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Items: 1 to 20 of 1085

1.

rs1490234810 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:27778578 (GRCh38)
    16:27789899 (GRCh37)
    Canonical SPDI:
    NC_000016.10:27778577:A:G
    Gene:
    KATNIP (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.27778578A>G, NC_000016.9:g.27789899A>G, NG_046731.1:g.233432A>G, NM_015202.5:c.4806A>G, NM_015202.4:c.4806A>G, NM_015202.3:c.4806A>G, NM_015202.2:c.4806A>G, XM_005255201.4:c.4989A>G, XM_005255201.3:c.4989A>G, XM_005255201.2:c.4989A>G, XM_005255201.1:c.4989A>G, XM_005255202.4:c.4935A>G, XM_005255202.3:c.4935A>G, XM_005255202.2:c.4935A>G, XM_005255202.1:c.4935A>G, XM_005255203.4:c.4860A>G, XM_005255203.3:c.4860A>G, XM_005255203.2:c.4860A>G, XM_005255203.1:c.4860A>G, XM_006721025.4:c.4728A>G, XM_006721025.3:c.4728A>G, XM_006721025.2:c.4728A>G, XM_006721025.1:c.4728A>G, XM_011545773.3:c.4911A>G, XM_011545773.2:c.4911A>G, XM_011545773.1:c.4911A>G, XM_011545774.3:c.4911A>G, XM_011545774.2:c.4911A>G, XM_011545774.1:c.4911A>G, XM_011545775.3:c.4869A>G, XM_011545775.2:c.4869A>G, XM_011545775.1:c.4869A>G, XM_011545776.3:c.4857A>G, XM_011545776.2:c.4857A>G, XM_011545776.1:c.4857A>G, XM_005255208.3:c.3585A>G, XM_005255208.2:c.3585A>G, XM_005255208.1:c.3585A>G, XM_011545777.3:c.2910A>G, XM_011545777.2:c.2910A>G, XM_011545777.1:c.2910A>G, XM_024450216.2:c.4803A>G, XM_024450216.1:c.4803A>G, XM_017023085.2:c.4740A>G, XM_017023085.1:c.4740A>G, XM_017023087.2:c.4674A>G, XM_017023087.1:c.4674A>G, XM_047433844.1:c.4323A>G, XM_047433842.1:c.4737A>G, XM_047433843.1:c.4608A>G, XM_047433845.1:c.3684A>G

    2.

    rs1489957769 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      16:27740567 (GRCh38)
      16:27751888 (GRCh37)
      Canonical SPDI:
      NC_000016.10:27740566:C:A
      Gene:
      KATNIP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000224/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000223/1 (Estonian)
      HGVS:
      NC_000016.10:g.27740567C>A, NC_000016.9:g.27751888C>A, NG_046731.1:g.195421C>A, NM_015202.5:c.2270C>A, NM_015202.4:c.2270C>A, NM_015202.3:c.2270C>A, NM_015202.2:c.2270C>A, XM_005255201.4:c.2453C>A, XM_005255201.3:c.2453C>A, XM_005255201.2:c.2453C>A, XM_005255201.1:c.2453C>A, XM_005255202.4:c.2399C>A, XM_005255202.3:c.2399C>A, XM_005255202.2:c.2399C>A, XM_005255202.1:c.2399C>A, XM_005255203.4:c.2324C>A, XM_005255203.3:c.2324C>A, XM_005255203.2:c.2324C>A, XM_005255203.1:c.2324C>A, XM_006721025.4:c.2192C>A, XM_006721025.3:c.2192C>A, XM_006721025.2:c.2192C>A, XM_006721025.1:c.2192C>A, XM_005255206.4:c.2453C>A, XM_005255206.3:c.2453C>A, XM_005255206.2:c.2453C>A, XM_005255206.1:c.2453C>A, XM_011545773.3:c.2375C>A, XM_011545773.2:c.2375C>A, XM_011545773.1:c.2375C>A, XM_011545774.3:c.2375C>A, XM_011545774.2:c.2375C>A, XM_011545774.1:c.2375C>A, XM_011545775.3:c.2333C>A, XM_011545775.2:c.2333C>A, XM_011545775.1:c.2333C>A, XM_011545776.3:c.2321C>A, XM_011545776.2:c.2321C>A, XM_011545776.1:c.2321C>A, XM_005255208.3:c.1049C>A, XM_005255208.2:c.1049C>A, XM_005255208.1:c.1049C>A, XM_011545777.3:c.374C>A, XM_011545777.2:c.374C>A, XM_011545777.1:c.374C>A, XM_024450216.2:c.2267C>A, XM_024450216.1:c.2267C>A, XM_017023085.2:c.2204C>A, XM_017023085.1:c.2204C>A, XM_017023087.2:c.2138C>A, XM_017023087.1:c.2138C>A, XM_047433844.1:c.1787C>A, XM_047433842.1:c.2201C>A, XM_047433843.1:c.2072C>A, XM_047433845.1:c.1148C>A, XM_047433846.1:c.2333C>A, NP_056017.4:p.Pro757His, XP_005255258.1:p.Pro818His, XP_005255259.1:p.Pro800His, XP_005255260.1:p.Pro775His, XP_006721088.1:p.Pro731His, XP_005255263.1:p.Pro818His, XP_011544075.1:p.Pro792His, XP_011544076.1:p.Pro792His, XP_011544077.1:p.Pro778His, XP_011544078.1:p.Pro774His, XP_005255265.1:p.Pro350His, XP_011544079.1:p.Pro125His, XP_024305984.1:p.Pro756His, XP_016878574.1:p.Pro735His, XP_016878576.1:p.Pro713His, XP_047289800.1:p.Pro596His, XP_047289798.1:p.Pro734His, XP_047289799.1:p.Pro691His, XP_047289801.1:p.Pro383His, XP_047289802.1:p.Pro778His

      3.

      rs1487570244 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:27775041 (GRCh38)
        16:27786362 (GRCh37)
        Canonical SPDI:
        NC_000016.10:27775040:G:A
        Gene:
        KATNIP (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_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_000016.10:g.27775041G>A, NC_000016.9:g.27786362G>A, NG_046731.1:g.229895G>A, NM_015202.5:c.4406G>A, NM_015202.4:c.4406G>A, NM_015202.3:c.4406G>A, NM_015202.2:c.4406G>A, XM_005255201.4:c.4589G>A, XM_005255201.3:c.4589G>A, XM_005255201.2:c.4589G>A, XM_005255201.1:c.4589G>A, XM_005255202.4:c.4535G>A, XM_005255202.3:c.4535G>A, XM_005255202.2:c.4535G>A, XM_005255202.1:c.4535G>A, XM_005255203.4:c.4460G>A, XM_005255203.3:c.4460G>A, XM_005255203.2:c.4460G>A, XM_005255203.1:c.4460G>A, XM_006721025.4:c.4328G>A, XM_006721025.3:c.4328G>A, XM_006721025.2:c.4328G>A, XM_006721025.1:c.4328G>A, XM_011545773.3:c.4511G>A, XM_011545773.2:c.4511G>A, XM_011545773.1:c.4511G>A, XM_011545774.3:c.4511G>A, XM_011545774.2:c.4511G>A, XM_011545774.1:c.4511G>A, XM_011545775.3:c.4469G>A, XM_011545775.2:c.4469G>A, XM_011545775.1:c.4469G>A, XM_011545776.3:c.4457G>A, XM_011545776.2:c.4457G>A, XM_011545776.1:c.4457G>A, XM_005255208.3:c.3185G>A, XM_005255208.2:c.3185G>A, XM_005255208.1:c.3185G>A, XM_011545777.3:c.2510G>A, XM_011545777.2:c.2510G>A, XM_011545777.1:c.2510G>A, XM_024450216.2:c.4403G>A, XM_024450216.1:c.4403G>A, XM_017023085.2:c.4340G>A, XM_017023085.1:c.4340G>A, XM_017023087.2:c.4274G>A, XM_017023087.1:c.4274G>A, XM_047433844.1:c.3923G>A, XM_047433842.1:c.4337G>A, XM_047433843.1:c.4208G>A, XM_047433845.1:c.3284G>A, NP_056017.4:p.Ser1469Asn, XP_005255258.1:p.Ser1530Asn, XP_005255259.1:p.Ser1512Asn, XP_005255260.1:p.Ser1487Asn, XP_006721088.1:p.Ser1443Asn, XP_011544075.1:p.Ser1504Asn, XP_011544076.1:p.Ser1504Asn, XP_011544077.1:p.Ser1490Asn, XP_011544078.1:p.Ser1486Asn, XP_005255265.1:p.Ser1062Asn, XP_011544079.1:p.Ser837Asn, XP_024305984.1:p.Ser1468Asn, XP_016878574.1:p.Ser1447Asn, XP_016878576.1:p.Ser1425Asn, XP_047289800.1:p.Ser1308Asn, XP_047289798.1:p.Ser1446Asn, XP_047289799.1:p.Ser1403Asn, XP_047289801.1:p.Ser1095Asn

        4.

        rs1486625508 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          16:27751721 (GRCh38)
          16:27763042 (GRCh37)
          Canonical SPDI:
          NC_000016.10:27751720:C:G,NC_000016.10:27751720:C:T
          Gene:
          KATNIP (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          T=0.000014/2 (GnomAD)
          T=0.000026/7 (TOPMED)
          HGVS:
          NC_000016.10:g.27751721C>G, NC_000016.10:g.27751721C>T, NC_000016.9:g.27763042C>G, NC_000016.9:g.27763042C>T, NG_046731.1:g.206575C>G, NG_046731.1:g.206575C>T, NM_015202.5:c.3349C>G, NM_015202.5:c.3349C>T, NM_015202.4:c.3349C>G, NM_015202.4:c.3349C>T, NM_015202.3:c.3349C>G, NM_015202.3:c.3349C>T, NM_015202.2:c.3349C>G, NM_015202.2:c.3349C>T, XM_005255201.4:c.3532C>G, XM_005255201.4:c.3532C>T, XM_005255201.3:c.3532C>G, XM_005255201.3:c.3532C>T, XM_005255201.2:c.3532C>G, XM_005255201.2:c.3532C>T, XM_005255201.1:c.3532C>G, XM_005255201.1:c.3532C>T, XM_005255202.4:c.3478C>G, XM_005255202.4:c.3478C>T, XM_005255202.3:c.3478C>G, XM_005255202.3:c.3478C>T, XM_005255202.2:c.3478C>G, XM_005255202.2:c.3478C>T, XM_005255202.1:c.3478C>G, XM_005255202.1:c.3478C>T, XM_005255203.4:c.3403C>G, XM_005255203.4:c.3403C>T, XM_005255203.3:c.3403C>G, XM_005255203.3:c.3403C>T, XM_005255203.2:c.3403C>G, XM_005255203.2:c.3403C>T, XM_005255203.1:c.3403C>G, XM_005255203.1:c.3403C>T, XM_006721025.4:c.3271C>G, XM_006721025.4:c.3271C>T, XM_006721025.3:c.3271C>G, XM_006721025.3:c.3271C>T, XM_006721025.2:c.3271C>G, XM_006721025.2:c.3271C>T, XM_006721025.1:c.3271C>G, XM_006721025.1:c.3271C>T, XM_005255206.4:c.3532C>G, XM_005255206.4:c.3532C>T, XM_005255206.3:c.3532C>G, XM_005255206.3:c.3532C>T, XM_005255206.2:c.3532C>G, XM_005255206.2:c.3532C>T, XM_005255206.1:c.3532C>G, XM_005255206.1:c.3532C>T, XM_011545773.3:c.3454C>G, XM_011545773.3:c.3454C>T, XM_011545773.2:c.3454C>G, XM_011545773.2:c.3454C>T, XM_011545773.1:c.3454C>G, XM_011545773.1:c.3454C>T, XM_011545774.3:c.3454C>G, XM_011545774.3:c.3454C>T, XM_011545774.2:c.3454C>G, XM_011545774.2:c.3454C>T, XM_011545774.1:c.3454C>G, XM_011545774.1:c.3454C>T, XM_011545775.3:c.3412C>G, XM_011545775.3:c.3412C>T, XM_011545775.2:c.3412C>G, XM_011545775.2:c.3412C>T, XM_011545775.1:c.3412C>G, XM_011545775.1:c.3412C>T, XM_011545776.3:c.3400C>G, XM_011545776.3:c.3400C>T, XM_011545776.2:c.3400C>G, XM_011545776.2:c.3400C>T, XM_011545776.1:c.3400C>G, XM_011545776.1:c.3400C>T, XM_005255208.3:c.2128C>G, XM_005255208.3:c.2128C>T, XM_005255208.2:c.2128C>G, XM_005255208.2:c.2128C>T, XM_005255208.1:c.2128C>G, XM_005255208.1:c.2128C>T, XM_011545777.3:c.1453C>G, XM_011545777.3:c.1453C>T, XM_011545777.2:c.1453C>G, XM_011545777.2:c.1453C>T, XM_011545777.1:c.1453C>G, XM_011545777.1:c.1453C>T, XM_024450216.2:c.3346C>G, XM_024450216.2:c.3346C>T, XM_024450216.1:c.3346C>G, XM_024450216.1:c.3346C>T, XM_017023085.2:c.3283C>G, XM_017023085.2:c.3283C>T, XM_017023085.1:c.3283C>G, XM_017023085.1:c.3283C>T, XM_017023087.2:c.3217C>G, XM_017023087.2:c.3217C>T, XM_017023087.1:c.3217C>G, XM_017023087.1:c.3217C>T, XM_047433844.1:c.2866C>G, XM_047433844.1:c.2866C>T, XM_047433842.1:c.3280C>G, XM_047433842.1:c.3280C>T, XM_047433843.1:c.3151C>G, XM_047433843.1:c.3151C>T, XM_047433845.1:c.2227C>G, XM_047433845.1:c.2227C>T, XM_047433846.1:c.3412C>G, XM_047433846.1:c.3412C>T, NP_056017.4:p.Pro1117Ala, NP_056017.4:p.Pro1117Ser, XP_005255258.1:p.Pro1178Ala, XP_005255258.1:p.Pro1178Ser, XP_005255259.1:p.Pro1160Ala, XP_005255259.1:p.Pro1160Ser, XP_005255260.1:p.Pro1135Ala, XP_005255260.1:p.Pro1135Ser, XP_006721088.1:p.Pro1091Ala, XP_006721088.1:p.Pro1091Ser, XP_005255263.1:p.Pro1178Ala, XP_005255263.1:p.Pro1178Ser, XP_011544075.1:p.Pro1152Ala, XP_011544075.1:p.Pro1152Ser, XP_011544076.1:p.Pro1152Ala, XP_011544076.1:p.Pro1152Ser, XP_011544077.1:p.Pro1138Ala, XP_011544077.1:p.Pro1138Ser, XP_011544078.1:p.Pro1134Ala, XP_011544078.1:p.Pro1134Ser, XP_005255265.1:p.Pro710Ala, XP_005255265.1:p.Pro710Ser, XP_011544079.1:p.Pro485Ala, XP_011544079.1:p.Pro485Ser, XP_024305984.1:p.Pro1116Ala, XP_024305984.1:p.Pro1116Ser, XP_016878574.1:p.Pro1095Ala, XP_016878574.1:p.Pro1095Ser, XP_016878576.1:p.Pro1073Ala, XP_016878576.1:p.Pro1073Ser, XP_047289800.1:p.Pro956Ala, XP_047289800.1:p.Pro956Ser, XP_047289798.1:p.Pro1094Ala, XP_047289798.1:p.Pro1094Ser, XP_047289799.1:p.Pro1051Ala, XP_047289799.1:p.Pro1051Ser, XP_047289801.1:p.Pro743Ala, XP_047289801.1:p.Pro743Ser, XP_047289802.1:p.Pro1138Ala, XP_047289802.1:p.Pro1138Ser

          5.

          rs1486137362 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:27766443 (GRCh38)
            16:27777764 (GRCh37)
            Canonical SPDI:
            NC_000016.10:27766442:A:G
            Gene:
            KATNIP (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.27766443A>G, NC_000016.9:g.27777764A>G, NG_046731.1:g.221297A>G, NM_015202.5:c.3944A>G, NM_015202.4:c.3944A>G, NM_015202.3:c.3944A>G, NM_015202.2:c.3944A>G, XM_005255201.4:c.4127A>G, XM_005255201.3:c.4127A>G, XM_005255201.2:c.4127A>G, XM_005255201.1:c.4127A>G, XM_005255202.4:c.4073A>G, XM_005255202.3:c.4073A>G, XM_005255202.2:c.4073A>G, XM_005255202.1:c.4073A>G, XM_005255203.4:c.3998A>G, XM_005255203.3:c.3998A>G, XM_005255203.2:c.3998A>G, XM_005255203.1:c.3998A>G, XM_006721025.4:c.3866A>G, XM_006721025.3:c.3866A>G, XM_006721025.2:c.3866A>G, XM_006721025.1:c.3866A>G, XM_011545773.3:c.4049A>G, XM_011545773.2:c.4049A>G, XM_011545773.1:c.4049A>G, XM_011545774.3:c.4049A>G, XM_011545774.2:c.4049A>G, XM_011545774.1:c.4049A>G, XM_011545775.3:c.4007A>G, XM_011545775.2:c.4007A>G, XM_011545775.1:c.4007A>G, XM_011545776.3:c.3995A>G, XM_011545776.2:c.3995A>G, XM_011545776.1:c.3995A>G, XM_005255208.3:c.2723A>G, XM_005255208.2:c.2723A>G, XM_005255208.1:c.2723A>G, XM_011545777.3:c.2048A>G, XM_011545777.2:c.2048A>G, XM_011545777.1:c.2048A>G, XM_024450216.2:c.3941A>G, XM_024450216.1:c.3941A>G, XM_017023085.2:c.3878A>G, XM_017023085.1:c.3878A>G, XM_017023087.2:c.3812A>G, XM_017023087.1:c.3812A>G, XM_047433844.1:c.3461A>G, XM_047433842.1:c.3875A>G, XM_047433843.1:c.3746A>G, XM_047433845.1:c.2822A>G, NP_056017.4:p.Tyr1315Cys, XP_005255258.1:p.Tyr1376Cys, XP_005255259.1:p.Tyr1358Cys, XP_005255260.1:p.Tyr1333Cys, XP_006721088.1:p.Tyr1289Cys, XP_011544075.1:p.Tyr1350Cys, XP_011544076.1:p.Tyr1350Cys, XP_011544077.1:p.Tyr1336Cys, XP_011544078.1:p.Tyr1332Cys, XP_005255265.1:p.Tyr908Cys, XP_011544079.1:p.Tyr683Cys, XP_024305984.1:p.Tyr1314Cys, XP_016878574.1:p.Tyr1293Cys, XP_016878576.1:p.Tyr1271Cys, XP_047289800.1:p.Tyr1154Cys, XP_047289798.1:p.Tyr1292Cys, XP_047289799.1:p.Tyr1249Cys, XP_047289801.1:p.Tyr941Cys

            6.

            rs1485190434 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:27761435 (GRCh38)
              16:27772756 (GRCh37)
              Canonical SPDI:
              NC_000016.10:27761434:C:T
              Gene:
              KATNIP (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000016.10:g.27761435C>T, NC_000016.9:g.27772756C>T, NG_046731.1:g.216289C>T, NM_015202.5:c.3654C>T, NM_015202.4:c.3654C>T, NM_015202.3:c.3654C>T, NM_015202.2:c.3654C>T, XM_005255201.4:c.3837C>T, XM_005255201.3:c.3837C>T, XM_005255201.2:c.3837C>T, XM_005255201.1:c.3837C>T, XM_005255202.4:c.3783C>T, XM_005255202.3:c.3783C>T, XM_005255202.2:c.3783C>T, XM_005255202.1:c.3783C>T, XM_005255203.4:c.3708C>T, XM_005255203.3:c.3708C>T, XM_005255203.2:c.3708C>T, XM_005255203.1:c.3708C>T, XM_006721025.4:c.3576C>T, XM_006721025.3:c.3576C>T, XM_006721025.2:c.3576C>T, XM_006721025.1:c.3576C>T, XM_005255206.4:c.*11C>T, XM_005255206.3:c.*11C>T, XM_005255206.2:c.*11C>T, XM_005255206.1:c.*11C>T, XM_011545773.3:c.3759C>T, XM_011545773.2:c.3759C>T, XM_011545773.1:c.3759C>T, XM_011545774.3:c.3759C>T, XM_011545774.2:c.3759C>T, XM_011545774.1:c.3759C>T, XM_011545775.3:c.3717C>T, XM_011545775.2:c.3717C>T, XM_011545775.1:c.3717C>T, XM_011545776.3:c.3705C>T, XM_011545776.2:c.3705C>T, XM_011545776.1:c.3705C>T, XM_005255208.3:c.2433C>T, XM_005255208.2:c.2433C>T, XM_005255208.1:c.2433C>T, XM_011545777.3:c.1758C>T, XM_011545777.2:c.1758C>T, XM_011545777.1:c.1758C>T, XM_024450216.2:c.3651C>T, XM_024450216.1:c.3651C>T, XM_017023085.2:c.3588C>T, XM_017023085.1:c.3588C>T, XM_017023087.2:c.3522C>T, XM_017023087.1:c.3522C>T, XM_047433844.1:c.3171C>T, XM_047433842.1:c.3585C>T, XM_047433843.1:c.3456C>T, XM_047433845.1:c.2532C>T, XM_047433846.1:c.*11C>T

              7.

              rs1483221556 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:27769946 (GRCh38)
                16:27781267 (GRCh37)
                Canonical SPDI:
                NC_000016.10:27769945:A:G
                Gene:
                KATNIP (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_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_000016.10:g.27769946A>G, NC_000016.9:g.27781267A>G, NG_046731.1:g.224800A>G, NM_015202.5:c.4061A>G, NM_015202.4:c.4061A>G, NM_015202.3:c.4061A>G, NM_015202.2:c.4061A>G, XM_005255201.4:c.4244A>G, XM_005255201.3:c.4244A>G, XM_005255201.2:c.4244A>G, XM_005255201.1:c.4244A>G, XM_005255202.4:c.4190A>G, XM_005255202.3:c.4190A>G, XM_005255202.2:c.4190A>G, XM_005255202.1:c.4190A>G, XM_005255203.4:c.4115A>G, XM_005255203.3:c.4115A>G, XM_005255203.2:c.4115A>G, XM_005255203.1:c.4115A>G, XM_006721025.4:c.3983A>G, XM_006721025.3:c.3983A>G, XM_006721025.2:c.3983A>G, XM_006721025.1:c.3983A>G, XM_011545773.3:c.4166A>G, XM_011545773.2:c.4166A>G, XM_011545773.1:c.4166A>G, XM_011545774.3:c.4166A>G, XM_011545774.2:c.4166A>G, XM_011545774.1:c.4166A>G, XM_011545775.3:c.4124A>G, XM_011545775.2:c.4124A>G, XM_011545775.1:c.4124A>G, XM_011545776.3:c.4112A>G, XM_011545776.2:c.4112A>G, XM_011545776.1:c.4112A>G, XM_005255208.3:c.2840A>G, XM_005255208.2:c.2840A>G, XM_005255208.1:c.2840A>G, XM_011545777.3:c.2165A>G, XM_011545777.2:c.2165A>G, XM_011545777.1:c.2165A>G, XM_024450216.2:c.4058A>G, XM_024450216.1:c.4058A>G, XM_017023085.2:c.3995A>G, XM_017023085.1:c.3995A>G, XM_017023087.2:c.3929A>G, XM_017023087.1:c.3929A>G, XM_047433844.1:c.3578A>G, XM_047433842.1:c.3992A>G, XM_047433843.1:c.3863A>G, XM_047433845.1:c.2939A>G, NP_056017.4:p.His1354Arg, XP_005255258.1:p.His1415Arg, XP_005255259.1:p.His1397Arg, XP_005255260.1:p.His1372Arg, XP_006721088.1:p.His1328Arg, XP_011544075.1:p.His1389Arg, XP_011544076.1:p.His1389Arg, XP_011544077.1:p.His1375Arg, XP_011544078.1:p.His1371Arg, XP_005255265.1:p.His947Arg, XP_011544079.1:p.His722Arg, XP_024305984.1:p.His1353Arg, XP_016878574.1:p.His1332Arg, XP_016878576.1:p.His1310Arg, XP_047289800.1:p.His1193Arg, XP_047289798.1:p.His1331Arg, XP_047289799.1:p.His1288Arg, XP_047289801.1:p.His980Arg

                8.

                rs1483197865 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:27775046 (GRCh38)
                  16:27786367 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:27775045:G:A,NC_000016.10:27775045:G:C
                  Gene:
                  KATNIP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000031/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000016.10:g.27775046G>A, NC_000016.10:g.27775046G>C, NC_000016.9:g.27786367G>A, NC_000016.9:g.27786367G>C, NG_046731.1:g.229900G>A, NG_046731.1:g.229900G>C, NM_015202.5:c.4411G>A, NM_015202.5:c.4411G>C, NM_015202.4:c.4411G>A, NM_015202.4:c.4411G>C, NM_015202.3:c.4411G>A, NM_015202.3:c.4411G>C, NM_015202.2:c.4411G>A, NM_015202.2:c.4411G>C, XM_005255201.4:c.4594G>A, XM_005255201.4:c.4594G>C, XM_005255201.3:c.4594G>A, XM_005255201.3:c.4594G>C, XM_005255201.2:c.4594G>A, XM_005255201.2:c.4594G>C, XM_005255201.1:c.4594G>A, XM_005255201.1:c.4594G>C, XM_005255202.4:c.4540G>A, XM_005255202.4:c.4540G>C, XM_005255202.3:c.4540G>A, XM_005255202.3:c.4540G>C, XM_005255202.2:c.4540G>A, XM_005255202.2:c.4540G>C, XM_005255202.1:c.4540G>A, XM_005255202.1:c.4540G>C, XM_005255203.4:c.4465G>A, XM_005255203.4:c.4465G>C, XM_005255203.3:c.4465G>A, XM_005255203.3:c.4465G>C, XM_005255203.2:c.4465G>A, XM_005255203.2:c.4465G>C, XM_005255203.1:c.4465G>A, XM_005255203.1:c.4465G>C, XM_006721025.4:c.4333G>A, XM_006721025.4:c.4333G>C, XM_006721025.3:c.4333G>A, XM_006721025.3:c.4333G>C, XM_006721025.2:c.4333G>A, XM_006721025.2:c.4333G>C, XM_006721025.1:c.4333G>A, XM_006721025.1:c.4333G>C, XM_011545773.3:c.4516G>A, XM_011545773.3:c.4516G>C, XM_011545773.2:c.4516G>A, XM_011545773.2:c.4516G>C, XM_011545773.1:c.4516G>A, XM_011545773.1:c.4516G>C, XM_011545774.3:c.4516G>A, XM_011545774.3:c.4516G>C, XM_011545774.2:c.4516G>A, XM_011545774.2:c.4516G>C, XM_011545774.1:c.4516G>A, XM_011545774.1:c.4516G>C, XM_011545775.3:c.4474G>A, XM_011545775.3:c.4474G>C, XM_011545775.2:c.4474G>A, XM_011545775.2:c.4474G>C, XM_011545775.1:c.4474G>A, XM_011545775.1:c.4474G>C, XM_011545776.3:c.4462G>A, XM_011545776.3:c.4462G>C, XM_011545776.2:c.4462G>A, XM_011545776.2:c.4462G>C, XM_011545776.1:c.4462G>A, XM_011545776.1:c.4462G>C, XM_005255208.3:c.3190G>A, XM_005255208.3:c.3190G>C, XM_005255208.2:c.3190G>A, XM_005255208.2:c.3190G>C, XM_005255208.1:c.3190G>A, XM_005255208.1:c.3190G>C, XM_011545777.3:c.2515G>A, XM_011545777.3:c.2515G>C, XM_011545777.2:c.2515G>A, XM_011545777.2:c.2515G>C, XM_011545777.1:c.2515G>A, XM_011545777.1:c.2515G>C, XM_024450216.2:c.4408G>A, XM_024450216.2:c.4408G>C, XM_024450216.1:c.4408G>A, XM_024450216.1:c.4408G>C, XM_017023085.2:c.4345G>A, XM_017023085.2:c.4345G>C, XM_017023085.1:c.4345G>A, XM_017023085.1:c.4345G>C, XM_017023087.2:c.4279G>A, XM_017023087.2:c.4279G>C, XM_017023087.1:c.4279G>A, XM_017023087.1:c.4279G>C, XM_047433844.1:c.3928G>A, XM_047433844.1:c.3928G>C, XM_047433842.1:c.4342G>A, XM_047433842.1:c.4342G>C, XM_047433843.1:c.4213G>A, XM_047433843.1:c.4213G>C, XM_047433845.1:c.3289G>A, XM_047433845.1:c.3289G>C, NP_056017.4:p.Gly1471Ser, NP_056017.4:p.Gly1471Arg, XP_005255258.1:p.Gly1532Ser, XP_005255258.1:p.Gly1532Arg, XP_005255259.1:p.Gly1514Ser, XP_005255259.1:p.Gly1514Arg, XP_005255260.1:p.Gly1489Ser, XP_005255260.1:p.Gly1489Arg, XP_006721088.1:p.Gly1445Ser, XP_006721088.1:p.Gly1445Arg, XP_011544075.1:p.Gly1506Ser, XP_011544075.1:p.Gly1506Arg, XP_011544076.1:p.Gly1506Ser, XP_011544076.1:p.Gly1506Arg, XP_011544077.1:p.Gly1492Ser, XP_011544077.1:p.Gly1492Arg, XP_011544078.1:p.Gly1488Ser, XP_011544078.1:p.Gly1488Arg, XP_005255265.1:p.Gly1064Ser, XP_005255265.1:p.Gly1064Arg, XP_011544079.1:p.Gly839Ser, XP_011544079.1:p.Gly839Arg, XP_024305984.1:p.Gly1470Ser, XP_024305984.1:p.Gly1470Arg, XP_016878574.1:p.Gly1449Ser, XP_016878574.1:p.Gly1449Arg, XP_016878576.1:p.Gly1427Ser, XP_016878576.1:p.Gly1427Arg, XP_047289800.1:p.Gly1310Ser, XP_047289800.1:p.Gly1310Arg, XP_047289798.1:p.Gly1448Ser, XP_047289798.1:p.Gly1448Arg, XP_047289799.1:p.Gly1405Ser, XP_047289799.1:p.Gly1405Arg, XP_047289801.1:p.Gly1097Ser, XP_047289801.1:p.Gly1097Arg

                  9.

                  rs1482946210 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:27749729 (GRCh38)
                    16:27761050 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:27749728:C:T
                    Gene:
                    KATNIP (Varview), LOC105371157 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.27749729C>T, NC_000016.9:g.27761050C>T, NG_046731.1:g.204583C>T, NM_015202.5:c.2769C>T, NM_015202.4:c.2769C>T, NM_015202.3:c.2769C>T, NM_015202.2:c.2769C>T, XM_005255201.4:c.2952C>T, XM_005255201.3:c.2952C>T, XM_005255201.2:c.2952C>T, XM_005255201.1:c.2952C>T, XM_005255202.4:c.2898C>T, XM_005255202.3:c.2898C>T, XM_005255202.2:c.2898C>T, XM_005255202.1:c.2898C>T, XM_005255203.4:c.2823C>T, XM_005255203.3:c.2823C>T, XM_005255203.2:c.2823C>T, XM_005255203.1:c.2823C>T, XM_006721025.4:c.2691C>T, XM_006721025.3:c.2691C>T, XM_006721025.2:c.2691C>T, XM_006721025.1:c.2691C>T, XM_005255206.4:c.2952C>T, XM_005255206.3:c.2952C>T, XM_005255206.2:c.2952C>T, XM_005255206.1:c.2952C>T, XM_011545773.3:c.2874C>T, XM_011545773.2:c.2874C>T, XM_011545773.1:c.2874C>T, XM_011545774.3:c.2874C>T, XM_011545774.2:c.2874C>T, XM_011545774.1:c.2874C>T, XM_011545775.3:c.2832C>T, XM_011545775.2:c.2832C>T, XM_011545775.1:c.2832C>T, XM_011545776.3:c.2820C>T, XM_011545776.2:c.2820C>T, XM_011545776.1:c.2820C>T, XM_005255208.3:c.1548C>T, XM_005255208.2:c.1548C>T, XM_005255208.1:c.1548C>T, XM_011545777.3:c.873C>T, XM_011545777.2:c.873C>T, XM_011545777.1:c.873C>T, XM_024450216.2:c.2766C>T, XM_024450216.1:c.2766C>T, XM_017023085.2:c.2703C>T, XM_017023085.1:c.2703C>T, XM_017023087.2:c.2637C>T, XM_017023087.1:c.2637C>T, XM_047433844.1:c.2286C>T, XM_047433842.1:c.2700C>T, XM_047433843.1:c.2571C>T, XM_047433845.1:c.1647C>T, XM_047433846.1:c.2832C>T

                    10.

                    rs1481128804 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:27777729 (GRCh38)
                      16:27789050 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:27777728:G:A
                      Gene:
                      KATNIP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.27777729G>A, NC_000016.9:g.27789050G>A, NG_046731.1:g.232583G>A, NM_015202.5:c.4671G>A, NM_015202.4:c.4671G>A, NM_015202.3:c.4671G>A, NM_015202.2:c.4671G>A, XM_005255201.4:c.4854G>A, XM_005255201.3:c.4854G>A, XM_005255201.2:c.4854G>A, XM_005255201.1:c.4854G>A, XM_005255202.4:c.4800G>A, XM_005255202.3:c.4800G>A, XM_005255202.2:c.4800G>A, XM_005255202.1:c.4800G>A, XM_005255203.4:c.4725G>A, XM_005255203.3:c.4725G>A, XM_005255203.2:c.4725G>A, XM_005255203.1:c.4725G>A, XM_006721025.4:c.4593G>A, XM_006721025.3:c.4593G>A, XM_006721025.2:c.4593G>A, XM_006721025.1:c.4593G>A, XM_011545773.3:c.4776G>A, XM_011545773.2:c.4776G>A, XM_011545773.1:c.4776G>A, XM_011545774.3:c.4776G>A, XM_011545774.2:c.4776G>A, XM_011545774.1:c.4776G>A, XM_011545775.3:c.4734G>A, XM_011545775.2:c.4734G>A, XM_011545775.1:c.4734G>A, XM_011545776.3:c.4722G>A, XM_011545776.2:c.4722G>A, XM_011545776.1:c.4722G>A, XM_005255208.3:c.3450G>A, XM_005255208.2:c.3450G>A, XM_005255208.1:c.3450G>A, XM_011545777.3:c.2775G>A, XM_011545777.2:c.2775G>A, XM_011545777.1:c.2775G>A, XM_024450216.2:c.4668G>A, XM_024450216.1:c.4668G>A, XM_017023085.2:c.4605G>A, XM_017023085.1:c.4605G>A, XM_017023087.2:c.4539G>A, XM_017023087.1:c.4539G>A, XM_047433844.1:c.4188G>A, XM_047433842.1:c.4602G>A, XM_047433843.1:c.4473G>A, XM_047433845.1:c.3549G>A

                      11.

                      rs1480970210 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:27750260 (GRCh38)
                        16:27761581 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:27750259:C:T
                        Gene:
                        KATNIP (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.27750260C>T, NC_000016.9:g.27761581C>T, NG_046731.1:g.205114C>T, NM_015202.5:c.3300C>T, NM_015202.4:c.3300C>T, NM_015202.3:c.3300C>T, NM_015202.2:c.3300C>T, XM_005255201.4:c.3483C>T, XM_005255201.3:c.3483C>T, XM_005255201.2:c.3483C>T, XM_005255201.1:c.3483C>T, XM_005255202.4:c.3429C>T, XM_005255202.3:c.3429C>T, XM_005255202.2:c.3429C>T, XM_005255202.1:c.3429C>T, XM_005255203.4:c.3354C>T, XM_005255203.3:c.3354C>T, XM_005255203.2:c.3354C>T, XM_005255203.1:c.3354C>T, XM_006721025.4:c.3222C>T, XM_006721025.3:c.3222C>T, XM_006721025.2:c.3222C>T, XM_006721025.1:c.3222C>T, XM_005255206.4:c.3483C>T, XM_005255206.3:c.3483C>T, XM_005255206.2:c.3483C>T, XM_005255206.1:c.3483C>T, XM_011545773.3:c.3405C>T, XM_011545773.2:c.3405C>T, XM_011545773.1:c.3405C>T, XM_011545774.3:c.3405C>T, XM_011545774.2:c.3405C>T, XM_011545774.1:c.3405C>T, XM_011545775.3:c.3363C>T, XM_011545775.2:c.3363C>T, XM_011545775.1:c.3363C>T, XM_011545776.3:c.3351C>T, XM_011545776.2:c.3351C>T, XM_011545776.1:c.3351C>T, XM_005255208.3:c.2079C>T, XM_005255208.2:c.2079C>T, XM_005255208.1:c.2079C>T, XM_011545777.3:c.1404C>T, XM_011545777.2:c.1404C>T, XM_011545777.1:c.1404C>T, XM_024450216.2:c.3297C>T, XM_024450216.1:c.3297C>T, XM_017023085.2:c.3234C>T, XM_017023085.1:c.3234C>T, XM_017023087.2:c.3168C>T, XM_017023087.1:c.3168C>T, XM_047433844.1:c.2817C>T, XM_047433842.1:c.3231C>T, XM_047433843.1:c.3102C>T, XM_047433845.1:c.2178C>T, XM_047433846.1:c.3363C>T

                        12.

                        rs1480907829 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          16:27749777 (GRCh38)
                          16:27761098 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:27749776:C:G
                          Gene:
                          KATNIP (Varview), LOC105371157 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_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_000016.10:g.27749777C>G, NC_000016.9:g.27761098C>G, NG_046731.1:g.204631C>G, NM_015202.5:c.2817C>G, NM_015202.4:c.2817C>G, NM_015202.3:c.2817C>G, NM_015202.2:c.2817C>G, XM_005255201.4:c.3000C>G, XM_005255201.3:c.3000C>G, XM_005255201.2:c.3000C>G, XM_005255201.1:c.3000C>G, XM_005255202.4:c.2946C>G, XM_005255202.3:c.2946C>G, XM_005255202.2:c.2946C>G, XM_005255202.1:c.2946C>G, XM_005255203.4:c.2871C>G, XM_005255203.3:c.2871C>G, XM_005255203.2:c.2871C>G, XM_005255203.1:c.2871C>G, XM_006721025.4:c.2739C>G, XM_006721025.3:c.2739C>G, XM_006721025.2:c.2739C>G, XM_006721025.1:c.2739C>G, XM_005255206.4:c.3000C>G, XM_005255206.3:c.3000C>G, XM_005255206.2:c.3000C>G, XM_005255206.1:c.3000C>G, XM_011545773.3:c.2922C>G, XM_011545773.2:c.2922C>G, XM_011545773.1:c.2922C>G, XM_011545774.3:c.2922C>G, XM_011545774.2:c.2922C>G, XM_011545774.1:c.2922C>G, XM_011545775.3:c.2880C>G, XM_011545775.2:c.2880C>G, XM_011545775.1:c.2880C>G, XM_011545776.3:c.2868C>G, XM_011545776.2:c.2868C>G, XM_011545776.1:c.2868C>G, XM_005255208.3:c.1596C>G, XM_005255208.2:c.1596C>G, XM_005255208.1:c.1596C>G, XM_011545777.3:c.921C>G, XM_011545777.2:c.921C>G, XM_011545777.1:c.921C>G, XM_024450216.2:c.2814C>G, XM_024450216.1:c.2814C>G, XM_017023085.2:c.2751C>G, XM_017023085.1:c.2751C>G, XM_017023087.2:c.2685C>G, XM_017023087.1:c.2685C>G, XM_047433844.1:c.2334C>G, XM_047433842.1:c.2748C>G, XM_047433843.1:c.2619C>G, XM_047433845.1:c.1695C>G, XM_047433846.1:c.2880C>G

                          13.

                          rs1479117239 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:27740371 (GRCh38)
                            16:27751692 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:27740370:T:G
                            Gene:
                            KATNIP (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000016.10:g.27740371T>G, NC_000016.9:g.27751692T>G, NG_046731.1:g.195225T>G, NM_015202.5:c.2074T>G, NM_015202.4:c.2074T>G, NM_015202.3:c.2074T>G, NM_015202.2:c.2074T>G, XM_005255201.4:c.2257T>G, XM_005255201.3:c.2257T>G, XM_005255201.2:c.2257T>G, XM_005255201.1:c.2257T>G, XM_005255202.4:c.2203T>G, XM_005255202.3:c.2203T>G, XM_005255202.2:c.2203T>G, XM_005255202.1:c.2203T>G, XM_005255203.4:c.2128T>G, XM_005255203.3:c.2128T>G, XM_005255203.2:c.2128T>G, XM_005255203.1:c.2128T>G, XM_006721025.4:c.1996T>G, XM_006721025.3:c.1996T>G, XM_006721025.2:c.1996T>G, XM_006721025.1:c.1996T>G, XM_005255206.4:c.2257T>G, XM_005255206.3:c.2257T>G, XM_005255206.2:c.2257T>G, XM_005255206.1:c.2257T>G, XM_011545773.3:c.2179T>G, XM_011545773.2:c.2179T>G, XM_011545773.1:c.2179T>G, XM_011545774.3:c.2179T>G, XM_011545774.2:c.2179T>G, XM_011545774.1:c.2179T>G, XM_011545775.3:c.2137T>G, XM_011545775.2:c.2137T>G, XM_011545775.1:c.2137T>G, XM_011545776.3:c.2125T>G, XM_011545776.2:c.2125T>G, XM_011545776.1:c.2125T>G, XM_005255208.3:c.853T>G, XM_005255208.2:c.853T>G, XM_005255208.1:c.853T>G, XM_011545777.3:c.178T>G, XM_011545777.2:c.178T>G, XM_011545777.1:c.178T>G, XM_024450216.2:c.2071T>G, XM_024450216.1:c.2071T>G, XM_017023085.2:c.2008T>G, XM_017023085.1:c.2008T>G, XM_017023087.2:c.1942T>G, XM_017023087.1:c.1942T>G, XM_047433844.1:c.1591T>G, XM_047433842.1:c.2005T>G, XM_047433843.1:c.1876T>G, XM_047433845.1:c.952T>G, XM_047433846.1:c.2137T>G, NP_056017.4:p.Leu692Val, XP_005255258.1:p.Leu753Val, XP_005255259.1:p.Leu735Val, XP_005255260.1:p.Leu710Val, XP_006721088.1:p.Leu666Val, XP_005255263.1:p.Leu753Val, XP_011544075.1:p.Leu727Val, XP_011544076.1:p.Leu727Val, XP_011544077.1:p.Leu713Val, XP_011544078.1:p.Leu709Val, XP_005255265.1:p.Leu285Val, XP_011544079.1:p.Leu60Val, XP_024305984.1:p.Leu691Val, XP_016878574.1:p.Leu670Val, XP_016878576.1:p.Leu648Val, XP_047289800.1:p.Leu531Val, XP_047289798.1:p.Leu669Val, XP_047289799.1:p.Leu626Val, XP_047289801.1:p.Leu318Val, XP_047289802.1:p.Leu713Val

                            14.

                            rs1478861886 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              16:27749998 (GRCh38)
                              16:27761319 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:27749997:C:A
                              Gene:
                              KATNIP (Varview)
                              Functional Consequence:
                              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_000016.10:g.27749998C>A, NC_000016.9:g.27761319C>A, NG_046731.1:g.204852C>A, NM_015202.5:c.3038C>A, NM_015202.4:c.3038C>A, NM_015202.3:c.3038C>A, NM_015202.2:c.3038C>A, XM_005255201.4:c.3221C>A, XM_005255201.3:c.3221C>A, XM_005255201.2:c.3221C>A, XM_005255201.1:c.3221C>A, XM_005255202.4:c.3167C>A, XM_005255202.3:c.3167C>A, XM_005255202.2:c.3167C>A, XM_005255202.1:c.3167C>A, XM_005255203.4:c.3092C>A, XM_005255203.3:c.3092C>A, XM_005255203.2:c.3092C>A, XM_005255203.1:c.3092C>A, XM_006721025.4:c.2960C>A, XM_006721025.3:c.2960C>A, XM_006721025.2:c.2960C>A, XM_006721025.1:c.2960C>A, XM_005255206.4:c.3221C>A, XM_005255206.3:c.3221C>A, XM_005255206.2:c.3221C>A, XM_005255206.1:c.3221C>A, XM_011545773.3:c.3143C>A, XM_011545773.2:c.3143C>A, XM_011545773.1:c.3143C>A, XM_011545774.3:c.3143C>A, XM_011545774.2:c.3143C>A, XM_011545774.1:c.3143C>A, XM_011545775.3:c.3101C>A, XM_011545775.2:c.3101C>A, XM_011545775.1:c.3101C>A, XM_011545776.3:c.3089C>A, XM_011545776.2:c.3089C>A, XM_011545776.1:c.3089C>A, XM_005255208.3:c.1817C>A, XM_005255208.2:c.1817C>A, XM_005255208.1:c.1817C>A, XM_011545777.3:c.1142C>A, XM_011545777.2:c.1142C>A, XM_011545777.1:c.1142C>A, XM_024450216.2:c.3035C>A, XM_024450216.1:c.3035C>A, XM_017023085.2:c.2972C>A, XM_017023085.1:c.2972C>A, XM_017023087.2:c.2906C>A, XM_017023087.1:c.2906C>A, XM_047433844.1:c.2555C>A, XM_047433842.1:c.2969C>A, XM_047433843.1:c.2840C>A, XM_047433845.1:c.1916C>A, XM_047433846.1:c.3101C>A, NP_056017.4:p.Ala1013Glu, XP_005255258.1:p.Ala1074Glu, XP_005255259.1:p.Ala1056Glu, XP_005255260.1:p.Ala1031Glu, XP_006721088.1:p.Ala987Glu, XP_005255263.1:p.Ala1074Glu, XP_011544075.1:p.Ala1048Glu, XP_011544076.1:p.Ala1048Glu, XP_011544077.1:p.Ala1034Glu, XP_011544078.1:p.Ala1030Glu, XP_005255265.1:p.Ala606Glu, XP_011544079.1:p.Ala381Glu, XP_024305984.1:p.Ala1012Glu, XP_016878574.1:p.Ala991Glu, XP_016878576.1:p.Ala969Glu, XP_047289800.1:p.Ala852Glu, XP_047289798.1:p.Ala990Glu, XP_047289799.1:p.Ala947Glu, XP_047289801.1:p.Ala639Glu, XP_047289802.1:p.Ala1034Glu

                              15.

                              rs1477598079 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:27750017 (GRCh38)
                                16:27761338 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:27750016:T:C
                                Gene:
                                KATNIP (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.27750017T>C, NC_000016.9:g.27761338T>C, NG_046731.1:g.204871T>C, NM_015202.5:c.3057T>C, NM_015202.4:c.3057T>C, NM_015202.3:c.3057T>C, NM_015202.2:c.3057T>C, XM_005255201.4:c.3240T>C, XM_005255201.3:c.3240T>C, XM_005255201.2:c.3240T>C, XM_005255201.1:c.3240T>C, XM_005255202.4:c.3186T>C, XM_005255202.3:c.3186T>C, XM_005255202.2:c.3186T>C, XM_005255202.1:c.3186T>C, XM_005255203.4:c.3111T>C, XM_005255203.3:c.3111T>C, XM_005255203.2:c.3111T>C, XM_005255203.1:c.3111T>C, XM_006721025.4:c.2979T>C, XM_006721025.3:c.2979T>C, XM_006721025.2:c.2979T>C, XM_006721025.1:c.2979T>C, XM_005255206.4:c.3240T>C, XM_005255206.3:c.3240T>C, XM_005255206.2:c.3240T>C, XM_005255206.1:c.3240T>C, XM_011545773.3:c.3162T>C, XM_011545773.2:c.3162T>C, XM_011545773.1:c.3162T>C, XM_011545774.3:c.3162T>C, XM_011545774.2:c.3162T>C, XM_011545774.1:c.3162T>C, XM_011545775.3:c.3120T>C, XM_011545775.2:c.3120T>C, XM_011545775.1:c.3120T>C, XM_011545776.3:c.3108T>C, XM_011545776.2:c.3108T>C, XM_011545776.1:c.3108T>C, XM_005255208.3:c.1836T>C, XM_005255208.2:c.1836T>C, XM_005255208.1:c.1836T>C, XM_011545777.3:c.1161T>C, XM_011545777.2:c.1161T>C, XM_011545777.1:c.1161T>C, XM_024450216.2:c.3054T>C, XM_024450216.1:c.3054T>C, XM_017023085.2:c.2991T>C, XM_017023085.1:c.2991T>C, XM_017023087.2:c.2925T>C, XM_017023087.1:c.2925T>C, XM_047433844.1:c.2574T>C, XM_047433842.1:c.2988T>C, XM_047433843.1:c.2859T>C, XM_047433845.1:c.1935T>C, XM_047433846.1:c.3120T>C

                                16.

                                rs1476618618 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  16:27750281 (GRCh38)
                                  16:27761602 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:27750280:C:G
                                  Gene:
                                  KATNIP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.27750281C>G, NC_000016.9:g.27761602C>G, NG_046731.1:g.205135C>G, NM_015202.5:c.3321C>G, NM_015202.4:c.3321C>G, NM_015202.3:c.3321C>G, NM_015202.2:c.3321C>G, XM_005255201.4:c.3504C>G, XM_005255201.3:c.3504C>G, XM_005255201.2:c.3504C>G, XM_005255201.1:c.3504C>G, XM_005255202.4:c.3450C>G, XM_005255202.3:c.3450C>G, XM_005255202.2:c.3450C>G, XM_005255202.1:c.3450C>G, XM_005255203.4:c.3375C>G, XM_005255203.3:c.3375C>G, XM_005255203.2:c.3375C>G, XM_005255203.1:c.3375C>G, XM_006721025.4:c.3243C>G, XM_006721025.3:c.3243C>G, XM_006721025.2:c.3243C>G, XM_006721025.1:c.3243C>G, XM_005255206.4:c.3504C>G, XM_005255206.3:c.3504C>G, XM_005255206.2:c.3504C>G, XM_005255206.1:c.3504C>G, XM_011545773.3:c.3426C>G, XM_011545773.2:c.3426C>G, XM_011545773.1:c.3426C>G, XM_011545774.3:c.3426C>G, XM_011545774.2:c.3426C>G, XM_011545774.1:c.3426C>G, XM_011545775.3:c.3384C>G, XM_011545775.2:c.3384C>G, XM_011545775.1:c.3384C>G, XM_011545776.3:c.3372C>G, XM_011545776.2:c.3372C>G, XM_011545776.1:c.3372C>G, XM_005255208.3:c.2100C>G, XM_005255208.2:c.2100C>G, XM_005255208.1:c.2100C>G, XM_011545777.3:c.1425C>G, XM_011545777.2:c.1425C>G, XM_011545777.1:c.1425C>G, XM_024450216.2:c.3318C>G, XM_024450216.1:c.3318C>G, XM_017023085.2:c.3255C>G, XM_017023085.1:c.3255C>G, XM_017023087.2:c.3189C>G, XM_017023087.1:c.3189C>G, XM_047433844.1:c.2838C>G, XM_047433842.1:c.3252C>G, XM_047433843.1:c.3123C>G, XM_047433845.1:c.2199C>G, XM_047433846.1:c.3384C>G

                                  17.

                                  rs1476400822 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:27774957 (GRCh38)
                                    16:27786278 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:27774956:T:C
                                    Gene:
                                    KATNIP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.27774957T>C, NC_000016.9:g.27786278T>C, NG_046731.1:g.229811T>C, NM_015202.5:c.4322T>C, NM_015202.4:c.4322T>C, NM_015202.3:c.4322T>C, NM_015202.2:c.4322T>C, XM_005255201.4:c.4505T>C, XM_005255201.3:c.4505T>C, XM_005255201.2:c.4505T>C, XM_005255201.1:c.4505T>C, XM_005255202.4:c.4451T>C, XM_005255202.3:c.4451T>C, XM_005255202.2:c.4451T>C, XM_005255202.1:c.4451T>C, XM_005255203.4:c.4376T>C, XM_005255203.3:c.4376T>C, XM_005255203.2:c.4376T>C, XM_005255203.1:c.4376T>C, XM_006721025.4:c.4244T>C, XM_006721025.3:c.4244T>C, XM_006721025.2:c.4244T>C, XM_006721025.1:c.4244T>C, XM_011545773.3:c.4427T>C, XM_011545773.2:c.4427T>C, XM_011545773.1:c.4427T>C, XM_011545774.3:c.4427T>C, XM_011545774.2:c.4427T>C, XM_011545774.1:c.4427T>C, XM_011545775.3:c.4385T>C, XM_011545775.2:c.4385T>C, XM_011545775.1:c.4385T>C, XM_011545776.3:c.4373T>C, XM_011545776.2:c.4373T>C, XM_011545776.1:c.4373T>C, XM_005255208.3:c.3101T>C, XM_005255208.2:c.3101T>C, XM_005255208.1:c.3101T>C, XM_011545777.3:c.2426T>C, XM_011545777.2:c.2426T>C, XM_011545777.1:c.2426T>C, XM_024450216.2:c.4319T>C, XM_024450216.1:c.4319T>C, XM_017023085.2:c.4256T>C, XM_017023085.1:c.4256T>C, XM_017023087.2:c.4190T>C, XM_017023087.1:c.4190T>C, XM_047433844.1:c.3839T>C, XM_047433842.1:c.4253T>C, XM_047433843.1:c.4124T>C, XM_047433845.1:c.3200T>C, NP_056017.4:p.Phe1441Ser, XP_005255258.1:p.Phe1502Ser, XP_005255259.1:p.Phe1484Ser, XP_005255260.1:p.Phe1459Ser, XP_006721088.1:p.Phe1415Ser, XP_011544075.1:p.Phe1476Ser, XP_011544076.1:p.Phe1476Ser, XP_011544077.1:p.Phe1462Ser, XP_011544078.1:p.Phe1458Ser, XP_005255265.1:p.Phe1034Ser, XP_011544079.1:p.Phe809Ser, XP_024305984.1:p.Phe1440Ser, XP_016878574.1:p.Phe1419Ser, XP_016878576.1:p.Phe1397Ser, XP_047289800.1:p.Phe1280Ser, XP_047289798.1:p.Phe1418Ser, XP_047289799.1:p.Phe1375Ser, XP_047289801.1:p.Phe1067Ser

                                    18.

                                    rs1474622509 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      16:27769957 (GRCh38)
                                      16:27781278 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:27769956:G:C
                                      Gene:
                                      KATNIP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000047/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.27769957G>C, NC_000016.9:g.27781278G>C, NG_046731.1:g.224811G>C, NM_015202.5:c.4072G>C, NM_015202.4:c.4072G>C, NM_015202.3:c.4072G>C, NM_015202.2:c.4072G>C, XM_005255201.4:c.4255G>C, XM_005255201.3:c.4255G>C, XM_005255201.2:c.4255G>C, XM_005255201.1:c.4255G>C, XM_005255202.4:c.4201G>C, XM_005255202.3:c.4201G>C, XM_005255202.2:c.4201G>C, XM_005255202.1:c.4201G>C, XM_005255203.4:c.4126G>C, XM_005255203.3:c.4126G>C, XM_005255203.2:c.4126G>C, XM_005255203.1:c.4126G>C, XM_006721025.4:c.3994G>C, XM_006721025.3:c.3994G>C, XM_006721025.2:c.3994G>C, XM_006721025.1:c.3994G>C, XM_011545773.3:c.4177G>C, XM_011545773.2:c.4177G>C, XM_011545773.1:c.4177G>C, XM_011545774.3:c.4177G>C, XM_011545774.2:c.4177G>C, XM_011545774.1:c.4177G>C, XM_011545775.3:c.4135G>C, XM_011545775.2:c.4135G>C, XM_011545775.1:c.4135G>C, XM_011545776.3:c.4123G>C, XM_011545776.2:c.4123G>C, XM_011545776.1:c.4123G>C, XM_005255208.3:c.2851G>C, XM_005255208.2:c.2851G>C, XM_005255208.1:c.2851G>C, XM_011545777.3:c.2176G>C, XM_011545777.2:c.2176G>C, XM_011545777.1:c.2176G>C, XM_024450216.2:c.4069G>C, XM_024450216.1:c.4069G>C, XM_017023085.2:c.4006G>C, XM_017023085.1:c.4006G>C, XM_017023087.2:c.3940G>C, XM_017023087.1:c.3940G>C, XM_047433844.1:c.3589G>C, XM_047433842.1:c.4003G>C, XM_047433843.1:c.3874G>C, XM_047433845.1:c.2950G>C, NP_056017.4:p.Ala1358Pro, XP_005255258.1:p.Ala1419Pro, XP_005255259.1:p.Ala1401Pro, XP_005255260.1:p.Ala1376Pro, XP_006721088.1:p.Ala1332Pro, XP_011544075.1:p.Ala1393Pro, XP_011544076.1:p.Ala1393Pro, XP_011544077.1:p.Ala1379Pro, XP_011544078.1:p.Ala1375Pro, XP_005255265.1:p.Ala951Pro, XP_011544079.1:p.Ala726Pro, XP_024305984.1:p.Ala1357Pro, XP_016878574.1:p.Ala1336Pro, XP_016878576.1:p.Ala1314Pro, XP_047289800.1:p.Ala1197Pro, XP_047289798.1:p.Ala1335Pro, XP_047289799.1:p.Ala1292Pro, XP_047289801.1:p.Ala984Pro

                                      19.

                                      rs1474063544 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        16:27769911 (GRCh38)
                                        16:27781232 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:27769910:GGG:GG
                                        Gene:
                                        KATNIP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GG=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.27769913del, NC_000016.9:g.27781234del, NG_046731.1:g.224767del, NM_015202.5:c.4028del, NM_015202.4:c.4028del, NM_015202.3:c.4028del, NM_015202.2:c.4028del, XM_005255201.4:c.4211del, XM_005255201.3:c.4211del, XM_005255201.2:c.4211del, XM_005255201.1:c.4211del, XM_005255202.4:c.4157del, XM_005255202.3:c.4157del, XM_005255202.2:c.4157del, XM_005255202.1:c.4157del, XM_005255203.4:c.4082del, XM_005255203.3:c.4082del, XM_005255203.2:c.4082del, XM_005255203.1:c.4082del, XM_006721025.4:c.3950del, XM_006721025.3:c.3950del, XM_006721025.2:c.3950del, XM_006721025.1:c.3950del, XM_011545773.3:c.4133del, XM_011545773.2:c.4133del, XM_011545773.1:c.4133del, XM_011545774.3:c.4133del, XM_011545774.2:c.4133del, XM_011545774.1:c.4133del, XM_011545775.3:c.4091del, XM_011545775.2:c.4091del, XM_011545775.1:c.4091del, XM_011545776.3:c.4079del, XM_011545776.2:c.4079del, XM_011545776.1:c.4079del, XM_005255208.3:c.2807del, XM_005255208.2:c.2807del, XM_005255208.1:c.2807del, XM_011545777.3:c.2132del, XM_011545777.2:c.2132del, XM_011545777.1:c.2132del, XM_024450216.2:c.4025del, XM_024450216.1:c.4025del, XM_017023085.2:c.3962del, XM_017023085.1:c.3962del, XM_017023087.2:c.3896del, XM_017023087.1:c.3896del, XM_047433844.1:c.3545del, XM_047433842.1:c.3959del, XM_047433843.1:c.3830del, XM_047433845.1:c.2906del, NP_056017.4:p.Gly1343fs, XP_005255258.1:p.Gly1404fs, XP_005255259.1:p.Gly1386fs, XP_005255260.1:p.Gly1361fs, XP_006721088.1:p.Gly1317fs, XP_011544075.1:p.Gly1378fs, XP_011544076.1:p.Gly1378fs, XP_011544077.1:p.Gly1364fs, XP_011544078.1:p.Gly1360fs, XP_005255265.1:p.Gly936fs, XP_011544079.1:p.Gly711fs, XP_024305984.1:p.Gly1342fs, XP_016878574.1:p.Gly1321fs, XP_016878576.1:p.Gly1299fs, XP_047289800.1:p.Gly1182fs, XP_047289798.1:p.Gly1320fs, XP_047289799.1:p.Gly1277fs, XP_047289801.1:p.Gly969fs

                                        20.

                                        rs1473400531 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          16:27740880 (GRCh38)
                                          16:27752201 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:27740879:T:C,NC_000016.10:27740879:T:G
                                          Gene:
                                          KATNIP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          G=0.001092/2 (Korea1K)
                                          HGVS:
                                          NC_000016.10:g.27740880T>C, NC_000016.10:g.27740880T>G, NC_000016.9:g.27752201T>C, NC_000016.9:g.27752201T>G, NG_046731.1:g.195734T>C, NG_046731.1:g.195734T>G, NM_015202.5:c.2583T>C, NM_015202.5:c.2583T>G, NM_015202.4:c.2583T>C, NM_015202.4:c.2583T>G, NM_015202.3:c.2583T>C, NM_015202.3:c.2583T>G, NM_015202.2:c.2583T>C, NM_015202.2:c.2583T>G, XM_005255201.4:c.2766T>C, XM_005255201.4:c.2766T>G, XM_005255201.3:c.2766T>C, XM_005255201.3:c.2766T>G, XM_005255201.2:c.2766T>C, XM_005255201.2:c.2766T>G, XM_005255201.1:c.2766T>C, XM_005255201.1:c.2766T>G, XM_005255202.4:c.2712T>C, XM_005255202.4:c.2712T>G, XM_005255202.3:c.2712T>C, XM_005255202.3:c.2712T>G, XM_005255202.2:c.2712T>C, XM_005255202.2:c.2712T>G, XM_005255202.1:c.2712T>C, XM_005255202.1:c.2712T>G, XM_005255203.4:c.2637T>C, XM_005255203.4:c.2637T>G, XM_005255203.3:c.2637T>C, XM_005255203.3:c.2637T>G, XM_005255203.2:c.2637T>C, XM_005255203.2:c.2637T>G, XM_005255203.1:c.2637T>C, XM_005255203.1:c.2637T>G, XM_006721025.4:c.2505T>C, XM_006721025.4:c.2505T>G, XM_006721025.3:c.2505T>C, XM_006721025.3:c.2505T>G, XM_006721025.2:c.2505T>C, XM_006721025.2:c.2505T>G, XM_006721025.1:c.2505T>C, XM_006721025.1:c.2505T>G, XM_005255206.4:c.2766T>C, XM_005255206.4:c.2766T>G, XM_005255206.3:c.2766T>C, XM_005255206.3:c.2766T>G, XM_005255206.2:c.2766T>C, XM_005255206.2:c.2766T>G, XM_005255206.1:c.2766T>C, XM_005255206.1:c.2766T>G, XM_011545773.3:c.2688T>C, XM_011545773.3:c.2688T>G, XM_011545773.2:c.2688T>C, XM_011545773.2:c.2688T>G, XM_011545773.1:c.2688T>C, XM_011545773.1:c.2688T>G, XM_011545774.3:c.2688T>C, XM_011545774.3:c.2688T>G, XM_011545774.2:c.2688T>C, XM_011545774.2:c.2688T>G, XM_011545774.1:c.2688T>C, XM_011545774.1:c.2688T>G, XM_011545775.3:c.2646T>C, XM_011545775.3:c.2646T>G, XM_011545775.2:c.2646T>C, XM_011545775.2:c.2646T>G, XM_011545775.1:c.2646T>C, XM_011545775.1:c.2646T>G, XM_011545776.3:c.2634T>C, XM_011545776.3:c.2634T>G, XM_011545776.2:c.2634T>C, XM_011545776.2:c.2634T>G, XM_011545776.1:c.2634T>C, XM_011545776.1:c.2634T>G, XM_005255208.3:c.1362T>C, XM_005255208.3:c.1362T>G, XM_005255208.2:c.1362T>C, XM_005255208.2:c.1362T>G, XM_005255208.1:c.1362T>C, XM_005255208.1:c.1362T>G, XM_011545777.3:c.687T>C, XM_011545777.3:c.687T>G, XM_011545777.2:c.687T>C, XM_011545777.2:c.687T>G, XM_011545777.1:c.687T>C, XM_011545777.1:c.687T>G, XM_024450216.2:c.2580T>C, XM_024450216.2:c.2580T>G, XM_024450216.1:c.2580T>C, XM_024450216.1:c.2580T>G, XM_017023085.2:c.2517T>C, XM_017023085.2:c.2517T>G, XM_017023085.1:c.2517T>C, XM_017023085.1:c.2517T>G, XM_017023087.2:c.2451T>C, XM_017023087.2:c.2451T>G, XM_017023087.1:c.2451T>C, XM_017023087.1:c.2451T>G, XM_047433844.1:c.2100T>C, XM_047433844.1:c.2100T>G, XM_047433842.1:c.2514T>C, XM_047433842.1:c.2514T>G, XM_047433843.1:c.2385T>C, XM_047433843.1:c.2385T>G, XM_047433845.1:c.1461T>C, XM_047433845.1:c.1461T>G, XM_047433846.1:c.2646T>C, XM_047433846.1:c.2646T>G

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