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Items: 1 to 20 of 1000

1.

rs1490349951 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:77166083 (GRCh38)
    11:76877129 (GRCh37)
    Canonical SPDI:
    NC_000011.10:77166082:T:C
    Gene:
    MYO7A (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=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000011.10:g.77166083T>C, NC_000011.9:g.76877129T>C, NG_009086.2:g.42838T>C, NM_000260.4:c.1718T>C, NM_000260.3:c.1718T>C, NM_001127180.2:c.1718T>C, NM_001127180.1:c.1718T>C, NM_001369365.1:c.1685T>C, NW_003871081.1:g.167719T>C, XM_011545044.3:c.1718T>C, XM_011545044.2:c.1718T>C, XM_011545044.1:c.1718T>C, XM_011545046.3:c.1808T>C, XM_011545046.2:c.1808T>C, XM_011545046.1:c.1685T>C, XM_011545050.3:c.1460T>C, XM_011545050.2:c.1460T>C, XM_011545050.1:c.1460T>C, XM_017017780.2:c.1808T>C, XM_017017780.1:c.1808T>C, XM_017017788.2:c.1808T>C, XM_017017788.1:c.1808T>C, XM_017017784.2:c.1808T>C, XM_017017784.1:c.1808T>C, XM_017017778.2:c.1808T>C, XM_017017778.1:c.1808T>C, XM_017017779.2:c.1808T>C, XM_017017779.1:c.1808T>C, XM_017017781.2:c.1808T>C, XM_017017781.1:c.1808T>C, XM_017017782.2:c.1808T>C, XM_017017782.1:c.1808T>C, XM_017017783.2:c.1808T>C, XM_017017783.1:c.1808T>C, XM_017017785.2:c.1577T>C, XM_017017785.1:c.1577T>C, XM_017017786.2:c.1808T>C, XM_017017786.1:c.1808T>C, XR_001747888.2:n.1905T>C, XR_001747888.1:n.1823T>C, XR_001747889.2:n.1905T>C, XR_001747889.1:n.1823T>C, XM_017017787.2:c.1808T>C, XM_017017787.1:c.1808T>C, NM_001127179.2:c.1718T>C, XM_047426970.1:c.1718T>C, XM_047426973.1:c.1685T>C, XM_047426971.1:c.1487T>C, XM_047426972.1:c.1808T>C, XM_047426974.1:c.1808T>C, NP_000251.3:p.Leu573Pro, NP_001120652.1:p.Leu573Pro, NP_001356294.1:p.Leu562Pro, XP_011543346.1:p.Leu573Pro, XP_011543348.2:p.Leu603Pro, XP_011543352.1:p.Leu487Pro, XP_016873269.1:p.Leu603Pro, XP_016873277.1:p.Leu603Pro, XP_016873273.1:p.Leu603Pro, XP_016873267.1:p.Leu603Pro, XP_016873268.1:p.Leu603Pro, XP_016873270.1:p.Leu603Pro, XP_016873271.1:p.Leu603Pro, XP_016873272.1:p.Leu603Pro, XP_016873274.1:p.Leu526Pro, XP_016873275.1:p.Leu603Pro, XP_016873276.1:p.Leu603Pro, XP_047282926.1:p.Leu573Pro, XP_047282929.1:p.Leu562Pro, XP_047282927.1:p.Leu496Pro, XP_047282928.1:p.Leu603Pro, XP_047282930.1:p.Leu603Pro

    2.

    rs1489627258 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      11:77212984 (GRCh38)
      11:76924029 (GRCh37)
      Canonical SPDI:
      NC_000011.10:77212983:C:G,NC_000011.10:77212983:C:T
      Gene:
      MYO7A (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000011.10:g.77212984C>G, NC_000011.10:g.77212984C>T, NC_000011.9:g.76924029C>G, NC_000011.9:g.76924029C>T, NG_009086.2:g.89739C>G, NG_009086.2:g.89739C>T, NM_000260.4:c.6387C>G, NM_000260.4:c.6387C>T, NM_000260.3:c.6387C>G, NM_000260.3:c.6387C>T, NM_001127180.2:c.6267C>G, NM_001127180.2:c.6267C>T, NM_001127180.1:c.6267C>G, NM_001127180.1:c.6267C>T, NM_001369365.1:c.6240C>G, NM_001369365.1:c.6240C>T, XM_017017780.2:c.6477C>G, XM_017017780.2:c.6477C>T, XM_017017780.1:c.6477C>G, XM_017017780.1:c.6477C>T, XM_017017788.2:c.6363C>G, XM_017017788.2:c.6363C>T, XM_017017788.1:c.6363C>G, XM_017017788.1:c.6363C>T, XM_017017784.2:c.6360C>G, XM_017017784.2:c.6360C>T, XM_017017784.1:c.6360C>G, XM_017017784.1:c.6360C>T, XM_017017786.2:c.*59C>G, XM_017017786.2:c.*59C>T, XM_017017786.1:c.*59C>G, XM_017017786.1:c.*59C>T

      3.

      rs1488894035 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:77203128 (GRCh38)
        11:76914173 (GRCh37)
        Canonical SPDI:
        NC_000011.10:77203127:G:A
        Gene:
        MYO7A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.77203128G>A, NC_000011.9:g.76914173G>A, NG_009086.2:g.79883G>A, NM_000260.4:c.5237G>A, NM_000260.3:c.5237G>A, NM_001127180.2:c.5123G>A, NM_001127180.1:c.5123G>A, NM_001369365.1:c.5090G>A, XM_011545044.3:c.5237G>A, XM_011545044.2:c.5237G>A, XM_011545044.1:c.5237G>A, XM_011545046.3:c.5327G>A, XM_011545046.2:c.5327G>A, XM_011545046.1:c.5204G>A, XM_011545050.3:c.4973G>A, XM_011545050.2:c.4973G>A, XM_011545050.1:c.4973G>A, XM_017017780.2:c.5327G>A, XM_017017780.1:c.5327G>A, XM_017017788.2:c.5213G>A, XM_017017788.1:c.5213G>A, XM_017017784.2:c.5210G>A, XM_017017784.1:c.5210G>A, XM_017017778.2:c.5321G>A, XM_017017778.1:c.5321G>A, XM_017017779.2:c.5318G>A, XM_017017779.1:c.5318G>A, XM_017017781.2:c.5231G>A, XM_017017781.1:c.5231G>A, XM_017017782.2:c.5213G>A, XM_017017782.1:c.5213G>A, XM_017017783.2:c.5210G>A, XM_017017783.1:c.5210G>A, XM_017017785.2:c.5090G>A, XM_017017785.1:c.5090G>A, XM_017017786.2:c.5327G>A, XM_017017786.1:c.5327G>A, XR_001747888.2:n.5424G>A, XR_001747888.1:n.5342G>A, XM_047426970.1:c.5141G>A, XM_047426973.1:c.5204G>A, XM_047426971.1:c.5000G>A, XM_047426972.1:c.5327G>A, XM_047426974.1:c.5327G>A, NP_000251.3:p.Ser1746Asn, NP_001120652.1:p.Ser1708Asn, NP_001356294.1:p.Ser1697Asn, XP_011543346.1:p.Ser1746Asn, XP_011543348.2:p.Ser1776Asn, XP_011543352.1:p.Ser1658Asn, XP_016873269.1:p.Ser1776Asn, XP_016873277.1:p.Ser1738Asn, XP_016873273.1:p.Ser1737Asn, XP_016873267.1:p.Ser1774Asn, XP_016873268.1:p.Ser1773Asn, XP_016873270.1:p.Ser1744Asn, XP_016873271.1:p.Ser1738Asn, XP_016873272.1:p.Ser1737Asn, XP_016873274.1:p.Ser1697Asn, XP_016873275.1:p.Ser1776Asn, XP_047282926.1:p.Ser1714Asn, XP_047282929.1:p.Ser1735Asn, XP_047282927.1:p.Ser1667Asn, XP_047282928.1:p.Ser1776Asn, XP_047282930.1:p.Ser1776Asn

        4.

        rs1488623465 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:77199666 (GRCh38)
          11:76910711 (GRCh37)
          Canonical SPDI:
          NC_000011.10:77199665:C:T
          Gene:
          MYO7A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.77199666C>T, NC_000011.9:g.76910711C>T, NG_009086.2:g.76421C>T, NM_000260.4:c.4700C>T, NM_000260.3:c.4700C>T, NM_001127180.2:c.4586C>T, NM_001127180.1:c.4586C>T, NM_001369365.1:c.4553C>T, XM_011545044.3:c.4700C>T, XM_011545044.2:c.4700C>T, XM_011545044.1:c.4700C>T, XM_011545046.3:c.4790C>T, XM_011545046.2:c.4790C>T, XM_011545046.1:c.4667C>T, XM_011545050.3:c.4436C>T, XM_011545050.2:c.4436C>T, XM_011545050.1:c.4436C>T, XM_017017780.2:c.4790C>T, XM_017017780.1:c.4790C>T, XM_017017788.2:c.4676C>T, XM_017017788.1:c.4676C>T, XM_017017784.2:c.4676C>T, XM_017017784.1:c.4676C>T, XM_017017778.2:c.4784C>T, XM_017017778.1:c.4784C>T, XM_017017779.2:c.4784C>T, XM_017017779.1:c.4784C>T, XM_017017781.2:c.4694C>T, XM_017017781.1:c.4694C>T, XM_017017782.2:c.4676C>T, XM_017017782.1:c.4676C>T, XM_017017783.2:c.4676C>T, XM_017017783.1:c.4676C>T, XM_017017785.2:c.4553C>T, XM_017017785.1:c.4553C>T, XM_017017786.2:c.4790C>T, XM_017017786.1:c.4790C>T, XR_001747888.2:n.4887C>T, XR_001747888.1:n.4805C>T, XM_047426970.1:c.4604C>T, XM_047426973.1:c.4667C>T, XM_047426971.1:c.4463C>T, XM_047426972.1:c.4790C>T, XM_047426974.1:c.4790C>T, NP_000251.3:p.Ala1567Val, NP_001120652.1:p.Ala1529Val, NP_001356294.1:p.Ala1518Val, XP_011543346.1:p.Ala1567Val, XP_011543348.2:p.Ala1597Val, XP_011543352.1:p.Ala1479Val, XP_016873269.1:p.Ala1597Val, XP_016873277.1:p.Ala1559Val, XP_016873273.1:p.Ala1559Val, XP_016873267.1:p.Ala1595Val, XP_016873268.1:p.Ala1595Val, XP_016873270.1:p.Ala1565Val, XP_016873271.1:p.Ala1559Val, XP_016873272.1:p.Ala1559Val, XP_016873274.1:p.Ala1518Val, XP_016873275.1:p.Ala1597Val, XP_047282926.1:p.Ala1535Val, XP_047282929.1:p.Ala1556Val, XP_047282927.1:p.Ala1488Val, XP_047282928.1:p.Ala1597Val, XP_047282930.1:p.Ala1597Val

          5.

          rs1488428285 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:77194398 (GRCh38)
            11:76905443 (GRCh37)
            Canonical SPDI:
            NC_000011.10:77194397:C:T
            Gene:
            MYO7A (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant
            HGVS:
            NC_000011.10:g.77194398C>T, NC_000011.9:g.76905443C>T, NG_009086.2:g.71153C>T, NM_000260.4:c.4197C>T, NM_000260.3:c.4197C>T, NM_001127180.2:c.4197C>T, NM_001127180.1:c.4197C>T, NM_001369365.1:c.4164C>T, XM_011545044.3:c.4197C>T, XM_011545044.2:c.4197C>T, XM_011545044.1:c.4197C>T, XM_011545046.3:c.4287C>T, XM_011545046.2:c.4287C>T, XM_011545046.1:c.4164C>T, XM_011545050.3:c.4047C>T, XM_011545050.2:c.4047C>T, XM_011545050.1:c.4047C>T, XM_017017780.2:c.4287C>T, XM_017017780.1:c.4287C>T, XM_017017788.2:c.4287C>T, XM_017017788.1:c.4287C>T, XM_017017784.2:c.4287C>T, XM_017017784.1:c.4287C>T, XM_017017778.2:c.4395C>T, XM_017017778.1:c.4395C>T, XM_017017779.2:c.4395C>T, XM_017017779.1:c.4395C>T, XM_017017781.2:c.4305C>T, XM_017017781.1:c.4305C>T, XM_017017782.2:c.4287C>T, XM_017017782.1:c.4287C>T, XM_017017783.2:c.4287C>T, XM_017017783.1:c.4287C>T, XM_017017785.2:c.4164C>T, XM_017017785.1:c.4164C>T, XM_017017786.2:c.4287C>T, XM_017017786.1:c.4287C>T, XR_001747888.2:n.4384C>T, XR_001747888.1:n.4302C>T, XM_047426970.1:c.4215C>T, XM_047426973.1:c.4164C>T, XM_047426971.1:c.4074C>T, XM_047426972.1:c.4287C>T, XM_047426974.1:c.4287C>T

            6.

            rs1488185898 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:77207307 (GRCh38)
              11:76918352 (GRCh37)
              Canonical SPDI:
              NC_000011.10:77207306:A:G
              Gene:
              MYO7A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.77207307A>G, NC_000011.9:g.76918352A>G, NG_009086.2:g.84062A>G, NM_000260.4:c.5761A>G, NM_000260.3:c.5761A>G, NM_001127180.2:c.5647A>G, NM_001127180.1:c.5647A>G, NM_001369365.1:c.5614A>G, XM_011545044.3:c.5761A>G, XM_011545044.2:c.5761A>G, XM_011545044.1:c.5761A>G, XM_011545046.3:c.5851A>G, XM_011545046.2:c.5851A>G, XM_011545046.1:c.5728A>G, XM_011545050.3:c.5497A>G, XM_011545050.2:c.5497A>G, XM_011545050.1:c.5497A>G, XM_017017780.2:c.5851A>G, XM_017017780.1:c.5851A>G, XM_017017788.2:c.5737A>G, XM_017017788.1:c.5737A>G, XM_017017784.2:c.5734A>G, XM_017017784.1:c.5734A>G, XM_017017778.2:c.5845A>G, XM_017017778.1:c.5845A>G, XM_017017779.2:c.5842A>G, XM_017017779.1:c.5842A>G, XM_017017781.2:c.5755A>G, XM_017017781.1:c.5755A>G, XM_017017782.2:c.5737A>G, XM_017017782.1:c.5737A>G, XM_017017783.2:c.5734A>G, XM_017017783.1:c.5734A>G, XM_017017785.2:c.5614A>G, XM_017017785.1:c.5614A>G, XM_017017786.2:c.5851A>G, XM_017017786.1:c.5851A>G, XM_047426970.1:c.5665A>G, XM_047426973.1:c.5728A>G, XM_047426971.1:c.5524A>G, XM_047426972.1:c.5851A>G, NP_000251.3:p.Ser1921Gly, NP_001120652.1:p.Ser1883Gly, NP_001356294.1:p.Ser1872Gly, XP_011543346.1:p.Ser1921Gly, XP_011543348.2:p.Ser1951Gly, XP_011543352.1:p.Ser1833Gly, XP_016873269.1:p.Ser1951Gly, XP_016873277.1:p.Ser1913Gly, XP_016873273.1:p.Ser1912Gly, XP_016873267.1:p.Ser1949Gly, XP_016873268.1:p.Ser1948Gly, XP_016873270.1:p.Ser1919Gly, XP_016873271.1:p.Ser1913Gly, XP_016873272.1:p.Ser1912Gly, XP_016873274.1:p.Ser1872Gly, XP_016873275.1:p.Ser1951Gly, XP_047282926.1:p.Ser1889Gly, XP_047282929.1:p.Ser1910Gly, XP_047282927.1:p.Ser1842Gly, XP_047282928.1:p.Ser1951Gly

              7.

              rs1487259411 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                11:77204108 (GRCh38)
                11:76915153 (GRCh37)
                Canonical SPDI:
                NC_000011.10:77204107:A:C
                Gene:
                MYO7A (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.77204108A>C, NC_000011.9:g.76915153A>C, NG_009086.2:g.80863A>C, NM_000260.4:c.5359A>C, NM_000260.3:c.5359A>C, NM_001127180.2:c.5245A>C, NM_001127180.1:c.5245A>C, NM_001369365.1:c.5212A>C, XM_011545044.3:c.5359A>C, XM_011545044.2:c.5359A>C, XM_011545044.1:c.5359A>C, XM_011545046.3:c.5449A>C, XM_011545046.2:c.5449A>C, XM_011545046.1:c.5326A>C, XM_011545050.3:c.5095A>C, XM_011545050.2:c.5095A>C, XM_011545050.1:c.5095A>C, XM_017017780.2:c.5449A>C, XM_017017780.1:c.5449A>C, XM_017017788.2:c.5335A>C, XM_017017788.1:c.5335A>C, XM_017017784.2:c.5332A>C, XM_017017784.1:c.5332A>C, XM_017017778.2:c.5443A>C, XM_017017778.1:c.5443A>C, XM_017017779.2:c.5440A>C, XM_017017779.1:c.5440A>C, XM_017017781.2:c.5353A>C, XM_017017781.1:c.5353A>C, XM_017017782.2:c.5335A>C, XM_017017782.1:c.5335A>C, XM_017017783.2:c.5332A>C, XM_017017783.1:c.5332A>C, XM_017017785.2:c.5212A>C, XM_017017785.1:c.5212A>C, XM_017017786.2:c.5449A>C, XM_017017786.1:c.5449A>C, XR_001747888.2:n.5532A>C, XR_001747888.1:n.5450A>C, XM_047426970.1:c.5263A>C, XM_047426973.1:c.5326A>C, XM_047426971.1:c.5122A>C, XM_047426972.1:c.5449A>C, XM_047426974.1:c.5449A>C, NP_000251.3:p.Lys1787Gln, NP_001120652.1:p.Lys1749Gln, NP_001356294.1:p.Lys1738Gln, XP_011543346.1:p.Lys1787Gln, XP_011543348.2:p.Lys1817Gln, XP_011543352.1:p.Lys1699Gln, XP_016873269.1:p.Lys1817Gln, XP_016873277.1:p.Lys1779Gln, XP_016873273.1:p.Lys1778Gln, XP_016873267.1:p.Lys1815Gln, XP_016873268.1:p.Lys1814Gln, XP_016873270.1:p.Lys1785Gln, XP_016873271.1:p.Lys1779Gln, XP_016873272.1:p.Lys1778Gln, XP_016873274.1:p.Lys1738Gln, XP_016873275.1:p.Lys1817Gln, XP_047282926.1:p.Lys1755Gln, XP_047282929.1:p.Lys1776Gln, XP_047282927.1:p.Lys1708Gln, XP_047282928.1:p.Lys1817Gln, XP_047282930.1:p.Lys1817Gln

                8.

                rs1487183681 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:77190778 (GRCh38)
                  11:76901823 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:77190777:A:C
                  Gene:
                  MYO7A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.77190778A>C, NC_000011.9:g.76901823A>C, NG_009086.2:g.67533A>C, NM_000260.4:c.3832A>C, NM_000260.3:c.3832A>C, NM_001127180.2:c.3832A>C, NM_001127180.1:c.3832A>C, NM_001369365.1:c.3799A>C, XM_011545044.3:c.3832A>C, XM_011545044.2:c.3832A>C, XM_011545044.1:c.3832A>C, XM_011545046.3:c.3922A>C, XM_011545046.2:c.3922A>C, XM_011545046.1:c.3799A>C, XM_011545050.3:c.3574A>C, XM_011545050.2:c.3574A>C, XM_011545050.1:c.3574A>C, XM_017017780.2:c.3922A>C, XM_017017780.1:c.3922A>C, XM_017017788.2:c.3922A>C, XM_017017788.1:c.3922A>C, XM_017017784.2:c.3922A>C, XM_017017784.1:c.3922A>C, XM_017017778.2:c.3922A>C, XM_017017778.1:c.3922A>C, XM_017017779.2:c.3922A>C, XM_017017779.1:c.3922A>C, XM_017017781.2:c.3832A>C, XM_017017781.1:c.3832A>C, XM_017017782.2:c.3922A>C, XM_017017782.1:c.3922A>C, XM_017017783.2:c.3922A>C, XM_017017783.1:c.3922A>C, XM_017017785.2:c.3691A>C, XM_017017785.1:c.3691A>C, XM_017017786.2:c.3922A>C, XM_017017786.1:c.3922A>C, XR_001747888.2:n.4019A>C, XR_001747888.1:n.3937A>C, XR_001747889.2:n.4019A>C, XR_001747889.1:n.3937A>C, XM_017017787.2:c.3922A>C, XM_017017787.1:c.3922A>C, XM_047426970.1:c.3742A>C, XM_047426973.1:c.3799A>C, XM_047426971.1:c.3601A>C, XM_047426972.1:c.3922A>C, XM_047426974.1:c.3922A>C, NP_000251.3:p.Thr1278Pro, NP_001120652.1:p.Thr1278Pro, NP_001356294.1:p.Thr1267Pro, XP_011543346.1:p.Thr1278Pro, XP_011543348.2:p.Thr1308Pro, XP_011543352.1:p.Thr1192Pro, XP_016873269.1:p.Thr1308Pro, XP_016873277.1:p.Thr1308Pro, XP_016873273.1:p.Thr1308Pro, XP_016873267.1:p.Thr1308Pro, XP_016873268.1:p.Thr1308Pro, XP_016873270.1:p.Thr1278Pro, XP_016873271.1:p.Thr1308Pro, XP_016873272.1:p.Thr1308Pro, XP_016873274.1:p.Thr1231Pro, XP_016873275.1:p.Thr1308Pro, XP_016873276.1:p.Thr1308Pro, XP_047282926.1:p.Thr1248Pro, XP_047282929.1:p.Thr1267Pro, XP_047282927.1:p.Thr1201Pro, XP_047282928.1:p.Thr1308Pro, XP_047282930.1:p.Thr1308Pro

                  9.

                  rs1487030972 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:77184606 (GRCh38)
                    11:76895651 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:77184605:G:A
                    Gene:
                    MYO7A (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000011.10:g.77184606G>A, NC_000011.9:g.76895651G>A, NG_009086.2:g.61361G>A, NM_000260.4:c.3394G>A, NM_000260.3:c.3394G>A, NM_001127180.2:c.3394G>A, NM_001127180.1:c.3394G>A, NM_001369365.1:c.3361G>A, NW_003871081.1:g.186241G>A, XM_011545044.3:c.3394G>A, XM_011545044.2:c.3394G>A, XM_011545044.1:c.3394G>A, XM_011545046.3:c.3484G>A, XM_011545046.2:c.3484G>A, XM_011545046.1:c.3361G>A, XM_011545050.3:c.3136G>A, XM_011545050.2:c.3136G>A, XM_011545050.1:c.3136G>A, XM_017017780.2:c.3484G>A, XM_017017780.1:c.3484G>A, XM_017017788.2:c.3484G>A, XM_017017788.1:c.3484G>A, XM_017017784.2:c.3484G>A, XM_017017784.1:c.3484G>A, XM_017017778.2:c.3484G>A, XM_017017778.1:c.3484G>A, XM_017017779.2:c.3484G>A, XM_017017779.1:c.3484G>A, XM_017017781.2:c.3394G>A, XM_017017781.1:c.3394G>A, XM_017017782.2:c.3484G>A, XM_017017782.1:c.3484G>A, XM_017017783.2:c.3484G>A, XM_017017783.1:c.3484G>A, XM_017017785.2:c.3253G>A, XM_017017785.1:c.3253G>A, XM_017017786.2:c.3484G>A, XM_017017786.1:c.3484G>A, XR_001747888.2:n.3581G>A, XR_001747888.1:n.3499G>A, XR_001747889.2:n.3581G>A, XR_001747889.1:n.3499G>A, XM_017017787.2:c.3484G>A, XM_017017787.1:c.3484G>A, NM_001127179.2:c.3394G>A, XM_047426970.1:c.3304G>A, XM_047426973.1:c.3361G>A, XM_047426971.1:c.3163G>A, XM_047426972.1:c.3484G>A, XM_047426974.1:c.3484G>A, NP_000251.3:p.Asp1132Asn, NP_001120652.1:p.Asp1132Asn, NP_001356294.1:p.Asp1121Asn, XP_011543346.1:p.Asp1132Asn, XP_011543348.2:p.Asp1162Asn, XP_011543352.1:p.Asp1046Asn, XP_016873269.1:p.Asp1162Asn, XP_016873277.1:p.Asp1162Asn, XP_016873273.1:p.Asp1162Asn, XP_016873267.1:p.Asp1162Asn, XP_016873268.1:p.Asp1162Asn, XP_016873270.1:p.Asp1132Asn, XP_016873271.1:p.Asp1162Asn, XP_016873272.1:p.Asp1162Asn, XP_016873274.1:p.Asp1085Asn, XP_016873275.1:p.Asp1162Asn, XP_016873276.1:p.Asp1162Asn, XP_047282926.1:p.Asp1102Asn, XP_047282929.1:p.Asp1121Asn, XP_047282927.1:p.Asp1055Asn, XP_047282928.1:p.Asp1162Asn, XP_047282930.1:p.Asp1162Asn

                    10.

                    rs1486805195 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:77202354 (GRCh38)
                      11:76913399 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:77202353:C:T
                      Gene:
                      MYO7A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.77202354C>T, NC_000011.9:g.76913399C>T, NG_009086.2:g.79109C>T, NM_000260.4:c.5098C>T, NM_000260.3:c.5098C>T, NM_001127180.2:c.4984C>T, NM_001127180.1:c.4984C>T, NM_001369365.1:c.4951C>T, XM_011545044.3:c.5098C>T, XM_011545044.2:c.5098C>T, XM_011545044.1:c.5098C>T, XM_011545046.3:c.5188C>T, XM_011545046.2:c.5188C>T, XM_011545046.1:c.5065C>T, XM_011545050.3:c.4834C>T, XM_011545050.2:c.4834C>T, XM_011545050.1:c.4834C>T, XM_017017780.2:c.5188C>T, XM_017017780.1:c.5188C>T, XM_017017788.2:c.5074C>T, XM_017017788.1:c.5074C>T, XM_017017784.2:c.5071C>T, XM_017017784.1:c.5071C>T, XM_017017778.2:c.5182C>T, XM_017017778.1:c.5182C>T, XM_017017779.2:c.5179C>T, XM_017017779.1:c.5179C>T, XM_017017781.2:c.5092C>T, XM_017017781.1:c.5092C>T, XM_017017782.2:c.5074C>T, XM_017017782.1:c.5074C>T, XM_017017783.2:c.5071C>T, XM_017017783.1:c.5071C>T, XM_017017785.2:c.4951C>T, XM_017017785.1:c.4951C>T, XM_017017786.2:c.5188C>T, XM_017017786.1:c.5188C>T, XR_001747888.2:n.5285C>T, XR_001747888.1:n.5203C>T, XM_047426970.1:c.5002C>T, XM_047426973.1:c.5065C>T, XM_047426971.1:c.4861C>T, XM_047426972.1:c.5188C>T, XM_047426974.1:c.5188C>T

                      11.

                      rs1485682391 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        11:77192182 (GRCh38)
                        11:76903227 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:77192181:G:A,NC_000011.10:77192181:G:T
                        Gene:
                        MYO7A (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000011.10:g.77192182G>A, NC_000011.10:g.77192182G>T, NC_000011.9:g.76903227G>A, NC_000011.9:g.76903227G>T, NG_009086.2:g.68937G>A, NG_009086.2:g.68937G>T, NM_000260.4:c.4056G>A, NM_000260.4:c.4056G>T, NM_000260.3:c.4056G>A, NM_000260.3:c.4056G>T, NM_001127180.2:c.4056G>A, NM_001127180.2:c.4056G>T, NM_001127180.1:c.4056G>A, NM_001127180.1:c.4056G>T, NM_001369365.1:c.4023G>A, NM_001369365.1:c.4023G>T, XM_011545044.3:c.4056G>A, XM_011545044.3:c.4056G>T, XM_011545044.2:c.4056G>A, XM_011545044.2:c.4056G>T, XM_011545044.1:c.4056G>A, XM_011545044.1:c.4056G>T, XM_011545046.3:c.4146G>A, XM_011545046.3:c.4146G>T, XM_011545046.2:c.4146G>A, XM_011545046.2:c.4146G>T, XM_011545046.1:c.4023G>A, XM_011545046.1:c.4023G>T, XM_011545050.3:c.3906G>A, XM_011545050.3:c.3906G>T, XM_011545050.2:c.3906G>A, XM_011545050.2:c.3906G>T, XM_011545050.1:c.3906G>A, XM_011545050.1:c.3906G>T, XM_017017780.2:c.4146G>A, XM_017017780.2:c.4146G>T, XM_017017780.1:c.4146G>A, XM_017017780.1:c.4146G>T, XM_017017788.2:c.4146G>A, XM_017017788.2:c.4146G>T, XM_017017788.1:c.4146G>A, XM_017017788.1:c.4146G>T, XM_017017784.2:c.4146G>A, XM_017017784.2:c.4146G>T, XM_017017784.1:c.4146G>A, XM_017017784.1:c.4146G>T, XM_017017778.2:c.4254G>A, XM_017017778.2:c.4254G>T, XM_017017778.1:c.4254G>A, XM_017017778.1:c.4254G>T, XM_017017779.2:c.4254G>A, XM_017017779.2:c.4254G>T, XM_017017779.1:c.4254G>A, XM_017017779.1:c.4254G>T, XM_017017781.2:c.4164G>A, XM_017017781.2:c.4164G>T, XM_017017781.1:c.4164G>A, XM_017017781.1:c.4164G>T, XM_017017782.2:c.4146G>A, XM_017017782.2:c.4146G>T, XM_017017782.1:c.4146G>A, XM_017017782.1:c.4146G>T, XM_017017783.2:c.4146G>A, XM_017017783.2:c.4146G>T, XM_017017783.1:c.4146G>A, XM_017017783.1:c.4146G>T, XM_017017785.2:c.4023G>A, XM_017017785.2:c.4023G>T, XM_017017785.1:c.4023G>A, XM_017017785.1:c.4023G>T, XM_017017786.2:c.4146G>A, XM_017017786.2:c.4146G>T, XM_017017786.1:c.4146G>A, XM_017017786.1:c.4146G>T, XR_001747888.2:n.4243G>A, XR_001747888.2:n.4243G>T, XR_001747888.1:n.4161G>A, XR_001747888.1:n.4161G>T, XR_001747889.2:n.4351G>A, XR_001747889.2:n.4351G>T, XR_001747889.1:n.4269G>A, XR_001747889.1:n.4269G>T, XM_017017787.2:c.4254G>A, XM_017017787.2:c.4254G>T, XM_017017787.1:c.4254G>A, XM_017017787.1:c.4254G>T, XM_047426970.1:c.4074G>A, XM_047426970.1:c.4074G>T, XM_047426973.1:c.4023G>A, XM_047426973.1:c.4023G>T, XM_047426971.1:c.3933G>A, XM_047426971.1:c.3933G>T, XM_047426972.1:c.4146G>A, XM_047426972.1:c.4146G>T, XM_047426974.1:c.4146G>A, XM_047426974.1:c.4146G>T

                        12.

                        rs1484578318 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:77199619 (GRCh38)
                          11:76910664 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:77199618:G:A
                          Gene:
                          MYO7A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000017/4 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1484401390 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            11:77213932 (GRCh38)
                            11:76924977 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:77213931:A:T
                            Gene:
                            MYO7A (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1484302134 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:77177594 (GRCh38)
                              11:76888640 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:77177593:A:G
                              Gene:
                              MYO7A (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.77177594A>G, NC_000011.9:g.76888640A>G, NG_009086.2:g.54349A>G, NM_000260.4:c.2233A>G, NM_000260.3:c.2233A>G, NM_001127180.2:c.2233A>G, NM_001127180.1:c.2233A>G, NM_001369365.1:c.2200A>G, NW_003871081.1:g.179230A>G, XM_011545044.3:c.2233A>G, XM_011545044.2:c.2233A>G, XM_011545044.1:c.2233A>G, XM_011545046.3:c.2323A>G, XM_011545046.2:c.2323A>G, XM_011545046.1:c.2200A>G, XM_011545050.3:c.1975A>G, XM_011545050.2:c.1975A>G, XM_011545050.1:c.1975A>G, XM_017017780.2:c.2323A>G, XM_017017780.1:c.2323A>G, XM_017017788.2:c.2323A>G, XM_017017788.1:c.2323A>G, XM_017017784.2:c.2323A>G, XM_017017784.1:c.2323A>G, XM_017017778.2:c.2323A>G, XM_017017778.1:c.2323A>G, XM_017017779.2:c.2323A>G, XM_017017779.1:c.2323A>G, XM_017017781.2:c.2323A>G, XM_017017781.1:c.2323A>G, XM_017017782.2:c.2323A>G, XM_017017782.1:c.2323A>G, XM_017017783.2:c.2323A>G, XM_017017783.1:c.2323A>G, XM_017017785.2:c.2092A>G, XM_017017785.1:c.2092A>G, XM_017017786.2:c.2323A>G, XM_017017786.1:c.2323A>G, XR_001747888.2:n.2420A>G, XR_001747888.1:n.2338A>G, XR_001747889.2:n.2420A>G, XR_001747889.1:n.2338A>G, XM_017017787.2:c.2323A>G, XM_017017787.1:c.2323A>G, NM_001127179.2:c.2233A>G, XM_047426970.1:c.2233A>G, XM_047426973.1:c.2200A>G, XM_047426971.1:c.2002A>G, XM_047426972.1:c.2323A>G, XM_047426974.1:c.2323A>G, NP_000251.3:p.Thr745Ala, NP_001120652.1:p.Thr745Ala, NP_001356294.1:p.Thr734Ala, XP_011543346.1:p.Thr745Ala, XP_011543348.2:p.Thr775Ala, XP_011543352.1:p.Thr659Ala, XP_016873269.1:p.Thr775Ala, XP_016873277.1:p.Thr775Ala, XP_016873273.1:p.Thr775Ala, XP_016873267.1:p.Thr775Ala, XP_016873268.1:p.Thr775Ala, XP_016873270.1:p.Thr775Ala, XP_016873271.1:p.Thr775Ala, XP_016873272.1:p.Thr775Ala, XP_016873274.1:p.Thr698Ala, XP_016873275.1:p.Thr775Ala, XP_016873276.1:p.Thr775Ala, XP_047282926.1:p.Thr745Ala, XP_047282929.1:p.Thr734Ala, XP_047282927.1:p.Thr668Ala, XP_047282928.1:p.Thr775Ala, XP_047282930.1:p.Thr775Ala

                              15.

                              rs1482823503 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:77204113 (GRCh38)
                                11:76915158 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:77204112:G:A
                                Gene:
                                MYO7A (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                HGVS:
                                NC_000011.10:g.77204113G>A, NC_000011.9:g.76915158G>A, NG_009086.2:g.80868G>A, NM_000260.4:c.5364G>A, NM_000260.3:c.5364G>A, NM_001127180.2:c.5250G>A, NM_001127180.1:c.5250G>A, NM_001369365.1:c.5217G>A, XM_011545044.3:c.5364G>A, XM_011545044.2:c.5364G>A, XM_011545044.1:c.5364G>A, XM_011545046.3:c.5454G>A, XM_011545046.2:c.5454G>A, XM_011545046.1:c.5331G>A, XM_011545050.3:c.5100G>A, XM_011545050.2:c.5100G>A, XM_011545050.1:c.5100G>A, XM_017017780.2:c.5454G>A, XM_017017780.1:c.5454G>A, XM_017017788.2:c.5340G>A, XM_017017788.1:c.5340G>A, XM_017017784.2:c.5337G>A, XM_017017784.1:c.5337G>A, XM_017017778.2:c.5448G>A, XM_017017778.1:c.5448G>A, XM_017017779.2:c.5445G>A, XM_017017779.1:c.5445G>A, XM_017017781.2:c.5358G>A, XM_017017781.1:c.5358G>A, XM_017017782.2:c.5340G>A, XM_017017782.1:c.5340G>A, XM_017017783.2:c.5337G>A, XM_017017783.1:c.5337G>A, XM_017017785.2:c.5217G>A, XM_017017785.1:c.5217G>A, XM_017017786.2:c.5454G>A, XM_017017786.1:c.5454G>A, XR_001747888.2:n.5537G>A, XR_001747888.1:n.5455G>A, XM_047426970.1:c.5268G>A, XM_047426973.1:c.5331G>A, XM_047426971.1:c.5127G>A, XM_047426972.1:c.5454G>A, XM_047426974.1:c.5454G>A

                                16.

                                rs1482496394 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:77162882 (GRCh38)
                                  11:76873928 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:77162881:G:T
                                  Gene:
                                  MYO7A (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.77162882G>T, NC_000011.9:g.76873928G>T, NG_009086.2:g.39637G>T, NM_000260.4:c.1584G>T, NM_000260.3:c.1584G>T, NM_001127180.2:c.1584G>T, NM_001127180.1:c.1584G>T, NM_001369365.1:c.1551G>T, NW_003871081.1:g.164518G>T, XM_011545044.3:c.1584G>T, XM_011545044.2:c.1584G>T, XM_011545044.1:c.1584G>T, XM_011545046.3:c.1674G>T, XM_011545046.2:c.1674G>T, XM_011545046.1:c.1551G>T, XM_011545050.3:c.1326G>T, XM_011545050.2:c.1326G>T, XM_011545050.1:c.1326G>T, XM_017017780.2:c.1674G>T, XM_017017780.1:c.1674G>T, XM_017017788.2:c.1674G>T, XM_017017788.1:c.1674G>T, XM_017017784.2:c.1674G>T, XM_017017784.1:c.1674G>T, XM_017017778.2:c.1674G>T, XM_017017778.1:c.1674G>T, XM_017017779.2:c.1674G>T, XM_017017779.1:c.1674G>T, XM_017017781.2:c.1674G>T, XM_017017781.1:c.1674G>T, XM_017017782.2:c.1674G>T, XM_017017782.1:c.1674G>T, XM_017017783.2:c.1674G>T, XM_017017783.1:c.1674G>T, XM_017017785.2:c.1443G>T, XM_017017785.1:c.1443G>T, XM_017017786.2:c.1674G>T, XM_017017786.1:c.1674G>T, XR_001747888.2:n.1771G>T, XR_001747888.1:n.1689G>T, XR_001747889.2:n.1771G>T, XR_001747889.1:n.1689G>T, XM_017017787.2:c.1674G>T, XM_017017787.1:c.1674G>T, NM_001127179.2:c.1584G>T, XM_047426970.1:c.1584G>T, XM_047426973.1:c.1551G>T, XM_047426971.1:c.1353G>T, XM_047426972.1:c.1674G>T, XM_047426974.1:c.1674G>T

                                  17.

                                  rs1481947605 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:77208772 (GRCh38)
                                    11:76919817 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:77208771:C:T
                                    Gene:
                                    MYO7A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.77208772C>T, NC_000011.9:g.76919817C>T, NG_009086.2:g.85527C>T, NM_000260.4:c.6020C>T, NM_000260.3:c.6020C>T, NM_001127180.2:c.5906C>T, NM_001127180.1:c.5906C>T, NM_001369365.1:c.5873C>T, XM_011545044.3:c.6020C>T, XM_011545044.2:c.6020C>T, XM_011545044.1:c.6020C>T, XM_011545046.3:c.6110C>T, XM_011545046.2:c.6110C>T, XM_011545046.1:c.5987C>T, XM_011545050.3:c.5756C>T, XM_011545050.2:c.5756C>T, XM_011545050.1:c.5756C>T, XM_017017780.2:c.6110C>T, XM_017017780.1:c.6110C>T, XM_017017788.2:c.5996C>T, XM_017017788.1:c.5996C>T, XM_017017784.2:c.5993C>T, XM_017017784.1:c.5993C>T, XM_017017778.2:c.6104C>T, XM_017017778.1:c.6104C>T, XM_017017779.2:c.6101C>T, XM_017017779.1:c.6101C>T, XM_017017781.2:c.6014C>T, XM_017017781.1:c.6014C>T, XM_017017782.2:c.5996C>T, XM_017017782.1:c.5996C>T, XM_017017783.2:c.5993C>T, XM_017017783.1:c.5993C>T, XM_017017785.2:c.5873C>T, XM_017017785.1:c.5873C>T, XM_017017786.2:c.6110C>T, XM_017017786.1:c.6110C>T, XM_047426970.1:c.5924C>T, XM_047426973.1:c.5987C>T, XM_047426971.1:c.5783C>T, XM_047426972.1:c.6084C>T, NP_000251.3:p.Pro2007Leu, NP_001120652.1:p.Pro1969Leu, NP_001356294.1:p.Pro1958Leu, XP_011543346.1:p.Pro2007Leu, XP_011543348.2:p.Pro2037Leu, XP_011543352.1:p.Pro1919Leu, XP_016873269.1:p.Pro2037Leu, XP_016873277.1:p.Pro1999Leu, XP_016873273.1:p.Pro1998Leu, XP_016873267.1:p.Pro2035Leu, XP_016873268.1:p.Pro2034Leu, XP_016873270.1:p.Pro2005Leu, XP_016873271.1:p.Pro1999Leu, XP_016873272.1:p.Pro1998Leu, XP_016873274.1:p.Pro1958Leu, XP_016873275.1:p.Pro2037Leu, XP_047282926.1:p.Pro1975Leu, XP_047282929.1:p.Pro1996Leu, XP_047282927.1:p.Pro1928Leu

                                    18.

                                    rs1481841012 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      11:77213943 (GRCh38)
                                      11:76924988 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:77213942:G:C
                                      Gene:
                                      MYO7A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_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=0.000021/3 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1481506095 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:77208438 (GRCh38)
                                        11:76919483 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:77208437:C:T
                                        Gene:
                                        MYO7A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                        Clinical significance:
                                        likely-benign
                                        HGVS:
                                        NC_000011.10:g.77208438C>T, NC_000011.9:g.76919483C>T, NG_009086.2:g.85193C>T, NM_000260.4:c.5865C>T, NM_000260.3:c.5865C>T, NM_001127180.2:c.5751C>T, NM_001127180.1:c.5751C>T, NM_001369365.1:c.5718C>T, XM_011545044.3:c.5865C>T, XM_011545044.2:c.5865C>T, XM_011545044.1:c.5865C>T, XM_011545046.3:c.5955C>T, XM_011545046.2:c.5955C>T, XM_011545046.1:c.5832C>T, XM_011545050.3:c.5601C>T, XM_011545050.2:c.5601C>T, XM_011545050.1:c.5601C>T, XM_017017780.2:c.5955C>T, XM_017017780.1:c.5955C>T, XM_017017788.2:c.5841C>T, XM_017017788.1:c.5841C>T, XM_017017784.2:c.5838C>T, XM_017017784.1:c.5838C>T, XM_017017778.2:c.5949C>T, XM_017017778.1:c.5949C>T, XM_017017779.2:c.5946C>T, XM_017017779.1:c.5946C>T, XM_017017781.2:c.5859C>T, XM_017017781.1:c.5859C>T, XM_017017782.2:c.5841C>T, XM_017017782.1:c.5841C>T, XM_017017783.2:c.5838C>T, XM_017017783.1:c.5838C>T, XM_017017785.2:c.5718C>T, XM_017017785.1:c.5718C>T, XM_017017786.2:c.5955C>T, XM_017017786.1:c.5955C>T, XM_047426970.1:c.5769C>T, XM_047426973.1:c.5832C>T, XM_047426971.1:c.5628C>T, XM_047426972.1:c.5955C>T

                                        20.

                                        rs1481005739 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:77158352 (GRCh38)
                                          11:76869398 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:77158351:A:G
                                          Gene:
                                          MYO7A (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.77158352A>G, NC_000011.9:g.76869398A>G, NG_009086.2:g.35107A>G, NM_000260.4:c.925A>G, NM_000260.3:c.925A>G, NM_001127180.2:c.925A>G, NM_001127180.1:c.925A>G, NM_001369365.1:c.892A>G, NW_003871081.1:g.159988A>G, XM_011545044.3:c.925A>G, XM_011545044.2:c.925A>G, XM_011545044.1:c.925A>G, XM_011545046.3:c.1015A>G, XM_011545046.2:c.1015A>G, XM_011545046.1:c.892A>G, XM_011545050.3:c.667A>G, XM_011545050.2:c.667A>G, XM_011545050.1:c.667A>G, XM_017017780.2:c.1015A>G, XM_017017780.1:c.1015A>G, XM_017017788.2:c.1015A>G, XM_017017788.1:c.1015A>G, XM_017017784.2:c.1015A>G, XM_017017784.1:c.1015A>G, XM_017017778.2:c.1015A>G, XM_017017778.1:c.1015A>G, XM_017017779.2:c.1015A>G, XM_017017779.1:c.1015A>G, XM_017017781.2:c.1015A>G, XM_017017781.1:c.1015A>G, XM_017017782.2:c.1015A>G, XM_017017782.1:c.1015A>G, XM_017017783.2:c.1015A>G, XM_017017783.1:c.1015A>G, XM_017017786.2:c.1015A>G, XM_017017786.1:c.1015A>G, XR_001747888.2:n.1112A>G, XR_001747888.1:n.1030A>G, XR_001747889.2:n.1112A>G, XR_001747889.1:n.1030A>G, XM_017017787.2:c.1015A>G, XM_017017787.1:c.1015A>G, NM_001127179.2:c.925A>G, XM_047426970.1:c.925A>G, XM_047426973.1:c.892A>G, XM_047426972.1:c.1015A>G, XM_047426974.1:c.1015A>G, NP_000251.3:p.Met309Val, NP_001120652.1:p.Met309Val, NP_001356294.1:p.Met298Val, XP_011543346.1:p.Met309Val, XP_011543348.2:p.Met339Val, XP_011543352.1:p.Met223Val, XP_016873269.1:p.Met339Val, XP_016873277.1:p.Met339Val, XP_016873273.1:p.Met339Val, XP_016873267.1:p.Met339Val, XP_016873268.1:p.Met339Val, XP_016873270.1:p.Met339Val, XP_016873271.1:p.Met339Val, XP_016873272.1:p.Met339Val, XP_016873275.1:p.Met339Val, XP_016873276.1:p.Met339Val, XP_047282926.1:p.Met309Val, XP_047282929.1:p.Met298Val, XP_047282928.1:p.Met339Val, XP_047282930.1:p.Met339Val

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