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Items: 1 to 20 of 597

1.

rs1489362347 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    6:43502310 (GRCh38)
    6:43470048 (GRCh37)
    Canonical SPDI:
    NC_000006.12:43502309:G:T
    Gene:
    TJAP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000006.12:g.43502310G>T, NC_000006.11:g.43470048G>T, XM_006715250.5:c.318G>T, XM_006715250.4:c.318G>T, XM_006715250.3:c.318G>T, XM_006715250.2:c.318G>T, XM_006715250.1:c.318G>T, XM_006715254.5:c.318G>T, XM_006715254.4:c.318G>T, XM_006715254.3:c.318G>T, XM_006715254.2:c.318G>T, XM_006715254.1:c.318G>T, XM_006715251.4:c.318G>T, XM_006715251.3:c.318G>T, XM_006715251.2:c.318G>T, XM_006715251.1:c.318G>T, XM_006715262.3:c.318G>T, XM_006715262.2:c.318G>T, XM_006715262.1:c.318G>T, NM_080604.3:c.318G>T, NM_080604.2:c.318G>T, XM_006715257.3:c.318G>T, XM_006715257.2:c.318G>T, XM_006715257.1:c.318G>T, XM_006715263.3:c.318G>T, XM_006715263.2:c.318G>T, XM_006715263.1:c.318G>T, XM_017011489.2:c.318G>T, XM_017011489.1:c.318G>T, XM_024446586.2:c.318G>T, XM_024446586.1:c.318G>T, XM_024446584.2:c.318G>T, XM_024446584.1:c.318G>T, XM_024446585.2:c.318G>T, XM_024446585.1:c.318G>T, XM_017011492.2:c.318G>T, XM_017011492.1:c.318G>T, XM_017011493.2:c.318G>T, XM_017011493.1:c.318G>T, NM_001350561.2:c.318G>T, NM_001350561.1:c.318G>T, XM_024446587.2:c.318G>T, XM_024446587.1:c.318G>T, XM_011514995.2:c.318G>T, XM_011514995.1:c.318G>T, NR_146793.2:n.644G>T, NR_146793.1:n.691G>T, NM_001350570.2:c.318G>T, NM_001350570.1:c.318G>T, NM_001146018.2:c.318G>T, NM_001146018.1:c.318G>T, NM_001146016.2:c.318G>T, NM_001146016.1:c.318G>T, NM_001350562.2:c.318G>T, NM_001350562.1:c.318G>T, NM_001350567.2:c.318G>T, NM_001350567.1:c.318G>T, NM_001146019.2:c.318G>T, NM_001146019.1:c.318G>T, NM_001350565.2:c.318G>T, NM_001350565.1:c.318G>T, NM_001350569.2:c.318G>T, NM_001350569.1:c.318G>T, NM_001350563.2:c.318G>T, NM_001350563.1:c.318G>T, XM_006715265.2:c.318G>T, XM_006715265.1:c.318G>T, NM_001350568.2:c.318G>T, NM_001350568.1:c.318G>T, NR_027394.2:n.534G>T, NM_001350564.2:c.318G>T, NM_001350564.1:c.318G>T, XM_006715261.2:c.318G>T, XM_006715261.1:c.318G>T, NM_001350566.2:c.318G>T, NM_001350566.1:c.318G>T, NM_001146017.2:c.318G>T, NM_001146017.1:c.318G>T, XM_006715266.2:c.318G>T, XM_006715266.1:c.318G>T, NM_001146020.2:c.318G>T, NM_001146020.1:c.318G>T, XM_047419532.1:c.318G>T, XM_047419531.1:c.318G>T, XM_047419534.1:c.318G>T, XM_047419536.1:c.318G>T, XM_047419538.1:c.318G>T, XM_047419529.1:c.318G>T, XM_047419530.1:c.318G>T, XM_047419542.1:c.318G>T, XM_047419533.1:c.318G>T, XM_047419537.1:c.318G>T, XM_047419540.1:c.318G>T, NM_001394544.1:c.195G>T, XM_047419544.1:c.318G>T, NM_001394543.1:c.195G>T, NM_001394540.1:c.195G>T, NM_001394541.1:c.195G>T, XM_047419541.1:c.318G>T, XM_047419543.1:c.318G>T, NM_001394545.1:c.195G>T, NR_027394.1:n.581G>T, XM_047419535.1:c.318G>T, NM_001394539.1:c.195G>T, NM_001394538.1:c.195G>T, XM_047419545.1:c.318G>T, NM_001394542.1:c.195G>T, XM_047419547.1:c.318G>T, XM_047419548.1:c.318G>T, XM_047419546.1:c.318G>T, XP_006715313.1:p.Gln106His, XP_006715317.1:p.Gln106His, XP_006715314.1:p.Gln106His, XP_006715325.1:p.Gln106His, NP_542171.2:p.Gln106His, XP_006715320.1:p.Gln106His, XP_006715326.1:p.Gln106His, XP_016866978.1:p.Gln106His, XP_024302354.1:p.Gln106His, XP_024302352.1:p.Gln106His, XP_024302353.1:p.Gln106His, XP_016866981.1:p.Gln106His, XP_016866982.1:p.Gln106His, NP_001337490.1:p.Gln106His, XP_024302355.1:p.Gln106His, XP_011513297.1:p.Gln106His, NP_001337499.1:p.Gln106His, NP_001139490.1:p.Gln106His, NP_001139488.1:p.Gln106His, NP_001337491.1:p.Gln106His, NP_001337496.1:p.Gln106His, NP_001139491.1:p.Gln106His, NP_001337494.1:p.Gln106His, NP_001337498.1:p.Gln106His, NP_001337492.1:p.Gln106His, XP_006715328.1:p.Gln106His, NP_001337497.1:p.Gln106His, NP_001337493.1:p.Gln106His, XP_006715324.1:p.Gln106His, NP_001337495.1:p.Gln106His, NP_001139489.1:p.Gln106His, XP_006715329.1:p.Gln106His, NP_001139492.1:p.Gln106His, XP_047275488.1:p.Gln106His, XP_047275487.1:p.Gln106His, XP_047275490.1:p.Gln106His, XP_047275492.1:p.Gln106His, XP_047275494.1:p.Gln106His, XP_047275485.1:p.Gln106His, XP_047275486.1:p.Gln106His, XP_047275498.1:p.Gln106His, XP_047275489.1:p.Gln106His, XP_047275493.1:p.Gln106His, XP_047275496.1:p.Gln106His, NP_001381473.1:p.Gln65His, XP_047275500.1:p.Gln106His, NP_001381472.1:p.Gln65His, NP_001381469.1:p.Gln65His, NP_001381470.1:p.Gln65His, XP_047275497.1:p.Gln106His, XP_047275499.1:p.Gln106His, NP_001381474.1:p.Gln65His, XP_047275491.1:p.Gln106His, NP_001381468.1:p.Gln65His, NP_001381467.1:p.Gln65His, XP_047275501.1:p.Gln106His, NP_001381471.1:p.Gln65His, XP_047275503.1:p.Gln106His, XP_047275504.1:p.Gln106His, XP_047275502.1:p.Gln106His

    2.

    rs1487822032 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      6:43505042 (GRCh38)
      6:43472780 (GRCh37)
      Canonical SPDI:
      NC_000006.12:43505041:C:G
      Gene:
      TJAP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.43505042C>G, NC_000006.11:g.43472780C>G, NG_028283.3:g.341C>G, XM_006715250.5:c.861C>G, XM_006715250.4:c.861C>G, XM_006715250.3:c.861C>G, XM_006715250.2:c.861C>G, XM_006715250.1:c.861C>G, XM_006715254.5:c.861C>G, XM_006715254.4:c.861C>G, XM_006715254.3:c.861C>G, XM_006715254.2:c.861C>G, XM_006715254.1:c.861C>G, XM_006715251.4:c.861C>G, XM_006715251.3:c.861C>G, XM_006715251.2:c.861C>G, XM_006715251.1:c.861C>G, XM_006715262.3:c.861C>G, XM_006715262.2:c.861C>G, XM_006715262.1:c.861C>G, NM_080604.3:c.831C>G, NM_080604.2:c.831C>G, XM_006715257.3:c.861C>G, XM_006715257.2:c.861C>G, XM_006715257.1:c.861C>G, XM_006715263.3:c.861C>G, XM_006715263.2:c.861C>G, XM_006715263.1:c.861C>G, XM_017011489.2:c.861C>G, XM_017011489.1:c.861C>G, XM_024446586.2:c.861C>G, XM_024446586.1:c.861C>G, XM_024446584.2:c.861C>G, XM_024446584.1:c.861C>G, XM_024446585.2:c.861C>G, XM_024446585.1:c.861C>G, XM_017011492.2:c.831C>G, XM_017011492.1:c.831C>G, XM_017011493.2:c.831C>G, XM_017011493.1:c.831C>G, NM_001350561.2:c.861C>G, NM_001350561.1:c.861C>G, XM_024446587.2:c.831C>G, XM_024446587.1:c.831C>G, XM_011514995.2:c.861C>G, XM_011514995.1:c.861C>G, NR_146793.2:n.1237C>G, NR_146793.1:n.1284C>G, NM_001350570.2:c.831C>G, NM_001350570.1:c.831C>G, NM_001146018.2:c.831C>G, NM_001146018.1:c.831C>G, NM_001146016.2:c.861C>G, NM_001146016.1:c.861C>G, NM_001350562.2:c.861C>G, NM_001350562.1:c.861C>G, NM_001350567.2:c.861C>G, NM_001350567.1:c.861C>G, NM_001146019.2:c.831C>G, NM_001146019.1:c.831C>G, NM_001350565.2:c.861C>G, NM_001350565.1:c.861C>G, NM_001350569.2:c.831C>G, NM_001350569.1:c.831C>G, NM_001350563.2:c.861C>G, NM_001350563.1:c.861C>G, XM_006715265.2:c.831C>G, XM_006715265.1:c.831C>G, NM_001350568.2:c.861C>G, NM_001350568.1:c.861C>G, NR_027394.2:n.1077C>G, NM_001350564.2:c.861C>G, NM_001350564.1:c.861C>G, XM_006715261.2:c.861C>G, XM_006715261.1:c.861C>G, NM_001350566.2:c.861C>G, NM_001350566.1:c.861C>G, NM_001146017.2:c.861C>G, NM_001146017.1:c.861C>G, XM_006715266.2:c.831C>G, XM_006715266.1:c.831C>G, NM_001146020.2:c.831C>G, NM_001146020.1:c.831C>G, XM_047419532.1:c.861C>G, XM_047419531.1:c.861C>G, XM_047419534.1:c.831C>G, XM_047419536.1:c.831C>G, XM_047419538.1:c.831C>G, XM_047419529.1:c.861C>G, XM_047419530.1:c.861C>G, XM_047419542.1:c.831C>G, XM_047419533.1:c.861C>G, XM_047419537.1:c.831C>G, XM_047419540.1:c.831C>G, NM_001394544.1:c.708C>G, XM_047419544.1:c.831C>G, NM_001394543.1:c.708C>G, NM_001394540.1:c.708C>G, NM_001394541.1:c.708C>G, XM_047419541.1:c.831C>G, XM_047419543.1:c.831C>G, NM_001394545.1:c.708C>G, NR_027394.1:n.1124C>G, XM_047419535.1:c.831C>G, NM_001394539.1:c.738C>G, NM_001394538.1:c.738C>G, XM_047419545.1:c.831C>G, NM_001394542.1:c.708C>G

      3.

      rs1486838431 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        6:43505342 (GRCh38)
        6:43473080 (GRCh37)
        Canonical SPDI:
        NC_000006.12:43505341:C:A,NC_000006.12:43505341:C:T
        Gene:
        TJAP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_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_000006.12:g.43505342C>A, NC_000006.12:g.43505342C>T, NC_000006.11:g.43473080C>A, NC_000006.11:g.43473080C>T, NG_028283.3:g.641C>A, NG_028283.3:g.641C>T, XM_006715250.5:c.1161C>A, XM_006715250.5:c.1161C>T, XM_006715250.4:c.1161C>A, XM_006715250.4:c.1161C>T, XM_006715250.3:c.1161C>A, XM_006715250.3:c.1161C>T, XM_006715250.2:c.1161C>A, XM_006715250.2:c.1161C>T, XM_006715250.1:c.1161C>A, XM_006715250.1:c.1161C>T, XM_006715254.5:c.1161C>A, XM_006715254.5:c.1161C>T, XM_006715254.4:c.1161C>A, XM_006715254.4:c.1161C>T, XM_006715254.3:c.1161C>A, XM_006715254.3:c.1161C>T, XM_006715254.2:c.1161C>A, XM_006715254.2:c.1161C>T, XM_006715254.1:c.1161C>A, XM_006715254.1:c.1161C>T, XM_006715251.4:c.1161C>A, XM_006715251.4:c.1161C>T, XM_006715251.3:c.1161C>A, XM_006715251.3:c.1161C>T, XM_006715251.2:c.1161C>A, XM_006715251.2:c.1161C>T, XM_006715251.1:c.1161C>A, XM_006715251.1:c.1161C>T, XM_006715262.3:c.1161C>A, XM_006715262.3:c.1161C>T, XM_006715262.2:c.1161C>A, XM_006715262.2:c.1161C>T, XM_006715262.1:c.1161C>A, XM_006715262.1:c.1161C>T, NM_080604.3:c.1131C>A, NM_080604.3:c.1131C>T, NM_080604.2:c.1131C>A, NM_080604.2:c.1131C>T, XM_006715257.3:c.1161C>A, XM_006715257.3:c.1161C>T, XM_006715257.2:c.1161C>A, XM_006715257.2:c.1161C>T, XM_006715257.1:c.1161C>A, XM_006715257.1:c.1161C>T, XM_006715263.3:c.1161C>A, XM_006715263.3:c.1161C>T, XM_006715263.2:c.1161C>A, XM_006715263.2:c.1161C>T, XM_006715263.1:c.1161C>A, XM_006715263.1:c.1161C>T, XM_017011489.2:c.1161C>A, XM_017011489.2:c.1161C>T, XM_017011489.1:c.1161C>A, XM_017011489.1:c.1161C>T, XM_024446586.2:c.1161C>A, XM_024446586.2:c.1161C>T, XM_024446586.1:c.1161C>A, XM_024446586.1:c.1161C>T, XM_024446584.2:c.1161C>A, XM_024446584.2:c.1161C>T, XM_024446584.1:c.1161C>A, XM_024446584.1:c.1161C>T, XM_024446585.2:c.1161C>A, XM_024446585.2:c.1161C>T, XM_024446585.1:c.1161C>A, XM_024446585.1:c.1161C>T, XM_017011492.2:c.1131C>A, XM_017011492.2:c.1131C>T, XM_017011492.1:c.1131C>A, XM_017011492.1:c.1131C>T, XM_017011493.2:c.1131C>A, XM_017011493.2:c.1131C>T, XM_017011493.1:c.1131C>A, XM_017011493.1:c.1131C>T, NM_001350561.2:c.1161C>A, NM_001350561.2:c.1161C>T, NM_001350561.1:c.1161C>A, NM_001350561.1:c.1161C>T, XM_024446587.2:c.1131C>A, XM_024446587.2:c.1131C>T, XM_024446587.1:c.1131C>A, XM_024446587.1:c.1131C>T, XM_011514995.2:c.1161C>A, XM_011514995.2:c.1161C>T, XM_011514995.1:c.1161C>A, XM_011514995.1:c.1161C>T, NR_146793.2:n.1537C>A, NR_146793.2:n.1537C>T, NR_146793.1:n.1584C>A, NR_146793.1:n.1584C>T, NM_001350570.2:c.1131C>A, NM_001350570.2:c.1131C>T, NM_001350570.1:c.1131C>A, NM_001350570.1:c.1131C>T, NM_001146018.2:c.1131C>A, NM_001146018.2:c.1131C>T, NM_001146018.1:c.1131C>A, NM_001146018.1:c.1131C>T, NM_001146016.2:c.1161C>A, NM_001146016.2:c.1161C>T, NM_001146016.1:c.1161C>A, NM_001146016.1:c.1161C>T, NM_001350562.2:c.1161C>A, NM_001350562.2:c.1161C>T, NM_001350562.1:c.1161C>A, NM_001350562.1:c.1161C>T, NM_001350567.2:c.1161C>A, NM_001350567.2:c.1161C>T, NM_001350567.1:c.1161C>A, NM_001350567.1:c.1161C>T, NM_001146019.2:c.1131C>A, NM_001146019.2:c.1131C>T, NM_001146019.1:c.1131C>A, NM_001146019.1:c.1131C>T, NM_001350565.2:c.1161C>A, NM_001350565.2:c.1161C>T, NM_001350565.1:c.1161C>A, NM_001350565.1:c.1161C>T, NM_001350569.2:c.1131C>A, NM_001350569.2:c.1131C>T, NM_001350569.1:c.1131C>A, NM_001350569.1:c.1131C>T, NM_001350563.2:c.1161C>A, NM_001350563.2:c.1161C>T, NM_001350563.1:c.1161C>A, NM_001350563.1:c.1161C>T, XM_006715265.2:c.1131C>A, XM_006715265.2:c.1131C>T, XM_006715265.1:c.1131C>A, XM_006715265.1:c.1131C>T, NM_001350568.2:c.1161C>A, NM_001350568.2:c.1161C>T, NM_001350568.1:c.1161C>A, NM_001350568.1:c.1161C>T, NR_027394.2:n.1377C>A, NR_027394.2:n.1377C>T, NM_001350564.2:c.1161C>A, NM_001350564.2:c.1161C>T, NM_001350564.1:c.1161C>A, NM_001350564.1:c.1161C>T, XM_006715261.2:c.1161C>A, XM_006715261.2:c.1161C>T, XM_006715261.1:c.1161C>A, XM_006715261.1:c.1161C>T, NM_001350566.2:c.1161C>A, NM_001350566.2:c.1161C>T, NM_001350566.1:c.1161C>A, NM_001350566.1:c.1161C>T, NM_001146017.2:c.1161C>A, NM_001146017.2:c.1161C>T, NM_001146017.1:c.1161C>A, NM_001146017.1:c.1161C>T, XM_006715266.2:c.1131C>A, XM_006715266.2:c.1131C>T, XM_006715266.1:c.1131C>A, XM_006715266.1:c.1131C>T, NM_001146020.2:c.1131C>A, NM_001146020.2:c.1131C>T, NM_001146020.1:c.1131C>A, NM_001146020.1:c.1131C>T, XM_047419532.1:c.1161C>A, XM_047419532.1:c.1161C>T, XM_047419531.1:c.1161C>A, XM_047419531.1:c.1161C>T, XM_047419534.1:c.1131C>A, XM_047419534.1:c.1131C>T, XM_047419536.1:c.1131C>A, XM_047419536.1:c.1131C>T, XM_047419538.1:c.1131C>A, XM_047419538.1:c.1131C>T, XM_047419529.1:c.1161C>A, XM_047419529.1:c.1161C>T, XM_047419530.1:c.1161C>A, XM_047419530.1:c.1161C>T, XM_047419542.1:c.1131C>A, XM_047419542.1:c.1131C>T, XM_047419533.1:c.1161C>A, XM_047419533.1:c.1161C>T, XM_047419537.1:c.1131C>A, XM_047419537.1:c.1131C>T, XM_047419540.1:c.1131C>A, XM_047419540.1:c.1131C>T, NM_001394544.1:c.1008C>A, NM_001394544.1:c.1008C>T, XM_047419544.1:c.1131C>A, XM_047419544.1:c.1131C>T, NM_001394543.1:c.1008C>A, NM_001394543.1:c.1008C>T, NM_001394540.1:c.1008C>A, NM_001394540.1:c.1008C>T, NM_001394541.1:c.1008C>A, NM_001394541.1:c.1008C>T, XM_047419541.1:c.1131C>A, XM_047419541.1:c.1131C>T, XM_047419543.1:c.1131C>A, XM_047419543.1:c.1131C>T, NM_001394545.1:c.1008C>A, NM_001394545.1:c.1008C>T, NR_027394.1:n.1424C>A, NR_027394.1:n.1424C>T, XM_047419535.1:c.1131C>A, XM_047419535.1:c.1131C>T, NM_001394539.1:c.1038C>A, NM_001394539.1:c.1038C>T, NM_001394538.1:c.1038C>A, NM_001394538.1:c.1038C>T, XM_047419545.1:c.1131C>A, XM_047419545.1:c.1131C>T, NM_001394542.1:c.1008C>A, NM_001394542.1:c.1008C>T, XP_006715313.1:p.His387Gln, XP_006715317.1:p.His387Gln, XP_006715314.1:p.His387Gln, XP_006715325.1:p.His387Gln, NP_542171.2:p.His377Gln, XP_006715320.1:p.His387Gln, XP_006715326.1:p.His387Gln, XP_016866978.1:p.His387Gln, XP_024302354.1:p.His387Gln, XP_024302352.1:p.His387Gln, XP_024302353.1:p.His387Gln, XP_016866981.1:p.His377Gln, XP_016866982.1:p.His377Gln, NP_001337490.1:p.His387Gln, XP_024302355.1:p.His377Gln, XP_011513297.1:p.His387Gln, NP_001337499.1:p.His377Gln, NP_001139490.1:p.His377Gln, NP_001139488.1:p.His387Gln, NP_001337491.1:p.His387Gln, NP_001337496.1:p.His387Gln, NP_001139491.1:p.His377Gln, NP_001337494.1:p.His387Gln, NP_001337498.1:p.His377Gln, NP_001337492.1:p.His387Gln, XP_006715328.1:p.His377Gln, NP_001337497.1:p.His387Gln, NP_001337493.1:p.His387Gln, XP_006715324.1:p.His387Gln, NP_001337495.1:p.His387Gln, NP_001139489.1:p.His387Gln, XP_006715329.1:p.His377Gln, NP_001139492.1:p.His377Gln, XP_047275488.1:p.His387Gln, XP_047275487.1:p.His387Gln, XP_047275490.1:p.His377Gln, XP_047275492.1:p.His377Gln, XP_047275494.1:p.His377Gln, XP_047275485.1:p.His387Gln, XP_047275486.1:p.His387Gln, XP_047275498.1:p.His377Gln, XP_047275489.1:p.His387Gln, XP_047275493.1:p.His377Gln, XP_047275496.1:p.His377Gln, NP_001381473.1:p.His336Gln, XP_047275500.1:p.His377Gln, NP_001381472.1:p.His336Gln, NP_001381469.1:p.His336Gln, NP_001381470.1:p.His336Gln, XP_047275497.1:p.His377Gln, XP_047275499.1:p.His377Gln, NP_001381474.1:p.His336Gln, XP_047275491.1:p.His377Gln, NP_001381468.1:p.His346Gln, NP_001381467.1:p.His346Gln, XP_047275501.1:p.His377Gln, NP_001381471.1:p.His336Gln

        4.

        rs1485858098 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          6:43505615 (GRCh38)
          6:43473353 (GRCh37)
          Canonical SPDI:
          NC_000006.12:43505614:C:G
          Gene:
          TJAP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000006.12:g.43505615C>G, NC_000006.11:g.43473353C>G, NG_028283.3:g.914C>G, XM_006715250.5:c.1434C>G, XM_006715250.4:c.1434C>G, XM_006715250.3:c.1434C>G, XM_006715250.2:c.1434C>G, XM_006715250.1:c.1434C>G, XM_006715254.5:c.1434C>G, XM_006715254.4:c.1434C>G, XM_006715254.3:c.1434C>G, XM_006715254.2:c.1434C>G, XM_006715254.1:c.1434C>G, XM_006715251.4:c.1434C>G, XM_006715251.3:c.1434C>G, XM_006715251.2:c.1434C>G, XM_006715251.1:c.1434C>G, XM_006715262.3:c.1434C>G, XM_006715262.2:c.1434C>G, XM_006715262.1:c.1434C>G, NM_080604.3:c.1404C>G, NM_080604.2:c.1404C>G, XM_006715257.3:c.1434C>G, XM_006715257.2:c.1434C>G, XM_006715257.1:c.1434C>G, XM_006715263.3:c.1434C>G, XM_006715263.2:c.1434C>G, XM_006715263.1:c.1434C>G, XM_017011489.2:c.1434C>G, XM_017011489.1:c.1434C>G, XM_024446586.2:c.1434C>G, XM_024446586.1:c.1434C>G, XM_024446584.2:c.1434C>G, XM_024446584.1:c.1434C>G, XM_024446585.2:c.1434C>G, XM_024446585.1:c.1434C>G, XM_017011492.2:c.1404C>G, XM_017011492.1:c.1404C>G, XM_017011493.2:c.1404C>G, XM_017011493.1:c.1404C>G, NM_001350561.2:c.1434C>G, NM_001350561.1:c.1434C>G, XM_024446587.2:c.1404C>G, XM_024446587.1:c.1404C>G, XM_011514995.2:c.1434C>G, XM_011514995.1:c.1434C>G, NR_146793.2:n.1810C>G, NR_146793.1:n.1857C>G, NM_001350570.2:c.1404C>G, NM_001350570.1:c.1404C>G, NM_001146018.2:c.1404C>G, NM_001146018.1:c.1404C>G, NM_001146016.2:c.1434C>G, NM_001146016.1:c.1434C>G, NM_001350562.2:c.1434C>G, NM_001350562.1:c.1434C>G, NM_001350567.2:c.1434C>G, NM_001350567.1:c.1434C>G, NM_001146019.2:c.1404C>G, NM_001146019.1:c.1404C>G, NM_001350565.2:c.1434C>G, NM_001350565.1:c.1434C>G, NM_001350569.2:c.1404C>G, NM_001350569.1:c.1404C>G, NM_001350563.2:c.1434C>G, NM_001350563.1:c.1434C>G, XM_006715265.2:c.1404C>G, XM_006715265.1:c.1404C>G, NM_001350568.2:c.1434C>G, NM_001350568.1:c.1434C>G, NR_027394.2:n.1650C>G, NM_001350564.2:c.1434C>G, NM_001350564.1:c.1434C>G, XM_006715261.2:c.1434C>G, XM_006715261.1:c.1434C>G, NM_001350566.2:c.1434C>G, NM_001350566.1:c.1434C>G, NM_001146017.2:c.1434C>G, NM_001146017.1:c.1434C>G, XM_006715266.2:c.1404C>G, XM_006715266.1:c.1404C>G, NM_001146020.2:c.1404C>G, NM_001146020.1:c.1404C>G, XM_047419532.1:c.1434C>G, XM_047419531.1:c.1434C>G, XM_047419534.1:c.1404C>G, XM_047419536.1:c.1404C>G, XM_047419538.1:c.1404C>G, XM_047419529.1:c.1434C>G, XM_047419530.1:c.1434C>G, XM_047419542.1:c.1404C>G, XM_047419533.1:c.1434C>G, XM_047419537.1:c.1404C>G, XM_047419540.1:c.1404C>G, NM_001394544.1:c.1281C>G, XM_047419544.1:c.1404C>G, NM_001394543.1:c.1281C>G, NM_001394540.1:c.1281C>G, NM_001394541.1:c.1281C>G, XM_047419541.1:c.1404C>G, XM_047419543.1:c.1404C>G, NM_001394545.1:c.1281C>G, NR_027394.1:n.1697C>G, XM_047419535.1:c.1404C>G, NM_001394539.1:c.1311C>G, NM_001394538.1:c.1311C>G, XM_047419545.1:c.1404C>G, NM_001394542.1:c.1281C>G

          5.

          rs1485499527 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:43505035 (GRCh38)
            6:43472773 (GRCh37)
            Canonical SPDI:
            NC_000006.12:43505034:C:T
            Gene:
            TJAP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0./0 (GnomAD)
            HGVS:
            NC_000006.12:g.43505035C>T, NC_000006.11:g.43472773C>T, NG_028283.3:g.334C>T, XM_006715250.5:c.854C>T, XM_006715250.4:c.854C>T, XM_006715250.3:c.854C>T, XM_006715250.2:c.854C>T, XM_006715250.1:c.854C>T, XM_006715254.5:c.854C>T, XM_006715254.4:c.854C>T, XM_006715254.3:c.854C>T, XM_006715254.2:c.854C>T, XM_006715254.1:c.854C>T, XM_006715251.4:c.854C>T, XM_006715251.3:c.854C>T, XM_006715251.2:c.854C>T, XM_006715251.1:c.854C>T, XM_006715262.3:c.854C>T, XM_006715262.2:c.854C>T, XM_006715262.1:c.854C>T, NM_080604.3:c.824C>T, NM_080604.2:c.824C>T, XM_006715257.3:c.854C>T, XM_006715257.2:c.854C>T, XM_006715257.1:c.854C>T, XM_006715263.3:c.854C>T, XM_006715263.2:c.854C>T, XM_006715263.1:c.854C>T, XM_017011489.2:c.854C>T, XM_017011489.1:c.854C>T, XM_024446586.2:c.854C>T, XM_024446586.1:c.854C>T, XM_024446584.2:c.854C>T, XM_024446584.1:c.854C>T, XM_024446585.2:c.854C>T, XM_024446585.1:c.854C>T, XM_017011492.2:c.824C>T, XM_017011492.1:c.824C>T, XM_017011493.2:c.824C>T, XM_017011493.1:c.824C>T, NM_001350561.2:c.854C>T, NM_001350561.1:c.854C>T, XM_024446587.2:c.824C>T, XM_024446587.1:c.824C>T, XM_011514995.2:c.854C>T, XM_011514995.1:c.854C>T, NR_146793.2:n.1230C>T, NR_146793.1:n.1277C>T, NM_001350570.2:c.824C>T, NM_001350570.1:c.824C>T, NM_001146018.2:c.824C>T, NM_001146018.1:c.824C>T, NM_001146016.2:c.854C>T, NM_001146016.1:c.854C>T, NM_001350562.2:c.854C>T, NM_001350562.1:c.854C>T, NM_001350567.2:c.854C>T, NM_001350567.1:c.854C>T, NM_001146019.2:c.824C>T, NM_001146019.1:c.824C>T, NM_001350565.2:c.854C>T, NM_001350565.1:c.854C>T, NM_001350569.2:c.824C>T, NM_001350569.1:c.824C>T, NM_001350563.2:c.854C>T, NM_001350563.1:c.854C>T, XM_006715265.2:c.824C>T, XM_006715265.1:c.824C>T, NM_001350568.2:c.854C>T, NM_001350568.1:c.854C>T, NR_027394.2:n.1070C>T, NM_001350564.2:c.854C>T, NM_001350564.1:c.854C>T, XM_006715261.2:c.854C>T, XM_006715261.1:c.854C>T, NM_001350566.2:c.854C>T, NM_001350566.1:c.854C>T, NM_001146017.2:c.854C>T, NM_001146017.1:c.854C>T, XM_006715266.2:c.824C>T, XM_006715266.1:c.824C>T, NM_001146020.2:c.824C>T, NM_001146020.1:c.824C>T, XM_047419532.1:c.854C>T, XM_047419531.1:c.854C>T, XM_047419534.1:c.824C>T, XM_047419536.1:c.824C>T, XM_047419538.1:c.824C>T, XM_047419529.1:c.854C>T, XM_047419530.1:c.854C>T, XM_047419542.1:c.824C>T, XM_047419533.1:c.854C>T, XM_047419537.1:c.824C>T, XM_047419540.1:c.824C>T, NM_001394544.1:c.701C>T, XM_047419544.1:c.824C>T, NM_001394543.1:c.701C>T, NM_001394540.1:c.701C>T, NM_001394541.1:c.701C>T, XM_047419541.1:c.824C>T, XM_047419543.1:c.824C>T, NM_001394545.1:c.701C>T, NR_027394.1:n.1117C>T, XM_047419535.1:c.824C>T, NM_001394539.1:c.731C>T, NM_001394538.1:c.731C>T, XM_047419545.1:c.824C>T, NM_001394542.1:c.701C>T, XP_006715313.1:p.Pro285Leu, XP_006715317.1:p.Pro285Leu, XP_006715314.1:p.Pro285Leu, XP_006715325.1:p.Pro285Leu, NP_542171.2:p.Pro275Leu, XP_006715320.1:p.Pro285Leu, XP_006715326.1:p.Pro285Leu, XP_016866978.1:p.Pro285Leu, XP_024302354.1:p.Pro285Leu, XP_024302352.1:p.Pro285Leu, XP_024302353.1:p.Pro285Leu, XP_016866981.1:p.Pro275Leu, XP_016866982.1:p.Pro275Leu, NP_001337490.1:p.Pro285Leu, XP_024302355.1:p.Pro275Leu, XP_011513297.1:p.Pro285Leu, NP_001337499.1:p.Pro275Leu, NP_001139490.1:p.Pro275Leu, NP_001139488.1:p.Pro285Leu, NP_001337491.1:p.Pro285Leu, NP_001337496.1:p.Pro285Leu, NP_001139491.1:p.Pro275Leu, NP_001337494.1:p.Pro285Leu, NP_001337498.1:p.Pro275Leu, NP_001337492.1:p.Pro285Leu, XP_006715328.1:p.Pro275Leu, NP_001337497.1:p.Pro285Leu, NP_001337493.1:p.Pro285Leu, XP_006715324.1:p.Pro285Leu, NP_001337495.1:p.Pro285Leu, NP_001139489.1:p.Pro285Leu, XP_006715329.1:p.Pro275Leu, NP_001139492.1:p.Pro275Leu, XP_047275488.1:p.Pro285Leu, XP_047275487.1:p.Pro285Leu, XP_047275490.1:p.Pro275Leu, XP_047275492.1:p.Pro275Leu, XP_047275494.1:p.Pro275Leu, XP_047275485.1:p.Pro285Leu, XP_047275486.1:p.Pro285Leu, XP_047275498.1:p.Pro275Leu, XP_047275489.1:p.Pro285Leu, XP_047275493.1:p.Pro275Leu, XP_047275496.1:p.Pro275Leu, NP_001381473.1:p.Pro234Leu, XP_047275500.1:p.Pro275Leu, NP_001381472.1:p.Pro234Leu, NP_001381469.1:p.Pro234Leu, NP_001381470.1:p.Pro234Leu, XP_047275497.1:p.Pro275Leu, XP_047275499.1:p.Pro275Leu, NP_001381474.1:p.Pro234Leu, XP_047275491.1:p.Pro275Leu, NP_001381468.1:p.Pro244Leu, NP_001381467.1:p.Pro244Leu, XP_047275501.1:p.Pro275Leu, NP_001381471.1:p.Pro234Leu

            6.

            rs1482100115 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:43504947 (GRCh38)
              6:43472685 (GRCh37)
              Canonical SPDI:
              NC_000006.12:43504946:T:A
              Gene:
              TJAP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_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_000006.12:g.43504947T>A, NC_000006.11:g.43472685T>A, NG_028283.3:g.246T>A, XM_006715250.5:c.766T>A, XM_006715250.4:c.766T>A, XM_006715250.3:c.766T>A, XM_006715250.2:c.766T>A, XM_006715250.1:c.766T>A, XM_006715254.5:c.766T>A, XM_006715254.4:c.766T>A, XM_006715254.3:c.766T>A, XM_006715254.2:c.766T>A, XM_006715254.1:c.766T>A, XM_006715251.4:c.766T>A, XM_006715251.3:c.766T>A, XM_006715251.2:c.766T>A, XM_006715251.1:c.766T>A, XM_006715262.3:c.766T>A, XM_006715262.2:c.766T>A, XM_006715262.1:c.766T>A, NM_080604.3:c.736T>A, NM_080604.2:c.736T>A, XM_006715257.3:c.766T>A, XM_006715257.2:c.766T>A, XM_006715257.1:c.766T>A, XM_006715263.3:c.766T>A, XM_006715263.2:c.766T>A, XM_006715263.1:c.766T>A, XM_017011489.2:c.766T>A, XM_017011489.1:c.766T>A, XM_024446586.2:c.766T>A, XM_024446586.1:c.766T>A, XM_024446584.2:c.766T>A, XM_024446584.1:c.766T>A, XM_024446585.2:c.766T>A, XM_024446585.1:c.766T>A, XM_017011492.2:c.736T>A, XM_017011492.1:c.736T>A, XM_017011493.2:c.736T>A, XM_017011493.1:c.736T>A, NM_001350561.2:c.766T>A, NM_001350561.1:c.766T>A, XM_024446587.2:c.736T>A, XM_024446587.1:c.736T>A, XM_011514995.2:c.766T>A, XM_011514995.1:c.766T>A, NR_146793.2:n.1142T>A, NR_146793.1:n.1189T>A, NM_001350570.2:c.736T>A, NM_001350570.1:c.736T>A, NM_001146018.2:c.736T>A, NM_001146018.1:c.736T>A, NM_001146016.2:c.766T>A, NM_001146016.1:c.766T>A, NM_001350562.2:c.766T>A, NM_001350562.1:c.766T>A, NM_001350567.2:c.766T>A, NM_001350567.1:c.766T>A, NM_001146019.2:c.736T>A, NM_001146019.1:c.736T>A, NM_001350565.2:c.766T>A, NM_001350565.1:c.766T>A, NM_001350569.2:c.736T>A, NM_001350569.1:c.736T>A, NM_001350563.2:c.766T>A, NM_001350563.1:c.766T>A, XM_006715265.2:c.736T>A, XM_006715265.1:c.736T>A, NM_001350568.2:c.766T>A, NM_001350568.1:c.766T>A, NR_027394.2:n.982T>A, NM_001350564.2:c.766T>A, NM_001350564.1:c.766T>A, XM_006715261.2:c.766T>A, XM_006715261.1:c.766T>A, NM_001350566.2:c.766T>A, NM_001350566.1:c.766T>A, NM_001146017.2:c.766T>A, NM_001146017.1:c.766T>A, XM_006715266.2:c.736T>A, XM_006715266.1:c.736T>A, NM_001146020.2:c.736T>A, NM_001146020.1:c.736T>A, XM_047419532.1:c.766T>A, XM_047419531.1:c.766T>A, XM_047419534.1:c.736T>A, XM_047419536.1:c.736T>A, XM_047419538.1:c.736T>A, XM_047419529.1:c.766T>A, XM_047419530.1:c.766T>A, XM_047419542.1:c.736T>A, XM_047419533.1:c.766T>A, XM_047419537.1:c.736T>A, XM_047419540.1:c.736T>A, NM_001394544.1:c.613T>A, XM_047419544.1:c.736T>A, NM_001394543.1:c.613T>A, NM_001394540.1:c.613T>A, NM_001394541.1:c.613T>A, XM_047419541.1:c.736T>A, XM_047419543.1:c.736T>A, NM_001394545.1:c.613T>A, NR_027394.1:n.1029T>A, XM_047419535.1:c.736T>A, NM_001394539.1:c.643T>A, NM_001394538.1:c.643T>A, XM_047419545.1:c.736T>A, NM_001394542.1:c.613T>A, XP_006715313.1:p.Leu256Met, XP_006715317.1:p.Leu256Met, XP_006715314.1:p.Leu256Met, XP_006715325.1:p.Leu256Met, NP_542171.2:p.Leu246Met, XP_006715320.1:p.Leu256Met, XP_006715326.1:p.Leu256Met, XP_016866978.1:p.Leu256Met, XP_024302354.1:p.Leu256Met, XP_024302352.1:p.Leu256Met, XP_024302353.1:p.Leu256Met, XP_016866981.1:p.Leu246Met, XP_016866982.1:p.Leu246Met, NP_001337490.1:p.Leu256Met, XP_024302355.1:p.Leu246Met, XP_011513297.1:p.Leu256Met, NP_001337499.1:p.Leu246Met, NP_001139490.1:p.Leu246Met, NP_001139488.1:p.Leu256Met, NP_001337491.1:p.Leu256Met, NP_001337496.1:p.Leu256Met, NP_001139491.1:p.Leu246Met, NP_001337494.1:p.Leu256Met, NP_001337498.1:p.Leu246Met, NP_001337492.1:p.Leu256Met, XP_006715328.1:p.Leu246Met, NP_001337497.1:p.Leu256Met, NP_001337493.1:p.Leu256Met, XP_006715324.1:p.Leu256Met, NP_001337495.1:p.Leu256Met, NP_001139489.1:p.Leu256Met, XP_006715329.1:p.Leu246Met, NP_001139492.1:p.Leu246Met, XP_047275488.1:p.Leu256Met, XP_047275487.1:p.Leu256Met, XP_047275490.1:p.Leu246Met, XP_047275492.1:p.Leu246Met, XP_047275494.1:p.Leu246Met, XP_047275485.1:p.Leu256Met, XP_047275486.1:p.Leu256Met, XP_047275498.1:p.Leu246Met, XP_047275489.1:p.Leu256Met, XP_047275493.1:p.Leu246Met, XP_047275496.1:p.Leu246Met, NP_001381473.1:p.Leu205Met, XP_047275500.1:p.Leu246Met, NP_001381472.1:p.Leu205Met, NP_001381469.1:p.Leu205Met, NP_001381470.1:p.Leu205Met, XP_047275497.1:p.Leu246Met, XP_047275499.1:p.Leu246Met, NP_001381474.1:p.Leu205Met, XP_047275491.1:p.Leu246Met, NP_001381468.1:p.Leu215Met, NP_001381467.1:p.Leu215Met, XP_047275501.1:p.Leu246Met, NP_001381471.1:p.Leu205Met

              7.

              rs1481498392 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:43505541 (GRCh38)
                6:43473279 (GRCh37)
                Canonical SPDI:
                NC_000006.12:43505540:G:A
                Gene:
                TJAP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.43505541G>A, NC_000006.11:g.43473279G>A, NG_028283.3:g.840G>A, XM_006715250.5:c.1360G>A, XM_006715250.4:c.1360G>A, XM_006715250.3:c.1360G>A, XM_006715250.2:c.1360G>A, XM_006715250.1:c.1360G>A, XM_006715254.5:c.1360G>A, XM_006715254.4:c.1360G>A, XM_006715254.3:c.1360G>A, XM_006715254.2:c.1360G>A, XM_006715254.1:c.1360G>A, XM_006715251.4:c.1360G>A, XM_006715251.3:c.1360G>A, XM_006715251.2:c.1360G>A, XM_006715251.1:c.1360G>A, XM_006715262.3:c.1360G>A, XM_006715262.2:c.1360G>A, XM_006715262.1:c.1360G>A, NM_080604.3:c.1330G>A, NM_080604.2:c.1330G>A, XM_006715257.3:c.1360G>A, XM_006715257.2:c.1360G>A, XM_006715257.1:c.1360G>A, XM_006715263.3:c.1360G>A, XM_006715263.2:c.1360G>A, XM_006715263.1:c.1360G>A, XM_017011489.2:c.1360G>A, XM_017011489.1:c.1360G>A, XM_024446586.2:c.1360G>A, XM_024446586.1:c.1360G>A, XM_024446584.2:c.1360G>A, XM_024446584.1:c.1360G>A, XM_024446585.2:c.1360G>A, XM_024446585.1:c.1360G>A, XM_017011492.2:c.1330G>A, XM_017011492.1:c.1330G>A, XM_017011493.2:c.1330G>A, XM_017011493.1:c.1330G>A, NM_001350561.2:c.1360G>A, NM_001350561.1:c.1360G>A, XM_024446587.2:c.1330G>A, XM_024446587.1:c.1330G>A, XM_011514995.2:c.1360G>A, XM_011514995.1:c.1360G>A, NR_146793.2:n.1736G>A, NR_146793.1:n.1783G>A, NM_001350570.2:c.1330G>A, NM_001350570.1:c.1330G>A, NM_001146018.2:c.1330G>A, NM_001146018.1:c.1330G>A, NM_001146016.2:c.1360G>A, NM_001146016.1:c.1360G>A, NM_001350562.2:c.1360G>A, NM_001350562.1:c.1360G>A, NM_001350567.2:c.1360G>A, NM_001350567.1:c.1360G>A, NM_001146019.2:c.1330G>A, NM_001146019.1:c.1330G>A, NM_001350565.2:c.1360G>A, NM_001350565.1:c.1360G>A, NM_001350569.2:c.1330G>A, NM_001350569.1:c.1330G>A, NM_001350563.2:c.1360G>A, NM_001350563.1:c.1360G>A, XM_006715265.2:c.1330G>A, XM_006715265.1:c.1330G>A, NM_001350568.2:c.1360G>A, NM_001350568.1:c.1360G>A, NR_027394.2:n.1576G>A, NM_001350564.2:c.1360G>A, NM_001350564.1:c.1360G>A, XM_006715261.2:c.1360G>A, XM_006715261.1:c.1360G>A, NM_001350566.2:c.1360G>A, NM_001350566.1:c.1360G>A, NM_001146017.2:c.1360G>A, NM_001146017.1:c.1360G>A, XM_006715266.2:c.1330G>A, XM_006715266.1:c.1330G>A, NM_001146020.2:c.1330G>A, NM_001146020.1:c.1330G>A, XM_047419532.1:c.1360G>A, XM_047419531.1:c.1360G>A, XM_047419534.1:c.1330G>A, XM_047419536.1:c.1330G>A, XM_047419538.1:c.1330G>A, XM_047419529.1:c.1360G>A, XM_047419530.1:c.1360G>A, XM_047419542.1:c.1330G>A, XM_047419533.1:c.1360G>A, XM_047419537.1:c.1330G>A, XM_047419540.1:c.1330G>A, NM_001394544.1:c.1207G>A, XM_047419544.1:c.1330G>A, NM_001394543.1:c.1207G>A, NM_001394540.1:c.1207G>A, NM_001394541.1:c.1207G>A, XM_047419541.1:c.1330G>A, XM_047419543.1:c.1330G>A, NM_001394545.1:c.1207G>A, NR_027394.1:n.1623G>A, XM_047419535.1:c.1330G>A, NM_001394539.1:c.1237G>A, NM_001394538.1:c.1237G>A, XM_047419545.1:c.1330G>A, NM_001394542.1:c.1207G>A, XP_006715313.1:p.Asp454Asn, XP_006715317.1:p.Asp454Asn, XP_006715314.1:p.Asp454Asn, XP_006715325.1:p.Asp454Asn, NP_542171.2:p.Asp444Asn, XP_006715320.1:p.Asp454Asn, XP_006715326.1:p.Asp454Asn, XP_016866978.1:p.Asp454Asn, XP_024302354.1:p.Asp454Asn, XP_024302352.1:p.Asp454Asn, XP_024302353.1:p.Asp454Asn, XP_016866981.1:p.Asp444Asn, XP_016866982.1:p.Asp444Asn, NP_001337490.1:p.Asp454Asn, XP_024302355.1:p.Asp444Asn, XP_011513297.1:p.Asp454Asn, NP_001337499.1:p.Asp444Asn, NP_001139490.1:p.Asp444Asn, NP_001139488.1:p.Asp454Asn, NP_001337491.1:p.Asp454Asn, NP_001337496.1:p.Asp454Asn, NP_001139491.1:p.Asp444Asn, NP_001337494.1:p.Asp454Asn, NP_001337498.1:p.Asp444Asn, NP_001337492.1:p.Asp454Asn, XP_006715328.1:p.Asp444Asn, NP_001337497.1:p.Asp454Asn, NP_001337493.1:p.Asp454Asn, XP_006715324.1:p.Asp454Asn, NP_001337495.1:p.Asp454Asn, NP_001139489.1:p.Asp454Asn, XP_006715329.1:p.Asp444Asn, NP_001139492.1:p.Asp444Asn, XP_047275488.1:p.Asp454Asn, XP_047275487.1:p.Asp454Asn, XP_047275490.1:p.Asp444Asn, XP_047275492.1:p.Asp444Asn, XP_047275494.1:p.Asp444Asn, XP_047275485.1:p.Asp454Asn, XP_047275486.1:p.Asp454Asn, XP_047275498.1:p.Asp444Asn, XP_047275489.1:p.Asp454Asn, XP_047275493.1:p.Asp444Asn, XP_047275496.1:p.Asp444Asn, NP_001381473.1:p.Asp403Asn, XP_047275500.1:p.Asp444Asn, NP_001381472.1:p.Asp403Asn, NP_001381469.1:p.Asp403Asn, NP_001381470.1:p.Asp403Asn, XP_047275497.1:p.Asp444Asn, XP_047275499.1:p.Asp444Asn, NP_001381474.1:p.Asp403Asn, XP_047275491.1:p.Asp444Asn, NP_001381468.1:p.Asp413Asn, NP_001381467.1:p.Asp413Asn, XP_047275501.1:p.Asp444Asn, NP_001381471.1:p.Asp403Asn

                8.

                rs1476998644 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  6:43504978 (GRCh38)
                  6:43472716 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:43504977:T:C,NC_000006.12:43504977:T:G
                  Gene:
                  TJAP1 (Varview)
                  Functional Consequence:
                  missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000028/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000006.12:g.43504978T>C, NC_000006.12:g.43504978T>G, NC_000006.11:g.43472716T>C, NC_000006.11:g.43472716T>G, NG_028283.3:g.277T>C, NG_028283.3:g.277T>G, XM_006715250.5:c.797T>C, XM_006715250.5:c.797T>G, XM_006715250.4:c.797T>C, XM_006715250.4:c.797T>G, XM_006715250.3:c.797T>C, XM_006715250.3:c.797T>G, XM_006715250.2:c.797T>C, XM_006715250.2:c.797T>G, XM_006715250.1:c.797T>C, XM_006715250.1:c.797T>G, XM_006715254.5:c.797T>C, XM_006715254.5:c.797T>G, XM_006715254.4:c.797T>C, XM_006715254.4:c.797T>G, XM_006715254.3:c.797T>C, XM_006715254.3:c.797T>G, XM_006715254.2:c.797T>C, XM_006715254.2:c.797T>G, XM_006715254.1:c.797T>C, XM_006715254.1:c.797T>G, XM_006715251.4:c.797T>C, XM_006715251.4:c.797T>G, XM_006715251.3:c.797T>C, XM_006715251.3:c.797T>G, XM_006715251.2:c.797T>C, XM_006715251.2:c.797T>G, XM_006715251.1:c.797T>C, XM_006715251.1:c.797T>G, XM_006715262.3:c.797T>C, XM_006715262.3:c.797T>G, XM_006715262.2:c.797T>C, XM_006715262.2:c.797T>G, XM_006715262.1:c.797T>C, XM_006715262.1:c.797T>G, NM_080604.3:c.767T>C, NM_080604.3:c.767T>G, NM_080604.2:c.767T>C, NM_080604.2:c.767T>G, XM_006715257.3:c.797T>C, XM_006715257.3:c.797T>G, XM_006715257.2:c.797T>C, XM_006715257.2:c.797T>G, XM_006715257.1:c.797T>C, XM_006715257.1:c.797T>G, XM_006715263.3:c.797T>C, XM_006715263.3:c.797T>G, XM_006715263.2:c.797T>C, XM_006715263.2:c.797T>G, XM_006715263.1:c.797T>C, XM_006715263.1:c.797T>G, XM_017011489.2:c.797T>C, XM_017011489.2:c.797T>G, XM_017011489.1:c.797T>C, XM_017011489.1:c.797T>G, XM_024446586.2:c.797T>C, XM_024446586.2:c.797T>G, XM_024446586.1:c.797T>C, XM_024446586.1:c.797T>G, XM_024446584.2:c.797T>C, XM_024446584.2:c.797T>G, XM_024446584.1:c.797T>C, XM_024446584.1:c.797T>G, XM_024446585.2:c.797T>C, XM_024446585.2:c.797T>G, XM_024446585.1:c.797T>C, XM_024446585.1:c.797T>G, XM_017011492.2:c.767T>C, XM_017011492.2:c.767T>G, XM_017011492.1:c.767T>C, XM_017011492.1:c.767T>G, XM_017011493.2:c.767T>C, XM_017011493.2:c.767T>G, XM_017011493.1:c.767T>C, XM_017011493.1:c.767T>G, NM_001350561.2:c.797T>C, NM_001350561.2:c.797T>G, NM_001350561.1:c.797T>C, NM_001350561.1:c.797T>G, XM_024446587.2:c.767T>C, XM_024446587.2:c.767T>G, XM_024446587.1:c.767T>C, XM_024446587.1:c.767T>G, XM_011514995.2:c.797T>C, XM_011514995.2:c.797T>G, XM_011514995.1:c.797T>C, XM_011514995.1:c.797T>G, NR_146793.2:n.1173T>C, NR_146793.2:n.1173T>G, NR_146793.1:n.1220T>C, NR_146793.1:n.1220T>G, NM_001350570.2:c.767T>C, NM_001350570.2:c.767T>G, NM_001350570.1:c.767T>C, NM_001350570.1:c.767T>G, NM_001146018.2:c.767T>C, NM_001146018.2:c.767T>G, NM_001146018.1:c.767T>C, NM_001146018.1:c.767T>G, NM_001146016.2:c.797T>C, NM_001146016.2:c.797T>G, NM_001146016.1:c.797T>C, NM_001146016.1:c.797T>G, NM_001350562.2:c.797T>C, NM_001350562.2:c.797T>G, NM_001350562.1:c.797T>C, NM_001350562.1:c.797T>G, NM_001350567.2:c.797T>C, NM_001350567.2:c.797T>G, NM_001350567.1:c.797T>C, NM_001350567.1:c.797T>G, NM_001146019.2:c.767T>C, NM_001146019.2:c.767T>G, NM_001146019.1:c.767T>C, NM_001146019.1:c.767T>G, NM_001350565.2:c.797T>C, NM_001350565.2:c.797T>G, NM_001350565.1:c.797T>C, NM_001350565.1:c.797T>G, NM_001350569.2:c.767T>C, NM_001350569.2:c.767T>G, NM_001350569.1:c.767T>C, NM_001350569.1:c.767T>G, NM_001350563.2:c.797T>C, NM_001350563.2:c.797T>G, NM_001350563.1:c.797T>C, NM_001350563.1:c.797T>G, XM_006715265.2:c.767T>C, XM_006715265.2:c.767T>G, XM_006715265.1:c.767T>C, XM_006715265.1:c.767T>G, NM_001350568.2:c.797T>C, NM_001350568.2:c.797T>G, NM_001350568.1:c.797T>C, NM_001350568.1:c.797T>G, NR_027394.2:n.1013T>C, NR_027394.2:n.1013T>G, NM_001350564.2:c.797T>C, NM_001350564.2:c.797T>G, NM_001350564.1:c.797T>C, NM_001350564.1:c.797T>G, XM_006715261.2:c.797T>C, XM_006715261.2:c.797T>G, XM_006715261.1:c.797T>C, XM_006715261.1:c.797T>G, NM_001350566.2:c.797T>C, NM_001350566.2:c.797T>G, NM_001350566.1:c.797T>C, NM_001350566.1:c.797T>G, NM_001146017.2:c.797T>C, NM_001146017.2:c.797T>G, NM_001146017.1:c.797T>C, NM_001146017.1:c.797T>G, XM_006715266.2:c.767T>C, XM_006715266.2:c.767T>G, XM_006715266.1:c.767T>C, XM_006715266.1:c.767T>G, NM_001146020.2:c.767T>C, NM_001146020.2:c.767T>G, NM_001146020.1:c.767T>C, NM_001146020.1:c.767T>G, XM_047419532.1:c.797T>C, XM_047419532.1:c.797T>G, XM_047419531.1:c.797T>C, XM_047419531.1:c.797T>G, XM_047419534.1:c.767T>C, XM_047419534.1:c.767T>G, XM_047419536.1:c.767T>C, XM_047419536.1:c.767T>G, XM_047419538.1:c.767T>C, XM_047419538.1:c.767T>G, XM_047419529.1:c.797T>C, XM_047419529.1:c.797T>G, XM_047419530.1:c.797T>C, XM_047419530.1:c.797T>G, XM_047419542.1:c.767T>C, XM_047419542.1:c.767T>G, XM_047419533.1:c.797T>C, XM_047419533.1:c.797T>G, XM_047419537.1:c.767T>C, XM_047419537.1:c.767T>G, XM_047419540.1:c.767T>C, XM_047419540.1:c.767T>G, NM_001394544.1:c.644T>C, NM_001394544.1:c.644T>G, XM_047419544.1:c.767T>C, XM_047419544.1:c.767T>G, NM_001394543.1:c.644T>C, NM_001394543.1:c.644T>G, NM_001394540.1:c.644T>C, NM_001394540.1:c.644T>G, NM_001394541.1:c.644T>C, NM_001394541.1:c.644T>G, XM_047419541.1:c.767T>C, XM_047419541.1:c.767T>G, XM_047419543.1:c.767T>C, XM_047419543.1:c.767T>G, NM_001394545.1:c.644T>C, NM_001394545.1:c.644T>G, NR_027394.1:n.1060T>C, NR_027394.1:n.1060T>G, XM_047419535.1:c.767T>C, XM_047419535.1:c.767T>G, NM_001394539.1:c.674T>C, NM_001394539.1:c.674T>G, NM_001394538.1:c.674T>C, NM_001394538.1:c.674T>G, XM_047419545.1:c.767T>C, XM_047419545.1:c.767T>G, NM_001394542.1:c.644T>C, NM_001394542.1:c.644T>G, XP_006715313.1:p.Met266Thr, XP_006715313.1:p.Met266Arg, XP_006715317.1:p.Met266Thr, XP_006715317.1:p.Met266Arg, XP_006715314.1:p.Met266Thr, XP_006715314.1:p.Met266Arg, XP_006715325.1:p.Met266Thr, XP_006715325.1:p.Met266Arg, NP_542171.2:p.Met256Thr, NP_542171.2:p.Met256Arg, XP_006715320.1:p.Met266Thr, XP_006715320.1:p.Met266Arg, XP_006715326.1:p.Met266Thr, XP_006715326.1:p.Met266Arg, XP_016866978.1:p.Met266Thr, XP_016866978.1:p.Met266Arg, XP_024302354.1:p.Met266Thr, XP_024302354.1:p.Met266Arg, XP_024302352.1:p.Met266Thr, XP_024302352.1:p.Met266Arg, XP_024302353.1:p.Met266Thr, XP_024302353.1:p.Met266Arg, XP_016866981.1:p.Met256Thr, XP_016866981.1:p.Met256Arg, XP_016866982.1:p.Met256Thr, XP_016866982.1:p.Met256Arg, NP_001337490.1:p.Met266Thr, NP_001337490.1:p.Met266Arg, XP_024302355.1:p.Met256Thr, XP_024302355.1:p.Met256Arg, XP_011513297.1:p.Met266Thr, XP_011513297.1:p.Met266Arg, NP_001337499.1:p.Met256Thr, NP_001337499.1:p.Met256Arg, NP_001139490.1:p.Met256Thr, NP_001139490.1:p.Met256Arg, NP_001139488.1:p.Met266Thr, NP_001139488.1:p.Met266Arg, NP_001337491.1:p.Met266Thr, NP_001337491.1:p.Met266Arg, NP_001337496.1:p.Met266Thr, NP_001337496.1:p.Met266Arg, NP_001139491.1:p.Met256Thr, NP_001139491.1:p.Met256Arg, NP_001337494.1:p.Met266Thr, NP_001337494.1:p.Met266Arg, NP_001337498.1:p.Met256Thr, NP_001337498.1:p.Met256Arg, NP_001337492.1:p.Met266Thr, NP_001337492.1:p.Met266Arg, XP_006715328.1:p.Met256Thr, XP_006715328.1:p.Met256Arg, NP_001337497.1:p.Met266Thr, NP_001337497.1:p.Met266Arg, NP_001337493.1:p.Met266Thr, NP_001337493.1:p.Met266Arg, XP_006715324.1:p.Met266Thr, XP_006715324.1:p.Met266Arg, NP_001337495.1:p.Met266Thr, NP_001337495.1:p.Met266Arg, NP_001139489.1:p.Met266Thr, NP_001139489.1:p.Met266Arg, XP_006715329.1:p.Met256Thr, XP_006715329.1:p.Met256Arg, NP_001139492.1:p.Met256Thr, NP_001139492.1:p.Met256Arg, XP_047275488.1:p.Met266Thr, XP_047275488.1:p.Met266Arg, XP_047275487.1:p.Met266Thr, XP_047275487.1:p.Met266Arg, XP_047275490.1:p.Met256Thr, XP_047275490.1:p.Met256Arg, XP_047275492.1:p.Met256Thr, XP_047275492.1:p.Met256Arg, XP_047275494.1:p.Met256Thr, XP_047275494.1:p.Met256Arg, XP_047275485.1:p.Met266Thr, XP_047275485.1:p.Met266Arg, XP_047275486.1:p.Met266Thr, XP_047275486.1:p.Met266Arg, XP_047275498.1:p.Met256Thr, XP_047275498.1:p.Met256Arg, XP_047275489.1:p.Met266Thr, XP_047275489.1:p.Met266Arg, XP_047275493.1:p.Met256Thr, XP_047275493.1:p.Met256Arg, XP_047275496.1:p.Met256Thr, XP_047275496.1:p.Met256Arg, NP_001381473.1:p.Met215Thr, NP_001381473.1:p.Met215Arg, XP_047275500.1:p.Met256Thr, XP_047275500.1:p.Met256Arg, NP_001381472.1:p.Met215Thr, NP_001381472.1:p.Met215Arg, NP_001381469.1:p.Met215Thr, NP_001381469.1:p.Met215Arg, NP_001381470.1:p.Met215Thr, NP_001381470.1:p.Met215Arg, XP_047275497.1:p.Met256Thr, XP_047275497.1:p.Met256Arg, XP_047275499.1:p.Met256Thr, XP_047275499.1:p.Met256Arg, NP_001381474.1:p.Met215Thr, NP_001381474.1:p.Met215Arg, XP_047275491.1:p.Met256Thr, XP_047275491.1:p.Met256Arg, NP_001381468.1:p.Met225Thr, NP_001381468.1:p.Met225Arg, NP_001381467.1:p.Met225Thr, NP_001381467.1:p.Met225Arg, XP_047275501.1:p.Met256Thr, XP_047275501.1:p.Met256Arg, NP_001381471.1:p.Met215Thr, NP_001381471.1:p.Met215Arg

                  9.

                  rs1476552128 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:43503657 (GRCh38)
                    6:43471395 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:43503656:A:G
                    Gene:
                    TJAP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.43503657A>G, NC_000006.11:g.43471395A>G, XM_006715250.5:c.530A>G, XM_006715250.4:c.530A>G, XM_006715250.3:c.530A>G, XM_006715250.2:c.530A>G, XM_006715250.1:c.530A>G, XM_006715254.5:c.530A>G, XM_006715254.4:c.530A>G, XM_006715254.3:c.530A>G, XM_006715254.2:c.530A>G, XM_006715254.1:c.530A>G, XM_006715251.4:c.530A>G, XM_006715251.3:c.530A>G, XM_006715251.2:c.530A>G, XM_006715251.1:c.530A>G, XM_006715262.3:c.530A>G, XM_006715262.2:c.530A>G, XM_006715262.1:c.530A>G, NM_080604.3:c.500A>G, NM_080604.2:c.500A>G, XM_006715257.3:c.530A>G, XM_006715257.2:c.530A>G, XM_006715257.1:c.530A>G, XM_006715263.3:c.530A>G, XM_006715263.2:c.530A>G, XM_006715263.1:c.530A>G, XM_017011489.2:c.530A>G, XM_017011489.1:c.530A>G, XM_024446586.2:c.530A>G, XM_024446586.1:c.530A>G, XM_024446584.2:c.530A>G, XM_024446584.1:c.530A>G, XM_024446585.2:c.530A>G, XM_024446585.1:c.530A>G, XM_017011492.2:c.500A>G, XM_017011492.1:c.500A>G, XM_017011493.2:c.500A>G, XM_017011493.1:c.500A>G, NM_001350561.2:c.530A>G, NM_001350561.1:c.530A>G, XM_024446587.2:c.500A>G, XM_024446587.1:c.500A>G, XM_011514995.2:c.530A>G, XM_011514995.1:c.530A>G, NR_146793.2:n.826A>G, NR_146793.1:n.873A>G, NM_001350570.2:c.500A>G, NM_001350570.1:c.500A>G, NM_001146018.2:c.500A>G, NM_001146018.1:c.500A>G, NM_001146016.2:c.530A>G, NM_001146016.1:c.530A>G, NM_001350562.2:c.530A>G, NM_001350562.1:c.530A>G, NM_001350567.2:c.530A>G, NM_001350567.1:c.530A>G, NM_001146019.2:c.500A>G, NM_001146019.1:c.500A>G, NM_001350565.2:c.530A>G, NM_001350565.1:c.530A>G, NM_001350569.2:c.500A>G, NM_001350569.1:c.500A>G, NM_001350563.2:c.530A>G, NM_001350563.1:c.530A>G, XM_006715265.2:c.500A>G, XM_006715265.1:c.500A>G, NM_001350568.2:c.530A>G, NM_001350568.1:c.530A>G, NR_027394.2:n.746A>G, NM_001350564.2:c.530A>G, NM_001350564.1:c.530A>G, XM_006715261.2:c.530A>G, XM_006715261.1:c.530A>G, NM_001350566.2:c.530A>G, NM_001350566.1:c.530A>G, NM_001146017.2:c.530A>G, NM_001146017.1:c.530A>G, XM_006715266.2:c.500A>G, XM_006715266.1:c.500A>G, NM_001146020.2:c.500A>G, NM_001146020.1:c.500A>G, XM_047419532.1:c.530A>G, XM_047419531.1:c.530A>G, XM_047419534.1:c.500A>G, XM_047419536.1:c.500A>G, XM_047419538.1:c.500A>G, XM_047419529.1:c.530A>G, XM_047419530.1:c.530A>G, XM_047419542.1:c.500A>G, XM_047419533.1:c.530A>G, XM_047419537.1:c.500A>G, XM_047419540.1:c.500A>G, NM_001394544.1:c.377A>G, XM_047419544.1:c.500A>G, NM_001394543.1:c.377A>G, NM_001394540.1:c.377A>G, NM_001394541.1:c.377A>G, XM_047419541.1:c.500A>G, XM_047419543.1:c.500A>G, NM_001394545.1:c.377A>G, NR_027394.1:n.793A>G, XM_047419535.1:c.500A>G, NM_001394539.1:c.407A>G, NM_001394538.1:c.407A>G, XM_047419545.1:c.500A>G, NM_001394542.1:c.377A>G, XM_047419547.1:c.500A>G, XM_047419548.1:c.500A>G, XM_047419546.1:c.530A>G, XP_006715313.1:p.Gln177Arg, XP_006715317.1:p.Gln177Arg, XP_006715314.1:p.Gln177Arg, XP_006715325.1:p.Gln177Arg, NP_542171.2:p.Gln167Arg, XP_006715320.1:p.Gln177Arg, XP_006715326.1:p.Gln177Arg, XP_016866978.1:p.Gln177Arg, XP_024302354.1:p.Gln177Arg, XP_024302352.1:p.Gln177Arg, XP_024302353.1:p.Gln177Arg, XP_016866981.1:p.Gln167Arg, XP_016866982.1:p.Gln167Arg, NP_001337490.1:p.Gln177Arg, XP_024302355.1:p.Gln167Arg, XP_011513297.1:p.Gln177Arg, NP_001337499.1:p.Gln167Arg, NP_001139490.1:p.Gln167Arg, NP_001139488.1:p.Gln177Arg, NP_001337491.1:p.Gln177Arg, NP_001337496.1:p.Gln177Arg, NP_001139491.1:p.Gln167Arg, NP_001337494.1:p.Gln177Arg, NP_001337498.1:p.Gln167Arg, NP_001337492.1:p.Gln177Arg, XP_006715328.1:p.Gln167Arg, NP_001337497.1:p.Gln177Arg, NP_001337493.1:p.Gln177Arg, XP_006715324.1:p.Gln177Arg, NP_001337495.1:p.Gln177Arg, NP_001139489.1:p.Gln177Arg, XP_006715329.1:p.Gln167Arg, NP_001139492.1:p.Gln167Arg, XP_047275488.1:p.Gln177Arg, XP_047275487.1:p.Gln177Arg, XP_047275490.1:p.Gln167Arg, XP_047275492.1:p.Gln167Arg, XP_047275494.1:p.Gln167Arg, XP_047275485.1:p.Gln177Arg, XP_047275486.1:p.Gln177Arg, XP_047275498.1:p.Gln167Arg, XP_047275489.1:p.Gln177Arg, XP_047275493.1:p.Gln167Arg, XP_047275496.1:p.Gln167Arg, NP_001381473.1:p.Gln126Arg, XP_047275500.1:p.Gln167Arg, NP_001381472.1:p.Gln126Arg, NP_001381469.1:p.Gln126Arg, NP_001381470.1:p.Gln126Arg, XP_047275497.1:p.Gln167Arg, XP_047275499.1:p.Gln167Arg, NP_001381474.1:p.Gln126Arg, XP_047275491.1:p.Gln167Arg, NP_001381468.1:p.Gln136Arg, NP_001381467.1:p.Gln136Arg, XP_047275501.1:p.Gln167Arg, NP_001381471.1:p.Gln126Arg, XP_047275503.1:p.Gln167Arg, XP_047275504.1:p.Gln167Arg, XP_047275502.1:p.Gln177Arg

                    10.

                    rs1475424410 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:43504971 (GRCh38)
                      6:43472709 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:43504970:G:A
                      Gene:
                      TJAP1 (Varview)
                      Functional Consequence:
                      missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.43504971G>A, NC_000006.11:g.43472709G>A, NG_028283.3:g.270G>A, XM_006715250.5:c.790G>A, XM_006715250.4:c.790G>A, XM_006715250.3:c.790G>A, XM_006715250.2:c.790G>A, XM_006715250.1:c.790G>A, XM_006715254.5:c.790G>A, XM_006715254.4:c.790G>A, XM_006715254.3:c.790G>A, XM_006715254.2:c.790G>A, XM_006715254.1:c.790G>A, XM_006715251.4:c.790G>A, XM_006715251.3:c.790G>A, XM_006715251.2:c.790G>A, XM_006715251.1:c.790G>A, XM_006715262.3:c.790G>A, XM_006715262.2:c.790G>A, XM_006715262.1:c.790G>A, NM_080604.3:c.760G>A, NM_080604.2:c.760G>A, XM_006715257.3:c.790G>A, XM_006715257.2:c.790G>A, XM_006715257.1:c.790G>A, XM_006715263.3:c.790G>A, XM_006715263.2:c.790G>A, XM_006715263.1:c.790G>A, XM_017011489.2:c.790G>A, XM_017011489.1:c.790G>A, XM_024446586.2:c.790G>A, XM_024446586.1:c.790G>A, XM_024446584.2:c.790G>A, XM_024446584.1:c.790G>A, XM_024446585.2:c.790G>A, XM_024446585.1:c.790G>A, XM_017011492.2:c.760G>A, XM_017011492.1:c.760G>A, XM_017011493.2:c.760G>A, XM_017011493.1:c.760G>A, NM_001350561.2:c.790G>A, NM_001350561.1:c.790G>A, XM_024446587.2:c.760G>A, XM_024446587.1:c.760G>A, XM_011514995.2:c.790G>A, XM_011514995.1:c.790G>A, NR_146793.2:n.1166G>A, NR_146793.1:n.1213G>A, NM_001350570.2:c.760G>A, NM_001350570.1:c.760G>A, NM_001146018.2:c.760G>A, NM_001146018.1:c.760G>A, NM_001146016.2:c.790G>A, NM_001146016.1:c.790G>A, NM_001350562.2:c.790G>A, NM_001350562.1:c.790G>A, NM_001350567.2:c.790G>A, NM_001350567.1:c.790G>A, NM_001146019.2:c.760G>A, NM_001146019.1:c.760G>A, NM_001350565.2:c.790G>A, NM_001350565.1:c.790G>A, NM_001350569.2:c.760G>A, NM_001350569.1:c.760G>A, NM_001350563.2:c.790G>A, NM_001350563.1:c.790G>A, XM_006715265.2:c.760G>A, XM_006715265.1:c.760G>A, NM_001350568.2:c.790G>A, NM_001350568.1:c.790G>A, NR_027394.2:n.1006G>A, NM_001350564.2:c.790G>A, NM_001350564.1:c.790G>A, XM_006715261.2:c.790G>A, XM_006715261.1:c.790G>A, NM_001350566.2:c.790G>A, NM_001350566.1:c.790G>A, NM_001146017.2:c.790G>A, NM_001146017.1:c.790G>A, XM_006715266.2:c.760G>A, XM_006715266.1:c.760G>A, NM_001146020.2:c.760G>A, NM_001146020.1:c.760G>A, XM_047419532.1:c.790G>A, XM_047419531.1:c.790G>A, XM_047419534.1:c.760G>A, XM_047419536.1:c.760G>A, XM_047419538.1:c.760G>A, XM_047419529.1:c.790G>A, XM_047419530.1:c.790G>A, XM_047419542.1:c.760G>A, XM_047419533.1:c.790G>A, XM_047419537.1:c.760G>A, XM_047419540.1:c.760G>A, NM_001394544.1:c.637G>A, XM_047419544.1:c.760G>A, NM_001394543.1:c.637G>A, NM_001394540.1:c.637G>A, NM_001394541.1:c.637G>A, XM_047419541.1:c.760G>A, XM_047419543.1:c.760G>A, NM_001394545.1:c.637G>A, NR_027394.1:n.1053G>A, XM_047419535.1:c.760G>A, NM_001394539.1:c.667G>A, NM_001394538.1:c.667G>A, XM_047419545.1:c.760G>A, NM_001394542.1:c.637G>A, XP_006715313.1:p.Val264Met, XP_006715317.1:p.Val264Met, XP_006715314.1:p.Val264Met, XP_006715325.1:p.Val264Met, NP_542171.2:p.Val254Met, XP_006715320.1:p.Val264Met, XP_006715326.1:p.Val264Met, XP_016866978.1:p.Val264Met, XP_024302354.1:p.Val264Met, XP_024302352.1:p.Val264Met, XP_024302353.1:p.Val264Met, XP_016866981.1:p.Val254Met, XP_016866982.1:p.Val254Met, NP_001337490.1:p.Val264Met, XP_024302355.1:p.Val254Met, XP_011513297.1:p.Val264Met, NP_001337499.1:p.Val254Met, NP_001139490.1:p.Val254Met, NP_001139488.1:p.Val264Met, NP_001337491.1:p.Val264Met, NP_001337496.1:p.Val264Met, NP_001139491.1:p.Val254Met, NP_001337494.1:p.Val264Met, NP_001337498.1:p.Val254Met, NP_001337492.1:p.Val264Met, XP_006715328.1:p.Val254Met, NP_001337497.1:p.Val264Met, NP_001337493.1:p.Val264Met, XP_006715324.1:p.Val264Met, NP_001337495.1:p.Val264Met, NP_001139489.1:p.Val264Met, XP_006715329.1:p.Val254Met, NP_001139492.1:p.Val254Met, XP_047275488.1:p.Val264Met, XP_047275487.1:p.Val264Met, XP_047275490.1:p.Val254Met, XP_047275492.1:p.Val254Met, XP_047275494.1:p.Val254Met, XP_047275485.1:p.Val264Met, XP_047275486.1:p.Val264Met, XP_047275498.1:p.Val254Met, XP_047275489.1:p.Val264Met, XP_047275493.1:p.Val254Met, XP_047275496.1:p.Val254Met, NP_001381473.1:p.Val213Met, XP_047275500.1:p.Val254Met, NP_001381472.1:p.Val213Met, NP_001381469.1:p.Val213Met, NP_001381470.1:p.Val213Met, XP_047275497.1:p.Val254Met, XP_047275499.1:p.Val254Met, NP_001381474.1:p.Val213Met, XP_047275491.1:p.Val254Met, NP_001381468.1:p.Val223Met, NP_001381467.1:p.Val223Met, XP_047275501.1:p.Val254Met, NP_001381471.1:p.Val213Met

                      11.

                      rs1467309315 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        6:43505433 (GRCh38)
                        6:43473171 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:43505432:TTT:TT
                        Gene:
                        TJAP1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.43505435del, NC_000006.11:g.43473173del, NG_028283.3:g.734del, XM_006715250.5:c.1254del, XM_006715250.4:c.1254del, XM_006715250.3:c.1254del, XM_006715250.2:c.1254del, XM_006715250.1:c.1254del, XM_006715254.5:c.1254del, XM_006715254.4:c.1254del, XM_006715254.3:c.1254del, XM_006715254.2:c.1254del, XM_006715254.1:c.1254del, XM_006715251.4:c.1254del, XM_006715251.3:c.1254del, XM_006715251.2:c.1254del, XM_006715251.1:c.1254del, XM_006715262.3:c.1254del, XM_006715262.2:c.1254del, XM_006715262.1:c.1254del, NM_080604.3:c.1224del, NM_080604.2:c.1224del, XM_006715257.3:c.1254del, XM_006715257.2:c.1254del, XM_006715257.1:c.1254del, XM_006715263.3:c.1254del, XM_006715263.2:c.1254del, XM_006715263.1:c.1254del, XM_017011489.2:c.1254del, XM_017011489.1:c.1254del, XM_024446586.2:c.1254del, XM_024446586.1:c.1254del, XM_024446584.2:c.1254del, XM_024446584.1:c.1254del, XM_024446585.2:c.1254del, XM_024446585.1:c.1254del, XM_017011492.2:c.1224del, XM_017011492.1:c.1224del, XM_017011493.2:c.1224del, XM_017011493.1:c.1224del, NM_001350561.2:c.1254del, NM_001350561.1:c.1254del, XM_024446587.2:c.1224del, XM_024446587.1:c.1224del, XM_011514995.2:c.1254del, XM_011514995.1:c.1254del, NR_146793.2:n.1630del, NR_146793.1:n.1677del, NM_001350570.2:c.1224del, NM_001350570.1:c.1224del, NM_001146018.2:c.1224del, NM_001146018.1:c.1224del, NM_001146016.2:c.1254del, NM_001146016.1:c.1254del, NM_001350562.2:c.1254del, NM_001350562.1:c.1254del, NM_001350567.2:c.1254del, NM_001350567.1:c.1254del, NM_001146019.2:c.1224del, NM_001146019.1:c.1224del, NM_001350565.2:c.1254del, NM_001350565.1:c.1254del, NM_001350569.2:c.1224del, NM_001350569.1:c.1224del, NM_001350563.2:c.1254del, NM_001350563.1:c.1254del, XM_006715265.2:c.1224del, XM_006715265.1:c.1224del, NM_001350568.2:c.1254del, NM_001350568.1:c.1254del, NR_027394.2:n.1470del, NM_001350564.2:c.1254del, NM_001350564.1:c.1254del, XM_006715261.2:c.1254del, XM_006715261.1:c.1254del, NM_001350566.2:c.1254del, NM_001350566.1:c.1254del, NM_001146017.2:c.1254del, NM_001146017.1:c.1254del, XM_006715266.2:c.1224del, XM_006715266.1:c.1224del, NM_001146020.2:c.1224del, NM_001146020.1:c.1224del, XM_047419532.1:c.1254del, XM_047419531.1:c.1254del, XM_047419534.1:c.1224del, XM_047419536.1:c.1224del, XM_047419538.1:c.1224del, XM_047419529.1:c.1254del, XM_047419530.1:c.1254del, XM_047419542.1:c.1224del, XM_047419533.1:c.1254del, XM_047419537.1:c.1224del, XM_047419540.1:c.1224del, NM_001394544.1:c.1101del, XM_047419544.1:c.1224del, NM_001394543.1:c.1101del, NM_001394540.1:c.1101del, NM_001394541.1:c.1101del, XM_047419541.1:c.1224del, XM_047419543.1:c.1224del, NM_001394545.1:c.1101del, NR_027394.1:n.1517del, XM_047419535.1:c.1224del, NM_001394539.1:c.1131del, NM_001394538.1:c.1131del, XM_047419545.1:c.1224del, NM_001394542.1:c.1101del, XP_006715313.1:p.Phe418fs, XP_006715317.1:p.Phe418fs, XP_006715314.1:p.Phe418fs, XP_006715325.1:p.Phe418fs, NP_542171.2:p.Phe408fs, XP_006715320.1:p.Phe418fs, XP_006715326.1:p.Phe418fs, XP_016866978.1:p.Phe418fs, XP_024302354.1:p.Phe418fs, XP_024302352.1:p.Phe418fs, XP_024302353.1:p.Phe418fs, XP_016866981.1:p.Phe408fs, XP_016866982.1:p.Phe408fs, NP_001337490.1:p.Phe418fs, XP_024302355.1:p.Phe408fs, XP_011513297.1:p.Phe418fs, NP_001337499.1:p.Phe408fs, NP_001139490.1:p.Phe408fs, NP_001139488.1:p.Phe418fs, NP_001337491.1:p.Phe418fs, NP_001337496.1:p.Phe418fs, NP_001139491.1:p.Phe408fs, NP_001337494.1:p.Phe418fs, NP_001337498.1:p.Phe408fs, NP_001337492.1:p.Phe418fs, XP_006715328.1:p.Phe408fs, NP_001337497.1:p.Phe418fs, NP_001337493.1:p.Phe418fs, XP_006715324.1:p.Phe418fs, NP_001337495.1:p.Phe418fs, NP_001139489.1:p.Phe418fs, XP_006715329.1:p.Phe408fs, NP_001139492.1:p.Phe408fs, XP_047275488.1:p.Phe418fs, XP_047275487.1:p.Phe418fs, XP_047275490.1:p.Phe408fs, XP_047275492.1:p.Phe408fs, XP_047275494.1:p.Phe408fs, XP_047275485.1:p.Phe418fs, XP_047275486.1:p.Phe418fs, XP_047275498.1:p.Phe408fs, XP_047275489.1:p.Phe418fs, XP_047275493.1:p.Phe408fs, XP_047275496.1:p.Phe408fs, NP_001381473.1:p.Phe367fs, XP_047275500.1:p.Phe408fs, NP_001381472.1:p.Phe367fs, NP_001381469.1:p.Phe367fs, NP_001381470.1:p.Phe367fs, XP_047275497.1:p.Phe408fs, XP_047275499.1:p.Phe408fs, NP_001381474.1:p.Phe367fs, XP_047275491.1:p.Phe408fs, NP_001381468.1:p.Phe377fs, NP_001381467.1:p.Phe377fs, XP_047275501.1:p.Phe408fs, NP_001381471.1:p.Phe367fs

                        12.

                        rs1466316670 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:43505744 (GRCh38)
                          6:43473482 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:43505743:A:G
                          Gene:
                          TJAP1 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.43505744A>G, NC_000006.11:g.43473482A>G, NG_028283.3:g.1043A>G, XM_006715250.5:c.1563A>G, XM_006715250.4:c.1563A>G, XM_006715250.3:c.1563A>G, XM_006715250.2:c.1563A>G, XM_006715250.1:c.1563A>G, XM_006715254.5:c.1563A>G, XM_006715254.4:c.1563A>G, XM_006715254.3:c.1563A>G, XM_006715254.2:c.1563A>G, XM_006715254.1:c.1563A>G, XM_006715251.4:c.1563A>G, XM_006715251.3:c.1563A>G, XM_006715251.2:c.1563A>G, XM_006715251.1:c.1563A>G, XM_006715262.3:c.1563A>G, XM_006715262.2:c.1563A>G, XM_006715262.1:c.1563A>G, NM_080604.3:c.1533A>G, NM_080604.2:c.1533A>G, XM_006715257.3:c.1563A>G, XM_006715257.2:c.1563A>G, XM_006715257.1:c.1563A>G, XM_006715263.3:c.1563A>G, XM_006715263.2:c.1563A>G, XM_006715263.1:c.1563A>G, XM_017011489.2:c.1563A>G, XM_017011489.1:c.1563A>G, XM_024446586.2:c.1563A>G, XM_024446586.1:c.1563A>G, XM_024446584.2:c.1563A>G, XM_024446584.1:c.1563A>G, XM_024446585.2:c.1563A>G, XM_024446585.1:c.1563A>G, XM_017011492.2:c.1533A>G, XM_017011492.1:c.1533A>G, XM_017011493.2:c.1533A>G, XM_017011493.1:c.1533A>G, NM_001350561.2:c.1563A>G, NM_001350561.1:c.1563A>G, XM_024446587.2:c.1533A>G, XM_024446587.1:c.1533A>G, XM_011514995.2:c.1563A>G, XM_011514995.1:c.1563A>G, NR_146793.2:n.1939A>G, NR_146793.1:n.1986A>G, NM_001350570.2:c.1533A>G, NM_001350570.1:c.1533A>G, NM_001146018.2:c.1533A>G, NM_001146018.1:c.1533A>G, NM_001146016.2:c.1563A>G, NM_001146016.1:c.1563A>G, NM_001350562.2:c.1563A>G, NM_001350562.1:c.1563A>G, NM_001350567.2:c.1563A>G, NM_001350567.1:c.1563A>G, NM_001146019.2:c.1533A>G, NM_001146019.1:c.1533A>G, NM_001350565.2:c.1563A>G, NM_001350565.1:c.1563A>G, NM_001350569.2:c.1533A>G, NM_001350569.1:c.1533A>G, NM_001350563.2:c.1563A>G, NM_001350563.1:c.1563A>G, XM_006715265.2:c.1533A>G, XM_006715265.1:c.1533A>G, NM_001350568.2:c.1563A>G, NM_001350568.1:c.1563A>G, NR_027394.2:n.1779A>G, NM_001350564.2:c.1563A>G, NM_001350564.1:c.1563A>G, XM_006715261.2:c.1563A>G, XM_006715261.1:c.1563A>G, NM_001350566.2:c.1563A>G, NM_001350566.1:c.1563A>G, NM_001146017.2:c.1563A>G, NM_001146017.1:c.1563A>G, XM_006715266.2:c.1533A>G, XM_006715266.1:c.1533A>G, NM_001146020.2:c.1533A>G, NM_001146020.1:c.1533A>G, XM_047419532.1:c.1563A>G, XM_047419531.1:c.1563A>G, XM_047419534.1:c.1533A>G, XM_047419536.1:c.1533A>G, XM_047419538.1:c.1533A>G, XM_047419529.1:c.1563A>G, XM_047419530.1:c.1563A>G, XM_047419542.1:c.1533A>G, XM_047419533.1:c.1563A>G, XM_047419537.1:c.1533A>G, XM_047419540.1:c.1533A>G, NM_001394544.1:c.1410A>G, XM_047419544.1:c.1533A>G, NM_001394543.1:c.1410A>G, NM_001394540.1:c.1410A>G, NM_001394541.1:c.1410A>G, XM_047419541.1:c.1533A>G, XM_047419543.1:c.1533A>G, NM_001394545.1:c.1410A>G, NR_027394.1:n.1826A>G, XM_047419535.1:c.1533A>G, NM_001394539.1:c.1440A>G, NM_001394538.1:c.1440A>G, XM_047419545.1:c.1533A>G, NM_001394542.1:c.1410A>G

                          13.

                          rs1464294783 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            6:43505609 (GRCh38)
                            6:43473347 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:43505608:C:G
                            Gene:
                            TJAP1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.43505609C>G, NC_000006.11:g.43473347C>G, NG_028283.3:g.908C>G, XM_006715250.5:c.1428C>G, XM_006715250.4:c.1428C>G, XM_006715250.3:c.1428C>G, XM_006715250.2:c.1428C>G, XM_006715250.1:c.1428C>G, XM_006715254.5:c.1428C>G, XM_006715254.4:c.1428C>G, XM_006715254.3:c.1428C>G, XM_006715254.2:c.1428C>G, XM_006715254.1:c.1428C>G, XM_006715251.4:c.1428C>G, XM_006715251.3:c.1428C>G, XM_006715251.2:c.1428C>G, XM_006715251.1:c.1428C>G, XM_006715262.3:c.1428C>G, XM_006715262.2:c.1428C>G, XM_006715262.1:c.1428C>G, NM_080604.3:c.1398C>G, NM_080604.2:c.1398C>G, XM_006715257.3:c.1428C>G, XM_006715257.2:c.1428C>G, XM_006715257.1:c.1428C>G, XM_006715263.3:c.1428C>G, XM_006715263.2:c.1428C>G, XM_006715263.1:c.1428C>G, XM_017011489.2:c.1428C>G, XM_017011489.1:c.1428C>G, XM_024446586.2:c.1428C>G, XM_024446586.1:c.1428C>G, XM_024446584.2:c.1428C>G, XM_024446584.1:c.1428C>G, XM_024446585.2:c.1428C>G, XM_024446585.1:c.1428C>G, XM_017011492.2:c.1398C>G, XM_017011492.1:c.1398C>G, XM_017011493.2:c.1398C>G, XM_017011493.1:c.1398C>G, NM_001350561.2:c.1428C>G, NM_001350561.1:c.1428C>G, XM_024446587.2:c.1398C>G, XM_024446587.1:c.1398C>G, XM_011514995.2:c.1428C>G, XM_011514995.1:c.1428C>G, NR_146793.2:n.1804C>G, NR_146793.1:n.1851C>G, NM_001350570.2:c.1398C>G, NM_001350570.1:c.1398C>G, NM_001146018.2:c.1398C>G, NM_001146018.1:c.1398C>G, NM_001146016.2:c.1428C>G, NM_001146016.1:c.1428C>G, NM_001350562.2:c.1428C>G, NM_001350562.1:c.1428C>G, NM_001350567.2:c.1428C>G, NM_001350567.1:c.1428C>G, NM_001146019.2:c.1398C>G, NM_001146019.1:c.1398C>G, NM_001350565.2:c.1428C>G, NM_001350565.1:c.1428C>G, NM_001350569.2:c.1398C>G, NM_001350569.1:c.1398C>G, NM_001350563.2:c.1428C>G, NM_001350563.1:c.1428C>G, XM_006715265.2:c.1398C>G, XM_006715265.1:c.1398C>G, NM_001350568.2:c.1428C>G, NM_001350568.1:c.1428C>G, NR_027394.2:n.1644C>G, NM_001350564.2:c.1428C>G, NM_001350564.1:c.1428C>G, XM_006715261.2:c.1428C>G, XM_006715261.1:c.1428C>G, NM_001350566.2:c.1428C>G, NM_001350566.1:c.1428C>G, NM_001146017.2:c.1428C>G, NM_001146017.1:c.1428C>G, XM_006715266.2:c.1398C>G, XM_006715266.1:c.1398C>G, NM_001146020.2:c.1398C>G, NM_001146020.1:c.1398C>G, XM_047419532.1:c.1428C>G, XM_047419531.1:c.1428C>G, XM_047419534.1:c.1398C>G, XM_047419536.1:c.1398C>G, XM_047419538.1:c.1398C>G, XM_047419529.1:c.1428C>G, XM_047419530.1:c.1428C>G, XM_047419542.1:c.1398C>G, XM_047419533.1:c.1428C>G, XM_047419537.1:c.1398C>G, XM_047419540.1:c.1398C>G, NM_001394544.1:c.1275C>G, XM_047419544.1:c.1398C>G, NM_001394543.1:c.1275C>G, NM_001394540.1:c.1275C>G, NM_001394541.1:c.1275C>G, XM_047419541.1:c.1398C>G, XM_047419543.1:c.1398C>G, NM_001394545.1:c.1275C>G, NR_027394.1:n.1691C>G, XM_047419535.1:c.1398C>G, NM_001394539.1:c.1305C>G, NM_001394538.1:c.1305C>G, XM_047419545.1:c.1398C>G, NM_001394542.1:c.1275C>G, XP_006715313.1:p.Asp476Glu, XP_006715317.1:p.Asp476Glu, XP_006715314.1:p.Asp476Glu, XP_006715325.1:p.Asp476Glu, NP_542171.2:p.Asp466Glu, XP_006715320.1:p.Asp476Glu, XP_006715326.1:p.Asp476Glu, XP_016866978.1:p.Asp476Glu, XP_024302354.1:p.Asp476Glu, XP_024302352.1:p.Asp476Glu, XP_024302353.1:p.Asp476Glu, XP_016866981.1:p.Asp466Glu, XP_016866982.1:p.Asp466Glu, NP_001337490.1:p.Asp476Glu, XP_024302355.1:p.Asp466Glu, XP_011513297.1:p.Asp476Glu, NP_001337499.1:p.Asp466Glu, NP_001139490.1:p.Asp466Glu, NP_001139488.1:p.Asp476Glu, NP_001337491.1:p.Asp476Glu, NP_001337496.1:p.Asp476Glu, NP_001139491.1:p.Asp466Glu, NP_001337494.1:p.Asp476Glu, NP_001337498.1:p.Asp466Glu, NP_001337492.1:p.Asp476Glu, XP_006715328.1:p.Asp466Glu, NP_001337497.1:p.Asp476Glu, NP_001337493.1:p.Asp476Glu, XP_006715324.1:p.Asp476Glu, NP_001337495.1:p.Asp476Glu, NP_001139489.1:p.Asp476Glu, XP_006715329.1:p.Asp466Glu, NP_001139492.1:p.Asp466Glu, XP_047275488.1:p.Asp476Glu, XP_047275487.1:p.Asp476Glu, XP_047275490.1:p.Asp466Glu, XP_047275492.1:p.Asp466Glu, XP_047275494.1:p.Asp466Glu, XP_047275485.1:p.Asp476Glu, XP_047275486.1:p.Asp476Glu, XP_047275498.1:p.Asp466Glu, XP_047275489.1:p.Asp476Glu, XP_047275493.1:p.Asp466Glu, XP_047275496.1:p.Asp466Glu, NP_001381473.1:p.Asp425Glu, XP_047275500.1:p.Asp466Glu, NP_001381472.1:p.Asp425Glu, NP_001381469.1:p.Asp425Glu, NP_001381470.1:p.Asp425Glu, XP_047275497.1:p.Asp466Glu, XP_047275499.1:p.Asp466Glu, NP_001381474.1:p.Asp425Glu, XP_047275491.1:p.Asp466Glu, NP_001381468.1:p.Asp435Glu, NP_001381467.1:p.Asp435Glu, XP_047275501.1:p.Asp466Glu, NP_001381471.1:p.Asp425Glu

                            14.

                            rs1462719094 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:43505732 (GRCh38)
                              6:43473470 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:43505731:C:T
                              Gene:
                              TJAP1 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,genic_downstream_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_000006.12:g.43505732C>T, NC_000006.11:g.43473470C>T, NG_028283.3:g.1031C>T, XM_006715250.5:c.1551C>T, XM_006715250.4:c.1551C>T, XM_006715250.3:c.1551C>T, XM_006715250.2:c.1551C>T, XM_006715250.1:c.1551C>T, XM_006715254.5:c.1551C>T, XM_006715254.4:c.1551C>T, XM_006715254.3:c.1551C>T, XM_006715254.2:c.1551C>T, XM_006715254.1:c.1551C>T, XM_006715251.4:c.1551C>T, XM_006715251.3:c.1551C>T, XM_006715251.2:c.1551C>T, XM_006715251.1:c.1551C>T, XM_006715262.3:c.1551C>T, XM_006715262.2:c.1551C>T, XM_006715262.1:c.1551C>T, NM_080604.3:c.1521C>T, NM_080604.2:c.1521C>T, XM_006715257.3:c.1551C>T, XM_006715257.2:c.1551C>T, XM_006715257.1:c.1551C>T, XM_006715263.3:c.1551C>T, XM_006715263.2:c.1551C>T, XM_006715263.1:c.1551C>T, XM_017011489.2:c.1551C>T, XM_017011489.1:c.1551C>T, XM_024446586.2:c.1551C>T, XM_024446586.1:c.1551C>T, XM_024446584.2:c.1551C>T, XM_024446584.1:c.1551C>T, XM_024446585.2:c.1551C>T, XM_024446585.1:c.1551C>T, XM_017011492.2:c.1521C>T, XM_017011492.1:c.1521C>T, XM_017011493.2:c.1521C>T, XM_017011493.1:c.1521C>T, NM_001350561.2:c.1551C>T, NM_001350561.1:c.1551C>T, XM_024446587.2:c.1521C>T, XM_024446587.1:c.1521C>T, XM_011514995.2:c.1551C>T, XM_011514995.1:c.1551C>T, NR_146793.2:n.1927C>T, NR_146793.1:n.1974C>T, NM_001350570.2:c.1521C>T, NM_001350570.1:c.1521C>T, NM_001146018.2:c.1521C>T, NM_001146018.1:c.1521C>T, NM_001146016.2:c.1551C>T, NM_001146016.1:c.1551C>T, NM_001350562.2:c.1551C>T, NM_001350562.1:c.1551C>T, NM_001350567.2:c.1551C>T, NM_001350567.1:c.1551C>T, NM_001146019.2:c.1521C>T, NM_001146019.1:c.1521C>T, NM_001350565.2:c.1551C>T, NM_001350565.1:c.1551C>T, NM_001350569.2:c.1521C>T, NM_001350569.1:c.1521C>T, NM_001350563.2:c.1551C>T, NM_001350563.1:c.1551C>T, XM_006715265.2:c.1521C>T, XM_006715265.1:c.1521C>T, NM_001350568.2:c.1551C>T, NM_001350568.1:c.1551C>T, NR_027394.2:n.1767C>T, NM_001350564.2:c.1551C>T, NM_001350564.1:c.1551C>T, XM_006715261.2:c.1551C>T, XM_006715261.1:c.1551C>T, NM_001350566.2:c.1551C>T, NM_001350566.1:c.1551C>T, NM_001146017.2:c.1551C>T, NM_001146017.1:c.1551C>T, XM_006715266.2:c.1521C>T, XM_006715266.1:c.1521C>T, NM_001146020.2:c.1521C>T, NM_001146020.1:c.1521C>T, XM_047419532.1:c.1551C>T, XM_047419531.1:c.1551C>T, XM_047419534.1:c.1521C>T, XM_047419536.1:c.1521C>T, XM_047419538.1:c.1521C>T, XM_047419529.1:c.1551C>T, XM_047419530.1:c.1551C>T, XM_047419542.1:c.1521C>T, XM_047419533.1:c.1551C>T, XM_047419537.1:c.1521C>T, XM_047419540.1:c.1521C>T, NM_001394544.1:c.1398C>T, XM_047419544.1:c.1521C>T, NM_001394543.1:c.1398C>T, NM_001394540.1:c.1398C>T, NM_001394541.1:c.1398C>T, XM_047419541.1:c.1521C>T, XM_047419543.1:c.1521C>T, NM_001394545.1:c.1398C>T, NR_027394.1:n.1814C>T, XM_047419535.1:c.1521C>T, NM_001394539.1:c.1428C>T, NM_001394538.1:c.1428C>T, XM_047419545.1:c.1521C>T, NM_001394542.1:c.1398C>T

                              15.

                              rs1462013467 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                6:43505265 (GRCh38)
                                6:43473003 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:43505264:C:G,NC_000006.12:43505264:C:T
                                Gene:
                                TJAP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.43505265C>G, NC_000006.12:g.43505265C>T, NC_000006.11:g.43473003C>G, NC_000006.11:g.43473003C>T, NG_028283.3:g.564C>G, NG_028283.3:g.564C>T, XM_006715250.5:c.1084C>G, XM_006715250.5:c.1084C>T, XM_006715250.4:c.1084C>G, XM_006715250.4:c.1084C>T, XM_006715250.3:c.1084C>G, XM_006715250.3:c.1084C>T, XM_006715250.2:c.1084C>G, XM_006715250.2:c.1084C>T, XM_006715250.1:c.1084C>G, XM_006715250.1:c.1084C>T, XM_006715254.5:c.1084C>G, XM_006715254.5:c.1084C>T, XM_006715254.4:c.1084C>G, XM_006715254.4:c.1084C>T, XM_006715254.3:c.1084C>G, XM_006715254.3:c.1084C>T, XM_006715254.2:c.1084C>G, XM_006715254.2:c.1084C>T, XM_006715254.1:c.1084C>G, XM_006715254.1:c.1084C>T, XM_006715251.4:c.1084C>G, XM_006715251.4:c.1084C>T, XM_006715251.3:c.1084C>G, XM_006715251.3:c.1084C>T, XM_006715251.2:c.1084C>G, XM_006715251.2:c.1084C>T, XM_006715251.1:c.1084C>G, XM_006715251.1:c.1084C>T, XM_006715262.3:c.1084C>G, XM_006715262.3:c.1084C>T, XM_006715262.2:c.1084C>G, XM_006715262.2:c.1084C>T, XM_006715262.1:c.1084C>G, XM_006715262.1:c.1084C>T, NM_080604.3:c.1054C>G, NM_080604.3:c.1054C>T, NM_080604.2:c.1054C>G, NM_080604.2:c.1054C>T, XM_006715257.3:c.1084C>G, XM_006715257.3:c.1084C>T, XM_006715257.2:c.1084C>G, XM_006715257.2:c.1084C>T, XM_006715257.1:c.1084C>G, XM_006715257.1:c.1084C>T, XM_006715263.3:c.1084C>G, XM_006715263.3:c.1084C>T, XM_006715263.2:c.1084C>G, XM_006715263.2:c.1084C>T, XM_006715263.1:c.1084C>G, XM_006715263.1:c.1084C>T, XM_017011489.2:c.1084C>G, XM_017011489.2:c.1084C>T, XM_017011489.1:c.1084C>G, XM_017011489.1:c.1084C>T, XM_024446586.2:c.1084C>G, XM_024446586.2:c.1084C>T, XM_024446586.1:c.1084C>G, XM_024446586.1:c.1084C>T, XM_024446584.2:c.1084C>G, XM_024446584.2:c.1084C>T, XM_024446584.1:c.1084C>G, XM_024446584.1:c.1084C>T, XM_024446585.2:c.1084C>G, XM_024446585.2:c.1084C>T, XM_024446585.1:c.1084C>G, XM_024446585.1:c.1084C>T, XM_017011492.2:c.1054C>G, XM_017011492.2:c.1054C>T, XM_017011492.1:c.1054C>G, XM_017011492.1:c.1054C>T, XM_017011493.2:c.1054C>G, XM_017011493.2:c.1054C>T, XM_017011493.1:c.1054C>G, XM_017011493.1:c.1054C>T, NM_001350561.2:c.1084C>G, NM_001350561.2:c.1084C>T, NM_001350561.1:c.1084C>G, NM_001350561.1:c.1084C>T, XM_024446587.2:c.1054C>G, XM_024446587.2:c.1054C>T, XM_024446587.1:c.1054C>G, XM_024446587.1:c.1054C>T, XM_011514995.2:c.1084C>G, XM_011514995.2:c.1084C>T, XM_011514995.1:c.1084C>G, XM_011514995.1:c.1084C>T, NR_146793.2:n.1460C>G, NR_146793.2:n.1460C>T, NR_146793.1:n.1507C>G, NR_146793.1:n.1507C>T, NM_001350570.2:c.1054C>G, NM_001350570.2:c.1054C>T, NM_001350570.1:c.1054C>G, NM_001350570.1:c.1054C>T, NM_001146018.2:c.1054C>G, NM_001146018.2:c.1054C>T, NM_001146018.1:c.1054C>G, NM_001146018.1:c.1054C>T, NM_001146016.2:c.1084C>G, NM_001146016.2:c.1084C>T, NM_001146016.1:c.1084C>G, NM_001146016.1:c.1084C>T, NM_001350562.2:c.1084C>G, NM_001350562.2:c.1084C>T, NM_001350562.1:c.1084C>G, NM_001350562.1:c.1084C>T, NM_001350567.2:c.1084C>G, NM_001350567.2:c.1084C>T, NM_001350567.1:c.1084C>G, NM_001350567.1:c.1084C>T, NM_001146019.2:c.1054C>G, NM_001146019.2:c.1054C>T, NM_001146019.1:c.1054C>G, NM_001146019.1:c.1054C>T, NM_001350565.2:c.1084C>G, NM_001350565.2:c.1084C>T, NM_001350565.1:c.1084C>G, NM_001350565.1:c.1084C>T, NM_001350569.2:c.1054C>G, NM_001350569.2:c.1054C>T, NM_001350569.1:c.1054C>G, NM_001350569.1:c.1054C>T, NM_001350563.2:c.1084C>G, NM_001350563.2:c.1084C>T, NM_001350563.1:c.1084C>G, NM_001350563.1:c.1084C>T, XM_006715265.2:c.1054C>G, XM_006715265.2:c.1054C>T, XM_006715265.1:c.1054C>G, XM_006715265.1:c.1054C>T, NM_001350568.2:c.1084C>G, NM_001350568.2:c.1084C>T, NM_001350568.1:c.1084C>G, NM_001350568.1:c.1084C>T, NR_027394.2:n.1300C>G, NR_027394.2:n.1300C>T, NM_001350564.2:c.1084C>G, NM_001350564.2:c.1084C>T, NM_001350564.1:c.1084C>G, NM_001350564.1:c.1084C>T, XM_006715261.2:c.1084C>G, XM_006715261.2:c.1084C>T, XM_006715261.1:c.1084C>G, XM_006715261.1:c.1084C>T, NM_001350566.2:c.1084C>G, NM_001350566.2:c.1084C>T, NM_001350566.1:c.1084C>G, NM_001350566.1:c.1084C>T, NM_001146017.2:c.1084C>G, NM_001146017.2:c.1084C>T, NM_001146017.1:c.1084C>G, NM_001146017.1:c.1084C>T, XM_006715266.2:c.1054C>G, XM_006715266.2:c.1054C>T, XM_006715266.1:c.1054C>G, XM_006715266.1:c.1054C>T, NM_001146020.2:c.1054C>G, NM_001146020.2:c.1054C>T, NM_001146020.1:c.1054C>G, NM_001146020.1:c.1054C>T, XM_047419532.1:c.1084C>G, XM_047419532.1:c.1084C>T, XM_047419531.1:c.1084C>G, XM_047419531.1:c.1084C>T, XM_047419534.1:c.1054C>G, XM_047419534.1:c.1054C>T, XM_047419536.1:c.1054C>G, XM_047419536.1:c.1054C>T, XM_047419538.1:c.1054C>G, XM_047419538.1:c.1054C>T, XM_047419529.1:c.1084C>G, XM_047419529.1:c.1084C>T, XM_047419530.1:c.1084C>G, XM_047419530.1:c.1084C>T, XM_047419542.1:c.1054C>G, XM_047419542.1:c.1054C>T, XM_047419533.1:c.1084C>G, XM_047419533.1:c.1084C>T, XM_047419537.1:c.1054C>G, XM_047419537.1:c.1054C>T, XM_047419540.1:c.1054C>G, XM_047419540.1:c.1054C>T, NM_001394544.1:c.931C>G, NM_001394544.1:c.931C>T, XM_047419544.1:c.1054C>G, XM_047419544.1:c.1054C>T, NM_001394543.1:c.931C>G, NM_001394543.1:c.931C>T, NM_001394540.1:c.931C>G, NM_001394540.1:c.931C>T, NM_001394541.1:c.931C>G, NM_001394541.1:c.931C>T, XM_047419541.1:c.1054C>G, XM_047419541.1:c.1054C>T, XM_047419543.1:c.1054C>G, XM_047419543.1:c.1054C>T, NM_001394545.1:c.931C>G, NM_001394545.1:c.931C>T, NR_027394.1:n.1347C>G, NR_027394.1:n.1347C>T, XM_047419535.1:c.1054C>G, XM_047419535.1:c.1054C>T, NM_001394539.1:c.961C>G, NM_001394539.1:c.961C>T, NM_001394538.1:c.961C>G, NM_001394538.1:c.961C>T, XM_047419545.1:c.1054C>G, XM_047419545.1:c.1054C>T, NM_001394542.1:c.931C>G, NM_001394542.1:c.931C>T, XP_006715313.1:p.Leu362Val, XP_006715317.1:p.Leu362Val, XP_006715314.1:p.Leu362Val, XP_006715325.1:p.Leu362Val, NP_542171.2:p.Leu352Val, XP_006715320.1:p.Leu362Val, XP_006715326.1:p.Leu362Val, XP_016866978.1:p.Leu362Val, XP_024302354.1:p.Leu362Val, XP_024302352.1:p.Leu362Val, XP_024302353.1:p.Leu362Val, XP_016866981.1:p.Leu352Val, XP_016866982.1:p.Leu352Val, NP_001337490.1:p.Leu362Val, XP_024302355.1:p.Leu352Val, XP_011513297.1:p.Leu362Val, NP_001337499.1:p.Leu352Val, NP_001139490.1:p.Leu352Val, NP_001139488.1:p.Leu362Val, NP_001337491.1:p.Leu362Val, NP_001337496.1:p.Leu362Val, NP_001139491.1:p.Leu352Val, NP_001337494.1:p.Leu362Val, NP_001337498.1:p.Leu352Val, NP_001337492.1:p.Leu362Val, XP_006715328.1:p.Leu352Val, NP_001337497.1:p.Leu362Val, NP_001337493.1:p.Leu362Val, XP_006715324.1:p.Leu362Val, NP_001337495.1:p.Leu362Val, NP_001139489.1:p.Leu362Val, XP_006715329.1:p.Leu352Val, NP_001139492.1:p.Leu352Val, XP_047275488.1:p.Leu362Val, XP_047275487.1:p.Leu362Val, XP_047275490.1:p.Leu352Val, XP_047275492.1:p.Leu352Val, XP_047275494.1:p.Leu352Val, XP_047275485.1:p.Leu362Val, XP_047275486.1:p.Leu362Val, XP_047275498.1:p.Leu352Val, XP_047275489.1:p.Leu362Val, XP_047275493.1:p.Leu352Val, XP_047275496.1:p.Leu352Val, NP_001381473.1:p.Leu311Val, XP_047275500.1:p.Leu352Val, NP_001381472.1:p.Leu311Val, NP_001381469.1:p.Leu311Val, NP_001381470.1:p.Leu311Val, XP_047275497.1:p.Leu352Val, XP_047275499.1:p.Leu352Val, NP_001381474.1:p.Leu311Val, XP_047275491.1:p.Leu352Val, NP_001381468.1:p.Leu321Val, NP_001381467.1:p.Leu321Val, XP_047275501.1:p.Leu352Val, NP_001381471.1:p.Leu311Val

                                16.

                                rs1460702560 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  6:43499051 (GRCh38)
                                  6:43466789 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:43499050:A:T
                                  Gene:
                                  TJAP1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.43499051A>T, NC_000006.11:g.43466789A>T, XM_006715250.5:c.50A>T, XM_006715250.4:c.50A>T, XM_006715250.3:c.50A>T, XM_006715250.2:c.50A>T, XM_006715250.1:c.50A>T, XM_006715254.5:c.50A>T, XM_006715254.4:c.50A>T, XM_006715254.3:c.50A>T, XM_006715254.2:c.50A>T, XM_006715254.1:c.50A>T, XM_006715251.4:c.50A>T, XM_006715251.3:c.50A>T, XM_006715251.2:c.50A>T, XM_006715251.1:c.50A>T, XM_006715262.3:c.50A>T, XM_006715262.2:c.50A>T, XM_006715262.1:c.50A>T, NM_080604.3:c.50A>T, NM_080604.2:c.50A>T, XM_006715257.3:c.50A>T, XM_006715257.2:c.50A>T, XM_006715257.1:c.50A>T, XM_006715263.3:c.50A>T, XM_006715263.2:c.50A>T, XM_006715263.1:c.50A>T, XM_017011489.2:c.50A>T, XM_017011489.1:c.50A>T, XM_024446586.2:c.50A>T, XM_024446586.1:c.50A>T, XM_024446584.2:c.50A>T, XM_024446584.1:c.50A>T, XM_024446585.2:c.50A>T, XM_024446585.1:c.50A>T, XM_017011492.2:c.50A>T, XM_017011492.1:c.50A>T, XM_017011493.2:c.50A>T, XM_017011493.1:c.50A>T, NM_001350561.2:c.50A>T, NM_001350561.1:c.50A>T, XM_024446587.2:c.50A>T, XM_024446587.1:c.50A>T, XM_011514995.2:c.50A>T, XM_011514995.1:c.50A>T, NR_146793.2:n.376A>T, NR_146793.1:n.423A>T, NM_001350570.2:c.50A>T, NM_001350570.1:c.50A>T, NM_001146018.2:c.50A>T, NM_001146018.1:c.50A>T, NM_001146016.2:c.50A>T, NM_001146016.1:c.50A>T, NM_001350562.2:c.50A>T, NM_001350562.1:c.50A>T, NM_001350567.2:c.50A>T, NM_001350567.1:c.50A>T, NM_001146019.2:c.50A>T, NM_001146019.1:c.50A>T, NM_001350565.2:c.50A>T, NM_001350565.1:c.50A>T, NM_001350569.2:c.50A>T, NM_001350569.1:c.50A>T, NM_001350563.2:c.50A>T, NM_001350563.1:c.50A>T, XM_006715265.2:c.50A>T, XM_006715265.1:c.50A>T, NM_001350568.2:c.50A>T, NM_001350568.1:c.50A>T, NR_027394.2:n.230A>T, NM_001350564.2:c.50A>T, NM_001350564.1:c.50A>T, XM_006715261.2:c.50A>T, XM_006715261.1:c.50A>T, NM_001350566.2:c.50A>T, NM_001350566.1:c.50A>T, NM_001146017.2:c.50A>T, NM_001146017.1:c.50A>T, XM_006715266.2:c.50A>T, XM_006715266.1:c.50A>T, NM_001146020.2:c.50A>T, NM_001146020.1:c.50A>T, XM_047419532.1:c.50A>T, XM_047419531.1:c.50A>T, XM_047419534.1:c.50A>T, XM_047419536.1:c.50A>T, XM_047419538.1:c.50A>T, XM_047419529.1:c.50A>T, XM_047419530.1:c.50A>T, XM_047419542.1:c.50A>T, XM_047419533.1:c.50A>T, XM_047419537.1:c.50A>T, XM_047419540.1:c.50A>T, NM_001394544.1:c.-110A>T, XM_047419544.1:c.50A>T, NM_001394543.1:c.-110A>T, NM_001394540.1:c.-110A>T, NM_001394541.1:c.-110A>T, XM_047419541.1:c.50A>T, XM_047419543.1:c.50A>T, NM_001394545.1:c.-110A>T, NR_027394.1:n.277A>T, XM_047419535.1:c.50A>T, NM_001394539.1:c.-110A>T, NM_001394538.1:c.-110A>T, XM_047419545.1:c.50A>T, NM_001394542.1:c.-110A>T, XM_047419547.1:c.50A>T, XM_047419548.1:c.50A>T, XM_047419546.1:c.50A>T, XP_006715313.1:p.Glu17Val, XP_006715317.1:p.Glu17Val, XP_006715314.1:p.Glu17Val, XP_006715325.1:p.Glu17Val, NP_542171.2:p.Glu17Val, XP_006715320.1:p.Glu17Val, XP_006715326.1:p.Glu17Val, XP_016866978.1:p.Glu17Val, XP_024302354.1:p.Glu17Val, XP_024302352.1:p.Glu17Val, XP_024302353.1:p.Glu17Val, XP_016866981.1:p.Glu17Val, XP_016866982.1:p.Glu17Val, NP_001337490.1:p.Glu17Val, XP_024302355.1:p.Glu17Val, XP_011513297.1:p.Glu17Val, NP_001337499.1:p.Glu17Val, NP_001139490.1:p.Glu17Val, NP_001139488.1:p.Glu17Val, NP_001337491.1:p.Glu17Val, NP_001337496.1:p.Glu17Val, NP_001139491.1:p.Glu17Val, NP_001337494.1:p.Glu17Val, NP_001337498.1:p.Glu17Val, NP_001337492.1:p.Glu17Val, XP_006715328.1:p.Glu17Val, NP_001337497.1:p.Glu17Val, NP_001337493.1:p.Glu17Val, XP_006715324.1:p.Glu17Val, NP_001337495.1:p.Glu17Val, NP_001139489.1:p.Glu17Val, XP_006715329.1:p.Glu17Val, NP_001139492.1:p.Glu17Val, XP_047275488.1:p.Glu17Val, XP_047275487.1:p.Glu17Val, XP_047275490.1:p.Glu17Val, XP_047275492.1:p.Glu17Val, XP_047275494.1:p.Glu17Val, XP_047275485.1:p.Glu17Val, XP_047275486.1:p.Glu17Val, XP_047275498.1:p.Glu17Val, XP_047275489.1:p.Glu17Val, XP_047275493.1:p.Glu17Val, XP_047275496.1:p.Glu17Val, XP_047275500.1:p.Glu17Val, XP_047275497.1:p.Glu17Val, XP_047275499.1:p.Glu17Val, XP_047275491.1:p.Glu17Val, XP_047275501.1:p.Glu17Val, XP_047275503.1:p.Glu17Val, XP_047275504.1:p.Glu17Val, XP_047275502.1:p.Glu17Val

                                  17.

                                  rs1459790861 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:43502332 (GRCh38)
                                    6:43470070 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:43502331:G:A
                                    Gene:
                                    TJAP1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.43502332G>A, NC_000006.11:g.43470070G>A, XM_006715250.5:c.340G>A, XM_006715250.4:c.340G>A, XM_006715250.3:c.340G>A, XM_006715250.2:c.340G>A, XM_006715250.1:c.340G>A, XM_006715254.5:c.340G>A, XM_006715254.4:c.340G>A, XM_006715254.3:c.340G>A, XM_006715254.2:c.340G>A, XM_006715254.1:c.340G>A, XM_006715251.4:c.340G>A, XM_006715251.3:c.340G>A, XM_006715251.2:c.340G>A, XM_006715251.1:c.340G>A, XM_006715262.3:c.340G>A, XM_006715262.2:c.340G>A, XM_006715262.1:c.340G>A, NM_080604.3:c.340G>A, NM_080604.2:c.340G>A, XM_006715257.3:c.340G>A, XM_006715257.2:c.340G>A, XM_006715257.1:c.340G>A, XM_006715263.3:c.340G>A, XM_006715263.2:c.340G>A, XM_006715263.1:c.340G>A, XM_017011489.2:c.340G>A, XM_017011489.1:c.340G>A, XM_024446586.2:c.340G>A, XM_024446586.1:c.340G>A, XM_024446584.2:c.340G>A, XM_024446584.1:c.340G>A, XM_024446585.2:c.340G>A, XM_024446585.1:c.340G>A, XM_017011492.2:c.340G>A, XM_017011492.1:c.340G>A, XM_017011493.2:c.340G>A, XM_017011493.1:c.340G>A, NM_001350561.2:c.340G>A, NM_001350561.1:c.340G>A, XM_024446587.2:c.340G>A, XM_024446587.1:c.340G>A, XM_011514995.2:c.340G>A, XM_011514995.1:c.340G>A, NR_146793.2:n.666G>A, NR_146793.1:n.713G>A, NM_001350570.2:c.340G>A, NM_001350570.1:c.340G>A, NM_001146018.2:c.340G>A, NM_001146018.1:c.340G>A, NM_001146016.2:c.340G>A, NM_001146016.1:c.340G>A, NM_001350562.2:c.340G>A, NM_001350562.1:c.340G>A, NM_001350567.2:c.340G>A, NM_001350567.1:c.340G>A, NM_001146019.2:c.340G>A, NM_001146019.1:c.340G>A, NM_001350565.2:c.340G>A, NM_001350565.1:c.340G>A, NM_001350569.2:c.340G>A, NM_001350569.1:c.340G>A, NM_001350563.2:c.340G>A, NM_001350563.1:c.340G>A, XM_006715265.2:c.340G>A, XM_006715265.1:c.340G>A, NM_001350568.2:c.340G>A, NM_001350568.1:c.340G>A, NR_027394.2:n.556G>A, NM_001350564.2:c.340G>A, NM_001350564.1:c.340G>A, XM_006715261.2:c.340G>A, XM_006715261.1:c.340G>A, NM_001350566.2:c.340G>A, NM_001350566.1:c.340G>A, NM_001146017.2:c.340G>A, NM_001146017.1:c.340G>A, XM_006715266.2:c.340G>A, XM_006715266.1:c.340G>A, NM_001146020.2:c.340G>A, NM_001146020.1:c.340G>A, XM_047419532.1:c.340G>A, XM_047419531.1:c.340G>A, XM_047419534.1:c.340G>A, XM_047419536.1:c.340G>A, XM_047419538.1:c.340G>A, XM_047419529.1:c.340G>A, XM_047419530.1:c.340G>A, XM_047419542.1:c.340G>A, XM_047419533.1:c.340G>A, XM_047419537.1:c.340G>A, XM_047419540.1:c.340G>A, NM_001394544.1:c.217G>A, XM_047419544.1:c.340G>A, NM_001394543.1:c.217G>A, NM_001394540.1:c.217G>A, NM_001394541.1:c.217G>A, XM_047419541.1:c.340G>A, XM_047419543.1:c.340G>A, NM_001394545.1:c.217G>A, NR_027394.1:n.603G>A, XM_047419535.1:c.340G>A, NM_001394539.1:c.217G>A, NM_001394538.1:c.217G>A, XM_047419545.1:c.340G>A, NM_001394542.1:c.217G>A, XM_047419547.1:c.340G>A, XM_047419548.1:c.340G>A, XM_047419546.1:c.340G>A, XP_006715313.1:p.Asp114Asn, XP_006715317.1:p.Asp114Asn, XP_006715314.1:p.Asp114Asn, XP_006715325.1:p.Asp114Asn, NP_542171.2:p.Asp114Asn, XP_006715320.1:p.Asp114Asn, XP_006715326.1:p.Asp114Asn, XP_016866978.1:p.Asp114Asn, XP_024302354.1:p.Asp114Asn, XP_024302352.1:p.Asp114Asn, XP_024302353.1:p.Asp114Asn, XP_016866981.1:p.Asp114Asn, XP_016866982.1:p.Asp114Asn, NP_001337490.1:p.Asp114Asn, XP_024302355.1:p.Asp114Asn, XP_011513297.1:p.Asp114Asn, NP_001337499.1:p.Asp114Asn, NP_001139490.1:p.Asp114Asn, NP_001139488.1:p.Asp114Asn, NP_001337491.1:p.Asp114Asn, NP_001337496.1:p.Asp114Asn, NP_001139491.1:p.Asp114Asn, NP_001337494.1:p.Asp114Asn, NP_001337498.1:p.Asp114Asn, NP_001337492.1:p.Asp114Asn, XP_006715328.1:p.Asp114Asn, NP_001337497.1:p.Asp114Asn, NP_001337493.1:p.Asp114Asn, XP_006715324.1:p.Asp114Asn, NP_001337495.1:p.Asp114Asn, NP_001139489.1:p.Asp114Asn, XP_006715329.1:p.Asp114Asn, NP_001139492.1:p.Asp114Asn, XP_047275488.1:p.Asp114Asn, XP_047275487.1:p.Asp114Asn, XP_047275490.1:p.Asp114Asn, XP_047275492.1:p.Asp114Asn, XP_047275494.1:p.Asp114Asn, XP_047275485.1:p.Asp114Asn, XP_047275486.1:p.Asp114Asn, XP_047275498.1:p.Asp114Asn, XP_047275489.1:p.Asp114Asn, XP_047275493.1:p.Asp114Asn, XP_047275496.1:p.Asp114Asn, NP_001381473.1:p.Asp73Asn, XP_047275500.1:p.Asp114Asn, NP_001381472.1:p.Asp73Asn, NP_001381469.1:p.Asp73Asn, NP_001381470.1:p.Asp73Asn, XP_047275497.1:p.Asp114Asn, XP_047275499.1:p.Asp114Asn, NP_001381474.1:p.Asp73Asn, XP_047275491.1:p.Asp114Asn, NP_001381468.1:p.Asp73Asn, NP_001381467.1:p.Asp73Asn, XP_047275501.1:p.Asp114Asn, NP_001381471.1:p.Asp73Asn, XP_047275503.1:p.Asp114Asn, XP_047275504.1:p.Asp114Asn, XP_047275502.1:p.Asp114Asn

                                    18.

                                    rs1457643085 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      6:43504844 (GRCh38)
                                      6:43472582 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:43504843:A:C,NC_000006.12:43504843:A:G
                                      Gene:
                                      TJAP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000016/4 (GnomAD_exomes)
                                      C=0.00006/1 (TOMMO)
                                      HGVS:
                                      NC_000006.12:g.43504844A>C, NC_000006.12:g.43504844A>G, NC_000006.11:g.43472582A>C, NC_000006.11:g.43472582A>G, NG_028283.3:g.143A>C, NG_028283.3:g.143A>G, XM_006715250.5:c.663A>C, XM_006715250.5:c.663A>G, XM_006715250.4:c.663A>C, XM_006715250.4:c.663A>G, XM_006715250.3:c.663A>C, XM_006715250.3:c.663A>G, XM_006715250.2:c.663A>C, XM_006715250.2:c.663A>G, XM_006715250.1:c.663A>C, XM_006715250.1:c.663A>G, XM_006715254.5:c.663A>C, XM_006715254.5:c.663A>G, XM_006715254.4:c.663A>C, XM_006715254.4:c.663A>G, XM_006715254.3:c.663A>C, XM_006715254.3:c.663A>G, XM_006715254.2:c.663A>C, XM_006715254.2:c.663A>G, XM_006715254.1:c.663A>C, XM_006715254.1:c.663A>G, XM_006715251.4:c.663A>C, XM_006715251.4:c.663A>G, XM_006715251.3:c.663A>C, XM_006715251.3:c.663A>G, XM_006715251.2:c.663A>C, XM_006715251.2:c.663A>G, XM_006715251.1:c.663A>C, XM_006715251.1:c.663A>G, XM_006715262.3:c.663A>C, XM_006715262.3:c.663A>G, XM_006715262.2:c.663A>C, XM_006715262.2:c.663A>G, XM_006715262.1:c.663A>C, XM_006715262.1:c.663A>G, NM_080604.3:c.633A>C, NM_080604.3:c.633A>G, NM_080604.2:c.633A>C, NM_080604.2:c.633A>G, XM_006715257.3:c.663A>C, XM_006715257.3:c.663A>G, XM_006715257.2:c.663A>C, XM_006715257.2:c.663A>G, XM_006715257.1:c.663A>C, XM_006715257.1:c.663A>G, XM_006715263.3:c.663A>C, XM_006715263.3:c.663A>G, XM_006715263.2:c.663A>C, XM_006715263.2:c.663A>G, XM_006715263.1:c.663A>C, XM_006715263.1:c.663A>G, XM_017011489.2:c.663A>C, XM_017011489.2:c.663A>G, XM_017011489.1:c.663A>C, XM_017011489.1:c.663A>G, XM_024446586.2:c.663A>C, XM_024446586.2:c.663A>G, XM_024446586.1:c.663A>C, XM_024446586.1:c.663A>G, XM_024446584.2:c.663A>C, XM_024446584.2:c.663A>G, XM_024446584.1:c.663A>C, XM_024446584.1:c.663A>G, XM_024446585.2:c.663A>C, XM_024446585.2:c.663A>G, XM_024446585.1:c.663A>C, XM_024446585.1:c.663A>G, XM_017011492.2:c.633A>C, XM_017011492.2:c.633A>G, XM_017011492.1:c.633A>C, XM_017011492.1:c.633A>G, XM_017011493.2:c.633A>C, XM_017011493.2:c.633A>G, XM_017011493.1:c.633A>C, XM_017011493.1:c.633A>G, NM_001350561.2:c.663A>C, NM_001350561.2:c.663A>G, NM_001350561.1:c.663A>C, NM_001350561.1:c.663A>G, XM_024446587.2:c.633A>C, XM_024446587.2:c.633A>G, XM_024446587.1:c.633A>C, XM_024446587.1:c.633A>G, XM_011514995.2:c.663A>C, XM_011514995.2:c.663A>G, XM_011514995.1:c.663A>C, XM_011514995.1:c.663A>G, NR_146793.2:n.1039A>C, NR_146793.2:n.1039A>G, NR_146793.1:n.1086A>C, NR_146793.1:n.1086A>G, NM_001350570.2:c.633A>C, NM_001350570.2:c.633A>G, NM_001350570.1:c.633A>C, NM_001350570.1:c.633A>G, NM_001146018.2:c.633A>C, NM_001146018.2:c.633A>G, NM_001146018.1:c.633A>C, NM_001146018.1:c.633A>G, NM_001146016.2:c.663A>C, NM_001146016.2:c.663A>G, NM_001146016.1:c.663A>C, NM_001146016.1:c.663A>G, NM_001350562.2:c.663A>C, NM_001350562.2:c.663A>G, NM_001350562.1:c.663A>C, NM_001350562.1:c.663A>G, NM_001350567.2:c.663A>C, NM_001350567.2:c.663A>G, NM_001350567.1:c.663A>C, NM_001350567.1:c.663A>G, NM_001146019.2:c.633A>C, NM_001146019.2:c.633A>G, NM_001146019.1:c.633A>C, NM_001146019.1:c.633A>G, NM_001350565.2:c.663A>C, NM_001350565.2:c.663A>G, NM_001350565.1:c.663A>C, NM_001350565.1:c.663A>G, NM_001350569.2:c.633A>C, NM_001350569.2:c.633A>G, NM_001350569.1:c.633A>C, NM_001350569.1:c.633A>G, NM_001350563.2:c.663A>C, NM_001350563.2:c.663A>G, NM_001350563.1:c.663A>C, NM_001350563.1:c.663A>G, XM_006715265.2:c.633A>C, XM_006715265.2:c.633A>G, XM_006715265.1:c.633A>C, XM_006715265.1:c.633A>G, NM_001350568.2:c.663A>C, NM_001350568.2:c.663A>G, NM_001350568.1:c.663A>C, NM_001350568.1:c.663A>G, NR_027394.2:n.879A>C, NR_027394.2:n.879A>G, NM_001350564.2:c.663A>C, NM_001350564.2:c.663A>G, NM_001350564.1:c.663A>C, NM_001350564.1:c.663A>G, XM_006715261.2:c.663A>C, XM_006715261.2:c.663A>G, XM_006715261.1:c.663A>C, XM_006715261.1:c.663A>G, NM_001350566.2:c.663A>C, NM_001350566.2:c.663A>G, NM_001350566.1:c.663A>C, NM_001350566.1:c.663A>G, NM_001146017.2:c.663A>C, NM_001146017.2:c.663A>G, NM_001146017.1:c.663A>C, NM_001146017.1:c.663A>G, XM_006715266.2:c.633A>C, XM_006715266.2:c.633A>G, XM_006715266.1:c.633A>C, XM_006715266.1:c.633A>G, NM_001146020.2:c.633A>C, NM_001146020.2:c.633A>G, NM_001146020.1:c.633A>C, NM_001146020.1:c.633A>G, XM_047419532.1:c.663A>C, XM_047419532.1:c.663A>G, XM_047419531.1:c.663A>C, XM_047419531.1:c.663A>G, XM_047419534.1:c.633A>C, XM_047419534.1:c.633A>G, XM_047419536.1:c.633A>C, XM_047419536.1:c.633A>G, XM_047419538.1:c.633A>C, XM_047419538.1:c.633A>G, XM_047419529.1:c.663A>C, XM_047419529.1:c.663A>G, XM_047419530.1:c.663A>C, XM_047419530.1:c.663A>G, XM_047419542.1:c.633A>C, XM_047419542.1:c.633A>G, XM_047419533.1:c.663A>C, XM_047419533.1:c.663A>G, XM_047419537.1:c.633A>C, XM_047419537.1:c.633A>G, XM_047419540.1:c.633A>C, XM_047419540.1:c.633A>G, NM_001394544.1:c.510A>C, NM_001394544.1:c.510A>G, XM_047419544.1:c.633A>C, XM_047419544.1:c.633A>G, NM_001394543.1:c.510A>C, NM_001394543.1:c.510A>G, NM_001394540.1:c.510A>C, NM_001394540.1:c.510A>G, NM_001394541.1:c.510A>C, NM_001394541.1:c.510A>G, XM_047419541.1:c.633A>C, XM_047419541.1:c.633A>G, XM_047419543.1:c.633A>C, XM_047419543.1:c.633A>G, NM_001394545.1:c.510A>C, NM_001394545.1:c.510A>G, NR_027394.1:n.926A>C, NR_027394.1:n.926A>G, XM_047419535.1:c.633A>C, XM_047419535.1:c.633A>G, NM_001394539.1:c.540A>C, NM_001394539.1:c.540A>G, NM_001394538.1:c.540A>C, NM_001394538.1:c.540A>G, XM_047419545.1:c.633A>C, XM_047419545.1:c.633A>G, NM_001394542.1:c.510A>C, NM_001394542.1:c.510A>G

                                      19.

                                      rs1456126142 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:43503469 (GRCh38)
                                        6:43471207 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:43503468:G:A
                                        Gene:
                                        TJAP1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.43503469G>A, NC_000006.11:g.43471207G>A, XM_006715250.5:c.456G>A, XM_006715250.4:c.456G>A, XM_006715250.3:c.456G>A, XM_006715250.2:c.456G>A, XM_006715250.1:c.456G>A, XM_006715254.5:c.456G>A, XM_006715254.4:c.456G>A, XM_006715254.3:c.456G>A, XM_006715254.2:c.456G>A, XM_006715254.1:c.456G>A, XM_006715251.4:c.456G>A, XM_006715251.3:c.456G>A, XM_006715251.2:c.456G>A, XM_006715251.1:c.456G>A, XM_006715262.3:c.456G>A, XM_006715262.2:c.456G>A, XM_006715262.1:c.456G>A, NM_080604.3:c.426G>A, NM_080604.2:c.426G>A, XM_006715257.3:c.456G>A, XM_006715257.2:c.456G>A, XM_006715257.1:c.456G>A, XM_006715263.3:c.456G>A, XM_006715263.2:c.456G>A, XM_006715263.1:c.456G>A, XM_017011489.2:c.456G>A, XM_017011489.1:c.456G>A, XM_024446586.2:c.456G>A, XM_024446586.1:c.456G>A, XM_024446584.2:c.456G>A, XM_024446584.1:c.456G>A, XM_024446585.2:c.456G>A, XM_024446585.1:c.456G>A, XM_017011492.2:c.426G>A, XM_017011492.1:c.426G>A, XM_017011493.2:c.426G>A, XM_017011493.1:c.426G>A, NM_001350561.2:c.456G>A, NM_001350561.1:c.456G>A, XM_024446587.2:c.426G>A, XM_024446587.1:c.426G>A, XM_011514995.2:c.456G>A, XM_011514995.1:c.456G>A, NR_146793.2:n.752G>A, NR_146793.1:n.799G>A, NM_001350570.2:c.426G>A, NM_001350570.1:c.426G>A, NM_001146018.2:c.426G>A, NM_001146018.1:c.426G>A, NM_001146016.2:c.456G>A, NM_001146016.1:c.456G>A, NM_001350562.2:c.456G>A, NM_001350562.1:c.456G>A, NM_001350567.2:c.456G>A, NM_001350567.1:c.456G>A, NM_001146019.2:c.426G>A, NM_001146019.1:c.426G>A, NM_001350565.2:c.456G>A, NM_001350565.1:c.456G>A, NM_001350569.2:c.426G>A, NM_001350569.1:c.426G>A, NM_001350563.2:c.456G>A, NM_001350563.1:c.456G>A, XM_006715265.2:c.426G>A, XM_006715265.1:c.426G>A, NM_001350568.2:c.456G>A, NM_001350568.1:c.456G>A, NR_027394.2:n.672G>A, NM_001350564.2:c.456G>A, NM_001350564.1:c.456G>A, XM_006715261.2:c.456G>A, XM_006715261.1:c.456G>A, NM_001350566.2:c.456G>A, NM_001350566.1:c.456G>A, NM_001146017.2:c.456G>A, NM_001146017.1:c.456G>A, XM_006715266.2:c.426G>A, XM_006715266.1:c.426G>A, NM_001146020.2:c.426G>A, NM_001146020.1:c.426G>A, XM_047419532.1:c.456G>A, XM_047419531.1:c.456G>A, XM_047419534.1:c.426G>A, XM_047419536.1:c.426G>A, XM_047419538.1:c.426G>A, XM_047419529.1:c.456G>A, XM_047419530.1:c.456G>A, XM_047419542.1:c.426G>A, XM_047419533.1:c.456G>A, XM_047419537.1:c.426G>A, XM_047419540.1:c.426G>A, NM_001394544.1:c.303G>A, XM_047419544.1:c.426G>A, NM_001394543.1:c.303G>A, NM_001394540.1:c.303G>A, NM_001394541.1:c.303G>A, XM_047419541.1:c.426G>A, XM_047419543.1:c.426G>A, NM_001394545.1:c.303G>A, NR_027394.1:n.719G>A, XM_047419535.1:c.426G>A, NM_001394539.1:c.333G>A, NM_001394538.1:c.333G>A, XM_047419545.1:c.426G>A, NM_001394542.1:c.303G>A, XM_047419547.1:c.426G>A, XM_047419548.1:c.426G>A, XM_047419546.1:c.456G>A

                                        20.

                                        rs1455450738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:43505140 (GRCh38)
                                          6:43472878 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:43505139:C:T
                                          Gene:
                                          TJAP1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.43505140C>T, NC_000006.11:g.43472878C>T, NG_028283.3:g.439C>T, XM_006715250.5:c.959C>T, XM_006715250.4:c.959C>T, XM_006715250.3:c.959C>T, XM_006715250.2:c.959C>T, XM_006715250.1:c.959C>T, XM_006715254.5:c.959C>T, XM_006715254.4:c.959C>T, XM_006715254.3:c.959C>T, XM_006715254.2:c.959C>T, XM_006715254.1:c.959C>T, XM_006715251.4:c.959C>T, XM_006715251.3:c.959C>T, XM_006715251.2:c.959C>T, XM_006715251.1:c.959C>T, XM_006715262.3:c.959C>T, XM_006715262.2:c.959C>T, XM_006715262.1:c.959C>T, NM_080604.3:c.929C>T, NM_080604.2:c.929C>T, XM_006715257.3:c.959C>T, XM_006715257.2:c.959C>T, XM_006715257.1:c.959C>T, XM_006715263.3:c.959C>T, XM_006715263.2:c.959C>T, XM_006715263.1:c.959C>T, XM_017011489.2:c.959C>T, XM_017011489.1:c.959C>T, XM_024446586.2:c.959C>T, XM_024446586.1:c.959C>T, XM_024446584.2:c.959C>T, XM_024446584.1:c.959C>T, XM_024446585.2:c.959C>T, XM_024446585.1:c.959C>T, XM_017011492.2:c.929C>T, XM_017011492.1:c.929C>T, XM_017011493.2:c.929C>T, XM_017011493.1:c.929C>T, NM_001350561.2:c.959C>T, NM_001350561.1:c.959C>T, XM_024446587.2:c.929C>T, XM_024446587.1:c.929C>T, XM_011514995.2:c.959C>T, XM_011514995.1:c.959C>T, NR_146793.2:n.1335C>T, NR_146793.1:n.1382C>T, NM_001350570.2:c.929C>T, NM_001350570.1:c.929C>T, NM_001146018.2:c.929C>T, NM_001146018.1:c.929C>T, NM_001146016.2:c.959C>T, NM_001146016.1:c.959C>T, NM_001350562.2:c.959C>T, NM_001350562.1:c.959C>T, NM_001350567.2:c.959C>T, NM_001350567.1:c.959C>T, NM_001146019.2:c.929C>T, NM_001146019.1:c.929C>T, NM_001350565.2:c.959C>T, NM_001350565.1:c.959C>T, NM_001350569.2:c.929C>T, NM_001350569.1:c.929C>T, NM_001350563.2:c.959C>T, NM_001350563.1:c.959C>T, XM_006715265.2:c.929C>T, XM_006715265.1:c.929C>T, NM_001350568.2:c.959C>T, NM_001350568.1:c.959C>T, NR_027394.2:n.1175C>T, NM_001350564.2:c.959C>T, NM_001350564.1:c.959C>T, XM_006715261.2:c.959C>T, XM_006715261.1:c.959C>T, NM_001350566.2:c.959C>T, NM_001350566.1:c.959C>T, NM_001146017.2:c.959C>T, NM_001146017.1:c.959C>T, XM_006715266.2:c.929C>T, XM_006715266.1:c.929C>T, NM_001146020.2:c.929C>T, NM_001146020.1:c.929C>T, XM_047419532.1:c.959C>T, XM_047419531.1:c.959C>T, XM_047419534.1:c.929C>T, XM_047419536.1:c.929C>T, XM_047419538.1:c.929C>T, XM_047419529.1:c.959C>T, XM_047419530.1:c.959C>T, XM_047419542.1:c.929C>T, XM_047419533.1:c.959C>T, XM_047419537.1:c.929C>T, XM_047419540.1:c.929C>T, NM_001394544.1:c.806C>T, XM_047419544.1:c.929C>T, NM_001394543.1:c.806C>T, NM_001394540.1:c.806C>T, NM_001394541.1:c.806C>T, XM_047419541.1:c.929C>T, XM_047419543.1:c.929C>T, NM_001394545.1:c.806C>T, NR_027394.1:n.1222C>T, XM_047419535.1:c.929C>T, NM_001394539.1:c.836C>T, NM_001394538.1:c.836C>T, XM_047419545.1:c.929C>T, NM_001394542.1:c.806C>T, XP_006715313.1:p.Ser320Phe, XP_006715317.1:p.Ser320Phe, XP_006715314.1:p.Ser320Phe, XP_006715325.1:p.Ser320Phe, NP_542171.2:p.Ser310Phe, XP_006715320.1:p.Ser320Phe, XP_006715326.1:p.Ser320Phe, XP_016866978.1:p.Ser320Phe, XP_024302354.1:p.Ser320Phe, XP_024302352.1:p.Ser320Phe, XP_024302353.1:p.Ser320Phe, XP_016866981.1:p.Ser310Phe, XP_016866982.1:p.Ser310Phe, NP_001337490.1:p.Ser320Phe, XP_024302355.1:p.Ser310Phe, XP_011513297.1:p.Ser320Phe, NP_001337499.1:p.Ser310Phe, NP_001139490.1:p.Ser310Phe, NP_001139488.1:p.Ser320Phe, NP_001337491.1:p.Ser320Phe, NP_001337496.1:p.Ser320Phe, NP_001139491.1:p.Ser310Phe, NP_001337494.1:p.Ser320Phe, NP_001337498.1:p.Ser310Phe, NP_001337492.1:p.Ser320Phe, XP_006715328.1:p.Ser310Phe, NP_001337497.1:p.Ser320Phe, NP_001337493.1:p.Ser320Phe, XP_006715324.1:p.Ser320Phe, NP_001337495.1:p.Ser320Phe, NP_001139489.1:p.Ser320Phe, XP_006715329.1:p.Ser310Phe, NP_001139492.1:p.Ser310Phe, XP_047275488.1:p.Ser320Phe, XP_047275487.1:p.Ser320Phe, XP_047275490.1:p.Ser310Phe, XP_047275492.1:p.Ser310Phe, XP_047275494.1:p.Ser310Phe, XP_047275485.1:p.Ser320Phe, XP_047275486.1:p.Ser320Phe, XP_047275498.1:p.Ser310Phe, XP_047275489.1:p.Ser320Phe, XP_047275493.1:p.Ser310Phe, XP_047275496.1:p.Ser310Phe, NP_001381473.1:p.Ser269Phe, XP_047275500.1:p.Ser310Phe, NP_001381472.1:p.Ser269Phe, NP_001381469.1:p.Ser269Phe, NP_001381470.1:p.Ser269Phe, XP_047275497.1:p.Ser310Phe, XP_047275499.1:p.Ser310Phe, NP_001381474.1:p.Ser269Phe, XP_047275491.1:p.Ser310Phe, NP_001381468.1:p.Ser279Phe, NP_001381467.1:p.Ser279Phe, XP_047275501.1:p.Ser310Phe, NP_001381471.1:p.Ser269Phe

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