047436703.1:c.793A>G, XM_047436710.1:c.649A>G, XM_047436701.1:c.709A>G, XM_047436711.1:c.*186A>G, XM_047436709.1:c.649A>G, XM_047436700.1:c.820A>G, XM_047436704.1:c.793A>G, XM_047436712.1:c.*186A>G, NP_803190.2:p.Met254Val, NP_077012.2:p.Met254Val, XP_011523502.2:p.Met237Val, XP_011523503.1:p.Met274Val, NP_001070142.1:p.Met274Val, NP_001340118.1:p.Met265Val, NP_001340110.1:p.Met274Val, NP_001340116.1:p.Met228Val, NP_001340120.1:p.Met254Val, NP_001340104.1:p.Met254Val, NP_001340105.1:p.Met254Val, NP_001340117.1:p.Met254Val, NP_001340113.1:p.Met274Val, NP_001340107.1:p.Met254Val, NP_001317164.1:p.Met217Val, NP_001340106.1:p.Met274Val, NP_001340109.1:p.Met265Val, NP_001340119.1:p.Met254Val, NP_001340111.1:p.Met254Val, XP_024306698.1:p.Met228Val, XP_024306697.1:p.Met237Val, NP_001340102.1:p.Met254Val, NP_001340114.1:p.Met228Val, NP_001340112.1:p.Met254Val, NP_001340103.1:p.Met217Val, XP_024306701.1:p.Met217Val, XP_047292662.1:p.Met254Val, XP_047292658.1:p.Met265Val, XP_047292661.1:p.Met265Val, XP_047292663.1:p.Met254Val, XP_047292655.1:p.Met274Val, XP_047292664.1:p.Met237Val, XP_047292659.1:p.Met265Val, XP_047292666.1:p.Met217Val, XP_047292657.1:p.Met237Val, XP_047292665.1:p.Met217Val, XP_047292656.1:p.Met274Val, XP_047292660.1:p.Met265Val

                                  17.

                                  rs1486838966 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    17:44192343 (GRCh38)
                                    17:42269711 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:44192342:A:T
                                    Gene:
                                    ATXN7L3 (Varview), TMUB2 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1486631507 has merged into rs34097625 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      17:44190360 (GRCh38)
                                      17:42267728 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44190349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      TMUB2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.44190360_44190371del, NC_000017.11:g.44190361_44190371del, NC_000017.11:g.44190363_44190371del, NC_000017.11:g.44190364_44190371del, NC_000017.11:g.44190365_44190371del, NC_000017.11:g.44190366_44190371del, NC_000017.11:g.44190367_44190371del, NC_000017.11:g.44190368_44190371del, NC_000017.11:g.44190369_44190371del, NC_000017.11:g.44190370_44190371del, NC_000017.11:g.44190371del, NC_000017.11:g.44190371dup, NC_000017.11:g.44190370_44190371dup, NC_000017.11:g.44190369_44190371dup, NC_000017.11:g.44190368_44190371dup, NC_000017.11:g.44190367_44190371dup, NC_000017.11:g.44190366_44190371dup, NC_000017.11:g.44190365_44190371dup, NC_000017.10:g.42267728_42267739del, NC_000017.10:g.42267729_42267739del, NC_000017.10:g.42267731_42267739del, NC_000017.10:g.42267732_42267739del, NC_000017.10:g.42267733_42267739del, NC_000017.10:g.42267734_42267739del, NC_000017.10:g.42267735_42267739del, NC_000017.10:g.42267736_42267739del, NC_000017.10:g.42267737_42267739del, NC_000017.10:g.42267738_42267739del, NC_000017.10:g.42267739del, NC_000017.10:g.42267739dup, NC_000017.10:g.42267738_42267739dup, NC_000017.10:g.42267737_42267739dup, NC_000017.10:g.42267736_42267739dup, NC_000017.10:g.42267735_42267739dup, NC_000017.10:g.42267734_42267739dup, NC_000017.10:g.42267733_42267739dup

                                      19.

                                      rs1485532914 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:44187037 (GRCh38)
                                        17:42264405 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:44187036:T:C
                                        Gene:
                                        TMUB2 (Varview), ASB16-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.44187037T>C, NC_000017.10:g.42264405T>C, NM_024107.4:c.-98T>C, NM_024107.3:c.-98T>C, NM_024107.2:c.-98T>C, NM_001076674.3:c.-106T>C, NM_001076674.2:c.-106T>C, NM_001076674.1:c.-106T>C, NM_001353191.2:c.-415T>C, NM_001353191.1:c.-415T>C, NM_001353176.2:c.-356T>C, NM_001353176.1:c.-356T>C, NM_001353188.2:c.-288T>C, NM_001353188.1:c.-288T>C, NM_001353178.2:c.-253T>C, NM_001353178.1:c.-253T>C, NM_001330235.2:c.-356T>C, NM_001330235.1:c.-356T>C, NM_001353177.2:c.-165T>C, NM_001353177.1:c.-165T>C, NM_001353180.2:c.-168T>C, NM_001353180.1:c.-168T>C, NR_148387.2:n.66T>C, NR_148387.1:n.87T>C, XM_024450930.2:c.-168T>C, XM_024450930.1:c.-168T>C, NR_148389.2:n.66T>C, NR_148389.1:n.87T>C, XM_024450929.2:c.-106T>C, XM_024450929.1:c.-106T>C, NM_001353185.2:c.-236T>C, NM_001353185.1:c.-236T>C, NM_001353183.2:c.-98T>C, NM_001353183.1:c.-98T>C, NM_001353186.2:c.-106T>C, NM_001353186.1:c.-106T>C, NR_148386.2:n.66T>C, NR_148386.1:n.87T>C, XM_047436704.1:c.-168T>C, XM_047436712.1:c.-168T>C

                                        20.

                                        rs1484973621 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:44187978 (GRCh38)
                                          17:42265346 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:44187977:G:A
                                          Gene:
                                          TMUB2 (Varview), ASB16-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:
                                          NC_000017.11:g.44187978G>A, NC_000017.10:g.42265346G>A, NM_001353189.2:c.-24G>A, NM_001353189.1:c.-24G>A, NM_001353187.2:c.-24G>A, NM_001353187.1:c.-24G>A, NM_001353191.2:c.-144G>A, NM_001353191.1:c.-144G>A, NM_001353176.2:c.-144G>A, NM_001353176.1:c.-144G>A, NM_001353188.2:c.-144G>A, NM_001353188.1:c.-144G>A, NM_001330235.2:c.-144G>A, NM_001330235.1:c.-144G>A, NM_001353180.2:c.-24G>A, NM_001353180.1:c.-24G>A, NR_148387.2:n.278G>A, NR_148387.1:n.299G>A, XM_024450930.2:c.-24G>A, XM_024450930.1:c.-24G>A, NR_148389.2:n.278G>A, NR_148389.1:n.299G>A, NM_001353185.2:c.-24G>A, NM_001353185.1:c.-24G>A, XM_047436706.1:c.-144G>A, XM_047436702.1:c.-24G>A, XM_047436705.1:c.-24G>A, XM_047436707.1:c.-144G>A, XM_047436703.1:c.-24G>A, XM_047436710.1:c.-144G>A, XM_047436711.1:c.-24G>A, XM_047436704.1:c.-24G>A, XM_047436712.1:c.-24G>A

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