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Items: 1 to 20 of 483

1.

rs1490566748 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    6:13228052 (GRCh38)
    6:13228284 (GRCh37)
    Canonical SPDI:
    NC_000006.12:13228051:C:A,NC_000006.12:13228051:C:T
    Gene:
    PHACTR1 (Varview), LOC105374933 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.13228052C>A, NC_000006.12:g.13228052C>T, NC_000006.11:g.13228284C>A, NC_000006.11:g.13228284C>T, NM_030948.6:c.1223C>A, NM_030948.6:c.1223C>T, NM_030948.5:c.1223C>A, NM_030948.5:c.1223C>T, NM_030948.4:c.1223C>A, NM_030948.4:c.1223C>T, NM_030948.3:c.1223C>A, NM_030948.3:c.1223C>T, NM_030948.2:c.1223C>A, NM_030948.2:c.1223C>T, XM_005248934.4:c.1430C>A, XM_005248934.4:c.1430C>T, XM_005248934.3:c.1430C>A, XM_005248934.3:c.1430C>T, XM_005248934.2:c.1430C>A, XM_005248934.2:c.1430C>T, XM_005248934.1:c.1430C>A, XM_005248934.1:c.1430C>T, NM_001322314.4:c.1433C>A, NM_001322314.4:c.1433C>T, NM_001322314.3:c.1433C>A, NM_001322314.3:c.1433C>T, NM_001322314.2:c.1433C>A, NM_001322314.2:c.1433C>T, NM_001322314.1:c.1433C>A, NM_001322314.1:c.1433C>T, NM_001242648.4:c.1223C>A, NM_001242648.4:c.1223C>T, NM_001242648.3:c.1223C>A, NM_001242648.3:c.1223C>T, NM_001242648.2:c.1223C>A, NM_001242648.2:c.1223C>T, NM_001242648.1:c.1223C>A, NM_001242648.1:c.1223C>T, XM_017010459.3:c.1223C>A, XM_017010459.3:c.1223C>T, XM_017010459.2:c.1223C>A, XM_017010459.2:c.1223C>T, XM_017010459.1:c.1223C>A, XM_017010459.1:c.1223C>T, NM_001322312.3:c.947C>A, NM_001322312.3:c.947C>T, NM_001322312.2:c.947C>A, NM_001322312.2:c.947C>T, NM_001322312.1:c.947C>A, NM_001322312.1:c.947C>T, XM_017010458.3:c.1226C>A, XM_017010458.3:c.1226C>T, XM_017010458.2:c.1226C>A, XM_017010458.2:c.1226C>T, XM_017010458.1:c.1226C>A, XM_017010458.1:c.1226C>T, XM_017010464.3:c.1226C>A, XM_017010464.3:c.1226C>T, XM_017010464.2:c.1226C>A, XM_017010464.2:c.1226C>T, XM_017010464.1:c.1226C>A, XM_017010464.1:c.1226C>T, NM_001322309.3:c.1223C>A, NM_001322309.3:c.1223C>T, NM_001322309.2:c.1223C>A, NM_001322309.2:c.1223C>T, NM_001322309.1:c.1223C>A, NM_001322309.1:c.1223C>T, NM_001322308.3:c.1223C>A, NM_001322308.3:c.1223C>T, NM_001322308.2:c.1223C>A, NM_001322308.2:c.1223C>T, NM_001322308.1:c.1223C>A, NM_001322308.1:c.1223C>T, NM_001374581.2:c.1223C>A, NM_001374581.2:c.1223C>T, NM_001374581.1:c.1223C>A, NM_001374581.1:c.1223C>T, NM_001322313.2:c.1154C>A, NM_001322313.2:c.1154C>T, NM_001322313.1:c.1154C>A, NM_001322313.1:c.1154C>T, NM_001374583.2:c.947C>A, NM_001374583.2:c.947C>T, NM_001374583.1:c.947C>A, NM_001374583.1:c.947C>T, NM_001322310.2:c.1430C>A, NM_001322310.2:c.1430C>T, NM_001322310.1:c.1430C>A, NM_001322310.1:c.1430C>T, NM_001322311.2:c.947C>A, NM_001322311.2:c.947C>T, NM_001322311.1:c.947C>A, NM_001322311.1:c.947C>T, XR_007059456.1:n.1521G>T, XR_007059456.1:n.1521G>A, XM_047418373.1:c.1430C>A, XM_047418373.1:c.1430C>T, XM_047418374.1:c.1430C>A, XM_047418374.1:c.1430C>T, XM_047418372.1:c.1430C>A, XM_047418372.1:c.1430C>T, XM_047418375.1:c.1154C>A, XM_047418375.1:c.1154C>T, NM_001374582.1:c.1430C>A, NM_001374582.1:c.1430C>T, NP_112210.1:p.Ser408Ter, NP_112210.1:p.Ser408Leu, XP_005248991.1:p.Ser477Ter, XP_005248991.1:p.Ser477Leu, NP_001309243.1:p.Ser478Ter, NP_001309243.1:p.Ser478Leu, NP_001229577.1:p.Ser408Ter, NP_001229577.1:p.Ser408Leu, XP_016865948.1:p.Ser408Ter, XP_016865948.1:p.Ser408Leu, NP_001309241.1:p.Ser316Ter, NP_001309241.1:p.Ser316Leu, XP_016865947.1:p.Ser409Ter, XP_016865947.1:p.Ser409Leu, XP_016865953.1:p.Ser409Ter, XP_016865953.1:p.Ser409Leu, NP_001309238.1:p.Ser408Ter, NP_001309238.1:p.Ser408Leu, NP_001309237.1:p.Ser408Ter, NP_001309237.1:p.Ser408Leu, NP_001361510.1:p.Ser408Ter, NP_001361510.1:p.Ser408Leu, NP_001309242.1:p.Ser385Ter, NP_001309242.1:p.Ser385Leu, NP_001361512.1:p.Ser316Ter, NP_001361512.1:p.Ser316Leu, NP_001309239.1:p.Ser477Ter, NP_001309239.1:p.Ser477Leu, NP_001309240.1:p.Ser316Ter, NP_001309240.1:p.Ser316Leu, XP_047274329.1:p.Ser477Ter, XP_047274329.1:p.Ser477Leu, XP_047274330.1:p.Ser477Ter, XP_047274330.1:p.Ser477Leu, XP_047274328.1:p.Ser477Ter, XP_047274328.1:p.Ser477Leu, XP_047274331.1:p.Ser385Ter, XP_047274331.1:p.Ser385Leu, NP_001361511.1:p.Ser477Ter, NP_001361511.1:p.Ser477Leu

    2.

    rs1489320810 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:13160253 (GRCh38)
      6:13160485 (GRCh37)
      Canonical SPDI:
      NC_000006.12:13160252:G:A
      Gene:
      PHACTR1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.13160253G>A, NC_000006.11:g.13160485G>A, NW_013171803.1:g.63455G>A, NM_030948.6:c.465G>A, NM_030948.5:c.465G>A, NM_030948.4:c.465G>A, NM_030948.3:c.465G>A, NM_030948.2:c.465G>A, XM_005248934.4:c.465G>A, XM_005248934.3:c.465G>A, XM_005248934.2:c.465G>A, XM_005248934.1:c.465G>A, NM_001322314.4:c.468G>A, NM_001322314.3:c.468G>A, NM_001322314.2:c.468G>A, NM_001322314.1:c.468G>A, NM_001242648.4:c.465G>A, NM_001242648.3:c.465G>A, NM_001242648.2:c.465G>A, NM_001242648.1:c.465G>A, XM_017010459.3:c.465G>A, XM_017010459.2:c.465G>A, XM_017010459.1:c.465G>A, NM_001322312.3:c.189G>A, NM_001322312.2:c.189G>A, NM_001322312.1:c.189G>A, XM_017010458.3:c.468G>A, XM_017010458.2:c.468G>A, XM_017010458.1:c.468G>A, XM_017010464.3:c.468G>A, XM_017010464.2:c.468G>A, XM_017010464.1:c.468G>A, NM_001322309.3:c.465G>A, NM_001322309.2:c.465G>A, NM_001322309.1:c.465G>A, NM_001322308.3:c.465G>A, NM_001322308.2:c.465G>A, NM_001322308.1:c.465G>A, NM_001374581.2:c.465G>A, NM_001374581.1:c.465G>A, NM_001322313.2:c.189G>A, NM_001322313.1:c.189G>A, NM_001374583.2:c.189G>A, NM_001374583.1:c.189G>A, NM_001322310.2:c.465G>A, NM_001322310.1:c.465G>A, NM_001322311.2:c.189G>A, NM_001322311.1:c.189G>A, XM_047418373.1:c.465G>A, XM_047418374.1:c.465G>A, XM_047418372.1:c.465G>A, XM_047418375.1:c.189G>A, NM_001374582.1:c.465G>A

      3.

      rs1488032191 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        6:12718815 (GRCh38)
        6:12719047 (GRCh37)
        Canonical SPDI:
        NC_000006.12:12718814:C:G
        Gene:
        PHACTR1 (Varview), LOC107984015 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
        Validated:
        by frequency
        MAF:
        G=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.12718815C>G, NC_000006.11:g.12719047C>G, NM_030948.6:c.71C>G, NM_030948.5:c.71C>G, NM_030948.4:c.71C>G, NM_030948.3:c.71C>G, NM_030948.2:c.71C>G, XM_005248934.4:c.71C>G, XM_005248934.3:c.71C>G, XM_005248934.2:c.71C>G, XM_005248934.1:c.71C>G, NM_001242648.4:c.71C>G, NM_001242648.3:c.71C>G, NM_001242648.2:c.71C>G, NM_001242648.1:c.71C>G, XM_017010459.3:c.71C>G, XM_017010459.2:c.71C>G, XM_017010459.1:c.71C>G, NM_001322309.3:c.71C>G, NM_001322309.2:c.71C>G, NM_001322309.1:c.71C>G, NM_001322308.3:c.71C>G, NM_001322308.2:c.71C>G, NM_001322308.1:c.71C>G, NM_001374581.2:c.71C>G, NM_001374581.1:c.71C>G, NM_001322310.2:c.71C>G, NM_001322310.1:c.71C>G, XM_047418373.1:c.71C>G, XM_047418374.1:c.71C>G, XM_047418372.1:c.71C>G, NM_001374582.1:c.71C>G, NM_001374584.1:c.71C>G, NP_112210.1:p.Ala24Gly, XP_005248991.1:p.Ala24Gly, NP_001229577.1:p.Ala24Gly, XP_016865948.1:p.Ala24Gly, NP_001309238.1:p.Ala24Gly, NP_001309237.1:p.Ala24Gly, NP_001361510.1:p.Ala24Gly, NP_001309239.1:p.Ala24Gly, XP_047274329.1:p.Ala24Gly, XP_047274330.1:p.Ala24Gly, XP_047274328.1:p.Ala24Gly, NP_001361511.1:p.Ala24Gly, NP_001361513.1:p.Ala24Gly

        4.

        rs1484704808 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:13053491 (GRCh38)
          6:13053723 (GRCh37)
          Canonical SPDI:
          NC_000006.12:13053490:G:A
          Gene:
          PHACTR1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.13053491G>A, NC_000006.11:g.13053723G>A, NM_030948.6:c.377G>A, NM_030948.5:c.377G>A, NM_030948.4:c.377G>A, NM_030948.3:c.377G>A, NM_030948.2:c.377G>A, XM_005248934.4:c.377G>A, XM_005248934.3:c.377G>A, XM_005248934.2:c.377G>A, XM_005248934.1:c.377G>A, NM_001322314.4:c.380G>A, NM_001322314.3:c.380G>A, NM_001322314.2:c.380G>A, NM_001322314.1:c.380G>A, NM_001242648.4:c.377G>A, NM_001242648.3:c.377G>A, NM_001242648.2:c.377G>A, NM_001242648.1:c.377G>A, XM_017010459.3:c.377G>A, XM_017010459.2:c.377G>A, XM_017010459.1:c.377G>A, NM_001322312.3:c.101G>A, NM_001322312.2:c.101G>A, NM_001322312.1:c.101G>A, XM_017010458.3:c.380G>A, XM_017010458.2:c.380G>A, XM_017010458.1:c.380G>A, XM_017010464.3:c.380G>A, XM_017010464.2:c.380G>A, XM_017010464.1:c.380G>A, NM_001322309.3:c.377G>A, NM_001322309.2:c.377G>A, NM_001322309.1:c.377G>A, NM_001322308.3:c.377G>A, NM_001322308.2:c.377G>A, NM_001322308.1:c.377G>A, NM_001374581.2:c.377G>A, NM_001374581.1:c.377G>A, NM_001322313.2:c.101G>A, NM_001322313.1:c.101G>A, NM_001374583.2:c.101G>A, NM_001374583.1:c.101G>A, NM_001322310.2:c.377G>A, NM_001322310.1:c.377G>A, NM_001322311.2:c.101G>A, NM_001322311.1:c.101G>A, XM_047418373.1:c.377G>A, XM_047418374.1:c.377G>A, XM_047418372.1:c.377G>A, XM_047418375.1:c.101G>A, NM_001374582.1:c.377G>A, NP_112210.1:p.Arg126Lys, XP_005248991.1:p.Arg126Lys, NP_001309243.1:p.Arg127Lys, NP_001229577.1:p.Arg126Lys, XP_016865948.1:p.Arg126Lys, NP_001309241.1:p.Arg34Lys, XP_016865947.1:p.Arg127Lys, XP_016865953.1:p.Arg127Lys, NP_001309238.1:p.Arg126Lys, NP_001309237.1:p.Arg126Lys, NP_001361510.1:p.Arg126Lys, NP_001309242.1:p.Arg34Lys, NP_001361512.1:p.Arg34Lys, NP_001309239.1:p.Arg126Lys, NP_001309240.1:p.Arg34Lys, XP_047274329.1:p.Arg126Lys, XP_047274330.1:p.Arg126Lys, XP_047274328.1:p.Arg126Lys, XP_047274331.1:p.Arg34Lys, NP_001361511.1:p.Arg126Lys

          5.

          rs1484104569 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:13160262 (GRCh38)
            6:13160494 (GRCh37)
            Canonical SPDI:
            NC_000006.12:13160261:C:T
            Gene:
            PHACTR1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (GnomAD_exomes)
            T=0.000011/3 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000006.12:g.13160262C>T, NC_000006.11:g.13160494C>T, NW_013171803.1:g.63464C>T, NM_030948.6:c.474C>T, NM_030948.5:c.474C>T, NM_030948.4:c.474C>T, NM_030948.3:c.474C>T, NM_030948.2:c.474C>T, XM_005248934.4:c.474C>T, XM_005248934.3:c.474C>T, XM_005248934.2:c.474C>T, XM_005248934.1:c.474C>T, NM_001322314.4:c.477C>T, NM_001322314.3:c.477C>T, NM_001322314.2:c.477C>T, NM_001322314.1:c.477C>T, NM_001242648.4:c.474C>T, NM_001242648.3:c.474C>T, NM_001242648.2:c.474C>T, NM_001242648.1:c.474C>T, XM_017010459.3:c.474C>T, XM_017010459.2:c.474C>T, XM_017010459.1:c.474C>T, NM_001322312.3:c.198C>T, NM_001322312.2:c.198C>T, NM_001322312.1:c.198C>T, XM_017010458.3:c.477C>T, XM_017010458.2:c.477C>T, XM_017010458.1:c.477C>T, XM_017010464.3:c.477C>T, XM_017010464.2:c.477C>T, XM_017010464.1:c.477C>T, NM_001322309.3:c.474C>T, NM_001322309.2:c.474C>T, NM_001322309.1:c.474C>T, NM_001322308.3:c.474C>T, NM_001322308.2:c.474C>T, NM_001322308.1:c.474C>T, NM_001374581.2:c.474C>T, NM_001374581.1:c.474C>T, NM_001322313.2:c.198C>T, NM_001322313.1:c.198C>T, NM_001374583.2:c.198C>T, NM_001374583.1:c.198C>T, NM_001322310.2:c.474C>T, NM_001322310.1:c.474C>T, NM_001322311.2:c.198C>T, NM_001322311.1:c.198C>T, XM_047418373.1:c.474C>T, XM_047418374.1:c.474C>T, XM_047418372.1:c.474C>T, XM_047418375.1:c.198C>T, NM_001374582.1:c.474C>T

            6.

            rs1479510702 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:13228063 (GRCh38)
              6:13228295 (GRCh37)
              Canonical SPDI:
              NC_000006.12:13228062:A:G
              Gene:
              PHACTR1 (Varview), LOC105374933 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
              HGVS:
              NC_000006.12:g.13228063A>G, NC_000006.11:g.13228295A>G, NM_030948.6:c.1234A>G, NM_030948.5:c.1234A>G, NM_030948.4:c.1234A>G, NM_030948.3:c.1234A>G, NM_030948.2:c.1234A>G, XM_005248934.4:c.1441A>G, XM_005248934.3:c.1441A>G, XM_005248934.2:c.1441A>G, XM_005248934.1:c.1441A>G, NM_001322314.4:c.1444A>G, NM_001322314.3:c.1444A>G, NM_001322314.2:c.1444A>G, NM_001322314.1:c.1444A>G, NM_001242648.4:c.1234A>G, NM_001242648.3:c.1234A>G, NM_001242648.2:c.1234A>G, NM_001242648.1:c.1234A>G, XM_017010459.3:c.1234A>G, XM_017010459.2:c.1234A>G, XM_017010459.1:c.1234A>G, NM_001322312.3:c.958A>G, NM_001322312.2:c.958A>G, NM_001322312.1:c.958A>G, XM_017010458.3:c.1237A>G, XM_017010458.2:c.1237A>G, XM_017010458.1:c.1237A>G, XM_017010464.3:c.1237A>G, XM_017010464.2:c.1237A>G, XM_017010464.1:c.1237A>G, NM_001322309.3:c.1234A>G, NM_001322309.2:c.1234A>G, NM_001322309.1:c.1234A>G, NM_001322308.3:c.1234A>G, NM_001322308.2:c.1234A>G, NM_001322308.1:c.1234A>G, NM_001374581.2:c.1234A>G, NM_001374581.1:c.1234A>G, NM_001322313.2:c.1165A>G, NM_001322313.1:c.1165A>G, NM_001374583.2:c.958A>G, NM_001374583.1:c.958A>G, NM_001322310.2:c.1441A>G, NM_001322310.1:c.1441A>G, NM_001322311.2:c.958A>G, NM_001322311.1:c.958A>G, XR_007059456.1:n.1510T>C, XM_047418373.1:c.1441A>G, XM_047418374.1:c.1441A>G, XM_047418372.1:c.1441A>G, XM_047418375.1:c.1165A>G, NM_001374582.1:c.1441A>G, NP_112210.1:p.Ser412Gly, XP_005248991.1:p.Ser481Gly, NP_001309243.1:p.Ser482Gly, NP_001229577.1:p.Ser412Gly, XP_016865948.1:p.Ser412Gly, NP_001309241.1:p.Ser320Gly, XP_016865947.1:p.Ser413Gly, XP_016865953.1:p.Ser413Gly, NP_001309238.1:p.Ser412Gly, NP_001309237.1:p.Ser412Gly, NP_001361510.1:p.Ser412Gly, NP_001309242.1:p.Ser389Gly, NP_001361512.1:p.Ser320Gly, NP_001309239.1:p.Ser481Gly, NP_001309240.1:p.Ser320Gly, XP_047274329.1:p.Ser481Gly, XP_047274330.1:p.Ser481Gly, XP_047274328.1:p.Ser481Gly, XP_047274331.1:p.Ser389Gly, NP_001361511.1:p.Ser481Gly

              7.

              rs1479492905 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:13182546 (GRCh38)
                6:13182778 (GRCh37)
                Canonical SPDI:
                NC_000006.12:13182545:A:G
                Gene:
                PHACTR1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                NC_000006.12:g.13182546A>G, NC_000006.11:g.13182778A>G, NM_030948.6:c.524A>G, NM_030948.5:c.524A>G, NM_030948.4:c.524A>G, NM_030948.3:c.524A>G, NM_030948.2:c.524A>G, XM_005248934.4:c.524A>G, XM_005248934.3:c.524A>G, XM_005248934.2:c.524A>G, XM_005248934.1:c.524A>G, NM_001322314.4:c.527A>G, NM_001322314.3:c.527A>G, NM_001322314.2:c.527A>G, NM_001322314.1:c.527A>G, NM_001242648.4:c.524A>G, NM_001242648.3:c.524A>G, NM_001242648.2:c.524A>G, NM_001242648.1:c.524A>G, XM_017010459.3:c.524A>G, XM_017010459.2:c.524A>G, XM_017010459.1:c.524A>G, NM_001322312.3:c.248A>G, NM_001322312.2:c.248A>G, NM_001322312.1:c.248A>G, XM_017010458.3:c.527A>G, XM_017010458.2:c.527A>G, XM_017010458.1:c.527A>G, XM_017010464.3:c.527A>G, XM_017010464.2:c.527A>G, XM_017010464.1:c.527A>G, NM_001322309.3:c.524A>G, NM_001322309.2:c.524A>G, NM_001322309.1:c.524A>G, NM_001322308.3:c.524A>G, NM_001322308.2:c.524A>G, NM_001322308.1:c.524A>G, NM_001374581.2:c.524A>G, NM_001374581.1:c.524A>G, NM_001322313.2:c.248A>G, NM_001322313.1:c.248A>G, NM_001374583.2:c.248A>G, NM_001374583.1:c.248A>G, NM_001322310.2:c.524A>G, NM_001322310.1:c.524A>G, NM_001322311.2:c.248A>G, NM_001322311.1:c.248A>G, XM_047418373.1:c.524A>G, XM_047418374.1:c.524A>G, XM_047418372.1:c.524A>G, XM_047418375.1:c.248A>G, NM_001374582.1:c.524A>G, NP_112210.1:p.Glu175Gly, XP_005248991.1:p.Glu175Gly, NP_001309243.1:p.Glu176Gly, NP_001229577.1:p.Glu175Gly, XP_016865948.1:p.Glu175Gly, NP_001309241.1:p.Glu83Gly, XP_016865947.1:p.Glu176Gly, XP_016865953.1:p.Glu176Gly, NP_001309238.1:p.Glu175Gly, NP_001309237.1:p.Glu175Gly, NP_001361510.1:p.Glu175Gly, NP_001309242.1:p.Glu83Gly, NP_001361512.1:p.Glu83Gly, NP_001309239.1:p.Glu175Gly, NP_001309240.1:p.Glu83Gly, XP_047274329.1:p.Glu175Gly, XP_047274330.1:p.Glu175Gly, XP_047274328.1:p.Glu175Gly, XP_047274331.1:p.Glu83Gly, NP_001361511.1:p.Glu175Gly

                8.

                rs1476818978 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  6:13205975 (GRCh38)
                  6:13206207 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:13205974:C:A,NC_000006.12:13205974:C:T
                  Gene:
                  PHACTR1 (Varview)
                  Functional Consequence:
                  missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000006.12:g.13205975C>A, NC_000006.12:g.13205975C>T, NC_000006.11:g.13206207C>A, NC_000006.11:g.13206207C>T, NM_030948.6:c.825C>A, NM_030948.6:c.825C>T, NM_030948.5:c.825C>A, NM_030948.5:c.825C>T, NM_030948.4:c.825C>A, NM_030948.4:c.825C>T, NM_030948.3:c.825C>A, NM_030948.3:c.825C>T, NM_030948.2:c.825C>A, NM_030948.2:c.825C>T, XM_005248934.4:c.1032C>A, XM_005248934.4:c.1032C>T, XM_005248934.3:c.1032C>A, XM_005248934.3:c.1032C>T, XM_005248934.2:c.1032C>A, XM_005248934.2:c.1032C>T, XM_005248934.1:c.1032C>A, XM_005248934.1:c.1032C>T, NM_001322314.4:c.1035C>A, NM_001322314.4:c.1035C>T, NM_001322314.3:c.1035C>A, NM_001322314.3:c.1035C>T, NM_001322314.2:c.1035C>A, NM_001322314.2:c.1035C>T, NM_001322314.1:c.1035C>A, NM_001322314.1:c.1035C>T, NM_001242648.4:c.825C>A, NM_001242648.4:c.825C>T, NM_001242648.3:c.825C>A, NM_001242648.3:c.825C>T, NM_001242648.2:c.825C>A, NM_001242648.2:c.825C>T, NM_001242648.1:c.825C>A, NM_001242648.1:c.825C>T, XM_017010459.3:c.825C>A, XM_017010459.3:c.825C>T, XM_017010459.2:c.825C>A, XM_017010459.2:c.825C>T, XM_017010459.1:c.825C>A, XM_017010459.1:c.825C>T, NM_001322312.3:c.549C>A, NM_001322312.3:c.549C>T, NM_001322312.2:c.549C>A, NM_001322312.2:c.549C>T, NM_001322312.1:c.549C>A, NM_001322312.1:c.549C>T, XM_017010458.3:c.828C>A, XM_017010458.3:c.828C>T, XM_017010458.2:c.828C>A, XM_017010458.2:c.828C>T, XM_017010458.1:c.828C>A, XM_017010458.1:c.828C>T, XM_017010464.3:c.828C>A, XM_017010464.3:c.828C>T, XM_017010464.2:c.828C>A, XM_017010464.2:c.828C>T, XM_017010464.1:c.828C>A, XM_017010464.1:c.828C>T, NM_001322309.3:c.825C>A, NM_001322309.3:c.825C>T, NM_001322309.2:c.825C>A, NM_001322309.2:c.825C>T, NM_001322309.1:c.825C>A, NM_001322309.1:c.825C>T, NM_001322308.3:c.825C>A, NM_001322308.3:c.825C>T, NM_001322308.2:c.825C>A, NM_001322308.2:c.825C>T, NM_001322308.1:c.825C>A, NM_001322308.1:c.825C>T, NM_001374581.2:c.825C>A, NM_001374581.2:c.825C>T, NM_001374581.1:c.825C>A, NM_001374581.1:c.825C>T, NM_001322313.2:c.756C>A, NM_001322313.2:c.756C>T, NM_001322313.1:c.756C>A, NM_001322313.1:c.756C>T, NM_001374583.2:c.549C>A, NM_001374583.2:c.549C>T, NM_001374583.1:c.549C>A, NM_001374583.1:c.549C>T, NM_001322310.2:c.1032C>A, NM_001322310.2:c.1032C>T, NM_001322310.1:c.1032C>A, NM_001322310.1:c.1032C>T, NM_001322311.2:c.549C>A, NM_001322311.2:c.549C>T, NM_001322311.1:c.549C>A, NM_001322311.1:c.549C>T, XM_047418373.1:c.1032C>A, XM_047418373.1:c.1032C>T, XM_047418374.1:c.1032C>A, XM_047418374.1:c.1032C>T, XM_047418372.1:c.1032C>A, XM_047418372.1:c.1032C>T, XM_047418375.1:c.756C>A, XM_047418375.1:c.756C>T, NM_001374582.1:c.1032C>A, NM_001374582.1:c.1032C>T, NP_112210.1:p.His275Gln, XP_005248991.1:p.His344Gln, NP_001309243.1:p.His345Gln, NP_001229577.1:p.His275Gln, XP_016865948.1:p.His275Gln, NP_001309241.1:p.His183Gln, XP_016865947.1:p.His276Gln, XP_016865953.1:p.His276Gln, NP_001309238.1:p.His275Gln, NP_001309237.1:p.His275Gln, NP_001361510.1:p.His275Gln, NP_001309242.1:p.His252Gln, NP_001361512.1:p.His183Gln, NP_001309239.1:p.His344Gln, NP_001309240.1:p.His183Gln, XP_047274329.1:p.His344Gln, XP_047274330.1:p.His344Gln, XP_047274328.1:p.His344Gln, XP_047274331.1:p.His252Gln, NP_001361511.1:p.His344Gln

                  9.

                  rs1476726690 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:13182570 (GRCh38)
                    6:13182802 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:13182569:C:T
                    Gene:
                    PHACTR1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.13182570C>T, NC_000006.11:g.13182802C>T, NM_030948.6:c.548C>T, NM_030948.5:c.548C>T, NM_030948.4:c.548C>T, NM_030948.3:c.548C>T, NM_030948.2:c.548C>T, XM_005248934.4:c.548C>T, XM_005248934.3:c.548C>T, XM_005248934.2:c.548C>T, XM_005248934.1:c.548C>T, NM_001322314.4:c.551C>T, NM_001322314.3:c.551C>T, NM_001322314.2:c.551C>T, NM_001322314.1:c.551C>T, NM_001242648.4:c.548C>T, NM_001242648.3:c.548C>T, NM_001242648.2:c.548C>T, NM_001242648.1:c.548C>T, XM_017010459.3:c.548C>T, XM_017010459.2:c.548C>T, XM_017010459.1:c.548C>T, NM_001322312.3:c.272C>T, NM_001322312.2:c.272C>T, NM_001322312.1:c.272C>T, XM_017010458.3:c.551C>T, XM_017010458.2:c.551C>T, XM_017010458.1:c.551C>T, XM_017010464.3:c.551C>T, XM_017010464.2:c.551C>T, XM_017010464.1:c.551C>T, NM_001322309.3:c.548C>T, NM_001322309.2:c.548C>T, NM_001322309.1:c.548C>T, NM_001322308.3:c.548C>T, NM_001322308.2:c.548C>T, NM_001322308.1:c.548C>T, NM_001374581.2:c.548C>T, NM_001374581.1:c.548C>T, NM_001322313.2:c.272C>T, NM_001322313.1:c.272C>T, NM_001374583.2:c.272C>T, NM_001374583.1:c.272C>T, NM_001322310.2:c.548C>T, NM_001322310.1:c.548C>T, NM_001322311.2:c.272C>T, NM_001322311.1:c.272C>T, XM_047418373.1:c.548C>T, XM_047418374.1:c.548C>T, XM_047418372.1:c.548C>T, XM_047418375.1:c.272C>T, NM_001374582.1:c.548C>T, NP_112210.1:p.Ser183Phe, XP_005248991.1:p.Ser183Phe, NP_001309243.1:p.Ser184Phe, NP_001229577.1:p.Ser183Phe, XP_016865948.1:p.Ser183Phe, NP_001309241.1:p.Ser91Phe, XP_016865947.1:p.Ser184Phe, XP_016865953.1:p.Ser184Phe, NP_001309238.1:p.Ser183Phe, NP_001309237.1:p.Ser183Phe, NP_001361510.1:p.Ser183Phe, NP_001309242.1:p.Ser91Phe, NP_001361512.1:p.Ser91Phe, NP_001309239.1:p.Ser183Phe, NP_001309240.1:p.Ser91Phe, XP_047274329.1:p.Ser183Phe, XP_047274330.1:p.Ser183Phe, XP_047274328.1:p.Ser183Phe, XP_047274331.1:p.Ser91Phe, NP_001361511.1:p.Ser183Phe

                    10.

                    rs1476178555 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:13230113 (GRCh38)
                      6:13230345 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:13230112:G:A
                      Gene:
                      PHACTR1 (Varview), LOC105374933 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000031/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000006.12:g.13230113G>A, NC_000006.11:g.13230345G>A, NM_030948.6:c.1311G>A, NM_030948.5:c.1311G>A, NM_030948.4:c.1311G>A, NM_030948.3:c.1311G>A, NM_030948.2:c.1311G>A, XM_005248934.4:c.1518G>A, XM_005248934.3:c.1518G>A, XM_005248934.2:c.1518G>A, XM_005248934.1:c.1518G>A, NM_001322314.4:c.1521G>A, NM_001322314.3:c.1521G>A, NM_001322314.2:c.1521G>A, NM_001322314.1:c.1521G>A, NM_001242648.4:c.1311G>A, NM_001242648.3:c.1311G>A, NM_001242648.2:c.1311G>A, NM_001242648.1:c.1311G>A, XM_017010459.3:c.1311G>A, XM_017010459.2:c.1311G>A, XM_017010459.1:c.1311G>A, NM_001322312.3:c.1035G>A, NM_001322312.2:c.1035G>A, NM_001322312.1:c.1035G>A, XM_017010458.3:c.1314G>A, XM_017010458.2:c.1314G>A, XM_017010458.1:c.1314G>A, XM_017010464.3:c.1314G>A, XM_017010464.2:c.1314G>A, XM_017010464.1:c.1314G>A, NM_001322309.3:c.1311G>A, NM_001322309.2:c.1311G>A, NM_001322309.1:c.1311G>A, NM_001322308.3:c.1311G>A, NM_001322308.2:c.1311G>A, NM_001322308.1:c.1311G>A, NM_001374581.2:c.1311G>A, NM_001374581.1:c.1311G>A, NM_001322313.2:c.1242G>A, NM_001322313.1:c.1242G>A, NM_001374583.2:c.1035G>A, NM_001374583.1:c.1035G>A, NM_001322310.2:c.1518G>A, NM_001322310.1:c.1518G>A, NM_001322311.2:c.1035G>A, NM_001322311.1:c.1035G>A, XM_047418373.1:c.1518G>A, XM_047418374.1:c.1518G>A, XM_047418372.1:c.1518G>A, XM_047418375.1:c.1242G>A, NM_001374582.1:c.1518G>A

                      11.

                      rs1475314942 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:13205979 (GRCh38)
                        6:13206211 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:13205978:A:G
                        Gene:
                        PHACTR1 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000006.12:g.13205979A>G, NC_000006.11:g.13206211A>G, NM_030948.6:c.829A>G, NM_030948.5:c.829A>G, NM_030948.4:c.829A>G, NM_030948.3:c.829A>G, NM_030948.2:c.829A>G, XM_005248934.4:c.1036A>G, XM_005248934.3:c.1036A>G, XM_005248934.2:c.1036A>G, XM_005248934.1:c.1036A>G, NM_001322314.4:c.1039A>G, NM_001322314.3:c.1039A>G, NM_001322314.2:c.1039A>G, NM_001322314.1:c.1039A>G, NM_001242648.4:c.829A>G, NM_001242648.3:c.829A>G, NM_001242648.2:c.829A>G, NM_001242648.1:c.829A>G, XM_017010459.3:c.829A>G, XM_017010459.2:c.829A>G, XM_017010459.1:c.829A>G, NM_001322312.3:c.553A>G, NM_001322312.2:c.553A>G, NM_001322312.1:c.553A>G, XM_017010458.3:c.832A>G, XM_017010458.2:c.832A>G, XM_017010458.1:c.832A>G, XM_017010464.3:c.832A>G, XM_017010464.2:c.832A>G, XM_017010464.1:c.832A>G, NM_001322309.3:c.829A>G, NM_001322309.2:c.829A>G, NM_001322309.1:c.829A>G, NM_001322308.3:c.829A>G, NM_001322308.2:c.829A>G, NM_001322308.1:c.829A>G, NM_001374581.2:c.829A>G, NM_001374581.1:c.829A>G, NM_001322313.2:c.760A>G, NM_001322313.1:c.760A>G, NM_001374583.2:c.553A>G, NM_001374583.1:c.553A>G, NM_001322310.2:c.1036A>G, NM_001322310.1:c.1036A>G, NM_001322311.2:c.553A>G, NM_001322311.1:c.553A>G, XM_047418373.1:c.1036A>G, XM_047418374.1:c.1036A>G, XM_047418372.1:c.1036A>G, XM_047418375.1:c.760A>G, NM_001374582.1:c.1036A>G, NP_112210.1:p.Thr277Ala, XP_005248991.1:p.Thr346Ala, NP_001309243.1:p.Thr347Ala, NP_001229577.1:p.Thr277Ala, XP_016865948.1:p.Thr277Ala, NP_001309241.1:p.Thr185Ala, XP_016865947.1:p.Thr278Ala, XP_016865953.1:p.Thr278Ala, NP_001309238.1:p.Thr277Ala, NP_001309237.1:p.Thr277Ala, NP_001361510.1:p.Thr277Ala, NP_001309242.1:p.Thr254Ala, NP_001361512.1:p.Thr185Ala, NP_001309239.1:p.Thr346Ala, NP_001309240.1:p.Thr185Ala, XP_047274329.1:p.Thr346Ala, XP_047274330.1:p.Thr346Ala, XP_047274328.1:p.Thr346Ala, XP_047274331.1:p.Thr254Ala, NP_001361511.1:p.Thr346Ala

                        12.

                        rs1472066777 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          6:13206043 (GRCh38)
                          6:13206275 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:13206042:C:G
                          Gene:
                          PHACTR1 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.000094/1 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.13206043C>G, NC_000006.11:g.13206275C>G, NM_030948.6:c.893C>G, NM_030948.5:c.893C>G, NM_030948.4:c.893C>G, NM_030948.3:c.893C>G, NM_030948.2:c.893C>G, XM_005248934.4:c.1100C>G, XM_005248934.3:c.1100C>G, XM_005248934.2:c.1100C>G, XM_005248934.1:c.1100C>G, NM_001322314.4:c.1103C>G, NM_001322314.3:c.1103C>G, NM_001322314.2:c.1103C>G, NM_001322314.1:c.1103C>G, NM_001242648.4:c.893C>G, NM_001242648.3:c.893C>G, NM_001242648.2:c.893C>G, NM_001242648.1:c.893C>G, XM_017010459.3:c.893C>G, XM_017010459.2:c.893C>G, XM_017010459.1:c.893C>G, NM_001322312.3:c.617C>G, NM_001322312.2:c.617C>G, NM_001322312.1:c.617C>G, XM_017010458.3:c.896C>G, XM_017010458.2:c.896C>G, XM_017010458.1:c.896C>G, XM_017010464.3:c.896C>G, XM_017010464.2:c.896C>G, XM_017010464.1:c.896C>G, NM_001322309.3:c.893C>G, NM_001322309.2:c.893C>G, NM_001322309.1:c.893C>G, NM_001322308.3:c.893C>G, NM_001322308.2:c.893C>G, NM_001322308.1:c.893C>G, NM_001374581.2:c.893C>G, NM_001374581.1:c.893C>G, NM_001322313.2:c.824C>G, NM_001322313.1:c.824C>G, NM_001374583.2:c.617C>G, NM_001374583.1:c.617C>G, NM_001322310.2:c.1100C>G, NM_001322310.1:c.1100C>G, NM_001322311.2:c.617C>G, NM_001322311.1:c.617C>G, XM_047418373.1:c.1100C>G, XM_047418374.1:c.1100C>G, XM_047418372.1:c.1100C>G, XM_047418375.1:c.824C>G, NM_001374582.1:c.1100C>G, NP_112210.1:p.Ser298Cys, XP_005248991.1:p.Ser367Cys, NP_001309243.1:p.Ser368Cys, NP_001229577.1:p.Ser298Cys, XP_016865948.1:p.Ser298Cys, NP_001309241.1:p.Ser206Cys, XP_016865947.1:p.Ser299Cys, XP_016865953.1:p.Ser299Cys, NP_001309238.1:p.Ser298Cys, NP_001309237.1:p.Ser298Cys, NP_001361510.1:p.Ser298Cys, NP_001309242.1:p.Ser275Cys, NP_001361512.1:p.Ser206Cys, NP_001309239.1:p.Ser367Cys, NP_001309240.1:p.Ser206Cys, XP_047274329.1:p.Ser367Cys, XP_047274330.1:p.Ser367Cys, XP_047274328.1:p.Ser367Cys, XP_047274331.1:p.Ser275Cys, NP_001361511.1:p.Ser367Cys

                          13.

                          rs1472056042 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            6:13182647 (GRCh38)
                            6:13182879 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:13182646:T:C
                            Gene:
                            PHACTR1 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.13182647T>C, NC_000006.11:g.13182879T>C, NM_030948.6:c.625T>C, NM_030948.5:c.625T>C, NM_030948.4:c.625T>C, NM_030948.3:c.625T>C, NM_030948.2:c.625T>C, XM_005248934.4:c.625T>C, XM_005248934.3:c.625T>C, XM_005248934.2:c.625T>C, XM_005248934.1:c.625T>C, NM_001322314.4:c.628T>C, NM_001322314.3:c.628T>C, NM_001322314.2:c.628T>C, NM_001322314.1:c.628T>C, NM_001242648.4:c.625T>C, NM_001242648.3:c.625T>C, NM_001242648.2:c.625T>C, NM_001242648.1:c.625T>C, XM_017010459.3:c.625T>C, XM_017010459.2:c.625T>C, XM_017010459.1:c.625T>C, NM_001322312.3:c.349T>C, NM_001322312.2:c.349T>C, NM_001322312.1:c.349T>C, XM_017010458.3:c.628T>C, XM_017010458.2:c.628T>C, XM_017010458.1:c.628T>C, XM_017010464.3:c.628T>C, XM_017010464.2:c.628T>C, XM_017010464.1:c.628T>C, NM_001322309.3:c.625T>C, NM_001322309.2:c.625T>C, NM_001322309.1:c.625T>C, NM_001322308.3:c.625T>C, NM_001322308.2:c.625T>C, NM_001322308.1:c.625T>C, NM_001374581.2:c.625T>C, NM_001374581.1:c.625T>C, NM_001322313.2:c.349T>C, NM_001322313.1:c.349T>C, NM_001374583.2:c.349T>C, NM_001374583.1:c.349T>C, NM_001322310.2:c.625T>C, NM_001322310.1:c.625T>C, NM_001322311.2:c.349T>C, NM_001322311.1:c.349T>C, XM_047418373.1:c.625T>C, XM_047418374.1:c.625T>C, XM_047418372.1:c.625T>C, XM_047418375.1:c.349T>C, NM_001374582.1:c.625T>C, NP_112210.1:p.Tyr209His, XP_005248991.1:p.Tyr209His, NP_001309243.1:p.Tyr210His, NP_001229577.1:p.Tyr209His, XP_016865948.1:p.Tyr209His, NP_001309241.1:p.Tyr117His, XP_016865947.1:p.Tyr210His, XP_016865953.1:p.Tyr210His, NP_001309238.1:p.Tyr209His, NP_001309237.1:p.Tyr209His, NP_001361510.1:p.Tyr209His, NP_001309242.1:p.Tyr117His, NP_001361512.1:p.Tyr117His, NP_001309239.1:p.Tyr209His, NP_001309240.1:p.Tyr117His, XP_047274329.1:p.Tyr209His, XP_047274330.1:p.Tyr209His, XP_047274328.1:p.Tyr209His, XP_047274331.1:p.Tyr117His, NP_001361511.1:p.Tyr209His

                            14.

                            rs1470795358 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              6:13227905 (GRCh38)
                              6:13228137 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:13227904:T:G
                              Gene:
                              PHACTR1 (Varview), LOC105374933 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.13227905T>G, NC_000006.11:g.13228137T>G, NM_030948.6:c.1076T>G, NM_030948.5:c.1076T>G, NM_030948.4:c.1076T>G, NM_030948.3:c.1076T>G, NM_030948.2:c.1076T>G, XM_005248934.4:c.1283T>G, XM_005248934.3:c.1283T>G, XM_005248934.2:c.1283T>G, XM_005248934.1:c.1283T>G, NM_001322314.4:c.1286T>G, NM_001322314.3:c.1286T>G, NM_001322314.2:c.1286T>G, NM_001322314.1:c.1286T>G, NM_001242648.4:c.1076T>G, NM_001242648.3:c.1076T>G, NM_001242648.2:c.1076T>G, NM_001242648.1:c.1076T>G, XM_017010459.3:c.1076T>G, XM_017010459.2:c.1076T>G, XM_017010459.1:c.1076T>G, NM_001322312.3:c.800T>G, NM_001322312.2:c.800T>G, NM_001322312.1:c.800T>G, XM_017010458.3:c.1079T>G, XM_017010458.2:c.1079T>G, XM_017010458.1:c.1079T>G, XM_017010464.3:c.1079T>G, XM_017010464.2:c.1079T>G, XM_017010464.1:c.1079T>G, NM_001322309.3:c.1076T>G, NM_001322309.2:c.1076T>G, NM_001322309.1:c.1076T>G, NM_001322308.3:c.1076T>G, NM_001322308.2:c.1076T>G, NM_001322308.1:c.1076T>G, NM_001374581.2:c.1076T>G, NM_001374581.1:c.1076T>G, NM_001322313.2:c.1007T>G, NM_001322313.1:c.1007T>G, NM_001374583.2:c.800T>G, NM_001374583.1:c.800T>G, NM_001322310.2:c.1283T>G, NM_001322310.1:c.1283T>G, NM_001322311.2:c.800T>G, NM_001322311.1:c.800T>G, XR_007059456.1:n.1668A>C, XM_047418373.1:c.1283T>G, XM_047418374.1:c.1283T>G, XM_047418372.1:c.1283T>G, XM_047418375.1:c.1007T>G, NM_001374582.1:c.1283T>G, NP_112210.1:p.Leu359Arg, XP_005248991.1:p.Leu428Arg, NP_001309243.1:p.Leu429Arg, NP_001229577.1:p.Leu359Arg, XP_016865948.1:p.Leu359Arg, NP_001309241.1:p.Leu267Arg, XP_016865947.1:p.Leu360Arg, XP_016865953.1:p.Leu360Arg, NP_001309238.1:p.Leu359Arg, NP_001309237.1:p.Leu359Arg, NP_001361510.1:p.Leu359Arg, NP_001309242.1:p.Leu336Arg, NP_001361512.1:p.Leu267Arg, NP_001309239.1:p.Leu428Arg, NP_001309240.1:p.Leu267Arg, XP_047274329.1:p.Leu428Arg, XP_047274330.1:p.Leu428Arg, XP_047274328.1:p.Leu428Arg, XP_047274331.1:p.Leu336Arg, NP_001361511.1:p.Leu428Arg

                              15.

                              rs1470786490 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:13206049 (GRCh38)
                                6:13206281 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:13206048:C:T
                                Gene:
                                PHACTR1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000006.12:g.13206049C>T, NC_000006.11:g.13206281C>T, NM_030948.6:c.899C>T, NM_030948.5:c.899C>T, NM_030948.4:c.899C>T, NM_030948.3:c.899C>T, NM_030948.2:c.899C>T, XM_005248934.4:c.1106C>T, XM_005248934.3:c.1106C>T, XM_005248934.2:c.1106C>T, XM_005248934.1:c.1106C>T, NM_001322314.4:c.1109C>T, NM_001322314.3:c.1109C>T, NM_001322314.2:c.1109C>T, NM_001322314.1:c.1109C>T, NM_001242648.4:c.899C>T, NM_001242648.3:c.899C>T, NM_001242648.2:c.899C>T, NM_001242648.1:c.899C>T, XM_017010459.3:c.899C>T, XM_017010459.2:c.899C>T, XM_017010459.1:c.899C>T, NM_001322312.3:c.623C>T, NM_001322312.2:c.623C>T, NM_001322312.1:c.623C>T, XM_017010458.3:c.902C>T, XM_017010458.2:c.902C>T, XM_017010458.1:c.902C>T, XM_017010464.3:c.902C>T, XM_017010464.2:c.902C>T, XM_017010464.1:c.902C>T, NM_001322309.3:c.899C>T, NM_001322309.2:c.899C>T, NM_001322309.1:c.899C>T, NM_001322308.3:c.899C>T, NM_001322308.2:c.899C>T, NM_001322308.1:c.899C>T, NM_001374581.2:c.899C>T, NM_001374581.1:c.899C>T, NM_001322313.2:c.830C>T, NM_001322313.1:c.830C>T, NM_001374583.2:c.623C>T, NM_001374583.1:c.623C>T, NM_001322310.2:c.1106C>T, NM_001322310.1:c.1106C>T, NM_001322311.2:c.623C>T, NM_001322311.1:c.623C>T, XM_047418373.1:c.1106C>T, XM_047418374.1:c.1106C>T, XM_047418372.1:c.1106C>T, XM_047418375.1:c.830C>T, NM_001374582.1:c.1106C>T, NP_112210.1:p.Thr300Ile, XP_005248991.1:p.Thr369Ile, NP_001309243.1:p.Thr370Ile, NP_001229577.1:p.Thr300Ile, XP_016865948.1:p.Thr300Ile, NP_001309241.1:p.Thr208Ile, XP_016865947.1:p.Thr301Ile, XP_016865953.1:p.Thr301Ile, NP_001309238.1:p.Thr300Ile, NP_001309237.1:p.Thr300Ile, NP_001361510.1:p.Thr300Ile, NP_001309242.1:p.Thr277Ile, NP_001361512.1:p.Thr208Ile, NP_001309239.1:p.Thr369Ile, NP_001309240.1:p.Thr208Ile, XP_047274329.1:p.Thr369Ile, XP_047274330.1:p.Thr369Ile, XP_047274328.1:p.Thr369Ile, XP_047274331.1:p.Thr277Ile, NP_001361511.1:p.Thr369Ile

                                16.

                                rs1469777656 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  6:13182603 (GRCh38)
                                  6:13182835 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:13182602:T:G
                                  Gene:
                                  PHACTR1 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000006.12:g.13182603T>G, NC_000006.11:g.13182835T>G, NM_030948.6:c.581T>G, NM_030948.5:c.581T>G, NM_030948.4:c.581T>G, NM_030948.3:c.581T>G, NM_030948.2:c.581T>G, XM_005248934.4:c.581T>G, XM_005248934.3:c.581T>G, XM_005248934.2:c.581T>G, XM_005248934.1:c.581T>G, NM_001322314.4:c.584T>G, NM_001322314.3:c.584T>G, NM_001322314.2:c.584T>G, NM_001322314.1:c.584T>G, NM_001242648.4:c.581T>G, NM_001242648.3:c.581T>G, NM_001242648.2:c.581T>G, NM_001242648.1:c.581T>G, XM_017010459.3:c.581T>G, XM_017010459.2:c.581T>G, XM_017010459.1:c.581T>G, NM_001322312.3:c.305T>G, NM_001322312.2:c.305T>G, NM_001322312.1:c.305T>G, XM_017010458.3:c.584T>G, XM_017010458.2:c.584T>G, XM_017010458.1:c.584T>G, XM_017010464.3:c.584T>G, XM_017010464.2:c.584T>G, XM_017010464.1:c.584T>G, NM_001322309.3:c.581T>G, NM_001322309.2:c.581T>G, NM_001322309.1:c.581T>G, NM_001322308.3:c.581T>G, NM_001322308.2:c.581T>G, NM_001322308.1:c.581T>G, NM_001374581.2:c.581T>G, NM_001374581.1:c.581T>G, NM_001322313.2:c.305T>G, NM_001322313.1:c.305T>G, NM_001374583.2:c.305T>G, NM_001374583.1:c.305T>G, NM_001322310.2:c.581T>G, NM_001322310.1:c.581T>G, NM_001322311.2:c.305T>G, NM_001322311.1:c.305T>G, XM_047418373.1:c.581T>G, XM_047418374.1:c.581T>G, XM_047418372.1:c.581T>G, XM_047418375.1:c.305T>G, NM_001374582.1:c.581T>G, NP_112210.1:p.Leu194Arg, XP_005248991.1:p.Leu194Arg, NP_001309243.1:p.Leu195Arg, NP_001229577.1:p.Leu194Arg, XP_016865948.1:p.Leu194Arg, NP_001309241.1:p.Leu102Arg, XP_016865947.1:p.Leu195Arg, XP_016865953.1:p.Leu195Arg, NP_001309238.1:p.Leu194Arg, NP_001309237.1:p.Leu194Arg, NP_001361510.1:p.Leu194Arg, NP_001309242.1:p.Leu102Arg, NP_001361512.1:p.Leu102Arg, NP_001309239.1:p.Leu194Arg, NP_001309240.1:p.Leu102Arg, XP_047274329.1:p.Leu194Arg, XP_047274330.1:p.Leu194Arg, XP_047274328.1:p.Leu194Arg, XP_047274331.1:p.Leu102Arg, NP_001361511.1:p.Leu194Arg

                                  17.

                                  rs1469186771 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:13283503 (GRCh38)
                                    6:13283735 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:13283502:G:A
                                    Gene:
                                    PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.13283503G>A, NC_000006.11:g.13283735G>A, NM_030948.6:c.1591G>A, NM_030948.5:c.1591G>A, NM_030948.4:c.1591G>A, NM_030948.3:c.1591G>A, NM_030948.2:c.1591G>A, XM_005248934.4:c.1798G>A, XM_005248934.3:c.1798G>A, XM_005248934.2:c.1798G>A, XM_005248934.1:c.1798G>A, NM_001322314.4:c.1801G>A, NM_001322314.3:c.1801G>A, NM_001322314.2:c.1801G>A, NM_001322314.1:c.1801G>A, NM_001242648.4:c.1591G>A, NM_001242648.3:c.1591G>A, NM_001242648.2:c.1591G>A, NM_001242648.1:c.1591G>A, XM_017010459.3:c.1591G>A, XM_017010459.2:c.1591G>A, XM_017010459.1:c.1591G>A, NM_001322312.3:c.1315G>A, NM_001322312.2:c.1315G>A, NM_001322312.1:c.1315G>A, XM_017010458.3:c.1594G>A, XM_017010458.2:c.1594G>A, XM_017010458.1:c.1594G>A, XM_017010464.3:c.1594G>A, XM_017010464.2:c.1594G>A, XM_017010464.1:c.1594G>A, NM_001322309.3:c.1591G>A, NM_001322309.2:c.1591G>A, NM_001322309.1:c.1591G>A, NM_001322308.3:c.1591G>A, NM_001322308.2:c.1591G>A, NM_001322308.1:c.1591G>A, NM_001374581.2:c.1591G>A, NM_001374581.1:c.1591G>A, NM_001322313.2:c.1522G>A, NM_001322313.1:c.1522G>A, NM_001374583.2:c.1315G>A, NM_001374583.1:c.1315G>A, NM_001322310.2:c.1798G>A, NM_001322310.1:c.1798G>A, NM_001322311.2:c.1315G>A, NM_001322311.1:c.1315G>A, XM_047418373.1:c.1798G>A, XM_047418374.1:c.1798G>A, XM_047418372.1:c.1798G>A, XM_047418375.1:c.1522G>A, NP_112210.1:p.Ala531Thr, XP_005248991.1:p.Ala600Thr, NP_001309243.1:p.Ala601Thr, NP_001229577.1:p.Ala531Thr, XP_016865948.1:p.Ala531Thr, NP_001309241.1:p.Ala439Thr, XP_016865947.1:p.Ala532Thr, XP_016865953.1:p.Ala532Thr, NP_001309238.1:p.Ala531Thr, NP_001309237.1:p.Ala531Thr, NP_001361510.1:p.Ala531Thr, NP_001309242.1:p.Ala508Thr, NP_001361512.1:p.Ala439Thr, NP_001309239.1:p.Ala600Thr, NP_001309240.1:p.Ala439Thr, XP_047274329.1:p.Ala600Thr, XP_047274330.1:p.Ala600Thr, XP_047274328.1:p.Ala600Thr, XP_047274331.1:p.Ala508Thr

                                    18.

                                    rs1468591163 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      6:13230058 (GRCh38)
                                      6:13230290 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:13230057:G:A,NC_000006.12:13230057:G:C,NC_000006.12:13230057:G:T
                                      Gene:
                                      PHACTR1 (Varview), LOC105374933 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000006.12:g.13230058G>A, NC_000006.12:g.13230058G>C, NC_000006.12:g.13230058G>T, NC_000006.11:g.13230290G>A, NC_000006.11:g.13230290G>C, NC_000006.11:g.13230290G>T, NM_030948.6:c.1256G>A, NM_030948.6:c.1256G>C, NM_030948.6:c.1256G>T, NM_030948.5:c.1256G>A, NM_030948.5:c.1256G>C, NM_030948.5:c.1256G>T, NM_030948.4:c.1256G>A, NM_030948.4:c.1256G>C, NM_030948.4:c.1256G>T, NM_030948.3:c.1256G>A, NM_030948.3:c.1256G>C, NM_030948.3:c.1256G>T, NM_030948.2:c.1256G>A, NM_030948.2:c.1256G>C, NM_030948.2:c.1256G>T, XM_005248934.4:c.1463G>A, XM_005248934.4:c.1463G>C, XM_005248934.4:c.1463G>T, XM_005248934.3:c.1463G>A, XM_005248934.3:c.1463G>C, XM_005248934.3:c.1463G>T, XM_005248934.2:c.1463G>A, XM_005248934.2:c.1463G>C, XM_005248934.2:c.1463G>T, XM_005248934.1:c.1463G>A, XM_005248934.1:c.1463G>C, XM_005248934.1:c.1463G>T, NM_001322314.4:c.1466G>A, NM_001322314.4:c.1466G>C, NM_001322314.4:c.1466G>T, NM_001322314.3:c.1466G>A, NM_001322314.3:c.1466G>C, NM_001322314.3:c.1466G>T, NM_001322314.2:c.1466G>A, NM_001322314.2:c.1466G>C, NM_001322314.2:c.1466G>T, NM_001322314.1:c.1466G>A, NM_001322314.1:c.1466G>C, NM_001322314.1:c.1466G>T, NM_001242648.4:c.1256G>A, NM_001242648.4:c.1256G>C, NM_001242648.4:c.1256G>T, NM_001242648.3:c.1256G>A, NM_001242648.3:c.1256G>C, NM_001242648.3:c.1256G>T, NM_001242648.2:c.1256G>A, NM_001242648.2:c.1256G>C, NM_001242648.2:c.1256G>T, NM_001242648.1:c.1256G>A, NM_001242648.1:c.1256G>C, NM_001242648.1:c.1256G>T, XM_017010459.3:c.1256G>A, XM_017010459.3:c.1256G>C, XM_017010459.3:c.1256G>T, XM_017010459.2:c.1256G>A, XM_017010459.2:c.1256G>C, XM_017010459.2:c.1256G>T, XM_017010459.1:c.1256G>A, XM_017010459.1:c.1256G>C, XM_017010459.1:c.1256G>T, NM_001322312.3:c.980G>A, NM_001322312.3:c.980G>C, NM_001322312.3:c.980G>T, NM_001322312.2:c.980G>A, NM_001322312.2:c.980G>C, NM_001322312.2:c.980G>T, NM_001322312.1:c.980G>A, NM_001322312.1:c.980G>C, NM_001322312.1:c.980G>T, XM_017010458.3:c.1259G>A, XM_017010458.3:c.1259G>C, XM_017010458.3:c.1259G>T, XM_017010458.2:c.1259G>A, XM_017010458.2:c.1259G>C, XM_017010458.2:c.1259G>T, XM_017010458.1:c.1259G>A, XM_017010458.1:c.1259G>C, XM_017010458.1:c.1259G>T, XM_017010464.3:c.1259G>A, XM_017010464.3:c.1259G>C, XM_017010464.3:c.1259G>T, XM_017010464.2:c.1259G>A, XM_017010464.2:c.1259G>C, XM_017010464.2:c.1259G>T, XM_017010464.1:c.1259G>A, XM_017010464.1:c.1259G>C, XM_017010464.1:c.1259G>T, NM_001322309.3:c.1256G>A, NM_001322309.3:c.1256G>C, NM_001322309.3:c.1256G>T, NM_001322309.2:c.1256G>A, NM_001322309.2:c.1256G>C, NM_001322309.2:c.1256G>T, NM_001322309.1:c.1256G>A, NM_001322309.1:c.1256G>C, NM_001322309.1:c.1256G>T, NM_001322308.3:c.1256G>A, NM_001322308.3:c.1256G>C, NM_001322308.3:c.1256G>T, NM_001322308.2:c.1256G>A, NM_001322308.2:c.1256G>C, NM_001322308.2:c.1256G>T, NM_001322308.1:c.1256G>A, NM_001322308.1:c.1256G>C, NM_001322308.1:c.1256G>T, NM_001374581.2:c.1256G>A, NM_001374581.2:c.1256G>C, NM_001374581.2:c.1256G>T, NM_001374581.1:c.1256G>A, NM_001374581.1:c.1256G>C, NM_001374581.1:c.1256G>T, NM_001322313.2:c.1187G>A, NM_001322313.2:c.1187G>C, NM_001322313.2:c.1187G>T, NM_001322313.1:c.1187G>A, NM_001322313.1:c.1187G>C, NM_001322313.1:c.1187G>T, NM_001374583.2:c.980G>A, NM_001374583.2:c.980G>C, NM_001374583.2:c.980G>T, NM_001374583.1:c.980G>A, NM_001374583.1:c.980G>C, NM_001374583.1:c.980G>T, NM_001322310.2:c.1463G>A, NM_001322310.2:c.1463G>C, NM_001322310.2:c.1463G>T, NM_001322310.1:c.1463G>A, NM_001322310.1:c.1463G>C, NM_001322310.1:c.1463G>T, NM_001322311.2:c.980G>A, NM_001322311.2:c.980G>C, NM_001322311.2:c.980G>T, NM_001322311.1:c.980G>A, NM_001322311.1:c.980G>C, NM_001322311.1:c.980G>T, XM_047418373.1:c.1463G>A, XM_047418373.1:c.1463G>C, XM_047418373.1:c.1463G>T, XM_047418374.1:c.1463G>A, XM_047418374.1:c.1463G>C, XM_047418374.1:c.1463G>T, XM_047418372.1:c.1463G>A, XM_047418372.1:c.1463G>C, XM_047418372.1:c.1463G>T, XM_047418375.1:c.1187G>A, XM_047418375.1:c.1187G>C, XM_047418375.1:c.1187G>T, NM_001374582.1:c.1463G>A, NM_001374582.1:c.1463G>C, NM_001374582.1:c.1463G>T, NP_112210.1:p.Cys419Tyr, NP_112210.1:p.Cys419Ser, NP_112210.1:p.Cys419Phe, XP_005248991.1:p.Cys488Tyr, XP_005248991.1:p.Cys488Ser, XP_005248991.1:p.Cys488Phe, NP_001309243.1:p.Cys489Tyr, NP_001309243.1:p.Cys489Ser, NP_001309243.1:p.Cys489Phe, NP_001229577.1:p.Cys419Tyr, NP_001229577.1:p.Cys419Ser, NP_001229577.1:p.Cys419Phe, XP_016865948.1:p.Cys419Tyr, XP_016865948.1:p.Cys419Ser, XP_016865948.1:p.Cys419Phe, NP_001309241.1:p.Cys327Tyr, NP_001309241.1:p.Cys327Ser, NP_001309241.1:p.Cys327Phe, XP_016865947.1:p.Cys420Tyr, XP_016865947.1:p.Cys420Ser, XP_016865947.1:p.Cys420Phe, XP_016865953.1:p.Cys420Tyr, XP_016865953.1:p.Cys420Ser, XP_016865953.1:p.Cys420Phe, NP_001309238.1:p.Cys419Tyr, NP_001309238.1:p.Cys419Ser, NP_001309238.1:p.Cys419Phe, NP_001309237.1:p.Cys419Tyr, NP_001309237.1:p.Cys419Ser, NP_001309237.1:p.Cys419Phe, NP_001361510.1:p.Cys419Tyr, NP_001361510.1:p.Cys419Ser, NP_001361510.1:p.Cys419Phe, NP_001309242.1:p.Cys396Tyr, NP_001309242.1:p.Cys396Ser, NP_001309242.1:p.Cys396Phe, NP_001361512.1:p.Cys327Tyr, NP_001361512.1:p.Cys327Ser, NP_001361512.1:p.Cys327Phe, NP_001309239.1:p.Cys488Tyr, NP_001309239.1:p.Cys488Ser, NP_001309239.1:p.Cys488Phe, NP_001309240.1:p.Cys327Tyr, NP_001309240.1:p.Cys327Ser, NP_001309240.1:p.Cys327Phe, XP_047274329.1:p.Cys488Tyr, XP_047274329.1:p.Cys488Ser, XP_047274329.1:p.Cys488Phe, XP_047274330.1:p.Cys488Tyr, XP_047274330.1:p.Cys488Ser, XP_047274330.1:p.Cys488Phe, XP_047274328.1:p.Cys488Tyr, XP_047274328.1:p.Cys488Ser, XP_047274328.1:p.Cys488Phe, XP_047274331.1:p.Cys396Tyr, XP_047274331.1:p.Cys396Ser, XP_047274331.1:p.Cys396Phe, NP_001361511.1:p.Cys488Tyr, NP_001361511.1:p.Cys488Ser, NP_001361511.1:p.Cys488Phe

                                      19.

                                      rs1466718900 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:13053416 (GRCh38)
                                        6:13053648 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:13053415:G:A
                                        Gene:
                                        PHACTR1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000111/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.13053416G>A, NC_000006.11:g.13053648G>A, NM_030948.6:c.302G>A, NM_030948.5:c.302G>A, NM_030948.4:c.302G>A, NM_030948.3:c.302G>A, NM_030948.2:c.302G>A, XM_005248934.4:c.302G>A, XM_005248934.3:c.302G>A, XM_005248934.2:c.302G>A, XM_005248934.1:c.302G>A, NM_001322314.4:c.305G>A, NM_001322314.3:c.305G>A, NM_001322314.2:c.305G>A, NM_001322314.1:c.305G>A, NM_001242648.4:c.302G>A, NM_001242648.3:c.302G>A, NM_001242648.2:c.302G>A, NM_001242648.1:c.302G>A, XM_017010459.3:c.302G>A, XM_017010459.2:c.302G>A, XM_017010459.1:c.302G>A, NM_001322312.3:c.26G>A, NM_001322312.2:c.26G>A, NM_001322312.1:c.26G>A, XM_017010458.3:c.305G>A, XM_017010458.2:c.305G>A, XM_017010458.1:c.305G>A, XM_017010464.3:c.305G>A, XM_017010464.2:c.305G>A, XM_017010464.1:c.305G>A, NM_001322309.3:c.302G>A, NM_001322309.2:c.302G>A, NM_001322309.1:c.302G>A, NM_001322308.3:c.302G>A, NM_001322308.2:c.302G>A, NM_001322308.1:c.302G>A, NM_001374581.2:c.302G>A, NM_001374581.1:c.302G>A, NM_001322313.2:c.26G>A, NM_001322313.1:c.26G>A, NM_001374583.2:c.26G>A, NM_001374583.1:c.26G>A, NM_001322310.2:c.302G>A, NM_001322310.1:c.302G>A, NM_001322311.2:c.26G>A, NM_001322311.1:c.26G>A, XM_047418373.1:c.302G>A, XM_047418374.1:c.302G>A, XM_047418372.1:c.302G>A, XM_047418375.1:c.26G>A, NM_001374582.1:c.302G>A, NP_112210.1:p.Gly101Asp, XP_005248991.1:p.Gly101Asp, NP_001309243.1:p.Gly102Asp, NP_001229577.1:p.Gly101Asp, XP_016865948.1:p.Gly101Asp, NP_001309241.1:p.Gly9Asp, XP_016865947.1:p.Gly102Asp, XP_016865953.1:p.Gly102Asp, NP_001309238.1:p.Gly101Asp, NP_001309237.1:p.Gly101Asp, NP_001361510.1:p.Gly101Asp, NP_001309242.1:p.Gly9Asp, NP_001361512.1:p.Gly9Asp, NP_001309239.1:p.Gly101Asp, NP_001309240.1:p.Gly9Asp, XP_047274329.1:p.Gly101Asp, XP_047274330.1:p.Gly101Asp, XP_047274328.1:p.Gly101Asp, XP_047274331.1:p.Gly9Asp, NP_001361511.1:p.Gly101Asp

                                        20.

                                        rs1466494353 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TCCTGCCCTCCCAGATCCAGCACCA>- [Show Flanks]
                                          Chromosome:
                                          6:13205983 (GRCh38)
                                          6:13206215 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:13205982:TCCTGCCCTCCCAGATCCAGCACCA:
                                          Gene:
                                          PHACTR1 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          -=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.13205983_13206007del, NC_000006.11:g.13206215_13206239del, NM_030948.6:c.833_857del, NM_030948.5:c.833_857del, NM_030948.4:c.833_857del, NM_030948.3:c.833_857del, NM_030948.2:c.833_857del, XM_005248934.4:c.1040_1064del, XM_005248934.3:c.1040_1064del, XM_005248934.2:c.1040_1064del, XM_005248934.1:c.1040_1064del, NM_001322314.4:c.1043_1067del, NM_001322314.3:c.1043_1067del, NM_001322314.2:c.1043_1067del, NM_001322314.1:c.1043_1067del, NM_001242648.4:c.833_857del, NM_001242648.3:c.833_857del, NM_001242648.2:c.833_857del, NM_001242648.1:c.833_857del, XM_017010459.3:c.833_857del, XM_017010459.2:c.833_857del, XM_017010459.1:c.833_857del, NM_001322312.3:c.557_581del, NM_001322312.2:c.557_581del, NM_001322312.1:c.557_581del, XM_017010458.3:c.836_860del, XM_017010458.2:c.836_860del, XM_017010458.1:c.836_860del, XM_017010464.3:c.836_860del, XM_017010464.2:c.836_860del, XM_017010464.1:c.836_860del, NM_001322309.3:c.833_857del, NM_001322309.2:c.833_857del, NM_001322309.1:c.833_857del, NM_001322308.3:c.833_857del, NM_001322308.2:c.833_857del, NM_001322308.1:c.833_857del, NM_001374581.2:c.833_857del, NM_001374581.1:c.833_857del, NM_001322313.2:c.764_788del, NM_001322313.1:c.764_788del, NM_001374583.2:c.557_581del, NM_001374583.1:c.557_581del, NM_001322310.2:c.1040_1064del, NM_001322310.1:c.1040_1064del, NM_001322311.2:c.557_581del, NM_001322311.1:c.557_581del, XM_047418373.1:c.1040_1064del, XM_047418374.1:c.1040_1064del, XM_047418372.1:c.1040_1064del, XM_047418375.1:c.764_788del, NM_001374582.1:c.1040_1064del, NP_112210.1:p.Val278fs, XP_005248991.1:p.Val347fs, NP_001309243.1:p.Val348fs, NP_001229577.1:p.Val278fs, XP_016865948.1:p.Val278fs, NP_001309241.1:p.Val186fs, XP_016865947.1:p.Val279fs, XP_016865953.1:p.Val279fs, NP_001309238.1:p.Val278fs, NP_001309237.1:p.Val278fs, NP_001361510.1:p.Val278fs, NP_001309242.1:p.Val255fs, NP_001361512.1:p.Val186fs, NP_001309239.1:p.Val347fs, NP_001309240.1:p.Val186fs, XP_047274329.1:p.Val347fs, XP_047274330.1:p.Val347fs, XP_047274328.1:p.Val347fs, XP_047274331.1:p.Val255fs, NP_001361511.1:p.Val347fs

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