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    Items: 1 to 20 of 304

    1.

    rs1487941970 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:137555245 (GRCh38)
      9:140449697 (GRCh37)
      Canonical SPDI:
      NC_000009.12:137555244:C:T
      Gene:
      DPH7 (Varview), LOC124902317 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000015/4 (TOPMED)
      HGVS:
      NC_000009.12:g.137555245C>T, NC_000009.11:g.140449697C>T, NG_051807.1:g.28691G>A, NM_138778.5:c.1353G>A, NM_138778.4:c.1353G>A, NM_138778.3:c.1353G>A, NM_138778.2:c.1353G>A, NM_001346386.2:c.825G>A, NM_001346386.1:c.825G>A, NM_001346393.2:c.759G>A, NM_001346393.1:c.759G>A, NM_001346392.2:c.825G>A, NM_001346392.1:c.825G>A, NM_001346372.2:c.*1597G>A, NM_001346372.1:c.*1597G>A, NM_001346371.2:c.*1509G>A, NM_001346371.1:c.*1509G>A, NM_001346374.2:c.*1597G>A, NM_001346374.1:c.*1597G>A, NM_001346396.2:c.759G>A, NM_001346396.1:c.759G>A, NM_001346390.2:c.825G>A, NM_001346390.1:c.825G>A, NM_001346381.2:c.825G>A, NM_001346381.1:c.825G>A, NM_001346391.2:c.825G>A, NM_001346391.1:c.825G>A, NM_001346376.2:c.825G>A, NM_001346376.1:c.825G>A, NM_001346394.2:c.759G>A, NM_001346394.1:c.759G>A, NM_001346395.2:c.759G>A, NM_001346395.1:c.759G>A, NM_001346382.2:c.825G>A, NM_001346382.1:c.825G>A, NM_001346383.2:c.825G>A, NM_001346383.1:c.825G>A, NM_001346379.2:c.825G>A, NM_001346379.1:c.825G>A, NM_001346380.2:c.825G>A, NM_001346380.1:c.825G>A, NM_001346375.2:c.825G>A, NM_001346375.1:c.825G>A, NM_001346385.2:c.825G>A, NM_001346385.1:c.825G>A, NM_001346389.2:c.825G>A, NM_001346389.1:c.825G>A, NM_001346378.2:c.825G>A, NM_001346378.1:c.825G>A, NM_001346377.2:c.825G>A, NM_001346377.1:c.825G>A, NM_001346388.2:c.825G>A, NM_001346388.1:c.825G>A, NM_001346387.2:c.825G>A, NM_001346387.1:c.825G>A, NM_001346370.2:c.1287G>A, NM_001346370.1:c.1287G>A, NM_001346384.2:c.825G>A, NM_001346384.1:c.825G>A, NM_001346373.2:c.951G>A, NM_001346373.1:c.951G>A

      2.

      rs1483718644 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->AAAAA [Show Flanks]
        Chromosome:
        9:137555324 (GRCh38)
        9:140449777 (GRCh37)
        Canonical SPDI:
        NC_000009.12:137555324::AAAAA
        Gene:
        DPH7 (Varview), LOC124902317 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
        Validated:
        by frequency,by alfa
        MAF:
        AAAAA=0.0001/1 (ALFA)
        HGVS:
        NC_000009.12:g.137555324_137555325insAAAAA, NC_000009.11:g.140449776_140449777insAAAAA, NG_051807.1:g.28611_28612insTTTTT, NM_138778.5:c.1273_1274insTTTTT, NM_138778.4:c.1273_1274insTTTTT, NM_138778.3:c.1273_1274insTTTTT, NM_138778.2:c.1273_1274insTTTTT, NM_001346386.2:c.745_746insTTTTT, NM_001346386.1:c.745_746insTTTTT, NM_001346393.2:c.679_680insTTTTT, NM_001346393.1:c.679_680insTTTTT, NM_001346392.2:c.745_746insTTTTT, NM_001346392.1:c.745_746insTTTTT, NM_001346372.2:c.*1517_*1518insTTTTT, NM_001346372.1:c.*1517_*1518insTTTTT, NM_001346371.2:c.*1429_*1430insTTTTT, NM_001346371.1:c.*1429_*1430insTTTTT, NM_001346374.2:c.*1517_*1518insTTTTT, NM_001346374.1:c.*1517_*1518insTTTTT, NM_001346396.2:c.679_680insTTTTT, NM_001346396.1:c.679_680insTTTTT, NM_001346390.2:c.745_746insTTTTT, NM_001346390.1:c.745_746insTTTTT, NM_001346381.2:c.745_746insTTTTT, NM_001346381.1:c.745_746insTTTTT, NM_001346391.2:c.745_746insTTTTT, NM_001346391.1:c.745_746insTTTTT, NM_001346376.2:c.745_746insTTTTT, NM_001346376.1:c.745_746insTTTTT, NM_001346394.2:c.679_680insTTTTT, NM_001346394.1:c.679_680insTTTTT, NM_001346395.2:c.679_680insTTTTT, NM_001346395.1:c.679_680insTTTTT, NM_001346382.2:c.745_746insTTTTT, NM_001346382.1:c.745_746insTTTTT, NM_001346383.2:c.745_746insTTTTT, NM_001346383.1:c.745_746insTTTTT, NM_001346379.2:c.745_746insTTTTT, NM_001346379.1:c.745_746insTTTTT, NM_001346380.2:c.745_746insTTTTT, NM_001346380.1:c.745_746insTTTTT, NM_001346375.2:c.745_746insTTTTT, NM_001346375.1:c.745_746insTTTTT, NM_001346385.2:c.745_746insTTTTT, NM_001346385.1:c.745_746insTTTTT, NM_001346389.2:c.745_746insTTTTT, NM_001346389.1:c.745_746insTTTTT, NM_001346378.2:c.745_746insTTTTT, NM_001346378.1:c.745_746insTTTTT, NM_001346377.2:c.745_746insTTTTT, NM_001346377.1:c.745_746insTTTTT, NM_001346388.2:c.745_746insTTTTT, NM_001346388.1:c.745_746insTTTTT, NM_001346387.2:c.745_746insTTTTT, NM_001346387.1:c.745_746insTTTTT, NM_001346370.2:c.1207_1208insTTTTT, NM_001346370.1:c.1207_1208insTTTTT, NM_001346384.2:c.745_746insTTTTT, NM_001346384.1:c.745_746insTTTTT, NM_001346373.2:c.871_872insTTTTT, NM_001346373.1:c.871_872insTTTTT, NP_620133.1:p.Glu425fs, NP_001333315.1:p.Glu249fs, NP_001333322.1:p.Glu227fs, NP_001333321.1:p.Glu249fs, NP_001333325.1:p.Glu227fs, NP_001333319.1:p.Glu249fs, NP_001333310.1:p.Glu249fs, NP_001333320.1:p.Glu249fs, NP_001333305.1:p.Glu249fs, NP_001333323.1:p.Glu227fs, NP_001333324.1:p.Glu227fs, NP_001333311.1:p.Glu249fs, NP_001333312.1:p.Glu249fs, NP_001333308.1:p.Glu249fs, NP_001333309.1:p.Glu249fs, NP_001333304.1:p.Glu249fs, NP_001333314.1:p.Glu249fs, NP_001333318.1:p.Glu249fs, NP_001333307.1:p.Glu249fs, NP_001333306.1:p.Glu249fs, NP_001333317.1:p.Glu249fs, NP_001333316.1:p.Glu249fs, NP_001333299.1:p.Glu403fs, NP_001333313.1:p.Glu249fs, NP_001333302.1:p.Glu291fs

        3.

        rs1474618688 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:137555640 (GRCh38)
          9:140450092 (GRCh37)
          Canonical SPDI:
          NC_000009.12:137555639:G:A
          Gene:
          DPH7 (Varview), LOC124902317 (Varview)
          Functional Consequence:
          coding_sequence_variant,3_prime_UTR_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.137555640G>A, NC_000009.11:g.140450092G>A, NG_051807.1:g.28296C>T, NM_138778.5:c.958C>T, NM_138778.4:c.958C>T, NM_138778.3:c.958C>T, NM_138778.2:c.958C>T, NM_001346386.2:c.430C>T, NM_001346386.1:c.430C>T, NM_001346393.2:c.364C>T, NM_001346393.1:c.364C>T, NM_001346392.2:c.430C>T, NM_001346392.1:c.430C>T, NM_001346372.2:c.*1202C>T, NM_001346372.1:c.*1202C>T, NM_001346371.2:c.*1114C>T, NM_001346371.1:c.*1114C>T, NM_001346374.2:c.*1202C>T, NM_001346374.1:c.*1202C>T, NM_001346396.2:c.364C>T, NM_001346396.1:c.364C>T, NM_001346390.2:c.430C>T, NM_001346390.1:c.430C>T, NM_001346381.2:c.430C>T, NM_001346381.1:c.430C>T, NM_001346391.2:c.430C>T, NM_001346391.1:c.430C>T, NM_001346376.2:c.430C>T, NM_001346376.1:c.430C>T, NM_001346394.2:c.364C>T, NM_001346394.1:c.364C>T, NM_001346395.2:c.364C>T, NM_001346395.1:c.364C>T, NM_001346382.2:c.430C>T, NM_001346382.1:c.430C>T, NM_001346383.2:c.430C>T, NM_001346383.1:c.430C>T, NM_001346379.2:c.430C>T, NM_001346379.1:c.430C>T, NM_001346380.2:c.430C>T, NM_001346380.1:c.430C>T, NM_001346375.2:c.430C>T, NM_001346375.1:c.430C>T, NM_001346385.2:c.430C>T, NM_001346385.1:c.430C>T, NM_001346389.2:c.430C>T, NM_001346389.1:c.430C>T, NM_001346378.2:c.430C>T, NM_001346378.1:c.430C>T, NM_001346377.2:c.430C>T, NM_001346377.1:c.430C>T, NM_001346388.2:c.430C>T, NM_001346388.1:c.430C>T, NM_001346387.2:c.430C>T, NM_001346387.1:c.430C>T, NM_001346370.2:c.892C>T, NM_001346370.1:c.892C>T, NM_001346384.2:c.430C>T, NM_001346384.1:c.430C>T, NM_001346373.2:c.556C>T, NM_001346373.1:c.556C>T, NP_620133.1:p.Gln320Ter, NP_001333315.1:p.Gln144Ter, NP_001333322.1:p.Gln122Ter, NP_001333321.1:p.Gln144Ter, NP_001333325.1:p.Gln122Ter, NP_001333319.1:p.Gln144Ter, NP_001333310.1:p.Gln144Ter, NP_001333320.1:p.Gln144Ter, NP_001333305.1:p.Gln144Ter, NP_001333323.1:p.Gln122Ter, NP_001333324.1:p.Gln122Ter, NP_001333311.1:p.Gln144Ter, NP_001333312.1:p.Gln144Ter, NP_001333308.1:p.Gln144Ter, NP_001333309.1:p.Gln144Ter, NP_001333304.1:p.Gln144Ter, NP_001333314.1:p.Gln144Ter, NP_001333318.1:p.Gln144Ter, NP_001333307.1:p.Gln144Ter, NP_001333306.1:p.Gln144Ter, NP_001333317.1:p.Gln144Ter, NP_001333316.1:p.Gln144Ter, NP_001333299.1:p.Gln298Ter, NP_001333313.1:p.Gln144Ter, NP_001333302.1:p.Gln186Ter

          4.

          rs1474127914 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:137555256 (GRCh38)
            9:140449708 (GRCh37)
            Canonical SPDI:
            NC_000009.12:137555255:C:T
            Gene:
            DPH7 (Varview), LOC124902317 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.137555256C>T, NC_000009.11:g.140449708C>T, NG_051807.1:g.28680G>A, NM_138778.5:c.1342G>A, NM_138778.4:c.1342G>A, NM_138778.3:c.1342G>A, NM_138778.2:c.1342G>A, NM_001346386.2:c.814G>A, NM_001346386.1:c.814G>A, NM_001346393.2:c.748G>A, NM_001346393.1:c.748G>A, NM_001346392.2:c.814G>A, NM_001346392.1:c.814G>A, NM_001346372.2:c.*1586G>A, NM_001346372.1:c.*1586G>A, NM_001346371.2:c.*1498G>A, NM_001346371.1:c.*1498G>A, NM_001346374.2:c.*1586G>A, NM_001346374.1:c.*1586G>A, NM_001346396.2:c.748G>A, NM_001346396.1:c.748G>A, NM_001346390.2:c.814G>A, NM_001346390.1:c.814G>A, NM_001346381.2:c.814G>A, NM_001346381.1:c.814G>A, NM_001346391.2:c.814G>A, NM_001346391.1:c.814G>A, NM_001346376.2:c.814G>A, NM_001346376.1:c.814G>A, NM_001346394.2:c.748G>A, NM_001346394.1:c.748G>A, NM_001346395.2:c.748G>A, NM_001346395.1:c.748G>A, NM_001346382.2:c.814G>A, NM_001346382.1:c.814G>A, NM_001346383.2:c.814G>A, NM_001346383.1:c.814G>A, NM_001346379.2:c.814G>A, NM_001346379.1:c.814G>A, NM_001346380.2:c.814G>A, NM_001346380.1:c.814G>A, NM_001346375.2:c.814G>A, NM_001346375.1:c.814G>A, NM_001346385.2:c.814G>A, NM_001346385.1:c.814G>A, NM_001346389.2:c.814G>A, NM_001346389.1:c.814G>A, NM_001346378.2:c.814G>A, NM_001346378.1:c.814G>A, NM_001346377.2:c.814G>A, NM_001346377.1:c.814G>A, NM_001346388.2:c.814G>A, NM_001346388.1:c.814G>A, NM_001346387.2:c.814G>A, NM_001346387.1:c.814G>A, NM_001346370.2:c.1276G>A, NM_001346370.1:c.1276G>A, NM_001346384.2:c.814G>A, NM_001346384.1:c.814G>A, NM_001346373.2:c.940G>A, NM_001346373.1:c.940G>A, NP_620133.1:p.Glu448Lys, NP_001333315.1:p.Glu272Lys, NP_001333322.1:p.Glu250Lys, NP_001333321.1:p.Glu272Lys, NP_001333325.1:p.Glu250Lys, NP_001333319.1:p.Glu272Lys, NP_001333310.1:p.Glu272Lys, NP_001333320.1:p.Glu272Lys, NP_001333305.1:p.Glu272Lys, NP_001333323.1:p.Glu250Lys, NP_001333324.1:p.Glu250Lys, NP_001333311.1:p.Glu272Lys, NP_001333312.1:p.Glu272Lys, NP_001333308.1:p.Glu272Lys, NP_001333309.1:p.Glu272Lys, NP_001333304.1:p.Glu272Lys, NP_001333314.1:p.Glu272Lys, NP_001333318.1:p.Glu272Lys, NP_001333307.1:p.Glu272Lys, NP_001333306.1:p.Glu272Lys, NP_001333317.1:p.Glu272Lys, NP_001333316.1:p.Glu272Lys, NP_001333299.1:p.Glu426Lys, NP_001333313.1:p.Glu272Lys, NP_001333302.1:p.Glu314Lys

            5.

            rs1473825835 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:137574237 (GRCh38)
              9:140468689 (GRCh37)
              Canonical SPDI:
              NC_000009.12:137574236:T:C
              Gene:
              DPH7 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.137574237T>C, NC_000009.11:g.140468689T>C, NG_051807.1:g.9699A>G, NM_138778.5:c.611A>G, NM_138778.4:c.611A>G, NM_138778.3:c.611A>G, NM_138778.2:c.611A>G, NM_001346386.2:c.83A>G, NM_001346386.1:c.83A>G, NM_001346393.2:c.83A>G, NM_001346393.1:c.83A>G, NM_001346392.2:c.83A>G, NM_001346392.1:c.83A>G, NM_001346372.2:c.611A>G, NM_001346372.1:c.611A>G, NM_001346371.2:c.611A>G, NM_001346371.1:c.611A>G, NM_001346374.2:c.611A>G, NM_001346374.1:c.611A>G, NM_001346396.2:c.83A>G, NM_001346396.1:c.83A>G, NM_001346390.2:c.83A>G, NM_001346390.1:c.83A>G, NM_001346381.2:c.83A>G, NM_001346381.1:c.83A>G, NM_001346391.2:c.83A>G, NM_001346391.1:c.83A>G, NM_001346376.2:c.83A>G, NM_001346376.1:c.83A>G, NM_001346394.2:c.83A>G, NM_001346394.1:c.83A>G, NM_001346395.2:c.83A>G, NM_001346395.1:c.83A>G, NM_001346382.2:c.83A>G, NM_001346382.1:c.83A>G, NM_001346383.2:c.83A>G, NM_001346383.1:c.83A>G, NM_001346379.2:c.83A>G, NM_001346379.1:c.83A>G, NM_001346380.2:c.83A>G, NM_001346380.1:c.83A>G, NM_001346375.2:c.83A>G, NM_001346375.1:c.83A>G, NM_001346385.2:c.83A>G, NM_001346385.1:c.83A>G, NM_001346389.2:c.83A>G, NM_001346389.1:c.83A>G, NM_001346378.2:c.83A>G, NM_001346378.1:c.83A>G, NM_001346377.2:c.83A>G, NM_001346377.1:c.83A>G, NM_001346388.2:c.83A>G, NM_001346388.1:c.83A>G, NM_001346387.2:c.83A>G, NM_001346387.1:c.83A>G, NM_001346370.2:c.611A>G, NM_001346370.1:c.611A>G, NM_001346384.2:c.83A>G, NM_001346384.1:c.83A>G, NM_001346373.2:c.209A>G, NM_001346373.1:c.209A>G, NP_620133.1:p.Asn204Ser, NP_001333315.1:p.Asn28Ser, NP_001333322.1:p.Asn28Ser, NP_001333321.1:p.Asn28Ser, NP_001333301.1:p.Asn204Ser, NP_001333300.1:p.Asn204Ser, NP_001333303.1:p.Asn204Ser, NP_001333325.1:p.Asn28Ser, NP_001333319.1:p.Asn28Ser, NP_001333310.1:p.Asn28Ser, NP_001333320.1:p.Asn28Ser, NP_001333305.1:p.Asn28Ser, NP_001333323.1:p.Asn28Ser, NP_001333324.1:p.Asn28Ser, NP_001333311.1:p.Asn28Ser, NP_001333312.1:p.Asn28Ser, NP_001333308.1:p.Asn28Ser, NP_001333309.1:p.Asn28Ser, NP_001333304.1:p.Asn28Ser, NP_001333314.1:p.Asn28Ser, NP_001333318.1:p.Asn28Ser, NP_001333307.1:p.Asn28Ser, NP_001333306.1:p.Asn28Ser, NP_001333317.1:p.Asn28Ser, NP_001333316.1:p.Asn28Ser, NP_001333299.1:p.Asn204Ser, NP_001333313.1:p.Asn28Ser, NP_001333302.1:p.Asn70Ser

              6.

              rs1468037625 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:137565132 (GRCh38)
                9:140459584 (GRCh37)
                Canonical SPDI:
                NC_000009.12:137565131:C:T
                Gene:
                DPH7 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.137565132C>T, NC_000009.11:g.140459584C>T, NG_051807.1:g.18804G>A, NM_138778.5:c.663G>A, NM_138778.4:c.663G>A, NM_138778.3:c.663G>A, NM_138778.2:c.663G>A, NM_001346386.2:c.135G>A, NM_001346386.1:c.135G>A, NM_001346393.2:c.135G>A, NM_001346393.1:c.135G>A, NM_001346392.2:c.135G>A, NM_001346392.1:c.135G>A, NM_001346372.2:c.663G>A, NM_001346372.1:c.663G>A, NM_001346371.2:c.663G>A, NM_001346371.1:c.663G>A, NM_001346374.2:c.663G>A, NM_001346374.1:c.663G>A, NM_001346396.2:c.135G>A, NM_001346396.1:c.135G>A, NM_001346390.2:c.135G>A, NM_001346390.1:c.135G>A, NM_001346381.2:c.135G>A, NM_001346381.1:c.135G>A, NM_001346391.2:c.135G>A, NM_001346391.1:c.135G>A, NM_001346376.2:c.135G>A, NM_001346376.1:c.135G>A, NM_001346394.2:c.135G>A, NM_001346394.1:c.135G>A, NM_001346395.2:c.135G>A, NM_001346395.1:c.135G>A, NM_001346382.2:c.135G>A, NM_001346382.1:c.135G>A, NM_001346383.2:c.135G>A, NM_001346383.1:c.135G>A, NM_001346379.2:c.135G>A, NM_001346379.1:c.135G>A, NM_001346380.2:c.135G>A, NM_001346380.1:c.135G>A, NM_001346375.2:c.135G>A, NM_001346375.1:c.135G>A, NM_001346385.2:c.135G>A, NM_001346385.1:c.135G>A, NM_001346389.2:c.135G>A, NM_001346389.1:c.135G>A, NM_001346378.2:c.135G>A, NM_001346378.1:c.135G>A, NM_001346377.2:c.135G>A, NM_001346377.1:c.135G>A, NM_001346388.2:c.135G>A, NM_001346388.1:c.135G>A, NM_001346387.2:c.135G>A, NM_001346387.1:c.135G>A, NM_001346370.2:c.663G>A, NM_001346370.1:c.663G>A, NM_001346384.2:c.135G>A, NM_001346384.1:c.135G>A, NM_001346373.2:c.261G>A, NM_001346373.1:c.261G>A

                7.

                rs1466366879 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:137574215 (GRCh38)
                  9:140468667 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:137574214:C:T
                  Gene:
                  DPH7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000047/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.137574215C>T, NC_000009.11:g.140468667C>T, NG_051807.1:g.9721G>A, NM_138778.5:c.633G>A, NM_138778.4:c.633G>A, NM_138778.3:c.633G>A, NM_138778.2:c.633G>A, NM_001346386.2:c.105G>A, NM_001346386.1:c.105G>A, NM_001346393.2:c.105G>A, NM_001346393.1:c.105G>A, NM_001346392.2:c.105G>A, NM_001346392.1:c.105G>A, NM_001346372.2:c.633G>A, NM_001346372.1:c.633G>A, NM_001346371.2:c.633G>A, NM_001346371.1:c.633G>A, NM_001346374.2:c.633G>A, NM_001346374.1:c.633G>A, NM_001346396.2:c.105G>A, NM_001346396.1:c.105G>A, NM_001346390.2:c.105G>A, NM_001346390.1:c.105G>A, NM_001346381.2:c.105G>A, NM_001346381.1:c.105G>A, NM_001346391.2:c.105G>A, NM_001346391.1:c.105G>A, NM_001346376.2:c.105G>A, NM_001346376.1:c.105G>A, NM_001346394.2:c.105G>A, NM_001346394.1:c.105G>A, NM_001346395.2:c.105G>A, NM_001346395.1:c.105G>A, NM_001346382.2:c.105G>A, NM_001346382.1:c.105G>A, NM_001346383.2:c.105G>A, NM_001346383.1:c.105G>A, NM_001346379.2:c.105G>A, NM_001346379.1:c.105G>A, NM_001346380.2:c.105G>A, NM_001346380.1:c.105G>A, NM_001346375.2:c.105G>A, NM_001346375.1:c.105G>A, NM_001346385.2:c.105G>A, NM_001346385.1:c.105G>A, NM_001346389.2:c.105G>A, NM_001346389.1:c.105G>A, NM_001346378.2:c.105G>A, NM_001346378.1:c.105G>A, NM_001346377.2:c.105G>A, NM_001346377.1:c.105G>A, NM_001346388.2:c.105G>A, NM_001346388.1:c.105G>A, NM_001346387.2:c.105G>A, NM_001346387.1:c.105G>A, NM_001346370.2:c.633G>A, NM_001346370.1:c.633G>A, NM_001346384.2:c.105G>A, NM_001346384.1:c.105G>A, NM_001346373.2:c.231G>A, NM_001346373.1:c.231G>A

                  8.

                  rs1462105001 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:137574316 (GRCh38)
                    9:140468768 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:137574315:C:T
                    Gene:
                    DPH7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.137574316C>T, NC_000009.11:g.140468768C>T, NG_051807.1:g.9620G>A, NM_138778.5:c.532G>A, NM_138778.4:c.532G>A, NM_138778.3:c.532G>A, NM_138778.2:c.532G>A, NM_001346386.2:c.4G>A, NM_001346386.1:c.4G>A, NM_001346393.2:c.4G>A, NM_001346393.1:c.4G>A, NM_001346392.2:c.4G>A, NM_001346392.1:c.4G>A, NM_001346372.2:c.532G>A, NM_001346372.1:c.532G>A, NM_001346371.2:c.532G>A, NM_001346371.1:c.532G>A, NM_001346374.2:c.532G>A, NM_001346374.1:c.532G>A, NM_001346396.2:c.4G>A, NM_001346396.1:c.4G>A, NM_001346390.2:c.4G>A, NM_001346390.1:c.4G>A, NM_001346381.2:c.4G>A, NM_001346381.1:c.4G>A, NM_001346391.2:c.4G>A, NM_001346391.1:c.4G>A, NM_001346376.2:c.4G>A, NM_001346376.1:c.4G>A, NM_001346394.2:c.4G>A, NM_001346394.1:c.4G>A, NM_001346395.2:c.4G>A, NM_001346395.1:c.4G>A, NM_001346382.2:c.4G>A, NM_001346382.1:c.4G>A, NM_001346383.2:c.4G>A, NM_001346383.1:c.4G>A, NM_001346379.2:c.4G>A, NM_001346379.1:c.4G>A, NM_001346380.2:c.4G>A, NM_001346380.1:c.4G>A, NM_001346375.2:c.4G>A, NM_001346375.1:c.4G>A, NM_001346385.2:c.4G>A, NM_001346385.1:c.4G>A, NM_001346389.2:c.4G>A, NM_001346389.1:c.4G>A, NM_001346378.2:c.4G>A, NM_001346378.1:c.4G>A, NM_001346377.2:c.4G>A, NM_001346377.1:c.4G>A, NM_001346388.2:c.4G>A, NM_001346388.1:c.4G>A, NM_001346387.2:c.4G>A, NM_001346387.1:c.4G>A, NM_001346370.2:c.532G>A, NM_001346370.1:c.532G>A, NM_001346384.2:c.4G>A, NM_001346384.1:c.4G>A, NM_001346373.2:c.130G>A, NM_001346373.1:c.130G>A, NP_620133.1:p.Val178Met, NP_001333315.1:p.Val2Met, NP_001333322.1:p.Val2Met, NP_001333321.1:p.Val2Met, NP_001333301.1:p.Val178Met, NP_001333300.1:p.Val178Met, NP_001333303.1:p.Val178Met, NP_001333325.1:p.Val2Met, NP_001333319.1:p.Val2Met, NP_001333310.1:p.Val2Met, NP_001333320.1:p.Val2Met, NP_001333305.1:p.Val2Met, NP_001333323.1:p.Val2Met, NP_001333324.1:p.Val2Met, NP_001333311.1:p.Val2Met, NP_001333312.1:p.Val2Met, NP_001333308.1:p.Val2Met, NP_001333309.1:p.Val2Met, NP_001333304.1:p.Val2Met, NP_001333314.1:p.Val2Met, NP_001333318.1:p.Val2Met, NP_001333307.1:p.Val2Met, NP_001333306.1:p.Val2Met, NP_001333317.1:p.Val2Met, NP_001333316.1:p.Val2Met, NP_001333299.1:p.Val178Met, NP_001333313.1:p.Val2Met, NP_001333302.1:p.Val44Met

                    9.

                    rs1458032471 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      9:137555516 (GRCh38)
                      9:140449968 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:137555515:C:G
                      Gene:
                      DPH7 (Varview), LOC124902317 (Varview)
                      Functional Consequence:
                      missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000009.12:g.137555516C>G, NC_000009.11:g.140449968C>G, NG_051807.1:g.28420G>C, NM_138778.5:c.1082G>C, NM_138778.4:c.1082G>C, NM_138778.3:c.1082G>C, NM_138778.2:c.1082G>C, NM_001346386.2:c.554G>C, NM_001346386.1:c.554G>C, NM_001346393.2:c.488G>C, NM_001346393.1:c.488G>C, NM_001346392.2:c.554G>C, NM_001346392.1:c.554G>C, NM_001346372.2:c.*1326G>C, NM_001346372.1:c.*1326G>C, NM_001346371.2:c.*1238G>C, NM_001346371.1:c.*1238G>C, NM_001346374.2:c.*1326G>C, NM_001346374.1:c.*1326G>C, NM_001346396.2:c.488G>C, NM_001346396.1:c.488G>C, NM_001346390.2:c.554G>C, NM_001346390.1:c.554G>C, NM_001346381.2:c.554G>C, NM_001346381.1:c.554G>C, NM_001346391.2:c.554G>C, NM_001346391.1:c.554G>C, NM_001346376.2:c.554G>C, NM_001346376.1:c.554G>C, NM_001346394.2:c.488G>C, NM_001346394.1:c.488G>C, NM_001346395.2:c.488G>C, NM_001346395.1:c.488G>C, NM_001346382.2:c.554G>C, NM_001346382.1:c.554G>C, NM_001346383.2:c.554G>C, NM_001346383.1:c.554G>C, NM_001346379.2:c.554G>C, NM_001346379.1:c.554G>C, NM_001346380.2:c.554G>C, NM_001346380.1:c.554G>C, NM_001346375.2:c.554G>C, NM_001346375.1:c.554G>C, NM_001346385.2:c.554G>C, NM_001346385.1:c.554G>C, NM_001346389.2:c.554G>C, NM_001346389.1:c.554G>C, NM_001346378.2:c.554G>C, NM_001346378.1:c.554G>C, NM_001346377.2:c.554G>C, NM_001346377.1:c.554G>C, NM_001346388.2:c.554G>C, NM_001346388.1:c.554G>C, NM_001346387.2:c.554G>C, NM_001346387.1:c.554G>C, NM_001346370.2:c.1016G>C, NM_001346370.1:c.1016G>C, NM_001346384.2:c.554G>C, NM_001346384.1:c.554G>C, NM_001346373.2:c.680G>C, NM_001346373.1:c.680G>C, NP_620133.1:p.Gly361Ala, NP_001333315.1:p.Gly185Ala, NP_001333322.1:p.Gly163Ala, NP_001333321.1:p.Gly185Ala, NP_001333325.1:p.Gly163Ala, NP_001333319.1:p.Gly185Ala, NP_001333310.1:p.Gly185Ala, NP_001333320.1:p.Gly185Ala, NP_001333305.1:p.Gly185Ala, NP_001333323.1:p.Gly163Ala, NP_001333324.1:p.Gly163Ala, NP_001333311.1:p.Gly185Ala, NP_001333312.1:p.Gly185Ala, NP_001333308.1:p.Gly185Ala, NP_001333309.1:p.Gly185Ala, NP_001333304.1:p.Gly185Ala, NP_001333314.1:p.Gly185Ala, NP_001333318.1:p.Gly185Ala, NP_001333307.1:p.Gly185Ala, NP_001333306.1:p.Gly185Ala, NP_001333317.1:p.Gly185Ala, NP_001333316.1:p.Gly185Ala, NP_001333299.1:p.Gly339Ala, NP_001333313.1:p.Gly185Ala, NP_001333302.1:p.Gly227Ala

                      10.

                      rs1457437624 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:137555386 (GRCh38)
                        9:140449838 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:137555385:C:T
                        Gene:
                        DPH7 (Varview), LOC124902317 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.137555386C>T, NC_000009.11:g.140449838C>T, NG_051807.1:g.28550G>A, NM_138778.5:c.1212G>A, NM_138778.4:c.1212G>A, NM_138778.3:c.1212G>A, NM_138778.2:c.1212G>A, NM_001346386.2:c.684G>A, NM_001346386.1:c.684G>A, NM_001346393.2:c.618G>A, NM_001346393.1:c.618G>A, NM_001346392.2:c.684G>A, NM_001346392.1:c.684G>A, NM_001346372.2:c.*1456G>A, NM_001346372.1:c.*1456G>A, NM_001346371.2:c.*1368G>A, NM_001346371.1:c.*1368G>A, NM_001346374.2:c.*1456G>A, NM_001346374.1:c.*1456G>A, NM_001346396.2:c.618G>A, NM_001346396.1:c.618G>A, NM_001346390.2:c.684G>A, NM_001346390.1:c.684G>A, NM_001346381.2:c.684G>A, NM_001346381.1:c.684G>A, NM_001346391.2:c.684G>A, NM_001346391.1:c.684G>A, NM_001346376.2:c.684G>A, NM_001346376.1:c.684G>A, NM_001346394.2:c.618G>A, NM_001346394.1:c.618G>A, NM_001346395.2:c.618G>A, NM_001346395.1:c.618G>A, NM_001346382.2:c.684G>A, NM_001346382.1:c.684G>A, NM_001346383.2:c.684G>A, NM_001346383.1:c.684G>A, NM_001346379.2:c.684G>A, NM_001346379.1:c.684G>A, NM_001346380.2:c.684G>A, NM_001346380.1:c.684G>A, NM_001346375.2:c.684G>A, NM_001346375.1:c.684G>A, NM_001346385.2:c.684G>A, NM_001346385.1:c.684G>A, NM_001346389.2:c.684G>A, NM_001346389.1:c.684G>A, NM_001346378.2:c.684G>A, NM_001346378.1:c.684G>A, NM_001346377.2:c.684G>A, NM_001346377.1:c.684G>A, NM_001346388.2:c.684G>A, NM_001346388.1:c.684G>A, NM_001346387.2:c.684G>A, NM_001346387.1:c.684G>A, NM_001346370.2:c.1146G>A, NM_001346370.1:c.1146G>A, NM_001346384.2:c.684G>A, NM_001346384.1:c.684G>A, NM_001346373.2:c.810G>A, NM_001346373.1:c.810G>A

                        11.

                        rs1454114343 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:137574269 (GRCh38)
                          9:140468721 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:137574268:T:C
                          Gene:
                          DPH7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.137574269T>C, NC_000009.11:g.140468721T>C, NG_051807.1:g.9667A>G, NM_138778.5:c.579A>G, NM_138778.4:c.579A>G, NM_138778.3:c.579A>G, NM_138778.2:c.579A>G, NM_001346386.2:c.51A>G, NM_001346386.1:c.51A>G, NM_001346393.2:c.51A>G, NM_001346393.1:c.51A>G, NM_001346392.2:c.51A>G, NM_001346392.1:c.51A>G, NM_001346372.2:c.579A>G, NM_001346372.1:c.579A>G, NM_001346371.2:c.579A>G, NM_001346371.1:c.579A>G, NM_001346374.2:c.579A>G, NM_001346374.1:c.579A>G, NM_001346396.2:c.51A>G, NM_001346396.1:c.51A>G, NM_001346390.2:c.51A>G, NM_001346390.1:c.51A>G, NM_001346381.2:c.51A>G, NM_001346381.1:c.51A>G, NM_001346391.2:c.51A>G, NM_001346391.1:c.51A>G, NM_001346376.2:c.51A>G, NM_001346376.1:c.51A>G, NM_001346394.2:c.51A>G, NM_001346394.1:c.51A>G, NM_001346395.2:c.51A>G, NM_001346395.1:c.51A>G, NM_001346382.2:c.51A>G, NM_001346382.1:c.51A>G, NM_001346383.2:c.51A>G, NM_001346383.1:c.51A>G, NM_001346379.2:c.51A>G, NM_001346379.1:c.51A>G, NM_001346380.2:c.51A>G, NM_001346380.1:c.51A>G, NM_001346375.2:c.51A>G, NM_001346375.1:c.51A>G, NM_001346385.2:c.51A>G, NM_001346385.1:c.51A>G, NM_001346389.2:c.51A>G, NM_001346389.1:c.51A>G, NM_001346378.2:c.51A>G, NM_001346378.1:c.51A>G, NM_001346377.2:c.51A>G, NM_001346377.1:c.51A>G, NM_001346388.2:c.51A>G, NM_001346388.1:c.51A>G, NM_001346387.2:c.51A>G, NM_001346387.1:c.51A>G, NM_001346370.2:c.579A>G, NM_001346370.1:c.579A>G, NM_001346384.2:c.51A>G, NM_001346384.1:c.51A>G, NM_001346373.2:c.177A>G, NM_001346373.1:c.177A>G

                          12.

                          rs1448971925 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            9:137555469 (GRCh38)
                            9:140449921 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:137555468:AG:
                            Gene:
                            DPH7 (Varview), LOC124902317 (Varview)
                            Functional Consequence:
                            frameshift_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000009.12:g.137555469_137555470del, NC_000009.11:g.140449921_140449922del, NG_051807.1:g.28466_28467del, NM_138778.5:c.1128_1129del, NM_138778.4:c.1128_1129del, NM_138778.3:c.1128_1129del, NM_138778.2:c.1128_1129del, NM_001346386.2:c.600_601del, NM_001346386.1:c.600_601del, NM_001346393.2:c.534_535del, NM_001346393.1:c.534_535del, NM_001346392.2:c.600_601del, NM_001346392.1:c.600_601del, NM_001346372.2:c.*1372_*1373del, NM_001346372.1:c.*1372_*1373del, NM_001346371.2:c.*1284_*1285del, NM_001346371.1:c.*1284_*1285del, NM_001346374.2:c.*1372_*1373del, NM_001346374.1:c.*1372_*1373del, NM_001346396.2:c.534_535del, NM_001346396.1:c.534_535del, NM_001346390.2:c.600_601del, NM_001346390.1:c.600_601del, NM_001346381.2:c.600_601del, NM_001346381.1:c.600_601del, NM_001346391.2:c.600_601del, NM_001346391.1:c.600_601del, NM_001346376.2:c.600_601del, NM_001346376.1:c.600_601del, NM_001346394.2:c.534_535del, NM_001346394.1:c.534_535del, NM_001346395.2:c.534_535del, NM_001346395.1:c.534_535del, NM_001346382.2:c.600_601del, NM_001346382.1:c.600_601del, NM_001346383.2:c.600_601del, NM_001346383.1:c.600_601del, NM_001346379.2:c.600_601del, NM_001346379.1:c.600_601del, NM_001346380.2:c.600_601del, NM_001346380.1:c.600_601del, NM_001346375.2:c.600_601del, NM_001346375.1:c.600_601del, NM_001346385.2:c.600_601del, NM_001346385.1:c.600_601del, NM_001346389.2:c.600_601del, NM_001346389.1:c.600_601del, NM_001346378.2:c.600_601del, NM_001346378.1:c.600_601del, NM_001346377.2:c.600_601del, NM_001346377.1:c.600_601del, NM_001346388.2:c.600_601del, NM_001346388.1:c.600_601del, NM_001346387.2:c.600_601del, NM_001346387.1:c.600_601del, NM_001346370.2:c.1062_1063del, NM_001346370.1:c.1062_1063del, NM_001346384.2:c.600_601del, NM_001346384.1:c.600_601del, NM_001346373.2:c.726_727del, NM_001346373.1:c.726_727del, NP_620133.1:p.Cys377fs, NP_001333315.1:p.Cys201fs, NP_001333322.1:p.Cys179fs, NP_001333321.1:p.Cys201fs, NP_001333325.1:p.Cys179fs, NP_001333319.1:p.Cys201fs, NP_001333310.1:p.Cys201fs, NP_001333320.1:p.Cys201fs, NP_001333305.1:p.Cys201fs, NP_001333323.1:p.Cys179fs, NP_001333324.1:p.Cys179fs, NP_001333311.1:p.Cys201fs, NP_001333312.1:p.Cys201fs, NP_001333308.1:p.Cys201fs, NP_001333309.1:p.Cys201fs, NP_001333304.1:p.Cys201fs, NP_001333314.1:p.Cys201fs, NP_001333318.1:p.Cys201fs, NP_001333307.1:p.Cys201fs, NP_001333306.1:p.Cys201fs, NP_001333317.1:p.Cys201fs, NP_001333316.1:p.Cys201fs, NP_001333299.1:p.Cys355fs, NP_001333313.1:p.Cys201fs, NP_001333302.1:p.Cys243fs

                            13.

                            rs1446974541 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              9:137555421 (GRCh38)
                              9:140449873 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:137555420:G:A,NC_000009.12:137555420:G:T
                              Gene:
                              DPH7 (Varview), LOC124902317 (Varview)
                              Functional Consequence:
                              stop_gained,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.00034/1 (KOREAN)
                              A=0.00055/1 (Korea1K)
                              HGVS:
                              NC_000009.12:g.137555421G>A, NC_000009.12:g.137555421G>T, NC_000009.11:g.140449873G>A, NC_000009.11:g.140449873G>T, NG_051807.1:g.28515C>T, NG_051807.1:g.28515C>A, NM_138778.5:c.1177C>T, NM_138778.5:c.1177C>A, NM_138778.4:c.1177C>T, NM_138778.4:c.1177C>A, NM_138778.3:c.1177C>T, NM_138778.3:c.1177C>A, NM_138778.2:c.1177C>T, NM_138778.2:c.1177C>A, NM_001346386.2:c.649C>T, NM_001346386.2:c.649C>A, NM_001346386.1:c.649C>T, NM_001346386.1:c.649C>A, NM_001346393.2:c.583C>T, NM_001346393.2:c.583C>A, NM_001346393.1:c.583C>T, NM_001346393.1:c.583C>A, NM_001346392.2:c.649C>T, NM_001346392.2:c.649C>A, NM_001346392.1:c.649C>T, NM_001346392.1:c.649C>A, NM_001346372.2:c.*1421C>T, NM_001346372.2:c.*1421C>A, NM_001346372.1:c.*1421C>T, NM_001346372.1:c.*1421C>A, NM_001346371.2:c.*1333C>T, NM_001346371.2:c.*1333C>A, NM_001346371.1:c.*1333C>T, NM_001346371.1:c.*1333C>A, NM_001346374.2:c.*1421C>T, NM_001346374.2:c.*1421C>A, NM_001346374.1:c.*1421C>T, NM_001346374.1:c.*1421C>A, NM_001346396.2:c.583C>T, NM_001346396.2:c.583C>A, NM_001346396.1:c.583C>T, NM_001346396.1:c.583C>A, NM_001346390.2:c.649C>T, NM_001346390.2:c.649C>A, NM_001346390.1:c.649C>T, NM_001346390.1:c.649C>A, NM_001346381.2:c.649C>T, NM_001346381.2:c.649C>A, NM_001346381.1:c.649C>T, NM_001346381.1:c.649C>A, NM_001346391.2:c.649C>T, NM_001346391.2:c.649C>A, NM_001346391.1:c.649C>T, NM_001346391.1:c.649C>A, NM_001346376.2:c.649C>T, NM_001346376.2:c.649C>A, NM_001346376.1:c.649C>T, NM_001346376.1:c.649C>A, NM_001346394.2:c.583C>T, NM_001346394.2:c.583C>A, NM_001346394.1:c.583C>T, NM_001346394.1:c.583C>A, NM_001346395.2:c.583C>T, NM_001346395.2:c.583C>A, NM_001346395.1:c.583C>T, NM_001346395.1:c.583C>A, NM_001346382.2:c.649C>T, NM_001346382.2:c.649C>A, NM_001346382.1:c.649C>T, NM_001346382.1:c.649C>A, NM_001346383.2:c.649C>T, NM_001346383.2:c.649C>A, NM_001346383.1:c.649C>T, NM_001346383.1:c.649C>A, NM_001346379.2:c.649C>T, NM_001346379.2:c.649C>A, NM_001346379.1:c.649C>T, NM_001346379.1:c.649C>A, NM_001346380.2:c.649C>T, NM_001346380.2:c.649C>A, NM_001346380.1:c.649C>T, NM_001346380.1:c.649C>A, NM_001346375.2:c.649C>T, NM_001346375.2:c.649C>A, NM_001346375.1:c.649C>T, NM_001346375.1:c.649C>A, NM_001346385.2:c.649C>T, NM_001346385.2:c.649C>A, NM_001346385.1:c.649C>T, NM_001346385.1:c.649C>A, NM_001346389.2:c.649C>T, NM_001346389.2:c.649C>A, NM_001346389.1:c.649C>T, NM_001346389.1:c.649C>A, NM_001346378.2:c.649C>T, NM_001346378.2:c.649C>A, NM_001346378.1:c.649C>T, NM_001346378.1:c.649C>A, NM_001346377.2:c.649C>T, NM_001346377.2:c.649C>A, NM_001346377.1:c.649C>T, NM_001346377.1:c.649C>A, NM_001346388.2:c.649C>T, NM_001346388.2:c.649C>A, NM_001346388.1:c.649C>T, NM_001346388.1:c.649C>A, NM_001346387.2:c.649C>T, NM_001346387.2:c.649C>A, NM_001346387.1:c.649C>T, NM_001346387.1:c.649C>A, NM_001346370.2:c.1111C>T, NM_001346370.2:c.1111C>A, NM_001346370.1:c.1111C>T, NM_001346370.1:c.1111C>A, NM_001346384.2:c.649C>T, NM_001346384.2:c.649C>A, NM_001346384.1:c.649C>T, NM_001346384.1:c.649C>A, NM_001346373.2:c.775C>T, NM_001346373.2:c.775C>A, NM_001346373.1:c.775C>T, NM_001346373.1:c.775C>A, NP_620133.1:p.Gln393Ter, NP_620133.1:p.Gln393Lys, NP_001333315.1:p.Gln217Ter, NP_001333315.1:p.Gln217Lys, NP_001333322.1:p.Gln195Ter, NP_001333322.1:p.Gln195Lys, NP_001333321.1:p.Gln217Ter, NP_001333321.1:p.Gln217Lys, NP_001333325.1:p.Gln195Ter, NP_001333325.1:p.Gln195Lys, NP_001333319.1:p.Gln217Ter, NP_001333319.1:p.Gln217Lys, NP_001333310.1:p.Gln217Ter, NP_001333310.1:p.Gln217Lys, NP_001333320.1:p.Gln217Ter, NP_001333320.1:p.Gln217Lys, NP_001333305.1:p.Gln217Ter, NP_001333305.1:p.Gln217Lys, NP_001333323.1:p.Gln195Ter, NP_001333323.1:p.Gln195Lys, NP_001333324.1:p.Gln195Ter, NP_001333324.1:p.Gln195Lys, NP_001333311.1:p.Gln217Ter, NP_001333311.1:p.Gln217Lys, NP_001333312.1:p.Gln217Ter, NP_001333312.1:p.Gln217Lys, NP_001333308.1:p.Gln217Ter, NP_001333308.1:p.Gln217Lys, NP_001333309.1:p.Gln217Ter, NP_001333309.1:p.Gln217Lys, NP_001333304.1:p.Gln217Ter, NP_001333304.1:p.Gln217Lys, NP_001333314.1:p.Gln217Ter, NP_001333314.1:p.Gln217Lys, NP_001333318.1:p.Gln217Ter, NP_001333318.1:p.Gln217Lys, NP_001333307.1:p.Gln217Ter, NP_001333307.1:p.Gln217Lys, NP_001333306.1:p.Gln217Ter, NP_001333306.1:p.Gln217Lys, NP_001333317.1:p.Gln217Ter, NP_001333317.1:p.Gln217Lys, NP_001333316.1:p.Gln217Ter, NP_001333316.1:p.Gln217Lys, NP_001333299.1:p.Gln371Ter, NP_001333299.1:p.Gln371Lys, NP_001333313.1:p.Gln217Ter, NP_001333313.1:p.Gln217Lys, NP_001333302.1:p.Gln259Ter, NP_001333302.1:p.Gln259Lys

                              14.

                              rs1446357250 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GCCAGGAGGC>- [Show Flanks]
                                Chromosome:
                                9:137555294 (GRCh38)
                                9:140449746 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:137555293:GCCAGGAGGC:
                                Gene:
                                DPH7 (Varview), LOC124902317 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.0001/1 (ALFA)
                                HGVS:
                                NC_000009.12:g.137555294_137555303del, NC_000009.11:g.140449746_140449755del, NG_051807.1:g.28633_28642del, NM_138778.5:c.1295_1304del, NM_138778.4:c.1295_1304del, NM_138778.3:c.1295_1304del, NM_138778.2:c.1295_1304del, NM_001346386.2:c.767_776del, NM_001346386.1:c.767_776del, NM_001346393.2:c.701_710del, NM_001346393.1:c.701_710del, NM_001346392.2:c.767_776del, NM_001346392.1:c.767_776del, NM_001346372.2:c.*1539_*1548del, NM_001346372.1:c.*1539_*1548del, NM_001346371.2:c.*1451_*1460del, NM_001346371.1:c.*1451_*1460del, NM_001346374.2:c.*1539_*1548del, NM_001346374.1:c.*1539_*1548del, NM_001346396.2:c.701_710del, NM_001346396.1:c.701_710del, NM_001346390.2:c.767_776del, NM_001346390.1:c.767_776del, NM_001346381.2:c.767_776del, NM_001346381.1:c.767_776del, NM_001346391.2:c.767_776del, NM_001346391.1:c.767_776del, NM_001346376.2:c.767_776del, NM_001346376.1:c.767_776del, NM_001346394.2:c.701_710del, NM_001346394.1:c.701_710del, NM_001346395.2:c.701_710del, NM_001346395.1:c.701_710del, NM_001346382.2:c.767_776del, NM_001346382.1:c.767_776del, NM_001346383.2:c.767_776del, NM_001346383.1:c.767_776del, NM_001346379.2:c.767_776del, NM_001346379.1:c.767_776del, NM_001346380.2:c.767_776del, NM_001346380.1:c.767_776del, NM_001346375.2:c.767_776del, NM_001346375.1:c.767_776del, NM_001346385.2:c.767_776del, NM_001346385.1:c.767_776del, NM_001346389.2:c.767_776del, NM_001346389.1:c.767_776del, NM_001346378.2:c.767_776del, NM_001346378.1:c.767_776del, NM_001346377.2:c.767_776del, NM_001346377.1:c.767_776del, NM_001346388.2:c.767_776del, NM_001346388.1:c.767_776del, NM_001346387.2:c.767_776del, NM_001346387.1:c.767_776del, NM_001346370.2:c.1229_1238del, NM_001346370.1:c.1229_1238del, NM_001346384.2:c.767_776del, NM_001346384.1:c.767_776del, NM_001346373.2:c.893_902del, NM_001346373.1:c.893_902del, NP_620133.1:p.Ser432fs, NP_001333315.1:p.Ser256fs, NP_001333322.1:p.Ser234fs, NP_001333321.1:p.Ser256fs, NP_001333325.1:p.Ser234fs, NP_001333319.1:p.Ser256fs, NP_001333310.1:p.Ser256fs, NP_001333320.1:p.Ser256fs, NP_001333305.1:p.Ser256fs, NP_001333323.1:p.Ser234fs, NP_001333324.1:p.Ser234fs, NP_001333311.1:p.Ser256fs, NP_001333312.1:p.Ser256fs, NP_001333308.1:p.Ser256fs, NP_001333309.1:p.Ser256fs, NP_001333304.1:p.Ser256fs, NP_001333314.1:p.Ser256fs, NP_001333318.1:p.Ser256fs, NP_001333307.1:p.Ser256fs, NP_001333306.1:p.Ser256fs, NP_001333317.1:p.Ser256fs, NP_001333316.1:p.Ser256fs, NP_001333299.1:p.Ser410fs, NP_001333313.1:p.Ser256fs, NP_001333302.1:p.Ser298fs

                                15.

                                rs1446234149 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  9:137564535 (GRCh38)
                                  9:140458987 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:137564534:C:A
                                  Gene:
                                  DPH7 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000111/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.137564535C>A, NC_000009.11:g.140458987C>A, NG_051807.1:g.19401G>T, NM_138778.5:c.848G>T, NM_138778.4:c.848G>T, NM_138778.3:c.848G>T, NM_138778.2:c.848G>T, NM_001346386.2:c.320G>T, NM_001346386.1:c.320G>T, NM_001346393.2:c.254G>T, NM_001346393.1:c.254G>T, NM_001346392.2:c.320G>T, NM_001346392.1:c.320G>T, NM_001346372.2:c.848G>T, NM_001346372.1:c.848G>T, NM_001346371.2:c.848G>T, NM_001346371.1:c.848G>T, NM_001346374.2:c.782G>T, NM_001346374.1:c.782G>T, NM_001346396.2:c.254G>T, NM_001346396.1:c.254G>T, NM_001346390.2:c.320G>T, NM_001346390.1:c.320G>T, NM_001346381.2:c.320G>T, NM_001346381.1:c.320G>T, NM_001346391.2:c.320G>T, NM_001346391.1:c.320G>T, NM_001346376.2:c.320G>T, NM_001346376.1:c.320G>T, NM_001346394.2:c.254G>T, NM_001346394.1:c.254G>T, NM_001346395.2:c.254G>T, NM_001346395.1:c.254G>T, NM_001346382.2:c.320G>T, NM_001346382.1:c.320G>T, NM_001346383.2:c.320G>T, NM_001346383.1:c.320G>T, NM_001346379.2:c.320G>T, NM_001346379.1:c.320G>T, NM_001346380.2:c.320G>T, NM_001346380.1:c.320G>T, NM_001346375.2:c.320G>T, NM_001346375.1:c.320G>T, NM_001346385.2:c.320G>T, NM_001346385.1:c.320G>T, NM_001346389.2:c.320G>T, NM_001346389.1:c.320G>T, NM_001346378.2:c.320G>T, NM_001346378.1:c.320G>T, NM_001346377.2:c.320G>T, NM_001346377.1:c.320G>T, NM_001346388.2:c.320G>T, NM_001346388.1:c.320G>T, NM_001346387.2:c.320G>T, NM_001346387.1:c.320G>T, NM_001346370.2:c.782G>T, NM_001346370.1:c.782G>T, NM_001346384.2:c.320G>T, NM_001346384.1:c.320G>T, NM_001346373.2:c.446G>T, NM_001346373.1:c.446G>T, NP_620133.1:p.Gly283Val, NP_001333315.1:p.Gly107Val, NP_001333322.1:p.Gly85Val, NP_001333321.1:p.Gly107Val, NP_001333301.1:p.Gly283Val, NP_001333300.1:p.Gly283Val, NP_001333303.1:p.Gly261Val, NP_001333325.1:p.Gly85Val, NP_001333319.1:p.Gly107Val, NP_001333310.1:p.Gly107Val, NP_001333320.1:p.Gly107Val, NP_001333305.1:p.Gly107Val, NP_001333323.1:p.Gly85Val, NP_001333324.1:p.Gly85Val, NP_001333311.1:p.Gly107Val, NP_001333312.1:p.Gly107Val, NP_001333308.1:p.Gly107Val, NP_001333309.1:p.Gly107Val, NP_001333304.1:p.Gly107Val, NP_001333314.1:p.Gly107Val, NP_001333318.1:p.Gly107Val, NP_001333307.1:p.Gly107Val, NP_001333306.1:p.Gly107Val, NP_001333317.1:p.Gly107Val, NP_001333316.1:p.Gly107Val, NP_001333299.1:p.Gly261Val, NP_001333313.1:p.Gly107Val, NP_001333302.1:p.Gly149Val

                                  16.

                                  rs1445297280 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    9:137574232 (GRCh38)
                                    9:140468684 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:137574231:A:T
                                    Gene:
                                    DPH7 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.137574232A>T, NC_000009.11:g.140468684A>T, NG_051807.1:g.9704T>A, NM_138778.5:c.616T>A, NM_138778.4:c.616T>A, NM_138778.3:c.616T>A, NM_138778.2:c.616T>A, NM_001346386.2:c.88T>A, NM_001346386.1:c.88T>A, NM_001346393.2:c.88T>A, NM_001346393.1:c.88T>A, NM_001346392.2:c.88T>A, NM_001346392.1:c.88T>A, NM_001346372.2:c.616T>A, NM_001346372.1:c.616T>A, NM_001346371.2:c.616T>A, NM_001346371.1:c.616T>A, NM_001346374.2:c.616T>A, NM_001346374.1:c.616T>A, NM_001346396.2:c.88T>A, NM_001346396.1:c.88T>A, NM_001346390.2:c.88T>A, NM_001346390.1:c.88T>A, NM_001346381.2:c.88T>A, NM_001346381.1:c.88T>A, NM_001346391.2:c.88T>A, NM_001346391.1:c.88T>A, NM_001346376.2:c.88T>A, NM_001346376.1:c.88T>A, NM_001346394.2:c.88T>A, NM_001346394.1:c.88T>A, NM_001346395.2:c.88T>A, NM_001346395.1:c.88T>A, NM_001346382.2:c.88T>A, NM_001346382.1:c.88T>A, NM_001346383.2:c.88T>A, NM_001346383.1:c.88T>A, NM_001346379.2:c.88T>A, NM_001346379.1:c.88T>A, NM_001346380.2:c.88T>A, NM_001346380.1:c.88T>A, NM_001346375.2:c.88T>A, NM_001346375.1:c.88T>A, NM_001346385.2:c.88T>A, NM_001346385.1:c.88T>A, NM_001346389.2:c.88T>A, NM_001346389.1:c.88T>A, NM_001346378.2:c.88T>A, NM_001346378.1:c.88T>A, NM_001346377.2:c.88T>A, NM_001346377.1:c.88T>A, NM_001346388.2:c.88T>A, NM_001346388.1:c.88T>A, NM_001346387.2:c.88T>A, NM_001346387.1:c.88T>A, NM_001346370.2:c.616T>A, NM_001346370.1:c.616T>A, NM_001346384.2:c.88T>A, NM_001346384.1:c.88T>A, NM_001346373.2:c.214T>A, NM_001346373.1:c.214T>A, NP_620133.1:p.Trp206Arg, NP_001333315.1:p.Trp30Arg, NP_001333322.1:p.Trp30Arg, NP_001333321.1:p.Trp30Arg, NP_001333301.1:p.Trp206Arg, NP_001333300.1:p.Trp206Arg, NP_001333303.1:p.Trp206Arg, NP_001333325.1:p.Trp30Arg, NP_001333319.1:p.Trp30Arg, NP_001333310.1:p.Trp30Arg, NP_001333320.1:p.Trp30Arg, NP_001333305.1:p.Trp30Arg, NP_001333323.1:p.Trp30Arg, NP_001333324.1:p.Trp30Arg, NP_001333311.1:p.Trp30Arg, NP_001333312.1:p.Trp30Arg, NP_001333308.1:p.Trp30Arg, NP_001333309.1:p.Trp30Arg, NP_001333304.1:p.Trp30Arg, NP_001333314.1:p.Trp30Arg, NP_001333318.1:p.Trp30Arg, NP_001333307.1:p.Trp30Arg, NP_001333306.1:p.Trp30Arg, NP_001333317.1:p.Trp30Arg, NP_001333316.1:p.Trp30Arg, NP_001333299.1:p.Trp206Arg, NP_001333313.1:p.Trp30Arg, NP_001333302.1:p.Trp72Arg

                                    17.

                                    rs1441509347 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:137555600 (GRCh38)
                                      9:140450052 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:137555599:G:A
                                      Gene:
                                      DPH7 (Varview), LOC124902317 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.137555600G>A, NC_000009.11:g.140450052G>A, NG_051807.1:g.28336C>T, NM_138778.5:c.998C>T, NM_138778.4:c.998C>T, NM_138778.3:c.998C>T, NM_138778.2:c.998C>T, NM_001346386.2:c.470C>T, NM_001346386.1:c.470C>T, NM_001346393.2:c.404C>T, NM_001346393.1:c.404C>T, NM_001346392.2:c.470C>T, NM_001346392.1:c.470C>T, NM_001346372.2:c.*1242C>T, NM_001346372.1:c.*1242C>T, NM_001346371.2:c.*1154C>T, NM_001346371.1:c.*1154C>T, NM_001346374.2:c.*1242C>T, NM_001346374.1:c.*1242C>T, NM_001346396.2:c.404C>T, NM_001346396.1:c.404C>T, NM_001346390.2:c.470C>T, NM_001346390.1:c.470C>T, NM_001346381.2:c.470C>T, NM_001346381.1:c.470C>T, NM_001346391.2:c.470C>T, NM_001346391.1:c.470C>T, NM_001346376.2:c.470C>T, NM_001346376.1:c.470C>T, NM_001346394.2:c.404C>T, NM_001346394.1:c.404C>T, NM_001346395.2:c.404C>T, NM_001346395.1:c.404C>T, NM_001346382.2:c.470C>T, NM_001346382.1:c.470C>T, NM_001346383.2:c.470C>T, NM_001346383.1:c.470C>T, NM_001346379.2:c.470C>T, NM_001346379.1:c.470C>T, NM_001346380.2:c.470C>T, NM_001346380.1:c.470C>T, NM_001346375.2:c.470C>T, NM_001346375.1:c.470C>T, NM_001346385.2:c.470C>T, NM_001346385.1:c.470C>T, NM_001346389.2:c.470C>T, NM_001346389.1:c.470C>T, NM_001346378.2:c.470C>T, NM_001346378.1:c.470C>T, NM_001346377.2:c.470C>T, NM_001346377.1:c.470C>T, NM_001346388.2:c.470C>T, NM_001346388.1:c.470C>T, NM_001346387.2:c.470C>T, NM_001346387.1:c.470C>T, NM_001346370.2:c.932C>T, NM_001346370.1:c.932C>T, NM_001346384.2:c.470C>T, NM_001346384.1:c.470C>T, NM_001346373.2:c.596C>T, NM_001346373.1:c.596C>T, NP_620133.1:p.Ser333Leu, NP_001333315.1:p.Ser157Leu, NP_001333322.1:p.Ser135Leu, NP_001333321.1:p.Ser157Leu, NP_001333325.1:p.Ser135Leu, NP_001333319.1:p.Ser157Leu, NP_001333310.1:p.Ser157Leu, NP_001333320.1:p.Ser157Leu, NP_001333305.1:p.Ser157Leu, NP_001333323.1:p.Ser135Leu, NP_001333324.1:p.Ser135Leu, NP_001333311.1:p.Ser157Leu, NP_001333312.1:p.Ser157Leu, NP_001333308.1:p.Ser157Leu, NP_001333309.1:p.Ser157Leu, NP_001333304.1:p.Ser157Leu, NP_001333314.1:p.Ser157Leu, NP_001333318.1:p.Ser157Leu, NP_001333307.1:p.Ser157Leu, NP_001333306.1:p.Ser157Leu, NP_001333317.1:p.Ser157Leu, NP_001333316.1:p.Ser157Leu, NP_001333299.1:p.Ser311Leu, NP_001333313.1:p.Ser157Leu, NP_001333302.1:p.Ser199Leu

                                      18.

                                      rs1440612292 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        9:137555318 (GRCh38)
                                        9:140449770 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:137555317:G:C
                                        Gene:
                                        DPH7 (Varview), LOC124902317 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.137555318G>C, NC_000009.11:g.140449770G>C, NG_051807.1:g.28618C>G, NM_138778.5:c.1280C>G, NM_138778.4:c.1280C>G, NM_138778.3:c.1280C>G, NM_138778.2:c.1280C>G, NM_001346386.2:c.752C>G, NM_001346386.1:c.752C>G, NM_001346393.2:c.686C>G, NM_001346393.1:c.686C>G, NM_001346392.2:c.752C>G, NM_001346392.1:c.752C>G, NM_001346372.2:c.*1524C>G, NM_001346372.1:c.*1524C>G, NM_001346371.2:c.*1436C>G, NM_001346371.1:c.*1436C>G, NM_001346374.2:c.*1524C>G, NM_001346374.1:c.*1524C>G, NM_001346396.2:c.686C>G, NM_001346396.1:c.686C>G, NM_001346390.2:c.752C>G, NM_001346390.1:c.752C>G, NM_001346381.2:c.752C>G, NM_001346381.1:c.752C>G, NM_001346391.2:c.752C>G, NM_001346391.1:c.752C>G, NM_001346376.2:c.752C>G, NM_001346376.1:c.752C>G, NM_001346394.2:c.686C>G, NM_001346394.1:c.686C>G, NM_001346395.2:c.686C>G, NM_001346395.1:c.686C>G, NM_001346382.2:c.752C>G, NM_001346382.1:c.752C>G, NM_001346383.2:c.752C>G, NM_001346383.1:c.752C>G, NM_001346379.2:c.752C>G, NM_001346379.1:c.752C>G, NM_001346380.2:c.752C>G, NM_001346380.1:c.752C>G, NM_001346375.2:c.752C>G, NM_001346375.1:c.752C>G, NM_001346385.2:c.752C>G, NM_001346385.1:c.752C>G, NM_001346389.2:c.752C>G, NM_001346389.1:c.752C>G, NM_001346378.2:c.752C>G, NM_001346378.1:c.752C>G, NM_001346377.2:c.752C>G, NM_001346377.1:c.752C>G, NM_001346388.2:c.752C>G, NM_001346388.1:c.752C>G, NM_001346387.2:c.752C>G, NM_001346387.1:c.752C>G, NM_001346370.2:c.1214C>G, NM_001346370.1:c.1214C>G, NM_001346384.2:c.752C>G, NM_001346384.1:c.752C>G, NM_001346373.2:c.878C>G, NM_001346373.1:c.878C>G, NP_620133.1:p.Ala427Gly, NP_001333315.1:p.Ala251Gly, NP_001333322.1:p.Ala229Gly, NP_001333321.1:p.Ala251Gly, NP_001333325.1:p.Ala229Gly, NP_001333319.1:p.Ala251Gly, NP_001333310.1:p.Ala251Gly, NP_001333320.1:p.Ala251Gly, NP_001333305.1:p.Ala251Gly, NP_001333323.1:p.Ala229Gly, NP_001333324.1:p.Ala229Gly, NP_001333311.1:p.Ala251Gly, NP_001333312.1:p.Ala251Gly, NP_001333308.1:p.Ala251Gly, NP_001333309.1:p.Ala251Gly, NP_001333304.1:p.Ala251Gly, NP_001333314.1:p.Ala251Gly, NP_001333318.1:p.Ala251Gly, NP_001333307.1:p.Ala251Gly, NP_001333306.1:p.Ala251Gly, NP_001333317.1:p.Ala251Gly, NP_001333316.1:p.Ala251Gly, NP_001333299.1:p.Ala405Gly, NP_001333313.1:p.Ala251Gly, NP_001333302.1:p.Ala293Gly

                                        19.

                                        rs1439939653 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:137555593 (GRCh38)
                                          9:140450045 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:137555592:C:A
                                          Gene:
                                          DPH7 (Varview), LOC124902317 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.137555593C>A, NC_000009.11:g.140450045C>A, NG_051807.1:g.28343G>T, NM_138778.5:c.1005G>T, NM_138778.4:c.1005G>T, NM_138778.3:c.1005G>T, NM_138778.2:c.1005G>T, NM_001346386.2:c.477G>T, NM_001346386.1:c.477G>T, NM_001346393.2:c.411G>T, NM_001346393.1:c.411G>T, NM_001346392.2:c.477G>T, NM_001346392.1:c.477G>T, NM_001346372.2:c.*1249G>T, NM_001346372.1:c.*1249G>T, NM_001346371.2:c.*1161G>T, NM_001346371.1:c.*1161G>T, NM_001346374.2:c.*1249G>T, NM_001346374.1:c.*1249G>T, NM_001346396.2:c.411G>T, NM_001346396.1:c.411G>T, NM_001346390.2:c.477G>T, NM_001346390.1:c.477G>T, NM_001346381.2:c.477G>T, NM_001346381.1:c.477G>T, NM_001346391.2:c.477G>T, NM_001346391.1:c.477G>T, NM_001346376.2:c.477G>T, NM_001346376.1:c.477G>T, NM_001346394.2:c.411G>T, NM_001346394.1:c.411G>T, NM_001346395.2:c.411G>T, NM_001346395.1:c.411G>T, NM_001346382.2:c.477G>T, NM_001346382.1:c.477G>T, NM_001346383.2:c.477G>T, NM_001346383.1:c.477G>T, NM_001346379.2:c.477G>T, NM_001346379.1:c.477G>T, NM_001346380.2:c.477G>T, NM_001346380.1:c.477G>T, NM_001346375.2:c.477G>T, NM_001346375.1:c.477G>T, NM_001346385.2:c.477G>T, NM_001346385.1:c.477G>T, NM_001346389.2:c.477G>T, NM_001346389.1:c.477G>T, NM_001346378.2:c.477G>T, NM_001346378.1:c.477G>T, NM_001346377.2:c.477G>T, NM_001346377.1:c.477G>T, NM_001346388.2:c.477G>T, NM_001346388.1:c.477G>T, NM_001346387.2:c.477G>T, NM_001346387.1:c.477G>T, NM_001346370.2:c.939G>T, NM_001346370.1:c.939G>T, NM_001346384.2:c.477G>T, NM_001346384.1:c.477G>T, NM_001346373.2:c.603G>T, NM_001346373.1:c.603G>T

                                          20.

                                          rs1435096573 [Homo sapiens]
                                            Variant type:
                                            SNV
                                            Alleles:
                                            A>G [Show Flanks]
                                            Chromosome:
                                            9:137555431 (GRCh38)
                                            9:140449883 (GRCh37)
                                            Canonical SPDI:
                                            NC_000009.12:137555430:A:G
                                            Gene:
                                            DPH7 (Varview), LOC124902317 (Varview)
                                            Functional Consequence:
                                            upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,3_prime_UTR_variant
                                            Validated:
                                            by frequency
                                            MAF:
                                            G=0.000004/1 (GnomAD_exomes)
                                            HGVS:
                                            NC_000009.12:g.137555431A>G, NC_000009.11:g.140449883A>G, NG_051807.1:g.28505T>C, NM_138778.5:c.1167T>C, NM_138778.4:c.1167T>C, NM_138778.3:c.1167T>C, NM_138778.2:c.1167T>C, NM_001346386.2:c.639T>C, NM_001346386.1:c.639T>C, NM_001346393.2:c.573T>C, NM_001346393.1:c.573T>C, NM_001346392.2:c.639T>C, NM_001346392.1:c.639T>C, NM_001346372.2:c.*1411T>C, NM_001346372.1:c.*1411T>C, NM_001346371.2:c.*1323T>C, NM_001346371.1:c.*1323T>C, NM_001346374.2:c.*1411T>C, NM_001346374.1:c.*1411T>C, NM_001346396.2:c.573T>C, NM_001346396.1:c.573T>C, NM_001346390.2:c.639T>C, NM_001346390.1:c.639T>C, NM_001346381.2:c.639T>C, NM_001346381.1:c.639T>C, NM_001346391.2:c.639T>C, NM_001346391.1:c.639T>C, NM_001346376.2:c.639T>C, NM_001346376.1:c.639T>C, NM_001346394.2:c.573T>C, NM_001346394.1:c.573T>C, NM_001346395.2:c.573T>C, NM_001346395.1:c.573T>C, NM_001346382.2:c.639T>C, NM_001346382.1:c.639T>C, NM_001346383.2:c.639T>C, NM_001346383.1:c.639T>C, NM_001346379.2:c.639T>C, NM_001346379.1:c.639T>C, NM_001346380.2:c.639T>C, NM_001346380.1:c.639T>C, NM_001346375.2:c.639T>C, NM_001346375.1:c.639T>C, NM_001346385.2:c.639T>C, NM_001346385.1:c.639T>C, NM_001346389.2:c.639T>C, NM_001346389.1:c.639T>C, NM_001346378.2:c.639T>C, NM_001346378.1:c.639T>C, NM_001346377.2:c.639T>C, NM_001346377.1:c.639T>C, NM_001346388.2:c.639T>C, NM_001346388.1:c.639T>C, NM_001346387.2:c.639T>C, NM_001346387.1:c.639T>C, NM_001346370.2:c.1101T>C, NM_001346370.1:c.1101T>C, NM_001346384.2:c.639T>C, NM_001346384.1:c.639T>C, NM_001346373.2:c.765T>C, NM_001346373.1:c.765T>C

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