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Links from Protein

Items: 1 to 20 of 690

1.

rs1488594433 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    18:7567847 (GRCh38)
    18:7567845 (GRCh37)
    Canonical SPDI:
    NC_000018.10:7567846:C:T
    Gene:
    PTPRM (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:

    2.

    rs1486951176 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      18:7926648 (GRCh38)
      18:7926646 (GRCh37)
      Canonical SPDI:
      NC_000018.10:7926647:G:A
      Gene:
      PTPRM (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000018.10:g.7926648G>A, NC_000018.9:g.7926646G>A, NM_002845.4:c.628G>A, NM_002845.3:c.628G>A, XM_011525708.3:c.628G>A, XM_011525708.2:c.628G>A, XM_011525708.1:c.628G>A, XM_011525712.3:c.628G>A, XM_011525712.2:c.628G>A, XM_011525712.1:c.628G>A, NM_001105244.2:c.628G>A, NM_001105244.1:c.628G>A, XM_017025894.2:c.703G>A, XM_017025894.1:c.613G>A, XM_017025895.2:c.703G>A, XM_017025895.1:c.613G>A, XM_017025896.2:c.703G>A, XM_017025896.1:c.613G>A, XM_017025897.2:c.703G>A, XM_017025897.1:c.613G>A, XM_017025898.2:c.703G>A, XM_017025898.1:c.613G>A, XM_017025899.2:c.703G>A, XM_017025899.1:c.613G>A, XM_017025900.2:c.703G>A, XM_017025900.1:c.613G>A, XM_017025901.2:c.703G>A, XM_017025901.1:c.613G>A, XM_017025902.2:c.703G>A, XM_017025902.1:c.613G>A, XM_017025903.2:c.703G>A, XM_017025903.1:c.613G>A, XM_017025904.2:c.703G>A, XM_017025904.1:c.613G>A, XM_017025911.2:c.628G>A, XM_017025911.1:c.628G>A, XM_017025910.2:c.703G>A, XM_017025910.1:c.613G>A, XM_017025912.2:c.703G>A, XM_017025912.1:c.613G>A, XM_047437714.1:c.628G>A, XM_047437715.1:c.628G>A, XM_047437716.1:c.628G>A, XM_047437717.1:c.628G>A, XM_047437724.1:c.628G>A, XM_047437723.1:c.628G>A, XM_047437722.1:c.703G>A, XM_047437721.1:c.703G>A, NP_002836.3:p.Gly210Ser, XP_011524010.1:p.Gly210Ser, XP_011524014.1:p.Gly210Ser, NP_001098714.1:p.Gly210Ser, XP_016881383.2:p.Gly235Ser, XP_016881384.2:p.Gly235Ser, XP_016881385.2:p.Gly235Ser, XP_016881386.2:p.Gly235Ser, XP_016881387.2:p.Gly235Ser, XP_016881388.2:p.Gly235Ser, XP_016881389.2:p.Gly235Ser, XP_016881390.2:p.Gly235Ser, XP_016881391.2:p.Gly235Ser, XP_016881392.2:p.Gly235Ser, XP_016881393.2:p.Gly235Ser, XP_016881400.1:p.Gly210Ser, XP_016881399.2:p.Gly235Ser, XP_016881401.2:p.Gly235Ser, XP_047293670.1:p.Gly210Ser, XP_047293671.1:p.Gly210Ser, XP_047293672.1:p.Gly210Ser, XP_047293673.1:p.Gly210Ser, XP_047293680.1:p.Gly210Ser, XP_047293679.1:p.Gly210Ser, XP_047293678.1:p.Gly235Ser, XP_047293677.1:p.Gly235Ser

      3.

      rs1486848372 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        18:7955392 (GRCh38)
        18:7955390 (GRCh37)
        Canonical SPDI:
        NC_000018.10:7955391:C:G
        Gene:
        PTPRM (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000018.10:g.7955392C>G, NC_000018.9:g.7955390C>G, NM_002845.4:c.1110C>G, NM_002845.3:c.1110C>G, XM_011525708.3:c.1110C>G, XM_011525708.2:c.1110C>G, XM_011525708.1:c.1110C>G, XM_011525712.3:c.1110C>G, XM_011525712.2:c.1110C>G, XM_011525712.1:c.1110C>G, NM_001105244.2:c.1110C>G, NM_001105244.1:c.1110C>G, XM_017025894.2:c.1185C>G, XM_017025894.1:c.1095C>G, XM_017025895.2:c.1185C>G, XM_017025895.1:c.1095C>G, XM_017025896.2:c.1185C>G, XM_017025896.1:c.1095C>G, XM_017025897.2:c.1185C>G, XM_017025897.1:c.1095C>G, XM_017025898.2:c.1185C>G, XM_017025898.1:c.1095C>G, XM_017025899.2:c.1185C>G, XM_017025899.1:c.1095C>G, XM_017025900.2:c.1185C>G, XM_017025900.1:c.1095C>G, XM_017025901.2:c.1185C>G, XM_017025901.1:c.1095C>G, XM_017025902.2:c.1185C>G, XM_017025902.1:c.1095C>G, XM_017025903.2:c.1185C>G, XM_017025903.1:c.1095C>G, XM_017025904.2:c.1185C>G, XM_017025904.1:c.1095C>G, XM_017025909.2:c.471C>G, XM_017025909.1:c.471C>G, XM_017025911.2:c.1110C>G, XM_017025911.1:c.1110C>G, XM_017025910.2:c.1185C>G, XM_017025910.1:c.1095C>G, XM_017025912.2:c.1185C>G, XM_017025912.1:c.1095C>G, XM_047437714.1:c.1110C>G, XM_047437715.1:c.1110C>G, XM_047437716.1:c.1110C>G, XM_047437717.1:c.1110C>G, NM_001378147.1:c.471C>G, XM_047437718.1:c.471C>G, NM_001378145.1:c.471C>G, NM_001378146.1:c.471C>G, XM_047437719.1:c.471C>G, NM_001378144.1:c.471C>G, XM_047437720.1:c.471C>G, NM_001378143.1:c.471C>G, NM_001378142.1:c.471C>G, XM_047437724.1:c.1110C>G, XM_047437723.1:c.1110C>G, XM_047437722.1:c.1185C>G, XM_047437721.1:c.1185C>G

        4.

        rs1484487117 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          18:7774259 (GRCh38)
          18:7774257 (GRCh37)
          Canonical SPDI:
          NC_000018.10:7774258:T:G
          Gene:
          PTPRM (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000318/5 (TOMMO)
          HGVS:
          NC_000018.10:g.7774259T>G, NC_000018.9:g.7774257T>G, NM_002845.4:c.184T>G, NM_002845.3:c.184T>G, XM_011525708.3:c.184T>G, XM_011525708.2:c.184T>G, XM_011525708.1:c.184T>G, XM_011525712.3:c.184T>G, XM_011525712.2:c.184T>G, XM_011525712.1:c.184T>G, NM_001105244.2:c.184T>G, NM_001105244.1:c.184T>G, XM_017025894.2:c.259T>G, XM_017025894.1:c.169T>G, XM_017025895.2:c.259T>G, XM_017025895.1:c.169T>G, XM_017025896.2:c.259T>G, XM_017025896.1:c.169T>G, XM_017025897.2:c.259T>G, XM_017025897.1:c.169T>G, XM_017025898.2:c.259T>G, XM_017025898.1:c.169T>G, XM_017025899.2:c.259T>G, XM_017025899.1:c.169T>G, XM_017025900.2:c.259T>G, XM_017025900.1:c.169T>G, XM_017025901.2:c.259T>G, XM_017025901.1:c.169T>G, XM_017025902.2:c.259T>G, XM_017025902.1:c.169T>G, XM_017025903.2:c.259T>G, XM_017025903.1:c.169T>G, XM_017025904.2:c.259T>G, XM_017025904.1:c.169T>G, XM_017025911.2:c.184T>G, XM_017025911.1:c.184T>G, XM_017025910.2:c.259T>G, XM_017025910.1:c.169T>G, XM_017025912.2:c.259T>G, XM_017025912.1:c.169T>G, XM_047437714.1:c.184T>G, XM_047437715.1:c.184T>G, XM_047437716.1:c.184T>G, XM_047437717.1:c.184T>G, XM_047437724.1:c.184T>G, XM_047437723.1:c.184T>G, XM_047437722.1:c.259T>G, XM_047437721.1:c.259T>G, NP_002836.3:p.Trp62Gly, XP_011524010.1:p.Trp62Gly, XP_011524014.1:p.Trp62Gly, NP_001098714.1:p.Trp62Gly, XP_016881383.2:p.Trp87Gly, XP_016881384.2:p.Trp87Gly, XP_016881385.2:p.Trp87Gly, XP_016881386.2:p.Trp87Gly, XP_016881387.2:p.Trp87Gly, XP_016881388.2:p.Trp87Gly, XP_016881389.2:p.Trp87Gly, XP_016881390.2:p.Trp87Gly, XP_016881391.2:p.Trp87Gly, XP_016881392.2:p.Trp87Gly, XP_016881393.2:p.Trp87Gly, XP_016881400.1:p.Trp62Gly, XP_016881399.2:p.Trp87Gly, XP_016881401.2:p.Trp87Gly, XP_047293670.1:p.Trp62Gly, XP_047293671.1:p.Trp62Gly, XP_047293672.1:p.Trp62Gly, XP_047293673.1:p.Trp62Gly, XP_047293680.1:p.Trp62Gly, XP_047293679.1:p.Trp62Gly, XP_047293678.1:p.Trp87Gly, XP_047293677.1:p.Trp87Gly

          5.

          rs1484074150 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:8113702 (GRCh38)
            18:8113700 (GRCh37)
            Canonical SPDI:
            NC_000018.10:8113701:C:T
            Gene:
            PTPRM (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000018.10:g.8113702C>T, NC_000018.9:g.8113700C>T, NM_002845.4:c.2073C>T, NM_002845.3:c.2073C>T, XM_011525708.3:c.2073C>T, XM_011525708.2:c.2073C>T, XM_011525708.1:c.2073C>T, XM_011525712.3:c.2073C>T, XM_011525712.2:c.2073C>T, XM_011525712.1:c.2073C>T, NM_001105244.2:c.2073C>T, NM_001105244.1:c.2073C>T, XM_017025894.2:c.2148C>T, XM_017025894.1:c.2058C>T, XM_017025895.2:c.2148C>T, XM_017025895.1:c.2058C>T, XM_017025896.2:c.2148C>T, XM_017025896.1:c.2058C>T, XM_017025897.2:c.2148C>T, XM_017025897.1:c.2058C>T, XM_017025898.2:c.2148C>T, XM_017025898.1:c.2058C>T, XM_017025899.2:c.2148C>T, XM_017025899.1:c.2058C>T, XM_017025900.2:c.2148C>T, XM_017025900.1:c.2058C>T, XM_017025901.2:c.2148C>T, XM_017025901.1:c.2058C>T, XM_017025902.2:c.2148C>T, XM_017025902.1:c.2058C>T, XM_017025903.2:c.2148C>T, XM_017025903.1:c.2058C>T, XM_017025904.2:c.2148C>T, XM_017025904.1:c.2058C>T, XM_017025909.2:c.1434C>T, XM_017025909.1:c.1434C>T, XM_017025911.2:c.2073C>T, XM_017025911.1:c.2073C>T, XM_017025910.2:c.2148C>T, XM_017025910.1:c.2058C>T, XM_017025912.2:c.2148C>T, XM_017025912.1:c.2058C>T, XM_047437714.1:c.2073C>T, XM_047437715.1:c.2073C>T, XM_047437716.1:c.2073C>T, XM_047437717.1:c.2073C>T, NM_001378147.1:c.1434C>T, XM_047437718.1:c.1434C>T, NM_001378145.1:c.1434C>T, NM_001378146.1:c.1434C>T, XM_047437719.1:c.1434C>T, NM_001378144.1:c.1434C>T, XM_047437720.1:c.1434C>T, NM_001378143.1:c.1434C>T, NM_001378142.1:c.1434C>T, XM_047437724.1:c.2073C>T, XM_047437723.1:c.2073C>T, XM_047437722.1:c.2148C>T, XM_047437721.1:c.2148C>T

            6.

            rs1483683230 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:7955374 (GRCh38)
              18:7955372 (GRCh37)
              Canonical SPDI:
              NC_000018.10:7955373:C:T
              Gene:
              PTPRM (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000018.10:g.7955374C>T, NC_000018.9:g.7955372C>T, NM_002845.4:c.1092C>T, NM_002845.3:c.1092C>T, XM_011525708.3:c.1092C>T, XM_011525708.2:c.1092C>T, XM_011525708.1:c.1092C>T, XM_011525712.3:c.1092C>T, XM_011525712.2:c.1092C>T, XM_011525712.1:c.1092C>T, NM_001105244.2:c.1092C>T, NM_001105244.1:c.1092C>T, XM_017025894.2:c.1167C>T, XM_017025894.1:c.1077C>T, XM_017025895.2:c.1167C>T, XM_017025895.1:c.1077C>T, XM_017025896.2:c.1167C>T, XM_017025896.1:c.1077C>T, XM_017025897.2:c.1167C>T, XM_017025897.1:c.1077C>T, XM_017025898.2:c.1167C>T, XM_017025898.1:c.1077C>T, XM_017025899.2:c.1167C>T, XM_017025899.1:c.1077C>T, XM_017025900.2:c.1167C>T, XM_017025900.1:c.1077C>T, XM_017025901.2:c.1167C>T, XM_017025901.1:c.1077C>T, XM_017025902.2:c.1167C>T, XM_017025902.1:c.1077C>T, XM_017025903.2:c.1167C>T, XM_017025903.1:c.1077C>T, XM_017025904.2:c.1167C>T, XM_017025904.1:c.1077C>T, XM_017025909.2:c.453C>T, XM_017025909.1:c.453C>T, XM_017025911.2:c.1092C>T, XM_017025911.1:c.1092C>T, XM_017025910.2:c.1167C>T, XM_017025910.1:c.1077C>T, XM_017025912.2:c.1167C>T, XM_017025912.1:c.1077C>T, XM_047437714.1:c.1092C>T, XM_047437715.1:c.1092C>T, XM_047437716.1:c.1092C>T, XM_047437717.1:c.1092C>T, NM_001378147.1:c.453C>T, XM_047437718.1:c.453C>T, NM_001378145.1:c.453C>T, NM_001378146.1:c.453C>T, XM_047437719.1:c.453C>T, NM_001378144.1:c.453C>T, XM_047437720.1:c.453C>T, NM_001378143.1:c.453C>T, NM_001378142.1:c.453C>T, XM_047437724.1:c.1092C>T, XM_047437723.1:c.1092C>T, XM_047437722.1:c.1167C>T, XM_047437721.1:c.1167C>T

              7.

              rs1483597593 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                18:8143689 (GRCh38)
                18:8143687 (GRCh37)
                Canonical SPDI:
                NC_000018.10:8143688:C:A
                Gene:
                PTPRM (Varview)
                Functional Consequence:
                missense_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_000018.10:g.8143689C>A, NC_000018.9:g.8143687C>A, NM_002845.4:c.2210C>A, NM_002845.3:c.2210C>A, XM_011525708.3:c.2285C>A, XM_011525708.2:c.2285C>A, XM_011525708.1:c.2285C>A, XM_011525712.3:c.2210C>A, XM_011525712.2:c.2210C>A, XM_011525712.1:c.2210C>A, NM_001105244.2:c.2210C>A, NM_001105244.1:c.2210C>A, XM_017025894.2:c.2360C>A, XM_017025894.1:c.2270C>A, XM_017025895.2:c.2360C>A, XM_017025895.1:c.2270C>A, XM_017025896.2:c.2360C>A, XM_017025896.1:c.2270C>A, XM_017025897.2:c.2360C>A, XM_017025897.1:c.2270C>A, XM_017025898.2:c.2360C>A, XM_017025898.1:c.2270C>A, XM_017025899.2:c.2285C>A, XM_017025899.1:c.2195C>A, XM_017025900.2:c.2360C>A, XM_017025900.1:c.2270C>A, XM_017025901.2:c.2285C>A, XM_017025901.1:c.2195C>A, XM_017025902.2:c.2285C>A, XM_017025902.1:c.2195C>A, XM_017025903.2:c.2285C>A, XM_017025903.1:c.2195C>A, XM_017025904.2:c.2285C>A, XM_017025904.1:c.2195C>A, XM_017025909.2:c.1571C>A, XM_017025909.1:c.1571C>A, XM_017025911.2:c.2285C>A, XM_017025911.1:c.2285C>A, XM_017025910.2:c.2360C>A, XM_017025910.1:c.2270C>A, XM_017025912.2:c.2360C>A, XM_017025912.1:c.2270C>A, XM_047437714.1:c.2210C>A, XM_047437715.1:c.2285C>A, XM_047437716.1:c.2210C>A, XM_047437717.1:c.2210C>A, NM_001378147.1:c.1646C>A, XM_047437718.1:c.1646C>A, NM_001378145.1:c.1646C>A, NM_001378146.1:c.1571C>A, XM_047437719.1:c.1571C>A, NM_001378144.1:c.1646C>A, XM_047437720.1:c.1571C>A, NM_001378143.1:c.1571C>A, NM_001378142.1:c.1571C>A, XM_047437724.1:c.2210C>A, XM_047437723.1:c.2210C>A, XM_047437722.1:c.2285C>A, XM_047437721.1:c.2360C>A, NP_002836.3:p.Thr737Lys, XP_011524010.1:p.Thr762Lys, XP_011524014.1:p.Thr737Lys, NP_001098714.1:p.Thr737Lys, XP_016881383.2:p.Thr787Lys, XP_016881384.2:p.Thr787Lys, XP_016881385.2:p.Thr787Lys, XP_016881386.2:p.Thr787Lys, XP_016881387.2:p.Thr787Lys, XP_016881388.2:p.Thr762Lys, XP_016881389.2:p.Thr787Lys, XP_016881390.2:p.Thr762Lys, XP_016881391.2:p.Thr762Lys, XP_016881392.2:p.Thr762Lys, XP_016881393.2:p.Thr762Lys, XP_016881398.1:p.Thr524Lys, XP_016881400.1:p.Thr762Lys, XP_016881399.2:p.Thr787Lys, XP_016881401.2:p.Thr787Lys, XP_047293670.1:p.Thr737Lys, XP_047293671.1:p.Thr762Lys, XP_047293672.1:p.Thr737Lys, XP_047293673.1:p.Thr737Lys, NP_001365076.1:p.Thr549Lys, XP_047293674.1:p.Thr549Lys, NP_001365074.1:p.Thr549Lys, NP_001365075.1:p.Thr524Lys, XP_047293675.1:p.Thr524Lys, NP_001365073.1:p.Thr549Lys, XP_047293676.1:p.Thr524Lys, NP_001365072.1:p.Thr524Lys, NP_001365071.1:p.Thr524Lys, XP_047293680.1:p.Thr737Lys, XP_047293679.1:p.Thr737Lys, XP_047293678.1:p.Thr762Lys, XP_047293677.1:p.Thr787Lys

                8.

                rs1483582452 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  18:8085718 (GRCh38)
                  18:8085716 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:8085717:C:T
                  Gene:
                  PTPRM (Varview)
                  Functional Consequence:
                  synonymous_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)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000018.10:g.8085718C>T, NC_000018.9:g.8085716C>T, NM_002845.4:c.1599C>T, NM_002845.3:c.1599C>T, XM_011525708.3:c.1599C>T, XM_011525708.2:c.1599C>T, XM_011525708.1:c.1599C>T, XM_011525712.3:c.1599C>T, XM_011525712.2:c.1599C>T, XM_011525712.1:c.1599C>T, NM_001105244.2:c.1599C>T, NM_001105244.1:c.1599C>T, XM_017025894.2:c.1674C>T, XM_017025894.1:c.1584C>T, XM_017025895.2:c.1674C>T, XM_017025895.1:c.1584C>T, XM_017025896.2:c.1674C>T, XM_017025896.1:c.1584C>T, XM_017025897.2:c.1674C>T, XM_017025897.1:c.1584C>T, XM_017025898.2:c.1674C>T, XM_017025898.1:c.1584C>T, XM_017025899.2:c.1674C>T, XM_017025899.1:c.1584C>T, XM_017025900.2:c.1674C>T, XM_017025900.1:c.1584C>T, XM_017025901.2:c.1674C>T, XM_017025901.1:c.1584C>T, XM_017025902.2:c.1674C>T, XM_017025902.1:c.1584C>T, XM_017025903.2:c.1674C>T, XM_017025903.1:c.1584C>T, XM_017025904.2:c.1674C>T, XM_017025904.1:c.1584C>T, XM_017025909.2:c.960C>T, XM_017025909.1:c.960C>T, XM_017025911.2:c.1599C>T, XM_017025911.1:c.1599C>T, XM_017025910.2:c.1674C>T, XM_017025910.1:c.1584C>T, XM_017025912.2:c.1674C>T, XM_017025912.1:c.1584C>T, XM_047437714.1:c.1599C>T, XM_047437715.1:c.1599C>T, XM_047437716.1:c.1599C>T, XM_047437717.1:c.1599C>T, NM_001378147.1:c.960C>T, XM_047437718.1:c.960C>T, NM_001378145.1:c.960C>T, NM_001378146.1:c.960C>T, XM_047437719.1:c.960C>T, NM_001378144.1:c.960C>T, XM_047437720.1:c.960C>T, NM_001378143.1:c.960C>T, NM_001378142.1:c.960C>T, XM_047437724.1:c.1599C>T, XM_047437723.1:c.1599C>T, XM_047437722.1:c.1674C>T, XM_047437721.1:c.1674C>T

                  9.

                  rs1482978017 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    18:8069764 (GRCh38)
                    18:8069762 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:8069763:G:T
                    Gene:
                    PTPRM (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000018.10:g.8069764G>T, NC_000018.9:g.8069762G>T, NM_002845.4:c.1211G>T, NM_002845.3:c.1211G>T, XM_011525708.3:c.1211G>T, XM_011525708.2:c.1211G>T, XM_011525708.1:c.1211G>T, XM_011525712.3:c.1211G>T, XM_011525712.2:c.1211G>T, XM_011525712.1:c.1211G>T, NM_001105244.2:c.1211G>T, NM_001105244.1:c.1211G>T, XM_017025894.2:c.1286G>T, XM_017025894.1:c.1196G>T, XM_017025895.2:c.1286G>T, XM_017025895.1:c.1196G>T, XM_017025896.2:c.1286G>T, XM_017025896.1:c.1196G>T, XM_017025897.2:c.1286G>T, XM_017025897.1:c.1196G>T, XM_017025898.2:c.1286G>T, XM_017025898.1:c.1196G>T, XM_017025899.2:c.1286G>T, XM_017025899.1:c.1196G>T, XM_017025900.2:c.1286G>T, XM_017025900.1:c.1196G>T, XM_017025901.2:c.1286G>T, XM_017025901.1:c.1196G>T, XM_017025902.2:c.1286G>T, XM_017025902.1:c.1196G>T, XM_017025903.2:c.1286G>T, XM_017025903.1:c.1196G>T, XM_017025904.2:c.1286G>T, XM_017025904.1:c.1196G>T, XM_017025909.2:c.572G>T, XM_017025909.1:c.572G>T, XM_017025911.2:c.1211G>T, XM_017025911.1:c.1211G>T, XM_017025910.2:c.1286G>T, XM_017025910.1:c.1196G>T, XM_017025912.2:c.1286G>T, XM_017025912.1:c.1196G>T, XM_047437714.1:c.1211G>T, XM_047437715.1:c.1211G>T, XM_047437716.1:c.1211G>T, XM_047437717.1:c.1211G>T, NM_001378147.1:c.572G>T, XM_047437718.1:c.572G>T, NM_001378145.1:c.572G>T, NM_001378146.1:c.572G>T, XM_047437719.1:c.572G>T, NM_001378144.1:c.572G>T, XM_047437720.1:c.572G>T, NM_001378143.1:c.572G>T, NM_001378142.1:c.572G>T, XM_047437724.1:c.1211G>T, XM_047437723.1:c.1211G>T, XM_047437722.1:c.1286G>T, XM_047437721.1:c.1286G>T, NP_002836.3:p.Gly404Val, XP_011524010.1:p.Gly404Val, XP_011524014.1:p.Gly404Val, NP_001098714.1:p.Gly404Val, XP_016881383.2:p.Gly429Val, XP_016881384.2:p.Gly429Val, XP_016881385.2:p.Gly429Val, XP_016881386.2:p.Gly429Val, XP_016881387.2:p.Gly429Val, XP_016881388.2:p.Gly429Val, XP_016881389.2:p.Gly429Val, XP_016881390.2:p.Gly429Val, XP_016881391.2:p.Gly429Val, XP_016881392.2:p.Gly429Val, XP_016881393.2:p.Gly429Val, XP_016881398.1:p.Gly191Val, XP_016881400.1:p.Gly404Val, XP_016881399.2:p.Gly429Val, XP_016881401.2:p.Gly429Val, XP_047293670.1:p.Gly404Val, XP_047293671.1:p.Gly404Val, XP_047293672.1:p.Gly404Val, XP_047293673.1:p.Gly404Val, NP_001365076.1:p.Gly191Val, XP_047293674.1:p.Gly191Val, NP_001365074.1:p.Gly191Val, NP_001365075.1:p.Gly191Val, XP_047293675.1:p.Gly191Val, NP_001365073.1:p.Gly191Val, XP_047293676.1:p.Gly191Val, NP_001365072.1:p.Gly191Val, NP_001365071.1:p.Gly191Val, XP_047293680.1:p.Gly404Val, XP_047293679.1:p.Gly404Val, XP_047293678.1:p.Gly429Val, XP_047293677.1:p.Gly429Val

                    10.

                    rs1480590024 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:8143750 (GRCh38)
                      18:8143748 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:8143749:T:C
                      Gene:
                      PTPRM (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.8143750T>C, NC_000018.9:g.8143748T>C, NM_002845.4:c.2271T>C, NM_002845.3:c.2271T>C, XM_011525708.3:c.2346T>C, XM_011525708.2:c.2346T>C, XM_011525708.1:c.2346T>C, XM_011525712.3:c.2271T>C, XM_011525712.2:c.2271T>C, XM_011525712.1:c.2271T>C, NM_001105244.2:c.2271T>C, NM_001105244.1:c.2271T>C, XM_017025894.2:c.2421T>C, XM_017025894.1:c.2331T>C, XM_017025895.2:c.2421T>C, XM_017025895.1:c.2331T>C, XM_017025896.2:c.2421T>C, XM_017025896.1:c.2331T>C, XM_017025897.2:c.2421T>C, XM_017025897.1:c.2331T>C, XM_017025898.2:c.2421T>C, XM_017025898.1:c.2331T>C, XM_017025899.2:c.2346T>C, XM_017025899.1:c.2256T>C, XM_017025900.2:c.2421T>C, XM_017025900.1:c.2331T>C, XM_017025901.2:c.2346T>C, XM_017025901.1:c.2256T>C, XM_017025902.2:c.2346T>C, XM_017025902.1:c.2256T>C, XM_017025903.2:c.2346T>C, XM_017025903.1:c.2256T>C, XM_017025904.2:c.2346T>C, XM_017025904.1:c.2256T>C, XM_017025909.2:c.1632T>C, XM_017025909.1:c.1632T>C, XM_017025911.2:c.2346T>C, XM_017025911.1:c.2346T>C, XM_017025910.2:c.2421T>C, XM_017025910.1:c.2331T>C, XM_017025912.2:c.2421T>C, XM_017025912.1:c.2331T>C, XM_047437714.1:c.2271T>C, XM_047437715.1:c.2346T>C, XM_047437716.1:c.2271T>C, XM_047437717.1:c.2271T>C, NM_001378147.1:c.1707T>C, XM_047437718.1:c.1707T>C, NM_001378145.1:c.1707T>C, NM_001378146.1:c.1632T>C, XM_047437719.1:c.1632T>C, NM_001378144.1:c.1707T>C, XM_047437720.1:c.1632T>C, NM_001378143.1:c.1632T>C, NM_001378142.1:c.1632T>C, XM_047437724.1:c.2271T>C, XM_047437723.1:c.2271T>C, XM_047437722.1:c.2346T>C, XM_047437721.1:c.2421T>C

                      11.

                      rs1479369922 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:7955270 (GRCh38)
                        18:7955268 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:7955269:C:T
                        Gene:
                        PTPRM (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000018.10:g.7955270C>T, NC_000018.9:g.7955268C>T, NM_002845.4:c.988C>T, NM_002845.3:c.988C>T, XM_011525708.3:c.988C>T, XM_011525708.2:c.988C>T, XM_011525708.1:c.988C>T, XM_011525712.3:c.988C>T, XM_011525712.2:c.988C>T, XM_011525712.1:c.988C>T, NM_001105244.2:c.988C>T, NM_001105244.1:c.988C>T, XM_017025894.2:c.1063C>T, XM_017025894.1:c.973C>T, XM_017025895.2:c.1063C>T, XM_017025895.1:c.973C>T, XM_017025896.2:c.1063C>T, XM_017025896.1:c.973C>T, XM_017025897.2:c.1063C>T, XM_017025897.1:c.973C>T, XM_017025898.2:c.1063C>T, XM_017025898.1:c.973C>T, XM_017025899.2:c.1063C>T, XM_017025899.1:c.973C>T, XM_017025900.2:c.1063C>T, XM_017025900.1:c.973C>T, XM_017025901.2:c.1063C>T, XM_017025901.1:c.973C>T, XM_017025902.2:c.1063C>T, XM_017025902.1:c.973C>T, XM_017025903.2:c.1063C>T, XM_017025903.1:c.973C>T, XM_017025904.2:c.1063C>T, XM_017025904.1:c.973C>T, XM_017025909.2:c.349C>T, XM_017025909.1:c.349C>T, XM_017025911.2:c.988C>T, XM_017025911.1:c.988C>T, XM_017025910.2:c.1063C>T, XM_017025910.1:c.973C>T, XM_017025912.2:c.1063C>T, XM_017025912.1:c.973C>T, XM_047437714.1:c.988C>T, XM_047437715.1:c.988C>T, XM_047437716.1:c.988C>T, XM_047437717.1:c.988C>T, NM_001378147.1:c.349C>T, XM_047437718.1:c.349C>T, NM_001378145.1:c.349C>T, NM_001378146.1:c.349C>T, XM_047437719.1:c.349C>T, NM_001378144.1:c.349C>T, XM_047437720.1:c.349C>T, NM_001378143.1:c.349C>T, NM_001378142.1:c.349C>T, XM_047437724.1:c.988C>T, XM_047437723.1:c.988C>T, XM_047437722.1:c.1063C>T, XM_047437721.1:c.1063C>T, NP_002836.3:p.Arg330Trp, XP_011524010.1:p.Arg330Trp, XP_011524014.1:p.Arg330Trp, NP_001098714.1:p.Arg330Trp, XP_016881383.2:p.Arg355Trp, XP_016881384.2:p.Arg355Trp, XP_016881385.2:p.Arg355Trp, XP_016881386.2:p.Arg355Trp, XP_016881387.2:p.Arg355Trp, XP_016881388.2:p.Arg355Trp, XP_016881389.2:p.Arg355Trp, XP_016881390.2:p.Arg355Trp, XP_016881391.2:p.Arg355Trp, XP_016881392.2:p.Arg355Trp, XP_016881393.2:p.Arg355Trp, XP_016881398.1:p.Arg117Trp, XP_016881400.1:p.Arg330Trp, XP_016881399.2:p.Arg355Trp, XP_016881401.2:p.Arg355Trp, XP_047293670.1:p.Arg330Trp, XP_047293671.1:p.Arg330Trp, XP_047293672.1:p.Arg330Trp, XP_047293673.1:p.Arg330Trp, NP_001365076.1:p.Arg117Trp, XP_047293674.1:p.Arg117Trp, NP_001365074.1:p.Arg117Trp, NP_001365075.1:p.Arg117Trp, XP_047293675.1:p.Arg117Trp, NP_001365073.1:p.Arg117Trp, XP_047293676.1:p.Arg117Trp, NP_001365072.1:p.Arg117Trp, NP_001365071.1:p.Arg117Trp, XP_047293680.1:p.Arg330Trp, XP_047293679.1:p.Arg330Trp, XP_047293678.1:p.Arg355Trp, XP_047293677.1:p.Arg355Trp

                        12.

                        rs1478345370 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:8069779 (GRCh38)
                          18:8069777 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:8069778:G:A
                          Gene:
                          PTPRM (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000031/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.8069779G>A, NC_000018.9:g.8069777G>A, NM_002845.4:c.1226G>A, NM_002845.3:c.1226G>A, XM_011525708.3:c.1226G>A, XM_011525708.2:c.1226G>A, XM_011525708.1:c.1226G>A, XM_011525712.3:c.1226G>A, XM_011525712.2:c.1226G>A, XM_011525712.1:c.1226G>A, NM_001105244.2:c.1226G>A, NM_001105244.1:c.1226G>A, XM_017025894.2:c.1301G>A, XM_017025894.1:c.1211G>A, XM_017025895.2:c.1301G>A, XM_017025895.1:c.1211G>A, XM_017025896.2:c.1301G>A, XM_017025896.1:c.1211G>A, XM_017025897.2:c.1301G>A, XM_017025897.1:c.1211G>A, XM_017025898.2:c.1301G>A, XM_017025898.1:c.1211G>A, XM_017025899.2:c.1301G>A, XM_017025899.1:c.1211G>A, XM_017025900.2:c.1301G>A, XM_017025900.1:c.1211G>A, XM_017025901.2:c.1301G>A, XM_017025901.1:c.1211G>A, XM_017025902.2:c.1301G>A, XM_017025902.1:c.1211G>A, XM_017025903.2:c.1301G>A, XM_017025903.1:c.1211G>A, XM_017025904.2:c.1301G>A, XM_017025904.1:c.1211G>A, XM_017025909.2:c.587G>A, XM_017025909.1:c.587G>A, XM_017025911.2:c.1226G>A, XM_017025911.1:c.1226G>A, XM_017025910.2:c.1301G>A, XM_017025910.1:c.1211G>A, XM_017025912.2:c.1301G>A, XM_017025912.1:c.1211G>A, XM_047437714.1:c.1226G>A, XM_047437715.1:c.1226G>A, XM_047437716.1:c.1226G>A, XM_047437717.1:c.1226G>A, NM_001378147.1:c.587G>A, XM_047437718.1:c.587G>A, NM_001378145.1:c.587G>A, NM_001378146.1:c.587G>A, XM_047437719.1:c.587G>A, NM_001378144.1:c.587G>A, XM_047437720.1:c.587G>A, NM_001378143.1:c.587G>A, NM_001378142.1:c.587G>A, XM_047437724.1:c.1226G>A, XM_047437723.1:c.1226G>A, XM_047437722.1:c.1301G>A, XM_047437721.1:c.1301G>A, NP_002836.3:p.Arg409His, XP_011524010.1:p.Arg409His, XP_011524014.1:p.Arg409His, NP_001098714.1:p.Arg409His, XP_016881383.2:p.Arg434His, XP_016881384.2:p.Arg434His, XP_016881385.2:p.Arg434His, XP_016881386.2:p.Arg434His, XP_016881387.2:p.Arg434His, XP_016881388.2:p.Arg434His, XP_016881389.2:p.Arg434His, XP_016881390.2:p.Arg434His, XP_016881391.2:p.Arg434His, XP_016881392.2:p.Arg434His, XP_016881393.2:p.Arg434His, XP_016881398.1:p.Arg196His, XP_016881400.1:p.Arg409His, XP_016881399.2:p.Arg434His, XP_016881401.2:p.Arg434His, XP_047293670.1:p.Arg409His, XP_047293671.1:p.Arg409His, XP_047293672.1:p.Arg409His, XP_047293673.1:p.Arg409His, NP_001365076.1:p.Arg196His, XP_047293674.1:p.Arg196His, NP_001365074.1:p.Arg196His, NP_001365075.1:p.Arg196His, XP_047293675.1:p.Arg196His, NP_001365073.1:p.Arg196His, XP_047293676.1:p.Arg196His, NP_001365072.1:p.Arg196His, NP_001365071.1:p.Arg196His, XP_047293680.1:p.Arg409His, XP_047293679.1:p.Arg409His, XP_047293678.1:p.Arg434His, XP_047293677.1:p.Arg434His

                          13.

                          rs1477423975 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            18:7888287 (GRCh38)
                            18:7888285 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:7888286:G:T
                            Gene:
                            PTPRM (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.7888287G>T, NC_000018.9:g.7888285G>T, NM_002845.4:c.378G>T, NM_002845.3:c.378G>T, XM_011525708.3:c.378G>T, XM_011525708.2:c.378G>T, XM_011525708.1:c.378G>T, XM_011525712.3:c.378G>T, XM_011525712.2:c.378G>T, XM_011525712.1:c.378G>T, NM_001105244.2:c.378G>T, NM_001105244.1:c.378G>T, XM_017025894.2:c.453G>T, XM_017025894.1:c.363G>T, XM_017025895.2:c.453G>T, XM_017025895.1:c.363G>T, XM_017025896.2:c.453G>T, XM_017025896.1:c.363G>T, XM_017025897.2:c.453G>T, XM_017025897.1:c.363G>T, XM_017025898.2:c.453G>T, XM_017025898.1:c.363G>T, XM_017025899.2:c.453G>T, XM_017025899.1:c.363G>T, XM_017025900.2:c.453G>T, XM_017025900.1:c.363G>T, XM_017025901.2:c.453G>T, XM_017025901.1:c.363G>T, XM_017025902.2:c.453G>T, XM_017025902.1:c.363G>T, XM_017025903.2:c.453G>T, XM_017025903.1:c.363G>T, XM_017025904.2:c.453G>T, XM_017025904.1:c.363G>T, XM_017025911.2:c.378G>T, XM_017025911.1:c.378G>T, XM_017025910.2:c.453G>T, XM_017025910.1:c.363G>T, XM_017025912.2:c.453G>T, XM_017025912.1:c.363G>T, XM_047437714.1:c.378G>T, XM_047437715.1:c.378G>T, XM_047437716.1:c.378G>T, XM_047437717.1:c.378G>T, XM_047437724.1:c.378G>T, XM_047437723.1:c.378G>T, XM_047437722.1:c.453G>T, XM_047437721.1:c.453G>T

                            14.

                            rs1477320805 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              18:7949191 (GRCh38)
                              18:7949189 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:7949190:T:C
                              Gene:
                              PTPRM (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.7949191T>C, NC_000018.9:g.7949189T>C, NM_002845.4:c.674T>C, NM_002845.3:c.674T>C, XM_011525708.3:c.674T>C, XM_011525708.2:c.674T>C, XM_011525708.1:c.674T>C, XM_011525712.3:c.674T>C, XM_011525712.2:c.674T>C, XM_011525712.1:c.674T>C, NM_001105244.2:c.674T>C, NM_001105244.1:c.674T>C, XM_017025894.2:c.749T>C, XM_017025894.1:c.659T>C, XM_017025895.2:c.749T>C, XM_017025895.1:c.659T>C, XM_017025896.2:c.749T>C, XM_017025896.1:c.659T>C, XM_017025897.2:c.749T>C, XM_017025897.1:c.659T>C, XM_017025898.2:c.749T>C, XM_017025898.1:c.659T>C, XM_017025899.2:c.749T>C, XM_017025899.1:c.659T>C, XM_017025900.2:c.749T>C, XM_017025900.1:c.659T>C, XM_017025901.2:c.749T>C, XM_017025901.1:c.659T>C, XM_017025902.2:c.749T>C, XM_017025902.1:c.659T>C, XM_017025903.2:c.749T>C, XM_017025903.1:c.659T>C, XM_017025904.2:c.749T>C, XM_017025904.1:c.659T>C, XM_017025909.2:c.35T>C, XM_017025909.1:c.35T>C, XM_017025911.2:c.674T>C, XM_017025911.1:c.674T>C, XM_017025910.2:c.749T>C, XM_017025910.1:c.659T>C, XM_017025912.2:c.749T>C, XM_017025912.1:c.659T>C, XM_047437714.1:c.674T>C, XM_047437715.1:c.674T>C, XM_047437716.1:c.674T>C, XM_047437717.1:c.674T>C, NM_001378147.1:c.35T>C, XM_047437718.1:c.35T>C, NM_001378145.1:c.35T>C, NM_001378146.1:c.35T>C, XM_047437719.1:c.35T>C, NM_001378144.1:c.35T>C, XM_047437720.1:c.35T>C, NM_001378143.1:c.35T>C, NM_001378142.1:c.35T>C, XM_047437724.1:c.674T>C, XM_047437723.1:c.674T>C, XM_047437722.1:c.749T>C, XM_047437721.1:c.749T>C, NP_002836.3:p.Val225Ala, XP_011524010.1:p.Val225Ala, XP_011524014.1:p.Val225Ala, NP_001098714.1:p.Val225Ala, XP_016881383.2:p.Val250Ala, XP_016881384.2:p.Val250Ala, XP_016881385.2:p.Val250Ala, XP_016881386.2:p.Val250Ala, XP_016881387.2:p.Val250Ala, XP_016881388.2:p.Val250Ala, XP_016881389.2:p.Val250Ala, XP_016881390.2:p.Val250Ala, XP_016881391.2:p.Val250Ala, XP_016881392.2:p.Val250Ala, XP_016881393.2:p.Val250Ala, XP_016881398.1:p.Val12Ala, XP_016881400.1:p.Val225Ala, XP_016881399.2:p.Val250Ala, XP_016881401.2:p.Val250Ala, XP_047293670.1:p.Val225Ala, XP_047293671.1:p.Val225Ala, XP_047293672.1:p.Val225Ala, XP_047293673.1:p.Val225Ala, NP_001365076.1:p.Val12Ala, XP_047293674.1:p.Val12Ala, NP_001365074.1:p.Val12Ala, NP_001365075.1:p.Val12Ala, XP_047293675.1:p.Val12Ala, NP_001365073.1:p.Val12Ala, XP_047293676.1:p.Val12Ala, NP_001365072.1:p.Val12Ala, NP_001365071.1:p.Val12Ala, XP_047293680.1:p.Val225Ala, XP_047293679.1:p.Val225Ala, XP_047293678.1:p.Val250Ala, XP_047293677.1:p.Val250Ala

                              15.

                              rs1476991953 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                18:7926570 (GRCh38)
                                18:7926568 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:7926569:A:G
                                Gene:
                                PTPRM (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000018.10:g.7926570A>G, NC_000018.9:g.7926568A>G, NM_002845.4:c.550A>G, NM_002845.3:c.550A>G, XM_011525708.3:c.550A>G, XM_011525708.2:c.550A>G, XM_011525708.1:c.550A>G, XM_011525712.3:c.550A>G, XM_011525712.2:c.550A>G, XM_011525712.1:c.550A>G, NM_001105244.2:c.550A>G, NM_001105244.1:c.550A>G, XM_017025894.2:c.625A>G, XM_017025894.1:c.535A>G, XM_017025895.2:c.625A>G, XM_017025895.1:c.535A>G, XM_017025896.2:c.625A>G, XM_017025896.1:c.535A>G, XM_017025897.2:c.625A>G, XM_017025897.1:c.535A>G, XM_017025898.2:c.625A>G, XM_017025898.1:c.535A>G, XM_017025899.2:c.625A>G, XM_017025899.1:c.535A>G, XM_017025900.2:c.625A>G, XM_017025900.1:c.535A>G, XM_017025901.2:c.625A>G, XM_017025901.1:c.535A>G, XM_017025902.2:c.625A>G, XM_017025902.1:c.535A>G, XM_017025903.2:c.625A>G, XM_017025903.1:c.535A>G, XM_017025904.2:c.625A>G, XM_017025904.1:c.535A>G, XM_017025911.2:c.550A>G, XM_017025911.1:c.550A>G, XM_017025910.2:c.625A>G, XM_017025910.1:c.535A>G, XM_017025912.2:c.625A>G, XM_017025912.1:c.535A>G, XM_047437714.1:c.550A>G, XM_047437715.1:c.550A>G, XM_047437716.1:c.550A>G, XM_047437717.1:c.550A>G, XM_047437724.1:c.550A>G, XM_047437723.1:c.550A>G, XM_047437722.1:c.625A>G, XM_047437721.1:c.625A>G, NP_002836.3:p.Arg184Gly, XP_011524010.1:p.Arg184Gly, XP_011524014.1:p.Arg184Gly, NP_001098714.1:p.Arg184Gly, XP_016881383.2:p.Arg209Gly, XP_016881384.2:p.Arg209Gly, XP_016881385.2:p.Arg209Gly, XP_016881386.2:p.Arg209Gly, XP_016881387.2:p.Arg209Gly, XP_016881388.2:p.Arg209Gly, XP_016881389.2:p.Arg209Gly, XP_016881390.2:p.Arg209Gly, XP_016881391.2:p.Arg209Gly, XP_016881392.2:p.Arg209Gly, XP_016881393.2:p.Arg209Gly, XP_016881400.1:p.Arg184Gly, XP_016881399.2:p.Arg209Gly, XP_016881401.2:p.Arg209Gly, XP_047293670.1:p.Arg184Gly, XP_047293671.1:p.Arg184Gly, XP_047293672.1:p.Arg184Gly, XP_047293673.1:p.Arg184Gly, XP_047293680.1:p.Arg184Gly, XP_047293679.1:p.Arg184Gly, XP_047293678.1:p.Arg209Gly, XP_047293677.1:p.Arg209Gly

                                16.

                                rs1475501552 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  18:7949280 (GRCh38)
                                  18:7949278 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:7949279:G:A
                                  Gene:
                                  PTPRM (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000018.10:g.7949280G>A, NC_000018.9:g.7949278G>A, NM_002845.4:c.763G>A, NM_002845.3:c.763G>A, XM_011525708.3:c.763G>A, XM_011525708.2:c.763G>A, XM_011525708.1:c.763G>A, XM_011525712.3:c.763G>A, XM_011525712.2:c.763G>A, XM_011525712.1:c.763G>A, NM_001105244.2:c.763G>A, NM_001105244.1:c.763G>A, XM_017025894.2:c.838G>A, XM_017025894.1:c.748G>A, XM_017025895.2:c.838G>A, XM_017025895.1:c.748G>A, XM_017025896.2:c.838G>A, XM_017025896.1:c.748G>A, XM_017025897.2:c.838G>A, XM_017025897.1:c.748G>A, XM_017025898.2:c.838G>A, XM_017025898.1:c.748G>A, XM_017025899.2:c.838G>A, XM_017025899.1:c.748G>A, XM_017025900.2:c.838G>A, XM_017025900.1:c.748G>A, XM_017025901.2:c.838G>A, XM_017025901.1:c.748G>A, XM_017025902.2:c.838G>A, XM_017025902.1:c.748G>A, XM_017025903.2:c.838G>A, XM_017025903.1:c.748G>A, XM_017025904.2:c.838G>A, XM_017025904.1:c.748G>A, XM_017025909.2:c.124G>A, XM_017025909.1:c.124G>A, XM_017025911.2:c.763G>A, XM_017025911.1:c.763G>A, XM_017025910.2:c.838G>A, XM_017025910.1:c.748G>A, XM_017025912.2:c.838G>A, XM_017025912.1:c.748G>A, XM_047437714.1:c.763G>A, XM_047437715.1:c.763G>A, XM_047437716.1:c.763G>A, XM_047437717.1:c.763G>A, NM_001378147.1:c.124G>A, XM_047437718.1:c.124G>A, NM_001378145.1:c.124G>A, NM_001378146.1:c.124G>A, XM_047437719.1:c.124G>A, NM_001378144.1:c.124G>A, XM_047437720.1:c.124G>A, NM_001378143.1:c.124G>A, NM_001378142.1:c.124G>A, XM_047437724.1:c.763G>A, XM_047437723.1:c.763G>A, XM_047437722.1:c.838G>A, XM_047437721.1:c.838G>A, NP_002836.3:p.Ala255Thr, XP_011524010.1:p.Ala255Thr, XP_011524014.1:p.Ala255Thr, NP_001098714.1:p.Ala255Thr, XP_016881383.2:p.Ala280Thr, XP_016881384.2:p.Ala280Thr, XP_016881385.2:p.Ala280Thr, XP_016881386.2:p.Ala280Thr, XP_016881387.2:p.Ala280Thr, XP_016881388.2:p.Ala280Thr, XP_016881389.2:p.Ala280Thr, XP_016881390.2:p.Ala280Thr, XP_016881391.2:p.Ala280Thr, XP_016881392.2:p.Ala280Thr, XP_016881393.2:p.Ala280Thr, XP_016881398.1:p.Ala42Thr, XP_016881400.1:p.Ala255Thr, XP_016881399.2:p.Ala280Thr, XP_016881401.2:p.Ala280Thr, XP_047293670.1:p.Ala255Thr, XP_047293671.1:p.Ala255Thr, XP_047293672.1:p.Ala255Thr, XP_047293673.1:p.Ala255Thr, NP_001365076.1:p.Ala42Thr, XP_047293674.1:p.Ala42Thr, NP_001365074.1:p.Ala42Thr, NP_001365075.1:p.Ala42Thr, XP_047293675.1:p.Ala42Thr, NP_001365073.1:p.Ala42Thr, XP_047293676.1:p.Ala42Thr, NP_001365072.1:p.Ala42Thr, NP_001365071.1:p.Ala42Thr, XP_047293680.1:p.Ala255Thr, XP_047293679.1:p.Ala255Thr, XP_047293678.1:p.Ala280Thr, XP_047293677.1:p.Ala280Thr

                                  17.

                                  rs1474848702 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:8069955 (GRCh38)
                                    18:8069953 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:8069954:A:G
                                    Gene:
                                    PTPRM (Varview)
                                    Functional Consequence:
                                    missense_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)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.8069955A>G, NC_000018.9:g.8069953A>G, NM_002845.4:c.1402A>G, NM_002845.3:c.1402A>G, XM_011525708.3:c.1402A>G, XM_011525708.2:c.1402A>G, XM_011525708.1:c.1402A>G, XM_011525712.3:c.1402A>G, XM_011525712.2:c.1402A>G, XM_011525712.1:c.1402A>G, NM_001105244.2:c.1402A>G, NM_001105244.1:c.1402A>G, XM_017025894.2:c.1477A>G, XM_017025894.1:c.1387A>G, XM_017025895.2:c.1477A>G, XM_017025895.1:c.1387A>G, XM_017025896.2:c.1477A>G, XM_017025896.1:c.1387A>G, XM_017025897.2:c.1477A>G, XM_017025897.1:c.1387A>G, XM_017025898.2:c.1477A>G, XM_017025898.1:c.1387A>G, XM_017025899.2:c.1477A>G, XM_017025899.1:c.1387A>G, XM_017025900.2:c.1477A>G, XM_017025900.1:c.1387A>G, XM_017025901.2:c.1477A>G, XM_017025901.1:c.1387A>G, XM_017025902.2:c.1477A>G, XM_017025902.1:c.1387A>G, XM_017025903.2:c.1477A>G, XM_017025903.1:c.1387A>G, XM_017025904.2:c.1477A>G, XM_017025904.1:c.1387A>G, XM_017025909.2:c.763A>G, XM_017025909.1:c.763A>G, XM_017025911.2:c.1402A>G, XM_017025911.1:c.1402A>G, XM_017025910.2:c.1477A>G, XM_017025910.1:c.1387A>G, XM_017025912.2:c.1477A>G, XM_017025912.1:c.1387A>G, XM_047437714.1:c.1402A>G, XM_047437715.1:c.1402A>G, XM_047437716.1:c.1402A>G, XM_047437717.1:c.1402A>G, NM_001378147.1:c.763A>G, XM_047437718.1:c.763A>G, NM_001378145.1:c.763A>G, NM_001378146.1:c.763A>G, XM_047437719.1:c.763A>G, NM_001378144.1:c.763A>G, XM_047437720.1:c.763A>G, NM_001378143.1:c.763A>G, NM_001378142.1:c.763A>G, XM_047437724.1:c.1402A>G, XM_047437723.1:c.1402A>G, XM_047437722.1:c.1477A>G, XM_047437721.1:c.1477A>G, NP_002836.3:p.Lys468Glu, XP_011524010.1:p.Lys468Glu, XP_011524014.1:p.Lys468Glu, NP_001098714.1:p.Lys468Glu, XP_016881383.2:p.Lys493Glu, XP_016881384.2:p.Lys493Glu, XP_016881385.2:p.Lys493Glu, XP_016881386.2:p.Lys493Glu, XP_016881387.2:p.Lys493Glu, XP_016881388.2:p.Lys493Glu, XP_016881389.2:p.Lys493Glu, XP_016881390.2:p.Lys493Glu, XP_016881391.2:p.Lys493Glu, XP_016881392.2:p.Lys493Glu, XP_016881393.2:p.Lys493Glu, XP_016881398.1:p.Lys255Glu, XP_016881400.1:p.Lys468Glu, XP_016881399.2:p.Lys493Glu, XP_016881401.2:p.Lys493Glu, XP_047293670.1:p.Lys468Glu, XP_047293671.1:p.Lys468Glu, XP_047293672.1:p.Lys468Glu, XP_047293673.1:p.Lys468Glu, NP_001365076.1:p.Lys255Glu, XP_047293674.1:p.Lys255Glu, NP_001365074.1:p.Lys255Glu, NP_001365075.1:p.Lys255Glu, XP_047293675.1:p.Lys255Glu, NP_001365073.1:p.Lys255Glu, XP_047293676.1:p.Lys255Glu, NP_001365072.1:p.Lys255Glu, NP_001365071.1:p.Lys255Glu, XP_047293680.1:p.Lys468Glu, XP_047293679.1:p.Lys468Glu, XP_047293678.1:p.Lys493Glu, XP_047293677.1:p.Lys493Glu

                                    18.

                                    rs1473080420 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      18:8158776 (GRCh38)
                                      18:8158774 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:8158775:G:A
                                      Gene:
                                      PTPRM (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:

                                      19.

                                      rs1470710577 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        18:7955201 (GRCh38)
                                        18:7955199 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:7955200:A:G
                                        Gene:
                                        PTPRM (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.7955201A>G, NC_000018.9:g.7955199A>G, NM_002845.4:c.919A>G, NM_002845.3:c.919A>G, XM_011525708.3:c.919A>G, XM_011525708.2:c.919A>G, XM_011525708.1:c.919A>G, XM_011525712.3:c.919A>G, XM_011525712.2:c.919A>G, XM_011525712.1:c.919A>G, NM_001105244.2:c.919A>G, NM_001105244.1:c.919A>G, XM_017025894.2:c.994A>G, XM_017025894.1:c.904A>G, XM_017025895.2:c.994A>G, XM_017025895.1:c.904A>G, XM_017025896.2:c.994A>G, XM_017025896.1:c.904A>G, XM_017025897.2:c.994A>G, XM_017025897.1:c.904A>G, XM_017025898.2:c.994A>G, XM_017025898.1:c.904A>G, XM_017025899.2:c.994A>G, XM_017025899.1:c.904A>G, XM_017025900.2:c.994A>G, XM_017025900.1:c.904A>G, XM_017025901.2:c.994A>G, XM_017025901.1:c.904A>G, XM_017025902.2:c.994A>G, XM_017025902.1:c.904A>G, XM_017025903.2:c.994A>G, XM_017025903.1:c.904A>G, XM_017025904.2:c.994A>G, XM_017025904.1:c.904A>G, XM_017025909.2:c.280A>G, XM_017025909.1:c.280A>G, XM_017025911.2:c.919A>G, XM_017025911.1:c.919A>G, XM_017025910.2:c.994A>G, XM_017025910.1:c.904A>G, XM_017025912.2:c.994A>G, XM_017025912.1:c.904A>G, XM_047437714.1:c.919A>G, XM_047437715.1:c.919A>G, XM_047437716.1:c.919A>G, XM_047437717.1:c.919A>G, NM_001378147.1:c.280A>G, XM_047437718.1:c.280A>G, NM_001378145.1:c.280A>G, NM_001378146.1:c.280A>G, XM_047437719.1:c.280A>G, NM_001378144.1:c.280A>G, XM_047437720.1:c.280A>G, NM_001378143.1:c.280A>G, NM_001378142.1:c.280A>G, XM_047437724.1:c.919A>G, XM_047437723.1:c.919A>G, XM_047437722.1:c.994A>G, XM_047437721.1:c.994A>G, NP_002836.3:p.Ile307Val, XP_011524010.1:p.Ile307Val, XP_011524014.1:p.Ile307Val, NP_001098714.1:p.Ile307Val, XP_016881383.2:p.Ile332Val, XP_016881384.2:p.Ile332Val, XP_016881385.2:p.Ile332Val, XP_016881386.2:p.Ile332Val, XP_016881387.2:p.Ile332Val, XP_016881388.2:p.Ile332Val, XP_016881389.2:p.Ile332Val, XP_016881390.2:p.Ile332Val, XP_016881391.2:p.Ile332Val, XP_016881392.2:p.Ile332Val, XP_016881393.2:p.Ile332Val, XP_016881398.1:p.Ile94Val, XP_016881400.1:p.Ile307Val, XP_016881399.2:p.Ile332Val, XP_016881401.2:p.Ile332Val, XP_047293670.1:p.Ile307Val, XP_047293671.1:p.Ile307Val, XP_047293672.1:p.Ile307Val, XP_047293673.1:p.Ile307Val, NP_001365076.1:p.Ile94Val, XP_047293674.1:p.Ile94Val, NP_001365074.1:p.Ile94Val, NP_001365075.1:p.Ile94Val, XP_047293675.1:p.Ile94Val, NP_001365073.1:p.Ile94Val, XP_047293676.1:p.Ile94Val, NP_001365072.1:p.Ile94Val, NP_001365071.1:p.Ile94Val, XP_047293680.1:p.Ile307Val, XP_047293679.1:p.Ile307Val, XP_047293678.1:p.Ile332Val, XP_047293677.1:p.Ile332Val

                                        20.

                                        rs1470662491 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          18:8069885 (GRCh38)
                                          18:8069883 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:8069884:C:T
                                          Gene:
                                          PTPRM (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000018.10:g.8069885C>T, NC_000018.9:g.8069883C>T, NM_002845.4:c.1332C>T, NM_002845.3:c.1332C>T, XM_011525708.3:c.1332C>T, XM_011525708.2:c.1332C>T, XM_011525708.1:c.1332C>T, XM_011525712.3:c.1332C>T, XM_011525712.2:c.1332C>T, XM_011525712.1:c.1332C>T, NM_001105244.2:c.1332C>T, NM_001105244.1:c.1332C>T, XM_017025894.2:c.1407C>T, XM_017025894.1:c.1317C>T, XM_017025895.2:c.1407C>T, XM_017025895.1:c.1317C>T, XM_017025896.2:c.1407C>T, XM_017025896.1:c.1317C>T, XM_017025897.2:c.1407C>T, XM_017025897.1:c.1317C>T, XM_017025898.2:c.1407C>T, XM_017025898.1:c.1317C>T, XM_017025899.2:c.1407C>T, XM_017025899.1:c.1317C>T, XM_017025900.2:c.1407C>T, XM_017025900.1:c.1317C>T, XM_017025901.2:c.1407C>T, XM_017025901.1:c.1317C>T, XM_017025902.2:c.1407C>T, XM_017025902.1:c.1317C>T, XM_017025903.2:c.1407C>T, XM_017025903.1:c.1317C>T, XM_017025904.2:c.1407C>T, XM_017025904.1:c.1317C>T, XM_017025909.2:c.693C>T, XM_017025909.1:c.693C>T, XM_017025911.2:c.1332C>T, XM_017025911.1:c.1332C>T, XM_017025910.2:c.1407C>T, XM_017025910.1:c.1317C>T, XM_017025912.2:c.1407C>T, XM_017025912.1:c.1317C>T, XM_047437714.1:c.1332C>T, XM_047437715.1:c.1332C>T, XM_047437716.1:c.1332C>T, XM_047437717.1:c.1332C>T, NM_001378147.1:c.693C>T, XM_047437718.1:c.693C>T, NM_001378145.1:c.693C>T, NM_001378146.1:c.693C>T, XM_047437719.1:c.693C>T, NM_001378144.1:c.693C>T, XM_047437720.1:c.693C>T, NM_001378143.1:c.693C>T, NM_001378142.1:c.693C>T, XM_047437724.1:c.1332C>T, XM_047437723.1:c.1332C>T, XM_047437722.1:c.1407C>T, XM_047437721.1:c.1407C>T

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