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Items: 1 to 20 of 578

1.

rs1489529015 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:42495102 (GRCh38)
    17:40647120 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42495101:C:T
    Gene:
    ATP6V0A1 (Varview), MIR548AT (Varview)
    Functional Consequence:
    coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000017.11:g.42495102C>T, NC_000017.10:g.40647120C>T, NG_047037.1:g.41259C>T, NM_005177.5:c.1383C>T, NM_005177.4:c.1383C>T, NM_005177.3:c.1383C>T, NM_001130020.3:c.1404C>T, NM_001130020.2:c.1404C>T, NM_001130020.1:c.1404C>T, NM_001130021.3:c.1383C>T, NM_001130021.2:c.1383C>T, NM_001130021.1:c.1383C>T, NM_001378530.1:c.1506C>T, NM_001378531.1:c.1527C>T, NM_001378532.1:c.1527C>T, NM_001378533.1:c.1506C>T, NM_001378551.1:c.1506C>T, NM_001378534.1:c.1404C>T, NM_001378535.1:c.1383C>T, NM_001378522.1:c.1404C>T, NM_001378552.1:c.1506C>T, NM_001378523.1:c.1404C>T, NM_001378536.1:c.1275C>T, NM_001378550.1:c.1275C>T, NM_001378537.1:c.1383C>T, NM_001378538.1:c.1254C>T, NM_001378540.1:c.1254C>T, NM_001378539.1:c.1404C>T, NM_001378543.1:c.1224C>T, NM_001378549.1:c.1203C>T, NM_001378541.1:c.1404C>T, NM_001378542.1:c.1383C>T, NM_001378544.1:c.1383C>T, NM_001378545.1:c.1173C>T, NM_001378546.1:c.1170C>T, NM_001378554.1:c.1173C>T, NM_001378547.1:c.1170C>T, NM_001378557.1:c.1383C>T, NM_001378556.1:c.1275C>T, XR_007065303.1:n.1537C>T, XR_007065304.1:n.1537C>T, XR_007065305.1:n.1516C>T, XR_007065306.1:n.1537C>T, XR_007065307.1:n.1516C>T, NM_001378553.1:c.1224C>T, NM_001378555.1:c.1173C>T, XM_047436305.1:c.1404C>T, XM_047436304.1:c.1404C>T

    2.

    rs1486679169 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:42514399 (GRCh38)
      17:40666417 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42514398:G:A
      Gene:
      ATP6V0A1 (Varview), MIR5010 (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      A=0.000035/1 (TOMMO)
      HGVS:
      NC_000017.11:g.42514399G>A, NC_000017.10:g.40666417G>A, NG_047037.1:g.60556G>A, NM_005177.5:c.2341G>A, NM_005177.4:c.2341G>A, NM_005177.3:c.2341G>A, NM_001130020.3:c.2362G>A, NM_001130020.2:c.2362G>A, NM_001130020.1:c.2362G>A, NM_001130021.3:c.2359G>A, NM_001130021.2:c.2359G>A, NM_001130021.1:c.2359G>A, NM_001378530.1:c.2557G>A, NM_001378531.1:c.2503G>A, NM_001378532.1:c.2485G>A, NM_001378533.1:c.2482G>A, NM_001378551.1:c.2464G>A, NM_001378534.1:c.2455G>A, NM_001378535.1:c.2434G>A, NM_001378522.1:c.2380G>A, NM_001378523.1:c.2254G>A, NM_001378536.1:c.2251G>A, NM_001378550.1:c.2233G>A, NM_001378537.1:c.2233G>A, NM_001378538.1:c.2230G>A, NM_001378540.1:c.2212G>A, NM_001378543.1:c.2182G>A, NM_001378549.1:c.2179G>A, NM_001378545.1:c.2149G>A, NM_001378546.1:c.2146G>A, NM_001378554.1:c.2131G>A, NM_001378547.1:c.2128G>A, NM_001378548.1:c.2113G>A, XR_007065303.1:n.2513G>A, XR_007065304.1:n.2495G>A, XR_007065305.1:n.2474G>A, XR_007065306.1:n.2387G>A, XR_007065307.1:n.2366G>A, NM_001378553.1:c.2182G>A, NM_001378555.1:c.2131G>A, XM_047436304.1:c.2362G>A, NP_005168.2:p.Val781Met, NP_001123492.1:p.Val788Met, NP_001123493.1:p.Val787Met, NP_001365459.1:p.Val853Met, NP_001365460.1:p.Val835Met, NP_001365461.1:p.Val829Met, NP_001365462.1:p.Val828Met, NP_001365480.1:p.Val822Met, NP_001365463.1:p.Val819Met, NP_001365464.1:p.Val812Met, NP_001365451.1:p.Val794Met, NP_001365452.1:p.Val752Met, NP_001365465.1:p.Val751Met, NP_001365479.1:p.Val745Met, NP_001365466.1:p.Val745Met, NP_001365467.1:p.Val744Met, NP_001365469.1:p.Val738Met, NP_001365472.1:p.Val728Met, NP_001365478.1:p.Val727Met, NP_001365474.1:p.Val717Met, NP_001365475.1:p.Val716Met, NP_001365483.1:p.Val711Met, NP_001365476.1:p.Val710Met, NP_001365477.1:p.Val705Met, XP_047292260.1:p.Val788Met

      3.

      rs1486149518 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:42490522 (GRCh38)
        17:40642540 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42490521:C:T
        Gene:
        ATP6V0A1 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000012/3 (GnomAD_exomes)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000017.11:g.42490522C>T, NC_000017.10:g.40642540C>T, NG_047037.1:g.36679C>T, NM_005177.5:c.1059C>T, NM_005177.4:c.1059C>T, NM_005177.3:c.1059C>T, NM_001130020.3:c.1080C>T, NM_001130020.2:c.1080C>T, NM_001130020.1:c.1080C>T, NM_001130021.3:c.1059C>T, NM_001130021.2:c.1059C>T, NM_001130021.1:c.1059C>T, NM_001378530.1:c.1182C>T, NM_001378531.1:c.1203C>T, NM_001378532.1:c.1203C>T, NM_001378533.1:c.1182C>T, NM_001378551.1:c.1182C>T, NM_001378534.1:c.1080C>T, NM_001378535.1:c.1059C>T, NM_001378522.1:c.1080C>T, NM_001378552.1:c.1182C>T, NM_001378523.1:c.1080C>T, NM_001378536.1:c.951C>T, NM_001378550.1:c.951C>T, NM_001378537.1:c.1059C>T, NM_001378538.1:c.930C>T, NM_001378540.1:c.930C>T, NM_001378539.1:c.1080C>T, NM_001378543.1:c.900C>T, NM_001378549.1:c.879C>T, NM_001378541.1:c.1080C>T, NM_001378542.1:c.1059C>T, NM_001378544.1:c.1059C>T, NM_001378545.1:c.849C>T, NM_001378546.1:c.846C>T, NM_001378554.1:c.849C>T, NM_001378547.1:c.846C>T, NM_001378548.1:c.1059C>T, NM_001378557.1:c.1059C>T, NM_001378556.1:c.951C>T, XR_007065303.1:n.1213C>T, XR_007065304.1:n.1213C>T, XR_007065305.1:n.1192C>T, XR_007065306.1:n.1213C>T, XR_007065307.1:n.1192C>T, NM_001378553.1:c.900C>T, NM_001378555.1:c.849C>T, XM_047436305.1:c.1080C>T, XM_047436304.1:c.1080C>T

        4.

        rs1485096625 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:42478541 (GRCh38)
          17:40630559 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42478540:G:A
          Gene:
          ATP6V0A1 (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.42478541G>A, NC_000017.10:g.40630559G>A, NG_047037.1:g.24698G>A, NM_005177.5:c.585G>A, NM_005177.4:c.585G>A, NM_005177.3:c.585G>A, NM_001130020.3:c.606G>A, NM_001130020.2:c.606G>A, NM_001130020.1:c.606G>A, NM_001130021.3:c.585G>A, NM_001130021.2:c.585G>A, NM_001130021.1:c.585G>A, NM_001378530.1:c.585G>A, NM_001378531.1:c.606G>A, NM_001378532.1:c.606G>A, NM_001378533.1:c.585G>A, NM_001378551.1:c.585G>A, NM_001378534.1:c.606G>A, NM_001378535.1:c.585G>A, NM_001378522.1:c.606G>A, NM_001378552.1:c.585G>A, NM_001378523.1:c.606G>A, NM_001378536.1:c.477G>A, NM_001378550.1:c.477G>A, NM_001378537.1:c.585G>A, NM_001378538.1:c.456G>A, NM_001378540.1:c.456G>A, NM_001378539.1:c.606G>A, NM_001378543.1:c.426G>A, NM_001378549.1:c.405G>A, NM_001378541.1:c.606G>A, NM_001378542.1:c.585G>A, NM_001378544.1:c.585G>A, NM_001378546.1:c.585G>A, NM_001378547.1:c.585G>A, NM_001378548.1:c.585G>A, NM_001378557.1:c.585G>A, NM_001378556.1:c.477G>A, XR_007065303.1:n.739G>A, XR_007065304.1:n.739G>A, XR_007065305.1:n.718G>A, XR_007065306.1:n.739G>A, XR_007065307.1:n.718G>A, NM_001378553.1:c.426G>A, XM_047436305.1:c.606G>A, XM_047436304.1:c.606G>A

          5.

          rs1484583299 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:42494377 (GRCh38)
            17:40646395 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42494376:G:A
            Gene:
            ATP6V0A1 (Varview), MIR548AT (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000017.11:g.42494377G>A, NC_000017.10:g.40646395G>A, NG_047037.1:g.40534G>A, NM_005177.5:c.1218G>A, NM_005177.4:c.1218G>A, NM_005177.3:c.1218G>A, NM_001130020.3:c.1239G>A, NM_001130020.2:c.1239G>A, NM_001130020.1:c.1239G>A, NM_001130021.3:c.1218G>A, NM_001130021.2:c.1218G>A, NM_001130021.1:c.1218G>A, NM_001378530.1:c.1341G>A, NM_001378531.1:c.1362G>A, NM_001378532.1:c.1362G>A, NM_001378533.1:c.1341G>A, NM_001378551.1:c.1341G>A, NM_001378534.1:c.1239G>A, NM_001378535.1:c.1218G>A, NM_001378522.1:c.1239G>A, NM_001378552.1:c.1341G>A, NM_001378523.1:c.1239G>A, NM_001378536.1:c.1110G>A, NM_001378550.1:c.1110G>A, NM_001378537.1:c.1218G>A, NM_001378538.1:c.1089G>A, NM_001378540.1:c.1089G>A, NM_001378539.1:c.1239G>A, NM_001378543.1:c.1059G>A, NM_001378549.1:c.1038G>A, NM_001378541.1:c.1239G>A, NM_001378542.1:c.1218G>A, NM_001378544.1:c.1218G>A, NM_001378545.1:c.1008G>A, NM_001378546.1:c.1005G>A, NM_001378554.1:c.1008G>A, NM_001378547.1:c.1005G>A, NM_001378548.1:c.1218G>A, NM_001378557.1:c.1218G>A, NM_001378556.1:c.1110G>A, XR_007065303.1:n.1372G>A, XR_007065304.1:n.1372G>A, XR_007065305.1:n.1351G>A, XR_007065306.1:n.1372G>A, XR_007065307.1:n.1351G>A, NM_001378553.1:c.1059G>A, NM_001378555.1:c.1008G>A, XM_047436305.1:c.1239G>A, XM_047436304.1:c.1239G>A, NP_005168.2:p.Met406Ile, NP_001123492.1:p.Met413Ile, NP_001123493.1:p.Met406Ile, NP_001365459.1:p.Met447Ile, NP_001365460.1:p.Met454Ile, NP_001365461.1:p.Met454Ile, NP_001365462.1:p.Met447Ile, NP_001365480.1:p.Met447Ile, NP_001365463.1:p.Met413Ile, NP_001365464.1:p.Met406Ile, NP_001365451.1:p.Met413Ile, NP_001365481.1:p.Met447Ile, NP_001365452.1:p.Met413Ile, NP_001365465.1:p.Met370Ile, NP_001365479.1:p.Met370Ile, NP_001365466.1:p.Met406Ile, NP_001365467.1:p.Met363Ile, NP_001365469.1:p.Met363Ile, NP_001365468.1:p.Met413Ile, NP_001365472.1:p.Met353Ile, NP_001365478.1:p.Met346Ile, NP_001365470.1:p.Met413Ile, NP_001365471.1:p.Met406Ile, NP_001365473.1:p.Met406Ile, NP_001365474.1:p.Met336Ile, NP_001365475.1:p.Met335Ile, NP_001365483.1:p.Met336Ile, NP_001365476.1:p.Met335Ile, NP_001365477.1:p.Met406Ile, NP_001365486.1:p.Met406Ile, NP_001365485.1:p.Met370Ile, XP_047292261.1:p.Met413Ile, XP_047292260.1:p.Met413Ile

            6.

            rs1483219729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:42513891 (GRCh38)
              17:40665909 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42513890:G:A
              Gene:
              ATP6V0A1 (Varview), MIR5010 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_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_000017.11:g.42513891G>A, NC_000017.10:g.40665909G>A, NG_047037.1:g.60048G>A, NM_005177.5:c.2143G>A, NM_005177.4:c.2143G>A, NM_005177.3:c.2143G>A, NM_001130020.3:c.2164G>A, NM_001130020.2:c.2164G>A, NM_001130020.1:c.2164G>A, NM_001130021.3:c.2161G>A, NM_001130021.2:c.2161G>A, NM_001130021.1:c.2161G>A, NM_001378530.1:c.2359G>A, NM_001378531.1:c.2305G>A, NM_001378532.1:c.2287G>A, NM_001378533.1:c.2284G>A, NM_001378551.1:c.2266G>A, NM_001378534.1:c.2257G>A, NM_001378535.1:c.2236G>A, NM_001378522.1:c.2182G>A, NM_001378552.1:c.2266G>A, NM_001378523.1:c.2056G>A, NM_001378536.1:c.2053G>A, NM_001378550.1:c.2035G>A, NM_001378537.1:c.2035G>A, NM_001378538.1:c.2032G>A, NM_001378540.1:c.2014G>A, NM_001378539.1:c.2182G>A, NM_001378543.1:c.1984G>A, NM_001378549.1:c.1981G>A, NM_001378541.1:c.2164G>A, NM_001378542.1:c.2161G>A, NM_001378544.1:c.2143G>A, NM_001378545.1:c.1951G>A, NM_001378546.1:c.1948G>A, NM_001378554.1:c.1933G>A, NM_001378547.1:c.1930G>A, NM_001378548.1:c.1915G>A, NM_001378557.1:c.2035G>A, NM_001378556.1:c.2035G>A, XR_007065303.1:n.2315G>A, XR_007065304.1:n.2297G>A, XR_007065305.1:n.2276G>A, XR_007065306.1:n.2189G>A, XR_007065307.1:n.2168G>A, NM_001378553.1:c.1984G>A, NM_001378555.1:c.1933G>A, XM_047436305.1:c.2056G>A, XM_047436304.1:c.2164G>A, NP_005168.2:p.Ala715Thr, NP_001123492.1:p.Ala722Thr, NP_001123493.1:p.Ala721Thr, NP_001365459.1:p.Ala787Thr, NP_001365460.1:p.Ala769Thr, NP_001365461.1:p.Ala763Thr, NP_001365462.1:p.Ala762Thr, NP_001365480.1:p.Ala756Thr, NP_001365463.1:p.Ala753Thr, NP_001365464.1:p.Ala746Thr, NP_001365451.1:p.Ala728Thr, NP_001365481.1:p.Ala756Thr, NP_001365452.1:p.Ala686Thr, NP_001365465.1:p.Ala685Thr, NP_001365479.1:p.Ala679Thr, NP_001365466.1:p.Ala679Thr, NP_001365467.1:p.Ala678Thr, NP_001365469.1:p.Ala672Thr, NP_001365468.1:p.Ala728Thr, NP_001365472.1:p.Ala662Thr, NP_001365478.1:p.Ala661Thr, NP_001365470.1:p.Ala722Thr, NP_001365471.1:p.Ala721Thr, NP_001365473.1:p.Ala715Thr, NP_001365474.1:p.Ala651Thr, NP_001365475.1:p.Ala650Thr, NP_001365483.1:p.Ala645Thr, NP_001365476.1:p.Ala644Thr, NP_001365477.1:p.Ala639Thr, NP_001365486.1:p.Ala679Thr, NP_001365485.1:p.Ala679Thr, XP_047292261.1:p.Ala686Thr, XP_047292260.1:p.Ala722Thr

              7.

              rs1482791268 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:42500766 (GRCh38)
                17:40652784 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42500765:C:T
                Gene:
                ATP6V0A1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000026/7 (TOPMED)
                HGVS:
                NC_000017.11:g.42500766C>T, NC_000017.10:g.40652784C>T, NG_047037.1:g.46923C>T, NM_005177.5:c.1739C>T, NM_005177.4:c.1739C>T, NM_005177.3:c.1739C>T, NM_001130020.3:c.1760C>T, NM_001130020.2:c.1760C>T, NM_001130020.1:c.1760C>T, NM_001130021.3:c.1739C>T, NM_001130021.2:c.1739C>T, NM_001130021.1:c.1739C>T, NM_001378530.1:c.1862C>T, NM_001378531.1:c.1883C>T, NM_001378532.1:c.1883C>T, NM_001378533.1:c.1862C>T, NM_001378551.1:c.1862C>T, NM_001378534.1:c.1760C>T, NM_001378535.1:c.1739C>T, NM_001378522.1:c.1760C>T, NM_001378552.1:c.1862C>T, NM_001378523.1:c.1760C>T, NM_001378536.1:c.1631C>T, NM_001378550.1:c.1631C>T, NM_001378537.1:c.1739C>T, NM_001378538.1:c.1610C>T, NM_001378540.1:c.1610C>T, NM_001378539.1:c.1760C>T, NM_001378543.1:c.1580C>T, NM_001378549.1:c.1559C>T, NM_001378541.1:c.1760C>T, NM_001378542.1:c.1739C>T, NM_001378544.1:c.1739C>T, NM_001378545.1:c.1529C>T, NM_001378546.1:c.1526C>T, NM_001378554.1:c.1529C>T, NM_001378547.1:c.1526C>T, NM_001378548.1:c.1493C>T, NM_001378557.1:c.1739C>T, NM_001378556.1:c.1631C>T, XR_007065303.1:n.1893C>T, XR_007065304.1:n.1893C>T, XR_007065305.1:n.1872C>T, XR_007065306.1:n.1893C>T, XR_007065307.1:n.1872C>T, NM_001378553.1:c.1580C>T, NM_001378555.1:c.1529C>T, XM_047436305.1:c.1760C>T, XM_047436304.1:c.1760C>T, NP_005168.2:p.Thr580Ile, NP_001123492.1:p.Thr587Ile, NP_001123493.1:p.Thr580Ile, NP_001365459.1:p.Thr621Ile, NP_001365460.1:p.Thr628Ile, NP_001365461.1:p.Thr628Ile, NP_001365462.1:p.Thr621Ile, NP_001365480.1:p.Thr621Ile, NP_001365463.1:p.Thr587Ile, NP_001365464.1:p.Thr580Ile, NP_001365451.1:p.Thr587Ile, NP_001365481.1:p.Thr621Ile, NP_001365452.1:p.Thr587Ile, NP_001365465.1:p.Thr544Ile, NP_001365479.1:p.Thr544Ile, NP_001365466.1:p.Thr580Ile, NP_001365467.1:p.Thr537Ile, NP_001365469.1:p.Thr537Ile, NP_001365468.1:p.Thr587Ile, NP_001365472.1:p.Thr527Ile, NP_001365478.1:p.Thr520Ile, NP_001365470.1:p.Thr587Ile, NP_001365471.1:p.Thr580Ile, NP_001365473.1:p.Thr580Ile, NP_001365474.1:p.Thr510Ile, NP_001365475.1:p.Thr509Ile, NP_001365483.1:p.Thr510Ile, NP_001365476.1:p.Thr509Ile, NP_001365477.1:p.Thr498Ile, NP_001365486.1:p.Thr580Ile, NP_001365485.1:p.Thr544Ile, XP_047292261.1:p.Thr587Ile, XP_047292260.1:p.Thr587Ile

                8.

                rs1482098212 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:42483043 (GRCh38)
                  17:40635061 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42483042:G:A
                  Gene:
                  ATP6V0A1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000017.11:g.42483043G>A, NC_000017.10:g.40635061G>A, NG_047037.1:g.29200G>A, NM_005177.5:c.722G>A, NM_005177.4:c.722G>A, NM_005177.3:c.722G>A, NM_001130020.3:c.743G>A, NM_001130020.2:c.743G>A, NM_001130020.1:c.743G>A, NM_001130021.3:c.722G>A, NM_001130021.2:c.722G>A, NM_001130021.1:c.722G>A, NM_001378530.1:c.845G>A, NM_001378531.1:c.866G>A, NM_001378532.1:c.866G>A, NM_001378533.1:c.845G>A, NM_001378551.1:c.845G>A, NM_001378534.1:c.743G>A, NM_001378535.1:c.722G>A, NM_001378522.1:c.743G>A, NM_001378552.1:c.845G>A, NM_001378523.1:c.743G>A, NM_001378536.1:c.614G>A, NM_001378550.1:c.614G>A, NM_001378537.1:c.722G>A, NM_001378538.1:c.593G>A, NM_001378540.1:c.593G>A, NM_001378539.1:c.743G>A, NM_001378543.1:c.563G>A, NM_001378549.1:c.542G>A, NM_001378541.1:c.743G>A, NM_001378542.1:c.722G>A, NM_001378544.1:c.722G>A, NM_001378545.1:c.512G>A, NM_001378546.1:c.722G>A, NM_001378554.1:c.512G>A, NM_001378547.1:c.722G>A, NM_001378548.1:c.722G>A, NM_001378557.1:c.722G>A, NM_001378556.1:c.614G>A, XR_007065303.1:n.876G>A, XR_007065304.1:n.876G>A, XR_007065305.1:n.855G>A, XR_007065306.1:n.876G>A, XR_007065307.1:n.855G>A, NM_001378553.1:c.563G>A, NM_001378555.1:c.512G>A, XM_047436305.1:c.743G>A, XM_047436304.1:c.743G>A, NP_005168.2:p.Arg241Gln, NP_001123492.1:p.Arg248Gln, NP_001123493.1:p.Arg241Gln, NP_001365459.1:p.Arg282Gln, NP_001365460.1:p.Arg289Gln, NP_001365461.1:p.Arg289Gln, NP_001365462.1:p.Arg282Gln, NP_001365480.1:p.Arg282Gln, NP_001365463.1:p.Arg248Gln, NP_001365464.1:p.Arg241Gln, NP_001365451.1:p.Arg248Gln, NP_001365481.1:p.Arg282Gln, NP_001365452.1:p.Arg248Gln, NP_001365465.1:p.Arg205Gln, NP_001365479.1:p.Arg205Gln, NP_001365466.1:p.Arg241Gln, NP_001365467.1:p.Arg198Gln, NP_001365469.1:p.Arg198Gln, NP_001365468.1:p.Arg248Gln, NP_001365472.1:p.Arg188Gln, NP_001365478.1:p.Arg181Gln, NP_001365470.1:p.Arg248Gln, NP_001365471.1:p.Arg241Gln, NP_001365473.1:p.Arg241Gln, NP_001365474.1:p.Arg171Gln, NP_001365475.1:p.Arg241Gln, NP_001365483.1:p.Arg171Gln, NP_001365476.1:p.Arg241Gln, NP_001365477.1:p.Arg241Gln, NP_001365486.1:p.Arg241Gln, NP_001365485.1:p.Arg205Gln, XP_047292261.1:p.Arg248Gln, XP_047292260.1:p.Arg248Gln

                  9.

                  rs1480499797 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    17:42501302 (GRCh38)
                    17:40653320 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42501301:T:G
                    Gene:
                    ATP6V0A1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.42501302T>G, NC_000017.10:g.40653320T>G, NG_047037.1:g.47459T>G, NM_005177.5:c.2002T>G, NM_005177.4:c.2002T>G, NM_005177.3:c.2002T>G, NM_001130020.3:c.2023T>G, NM_001130020.2:c.2023T>G, NM_001130020.1:c.2023T>G, NM_001130021.3:c.2002T>G, NM_001130021.2:c.2002T>G, NM_001130021.1:c.2002T>G, NM_001378530.1:c.2125T>G, NM_001378531.1:c.2146T>G, NM_001378532.1:c.2146T>G, NM_001378533.1:c.2125T>G, NM_001378551.1:c.2125T>G, NM_001378534.1:c.2023T>G, NM_001378535.1:c.2002T>G, NM_001378522.1:c.2023T>G, NM_001378552.1:c.2125T>G, NM_001378523.1:c.2023T>G, NM_001378536.1:c.1894T>G, NM_001378550.1:c.1894T>G, NM_001378537.1:c.2002T>G, NM_001378538.1:c.1873T>G, NM_001378540.1:c.1873T>G, NM_001378539.1:c.2023T>G, NM_001378543.1:c.1843T>G, NM_001378549.1:c.1822T>G, NM_001378541.1:c.2023T>G, NM_001378542.1:c.2002T>G, NM_001378544.1:c.2002T>G, NM_001378545.1:c.1792T>G, NM_001378546.1:c.1789T>G, NM_001378554.1:c.1792T>G, NM_001378547.1:c.1789T>G, NM_001378548.1:c.1756T>G, NM_001378557.1:c.2002T>G, NM_001378556.1:c.1894T>G, XR_007065303.1:n.2156T>G, XR_007065304.1:n.2156T>G, XR_007065305.1:n.2135T>G, XR_007065306.1:n.2156T>G, XR_007065307.1:n.2135T>G, NM_001378553.1:c.1843T>G, NM_001378555.1:c.1792T>G, XM_047436305.1:c.2023T>G, XM_047436304.1:c.2023T>G, NP_005168.2:p.Leu668Val, NP_001123492.1:p.Leu675Val, NP_001123493.1:p.Leu668Val, NP_001365459.1:p.Leu709Val, NP_001365460.1:p.Leu716Val, NP_001365461.1:p.Leu716Val, NP_001365462.1:p.Leu709Val, NP_001365480.1:p.Leu709Val, NP_001365463.1:p.Leu675Val, NP_001365464.1:p.Leu668Val, NP_001365451.1:p.Leu675Val, NP_001365481.1:p.Leu709Val, NP_001365452.1:p.Leu675Val, NP_001365465.1:p.Leu632Val, NP_001365479.1:p.Leu632Val, NP_001365466.1:p.Leu668Val, NP_001365467.1:p.Leu625Val, NP_001365469.1:p.Leu625Val, NP_001365468.1:p.Leu675Val, NP_001365472.1:p.Leu615Val, NP_001365478.1:p.Leu608Val, NP_001365470.1:p.Leu675Val, NP_001365471.1:p.Leu668Val, NP_001365473.1:p.Leu668Val, NP_001365474.1:p.Leu598Val, NP_001365475.1:p.Leu597Val, NP_001365483.1:p.Leu598Val, NP_001365476.1:p.Leu597Val, NP_001365477.1:p.Leu586Val, NP_001365486.1:p.Leu668Val, NP_001365485.1:p.Leu632Val, XP_047292261.1:p.Leu675Val, XP_047292260.1:p.Leu675Val

                    10.

                    rs1480359299 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:42477717 (GRCh38)
                      17:40629735 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42477716:G:A
                      Gene:
                      ATP6V0A1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.42477717G>A, NC_000017.10:g.40629735G>A, NG_047037.1:g.23874G>A, NM_005177.5:c.481G>A, NM_005177.4:c.481G>A, NM_005177.3:c.481G>A, NM_001130020.3:c.502G>A, NM_001130020.2:c.502G>A, NM_001130020.1:c.502G>A, NM_001130021.3:c.481G>A, NM_001130021.2:c.481G>A, NM_001130021.1:c.481G>A, NM_001378530.1:c.481G>A, NM_001378531.1:c.502G>A, NM_001378532.1:c.502G>A, NM_001378533.1:c.481G>A, NM_001378551.1:c.481G>A, NM_001378534.1:c.502G>A, NM_001378535.1:c.481G>A, NM_001378522.1:c.502G>A, NM_001378552.1:c.481G>A, NM_001378523.1:c.502G>A, NM_001378536.1:c.373G>A, NM_001378550.1:c.373G>A, NM_001378537.1:c.481G>A, NM_001378538.1:c.352G>A, NM_001378540.1:c.352G>A, NM_001378539.1:c.502G>A, NM_001378543.1:c.322G>A, NM_001378549.1:c.301G>A, NM_001378541.1:c.502G>A, NM_001378542.1:c.481G>A, NM_001378544.1:c.481G>A, NM_001378546.1:c.481G>A, NM_001378547.1:c.481G>A, NM_001378548.1:c.481G>A, NM_001378557.1:c.481G>A, NM_001378556.1:c.373G>A, XR_007065303.1:n.635G>A, XR_007065304.1:n.635G>A, XR_007065305.1:n.614G>A, XR_007065306.1:n.635G>A, XR_007065307.1:n.614G>A, NM_001378553.1:c.322G>A, XM_047436305.1:c.502G>A, XM_047436304.1:c.502G>A, NP_005168.2:p.Gly161Arg, NP_001123492.1:p.Gly168Arg, NP_001123493.1:p.Gly161Arg, NP_001365459.1:p.Gly161Arg, NP_001365460.1:p.Gly168Arg, NP_001365461.1:p.Gly168Arg, NP_001365462.1:p.Gly161Arg, NP_001365480.1:p.Gly161Arg, NP_001365463.1:p.Gly168Arg, NP_001365464.1:p.Gly161Arg, NP_001365451.1:p.Gly168Arg, NP_001365481.1:p.Gly161Arg, NP_001365452.1:p.Gly168Arg, NP_001365465.1:p.Gly125Arg, NP_001365479.1:p.Gly125Arg, NP_001365466.1:p.Gly161Arg, NP_001365467.1:p.Gly118Arg, NP_001365469.1:p.Gly118Arg, NP_001365468.1:p.Gly168Arg, NP_001365472.1:p.Gly108Arg, NP_001365478.1:p.Gly101Arg, NP_001365470.1:p.Gly168Arg, NP_001365471.1:p.Gly161Arg, NP_001365473.1:p.Gly161Arg, NP_001365475.1:p.Gly161Arg, NP_001365476.1:p.Gly161Arg, NP_001365477.1:p.Gly161Arg, NP_001365486.1:p.Gly161Arg, NP_001365485.1:p.Gly125Arg, XP_047292261.1:p.Gly168Arg, XP_047292260.1:p.Gly168Arg

                      11.

                      rs1479971775 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:42507613 (GRCh38)
                        17:40659631 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42507612:G:A
                        Gene:
                        ATP6V0A1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.42507613G>A, NC_000017.10:g.40659631G>A, NG_047037.1:g.53770G>A, NM_005177.5:c.2098G>A, NM_005177.4:c.2098G>A, NM_005177.3:c.2098G>A, NM_001130020.3:c.2119G>A, NM_001130020.2:c.2119G>A, NM_001130020.1:c.2119G>A, NM_001130021.3:c.2098G>A, NM_001130021.2:c.2098G>A, NM_001130021.1:c.2098G>A, NM_001378530.1:c.2296G>A, NM_001378531.1:c.2242G>A, NM_001378532.1:c.2242G>A, NM_001378533.1:c.2221G>A, NM_001378551.1:c.2221G>A, NM_001378534.1:c.2194G>A, NM_001378535.1:c.2173G>A, NM_001378522.1:c.2119G>A, NM_001378552.1:c.2221G>A, NM_001378536.1:c.1990G>A, NM_001378550.1:c.1990G>A, NM_001378538.1:c.1969G>A, NM_001378540.1:c.1969G>A, NM_001378539.1:c.2119G>A, NM_001378543.1:c.1939G>A, NM_001378549.1:c.1918G>A, NM_001378541.1:c.2119G>A, NM_001378542.1:c.2098G>A, NM_001378544.1:c.2098G>A, NM_001378545.1:c.1888G>A, NM_001378546.1:c.1885G>A, NM_001378554.1:c.1888G>A, NM_001378547.1:c.1885G>A, NM_001378548.1:c.1852G>A, NM_001378556.1:c.1990G>A, XR_007065303.1:n.2252G>A, XR_007065304.1:n.2252G>A, XR_007065305.1:n.2231G>A, NM_001378553.1:c.1939G>A, NM_001378555.1:c.1888G>A, XM_047436304.1:c.2119G>A, NP_005168.2:p.Glu700Lys, NP_001123492.1:p.Glu707Lys, NP_001123493.1:p.Glu700Lys, NP_001365459.1:p.Glu766Lys, NP_001365460.1:p.Glu748Lys, NP_001365461.1:p.Glu748Lys, NP_001365462.1:p.Glu741Lys, NP_001365480.1:p.Glu741Lys, NP_001365463.1:p.Glu732Lys, NP_001365464.1:p.Glu725Lys, NP_001365451.1:p.Glu707Lys, NP_001365481.1:p.Glu741Lys, NP_001365465.1:p.Glu664Lys, NP_001365479.1:p.Glu664Lys, NP_001365467.1:p.Glu657Lys, NP_001365469.1:p.Glu657Lys, NP_001365468.1:p.Glu707Lys, NP_001365472.1:p.Glu647Lys, NP_001365478.1:p.Glu640Lys, NP_001365470.1:p.Glu707Lys, NP_001365471.1:p.Glu700Lys, NP_001365473.1:p.Glu700Lys, NP_001365474.1:p.Glu630Lys, NP_001365475.1:p.Glu629Lys, NP_001365483.1:p.Glu630Lys, NP_001365476.1:p.Glu629Lys, NP_001365477.1:p.Glu618Lys, NP_001365485.1:p.Glu664Lys, XP_047292260.1:p.Glu707Lys

                        12.

                        rs1479639804 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:42460957 (GRCh38)
                          17:40612975 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42460956:T:C
                          Gene:
                          ATP6V0A1 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000017.11:g.42460957T>C, NC_000017.10:g.40612975T>C, NG_047037.1:g.7114T>C, NM_005177.5:c.63T>C, NM_005177.4:c.63T>C, NM_005177.3:c.63T>C, NM_001130020.3:c.63T>C, NM_001130020.2:c.63T>C, NM_001130020.1:c.63T>C, NM_001130021.3:c.63T>C, NM_001130021.2:c.63T>C, NM_001130021.1:c.63T>C, NM_001378530.1:c.63T>C, NM_001378531.1:c.63T>C, NM_001378532.1:c.63T>C, NM_001378533.1:c.63T>C, NM_001378551.1:c.63T>C, NM_001378534.1:c.63T>C, NM_001378535.1:c.63T>C, NM_001378522.1:c.63T>C, NM_001378552.1:c.63T>C, NM_001378523.1:c.63T>C, NM_001378536.1:c.63T>C, NM_001378550.1:c.63T>C, NM_001378537.1:c.63T>C, NM_001378538.1:c.63T>C, NM_001378540.1:c.63T>C, NM_001378539.1:c.63T>C, NM_001378541.1:c.63T>C, NM_001378542.1:c.63T>C, NM_001378544.1:c.63T>C, NM_001378545.1:c.63T>C, NM_001378546.1:c.63T>C, NM_001378554.1:c.63T>C, NM_001378547.1:c.63T>C, NM_001378548.1:c.63T>C, NM_001378557.1:c.63T>C, NM_001378556.1:c.63T>C, XR_007065303.1:n.196T>C, XR_007065304.1:n.196T>C, XR_007065305.1:n.196T>C, XR_007065306.1:n.196T>C, XR_007065307.1:n.196T>C, NM_001378555.1:c.63T>C, XM_047436305.1:c.63T>C, XM_047436304.1:c.63T>C

                          13.

                          rs1478561540 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:42483041 (GRCh38)
                            17:40635059 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42483040:C:A
                            Gene:
                            ATP6V0A1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.42483041C>A, NC_000017.10:g.40635059C>A, NG_047037.1:g.29198C>A, NM_005177.5:c.720C>A, NM_005177.4:c.720C>A, NM_005177.3:c.720C>A, NM_001130020.3:c.741C>A, NM_001130020.2:c.741C>A, NM_001130020.1:c.741C>A, NM_001130021.3:c.720C>A, NM_001130021.2:c.720C>A, NM_001130021.1:c.720C>A, NM_001378530.1:c.843C>A, NM_001378531.1:c.864C>A, NM_001378532.1:c.864C>A, NM_001378533.1:c.843C>A, NM_001378551.1:c.843C>A, NM_001378534.1:c.741C>A, NM_001378535.1:c.720C>A, NM_001378522.1:c.741C>A, NM_001378552.1:c.843C>A, NM_001378523.1:c.741C>A, NM_001378536.1:c.612C>A, NM_001378550.1:c.612C>A, NM_001378537.1:c.720C>A, NM_001378538.1:c.591C>A, NM_001378540.1:c.591C>A, NM_001378539.1:c.741C>A, NM_001378543.1:c.561C>A, NM_001378549.1:c.540C>A, NM_001378541.1:c.741C>A, NM_001378542.1:c.720C>A, NM_001378544.1:c.720C>A, NM_001378545.1:c.510C>A, NM_001378546.1:c.720C>A, NM_001378554.1:c.510C>A, NM_001378547.1:c.720C>A, NM_001378548.1:c.720C>A, NM_001378557.1:c.720C>A, NM_001378556.1:c.612C>A, XR_007065303.1:n.874C>A, XR_007065304.1:n.874C>A, XR_007065305.1:n.853C>A, XR_007065306.1:n.874C>A, XR_007065307.1:n.853C>A, NM_001378553.1:c.561C>A, NM_001378555.1:c.510C>A, XM_047436305.1:c.741C>A, XM_047436304.1:c.741C>A, NP_005168.2:p.Phe240Leu, NP_001123492.1:p.Phe247Leu, NP_001123493.1:p.Phe240Leu, NP_001365459.1:p.Phe281Leu, NP_001365460.1:p.Phe288Leu, NP_001365461.1:p.Phe288Leu, NP_001365462.1:p.Phe281Leu, NP_001365480.1:p.Phe281Leu, NP_001365463.1:p.Phe247Leu, NP_001365464.1:p.Phe240Leu, NP_001365451.1:p.Phe247Leu, NP_001365481.1:p.Phe281Leu, NP_001365452.1:p.Phe247Leu, NP_001365465.1:p.Phe204Leu, NP_001365479.1:p.Phe204Leu, NP_001365466.1:p.Phe240Leu, NP_001365467.1:p.Phe197Leu, NP_001365469.1:p.Phe197Leu, NP_001365468.1:p.Phe247Leu, NP_001365472.1:p.Phe187Leu, NP_001365478.1:p.Phe180Leu, NP_001365470.1:p.Phe247Leu, NP_001365471.1:p.Phe240Leu, NP_001365473.1:p.Phe240Leu, NP_001365474.1:p.Phe170Leu, NP_001365475.1:p.Phe240Leu, NP_001365483.1:p.Phe170Leu, NP_001365476.1:p.Phe240Leu, NP_001365477.1:p.Phe240Leu, NP_001365486.1:p.Phe240Leu, NP_001365485.1:p.Phe204Leu, XP_047292261.1:p.Phe247Leu, XP_047292260.1:p.Phe247Leu

                            14.

                            rs1476032591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:42494337 (GRCh38)
                              17:40646355 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42494336:C:T
                              Gene:
                              ATP6V0A1 (Varview), MIR548AT (Varview)
                              Functional Consequence:
                              coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000015/4 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              NC_000017.11:g.42494337C>T, NC_000017.10:g.40646355C>T, NG_047037.1:g.40494C>T, NM_005177.5:c.1178C>T, NM_005177.4:c.1178C>T, NM_005177.3:c.1178C>T, NM_001130020.3:c.1199C>T, NM_001130020.2:c.1199C>T, NM_001130020.1:c.1199C>T, NM_001130021.3:c.1178C>T, NM_001130021.2:c.1178C>T, NM_001130021.1:c.1178C>T, NM_001378530.1:c.1301C>T, NM_001378531.1:c.1322C>T, NM_001378532.1:c.1322C>T, NM_001378533.1:c.1301C>T, NM_001378551.1:c.1301C>T, NM_001378534.1:c.1199C>T, NM_001378535.1:c.1178C>T, NM_001378522.1:c.1199C>T, NM_001378552.1:c.1301C>T, NM_001378523.1:c.1199C>T, NM_001378536.1:c.1070C>T, NM_001378550.1:c.1070C>T, NM_001378537.1:c.1178C>T, NM_001378538.1:c.1049C>T, NM_001378540.1:c.1049C>T, NM_001378539.1:c.1199C>T, NM_001378543.1:c.1019C>T, NM_001378549.1:c.998C>T, NM_001378541.1:c.1199C>T, NM_001378542.1:c.1178C>T, NM_001378544.1:c.1178C>T, NM_001378545.1:c.968C>T, NM_001378546.1:c.965C>T, NM_001378554.1:c.968C>T, NM_001378547.1:c.965C>T, NM_001378548.1:c.1178C>T, NM_001378557.1:c.1178C>T, NM_001378556.1:c.1070C>T, XR_007065303.1:n.1332C>T, XR_007065304.1:n.1332C>T, XR_007065305.1:n.1311C>T, XR_007065306.1:n.1332C>T, XR_007065307.1:n.1311C>T, NM_001378553.1:c.1019C>T, NM_001378555.1:c.968C>T, XM_047436305.1:c.1199C>T, XM_047436304.1:c.1199C>T, NP_005168.2:p.Pro393Leu, NP_001123492.1:p.Pro400Leu, NP_001123493.1:p.Pro393Leu, NP_001365459.1:p.Pro434Leu, NP_001365460.1:p.Pro441Leu, NP_001365461.1:p.Pro441Leu, NP_001365462.1:p.Pro434Leu, NP_001365480.1:p.Pro434Leu, NP_001365463.1:p.Pro400Leu, NP_001365464.1:p.Pro393Leu, NP_001365451.1:p.Pro400Leu, NP_001365481.1:p.Pro434Leu, NP_001365452.1:p.Pro400Leu, NP_001365465.1:p.Pro357Leu, NP_001365479.1:p.Pro357Leu, NP_001365466.1:p.Pro393Leu, NP_001365467.1:p.Pro350Leu, NP_001365469.1:p.Pro350Leu, NP_001365468.1:p.Pro400Leu, NP_001365472.1:p.Pro340Leu, NP_001365478.1:p.Pro333Leu, NP_001365470.1:p.Pro400Leu, NP_001365471.1:p.Pro393Leu, NP_001365473.1:p.Pro393Leu, NP_001365474.1:p.Pro323Leu, NP_001365475.1:p.Pro322Leu, NP_001365483.1:p.Pro323Leu, NP_001365476.1:p.Pro322Leu, NP_001365477.1:p.Pro393Leu, NP_001365486.1:p.Pro393Leu, NP_001365485.1:p.Pro357Leu, XP_047292261.1:p.Pro400Leu, XP_047292260.1:p.Pro400Leu

                              15.

                              rs1476012162 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:42480687 (GRCh38)
                                17:40632705 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42480686:T:C
                                Gene:
                                ATP6V0A1 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.42480687T>C, NC_000017.10:g.40632705T>C, NG_047037.1:g.26844T>C, NM_005177.5:c.654T>C, NM_005177.4:c.654T>C, NM_005177.3:c.654T>C, NM_001130020.3:c.675T>C, NM_001130020.2:c.675T>C, NM_001130020.1:c.675T>C, NM_001130021.3:c.654T>C, NM_001130021.2:c.654T>C, NM_001130021.1:c.654T>C, NM_001378530.1:c.777T>C, NM_001378531.1:c.798T>C, NM_001378532.1:c.798T>C, NM_001378533.1:c.777T>C, NM_001378551.1:c.777T>C, NM_001378534.1:c.675T>C, NM_001378535.1:c.654T>C, NM_001378522.1:c.675T>C, NM_001378552.1:c.777T>C, NM_001378523.1:c.675T>C, NM_001378536.1:c.546T>C, NM_001378550.1:c.546T>C, NM_001378537.1:c.654T>C, NM_001378538.1:c.525T>C, NM_001378540.1:c.525T>C, NM_001378539.1:c.675T>C, NM_001378543.1:c.495T>C, NM_001378549.1:c.474T>C, NM_001378541.1:c.675T>C, NM_001378542.1:c.654T>C, NM_001378544.1:c.654T>C, NM_001378545.1:c.444T>C, NM_001378546.1:c.654T>C, NM_001378554.1:c.444T>C, NM_001378547.1:c.654T>C, NM_001378548.1:c.654T>C, NM_001378557.1:c.654T>C, NM_001378556.1:c.546T>C, XR_007065303.1:n.808T>C, XR_007065304.1:n.808T>C, XR_007065305.1:n.787T>C, XR_007065306.1:n.808T>C, XR_007065307.1:n.787T>C, NM_001378553.1:c.495T>C, NM_001378555.1:c.444T>C, XM_047436305.1:c.675T>C, XM_047436304.1:c.675T>C

                                16.

                                rs1475772702 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:42480733 (GRCh38)
                                  17:40632751 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42480732:A:G
                                  Gene:
                                  ATP6V0A1 (Varview)
                                  Functional Consequence:
                                  non_coding_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_000017.11:g.42480733A>G, NC_000017.10:g.40632751A>G, NG_047037.1:g.26890A>G, NM_005177.5:c.700A>G, NM_005177.4:c.700A>G, NM_005177.3:c.700A>G, NM_001130020.3:c.721A>G, NM_001130020.2:c.721A>G, NM_001130020.1:c.721A>G, NM_001130021.3:c.700A>G, NM_001130021.2:c.700A>G, NM_001130021.1:c.700A>G, NM_001378530.1:c.823A>G, NM_001378531.1:c.844A>G, NM_001378532.1:c.844A>G, NM_001378533.1:c.823A>G, NM_001378551.1:c.823A>G, NM_001378534.1:c.721A>G, NM_001378535.1:c.700A>G, NM_001378522.1:c.721A>G, NM_001378552.1:c.823A>G, NM_001378523.1:c.721A>G, NM_001378536.1:c.592A>G, NM_001378550.1:c.592A>G, NM_001378537.1:c.700A>G, NM_001378538.1:c.571A>G, NM_001378540.1:c.571A>G, NM_001378539.1:c.721A>G, NM_001378543.1:c.541A>G, NM_001378549.1:c.520A>G, NM_001378541.1:c.721A>G, NM_001378542.1:c.700A>G, NM_001378544.1:c.700A>G, NM_001378545.1:c.490A>G, NM_001378546.1:c.700A>G, NM_001378554.1:c.490A>G, NM_001378547.1:c.700A>G, NM_001378548.1:c.700A>G, NM_001378557.1:c.700A>G, NM_001378556.1:c.592A>G, XR_007065303.1:n.854A>G, XR_007065304.1:n.854A>G, XR_007065305.1:n.833A>G, XR_007065306.1:n.854A>G, XR_007065307.1:n.833A>G, NM_001378553.1:c.541A>G, NM_001378555.1:c.490A>G, XM_047436305.1:c.721A>G, XM_047436304.1:c.721A>G, NP_005168.2:p.Lys234Glu, NP_001123492.1:p.Lys241Glu, NP_001123493.1:p.Lys234Glu, NP_001365459.1:p.Lys275Glu, NP_001365460.1:p.Lys282Glu, NP_001365461.1:p.Lys282Glu, NP_001365462.1:p.Lys275Glu, NP_001365480.1:p.Lys275Glu, NP_001365463.1:p.Lys241Glu, NP_001365464.1:p.Lys234Glu, NP_001365451.1:p.Lys241Glu, NP_001365481.1:p.Lys275Glu, NP_001365452.1:p.Lys241Glu, NP_001365465.1:p.Lys198Glu, NP_001365479.1:p.Lys198Glu, NP_001365466.1:p.Lys234Glu, NP_001365467.1:p.Lys191Glu, NP_001365469.1:p.Lys191Glu, NP_001365468.1:p.Lys241Glu, NP_001365472.1:p.Lys181Glu, NP_001365478.1:p.Lys174Glu, NP_001365470.1:p.Lys241Glu, NP_001365471.1:p.Lys234Glu, NP_001365473.1:p.Lys234Glu, NP_001365474.1:p.Lys164Glu, NP_001365475.1:p.Lys234Glu, NP_001365483.1:p.Lys164Glu, NP_001365476.1:p.Lys234Glu, NP_001365477.1:p.Lys234Glu, NP_001365486.1:p.Lys234Glu, NP_001365485.1:p.Lys198Glu, XP_047292261.1:p.Lys241Glu, XP_047292260.1:p.Lys241Glu

                                  17.

                                  rs1473734195 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:42495171 (GRCh38)
                                    17:40647189 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42495170:G:A
                                    Gene:
                                    ATP6V0A1 (Varview), MIR548AT (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.42495171G>A, NC_000017.10:g.40647189G>A, NG_047037.1:g.41328G>A, NM_005177.5:c.1452G>A, NM_005177.4:c.1452G>A, NM_005177.3:c.1452G>A, NM_001130020.3:c.1473G>A, NM_001130020.2:c.1473G>A, NM_001130020.1:c.1473G>A, NM_001130021.3:c.1452G>A, NM_001130021.2:c.1452G>A, NM_001130021.1:c.1452G>A, NM_001378530.1:c.1575G>A, NM_001378531.1:c.1596G>A, NM_001378532.1:c.1596G>A, NM_001378533.1:c.1575G>A, NM_001378551.1:c.1575G>A, NM_001378534.1:c.1473G>A, NM_001378535.1:c.1452G>A, NM_001378522.1:c.1473G>A, NM_001378552.1:c.1575G>A, NM_001378523.1:c.1473G>A, NM_001378536.1:c.1344G>A, NM_001378550.1:c.1344G>A, NM_001378537.1:c.1452G>A, NM_001378538.1:c.1323G>A, NM_001378540.1:c.1323G>A, NM_001378539.1:c.1473G>A, NM_001378543.1:c.1293G>A, NM_001378549.1:c.1272G>A, NM_001378541.1:c.1473G>A, NM_001378542.1:c.1452G>A, NM_001378544.1:c.1452G>A, NM_001378545.1:c.1242G>A, NM_001378546.1:c.1239G>A, NM_001378554.1:c.1242G>A, NM_001378547.1:c.1239G>A, NM_001378557.1:c.1452G>A, NM_001378556.1:c.1344G>A, XR_007065303.1:n.1606G>A, XR_007065304.1:n.1606G>A, XR_007065305.1:n.1585G>A, XR_007065306.1:n.1606G>A, XR_007065307.1:n.1585G>A, NM_001378553.1:c.1293G>A, NM_001378555.1:c.1242G>A, XM_047436305.1:c.1473G>A, XM_047436304.1:c.1473G>A, NP_005168.2:p.Met484Ile, NP_001123492.1:p.Met491Ile, NP_001123493.1:p.Met484Ile, NP_001365459.1:p.Met525Ile, NP_001365460.1:p.Met532Ile, NP_001365461.1:p.Met532Ile, NP_001365462.1:p.Met525Ile, NP_001365480.1:p.Met525Ile, NP_001365463.1:p.Met491Ile, NP_001365464.1:p.Met484Ile, NP_001365451.1:p.Met491Ile, NP_001365481.1:p.Met525Ile, NP_001365452.1:p.Met491Ile, NP_001365465.1:p.Met448Ile, NP_001365479.1:p.Met448Ile, NP_001365466.1:p.Met484Ile, NP_001365467.1:p.Met441Ile, NP_001365469.1:p.Met441Ile, NP_001365468.1:p.Met491Ile, NP_001365472.1:p.Met431Ile, NP_001365478.1:p.Met424Ile, NP_001365470.1:p.Met491Ile, NP_001365471.1:p.Met484Ile, NP_001365473.1:p.Met484Ile, NP_001365474.1:p.Met414Ile, NP_001365475.1:p.Met413Ile, NP_001365483.1:p.Met414Ile, NP_001365476.1:p.Met413Ile, NP_001365486.1:p.Met484Ile, NP_001365485.1:p.Met448Ile, XP_047292261.1:p.Met491Ile, XP_047292260.1:p.Met491Ile

                                    18.

                                    rs1472838489 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:42494396 (GRCh38)
                                      17:40646414 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42494395:G:A
                                      Gene:
                                      ATP6V0A1 (Varview), MIR548AT (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_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_000017.11:g.42494396G>A, NC_000017.10:g.40646414G>A, NG_047037.1:g.40553G>A, NM_005177.5:c.1237G>A, NM_005177.4:c.1237G>A, NM_005177.3:c.1237G>A, NM_001130020.3:c.1258G>A, NM_001130020.2:c.1258G>A, NM_001130020.1:c.1258G>A, NM_001130021.3:c.1237G>A, NM_001130021.2:c.1237G>A, NM_001130021.1:c.1237G>A, NM_001378530.1:c.1360G>A, NM_001378531.1:c.1381G>A, NM_001378532.1:c.1381G>A, NM_001378533.1:c.1360G>A, NM_001378551.1:c.1360G>A, NM_001378534.1:c.1258G>A, NM_001378535.1:c.1237G>A, NM_001378522.1:c.1258G>A, NM_001378552.1:c.1360G>A, NM_001378523.1:c.1258G>A, NM_001378536.1:c.1129G>A, NM_001378550.1:c.1129G>A, NM_001378537.1:c.1237G>A, NM_001378538.1:c.1108G>A, NM_001378540.1:c.1108G>A, NM_001378539.1:c.1258G>A, NM_001378543.1:c.1078G>A, NM_001378549.1:c.1057G>A, NM_001378541.1:c.1258G>A, NM_001378542.1:c.1237G>A, NM_001378544.1:c.1237G>A, NM_001378545.1:c.1027G>A, NM_001378546.1:c.1024G>A, NM_001378554.1:c.1027G>A, NM_001378547.1:c.1024G>A, NM_001378548.1:c.1237G>A, NM_001378557.1:c.1237G>A, NM_001378556.1:c.1129G>A, XR_007065303.1:n.1391G>A, XR_007065304.1:n.1391G>A, XR_007065305.1:n.1370G>A, XR_007065306.1:n.1391G>A, XR_007065307.1:n.1370G>A, NM_001378553.1:c.1078G>A, NM_001378555.1:c.1027G>A, XM_047436305.1:c.1258G>A, XM_047436304.1:c.1258G>A, NP_005168.2:p.Gly413Ser, NP_001123492.1:p.Gly420Ser, NP_001123493.1:p.Gly413Ser, NP_001365459.1:p.Gly454Ser, NP_001365460.1:p.Gly461Ser, NP_001365461.1:p.Gly461Ser, NP_001365462.1:p.Gly454Ser, NP_001365480.1:p.Gly454Ser, NP_001365463.1:p.Gly420Ser, NP_001365464.1:p.Gly413Ser, NP_001365451.1:p.Gly420Ser, NP_001365481.1:p.Gly454Ser, NP_001365452.1:p.Gly420Ser, NP_001365465.1:p.Gly377Ser, NP_001365479.1:p.Gly377Ser, NP_001365466.1:p.Gly413Ser, NP_001365467.1:p.Gly370Ser, NP_001365469.1:p.Gly370Ser, NP_001365468.1:p.Gly420Ser, NP_001365472.1:p.Gly360Ser, NP_001365478.1:p.Gly353Ser, NP_001365470.1:p.Gly420Ser, NP_001365471.1:p.Gly413Ser, NP_001365473.1:p.Gly413Ser, NP_001365474.1:p.Gly343Ser, NP_001365475.1:p.Gly342Ser, NP_001365483.1:p.Gly343Ser, NP_001365476.1:p.Gly342Ser, NP_001365477.1:p.Gly413Ser, NP_001365486.1:p.Gly413Ser, NP_001365485.1:p.Gly377Ser, XP_047292261.1:p.Gly420Ser, XP_047292260.1:p.Gly420Ser

                                      19.

                                      rs1472458746 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        17:42495151 (GRCh38)
                                        17:40647169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:42495150:T:G
                                        Gene:
                                        ATP6V0A1 (Varview), MIR548AT (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.42495151T>G, NC_000017.10:g.40647169T>G, NG_047037.1:g.41308T>G, NM_005177.5:c.1432T>G, NM_005177.4:c.1432T>G, NM_005177.3:c.1432T>G, NM_001130020.3:c.1453T>G, NM_001130020.2:c.1453T>G, NM_001130020.1:c.1453T>G, NM_001130021.3:c.1432T>G, NM_001130021.2:c.1432T>G, NM_001130021.1:c.1432T>G, NM_001378530.1:c.1555T>G, NM_001378531.1:c.1576T>G, NM_001378532.1:c.1576T>G, NM_001378533.1:c.1555T>G, NM_001378551.1:c.1555T>G, NM_001378534.1:c.1453T>G, NM_001378535.1:c.1432T>G, NM_001378522.1:c.1453T>G, NM_001378552.1:c.1555T>G, NM_001378523.1:c.1453T>G, NM_001378536.1:c.1324T>G, NM_001378550.1:c.1324T>G, NM_001378537.1:c.1432T>G, NM_001378538.1:c.1303T>G, NM_001378540.1:c.1303T>G, NM_001378539.1:c.1453T>G, NM_001378543.1:c.1273T>G, NM_001378549.1:c.1252T>G, NM_001378541.1:c.1453T>G, NM_001378542.1:c.1432T>G, NM_001378544.1:c.1432T>G, NM_001378545.1:c.1222T>G, NM_001378546.1:c.1219T>G, NM_001378554.1:c.1222T>G, NM_001378547.1:c.1219T>G, NM_001378557.1:c.1432T>G, NM_001378556.1:c.1324T>G, XR_007065303.1:n.1586T>G, XR_007065304.1:n.1586T>G, XR_007065305.1:n.1565T>G, XR_007065306.1:n.1586T>G, XR_007065307.1:n.1565T>G, NM_001378553.1:c.1273T>G, NM_001378555.1:c.1222T>G, XM_047436305.1:c.1453T>G, XM_047436304.1:c.1453T>G, NP_005168.2:p.Ser478Ala, NP_001123492.1:p.Ser485Ala, NP_001123493.1:p.Ser478Ala, NP_001365459.1:p.Ser519Ala, NP_001365460.1:p.Ser526Ala, NP_001365461.1:p.Ser526Ala, NP_001365462.1:p.Ser519Ala, NP_001365480.1:p.Ser519Ala, NP_001365463.1:p.Ser485Ala, NP_001365464.1:p.Ser478Ala, NP_001365451.1:p.Ser485Ala, NP_001365481.1:p.Ser519Ala, NP_001365452.1:p.Ser485Ala, NP_001365465.1:p.Ser442Ala, NP_001365479.1:p.Ser442Ala, NP_001365466.1:p.Ser478Ala, NP_001365467.1:p.Ser435Ala, NP_001365469.1:p.Ser435Ala, NP_001365468.1:p.Ser485Ala, NP_001365472.1:p.Ser425Ala, NP_001365478.1:p.Ser418Ala, NP_001365470.1:p.Ser485Ala, NP_001365471.1:p.Ser478Ala, NP_001365473.1:p.Ser478Ala, NP_001365474.1:p.Ser408Ala, NP_001365475.1:p.Ser407Ala, NP_001365483.1:p.Ser408Ala, NP_001365476.1:p.Ser407Ala, NP_001365486.1:p.Ser478Ala, NP_001365485.1:p.Ser442Ala, XP_047292261.1:p.Ser485Ala, XP_047292260.1:p.Ser485Ala

                                        20.

                                        rs1472429480 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:42468039 (GRCh38)
                                          17:40620057 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:42468038:A:G
                                          Gene:
                                          ATP6V0A1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000017.11:g.42468039A>G, NC_000017.10:g.40620057A>G, NG_047037.1:g.14196A>G, NM_005177.5:c.226A>G, NM_005177.4:c.226A>G, NM_005177.3:c.226A>G, NM_001130020.3:c.226A>G, NM_001130020.2:c.226A>G, NM_001130020.1:c.226A>G, NM_001130021.3:c.226A>G, NM_001130021.2:c.226A>G, NM_001130021.1:c.226A>G, NM_001378530.1:c.226A>G, NM_001378531.1:c.226A>G, NM_001378532.1:c.226A>G, NM_001378533.1:c.226A>G, NM_001378551.1:c.226A>G, NM_001378534.1:c.226A>G, NM_001378535.1:c.226A>G, NM_001378522.1:c.226A>G, NM_001378552.1:c.226A>G, NM_001378523.1:c.226A>G, NM_001378536.1:c.226A>G, NM_001378550.1:c.226A>G, NM_001378537.1:c.226A>G, NM_001378538.1:c.226A>G, NM_001378540.1:c.226A>G, NM_001378539.1:c.226A>G, NM_001378543.1:c.46A>G, NM_001378549.1:c.46A>G, NM_001378541.1:c.226A>G, NM_001378542.1:c.226A>G, NM_001378544.1:c.226A>G, NM_001378545.1:c.226A>G, NM_001378546.1:c.226A>G, NM_001378554.1:c.226A>G, NM_001378547.1:c.226A>G, NM_001378548.1:c.226A>G, NM_001378557.1:c.226A>G, NM_001378556.1:c.226A>G, XR_007065303.1:n.359A>G, XR_007065304.1:n.359A>G, XR_007065305.1:n.359A>G, XR_007065306.1:n.359A>G, XR_007065307.1:n.359A>G, NM_001378553.1:c.46A>G, NM_001378555.1:c.226A>G, XM_047436305.1:c.226A>G, XM_047436304.1:c.226A>G, NP_005168.2:p.Asn76Asp, NP_001123492.1:p.Asn76Asp, NP_001123493.1:p.Asn76Asp, NP_001365459.1:p.Asn76Asp, NP_001365460.1:p.Asn76Asp, NP_001365461.1:p.Asn76Asp, NP_001365462.1:p.Asn76Asp, NP_001365480.1:p.Asn76Asp, NP_001365463.1:p.Asn76Asp, NP_001365464.1:p.Asn76Asp, NP_001365451.1:p.Asn76Asp, NP_001365481.1:p.Asn76Asp, NP_001365452.1:p.Asn76Asp, NP_001365465.1:p.Asn76Asp, NP_001365479.1:p.Asn76Asp, NP_001365466.1:p.Asn76Asp, NP_001365467.1:p.Asn76Asp, NP_001365469.1:p.Asn76Asp, NP_001365468.1:p.Asn76Asp, NP_001365472.1:p.Asn16Asp, NP_001365478.1:p.Asn16Asp, NP_001365470.1:p.Asn76Asp, NP_001365471.1:p.Asn76Asp, NP_001365473.1:p.Asn76Asp, NP_001365474.1:p.Asn76Asp, NP_001365475.1:p.Asn76Asp, NP_001365483.1:p.Asn76Asp, NP_001365476.1:p.Asn76Asp, NP_001365477.1:p.Asn76Asp, NP_001365486.1:p.Asn76Asp, NP_001365485.1:p.Asn76Asp, XP_047292261.1:p.Asn76Asp, XP_047292260.1:p.Asn76Asp

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