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 Protein

Items: 1 to 20 of 294

1.

rs1486487546 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    10:70779683 (GRCh38)
    10:72539439 (GRCh37)
    Canonical SPDI:
    NC_000010.11:70779682:T:A,NC_000010.11:70779682:T:C
    Gene:
    TBATA (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000028/1 (ALFA)
    C=0.000021/3 (GnomAD)
    C=0.000035/1 (TOMMO)
    HGVS:
    NC_000010.11:g.70779683T>A, NC_000010.11:g.70779683T>C, NC_000010.10:g.72539439T>A, NC_000010.10:g.72539439T>C, NM_152710.4:c.337A>T, NM_152710.4:c.337A>G, NM_152710.3:c.337A>T, NM_152710.3:c.337A>G, NM_152710.2:c.337A>T, NM_152710.2:c.337A>G, XM_017015859.3:c.337A>T, XM_017015859.3:c.337A>G, XM_017015859.2:c.337A>T, XM_017015859.2:c.337A>G, XM_017015859.1:c.337A>T, XM_017015859.1:c.337A>G, XM_017015861.3:c.337A>T, XM_017015861.3:c.337A>G, XM_017015861.2:c.337A>T, XM_017015861.2:c.337A>G, XM_017015861.1:c.337A>T, XM_017015861.1:c.337A>G, XM_017015845.2:c.337A>T, XM_017015845.2:c.337A>G, XM_017015845.1:c.337A>T, XM_017015845.1:c.337A>G, XM_017015846.2:c.337A>T, XM_017015846.2:c.337A>G, XM_017015846.1:c.337A>T, XM_017015846.1:c.337A>G, XM_017015847.2:c.337A>T, XM_017015847.2:c.337A>G, XM_017015847.1:c.337A>T, XM_017015847.1:c.337A>G, XM_017015856.2:c.337A>T, XM_017015856.2:c.337A>G, XM_017015856.1:c.337A>T, XM_017015856.1:c.337A>G, XM_017015849.2:c.337A>T, XM_017015849.2:c.337A>G, XM_017015849.1:c.337A>T, XM_017015849.1:c.337A>G, XM_017015848.2:c.337A>T, XM_017015848.2:c.337A>G, XM_017015848.1:c.337A>T, XM_017015848.1:c.337A>G, XM_017015858.2:c.337A>T, XM_017015858.2:c.337A>G, XM_017015858.1:c.337A>T, XM_017015858.1:c.337A>G, XM_017015853.2:c.337A>T, XM_017015853.2:c.337A>G, XM_017015853.1:c.337A>T, XM_017015853.1:c.337A>G, XM_017015850.2:c.337A>T, XM_017015850.2:c.337A>G, XM_017015850.1:c.337A>T, XM_017015850.1:c.337A>G, XM_017015851.2:c.337A>T, XM_017015851.2:c.337A>G, XM_017015851.1:c.337A>T, XM_017015851.1:c.337A>G, NM_001318242.2:c.337A>T, NM_001318242.2:c.337A>G, NM_001318242.1:c.337A>T, NM_001318242.1:c.337A>G, XM_017015854.2:c.337A>T, XM_017015854.2:c.337A>G, XM_017015854.1:c.337A>T, XM_017015854.1:c.337A>G, XM_017015852.2:c.337A>T, XM_017015852.2:c.337A>G, XM_017015852.1:c.337A>T, XM_017015852.1:c.337A>G, XM_017015855.2:c.337A>T, XM_017015855.2:c.337A>G, XM_017015855.1:c.337A>T, XM_017015855.1:c.337A>G, NM_001318241.2:c.337A>T, NM_001318241.2:c.337A>G, NM_001318241.1:c.337A>T, NM_001318241.1:c.337A>G, NM_001318243.2:c.337A>T, NM_001318243.2:c.337A>G, NM_001318243.1:c.337A>T, NM_001318243.1:c.337A>G, XM_017015857.2:c.337A>T, XM_017015857.2:c.337A>G, XM_017015857.1:c.337A>T, XM_017015857.1:c.337A>G, NR_134531.2:n.703A>T, NR_134531.2:n.703A>G, NR_134531.1:n.745A>T, NR_134531.1:n.745A>G, XM_017015860.2:c.337A>T, XM_017015860.2:c.337A>G, XM_017015860.1:c.337A>T, XM_017015860.1:c.337A>G, NR_134532.2:n.310A>T, NR_134532.2:n.310A>G, NR_134532.1:n.517A>T, NR_134532.1:n.517A>G, XR_001747058.2:n.703A>T, XR_001747058.2:n.703A>G, XR_001747058.1:n.727A>T, XR_001747058.1:n.727A>G, XM_017015862.2:c.337A>T, XM_017015862.2:c.337A>G, XM_017015862.1:c.337A>T, XM_017015862.1:c.337A>G, XM_047424720.1:c.337A>T, XM_047424720.1:c.337A>G, XM_047424721.1:c.337A>T, XM_047424721.1:c.337A>G, NR_165441.1:n.703A>T, NR_165441.1:n.703A>G, XM_047424722.1:c.337A>T, XM_047424722.1:c.337A>G, NP_689923.3:p.Thr113Ser, NP_689923.3:p.Thr113Ala, XP_016871348.1:p.Thr113Ser, XP_016871348.1:p.Thr113Ala, XP_016871350.1:p.Thr113Ser, XP_016871350.1:p.Thr113Ala, XP_016871334.1:p.Thr113Ser, XP_016871334.1:p.Thr113Ala, XP_016871335.1:p.Thr113Ser, XP_016871335.1:p.Thr113Ala, XP_016871336.1:p.Thr113Ser, XP_016871336.1:p.Thr113Ala, XP_016871345.1:p.Thr113Ser, XP_016871345.1:p.Thr113Ala, XP_016871338.1:p.Thr113Ser, XP_016871338.1:p.Thr113Ala, XP_016871337.1:p.Thr113Ser, XP_016871337.1:p.Thr113Ala, XP_016871347.1:p.Thr113Ser, XP_016871347.1:p.Thr113Ala, XP_016871342.1:p.Thr113Ser, XP_016871342.1:p.Thr113Ala, XP_016871339.1:p.Thr113Ser, XP_016871339.1:p.Thr113Ala, XP_016871340.1:p.Thr113Ser, XP_016871340.1:p.Thr113Ala, NP_001305171.1:p.Thr113Ser, NP_001305171.1:p.Thr113Ala, XP_016871343.1:p.Thr113Ser, XP_016871343.1:p.Thr113Ala, XP_016871341.1:p.Thr113Ser, XP_016871341.1:p.Thr113Ala, XP_016871344.1:p.Thr113Ser, XP_016871344.1:p.Thr113Ala, NP_001305170.1:p.Thr113Ser, NP_001305170.1:p.Thr113Ala, NP_001305172.1:p.Thr113Ser, NP_001305172.1:p.Thr113Ala, XP_016871346.1:p.Thr113Ser, XP_016871346.1:p.Thr113Ala, XP_016871349.1:p.Thr113Ser, XP_016871349.1:p.Thr113Ala, XP_016871351.1:p.Thr113Ser, XP_016871351.1:p.Thr113Ala, XP_047280676.1:p.Thr113Ser, XP_047280676.1:p.Thr113Ala, XP_047280677.1:p.Thr113Ser, XP_047280677.1:p.Thr113Ala, XP_047280678.1:p.Thr113Ser, XP_047280678.1:p.Thr113Ala

    2.

    rs1484606991 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      10:70782006 (GRCh38)
      10:72541762 (GRCh37)
      Canonical SPDI:
      NC_000010.11:70782005:C:A
      Gene:
      TBATA (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000010.11:g.70782006C>A, NC_000010.10:g.72541762C>A, NM_152710.4:c.72G>T, NM_152710.3:c.72G>T, NM_152710.2:c.72G>T, XM_017015859.3:c.72G>T, XM_017015859.2:c.72G>T, XM_017015859.1:c.72G>T, XM_017015861.3:c.72G>T, XM_017015861.2:c.72G>T, XM_017015861.1:c.72G>T, XM_017015845.2:c.72G>T, XM_017015845.1:c.72G>T, XM_017015846.2:c.72G>T, XM_017015846.1:c.72G>T, XM_017015847.2:c.72G>T, XM_017015847.1:c.72G>T, XM_017015856.2:c.72G>T, XM_017015856.1:c.72G>T, XM_017015849.2:c.72G>T, XM_017015849.1:c.72G>T, XM_017015848.2:c.72G>T, XM_017015848.1:c.72G>T, XM_017015858.2:c.72G>T, XM_017015858.1:c.72G>T, XM_017015853.2:c.72G>T, XM_017015853.1:c.72G>T, XM_017015850.2:c.72G>T, XM_017015850.1:c.72G>T, XM_017015851.2:c.72G>T, XM_017015851.1:c.72G>T, NM_001318242.2:c.72G>T, NM_001318242.1:c.72G>T, XM_017015854.2:c.72G>T, XM_017015854.1:c.72G>T, XM_017015852.2:c.72G>T, XM_017015852.1:c.72G>T, XM_017015855.2:c.72G>T, XM_017015855.1:c.72G>T, NM_001318241.2:c.72G>T, NM_001318241.1:c.72G>T, NM_001318243.2:c.72G>T, NM_001318243.1:c.72G>T, XM_017015857.2:c.72G>T, XM_017015857.1:c.72G>T, NR_134531.2:n.438G>T, NR_134531.1:n.480G>T, XM_017015860.2:c.72G>T, XM_017015860.1:c.72G>T, NR_134532.2:n.45G>T, NR_134532.1:n.252G>T, XR_001747058.2:n.438G>T, XR_001747058.1:n.462G>T, XM_017015862.2:c.72G>T, XM_017015862.1:c.72G>T, NR_134533.2:n.45G>T, NR_134533.1:n.252G>T, NR_134534.2:n.45G>T, NR_134534.1:n.252G>T, XM_047424720.1:c.72G>T, XM_047424721.1:c.72G>T, NR_165441.1:n.438G>T, XM_047424722.1:c.72G>T, NP_689923.3:p.Lys24Asn, XP_016871348.1:p.Lys24Asn, XP_016871350.1:p.Lys24Asn, XP_016871334.1:p.Lys24Asn, XP_016871335.1:p.Lys24Asn, XP_016871336.1:p.Lys24Asn, XP_016871345.1:p.Lys24Asn, XP_016871338.1:p.Lys24Asn, XP_016871337.1:p.Lys24Asn, XP_016871347.1:p.Lys24Asn, XP_016871342.1:p.Lys24Asn, XP_016871339.1:p.Lys24Asn, XP_016871340.1:p.Lys24Asn, NP_001305171.1:p.Lys24Asn, XP_016871343.1:p.Lys24Asn, XP_016871341.1:p.Lys24Asn, XP_016871344.1:p.Lys24Asn, NP_001305170.1:p.Lys24Asn, NP_001305172.1:p.Lys24Asn, XP_016871346.1:p.Lys24Asn, XP_016871349.1:p.Lys24Asn, XP_016871351.1:p.Lys24Asn, XP_047280676.1:p.Lys24Asn, XP_047280677.1:p.Lys24Asn, XP_047280678.1:p.Lys24Asn

      3.

      rs1481702486 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:70777197 (GRCh38)
        10:72536953 (GRCh37)
        Canonical SPDI:
        NC_000010.11:70777196:G:A
        Gene:
        TBATA (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.70777197G>A, NC_000010.10:g.72536953G>A, NM_152710.4:c.646C>T, NM_152710.3:c.646C>T, NM_152710.2:c.646C>T, XM_017015859.3:c.742C>T, XM_017015859.2:c.742C>T, XM_017015859.1:c.742C>T, XM_017015861.3:c.742C>T, XM_017015861.2:c.742C>T, XM_017015861.1:c.742C>T, XM_017015845.2:c.742C>T, XM_017015845.1:c.742C>T, XM_017015846.2:c.742C>T, XM_017015846.1:c.742C>T, XM_017015847.2:c.742C>T, XM_017015847.1:c.742C>T, XM_017015856.2:c.742C>T, XM_017015856.1:c.742C>T, XM_017015849.2:c.742C>T, XM_017015849.1:c.742C>T, XM_017015848.2:c.742C>T, XM_017015848.1:c.742C>T, XM_017015858.2:c.742C>T, XM_017015858.1:c.742C>T, XM_017015853.2:c.742C>T, XM_017015853.1:c.742C>T, XM_017015850.2:c.742C>T, XM_017015850.1:c.742C>T, XM_017015851.2:c.739C>T, XM_017015851.1:c.739C>T, NM_001318242.2:c.646C>T, NM_001318242.1:c.646C>T, XM_017015854.2:c.742C>T, XM_017015854.1:c.742C>T, XM_017015852.2:c.742C>T, XM_017015852.1:c.742C>T, XM_017015855.2:c.742C>T, XM_017015855.1:c.742C>T, NM_001318241.2:c.649C>T, NM_001318241.1:c.649C>T, NM_001318243.2:c.643C>T, NM_001318243.1:c.643C>T, XM_017015857.2:c.742C>T, XM_017015857.1:c.742C>T, NR_134531.2:n.1012C>T, NR_134531.1:n.1054C>T, XM_017015860.2:c.742C>T, XM_017015860.1:c.742C>T, NR_134532.2:n.712C>T, NR_134532.1:n.919C>T, XR_001747058.2:n.1206C>T, XM_017015862.2:c.704C>T, XM_017015862.1:c.704C>T, NR_134533.2:n.389C>T, NR_134533.1:n.596C>T, NR_134534.2:n.389C>T, NR_134534.1:n.596C>T, XM_047424720.1:c.742C>T, XM_047424721.1:c.742C>T, NR_165441.1:n.1009C>T, XM_047424722.1:c.646C>T, NP_689923.3:p.His216Tyr, XP_016871348.1:p.His248Tyr, XP_016871350.1:p.His248Tyr, XP_016871334.1:p.His248Tyr, XP_016871335.1:p.His248Tyr, XP_016871336.1:p.His248Tyr, XP_016871345.1:p.His248Tyr, XP_016871338.1:p.His248Tyr, XP_016871337.1:p.His248Tyr, XP_016871347.1:p.His248Tyr, XP_016871342.1:p.His248Tyr, XP_016871339.1:p.His248Tyr, XP_016871340.1:p.His247Tyr, NP_001305171.1:p.His216Tyr, XP_016871343.1:p.His248Tyr, XP_016871341.1:p.His248Tyr, XP_016871344.1:p.His248Tyr, NP_001305170.1:p.His217Tyr, NP_001305172.1:p.His215Tyr, XP_016871346.1:p.His248Tyr, XP_016871349.1:p.His248Tyr, XP_016871351.1:p.Thr235Ile, XP_047280676.1:p.His248Tyr, XP_047280677.1:p.His248Tyr, XP_047280678.1:p.His216Tyr

        4.

        rs1480068774 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:70777227 (GRCh38)
          10:72536983 (GRCh37)
          Canonical SPDI:
          NC_000010.11:70777226:G:A
          Gene:
          TBATA (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,stop_gained,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000010.11:g.70777227G>A, NC_000010.10:g.72536983G>A, NM_152710.4:c.616C>T, NM_152710.3:c.616C>T, NM_152710.2:c.616C>T, XM_017015859.3:c.712C>T, XM_017015859.2:c.712C>T, XM_017015859.1:c.712C>T, XM_017015861.3:c.712C>T, XM_017015861.2:c.712C>T, XM_017015861.1:c.712C>T, XM_017015845.2:c.712C>T, XM_017015845.1:c.712C>T, XM_017015846.2:c.712C>T, XM_017015846.1:c.712C>T, XM_017015847.2:c.712C>T, XM_017015847.1:c.712C>T, XM_017015856.2:c.712C>T, XM_017015856.1:c.712C>T, XM_017015849.2:c.712C>T, XM_017015849.1:c.712C>T, XM_017015848.2:c.712C>T, XM_017015848.1:c.712C>T, XM_017015858.2:c.712C>T, XM_017015858.1:c.712C>T, XM_017015853.2:c.712C>T, XM_017015853.1:c.712C>T, XM_017015850.2:c.712C>T, XM_017015850.1:c.712C>T, XM_017015851.2:c.709C>T, XM_017015851.1:c.709C>T, NM_001318242.2:c.616C>T, NM_001318242.1:c.616C>T, XM_017015854.2:c.712C>T, XM_017015854.1:c.712C>T, XM_017015852.2:c.712C>T, XM_017015852.1:c.712C>T, XM_017015855.2:c.712C>T, XM_017015855.1:c.712C>T, NM_001318241.2:c.619C>T, NM_001318241.1:c.619C>T, NM_001318243.2:c.613C>T, NM_001318243.1:c.613C>T, XM_017015857.2:c.712C>T, XM_017015857.1:c.712C>T, NR_134531.2:n.982C>T, NR_134531.1:n.1024C>T, XM_017015860.2:c.712C>T, XM_017015860.1:c.712C>T, NR_134532.2:n.682C>T, NR_134532.1:n.889C>T, XR_001747058.2:n.1176C>T, XM_017015862.2:c.674C>T, XM_017015862.1:c.674C>T, NR_134533.2:n.359C>T, NR_134533.1:n.566C>T, NR_134534.2:n.359C>T, NR_134534.1:n.566C>T, XM_047424720.1:c.712C>T, XM_047424721.1:c.712C>T, NR_165441.1:n.979C>T, XM_047424722.1:c.616C>T, NP_689923.3:p.Gln206Ter, XP_016871348.1:p.Gln238Ter, XP_016871350.1:p.Gln238Ter, XP_016871334.1:p.Gln238Ter, XP_016871335.1:p.Gln238Ter, XP_016871336.1:p.Gln238Ter, XP_016871345.1:p.Gln238Ter, XP_016871338.1:p.Gln238Ter, XP_016871337.1:p.Gln238Ter, XP_016871347.1:p.Gln238Ter, XP_016871342.1:p.Gln238Ter, XP_016871339.1:p.Gln238Ter, XP_016871340.1:p.Gln237Ter, NP_001305171.1:p.Gln206Ter, XP_016871343.1:p.Gln238Ter, XP_016871341.1:p.Gln238Ter, XP_016871344.1:p.Gln238Ter, NP_001305170.1:p.Gln207Ter, NP_001305172.1:p.Gln205Ter, XP_016871346.1:p.Gln238Ter, XP_016871349.1:p.Gln238Ter, XP_016871351.1:p.Pro225Leu, XP_047280676.1:p.Gln238Ter, XP_047280677.1:p.Gln238Ter, XP_047280678.1:p.Gln206Ter

          5.

          rs1478675226 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            10:70774337 (GRCh38)
            10:72534093 (GRCh37)
            Canonical SPDI:
            NC_000010.11:70774336:G:T
            Gene:
            TBATA (Varview)
            Functional Consequence:
            intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.70774337G>T, NC_000010.10:g.72534093G>T, NM_152710.4:c.793C>A, NM_152710.3:c.793C>A, NM_152710.2:c.793C>A, XM_017015859.3:c.950C>A, XM_017015859.2:c.950C>A, XM_017015859.1:c.950C>A, XM_017015861.3:c.807C>A, XM_017015861.2:c.807C>A, XM_017015861.1:c.807C>A, XM_017015845.2:c.889C>A, XM_017015845.1:c.889C>A, XM_017015846.2:c.889C>A, XM_017015846.1:c.889C>A, XM_017015847.2:c.889C>A, XM_017015847.1:c.889C>A, XM_017015856.2:c.889C>A, XM_017015856.1:c.889C>A, XM_017015849.2:c.889C>A, XM_017015849.1:c.889C>A, XM_017015848.2:c.889C>A, XM_017015848.1:c.889C>A, XM_017015858.2:c.950C>A, XM_017015858.1:c.950C>A, XM_017015853.2:c.889C>A, XM_017015853.1:c.889C>A, NM_001318242.2:c.793C>A, NM_001318242.1:c.793C>A, XM_017015854.2:c.889C>A, XM_017015854.1:c.889C>A, XM_017015852.2:c.889C>A, XM_017015852.1:c.889C>A, XM_017015855.2:c.889C>A, XM_017015855.1:c.889C>A, NM_001318241.2:c.796C>A, NM_001318241.1:c.796C>A, NM_001318243.2:c.790C>A, NM_001318243.1:c.790C>A, XM_017015857.2:c.889C>A, XM_017015857.1:c.889C>A, NR_134531.2:n.1077C>A, NR_134531.1:n.1119C>A, NR_134532.2:n.920C>A, NR_134532.1:n.1127C>A, NR_134533.2:n.530C>A, NR_134533.1:n.737C>A, NR_134534.2:n.454C>A, NR_134534.1:n.661C>A, XM_047424720.1:c.950C>A, XM_047424721.1:c.889C>A, NR_165441.1:n.1074C>A, XM_047424722.1:c.711C>A, NP_689923.3:p.Leu265Ile, XP_016871348.1:p.Thr317Asn, XP_016871350.1:p.Asp269Glu, XP_016871334.1:p.Leu297Ile, XP_016871335.1:p.Leu297Ile, XP_016871336.1:p.Leu297Ile, XP_016871345.1:p.Leu297Ile, XP_016871338.1:p.Leu297Ile, XP_016871337.1:p.Leu297Ile, XP_016871347.1:p.Thr317Asn, XP_016871342.1:p.Leu297Ile, NP_001305171.1:p.Leu265Ile, XP_016871343.1:p.Leu297Ile, XP_016871341.1:p.Leu297Ile, XP_016871344.1:p.Leu297Ile, NP_001305170.1:p.Leu266Ile, NP_001305172.1:p.Leu264Ile, XP_016871346.1:p.Leu297Ile, XP_047280676.1:p.Thr317Asn, XP_047280677.1:p.Leu297Ile, XP_047280678.1:p.Asp237Glu

            6.

            rs1476390811 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              10:70777837 (GRCh38)
              10:72537593 (GRCh37)
              Canonical SPDI:
              NC_000010.11:70777836:C:G,NC_000010.11:70777836:C:T
              Gene:
              TBATA (Varview)
              Functional Consequence:
              intron_variant,stop_gained,missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.70777837C>G, NC_000010.11:g.70777837C>T, NC_000010.10:g.72537593C>G, NC_000010.10:g.72537593C>T, XM_017015859.3:c.528G>C, XM_017015859.3:c.528G>A, XM_017015859.2:c.528G>C, XM_017015859.2:c.528G>A, XM_017015859.1:c.528G>C, XM_017015859.1:c.528G>A, XM_017015861.3:c.528G>C, XM_017015861.3:c.528G>A, XM_017015861.2:c.528G>C, XM_017015861.2:c.528G>A, XM_017015861.1:c.528G>C, XM_017015861.1:c.528G>A, XM_017015845.2:c.528G>C, XM_017015845.2:c.528G>A, XM_017015845.1:c.528G>C, XM_017015845.1:c.528G>A, XM_017015846.2:c.528G>C, XM_017015846.2:c.528G>A, XM_017015846.1:c.528G>C, XM_017015846.1:c.528G>A, XM_017015847.2:c.528G>C, XM_017015847.2:c.528G>A, XM_017015847.1:c.528G>C, XM_017015847.1:c.528G>A, XM_017015856.2:c.528G>C, XM_017015856.2:c.528G>A, XM_017015856.1:c.528G>C, XM_017015856.1:c.528G>A, XM_017015849.2:c.528G>C, XM_017015849.2:c.528G>A, XM_017015849.1:c.528G>C, XM_017015849.1:c.528G>A, XM_017015848.2:c.528G>C, XM_017015848.2:c.528G>A, XM_017015848.1:c.528G>C, XM_017015848.1:c.528G>A, XM_017015858.2:c.528G>C, XM_017015858.2:c.528G>A, XM_017015858.1:c.528G>C, XM_017015858.1:c.528G>A, XM_017015853.2:c.528G>C, XM_017015853.2:c.528G>A, XM_017015853.1:c.528G>C, XM_017015853.1:c.528G>A, XM_017015850.2:c.528G>C, XM_017015850.2:c.528G>A, XM_017015850.1:c.528G>C, XM_017015850.1:c.528G>A, XM_017015851.2:c.525G>C, XM_017015851.2:c.525G>A, XM_017015851.1:c.525G>C, XM_017015851.1:c.525G>A, XM_017015854.2:c.528G>C, XM_017015854.2:c.528G>A, XM_017015854.1:c.528G>C, XM_017015854.1:c.528G>A, XM_017015852.2:c.528G>C, XM_017015852.2:c.528G>A, XM_017015852.1:c.528G>C, XM_017015852.1:c.528G>A, XM_017015855.2:c.528G>C, XM_017015855.2:c.528G>A, XM_017015855.1:c.528G>C, XM_017015855.1:c.528G>A, XM_017015857.2:c.528G>C, XM_017015857.2:c.528G>A, XM_017015857.1:c.528G>C, XM_017015857.1:c.528G>A, XM_017015860.2:c.528G>C, XM_017015860.2:c.528G>A, XM_017015860.1:c.528G>C, XM_017015860.1:c.528G>A, NR_134532.2:n.498G>C, NR_134532.2:n.498G>A, NR_134532.1:n.705G>C, NR_134532.1:n.705G>A, XR_001747058.2:n.894G>C, XR_001747058.2:n.894G>A, XR_001747058.1:n.918G>C, XR_001747058.1:n.918G>A, XM_047424720.1:c.528G>C, XM_047424720.1:c.528G>A, XM_047424721.1:c.528G>C, XM_047424721.1:c.528G>A, XP_016871348.1:p.Trp176Cys, XP_016871348.1:p.Trp176Ter, XP_016871350.1:p.Trp176Cys, XP_016871350.1:p.Trp176Ter, XP_016871334.1:p.Trp176Cys, XP_016871334.1:p.Trp176Ter, XP_016871335.1:p.Trp176Cys, XP_016871335.1:p.Trp176Ter, XP_016871336.1:p.Trp176Cys, XP_016871336.1:p.Trp176Ter, XP_016871345.1:p.Trp176Cys, XP_016871345.1:p.Trp176Ter, XP_016871338.1:p.Trp176Cys, XP_016871338.1:p.Trp176Ter, XP_016871337.1:p.Trp176Cys, XP_016871337.1:p.Trp176Ter, XP_016871347.1:p.Trp176Cys, XP_016871347.1:p.Trp176Ter, XP_016871342.1:p.Trp176Cys, XP_016871342.1:p.Trp176Ter, XP_016871339.1:p.Trp176Cys, XP_016871339.1:p.Trp176Ter, XP_016871340.1:p.Trp175Cys, XP_016871340.1:p.Trp175Ter, XP_016871343.1:p.Trp176Cys, XP_016871343.1:p.Trp176Ter, XP_016871341.1:p.Trp176Cys, XP_016871341.1:p.Trp176Ter, XP_016871344.1:p.Trp176Cys, XP_016871344.1:p.Trp176Ter, XP_016871346.1:p.Trp176Cys, XP_016871346.1:p.Trp176Ter, XP_016871349.1:p.Trp176Cys, XP_016871349.1:p.Trp176Ter, XP_047280676.1:p.Trp176Cys, XP_047280676.1:p.Trp176Ter, XP_047280677.1:p.Trp176Cys, XP_047280677.1:p.Trp176Ter

              7.

              rs1475486788 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTTTGGGG [Show Flanks]
                Chromosome:
                10:70781890 (GRCh38)
                10:72541647 (GRCh37)
                Canonical SPDI:
                NC_000010.11:70781890:TTTGGGGCTTTGGGG:TTTGGGGCTTTGGGGCTTTGGGG
                Gene:
                TBATA (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTGGGGCTTTGGGGCTTTGGGG=0.000071/1 (ALFA)
                TTTGGGGC=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.70781898_70781905dup, NC_000010.10:g.72541654_72541661dup, NM_152710.4:c.180_187dup, NM_152710.3:c.180_187dup, NM_152710.2:c.180_187dup, XM_017015859.3:c.180_187dup, XM_017015859.2:c.180_187dup, XM_017015859.1:c.180_187dup, XM_017015861.3:c.180_187dup, XM_017015861.2:c.180_187dup, XM_017015861.1:c.180_187dup, XM_017015845.2:c.180_187dup, XM_017015845.1:c.180_187dup, XM_017015846.2:c.180_187dup, XM_017015846.1:c.180_187dup, XM_017015847.2:c.180_187dup, XM_017015847.1:c.180_187dup, XM_017015856.2:c.180_187dup, XM_017015856.1:c.180_187dup, XM_017015849.2:c.180_187dup, XM_017015849.1:c.180_187dup, XM_017015848.2:c.180_187dup, XM_017015848.1:c.180_187dup, XM_017015858.2:c.180_187dup, XM_017015858.1:c.180_187dup, XM_017015853.2:c.180_187dup, XM_017015853.1:c.180_187dup, XM_017015850.2:c.180_187dup, XM_017015850.1:c.180_187dup, XM_017015851.2:c.180_187dup, XM_017015851.1:c.180_187dup, NM_001318242.2:c.180_187dup, NM_001318242.1:c.180_187dup, XM_017015854.2:c.180_187dup, XM_017015854.1:c.180_187dup, XM_017015852.2:c.180_187dup, XM_017015852.1:c.180_187dup, XM_017015855.2:c.180_187dup, XM_017015855.1:c.180_187dup, NM_001318241.2:c.180_187dup, NM_001318241.1:c.180_187dup, NM_001318243.2:c.180_187dup, NM_001318243.1:c.180_187dup, XM_017015857.2:c.180_187dup, XM_017015857.1:c.180_187dup, NR_134531.2:n.546_553dup, NR_134531.1:n.588_595dup, XM_017015860.2:c.180_187dup, XM_017015860.1:c.180_187dup, NR_134532.2:n.153_160dup, NR_134532.1:n.360_367dup, XR_001747058.2:n.546_553dup, XR_001747058.1:n.570_577dup, XM_017015862.2:c.180_187dup, XM_017015862.1:c.180_187dup, NR_134533.2:n.153_160dup, NR_134533.1:n.360_367dup, NR_134534.2:n.153_160dup, NR_134534.1:n.360_367dup, XM_047424720.1:c.180_187dup, XM_047424721.1:c.180_187dup, NR_165441.1:n.546_553dup, XM_047424722.1:c.180_187dup, NP_689923.3:p.Thr63fs, XP_016871348.1:p.Thr63fs, XP_016871350.1:p.Thr63fs, XP_016871334.1:p.Thr63fs, XP_016871335.1:p.Thr63fs, XP_016871336.1:p.Thr63fs, XP_016871345.1:p.Thr63fs, XP_016871338.1:p.Thr63fs, XP_016871337.1:p.Thr63fs, XP_016871347.1:p.Thr63fs, XP_016871342.1:p.Thr63fs, XP_016871339.1:p.Thr63fs, XP_016871340.1:p.Thr63fs, NP_001305171.1:p.Thr63fs, XP_016871343.1:p.Thr63fs, XP_016871341.1:p.Thr63fs, XP_016871344.1:p.Thr63fs, NP_001305170.1:p.Thr63fs, NP_001305172.1:p.Thr63fs, XP_016871346.1:p.Thr63fs, XP_016871349.1:p.Thr63fs, XP_016871351.1:p.Thr63fs, XP_047280676.1:p.Thr63fs, XP_047280677.1:p.Thr63fs, XP_047280678.1:p.Thr63fs

                8.

                rs1469002574 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:70783362 (GRCh38)
                  10:72543118 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:70783361:T:C
                  Gene:
                  TBATA (Varview)
                  Functional Consequence:
                  synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000010.11:g.70783362T>C, NC_000010.10:g.72543118T>C, NM_152710.4:c.18A>G, NM_152710.3:c.18A>G, NM_152710.2:c.18A>G, XM_017015859.3:c.18A>G, XM_017015859.2:c.18A>G, XM_017015859.1:c.18A>G, XM_017015861.3:c.18A>G, XM_017015861.2:c.18A>G, XM_017015861.1:c.18A>G, XM_017015845.2:c.18A>G, XM_017015845.1:c.18A>G, XM_017015846.2:c.18A>G, XM_017015846.1:c.18A>G, XM_017015847.2:c.18A>G, XM_017015847.1:c.18A>G, XM_017015856.2:c.18A>G, XM_017015856.1:c.18A>G, XM_017015849.2:c.18A>G, XM_017015849.1:c.18A>G, XM_017015848.2:c.18A>G, XM_017015848.1:c.18A>G, XM_017015858.2:c.18A>G, XM_017015858.1:c.18A>G, XM_017015853.2:c.18A>G, XM_017015853.1:c.18A>G, XM_017015850.2:c.18A>G, XM_017015850.1:c.18A>G, XM_017015851.2:c.18A>G, XM_017015851.1:c.18A>G, NM_001318242.2:c.18A>G, NM_001318242.1:c.18A>G, XM_017015854.2:c.18A>G, XM_017015854.1:c.18A>G, XM_017015852.2:c.18A>G, XM_017015852.1:c.18A>G, XM_017015855.2:c.18A>G, XM_017015855.1:c.18A>G, NM_001318241.2:c.18A>G, NM_001318241.1:c.18A>G, NM_001318243.2:c.18A>G, NM_001318243.1:c.18A>G, XM_017015857.2:c.18A>G, XM_017015857.1:c.18A>G, NR_134531.2:n.384A>G, NR_134531.1:n.426A>G, XM_017015860.2:c.18A>G, XM_017015860.1:c.18A>G, XR_001747058.2:n.384A>G, XR_001747058.1:n.408A>G, XM_017015862.2:c.18A>G, XM_017015862.1:c.18A>G, XM_047424720.1:c.18A>G, XM_047424721.1:c.18A>G, NR_165441.1:n.384A>G, XM_047424722.1:c.18A>G

                  9.

                  rs1468437682 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    10:70781811 (GRCh38)
                    10:72541567 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:70781810:G:T
                    Gene:
                    TBATA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000010.11:g.70781811G>T, NC_000010.10:g.72541567G>T, NM_152710.4:c.267C>A, NM_152710.3:c.267C>A, NM_152710.2:c.267C>A, XM_017015859.3:c.267C>A, XM_017015859.2:c.267C>A, XM_017015859.1:c.267C>A, XM_017015861.3:c.267C>A, XM_017015861.2:c.267C>A, XM_017015861.1:c.267C>A, XM_017015845.2:c.267C>A, XM_017015845.1:c.267C>A, XM_017015846.2:c.267C>A, XM_017015846.1:c.267C>A, XM_017015847.2:c.267C>A, XM_017015847.1:c.267C>A, XM_017015856.2:c.267C>A, XM_017015856.1:c.267C>A, XM_017015849.2:c.267C>A, XM_017015849.1:c.267C>A, XM_017015848.2:c.267C>A, XM_017015848.1:c.267C>A, XM_017015858.2:c.267C>A, XM_017015858.1:c.267C>A, XM_017015853.2:c.267C>A, XM_017015853.1:c.267C>A, XM_017015850.2:c.267C>A, XM_017015850.1:c.267C>A, XM_017015851.2:c.267C>A, XM_017015851.1:c.267C>A, NM_001318242.2:c.267C>A, NM_001318242.1:c.267C>A, XM_017015854.2:c.267C>A, XM_017015854.1:c.267C>A, XM_017015852.2:c.267C>A, XM_017015852.1:c.267C>A, XM_017015855.2:c.267C>A, XM_017015855.1:c.267C>A, NM_001318241.2:c.267C>A, NM_001318241.1:c.267C>A, NM_001318243.2:c.267C>A, NM_001318243.1:c.267C>A, XM_017015857.2:c.267C>A, XM_017015857.1:c.267C>A, NR_134531.2:n.633C>A, NR_134531.1:n.675C>A, XM_017015860.2:c.267C>A, XM_017015860.1:c.267C>A, NR_134532.2:n.240C>A, NR_134532.1:n.447C>A, XR_001747058.2:n.633C>A, XR_001747058.1:n.657C>A, XM_017015862.2:c.267C>A, XM_017015862.1:c.267C>A, NR_134533.2:n.240C>A, NR_134533.1:n.447C>A, NR_134534.2:n.240C>A, NR_134534.1:n.447C>A, XM_047424720.1:c.267C>A, XM_047424721.1:c.267C>A, NR_165441.1:n.633C>A, XM_047424722.1:c.267C>A

                    10.

                    rs1466607925 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:70777852 (GRCh38)
                      10:72537608 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:70777851:A:G
                      Gene:
                      TBATA (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/1 (GnomAD_exomes)
                      G=0.000015/4 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000010.11:g.70777852A>G, NC_000010.10:g.72537608A>G, XM_017015859.3:c.513T>C, XM_017015859.2:c.513T>C, XM_017015859.1:c.513T>C, XM_017015861.3:c.513T>C, XM_017015861.2:c.513T>C, XM_017015861.1:c.513T>C, XM_017015845.2:c.513T>C, XM_017015845.1:c.513T>C, XM_017015846.2:c.513T>C, XM_017015846.1:c.513T>C, XM_017015847.2:c.513T>C, XM_017015847.1:c.513T>C, XM_017015856.2:c.513T>C, XM_017015856.1:c.513T>C, XM_017015849.2:c.513T>C, XM_017015849.1:c.513T>C, XM_017015848.2:c.513T>C, XM_017015848.1:c.513T>C, XM_017015858.2:c.513T>C, XM_017015858.1:c.513T>C, XM_017015853.2:c.513T>C, XM_017015853.1:c.513T>C, XM_017015850.2:c.513T>C, XM_017015850.1:c.513T>C, XM_017015851.2:c.510T>C, XM_017015851.1:c.510T>C, XM_017015854.2:c.513T>C, XM_017015854.1:c.513T>C, XM_017015852.2:c.513T>C, XM_017015852.1:c.513T>C, XM_017015855.2:c.513T>C, XM_017015855.1:c.513T>C, XM_017015857.2:c.513T>C, XM_017015857.1:c.513T>C, XM_017015860.2:c.513T>C, XM_017015860.1:c.513T>C, NR_134532.2:n.483T>C, NR_134532.1:n.690T>C, XR_001747058.2:n.879T>C, XR_001747058.1:n.903T>C, XM_047424720.1:c.513T>C, XM_047424721.1:c.513T>C

                      11.

                      rs1463156619 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:70781907 (GRCh38)
                        10:72541663 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:70781906:C:T
                        Gene:
                        TBATA (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.70781907C>T, NC_000010.10:g.72541663C>T, NM_152710.4:c.171G>A, NM_152710.3:c.171G>A, NM_152710.2:c.171G>A, XM_017015859.3:c.171G>A, XM_017015859.2:c.171G>A, XM_017015859.1:c.171G>A, XM_017015861.3:c.171G>A, XM_017015861.2:c.171G>A, XM_017015861.1:c.171G>A, XM_017015845.2:c.171G>A, XM_017015845.1:c.171G>A, XM_017015846.2:c.171G>A, XM_017015846.1:c.171G>A, XM_017015847.2:c.171G>A, XM_017015847.1:c.171G>A, XM_017015856.2:c.171G>A, XM_017015856.1:c.171G>A, XM_017015849.2:c.171G>A, XM_017015849.1:c.171G>A, XM_017015848.2:c.171G>A, XM_017015848.1:c.171G>A, XM_017015858.2:c.171G>A, XM_017015858.1:c.171G>A, XM_017015853.2:c.171G>A, XM_017015853.1:c.171G>A, XM_017015850.2:c.171G>A, XM_017015850.1:c.171G>A, XM_017015851.2:c.171G>A, XM_017015851.1:c.171G>A, NM_001318242.2:c.171G>A, NM_001318242.1:c.171G>A, XM_017015854.2:c.171G>A, XM_017015854.1:c.171G>A, XM_017015852.2:c.171G>A, XM_017015852.1:c.171G>A, XM_017015855.2:c.171G>A, XM_017015855.1:c.171G>A, NM_001318241.2:c.171G>A, NM_001318241.1:c.171G>A, NM_001318243.2:c.171G>A, NM_001318243.1:c.171G>A, XM_017015857.2:c.171G>A, XM_017015857.1:c.171G>A, NR_134531.2:n.537G>A, NR_134531.1:n.579G>A, XM_017015860.2:c.171G>A, XM_017015860.1:c.171G>A, NR_134532.2:n.144G>A, NR_134532.1:n.351G>A, XR_001747058.2:n.537G>A, XR_001747058.1:n.561G>A, XM_017015862.2:c.171G>A, XM_017015862.1:c.171G>A, NR_134533.2:n.144G>A, NR_134533.1:n.351G>A, NR_134534.2:n.144G>A, NR_134534.1:n.351G>A, XM_047424720.1:c.171G>A, XM_047424721.1:c.171G>A, NR_165441.1:n.537G>A, XM_047424722.1:c.171G>A

                        12.

                        rs1457816418 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:70777162 (GRCh38)
                          10:72536918 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:70777161:C:T
                          Gene:
                          TBATA (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000010.11:g.70777162C>T, NC_000010.10:g.72536918C>T, NM_152710.4:c.681G>A, NM_152710.3:c.681G>A, NM_152710.2:c.681G>A, XM_017015859.3:c.777G>A, XM_017015859.2:c.777G>A, XM_017015859.1:c.777G>A, XM_017015861.3:c.777G>A, XM_017015861.2:c.777G>A, XM_017015861.1:c.777G>A, XM_017015845.2:c.777G>A, XM_017015845.1:c.777G>A, XM_017015846.2:c.777G>A, XM_017015846.1:c.777G>A, XM_017015847.2:c.777G>A, XM_017015847.1:c.777G>A, XM_017015856.2:c.777G>A, XM_017015856.1:c.777G>A, XM_017015849.2:c.777G>A, XM_017015849.1:c.777G>A, XM_017015848.2:c.777G>A, XM_017015848.1:c.777G>A, XM_017015858.2:c.777G>A, XM_017015858.1:c.777G>A, XM_017015853.2:c.777G>A, XM_017015853.1:c.777G>A, XM_017015850.2:c.777G>A, XM_017015850.1:c.777G>A, XM_017015851.2:c.774G>A, XM_017015851.1:c.774G>A, NM_001318242.2:c.681G>A, NM_001318242.1:c.681G>A, XM_017015854.2:c.777G>A, XM_017015854.1:c.777G>A, XM_017015852.2:c.777G>A, XM_017015852.1:c.777G>A, XM_017015855.2:c.777G>A, XM_017015855.1:c.777G>A, NM_001318241.2:c.684G>A, NM_001318241.1:c.684G>A, NM_001318243.2:c.678G>A, NM_001318243.1:c.678G>A, XM_017015857.2:c.777G>A, XM_017015857.1:c.777G>A, NR_134531.2:n.1047G>A, NR_134531.1:n.1089G>A, XM_017015860.2:c.777G>A, XM_017015860.1:c.777G>A, NR_134532.2:n.747G>A, NR_134532.1:n.954G>A, XR_001747058.2:n.1241G>A, XM_017015862.2:c.*31G>A, XM_017015862.1:c.*31G>A, NR_134533.2:n.424G>A, NR_134533.1:n.631G>A, NR_134534.2:n.424G>A, NR_134534.1:n.631G>A, XM_047424720.1:c.777G>A, XM_047424721.1:c.777G>A, NR_165441.1:n.1044G>A, XM_047424722.1:c.681G>A

                          13.

                          rs1453871430 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:70778607 (GRCh38)
                            10:72538363 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:70778606:C:T
                            Gene:
                            TBATA (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000010.11:g.70778607C>T, NC_000010.10:g.72538363C>T, NM_152710.4:c.457G>A, NM_152710.3:c.457G>A, NM_152710.2:c.457G>A, XM_017015859.3:c.457G>A, XM_017015859.2:c.457G>A, XM_017015859.1:c.457G>A, XM_017015861.3:c.457G>A, XM_017015861.2:c.457G>A, XM_017015861.1:c.457G>A, XM_017015845.2:c.457G>A, XM_017015845.1:c.457G>A, XM_017015846.2:c.457G>A, XM_017015846.1:c.457G>A, XM_017015847.2:c.457G>A, XM_017015847.1:c.457G>A, XM_017015856.2:c.457G>A, XM_017015856.1:c.457G>A, XM_017015849.2:c.457G>A, XM_017015849.1:c.457G>A, XM_017015848.2:c.457G>A, XM_017015848.1:c.457G>A, XM_017015858.2:c.457G>A, XM_017015858.1:c.457G>A, XM_017015853.2:c.457G>A, XM_017015853.1:c.457G>A, XM_017015850.2:c.457G>A, XM_017015850.1:c.457G>A, XM_017015851.2:c.454G>A, XM_017015851.1:c.454G>A, NM_001318242.2:c.457G>A, NM_001318242.1:c.457G>A, XM_017015854.2:c.457G>A, XM_017015854.1:c.457G>A, XM_017015852.2:c.457G>A, XM_017015852.1:c.457G>A, XM_017015855.2:c.457G>A, XM_017015855.1:c.457G>A, NM_001318241.2:c.457G>A, NM_001318241.1:c.457G>A, NM_001318243.2:c.454G>A, NM_001318243.1:c.454G>A, XM_017015857.2:c.457G>A, XM_017015857.1:c.457G>A, NR_134531.2:n.823G>A, NR_134531.1:n.865G>A, XM_017015860.2:c.457G>A, XM_017015860.1:c.457G>A, NR_134532.2:n.427G>A, NR_134532.1:n.634G>A, XR_001747058.2:n.823G>A, XR_001747058.1:n.847G>A, XM_017015862.2:c.457G>A, XM_017015862.1:c.457G>A, XM_047424720.1:c.457G>A, XM_047424721.1:c.457G>A, NR_165441.1:n.820G>A, XM_047424722.1:c.457G>A, NP_689923.3:p.Ala153Thr, XP_016871348.1:p.Ala153Thr, XP_016871350.1:p.Ala153Thr, XP_016871334.1:p.Ala153Thr, XP_016871335.1:p.Ala153Thr, XP_016871336.1:p.Ala153Thr, XP_016871345.1:p.Ala153Thr, XP_016871338.1:p.Ala153Thr, XP_016871337.1:p.Ala153Thr, XP_016871347.1:p.Ala153Thr, XP_016871342.1:p.Ala153Thr, XP_016871339.1:p.Ala153Thr, XP_016871340.1:p.Ala152Thr, NP_001305171.1:p.Ala153Thr, XP_016871343.1:p.Ala153Thr, XP_016871341.1:p.Ala153Thr, XP_016871344.1:p.Ala153Thr, NP_001305170.1:p.Ala153Thr, NP_001305172.1:p.Ala152Thr, XP_016871346.1:p.Ala153Thr, XP_016871349.1:p.Ala153Thr, XP_016871351.1:p.Ala153Thr, XP_047280676.1:p.Ala153Thr, XP_047280677.1:p.Ala153Thr, XP_047280678.1:p.Ala153Thr

                            14.

                            rs1447046294 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:70781823 (GRCh38)
                              10:72541579 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:70781822:G:A
                              Gene:
                              TBATA (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.70781823G>A, NC_000010.10:g.72541579G>A, NM_152710.4:c.255C>T, NM_152710.3:c.255C>T, NM_152710.2:c.255C>T, XM_017015859.3:c.255C>T, XM_017015859.2:c.255C>T, XM_017015859.1:c.255C>T, XM_017015861.3:c.255C>T, XM_017015861.2:c.255C>T, XM_017015861.1:c.255C>T, XM_017015845.2:c.255C>T, XM_017015845.1:c.255C>T, XM_017015846.2:c.255C>T, XM_017015846.1:c.255C>T, XM_017015847.2:c.255C>T, XM_017015847.1:c.255C>T, XM_017015856.2:c.255C>T, XM_017015856.1:c.255C>T, XM_017015849.2:c.255C>T, XM_017015849.1:c.255C>T, XM_017015848.2:c.255C>T, XM_017015848.1:c.255C>T, XM_017015858.2:c.255C>T, XM_017015858.1:c.255C>T, XM_017015853.2:c.255C>T, XM_017015853.1:c.255C>T, XM_017015850.2:c.255C>T, XM_017015850.1:c.255C>T, XM_017015851.2:c.255C>T, XM_017015851.1:c.255C>T, NM_001318242.2:c.255C>T, NM_001318242.1:c.255C>T, XM_017015854.2:c.255C>T, XM_017015854.1:c.255C>T, XM_017015852.2:c.255C>T, XM_017015852.1:c.255C>T, XM_017015855.2:c.255C>T, XM_017015855.1:c.255C>T, NM_001318241.2:c.255C>T, NM_001318241.1:c.255C>T, NM_001318243.2:c.255C>T, NM_001318243.1:c.255C>T, XM_017015857.2:c.255C>T, XM_017015857.1:c.255C>T, NR_134531.2:n.621C>T, NR_134531.1:n.663C>T, XM_017015860.2:c.255C>T, XM_017015860.1:c.255C>T, NR_134532.2:n.228C>T, NR_134532.1:n.435C>T, XR_001747058.2:n.621C>T, XR_001747058.1:n.645C>T, XM_017015862.2:c.255C>T, XM_017015862.1:c.255C>T, NR_134533.2:n.228C>T, NR_134533.1:n.435C>T, NR_134534.2:n.228C>T, NR_134534.1:n.435C>T, XM_047424720.1:c.255C>T, XM_047424721.1:c.255C>T, NR_165441.1:n.621C>T, XM_047424722.1:c.255C>T

                              15.

                              rs1439614695 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                10:70777763 (GRCh38)
                                10:72537519 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:70777762:T:A
                                Gene:
                                TBATA (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.0001/1 (ALFA)
                                HGVS:
                                NC_000010.11:g.70777763T>A, NC_000010.10:g.72537519T>A, XM_017015859.3:c.602A>T, XM_017015859.2:c.602A>T, XM_017015859.1:c.602A>T, XM_017015861.3:c.602A>T, XM_017015861.2:c.602A>T, XM_017015861.1:c.602A>T, XM_017015845.2:c.602A>T, XM_017015845.1:c.602A>T, XM_017015846.2:c.602A>T, XM_017015846.1:c.602A>T, XM_017015847.2:c.602A>T, XM_017015847.1:c.602A>T, XM_017015856.2:c.602A>T, XM_017015856.1:c.602A>T, XM_017015849.2:c.602A>T, XM_017015849.1:c.602A>T, XM_017015848.2:c.602A>T, XM_017015848.1:c.602A>T, XM_017015858.2:c.602A>T, XM_017015858.1:c.602A>T, XM_017015853.2:c.602A>T, XM_017015853.1:c.602A>T, XM_017015850.2:c.602A>T, XM_017015850.1:c.602A>T, XM_017015851.2:c.599A>T, XM_017015851.1:c.599A>T, XM_017015854.2:c.602A>T, XM_017015854.1:c.602A>T, XM_017015852.2:c.602A>T, XM_017015852.1:c.602A>T, XM_017015855.2:c.602A>T, XM_017015855.1:c.602A>T, XM_017015857.2:c.602A>T, XM_017015857.1:c.602A>T, XM_017015860.2:c.602A>T, XM_017015860.1:c.602A>T, NR_134532.2:n.572A>T, NR_134532.1:n.779A>T, XR_001747058.2:n.968A>T, XR_001747058.1:n.992A>T, XM_047424720.1:c.602A>T, XM_047424721.1:c.602A>T, XP_016871348.1:p.Lys201Met, XP_016871350.1:p.Lys201Met, XP_016871334.1:p.Lys201Met, XP_016871335.1:p.Lys201Met, XP_016871336.1:p.Lys201Met, XP_016871345.1:p.Lys201Met, XP_016871338.1:p.Lys201Met, XP_016871337.1:p.Lys201Met, XP_016871347.1:p.Lys201Met, XP_016871342.1:p.Lys201Met, XP_016871339.1:p.Lys201Met, XP_016871340.1:p.Lys200Met, XP_016871343.1:p.Lys201Met, XP_016871341.1:p.Lys201Met, XP_016871344.1:p.Lys201Met, XP_016871346.1:p.Lys201Met, XP_016871349.1:p.Lys201Met, XP_047280676.1:p.Lys201Met, XP_047280677.1:p.Lys201Met

                                16.

                                rs1438728385 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  10:70781972 (GRCh38)
                                  10:72541728 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:70781971:C:A
                                  Gene:
                                  TBATA (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.70781972C>A, NC_000010.10:g.72541728C>A, NM_152710.4:c.106G>T, NM_152710.3:c.106G>T, NM_152710.2:c.106G>T, XM_017015859.3:c.106G>T, XM_017015859.2:c.106G>T, XM_017015859.1:c.106G>T, XM_017015861.3:c.106G>T, XM_017015861.2:c.106G>T, XM_017015861.1:c.106G>T, XM_017015845.2:c.106G>T, XM_017015845.1:c.106G>T, XM_017015846.2:c.106G>T, XM_017015846.1:c.106G>T, XM_017015847.2:c.106G>T, XM_017015847.1:c.106G>T, XM_017015856.2:c.106G>T, XM_017015856.1:c.106G>T, XM_017015849.2:c.106G>T, XM_017015849.1:c.106G>T, XM_017015848.2:c.106G>T, XM_017015848.1:c.106G>T, XM_017015858.2:c.106G>T, XM_017015858.1:c.106G>T, XM_017015853.2:c.106G>T, XM_017015853.1:c.106G>T, XM_017015850.2:c.106G>T, XM_017015850.1:c.106G>T, XM_017015851.2:c.106G>T, XM_017015851.1:c.106G>T, NM_001318242.2:c.106G>T, NM_001318242.1:c.106G>T, XM_017015854.2:c.106G>T, XM_017015854.1:c.106G>T, XM_017015852.2:c.106G>T, XM_017015852.1:c.106G>T, XM_017015855.2:c.106G>T, XM_017015855.1:c.106G>T, NM_001318241.2:c.106G>T, NM_001318241.1:c.106G>T, NM_001318243.2:c.106G>T, NM_001318243.1:c.106G>T, XM_017015857.2:c.106G>T, XM_017015857.1:c.106G>T, NR_134531.2:n.472G>T, NR_134531.1:n.514G>T, XM_017015860.2:c.106G>T, XM_017015860.1:c.106G>T, NR_134532.2:n.79G>T, NR_134532.1:n.286G>T, XR_001747058.2:n.472G>T, XR_001747058.1:n.496G>T, XM_017015862.2:c.106G>T, XM_017015862.1:c.106G>T, NR_134533.2:n.79G>T, NR_134533.1:n.286G>T, NR_134534.2:n.79G>T, NR_134534.1:n.286G>T, XM_047424720.1:c.106G>T, XM_047424721.1:c.106G>T, NR_165441.1:n.472G>T, XM_047424722.1:c.106G>T, NP_689923.3:p.Gly36Trp, XP_016871348.1:p.Gly36Trp, XP_016871350.1:p.Gly36Trp, XP_016871334.1:p.Gly36Trp, XP_016871335.1:p.Gly36Trp, XP_016871336.1:p.Gly36Trp, XP_016871345.1:p.Gly36Trp, XP_016871338.1:p.Gly36Trp, XP_016871337.1:p.Gly36Trp, XP_016871347.1:p.Gly36Trp, XP_016871342.1:p.Gly36Trp, XP_016871339.1:p.Gly36Trp, XP_016871340.1:p.Gly36Trp, NP_001305171.1:p.Gly36Trp, XP_016871343.1:p.Gly36Trp, XP_016871341.1:p.Gly36Trp, XP_016871344.1:p.Gly36Trp, NP_001305170.1:p.Gly36Trp, NP_001305172.1:p.Gly36Trp, XP_016871346.1:p.Gly36Trp, XP_016871349.1:p.Gly36Trp, XP_016871351.1:p.Gly36Trp, XP_047280676.1:p.Gly36Trp, XP_047280677.1:p.Gly36Trp, XP_047280678.1:p.Gly36Trp

                                  17.

                                  rs1437113937 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    10:70774323 (GRCh38)
                                    10:72534079 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:70774322:T:G
                                    Gene:
                                    TBATA (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000010.11:g.70774323T>G, NC_000010.10:g.72534079T>G, NM_152710.4:c.807A>C, NM_152710.3:c.807A>C, NM_152710.2:c.807A>C, XM_017015859.3:c.964A>C, XM_017015859.2:c.964A>C, XM_017015859.1:c.964A>C, XM_017015861.3:c.821A>C, XM_017015861.2:c.821A>C, XM_017015861.1:c.821A>C, XM_017015845.2:c.903A>C, XM_017015845.1:c.903A>C, XM_017015846.2:c.903A>C, XM_017015846.1:c.903A>C, XM_017015847.2:c.903A>C, XM_017015847.1:c.903A>C, XM_017015856.2:c.903A>C, XM_017015856.1:c.903A>C, XM_017015849.2:c.903A>C, XM_017015849.1:c.903A>C, XM_017015848.2:c.903A>C, XM_017015848.1:c.903A>C, XM_017015858.2:c.964A>C, XM_017015858.1:c.964A>C, XM_017015853.2:c.903A>C, XM_017015853.1:c.903A>C, NM_001318242.2:c.807A>C, NM_001318242.1:c.807A>C, XM_017015854.2:c.903A>C, XM_017015854.1:c.903A>C, XM_017015852.2:c.903A>C, XM_017015852.1:c.903A>C, XM_017015855.2:c.903A>C, XM_017015855.1:c.903A>C, NM_001318241.2:c.810A>C, NM_001318241.1:c.810A>C, NM_001318243.2:c.804A>C, NM_001318243.1:c.804A>C, XM_017015857.2:c.903A>C, XM_017015857.1:c.903A>C, NR_134531.2:n.1091A>C, NR_134531.1:n.1133A>C, NR_134532.2:n.934A>C, NR_134532.1:n.1141A>C, NR_134533.2:n.544A>C, NR_134533.1:n.751A>C, NR_134534.2:n.468A>C, NR_134534.1:n.675A>C, XM_047424720.1:c.964A>C, XM_047424721.1:c.903A>C, NR_165441.1:n.1088A>C, XM_047424722.1:c.725A>C, XP_016871348.1:p.Ser322Arg, XP_016871350.1:p.Gln274Pro, XP_016871347.1:p.Ser322Arg, XP_047280676.1:p.Ser322Arg, XP_047280678.1:p.Gln242Pro

                                    18.

                                    rs1434851128 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:70779616 (GRCh38)
                                      10:72539372 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:70779615:T:C
                                      Gene:
                                      TBATA (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.70779616T>C, NC_000010.10:g.72539372T>C, NM_152710.4:c.404A>G, NM_152710.3:c.404A>G, NM_152710.2:c.404A>G, XM_017015859.3:c.404A>G, XM_017015859.2:c.404A>G, XM_017015859.1:c.404A>G, XM_017015861.3:c.404A>G, XM_017015861.2:c.404A>G, XM_017015861.1:c.404A>G, XM_017015845.2:c.404A>G, XM_017015845.1:c.404A>G, XM_017015846.2:c.404A>G, XM_017015846.1:c.404A>G, XM_017015847.2:c.404A>G, XM_017015847.1:c.404A>G, XM_017015856.2:c.404A>G, XM_017015856.1:c.404A>G, XM_017015849.2:c.404A>G, XM_017015849.1:c.404A>G, XM_017015848.2:c.404A>G, XM_017015848.1:c.404A>G, XM_017015858.2:c.404A>G, XM_017015858.1:c.404A>G, XM_017015853.2:c.404A>G, XM_017015853.1:c.404A>G, XM_017015850.2:c.404A>G, XM_017015850.1:c.404A>G, XM_017015851.2:c.404A>G, XM_017015851.1:c.404A>G, NM_001318242.2:c.404A>G, NM_001318242.1:c.404A>G, XM_017015854.2:c.404A>G, XM_017015854.1:c.404A>G, XM_017015852.2:c.404A>G, XM_017015852.1:c.404A>G, XM_017015855.2:c.404A>G, XM_017015855.1:c.404A>G, NM_001318241.2:c.404A>G, NM_001318241.1:c.404A>G, NM_001318243.2:c.404A>G, NM_001318243.1:c.404A>G, XM_017015857.2:c.404A>G, XM_017015857.1:c.404A>G, NR_134531.2:n.770A>G, NR_134531.1:n.812A>G, XM_017015860.2:c.404A>G, XM_017015860.1:c.404A>G, NR_134532.2:n.377A>G, NR_134532.1:n.584A>G, XR_001747058.2:n.770A>G, XR_001747058.1:n.794A>G, XM_017015862.2:c.404A>G, XM_017015862.1:c.404A>G, XM_047424720.1:c.404A>G, XM_047424721.1:c.404A>G, NR_165441.1:n.770A>G, XM_047424722.1:c.404A>G, NP_689923.3:p.Asn135Ser, XP_016871348.1:p.Asn135Ser, XP_016871350.1:p.Asn135Ser, XP_016871334.1:p.Asn135Ser, XP_016871335.1:p.Asn135Ser, XP_016871336.1:p.Asn135Ser, XP_016871345.1:p.Asn135Ser, XP_016871338.1:p.Asn135Ser, XP_016871337.1:p.Asn135Ser, XP_016871347.1:p.Asn135Ser, XP_016871342.1:p.Asn135Ser, XP_016871339.1:p.Asn135Ser, XP_016871340.1:p.Asn135Ser, NP_001305171.1:p.Asn135Ser, XP_016871343.1:p.Asn135Ser, XP_016871341.1:p.Asn135Ser, XP_016871344.1:p.Asn135Ser, NP_001305170.1:p.Asn135Ser, NP_001305172.1:p.Asn135Ser, XP_016871346.1:p.Asn135Ser, XP_016871349.1:p.Asn135Ser, XP_016871351.1:p.Asn135Ser, XP_047280676.1:p.Asn135Ser, XP_047280677.1:p.Asn135Ser, XP_047280678.1:p.Asn135Ser

                                      19.

                                      rs1434539521 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        10:70781954 (GRCh38)
                                        10:72541710 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:70781953:C:A,NC_000010.11:70781953:C:T
                                        Gene:
                                        TBATA (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.70781954C>A, NC_000010.11:g.70781954C>T, NC_000010.10:g.72541710C>A, NC_000010.10:g.72541710C>T, NM_152710.4:c.124G>T, NM_152710.4:c.124G>A, NM_152710.3:c.124G>T, NM_152710.3:c.124G>A, NM_152710.2:c.124G>T, NM_152710.2:c.124G>A, XM_017015859.3:c.124G>T, XM_017015859.3:c.124G>A, XM_017015859.2:c.124G>T, XM_017015859.2:c.124G>A, XM_017015859.1:c.124G>T, XM_017015859.1:c.124G>A, XM_017015861.3:c.124G>T, XM_017015861.3:c.124G>A, XM_017015861.2:c.124G>T, XM_017015861.2:c.124G>A, XM_017015861.1:c.124G>T, XM_017015861.1:c.124G>A, XM_017015845.2:c.124G>T, XM_017015845.2:c.124G>A, XM_017015845.1:c.124G>T, XM_017015845.1:c.124G>A, XM_017015846.2:c.124G>T, XM_017015846.2:c.124G>A, XM_017015846.1:c.124G>T, XM_017015846.1:c.124G>A, XM_017015847.2:c.124G>T, XM_017015847.2:c.124G>A, XM_017015847.1:c.124G>T, XM_017015847.1:c.124G>A, XM_017015856.2:c.124G>T, XM_017015856.2:c.124G>A, XM_017015856.1:c.124G>T, XM_017015856.1:c.124G>A, XM_017015849.2:c.124G>T, XM_017015849.2:c.124G>A, XM_017015849.1:c.124G>T, XM_017015849.1:c.124G>A, XM_017015848.2:c.124G>T, XM_017015848.2:c.124G>A, XM_017015848.1:c.124G>T, XM_017015848.1:c.124G>A, XM_017015858.2:c.124G>T, XM_017015858.2:c.124G>A, XM_017015858.1:c.124G>T, XM_017015858.1:c.124G>A, XM_017015853.2:c.124G>T, XM_017015853.2:c.124G>A, XM_017015853.1:c.124G>T, XM_017015853.1:c.124G>A, XM_017015850.2:c.124G>T, XM_017015850.2:c.124G>A, XM_017015850.1:c.124G>T, XM_017015850.1:c.124G>A, XM_017015851.2:c.124G>T, XM_017015851.2:c.124G>A, XM_017015851.1:c.124G>T, XM_017015851.1:c.124G>A, NM_001318242.2:c.124G>T, NM_001318242.2:c.124G>A, NM_001318242.1:c.124G>T, NM_001318242.1:c.124G>A, XM_017015854.2:c.124G>T, XM_017015854.2:c.124G>A, XM_017015854.1:c.124G>T, XM_017015854.1:c.124G>A, XM_017015852.2:c.124G>T, XM_017015852.2:c.124G>A, XM_017015852.1:c.124G>T, XM_017015852.1:c.124G>A, XM_017015855.2:c.124G>T, XM_017015855.2:c.124G>A, XM_017015855.1:c.124G>T, XM_017015855.1:c.124G>A, NM_001318241.2:c.124G>T, NM_001318241.2:c.124G>A, NM_001318241.1:c.124G>T, NM_001318241.1:c.124G>A, NM_001318243.2:c.124G>T, NM_001318243.2:c.124G>A, NM_001318243.1:c.124G>T, NM_001318243.1:c.124G>A, XM_017015857.2:c.124G>T, XM_017015857.2:c.124G>A, XM_017015857.1:c.124G>T, XM_017015857.1:c.124G>A, NR_134531.2:n.490G>T, NR_134531.2:n.490G>A, NR_134531.1:n.532G>T, NR_134531.1:n.532G>A, XM_017015860.2:c.124G>T, XM_017015860.2:c.124G>A, XM_017015860.1:c.124G>T, XM_017015860.1:c.124G>A, NR_134532.2:n.97G>T, NR_134532.2:n.97G>A, NR_134532.1:n.304G>T, NR_134532.1:n.304G>A, XR_001747058.2:n.490G>T, XR_001747058.2:n.490G>A, XR_001747058.1:n.514G>T, XR_001747058.1:n.514G>A, XM_017015862.2:c.124G>T, XM_017015862.2:c.124G>A, XM_017015862.1:c.124G>T, XM_017015862.1:c.124G>A, NR_134533.2:n.97G>T, NR_134533.2:n.97G>A, NR_134533.1:n.304G>T, NR_134533.1:n.304G>A, NR_134534.2:n.97G>T, NR_134534.2:n.97G>A, NR_134534.1:n.304G>T, NR_134534.1:n.304G>A, XM_047424720.1:c.124G>T, XM_047424720.1:c.124G>A, XM_047424721.1:c.124G>T, XM_047424721.1:c.124G>A, NR_165441.1:n.490G>T, NR_165441.1:n.490G>A, XM_047424722.1:c.124G>T, XM_047424722.1:c.124G>A, NP_689923.3:p.Val42Leu, NP_689923.3:p.Val42Met, XP_016871348.1:p.Val42Leu, XP_016871348.1:p.Val42Met, XP_016871350.1:p.Val42Leu, XP_016871350.1:p.Val42Met, XP_016871334.1:p.Val42Leu, XP_016871334.1:p.Val42Met, XP_016871335.1:p.Val42Leu, XP_016871335.1:p.Val42Met, XP_016871336.1:p.Val42Leu, XP_016871336.1:p.Val42Met, XP_016871345.1:p.Val42Leu, XP_016871345.1:p.Val42Met, XP_016871338.1:p.Val42Leu, XP_016871338.1:p.Val42Met, XP_016871337.1:p.Val42Leu, XP_016871337.1:p.Val42Met, XP_016871347.1:p.Val42Leu, XP_016871347.1:p.Val42Met, XP_016871342.1:p.Val42Leu, XP_016871342.1:p.Val42Met, XP_016871339.1:p.Val42Leu, XP_016871339.1:p.Val42Met, XP_016871340.1:p.Val42Leu, XP_016871340.1:p.Val42Met, NP_001305171.1:p.Val42Leu, NP_001305171.1:p.Val42Met, XP_016871343.1:p.Val42Leu, XP_016871343.1:p.Val42Met, XP_016871341.1:p.Val42Leu, XP_016871341.1:p.Val42Met, XP_016871344.1:p.Val42Leu, XP_016871344.1:p.Val42Met, NP_001305170.1:p.Val42Leu, NP_001305170.1:p.Val42Met, NP_001305172.1:p.Val42Leu, NP_001305172.1:p.Val42Met, XP_016871346.1:p.Val42Leu, XP_016871346.1:p.Val42Met, XP_016871349.1:p.Val42Leu, XP_016871349.1:p.Val42Met, XP_016871351.1:p.Val42Leu, XP_016871351.1:p.Val42Met, XP_047280676.1:p.Val42Leu, XP_047280676.1:p.Val42Met, XP_047280677.1:p.Val42Leu, XP_047280677.1:p.Val42Met, XP_047280678.1:p.Val42Leu, XP_047280678.1:p.Val42Met

                                        20.

                                        rs1429278016 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:70779631 (GRCh38)
                                          10:72539387 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:70779630:C:T
                                          Gene:
                                          TBATA (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.70779631C>T, NC_000010.10:g.72539387C>T, NM_152710.4:c.389G>A, NM_152710.3:c.389G>A, NM_152710.2:c.389G>A, XM_017015859.3:c.389G>A, XM_017015859.2:c.389G>A, XM_017015859.1:c.389G>A, XM_017015861.3:c.389G>A, XM_017015861.2:c.389G>A, XM_017015861.1:c.389G>A, XM_017015845.2:c.389G>A, XM_017015845.1:c.389G>A, XM_017015846.2:c.389G>A, XM_017015846.1:c.389G>A, XM_017015847.2:c.389G>A, XM_017015847.1:c.389G>A, XM_017015856.2:c.389G>A, XM_017015856.1:c.389G>A, XM_017015849.2:c.389G>A, XM_017015849.1:c.389G>A, XM_017015848.2:c.389G>A, XM_017015848.1:c.389G>A, XM_017015858.2:c.389G>A, XM_017015858.1:c.389G>A, XM_017015853.2:c.389G>A, XM_017015853.1:c.389G>A, XM_017015850.2:c.389G>A, XM_017015850.1:c.389G>A, XM_017015851.2:c.389G>A, XM_017015851.1:c.389G>A, NM_001318242.2:c.389G>A, NM_001318242.1:c.389G>A, XM_017015854.2:c.389G>A, XM_017015854.1:c.389G>A, XM_017015852.2:c.389G>A, XM_017015852.1:c.389G>A, XM_017015855.2:c.389G>A, XM_017015855.1:c.389G>A, NM_001318241.2:c.389G>A, NM_001318241.1:c.389G>A, NM_001318243.2:c.389G>A, NM_001318243.1:c.389G>A, XM_017015857.2:c.389G>A, XM_017015857.1:c.389G>A, NR_134531.2:n.755G>A, NR_134531.1:n.797G>A, XM_017015860.2:c.389G>A, XM_017015860.1:c.389G>A, NR_134532.2:n.362G>A, NR_134532.1:n.569G>A, XR_001747058.2:n.755G>A, XR_001747058.1:n.779G>A, XM_017015862.2:c.389G>A, XM_017015862.1:c.389G>A, XM_047424720.1:c.389G>A, XM_047424721.1:c.389G>A, NR_165441.1:n.755G>A, XM_047424722.1:c.389G>A, NP_689923.3:p.Gly130Glu, XP_016871348.1:p.Gly130Glu, XP_016871350.1:p.Gly130Glu, XP_016871334.1:p.Gly130Glu, XP_016871335.1:p.Gly130Glu, XP_016871336.1:p.Gly130Glu, XP_016871345.1:p.Gly130Glu, XP_016871338.1:p.Gly130Glu, XP_016871337.1:p.Gly130Glu, XP_016871347.1:p.Gly130Glu, XP_016871342.1:p.Gly130Glu, XP_016871339.1:p.Gly130Glu, XP_016871340.1:p.Gly130Glu, NP_001305171.1:p.Gly130Glu, XP_016871343.1:p.Gly130Glu, XP_016871341.1:p.Gly130Glu, XP_016871344.1:p.Gly130Glu, NP_001305170.1:p.Gly130Glu, NP_001305172.1:p.Gly130Glu, XP_016871346.1:p.Gly130Glu, XP_016871349.1:p.Gly130Glu, XP_016871351.1:p.Gly130Glu, XP_047280676.1:p.Gly130Glu, XP_047280677.1:p.Gly130Glu, XP_047280678.1:p.Gly130Glu

                                          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...