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Items: 1 to 20 of 715

1.

rs1489912517 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:58863841 (GRCh38)
    3:58849567 (GRCh37)
    Canonical SPDI:
    NC_000003.12:58863840:C:T
    Gene:
    CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,splice_acceptor_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000003.12:g.58863841C>T, NC_000003.11:g.58849567C>T, XM_011533455.4:c.1310G>A, XM_011533455.3:c.1310G>A, XM_011533455.2:c.1310G>A, XM_011533455.1:c.1310G>A, NM_198463.4:c.935G>A, NM_198463.3:c.935G>A, NM_198463.2:c.935G>A, XR_001740051.3:n.1704G>A, XR_001740051.2:n.1724G>A, XR_001740051.1:n.1724G>A, XR_001740053.3:n.1704G>A, XR_001740053.2:n.1724G>A, XR_001740053.1:n.1724G>A, XR_001740054.3:n.1704G>A, XR_001740054.2:n.1724G>A, XR_001740054.1:n.1724G>A, XM_005264929.3:c.1271G>A, XM_005264929.2:c.1271G>A, XM_005264929.1:c.1271G>A, XR_940388.3:n.1704G>A, XR_940388.2:n.1724G>A, XR_940388.1:n.1728G>A, XM_011533456.3:c.935G>A, XM_011533456.2:c.935G>A, XM_011533456.1:c.935G>A, XR_940389.3:n.1704G>A, XR_940389.2:n.1724G>A, XR_940389.1:n.1727G>A, XM_011533459.3:c.1310G>A, XM_011533459.2:c.1310G>A, XM_011533459.1:c.1310G>A, XM_011533458.3:c.935G>A, XM_011533458.2:c.935G>A, XM_011533458.1:c.935G>A, XM_011533460.3:c.773G>A, XM_011533460.2:c.773G>A, XM_011533460.1:c.773G>A, XR_001740052.2:n.1704G>A, XR_001740052.1:n.1724G>A, NR_147234.2:n.1508G>A, NR_147234.1:n.1515G>A, NM_001351531.2:c.695G>A, NM_001351531.1:c.695G>A, NM_001351530.2:c.1145G>A, NM_001351530.1:c.1145G>A, XM_024453385.2:c.1310G>A, XM_024453385.1:c.1310G>A, XM_011533457.2:c.935G>A, XM_011533457.1:c.935G>A, NM_001351532.2:c.380G>A, NM_001351532.1:c.380G>A, XM_024453386.2:c.695G>A, XM_024453386.1:c.695G>A, XR_007095646.1:n.1539G>A, XR_007095648.1:n.1704G>A, NM_001394063.1:c.1310G>A, XM_047447655.1:c.1106G>A, XM_047447656.1:c.1145G>A, XM_047447658.1:c.695G>A, XM_047447657.1:c.476G>A, XM_047447659.1:c.476G>A, XP_011531757.1:p.Ser437Asn, NP_940865.1:p.Ser312Asn, XP_005264986.1:p.Ser424Asn, XP_011531758.1:p.Ser312Asn, XP_011531761.1:p.Ser437Asn, XP_011531760.1:p.Ser312Asn, XP_011531762.1:p.Ser258Asn, NP_001338460.1:p.Ser232Asn, NP_001338459.1:p.Ser382Asn, XP_024309153.1:p.Ser437Asn, XP_011531759.1:p.Ser312Asn, NP_001338461.1:p.Ser127Asn, XP_024309154.1:p.Ser232Asn, NP_001380992.1:p.Ser437Asn, XP_047303611.1:p.Ser369Asn, XP_047303612.1:p.Ser382Asn, XP_047303614.1:p.Ser232Asn, XP_047303613.1:p.Ser159Asn, XP_047303615.1:p.Ser159Asn

    2.

    rs1489080224 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:58831870 (GRCh38)
      3:58817596 (GRCh37)
      Canonical SPDI:
      NC_000003.12:58831869:T:C
      Gene:
      CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000015/4 (TOPMED)
      HGVS:
      NC_000003.12:g.58831870T>C, NC_000003.11:g.58817596T>C, XM_011533455.4:c.1991A>G, XM_011533455.3:c.1991A>G, XM_011533455.2:c.1991A>G, XM_011533455.1:c.1991A>G, NM_198463.4:c.1238A>G, NM_198463.3:c.1238A>G, NM_198463.2:c.1238A>G, XR_001740051.3:n.2385A>G, XR_001740051.2:n.2405A>G, XR_001740051.1:n.2405A>G, XR_001740053.3:n.2385A>G, XR_001740053.2:n.2405A>G, XR_001740053.1:n.2405A>G, XR_001740054.3:n.2385A>G, XR_001740054.2:n.2405A>G, XR_001740054.1:n.2405A>G, XM_005264929.3:c.1952A>G, XM_005264929.2:c.1952A>G, XM_005264929.1:c.1952A>G, XR_940388.3:n.2385A>G, XR_940388.2:n.2405A>G, XR_940388.1:n.2409A>G, XM_011533456.3:c.1616A>G, XM_011533456.2:c.1616A>G, XM_011533456.1:c.1616A>G, XR_940389.3:n.2385A>G, XR_940389.2:n.2405A>G, XR_940389.1:n.2408A>G, XM_011533459.3:c.1613A>G, XM_011533459.2:c.1613A>G, XM_011533459.1:c.1613A>G, XM_011533458.3:c.1616A>G, XM_011533458.2:c.1616A>G, XM_011533458.1:c.1616A>G, XM_011533460.3:c.1454A>G, XM_011533460.2:c.1454A>G, XM_011533460.1:c.1454A>G, XR_001740052.2:n.2385A>G, XR_001740052.1:n.2405A>G, NM_001351531.2:c.1376A>G, NM_001351531.1:c.1376A>G, NM_001351530.2:c.1826A>G, NM_001351530.1:c.1826A>G, XM_024453385.2:c.1991A>G, XM_024453385.1:c.1991A>G, XM_011533457.2:c.1616A>G, XM_011533457.1:c.1616A>G, NM_001351532.2:c.1061A>G, NM_001351532.1:c.1061A>G, XM_024453386.2:c.1376A>G, XM_024453386.1:c.1376A>G, XR_007095646.1:n.2220A>G, XR_007095648.1:n.2007A>G, NM_001394063.1:c.1991A>G, XM_047447655.1:c.1787A>G, XM_047447656.1:c.1448A>G, XM_047447658.1:c.1376A>G, XM_047447657.1:c.1157A>G, XM_047447659.1:c.1157A>G, XP_011531757.1:p.Tyr664Cys, NP_940865.1:p.Tyr413Cys, XP_005264986.1:p.Tyr651Cys, XP_011531758.1:p.Tyr539Cys, XP_011531761.1:p.Tyr538Cys, XP_011531760.1:p.Tyr539Cys, XP_011531762.1:p.Tyr485Cys, NP_001338460.1:p.Tyr459Cys, NP_001338459.1:p.Tyr609Cys, XP_024309153.1:p.Tyr664Cys, XP_011531759.1:p.Tyr539Cys, NP_001338461.1:p.Tyr354Cys, XP_024309154.1:p.Tyr459Cys, NP_001380992.1:p.Tyr664Cys, XP_047303611.1:p.Tyr596Cys, XP_047303612.1:p.Tyr483Cys, XP_047303614.1:p.Tyr459Cys, XP_047303613.1:p.Tyr386Cys, XP_047303615.1:p.Tyr386Cys

      3.

      rs1487800062 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        3:58849246 (GRCh38)
        3:58834972 (GRCh37)
        Canonical SPDI:
        NC_000003.12:58849245:G:A,NC_000003.12:58849245:G:C
        Gene:
        CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_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_000003.12:g.58849246G>A, NC_000003.12:g.58849246G>C, NC_000003.11:g.58834972G>A, NC_000003.11:g.58834972G>C, XM_011533455.4:c.1757C>T, XM_011533455.4:c.1757C>G, XM_011533455.3:c.1757C>T, XM_011533455.3:c.1757C>G, XM_011533455.2:c.1757C>T, XM_011533455.2:c.1757C>G, XM_011533455.1:c.1757C>T, XM_011533455.1:c.1757C>G, XR_001740051.3:n.2151C>T, XR_001740051.3:n.2151C>G, XR_001740051.2:n.2171C>T, XR_001740051.2:n.2171C>G, XR_001740051.1:n.2171C>T, XR_001740051.1:n.2171C>G, XR_001740053.3:n.2151C>T, XR_001740053.3:n.2151C>G, XR_001740053.2:n.2171C>T, XR_001740053.2:n.2171C>G, XR_001740053.1:n.2171C>T, XR_001740053.1:n.2171C>G, XR_001740054.3:n.2151C>T, XR_001740054.3:n.2151C>G, XR_001740054.2:n.2171C>T, XR_001740054.2:n.2171C>G, XR_001740054.1:n.2171C>T, XR_001740054.1:n.2171C>G, XM_005264929.3:c.1718C>T, XM_005264929.3:c.1718C>G, XM_005264929.2:c.1718C>T, XM_005264929.2:c.1718C>G, XM_005264929.1:c.1718C>T, XM_005264929.1:c.1718C>G, XR_940388.3:n.2151C>T, XR_940388.3:n.2151C>G, XR_940388.2:n.2171C>T, XR_940388.2:n.2171C>G, XR_940388.1:n.2175C>T, XR_940388.1:n.2175C>G, XM_011533456.3:c.1382C>T, XM_011533456.3:c.1382C>G, XM_011533456.2:c.1382C>T, XM_011533456.2:c.1382C>G, XM_011533456.1:c.1382C>T, XM_011533456.1:c.1382C>G, XR_940389.3:n.2151C>T, XR_940389.3:n.2151C>G, XR_940389.2:n.2171C>T, XR_940389.2:n.2171C>G, XR_940389.1:n.2174C>T, XR_940389.1:n.2174C>G, XM_011533458.3:c.1382C>T, XM_011533458.3:c.1382C>G, XM_011533458.2:c.1382C>T, XM_011533458.2:c.1382C>G, XM_011533458.1:c.1382C>T, XM_011533458.1:c.1382C>G, XM_011533460.3:c.1220C>T, XM_011533460.3:c.1220C>G, XM_011533460.2:c.1220C>T, XM_011533460.2:c.1220C>G, XM_011533460.1:c.1220C>T, XM_011533460.1:c.1220C>G, XR_001740052.2:n.2151C>T, XR_001740052.2:n.2151C>G, XR_001740052.1:n.2171C>T, XR_001740052.1:n.2171C>G, NM_001351531.2:c.1142C>T, NM_001351531.2:c.1142C>G, NM_001351531.1:c.1142C>T, NM_001351531.1:c.1142C>G, NM_001351530.2:c.1592C>T, NM_001351530.2:c.1592C>G, NM_001351530.1:c.1592C>T, NM_001351530.1:c.1592C>G, XM_024453385.2:c.1757C>T, XM_024453385.2:c.1757C>G, XM_024453385.1:c.1757C>T, XM_024453385.1:c.1757C>G, XM_011533457.2:c.1382C>T, XM_011533457.2:c.1382C>G, XM_011533457.1:c.1382C>T, XM_011533457.1:c.1382C>G, NM_001351532.2:c.827C>T, NM_001351532.2:c.827C>G, NM_001351532.1:c.827C>T, NM_001351532.1:c.827C>G, XM_024453386.2:c.1142C>T, XM_024453386.2:c.1142C>G, XM_024453386.1:c.1142C>T, XM_024453386.1:c.1142C>G, XR_007095646.1:n.1986C>T, XR_007095646.1:n.1986C>G, NM_001394063.1:c.1757C>T, NM_001394063.1:c.1757C>G, XM_047447655.1:c.1553C>T, XM_047447655.1:c.1553C>G, XM_047447658.1:c.1142C>T, XM_047447658.1:c.1142C>G, XM_047447657.1:c.923C>T, XM_047447657.1:c.923C>G, XM_047447659.1:c.923C>T, XM_047447659.1:c.923C>G, XP_011531757.1:p.Ser586Leu, XP_011531757.1:p.Ser586Trp, XP_005264986.1:p.Ser573Leu, XP_005264986.1:p.Ser573Trp, XP_011531758.1:p.Ser461Leu, XP_011531758.1:p.Ser461Trp, XP_011531760.1:p.Ser461Leu, XP_011531760.1:p.Ser461Trp, XP_011531762.1:p.Ser407Leu, XP_011531762.1:p.Ser407Trp, NP_001338460.1:p.Ser381Leu, NP_001338460.1:p.Ser381Trp, NP_001338459.1:p.Ser531Leu, NP_001338459.1:p.Ser531Trp, XP_024309153.1:p.Ser586Leu, XP_024309153.1:p.Ser586Trp, XP_011531759.1:p.Ser461Leu, XP_011531759.1:p.Ser461Trp, NP_001338461.1:p.Ser276Leu, NP_001338461.1:p.Ser276Trp, XP_024309154.1:p.Ser381Leu, XP_024309154.1:p.Ser381Trp, NP_001380992.1:p.Ser586Leu, NP_001380992.1:p.Ser586Trp, XP_047303611.1:p.Ser518Leu, XP_047303611.1:p.Ser518Trp, XP_047303614.1:p.Ser381Leu, XP_047303614.1:p.Ser381Trp, XP_047303613.1:p.Ser308Leu, XP_047303613.1:p.Ser308Trp, XP_047303615.1:p.Ser308Leu, XP_047303615.1:p.Ser308Trp

        4.

        rs1487532243 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          3:58884589 (GRCh38)
          3:58870315 (GRCh37)
          Canonical SPDI:
          NC_000003.12:58884588:G:C
          Gene:
          CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.58884589G>C, NC_000003.11:g.58870315G>C, XM_011533455.4:c.671C>G, XM_011533455.3:c.671C>G, XM_011533455.2:c.671C>G, XM_011533455.1:c.671C>G, NM_198463.4:c.296C>G, NM_198463.3:c.296C>G, NM_198463.2:c.296C>G, XR_001740051.3:n.1065C>G, XR_001740051.2:n.1085C>G, XR_001740051.1:n.1085C>G, XR_001740053.3:n.1065C>G, XR_001740053.2:n.1085C>G, XR_001740053.1:n.1085C>G, XR_001740054.3:n.1065C>G, XR_001740054.2:n.1085C>G, XR_001740054.1:n.1085C>G, XM_005264929.3:c.671C>G, XM_005264929.2:c.671C>G, XM_005264929.1:c.671C>G, XR_940388.3:n.1065C>G, XR_940388.2:n.1085C>G, XR_940388.1:n.1089C>G, XM_011533456.3:c.296C>G, XM_011533456.2:c.296C>G, XM_011533456.1:c.296C>G, XR_940389.3:n.1065C>G, XR_940389.2:n.1085C>G, XR_940389.1:n.1088C>G, XM_011533459.3:c.671C>G, XM_011533459.2:c.671C>G, XM_011533459.1:c.671C>G, XM_011533458.3:c.296C>G, XM_011533458.2:c.296C>G, XM_011533458.1:c.296C>G, XM_011533460.3:c.134C>G, XM_011533460.2:c.134C>G, XM_011533460.1:c.134C>G, XR_001740052.2:n.1065C>G, XR_001740052.1:n.1085C>G, NR_147234.2:n.908C>G, NR_147234.1:n.915C>G, NM_001351533.2:c.671C>G, NM_001351533.1:c.671C>G, NM_001351531.2:c.56C>G, NM_001351531.1:c.56C>G, XM_024453385.2:c.671C>G, XM_024453385.1:c.671C>G, XM_011533457.2:c.296C>G, XM_011533457.1:c.296C>G, NM_001351532.2:c.-271C>G, NM_001351532.1:c.-271C>G, XM_024453386.2:c.56C>G, XM_024453386.1:c.56C>G, XR_940390.2:n.1065C>G, XR_940390.1:n.1085C>G, XR_007095648.1:n.1065C>G, NM_001394063.1:c.671C>G, XM_047447658.1:c.56C>G, XP_011531757.1:p.Thr224Ser, NP_940865.1:p.Thr99Ser, XP_005264986.1:p.Thr224Ser, XP_011531758.1:p.Thr99Ser, XP_011531761.1:p.Thr224Ser, XP_011531760.1:p.Thr99Ser, XP_011531762.1:p.Thr45Ser, NP_001338462.1:p.Thr224Ser, NP_001338460.1:p.Thr19Ser, XP_024309153.1:p.Thr224Ser, XP_011531759.1:p.Thr99Ser, XP_024309154.1:p.Thr19Ser, NP_001380992.1:p.Thr224Ser, XP_047303614.1:p.Thr19Ser

          5.

          rs1486414246 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            3:58866580 (GRCh38)
            3:58852306 (GRCh37)
            Canonical SPDI:
            NC_000003.12:58866579:G:C
            Gene:
            CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000047/1 (ALFA)
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.58866580G>C, NC_000003.11:g.58852306G>C, XM_011533455.4:c.1244C>G, XM_011533455.3:c.1244C>G, XM_011533455.2:c.1244C>G, XM_011533455.1:c.1244C>G, NM_198463.4:c.869C>G, NM_198463.3:c.869C>G, NM_198463.2:c.869C>G, XR_001740051.3:n.1638C>G, XR_001740051.2:n.1658C>G, XR_001740051.1:n.1658C>G, XR_001740053.3:n.1638C>G, XR_001740053.2:n.1658C>G, XR_001740053.1:n.1658C>G, XR_001740054.3:n.1638C>G, XR_001740054.2:n.1658C>G, XR_001740054.1:n.1658C>G, XM_005264929.3:c.1205C>G, XM_005264929.2:c.1205C>G, XM_005264929.1:c.1205C>G, XR_940388.3:n.1638C>G, XR_940388.2:n.1658C>G, XR_940388.1:n.1662C>G, XM_011533456.3:c.869C>G, XM_011533456.2:c.869C>G, XM_011533456.1:c.869C>G, XR_940389.3:n.1638C>G, XR_940389.2:n.1658C>G, XR_940389.1:n.1661C>G, XM_011533459.3:c.1244C>G, XM_011533459.2:c.1244C>G, XM_011533459.1:c.1244C>G, XM_011533458.3:c.869C>G, XM_011533458.2:c.869C>G, XM_011533458.1:c.869C>G, XM_011533460.3:c.707C>G, XM_011533460.2:c.707C>G, XM_011533460.1:c.707C>G, XR_001740052.2:n.1638C>G, XR_001740052.1:n.1658C>G, NR_147234.2:n.1442C>G, NR_147234.1:n.1449C>G, NM_001351531.2:c.629C>G, NM_001351531.1:c.629C>G, NM_001351530.2:c.1079C>G, NM_001351530.1:c.1079C>G, XM_024453385.2:c.1244C>G, XM_024453385.1:c.1244C>G, XM_011533457.2:c.869C>G, XM_011533457.1:c.869C>G, NM_001351532.2:c.314C>G, NM_001351532.1:c.314C>G, XM_024453386.2:c.629C>G, XM_024453386.1:c.629C>G, XR_940390.2:n.1638C>G, XR_940390.1:n.1658C>G, XR_007095646.1:n.1473C>G, XR_007095648.1:n.1638C>G, NM_001394063.1:c.1244C>G, XM_047447655.1:c.1040C>G, XM_047447656.1:c.1079C>G, XM_047447658.1:c.629C>G, XM_047447657.1:c.410C>G, XM_047447659.1:c.410C>G, XP_011531757.1:p.Ser415Cys, NP_940865.1:p.Ser290Cys, XP_005264986.1:p.Ser402Cys, XP_011531758.1:p.Ser290Cys, XP_011531761.1:p.Ser415Cys, XP_011531760.1:p.Ser290Cys, XP_011531762.1:p.Ser236Cys, NP_001338460.1:p.Ser210Cys, NP_001338459.1:p.Ser360Cys, XP_024309153.1:p.Ser415Cys, XP_011531759.1:p.Ser290Cys, NP_001338461.1:p.Ser105Cys, XP_024309154.1:p.Ser210Cys, NP_001380992.1:p.Ser415Cys, XP_047303611.1:p.Ser347Cys, XP_047303612.1:p.Ser360Cys, XP_047303614.1:p.Ser210Cys, XP_047303613.1:p.Ser137Cys, XP_047303615.1:p.Ser137Cys

            6.

            rs1486401737 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              3:58849286 (GRCh38)
              3:58835012 (GRCh37)
              Canonical SPDI:
              NC_000003.12:58849285:C:G,NC_000003.12:58849285:C:T
              Gene:
              CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000023/6 (TOPMED)
              HGVS:
              NC_000003.12:g.58849286C>G, NC_000003.12:g.58849286C>T, NC_000003.11:g.58835012C>G, NC_000003.11:g.58835012C>T, XM_011533455.4:c.1717G>C, XM_011533455.4:c.1717G>A, XM_011533455.3:c.1717G>C, XM_011533455.3:c.1717G>A, XM_011533455.2:c.1717G>C, XM_011533455.2:c.1717G>A, XM_011533455.1:c.1717G>C, XM_011533455.1:c.1717G>A, XR_001740051.3:n.2111G>C, XR_001740051.3:n.2111G>A, XR_001740051.2:n.2131G>C, XR_001740051.2:n.2131G>A, XR_001740051.1:n.2131G>C, XR_001740051.1:n.2131G>A, XR_001740053.3:n.2111G>C, XR_001740053.3:n.2111G>A, XR_001740053.2:n.2131G>C, XR_001740053.2:n.2131G>A, XR_001740053.1:n.2131G>C, XR_001740053.1:n.2131G>A, XR_001740054.3:n.2111G>C, XR_001740054.3:n.2111G>A, XR_001740054.2:n.2131G>C, XR_001740054.2:n.2131G>A, XR_001740054.1:n.2131G>C, XR_001740054.1:n.2131G>A, XM_005264929.3:c.1678G>C, XM_005264929.3:c.1678G>A, XM_005264929.2:c.1678G>C, XM_005264929.2:c.1678G>A, XM_005264929.1:c.1678G>C, XM_005264929.1:c.1678G>A, XR_940388.3:n.2111G>C, XR_940388.3:n.2111G>A, XR_940388.2:n.2131G>C, XR_940388.2:n.2131G>A, XR_940388.1:n.2135G>C, XR_940388.1:n.2135G>A, XM_011533456.3:c.1342G>C, XM_011533456.3:c.1342G>A, XM_011533456.2:c.1342G>C, XM_011533456.2:c.1342G>A, XM_011533456.1:c.1342G>C, XM_011533456.1:c.1342G>A, XR_940389.3:n.2111G>C, XR_940389.3:n.2111G>A, XR_940389.2:n.2131G>C, XR_940389.2:n.2131G>A, XR_940389.1:n.2134G>C, XR_940389.1:n.2134G>A, XM_011533458.3:c.1342G>C, XM_011533458.3:c.1342G>A, XM_011533458.2:c.1342G>C, XM_011533458.2:c.1342G>A, XM_011533458.1:c.1342G>C, XM_011533458.1:c.1342G>A, XM_011533460.3:c.1180G>C, XM_011533460.3:c.1180G>A, XM_011533460.2:c.1180G>C, XM_011533460.2:c.1180G>A, XM_011533460.1:c.1180G>C, XM_011533460.1:c.1180G>A, XR_001740052.2:n.2111G>C, XR_001740052.2:n.2111G>A, XR_001740052.1:n.2131G>C, XR_001740052.1:n.2131G>A, NM_001351531.2:c.1102G>C, NM_001351531.2:c.1102G>A, NM_001351531.1:c.1102G>C, NM_001351531.1:c.1102G>A, NM_001351530.2:c.1552G>C, NM_001351530.2:c.1552G>A, NM_001351530.1:c.1552G>C, NM_001351530.1:c.1552G>A, XM_024453385.2:c.1717G>C, XM_024453385.2:c.1717G>A, XM_024453385.1:c.1717G>C, XM_024453385.1:c.1717G>A, XM_011533457.2:c.1342G>C, XM_011533457.2:c.1342G>A, XM_011533457.1:c.1342G>C, XM_011533457.1:c.1342G>A, NM_001351532.2:c.787G>C, NM_001351532.2:c.787G>A, NM_001351532.1:c.787G>C, NM_001351532.1:c.787G>A, XM_024453386.2:c.1102G>C, XM_024453386.2:c.1102G>A, XM_024453386.1:c.1102G>C, XM_024453386.1:c.1102G>A, XR_007095646.1:n.1946G>C, XR_007095646.1:n.1946G>A, NM_001394063.1:c.1717G>C, NM_001394063.1:c.1717G>A, XM_047447655.1:c.1513G>C, XM_047447655.1:c.1513G>A, XM_047447658.1:c.1102G>C, XM_047447658.1:c.1102G>A, XM_047447657.1:c.883G>C, XM_047447657.1:c.883G>A, XM_047447659.1:c.883G>C, XM_047447659.1:c.883G>A, XP_011531757.1:p.Ala573Pro, XP_011531757.1:p.Ala573Thr, XP_005264986.1:p.Ala560Pro, XP_005264986.1:p.Ala560Thr, XP_011531758.1:p.Ala448Pro, XP_011531758.1:p.Ala448Thr, XP_011531760.1:p.Ala448Pro, XP_011531760.1:p.Ala448Thr, XP_011531762.1:p.Ala394Pro, XP_011531762.1:p.Ala394Thr, NP_001338460.1:p.Ala368Pro, NP_001338460.1:p.Ala368Thr, NP_001338459.1:p.Ala518Pro, NP_001338459.1:p.Ala518Thr, XP_024309153.1:p.Ala573Pro, XP_024309153.1:p.Ala573Thr, XP_011531759.1:p.Ala448Pro, XP_011531759.1:p.Ala448Thr, NP_001338461.1:p.Ala263Pro, NP_001338461.1:p.Ala263Thr, XP_024309154.1:p.Ala368Pro, XP_024309154.1:p.Ala368Thr, NP_001380992.1:p.Ala573Pro, NP_001380992.1:p.Ala573Thr, XP_047303611.1:p.Ala505Pro, XP_047303611.1:p.Ala505Thr, XP_047303614.1:p.Ala368Pro, XP_047303614.1:p.Ala368Thr, XP_047303613.1:p.Ala295Pro, XP_047303613.1:p.Ala295Thr, XP_047303615.1:p.Ala295Pro, XP_047303615.1:p.Ala295Thr

              7.

              rs1486073427 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:58863628 (GRCh38)
                3:58849354 (GRCh37)
                Canonical SPDI:
                NC_000003.12:58863627:T:C
                Gene:
                CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000019/5 (TOPMED)
                C=0.000032/8 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.58863628T>C, NC_000003.11:g.58849354T>C, XM_011533455.4:c.1523A>G, XM_011533455.3:c.1523A>G, XM_011533455.2:c.1523A>G, XM_011533455.1:c.1523A>G, NM_198463.4:c.1148A>G, NM_198463.3:c.1148A>G, NM_198463.2:c.1148A>G, XR_001740051.3:n.1917A>G, XR_001740051.2:n.1937A>G, XR_001740051.1:n.1937A>G, XR_001740053.3:n.1917A>G, XR_001740053.2:n.1937A>G, XR_001740053.1:n.1937A>G, XR_001740054.3:n.1917A>G, XR_001740054.2:n.1937A>G, XR_001740054.1:n.1937A>G, XM_005264929.3:c.1484A>G, XM_005264929.2:c.1484A>G, XM_005264929.1:c.1484A>G, XR_940388.3:n.1917A>G, XR_940388.2:n.1937A>G, XR_940388.1:n.1941A>G, XM_011533456.3:c.1148A>G, XM_011533456.2:c.1148A>G, XM_011533456.1:c.1148A>G, XR_940389.3:n.1917A>G, XR_940389.2:n.1937A>G, XR_940389.1:n.1940A>G, XM_011533459.3:c.1523A>G, XM_011533459.2:c.1523A>G, XM_011533459.1:c.1523A>G, XM_011533458.3:c.1148A>G, XM_011533458.2:c.1148A>G, XM_011533458.1:c.1148A>G, XM_011533460.3:c.986A>G, XM_011533460.2:c.986A>G, XM_011533460.1:c.986A>G, XR_001740052.2:n.1917A>G, XR_001740052.1:n.1937A>G, NR_147234.2:n.1721A>G, NR_147234.1:n.1728A>G, NM_001351531.2:c.908A>G, NM_001351531.1:c.908A>G, NM_001351530.2:c.1358A>G, NM_001351530.1:c.1358A>G, XM_024453385.2:c.1523A>G, XM_024453385.1:c.1523A>G, XM_011533457.2:c.1148A>G, XM_011533457.1:c.1148A>G, NM_001351532.2:c.593A>G, NM_001351532.1:c.593A>G, XM_024453386.2:c.908A>G, XM_024453386.1:c.908A>G, XR_940390.2:n.1865A>G, XR_940390.1:n.1885A>G, XR_007095646.1:n.1752A>G, XR_007095648.1:n.1917A>G, NM_001394063.1:c.1523A>G, XM_047447655.1:c.1319A>G, XM_047447656.1:c.1358A>G, XM_047447658.1:c.908A>G, XM_047447657.1:c.689A>G, XM_047447659.1:c.689A>G, XP_011531757.1:p.Glu508Gly, NP_940865.1:p.Glu383Gly, XP_005264986.1:p.Glu495Gly, XP_011531758.1:p.Glu383Gly, XP_011531761.1:p.Glu508Gly, XP_011531760.1:p.Glu383Gly, XP_011531762.1:p.Glu329Gly, NP_001338460.1:p.Glu303Gly, NP_001338459.1:p.Glu453Gly, XP_024309153.1:p.Glu508Gly, XP_011531759.1:p.Glu383Gly, NP_001338461.1:p.Glu198Gly, XP_024309154.1:p.Glu303Gly, NP_001380992.1:p.Glu508Gly, XP_047303611.1:p.Glu440Gly, XP_047303612.1:p.Glu453Gly, XP_047303614.1:p.Glu303Gly, XP_047303613.1:p.Glu230Gly, XP_047303615.1:p.Glu230Gly

                8.

                rs1485959397 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  3:58849290 (GRCh38)
                  3:58835016 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:58849289:C:A
                  Gene:
                  CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD_exomes)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000003.12:g.58849290C>A, NC_000003.11:g.58835016C>A, XM_011533455.4:c.1713G>T, XM_011533455.3:c.1713G>T, XM_011533455.2:c.1713G>T, XM_011533455.1:c.1713G>T, XR_001740051.3:n.2107G>T, XR_001740051.2:n.2127G>T, XR_001740051.1:n.2127G>T, XR_001740053.3:n.2107G>T, XR_001740053.2:n.2127G>T, XR_001740053.1:n.2127G>T, XR_001740054.3:n.2107G>T, XR_001740054.2:n.2127G>T, XR_001740054.1:n.2127G>T, XM_005264929.3:c.1674G>T, XM_005264929.2:c.1674G>T, XM_005264929.1:c.1674G>T, XR_940388.3:n.2107G>T, XR_940388.2:n.2127G>T, XR_940388.1:n.2131G>T, XM_011533456.3:c.1338G>T, XM_011533456.2:c.1338G>T, XM_011533456.1:c.1338G>T, XR_940389.3:n.2107G>T, XR_940389.2:n.2127G>T, XR_940389.1:n.2130G>T, XM_011533458.3:c.1338G>T, XM_011533458.2:c.1338G>T, XM_011533458.1:c.1338G>T, XM_011533460.3:c.1176G>T, XM_011533460.2:c.1176G>T, XM_011533460.1:c.1176G>T, XR_001740052.2:n.2107G>T, XR_001740052.1:n.2127G>T, NM_001351531.2:c.1098G>T, NM_001351531.1:c.1098G>T, NM_001351530.2:c.1548G>T, NM_001351530.1:c.1548G>T, XM_024453385.2:c.1713G>T, XM_024453385.1:c.1713G>T, XM_011533457.2:c.1338G>T, XM_011533457.1:c.1338G>T, NM_001351532.2:c.783G>T, NM_001351532.1:c.783G>T, XM_024453386.2:c.1098G>T, XM_024453386.1:c.1098G>T, XR_007095646.1:n.1942G>T, NM_001394063.1:c.1713G>T, XM_047447655.1:c.1509G>T, XM_047447658.1:c.1098G>T, XM_047447657.1:c.879G>T, XM_047447659.1:c.879G>T, XP_011531757.1:p.Arg571Ser, XP_005264986.1:p.Arg558Ser, XP_011531758.1:p.Arg446Ser, XP_011531760.1:p.Arg446Ser, XP_011531762.1:p.Arg392Ser, NP_001338460.1:p.Arg366Ser, NP_001338459.1:p.Arg516Ser, XP_024309153.1:p.Arg571Ser, XP_011531759.1:p.Arg446Ser, NP_001338461.1:p.Arg261Ser, XP_024309154.1:p.Arg366Ser, NP_001380992.1:p.Arg571Ser, XP_047303611.1:p.Arg503Ser, XP_047303614.1:p.Arg366Ser, XP_047303613.1:p.Arg293Ser, XP_047303615.1:p.Arg293Ser

                  9.

                  rs1485730365 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:58849150 (GRCh38)
                    3:58834876 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:58849149:G:A
                    Gene:
                    CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.58849150G>A, NC_000003.11:g.58834876G>A, XM_011533455.4:c.1853C>T, XM_011533455.3:c.1853C>T, XM_011533455.2:c.1853C>T, XM_011533455.1:c.1853C>T, XR_001740051.3:n.2247C>T, XR_001740051.2:n.2267C>T, XR_001740051.1:n.2267C>T, XR_001740053.3:n.2247C>T, XR_001740053.2:n.2267C>T, XR_001740053.1:n.2267C>T, XR_001740054.3:n.2247C>T, XR_001740054.2:n.2267C>T, XR_001740054.1:n.2267C>T, XM_005264929.3:c.1814C>T, XM_005264929.2:c.1814C>T, XM_005264929.1:c.1814C>T, XR_940388.3:n.2247C>T, XR_940388.2:n.2267C>T, XR_940388.1:n.2271C>T, XM_011533456.3:c.1478C>T, XM_011533456.2:c.1478C>T, XM_011533456.1:c.1478C>T, XR_940389.3:n.2247C>T, XR_940389.2:n.2267C>T, XR_940389.1:n.2270C>T, XM_011533458.3:c.1478C>T, XM_011533458.2:c.1478C>T, XM_011533458.1:c.1478C>T, XM_011533460.3:c.1316C>T, XM_011533460.2:c.1316C>T, XM_011533460.1:c.1316C>T, XR_001740052.2:n.2247C>T, XR_001740052.1:n.2267C>T, NM_001351531.2:c.1238C>T, NM_001351531.1:c.1238C>T, NM_001351530.2:c.1688C>T, NM_001351530.1:c.1688C>T, XM_024453385.2:c.1853C>T, XM_024453385.1:c.1853C>T, XM_011533457.2:c.1478C>T, XM_011533457.1:c.1478C>T, NM_001351532.2:c.923C>T, NM_001351532.1:c.923C>T, XM_024453386.2:c.1238C>T, XM_024453386.1:c.1238C>T, XR_007095646.1:n.2082C>T, NM_001394063.1:c.1853C>T, XM_047447655.1:c.1649C>T, XM_047447658.1:c.1238C>T, XM_047447657.1:c.1019C>T, XM_047447659.1:c.1019C>T, XP_011531757.1:p.Thr618Ile, XP_005264986.1:p.Thr605Ile, XP_011531758.1:p.Thr493Ile, XP_011531760.1:p.Thr493Ile, XP_011531762.1:p.Thr439Ile, NP_001338460.1:p.Thr413Ile, NP_001338459.1:p.Thr563Ile, XP_024309153.1:p.Thr618Ile, XP_011531759.1:p.Thr493Ile, NP_001338461.1:p.Thr308Ile, XP_024309154.1:p.Thr413Ile, NP_001380992.1:p.Thr618Ile, XP_047303611.1:p.Thr550Ile, XP_047303614.1:p.Thr413Ile, XP_047303613.1:p.Thr340Ile, XP_047303615.1:p.Thr340Ile

                    10.

                    rs1485413062 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:58831864 (GRCh38)
                      3:58817590 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:58831863:G:C
                      Gene:
                      CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000051/1 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.58831864G>C, NC_000003.11:g.58817590G>C, XM_011533455.4:c.1997C>G, XM_011533455.3:c.1997C>G, XM_011533455.2:c.1997C>G, XM_011533455.1:c.1997C>G, NM_198463.4:c.1244C>G, NM_198463.3:c.1244C>G, NM_198463.2:c.1244C>G, XR_001740051.3:n.2391C>G, XR_001740051.2:n.2411C>G, XR_001740051.1:n.2411C>G, XR_001740053.3:n.2391C>G, XR_001740053.2:n.2411C>G, XR_001740053.1:n.2411C>G, XR_001740054.3:n.2391C>G, XR_001740054.2:n.2411C>G, XR_001740054.1:n.2411C>G, XM_005264929.3:c.1958C>G, XM_005264929.2:c.1958C>G, XM_005264929.1:c.1958C>G, XR_940388.3:n.2391C>G, XR_940388.2:n.2411C>G, XR_940388.1:n.2415C>G, XM_011533456.3:c.1622C>G, XM_011533456.2:c.1622C>G, XM_011533456.1:c.1622C>G, XR_940389.3:n.2391C>G, XR_940389.2:n.2411C>G, XR_940389.1:n.2414C>G, XM_011533459.3:c.1619C>G, XM_011533459.2:c.1619C>G, XM_011533459.1:c.1619C>G, XM_011533458.3:c.1622C>G, XM_011533458.2:c.1622C>G, XM_011533458.1:c.1622C>G, XM_011533460.3:c.1460C>G, XM_011533460.2:c.1460C>G, XM_011533460.1:c.1460C>G, XR_001740052.2:n.2391C>G, XR_001740052.1:n.2411C>G, NM_001351531.2:c.1382C>G, NM_001351531.1:c.1382C>G, NM_001351530.2:c.1832C>G, NM_001351530.1:c.1832C>G, XM_024453385.2:c.1997C>G, XM_024453385.1:c.1997C>G, XM_011533457.2:c.1622C>G, XM_011533457.1:c.1622C>G, NM_001351532.2:c.1067C>G, NM_001351532.1:c.1067C>G, XM_024453386.2:c.1382C>G, XM_024453386.1:c.1382C>G, XR_007095646.1:n.2226C>G, XR_007095648.1:n.2013C>G, NM_001394063.1:c.1997C>G, XM_047447655.1:c.1793C>G, XM_047447656.1:c.1454C>G, XM_047447658.1:c.1382C>G, XM_047447657.1:c.1163C>G, XM_047447659.1:c.1163C>G, XP_011531757.1:p.Pro666Arg, NP_940865.1:p.Pro415Arg, XP_005264986.1:p.Pro653Arg, XP_011531758.1:p.Pro541Arg, XP_011531761.1:p.Pro540Arg, XP_011531760.1:p.Pro541Arg, XP_011531762.1:p.Pro487Arg, NP_001338460.1:p.Pro461Arg, NP_001338459.1:p.Pro611Arg, XP_024309153.1:p.Pro666Arg, XP_011531759.1:p.Pro541Arg, NP_001338461.1:p.Pro356Arg, XP_024309154.1:p.Pro461Arg, NP_001380992.1:p.Pro666Arg, XP_047303611.1:p.Pro598Arg, XP_047303612.1:p.Pro485Arg, XP_047303614.1:p.Pro461Arg, XP_047303613.1:p.Pro388Arg, XP_047303615.1:p.Pro388Arg

                      11.

                      rs1484058723 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:58867888 (GRCh38)
                        3:58853614 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:58867887:G:T
                        Gene:
                        CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000047/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.58867888G>T, NC_000003.11:g.58853614G>T, XM_011533455.4:c.1064C>A, XM_011533455.3:c.1064C>A, XM_011533455.2:c.1064C>A, XM_011533455.1:c.1064C>A, NM_198463.4:c.689C>A, NM_198463.3:c.689C>A, NM_198463.2:c.689C>A, XR_001740051.3:n.1458C>A, XR_001740051.2:n.1478C>A, XR_001740051.1:n.1478C>A, XR_001740053.3:n.1458C>A, XR_001740053.2:n.1478C>A, XR_001740053.1:n.1478C>A, XR_001740054.3:n.1458C>A, XR_001740054.2:n.1478C>A, XR_001740054.1:n.1478C>A, XM_005264929.3:c.1025C>A, XM_005264929.2:c.1025C>A, XM_005264929.1:c.1025C>A, XR_940388.3:n.1458C>A, XR_940388.2:n.1478C>A, XR_940388.1:n.1482C>A, XM_011533456.3:c.689C>A, XM_011533456.2:c.689C>A, XM_011533456.1:c.689C>A, XR_940389.3:n.1458C>A, XR_940389.2:n.1478C>A, XR_940389.1:n.1481C>A, XM_011533459.3:c.1064C>A, XM_011533459.2:c.1064C>A, XM_011533459.1:c.1064C>A, XM_011533458.3:c.689C>A, XM_011533458.2:c.689C>A, XM_011533458.1:c.689C>A, XM_011533460.3:c.527C>A, XM_011533460.2:c.527C>A, XM_011533460.1:c.527C>A, XR_001740052.2:n.1458C>A, XR_001740052.1:n.1478C>A, NR_147234.2:n.1262C>A, NR_147234.1:n.1269C>A, NM_001351531.2:c.449C>A, NM_001351531.1:c.449C>A, NM_001351530.2:c.899C>A, NM_001351530.1:c.899C>A, XM_024453385.2:c.1064C>A, XM_024453385.1:c.1064C>A, XM_011533457.2:c.689C>A, XM_011533457.1:c.689C>A, NM_001351532.2:c.134C>A, NM_001351532.1:c.134C>A, XM_024453386.2:c.449C>A, XM_024453386.1:c.449C>A, XR_940390.2:n.1458C>A, XR_940390.1:n.1478C>A, XR_007095646.1:n.1293C>A, XR_007095648.1:n.1458C>A, NM_001394063.1:c.1064C>A, XM_047447655.1:c.860C>A, XM_047447656.1:c.899C>A, XM_047447658.1:c.449C>A, XM_047447657.1:c.230C>A, XM_047447659.1:c.230C>A, XP_011531757.1:p.Ala355Glu, NP_940865.1:p.Ala230Glu, XP_005264986.1:p.Ala342Glu, XP_011531758.1:p.Ala230Glu, XP_011531761.1:p.Ala355Glu, XP_011531760.1:p.Ala230Glu, XP_011531762.1:p.Ala176Glu, NP_001338460.1:p.Ala150Glu, NP_001338459.1:p.Ala300Glu, XP_024309153.1:p.Ala355Glu, XP_011531759.1:p.Ala230Glu, NP_001338461.1:p.Ala45Glu, XP_024309154.1:p.Ala150Glu, NP_001380992.1:p.Ala355Glu, XP_047303611.1:p.Ala287Glu, XP_047303612.1:p.Ala300Glu, XP_047303614.1:p.Ala150Glu, XP_047303613.1:p.Ala77Glu, XP_047303615.1:p.Ala77Glu

                        12.

                        rs1482343565 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          3:58849206 (GRCh38)
                          3:58834932 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:58849205:C:G
                          Gene:
                          CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000011/3 (TOPMED)
                          G=0.000021/3 (GnomAD)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000003.12:g.58849206C>G, NC_000003.11:g.58834932C>G, XM_011533455.4:c.1797G>C, XM_011533455.3:c.1797G>C, XM_011533455.2:c.1797G>C, XM_011533455.1:c.1797G>C, XR_001740051.3:n.2191G>C, XR_001740051.2:n.2211G>C, XR_001740051.1:n.2211G>C, XR_001740053.3:n.2191G>C, XR_001740053.2:n.2211G>C, XR_001740053.1:n.2211G>C, XR_001740054.3:n.2191G>C, XR_001740054.2:n.2211G>C, XR_001740054.1:n.2211G>C, XM_005264929.3:c.1758G>C, XM_005264929.2:c.1758G>C, XM_005264929.1:c.1758G>C, XR_940388.3:n.2191G>C, XR_940388.2:n.2211G>C, XR_940388.1:n.2215G>C, XM_011533456.3:c.1422G>C, XM_011533456.2:c.1422G>C, XM_011533456.1:c.1422G>C, XR_940389.3:n.2191G>C, XR_940389.2:n.2211G>C, XR_940389.1:n.2214G>C, XM_011533458.3:c.1422G>C, XM_011533458.2:c.1422G>C, XM_011533458.1:c.1422G>C, XM_011533460.3:c.1260G>C, XM_011533460.2:c.1260G>C, XM_011533460.1:c.1260G>C, XR_001740052.2:n.2191G>C, XR_001740052.1:n.2211G>C, NM_001351531.2:c.1182G>C, NM_001351531.1:c.1182G>C, NM_001351530.2:c.1632G>C, NM_001351530.1:c.1632G>C, XM_024453385.2:c.1797G>C, XM_024453385.1:c.1797G>C, XM_011533457.2:c.1422G>C, XM_011533457.1:c.1422G>C, NM_001351532.2:c.867G>C, NM_001351532.1:c.867G>C, XM_024453386.2:c.1182G>C, XM_024453386.1:c.1182G>C, XR_007095646.1:n.2026G>C, NM_001394063.1:c.1797G>C, XM_047447655.1:c.1593G>C, XM_047447658.1:c.1182G>C, XM_047447657.1:c.963G>C, XM_047447659.1:c.963G>C, XP_011531757.1:p.Leu599Phe, XP_005264986.1:p.Leu586Phe, XP_011531758.1:p.Leu474Phe, XP_011531760.1:p.Leu474Phe, XP_011531762.1:p.Leu420Phe, NP_001338460.1:p.Leu394Phe, NP_001338459.1:p.Leu544Phe, XP_024309153.1:p.Leu599Phe, XP_011531759.1:p.Leu474Phe, NP_001338461.1:p.Leu289Phe, XP_024309154.1:p.Leu394Phe, NP_001380992.1:p.Leu599Phe, XP_047303611.1:p.Leu531Phe, XP_047303614.1:p.Leu394Phe, XP_047303613.1:p.Leu321Phe, XP_047303615.1:p.Leu321Phe

                          13.

                          rs1481838700 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:58870178 (GRCh38)
                            3:58855904 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:58870177:T:C
                            Gene:
                            CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.58870178T>C, NC_000003.11:g.58855904T>C, XM_011533455.4:c.847A>G, XM_011533455.3:c.847A>G, XM_011533455.2:c.847A>G, XM_011533455.1:c.847A>G, NM_198463.4:c.472A>G, NM_198463.3:c.472A>G, NM_198463.2:c.472A>G, XR_001740051.3:n.1241A>G, XR_001740051.2:n.1261A>G, XR_001740051.1:n.1261A>G, XR_001740053.3:n.1241A>G, XR_001740053.2:n.1261A>G, XR_001740053.1:n.1261A>G, XR_001740054.3:n.1241A>G, XR_001740054.2:n.1261A>G, XR_001740054.1:n.1261A>G, XM_005264929.3:c.847A>G, XM_005264929.2:c.847A>G, XM_005264929.1:c.847A>G, XR_940388.3:n.1241A>G, XR_940388.2:n.1261A>G, XR_940388.1:n.1265A>G, XM_011533456.3:c.472A>G, XM_011533456.2:c.472A>G, XM_011533456.1:c.472A>G, XR_940389.3:n.1241A>G, XR_940389.2:n.1261A>G, XR_940389.1:n.1264A>G, XM_011533459.3:c.847A>G, XM_011533459.2:c.847A>G, XM_011533459.1:c.847A>G, XM_011533458.3:c.472A>G, XM_011533458.2:c.472A>G, XM_011533458.1:c.472A>G, XM_011533460.3:c.310A>G, XM_011533460.2:c.310A>G, XM_011533460.1:c.310A>G, XR_001740052.2:n.1241A>G, XR_001740052.1:n.1261A>G, NR_147234.2:n.1084A>G, NR_147234.1:n.1091A>G, NM_001351531.2:c.232A>G, NM_001351531.1:c.232A>G, NM_001351530.2:c.682A>G, NM_001351530.1:c.682A>G, XM_024453385.2:c.847A>G, XM_024453385.1:c.847A>G, XM_011533457.2:c.472A>G, XM_011533457.1:c.472A>G, NM_001351532.2:c.-95A>G, NM_001351532.1:c.-95A>G, XM_024453386.2:c.232A>G, XM_024453386.1:c.232A>G, XR_940390.2:n.1241A>G, XR_940390.1:n.1261A>G, XR_007095646.1:n.1076A>G, XR_007095648.1:n.1241A>G, NM_001394063.1:c.847A>G, XM_047447655.1:c.682A>G, XM_047447656.1:c.682A>G, XM_047447658.1:c.232A>G, XM_047447657.1:c.13A>G, XM_047447659.1:c.13A>G, XP_011531757.1:p.Ser283Gly, NP_940865.1:p.Ser158Gly, XP_005264986.1:p.Ser283Gly, XP_011531758.1:p.Ser158Gly, XP_011531761.1:p.Ser283Gly, XP_011531760.1:p.Ser158Gly, XP_011531762.1:p.Ser104Gly, NP_001338460.1:p.Ser78Gly, NP_001338459.1:p.Ser228Gly, XP_024309153.1:p.Ser283Gly, XP_011531759.1:p.Ser158Gly, XP_024309154.1:p.Ser78Gly, NP_001380992.1:p.Ser283Gly, XP_047303611.1:p.Ser228Gly, XP_047303612.1:p.Ser228Gly, XP_047303614.1:p.Ser78Gly, XP_047303613.1:p.Ser5Gly, XP_047303615.1:p.Ser5Gly

                            14.

                            rs1481305634 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              3:58937727 (GRCh38)
                              3:58923453 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:58937726:T:A,NC_000003.12:58937726:T:C
                              Gene:
                              CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000003.12:g.58937727T>A, NC_000003.12:g.58937727T>C, NC_000003.11:g.58923453T>A, NC_000003.11:g.58923453T>C, XM_011533455.4:c.314A>T, XM_011533455.4:c.314A>G, XM_011533455.3:c.314A>T, XM_011533455.3:c.314A>G, XM_011533455.2:c.314A>T, XM_011533455.2:c.314A>G, XM_011533455.1:c.314A>T, XM_011533455.1:c.314A>G, NM_198463.4:c.-62A>T, NM_198463.4:c.-62A>G, NM_198463.3:c.-62A>T, NM_198463.3:c.-62A>G, NM_198463.2:c.-62A>T, NM_198463.2:c.-62A>G, XR_001740051.3:n.708A>T, XR_001740051.3:n.708A>G, XR_001740051.2:n.728A>T, XR_001740051.2:n.728A>G, XR_001740051.1:n.728A>T, XR_001740051.1:n.728A>G, XR_001740053.3:n.708A>T, XR_001740053.3:n.708A>G, XR_001740053.2:n.728A>T, XR_001740053.2:n.728A>G, XR_001740053.1:n.728A>T, XR_001740053.1:n.728A>G, XR_001740054.3:n.708A>T, XR_001740054.3:n.708A>G, XR_001740054.2:n.728A>T, XR_001740054.2:n.728A>G, XR_001740054.1:n.728A>T, XR_001740054.1:n.728A>G, XM_005264929.3:c.314A>T, XM_005264929.3:c.314A>G, XM_005264929.2:c.314A>T, XM_005264929.2:c.314A>G, XM_005264929.1:c.314A>T, XM_005264929.1:c.314A>G, XR_940388.3:n.708A>T, XR_940388.3:n.708A>G, XR_940388.2:n.728A>T, XR_940388.2:n.728A>G, XR_940388.1:n.732A>T, XR_940388.1:n.732A>G, XM_011533456.3:c.-62A>T, XM_011533456.3:c.-62A>G, XM_011533456.2:c.-62A>T, XM_011533456.2:c.-62A>G, XM_011533456.1:c.-62A>T, XM_011533456.1:c.-62A>G, XR_940389.3:n.708A>T, XR_940389.3:n.708A>G, XR_940389.2:n.728A>T, XR_940389.2:n.728A>G, XR_940389.1:n.731A>T, XR_940389.1:n.731A>G, XM_011533459.3:c.314A>T, XM_011533459.3:c.314A>G, XM_011533459.2:c.314A>T, XM_011533459.2:c.314A>G, XM_011533459.1:c.314A>T, XM_011533459.1:c.314A>G, XM_011533458.3:c.-62A>T, XM_011533458.3:c.-62A>G, XM_011533458.2:c.-62A>T, XM_011533458.2:c.-62A>G, XM_011533458.1:c.-62A>T, XM_011533458.1:c.-62A>G, XR_001740052.2:n.708A>T, XR_001740052.2:n.708A>G, XR_001740052.1:n.728A>T, XR_001740052.1:n.728A>G, NR_147234.2:n.708A>T, NR_147234.2:n.708A>G, NR_147234.1:n.715A>T, NR_147234.1:n.715A>G, NM_001351533.2:c.314A>T, NM_001351533.2:c.314A>G, NM_001351533.1:c.314A>T, NM_001351533.1:c.314A>G, NM_001351531.2:c.-145A>T, NM_001351531.2:c.-145A>G, NM_001351531.1:c.-145A>T, NM_001351531.1:c.-145A>G, NM_001351530.2:c.314A>T, NM_001351530.2:c.314A>G, NM_001351530.1:c.314A>T, NM_001351530.1:c.314A>G, XM_024453385.2:c.314A>T, XM_024453385.2:c.314A>G, XM_024453385.1:c.314A>T, XM_024453385.1:c.314A>G, XM_011533457.2:c.-62A>T, XM_011533457.2:c.-62A>G, XM_011533457.1:c.-62A>T, XM_011533457.1:c.-62A>G, NM_001351532.2:c.-638A>T, NM_001351532.2:c.-638A>G, NM_001351532.1:c.-638A>T, NM_001351532.1:c.-638A>G, XR_940390.2:n.708A>T, XR_940390.2:n.708A>G, XR_940390.1:n.728A>T, XR_940390.1:n.728A>G, NM_001351534.2:c.314A>T, NM_001351534.2:c.314A>G, NM_001351534.1:c.314A>T, NM_001351534.1:c.314A>G, NR_147235.2:n.492A>T, NR_147235.2:n.492A>G, NR_147235.1:n.499A>T, NR_147235.1:n.499A>G, XR_007095646.1:n.708A>T, XR_007095646.1:n.708A>G, XR_007095648.1:n.708A>T, XR_007095648.1:n.708A>G, NM_001394063.1:c.314A>T, NM_001394063.1:c.314A>G, XM_047447655.1:c.314A>T, XM_047447655.1:c.314A>G, XM_047447656.1:c.314A>T, XM_047447656.1:c.314A>G, XM_047447658.1:c.-145A>T, XM_047447658.1:c.-145A>G, XP_011531757.1:p.Tyr105Phe, XP_011531757.1:p.Tyr105Cys, XP_005264986.1:p.Tyr105Phe, XP_005264986.1:p.Tyr105Cys, XP_011531761.1:p.Tyr105Phe, XP_011531761.1:p.Tyr105Cys, NP_001338462.1:p.Tyr105Phe, NP_001338462.1:p.Tyr105Cys, NP_001338459.1:p.Tyr105Phe, NP_001338459.1:p.Tyr105Cys, XP_024309153.1:p.Tyr105Phe, XP_024309153.1:p.Tyr105Cys, NP_001338463.1:p.Tyr105Phe, NP_001338463.1:p.Tyr105Cys, NP_001380992.1:p.Tyr105Phe, NP_001380992.1:p.Tyr105Cys, XP_047303611.1:p.Tyr105Phe, XP_047303611.1:p.Tyr105Cys, XP_047303612.1:p.Tyr105Phe, XP_047303612.1:p.Tyr105Cys

                              15.

                              rs1480976304 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:59046289 (GRCh38)
                                3:59032015 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:59046288:C:T
                                Gene:
                                CFAP20DC (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000015/2 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.59046289C>T, NC_000003.11:g.59032015C>T, XM_011533455.4:c.145G>A, XM_011533455.3:c.145G>A, XM_011533455.2:c.145G>A, XM_011533455.1:c.145G>A, NM_198463.4:c.-231G>A, NM_198463.3:c.-231G>A, NM_198463.2:c.-231G>A, XR_001740051.3:n.539G>A, XR_001740051.2:n.559G>A, XR_001740051.1:n.559G>A, XR_001740053.3:n.539G>A, XR_001740053.2:n.559G>A, XR_001740053.1:n.559G>A, XR_001740054.3:n.539G>A, XR_001740054.2:n.559G>A, XR_001740054.1:n.559G>A, XM_005264929.3:c.145G>A, XM_005264929.2:c.145G>A, XM_005264929.1:c.145G>A, XR_940388.3:n.539G>A, XR_940388.2:n.559G>A, XR_940388.1:n.563G>A, XM_011533456.3:c.-231G>A, XM_011533456.2:c.-231G>A, XM_011533456.1:c.-231G>A, XR_940389.3:n.539G>A, XR_940389.2:n.559G>A, XR_940389.1:n.562G>A, XM_011533459.3:c.145G>A, XM_011533459.2:c.145G>A, XM_011533459.1:c.145G>A, XM_011533458.3:c.-158G>A, XM_011533458.2:c.-158G>A, XM_011533458.1:c.-158G>A, XR_001740052.2:n.539G>A, XR_001740052.1:n.559G>A, NR_147234.2:n.539G>A, NR_147234.1:n.546G>A, NM_001351533.2:c.145G>A, NM_001351533.1:c.145G>A, NM_001351531.2:c.-314G>A, NM_001351531.1:c.-314G>A, NM_001351530.2:c.145G>A, NM_001351530.1:c.145G>A, XM_024453385.2:c.145G>A, XM_024453385.1:c.145G>A, NM_001351532.2:c.-807G>A, NM_001351532.1:c.-807G>A, XR_940390.2:n.539G>A, XR_940390.1:n.559G>A, NM_001351534.2:c.145G>A, NM_001351534.1:c.145G>A, NR_147235.2:n.215G>A, NR_147235.1:n.222G>A, XR_007095646.1:n.539G>A, XR_007095648.1:n.539G>A, NM_001394063.1:c.145G>A, XM_047447655.1:c.145G>A, XM_047447656.1:c.145G>A, XP_011531757.1:p.Val49Ile, XP_005264986.1:p.Val49Ile, XP_011531761.1:p.Val49Ile, NP_001338462.1:p.Val49Ile, NP_001338459.1:p.Val49Ile, XP_024309153.1:p.Val49Ile, NP_001338463.1:p.Val49Ile, NP_001380992.1:p.Val49Ile, XP_047303611.1:p.Val49Ile, XP_047303612.1:p.Val49Ile

                                16.

                                rs1480313604 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:58937672 (GRCh38)
                                  3:58923398 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:58937671:T:C
                                  Gene:
                                  CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.58937672T>C, NC_000003.11:g.58923398T>C, XM_011533455.4:c.369A>G, XM_011533455.3:c.369A>G, XM_011533455.2:c.369A>G, XM_011533455.1:c.369A>G, NM_198463.4:c.-7A>G, NM_198463.3:c.-7A>G, NM_198463.2:c.-7A>G, XR_001740051.3:n.763A>G, XR_001740051.2:n.783A>G, XR_001740051.1:n.783A>G, XR_001740053.3:n.763A>G, XR_001740053.2:n.783A>G, XR_001740053.1:n.783A>G, XR_001740054.3:n.763A>G, XR_001740054.2:n.783A>G, XR_001740054.1:n.783A>G, XM_005264929.3:c.369A>G, XM_005264929.2:c.369A>G, XM_005264929.1:c.369A>G, XR_940388.3:n.763A>G, XR_940388.2:n.783A>G, XR_940388.1:n.787A>G, XM_011533456.3:c.-7A>G, XM_011533456.2:c.-7A>G, XM_011533456.1:c.-7A>G, XR_940389.3:n.763A>G, XR_940389.2:n.783A>G, XR_940389.1:n.786A>G, XM_011533459.3:c.369A>G, XM_011533459.2:c.369A>G, XM_011533459.1:c.369A>G, XM_011533458.3:c.-7A>G, XM_011533458.2:c.-7A>G, XM_011533458.1:c.-7A>G, XR_001740052.2:n.763A>G, XR_001740052.1:n.783A>G, NR_147234.2:n.763A>G, NR_147234.1:n.770A>G, NM_001351533.2:c.369A>G, NM_001351533.1:c.369A>G, NM_001351531.2:c.-90A>G, NM_001351531.1:c.-90A>G, NM_001351530.2:c.369A>G, NM_001351530.1:c.369A>G, XM_024453385.2:c.369A>G, XM_024453385.1:c.369A>G, XM_011533457.2:c.-7A>G, XM_011533457.1:c.-7A>G, NM_001351532.2:c.-583A>G, NM_001351532.1:c.-583A>G, XR_940390.2:n.763A>G, XR_940390.1:n.783A>G, NM_001351534.2:c.369A>G, NM_001351534.1:c.369A>G, NR_147235.2:n.547A>G, NR_147235.1:n.554A>G, XR_007095646.1:n.763A>G, XR_007095648.1:n.763A>G, NM_001394063.1:c.369A>G, XM_047447655.1:c.369A>G, XM_047447656.1:c.369A>G, XM_047447658.1:c.-90A>G

                                  17.

                                  rs1480311425 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    3:59047174 (GRCh38)
                                    3:59032900 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:59047173:C:A,NC_000003.12:59047173:C:T
                                    Gene:
                                    CFAP20DC (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.59047174C>A, NC_000003.12:g.59047174C>T, NC_000003.11:g.59032900C>A, NC_000003.11:g.59032900C>T, XM_011533455.4:c.102G>T, XM_011533455.4:c.102G>A, XM_011533455.3:c.102G>T, XM_011533455.3:c.102G>A, XM_011533455.2:c.102G>T, XM_011533455.2:c.102G>A, XM_011533455.1:c.102G>T, XM_011533455.1:c.102G>A, NM_198463.4:c.-274G>T, NM_198463.4:c.-274G>A, NM_198463.3:c.-274G>T, NM_198463.3:c.-274G>A, NM_198463.2:c.-274G>T, NM_198463.2:c.-274G>A, XR_001740051.3:n.496G>T, XR_001740051.3:n.496G>A, XR_001740051.2:n.516G>T, XR_001740051.2:n.516G>A, XR_001740051.1:n.516G>T, XR_001740051.1:n.516G>A, XR_001740053.3:n.496G>T, XR_001740053.3:n.496G>A, XR_001740053.2:n.516G>T, XR_001740053.2:n.516G>A, XR_001740053.1:n.516G>T, XR_001740053.1:n.516G>A, XR_001740054.3:n.496G>T, XR_001740054.3:n.496G>A, XR_001740054.2:n.516G>T, XR_001740054.2:n.516G>A, XR_001740054.1:n.516G>T, XR_001740054.1:n.516G>A, XM_005264929.3:c.102G>T, XM_005264929.3:c.102G>A, XM_005264929.2:c.102G>T, XM_005264929.2:c.102G>A, XM_005264929.1:c.102G>T, XM_005264929.1:c.102G>A, XR_940388.3:n.496G>T, XR_940388.3:n.496G>A, XR_940388.2:n.516G>T, XR_940388.2:n.516G>A, XR_940388.1:n.520G>T, XR_940388.1:n.520G>A, XM_011533456.3:c.-274G>T, XM_011533456.3:c.-274G>A, XM_011533456.2:c.-274G>T, XM_011533456.2:c.-274G>A, XM_011533456.1:c.-274G>T, XM_011533456.1:c.-274G>A, XR_940389.3:n.496G>T, XR_940389.3:n.496G>A, XR_940389.2:n.516G>T, XR_940389.2:n.516G>A, XR_940389.1:n.519G>T, XR_940389.1:n.519G>A, XM_011533459.3:c.102G>T, XM_011533459.3:c.102G>A, XM_011533459.2:c.102G>T, XM_011533459.2:c.102G>A, XM_011533459.1:c.102G>T, XM_011533459.1:c.102G>A, XR_001740052.2:n.496G>T, XR_001740052.2:n.496G>A, XR_001740052.1:n.516G>T, XR_001740052.1:n.516G>A, NR_147234.2:n.496G>T, NR_147234.2:n.496G>A, NR_147234.1:n.503G>T, NR_147234.1:n.503G>A, NM_001351533.2:c.102G>T, NM_001351533.2:c.102G>A, NM_001351533.1:c.102G>T, NM_001351533.1:c.102G>A, NM_001351531.2:c.-357G>T, NM_001351531.2:c.-357G>A, NM_001351531.1:c.-357G>T, NM_001351531.1:c.-357G>A, NM_001351530.2:c.102G>T, NM_001351530.2:c.102G>A, NM_001351530.1:c.102G>T, NM_001351530.1:c.102G>A, XM_024453385.2:c.102G>T, XM_024453385.2:c.102G>A, XM_024453385.1:c.102G>T, XM_024453385.1:c.102G>A, NM_001351532.2:c.-850G>T, NM_001351532.2:c.-850G>A, NM_001351532.1:c.-850G>T, NM_001351532.1:c.-850G>A, XR_940390.2:n.496G>T, XR_940390.2:n.496G>A, XR_940390.1:n.516G>T, XR_940390.1:n.516G>A, NM_001351534.2:c.102G>T, NM_001351534.2:c.102G>A, NM_001351534.1:c.102G>T, NM_001351534.1:c.102G>A, NR_147235.2:n.172G>T, NR_147235.2:n.172G>A, NR_147235.1:n.179G>T, NR_147235.1:n.179G>A, XR_007095646.1:n.496G>T, XR_007095646.1:n.496G>A, XR_007095648.1:n.496G>T, XR_007095648.1:n.496G>A, NM_001394063.1:c.102G>T, NM_001394063.1:c.102G>A, XM_047447655.1:c.102G>T, XM_047447655.1:c.102G>A, XM_047447656.1:c.102G>T, XM_047447656.1:c.102G>A

                                    18.

                                    rs1479840684 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      3:59047185 (GRCh38)
                                      3:59032911 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:59047184:T:A
                                      Gene:
                                      CFAP20DC (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.59047185T>A, NC_000003.11:g.59032911T>A, XM_011533455.4:c.91A>T, XM_011533455.3:c.91A>T, XM_011533455.2:c.91A>T, XM_011533455.1:c.91A>T, NM_198463.4:c.-285A>T, NM_198463.3:c.-285A>T, NM_198463.2:c.-285A>T, XR_001740051.3:n.485A>T, XR_001740051.2:n.505A>T, XR_001740051.1:n.505A>T, XR_001740053.3:n.485A>T, XR_001740053.2:n.505A>T, XR_001740053.1:n.505A>T, XR_001740054.3:n.485A>T, XR_001740054.2:n.505A>T, XR_001740054.1:n.505A>T, XM_005264929.3:c.91A>T, XM_005264929.2:c.91A>T, XM_005264929.1:c.91A>T, XR_940388.3:n.485A>T, XR_940388.2:n.505A>T, XR_940388.1:n.509A>T, XM_011533456.3:c.-285A>T, XM_011533456.2:c.-285A>T, XM_011533456.1:c.-285A>T, XR_940389.3:n.485A>T, XR_940389.2:n.505A>T, XR_940389.1:n.508A>T, XM_011533459.3:c.91A>T, XM_011533459.2:c.91A>T, XM_011533459.1:c.91A>T, XR_001740052.2:n.485A>T, XR_001740052.1:n.505A>T, NR_147234.2:n.485A>T, NR_147234.1:n.492A>T, NM_001351533.2:c.91A>T, NM_001351533.1:c.91A>T, NM_001351531.2:c.-368A>T, NM_001351531.1:c.-368A>T, NM_001351530.2:c.91A>T, NM_001351530.1:c.91A>T, XM_024453385.2:c.91A>T, XM_024453385.1:c.91A>T, NM_001351532.2:c.-861A>T, NM_001351532.1:c.-861A>T, XR_940390.2:n.485A>T, XR_940390.1:n.505A>T, NM_001351534.2:c.91A>T, NM_001351534.1:c.91A>T, NR_147235.2:n.161A>T, NR_147235.1:n.168A>T, XR_007095646.1:n.485A>T, XR_007095648.1:n.485A>T, NM_001394063.1:c.91A>T, XM_047447655.1:c.91A>T, XM_047447656.1:c.91A>T, XP_011531757.1:p.Ser31Cys, XP_005264986.1:p.Ser31Cys, XP_011531761.1:p.Ser31Cys, NP_001338462.1:p.Ser31Cys, NP_001338459.1:p.Ser31Cys, XP_024309153.1:p.Ser31Cys, NP_001338463.1:p.Ser31Cys, NP_001380992.1:p.Ser31Cys, XP_047303611.1:p.Ser31Cys, XP_047303612.1:p.Ser31Cys

                                      19.

                                      rs1479579126 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:58849168 (GRCh38)
                                        3:58834894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:58849167:C:T
                                        Gene:
                                        CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0./0 (GnomAD)
                                        T=0.000015/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.58849168C>T, NC_000003.11:g.58834894C>T, XM_011533455.4:c.1835G>A, XM_011533455.3:c.1835G>A, XM_011533455.2:c.1835G>A, XM_011533455.1:c.1835G>A, XR_001740051.3:n.2229G>A, XR_001740051.2:n.2249G>A, XR_001740051.1:n.2249G>A, XR_001740053.3:n.2229G>A, XR_001740053.2:n.2249G>A, XR_001740053.1:n.2249G>A, XR_001740054.3:n.2229G>A, XR_001740054.2:n.2249G>A, XR_001740054.1:n.2249G>A, XM_005264929.3:c.1796G>A, XM_005264929.2:c.1796G>A, XM_005264929.1:c.1796G>A, XR_940388.3:n.2229G>A, XR_940388.2:n.2249G>A, XR_940388.1:n.2253G>A, XM_011533456.3:c.1460G>A, XM_011533456.2:c.1460G>A, XM_011533456.1:c.1460G>A, XR_940389.3:n.2229G>A, XR_940389.2:n.2249G>A, XR_940389.1:n.2252G>A, XM_011533458.3:c.1460G>A, XM_011533458.2:c.1460G>A, XM_011533458.1:c.1460G>A, XM_011533460.3:c.1298G>A, XM_011533460.2:c.1298G>A, XM_011533460.1:c.1298G>A, XR_001740052.2:n.2229G>A, XR_001740052.1:n.2249G>A, NM_001351531.2:c.1220G>A, NM_001351531.1:c.1220G>A, NM_001351530.2:c.1670G>A, NM_001351530.1:c.1670G>A, XM_024453385.2:c.1835G>A, XM_024453385.1:c.1835G>A, XM_011533457.2:c.1460G>A, XM_011533457.1:c.1460G>A, NM_001351532.2:c.905G>A, NM_001351532.1:c.905G>A, XM_024453386.2:c.1220G>A, XM_024453386.1:c.1220G>A, XR_007095646.1:n.2064G>A, NM_001394063.1:c.1835G>A, XM_047447655.1:c.1631G>A, XM_047447658.1:c.1220G>A, XM_047447657.1:c.1001G>A, XM_047447659.1:c.1001G>A, XP_011531757.1:p.Cys612Tyr, XP_005264986.1:p.Cys599Tyr, XP_011531758.1:p.Cys487Tyr, XP_011531760.1:p.Cys487Tyr, XP_011531762.1:p.Cys433Tyr, NP_001338460.1:p.Cys407Tyr, NP_001338459.1:p.Cys557Tyr, XP_024309153.1:p.Cys612Tyr, XP_011531759.1:p.Cys487Tyr, NP_001338461.1:p.Cys302Tyr, XP_024309154.1:p.Cys407Tyr, NP_001380992.1:p.Cys612Tyr, XP_047303611.1:p.Cys544Tyr, XP_047303614.1:p.Cys407Tyr, XP_047303613.1:p.Cys334Tyr, XP_047303615.1:p.Cys334Tyr

                                        20.

                                        rs1477902571 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:58863846 (GRCh38)
                                          3:58849572 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:58863845:T:C
                                          Gene:
                                          CFAP20DC (Varview), CFAP20DC-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.0002/1 (ALFA)
                                          C=0.0002/1 (Estonian)
                                          HGVS:
                                          NC_000003.12:g.58863846T>C, NC_000003.11:g.58849572T>C, XM_011533455.4:c.1305A>G, XM_011533455.3:c.1305A>G, XM_011533455.2:c.1305A>G, XM_011533455.1:c.1305A>G, NM_198463.4:c.930A>G, NM_198463.3:c.930A>G, NM_198463.2:c.930A>G, XR_001740051.3:n.1699A>G, XR_001740051.2:n.1719A>G, XR_001740051.1:n.1719A>G, XR_001740053.3:n.1699A>G, XR_001740053.2:n.1719A>G, XR_001740053.1:n.1719A>G, XR_001740054.3:n.1699A>G, XR_001740054.2:n.1719A>G, XR_001740054.1:n.1719A>G, XM_005264929.3:c.1266A>G, XM_005264929.2:c.1266A>G, XM_005264929.1:c.1266A>G, XR_940388.3:n.1699A>G, XR_940388.2:n.1719A>G, XR_940388.1:n.1723A>G, XM_011533456.3:c.930A>G, XM_011533456.2:c.930A>G, XM_011533456.1:c.930A>G, XR_940389.3:n.1699A>G, XR_940389.2:n.1719A>G, XR_940389.1:n.1722A>G, XM_011533459.3:c.1305A>G, XM_011533459.2:c.1305A>G, XM_011533459.1:c.1305A>G, XM_011533458.3:c.930A>G, XM_011533458.2:c.930A>G, XM_011533458.1:c.930A>G, XM_011533460.3:c.768A>G, XM_011533460.2:c.768A>G, XM_011533460.1:c.768A>G, XR_001740052.2:n.1699A>G, XR_001740052.1:n.1719A>G, NR_147234.2:n.1503A>G, NR_147234.1:n.1510A>G, NM_001351531.2:c.690A>G, NM_001351531.1:c.690A>G, NM_001351530.2:c.1140A>G, NM_001351530.1:c.1140A>G, XM_024453385.2:c.1305A>G, XM_024453385.1:c.1305A>G, XM_011533457.2:c.930A>G, XM_011533457.1:c.930A>G, NM_001351532.2:c.375A>G, NM_001351532.1:c.375A>G, XM_024453386.2:c.690A>G, XM_024453386.1:c.690A>G, XR_007095646.1:n.1534A>G, XR_007095648.1:n.1699A>G, NM_001394063.1:c.1305A>G, XM_047447655.1:c.1101A>G, XM_047447656.1:c.1140A>G, XM_047447658.1:c.690A>G, XM_047447657.1:c.471A>G, XM_047447659.1:c.471A>G

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