U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1111

1.

rs1490774578 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:135467626 (GRCh38)
    6:135788764 (GRCh37)
    Canonical SPDI:
    NC_000006.12:135467625:A:G
    Gene:
    AHI1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000006.12:g.135467626A>G, NC_000006.11:g.135788764A>G, NG_008643.2:g.35140T>C, NM_017651.5:c.144T>C, NM_017651.4:c.144T>C, NM_001350503.2:c.144T>C, NM_001350503.1:c.144T>C, NM_001134831.2:c.144T>C, NM_001134831.1:c.144T>C, NM_001350504.2:c.144T>C, NM_001350504.1:c.144T>C, NM_001134830.2:c.144T>C, NM_001134830.1:c.144T>C, NM_001134832.2:c.144T>C, NM_001134832.1:c.144T>C, XM_011535910.4:c.144T>C, XM_011535910.3:c.144T>C, XM_011535910.2:c.144T>C, XM_011535910.1:c.144T>C, XM_011535911.4:c.144T>C, XM_011535911.3:c.144T>C, XM_011535911.2:c.144T>C, XM_011535911.1:c.144T>C, XR_001743480.3:n.503T>C, XR_001743480.2:n.534T>C, XR_001743480.1:n.345T>C, XM_017010979.3:c.144T>C, XM_017010979.2:c.144T>C, XM_017010979.1:c.144T>C, XM_017010984.3:c.144T>C, XM_017010984.2:c.144T>C, XM_017010984.1:c.144T>C, XM_024446480.2:c.144T>C, XM_024446480.1:c.144T>C, XM_047418942.1:c.144T>C, XM_047418943.1:c.144T>C, XM_047418939.1:c.144T>C, XM_047418941.1:c.144T>C, XM_047418946.1:c.144T>C, XM_047418940.1:c.144T>C, XR_007059277.1:n.503T>C, XR_007059276.1:n.356T>C, XM_047418944.1:c.144T>C, XM_047418945.1:c.144T>C, XR_007059278.1:n.503T>C

    2.

    rs1490641975 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      6:135457642 (GRCh38)
      6:135778780 (GRCh37)
      Canonical SPDI:
      NC_000006.12:135457641:G:T
      Gene:
      AHI1 (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=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.135457642G>T, NC_000006.11:g.135778780G>T, NG_008643.2:g.45124C>A, NM_017651.5:c.1003C>A, NM_017651.4:c.1003C>A, NM_001350503.2:c.1003C>A, NM_001350503.1:c.1003C>A, NM_001134831.2:c.1003C>A, NM_001134831.1:c.1003C>A, NM_001350504.2:c.1003C>A, NM_001350504.1:c.1003C>A, NM_001134830.2:c.1003C>A, NM_001134830.1:c.1003C>A, NM_001134832.2:c.1003C>A, NM_001134832.1:c.1003C>A, XM_011535910.4:c.1003C>A, XM_011535910.3:c.1003C>A, XM_011535910.2:c.1003C>A, XM_011535910.1:c.1003C>A, XM_011535911.4:c.1003C>A, XM_011535911.3:c.1003C>A, XM_011535911.2:c.1003C>A, XM_011535911.1:c.1003C>A, XR_001743480.3:n.1362C>A, XR_001743480.2:n.1393C>A, XR_001743480.1:n.1204C>A, XM_017010979.3:c.1003C>A, XM_017010979.2:c.1003C>A, XM_017010979.1:c.1003C>A, XM_017010984.3:c.1003C>A, XM_017010984.2:c.1003C>A, XM_017010984.1:c.1003C>A, XM_024446480.2:c.1003C>A, XM_024446480.1:c.1003C>A, XM_047418942.1:c.1003C>A, XM_047418943.1:c.1003C>A, XM_047418939.1:c.1003C>A, XM_047418941.1:c.1003C>A, XM_047418946.1:c.1003C>A, XM_047418940.1:c.1003C>A, XR_007059277.1:n.1362C>A, XR_007059276.1:n.1215C>A, XM_047418944.1:c.1003C>A, XM_047418945.1:c.1003C>A, XR_007059278.1:n.1362C>A, NP_060121.3:p.Pro335Thr, NP_001337432.1:p.Pro335Thr, NP_001128303.1:p.Pro335Thr, NP_001337433.1:p.Pro335Thr, NP_001128302.1:p.Pro335Thr, NP_001128304.1:p.Pro335Thr, XP_011534212.1:p.Pro335Thr, XP_011534213.1:p.Pro335Thr, XP_016866468.1:p.Pro335Thr, XP_016866473.1:p.Pro335Thr, XP_024302248.1:p.Pro335Thr, XP_047274898.1:p.Pro335Thr, XP_047274899.1:p.Pro335Thr, XP_047274895.1:p.Pro335Thr, XP_047274897.1:p.Pro335Thr, XP_047274902.1:p.Pro335Thr, XP_047274896.1:p.Pro335Thr, XP_047274900.1:p.Pro335Thr, XP_047274901.1:p.Pro335Thr

      3.

      rs1488485624 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:135438384 (GRCh38)
        6:135759522 (GRCh37)
        Canonical SPDI:
        NC_000006.12:135438383:C:T
        Gene:
        AHI1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000009/2 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.135438384C>T, NC_000006.11:g.135759522C>T, NG_008643.2:g.64382G>A, NM_017651.5:c.2027G>A, NM_017651.4:c.2027G>A, NM_001350503.2:c.2027G>A, NM_001350503.1:c.2027G>A, NM_001134831.2:c.2027G>A, NM_001134831.1:c.2027G>A, NM_001350504.2:c.2027G>A, NM_001350504.1:c.2027G>A, NM_001134830.2:c.2027G>A, NM_001134830.1:c.2027G>A, NM_001134832.2:c.2027G>A, NM_001134832.1:c.2027G>A, XM_011535910.4:c.2027G>A, XM_011535910.3:c.2027G>A, XM_011535910.2:c.2027G>A, XM_011535910.1:c.2027G>A, XM_011535911.4:c.2027G>A, XM_011535911.3:c.2027G>A, XM_011535911.2:c.2027G>A, XM_011535911.1:c.2027G>A, XR_001743480.3:n.2386G>A, XR_001743480.2:n.2417G>A, XR_001743480.1:n.2228G>A, XM_017010979.3:c.2027G>A, XM_017010979.2:c.2027G>A, XM_017010979.1:c.2027G>A, XM_017010984.3:c.2027G>A, XM_017010984.2:c.2027G>A, XM_017010984.1:c.2027G>A, XM_024446480.2:c.2027G>A, XM_024446480.1:c.2027G>A, XM_047418942.1:c.2027G>A, XM_047418943.1:c.2027G>A, XM_047418939.1:c.2027G>A, XM_047418941.1:c.2027G>A, XM_047418946.1:c.2027G>A, XM_047418940.1:c.2027G>A, XR_007059277.1:n.2386G>A, XR_007059276.1:n.2239G>A, XM_047418944.1:c.2027G>A, XM_047418945.1:c.2027G>A, XR_007059278.1:n.2386G>A, NP_060121.3:p.Gly676Asp, NP_001337432.1:p.Gly676Asp, NP_001128303.1:p.Gly676Asp, NP_001337433.1:p.Gly676Asp, NP_001128302.1:p.Gly676Asp, NP_001128304.1:p.Gly676Asp, XP_011534212.1:p.Gly676Asp, XP_011534213.1:p.Gly676Asp, XP_016866468.1:p.Gly676Asp, XP_016866473.1:p.Gly676Asp, XP_024302248.1:p.Gly676Asp, XP_047274898.1:p.Gly676Asp, XP_047274899.1:p.Gly676Asp, XP_047274895.1:p.Gly676Asp, XP_047274897.1:p.Gly676Asp, XP_047274902.1:p.Gly676Asp, XP_047274896.1:p.Gly676Asp, XP_047274900.1:p.Gly676Asp, XP_047274901.1:p.Gly676Asp

        4.

        rs1488249011 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          6:135466107 (GRCh38)
          6:135787245 (GRCh37)
          Canonical SPDI:
          NC_000006.12:135466106:A:C,NC_000006.12:135466106:A:G
          Gene:
          AHI1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.135466107A>C, NC_000006.12:g.135466107A>G, NC_000006.11:g.135787245A>C, NC_000006.11:g.135787245A>G, NG_008643.2:g.36659T>G, NG_008643.2:g.36659T>C, NM_017651.5:c.456T>G, NM_017651.5:c.456T>C, NM_017651.4:c.456T>G, NM_017651.4:c.456T>C, NM_001350503.2:c.456T>G, NM_001350503.2:c.456T>C, NM_001350503.1:c.456T>G, NM_001350503.1:c.456T>C, NM_001134831.2:c.456T>G, NM_001134831.2:c.456T>C, NM_001134831.1:c.456T>G, NM_001134831.1:c.456T>C, NM_001350504.2:c.456T>G, NM_001350504.2:c.456T>C, NM_001350504.1:c.456T>G, NM_001350504.1:c.456T>C, NM_001134830.2:c.456T>G, NM_001134830.2:c.456T>C, NM_001134830.1:c.456T>G, NM_001134830.1:c.456T>C, NM_001134832.2:c.456T>G, NM_001134832.2:c.456T>C, NM_001134832.1:c.456T>G, NM_001134832.1:c.456T>C, XM_011535910.4:c.456T>G, XM_011535910.4:c.456T>C, XM_011535910.3:c.456T>G, XM_011535910.3:c.456T>C, XM_011535910.2:c.456T>G, XM_011535910.2:c.456T>C, XM_011535910.1:c.456T>G, XM_011535910.1:c.456T>C, XM_011535911.4:c.456T>G, XM_011535911.4:c.456T>C, XM_011535911.3:c.456T>G, XM_011535911.3:c.456T>C, XM_011535911.2:c.456T>G, XM_011535911.2:c.456T>C, XM_011535911.1:c.456T>G, XM_011535911.1:c.456T>C, XR_001743480.3:n.815T>G, XR_001743480.3:n.815T>C, XR_001743480.2:n.846T>G, XR_001743480.2:n.846T>C, XR_001743480.1:n.657T>G, XR_001743480.1:n.657T>C, XM_017010979.3:c.456T>G, XM_017010979.3:c.456T>C, XM_017010979.2:c.456T>G, XM_017010979.2:c.456T>C, XM_017010979.1:c.456T>G, XM_017010979.1:c.456T>C, XM_017010984.3:c.456T>G, XM_017010984.3:c.456T>C, XM_017010984.2:c.456T>G, XM_017010984.2:c.456T>C, XM_017010984.1:c.456T>G, XM_017010984.1:c.456T>C, XM_024446480.2:c.456T>G, XM_024446480.2:c.456T>C, XM_024446480.1:c.456T>G, XM_024446480.1:c.456T>C, XM_047418942.1:c.456T>G, XM_047418942.1:c.456T>C, XM_047418943.1:c.456T>G, XM_047418943.1:c.456T>C, XM_047418939.1:c.456T>G, XM_047418939.1:c.456T>C, XM_047418941.1:c.456T>G, XM_047418941.1:c.456T>C, XM_047418946.1:c.456T>G, XM_047418946.1:c.456T>C, XM_047418940.1:c.456T>G, XM_047418940.1:c.456T>C, XR_007059277.1:n.815T>G, XR_007059277.1:n.815T>C, XR_007059276.1:n.668T>G, XR_007059276.1:n.668T>C, XM_047418944.1:c.456T>G, XM_047418944.1:c.456T>C, XM_047418945.1:c.456T>G, XM_047418945.1:c.456T>C, XR_007059278.1:n.815T>G, XR_007059278.1:n.815T>C

          5.

          rs1487870522 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            6:135429955 (GRCh38)
            6:135751093 (GRCh37)
            Canonical SPDI:
            NC_000006.12:135429954:C:G
            Gene:
            AHI1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.135429955C>G, NC_000006.11:g.135751093C>G, NG_008643.2:g.72811G>C, NM_017651.5:c.2419G>C, NM_017651.4:c.2419G>C, NM_001350503.2:c.2419G>C, NM_001350503.1:c.2419G>C, NM_001134831.2:c.2419G>C, NM_001134831.1:c.2419G>C, NM_001350504.2:c.2419G>C, NM_001350504.1:c.2419G>C, NM_001134830.2:c.2419G>C, NM_001134830.1:c.2419G>C, NM_001134832.2:c.2419G>C, NM_001134832.1:c.2419G>C, XM_011535910.4:c.2419G>C, XM_011535910.3:c.2419G>C, XM_011535910.2:c.2419G>C, XM_011535910.1:c.2419G>C, XM_011535911.4:c.2419G>C, XM_011535911.3:c.2419G>C, XM_011535911.2:c.2419G>C, XM_011535911.1:c.2419G>C, XR_001743480.3:n.2778G>C, XR_001743480.2:n.2809G>C, XR_001743480.1:n.2620G>C, XM_017010979.3:c.2419G>C, XM_017010979.2:c.2419G>C, XM_017010979.1:c.2419G>C, XM_017010984.3:c.2419G>C, XM_017010984.2:c.2419G>C, XM_017010984.1:c.2419G>C, XM_024446480.2:c.2419G>C, XM_024446480.1:c.2419G>C, XM_047418942.1:c.2419G>C, XM_047418943.1:c.2419G>C, XM_047418939.1:c.2419G>C, XM_047418941.1:c.2419G>C, XM_047418946.1:c.2419G>C, XM_047418940.1:c.2419G>C, XR_007059277.1:n.2778G>C, XR_007059276.1:n.2631G>C, XM_047418944.1:c.2419G>C, XM_047418945.1:c.2419G>C, NP_060121.3:p.Glu807Gln, NP_001337432.1:p.Glu807Gln, NP_001128303.1:p.Glu807Gln, NP_001337433.1:p.Glu807Gln, NP_001128302.1:p.Glu807Gln, NP_001128304.1:p.Glu807Gln, XP_011534212.1:p.Glu807Gln, XP_011534213.1:p.Glu807Gln, XP_016866468.1:p.Glu807Gln, XP_016866473.1:p.Glu807Gln, XP_024302248.1:p.Glu807Gln, XP_047274898.1:p.Glu807Gln, XP_047274899.1:p.Glu807Gln, XP_047274895.1:p.Glu807Gln, XP_047274897.1:p.Glu807Gln, XP_047274902.1:p.Glu807Gln, XP_047274896.1:p.Glu807Gln, XP_047274900.1:p.Glu807Gln, XP_047274901.1:p.Glu807Gln

            6.

            rs1485284078 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:135467584 (GRCh38)
              6:135788722 (GRCh37)
              Canonical SPDI:
              NC_000006.12:135467583:A:G
              Gene:
              AHI1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              NC_000006.12:g.135467584A>G, NC_000006.11:g.135788722A>G, NG_008643.2:g.35182T>C, NM_017651.5:c.186T>C, NM_017651.4:c.186T>C, NM_001350503.2:c.186T>C, NM_001350503.1:c.186T>C, NM_001134831.2:c.186T>C, NM_001134831.1:c.186T>C, NM_001350504.2:c.186T>C, NM_001350504.1:c.186T>C, NM_001134830.2:c.186T>C, NM_001134830.1:c.186T>C, NM_001134832.2:c.186T>C, NM_001134832.1:c.186T>C, XM_011535910.4:c.186T>C, XM_011535910.3:c.186T>C, XM_011535910.2:c.186T>C, XM_011535910.1:c.186T>C, XM_011535911.4:c.186T>C, XM_011535911.3:c.186T>C, XM_011535911.2:c.186T>C, XM_011535911.1:c.186T>C, XR_001743480.3:n.545T>C, XR_001743480.2:n.576T>C, XR_001743480.1:n.387T>C, XM_017010979.3:c.186T>C, XM_017010979.2:c.186T>C, XM_017010979.1:c.186T>C, XM_017010984.3:c.186T>C, XM_017010984.2:c.186T>C, XM_017010984.1:c.186T>C, XM_024446480.2:c.186T>C, XM_024446480.1:c.186T>C, XM_047418942.1:c.186T>C, XM_047418943.1:c.186T>C, XM_047418939.1:c.186T>C, XM_047418941.1:c.186T>C, XM_047418946.1:c.186T>C, XM_047418940.1:c.186T>C, XR_007059277.1:n.545T>C, XR_007059276.1:n.398T>C, XM_047418944.1:c.186T>C, XM_047418945.1:c.186T>C, XR_007059278.1:n.545T>C

              7.

              rs1484858505 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                6:135431229 (GRCh38)
                6:135752367 (GRCh37)
                Canonical SPDI:
                NC_000006.12:135431228:C:G,NC_000006.12:135431228:C:T
                Gene:
                AHI1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000006.12:g.135431229C>G, NC_000006.12:g.135431229C>T, NC_000006.11:g.135752367C>G, NC_000006.11:g.135752367C>T, NG_008643.2:g.71537G>C, NG_008643.2:g.71537G>A, NM_017651.5:c.2352G>C, NM_017651.5:c.2352G>A, NM_017651.4:c.2352G>C, NM_017651.4:c.2352G>A, NM_001350503.2:c.2352G>C, NM_001350503.2:c.2352G>A, NM_001350503.1:c.2352G>C, NM_001350503.1:c.2352G>A, NM_001134831.2:c.2352G>C, NM_001134831.2:c.2352G>A, NM_001134831.1:c.2352G>C, NM_001134831.1:c.2352G>A, NM_001350504.2:c.2352G>C, NM_001350504.2:c.2352G>A, NM_001350504.1:c.2352G>C, NM_001350504.1:c.2352G>A, NM_001134830.2:c.2352G>C, NM_001134830.2:c.2352G>A, NM_001134830.1:c.2352G>C, NM_001134830.1:c.2352G>A, NM_001134832.2:c.2352G>C, NM_001134832.2:c.2352G>A, NM_001134832.1:c.2352G>C, NM_001134832.1:c.2352G>A, XM_011535910.4:c.2352G>C, XM_011535910.4:c.2352G>A, XM_011535910.3:c.2352G>C, XM_011535910.3:c.2352G>A, XM_011535910.2:c.2352G>C, XM_011535910.2:c.2352G>A, XM_011535910.1:c.2352G>C, XM_011535910.1:c.2352G>A, XM_011535911.4:c.2352G>C, XM_011535911.4:c.2352G>A, XM_011535911.3:c.2352G>C, XM_011535911.3:c.2352G>A, XM_011535911.2:c.2352G>C, XM_011535911.2:c.2352G>A, XM_011535911.1:c.2352G>C, XM_011535911.1:c.2352G>A, XR_001743480.3:n.2711G>C, XR_001743480.3:n.2711G>A, XR_001743480.2:n.2742G>C, XR_001743480.2:n.2742G>A, XR_001743480.1:n.2553G>C, XR_001743480.1:n.2553G>A, XM_017010979.3:c.2352G>C, XM_017010979.3:c.2352G>A, XM_017010979.2:c.2352G>C, XM_017010979.2:c.2352G>A, XM_017010979.1:c.2352G>C, XM_017010979.1:c.2352G>A, XM_017010984.3:c.2352G>C, XM_017010984.3:c.2352G>A, XM_017010984.2:c.2352G>C, XM_017010984.2:c.2352G>A, XM_017010984.1:c.2352G>C, XM_017010984.1:c.2352G>A, XM_024446480.2:c.2352G>C, XM_024446480.2:c.2352G>A, XM_024446480.1:c.2352G>C, XM_024446480.1:c.2352G>A, XM_047418942.1:c.2352G>C, XM_047418942.1:c.2352G>A, XM_047418943.1:c.2352G>C, XM_047418943.1:c.2352G>A, XM_047418939.1:c.2352G>C, XM_047418939.1:c.2352G>A, XM_047418941.1:c.2352G>C, XM_047418941.1:c.2352G>A, XM_047418946.1:c.2352G>C, XM_047418946.1:c.2352G>A, XM_047418940.1:c.2352G>C, XM_047418940.1:c.2352G>A, XR_007059277.1:n.2711G>C, XR_007059277.1:n.2711G>A, XR_007059276.1:n.2564G>C, XR_007059276.1:n.2564G>A, XM_047418944.1:c.2352G>C, XM_047418944.1:c.2352G>A, XM_047418945.1:c.2352G>C, XM_047418945.1:c.2352G>A, XR_007059278.1:n.2711G>C, XR_007059278.1:n.2711G>A

                8.

                rs1481234264 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:135463205 (GRCh38)
                  6:135784343 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:135463204:G:A
                  Gene:
                  AHI1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.135463205G>A, NC_000006.11:g.135784343G>A, NG_008643.2:g.39561C>T, NM_017651.5:c.851C>T, NM_017651.4:c.851C>T, NM_001350503.2:c.851C>T, NM_001350503.1:c.851C>T, NM_001134831.2:c.851C>T, NM_001134831.1:c.851C>T, NM_001350504.2:c.851C>T, NM_001350504.1:c.851C>T, NM_001134830.2:c.851C>T, NM_001134830.1:c.851C>T, NM_001134832.2:c.851C>T, NM_001134832.1:c.851C>T, XM_011535910.4:c.851C>T, XM_011535910.3:c.851C>T, XM_011535910.2:c.851C>T, XM_011535910.1:c.851C>T, XM_011535911.4:c.851C>T, XM_011535911.3:c.851C>T, XM_011535911.2:c.851C>T, XM_011535911.1:c.851C>T, XR_001743480.3:n.1210C>T, XR_001743480.2:n.1241C>T, XR_001743480.1:n.1052C>T, XM_017010979.3:c.851C>T, XM_017010979.2:c.851C>T, XM_017010979.1:c.851C>T, XM_017010984.3:c.851C>T, XM_017010984.2:c.851C>T, XM_017010984.1:c.851C>T, XM_024446480.2:c.851C>T, XM_024446480.1:c.851C>T, XM_047418942.1:c.851C>T, XM_047418943.1:c.851C>T, XM_047418939.1:c.851C>T, XM_047418941.1:c.851C>T, XM_047418946.1:c.851C>T, XM_047418940.1:c.851C>T, XR_007059277.1:n.1210C>T, XR_007059276.1:n.1063C>T, XM_047418944.1:c.851C>T, XM_047418945.1:c.851C>T, XR_007059278.1:n.1210C>T, NP_060121.3:p.Ser284Leu, NP_001337432.1:p.Ser284Leu, NP_001128303.1:p.Ser284Leu, NP_001337433.1:p.Ser284Leu, NP_001128302.1:p.Ser284Leu, NP_001128304.1:p.Ser284Leu, XP_011534212.1:p.Ser284Leu, XP_011534213.1:p.Ser284Leu, XP_016866468.1:p.Ser284Leu, XP_016866473.1:p.Ser284Leu, XP_024302248.1:p.Ser284Leu, XP_047274898.1:p.Ser284Leu, XP_047274899.1:p.Ser284Leu, XP_047274895.1:p.Ser284Leu, XP_047274897.1:p.Ser284Leu, XP_047274902.1:p.Ser284Leu, XP_047274896.1:p.Ser284Leu, XP_047274900.1:p.Ser284Leu, XP_047274901.1:p.Ser284Leu

                  9.

                  rs1480575083 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>- [Show Flanks]
                    Chromosome:
                    6:135411428 (GRCh38)
                    6:135732566 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:135411425:AAAA:AA
                    Gene:
                    AHI1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.135411428_135411429del, NC_000006.11:g.135732566_135732567del, NG_008643.2:g.91339_91340del, NM_017651.5:c.2882_2883del, NM_017651.4:c.2882_2883del, NM_001350503.2:c.2882_2883del, NM_001350503.1:c.2882_2883del, NM_001134831.2:c.2882_2883del, NM_001134831.1:c.2882_2883del, NM_001350504.2:c.2882_2883del, NM_001350504.1:c.2882_2883del, NM_001134830.2:c.2882_2883del, NM_001134830.1:c.2882_2883del, NM_001134832.2:c.2882_2883del, NM_001134832.1:c.2882_2883del, XM_011535910.4:c.2882_2883del, XM_011535910.3:c.2882_2883del, XM_011535910.2:c.2882_2883del, XM_011535910.1:c.2882_2883del, XM_011535911.4:c.2882_2883del, XM_011535911.3:c.2882_2883del, XM_011535911.2:c.2882_2883del, XM_011535911.1:c.2882_2883del, XR_001743480.3:n.3241_3242del, XR_001743480.2:n.3272_3273del, XR_001743480.1:n.3083_3084del, XM_017010979.3:c.2882_2883del, XM_017010979.2:c.2882_2883del, XM_017010979.1:c.2882_2883del, XM_017010984.3:c.2882_2883del, XM_017010984.2:c.2882_2883del, XM_017010984.1:c.2882_2883del, XM_024446480.2:c.2882_2883del, XM_024446480.1:c.2882_2883del, XM_047418942.1:c.2882_2883del, XM_047418943.1:c.2882_2883del, XM_047418939.1:c.2882_2883del, XM_047418941.1:c.2882_2883del, XM_047418946.1:c.2882_2883del, XM_047418940.1:c.2882_2883del, XR_007059277.1:n.3241_3242del, XR_007059276.1:n.3094_3095del, XM_047418944.1:c.2882_2883del, XM_047418945.1:c.2882_2883del, NP_060121.3:p.Phe961fs, NP_001337432.1:p.Phe961fs, NP_001128303.1:p.Phe961fs, NP_001337433.1:p.Phe961fs, NP_001128302.1:p.Phe961fs, NP_001128304.1:p.Phe961fs, XP_011534212.1:p.Phe961fs, XP_011534213.1:p.Phe961fs, XP_016866468.1:p.Phe961fs, XP_016866473.1:p.Phe961fs, XP_024302248.1:p.Phe961fs, XP_047274898.1:p.Phe961fs, XP_047274899.1:p.Phe961fs, XP_047274895.1:p.Phe961fs, XP_047274897.1:p.Phe961fs, XP_047274902.1:p.Phe961fs, XP_047274896.1:p.Phe961fs, XP_047274900.1:p.Phe961fs, XP_047274901.1:p.Phe961fs

                    10.

                    rs1480382964 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:135442671 (GRCh38)
                      6:135763809 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:135442670:C:G
                      Gene:
                      AHI1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.135442671C>G, NC_000006.11:g.135763809C>G, NG_008643.2:g.60095G>C, NM_017651.5:c.1823G>C, NM_017651.4:c.1823G>C, NM_001350503.2:c.1823G>C, NM_001350503.1:c.1823G>C, NM_001134831.2:c.1823G>C, NM_001134831.1:c.1823G>C, NM_001350504.2:c.1823G>C, NM_001350504.1:c.1823G>C, NM_001134830.2:c.1823G>C, NM_001134830.1:c.1823G>C, NM_001134832.2:c.1823G>C, NM_001134832.1:c.1823G>C, XM_011535910.4:c.1823G>C, XM_011535910.3:c.1823G>C, XM_011535910.2:c.1823G>C, XM_011535910.1:c.1823G>C, XM_011535911.4:c.1823G>C, XM_011535911.3:c.1823G>C, XM_011535911.2:c.1823G>C, XM_011535911.1:c.1823G>C, XR_001743480.3:n.2182G>C, XR_001743480.2:n.2213G>C, XR_001743480.1:n.2024G>C, XM_017010979.3:c.1823G>C, XM_017010979.2:c.1823G>C, XM_017010979.1:c.1823G>C, XM_017010984.3:c.1823G>C, XM_017010984.2:c.1823G>C, XM_017010984.1:c.1823G>C, XM_024446480.2:c.1823G>C, XM_024446480.1:c.1823G>C, XM_047418942.1:c.1823G>C, XM_047418943.1:c.1823G>C, XM_047418939.1:c.1823G>C, XM_047418941.1:c.1823G>C, XM_047418946.1:c.1823G>C, XM_047418940.1:c.1823G>C, XR_007059277.1:n.2182G>C, XR_007059276.1:n.2035G>C, XM_047418944.1:c.1823G>C, XM_047418945.1:c.1823G>C, XR_007059278.1:n.2182G>C, NP_060121.3:p.Gly608Ala, NP_001337432.1:p.Gly608Ala, NP_001128303.1:p.Gly608Ala, NP_001337433.1:p.Gly608Ala, NP_001128302.1:p.Gly608Ala, NP_001128304.1:p.Gly608Ala, XP_011534212.1:p.Gly608Ala, XP_011534213.1:p.Gly608Ala, XP_016866468.1:p.Gly608Ala, XP_016866473.1:p.Gly608Ala, XP_024302248.1:p.Gly608Ala, XP_047274898.1:p.Gly608Ala, XP_047274899.1:p.Gly608Ala, XP_047274895.1:p.Gly608Ala, XP_047274897.1:p.Gly608Ala, XP_047274902.1:p.Gly608Ala, XP_047274896.1:p.Gly608Ala, XP_047274900.1:p.Gly608Ala, XP_047274901.1:p.Gly608Ala

                      11.

                      rs1480087006 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:135447010 (GRCh38)
                        6:135768148 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:135447009:G:A
                        Gene:
                        AHI1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000028/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000006.12:g.135447010G>A, NC_000006.11:g.135768148G>A, NG_008643.2:g.55756C>T, NM_017651.5:c.1777C>T, NM_017651.4:c.1777C>T, NM_001350503.2:c.1777C>T, NM_001350503.1:c.1777C>T, NM_001134831.2:c.1777C>T, NM_001134831.1:c.1777C>T, NM_001350504.2:c.1777C>T, NM_001350504.1:c.1777C>T, NM_001134830.2:c.1777C>T, NM_001134830.1:c.1777C>T, NM_001134832.2:c.1777C>T, NM_001134832.1:c.1777C>T, XM_011535910.4:c.1777C>T, XM_011535910.3:c.1777C>T, XM_011535910.2:c.1777C>T, XM_011535910.1:c.1777C>T, XM_011535911.4:c.1777C>T, XM_011535911.3:c.1777C>T, XM_011535911.2:c.1777C>T, XM_011535911.1:c.1777C>T, XR_001743480.3:n.2136C>T, XR_001743480.2:n.2167C>T, XR_001743480.1:n.1978C>T, XM_017010979.3:c.1777C>T, XM_017010979.2:c.1777C>T, XM_017010979.1:c.1777C>T, XM_017010984.3:c.1777C>T, XM_017010984.2:c.1777C>T, XM_017010984.1:c.1777C>T, XM_024446480.2:c.1777C>T, XM_024446480.1:c.1777C>T, XM_047418942.1:c.1777C>T, XM_047418943.1:c.1777C>T, XM_047418939.1:c.1777C>T, XM_047418941.1:c.1777C>T, XM_047418946.1:c.1777C>T, XM_047418940.1:c.1777C>T, XR_007059277.1:n.2136C>T, XR_007059276.1:n.1989C>T, XM_047418944.1:c.1777C>T, XM_047418945.1:c.1777C>T, XR_007059278.1:n.2136C>T, NP_060121.3:p.Gln593Ter, NP_001337432.1:p.Gln593Ter, NP_001128303.1:p.Gln593Ter, NP_001337433.1:p.Gln593Ter, NP_001128302.1:p.Gln593Ter, NP_001128304.1:p.Gln593Ter, XP_011534212.1:p.Gln593Ter, XP_011534213.1:p.Gln593Ter, XP_016866468.1:p.Gln593Ter, XP_016866473.1:p.Gln593Ter, XP_024302248.1:p.Gln593Ter, XP_047274898.1:p.Gln593Ter, XP_047274899.1:p.Gln593Ter, XP_047274895.1:p.Gln593Ter, XP_047274897.1:p.Gln593Ter, XP_047274902.1:p.Gln593Ter, XP_047274896.1:p.Gln593Ter, XP_047274900.1:p.Gln593Ter, XP_047274901.1:p.Gln593Ter

                        12.

                        rs1477562833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:135466189 (GRCh38)
                          6:135787327 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:135466188:G:A
                          Gene:
                          AHI1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000006.12:g.135466189G>A, NC_000006.11:g.135787327G>A, NG_008643.2:g.36577C>T, NM_017651.5:c.374C>T, NM_017651.4:c.374C>T, NM_001350503.2:c.374C>T, NM_001350503.1:c.374C>T, NM_001134831.2:c.374C>T, NM_001134831.1:c.374C>T, NM_001350504.2:c.374C>T, NM_001350504.1:c.374C>T, NM_001134830.2:c.374C>T, NM_001134830.1:c.374C>T, NM_001134832.2:c.374C>T, NM_001134832.1:c.374C>T, XM_011535910.4:c.374C>T, XM_011535910.3:c.374C>T, XM_011535910.2:c.374C>T, XM_011535910.1:c.374C>T, XM_011535911.4:c.374C>T, XM_011535911.3:c.374C>T, XM_011535911.2:c.374C>T, XM_011535911.1:c.374C>T, XR_001743480.3:n.733C>T, XR_001743480.2:n.764C>T, XR_001743480.1:n.575C>T, XM_017010979.3:c.374C>T, XM_017010979.2:c.374C>T, XM_017010979.1:c.374C>T, XM_017010984.3:c.374C>T, XM_017010984.2:c.374C>T, XM_017010984.1:c.374C>T, XM_024446480.2:c.374C>T, XM_024446480.1:c.374C>T, XM_047418942.1:c.374C>T, XM_047418943.1:c.374C>T, XM_047418939.1:c.374C>T, XM_047418941.1:c.374C>T, XM_047418946.1:c.374C>T, XM_047418940.1:c.374C>T, XR_007059277.1:n.733C>T, XR_007059276.1:n.586C>T, XM_047418944.1:c.374C>T, XM_047418945.1:c.374C>T, XR_007059278.1:n.733C>T, NP_060121.3:p.Pro125Leu, NP_001337432.1:p.Pro125Leu, NP_001128303.1:p.Pro125Leu, NP_001337433.1:p.Pro125Leu, NP_001128302.1:p.Pro125Leu, NP_001128304.1:p.Pro125Leu, XP_011534212.1:p.Pro125Leu, XP_011534213.1:p.Pro125Leu, XP_016866468.1:p.Pro125Leu, XP_016866473.1:p.Pro125Leu, XP_024302248.1:p.Pro125Leu, XP_047274898.1:p.Pro125Leu, XP_047274899.1:p.Pro125Leu, XP_047274895.1:p.Pro125Leu, XP_047274897.1:p.Pro125Leu, XP_047274902.1:p.Pro125Leu, XP_047274896.1:p.Pro125Leu, XP_047274900.1:p.Pro125Leu, XP_047274901.1:p.Pro125Leu

                          13.

                          rs1477477005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            6:135467585 (GRCh38)
                            6:135788723 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:135467584:T:A,NC_000006.12:135467584:T:C
                            Gene:
                            AHI1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000073/3 (ALFA)
                            C=0.000012/3 (GnomAD_exomes)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000006.12:g.135467585T>A, NC_000006.12:g.135467585T>C, NC_000006.11:g.135788723T>A, NC_000006.11:g.135788723T>C, NG_008643.2:g.35181A>T, NG_008643.2:g.35181A>G, NM_017651.5:c.185A>T, NM_017651.5:c.185A>G, NM_017651.4:c.185A>T, NM_017651.4:c.185A>G, NM_001350503.2:c.185A>T, NM_001350503.2:c.185A>G, NM_001350503.1:c.185A>T, NM_001350503.1:c.185A>G, NM_001134831.2:c.185A>T, NM_001134831.2:c.185A>G, NM_001134831.1:c.185A>T, NM_001134831.1:c.185A>G, NM_001350504.2:c.185A>T, NM_001350504.2:c.185A>G, NM_001350504.1:c.185A>T, NM_001350504.1:c.185A>G, NM_001134830.2:c.185A>T, NM_001134830.2:c.185A>G, NM_001134830.1:c.185A>T, NM_001134830.1:c.185A>G, NM_001134832.2:c.185A>T, NM_001134832.2:c.185A>G, NM_001134832.1:c.185A>T, NM_001134832.1:c.185A>G, XM_011535910.4:c.185A>T, XM_011535910.4:c.185A>G, XM_011535910.3:c.185A>T, XM_011535910.3:c.185A>G, XM_011535910.2:c.185A>T, XM_011535910.2:c.185A>G, XM_011535910.1:c.185A>T, XM_011535910.1:c.185A>G, XM_011535911.4:c.185A>T, XM_011535911.4:c.185A>G, XM_011535911.3:c.185A>T, XM_011535911.3:c.185A>G, XM_011535911.2:c.185A>T, XM_011535911.2:c.185A>G, XM_011535911.1:c.185A>T, XM_011535911.1:c.185A>G, XR_001743480.3:n.544A>T, XR_001743480.3:n.544A>G, XR_001743480.2:n.575A>T, XR_001743480.2:n.575A>G, XR_001743480.1:n.386A>T, XR_001743480.1:n.386A>G, XM_017010979.3:c.185A>T, XM_017010979.3:c.185A>G, XM_017010979.2:c.185A>T, XM_017010979.2:c.185A>G, XM_017010979.1:c.185A>T, XM_017010979.1:c.185A>G, XM_017010984.3:c.185A>T, XM_017010984.3:c.185A>G, XM_017010984.2:c.185A>T, XM_017010984.2:c.185A>G, XM_017010984.1:c.185A>T, XM_017010984.1:c.185A>G, XM_024446480.2:c.185A>T, XM_024446480.2:c.185A>G, XM_024446480.1:c.185A>T, XM_024446480.1:c.185A>G, XM_047418942.1:c.185A>T, XM_047418942.1:c.185A>G, XM_047418943.1:c.185A>T, XM_047418943.1:c.185A>G, XM_047418939.1:c.185A>T, XM_047418939.1:c.185A>G, XM_047418941.1:c.185A>T, XM_047418941.1:c.185A>G, XM_047418946.1:c.185A>T, XM_047418946.1:c.185A>G, XM_047418940.1:c.185A>T, XM_047418940.1:c.185A>G, XR_007059277.1:n.544A>T, XR_007059277.1:n.544A>G, XR_007059276.1:n.397A>T, XR_007059276.1:n.397A>G, XM_047418944.1:c.185A>T, XM_047418944.1:c.185A>G, XM_047418945.1:c.185A>T, XM_047418945.1:c.185A>G, XR_007059278.1:n.544A>T, XR_007059278.1:n.544A>G, NP_060121.3:p.Asp62Val, NP_060121.3:p.Asp62Gly, NP_001337432.1:p.Asp62Val, NP_001337432.1:p.Asp62Gly, NP_001128303.1:p.Asp62Val, NP_001128303.1:p.Asp62Gly, NP_001337433.1:p.Asp62Val, NP_001337433.1:p.Asp62Gly, NP_001128302.1:p.Asp62Val, NP_001128302.1:p.Asp62Gly, NP_001128304.1:p.Asp62Val, NP_001128304.1:p.Asp62Gly, XP_011534212.1:p.Asp62Val, XP_011534212.1:p.Asp62Gly, XP_011534213.1:p.Asp62Val, XP_011534213.1:p.Asp62Gly, XP_016866468.1:p.Asp62Val, XP_016866468.1:p.Asp62Gly, XP_016866473.1:p.Asp62Val, XP_016866473.1:p.Asp62Gly, XP_024302248.1:p.Asp62Val, XP_024302248.1:p.Asp62Gly, XP_047274898.1:p.Asp62Val, XP_047274898.1:p.Asp62Gly, XP_047274899.1:p.Asp62Val, XP_047274899.1:p.Asp62Gly, XP_047274895.1:p.Asp62Val, XP_047274895.1:p.Asp62Gly, XP_047274897.1:p.Asp62Val, XP_047274897.1:p.Asp62Gly, XP_047274902.1:p.Asp62Val, XP_047274902.1:p.Asp62Gly, XP_047274896.1:p.Asp62Val, XP_047274896.1:p.Asp62Gly, XP_047274900.1:p.Asp62Val, XP_047274900.1:p.Asp62Gly, XP_047274901.1:p.Asp62Val, XP_047274901.1:p.Asp62Gly

                            14.

                            rs1472928037 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:135442597 (GRCh38)
                              6:135763735 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:135442596:C:T
                              Gene:
                              AHI1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.135442597C>T, NC_000006.11:g.135763735C>T, NG_008643.2:g.60169G>A, NM_017651.5:c.1897G>A, NM_017651.4:c.1897G>A, NM_001350503.2:c.1897G>A, NM_001350503.1:c.1897G>A, NM_001134831.2:c.1897G>A, NM_001134831.1:c.1897G>A, NM_001350504.2:c.1897G>A, NM_001350504.1:c.1897G>A, NM_001134830.2:c.1897G>A, NM_001134830.1:c.1897G>A, NM_001134832.2:c.1897G>A, NM_001134832.1:c.1897G>A, XM_011535910.4:c.1897G>A, XM_011535910.3:c.1897G>A, XM_011535910.2:c.1897G>A, XM_011535910.1:c.1897G>A, XM_011535911.4:c.1897G>A, XM_011535911.3:c.1897G>A, XM_011535911.2:c.1897G>A, XM_011535911.1:c.1897G>A, XR_001743480.3:n.2256G>A, XR_001743480.2:n.2287G>A, XR_001743480.1:n.2098G>A, XM_017010979.3:c.1897G>A, XM_017010979.2:c.1897G>A, XM_017010979.1:c.1897G>A, XM_017010984.3:c.1897G>A, XM_017010984.2:c.1897G>A, XM_017010984.1:c.1897G>A, XM_024446480.2:c.1897G>A, XM_024446480.1:c.1897G>A, XM_047418942.1:c.1897G>A, XM_047418943.1:c.1897G>A, XM_047418939.1:c.1897G>A, XM_047418941.1:c.1897G>A, XM_047418946.1:c.1897G>A, XM_047418940.1:c.1897G>A, XR_007059277.1:n.2256G>A, XR_007059276.1:n.2109G>A, XM_047418944.1:c.1897G>A, XM_047418945.1:c.1897G>A, XR_007059278.1:n.2256G>A, NP_060121.3:p.Gly633Arg, NP_001337432.1:p.Gly633Arg, NP_001128303.1:p.Gly633Arg, NP_001337433.1:p.Gly633Arg, NP_001128302.1:p.Gly633Arg, NP_001128304.1:p.Gly633Arg, XP_011534212.1:p.Gly633Arg, XP_011534213.1:p.Gly633Arg, XP_016866468.1:p.Gly633Arg, XP_016866473.1:p.Gly633Arg, XP_024302248.1:p.Gly633Arg, XP_047274898.1:p.Gly633Arg, XP_047274899.1:p.Gly633Arg, XP_047274895.1:p.Gly633Arg, XP_047274897.1:p.Gly633Arg, XP_047274902.1:p.Gly633Arg, XP_047274896.1:p.Gly633Arg, XP_047274900.1:p.Gly633Arg, XP_047274901.1:p.Gly633Arg

                              15.

                              rs1472700007 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->GGAAGAA [Show Flanks]
                                Chromosome:
                                6:135455871 (GRCh38)
                                6:135777010 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:135455871:AGGAAGAA:AGGAAGAAGGAAGAA
                                Gene:
                                AHI1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                                HGVS:
                                NC_000006.12:g.135455873_135455879dup, NC_000006.11:g.135777011_135777017dup, NG_008643.2:g.46888_46894dup, NM_017651.5:c.1200_1206dup, NM_017651.4:c.1200_1206dup, NM_001350503.2:c.1200_1206dup, NM_001350503.1:c.1200_1206dup, NM_001134831.2:c.1200_1206dup, NM_001134831.1:c.1200_1206dup, NM_001350504.2:c.1200_1206dup, NM_001350504.1:c.1200_1206dup, NM_001134830.2:c.1200_1206dup, NM_001134830.1:c.1200_1206dup, NM_001134832.2:c.1200_1206dup, NM_001134832.1:c.1200_1206dup, XM_011535910.4:c.1200_1206dup, XM_011535910.3:c.1200_1206dup, XM_011535910.2:c.1200_1206dup, XM_011535910.1:c.1200_1206dup, XM_011535911.4:c.1200_1206dup, XM_011535911.3:c.1200_1206dup, XM_011535911.2:c.1200_1206dup, XM_011535911.1:c.1200_1206dup, XR_001743480.3:n.1559_1565dup, XR_001743480.2:n.1590_1596dup, XR_001743480.1:n.1401_1407dup, XM_017010979.3:c.1200_1206dup, XM_017010979.2:c.1200_1206dup, XM_017010979.1:c.1200_1206dup, XM_017010984.3:c.1200_1206dup, XM_017010984.2:c.1200_1206dup, XM_017010984.1:c.1200_1206dup, XM_024446480.2:c.1200_1206dup, XM_024446480.1:c.1200_1206dup, XM_047418942.1:c.1200_1206dup, XM_047418943.1:c.1200_1206dup, XM_047418939.1:c.1200_1206dup, XM_047418941.1:c.1200_1206dup, XM_047418946.1:c.1200_1206dup, XM_047418940.1:c.1200_1206dup, XR_007059277.1:n.1559_1565dup, XR_007059276.1:n.1412_1418dup, XM_047418944.1:c.1200_1206dup, XM_047418945.1:c.1200_1206dup, XR_007059278.1:n.1559_1565dup, NP_060121.3:p.Ile403fs, NP_001337432.1:p.Ile403fs, NP_001128303.1:p.Ile403fs, NP_001337433.1:p.Ile403fs, NP_001128302.1:p.Ile403fs, NP_001128304.1:p.Ile403fs, XP_011534212.1:p.Ile403fs, XP_011534213.1:p.Ile403fs, XP_016866468.1:p.Ile403fs, XP_016866473.1:p.Ile403fs, XP_024302248.1:p.Ile403fs, XP_047274898.1:p.Ile403fs, XP_047274899.1:p.Ile403fs, XP_047274895.1:p.Ile403fs, XP_047274897.1:p.Ile403fs, XP_047274902.1:p.Ile403fs, XP_047274896.1:p.Ile403fs, XP_047274900.1:p.Ile403fs, XP_047274901.1:p.Ile403fs

                                16.

                                rs1472615958 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:135442638 (GRCh38)
                                  6:135763776 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:135442637:T:C
                                  Gene:
                                  AHI1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000006.12:g.135442638T>C, NC_000006.11:g.135763776T>C, NG_008643.2:g.60128A>G, NM_017651.5:c.1856A>G, NM_017651.4:c.1856A>G, NM_001350503.2:c.1856A>G, NM_001350503.1:c.1856A>G, NM_001134831.2:c.1856A>G, NM_001134831.1:c.1856A>G, NM_001350504.2:c.1856A>G, NM_001350504.1:c.1856A>G, NM_001134830.2:c.1856A>G, NM_001134830.1:c.1856A>G, NM_001134832.2:c.1856A>G, NM_001134832.1:c.1856A>G, XM_011535910.4:c.1856A>G, XM_011535910.3:c.1856A>G, XM_011535910.2:c.1856A>G, XM_011535910.1:c.1856A>G, XM_011535911.4:c.1856A>G, XM_011535911.3:c.1856A>G, XM_011535911.2:c.1856A>G, XM_011535911.1:c.1856A>G, XR_001743480.3:n.2215A>G, XR_001743480.2:n.2246A>G, XR_001743480.1:n.2057A>G, XM_017010979.3:c.1856A>G, XM_017010979.2:c.1856A>G, XM_017010979.1:c.1856A>G, XM_017010984.3:c.1856A>G, XM_017010984.2:c.1856A>G, XM_017010984.1:c.1856A>G, XM_024446480.2:c.1856A>G, XM_024446480.1:c.1856A>G, XM_047418942.1:c.1856A>G, XM_047418943.1:c.1856A>G, XM_047418939.1:c.1856A>G, XM_047418941.1:c.1856A>G, XM_047418946.1:c.1856A>G, XM_047418940.1:c.1856A>G, XR_007059277.1:n.2215A>G, XR_007059276.1:n.2068A>G, XM_047418944.1:c.1856A>G, XM_047418945.1:c.1856A>G, XR_007059278.1:n.2215A>G, NP_060121.3:p.His619Arg, NP_001337432.1:p.His619Arg, NP_001128303.1:p.His619Arg, NP_001337433.1:p.His619Arg, NP_001128302.1:p.His619Arg, NP_001128304.1:p.His619Arg, XP_011534212.1:p.His619Arg, XP_011534213.1:p.His619Arg, XP_016866468.1:p.His619Arg, XP_016866473.1:p.His619Arg, XP_024302248.1:p.His619Arg, XP_047274898.1:p.His619Arg, XP_047274899.1:p.His619Arg, XP_047274895.1:p.His619Arg, XP_047274897.1:p.His619Arg, XP_047274902.1:p.His619Arg, XP_047274896.1:p.His619Arg, XP_047274900.1:p.His619Arg, XP_047274901.1:p.His619Arg

                                  17.

                                  rs1472405403 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    6:135427251 (GRCh38)
                                    6:135748389 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:135427250:A:C
                                    Gene:
                                    AHI1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000111/1 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.135427251A>C, NC_000006.11:g.135748389A>C, NG_008643.2:g.75515T>G, NM_017651.5:c.2680T>G, NM_017651.4:c.2680T>G, NM_001350503.2:c.2680T>G, NM_001350503.1:c.2680T>G, NM_001134831.2:c.2680T>G, NM_001134831.1:c.2680T>G, NM_001350504.2:c.2680T>G, NM_001350504.1:c.2680T>G, NM_001134830.2:c.2680T>G, NM_001134830.1:c.2680T>G, NM_001134832.2:c.2680T>G, NM_001134832.1:c.2680T>G, XM_011535910.4:c.2680T>G, XM_011535910.3:c.2680T>G, XM_011535910.2:c.2680T>G, XM_011535910.1:c.2680T>G, XM_011535911.4:c.2680T>G, XM_011535911.3:c.2680T>G, XM_011535911.2:c.2680T>G, XM_011535911.1:c.2680T>G, XR_001743480.3:n.3039T>G, XR_001743480.2:n.3070T>G, XR_001743480.1:n.2881T>G, XM_017010979.3:c.2680T>G, XM_017010979.2:c.2680T>G, XM_017010979.1:c.2680T>G, XM_017010984.3:c.2680T>G, XM_017010984.2:c.2680T>G, XM_017010984.1:c.2680T>G, XM_024446480.2:c.2680T>G, XM_024446480.1:c.2680T>G, XM_047418942.1:c.2680T>G, XM_047418943.1:c.2680T>G, XM_047418939.1:c.2680T>G, XM_047418941.1:c.2680T>G, XM_047418946.1:c.2680T>G, XM_047418940.1:c.2680T>G, XR_007059277.1:n.3039T>G, XR_007059276.1:n.2892T>G, XM_047418944.1:c.2680T>G, XM_047418945.1:c.2680T>G, XR_007059278.1:n.2920T>G, NP_060121.3:p.Ser894Ala, NP_001337432.1:p.Ser894Ala, NP_001128303.1:p.Ser894Ala, NP_001337433.1:p.Ser894Ala, NP_001128302.1:p.Ser894Ala, NP_001128304.1:p.Ser894Ala, XP_011534212.1:p.Ser894Ala, XP_011534213.1:p.Ser894Ala, XP_016866468.1:p.Ser894Ala, XP_016866473.1:p.Ser894Ala, XP_024302248.1:p.Ser894Ala, XP_047274898.1:p.Ser894Ala, XP_047274899.1:p.Ser894Ala, XP_047274895.1:p.Ser894Ala, XP_047274897.1:p.Ser894Ala, XP_047274902.1:p.Ser894Ala, XP_047274896.1:p.Ser894Ala, XP_047274900.1:p.Ser894Ala, XP_047274901.1:p.Ser894Ala

                                    18.

                                    rs1471936362 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:135466083 (GRCh38)
                                      6:135787221 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:135466082:C:T
                                      Gene:
                                      AHI1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.135466083C>T, NC_000006.11:g.135787221C>T, NG_008643.2:g.36683G>A, NM_017651.5:c.480G>A, NM_017651.4:c.480G>A, NM_001350503.2:c.480G>A, NM_001350503.1:c.480G>A, NM_001134831.2:c.480G>A, NM_001134831.1:c.480G>A, NM_001350504.2:c.480G>A, NM_001350504.1:c.480G>A, NM_001134830.2:c.480G>A, NM_001134830.1:c.480G>A, NM_001134832.2:c.480G>A, NM_001134832.1:c.480G>A, XM_011535910.4:c.480G>A, XM_011535910.3:c.480G>A, XM_011535910.2:c.480G>A, XM_011535910.1:c.480G>A, XM_011535911.4:c.480G>A, XM_011535911.3:c.480G>A, XM_011535911.2:c.480G>A, XM_011535911.1:c.480G>A, XR_001743480.3:n.839G>A, XR_001743480.2:n.870G>A, XR_001743480.1:n.681G>A, XM_017010979.3:c.480G>A, XM_017010979.2:c.480G>A, XM_017010979.1:c.480G>A, XM_017010984.3:c.480G>A, XM_017010984.2:c.480G>A, XM_017010984.1:c.480G>A, XM_024446480.2:c.480G>A, XM_024446480.1:c.480G>A, XM_047418942.1:c.480G>A, XM_047418943.1:c.480G>A, XM_047418939.1:c.480G>A, XM_047418941.1:c.480G>A, XM_047418946.1:c.480G>A, XM_047418940.1:c.480G>A, XR_007059277.1:n.839G>A, XR_007059276.1:n.692G>A, XM_047418944.1:c.480G>A, XM_047418945.1:c.480G>A, XR_007059278.1:n.839G>A

                                      19.

                                      rs1471667222 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:135465868 (GRCh38)
                                        6:135787006 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:135465867:C:T
                                        Gene:
                                        AHI1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000006.12:g.135465868C>T, NC_000006.11:g.135787006C>T, NG_008643.2:g.36898G>A, NM_017651.5:c.695G>A, NM_017651.4:c.695G>A, NM_001350503.2:c.695G>A, NM_001350503.1:c.695G>A, NM_001134831.2:c.695G>A, NM_001134831.1:c.695G>A, NM_001350504.2:c.695G>A, NM_001350504.1:c.695G>A, NM_001134830.2:c.695G>A, NM_001134830.1:c.695G>A, NM_001134832.2:c.695G>A, NM_001134832.1:c.695G>A, XM_011535910.4:c.695G>A, XM_011535910.3:c.695G>A, XM_011535910.2:c.695G>A, XM_011535910.1:c.695G>A, XM_011535911.4:c.695G>A, XM_011535911.3:c.695G>A, XM_011535911.2:c.695G>A, XM_011535911.1:c.695G>A, XR_001743480.3:n.1054G>A, XR_001743480.2:n.1085G>A, XR_001743480.1:n.896G>A, XM_017010979.3:c.695G>A, XM_017010979.2:c.695G>A, XM_017010979.1:c.695G>A, XM_017010984.3:c.695G>A, XM_017010984.2:c.695G>A, XM_017010984.1:c.695G>A, XM_024446480.2:c.695G>A, XM_024446480.1:c.695G>A, XM_047418942.1:c.695G>A, XM_047418943.1:c.695G>A, XM_047418939.1:c.695G>A, XM_047418941.1:c.695G>A, XM_047418946.1:c.695G>A, XM_047418940.1:c.695G>A, XR_007059277.1:n.1054G>A, XR_007059276.1:n.907G>A, XM_047418944.1:c.695G>A, XM_047418945.1:c.695G>A, XR_007059278.1:n.1054G>A, NP_060121.3:p.Ser232Asn, NP_001337432.1:p.Ser232Asn, NP_001128303.1:p.Ser232Asn, NP_001337433.1:p.Ser232Asn, NP_001128302.1:p.Ser232Asn, NP_001128304.1:p.Ser232Asn, XP_011534212.1:p.Ser232Asn, XP_011534213.1:p.Ser232Asn, XP_016866468.1:p.Ser232Asn, XP_016866473.1:p.Ser232Asn, XP_024302248.1:p.Ser232Asn, XP_047274898.1:p.Ser232Asn, XP_047274899.1:p.Ser232Asn, XP_047274895.1:p.Ser232Asn, XP_047274897.1:p.Ser232Asn, XP_047274902.1:p.Ser232Asn, XP_047274896.1:p.Ser232Asn, XP_047274900.1:p.Ser232Asn, XP_047274901.1:p.Ser232Asn

                                        20.

                                        rs1469924477 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          6:135428759 (GRCh38)
                                          6:135749897 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:135428758:T:A
                                          Gene:
                                          AHI1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000006.12:g.135428759T>A, NC_000006.11:g.135749897T>A, NG_008643.2:g.74007A>T, NM_017651.5:c.2493A>T, NM_017651.4:c.2493A>T, NM_001350503.2:c.2493A>T, NM_001350503.1:c.2493A>T, NM_001134831.2:c.2493A>T, NM_001134831.1:c.2493A>T, NM_001350504.2:c.2493A>T, NM_001350504.1:c.2493A>T, NM_001134830.2:c.2493A>T, NM_001134830.1:c.2493A>T, NM_001134832.2:c.2493A>T, NM_001134832.1:c.2493A>T, XM_011535910.4:c.2493A>T, XM_011535910.3:c.2493A>T, XM_011535910.2:c.2493A>T, XM_011535910.1:c.2493A>T, XM_011535911.4:c.2493A>T, XM_011535911.3:c.2493A>T, XM_011535911.2:c.2493A>T, XM_011535911.1:c.2493A>T, XR_001743480.3:n.2852A>T, XR_001743480.2:n.2883A>T, XR_001743480.1:n.2694A>T, XM_017010979.3:c.2493A>T, XM_017010979.2:c.2493A>T, XM_017010979.1:c.2493A>T, XM_017010984.3:c.2493A>T, XM_017010984.2:c.2493A>T, XM_017010984.1:c.2493A>T, XM_024446480.2:c.2493A>T, XM_024446480.1:c.2493A>T, XM_047418942.1:c.2493A>T, XM_047418943.1:c.2493A>T, XM_047418939.1:c.2493A>T, XM_047418941.1:c.2493A>T, XM_047418946.1:c.2493A>T, XM_047418940.1:c.2493A>T, XR_007059277.1:n.2852A>T, XR_007059276.1:n.2705A>T, XM_047418944.1:c.2493A>T, XM_047418945.1:c.2493A>T, XR_007059278.1:n.2733A>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...