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Items: 1 to 20 of 54

1.

rs1479514259 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    10:46984410 (GRCh38)
    10:48754952 (GRCh37)
    Canonical SPDI:
    NC_000010.11:46984409:C:A,NC_000010.11:46984409:C:T
    Gene:
    PTPN20 (Varview)
    Functional Consequence:
    intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000010.11:g.46984410C>A, NC_000010.11:g.46984410C>T, NW_003871068.1:g.1255525C>A, NW_003871068.1:g.1255525C>T, NC_000010.10:g.48754952G>T, NC_000010.10:g.48754952G>A, NM_001042357.5:c.764C>A, NM_001042357.5:c.764C>T, NM_001042357.4:c.764C>A, NM_001042357.4:c.764C>T, NM_001042357.3:c.764C>A, NM_001042357.3:c.764C>T, NM_001042358.5:c.737C>A, NM_001042358.5:c.737C>T, NM_001042358.4:c.737C>A, NM_001042358.4:c.737C>T, NM_001042358.3:c.737C>A, NM_001042358.3:c.737C>T, NM_001042363.5:c.521C>A, NM_001042363.5:c.521C>T, NM_001042363.4:c.521C>A, NM_001042363.4:c.521C>T, NM_001042363.3:c.521C>A, NM_001042363.3:c.521C>T, XM_011539606.4:c.764C>A, XM_011539606.4:c.764C>T, XM_011539606.3:c.764C>A, XM_011539606.3:c.764C>T, XM_011539606.2:c.764C>A, XM_011539606.2:c.764C>T, XM_011539606.1:c.764C>A, XM_011539606.1:c.764C>T, NM_001042360.4:c.188C>A, NM_001042360.4:c.188C>T, NM_001042360.3:c.188C>A, NM_001042360.3:c.188C>T, NM_001042360.2:c.188C>A, NM_001042360.2:c.188C>T, XM_011539607.3:c.764C>A, XM_011539607.3:c.764C>T, XM_011539607.2:c.764C>A, XM_011539607.2:c.764C>T, XM_011539607.1:c.764C>A, XM_011539607.1:c.764C>T, XM_011539605.3:c.764C>A, XM_011539605.3:c.764C>T, XM_011539605.2:c.764C>A, XM_011539605.2:c.764C>T, XM_011539605.1:c.764C>A, XM_011539605.1:c.764C>T, XM_011539610.3:c.521C>A, XM_011539610.3:c.521C>T, XM_011539610.2:c.521C>A, XM_011539610.2:c.521C>T, XM_011539610.1:c.521C>A, XM_011539610.1:c.521C>T, XM_017016045.2:c.644C>A, XM_017016045.2:c.644C>T, XM_017016045.1:c.644C>A, XM_017016045.1:c.644C>T, NM_001320685.2:c.680C>A, NM_001320685.2:c.680C>T, NM_001320685.1:c.680C>A, NM_001320685.1:c.680C>T, NM_001352527.2:c.41C>A, NM_001352527.2:c.41C>T, NM_001352527.1:c.41C>A, NM_001352527.1:c.41C>T, NM_001352521.2:c.680C>A, NM_001352521.2:c.680C>T, NM_001352521.1:c.680C>A, NM_001352521.1:c.680C>T, NM_001320686.2:c.521C>A, NM_001320686.2:c.521C>T, NM_001320686.1:c.521C>A, NM_001320686.1:c.521C>T, NM_001352528.2:c.41C>A, NM_001352528.2:c.41C>T, NM_001352528.1:c.41C>A, NM_001352528.1:c.41C>T, NM_001320681.2:c.521C>A, NM_001320681.2:c.521C>T, NM_001320681.1:c.521C>A, NM_001320681.1:c.521C>T, NM_001320691.2:c.41C>A, NM_001320691.2:c.41C>T, NM_001320691.1:c.41C>A, NM_001320691.1:c.41C>T, NM_001352543.2:c.41C>A, NM_001352543.2:c.41C>T, NM_001352543.1:c.41C>A, NM_001352543.1:c.41C>T, NM_001352525.2:c.41C>A, NM_001352525.2:c.41C>T, NM_001352525.1:c.41C>A, NM_001352525.1:c.41C>T, NM_001352529.2:c.41C>A, NM_001352529.2:c.41C>T, NM_001352529.1:c.41C>A, NM_001352529.1:c.41C>T, NM_001352522.2:c.521C>A, NM_001352522.2:c.521C>T, NM_001352522.1:c.521C>A, NM_001352522.1:c.521C>T, NM_001352530.2:c.41C>A, NM_001352530.2:c.41C>T, NM_001352530.1:c.41C>A, NM_001352530.1:c.41C>T, NM_001352526.2:c.41C>A, NM_001352526.2:c.41C>T, NM_001352526.1:c.41C>A, NM_001352526.1:c.41C>T, NM_001352544.2:c.41C>A, NM_001352544.2:c.41C>T, NM_001352544.1:c.41C>A, NM_001352544.1:c.41C>T, XM_047425020.1:c.41C>A, XM_047425020.1:c.41C>T, XM_047425003.1:c.764C>A, XM_047425003.1:c.764C>T, XM_047425007.1:c.521C>A, XM_047425007.1:c.521C>T, XM_047425005.1:c.680C>A, XM_047425005.1:c.680C>T, XM_047425006.1:c.764C>A, XM_047425006.1:c.764C>T, XM_047425013.1:c.521C>A, XM_047425013.1:c.521C>T, XM_047425009.1:c.500C>A, XM_047425009.1:c.500C>T, XM_047425004.1:c.764C>A, XM_047425004.1:c.764C>T, XM_047425012.1:c.287C>A, XM_047425012.1:c.287C>T, XM_047425022.1:c.41C>A, XM_047425022.1:c.41C>T, XM_047425010.1:c.521C>A, XM_047425010.1:c.521C>T, XM_047425023.1:c.41C>A, XM_047425023.1:c.41C>T, XM_047425008.1:c.764C>A, XM_047425008.1:c.764C>T, NM_001042389.1:c.764C>A, NM_001042389.1:c.764C>T, NM_001042395.1:c.521C>A, NM_001042395.1:c.521C>T, NM_001042390.1:c.737C>A, NM_001042390.1:c.737C>T, NM_001042392.1:c.188C>A, NM_001042392.1:c.188C>T, NP_001035816.1:p.Thr255Asn, NP_001035816.1:p.Thr255Ile, NP_001035817.1:p.Thr246Asn, NP_001035817.1:p.Thr246Ile, NP_001035822.1:p.Thr174Asn, NP_001035822.1:p.Thr174Ile, XP_011537908.1:p.Thr255Asn, XP_011537908.1:p.Thr255Ile, NP_001035819.1:p.Thr63Asn, NP_001035819.1:p.Thr63Ile, XP_011537909.1:p.Thr255Asn, XP_011537909.1:p.Thr255Ile, XP_011537907.1:p.Thr255Asn, XP_011537907.1:p.Thr255Ile, XP_011537912.1:p.Thr174Asn, XP_011537912.1:p.Thr174Ile, XP_016871534.1:p.Thr215Asn, XP_016871534.1:p.Thr215Ile, NP_001307614.1:p.Thr227Asn, NP_001307614.1:p.Thr227Ile, NP_001339456.1:p.Thr14Asn, NP_001339456.1:p.Thr14Ile, NP_001339450.1:p.Thr227Asn, NP_001339450.1:p.Thr227Ile, NP_001307615.1:p.Thr174Asn, NP_001307615.1:p.Thr174Ile, NP_001339457.1:p.Thr14Asn, NP_001339457.1:p.Thr14Ile, NP_001307610.1:p.Thr174Asn, NP_001307610.1:p.Thr174Ile, NP_001307620.1:p.Thr14Asn, NP_001307620.1:p.Thr14Ile, NP_001339472.1:p.Thr14Asn, NP_001339472.1:p.Thr14Ile, NP_001339454.1:p.Thr14Asn, NP_001339454.1:p.Thr14Ile, NP_001339458.1:p.Thr14Asn, NP_001339458.1:p.Thr14Ile, NP_001339451.1:p.Thr174Asn, NP_001339451.1:p.Thr174Ile, NP_001339459.1:p.Thr14Asn, NP_001339459.1:p.Thr14Ile, NP_001339455.1:p.Thr14Asn, NP_001339455.1:p.Thr14Ile, NP_001339473.1:p.Thr14Asn, NP_001339473.1:p.Thr14Ile, XP_047280976.1:p.Thr14Asn, XP_047280976.1:p.Thr14Ile, XP_047280959.1:p.Thr255Asn, XP_047280959.1:p.Thr255Ile, XP_047280963.1:p.Thr174Asn, XP_047280963.1:p.Thr174Ile, XP_047280961.1:p.Thr227Asn, XP_047280961.1:p.Thr227Ile, XP_047280962.1:p.Thr255Asn, XP_047280962.1:p.Thr255Ile, XP_047280969.1:p.Thr174Asn, XP_047280969.1:p.Thr174Ile, XP_047280965.1:p.Thr167Asn, XP_047280965.1:p.Thr167Ile, XP_047280960.1:p.Thr255Asn, XP_047280960.1:p.Thr255Ile, XP_047280968.1:p.Thr96Asn, XP_047280968.1:p.Thr96Ile, XP_047280978.1:p.Thr14Asn, XP_047280978.1:p.Thr14Ile, XP_047280966.1:p.Thr174Asn, XP_047280966.1:p.Thr174Ile, XP_047280979.1:p.Thr14Asn, XP_047280979.1:p.Thr14Ile, XP_047280964.1:p.Thr255Asn, XP_047280964.1:p.Thr255Ile

    2.

    rs1470065522 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AGATAGA [Show Flanks]
      Chromosome:
      10:46984404 (GRCh38)
      10:48754956 (GRCh37)
      Canonical SPDI:
      NC_000010.11:46984404:GA:GAAGATAGA
      Gene:
      PTPN20 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAAGATAGA=0.000337/4 (ALFA)
      GAAGATA=0.000156/1 (1000Genomes)
      GAAGATA=0.000399/56 (GnomAD)
      HGVS:
      NC_000010.11:g.46984406_46984407insAGATAGA, NW_003871068.1:g.1255521_1255522insAGATAGA, NC_000010.10:g.48754957_48754958insTATCTTC, NM_001042357.5:c.760_761insAGATAGA, NM_001042357.4:c.760_761insAGATAGA, NM_001042357.3:c.760_761insAGATAGA, NM_001042358.5:c.733_734insAGATAGA, NM_001042358.4:c.733_734insAGATAGA, NM_001042358.3:c.733_734insAGATAGA, NM_001042363.5:c.517_518insAGATAGA, NM_001042363.4:c.517_518insAGATAGA, NM_001042363.3:c.517_518insAGATAGA, XM_011539606.4:c.760_761insAGATAGA, XM_011539606.3:c.760_761insAGATAGA, XM_011539606.2:c.760_761insAGATAGA, XM_011539606.1:c.760_761insAGATAGA, NM_001042360.4:c.184_185insAGATAGA, NM_001042360.3:c.184_185insAGATAGA, NM_001042360.2:c.184_185insAGATAGA, XM_011539607.3:c.760_761insAGATAGA, XM_011539607.2:c.760_761insAGATAGA, XM_011539607.1:c.760_761insAGATAGA, XM_011539605.3:c.760_761insAGATAGA, XM_011539605.2:c.760_761insAGATAGA, XM_011539605.1:c.760_761insAGATAGA, XM_011539610.3:c.517_518insAGATAGA, XM_011539610.2:c.517_518insAGATAGA, XM_011539610.1:c.517_518insAGATAGA, XM_017016045.2:c.640_641insAGATAGA, XM_017016045.1:c.640_641insAGATAGA, NM_001320685.2:c.676_677insAGATAGA, NM_001320685.1:c.676_677insAGATAGA, NM_001352527.2:c.37_38insAGATAGA, NM_001352527.1:c.37_38insAGATAGA, NM_001352521.2:c.676_677insAGATAGA, NM_001352521.1:c.676_677insAGATAGA, NM_001320686.2:c.517_518insAGATAGA, NM_001320686.1:c.517_518insAGATAGA, NM_001352528.2:c.37_38insAGATAGA, NM_001352528.1:c.37_38insAGATAGA, NM_001320681.2:c.517_518insAGATAGA, NM_001320681.1:c.517_518insAGATAGA, NM_001320691.2:c.37_38insAGATAGA, NM_001320691.1:c.37_38insAGATAGA, NM_001352543.2:c.37_38insAGATAGA, NM_001352543.1:c.37_38insAGATAGA, NM_001352525.2:c.37_38insAGATAGA, NM_001352525.1:c.37_38insAGATAGA, NM_001352529.2:c.37_38insAGATAGA, NM_001352529.1:c.37_38insAGATAGA, NM_001352522.2:c.517_518insAGATAGA, NM_001352522.1:c.517_518insAGATAGA, NM_001352530.2:c.37_38insAGATAGA, NM_001352530.1:c.37_38insAGATAGA, NM_001352526.2:c.37_38insAGATAGA, NM_001352526.1:c.37_38insAGATAGA, NM_001352544.2:c.37_38insAGATAGA, NM_001352544.1:c.37_38insAGATAGA, XM_047425020.1:c.37_38insAGATAGA, XM_047425003.1:c.760_761insAGATAGA, XM_047425007.1:c.517_518insAGATAGA, XM_047425005.1:c.676_677insAGATAGA, XM_047425006.1:c.760_761insAGATAGA, XM_047425013.1:c.517_518insAGATAGA, XM_047425009.1:c.496_497insAGATAGA, XM_047425004.1:c.760_761insAGATAGA, XM_047425012.1:c.283_284insAGATAGA, XM_047425022.1:c.37_38insAGATAGA, XM_047425010.1:c.517_518insAGATAGA, XM_047425023.1:c.37_38insAGATAGA, XM_047425008.1:c.760_761insAGATAGA, NM_001042389.1:c.760_761insAGATAGA, NM_001042395.1:c.517_518insAGATAGA, NM_001042390.1:c.733_734insAGATAGA, NM_001042392.1:c.184_185insAGATAGA, NP_001035816.1:p.Ile254fs, NP_001035817.1:p.Ile245fs, NP_001035822.1:p.Ile173fs, XP_011537908.1:p.Ile254fs, NP_001035819.1:p.Ile62fs, XP_011537909.1:p.Ile254fs, XP_011537907.1:p.Ile254fs, XP_011537912.1:p.Ile173fs, XP_016871534.1:p.Ile214fs, NP_001307614.1:p.Ile226fs, NP_001339456.1:p.Ile13fs, NP_001339450.1:p.Ile226fs, NP_001307615.1:p.Ile173fs, NP_001339457.1:p.Ile13fs, NP_001307610.1:p.Ile173fs, NP_001307620.1:p.Ile13fs, NP_001339472.1:p.Ile13fs, NP_001339454.1:p.Ile13fs, NP_001339458.1:p.Ile13fs, NP_001339451.1:p.Ile173fs, NP_001339459.1:p.Ile13fs, NP_001339455.1:p.Ile13fs, NP_001339473.1:p.Ile13fs, XP_047280976.1:p.Ile13fs, XP_047280959.1:p.Ile254fs, XP_047280963.1:p.Ile173fs, XP_047280961.1:p.Ile226fs, XP_047280962.1:p.Ile254fs, XP_047280969.1:p.Ile173fs, XP_047280965.1:p.Ile166fs, XP_047280960.1:p.Ile254fs, XP_047280968.1:p.Ile95fs, XP_047280978.1:p.Ile13fs, XP_047280966.1:p.Ile173fs, XP_047280979.1:p.Ile13fs, XP_047280964.1:p.Ile254fs

      3.

      rs1468241570 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        10:46984549 (GRCh38)
        10:48754813 (GRCh37)
        Canonical SPDI:
        NC_000010.11:46984548:A:C,NC_000010.11:46984548:A:G
        Gene:
        PTPN20 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.46984549A>C, NC_000010.11:g.46984549A>G, NW_003871068.1:g.1255664A>C, NW_003871068.1:g.1255664A>G, NC_000010.10:g.48754813T>G, NC_000010.10:g.48754813T>C, NM_001042357.5:c.903A>C, NM_001042357.5:c.903A>G, NM_001042357.4:c.903A>C, NM_001042357.4:c.903A>G, NM_001042357.3:c.903A>C, NM_001042357.3:c.903A>G, NM_001042358.5:c.876A>C, NM_001042358.5:c.876A>G, NM_001042358.4:c.876A>C, NM_001042358.4:c.876A>G, NM_001042358.3:c.876A>C, NM_001042358.3:c.876A>G, NM_001042363.5:c.660A>C, NM_001042363.5:c.660A>G, NM_001042363.4:c.660A>C, NM_001042363.4:c.660A>G, NM_001042363.3:c.660A>C, NM_001042363.3:c.660A>G, XM_011539606.4:c.903A>C, XM_011539606.4:c.903A>G, XM_011539606.3:c.903A>C, XM_011539606.3:c.903A>G, XM_011539606.2:c.903A>C, XM_011539606.2:c.903A>G, XM_011539606.1:c.903A>C, XM_011539606.1:c.903A>G, NM_001042360.4:c.327A>C, NM_001042360.4:c.327A>G, NM_001042360.3:c.327A>C, NM_001042360.3:c.327A>G, NM_001042360.2:c.327A>C, NM_001042360.2:c.327A>G, XM_011539607.3:c.903A>C, XM_011539607.3:c.903A>G, XM_011539607.2:c.903A>C, XM_011539607.2:c.903A>G, XM_011539607.1:c.903A>C, XM_011539607.1:c.903A>G, XM_011539605.3:c.903A>C, XM_011539605.3:c.903A>G, XM_011539605.2:c.903A>C, XM_011539605.2:c.903A>G, XM_011539605.1:c.903A>C, XM_011539605.1:c.903A>G, XM_011539610.3:c.660A>C, XM_011539610.3:c.660A>G, XM_011539610.2:c.660A>C, XM_011539610.2:c.660A>G, XM_011539610.1:c.660A>C, XM_011539610.1:c.660A>G, XM_017016045.2:c.783A>C, XM_017016045.2:c.783A>G, XM_017016045.1:c.783A>C, XM_017016045.1:c.783A>G, NM_001320685.2:c.819A>C, NM_001320685.2:c.819A>G, NM_001320685.1:c.819A>C, NM_001320685.1:c.819A>G, NM_001352527.2:c.180A>C, NM_001352527.2:c.180A>G, NM_001352527.1:c.180A>C, NM_001352527.1:c.180A>G, NM_001352521.2:c.819A>C, NM_001352521.2:c.819A>G, NM_001352521.1:c.819A>C, NM_001352521.1:c.819A>G, NM_001320686.2:c.660A>C, NM_001320686.2:c.660A>G, NM_001320686.1:c.660A>C, NM_001320686.1:c.660A>G, NM_001352528.2:c.180A>C, NM_001352528.2:c.180A>G, NM_001352528.1:c.180A>C, NM_001352528.1:c.180A>G, NM_001320681.2:c.660A>C, NM_001320681.2:c.660A>G, NM_001320681.1:c.660A>C, NM_001320681.1:c.660A>G, NM_001320691.2:c.180A>C, NM_001320691.2:c.180A>G, NM_001320691.1:c.180A>C, NM_001320691.1:c.180A>G, NM_001352543.2:c.180A>C, NM_001352543.2:c.180A>G, NM_001352543.1:c.180A>C, NM_001352543.1:c.180A>G, NM_001352525.2:c.180A>C, NM_001352525.2:c.180A>G, NM_001352525.1:c.180A>C, NM_001352525.1:c.180A>G, NM_001352529.2:c.180A>C, NM_001352529.2:c.180A>G, NM_001352529.1:c.180A>C, NM_001352529.1:c.180A>G, NM_001352522.2:c.660A>C, NM_001352522.2:c.660A>G, NM_001352522.1:c.660A>C, NM_001352522.1:c.660A>G, NM_001352530.2:c.180A>C, NM_001352530.2:c.180A>G, NM_001352530.1:c.180A>C, NM_001352530.1:c.180A>G, NM_001352526.2:c.180A>C, NM_001352526.2:c.180A>G, NM_001352526.1:c.180A>C, NM_001352526.1:c.180A>G, NM_001352544.2:c.180A>C, NM_001352544.2:c.180A>G, NM_001352544.1:c.180A>C, NM_001352544.1:c.180A>G, XM_047425020.1:c.180A>C, XM_047425020.1:c.180A>G, XM_047425003.1:c.903A>C, XM_047425003.1:c.903A>G, XM_047425007.1:c.660A>C, XM_047425007.1:c.660A>G, XM_047425005.1:c.819A>C, XM_047425005.1:c.819A>G, XM_047425006.1:c.903A>C, XM_047425006.1:c.903A>G, XM_047425013.1:c.660A>C, XM_047425013.1:c.660A>G, XM_047425009.1:c.639A>C, XM_047425009.1:c.639A>G, XM_047425004.1:c.903A>C, XM_047425004.1:c.903A>G, XM_047425012.1:c.426A>C, XM_047425012.1:c.426A>G, XM_047425022.1:c.180A>C, XM_047425022.1:c.180A>G, XM_047425010.1:c.660A>C, XM_047425010.1:c.660A>G, XM_047425023.1:c.180A>C, XM_047425023.1:c.180A>G, XM_047425008.1:c.903A>C, XM_047425008.1:c.903A>G, NM_001042389.1:c.903A>C, NM_001042389.1:c.903A>G, NM_001042395.1:c.660A>C, NM_001042395.1:c.660A>G, NM_001042390.1:c.876A>C, NM_001042390.1:c.876A>G, NM_001042392.1:c.327A>C, NM_001042392.1:c.327A>G, NP_001035816.1:p.Gln301His, NP_001035817.1:p.Gln292His, NP_001035822.1:p.Gln220His, XP_011537908.1:p.Gln301His, NP_001035819.1:p.Gln109His, XP_011537909.1:p.Gln301His, XP_011537907.1:p.Gln301His, XP_011537912.1:p.Gln220His, XP_016871534.1:p.Gln261His, NP_001307614.1:p.Gln273His, NP_001339456.1:p.Gln60His, NP_001339450.1:p.Gln273His, NP_001307615.1:p.Gln220His, NP_001339457.1:p.Gln60His, NP_001307610.1:p.Gln220His, NP_001307620.1:p.Gln60His, NP_001339472.1:p.Gln60His, NP_001339454.1:p.Gln60His, NP_001339458.1:p.Gln60His, NP_001339451.1:p.Gln220His, NP_001339459.1:p.Gln60His, NP_001339455.1:p.Gln60His, NP_001339473.1:p.Gln60His, XP_047280976.1:p.Gln60His, XP_047280959.1:p.Gln301His, XP_047280963.1:p.Gln220His, XP_047280961.1:p.Gln273His, XP_047280962.1:p.Gln301His, XP_047280969.1:p.Gln220His, XP_047280965.1:p.Gln213His, XP_047280960.1:p.Gln301His, XP_047280968.1:p.Gln142His, XP_047280978.1:p.Gln60His, XP_047280966.1:p.Gln220His, XP_047280979.1:p.Gln60His, XP_047280964.1:p.Gln301His

        4.

        rs1465211510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:46987434 (GRCh38)
          10:48751928 (GRCh37)
          Canonical SPDI:
          NC_000010.11:46987433:G:A
          Gene:
          PTPN20 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.46987434G>A, NW_003871068.1:g.1258549G>A, NC_000010.10:g.48751928C>T, NM_001042357.5:c.1013G>A, NM_001042357.4:c.1013G>A, NM_001042357.3:c.1013G>A, NM_001042358.5:c.986G>A, NM_001042358.4:c.986G>A, NM_001042358.3:c.986G>A, NM_001042363.5:c.770G>A, NM_001042363.4:c.770G>A, NM_001042363.3:c.770G>A, XM_011539606.4:c.1013G>A, XM_011539606.3:c.1013G>A, XM_011539606.2:c.1013G>A, XM_011539606.1:c.1013G>A, NM_001042359.4:c.560G>A, NM_001042359.3:c.560G>A, NM_001042359.2:c.560G>A, NM_001042360.4:c.437G>A, NM_001042360.3:c.437G>A, NM_001042360.2:c.437G>A, XM_011539607.3:c.1013G>A, XM_011539607.2:c.1013G>A, XM_011539607.1:c.1013G>A, XM_011539605.3:c.1013G>A, XM_011539605.2:c.1013G>A, XM_011539605.1:c.1013G>A, XM_011539610.3:c.770G>A, XM_011539610.2:c.770G>A, XM_011539610.1:c.770G>A, XM_017016045.2:c.893G>A, XM_017016045.1:c.893G>A, NM_001320685.2:c.929G>A, NM_001320685.1:c.929G>A, NM_001352527.2:c.290G>A, NM_001352527.1:c.290G>A, NM_001352521.2:c.929G>A, NM_001352521.1:c.929G>A, NM_001320686.2:c.770G>A, NM_001320686.1:c.770G>A, NM_001352528.2:c.290G>A, NM_001352528.1:c.290G>A, NM_001320681.2:c.770G>A, NM_001320681.1:c.770G>A, NM_001320691.2:c.290G>A, NM_001320691.1:c.290G>A, NM_001352525.2:c.290G>A, NM_001352525.1:c.290G>A, NM_001352529.2:c.290G>A, NM_001352529.1:c.290G>A, NM_001352552.2:c.-32G>A, NM_001352552.1:c.-32G>A, NM_001352530.2:c.290G>A, NM_001352530.1:c.290G>A, NM_001352553.2:c.-32G>A, NM_001352553.1:c.-32G>A, NM_001320688.2:c.344G>A, NM_001320688.1:c.344G>A, NM_001352526.2:c.290G>A, NM_001352526.1:c.290G>A, NM_001352554.2:c.-32G>A, NM_001352554.1:c.-32G>A, XM_047425020.1:c.290G>A, XM_047425003.1:c.1013G>A, XM_047425007.1:c.770G>A, XM_047425005.1:c.929G>A, XM_047425009.1:c.749G>A, XM_047425004.1:c.1013G>A, XM_047425012.1:c.536G>A, XM_047425022.1:c.290G>A, XM_047425023.1:c.290G>A, NM_001042389.1:c.1013G>A, NM_001042395.1:c.770G>A, NM_001042390.1:c.986G>A, NM_001042391.1:c.560G>A, NM_001042392.1:c.437G>A, NP_001035816.1:p.Arg338His, NP_001035817.1:p.Arg329His, NP_001035822.1:p.Arg257His, XP_011537908.1:p.Arg338His, NP_001035818.1:p.Arg187His, NP_001035819.1:p.Arg146His, XP_011537909.1:p.Arg338His, XP_011537907.1:p.Arg338His, XP_011537912.1:p.Arg257His, XP_016871534.1:p.Arg298His, NP_001307614.1:p.Arg310His, NP_001339456.1:p.Arg97His, NP_001339450.1:p.Arg310His, NP_001307615.1:p.Arg257His, NP_001339457.1:p.Arg97His, NP_001307610.1:p.Arg257His, NP_001307620.1:p.Arg97His, NP_001339454.1:p.Arg97His, NP_001339458.1:p.Arg97His, NP_001339459.1:p.Arg97His, NP_001307617.1:p.Arg115His, NP_001339455.1:p.Arg97His, XP_047280976.1:p.Arg97His, XP_047280959.1:p.Arg338His, XP_047280963.1:p.Arg257His, XP_047280961.1:p.Arg310His, XP_047280965.1:p.Arg250His, XP_047280960.1:p.Arg338His, XP_047280968.1:p.Arg179His, XP_047280978.1:p.Arg97His, XP_047280979.1:p.Arg97His

          5.

          rs1458598725 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            10:46999961 (GRCh38)
            10:48739401 (GRCh37)
            Canonical SPDI:
            NC_000010.11:46999960:T:C
            Gene:
            PTPN20 (Varview)
            Functional Consequence:
            synonymous_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            HGVS:
            NC_000010.11:g.46999961T>C, NW_003871068.1:g.1271076T>C, NC_000010.10:g.48739401A>G, NM_015605.9:c.633T>C, NM_015605.8:c.633T>C, NM_015605.7:c.633T>C, NM_001042357.5:c.1184T>C, NM_001042357.4:c.1184T>C, NM_001042357.3:c.1184T>C, NM_001042358.5:c.1157T>C, NM_001042358.4:c.1157T>C, NM_001042358.3:c.1157T>C, NM_001042363.5:c.941T>C, NM_001042363.4:c.941T>C, NM_001042363.3:c.941T>C, NM_001042361.5:c.606T>C, NM_001042361.4:c.606T>C, NM_001042361.3:c.606T>C, NM_001042364.5:c.390T>C, NM_001042364.4:c.390T>C, NM_001042364.3:c.390T>C, XM_011539606.4:c.1184T>C, XM_011539606.3:c.1184T>C, XM_011539606.2:c.1184T>C, XM_011539606.1:c.1184T>C, NM_001042359.4:c.731T>C, NM_001042359.3:c.731T>C, NM_001042359.2:c.731T>C, NM_001042360.4:c.608T>C, NM_001042360.3:c.608T>C, NM_001042360.2:c.608T>C, NM_001042362.4:c.363T>C, NM_001042362.3:c.363T>C, NM_001042362.2:c.363T>C, NM_001042365.4:c.147T>C, NM_001042365.3:c.147T>C, NM_001042365.2:c.147T>C, XM_011539607.3:c.1184T>C, XM_011539607.2:c.1184T>C, XM_011539607.1:c.1184T>C, XM_011539605.3:c.1184T>C, XM_011539605.2:c.1184T>C, XM_011539605.1:c.1184T>C, XM_011539610.3:c.941T>C, XM_011539610.2:c.941T>C, XM_011539610.1:c.941T>C, XM_017016045.2:c.1064T>C, XM_017016045.1:c.1064T>C, NM_001320685.2:c.1100T>C, NM_001320685.1:c.1100T>C, NM_001352527.2:c.461T>C, NM_001352527.1:c.461T>C, NM_001352521.2:c.1100T>C, NM_001352521.1:c.1100T>C, NM_001320686.2:c.941T>C, NM_001320686.1:c.941T>C, NM_001352528.2:c.461T>C, NM_001352528.1:c.461T>C, NM_001320681.2:c.941T>C, NM_001320681.1:c.941T>C, NM_001320691.2:c.461T>C, NM_001320691.1:c.461T>C, NM_001352543.2:c.245T>C, NM_001352543.1:c.245T>C, NM_001352525.2:c.461T>C, NM_001352525.1:c.461T>C, NM_001352529.2:c.461T>C, NM_001352529.1:c.461T>C, NM_001352522.2:c.725T>C, NM_001352522.1:c.725T>C, NM_001352552.2:c.140T>C, NM_001352552.1:c.140T>C, NM_001320683.2:c.633T>C, NM_001320683.1:c.633T>C, NM_001352530.2:c.461T>C, NM_001352530.1:c.461T>C, NM_001352553.2:c.140T>C, NM_001352553.1:c.140T>C, NM_001320684.2:c.542T>C, NM_001320684.1:c.542T>C, NM_001320688.2:c.515T>C, NM_001320688.1:c.515T>C, NM_001352523.2:c.549T>C, NM_001352523.1:c.549T>C, NM_001352535.2:c.390T>C, NM_001352535.1:c.390T>C, NM_001352526.2:c.461T>C, NM_001352526.1:c.461T>C, NM_001352534.2:c.458T>C, NM_001352534.1:c.458T>C, NM_001352524.2:c.515T>C, NM_001352524.1:c.515T>C, NM_001352548.2:c.200T>C, NM_001352548.1:c.200T>C, NM_001352533.2:c.390T>C, NM_001352533.1:c.390T>C, NM_001352542.2:c.306T>C, NM_001352542.1:c.306T>C, NM_001352540.2:c.299T>C, NM_001352540.1:c.299T>C, NM_001352531.2:c.390T>C, NM_001352531.1:c.390T>C, NM_001352554.2:c.140T>C, NM_001352554.1:c.140T>C, NM_001352537.2:c.299T>C, NM_001352537.1:c.299T>C, NM_001352539.2:c.299T>C, NM_001352539.1:c.299T>C, NM_001320689.2:c.200T>C, NM_001320689.1:c.200T>C, NM_001352541.2:c.306T>C, NM_001352541.1:c.306T>C, NM_001352538.2:c.299T>C, NM_001352538.1:c.299T>C, NM_001352550.2:c.200T>C, NM_001352550.1:c.200T>C, NM_001352532.2:c.390T>C, NM_001352532.1:c.390T>C, NM_001352544.2:c.245T>C, NM_001352544.1:c.245T>C, NM_001352549.2:c.200T>C, NM_001352549.1:c.200T>C, NM_001352545.2:c.236T>C, NM_001352545.1:c.236T>C, NM_001352547.2:c.200T>C, NM_001352547.1:c.200T>C, NM_001352536.2:c.299T>C, NM_001352536.1:c.299T>C, NM_001320690.2:c.200T>C, NM_001320690.1:c.200T>C, NM_001352555.2:c.147T>C, NM_001352555.1:c.147T>C, NM_001320682.2:c.200T>C, NM_001320682.1:c.200T>C, NM_001352546.2:c.209T>C, NM_001352546.1:c.209T>C, NM_001352551.2:c.170T>C, NM_001352551.1:c.170T>C, NR_148022.2:n.124T>C, NR_148022.1:n.156T>C, NR_148024.2:n.171T>C, NR_148024.1:n.171T>C, NR_148023.2:n.124T>C, NR_148023.1:n.156T>C, XM_047425020.1:c.461T>C, XM_047425003.1:c.1184T>C, XM_047425007.1:c.941T>C, XM_047425025.1:c.390T>C, XM_047425005.1:c.1100T>C, XM_047425006.1:c.968T>C, XM_047425013.1:c.725T>C, XM_047425009.1:c.920T>C, XM_047425004.1:c.1184T>C, XM_047425012.1:c.707T>C, XM_047425022.1:c.461T>C, XM_047425017.1:c.542T>C, XM_047425010.1:c.725T>C, XM_047425015.1:c.542T>C, XM_047425030.1:c.200T>C, XM_047425026.1:c.390T>C, XM_047425018.1:c.515T>C, XM_047425023.1:c.461T>C, XM_047425008.1:c.968T>C, XM_047425024.1:c.458T>C, XM_047425027.1:c.299T>C, XM_047425029.1:c.200T>C, XM_047425033.1:c.147T>C, XM_047425028.1:c.299T>C, XM_047425034.1:c.147T>C, XM_047425031.1:c.147T>C, NM_001042389.1:c.1184T>C, NM_001042395.1:c.941T>C, NM_001042390.1:c.1157T>C, NM_001042387.1:c.633T>C, NM_001042391.1:c.731T>C, NM_001042392.1:c.608T>C, NM_001042393.1:c.606T>C, NM_001042396.1:c.390T>C, NM_001042394.1:c.363T>C, NM_001042397.1:c.147T>C, NP_001035816.1:p.Met395Thr, NP_001035817.1:p.Met386Thr, NP_001035822.1:p.Met314Thr, XP_011537908.1:p.Met395Thr, NP_001035818.1:p.Met244Thr, NP_001035819.1:p.Met203Thr, XP_011537909.1:p.Met395Thr, XP_011537907.1:p.Met395Thr, XP_011537912.1:p.Met314Thr, XP_016871534.1:p.Met355Thr, NP_001307614.1:p.Met367Thr, NP_001339456.1:p.Met154Thr, NP_001339450.1:p.Met367Thr, NP_001307615.1:p.Met314Thr, NP_001339457.1:p.Met154Thr, NP_001307610.1:p.Met314Thr, NP_001307620.1:p.Met154Thr, NP_001339472.1:p.Met82Thr, NP_001339454.1:p.Met154Thr, NP_001339458.1:p.Met154Thr, NP_001339451.1:p.Met242Thr, NP_001339481.1:p.Met47Thr, NP_001339459.1:p.Met154Thr, NP_001339482.1:p.Met47Thr, NP_001307613.1:p.Met181Thr, NP_001307617.1:p.Met172Thr, NP_001339455.1:p.Met154Thr, NP_001339463.1:p.Met153Thr, NP_001339453.1:p.Met172Thr, NP_001339477.1:p.Met67Thr, NP_001339469.1:p.Met100Thr, NP_001339483.1:p.Met47Thr, NP_001339466.1:p.Met100Thr, NP_001339468.1:p.Met100Thr, NP_001307618.1:p.Met67Thr, NP_001339467.1:p.Met100Thr, NP_001339479.1:p.Met67Thr, NP_001339473.1:p.Met82Thr, NP_001339478.1:p.Met67Thr, NP_001339474.1:p.Met79Thr, NP_001339476.1:p.Met67Thr, NP_001339465.1:p.Met100Thr, NP_001307619.1:p.Met67Thr, NP_001307611.1:p.Met67Thr, NP_001339475.1:p.Met70Thr, NP_001339480.1:p.Met57Thr, XP_047280976.1:p.Met154Thr, XP_047280959.1:p.Met395Thr, XP_047280963.1:p.Met314Thr, XP_047280961.1:p.Met367Thr, XP_047280962.1:p.Met323Thr, XP_047280969.1:p.Met242Thr, XP_047280965.1:p.Met307Thr, XP_047280960.1:p.Met395Thr, XP_047280968.1:p.Met236Thr, XP_047280978.1:p.Met154Thr, XP_047280973.1:p.Met181Thr, XP_047280966.1:p.Met242Thr, XP_047280971.1:p.Met181Thr, XP_047280986.1:p.Met67Thr, XP_047280974.1:p.Met172Thr, XP_047280979.1:p.Met154Thr, XP_047280964.1:p.Met323Thr, XP_047280980.1:p.Met153Thr, XP_047280983.1:p.Met100Thr, XP_047280985.1:p.Met67Thr, XP_047280984.1:p.Met100Thr

            6.

            rs1457078510 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:46984533 (GRCh38)
              10:48754829 (GRCh37)
              Canonical SPDI:
              NC_000010.11:46984532:T:C
              Gene:
              PTPN20 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.00008/1 (ALFA)
              HGVS:
              NC_000010.11:g.46984533T>C, NW_003871068.1:g.1255648T>C, NC_000010.10:g.48754829A>G, NM_001042357.5:c.887T>C, NM_001042357.4:c.887T>C, NM_001042357.3:c.887T>C, NM_001042358.5:c.860T>C, NM_001042358.4:c.860T>C, NM_001042358.3:c.860T>C, NM_001042363.5:c.644T>C, NM_001042363.4:c.644T>C, NM_001042363.3:c.644T>C, XM_011539606.4:c.887T>C, XM_011539606.3:c.887T>C, XM_011539606.2:c.887T>C, XM_011539606.1:c.887T>C, NM_001042360.4:c.311T>C, NM_001042360.3:c.311T>C, NM_001042360.2:c.311T>C, XM_011539607.3:c.887T>C, XM_011539607.2:c.887T>C, XM_011539607.1:c.887T>C, XM_011539605.3:c.887T>C, XM_011539605.2:c.887T>C, XM_011539605.1:c.887T>C, XM_011539610.3:c.644T>C, XM_011539610.2:c.644T>C, XM_011539610.1:c.644T>C, XM_017016045.2:c.767T>C, XM_017016045.1:c.767T>C, NM_001320685.2:c.803T>C, NM_001320685.1:c.803T>C, NM_001352527.2:c.164T>C, NM_001352527.1:c.164T>C, NM_001352521.2:c.803T>C, NM_001352521.1:c.803T>C, NM_001320686.2:c.644T>C, NM_001320686.1:c.644T>C, NM_001352528.2:c.164T>C, NM_001352528.1:c.164T>C, NM_001320681.2:c.644T>C, NM_001320681.1:c.644T>C, NM_001320691.2:c.164T>C, NM_001320691.1:c.164T>C, NM_001352543.2:c.164T>C, NM_001352543.1:c.164T>C, NM_001352525.2:c.164T>C, NM_001352525.1:c.164T>C, NM_001352529.2:c.164T>C, NM_001352529.1:c.164T>C, NM_001352522.2:c.644T>C, NM_001352522.1:c.644T>C, NM_001352530.2:c.164T>C, NM_001352530.1:c.164T>C, NM_001352526.2:c.164T>C, NM_001352526.1:c.164T>C, NM_001352544.2:c.164T>C, NM_001352544.1:c.164T>C, XM_047425020.1:c.164T>C, XM_047425003.1:c.887T>C, XM_047425007.1:c.644T>C, XM_047425005.1:c.803T>C, XM_047425006.1:c.887T>C, XM_047425013.1:c.644T>C, XM_047425009.1:c.623T>C, XM_047425004.1:c.887T>C, XM_047425012.1:c.410T>C, XM_047425022.1:c.164T>C, XM_047425010.1:c.644T>C, XM_047425023.1:c.164T>C, XM_047425008.1:c.887T>C, NM_001042389.1:c.887T>C, NM_001042395.1:c.644T>C, NM_001042390.1:c.860T>C, NM_001042392.1:c.311T>C, NP_001035816.1:p.Ile296Thr, NP_001035817.1:p.Ile287Thr, NP_001035822.1:p.Ile215Thr, XP_011537908.1:p.Ile296Thr, NP_001035819.1:p.Ile104Thr, XP_011537909.1:p.Ile296Thr, XP_011537907.1:p.Ile296Thr, XP_011537912.1:p.Ile215Thr, XP_016871534.1:p.Ile256Thr, NP_001307614.1:p.Ile268Thr, NP_001339456.1:p.Ile55Thr, NP_001339450.1:p.Ile268Thr, NP_001307615.1:p.Ile215Thr, NP_001339457.1:p.Ile55Thr, NP_001307610.1:p.Ile215Thr, NP_001307620.1:p.Ile55Thr, NP_001339472.1:p.Ile55Thr, NP_001339454.1:p.Ile55Thr, NP_001339458.1:p.Ile55Thr, NP_001339451.1:p.Ile215Thr, NP_001339459.1:p.Ile55Thr, NP_001339455.1:p.Ile55Thr, NP_001339473.1:p.Ile55Thr, XP_047280976.1:p.Ile55Thr, XP_047280959.1:p.Ile296Thr, XP_047280963.1:p.Ile215Thr, XP_047280961.1:p.Ile268Thr, XP_047280962.1:p.Ile296Thr, XP_047280969.1:p.Ile215Thr, XP_047280965.1:p.Ile208Thr, XP_047280960.1:p.Ile296Thr, XP_047280968.1:p.Ile137Thr, XP_047280978.1:p.Ile55Thr, XP_047280966.1:p.Ile215Thr, XP_047280979.1:p.Ile55Thr, XP_047280964.1:p.Ile296Thr

              7.

              rs1447294416 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                10:46984413 (GRCh38)
                10:48754949 (GRCh37)
                Canonical SPDI:
                NC_000010.11:46984412:G:T
                Gene:
                PTPN20 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.00034/4 (ALFA)
                HGVS:
                NC_000010.11:g.46984413G>T, NW_003871068.1:g.1255528G>T, NC_000010.10:g.48754949C>A, NM_001042357.5:c.767G>T, NM_001042357.4:c.767G>T, NM_001042357.3:c.767G>T, NM_001042358.5:c.740G>T, NM_001042358.4:c.740G>T, NM_001042358.3:c.740G>T, NM_001042363.5:c.524G>T, NM_001042363.4:c.524G>T, NM_001042363.3:c.524G>T, XM_011539606.4:c.767G>T, XM_011539606.3:c.767G>T, XM_011539606.2:c.767G>T, XM_011539606.1:c.767G>T, NM_001042360.4:c.191G>T, NM_001042360.3:c.191G>T, NM_001042360.2:c.191G>T, XM_011539607.3:c.767G>T, XM_011539607.2:c.767G>T, XM_011539607.1:c.767G>T, XM_011539605.3:c.767G>T, XM_011539605.2:c.767G>T, XM_011539605.1:c.767G>T, XM_011539610.3:c.524G>T, XM_011539610.2:c.524G>T, XM_011539610.1:c.524G>T, XM_017016045.2:c.647G>T, XM_017016045.1:c.647G>T, NM_001320685.2:c.683G>T, NM_001320685.1:c.683G>T, NM_001352527.2:c.44G>T, NM_001352527.1:c.44G>T, NM_001352521.2:c.683G>T, NM_001352521.1:c.683G>T, NM_001320686.2:c.524G>T, NM_001320686.1:c.524G>T, NM_001352528.2:c.44G>T, NM_001352528.1:c.44G>T, NM_001320681.2:c.524G>T, NM_001320681.1:c.524G>T, NM_001320691.2:c.44G>T, NM_001320691.1:c.44G>T, NM_001352543.2:c.44G>T, NM_001352543.1:c.44G>T, NM_001352525.2:c.44G>T, NM_001352525.1:c.44G>T, NM_001352529.2:c.44G>T, NM_001352529.1:c.44G>T, NM_001352522.2:c.524G>T, NM_001352522.1:c.524G>T, NM_001352530.2:c.44G>T, NM_001352530.1:c.44G>T, NM_001352526.2:c.44G>T, NM_001352526.1:c.44G>T, NM_001352544.2:c.44G>T, NM_001352544.1:c.44G>T, XM_047425020.1:c.44G>T, XM_047425003.1:c.767G>T, XM_047425007.1:c.524G>T, XM_047425005.1:c.683G>T, XM_047425006.1:c.767G>T, XM_047425013.1:c.524G>T, XM_047425009.1:c.503G>T, XM_047425004.1:c.767G>T, XM_047425012.1:c.290G>T, XM_047425022.1:c.44G>T, XM_047425010.1:c.524G>T, XM_047425023.1:c.44G>T, XM_047425008.1:c.767G>T, NM_001042389.1:c.767G>T, NM_001042395.1:c.524G>T, NM_001042390.1:c.740G>T, NM_001042392.1:c.191G>T, NP_001035816.1:p.Arg256Ile, NP_001035817.1:p.Arg247Ile, NP_001035822.1:p.Arg175Ile, XP_011537908.1:p.Arg256Ile, NP_001035819.1:p.Arg64Ile, XP_011537909.1:p.Arg256Ile, XP_011537907.1:p.Arg256Ile, XP_011537912.1:p.Arg175Ile, XP_016871534.1:p.Arg216Ile, NP_001307614.1:p.Arg228Ile, NP_001339456.1:p.Arg15Ile, NP_001339450.1:p.Arg228Ile, NP_001307615.1:p.Arg175Ile, NP_001339457.1:p.Arg15Ile, NP_001307610.1:p.Arg175Ile, NP_001307620.1:p.Arg15Ile, NP_001339472.1:p.Arg15Ile, NP_001339454.1:p.Arg15Ile, NP_001339458.1:p.Arg15Ile, NP_001339451.1:p.Arg175Ile, NP_001339459.1:p.Arg15Ile, NP_001339455.1:p.Arg15Ile, NP_001339473.1:p.Arg15Ile, XP_047280976.1:p.Arg15Ile, XP_047280959.1:p.Arg256Ile, XP_047280963.1:p.Arg175Ile, XP_047280961.1:p.Arg228Ile, XP_047280962.1:p.Arg256Ile, XP_047280969.1:p.Arg175Ile, XP_047280965.1:p.Arg168Ile, XP_047280960.1:p.Arg256Ile, XP_047280968.1:p.Arg97Ile, XP_047280978.1:p.Arg15Ile, XP_047280966.1:p.Arg175Ile, XP_047280979.1:p.Arg15Ile, XP_047280964.1:p.Arg256Ile

                8.

                rs1442548590 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  10:47000694 (GRCh38)
                  10:48738667 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:47000694:A:AA
                  Gene:
                  PTPN20 (Varview)
                  Functional Consequence:
                  stop_gained,non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000010.11:g.47000695dup, NW_003871068.1:g.1271810dup, NC_000010.10:g.48738667dup, NM_015605.9:c.666dup, NM_015605.8:c.666dup, NM_015605.7:c.666dup, NM_001042357.5:c.1217dup, NM_001042357.4:c.1217dup, NM_001042357.3:c.1217dup, NM_001042358.5:c.1190dup, NM_001042358.4:c.1190dup, NM_001042358.3:c.1190dup, NM_001042363.5:c.974dup, NM_001042363.4:c.974dup, NM_001042363.3:c.974dup, NM_001042361.5:c.639dup, NM_001042361.4:c.639dup, NM_001042361.3:c.639dup, NM_001042364.5:c.423dup, NM_001042364.4:c.423dup, NM_001042364.3:c.423dup, XM_011539606.4:c.1217dup, XM_011539606.3:c.1217dup, XM_011539606.2:c.1217dup, XM_011539606.1:c.1217dup, NM_001042359.4:c.764dup, NM_001042359.3:c.764dup, NM_001042359.2:c.764dup, NM_001042360.4:c.641dup, NM_001042360.3:c.641dup, NM_001042360.2:c.641dup, NM_001042362.4:c.396dup, NM_001042362.3:c.396dup, NM_001042362.2:c.396dup, NM_001042365.4:c.180dup, NM_001042365.3:c.180dup, NM_001042365.2:c.180dup, XM_011539607.3:c.1217dup, XM_011539607.2:c.1217dup, XM_011539607.1:c.1217dup, XM_011539605.3:c.1217dup, XM_011539605.2:c.1217dup, XM_011539605.1:c.1217dup, XM_011539610.3:c.974dup, XM_011539610.2:c.974dup, XM_011539610.1:c.974dup, XM_017016045.2:c.1097dup, XM_017016045.1:c.1097dup, NM_001320685.2:c.1133dup, NM_001320685.1:c.1133dup, NM_001352527.2:c.494dup, NM_001352527.1:c.494dup, NM_001352521.2:c.1133dup, NM_001352521.1:c.1133dup, NM_001320686.2:c.974dup, NM_001320686.1:c.974dup, NM_001352528.2:c.494dup, NM_001352528.1:c.494dup, NM_001320681.2:c.974dup, NM_001320681.1:c.974dup, NM_001320691.2:c.494dup, NM_001320691.1:c.494dup, NM_001352543.2:c.278dup, NM_001352543.1:c.278dup, NM_001352525.2:c.494dup, NM_001352525.1:c.494dup, NM_001352529.2:c.494dup, NM_001352529.1:c.494dup, NM_001352522.2:c.758dup, NM_001352522.1:c.758dup, NM_001352552.2:c.173dup, NM_001352552.1:c.173dup, NM_001320683.2:c.666dup, NM_001320683.1:c.666dup, NM_001352530.2:c.494dup, NM_001352530.1:c.494dup, NM_001352553.2:c.173dup, NM_001352553.1:c.173dup, NM_001320684.2:c.575dup, NM_001320684.1:c.575dup, NM_001320688.2:c.548dup, NM_001320688.1:c.548dup, NM_001352523.2:c.582dup, NM_001352523.1:c.582dup, NM_001352535.2:c.*102dup, NM_001352535.1:c.*102dup, NM_001352526.2:c.494dup, NM_001352526.1:c.494dup, NM_001352534.2:c.491dup, NM_001352534.1:c.491dup, NM_001352524.2:c.548dup, NM_001352524.1:c.548dup, NM_001352548.2:c.233dup, NM_001352548.1:c.233dup, NM_001352533.2:c.423dup, NM_001352533.1:c.423dup, NM_001352542.2:c.339dup, NM_001352542.1:c.339dup, NM_001352540.2:c.*80dup, NM_001352540.1:c.*80dup, NM_001352531.2:c.423dup, NM_001352531.1:c.423dup, NM_001352554.2:c.173dup, NM_001352554.1:c.173dup, NM_001352537.2:c.332dup, NM_001352537.1:c.332dup, NM_001352539.2:c.332dup, NM_001352539.1:c.332dup, NM_001320689.2:c.233dup, NM_001320689.1:c.233dup, NM_001352541.2:c.339dup, NM_001352541.1:c.339dup, NM_001352538.2:c.332dup, NM_001352538.1:c.332dup, NM_001352550.2:c.*80dup, NM_001352550.1:c.*80dup, NM_001352532.2:c.423dup, NM_001352532.1:c.423dup, NM_001352544.2:c.278dup, NM_001352544.1:c.278dup, NM_001352549.2:c.*80dup, NM_001352549.1:c.*80dup, NM_001352545.2:c.269dup, NM_001352545.1:c.269dup, NM_001352547.2:c.233dup, NM_001352547.1:c.233dup, NM_001352536.2:c.332dup, NM_001352536.1:c.332dup, NM_001320690.2:c.233dup, NM_001320690.1:c.233dup, NM_001352555.2:c.*102dup, NM_001352555.1:c.*102dup, NM_001320682.2:c.233dup, NM_001320682.1:c.233dup, NM_001352546.2:c.242dup, NM_001352546.1:c.242dup, NM_001352551.2:c.203dup, NM_001352551.1:c.203dup, NR_148022.2:n.259dup, NR_148022.1:n.291dup, NR_148024.2:n.204dup, NR_148024.1:n.204dup, NR_148023.2:n.157dup, NR_148023.1:n.189dup, XM_047425020.1:c.494dup, XM_047425003.1:c.*80dup, XM_047425007.1:c.974dup, XM_047425025.1:c.423dup, XM_047425005.1:c.1133dup, XM_047425006.1:c.1001dup, XM_047425013.1:c.*80dup, XM_047425009.1:c.953dup, XM_047425012.1:c.740dup, XM_047425022.1:c.494dup, XM_047425017.1:c.*80dup, XM_047425010.1:c.758dup, XM_047425015.1:c.575dup, XM_047425030.1:c.*80dup, XM_047425026.1:c.*102dup, XM_047425018.1:c.*80dup, XM_047425023.1:c.494dup, XM_047425024.1:c.491dup, XM_047425027.1:c.*80dup, XM_047425029.1:c.233dup, XM_047425033.1:c.*102dup, XM_047425028.1:c.*80dup, XM_047425034.1:c.*102dup, XM_047425031.1:c.180dup, NM_001042389.1:c.1217dup, NM_001042395.1:c.974dup, NM_001042390.1:c.1190dup, NM_001042387.1:c.666dup, NM_001042391.1:c.764dup, NM_001042392.1:c.641dup, NM_001042393.1:c.639dup, NM_001042396.1:c.423dup, NM_001042394.1:c.396dup, NM_001042397.1:c.180dup, NP_056420.3:p.Arg223fs, NP_001035816.1:p.Tyr406Ter, NP_001035817.1:p.Tyr397Ter, NP_001035822.1:p.Tyr325Ter, NP_001035820.1:p.Arg214fs, NP_001035823.1:p.Arg142fs, XP_011537908.1:p.Tyr406Ter, NP_001035818.1:p.Tyr255Ter, NP_001035819.1:p.Tyr214Ter, NP_001035821.1:p.Arg133fs, NP_001035824.1:p.Arg61fs, XP_011537909.1:p.Tyr406Ter, XP_011537907.1:p.Tyr406Ter, XP_011537912.1:p.Tyr325Ter, XP_016871534.1:p.Tyr366Ter, NP_001307614.1:p.Tyr378Ter, NP_001339456.1:p.Tyr165Ter, NP_001339450.1:p.Tyr378Ter, NP_001307615.1:p.Tyr325Ter, NP_001339457.1:p.Tyr165Ter, NP_001307610.1:p.Tyr325Ter, NP_001307620.1:p.Tyr165Ter, NP_001339472.1:p.Tyr93Ter, NP_001339454.1:p.Tyr165Ter, NP_001339458.1:p.Tyr165Ter, NP_001339451.1:p.Tyr253Ter, NP_001339481.1:p.Tyr58Ter, NP_001307612.1:p.Arg223fs, NP_001339459.1:p.Tyr165Ter, NP_001339482.1:p.Tyr58Ter, NP_001307613.1:p.Tyr192Ter, NP_001307617.1:p.Tyr183Ter, NP_001339452.1:p.Arg195fs, NP_001339455.1:p.Tyr165Ter, NP_001339463.1:p.Tyr164Ter, NP_001339453.1:p.Tyr183Ter, NP_001339477.1:p.Tyr78Ter, NP_001339462.1:p.Arg142fs, NP_001339471.1:p.Arg114fs, NP_001339460.1:p.Arg142fs, NP_001339483.1:p.Tyr58Ter, NP_001339466.1:p.Tyr111Ter, NP_001339468.1:p.Tyr111Ter, NP_001307618.1:p.Tyr78Ter, NP_001339470.1:p.Arg114fs, NP_001339467.1:p.Tyr111Ter, NP_001339461.1:p.Arg142fs, NP_001339473.1:p.Tyr93Ter, NP_001339474.1:p.Tyr90Ter, NP_001339476.1:p.Tyr78Ter, NP_001339465.1:p.Tyr111Ter, NP_001307619.1:p.Tyr78Ter, NP_001307611.1:p.Tyr78Ter, NP_001339475.1:p.Tyr81Ter, NP_001339480.1:p.Tyr68Ter, XP_047280976.1:p.Tyr165Ter, XP_047280963.1:p.Tyr325Ter, XP_047280981.1:p.Arg142fs, XP_047280961.1:p.Tyr378Ter, XP_047280962.1:p.Tyr334Ter, XP_047280965.1:p.Tyr318Ter, XP_047280968.1:p.Tyr247Ter, XP_047280978.1:p.Tyr165Ter, XP_047280966.1:p.Tyr253Ter, XP_047280971.1:p.Tyr192Ter, XP_047280979.1:p.Tyr165Ter, XP_047280980.1:p.Tyr164Ter, XP_047280985.1:p.Tyr78Ter, XP_047280987.1:p.Arg61fs

                  9.

                  rs1431011511 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    10:46984511 (GRCh38)
                    10:48754851 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:46984510:T:G
                    Gene:
                    PTPN20 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000010.11:g.46984511T>G, NW_003871068.1:g.1255626T>G, NC_000010.10:g.48754851A>C, NM_001042357.5:c.865T>G, NM_001042357.4:c.865T>G, NM_001042357.3:c.865T>G, NM_001042358.5:c.838T>G, NM_001042358.4:c.838T>G, NM_001042358.3:c.838T>G, NM_001042363.5:c.622T>G, NM_001042363.4:c.622T>G, NM_001042363.3:c.622T>G, XM_011539606.4:c.865T>G, XM_011539606.3:c.865T>G, XM_011539606.2:c.865T>G, XM_011539606.1:c.865T>G, NM_001042360.4:c.289T>G, NM_001042360.3:c.289T>G, NM_001042360.2:c.289T>G, XM_011539607.3:c.865T>G, XM_011539607.2:c.865T>G, XM_011539607.1:c.865T>G, XM_011539605.3:c.865T>G, XM_011539605.2:c.865T>G, XM_011539605.1:c.865T>G, XM_011539610.3:c.622T>G, XM_011539610.2:c.622T>G, XM_011539610.1:c.622T>G, XM_017016045.2:c.745T>G, XM_017016045.1:c.745T>G, NM_001320685.2:c.781T>G, NM_001320685.1:c.781T>G, NM_001352527.2:c.142T>G, NM_001352527.1:c.142T>G, NM_001352521.2:c.781T>G, NM_001352521.1:c.781T>G, NM_001320686.2:c.622T>G, NM_001320686.1:c.622T>G, NM_001352528.2:c.142T>G, NM_001352528.1:c.142T>G, NM_001320681.2:c.622T>G, NM_001320681.1:c.622T>G, NM_001320691.2:c.142T>G, NM_001320691.1:c.142T>G, NM_001352543.2:c.142T>G, NM_001352543.1:c.142T>G, NM_001352525.2:c.142T>G, NM_001352525.1:c.142T>G, NM_001352529.2:c.142T>G, NM_001352529.1:c.142T>G, NM_001352522.2:c.622T>G, NM_001352522.1:c.622T>G, NM_001352530.2:c.142T>G, NM_001352530.1:c.142T>G, NM_001352526.2:c.142T>G, NM_001352526.1:c.142T>G, NM_001352544.2:c.142T>G, NM_001352544.1:c.142T>G, XM_047425020.1:c.142T>G, XM_047425003.1:c.865T>G, XM_047425007.1:c.622T>G, XM_047425005.1:c.781T>G, XM_047425006.1:c.865T>G, XM_047425013.1:c.622T>G, XM_047425009.1:c.601T>G, XM_047425004.1:c.865T>G, XM_047425012.1:c.388T>G, XM_047425022.1:c.142T>G, XM_047425010.1:c.622T>G, XM_047425023.1:c.142T>G, XM_047425008.1:c.865T>G, NM_001042389.1:c.865T>G, NM_001042395.1:c.622T>G, NM_001042390.1:c.838T>G, NM_001042392.1:c.289T>G, NP_001035816.1:p.Tyr289Asp, NP_001035817.1:p.Tyr280Asp, NP_001035822.1:p.Tyr208Asp, XP_011537908.1:p.Tyr289Asp, NP_001035819.1:p.Tyr97Asp, XP_011537909.1:p.Tyr289Asp, XP_011537907.1:p.Tyr289Asp, XP_011537912.1:p.Tyr208Asp, XP_016871534.1:p.Tyr249Asp, NP_001307614.1:p.Tyr261Asp, NP_001339456.1:p.Tyr48Asp, NP_001339450.1:p.Tyr261Asp, NP_001307615.1:p.Tyr208Asp, NP_001339457.1:p.Tyr48Asp, NP_001307610.1:p.Tyr208Asp, NP_001307620.1:p.Tyr48Asp, NP_001339472.1:p.Tyr48Asp, NP_001339454.1:p.Tyr48Asp, NP_001339458.1:p.Tyr48Asp, NP_001339451.1:p.Tyr208Asp, NP_001339459.1:p.Tyr48Asp, NP_001339455.1:p.Tyr48Asp, NP_001339473.1:p.Tyr48Asp, XP_047280976.1:p.Tyr48Asp, XP_047280959.1:p.Tyr289Asp, XP_047280963.1:p.Tyr208Asp, XP_047280961.1:p.Tyr261Asp, XP_047280962.1:p.Tyr289Asp, XP_047280969.1:p.Tyr208Asp, XP_047280965.1:p.Tyr201Asp, XP_047280960.1:p.Tyr289Asp, XP_047280968.1:p.Tyr130Asp, XP_047280978.1:p.Tyr48Asp, XP_047280966.1:p.Tyr208Asp, XP_047280979.1:p.Tyr48Asp, XP_047280964.1:p.Tyr289Asp

                    10.

                    rs1430669679 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      10:46984405 (GRCh38)
                      10:48754957 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:46984404:G:C
                      Gene:
                      PTPN20 (Varview)
                      Functional Consequence:
                      missense_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000010.11:g.46984405G>C, NW_003871068.1:g.1255520G>C, NC_000010.10:g.48754957C>G, NM_001042357.5:c.759G>C, NM_001042357.4:c.759G>C, NM_001042357.3:c.759G>C, NM_001042358.5:c.732G>C, NM_001042358.4:c.732G>C, NM_001042358.3:c.732G>C, NM_001042363.5:c.516G>C, NM_001042363.4:c.516G>C, NM_001042363.3:c.516G>C, XM_011539606.4:c.759G>C, XM_011539606.3:c.759G>C, XM_011539606.2:c.759G>C, XM_011539606.1:c.759G>C, NM_001042360.4:c.183G>C, NM_001042360.3:c.183G>C, NM_001042360.2:c.183G>C, XM_011539607.3:c.759G>C, XM_011539607.2:c.759G>C, XM_011539607.1:c.759G>C, XM_011539605.3:c.759G>C, XM_011539605.2:c.759G>C, XM_011539605.1:c.759G>C, XM_011539610.3:c.516G>C, XM_011539610.2:c.516G>C, XM_011539610.1:c.516G>C, XM_017016045.2:c.639G>C, XM_017016045.1:c.639G>C, NM_001320685.2:c.675G>C, NM_001320685.1:c.675G>C, NM_001352527.2:c.36G>C, NM_001352527.1:c.36G>C, NM_001352521.2:c.675G>C, NM_001352521.1:c.675G>C, NM_001320686.2:c.516G>C, NM_001320686.1:c.516G>C, NM_001352528.2:c.36G>C, NM_001352528.1:c.36G>C, NM_001320681.2:c.516G>C, NM_001320681.1:c.516G>C, NM_001320691.2:c.36G>C, NM_001320691.1:c.36G>C, NM_001352543.2:c.36G>C, NM_001352543.1:c.36G>C, NM_001352525.2:c.36G>C, NM_001352525.1:c.36G>C, NM_001352529.2:c.36G>C, NM_001352529.1:c.36G>C, NM_001352522.2:c.516G>C, NM_001352522.1:c.516G>C, NM_001352530.2:c.36G>C, NM_001352530.1:c.36G>C, NM_001352526.2:c.36G>C, NM_001352526.1:c.36G>C, NM_001352544.2:c.36G>C, NM_001352544.1:c.36G>C, XM_047425020.1:c.36G>C, XM_047425003.1:c.759G>C, XM_047425007.1:c.516G>C, XM_047425005.1:c.675G>C, XM_047425006.1:c.759G>C, XM_047425013.1:c.516G>C, XM_047425009.1:c.495G>C, XM_047425004.1:c.759G>C, XM_047425012.1:c.282G>C, XM_047425022.1:c.36G>C, XM_047425010.1:c.516G>C, XM_047425023.1:c.36G>C, XM_047425008.1:c.759G>C, NM_001042389.1:c.759G>C, NM_001042395.1:c.516G>C, NM_001042390.1:c.732G>C, NM_001042392.1:c.183G>C, NP_001035816.1:p.Met253Ile, NP_001035817.1:p.Met244Ile, NP_001035822.1:p.Met172Ile, XP_011537908.1:p.Met253Ile, NP_001035819.1:p.Met61Ile, XP_011537909.1:p.Met253Ile, XP_011537907.1:p.Met253Ile, XP_011537912.1:p.Met172Ile, XP_016871534.1:p.Met213Ile, NP_001307614.1:p.Met225Ile, NP_001339456.1:p.Met12Ile, NP_001339450.1:p.Met225Ile, NP_001307615.1:p.Met172Ile, NP_001339457.1:p.Met12Ile, NP_001307610.1:p.Met172Ile, NP_001307620.1:p.Met12Ile, NP_001339472.1:p.Met12Ile, NP_001339454.1:p.Met12Ile, NP_001339458.1:p.Met12Ile, NP_001339451.1:p.Met172Ile, NP_001339459.1:p.Met12Ile, NP_001339455.1:p.Met12Ile, NP_001339473.1:p.Met12Ile, XP_047280976.1:p.Met12Ile, XP_047280959.1:p.Met253Ile, XP_047280963.1:p.Met172Ile, XP_047280961.1:p.Met225Ile, XP_047280962.1:p.Met253Ile, XP_047280969.1:p.Met172Ile, XP_047280965.1:p.Met165Ile, XP_047280960.1:p.Met253Ile, XP_047280968.1:p.Met94Ile, XP_047280978.1:p.Met12Ile, XP_047280966.1:p.Met172Ile, XP_047280979.1:p.Met12Ile, XP_047280964.1:p.Met253Ile

                      11.

                      rs1424553935 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:46984550 (GRCh38)
                        10:48754812 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:46984549:G:A
                        Gene:
                        PTPN20 (Varview)
                        Functional Consequence:
                        missense_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.46984550G>A, NW_003871068.1:g.1255665G>A, NC_000010.10:g.48754812C>T, NM_001042357.5:c.904G>A, NM_001042357.4:c.904G>A, NM_001042357.3:c.904G>A, NM_001042358.5:c.877G>A, NM_001042358.4:c.877G>A, NM_001042358.3:c.877G>A, NM_001042363.5:c.661G>A, NM_001042363.4:c.661G>A, NM_001042363.3:c.661G>A, XM_011539606.4:c.904G>A, XM_011539606.3:c.904G>A, XM_011539606.2:c.904G>A, XM_011539606.1:c.904G>A, NM_001042360.4:c.328G>A, NM_001042360.3:c.328G>A, NM_001042360.2:c.328G>A, XM_011539607.3:c.904G>A, XM_011539607.2:c.904G>A, XM_011539607.1:c.904G>A, XM_011539605.3:c.904G>A, XM_011539605.2:c.904G>A, XM_011539605.1:c.904G>A, XM_011539610.3:c.661G>A, XM_011539610.2:c.661G>A, XM_011539610.1:c.661G>A, XM_017016045.2:c.784G>A, XM_017016045.1:c.784G>A, NM_001320685.2:c.820G>A, NM_001320685.1:c.820G>A, NM_001352527.2:c.181G>A, NM_001352527.1:c.181G>A, NM_001352521.2:c.820G>A, NM_001352521.1:c.820G>A, NM_001320686.2:c.661G>A, NM_001320686.1:c.661G>A, NM_001352528.2:c.181G>A, NM_001352528.1:c.181G>A, NM_001320681.2:c.661G>A, NM_001320681.1:c.661G>A, NM_001320691.2:c.181G>A, NM_001320691.1:c.181G>A, NM_001352543.2:c.181G>A, NM_001352543.1:c.181G>A, NM_001352525.2:c.181G>A, NM_001352525.1:c.181G>A, NM_001352529.2:c.181G>A, NM_001352529.1:c.181G>A, NM_001352522.2:c.661G>A, NM_001352522.1:c.661G>A, NM_001352530.2:c.181G>A, NM_001352530.1:c.181G>A, NM_001352526.2:c.181G>A, NM_001352526.1:c.181G>A, NM_001352544.2:c.181G>A, NM_001352544.1:c.181G>A, XM_047425020.1:c.181G>A, XM_047425003.1:c.904G>A, XM_047425007.1:c.661G>A, XM_047425005.1:c.820G>A, XM_047425006.1:c.904G>A, XM_047425013.1:c.661G>A, XM_047425009.1:c.640G>A, XM_047425004.1:c.904G>A, XM_047425012.1:c.427G>A, XM_047425022.1:c.181G>A, XM_047425010.1:c.661G>A, XM_047425023.1:c.181G>A, XM_047425008.1:c.904G>A, NM_001042389.1:c.904G>A, NM_001042395.1:c.661G>A, NM_001042390.1:c.877G>A, NM_001042392.1:c.328G>A, NP_001035816.1:p.Val302Ile, NP_001035817.1:p.Val293Ile, NP_001035822.1:p.Val221Ile, XP_011537908.1:p.Val302Ile, NP_001035819.1:p.Val110Ile, XP_011537909.1:p.Val302Ile, XP_011537907.1:p.Val302Ile, XP_011537912.1:p.Val221Ile, XP_016871534.1:p.Val262Ile, NP_001307614.1:p.Val274Ile, NP_001339456.1:p.Val61Ile, NP_001339450.1:p.Val274Ile, NP_001307615.1:p.Val221Ile, NP_001339457.1:p.Val61Ile, NP_001307610.1:p.Val221Ile, NP_001307620.1:p.Val61Ile, NP_001339472.1:p.Val61Ile, NP_001339454.1:p.Val61Ile, NP_001339458.1:p.Val61Ile, NP_001339451.1:p.Val221Ile, NP_001339459.1:p.Val61Ile, NP_001339455.1:p.Val61Ile, NP_001339473.1:p.Val61Ile, XP_047280976.1:p.Val61Ile, XP_047280959.1:p.Val302Ile, XP_047280963.1:p.Val221Ile, XP_047280961.1:p.Val274Ile, XP_047280962.1:p.Val302Ile, XP_047280969.1:p.Val221Ile, XP_047280965.1:p.Val214Ile, XP_047280960.1:p.Val302Ile, XP_047280968.1:p.Val143Ile, XP_047280978.1:p.Val61Ile, XP_047280966.1:p.Val221Ile, XP_047280979.1:p.Val61Ile, XP_047280964.1:p.Val302Ile

                        12.

                        rs1407423328 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:46984538 (GRCh38)
                          10:48754824 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:46984537:C:T
                          Gene:
                          PTPN20 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000084/1 (ALFA)
                          T=0.000037/5 (GnomAD)
                          T=0.000312/2 (1000Genomes)
                          HGVS:
                          NC_000010.11:g.46984538C>T, NW_003871068.1:g.1255653C>T, NC_000010.10:g.48754824G>A, NM_001042357.5:c.892C>T, NM_001042357.4:c.892C>T, NM_001042357.3:c.892C>T, NM_001042358.5:c.865C>T, NM_001042358.4:c.865C>T, NM_001042358.3:c.865C>T, NM_001042363.5:c.649C>T, NM_001042363.4:c.649C>T, NM_001042363.3:c.649C>T, XM_011539606.4:c.892C>T, XM_011539606.3:c.892C>T, XM_011539606.2:c.892C>T, XM_011539606.1:c.892C>T, NM_001042360.4:c.316C>T, NM_001042360.3:c.316C>T, NM_001042360.2:c.316C>T, XM_011539607.3:c.892C>T, XM_011539607.2:c.892C>T, XM_011539607.1:c.892C>T, XM_011539605.3:c.892C>T, XM_011539605.2:c.892C>T, XM_011539605.1:c.892C>T, XM_011539610.3:c.649C>T, XM_011539610.2:c.649C>T, XM_011539610.1:c.649C>T, XM_017016045.2:c.772C>T, XM_017016045.1:c.772C>T, NM_001320685.2:c.808C>T, NM_001320685.1:c.808C>T, NM_001352527.2:c.169C>T, NM_001352527.1:c.169C>T, NM_001352521.2:c.808C>T, NM_001352521.1:c.808C>T, NM_001320686.2:c.649C>T, NM_001320686.1:c.649C>T, NM_001352528.2:c.169C>T, NM_001352528.1:c.169C>T, NM_001320681.2:c.649C>T, NM_001320681.1:c.649C>T, NM_001320691.2:c.169C>T, NM_001320691.1:c.169C>T, NM_001352543.2:c.169C>T, NM_001352543.1:c.169C>T, NM_001352525.2:c.169C>T, NM_001352525.1:c.169C>T, NM_001352529.2:c.169C>T, NM_001352529.1:c.169C>T, NM_001352522.2:c.649C>T, NM_001352522.1:c.649C>T, NM_001352530.2:c.169C>T, NM_001352530.1:c.169C>T, NM_001352526.2:c.169C>T, NM_001352526.1:c.169C>T, NM_001352544.2:c.169C>T, NM_001352544.1:c.169C>T, XM_047425020.1:c.169C>T, XM_047425003.1:c.892C>T, XM_047425007.1:c.649C>T, XM_047425005.1:c.808C>T, XM_047425006.1:c.892C>T, XM_047425013.1:c.649C>T, XM_047425009.1:c.628C>T, XM_047425004.1:c.892C>T, XM_047425012.1:c.415C>T, XM_047425022.1:c.169C>T, XM_047425010.1:c.649C>T, XM_047425023.1:c.169C>T, XM_047425008.1:c.892C>T, NM_001042389.1:c.892C>T, NM_001042395.1:c.649C>T, NM_001042390.1:c.865C>T, NM_001042392.1:c.316C>T, NP_001035816.1:p.Arg298Ter, NP_001035817.1:p.Arg289Ter, NP_001035822.1:p.Arg217Ter, XP_011537908.1:p.Arg298Ter, NP_001035819.1:p.Arg106Ter, XP_011537909.1:p.Arg298Ter, XP_011537907.1:p.Arg298Ter, XP_011537912.1:p.Arg217Ter, XP_016871534.1:p.Arg258Ter, NP_001307614.1:p.Arg270Ter, NP_001339456.1:p.Arg57Ter, NP_001339450.1:p.Arg270Ter, NP_001307615.1:p.Arg217Ter, NP_001339457.1:p.Arg57Ter, NP_001307610.1:p.Arg217Ter, NP_001307620.1:p.Arg57Ter, NP_001339472.1:p.Arg57Ter, NP_001339454.1:p.Arg57Ter, NP_001339458.1:p.Arg57Ter, NP_001339451.1:p.Arg217Ter, NP_001339459.1:p.Arg57Ter, NP_001339455.1:p.Arg57Ter, NP_001339473.1:p.Arg57Ter, XP_047280976.1:p.Arg57Ter, XP_047280959.1:p.Arg298Ter, XP_047280963.1:p.Arg217Ter, XP_047280961.1:p.Arg270Ter, XP_047280962.1:p.Arg298Ter, XP_047280969.1:p.Arg217Ter, XP_047280965.1:p.Arg210Ter, XP_047280960.1:p.Arg298Ter, XP_047280968.1:p.Arg139Ter, XP_047280978.1:p.Arg57Ter, XP_047280966.1:p.Arg217Ter, XP_047280979.1:p.Arg57Ter, XP_047280964.1:p.Arg298Ter

                          13.

                          rs1403713529 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:46987341 (GRCh38)
                            10:48752021 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:46987340:C:T
                            Gene:
                            PTPN20 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00025/3 (ALFA)
                            T=0.00012/1 (TOMMO)
                            HGVS:
                            NC_000010.11:g.46987341C>T, NW_003871068.1:g.1258456C>T, NC_000010.10:g.48752021G>A, NM_001042357.5:c.920C>T, NM_001042357.4:c.920C>T, NM_001042357.3:c.920C>T, NM_001042358.5:c.893C>T, NM_001042358.4:c.893C>T, NM_001042358.3:c.893C>T, NM_001042363.5:c.677C>T, NM_001042363.4:c.677C>T, NM_001042363.3:c.677C>T, XM_011539606.4:c.920C>T, XM_011539606.3:c.920C>T, XM_011539606.2:c.920C>T, XM_011539606.1:c.920C>T, NM_001042359.4:c.467C>T, NM_001042359.3:c.467C>T, NM_001042359.2:c.467C>T, NM_001042360.4:c.344C>T, NM_001042360.3:c.344C>T, NM_001042360.2:c.344C>T, XM_011539607.3:c.920C>T, XM_011539607.2:c.920C>T, XM_011539607.1:c.920C>T, XM_011539605.3:c.920C>T, XM_011539605.2:c.920C>T, XM_011539605.1:c.920C>T, XM_011539610.3:c.677C>T, XM_011539610.2:c.677C>T, XM_011539610.1:c.677C>T, XM_017016045.2:c.800C>T, XM_017016045.1:c.800C>T, NM_001320685.2:c.836C>T, NM_001320685.1:c.836C>T, NM_001352527.2:c.197C>T, NM_001352527.1:c.197C>T, NM_001352521.2:c.836C>T, NM_001352521.1:c.836C>T, NM_001320686.2:c.677C>T, NM_001320686.1:c.677C>T, NM_001352528.2:c.197C>T, NM_001352528.1:c.197C>T, NM_001320681.2:c.677C>T, NM_001320681.1:c.677C>T, NM_001320691.2:c.197C>T, NM_001320691.1:c.197C>T, NM_001352525.2:c.197C>T, NM_001352525.1:c.197C>T, NM_001352529.2:c.197C>T, NM_001352529.1:c.197C>T, NM_001352552.2:c.-125C>T, NM_001352552.1:c.-125C>T, NM_001352530.2:c.197C>T, NM_001352530.1:c.197C>T, NM_001352553.2:c.-125C>T, NM_001352553.1:c.-125C>T, NM_001320688.2:c.251C>T, NM_001320688.1:c.251C>T, NM_001352526.2:c.197C>T, NM_001352526.1:c.197C>T, NM_001352554.2:c.-125C>T, NM_001352554.1:c.-125C>T, XM_047425020.1:c.197C>T, XM_047425003.1:c.920C>T, XM_047425007.1:c.677C>T, XM_047425005.1:c.836C>T, XM_047425009.1:c.656C>T, XM_047425004.1:c.920C>T, XM_047425012.1:c.443C>T, XM_047425022.1:c.197C>T, XM_047425023.1:c.197C>T, NM_001042389.1:c.920C>T, NM_001042395.1:c.677C>T, NM_001042390.1:c.893C>T, NM_001042391.1:c.467C>T, NM_001042392.1:c.344C>T, NP_001035816.1:p.Thr307Met, NP_001035817.1:p.Thr298Met, NP_001035822.1:p.Thr226Met, XP_011537908.1:p.Thr307Met, NP_001035818.1:p.Thr156Met, NP_001035819.1:p.Thr115Met, XP_011537909.1:p.Thr307Met, XP_011537907.1:p.Thr307Met, XP_011537912.1:p.Thr226Met, XP_016871534.1:p.Thr267Met, NP_001307614.1:p.Thr279Met, NP_001339456.1:p.Thr66Met, NP_001339450.1:p.Thr279Met, NP_001307615.1:p.Thr226Met, NP_001339457.1:p.Thr66Met, NP_001307610.1:p.Thr226Met, NP_001307620.1:p.Thr66Met, NP_001339454.1:p.Thr66Met, NP_001339458.1:p.Thr66Met, NP_001339459.1:p.Thr66Met, NP_001307617.1:p.Thr84Met, NP_001339455.1:p.Thr66Met, XP_047280976.1:p.Thr66Met, XP_047280959.1:p.Thr307Met, XP_047280963.1:p.Thr226Met, XP_047280961.1:p.Thr279Met, XP_047280965.1:p.Thr219Met, XP_047280960.1:p.Thr307Met, XP_047280968.1:p.Thr148Met, XP_047280978.1:p.Thr66Met, XP_047280979.1:p.Thr66Met

                            14.

                            rs1401593466 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              10:46984387 (GRCh38)
                              10:48754975 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:46984386:T:G
                              Gene:
                              PTPN20 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              G=0.000142/4 (TOMMO)
                              HGVS:
                              NC_000010.11:g.46984387T>G, NW_003871068.1:g.1255502T>G, NC_000010.10:g.48754975A>C, NM_001042357.5:c.741T>G, NM_001042357.4:c.741T>G, NM_001042357.3:c.741T>G, NM_001042358.5:c.714T>G, NM_001042358.4:c.714T>G, NM_001042358.3:c.714T>G, NM_001042363.5:c.498T>G, NM_001042363.4:c.498T>G, NM_001042363.3:c.498T>G, XM_011539606.4:c.741T>G, XM_011539606.3:c.741T>G, XM_011539606.2:c.741T>G, XM_011539606.1:c.741T>G, NM_001042360.4:c.165T>G, NM_001042360.3:c.165T>G, NM_001042360.2:c.165T>G, XM_011539607.3:c.741T>G, XM_011539607.2:c.741T>G, XM_011539607.1:c.741T>G, XM_011539605.3:c.741T>G, XM_011539605.2:c.741T>G, XM_011539605.1:c.741T>G, XM_011539610.3:c.498T>G, XM_011539610.2:c.498T>G, XM_011539610.1:c.498T>G, XM_017016045.2:c.621T>G, XM_017016045.1:c.621T>G, NM_001320685.2:c.657T>G, NM_001320685.1:c.657T>G, NM_001352527.2:c.18T>G, NM_001352527.1:c.18T>G, NM_001352521.2:c.657T>G, NM_001352521.1:c.657T>G, NM_001320686.2:c.498T>G, NM_001320686.1:c.498T>G, NM_001352528.2:c.18T>G, NM_001352528.1:c.18T>G, NM_001320681.2:c.498T>G, NM_001320681.1:c.498T>G, NM_001320691.2:c.18T>G, NM_001320691.1:c.18T>G, NM_001352543.2:c.18T>G, NM_001352543.1:c.18T>G, NM_001352525.2:c.18T>G, NM_001352525.1:c.18T>G, NM_001352529.2:c.18T>G, NM_001352529.1:c.18T>G, NM_001352522.2:c.498T>G, NM_001352522.1:c.498T>G, NM_001352530.2:c.18T>G, NM_001352530.1:c.18T>G, NM_001352526.2:c.18T>G, NM_001352526.1:c.18T>G, NM_001352544.2:c.18T>G, NM_001352544.1:c.18T>G, XM_047425020.1:c.18T>G, XM_047425003.1:c.741T>G, XM_047425007.1:c.498T>G, XM_047425005.1:c.657T>G, XM_047425006.1:c.741T>G, XM_047425013.1:c.498T>G, XM_047425009.1:c.477T>G, XM_047425004.1:c.741T>G, XM_047425012.1:c.264T>G, XM_047425022.1:c.18T>G, XM_047425010.1:c.498T>G, XM_047425023.1:c.18T>G, XM_047425008.1:c.741T>G, XM_047425019.1:c.*92T>G, NM_001042389.1:c.741T>G, NM_001042395.1:c.498T>G, NM_001042390.1:c.714T>G, NM_001042392.1:c.165T>G, NP_001035816.1:p.Asn247Lys, NP_001035817.1:p.Asn238Lys, NP_001035822.1:p.Asn166Lys, XP_011537908.1:p.Asn247Lys, NP_001035819.1:p.Asn55Lys, XP_011537909.1:p.Asn247Lys, XP_011537907.1:p.Asn247Lys, XP_011537912.1:p.Asn166Lys, XP_016871534.1:p.Asn207Lys, NP_001307614.1:p.Asn219Lys, NP_001339456.1:p.Asn6Lys, NP_001339450.1:p.Asn219Lys, NP_001307615.1:p.Asn166Lys, NP_001339457.1:p.Asn6Lys, NP_001307610.1:p.Asn166Lys, NP_001307620.1:p.Asn6Lys, NP_001339472.1:p.Asn6Lys, NP_001339454.1:p.Asn6Lys, NP_001339458.1:p.Asn6Lys, NP_001339451.1:p.Asn166Lys, NP_001339459.1:p.Asn6Lys, NP_001339455.1:p.Asn6Lys, NP_001339473.1:p.Asn6Lys, XP_047280976.1:p.Asn6Lys, XP_047280959.1:p.Asn247Lys, XP_047280963.1:p.Asn166Lys, XP_047280961.1:p.Asn219Lys, XP_047280962.1:p.Asn247Lys, XP_047280969.1:p.Asn166Lys, XP_047280965.1:p.Asn159Lys, XP_047280960.1:p.Asn247Lys, XP_047280968.1:p.Asn88Lys, XP_047280978.1:p.Asn6Lys, XP_047280966.1:p.Asn166Lys, XP_047280979.1:p.Asn6Lys, XP_047280964.1:p.Asn247Lys

                              15.

                              rs1387605148 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                10:46984389 (GRCh38)
                                10:48754973 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:46984388:C:G
                                Gene:
                                PTPN20 (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000023/6 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                NC_000010.11:g.46984389C>G, NW_003871068.1:g.1255504C>G, NC_000010.10:g.48754973G>C, NM_001042357.5:c.743C>G, NM_001042357.4:c.743C>G, NM_001042357.3:c.743C>G, NM_001042358.5:c.716C>G, NM_001042358.4:c.716C>G, NM_001042358.3:c.716C>G, NM_001042363.5:c.500C>G, NM_001042363.4:c.500C>G, NM_001042363.3:c.500C>G, XM_011539606.4:c.743C>G, XM_011539606.3:c.743C>G, XM_011539606.2:c.743C>G, XM_011539606.1:c.743C>G, NM_001042360.4:c.167C>G, NM_001042360.3:c.167C>G, NM_001042360.2:c.167C>G, XM_011539607.3:c.743C>G, XM_011539607.2:c.743C>G, XM_011539607.1:c.743C>G, XM_011539605.3:c.743C>G, XM_011539605.2:c.743C>G, XM_011539605.1:c.743C>G, XM_011539610.3:c.500C>G, XM_011539610.2:c.500C>G, XM_011539610.1:c.500C>G, XM_017016045.2:c.623C>G, XM_017016045.1:c.623C>G, NM_001320685.2:c.659C>G, NM_001320685.1:c.659C>G, NM_001352527.2:c.20C>G, NM_001352527.1:c.20C>G, NM_001352521.2:c.659C>G, NM_001352521.1:c.659C>G, NM_001320686.2:c.500C>G, NM_001320686.1:c.500C>G, NM_001352528.2:c.20C>G, NM_001352528.1:c.20C>G, NM_001320681.2:c.500C>G, NM_001320681.1:c.500C>G, NM_001320691.2:c.20C>G, NM_001320691.1:c.20C>G, NM_001352543.2:c.20C>G, NM_001352543.1:c.20C>G, NM_001352525.2:c.20C>G, NM_001352525.1:c.20C>G, NM_001352529.2:c.20C>G, NM_001352529.1:c.20C>G, NM_001352522.2:c.500C>G, NM_001352522.1:c.500C>G, NM_001352530.2:c.20C>G, NM_001352530.1:c.20C>G, NM_001352526.2:c.20C>G, NM_001352526.1:c.20C>G, NM_001352544.2:c.20C>G, NM_001352544.1:c.20C>G, XM_047425020.1:c.20C>G, XM_047425003.1:c.743C>G, XM_047425007.1:c.500C>G, XM_047425005.1:c.659C>G, XM_047425006.1:c.743C>G, XM_047425013.1:c.500C>G, XM_047425009.1:c.479C>G, XM_047425004.1:c.743C>G, XM_047425012.1:c.266C>G, XM_047425022.1:c.20C>G, XM_047425010.1:c.500C>G, XM_047425023.1:c.20C>G, XM_047425008.1:c.743C>G, XM_047425019.1:c.*94C>G, NM_001042389.1:c.743C>G, NM_001042395.1:c.500C>G, NM_001042390.1:c.716C>G, NM_001042392.1:c.167C>G, NP_001035816.1:p.Ser248Ter, NP_001035817.1:p.Ser239Ter, NP_001035822.1:p.Ser167Ter, XP_011537908.1:p.Ser248Ter, NP_001035819.1:p.Ser56Ter, XP_011537909.1:p.Ser248Ter, XP_011537907.1:p.Ser248Ter, XP_011537912.1:p.Ser167Ter, XP_016871534.1:p.Ser208Ter, NP_001307614.1:p.Ser220Ter, NP_001339456.1:p.Ser7Ter, NP_001339450.1:p.Ser220Ter, NP_001307615.1:p.Ser167Ter, NP_001339457.1:p.Ser7Ter, NP_001307610.1:p.Ser167Ter, NP_001307620.1:p.Ser7Ter, NP_001339472.1:p.Ser7Ter, NP_001339454.1:p.Ser7Ter, NP_001339458.1:p.Ser7Ter, NP_001339451.1:p.Ser167Ter, NP_001339459.1:p.Ser7Ter, NP_001339455.1:p.Ser7Ter, NP_001339473.1:p.Ser7Ter, XP_047280976.1:p.Ser7Ter, XP_047280959.1:p.Ser248Ter, XP_047280963.1:p.Ser167Ter, XP_047280961.1:p.Ser220Ter, XP_047280962.1:p.Ser248Ter, XP_047280969.1:p.Ser167Ter, XP_047280965.1:p.Ser160Ter, XP_047280960.1:p.Ser248Ter, XP_047280968.1:p.Ser89Ter, XP_047280978.1:p.Ser7Ter, XP_047280966.1:p.Ser167Ter, XP_047280979.1:p.Ser7Ter, XP_047280964.1:p.Ser248Ter

                                16.

                                rs1370825802 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  10:46987469 (GRCh38)
                                  10:48751893 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:46987468:G:T
                                  Gene:
                                  PTPN20 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.00101/12 (ALFA)
                                  HGVS:
                                  NC_000010.11:g.46987469G>T, NW_003871068.1:g.1258584G>T, NC_000010.10:g.48751893C>A, NM_001042357.5:c.1048G>T, NM_001042357.4:c.1048G>T, NM_001042357.3:c.1048G>T, NM_001042358.5:c.1021G>T, NM_001042358.4:c.1021G>T, NM_001042358.3:c.1021G>T, NM_001042363.5:c.805G>T, NM_001042363.4:c.805G>T, NM_001042363.3:c.805G>T, XM_011539606.4:c.1048G>T, XM_011539606.3:c.1048G>T, XM_011539606.2:c.1048G>T, XM_011539606.1:c.1048G>T, NM_001042359.4:c.595G>T, NM_001042359.3:c.595G>T, NM_001042359.2:c.595G>T, NM_001042360.4:c.472G>T, NM_001042360.3:c.472G>T, NM_001042360.2:c.472G>T, XM_011539607.3:c.1048G>T, XM_011539607.2:c.1048G>T, XM_011539607.1:c.1048G>T, XM_011539605.3:c.1048G>T, XM_011539605.2:c.1048G>T, XM_011539605.1:c.1048G>T, XM_011539610.3:c.805G>T, XM_011539610.2:c.805G>T, XM_011539610.1:c.805G>T, XM_017016045.2:c.928G>T, XM_017016045.1:c.928G>T, NM_001320685.2:c.964G>T, NM_001320685.1:c.964G>T, NM_001352527.2:c.325G>T, NM_001352527.1:c.325G>T, NM_001352521.2:c.964G>T, NM_001352521.1:c.964G>T, NM_001320686.2:c.805G>T, NM_001320686.1:c.805G>T, NM_001352528.2:c.325G>T, NM_001352528.1:c.325G>T, NM_001320681.2:c.805G>T, NM_001320681.1:c.805G>T, NM_001320691.2:c.325G>T, NM_001320691.1:c.325G>T, NM_001352525.2:c.325G>T, NM_001352525.1:c.325G>T, NM_001352529.2:c.325G>T, NM_001352529.1:c.325G>T, NM_001352552.2:c.4G>T, NM_001352552.1:c.4G>T, NM_001352530.2:c.325G>T, NM_001352530.1:c.325G>T, NM_001352553.2:c.4G>T, NM_001352553.1:c.4G>T, NM_001320688.2:c.379G>T, NM_001320688.1:c.379G>T, NM_001352526.2:c.325G>T, NM_001352526.1:c.325G>T, NM_001352554.2:c.4G>T, NM_001352554.1:c.4G>T, XM_047425020.1:c.325G>T, XM_047425003.1:c.1048G>T, XM_047425007.1:c.805G>T, XM_047425005.1:c.964G>T, XM_047425009.1:c.784G>T, XM_047425004.1:c.1048G>T, XM_047425012.1:c.571G>T, XM_047425022.1:c.325G>T, XM_047425023.1:c.325G>T, NM_001042389.1:c.1048G>T, NM_001042395.1:c.805G>T, NM_001042390.1:c.1021G>T, NM_001042391.1:c.595G>T, NM_001042392.1:c.472G>T, NP_001035816.1:p.Val350Phe, NP_001035817.1:p.Val341Phe, NP_001035822.1:p.Val269Phe, XP_011537908.1:p.Val350Phe, NP_001035818.1:p.Val199Phe, NP_001035819.1:p.Val158Phe, XP_011537909.1:p.Val350Phe, XP_011537907.1:p.Val350Phe, XP_011537912.1:p.Val269Phe, XP_016871534.1:p.Val310Phe, NP_001307614.1:p.Val322Phe, NP_001339456.1:p.Val109Phe, NP_001339450.1:p.Val322Phe, NP_001307615.1:p.Val269Phe, NP_001339457.1:p.Val109Phe, NP_001307610.1:p.Val269Phe, NP_001307620.1:p.Val109Phe, NP_001339454.1:p.Val109Phe, NP_001339458.1:p.Val109Phe, NP_001339481.1:p.Val2Phe, NP_001339459.1:p.Val109Phe, NP_001339482.1:p.Val2Phe, NP_001307617.1:p.Val127Phe, NP_001339455.1:p.Val109Phe, NP_001339483.1:p.Val2Phe, XP_047280976.1:p.Val109Phe, XP_047280959.1:p.Val350Phe, XP_047280963.1:p.Val269Phe, XP_047280961.1:p.Val322Phe, XP_047280965.1:p.Val262Phe, XP_047280960.1:p.Val350Phe, XP_047280968.1:p.Val191Phe, XP_047280978.1:p.Val109Phe, XP_047280979.1:p.Val109Phe

                                  17.

                                  rs1343112797 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    10:46984494 (GRCh38)
                                    10:48754868 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:46984493:G:A,NC_000010.11:46984493:G:T
                                    Gene:
                                    PTPN20 (Varview)
                                    Functional Consequence:
                                    missense_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.00089/124 (GnomAD)
                                    A=0.000937/6 (1000Genomes)
                                    HGVS:
                                    NC_000010.11:g.46984494G>A, NC_000010.11:g.46984494G>T, NW_003871068.1:g.1255609G>A, NW_003871068.1:g.1255609G>T, NC_000010.10:g.48754868C>T, NC_000010.10:g.48754868C>A, NM_001042357.5:c.848G>A, NM_001042357.5:c.848G>T, NM_001042357.4:c.848G>A, NM_001042357.4:c.848G>T, NM_001042357.3:c.848G>A, NM_001042357.3:c.848G>T, NM_001042358.5:c.821G>A, NM_001042358.5:c.821G>T, NM_001042358.4:c.821G>A, NM_001042358.4:c.821G>T, NM_001042358.3:c.821G>A, NM_001042358.3:c.821G>T, NM_001042363.5:c.605G>A, NM_001042363.5:c.605G>T, NM_001042363.4:c.605G>A, NM_001042363.4:c.605G>T, NM_001042363.3:c.605G>A, NM_001042363.3:c.605G>T, XM_011539606.4:c.848G>A, XM_011539606.4:c.848G>T, XM_011539606.3:c.848G>A, XM_011539606.3:c.848G>T, XM_011539606.2:c.848G>A, XM_011539606.2:c.848G>T, XM_011539606.1:c.848G>A, XM_011539606.1:c.848G>T, NM_001042360.4:c.272G>A, NM_001042360.4:c.272G>T, NM_001042360.3:c.272G>A, NM_001042360.3:c.272G>T, NM_001042360.2:c.272G>A, NM_001042360.2:c.272G>T, XM_011539607.3:c.848G>A, XM_011539607.3:c.848G>T, XM_011539607.2:c.848G>A, XM_011539607.2:c.848G>T, XM_011539607.1:c.848G>A, XM_011539607.1:c.848G>T, XM_011539605.3:c.848G>A, XM_011539605.3:c.848G>T, XM_011539605.2:c.848G>A, XM_011539605.2:c.848G>T, XM_011539605.1:c.848G>A, XM_011539605.1:c.848G>T, XM_011539610.3:c.605G>A, XM_011539610.3:c.605G>T, XM_011539610.2:c.605G>A, XM_011539610.2:c.605G>T, XM_011539610.1:c.605G>A, XM_011539610.1:c.605G>T, XM_017016045.2:c.728G>A, XM_017016045.2:c.728G>T, XM_017016045.1:c.728G>A, XM_017016045.1:c.728G>T, NM_001320685.2:c.764G>A, NM_001320685.2:c.764G>T, NM_001320685.1:c.764G>A, NM_001320685.1:c.764G>T, NM_001352527.2:c.125G>A, NM_001352527.2:c.125G>T, NM_001352527.1:c.125G>A, NM_001352527.1:c.125G>T, NM_001352521.2:c.764G>A, NM_001352521.2:c.764G>T, NM_001352521.1:c.764G>A, NM_001352521.1:c.764G>T, NM_001320686.2:c.605G>A, NM_001320686.2:c.605G>T, NM_001320686.1:c.605G>A, NM_001320686.1:c.605G>T, NM_001352528.2:c.125G>A, NM_001352528.2:c.125G>T, NM_001352528.1:c.125G>A, NM_001352528.1:c.125G>T, NM_001320681.2:c.605G>A, NM_001320681.2:c.605G>T, NM_001320681.1:c.605G>A, NM_001320681.1:c.605G>T, NM_001320691.2:c.125G>A, NM_001320691.2:c.125G>T, NM_001320691.1:c.125G>A, NM_001320691.1:c.125G>T, NM_001352543.2:c.125G>A, NM_001352543.2:c.125G>T, NM_001352543.1:c.125G>A, NM_001352543.1:c.125G>T, NM_001352525.2:c.125G>A, NM_001352525.2:c.125G>T, NM_001352525.1:c.125G>A, NM_001352525.1:c.125G>T, NM_001352529.2:c.125G>A, NM_001352529.2:c.125G>T, NM_001352529.1:c.125G>A, NM_001352529.1:c.125G>T, NM_001352522.2:c.605G>A, NM_001352522.2:c.605G>T, NM_001352522.1:c.605G>A, NM_001352522.1:c.605G>T, NM_001352530.2:c.125G>A, NM_001352530.2:c.125G>T, NM_001352530.1:c.125G>A, NM_001352530.1:c.125G>T, NM_001352526.2:c.125G>A, NM_001352526.2:c.125G>T, NM_001352526.1:c.125G>A, NM_001352526.1:c.125G>T, NM_001352544.2:c.125G>A, NM_001352544.2:c.125G>T, NM_001352544.1:c.125G>A, NM_001352544.1:c.125G>T, XM_047425020.1:c.125G>A, XM_047425020.1:c.125G>T, XM_047425003.1:c.848G>A, XM_047425003.1:c.848G>T, XM_047425007.1:c.605G>A, XM_047425007.1:c.605G>T, XM_047425005.1:c.764G>A, XM_047425005.1:c.764G>T, XM_047425006.1:c.848G>A, XM_047425006.1:c.848G>T, XM_047425013.1:c.605G>A, XM_047425013.1:c.605G>T, XM_047425009.1:c.584G>A, XM_047425009.1:c.584G>T, XM_047425004.1:c.848G>A, XM_047425004.1:c.848G>T, XM_047425012.1:c.371G>A, XM_047425012.1:c.371G>T, XM_047425022.1:c.125G>A, XM_047425022.1:c.125G>T, XM_047425010.1:c.605G>A, XM_047425010.1:c.605G>T, XM_047425023.1:c.125G>A, XM_047425023.1:c.125G>T, XM_047425008.1:c.848G>A, XM_047425008.1:c.848G>T, NM_001042389.1:c.848G>A, NM_001042389.1:c.848G>T, NM_001042395.1:c.605G>A, NM_001042395.1:c.605G>T, NM_001042390.1:c.821G>A, NM_001042390.1:c.821G>T, NM_001042392.1:c.272G>A, NM_001042392.1:c.272G>T, NP_001035816.1:p.Arg283His, NP_001035816.1:p.Arg283Leu, NP_001035817.1:p.Arg274His, NP_001035817.1:p.Arg274Leu, NP_001035822.1:p.Arg202His, NP_001035822.1:p.Arg202Leu, XP_011537908.1:p.Arg283His, XP_011537908.1:p.Arg283Leu, NP_001035819.1:p.Arg91His, NP_001035819.1:p.Arg91Leu, XP_011537909.1:p.Arg283His, XP_011537909.1:p.Arg283Leu, XP_011537907.1:p.Arg283His, XP_011537907.1:p.Arg283Leu, XP_011537912.1:p.Arg202His, XP_011537912.1:p.Arg202Leu, XP_016871534.1:p.Arg243His, XP_016871534.1:p.Arg243Leu, NP_001307614.1:p.Arg255His, NP_001307614.1:p.Arg255Leu, NP_001339456.1:p.Arg42His, NP_001339456.1:p.Arg42Leu, NP_001339450.1:p.Arg255His, NP_001339450.1:p.Arg255Leu, NP_001307615.1:p.Arg202His, NP_001307615.1:p.Arg202Leu, NP_001339457.1:p.Arg42His, NP_001339457.1:p.Arg42Leu, NP_001307610.1:p.Arg202His, NP_001307610.1:p.Arg202Leu, NP_001307620.1:p.Arg42His, NP_001307620.1:p.Arg42Leu, NP_001339472.1:p.Arg42His, NP_001339472.1:p.Arg42Leu, NP_001339454.1:p.Arg42His, NP_001339454.1:p.Arg42Leu, NP_001339458.1:p.Arg42His, NP_001339458.1:p.Arg42Leu, NP_001339451.1:p.Arg202His, NP_001339451.1:p.Arg202Leu, NP_001339459.1:p.Arg42His, NP_001339459.1:p.Arg42Leu, NP_001339455.1:p.Arg42His, NP_001339455.1:p.Arg42Leu, NP_001339473.1:p.Arg42His, NP_001339473.1:p.Arg42Leu, XP_047280976.1:p.Arg42His, XP_047280976.1:p.Arg42Leu, XP_047280959.1:p.Arg283His, XP_047280959.1:p.Arg283Leu, XP_047280963.1:p.Arg202His, XP_047280963.1:p.Arg202Leu, XP_047280961.1:p.Arg255His, XP_047280961.1:p.Arg255Leu, XP_047280962.1:p.Arg283His, XP_047280962.1:p.Arg283Leu, XP_047280969.1:p.Arg202His, XP_047280969.1:p.Arg202Leu, XP_047280965.1:p.Arg195His, XP_047280965.1:p.Arg195Leu, XP_047280960.1:p.Arg283His, XP_047280960.1:p.Arg283Leu, XP_047280968.1:p.Arg124His, XP_047280968.1:p.Arg124Leu, XP_047280978.1:p.Arg42His, XP_047280978.1:p.Arg42Leu, XP_047280966.1:p.Arg202His, XP_047280966.1:p.Arg202Leu, XP_047280979.1:p.Arg42His, XP_047280979.1:p.Arg42Leu, XP_047280964.1:p.Arg283His, XP_047280964.1:p.Arg283Leu

                                    18.

                                    rs1328350604 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:46984427 (GRCh38)
                                      10:48754935 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:46984426:G:A
                                      Gene:
                                      PTPN20 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.46984427G>A, NW_003871068.1:g.1255542G>A, NC_000010.10:g.48754935C>T, NM_001042357.5:c.781G>A, NM_001042357.4:c.781G>A, NM_001042357.3:c.781G>A, NM_001042358.5:c.754G>A, NM_001042358.4:c.754G>A, NM_001042358.3:c.754G>A, NM_001042363.5:c.538G>A, NM_001042363.4:c.538G>A, NM_001042363.3:c.538G>A, XM_011539606.4:c.781G>A, XM_011539606.3:c.781G>A, XM_011539606.2:c.781G>A, XM_011539606.1:c.781G>A, NM_001042360.4:c.205G>A, NM_001042360.3:c.205G>A, NM_001042360.2:c.205G>A, XM_011539607.3:c.781G>A, XM_011539607.2:c.781G>A, XM_011539607.1:c.781G>A, XM_011539605.3:c.781G>A, XM_011539605.2:c.781G>A, XM_011539605.1:c.781G>A, XM_011539610.3:c.538G>A, XM_011539610.2:c.538G>A, XM_011539610.1:c.538G>A, XM_017016045.2:c.661G>A, XM_017016045.1:c.661G>A, NM_001320685.2:c.697G>A, NM_001320685.1:c.697G>A, NM_001352527.2:c.58G>A, NM_001352527.1:c.58G>A, NM_001352521.2:c.697G>A, NM_001352521.1:c.697G>A, NM_001320686.2:c.538G>A, NM_001320686.1:c.538G>A, NM_001352528.2:c.58G>A, NM_001352528.1:c.58G>A, NM_001320681.2:c.538G>A, NM_001320681.1:c.538G>A, NM_001320691.2:c.58G>A, NM_001320691.1:c.58G>A, NM_001352543.2:c.58G>A, NM_001352543.1:c.58G>A, NM_001352525.2:c.58G>A, NM_001352525.1:c.58G>A, NM_001352529.2:c.58G>A, NM_001352529.1:c.58G>A, NM_001352522.2:c.538G>A, NM_001352522.1:c.538G>A, NM_001352530.2:c.58G>A, NM_001352530.1:c.58G>A, NM_001352526.2:c.58G>A, NM_001352526.1:c.58G>A, NM_001352544.2:c.58G>A, NM_001352544.1:c.58G>A, XM_047425020.1:c.58G>A, XM_047425003.1:c.781G>A, XM_047425007.1:c.538G>A, XM_047425005.1:c.697G>A, XM_047425006.1:c.781G>A, XM_047425013.1:c.538G>A, XM_047425009.1:c.517G>A, XM_047425004.1:c.781G>A, XM_047425012.1:c.304G>A, XM_047425022.1:c.58G>A, XM_047425010.1:c.538G>A, XM_047425023.1:c.58G>A, XM_047425008.1:c.781G>A, NM_001042389.1:c.781G>A, NM_001042395.1:c.538G>A, NM_001042390.1:c.754G>A, NM_001042392.1:c.205G>A, NP_001035816.1:p.Gly261Arg, NP_001035817.1:p.Gly252Arg, NP_001035822.1:p.Gly180Arg, XP_011537908.1:p.Gly261Arg, NP_001035819.1:p.Gly69Arg, XP_011537909.1:p.Gly261Arg, XP_011537907.1:p.Gly261Arg, XP_011537912.1:p.Gly180Arg, XP_016871534.1:p.Gly221Arg, NP_001307614.1:p.Gly233Arg, NP_001339456.1:p.Gly20Arg, NP_001339450.1:p.Gly233Arg, NP_001307615.1:p.Gly180Arg, NP_001339457.1:p.Gly20Arg, NP_001307610.1:p.Gly180Arg, NP_001307620.1:p.Gly20Arg, NP_001339472.1:p.Gly20Arg, NP_001339454.1:p.Gly20Arg, NP_001339458.1:p.Gly20Arg, NP_001339451.1:p.Gly180Arg, NP_001339459.1:p.Gly20Arg, NP_001339455.1:p.Gly20Arg, NP_001339473.1:p.Gly20Arg, XP_047280976.1:p.Gly20Arg, XP_047280959.1:p.Gly261Arg, XP_047280963.1:p.Gly180Arg, XP_047280961.1:p.Gly233Arg, XP_047280962.1:p.Gly261Arg, XP_047280969.1:p.Gly180Arg, XP_047280965.1:p.Gly173Arg, XP_047280960.1:p.Gly261Arg, XP_047280968.1:p.Gly102Arg, XP_047280978.1:p.Gly20Arg, XP_047280966.1:p.Gly180Arg, XP_047280979.1:p.Gly20Arg, XP_047280964.1:p.Gly261Arg

                                      19.

                                      rs1327896362 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        10:46984518 (GRCh38)
                                        10:48754844 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:46984516:ATA:A
                                        Gene:
                                        PTPN20 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.46984518_46984519del, NW_003871068.1:g.1255633_1255634del, NC_000010.10:g.48754844_48754845del, NM_001042357.5:c.872_873del, NM_001042357.4:c.872_873del, NM_001042357.3:c.872_873del, NM_001042358.5:c.845_846del, NM_001042358.4:c.845_846del, NM_001042358.3:c.845_846del, NM_001042363.5:c.629_630del, NM_001042363.4:c.629_630del, NM_001042363.3:c.629_630del, XM_011539606.4:c.872_873del, XM_011539606.3:c.872_873del, XM_011539606.2:c.872_873del, XM_011539606.1:c.872_873del, NM_001042360.4:c.296_297del, NM_001042360.3:c.296_297del, NM_001042360.2:c.296_297del, XM_011539607.3:c.872_873del, XM_011539607.2:c.872_873del, XM_011539607.1:c.872_873del, XM_011539605.3:c.872_873del, XM_011539605.2:c.872_873del, XM_011539605.1:c.872_873del, XM_011539610.3:c.629_630del, XM_011539610.2:c.629_630del, XM_011539610.1:c.629_630del, XM_017016045.2:c.752_753del, XM_017016045.1:c.752_753del, NM_001320685.2:c.788_789del, NM_001320685.1:c.788_789del, NM_001352527.2:c.149_150del, NM_001352527.1:c.149_150del, NM_001352521.2:c.788_789del, NM_001352521.1:c.788_789del, NM_001320686.2:c.629_630del, NM_001320686.1:c.629_630del, NM_001352528.2:c.149_150del, NM_001352528.1:c.149_150del, NM_001320681.2:c.629_630del, NM_001320681.1:c.629_630del, NM_001320691.2:c.149_150del, NM_001320691.1:c.149_150del, NM_001352543.2:c.149_150del, NM_001352543.1:c.149_150del, NM_001352525.2:c.149_150del, NM_001352525.1:c.149_150del, NM_001352529.2:c.149_150del, NM_001352529.1:c.149_150del, NM_001352522.2:c.629_630del, NM_001352522.1:c.629_630del, NM_001352530.2:c.149_150del, NM_001352530.1:c.149_150del, NM_001352526.2:c.149_150del, NM_001352526.1:c.149_150del, NM_001352544.2:c.149_150del, NM_001352544.1:c.149_150del, XM_047425020.1:c.149_150del, XM_047425003.1:c.872_873del, XM_047425007.1:c.629_630del, XM_047425005.1:c.788_789del, XM_047425006.1:c.872_873del, XM_047425013.1:c.629_630del, XM_047425009.1:c.608_609del, XM_047425004.1:c.872_873del, XM_047425012.1:c.395_396del, XM_047425022.1:c.149_150del, XM_047425010.1:c.629_630del, XM_047425023.1:c.149_150del, XM_047425008.1:c.872_873del, NM_001042389.1:c.872_873del, NM_001042395.1:c.629_630del, NM_001042390.1:c.845_846del, NM_001042392.1:c.296_297del, NP_001035816.1:p.Ile291fs, NP_001035817.1:p.Ile282fs, NP_001035822.1:p.Ile210fs, XP_011537908.1:p.Ile291fs, NP_001035819.1:p.Ile99fs, XP_011537909.1:p.Ile291fs, XP_011537907.1:p.Ile291fs, XP_011537912.1:p.Ile210fs, XP_016871534.1:p.Ile251fs, NP_001307614.1:p.Ile263fs, NP_001339456.1:p.Ile50fs, NP_001339450.1:p.Ile263fs, NP_001307615.1:p.Ile210fs, NP_001339457.1:p.Ile50fs, NP_001307610.1:p.Ile210fs, NP_001307620.1:p.Ile50fs, NP_001339472.1:p.Ile50fs, NP_001339454.1:p.Ile50fs, NP_001339458.1:p.Ile50fs, NP_001339451.1:p.Ile210fs, NP_001339459.1:p.Ile50fs, NP_001339455.1:p.Ile50fs, NP_001339473.1:p.Ile50fs, XP_047280976.1:p.Ile50fs, XP_047280959.1:p.Ile291fs, XP_047280963.1:p.Ile210fs, XP_047280961.1:p.Ile263fs, XP_047280962.1:p.Ile291fs, XP_047280969.1:p.Ile210fs, XP_047280965.1:p.Ile203fs, XP_047280960.1:p.Ile291fs, XP_047280968.1:p.Ile132fs, XP_047280978.1:p.Ile50fs, XP_047280966.1:p.Ile210fs, XP_047280979.1:p.Ile50fs, XP_047280964.1:p.Ile291fs

                                        20.

                                        rs1321930534 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:47000721 (GRCh38)
                                          10:48738641 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:47000720:A:G
                                          Gene:
                                          PTPN20 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000023/6 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.47000721A>G, NW_003871068.1:g.1271836A>G, NC_000010.10:g.48738641T>C, NM_015605.9:c.*11A>G, NM_015605.8:c.*11A>G, NM_015605.7:c.*11A>G, NM_001042357.5:c.1243A>G, NM_001042357.4:c.1243A>G, NM_001042357.3:c.1243A>G, NM_001042358.5:c.1216A>G, NM_001042358.4:c.1216A>G, NM_001042358.3:c.1216A>G, NM_001042363.5:c.1000A>G, NM_001042363.4:c.1000A>G, NM_001042363.3:c.1000A>G, NM_001042361.5:c.*11A>G, NM_001042361.4:c.*11A>G, NM_001042361.3:c.*11A>G, NM_001042364.5:c.*11A>G, NM_001042364.4:c.*11A>G, NM_001042364.3:c.*11A>G, XM_011539606.4:c.1243A>G, XM_011539606.3:c.1243A>G, XM_011539606.2:c.1243A>G, XM_011539606.1:c.1243A>G, NM_001042359.4:c.790A>G, NM_001042359.3:c.790A>G, NM_001042359.2:c.790A>G, NM_001042360.4:c.667A>G, NM_001042360.3:c.667A>G, NM_001042360.2:c.667A>G, NM_001042362.4:c.*11A>G, NM_001042362.3:c.*11A>G, NM_001042362.2:c.*11A>G, NM_001042365.4:c.*11A>G, NM_001042365.3:c.*11A>G, NM_001042365.2:c.*11A>G, XM_011539607.3:c.1243A>G, XM_011539607.2:c.1243A>G, XM_011539607.1:c.1243A>G, XM_011539605.3:c.1243A>G, XM_011539605.2:c.1243A>G, XM_011539605.1:c.1243A>G, XM_011539610.3:c.1000A>G, XM_011539610.2:c.1000A>G, XM_011539610.1:c.1000A>G, XM_017016045.2:c.1123A>G, XM_017016045.1:c.1123A>G, NM_001320685.2:c.1159A>G, NM_001320685.1:c.1159A>G, NM_001352527.2:c.520A>G, NM_001352527.1:c.520A>G, NM_001352521.2:c.1159A>G, NM_001352521.1:c.1159A>G, NM_001320686.2:c.1000A>G, NM_001320686.1:c.1000A>G, NM_001352528.2:c.520A>G, NM_001352528.1:c.520A>G, NM_001320681.2:c.1000A>G, NM_001320681.1:c.1000A>G, NM_001320691.2:c.520A>G, NM_001320691.1:c.520A>G, NM_001352543.2:c.304A>G, NM_001352543.1:c.304A>G, NM_001352525.2:c.520A>G, NM_001352525.1:c.520A>G, NM_001352529.2:c.520A>G, NM_001352529.1:c.520A>G, NM_001352522.2:c.784A>G, NM_001352522.1:c.784A>G, NM_001352552.2:c.199A>G, NM_001352552.1:c.199A>G, NM_001320683.2:c.*11A>G, NM_001320683.1:c.*11A>G, NM_001352530.2:c.520A>G, NM_001352530.1:c.520A>G, NM_001352553.2:c.199A>G, NM_001352553.1:c.199A>G, NM_001320684.2:c.601A>G, NM_001320684.1:c.601A>G, NM_001320688.2:c.574A>G, NM_001320688.1:c.574A>G, NM_001352523.2:c.*11A>G, NM_001352523.1:c.*11A>G, NM_001352535.2:c.*128A>G, NM_001352535.1:c.*128A>G, NM_001352526.2:c.520A>G, NM_001352526.1:c.520A>G, NM_001352534.2:c.517A>G, NM_001352534.1:c.517A>G, NM_001352524.2:c.574A>G, NM_001352524.1:c.574A>G, NM_001352548.2:c.259A>G, NM_001352548.1:c.259A>G, NM_001352533.2:c.*11A>G, NM_001352533.1:c.*11A>G, NM_001352542.2:c.*11A>G, NM_001352542.1:c.*11A>G, NM_001352540.2:c.*106A>G, NM_001352540.1:c.*106A>G, NM_001352531.2:c.*11A>G, NM_001352531.1:c.*11A>G, NM_001352554.2:c.199A>G, NM_001352554.1:c.199A>G, NM_001352537.2:c.358A>G, NM_001352537.1:c.358A>G, NM_001352539.2:c.358A>G, NM_001352539.1:c.358A>G, NM_001320689.2:c.259A>G, NM_001320689.1:c.259A>G, NM_001352541.2:c.*11A>G, NM_001352541.1:c.*11A>G, NM_001352538.2:c.358A>G, NM_001352538.1:c.358A>G, NM_001352550.2:c.*106A>G, NM_001352550.1:c.*106A>G, NM_001352532.2:c.*11A>G, NM_001352532.1:c.*11A>G, NM_001352544.2:c.304A>G, NM_001352544.1:c.304A>G, NM_001352549.2:c.*106A>G, NM_001352549.1:c.*106A>G, NM_001352545.2:c.295A>G, NM_001352545.1:c.295A>G, NM_001352547.2:c.259A>G, NM_001352547.1:c.259A>G, NM_001352536.2:c.358A>G, NM_001352536.1:c.358A>G, NM_001320690.2:c.259A>G, NM_001320690.1:c.259A>G, NM_001352555.2:c.*128A>G, NM_001352555.1:c.*128A>G, NM_001320682.2:c.259A>G, NM_001320682.1:c.259A>G, NM_001352546.2:c.268A>G, NM_001352546.1:c.268A>G, NM_001352551.2:c.229A>G, NM_001352551.1:c.229A>G, NR_148022.2:n.285A>G, NR_148022.1:n.317A>G, NR_148024.2:n.230A>G, NR_148024.1:n.230A>G, NR_148023.2:n.183A>G, NR_148023.1:n.215A>G, XM_047425020.1:c.520A>G, XM_047425003.1:c.*106A>G, XM_047425007.1:c.1000A>G, XM_047425025.1:c.*11A>G, XM_047425005.1:c.1159A>G, XM_047425006.1:c.1027A>G, XM_047425013.1:c.*106A>G, XM_047425009.1:c.979A>G, XM_047425012.1:c.766A>G, XM_047425022.1:c.520A>G, XM_047425017.1:c.*106A>G, XM_047425010.1:c.784A>G, XM_047425015.1:c.601A>G, XM_047425030.1:c.*106A>G, XM_047425026.1:c.*128A>G, XM_047425018.1:c.*106A>G, XM_047425023.1:c.520A>G, XM_047425024.1:c.517A>G, XM_047425027.1:c.*106A>G, XM_047425029.1:c.259A>G, XM_047425033.1:c.*128A>G, XM_047425028.1:c.*106A>G, XM_047425034.1:c.*128A>G, XM_047425031.1:c.*11A>G, NM_001042389.1:c.1243A>G, NM_001042395.1:c.1000A>G, NM_001042390.1:c.1216A>G, NM_001042387.1:c.*11A>G, NM_001042391.1:c.790A>G, NM_001042392.1:c.667A>G, NM_001042393.1:c.*11A>G, NM_001042396.1:c.*11A>G, NM_001042394.1:c.*11A>G, NM_001042397.1:c.*11A>G, NP_001035816.1:p.Lys415Glu, NP_001035817.1:p.Lys406Glu, NP_001035822.1:p.Lys334Glu, XP_011537908.1:p.Lys415Glu, NP_001035818.1:p.Lys264Glu, NP_001035819.1:p.Lys223Glu, XP_011537909.1:p.Lys415Glu, XP_011537907.1:p.Lys415Glu, XP_011537912.1:p.Lys334Glu, XP_016871534.1:p.Lys375Glu, NP_001307614.1:p.Lys387Glu, NP_001339456.1:p.Lys174Glu, NP_001339450.1:p.Lys387Glu, NP_001307615.1:p.Lys334Glu, NP_001339457.1:p.Lys174Glu, NP_001307610.1:p.Lys334Glu, NP_001307620.1:p.Lys174Glu, NP_001339472.1:p.Lys102Glu, NP_001339454.1:p.Lys174Glu, NP_001339458.1:p.Lys174Glu, NP_001339451.1:p.Lys262Glu, NP_001339481.1:p.Lys67Glu, NP_001339459.1:p.Lys174Glu, NP_001339482.1:p.Lys67Glu, NP_001307613.1:p.Lys201Glu, NP_001307617.1:p.Lys192Glu, NP_001339455.1:p.Lys174Glu, NP_001339463.1:p.Lys173Glu, NP_001339453.1:p.Lys192Glu, NP_001339477.1:p.Lys87Glu, NP_001339483.1:p.Lys67Glu, NP_001339466.1:p.Lys120Glu, NP_001339468.1:p.Lys120Glu, NP_001307618.1:p.Lys87Glu, NP_001339467.1:p.Lys120Glu, NP_001339473.1:p.Lys102Glu, NP_001339474.1:p.Lys99Glu, NP_001339476.1:p.Lys87Glu, NP_001339465.1:p.Lys120Glu, NP_001307619.1:p.Lys87Glu, NP_001307611.1:p.Lys87Glu, NP_001339475.1:p.Lys90Glu, NP_001339480.1:p.Lys77Glu, XP_047280976.1:p.Lys174Glu, XP_047280963.1:p.Lys334Glu, XP_047280961.1:p.Lys387Glu, XP_047280962.1:p.Lys343Glu, XP_047280965.1:p.Lys327Glu, XP_047280968.1:p.Lys256Glu, XP_047280978.1:p.Lys174Glu, XP_047280966.1:p.Lys262Glu, XP_047280971.1:p.Lys201Glu, XP_047280979.1:p.Lys174Glu, XP_047280980.1:p.Lys173Glu, XP_047280985.1:p.Lys87Glu

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