U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1000

1.

rs1490814911 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:12048609 (GRCh38)
    16:12142466 (GRCh37)
    Canonical SPDI:
    NC_000016.10:12048608:A:G
    Gene:
    SNX29 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.12048609A>G, NC_000016.9:g.12142466A>G, XM_005255682.5:c.767A>G, XM_005255682.4:c.767A>G, XM_005255682.3:c.767A>G, XM_005255682.2:c.767A>G, XM_005255682.1:c.767A>G, NM_032167.5:c.737A>G, NM_032167.4:c.737A>G, NM_032167.3:c.737A>G, XM_005255683.5:c.767A>G, XM_005255683.4:c.767A>G, XM_005255683.3:c.767A>G, XM_005255683.2:c.767A>G, XM_005255683.1:c.767A>G, XM_011522738.4:c.767A>G, XM_011522738.3:c.767A>G, XM_011522738.2:c.767A>G, XM_011522738.1:c.767A>G, XM_011522741.4:c.767A>G, XM_011522741.3:c.767A>G, XM_011522741.2:c.767A>G, XM_011522741.1:c.767A>G, XM_011522744.4:c.767A>G, XM_011522744.3:c.767A>G, XM_011522744.2:c.767A>G, XM_011522744.1:c.767A>G, XM_011522743.4:c.767A>G, XM_011522743.3:c.767A>G, XM_011522743.2:c.767A>G, XM_011522743.1:c.767A>G, XM_017023873.3:c.767A>G, XM_017023873.2:c.767A>G, XM_017023873.1:c.767A>G, XR_001752024.3:n.1045A>G, XR_001752024.2:n.986A>G, XR_001752024.1:n.982A>G, XM_017023876.3:c.767A>G, XM_017023876.2:c.767A>G, XM_017023876.1:c.767A>G, XM_017023874.2:c.737A>G, XM_017023874.1:c.737A>G, XM_047434886.1:c.281A>G, XM_047434884.1:c.737A>G, XM_047434879.1:c.767A>G, XM_047434880.1:c.767A>G, XM_047434882.1:c.767A>G, XM_047434881.1:c.737A>G, XM_047434883.1:c.737A>G, XM_047434885.1:c.281A>G, NM_001376490.1:c.737A>G, XM_047434887.1:c.737A>G, XP_005255739.1:p.Asn256Ser, NP_115543.3:p.Asn246Ser, XP_005255740.1:p.Asn256Ser, XP_011521040.1:p.Asn256Ser, XP_011521043.1:p.Asn256Ser, XP_011521046.1:p.Asn256Ser, XP_011521045.1:p.Asn256Ser, XP_016879362.1:p.Asn256Ser, XP_016879365.1:p.Asn256Ser, XP_016879363.1:p.Asn246Ser, XP_047290842.1:p.Asn94Ser, XP_047290840.1:p.Asn246Ser, XP_047290835.1:p.Asn256Ser, XP_047290836.1:p.Asn256Ser, XP_047290838.1:p.Asn256Ser, XP_047290837.1:p.Asn246Ser, XP_047290839.1:p.Asn246Ser, XP_047290841.1:p.Asn94Ser, NP_001363419.1:p.Asn246Ser, XP_047290843.1:p.Asn246Ser

    2.

    rs1490516596 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>-,CCC [Show Flanks]
      Chromosome:
      16:12561033 (GRCh38)
      16:12654890 (GRCh37)
      Canonical SPDI:
      NC_000016.10:12561032:CCC:CC,NC_000016.10:12561032:CCC:CCCCC
      Gene:
      SNX29 (Varview), LOC105371085 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa
      MAF:
      CCCCC=0./0 (ALFA)
      CC=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.12561035del, NC_000016.10:g.12561034_12561035dup, NC_000016.9:g.12654892del, NC_000016.9:g.12654891_12654892dup, XM_011522738.4:c.2574del, XM_011522738.4:c.2573_2574dup, XM_011522738.3:c.2574del, XM_011522738.3:c.2573_2574dup, XM_011522738.2:c.2574del, XM_011522738.2:c.2573_2574dup, XM_011522738.1:c.2574del, XM_011522738.1:c.2573_2574dup, XR_933080.4:n.114del, XR_933080.4:n.113_114dup, XM_017023873.3:c.2463del, XM_017023873.3:c.2462_2463dup, XM_017023873.2:c.2463del, XM_017023873.2:c.2462_2463dup, XM_017023873.1:c.2463del, XM_017023873.1:c.2462_2463dup, XR_001752024.3:n.2852del, XR_001752024.3:n.2851_2852dup, XR_001752024.2:n.2793del, XR_001752024.2:n.2792_2793dup, XR_001752024.1:n.2789del, XR_001752024.1:n.2788_2789dup, XM_017023874.2:c.2433del, XM_017023874.2:c.2432_2433dup, XM_017023874.1:c.2433del, XM_017023874.1:c.2432_2433dup, XP_011521040.1:p.Ile859fs, XP_011521040.1:p.Ile859fs, XP_016879362.1:p.Ile822fs, XP_016879362.1:p.Ile822fs, XP_016879363.1:p.Ile812fs, XP_016879363.1:p.Ile812fs

      3.

      rs1487560108 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:12199674 (GRCh38)
        16:12293531 (GRCh37)
        Canonical SPDI:
        NC_000016.10:12199673:A:G
        Gene:
        SNX29 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000016.10:g.12199674A>G, NC_000016.9:g.12293531A>G, XM_005255682.5:c.1699A>G, XM_005255682.4:c.1699A>G, XM_005255682.3:c.1699A>G, XM_005255682.2:c.1699A>G, XM_005255682.1:c.1699A>G, NM_032167.5:c.1669A>G, NM_032167.4:c.1669A>G, NM_032167.3:c.1669A>G, XM_011522738.4:c.1699A>G, XM_011522738.3:c.1699A>G, XM_011522738.2:c.1699A>G, XM_011522738.1:c.1699A>G, XM_011522741.4:c.1699A>G, XM_011522741.3:c.1699A>G, XM_011522741.2:c.1699A>G, XM_011522741.1:c.1699A>G, XM_011522744.4:c.1699A>G, XM_011522744.3:c.1699A>G, XM_011522744.2:c.1699A>G, XM_011522744.1:c.1699A>G, XM_011522743.4:c.1699A>G, XM_011522743.3:c.1699A>G, XM_011522743.2:c.1699A>G, XM_011522743.1:c.1699A>G, XM_017023873.3:c.1699A>G, XM_017023873.2:c.1699A>G, XM_017023873.1:c.1699A>G, XR_001752024.3:n.1977A>G, XR_001752024.2:n.1918A>G, XR_001752024.1:n.1914A>G, XM_017023874.2:c.1669A>G, XM_017023874.1:c.1669A>G, NM_001080530.2:c.514A>G, XM_047434886.1:c.1213A>G, XM_047434888.1:c.514A>G, XM_047434884.1:c.1669A>G, XM_047434879.1:c.1699A>G, XM_047434880.1:c.1699A>G, XM_047434882.1:c.1699A>G, XM_047434881.1:c.1669A>G, XM_047434883.1:c.1669A>G, XM_047434885.1:c.1213A>G, XM_047434889.1:c.289A>G, NM_001080530.1:c.595A>G, XP_005255739.1:p.Thr567Ala, NP_115543.3:p.Thr557Ala, XP_011521040.1:p.Thr567Ala, XP_011521043.1:p.Thr567Ala, XP_011521046.1:p.Thr567Ala, XP_011521045.1:p.Thr567Ala, XP_016879362.1:p.Thr567Ala, XP_016879363.1:p.Thr557Ala, XP_047290842.1:p.Thr405Ala, XP_047290844.1:p.Thr172Ala, XP_047290840.1:p.Thr557Ala, XP_047290835.1:p.Thr567Ala, XP_047290836.1:p.Thr567Ala, XP_047290838.1:p.Thr567Ala, XP_047290837.1:p.Thr557Ala, XP_047290839.1:p.Thr557Ala, XP_047290841.1:p.Thr405Ala, XP_047290845.1:p.Thr97Ala

        4.

        rs1485852715 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          16:12129632 (GRCh38)
          16:12223489 (GRCh37)
          Canonical SPDI:
          NC_000016.10:12129631:C:G
          Gene:
          SNX29 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.12129632C>G, NC_000016.9:g.12223489C>G, XM_005255682.5:c.1499C>G, XM_005255682.4:c.1499C>G, XM_005255682.3:c.1499C>G, XM_005255682.2:c.1499C>G, XM_005255682.1:c.1499C>G, NM_032167.5:c.1469C>G, NM_032167.4:c.1469C>G, NM_032167.3:c.1469C>G, XM_005255683.5:c.1499C>G, XM_005255683.4:c.1499C>G, XM_005255683.3:c.1499C>G, XM_005255683.2:c.1499C>G, XM_005255683.1:c.1499C>G, XM_011522738.4:c.1499C>G, XM_011522738.3:c.1499C>G, XM_011522738.2:c.1499C>G, XM_011522738.1:c.1499C>G, XM_011522741.4:c.1499C>G, XM_011522741.3:c.1499C>G, XM_011522741.2:c.1499C>G, XM_011522741.1:c.1499C>G, XM_011522744.4:c.1499C>G, XM_011522744.3:c.1499C>G, XM_011522744.2:c.1499C>G, XM_011522744.1:c.1499C>G, XM_011522743.4:c.1499C>G, XM_011522743.3:c.1499C>G, XM_011522743.2:c.1499C>G, XM_011522743.1:c.1499C>G, XM_017023873.3:c.1499C>G, XM_017023873.2:c.1499C>G, XM_017023873.1:c.1499C>G, XR_001752024.3:n.1777C>G, XR_001752024.2:n.1718C>G, XR_001752024.1:n.1714C>G, XM_017023876.3:c.1499C>G, XM_017023876.2:c.1499C>G, XM_017023876.1:c.1499C>G, XM_017023874.2:c.1469C>G, XM_017023874.1:c.1469C>G, NM_001080530.2:c.314C>G, XM_047434886.1:c.1013C>G, XM_047434888.1:c.314C>G, XM_047434884.1:c.1469C>G, XM_047434879.1:c.1499C>G, XM_047434880.1:c.1499C>G, XM_047434882.1:c.1499C>G, XM_047434881.1:c.1469C>G, XM_047434883.1:c.1469C>G, XM_047434885.1:c.1013C>G, XM_047434889.1:c.89C>G, NM_001376490.1:c.1469C>G, XM_047434887.1:c.1469C>G, NM_001080530.1:c.395C>G, XP_005255739.1:p.Ser500Ter, NP_115543.3:p.Ser490Ter, XP_005255740.1:p.Ser500Ter, XP_011521040.1:p.Ser500Ter, XP_011521043.1:p.Ser500Ter, XP_011521046.1:p.Ser500Ter, XP_011521045.1:p.Ser500Ter, XP_016879362.1:p.Ser500Ter, XP_016879365.1:p.Ser500Ter, XP_016879363.1:p.Ser490Ter, XP_047290842.1:p.Ser338Ter, XP_047290844.1:p.Ser105Ter, XP_047290840.1:p.Ser490Ter, XP_047290835.1:p.Ser500Ter, XP_047290836.1:p.Ser500Ter, XP_047290838.1:p.Ser500Ter, XP_047290837.1:p.Ser490Ter, XP_047290839.1:p.Ser490Ter, XP_047290841.1:p.Ser338Ter, XP_047290845.1:p.Ser30Ter, NP_001363419.1:p.Ser490Ter, XP_047290843.1:p.Ser490Ter

          5.

          rs1483893249 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:12277934 (GRCh38)
            16:12371791 (GRCh37)
            Canonical SPDI:
            NC_000016.10:12277933:G:A
            Gene:
            SNX29 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000011/3 (TOPMED)
            A=0.000036/5 (GnomAD)
            HGVS:
            NC_000016.10:g.12277934G>A, NC_000016.9:g.12371791G>A, XM_005255682.5:c.1710G>A, XM_005255682.4:c.1710G>A, XM_005255682.3:c.1710G>A, XM_005255682.2:c.1710G>A, XM_005255682.1:c.1710G>A, NM_032167.5:c.1680G>A, NM_032167.4:c.1680G>A, NM_032167.3:c.1680G>A, XM_011522738.4:c.1710G>A, XM_011522738.3:c.1710G>A, XM_011522738.2:c.1710G>A, XM_011522738.1:c.1710G>A, XM_011522741.4:c.1710G>A, XM_011522741.3:c.1710G>A, XM_011522741.2:c.1710G>A, XM_011522741.1:c.1710G>A, XM_011522744.4:c.1710G>A, XM_011522744.3:c.1710G>A, XM_011522744.2:c.1710G>A, XM_011522744.1:c.1710G>A, XM_011522743.4:c.1710G>A, XM_011522743.3:c.1710G>A, XM_011522743.2:c.1710G>A, XM_011522743.1:c.1710G>A, XM_017023873.3:c.1710G>A, XM_017023873.2:c.1710G>A, XM_017023873.1:c.1710G>A, XR_001752024.3:n.1988G>A, XR_001752024.2:n.1929G>A, XR_001752024.1:n.1925G>A, XM_017023876.3:c.1627G>A, XM_017023876.2:c.1627G>A, XM_017023876.1:c.1627G>A, XM_017023874.2:c.1680G>A, XM_017023874.1:c.1680G>A, NM_001080530.2:c.525G>A, XM_047434886.1:c.1224G>A, XM_047434888.1:c.525G>A, XM_047434884.1:c.1680G>A, XM_047434879.1:c.1710G>A, XM_047434880.1:c.1710G>A, XM_047434882.1:c.1710G>A, XM_047434881.1:c.1680G>A, XM_047434883.1:c.1680G>A, XM_047434885.1:c.1224G>A, XM_047434889.1:c.300G>A, XM_047434887.1:c.1597G>A, NM_001080530.1:c.609G>A, XP_016879365.1:p.Ala543Thr, XP_047290843.1:p.Ala533Thr

            6.

            rs1483130904 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:12356248 (GRCh38)
              16:12450105 (GRCh37)
              Canonical SPDI:
              NC_000016.10:12356247:T:C
              Gene:
              SNX29 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.12356248T>C, NC_000016.9:g.12450105T>C, XM_005255682.5:c.1898T>C, XM_005255682.4:c.1898T>C, XM_005255682.3:c.1898T>C, XM_005255682.2:c.1898T>C, XM_005255682.1:c.1898T>C, NM_032167.5:c.1868T>C, NM_032167.4:c.1868T>C, NM_032167.3:c.1868T>C, XM_011522738.4:c.1898T>C, XM_011522738.3:c.1898T>C, XM_011522738.2:c.1898T>C, XM_011522738.1:c.1898T>C, XM_011522741.4:c.1898T>C, XM_011522741.3:c.1898T>C, XM_011522741.2:c.1898T>C, XM_011522741.1:c.1898T>C, XM_011522744.4:c.1898T>C, XM_011522744.3:c.1898T>C, XM_011522744.2:c.1898T>C, XM_011522744.1:c.1898T>C, XM_011522743.4:c.1898T>C, XM_011522743.3:c.1898T>C, XM_011522743.2:c.1898T>C, XM_011522743.1:c.1898T>C, XM_017023873.3:c.1898T>C, XM_017023873.2:c.1898T>C, XM_017023873.1:c.1898T>C, XR_001752024.3:n.2176T>C, XR_001752024.2:n.2117T>C, XR_001752024.1:n.2113T>C, XM_017023874.2:c.1868T>C, XM_017023874.1:c.1868T>C, NM_001080530.2:c.713T>C, XM_047434886.1:c.1412T>C, XM_047434888.1:c.713T>C, XM_047434884.1:c.1868T>C, XM_047434879.1:c.1898T>C, XM_047434880.1:c.1898T>C, XM_047434882.1:c.1898T>C, XM_047434881.1:c.1868T>C, XM_047434883.1:c.1868T>C, XM_047434885.1:c.1412T>C, XM_047434889.1:c.488T>C, NM_001080530.1:c.797T>C, XP_005255739.1:p.Met633Thr, NP_115543.3:p.Met623Thr, XP_011521040.1:p.Met633Thr, XP_011521043.1:p.Met633Thr, XP_011521046.1:p.Met633Thr, XP_011521045.1:p.Met633Thr, XP_016879362.1:p.Met633Thr, XP_016879363.1:p.Met623Thr, XP_047290842.1:p.Met471Thr, XP_047290844.1:p.Met238Thr, XP_047290840.1:p.Met623Thr, XP_047290835.1:p.Met633Thr, XP_047290836.1:p.Met633Thr, XP_047290838.1:p.Met633Thr, XP_047290837.1:p.Met623Thr, XP_047290839.1:p.Met623Thr, XP_047290841.1:p.Met471Thr, XP_047290845.1:p.Met163Thr

              7.

              rs1483010246 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:12398476 (GRCh38)
                16:12492333 (GRCh37)
                Canonical SPDI:
                NC_000016.10:12398475:G:A
                Gene:
                SNX29 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.12398476G>A, NC_000016.9:g.12492333G>A, XM_005255682.5:c.1960G>A, XM_005255682.4:c.1960G>A, XM_005255682.3:c.1960G>A, XM_005255682.2:c.1960G>A, XM_005255682.1:c.1960G>A, NM_032167.5:c.1930G>A, NM_032167.4:c.1930G>A, NM_032167.3:c.1930G>A, XM_011522738.4:c.1960G>A, XM_011522738.3:c.1960G>A, XM_011522738.2:c.1960G>A, XM_011522738.1:c.1960G>A, XM_011522741.4:c.1960G>A, XM_011522741.3:c.1960G>A, XM_011522741.2:c.1960G>A, XM_011522741.1:c.1960G>A, XM_011522744.4:c.1960G>A, XM_011522744.3:c.1960G>A, XM_011522744.2:c.1960G>A, XM_011522744.1:c.1960G>A, XM_011522743.4:c.1960G>A, XM_011522743.3:c.1960G>A, XM_011522743.2:c.1960G>A, XM_011522743.1:c.1960G>A, XM_017023873.3:c.1960G>A, XM_017023873.2:c.1960G>A, XM_017023873.1:c.1960G>A, XR_001752024.3:n.2238G>A, XR_001752024.2:n.2179G>A, XR_001752024.1:n.2175G>A, XM_017023874.2:c.1930G>A, XM_017023874.1:c.1930G>A, NM_001080530.2:c.775G>A, XM_047434886.1:c.1474G>A, XM_047434888.1:c.775G>A, XM_047434884.1:c.1930G>A, XM_047434879.1:c.1960G>A, XM_047434880.1:c.1960G>A, XM_047434882.1:c.1960G>A, XM_047434881.1:c.1930G>A, XM_047434883.1:c.1930G>A, XM_047434885.1:c.1474G>A, XM_047434889.1:c.550G>A, NM_001080530.1:c.859G>A, XP_005255739.1:p.Asp654Asn, NP_115543.3:p.Asp644Asn, XP_011521040.1:p.Asp654Asn, XP_011521043.1:p.Asp654Asn, XP_011521046.1:p.Asp654Asn, XP_011521045.1:p.Asp654Asn, XP_016879362.1:p.Asp654Asn, XP_016879363.1:p.Asp644Asn, XP_047290842.1:p.Asp492Asn, XP_047290844.1:p.Asp259Asn, XP_047290840.1:p.Asp644Asn, XP_047290835.1:p.Asp654Asn, XP_047290836.1:p.Asp654Asn, XP_047290838.1:p.Asp654Asn, XP_047290837.1:p.Asp644Asn, XP_047290839.1:p.Asp644Asn, XP_047290841.1:p.Asp492Asn, XP_047290845.1:p.Asp184Asn

                8.

                rs1481926934 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  16:12398468 (GRCh38)
                  16:12492325 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:12398467:C:
                  Gene:
                  SNX29 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.12398468del, NC_000016.9:g.12492325del, XM_005255682.5:c.1952del, XM_005255682.4:c.1952del, XM_005255682.3:c.1952del, XM_005255682.2:c.1952del, XM_005255682.1:c.1952del, NM_032167.5:c.1922del, NM_032167.4:c.1922del, NM_032167.3:c.1922del, XM_011522738.4:c.1952del, XM_011522738.3:c.1952del, XM_011522738.2:c.1952del, XM_011522738.1:c.1952del, XM_011522741.4:c.1952del, XM_011522741.3:c.1952del, XM_011522741.2:c.1952del, XM_011522741.1:c.1952del, XM_011522744.4:c.1952del, XM_011522744.3:c.1952del, XM_011522744.2:c.1952del, XM_011522744.1:c.1952del, XM_011522743.4:c.1952del, XM_011522743.3:c.1952del, XM_011522743.2:c.1952del, XM_011522743.1:c.1952del, XM_017023873.3:c.1952del, XM_017023873.2:c.1952del, XM_017023873.1:c.1952del, XR_001752024.3:n.2230del, XR_001752024.2:n.2171del, XR_001752024.1:n.2167del, XM_017023874.2:c.1922del, XM_017023874.1:c.1922del, NM_001080530.2:c.767del, XM_047434886.1:c.1466del, XM_047434888.1:c.767del, XM_047434884.1:c.1922del, XM_047434879.1:c.1952del, XM_047434880.1:c.1952del, XM_047434882.1:c.1952del, XM_047434881.1:c.1922del, XM_047434883.1:c.1922del, XM_047434885.1:c.1466del, XM_047434889.1:c.542del, NM_001080530.1:c.851del, XP_005255739.1:p.Thr651fs, NP_115543.3:p.Thr641fs, XP_011521040.1:p.Thr651fs, XP_011521043.1:p.Thr651fs, XP_011521046.1:p.Thr651fs, XP_011521045.1:p.Thr651fs, XP_016879362.1:p.Thr651fs, XP_016879363.1:p.Thr641fs, XP_047290842.1:p.Thr489fs, XP_047290844.1:p.Thr256fs, XP_047290840.1:p.Thr641fs, XP_047290835.1:p.Thr651fs, XP_047290836.1:p.Thr651fs, XP_047290838.1:p.Thr651fs, XP_047290837.1:p.Thr641fs, XP_047290839.1:p.Thr641fs, XP_047290841.1:p.Thr489fs, XP_047290845.1:p.Thr181fs

                  9.

                  rs1481036099 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    16:12046440 (GRCh38)
                    16:12140297 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:12046439:C:G,NC_000016.10:12046439:C:T
                    Gene:
                    SNX29 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.12046440C>G, NC_000016.10:g.12046440C>T, NC_000016.9:g.12140297C>G, NC_000016.9:g.12140297C>T, XM_005255682.5:c.515C>G, XM_005255682.5:c.515C>T, XM_005255682.4:c.515C>G, XM_005255682.4:c.515C>T, XM_005255682.3:c.515C>G, XM_005255682.3:c.515C>T, XM_005255682.2:c.515C>G, XM_005255682.2:c.515C>T, XM_005255682.1:c.515C>G, XM_005255682.1:c.515C>T, NM_032167.5:c.485C>G, NM_032167.5:c.485C>T, NM_032167.4:c.485C>G, NM_032167.4:c.485C>T, NM_032167.3:c.485C>G, NM_032167.3:c.485C>T, XM_005255683.5:c.515C>G, XM_005255683.5:c.515C>T, XM_005255683.4:c.515C>G, XM_005255683.4:c.515C>T, XM_005255683.3:c.515C>G, XM_005255683.3:c.515C>T, XM_005255683.2:c.515C>G, XM_005255683.2:c.515C>T, XM_005255683.1:c.515C>G, XM_005255683.1:c.515C>T, XM_011522738.4:c.515C>G, XM_011522738.4:c.515C>T, XM_011522738.3:c.515C>G, XM_011522738.3:c.515C>T, XM_011522738.2:c.515C>G, XM_011522738.2:c.515C>T, XM_011522738.1:c.515C>G, XM_011522738.1:c.515C>T, XM_011522741.4:c.515C>G, XM_011522741.4:c.515C>T, XM_011522741.3:c.515C>G, XM_011522741.3:c.515C>T, XM_011522741.2:c.515C>G, XM_011522741.2:c.515C>T, XM_011522741.1:c.515C>G, XM_011522741.1:c.515C>T, XM_011522744.4:c.515C>G, XM_011522744.4:c.515C>T, XM_011522744.3:c.515C>G, XM_011522744.3:c.515C>T, XM_011522744.2:c.515C>G, XM_011522744.2:c.515C>T, XM_011522744.1:c.515C>G, XM_011522744.1:c.515C>T, XM_011522743.4:c.515C>G, XM_011522743.4:c.515C>T, XM_011522743.3:c.515C>G, XM_011522743.3:c.515C>T, XM_011522743.2:c.515C>G, XM_011522743.2:c.515C>T, XM_011522743.1:c.515C>G, XM_011522743.1:c.515C>T, XM_017023873.3:c.515C>G, XM_017023873.3:c.515C>T, XM_017023873.2:c.515C>G, XM_017023873.2:c.515C>T, XM_017023873.1:c.515C>G, XM_017023873.1:c.515C>T, XR_001752024.3:n.793C>G, XR_001752024.3:n.793C>T, XR_001752024.2:n.734C>G, XR_001752024.2:n.734C>T, XR_001752024.1:n.730C>G, XR_001752024.1:n.730C>T, XM_017023876.3:c.515C>G, XM_017023876.3:c.515C>T, XM_017023876.2:c.515C>G, XM_017023876.2:c.515C>T, XM_017023876.1:c.515C>G, XM_017023876.1:c.515C>T, XM_017023874.2:c.485C>G, XM_017023874.2:c.485C>T, XM_017023874.1:c.485C>G, XM_017023874.1:c.485C>T, XM_047434886.1:c.29C>G, XM_047434886.1:c.29C>T, XM_047434884.1:c.485C>G, XM_047434884.1:c.485C>T, XM_047434879.1:c.515C>G, XM_047434879.1:c.515C>T, XM_047434880.1:c.515C>G, XM_047434880.1:c.515C>T, XM_047434882.1:c.515C>G, XM_047434882.1:c.515C>T, XM_047434881.1:c.485C>G, XM_047434881.1:c.485C>T, XM_047434883.1:c.485C>G, XM_047434883.1:c.485C>T, XM_047434885.1:c.29C>G, XM_047434885.1:c.29C>T, NM_001376490.1:c.485C>G, NM_001376490.1:c.485C>T, XM_047434887.1:c.485C>G, XM_047434887.1:c.485C>T, XP_005255739.1:p.Pro172Arg, XP_005255739.1:p.Pro172Leu, NP_115543.3:p.Pro162Arg, NP_115543.3:p.Pro162Leu, XP_005255740.1:p.Pro172Arg, XP_005255740.1:p.Pro172Leu, XP_011521040.1:p.Pro172Arg, XP_011521040.1:p.Pro172Leu, XP_011521043.1:p.Pro172Arg, XP_011521043.1:p.Pro172Leu, XP_011521046.1:p.Pro172Arg, XP_011521046.1:p.Pro172Leu, XP_011521045.1:p.Pro172Arg, XP_011521045.1:p.Pro172Leu, XP_016879362.1:p.Pro172Arg, XP_016879362.1:p.Pro172Leu, XP_016879365.1:p.Pro172Arg, XP_016879365.1:p.Pro172Leu, XP_016879363.1:p.Pro162Arg, XP_016879363.1:p.Pro162Leu, XP_047290842.1:p.Pro10Arg, XP_047290842.1:p.Pro10Leu, XP_047290840.1:p.Pro162Arg, XP_047290840.1:p.Pro162Leu, XP_047290835.1:p.Pro172Arg, XP_047290835.1:p.Pro172Leu, XP_047290836.1:p.Pro172Arg, XP_047290836.1:p.Pro172Leu, XP_047290838.1:p.Pro172Arg, XP_047290838.1:p.Pro172Leu, XP_047290837.1:p.Pro162Arg, XP_047290837.1:p.Pro162Leu, XP_047290839.1:p.Pro162Arg, XP_047290839.1:p.Pro162Leu, XP_047290841.1:p.Pro10Arg, XP_047290841.1:p.Pro10Leu, NP_001363419.1:p.Pro162Arg, NP_001363419.1:p.Pro162Leu, XP_047290843.1:p.Pro162Arg, XP_047290843.1:p.Pro162Leu

                    10.

                    rs1480888502 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:12043066 (GRCh38)
                      16:12136923 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:12043065:C:T
                      Gene:
                      SNX29 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      HGVS:
                      NC_000016.10:g.12043066C>T, NC_000016.9:g.12136923C>T, XM_005255682.5:c.447C>T, XM_005255682.4:c.447C>T, XM_005255682.3:c.447C>T, XM_005255682.2:c.447C>T, XM_005255682.1:c.447C>T, NM_032167.5:c.417C>T, NM_032167.4:c.417C>T, NM_032167.3:c.417C>T, XM_005255683.5:c.447C>T, XM_005255683.4:c.447C>T, XM_005255683.3:c.447C>T, XM_005255683.2:c.447C>T, XM_005255683.1:c.447C>T, XM_011522738.4:c.447C>T, XM_011522738.3:c.447C>T, XM_011522738.2:c.447C>T, XM_011522738.1:c.447C>T, XM_011522741.4:c.447C>T, XM_011522741.3:c.447C>T, XM_011522741.2:c.447C>T, XM_011522741.1:c.447C>T, XM_011522744.4:c.447C>T, XM_011522744.3:c.447C>T, XM_011522744.2:c.447C>T, XM_011522744.1:c.447C>T, XM_011522743.4:c.447C>T, XM_011522743.3:c.447C>T, XM_011522743.2:c.447C>T, XM_011522743.1:c.447C>T, XM_017023873.3:c.447C>T, XM_017023873.2:c.447C>T, XM_017023873.1:c.447C>T, XR_001752024.3:n.725C>T, XR_001752024.2:n.666C>T, XR_001752024.1:n.662C>T, XM_017023876.3:c.447C>T, XM_017023876.2:c.447C>T, XM_017023876.1:c.447C>T, XM_017023874.2:c.417C>T, XM_017023874.1:c.417C>T, XM_047434884.1:c.417C>T, XM_047434879.1:c.447C>T, XM_047434880.1:c.447C>T, XM_047434882.1:c.447C>T, XM_047434881.1:c.417C>T, XM_047434883.1:c.417C>T, NM_001376490.1:c.417C>T, XM_047434887.1:c.417C>T

                      11.

                      rs1479433205 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:12052195 (GRCh38)
                        16:12146052 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:12052194:A:G
                        Gene:
                        SNX29 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.12052195A>G, NC_000016.9:g.12146052A>G, XM_005255682.5:c.1127A>G, XM_005255682.4:c.1127A>G, XM_005255682.3:c.1127A>G, XM_005255682.2:c.1127A>G, XM_005255682.1:c.1127A>G, NM_032167.5:c.1097A>G, NM_032167.4:c.1097A>G, NM_032167.3:c.1097A>G, XM_005255683.5:c.1127A>G, XM_005255683.4:c.1127A>G, XM_005255683.3:c.1127A>G, XM_005255683.2:c.1127A>G, XM_005255683.1:c.1127A>G, XM_011522738.4:c.1127A>G, XM_011522738.3:c.1127A>G, XM_011522738.2:c.1127A>G, XM_011522738.1:c.1127A>G, XM_011522741.4:c.1127A>G, XM_011522741.3:c.1127A>G, XM_011522741.2:c.1127A>G, XM_011522741.1:c.1127A>G, XM_011522744.4:c.1127A>G, XM_011522744.3:c.1127A>G, XM_011522744.2:c.1127A>G, XM_011522744.1:c.1127A>G, XM_011522743.4:c.1127A>G, XM_011522743.3:c.1127A>G, XM_011522743.2:c.1127A>G, XM_011522743.1:c.1127A>G, XM_017023873.3:c.1127A>G, XM_017023873.2:c.1127A>G, XM_017023873.1:c.1127A>G, XR_001752024.3:n.1405A>G, XR_001752024.2:n.1346A>G, XR_001752024.1:n.1342A>G, XM_017023876.3:c.1127A>G, XM_017023876.2:c.1127A>G, XM_017023876.1:c.1127A>G, XM_017023874.2:c.1097A>G, XM_017023874.1:c.1097A>G, XM_047434886.1:c.641A>G, XM_047434888.1:c.61A>G, XM_047434884.1:c.1097A>G, XM_047434880.1:c.1127A>G, XM_047434882.1:c.1127A>G, XM_047434881.1:c.1097A>G, XM_047434883.1:c.1097A>G, XM_047434885.1:c.641A>G, NM_001376490.1:c.1097A>G, XM_047434887.1:c.1097A>G, XM_047434879.1:c.1127A>G, XP_005255739.1:p.His376Arg, NP_115543.3:p.His366Arg, XP_005255740.1:p.His376Arg, XP_011521040.1:p.His376Arg, XP_011521043.1:p.His376Arg, XP_011521046.1:p.His376Arg, XP_011521045.1:p.His376Arg, XP_016879362.1:p.His376Arg, XP_016879365.1:p.His376Arg, XP_016879363.1:p.His366Arg, XP_047290842.1:p.His214Arg, XP_047290844.1:p.Thr21Ala, XP_047290840.1:p.His366Arg, XP_047290836.1:p.His376Arg, XP_047290838.1:p.His376Arg, XP_047290837.1:p.His366Arg, XP_047290839.1:p.His366Arg, XP_047290841.1:p.His214Arg, NP_001363419.1:p.His366Arg, XP_047290843.1:p.His366Arg, XP_047290835.1:p.His376Arg

                        12.

                        rs1479214669 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          16:12403496 (GRCh38)
                          16:12497353 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:12403495:G:C
                          Gene:
                          SNX29 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000016.10:g.12403496G>C, NC_000016.9:g.12497353G>C, XM_005255682.5:c.2034G>C, XM_005255682.4:c.2034G>C, XM_005255682.3:c.2034G>C, XM_005255682.2:c.2034G>C, XM_005255682.1:c.2034G>C, NM_032167.5:c.2004G>C, NM_032167.4:c.2004G>C, NM_032167.3:c.2004G>C, XM_011522738.4:c.2034G>C, XM_011522738.3:c.2034G>C, XM_011522738.2:c.2034G>C, XM_011522738.1:c.2034G>C, XM_011522741.4:c.2034G>C, XM_011522741.3:c.2034G>C, XM_011522741.2:c.2034G>C, XM_011522741.1:c.2034G>C, XM_011522744.4:c.2034G>C, XM_011522744.3:c.2034G>C, XM_011522744.2:c.2034G>C, XM_011522744.1:c.2034G>C, XM_011522743.4:c.2034G>C, XM_011522743.3:c.2034G>C, XM_011522743.2:c.2034G>C, XM_011522743.1:c.2034G>C, XM_017023873.3:c.2034G>C, XM_017023873.2:c.2034G>C, XM_017023873.1:c.2034G>C, XR_001752024.3:n.2312G>C, XR_001752024.2:n.2253G>C, XR_001752024.1:n.2249G>C, XM_017023874.2:c.2004G>C, XM_017023874.1:c.2004G>C, NM_001080530.2:c.849G>C, XM_047434886.1:c.1548G>C, XM_047434888.1:c.849G>C, XM_047434884.1:c.2004G>C, XM_047434879.1:c.2034G>C, XM_047434880.1:c.2034G>C, XM_047434882.1:c.2034G>C, XM_047434881.1:c.2004G>C, XM_047434883.1:c.2004G>C, XM_047434885.1:c.1548G>C, XM_047434889.1:c.624G>C, NM_001080530.1:c.933G>C

                          13.

                          rs1477909142 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:11983692 (GRCh38)
                            16:12077549 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:11983691:C:T
                            Gene:
                            SNX29 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.11983692C>T, NC_000016.9:g.12077549C>T, XM_005255682.5:c.19C>T, XM_005255682.4:c.19C>T, XM_005255682.3:c.19C>T, XM_005255682.2:c.19C>T, XM_005255682.1:c.19C>T, XM_005255683.5:c.19C>T, XM_005255683.4:c.19C>T, XM_005255683.3:c.19C>T, XM_005255683.2:c.19C>T, XM_005255683.1:c.19C>T, XM_011522738.4:c.19C>T, XM_011522738.3:c.19C>T, XM_011522738.2:c.19C>T, XM_011522738.1:c.19C>T, XM_011522741.4:c.19C>T, XM_011522741.3:c.19C>T, XM_011522741.2:c.19C>T, XM_011522741.1:c.19C>T, XM_011522744.4:c.19C>T, XM_011522744.3:c.19C>T, XM_011522744.2:c.19C>T, XM_011522744.1:c.19C>T, XM_011522743.4:c.19C>T, XM_011522743.3:c.19C>T, XM_011522743.2:c.19C>T, XM_011522743.1:c.19C>T, XM_017023873.3:c.19C>T, XM_017023873.2:c.19C>T, XM_017023873.1:c.19C>T, XR_001752024.3:n.297C>T, XR_001752024.2:n.238C>T, XR_001752024.1:n.234C>T, XM_017023876.3:c.19C>T, XM_017023876.2:c.19C>T, XM_017023876.1:c.19C>T, XM_047434879.1:c.19C>T, XM_047434880.1:c.19C>T, XM_047434882.1:c.19C>T, XP_005255739.1:p.Pro7Ser, XP_005255740.1:p.Pro7Ser, XP_011521040.1:p.Pro7Ser, XP_011521043.1:p.Pro7Ser, XP_011521046.1:p.Pro7Ser, XP_011521045.1:p.Pro7Ser, XP_016879362.1:p.Pro7Ser, XP_016879365.1:p.Pro7Ser, XP_047290835.1:p.Pro7Ser, XP_047290836.1:p.Pro7Ser, XP_047290838.1:p.Pro7Ser

                            14.

                            rs1477225610 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:12403449 (GRCh38)
                              16:12497306 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:12403448:T:C
                              Gene:
                              SNX29 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000016.10:g.12403449T>C, NC_000016.9:g.12497306T>C, XM_005255682.5:c.1987T>C, XM_005255682.4:c.1987T>C, XM_005255682.3:c.1987T>C, XM_005255682.2:c.1987T>C, XM_005255682.1:c.1987T>C, NM_032167.5:c.1957T>C, NM_032167.4:c.1957T>C, NM_032167.3:c.1957T>C, XM_011522738.4:c.1987T>C, XM_011522738.3:c.1987T>C, XM_011522738.2:c.1987T>C, XM_011522738.1:c.1987T>C, XM_011522741.4:c.1987T>C, XM_011522741.3:c.1987T>C, XM_011522741.2:c.1987T>C, XM_011522741.1:c.1987T>C, XM_011522744.4:c.1987T>C, XM_011522744.3:c.1987T>C, XM_011522744.2:c.1987T>C, XM_011522744.1:c.1987T>C, XM_011522743.4:c.1987T>C, XM_011522743.3:c.1987T>C, XM_011522743.2:c.1987T>C, XM_011522743.1:c.1987T>C, XM_017023873.3:c.1987T>C, XM_017023873.2:c.1987T>C, XM_017023873.1:c.1987T>C, XR_001752024.3:n.2265T>C, XR_001752024.2:n.2206T>C, XR_001752024.1:n.2202T>C, XM_017023874.2:c.1957T>C, XM_017023874.1:c.1957T>C, NM_001080530.2:c.802T>C, XM_047434886.1:c.1501T>C, XM_047434888.1:c.802T>C, XM_047434884.1:c.1957T>C, XM_047434879.1:c.1987T>C, XM_047434880.1:c.1987T>C, XM_047434882.1:c.1987T>C, XM_047434881.1:c.1957T>C, XM_047434883.1:c.1957T>C, XM_047434885.1:c.1501T>C, XM_047434889.1:c.577T>C, NM_001080530.1:c.886T>C, XP_005255739.1:p.Ser663Pro, NP_115543.3:p.Ser653Pro, XP_011521040.1:p.Ser663Pro, XP_011521043.1:p.Ser663Pro, XP_011521046.1:p.Ser663Pro, XP_011521045.1:p.Ser663Pro, XP_016879362.1:p.Ser663Pro, XP_016879363.1:p.Ser653Pro, XP_047290842.1:p.Ser501Pro, XP_047290844.1:p.Ser268Pro, XP_047290840.1:p.Ser653Pro, XP_047290835.1:p.Ser663Pro, XP_047290836.1:p.Ser663Pro, XP_047290838.1:p.Ser663Pro, XP_047290837.1:p.Ser653Pro, XP_047290839.1:p.Ser653Pro, XP_047290841.1:p.Ser501Pro, XP_047290845.1:p.Ser193Pro

                              15.

                              rs1477009038 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:12078884 (GRCh38)
                                16:12172741 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:12078883:T:C
                                Gene:
                                SNX29 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000016.10:g.12078884T>C, NC_000016.9:g.12172741T>C, XM_005255682.5:c.1401T>C, XM_005255682.4:c.1401T>C, XM_005255682.3:c.1401T>C, XM_005255682.2:c.1401T>C, XM_005255682.1:c.1401T>C, NM_032167.5:c.1371T>C, NM_032167.4:c.1371T>C, NM_032167.3:c.1371T>C, XM_005255683.5:c.1401T>C, XM_005255683.4:c.1401T>C, XM_005255683.3:c.1401T>C, XM_005255683.2:c.1401T>C, XM_005255683.1:c.1401T>C, XM_011522738.4:c.1401T>C, XM_011522738.3:c.1401T>C, XM_011522738.2:c.1401T>C, XM_011522738.1:c.1401T>C, XM_011522741.4:c.1401T>C, XM_011522741.3:c.1401T>C, XM_011522741.2:c.1401T>C, XM_011522741.1:c.1401T>C, XM_011522744.4:c.1401T>C, XM_011522744.3:c.1401T>C, XM_011522744.2:c.1401T>C, XM_011522744.1:c.1401T>C, XM_011522743.4:c.1401T>C, XM_011522743.3:c.1401T>C, XM_011522743.2:c.1401T>C, XM_011522743.1:c.1401T>C, XM_017023873.3:c.1401T>C, XM_017023873.2:c.1401T>C, XM_017023873.1:c.1401T>C, XR_001752024.3:n.1679T>C, XR_001752024.2:n.1620T>C, XR_001752024.1:n.1616T>C, XM_017023876.3:c.1401T>C, XM_017023876.2:c.1401T>C, XM_017023876.1:c.1401T>C, XM_017023874.2:c.1371T>C, XM_017023874.1:c.1371T>C, NM_001080530.2:c.216T>C, XM_047434886.1:c.915T>C, XM_047434888.1:c.216T>C, XM_047434884.1:c.1371T>C, XM_047434879.1:c.1401T>C, XM_047434880.1:c.1401T>C, XM_047434882.1:c.1401T>C, XM_047434881.1:c.1371T>C, XM_047434883.1:c.1371T>C, XM_047434885.1:c.915T>C, NM_001376490.1:c.1371T>C, XM_047434887.1:c.1371T>C, NM_001080530.1:c.297T>C

                                16.

                                rs1476292105 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  16:12078901 (GRCh38)
                                  16:12172758 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:12078900:A:C
                                  Gene:
                                  SNX29 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.12078901A>C, NC_000016.9:g.12172758A>C, XM_005255682.5:c.1418A>C, XM_005255682.4:c.1418A>C, XM_005255682.3:c.1418A>C, XM_005255682.2:c.1418A>C, XM_005255682.1:c.1418A>C, NM_032167.5:c.1388A>C, NM_032167.4:c.1388A>C, NM_032167.3:c.1388A>C, XM_005255683.5:c.1418A>C, XM_005255683.4:c.1418A>C, XM_005255683.3:c.1418A>C, XM_005255683.2:c.1418A>C, XM_005255683.1:c.1418A>C, XM_011522738.4:c.1418A>C, XM_011522738.3:c.1418A>C, XM_011522738.2:c.1418A>C, XM_011522738.1:c.1418A>C, XM_011522741.4:c.1418A>C, XM_011522741.3:c.1418A>C, XM_011522741.2:c.1418A>C, XM_011522741.1:c.1418A>C, XM_011522744.4:c.1418A>C, XM_011522744.3:c.1418A>C, XM_011522744.2:c.1418A>C, XM_011522744.1:c.1418A>C, XM_011522743.4:c.1418A>C, XM_011522743.3:c.1418A>C, XM_011522743.2:c.1418A>C, XM_011522743.1:c.1418A>C, XM_017023873.3:c.1418A>C, XM_017023873.2:c.1418A>C, XM_017023873.1:c.1418A>C, XR_001752024.3:n.1696A>C, XR_001752024.2:n.1637A>C, XR_001752024.1:n.1633A>C, XM_017023876.3:c.1418A>C, XM_017023876.2:c.1418A>C, XM_017023876.1:c.1418A>C, XM_017023874.2:c.1388A>C, XM_017023874.1:c.1388A>C, NM_001080530.2:c.233A>C, XM_047434886.1:c.932A>C, XM_047434888.1:c.233A>C, XM_047434884.1:c.1388A>C, XM_047434879.1:c.1418A>C, XM_047434880.1:c.1418A>C, XM_047434882.1:c.1418A>C, XM_047434881.1:c.1388A>C, XM_047434883.1:c.1388A>C, XM_047434885.1:c.932A>C, NM_001376490.1:c.1388A>C, XM_047434887.1:c.1388A>C, NM_001080530.1:c.314A>C, XP_005255739.1:p.Glu473Ala, NP_115543.3:p.Glu463Ala, XP_005255740.1:p.Glu473Ala, XP_011521040.1:p.Glu473Ala, XP_011521043.1:p.Glu473Ala, XP_011521046.1:p.Glu473Ala, XP_011521045.1:p.Glu473Ala, XP_016879362.1:p.Glu473Ala, XP_016879365.1:p.Glu473Ala, XP_016879363.1:p.Glu463Ala, XP_047290842.1:p.Glu311Ala, XP_047290844.1:p.Glu78Ala, XP_047290840.1:p.Glu463Ala, XP_047290835.1:p.Glu473Ala, XP_047290836.1:p.Glu473Ala, XP_047290838.1:p.Glu473Ala, XP_047290837.1:p.Glu463Ala, XP_047290839.1:p.Glu463Ala, XP_047290841.1:p.Glu311Ala, NP_001363419.1:p.Glu463Ala, XP_047290843.1:p.Glu463Ala

                                  17.

                                  rs1476089245 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:12403476 (GRCh38)
                                    16:12497333 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:12403475:A:G
                                    Gene:
                                    SNX29 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_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_000016.10:g.12403476A>G, NC_000016.9:g.12497333A>G, XM_005255682.5:c.2014A>G, XM_005255682.4:c.2014A>G, XM_005255682.3:c.2014A>G, XM_005255682.2:c.2014A>G, XM_005255682.1:c.2014A>G, NM_032167.5:c.1984A>G, NM_032167.4:c.1984A>G, NM_032167.3:c.1984A>G, XM_011522738.4:c.2014A>G, XM_011522738.3:c.2014A>G, XM_011522738.2:c.2014A>G, XM_011522738.1:c.2014A>G, XM_011522741.4:c.2014A>G, XM_011522741.3:c.2014A>G, XM_011522741.2:c.2014A>G, XM_011522741.1:c.2014A>G, XM_011522744.4:c.2014A>G, XM_011522744.3:c.2014A>G, XM_011522744.2:c.2014A>G, XM_011522744.1:c.2014A>G, XM_011522743.4:c.2014A>G, XM_011522743.3:c.2014A>G, XM_011522743.2:c.2014A>G, XM_011522743.1:c.2014A>G, XM_017023873.3:c.2014A>G, XM_017023873.2:c.2014A>G, XM_017023873.1:c.2014A>G, XR_001752024.3:n.2292A>G, XR_001752024.2:n.2233A>G, XR_001752024.1:n.2229A>G, XM_017023874.2:c.1984A>G, XM_017023874.1:c.1984A>G, NM_001080530.2:c.829A>G, XM_047434886.1:c.1528A>G, XM_047434888.1:c.829A>G, XM_047434884.1:c.1984A>G, XM_047434879.1:c.2014A>G, XM_047434880.1:c.2014A>G, XM_047434882.1:c.2014A>G, XM_047434881.1:c.1984A>G, XM_047434883.1:c.1984A>G, XM_047434885.1:c.1528A>G, XM_047434889.1:c.604A>G, NM_001080530.1:c.913A>G, XP_005255739.1:p.Ile672Val, NP_115543.3:p.Ile662Val, XP_011521040.1:p.Ile672Val, XP_011521043.1:p.Ile672Val, XP_011521046.1:p.Ile672Val, XP_011521045.1:p.Ile672Val, XP_016879362.1:p.Ile672Val, XP_016879363.1:p.Ile662Val, XP_047290842.1:p.Ile510Val, XP_047290844.1:p.Ile277Val, XP_047290840.1:p.Ile662Val, XP_047290835.1:p.Ile672Val, XP_047290836.1:p.Ile672Val, XP_047290838.1:p.Ile672Val, XP_047290837.1:p.Ile662Val, XP_047290839.1:p.Ile662Val, XP_047290841.1:p.Ile510Val, XP_047290845.1:p.Ile202Val

                                    18.

                                    rs1474783979 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:12046425 (GRCh38)
                                      16:12140282 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:12046424:G:A
                                      Gene:
                                      SNX29 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.12046425G>A, NC_000016.9:g.12140282G>A, XM_005255682.5:c.500G>A, XM_005255682.4:c.500G>A, XM_005255682.3:c.500G>A, XM_005255682.2:c.500G>A, XM_005255682.1:c.500G>A, NM_032167.5:c.470G>A, NM_032167.4:c.470G>A, NM_032167.3:c.470G>A, XM_005255683.5:c.500G>A, XM_005255683.4:c.500G>A, XM_005255683.3:c.500G>A, XM_005255683.2:c.500G>A, XM_005255683.1:c.500G>A, XM_011522738.4:c.500G>A, XM_011522738.3:c.500G>A, XM_011522738.2:c.500G>A, XM_011522738.1:c.500G>A, XM_011522741.4:c.500G>A, XM_011522741.3:c.500G>A, XM_011522741.2:c.500G>A, XM_011522741.1:c.500G>A, XM_011522744.4:c.500G>A, XM_011522744.3:c.500G>A, XM_011522744.2:c.500G>A, XM_011522744.1:c.500G>A, XM_011522743.4:c.500G>A, XM_011522743.3:c.500G>A, XM_011522743.2:c.500G>A, XM_011522743.1:c.500G>A, XM_017023873.3:c.500G>A, XM_017023873.2:c.500G>A, XM_017023873.1:c.500G>A, XR_001752024.3:n.778G>A, XR_001752024.2:n.719G>A, XR_001752024.1:n.715G>A, XM_017023876.3:c.500G>A, XM_017023876.2:c.500G>A, XM_017023876.1:c.500G>A, XM_017023874.2:c.470G>A, XM_017023874.1:c.470G>A, XM_047434886.1:c.14G>A, XM_047434884.1:c.470G>A, XM_047434879.1:c.500G>A, XM_047434880.1:c.500G>A, XM_047434882.1:c.500G>A, XM_047434881.1:c.470G>A, XM_047434883.1:c.470G>A, XM_047434885.1:c.14G>A, NM_001376490.1:c.470G>A, XM_047434887.1:c.470G>A, XP_005255739.1:p.Arg167Lys, NP_115543.3:p.Arg157Lys, XP_005255740.1:p.Arg167Lys, XP_011521040.1:p.Arg167Lys, XP_011521043.1:p.Arg167Lys, XP_011521046.1:p.Arg167Lys, XP_011521045.1:p.Arg167Lys, XP_016879362.1:p.Arg167Lys, XP_016879365.1:p.Arg167Lys, XP_016879363.1:p.Arg157Lys, XP_047290842.1:p.Arg5Lys, XP_047290840.1:p.Arg157Lys, XP_047290835.1:p.Arg167Lys, XP_047290836.1:p.Arg167Lys, XP_047290838.1:p.Arg167Lys, XP_047290837.1:p.Arg157Lys, XP_047290839.1:p.Arg157Lys, XP_047290841.1:p.Arg5Lys, NP_001363419.1:p.Arg157Lys, XP_047290843.1:p.Arg157Lys

                                      19.

                                      rs1473973946 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:12051850 (GRCh38)
                                        16:12145707 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:12051849:C:T
                                        Gene:
                                        SNX29 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.12051850C>T, NC_000016.9:g.12145707C>T, XM_005255682.5:c.782C>T, XM_005255682.4:c.782C>T, XM_005255682.3:c.782C>T, XM_005255682.2:c.782C>T, XM_005255682.1:c.782C>T, NM_032167.5:c.752C>T, NM_032167.4:c.752C>T, NM_032167.3:c.752C>T, XM_005255683.5:c.782C>T, XM_005255683.4:c.782C>T, XM_005255683.3:c.782C>T, XM_005255683.2:c.782C>T, XM_005255683.1:c.782C>T, XM_011522738.4:c.782C>T, XM_011522738.3:c.782C>T, XM_011522738.2:c.782C>T, XM_011522738.1:c.782C>T, XM_011522741.4:c.782C>T, XM_011522741.3:c.782C>T, XM_011522741.2:c.782C>T, XM_011522741.1:c.782C>T, XM_011522744.4:c.782C>T, XM_011522744.3:c.782C>T, XM_011522744.2:c.782C>T, XM_011522744.1:c.782C>T, XM_011522743.4:c.782C>T, XM_011522743.3:c.782C>T, XM_011522743.2:c.782C>T, XM_011522743.1:c.782C>T, XM_017023873.3:c.782C>T, XM_017023873.2:c.782C>T, XM_017023873.1:c.782C>T, XR_001752024.3:n.1060C>T, XR_001752024.2:n.1001C>T, XR_001752024.1:n.997C>T, XM_017023876.3:c.782C>T, XM_017023876.2:c.782C>T, XM_017023876.1:c.782C>T, XM_017023874.2:c.752C>T, XM_017023874.1:c.752C>T, XM_047434886.1:c.296C>T, XM_047434884.1:c.752C>T, XM_047434879.1:c.782C>T, XM_047434880.1:c.782C>T, XM_047434882.1:c.782C>T, XM_047434881.1:c.752C>T, XM_047434883.1:c.752C>T, XM_047434885.1:c.296C>T, NM_001376490.1:c.752C>T, XM_047434887.1:c.752C>T, XP_005255739.1:p.Ala261Val, NP_115543.3:p.Ala251Val, XP_005255740.1:p.Ala261Val, XP_011521040.1:p.Ala261Val, XP_011521043.1:p.Ala261Val, XP_011521046.1:p.Ala261Val, XP_011521045.1:p.Ala261Val, XP_016879362.1:p.Ala261Val, XP_016879365.1:p.Ala261Val, XP_016879363.1:p.Ala251Val, XP_047290842.1:p.Ala99Val, XP_047290840.1:p.Ala251Val, XP_047290835.1:p.Ala261Val, XP_047290836.1:p.Ala261Val, XP_047290838.1:p.Ala261Val, XP_047290837.1:p.Ala251Val, XP_047290839.1:p.Ala251Val, XP_047290841.1:p.Ala99Val, NP_001363419.1:p.Ala251Val, XP_047290843.1:p.Ala251Val

                                        20.

                                        rs1472608726 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:12477790 (GRCh38)
                                          16:12571647 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:12477789:C:T
                                          Gene:
                                          SNX29 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.12477790C>T, NC_000016.9:g.12571647C>T, XM_005255682.5:c.2139C>T, XM_005255682.4:c.2139C>T, XM_005255682.3:c.2139C>T, XM_005255682.2:c.2139C>T, XM_005255682.1:c.2139C>T, NM_032167.5:c.2109C>T, NM_032167.4:c.2109C>T, NM_032167.3:c.2109C>T, XM_011522738.4:c.2139C>T, XM_011522738.3:c.2139C>T, XM_011522738.2:c.2139C>T, XM_011522738.1:c.2139C>T, XM_011522741.4:c.2139C>T, XM_011522741.3:c.2139C>T, XM_011522741.2:c.2139C>T, XM_011522741.1:c.2139C>T, XM_011522744.4:c.2139C>T, XM_011522744.3:c.2139C>T, XM_011522744.2:c.2139C>T, XM_011522744.1:c.2139C>T, XM_011522743.4:c.2139C>T, XM_011522743.3:c.2139C>T, XM_011522743.2:c.2139C>T, XM_011522743.1:c.2139C>T, XM_017023873.3:c.2139C>T, XM_017023873.2:c.2139C>T, XM_017023873.1:c.2139C>T, XR_001752024.3:n.2417C>T, XR_001752024.2:n.2358C>T, XR_001752024.1:n.2354C>T, XM_017023874.2:c.2109C>T, XM_017023874.1:c.2109C>T, NM_001080530.2:c.954C>T, XM_047434886.1:c.1653C>T, XM_047434888.1:c.954C>T, XM_047434884.1:c.2109C>T, XM_047434879.1:c.2139C>T, XM_047434880.1:c.2139C>T, XM_047434882.1:c.2139C>T, XM_047434881.1:c.2109C>T, XM_047434883.1:c.2109C>T, XM_047434885.1:c.1653C>T, XM_047434889.1:c.729C>T, NM_001080530.1:c.1038C>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...