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Items: 1 to 20 of 1317

1.

rs1487356153 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    19:55206867 (GRCh38)
    19:55718235 (GRCh37)
    Canonical SPDI:
    NC_000019.10:55206866:T:A
    Gene:
    PTPRH (Varview)
    Functional Consequence:
    non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000019.10:g.55206867T>A, NC_000019.9:g.55718235T>A, NM_002842.5:c.174A>T, NM_002842.4:c.174A>T, NM_002842.3:c.174A>T, NM_001161440.3:c.174A>T, NM_001161440.2:c.174A>T, NM_001161440.1:c.174A>T, XM_017027058.2:c.219A>T, XM_017027058.1:c.219A>T, XM_011527183.2:c.195A>T, XM_011527183.1:c.195A>T, XM_011527188.2:c.-388A>T, XM_011527188.1:c.-388A>T, XM_017027062.2:c.-388A>T, XM_017027062.1:c.-388A>T, XM_011527190.2:c.195A>T, XM_011527190.1:c.195A>T, XM_017027064.2:c.240A>T, XM_017027064.1:c.240A>T, XM_017027056.1:c.240A>T, XM_017027057.1:c.240A>T, XM_047439148.1:c.174A>T, XM_047439144.1:c.219A>T, XM_047439152.1:c.-388A>T, XM_017027060.1:c.240A>T, XM_017027059.1:c.240A>T, XM_047439153.1:c.-388A>T, XM_047439145.1:c.240A>T, XM_047439149.1:c.174A>T, XM_047439147.1:c.219A>T, XM_047439146.1:c.219A>T, XM_047439150.1:c.174A>T, XM_017027063.1:c.-388A>T, XM_017027061.1:c.240A>T, XM_047439154.1:c.219A>T, XM_047439151.1:c.240A>T, XR_001753731.1:n.255A>T

    2.

    rs1484998709 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:55182077 (GRCh38)
      19:55693445 (GRCh37)
      Canonical SPDI:
      NC_000019.10:55182076:A:G
      Gene:
      PTPRH (Varview), SYT5 (Varview)
      Functional Consequence:
      2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
      HGVS:
      NC_000019.10:g.55182077A>G, NC_000019.9:g.55693445A>G, NM_002842.5:c.3137T>C, NM_002842.4:c.3137T>C, NM_002842.3:c.3137T>C, NM_001161440.3:c.2603T>C, NM_001161440.2:c.2603T>C, NM_001161440.1:c.2603T>C, XM_017027058.2:c.3182T>C, XM_017027058.1:c.3182T>C, XM_011527183.2:c.3158T>C, XM_011527183.1:c.3158T>C, XM_011527188.2:c.2576T>C, XM_011527188.1:c.2576T>C, XM_017027062.2:c.2576T>C, XM_017027062.1:c.2576T>C, XM_017027056.1:c.3203T>C, XM_017027057.1:c.3191T>C, XM_047439148.1:c.3125T>C, XM_047439144.1:c.3170T>C, XM_047439152.1:c.2576T>C, XM_017027060.1:c.3155T>C, XM_017027059.1:c.3203T>C, XM_047439153.1:c.2564T>C, XM_047439145.1:c.3191T>C, XM_047439149.1:c.3137T>C, XM_047439147.1:c.3134T>C, XM_047439146.1:c.3182T>C, XM_047439150.1:c.3125T>C, XM_017027063.1:c.2576T>C, XM_017027061.1:c.2669T>C, NP_002833.4:p.Leu1046Pro, NP_001154912.2:p.Leu868Pro, XP_016882547.1:p.Leu1061Pro, XP_011525485.1:p.Leu1053Pro, XP_011525490.1:p.Leu859Pro, XP_016882551.1:p.Leu859Pro, XP_016882545.1:p.Leu1068Pro, XP_016882546.1:p.Leu1064Pro, XP_047295104.1:p.Leu1042Pro, XP_047295100.1:p.Leu1057Pro, XP_047295108.1:p.Leu859Pro, XP_016882549.1:p.Leu1052Pro, XP_016882548.1:p.Leu1068Pro, XP_047295109.1:p.Leu855Pro, XP_047295101.1:p.Leu1064Pro, XP_047295105.1:p.Leu1046Pro, XP_047295103.1:p.Leu1045Pro, XP_047295102.1:p.Leu1061Pro, XP_047295106.1:p.Leu1042Pro, XP_016882552.1:p.Leu859Pro, XP_016882550.1:p.Leu890Pro

      3.

      rs1483986203 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:55198721 (GRCh38)
        19:55710089 (GRCh37)
        Canonical SPDI:
        NC_000019.10:55198720:C:A
        Gene:
        PTPRH (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.0001/1 (ALFA)
        HGVS:
        NC_000019.10:g.55198721C>A, NC_000019.9:g.55710089C>A, NM_002842.5:c.1612G>T, NM_002842.4:c.1612G>T, NM_002842.3:c.1612G>T, NM_001161440.3:c.1078G>T, NM_001161440.2:c.1078G>T, NM_001161440.1:c.1078G>T, XM_017027058.2:c.1657G>T, XM_017027058.1:c.1657G>T, XM_011527183.2:c.1633G>T, XM_011527183.1:c.1633G>T, XM_011527188.2:c.1051G>T, XM_011527188.1:c.1051G>T, XM_017027062.2:c.1051G>T, XM_017027062.1:c.1051G>T, XM_011527190.2:c.1633G>T, XM_011527190.1:c.1633G>T, XM_017027064.2:c.1678G>T, XM_017027064.1:c.1678G>T, XM_017027056.1:c.1678G>T, XM_017027057.1:c.1678G>T, XM_047439148.1:c.1612G>T, XM_047439144.1:c.1657G>T, XM_047439152.1:c.1051G>T, XM_017027060.1:c.1678G>T, XM_017027059.1:c.1678G>T, XM_047439153.1:c.1051G>T, XM_047439145.1:c.1678G>T, XM_047439149.1:c.1612G>T, XM_047439147.1:c.1657G>T, XM_047439146.1:c.1657G>T, XM_047439150.1:c.1612G>T, XM_017027063.1:c.1051G>T, XM_017027061.1:c.1144G>T, XM_047439154.1:c.1657G>T, XM_047439151.1:c.1678G>T, XR_001753731.1:n.1693G>T, NP_002833.4:p.Gly538Cys, NP_001154912.2:p.Gly360Cys, XP_016882547.1:p.Gly553Cys, XP_011525485.1:p.Gly545Cys, XP_011525490.1:p.Gly351Cys, XP_016882551.1:p.Gly351Cys, XP_011525492.1:p.Gly545Cys, XP_016882553.1:p.Gly560Cys, XP_016882545.1:p.Gly560Cys, XP_016882546.1:p.Gly560Cys, XP_047295104.1:p.Gly538Cys, XP_047295100.1:p.Gly553Cys, XP_047295108.1:p.Gly351Cys, XP_016882549.1:p.Gly560Cys, XP_016882548.1:p.Gly560Cys, XP_047295109.1:p.Gly351Cys, XP_047295101.1:p.Gly560Cys, XP_047295105.1:p.Gly538Cys, XP_047295103.1:p.Gly553Cys, XP_047295102.1:p.Gly553Cys, XP_047295106.1:p.Gly538Cys, XP_016882552.1:p.Gly351Cys, XP_016882550.1:p.Gly382Cys, XP_047295110.1:p.Gly553Cys, XP_047295107.1:p.Gly560Cys

        4.

        rs1483335387 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AGTGTACTCAACC>- [Show Flanks]
          Chromosome:
          19:55202204 (GRCh38)
          19:55713572 (GRCh37)
          Canonical SPDI:
          NC_000019.10:55202201:CCAGTGTACTCAACC:CC
          Gene:
          PTPRH (Varview)
          Functional Consequence:
          non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          NC_000019.10:g.55202204_55202216del, NC_000019.9:g.55713572_55713584del, NM_002842.5:c.995_1007del, NM_002842.4:c.995_1007del, NM_002842.3:c.995_1007del, NM_001161440.3:c.461_473del, NM_001161440.2:c.461_473del, NM_001161440.1:c.461_473del, XM_017027058.2:c.1040_1052del, XM_017027058.1:c.1040_1052del, XM_011527183.2:c.1016_1028del, XM_011527183.1:c.1016_1028del, XM_011527188.2:c.434_446del, XM_011527188.1:c.434_446del, XM_017027062.2:c.434_446del, XM_017027062.1:c.434_446del, XM_011527190.2:c.1016_1028del, XM_011527190.1:c.1016_1028del, XM_017027064.2:c.1061_1073del, XM_017027064.1:c.1061_1073del, XM_017027056.1:c.1061_1073del, XM_017027057.1:c.1061_1073del, XM_047439148.1:c.995_1007del, XM_047439144.1:c.1040_1052del, XM_047439152.1:c.434_446del, XM_017027060.1:c.1061_1073del, XM_017027059.1:c.1061_1073del, XM_047439153.1:c.434_446del, XM_047439145.1:c.1061_1073del, XM_047439149.1:c.995_1007del, XM_047439147.1:c.1040_1052del, XM_047439146.1:c.1040_1052del, XM_047439150.1:c.995_1007del, XM_017027063.1:c.434_446del, XM_047439154.1:c.1040_1052del, XM_047439151.1:c.1061_1073del, XR_001753731.1:n.1076_1088del, NP_002833.4:p.Val332fs, NP_001154912.2:p.Val154fs, XP_016882547.1:p.Val347fs, XP_011525485.1:p.Val339fs, XP_011525490.1:p.Val145fs, XP_016882551.1:p.Val145fs, XP_011525492.1:p.Val339fs, XP_016882553.1:p.Val354fs, XP_016882545.1:p.Val354fs, XP_016882546.1:p.Val354fs, XP_047295104.1:p.Val332fs, XP_047295100.1:p.Val347fs, XP_047295108.1:p.Val145fs, XP_016882549.1:p.Val354fs, XP_016882548.1:p.Val354fs, XP_047295109.1:p.Val145fs, XP_047295101.1:p.Val354fs, XP_047295105.1:p.Val332fs, XP_047295103.1:p.Val347fs, XP_047295102.1:p.Val347fs, XP_047295106.1:p.Val332fs, XP_016882552.1:p.Val145fs, XP_047295110.1:p.Val347fs, XP_047295107.1:p.Val354fs

          5.

          rs1482288161 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:55186358 (GRCh38)
            19:55697726 (GRCh37)
            Canonical SPDI:
            NC_000019.10:55186357:C:T
            Gene:
            PTPRH (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000111/1 (ALFA)
            T=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.55186358C>T, NC_000019.9:g.55697726C>T, NM_002842.5:c.2645G>A, NM_002842.4:c.2645G>A, NM_002842.3:c.2645G>A, NM_001161440.3:c.2111G>A, NM_001161440.2:c.2111G>A, NM_001161440.1:c.2111G>A, XM_017027058.2:c.2690G>A, XM_017027058.1:c.2690G>A, XM_011527183.2:c.2666G>A, XM_011527183.1:c.2666G>A, XM_011527188.2:c.2084G>A, XM_011527188.1:c.2084G>A, XM_017027062.2:c.2084G>A, XM_017027062.1:c.2084G>A, XM_017027056.1:c.2711G>A, XM_017027057.1:c.2699G>A, XM_047439148.1:c.2633G>A, XM_047439144.1:c.2678G>A, XM_047439152.1:c.2084G>A, XM_017027060.1:c.2663G>A, XM_017027059.1:c.2711G>A, XM_047439153.1:c.2072G>A, XM_047439145.1:c.2699G>A, XM_047439149.1:c.2645G>A, XM_047439147.1:c.2642G>A, XM_047439146.1:c.2690G>A, XM_047439150.1:c.2633G>A, XM_017027063.1:c.2084G>A, XM_017027061.1:c.2177G>A, XM_047439151.1:c.2711G>A, NP_002833.4:p.Gly882Asp, NP_001154912.2:p.Gly704Asp, XP_016882547.1:p.Gly897Asp, XP_011525485.1:p.Gly889Asp, XP_011525490.1:p.Gly695Asp, XP_016882551.1:p.Gly695Asp, XP_016882545.1:p.Gly904Asp, XP_016882546.1:p.Gly900Asp, XP_047295104.1:p.Gly878Asp, XP_047295100.1:p.Gly893Asp, XP_047295108.1:p.Gly695Asp, XP_016882549.1:p.Gly888Asp, XP_016882548.1:p.Gly904Asp, XP_047295109.1:p.Gly691Asp, XP_047295101.1:p.Gly900Asp, XP_047295105.1:p.Gly882Asp, XP_047295103.1:p.Gly881Asp, XP_047295102.1:p.Gly897Asp, XP_047295106.1:p.Gly878Asp, XP_016882552.1:p.Gly695Asp, XP_016882550.1:p.Gly726Asp, XP_047295107.1:p.Gly904Asp

            6.

            rs1482271464 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GCT [Show Flanks]
              Chromosome:
              19:55191529 (GRCh38)
              19:55702898 (GRCh37)
              Canonical SPDI:
              NC_000019.10:55191529:CTGCTGCT:CTGCTGCTGCT
              Gene:
              PTPRH (Varview)
              Functional Consequence:
              non_coding_transcript_variant,inframe_insertion,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CTGCTGCTGCT=0./0 (ALFA)
              CTG=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.55191532GCT[3], NC_000019.9:g.55702900GCT[3], NM_002842.5:c.2350CAG[3], NM_002842.4:c.2350CAG[3], NM_002842.3:c.2350CAG[3], NM_001161440.3:c.1816CAG[3], NM_001161440.2:c.1816CAG[3], NM_001161440.1:c.1816CAG[3], XM_017027058.2:c.2395CAG[3], XM_017027058.1:c.2395CAG[3], XM_011527183.2:c.2371CAG[3], XM_011527183.1:c.2371CAG[3], XM_011527188.2:c.1789CAG[3], XM_011527188.1:c.1789CAG[3], XM_017027062.2:c.1789CAG[3], XM_017027062.1:c.1789CAG[3], XM_017027056.1:c.2416CAG[3], XM_017027057.1:c.2404CAG[3], XM_047439148.1:c.2338CAG[3], XM_047439144.1:c.2383CAG[3], XM_047439152.1:c.1789CAG[3], XM_017027059.1:c.2416CAG[3], XM_047439153.1:c.1777CAG[3], XM_047439145.1:c.2404CAG[3], XM_047439149.1:c.2350CAG[3], XM_047439146.1:c.2395CAG[3], XM_047439150.1:c.2338CAG[3], XM_017027063.1:c.1789CAG[3], XM_017027061.1:c.1882CAG[3], XM_047439151.1:c.2416CAG[3], XR_001753731.1:n.2431CAG[3], NP_002833.4:p.Gln785dup, NP_001154912.2:p.Gln607dup, XP_016882547.1:p.Gln800dup, XP_011525485.1:p.Gln792dup, XP_011525490.1:p.Gln598dup, XP_016882551.1:p.Gln598dup, XP_016882545.1:p.Gln807dup, XP_016882546.1:p.Gln803dup, XP_047295104.1:p.Gln781dup, XP_047295100.1:p.Gln796dup, XP_047295108.1:p.Gln598dup, XP_016882548.1:p.Gln807dup, XP_047295109.1:p.Gln594dup, XP_047295101.1:p.Gln803dup, XP_047295105.1:p.Gln785dup, XP_047295102.1:p.Gln800dup, XP_047295106.1:p.Gln781dup, XP_016882552.1:p.Gln598dup, XP_016882550.1:p.Gln629dup, XP_047295107.1:p.Gln807dup

              7.

              rs1480948256 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:55186266 (GRCh38)
                19:55697634 (GRCh37)
                Canonical SPDI:
                NC_000019.10:55186265:G:A
                Gene:
                PTPRH (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000019.10:g.55186266G>A, NC_000019.9:g.55697634G>A, NM_002842.5:c.2737C>T, NM_002842.4:c.2737C>T, NM_002842.3:c.2737C>T, NM_001161440.3:c.2203C>T, NM_001161440.2:c.2203C>T, NM_001161440.1:c.2203C>T, XM_017027058.2:c.2782C>T, XM_017027058.1:c.2782C>T, XM_011527183.2:c.2758C>T, XM_011527183.1:c.2758C>T, XM_011527188.2:c.2176C>T, XM_011527188.1:c.2176C>T, XM_017027062.2:c.2176C>T, XM_017027062.1:c.2176C>T, XM_017027056.1:c.2803C>T, XM_017027057.1:c.2791C>T, XM_047439148.1:c.2725C>T, XM_047439144.1:c.2770C>T, XM_047439152.1:c.2176C>T, XM_017027060.1:c.2755C>T, XM_017027059.1:c.2803C>T, XM_047439153.1:c.2164C>T, XM_047439145.1:c.2791C>T, XM_047439149.1:c.2737C>T, XM_047439147.1:c.2734C>T, XM_047439146.1:c.2782C>T, XM_047439150.1:c.2725C>T, XM_017027063.1:c.2176C>T, XM_017027061.1:c.2269C>T, XM_047439151.1:c.2803C>T, NP_002833.4:p.His913Tyr, NP_001154912.2:p.His735Tyr, XP_016882547.1:p.His928Tyr, XP_011525485.1:p.His920Tyr, XP_011525490.1:p.His726Tyr, XP_016882551.1:p.His726Tyr, XP_016882545.1:p.His935Tyr, XP_016882546.1:p.His931Tyr, XP_047295104.1:p.His909Tyr, XP_047295100.1:p.His924Tyr, XP_047295108.1:p.His726Tyr, XP_016882549.1:p.His919Tyr, XP_016882548.1:p.His935Tyr, XP_047295109.1:p.His722Tyr, XP_047295101.1:p.His931Tyr, XP_047295105.1:p.His913Tyr, XP_047295103.1:p.His912Tyr, XP_047295102.1:p.His928Tyr, XP_047295106.1:p.His909Tyr, XP_016882552.1:p.His726Tyr, XP_016882550.1:p.His757Tyr, XP_047295107.1:p.His935Tyr

                8.

                rs1480854862 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  19:55182140 (GRCh38)
                  19:55693508 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:55182139:C:A
                  Gene:
                  PTPRH (Varview), SYT5 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.55182140C>A, NC_000019.9:g.55693508C>A, NM_002842.5:c.3074G>T, NM_002842.4:c.3074G>T, NM_002842.3:c.3074G>T, NM_001161440.3:c.2540G>T, NM_001161440.2:c.2540G>T, NM_001161440.1:c.2540G>T, XM_017027058.2:c.3119G>T, XM_017027058.1:c.3119G>T, XM_011527183.2:c.3095G>T, XM_011527183.1:c.3095G>T, XM_011527188.2:c.2513G>T, XM_011527188.1:c.2513G>T, XM_017027062.2:c.2513G>T, XM_017027062.1:c.2513G>T, XM_017027056.1:c.3140G>T, XM_017027057.1:c.3128G>T, XM_047439148.1:c.3062G>T, XM_047439144.1:c.3107G>T, XM_047439152.1:c.2513G>T, XM_017027060.1:c.3092G>T, XM_017027059.1:c.3140G>T, XM_047439153.1:c.2501G>T, XM_047439145.1:c.3128G>T, XM_047439149.1:c.3074G>T, XM_047439147.1:c.3071G>T, XM_047439146.1:c.3119G>T, XM_047439150.1:c.3062G>T, XM_017027063.1:c.2513G>T, XM_017027061.1:c.2606G>T, NP_002833.4:p.Gly1025Val, NP_001154912.2:p.Gly847Val, XP_016882547.1:p.Gly1040Val, XP_011525485.1:p.Gly1032Val, XP_011525490.1:p.Gly838Val, XP_016882551.1:p.Gly838Val, XP_016882545.1:p.Gly1047Val, XP_016882546.1:p.Gly1043Val, XP_047295104.1:p.Gly1021Val, XP_047295100.1:p.Gly1036Val, XP_047295108.1:p.Gly838Val, XP_016882549.1:p.Gly1031Val, XP_016882548.1:p.Gly1047Val, XP_047295109.1:p.Gly834Val, XP_047295101.1:p.Gly1043Val, XP_047295105.1:p.Gly1025Val, XP_047295103.1:p.Gly1024Val, XP_047295102.1:p.Gly1040Val, XP_047295106.1:p.Gly1021Val, XP_016882552.1:p.Gly838Val, XP_016882550.1:p.Gly869Val

                  9.

                  rs1479028598 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    19:55191666 (GRCh38)
                    19:55703034 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:55191665:C:A,NC_000019.10:55191665:C:T
                    Gene:
                    PTPRH (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.00004/1 (TOMMO)
                    HGVS:
                    NC_000019.10:g.55191666C>A, NC_000019.10:g.55191666C>T, NC_000019.9:g.55703034C>A, NC_000019.9:g.55703034C>T, NM_002842.5:c.2333G>T, NM_002842.5:c.2333G>A, NM_002842.4:c.2333G>T, NM_002842.4:c.2333G>A, NM_002842.3:c.2333G>T, NM_002842.3:c.2333G>A, NM_001161440.3:c.1799G>T, NM_001161440.3:c.1799G>A, NM_001161440.2:c.1799G>T, NM_001161440.2:c.1799G>A, NM_001161440.1:c.1799G>T, NM_001161440.1:c.1799G>A, XM_017027058.2:c.2378G>T, XM_017027058.2:c.2378G>A, XM_017027058.1:c.2378G>T, XM_017027058.1:c.2378G>A, XM_011527183.2:c.2354G>T, XM_011527183.2:c.2354G>A, XM_011527183.1:c.2354G>T, XM_011527183.1:c.2354G>A, XM_011527188.2:c.1772G>T, XM_011527188.2:c.1772G>A, XM_011527188.1:c.1772G>T, XM_011527188.1:c.1772G>A, XM_017027062.2:c.1772G>T, XM_017027062.2:c.1772G>A, XM_017027062.1:c.1772G>T, XM_017027062.1:c.1772G>A, XM_017027056.1:c.2399G>T, XM_017027056.1:c.2399G>A, XM_017027057.1:c.2387G>T, XM_017027057.1:c.2387G>A, XM_047439148.1:c.2321G>T, XM_047439148.1:c.2321G>A, XM_047439144.1:c.2366G>T, XM_047439144.1:c.2366G>A, XM_047439152.1:c.1772G>T, XM_047439152.1:c.1772G>A, XM_017027060.1:c.2399G>T, XM_017027060.1:c.2399G>A, XM_017027059.1:c.2399G>T, XM_017027059.1:c.2399G>A, XM_047439153.1:c.1760G>T, XM_047439153.1:c.1760G>A, XM_047439145.1:c.2387G>T, XM_047439145.1:c.2387G>A, XM_047439149.1:c.2333G>T, XM_047439149.1:c.2333G>A, XM_047439147.1:c.2378G>T, XM_047439147.1:c.2378G>A, XM_047439146.1:c.2378G>T, XM_047439146.1:c.2378G>A, XM_047439150.1:c.2321G>T, XM_047439150.1:c.2321G>A, XM_017027063.1:c.1772G>T, XM_017027063.1:c.1772G>A, XM_017027061.1:c.1865G>T, XM_017027061.1:c.1865G>A, XM_047439151.1:c.2399G>T, XM_047439151.1:c.2399G>A, XR_001753731.1:n.2414G>T, XR_001753731.1:n.2414G>A, NP_002833.4:p.Arg778Met, NP_002833.4:p.Arg778Lys, NP_001154912.2:p.Arg600Met, NP_001154912.2:p.Arg600Lys, XP_016882547.1:p.Arg793Met, XP_016882547.1:p.Arg793Lys, XP_011525485.1:p.Arg785Met, XP_011525485.1:p.Arg785Lys, XP_011525490.1:p.Arg591Met, XP_011525490.1:p.Arg591Lys, XP_016882551.1:p.Arg591Met, XP_016882551.1:p.Arg591Lys, XP_016882545.1:p.Arg800Met, XP_016882545.1:p.Arg800Lys, XP_016882546.1:p.Arg796Met, XP_016882546.1:p.Arg796Lys, XP_047295104.1:p.Arg774Met, XP_047295104.1:p.Arg774Lys, XP_047295100.1:p.Arg789Met, XP_047295100.1:p.Arg789Lys, XP_047295108.1:p.Arg591Met, XP_047295108.1:p.Arg591Lys, XP_016882549.1:p.Arg800Met, XP_016882549.1:p.Arg800Lys, XP_016882548.1:p.Arg800Met, XP_016882548.1:p.Arg800Lys, XP_047295109.1:p.Arg587Met, XP_047295109.1:p.Arg587Lys, XP_047295101.1:p.Arg796Met, XP_047295101.1:p.Arg796Lys, XP_047295105.1:p.Arg778Met, XP_047295105.1:p.Arg778Lys, XP_047295103.1:p.Arg793Met, XP_047295103.1:p.Arg793Lys, XP_047295102.1:p.Arg793Met, XP_047295102.1:p.Arg793Lys, XP_047295106.1:p.Arg774Met, XP_047295106.1:p.Arg774Lys, XP_016882552.1:p.Arg591Met, XP_016882552.1:p.Arg591Lys, XP_016882550.1:p.Arg622Met, XP_016882550.1:p.Arg622Lys, XP_047295107.1:p.Arg800Met, XP_047295107.1:p.Arg800Lys

                    10.

                    rs1476972126 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:55197334 (GRCh38)
                      19:55708702 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:55197333:G:A
                      Gene:
                      PTPRH (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.55197334G>A, NC_000019.9:g.55708702G>A, NM_002842.5:c.1773C>T, NM_002842.4:c.1773C>T, NM_002842.3:c.1773C>T, NM_001161440.3:c.1239C>T, NM_001161440.2:c.1239C>T, NM_001161440.1:c.1239C>T, XM_017027058.2:c.1818C>T, XM_017027058.1:c.1818C>T, XM_011527183.2:c.1794C>T, XM_011527183.1:c.1794C>T, XM_011527188.2:c.1212C>T, XM_011527188.1:c.1212C>T, XM_017027062.2:c.1212C>T, XM_017027062.1:c.1212C>T, XM_011527190.2:c.1794C>T, XM_011527190.1:c.1794C>T, XM_017027064.2:c.1839C>T, XM_017027064.1:c.1839C>T, XM_017027056.1:c.1839C>T, XM_017027057.1:c.1839C>T, XM_047439148.1:c.1773C>T, XM_047439144.1:c.1818C>T, XM_047439152.1:c.1212C>T, XM_017027060.1:c.1839C>T, XM_017027059.1:c.1839C>T, XM_047439153.1:c.1212C>T, XM_047439145.1:c.1839C>T, XM_047439149.1:c.1773C>T, XM_047439147.1:c.1818C>T, XM_047439146.1:c.1818C>T, XM_047439150.1:c.1773C>T, XM_017027063.1:c.1212C>T, XM_017027061.1:c.1305C>T, XM_047439154.1:c.1818C>T, XM_047439151.1:c.1839C>T, XR_001753731.1:n.1854C>T

                      11.

                      rs1476161697 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:55206745 (GRCh38)
                        19:55718113 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:55206744:A:G
                        Gene:
                        PTPRH (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000019.10:g.55206745A>G, NC_000019.9:g.55718113A>G, NM_002842.5:c.296T>C, NM_002842.4:c.296T>C, NM_002842.3:c.296T>C, NM_001161440.3:c.296T>C, NM_001161440.2:c.296T>C, NM_001161440.1:c.296T>C, XM_017027058.2:c.341T>C, XM_017027058.1:c.341T>C, XM_011527183.2:c.317T>C, XM_011527183.1:c.317T>C, XM_011527188.2:c.-266T>C, XM_011527188.1:c.-266T>C, XM_017027062.2:c.-266T>C, XM_017027062.1:c.-266T>C, XM_011527190.2:c.317T>C, XM_011527190.1:c.317T>C, XM_017027064.2:c.362T>C, XM_017027064.1:c.362T>C, XM_017027056.1:c.362T>C, XM_017027057.1:c.362T>C, XM_047439148.1:c.296T>C, XM_047439144.1:c.341T>C, XM_047439152.1:c.-266T>C, XM_017027060.1:c.362T>C, XM_017027059.1:c.362T>C, XM_047439153.1:c.-266T>C, XM_047439145.1:c.362T>C, XM_047439149.1:c.296T>C, XM_047439147.1:c.341T>C, XM_047439146.1:c.341T>C, XM_047439150.1:c.296T>C, XM_017027063.1:c.-266T>C, XM_017027061.1:c.362T>C, XM_047439154.1:c.341T>C, XM_047439151.1:c.362T>C, XR_001753731.1:n.377T>C, NP_002833.4:p.Val99Ala, NP_001154912.2:p.Val99Ala, XP_016882547.1:p.Val114Ala, XP_011525485.1:p.Val106Ala, XP_011525492.1:p.Val106Ala, XP_016882553.1:p.Val121Ala, XP_016882545.1:p.Val121Ala, XP_016882546.1:p.Val121Ala, XP_047295104.1:p.Val99Ala, XP_047295100.1:p.Val114Ala, XP_016882549.1:p.Val121Ala, XP_016882548.1:p.Val121Ala, XP_047295101.1:p.Val121Ala, XP_047295105.1:p.Val99Ala, XP_047295103.1:p.Val114Ala, XP_047295102.1:p.Val114Ala, XP_047295106.1:p.Val99Ala, XP_016882550.1:p.Val121Ala, XP_047295110.1:p.Val114Ala, XP_047295107.1:p.Val121Ala

                        12.

                        rs1474536535 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          19:55182126 (GRCh38)
                          19:55693494 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:55182125:G:C
                          Gene:
                          PTPRH (Varview), SYT5 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.55182126G>C, NC_000019.9:g.55693494G>C, NM_002842.5:c.3088C>G, NM_002842.4:c.3088C>G, NM_002842.3:c.3088C>G, NM_001161440.3:c.2554C>G, NM_001161440.2:c.2554C>G, NM_001161440.1:c.2554C>G, XM_017027058.2:c.3133C>G, XM_017027058.1:c.3133C>G, XM_011527183.2:c.3109C>G, XM_011527183.1:c.3109C>G, XM_011527188.2:c.2527C>G, XM_011527188.1:c.2527C>G, XM_017027062.2:c.2527C>G, XM_017027062.1:c.2527C>G, XM_017027056.1:c.3154C>G, XM_017027057.1:c.3142C>G, XM_047439148.1:c.3076C>G, XM_047439144.1:c.3121C>G, XM_047439152.1:c.2527C>G, XM_017027060.1:c.3106C>G, XM_017027059.1:c.3154C>G, XM_047439153.1:c.2515C>G, XM_047439145.1:c.3142C>G, XM_047439149.1:c.3088C>G, XM_047439147.1:c.3085C>G, XM_047439146.1:c.3133C>G, XM_047439150.1:c.3076C>G, XM_017027063.1:c.2527C>G, XM_017027061.1:c.2620C>G, NP_002833.4:p.Leu1030Val, NP_001154912.2:p.Leu852Val, XP_016882547.1:p.Leu1045Val, XP_011525485.1:p.Leu1037Val, XP_011525490.1:p.Leu843Val, XP_016882551.1:p.Leu843Val, XP_016882545.1:p.Leu1052Val, XP_016882546.1:p.Leu1048Val, XP_047295104.1:p.Leu1026Val, XP_047295100.1:p.Leu1041Val, XP_047295108.1:p.Leu843Val, XP_016882549.1:p.Leu1036Val, XP_016882548.1:p.Leu1052Val, XP_047295109.1:p.Leu839Val, XP_047295101.1:p.Leu1048Val, XP_047295105.1:p.Leu1030Val, XP_047295103.1:p.Leu1029Val, XP_047295102.1:p.Leu1045Val, XP_047295106.1:p.Leu1026Val, XP_016882552.1:p.Leu843Val, XP_016882550.1:p.Leu874Val

                          13.

                          rs1474504861 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            19:55196785 (GRCh38)
                            19:55708153 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:55196784:G:C,NC_000019.10:55196784:G:T
                            Gene:
                            PTPRH (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.00467/1 (Vietnamese)
                            HGVS:
                            NC_000019.10:g.55196785G>C, NC_000019.10:g.55196785G>T, NC_000019.9:g.55708153G>C, NC_000019.9:g.55708153G>T, NM_002842.5:c.1994C>G, NM_002842.5:c.1994C>A, NM_002842.4:c.1994C>G, NM_002842.4:c.1994C>A, NM_002842.3:c.1994C>G, NM_002842.3:c.1994C>A, NM_001161440.3:c.1460C>G, NM_001161440.3:c.1460C>A, NM_001161440.2:c.1460C>G, NM_001161440.2:c.1460C>A, NM_001161440.1:c.1460C>G, NM_001161440.1:c.1460C>A, XM_017027058.2:c.2039C>G, XM_017027058.2:c.2039C>A, XM_017027058.1:c.2039C>G, XM_017027058.1:c.2039C>A, XM_011527183.2:c.2015C>G, XM_011527183.2:c.2015C>A, XM_011527183.1:c.2015C>G, XM_011527183.1:c.2015C>A, XM_011527188.2:c.1433C>G, XM_011527188.2:c.1433C>A, XM_011527188.1:c.1433C>G, XM_011527188.1:c.1433C>A, XM_017027062.2:c.1433C>G, XM_017027062.2:c.1433C>A, XM_017027062.1:c.1433C>G, XM_017027062.1:c.1433C>A, XM_011527190.2:c.2015C>G, XM_011527190.2:c.2015C>A, XM_011527190.1:c.2015C>G, XM_011527190.1:c.2015C>A, XM_017027064.2:c.2060C>G, XM_017027064.2:c.2060C>A, XM_017027064.1:c.2060C>G, XM_017027064.1:c.2060C>A, XM_017027056.1:c.2060C>G, XM_017027056.1:c.2060C>A, XM_017027057.1:c.2048C>G, XM_017027057.1:c.2048C>A, XM_047439148.1:c.1982C>G, XM_047439148.1:c.1982C>A, XM_047439144.1:c.2027C>G, XM_047439144.1:c.2027C>A, XM_047439152.1:c.1433C>G, XM_047439152.1:c.1433C>A, XM_017027060.1:c.2060C>G, XM_017027060.1:c.2060C>A, XM_017027059.1:c.2060C>G, XM_017027059.1:c.2060C>A, XM_047439153.1:c.1421C>G, XM_047439153.1:c.1421C>A, XM_047439145.1:c.2048C>G, XM_047439145.1:c.2048C>A, XM_047439149.1:c.1994C>G, XM_047439149.1:c.1994C>A, XM_047439147.1:c.2039C>G, XM_047439147.1:c.2039C>A, XM_047439146.1:c.2039C>G, XM_047439146.1:c.2039C>A, XM_047439150.1:c.1982C>G, XM_047439150.1:c.1982C>A, XM_017027063.1:c.1433C>G, XM_017027063.1:c.1433C>A, XM_017027061.1:c.1526C>G, XM_017027061.1:c.1526C>A, XM_047439154.1:c.2039C>G, XM_047439154.1:c.2039C>A, XM_047439151.1:c.2060C>G, XM_047439151.1:c.2060C>A, XR_001753731.1:n.2075C>G, XR_001753731.1:n.2075C>A, NP_002833.4:p.Pro665Arg, NP_002833.4:p.Pro665Gln, NP_001154912.2:p.Pro487Arg, NP_001154912.2:p.Pro487Gln, XP_016882547.1:p.Pro680Arg, XP_016882547.1:p.Pro680Gln, XP_011525485.1:p.Pro672Arg, XP_011525485.1:p.Pro672Gln, XP_011525490.1:p.Pro478Arg, XP_011525490.1:p.Pro478Gln, XP_016882551.1:p.Pro478Arg, XP_016882551.1:p.Pro478Gln, XP_011525492.1:p.Pro672Arg, XP_011525492.1:p.Pro672Gln, XP_016882553.1:p.Pro687Arg, XP_016882553.1:p.Pro687Gln, XP_016882545.1:p.Pro687Arg, XP_016882545.1:p.Pro687Gln, XP_016882546.1:p.Pro683Arg, XP_016882546.1:p.Pro683Gln, XP_047295104.1:p.Pro661Arg, XP_047295104.1:p.Pro661Gln, XP_047295100.1:p.Pro676Arg, XP_047295100.1:p.Pro676Gln, XP_047295108.1:p.Pro478Arg, XP_047295108.1:p.Pro478Gln, XP_016882549.1:p.Pro687Arg, XP_016882549.1:p.Pro687Gln, XP_016882548.1:p.Pro687Arg, XP_016882548.1:p.Pro687Gln, XP_047295109.1:p.Pro474Arg, XP_047295109.1:p.Pro474Gln, XP_047295101.1:p.Pro683Arg, XP_047295101.1:p.Pro683Gln, XP_047295105.1:p.Pro665Arg, XP_047295105.1:p.Pro665Gln, XP_047295103.1:p.Pro680Arg, XP_047295103.1:p.Pro680Gln, XP_047295102.1:p.Pro680Arg, XP_047295102.1:p.Pro680Gln, XP_047295106.1:p.Pro661Arg, XP_047295106.1:p.Pro661Gln, XP_016882552.1:p.Pro478Arg, XP_016882552.1:p.Pro478Gln, XP_016882550.1:p.Pro509Arg, XP_016882550.1:p.Pro509Gln, XP_047295110.1:p.Pro680Arg, XP_047295110.1:p.Pro680Gln, XP_047295107.1:p.Pro687Arg, XP_047295107.1:p.Pro687Gln

                            14.

                            rs1472596439 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:55200256 (GRCh38)
                              19:55711624 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:55200255:T:C
                              Gene:
                              PTPRH (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.55200256T>C, NC_000019.9:g.55711624T>C, NM_002842.5:c.1400A>G, NM_002842.4:c.1400A>G, NM_002842.3:c.1400A>G, NM_001161440.3:c.866A>G, NM_001161440.2:c.866A>G, NM_001161440.1:c.866A>G, XM_017027058.2:c.1445A>G, XM_017027058.1:c.1445A>G, XM_011527183.2:c.1421A>G, XM_011527183.1:c.1421A>G, XM_011527188.2:c.839A>G, XM_011527188.1:c.839A>G, XM_017027062.2:c.839A>G, XM_017027062.1:c.839A>G, XM_011527190.2:c.1421A>G, XM_011527190.1:c.1421A>G, XM_017027064.2:c.1466A>G, XM_017027064.1:c.1466A>G, XM_017027056.1:c.1466A>G, XM_017027057.1:c.1466A>G, XM_047439148.1:c.1400A>G, XM_047439144.1:c.1445A>G, XM_047439152.1:c.839A>G, XM_017027060.1:c.1466A>G, XM_017027059.1:c.1466A>G, XM_047439153.1:c.839A>G, XM_047439145.1:c.1466A>G, XM_047439149.1:c.1400A>G, XM_047439147.1:c.1445A>G, XM_047439146.1:c.1445A>G, XM_047439150.1:c.1400A>G, XM_017027063.1:c.839A>G, XM_017027061.1:c.932A>G, XM_047439154.1:c.1445A>G, XM_047439151.1:c.1466A>G, XR_001753731.1:n.1481A>G, NP_002833.4:p.Gln467Arg, NP_001154912.2:p.Gln289Arg, XP_016882547.1:p.Gln482Arg, XP_011525485.1:p.Gln474Arg, XP_011525490.1:p.Gln280Arg, XP_016882551.1:p.Gln280Arg, XP_011525492.1:p.Gln474Arg, XP_016882553.1:p.Gln489Arg, XP_016882545.1:p.Gln489Arg, XP_016882546.1:p.Gln489Arg, XP_047295104.1:p.Gln467Arg, XP_047295100.1:p.Gln482Arg, XP_047295108.1:p.Gln280Arg, XP_016882549.1:p.Gln489Arg, XP_016882548.1:p.Gln489Arg, XP_047295109.1:p.Gln280Arg, XP_047295101.1:p.Gln489Arg, XP_047295105.1:p.Gln467Arg, XP_047295103.1:p.Gln482Arg, XP_047295102.1:p.Gln482Arg, XP_047295106.1:p.Gln467Arg, XP_016882552.1:p.Gln280Arg, XP_016882550.1:p.Gln311Arg, XP_047295110.1:p.Gln482Arg, XP_047295107.1:p.Gln489Arg

                              15.

                              rs1472274345 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                19:55198864 (GRCh38)
                                19:55710232 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:55198863:G:A,NC_000019.10:55198863:G:T
                                Gene:
                                PTPRH (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0./0 (GnomAD)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.55198864G>A, NC_000019.10:g.55198864G>T, NC_000019.9:g.55710232G>A, NC_000019.9:g.55710232G>T, NM_002842.5:c.1469C>T, NM_002842.5:c.1469C>A, NM_002842.4:c.1469C>T, NM_002842.4:c.1469C>A, NM_002842.3:c.1469C>T, NM_002842.3:c.1469C>A, NM_001161440.3:c.935C>T, NM_001161440.3:c.935C>A, NM_001161440.2:c.935C>T, NM_001161440.2:c.935C>A, NM_001161440.1:c.935C>T, NM_001161440.1:c.935C>A, XM_017027058.2:c.1514C>T, XM_017027058.2:c.1514C>A, XM_017027058.1:c.1514C>T, XM_017027058.1:c.1514C>A, XM_011527183.2:c.1490C>T, XM_011527183.2:c.1490C>A, XM_011527183.1:c.1490C>T, XM_011527183.1:c.1490C>A, XM_011527188.2:c.908C>T, XM_011527188.2:c.908C>A, XM_011527188.1:c.908C>T, XM_011527188.1:c.908C>A, XM_017027062.2:c.908C>T, XM_017027062.2:c.908C>A, XM_017027062.1:c.908C>T, XM_017027062.1:c.908C>A, XM_011527190.2:c.1490C>T, XM_011527190.2:c.1490C>A, XM_011527190.1:c.1490C>T, XM_011527190.1:c.1490C>A, XM_017027064.2:c.1535C>T, XM_017027064.2:c.1535C>A, XM_017027064.1:c.1535C>T, XM_017027064.1:c.1535C>A, XM_017027056.1:c.1535C>T, XM_017027056.1:c.1535C>A, XM_017027057.1:c.1535C>T, XM_017027057.1:c.1535C>A, XM_047439148.1:c.1469C>T, XM_047439148.1:c.1469C>A, XM_047439144.1:c.1514C>T, XM_047439144.1:c.1514C>A, XM_047439152.1:c.908C>T, XM_047439152.1:c.908C>A, XM_017027060.1:c.1535C>T, XM_017027060.1:c.1535C>A, XM_017027059.1:c.1535C>T, XM_017027059.1:c.1535C>A, XM_047439153.1:c.908C>T, XM_047439153.1:c.908C>A, XM_047439145.1:c.1535C>T, XM_047439145.1:c.1535C>A, XM_047439149.1:c.1469C>T, XM_047439149.1:c.1469C>A, XM_047439147.1:c.1514C>T, XM_047439147.1:c.1514C>A, XM_047439146.1:c.1514C>T, XM_047439146.1:c.1514C>A, XM_047439150.1:c.1469C>T, XM_047439150.1:c.1469C>A, XM_017027063.1:c.908C>T, XM_017027063.1:c.908C>A, XM_017027061.1:c.1001C>T, XM_017027061.1:c.1001C>A, XM_047439154.1:c.1514C>T, XM_047439154.1:c.1514C>A, XM_047439151.1:c.1535C>T, XM_047439151.1:c.1535C>A, XR_001753731.1:n.1550C>T, XR_001753731.1:n.1550C>A, NP_002833.4:p.Thr490Ile, NP_002833.4:p.Thr490Asn, NP_001154912.2:p.Thr312Ile, NP_001154912.2:p.Thr312Asn, XP_016882547.1:p.Thr505Ile, XP_016882547.1:p.Thr505Asn, XP_011525485.1:p.Thr497Ile, XP_011525485.1:p.Thr497Asn, XP_011525490.1:p.Thr303Ile, XP_011525490.1:p.Thr303Asn, XP_016882551.1:p.Thr303Ile, XP_016882551.1:p.Thr303Asn, XP_011525492.1:p.Thr497Ile, XP_011525492.1:p.Thr497Asn, XP_016882553.1:p.Thr512Ile, XP_016882553.1:p.Thr512Asn, XP_016882545.1:p.Thr512Ile, XP_016882545.1:p.Thr512Asn, XP_016882546.1:p.Thr512Ile, XP_016882546.1:p.Thr512Asn, XP_047295104.1:p.Thr490Ile, XP_047295104.1:p.Thr490Asn, XP_047295100.1:p.Thr505Ile, XP_047295100.1:p.Thr505Asn, XP_047295108.1:p.Thr303Ile, XP_047295108.1:p.Thr303Asn, XP_016882549.1:p.Thr512Ile, XP_016882549.1:p.Thr512Asn, XP_016882548.1:p.Thr512Ile, XP_016882548.1:p.Thr512Asn, XP_047295109.1:p.Thr303Ile, XP_047295109.1:p.Thr303Asn, XP_047295101.1:p.Thr512Ile, XP_047295101.1:p.Thr512Asn, XP_047295105.1:p.Thr490Ile, XP_047295105.1:p.Thr490Asn, XP_047295103.1:p.Thr505Ile, XP_047295103.1:p.Thr505Asn, XP_047295102.1:p.Thr505Ile, XP_047295102.1:p.Thr505Asn, XP_047295106.1:p.Thr490Ile, XP_047295106.1:p.Thr490Asn, XP_016882552.1:p.Thr303Ile, XP_016882552.1:p.Thr303Asn, XP_016882550.1:p.Thr334Ile, XP_016882550.1:p.Thr334Asn, XP_047295110.1:p.Thr505Ile, XP_047295110.1:p.Thr505Asn, XP_047295107.1:p.Thr512Ile, XP_047295107.1:p.Thr512Asn

                                16.

                                rs1470769584 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:55198883 (GRCh38)
                                  19:55710251 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:55198882:G:A
                                  Gene:
                                  PTPRH (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.55198883G>A, NC_000019.9:g.55710251G>A, NM_002842.5:c.1450C>T, NM_002842.4:c.1450C>T, NM_002842.3:c.1450C>T, NM_001161440.3:c.916C>T, NM_001161440.2:c.916C>T, NM_001161440.1:c.916C>T, XM_017027058.2:c.1495C>T, XM_017027058.1:c.1495C>T, XM_011527183.2:c.1471C>T, XM_011527183.1:c.1471C>T, XM_011527188.2:c.889C>T, XM_011527188.1:c.889C>T, XM_017027062.2:c.889C>T, XM_017027062.1:c.889C>T, XM_011527190.2:c.1471C>T, XM_011527190.1:c.1471C>T, XM_017027064.2:c.1516C>T, XM_017027064.1:c.1516C>T, XM_017027056.1:c.1516C>T, XM_017027057.1:c.1516C>T, XM_047439148.1:c.1450C>T, XM_047439144.1:c.1495C>T, XM_047439152.1:c.889C>T, XM_017027060.1:c.1516C>T, XM_017027059.1:c.1516C>T, XM_047439153.1:c.889C>T, XM_047439145.1:c.1516C>T, XM_047439149.1:c.1450C>T, XM_047439147.1:c.1495C>T, XM_047439146.1:c.1495C>T, XM_047439150.1:c.1450C>T, XM_017027063.1:c.889C>T, XM_017027061.1:c.982C>T, XM_047439154.1:c.1495C>T, XM_047439151.1:c.1516C>T, XR_001753731.1:n.1531C>T, NP_002833.4:p.Gln484Ter, NP_001154912.2:p.Gln306Ter, XP_016882547.1:p.Gln499Ter, XP_011525485.1:p.Gln491Ter, XP_011525490.1:p.Gln297Ter, XP_016882551.1:p.Gln297Ter, XP_011525492.1:p.Gln491Ter, XP_016882553.1:p.Gln506Ter, XP_016882545.1:p.Gln506Ter, XP_016882546.1:p.Gln506Ter, XP_047295104.1:p.Gln484Ter, XP_047295100.1:p.Gln499Ter, XP_047295108.1:p.Gln297Ter, XP_016882549.1:p.Gln506Ter, XP_016882548.1:p.Gln506Ter, XP_047295109.1:p.Gln297Ter, XP_047295101.1:p.Gln506Ter, XP_047295105.1:p.Gln484Ter, XP_047295103.1:p.Gln499Ter, XP_047295102.1:p.Gln499Ter, XP_047295106.1:p.Gln484Ter, XP_016882552.1:p.Gln297Ter, XP_016882550.1:p.Gln328Ter, XP_047295110.1:p.Gln499Ter, XP_047295107.1:p.Gln506Ter

                                  17.

                                  rs1470083472 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    19:55196644 (GRCh38)
                                    19:55708012 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:55196643:C:A,NC_000019.10:55196643:C:T
                                    Gene:
                                    PTPRH (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_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_000019.10:g.55196644C>A, NC_000019.10:g.55196644C>T, NC_000019.9:g.55708012C>A, NC_000019.9:g.55708012C>T, NM_002842.5:c.2135G>T, NM_002842.5:c.2135G>A, NM_002842.4:c.2135G>T, NM_002842.4:c.2135G>A, NM_002842.3:c.2135G>T, NM_002842.3:c.2135G>A, NM_001161440.3:c.1601G>T, NM_001161440.3:c.1601G>A, NM_001161440.2:c.1601G>T, NM_001161440.2:c.1601G>A, NM_001161440.1:c.1601G>T, NM_001161440.1:c.1601G>A, XM_017027058.2:c.2180G>T, XM_017027058.2:c.2180G>A, XM_017027058.1:c.2180G>T, XM_017027058.1:c.2180G>A, XM_011527183.2:c.2156G>T, XM_011527183.2:c.2156G>A, XM_011527183.1:c.2156G>T, XM_011527183.1:c.2156G>A, XM_011527188.2:c.1574G>T, XM_011527188.2:c.1574G>A, XM_011527188.1:c.1574G>T, XM_011527188.1:c.1574G>A, XM_017027062.2:c.1574G>T, XM_017027062.2:c.1574G>A, XM_017027062.1:c.1574G>T, XM_017027062.1:c.1574G>A, XM_011527190.2:c.2156G>T, XM_011527190.2:c.2156G>A, XM_011527190.1:c.2156G>T, XM_011527190.1:c.2156G>A, XM_017027064.2:c.2201G>T, XM_017027064.2:c.2201G>A, XM_017027064.1:c.2201G>T, XM_017027064.1:c.2201G>A, XM_017027056.1:c.2201G>T, XM_017027056.1:c.2201G>A, XM_017027057.1:c.2189G>T, XM_017027057.1:c.2189G>A, XM_047439148.1:c.2123G>T, XM_047439148.1:c.2123G>A, XM_047439144.1:c.2168G>T, XM_047439144.1:c.2168G>A, XM_047439152.1:c.1574G>T, XM_047439152.1:c.1574G>A, XM_017027060.1:c.2201G>T, XM_017027060.1:c.2201G>A, XM_017027059.1:c.2201G>T, XM_017027059.1:c.2201G>A, XM_047439153.1:c.1562G>T, XM_047439153.1:c.1562G>A, XM_047439145.1:c.2189G>T, XM_047439145.1:c.2189G>A, XM_047439149.1:c.2135G>T, XM_047439149.1:c.2135G>A, XM_047439147.1:c.2180G>T, XM_047439147.1:c.2180G>A, XM_047439146.1:c.2180G>T, XM_047439146.1:c.2180G>A, XM_047439150.1:c.2123G>T, XM_047439150.1:c.2123G>A, XM_017027063.1:c.1574G>T, XM_017027063.1:c.1574G>A, XM_017027061.1:c.1667G>T, XM_017027061.1:c.1667G>A, XM_047439154.1:c.2180G>T, XM_047439154.1:c.2180G>A, XM_047439151.1:c.2201G>T, XM_047439151.1:c.2201G>A, XR_001753731.1:n.2216G>T, XR_001753731.1:n.2216G>A, NP_002833.4:p.Cys712Phe, NP_002833.4:p.Cys712Tyr, NP_001154912.2:p.Cys534Phe, NP_001154912.2:p.Cys534Tyr, XP_016882547.1:p.Cys727Phe, XP_016882547.1:p.Cys727Tyr, XP_011525485.1:p.Cys719Phe, XP_011525485.1:p.Cys719Tyr, XP_011525490.1:p.Cys525Phe, XP_011525490.1:p.Cys525Tyr, XP_016882551.1:p.Cys525Phe, XP_016882551.1:p.Cys525Tyr, XP_011525492.1:p.Cys719Phe, XP_011525492.1:p.Cys719Tyr, XP_016882553.1:p.Cys734Phe, XP_016882553.1:p.Cys734Tyr, XP_016882545.1:p.Cys734Phe, XP_016882545.1:p.Cys734Tyr, XP_016882546.1:p.Cys730Phe, XP_016882546.1:p.Cys730Tyr, XP_047295104.1:p.Cys708Phe, XP_047295104.1:p.Cys708Tyr, XP_047295100.1:p.Cys723Phe, XP_047295100.1:p.Cys723Tyr, XP_047295108.1:p.Cys525Phe, XP_047295108.1:p.Cys525Tyr, XP_016882549.1:p.Cys734Phe, XP_016882549.1:p.Cys734Tyr, XP_016882548.1:p.Cys734Phe, XP_016882548.1:p.Cys734Tyr, XP_047295109.1:p.Cys521Phe, XP_047295109.1:p.Cys521Tyr, XP_047295101.1:p.Cys730Phe, XP_047295101.1:p.Cys730Tyr, XP_047295105.1:p.Cys712Phe, XP_047295105.1:p.Cys712Tyr, XP_047295103.1:p.Cys727Phe, XP_047295103.1:p.Cys727Tyr, XP_047295102.1:p.Cys727Phe, XP_047295102.1:p.Cys727Tyr, XP_047295106.1:p.Cys708Phe, XP_047295106.1:p.Cys708Tyr, XP_016882552.1:p.Cys525Phe, XP_016882552.1:p.Cys525Tyr, XP_016882550.1:p.Cys556Phe, XP_016882550.1:p.Cys556Tyr, XP_047295110.1:p.Cys727Phe, XP_047295110.1:p.Cys727Tyr, XP_047295107.1:p.Cys734Phe, XP_047295107.1:p.Cys734Tyr

                                    18.

                                    rs1469522123 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:55182071 (GRCh38)
                                      19:55693439 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:55182070:G:A
                                      Gene:
                                      PTPRH (Varview), SYT5 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.55182071G>A, NC_000019.9:g.55693439G>A, NM_002842.5:c.3143C>T, NM_002842.4:c.3143C>T, NM_002842.3:c.3143C>T, NM_001161440.3:c.2609C>T, NM_001161440.2:c.2609C>T, NM_001161440.1:c.2609C>T, XM_017027058.2:c.3188C>T, XM_017027058.1:c.3188C>T, XM_011527183.2:c.3164C>T, XM_011527183.1:c.3164C>T, XM_011527188.2:c.2582C>T, XM_011527188.1:c.2582C>T, XM_017027062.2:c.2582C>T, XM_017027062.1:c.2582C>T, XM_017027056.1:c.3209C>T, XM_017027057.1:c.3197C>T, XM_047439148.1:c.3131C>T, XM_047439144.1:c.3176C>T, XM_047439152.1:c.2582C>T, XM_017027060.1:c.3161C>T, XM_017027059.1:c.3209C>T, XM_047439153.1:c.2570C>T, XM_047439145.1:c.3197C>T, XM_047439149.1:c.3143C>T, XM_047439147.1:c.3140C>T, XM_047439146.1:c.3188C>T, XM_047439150.1:c.3131C>T, XM_017027063.1:c.2582C>T, XM_017027061.1:c.2675C>T, NP_002833.4:p.Pro1048Leu, NP_001154912.2:p.Pro870Leu, XP_016882547.1:p.Pro1063Leu, XP_011525485.1:p.Pro1055Leu, XP_011525490.1:p.Pro861Leu, XP_016882551.1:p.Pro861Leu, XP_016882545.1:p.Pro1070Leu, XP_016882546.1:p.Pro1066Leu, XP_047295104.1:p.Pro1044Leu, XP_047295100.1:p.Pro1059Leu, XP_047295108.1:p.Pro861Leu, XP_016882549.1:p.Pro1054Leu, XP_016882548.1:p.Pro1070Leu, XP_047295109.1:p.Pro857Leu, XP_047295101.1:p.Pro1066Leu, XP_047295105.1:p.Pro1048Leu, XP_047295103.1:p.Pro1047Leu, XP_047295102.1:p.Pro1063Leu, XP_047295106.1:p.Pro1044Leu, XP_016882552.1:p.Pro861Leu, XP_016882550.1:p.Pro892Leu

                                      19.

                                      rs1469212724 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        19:55186509 (GRCh38)
                                        19:55697877 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:55186508:G:C
                                        Gene:
                                        PTPRH (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000028/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.55186509G>C, NC_000019.9:g.55697877G>C, NM_002842.5:c.2598C>G, NM_002842.4:c.2598C>G, NM_002842.3:c.2598C>G, NM_001161440.3:c.2064C>G, NM_001161440.2:c.2064C>G, NM_001161440.1:c.2064C>G, XM_017027058.2:c.2643C>G, XM_017027058.1:c.2643C>G, XM_011527183.2:c.2619C>G, XM_011527183.1:c.2619C>G, XM_011527188.2:c.2037C>G, XM_011527188.1:c.2037C>G, XM_017027062.2:c.2037C>G, XM_017027062.1:c.2037C>G, XM_017027056.1:c.2664C>G, XM_017027057.1:c.2652C>G, XM_047439148.1:c.2586C>G, XM_047439144.1:c.2631C>G, XM_047439152.1:c.2037C>G, XM_017027060.1:c.2616C>G, XM_017027059.1:c.2664C>G, XM_047439153.1:c.2025C>G, XM_047439145.1:c.2652C>G, XM_047439149.1:c.2598C>G, XM_047439147.1:c.2595C>G, XM_047439146.1:c.2643C>G, XM_047439150.1:c.2586C>G, XM_017027063.1:c.2037C>G, XM_017027061.1:c.2130C>G, XM_047439151.1:c.2664C>G, NP_002833.4:p.Ile866Met, NP_001154912.2:p.Ile688Met, XP_016882547.1:p.Ile881Met, XP_011525485.1:p.Ile873Met, XP_011525490.1:p.Ile679Met, XP_016882551.1:p.Ile679Met, XP_016882545.1:p.Ile888Met, XP_016882546.1:p.Ile884Met, XP_047295104.1:p.Ile862Met, XP_047295100.1:p.Ile877Met, XP_047295108.1:p.Ile679Met, XP_016882549.1:p.Ile872Met, XP_016882548.1:p.Ile888Met, XP_047295109.1:p.Ile675Met, XP_047295101.1:p.Ile884Met, XP_047295105.1:p.Ile866Met, XP_047295103.1:p.Ile865Met, XP_047295102.1:p.Ile881Met, XP_047295106.1:p.Ile862Met, XP_016882552.1:p.Ile679Met, XP_016882550.1:p.Ile710Met, XP_047295107.1:p.Ile888Met

                                        20.

                                        rs1469081437 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:55205414 (GRCh38)
                                          19:55716782 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:55205413:T:C
                                          Gene:
                                          PTPRH (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.55205414T>C, NC_000019.9:g.55716782T>C, NM_002842.5:c.531A>G, NM_002842.4:c.531A>G, NM_002842.3:c.531A>G, XM_017027058.2:c.576A>G, XM_017027058.1:c.576A>G, XM_011527183.2:c.552A>G, XM_011527183.1:c.552A>G, XM_011527188.2:c.-31A>G, XM_011527188.1:c.-31A>G, XM_017027062.2:c.-31A>G, XM_017027062.1:c.-31A>G, XM_011527190.2:c.552A>G, XM_011527190.1:c.552A>G, XM_017027064.2:c.597A>G, XM_017027064.1:c.597A>G, XM_017027056.1:c.597A>G, XM_017027057.1:c.597A>G, XM_047439148.1:c.531A>G, XM_047439144.1:c.576A>G, XM_047439152.1:c.-31A>G, XM_017027060.1:c.597A>G, XM_017027059.1:c.597A>G, XM_047439153.1:c.-31A>G, XM_047439145.1:c.597A>G, XM_047439149.1:c.531A>G, XM_047439147.1:c.576A>G, XM_047439146.1:c.576A>G, XM_047439150.1:c.531A>G, XM_017027063.1:c.-31A>G, XM_017027061.1:c.597A>G, XM_047439154.1:c.576A>G, XM_047439151.1:c.597A>G, XR_001753731.1:n.612A>G

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