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Items: 1 to 20 of 24

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1317409014 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            10:46999971 (GRCh38)
            10:48739391 (GRCh37)
            Canonical SPDI:
            NC_000010.11:46999970:G:A,NC_000010.11:46999970:G:C
            Gene:
            PTPN20 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            C=0.000005/1 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000010.11:g.46999971G>A, NC_000010.11:g.46999971G>C, NW_003871068.1:g.1271086G>A, NW_003871068.1:g.1271086G>C, NC_000010.10:g.48739391C>T, NC_000010.10:g.48739391C>G, NM_015605.9:c.643G>A, NM_015605.9:c.643G>C, NM_015605.8:c.643G>A, NM_015605.8:c.643G>C, NM_015605.7:c.643G>A, NM_015605.7:c.643G>C, NM_001042357.5:c.1194G>A, NM_001042357.5:c.1194G>C, NM_001042357.4:c.1194G>A, NM_001042357.4:c.1194G>C, NM_001042357.3:c.1194G>A, NM_001042357.3:c.1194G>C, NM_001042358.5:c.1167G>A, NM_001042358.5:c.1167G>C, NM_001042358.4:c.1167G>A, NM_001042358.4:c.1167G>C, NM_001042358.3:c.1167G>A, NM_001042358.3:c.1167G>C, NM_001042363.5:c.951G>A, NM_001042363.5:c.951G>C, NM_001042363.4:c.951G>A, NM_001042363.4:c.951G>C, NM_001042363.3:c.951G>A, NM_001042363.3:c.951G>C, NM_001042361.5:c.616G>A, NM_001042361.5:c.616G>C, NM_001042361.4:c.616G>A, NM_001042361.4:c.616G>C, NM_001042361.3:c.616G>A, NM_001042361.3:c.616G>C, NM_001042364.5:c.400G>A, NM_001042364.5:c.400G>C, NM_001042364.4:c.400G>A, NM_001042364.4:c.400G>C, NM_001042364.3:c.400G>A, NM_001042364.3:c.400G>C, XM_011539606.4:c.1194G>A, XM_011539606.4:c.1194G>C, XM_011539606.3:c.1194G>A, XM_011539606.3:c.1194G>C, XM_011539606.2:c.1194G>A, XM_011539606.2:c.1194G>C, XM_011539606.1:c.1194G>A, XM_011539606.1:c.1194G>C, NM_001042359.4:c.741G>A, NM_001042359.4:c.741G>C, NM_001042359.3:c.741G>A, NM_001042359.3:c.741G>C, NM_001042359.2:c.741G>A, NM_001042359.2:c.741G>C, NM_001042360.4:c.618G>A, NM_001042360.4:c.618G>C, NM_001042360.3:c.618G>A, NM_001042360.3:c.618G>C, NM_001042360.2:c.618G>A, NM_001042360.2:c.618G>C, NM_001042362.4:c.373G>A, NM_001042362.4:c.373G>C, NM_001042362.3:c.373G>A, NM_001042362.3:c.373G>C, NM_001042362.2:c.373G>A, NM_001042362.2:c.373G>C, NM_001042365.4:c.157G>A, NM_001042365.4:c.157G>C, NM_001042365.3:c.157G>A, NM_001042365.3:c.157G>C, NM_001042365.2:c.157G>A, NM_001042365.2:c.157G>C, XM_011539607.3:c.1194G>A, XM_011539607.3:c.1194G>C, XM_011539607.2:c.1194G>A, XM_011539607.2:c.1194G>C, XM_011539607.1:c.1194G>A, XM_011539607.1:c.1194G>C, XM_011539605.3:c.1194G>A, XM_011539605.3:c.1194G>C, XM_011539605.2:c.1194G>A, XM_011539605.2:c.1194G>C, XM_011539605.1:c.1194G>A, XM_011539605.1:c.1194G>C, XM_011539610.3:c.951G>A, XM_011539610.3:c.951G>C, XM_011539610.2:c.951G>A, XM_011539610.2:c.951G>C, XM_011539610.1:c.951G>A, XM_011539610.1:c.951G>C, XM_017016045.2:c.1074G>A, XM_017016045.2:c.1074G>C, XM_017016045.1:c.1074G>A, XM_017016045.1:c.1074G>C, NM_001320685.2:c.1110G>A, NM_001320685.2:c.1110G>C, NM_001320685.1:c.1110G>A, NM_001320685.1:c.1110G>C, NM_001352527.2:c.471G>A, NM_001352527.2:c.471G>C, NM_001352527.1:c.471G>A, NM_001352527.1:c.471G>C, NM_001352521.2:c.1110G>A, NM_001352521.2:c.1110G>C, NM_001352521.1:c.1110G>A, NM_001352521.1:c.1110G>C, NM_001320686.2:c.951G>A, NM_001320686.2:c.951G>C, NM_001320686.1:c.951G>A, NM_001320686.1:c.951G>C, NM_001352528.2:c.471G>A, NM_001352528.2:c.471G>C, NM_001352528.1:c.471G>A, NM_001352528.1:c.471G>C, NM_001320681.2:c.951G>A, NM_001320681.2:c.951G>C, NM_001320681.1:c.951G>A, NM_001320681.1:c.951G>C, NM_001320691.2:c.471G>A, NM_001320691.2:c.471G>C, NM_001320691.1:c.471G>A, NM_001320691.1:c.471G>C, NM_001352543.2:c.255G>A, NM_001352543.2:c.255G>C, NM_001352543.1:c.255G>A, NM_001352543.1:c.255G>C, NM_001352525.2:c.471G>A, NM_001352525.2:c.471G>C, NM_001352525.1:c.471G>A, NM_001352525.1:c.471G>C, NM_001352529.2:c.471G>A, NM_001352529.2:c.471G>C, NM_001352529.1:c.471G>A, NM_001352529.1:c.471G>C, NM_001352522.2:c.735G>A, NM_001352522.2:c.735G>C, NM_001352522.1:c.735G>A, NM_001352522.1:c.735G>C, NM_001352552.2:c.150G>A, NM_001352552.2:c.150G>C, NM_001352552.1:c.150G>A, NM_001352552.1:c.150G>C, NM_001320683.2:c.643G>A, NM_001320683.2:c.643G>C, NM_001320683.1:c.643G>A, NM_001320683.1:c.643G>C, NM_001352530.2:c.471G>A, NM_001352530.2:c.471G>C, NM_001352530.1:c.471G>A, NM_001352530.1:c.471G>C, NM_001352553.2:c.150G>A, NM_001352553.2:c.150G>C, NM_001352553.1:c.150G>A, NM_001352553.1:c.150G>C, NM_001320684.2:c.552G>A, NM_001320684.2:c.552G>C, NM_001320684.1:c.552G>A, NM_001320684.1:c.552G>C, NM_001320688.2:c.525G>A, NM_001320688.2:c.525G>C, NM_001320688.1:c.525G>A, NM_001320688.1:c.525G>C, NM_001352523.2:c.559G>A, NM_001352523.2:c.559G>C, NM_001352523.1:c.559G>A, NM_001352523.1:c.559G>C, NM_001352535.2:c.400G>A, NM_001352535.2:c.400G>C, NM_001352535.1:c.400G>A, NM_001352535.1:c.400G>C, NM_001352526.2:c.471G>A, NM_001352526.2:c.471G>C, NM_001352526.1:c.471G>A, NM_001352526.1:c.471G>C, NM_001352534.2:c.468G>A, NM_001352534.2:c.468G>C, NM_001352534.1:c.468G>A, NM_001352534.1:c.468G>C, NM_001352524.2:c.525G>A, NM_001352524.2:c.525G>C, NM_001352524.1:c.525G>A, NM_001352524.1:c.525G>C, NM_001352548.2:c.210G>A, NM_001352548.2:c.210G>C, NM_001352548.1:c.210G>A, NM_001352548.1:c.210G>C, NM_001352533.2:c.400G>A, NM_001352533.2:c.400G>C, NM_001352533.1:c.400G>A, NM_001352533.1:c.400G>C, NM_001352542.2:c.316G>A, NM_001352542.2:c.316G>C, NM_001352542.1:c.316G>A, NM_001352542.1:c.316G>C, NM_001352540.2:c.309G>A, NM_001352540.2:c.309G>C, NM_001352540.1:c.309G>A, NM_001352540.1:c.309G>C, NM_001352531.2:c.400G>A, NM_001352531.2:c.400G>C, NM_001352531.1:c.400G>A, NM_001352531.1:c.400G>C, NM_001352554.2:c.150G>A, NM_001352554.2:c.150G>C, NM_001352554.1:c.150G>A, NM_001352554.1:c.150G>C, NM_001352537.2:c.309G>A, NM_001352537.2:c.309G>C, NM_001352537.1:c.309G>A, NM_001352537.1:c.309G>C, NM_001352539.2:c.309G>A, NM_001352539.2:c.309G>C, NM_001352539.1:c.309G>A, NM_001352539.1:c.309G>C, NM_001320689.2:c.210G>A, NM_001320689.2:c.210G>C, NM_001320689.1:c.210G>A, NM_001320689.1:c.210G>C, NM_001352541.2:c.316G>A, NM_001352541.2:c.316G>C, NM_001352541.1:c.316G>A, NM_001352541.1:c.316G>C, NM_001352538.2:c.309G>A, NM_001352538.2:c.309G>C, NM_001352538.1:c.309G>A, NM_001352538.1:c.309G>C, NM_001352550.2:c.210G>A, NM_001352550.2:c.210G>C, NM_001352550.1:c.210G>A, NM_001352550.1:c.210G>C, NM_001352532.2:c.400G>A, NM_001352532.2:c.400G>C, NM_001352532.1:c.400G>A, NM_001352532.1:c.400G>C, NM_001352544.2:c.255G>A, NM_001352544.2:c.255G>C, NM_001352544.1:c.255G>A, NM_001352544.1:c.255G>C, NM_001352549.2:c.210G>A, NM_001352549.2:c.210G>C, NM_001352549.1:c.210G>A, NM_001352549.1:c.210G>C, NM_001352545.2:c.246G>A, NM_001352545.2:c.246G>C, NM_001352545.1:c.246G>A, NM_001352545.1:c.246G>C, NM_001352547.2:c.210G>A, NM_001352547.2:c.210G>C, NM_001352547.1:c.210G>A, NM_001352547.1:c.210G>C, NM_001352536.2:c.309G>A, NM_001352536.2:c.309G>C, NM_001352536.1:c.309G>A, NM_001352536.1:c.309G>C, NM_001320690.2:c.210G>A, NM_001320690.2:c.210G>C, NM_001320690.1:c.210G>A, NM_001320690.1:c.210G>C, NM_001352555.2:c.157G>A, NM_001352555.2:c.157G>C, NM_001352555.1:c.157G>A, NM_001352555.1:c.157G>C, NM_001320682.2:c.210G>A, NM_001320682.2:c.210G>C, NM_001320682.1:c.210G>A, NM_001320682.1:c.210G>C, NM_001352546.2:c.219G>A, NM_001352546.2:c.219G>C, NM_001352546.1:c.219G>A, NM_001352546.1:c.219G>C, NM_001352551.2:c.180G>A, NM_001352551.2:c.180G>C, NM_001352551.1:c.180G>A, NM_001352551.1:c.180G>C, NR_148022.2:n.134G>A, NR_148022.2:n.134G>C, NR_148022.1:n.166G>A, NR_148022.1:n.166G>C, NR_148024.2:n.181G>A, NR_148024.2:n.181G>C, NR_148024.1:n.181G>A, NR_148024.1:n.181G>C, NR_148023.2:n.134G>A, NR_148023.2:n.134G>C, NR_148023.1:n.166G>A, NR_148023.1:n.166G>C, XM_047425020.1:c.471G>A, XM_047425020.1:c.471G>C, XM_047425003.1:c.1194G>A, XM_047425003.1:c.1194G>C, XM_047425007.1:c.951G>A, XM_047425007.1:c.951G>C, XM_047425025.1:c.400G>A, XM_047425025.1:c.400G>C, XM_047425005.1:c.1110G>A, XM_047425005.1:c.1110G>C, XM_047425006.1:c.978G>A, XM_047425006.1:c.978G>C, XM_047425013.1:c.735G>A, XM_047425013.1:c.735G>C, XM_047425009.1:c.930G>A, XM_047425009.1:c.930G>C, XM_047425004.1:c.1194G>A, XM_047425004.1:c.1194G>C, XM_047425012.1:c.717G>A, XM_047425012.1:c.717G>C, XM_047425022.1:c.471G>A, XM_047425022.1:c.471G>C, XM_047425017.1:c.552G>A, XM_047425017.1:c.552G>C, XM_047425010.1:c.735G>A, XM_047425010.1:c.735G>C, XM_047425015.1:c.552G>A, XM_047425015.1:c.552G>C, XM_047425030.1:c.210G>A, XM_047425030.1:c.210G>C, XM_047425026.1:c.400G>A, XM_047425026.1:c.400G>C, XM_047425018.1:c.525G>A, XM_047425018.1:c.525G>C, XM_047425023.1:c.471G>A, XM_047425023.1:c.471G>C, XM_047425008.1:c.978G>A, XM_047425008.1:c.978G>C, XM_047425024.1:c.468G>A, XM_047425024.1:c.468G>C, XM_047425027.1:c.309G>A, XM_047425027.1:c.309G>C, XM_047425029.1:c.210G>A, XM_047425029.1:c.210G>C, XM_047425033.1:c.157G>A, XM_047425033.1:c.157G>C, XM_047425028.1:c.309G>A, XM_047425028.1:c.309G>C, XM_047425034.1:c.157G>A, XM_047425034.1:c.157G>C, XM_047425031.1:c.157G>A, XM_047425031.1:c.157G>C, NM_001042389.1:c.1194G>A, NM_001042389.1:c.1194G>C, NM_001042395.1:c.951G>A, NM_001042395.1:c.951G>C, NM_001042390.1:c.1167G>A, NM_001042390.1:c.1167G>C, NM_001042387.1:c.643G>A, NM_001042387.1:c.643G>C, NM_001042391.1:c.741G>A, NM_001042391.1:c.741G>C, NM_001042392.1:c.618G>A, NM_001042392.1:c.618G>C, NM_001042393.1:c.616G>A, NM_001042393.1:c.616G>C, NM_001042396.1:c.400G>A, NM_001042396.1:c.400G>C, NM_001042394.1:c.373G>A, NM_001042394.1:c.373G>C, NM_001042397.1:c.157G>A, NM_001042397.1:c.157G>C, NP_056420.3:p.Glu215Lys, NP_056420.3:p.Glu215Gln, NP_001035820.1:p.Glu206Lys, NP_001035820.1:p.Glu206Gln, NP_001035823.1:p.Glu134Lys, NP_001035823.1:p.Glu134Gln, NP_001035821.1:p.Glu125Lys, NP_001035821.1:p.Glu125Gln, NP_001035824.1:p.Glu53Lys, NP_001035824.1:p.Glu53Gln, NP_001307612.1:p.Glu215Lys, NP_001307612.1:p.Glu215Gln, NP_001339452.1:p.Glu187Lys, NP_001339452.1:p.Glu187Gln, NP_001339464.1:p.Glu134Lys, NP_001339464.1:p.Glu134Gln, NP_001339462.1:p.Glu134Lys, NP_001339462.1:p.Glu134Gln, NP_001339471.1:p.Glu106Lys, NP_001339471.1:p.Glu106Gln, NP_001339460.1:p.Glu134Lys, NP_001339460.1:p.Glu134Gln, NP_001339470.1:p.Glu106Lys, NP_001339470.1:p.Glu106Gln, NP_001339461.1:p.Glu134Lys, NP_001339461.1:p.Glu134Gln, NP_001339484.1:p.Glu53Lys, NP_001339484.1:p.Glu53Gln, XP_047280981.1:p.Glu134Lys, XP_047280981.1:p.Glu134Gln, XP_047280982.1:p.Glu134Lys, XP_047280982.1:p.Glu134Gln, XP_047280989.1:p.Glu53Lys, XP_047280989.1:p.Glu53Gln, XP_047280990.1:p.Glu53Lys, XP_047280990.1:p.Glu53Gln, XP_047280987.1:p.Glu53Lys, XP_047280987.1:p.Glu53Gln

            6.

            rs1291591648 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:47000736 (GRCh38)
              10:48738626 (GRCh37)
              Canonical SPDI:
              NC_000010.11:47000735:G:A
              Gene:
              PTPN20 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.47000736G>A, NW_003871068.1:g.1271851G>A, NC_000010.10:g.48738626C>T, NM_015605.9:c.*26G>A, NM_015605.8:c.*26G>A, NM_015605.7:c.*26G>A, NM_001042357.5:c.1258G>A, NM_001042357.4:c.1258G>A, NM_001042357.3:c.1258G>A, NM_001042358.5:c.1231G>A, NM_001042358.4:c.1231G>A, NM_001042358.3:c.1231G>A, NM_001042363.5:c.1015G>A, NM_001042363.4:c.1015G>A, NM_001042363.3:c.1015G>A, NM_001042361.5:c.*26G>A, NM_001042361.4:c.*26G>A, NM_001042361.3:c.*26G>A, NM_001042364.5:c.*26G>A, NM_001042364.4:c.*26G>A, NM_001042364.3:c.*26G>A, XM_011539606.4:c.1258G>A, XM_011539606.3:c.1258G>A, XM_011539606.2:c.1258G>A, XM_011539606.1:c.1258G>A, NM_001042359.4:c.805G>A, NM_001042359.3:c.805G>A, NM_001042359.2:c.805G>A, NM_001042360.4:c.682G>A, NM_001042360.3:c.682G>A, NM_001042360.2:c.682G>A, NM_001042362.4:c.*26G>A, NM_001042362.3:c.*26G>A, NM_001042362.2:c.*26G>A, NM_001042365.4:c.*26G>A, NM_001042365.3:c.*26G>A, NM_001042365.2:c.*26G>A, XM_011539607.3:c.1258G>A, XM_011539607.2:c.1258G>A, XM_011539607.1:c.1258G>A, XM_011539605.3:c.1258G>A, XM_011539605.2:c.1258G>A, XM_011539605.1:c.1258G>A, XM_011539610.3:c.1015G>A, XM_011539610.2:c.1015G>A, XM_011539610.1:c.1015G>A, XM_017016045.2:c.1138G>A, XM_017016045.1:c.1138G>A, NM_001320685.2:c.1174G>A, NM_001320685.1:c.1174G>A, NM_001352527.2:c.535G>A, NM_001352527.1:c.535G>A, NM_001352521.2:c.1174G>A, NM_001352521.1:c.1174G>A, NM_001320686.2:c.1015G>A, NM_001320686.1:c.1015G>A, NM_001352528.2:c.535G>A, NM_001352528.1:c.535G>A, NM_001320681.2:c.1015G>A, NM_001320681.1:c.1015G>A, NM_001320691.2:c.535G>A, NM_001320691.1:c.535G>A, NM_001352543.2:c.319G>A, NM_001352543.1:c.319G>A, NM_001352525.2:c.535G>A, NM_001352525.1:c.535G>A, NM_001352529.2:c.535G>A, NM_001352529.1:c.535G>A, NM_001352522.2:c.799G>A, NM_001352522.1:c.799G>A, NM_001352552.2:c.214G>A, NM_001352552.1:c.214G>A, NM_001320683.2:c.*26G>A, NM_001320683.1:c.*26G>A, NM_001352530.2:c.535G>A, NM_001352530.1:c.535G>A, NM_001352553.2:c.214G>A, NM_001352553.1:c.214G>A, NM_001320684.2:c.616G>A, NM_001320684.1:c.616G>A, NM_001320688.2:c.589G>A, NM_001320688.1:c.589G>A, NM_001352523.2:c.*26G>A, NM_001352523.1:c.*26G>A, NM_001352535.2:c.*143G>A, NM_001352535.1:c.*143G>A, NM_001352526.2:c.535G>A, NM_001352526.1:c.535G>A, NM_001352534.2:c.532G>A, NM_001352534.1:c.532G>A, NM_001352524.2:c.589G>A, NM_001352524.1:c.589G>A, NM_001352548.2:c.274G>A, NM_001352548.1:c.274G>A, NM_001352533.2:c.*26G>A, NM_001352533.1:c.*26G>A, NM_001352542.2:c.*26G>A, NM_001352542.1:c.*26G>A, NM_001352540.2:c.*121G>A, NM_001352540.1:c.*121G>A, NM_001352531.2:c.*26G>A, NM_001352531.1:c.*26G>A, NM_001352554.2:c.214G>A, NM_001352554.1:c.214G>A, NM_001352537.2:c.373G>A, NM_001352537.1:c.373G>A, NM_001352539.2:c.373G>A, NM_001352539.1:c.373G>A, NM_001320689.2:c.274G>A, NM_001320689.1:c.274G>A, NM_001352541.2:c.*26G>A, NM_001352541.1:c.*26G>A, NM_001352538.2:c.373G>A, NM_001352538.1:c.373G>A, NM_001352550.2:c.*121G>A, NM_001352550.1:c.*121G>A, NM_001352532.2:c.*26G>A, NM_001352532.1:c.*26G>A, NM_001352544.2:c.319G>A, NM_001352544.1:c.319G>A, NM_001352549.2:c.*121G>A, NM_001352549.1:c.*121G>A, NM_001352545.2:c.310G>A, NM_001352545.1:c.310G>A, NM_001352547.2:c.274G>A, NM_001352547.1:c.274G>A, NM_001352536.2:c.373G>A, NM_001352536.1:c.373G>A, NM_001320690.2:c.274G>A, NM_001320690.1:c.274G>A, NM_001352555.2:c.*143G>A, NM_001352555.1:c.*143G>A, NM_001320682.2:c.274G>A, NM_001320682.1:c.274G>A, NM_001352546.2:c.283G>A, NM_001352546.1:c.283G>A, NM_001352551.2:c.244G>A, NM_001352551.1:c.244G>A, NR_148022.2:n.300G>A, NR_148022.1:n.332G>A, NR_148024.2:n.245G>A, NR_148024.1:n.245G>A, NR_148023.2:n.198G>A, NR_148023.1:n.230G>A, XM_047425020.1:c.535G>A, XM_047425003.1:c.*121G>A, XM_047425007.1:c.1015G>A, XM_047425025.1:c.*26G>A, XM_047425005.1:c.1174G>A, XM_047425006.1:c.1042G>A, XM_047425013.1:c.*121G>A, XM_047425009.1:c.994G>A, XM_047425012.1:c.781G>A, XM_047425022.1:c.535G>A, XM_047425017.1:c.*121G>A, XM_047425010.1:c.799G>A, XM_047425015.1:c.616G>A, XM_047425030.1:c.*121G>A, XM_047425026.1:c.*143G>A, XM_047425018.1:c.*121G>A, XM_047425023.1:c.535G>A, XM_047425024.1:c.532G>A, XM_047425027.1:c.*121G>A, XM_047425029.1:c.274G>A, XM_047425033.1:c.*143G>A, XM_047425028.1:c.*121G>A, XM_047425034.1:c.*143G>A, XM_047425031.1:c.*26G>A, NM_001042389.1:c.1258G>A, NM_001042395.1:c.1015G>A, NM_001042390.1:c.1231G>A, NM_001042387.1:c.*26G>A, NM_001042391.1:c.805G>A, NM_001042392.1:c.682G>A, NM_001042393.1:c.*26G>A, NM_001042396.1:c.*26G>A, NM_001042394.1:c.*26G>A, NM_001042397.1:c.*26G>A, NP_001035816.1:p.Asp420Asn, NP_001035817.1:p.Asp411Asn, NP_001035822.1:p.Asp339Asn, XP_011537908.1:p.Asp420Asn, NP_001035818.1:p.Asp269Asn, NP_001035819.1:p.Asp228Asn, XP_011537909.1:p.Asp420Asn, XP_011537907.1:p.Asp420Asn, XP_011537912.1:p.Asp339Asn, XP_016871534.1:p.Asp380Asn, NP_001307614.1:p.Asp392Asn, NP_001339456.1:p.Asp179Asn, NP_001339450.1:p.Asp392Asn, NP_001307615.1:p.Asp339Asn, NP_001339457.1:p.Asp179Asn, NP_001307610.1:p.Asp339Asn, NP_001307620.1:p.Asp179Asn, NP_001339472.1:p.Asp107Asn, NP_001339454.1:p.Asp179Asn, NP_001339458.1:p.Asp179Asn, NP_001339451.1:p.Asp267Asn, NP_001339481.1:p.Asp72Asn, NP_001339459.1:p.Asp179Asn, NP_001339482.1:p.Asp72Asn, NP_001307613.1:p.Asp206Asn, NP_001307617.1:p.Asp197Asn, NP_001339455.1:p.Asp179Asn, NP_001339463.1:p.Asp178Asn, NP_001339453.1:p.Asp197Asn, NP_001339477.1:p.Asp92Asn, NP_001339483.1:p.Asp72Asn, NP_001339466.1:p.Asp125Asn, NP_001339468.1:p.Asp125Asn, NP_001307618.1:p.Asp92Asn, NP_001339467.1:p.Asp125Asn, NP_001339473.1:p.Asp107Asn, NP_001339474.1:p.Asp104Asn, NP_001339476.1:p.Asp92Asn, NP_001339465.1:p.Asp125Asn, NP_001307619.1:p.Asp92Asn, NP_001307611.1:p.Asp92Asn, NP_001339475.1:p.Asp95Asn, NP_001339480.1:p.Asp82Asn, XP_047280976.1:p.Asp179Asn, XP_047280963.1:p.Asp339Asn, XP_047280961.1:p.Asp392Asn, XP_047280962.1:p.Asp348Asn, XP_047280965.1:p.Asp332Asn, XP_047280968.1:p.Asp261Asn, XP_047280978.1:p.Asp179Asn, XP_047280966.1:p.Asp267Asn, XP_047280971.1:p.Asp206Asn, XP_047280979.1:p.Asp179Asn, XP_047280980.1:p.Asp178Asn, XP_047280985.1:p.Asp92Asn

              7.

              rs1260568425 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:46999963 (GRCh38)
                10:48739399 (GRCh37)
                Canonical SPDI:
                NC_000010.11:46999962:G:A
                Gene:
                PTPN20 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.46999963G>A, NW_003871068.1:g.1271078G>A, NC_000010.10:g.48739399C>T, NM_015605.9:c.635G>A, NM_015605.8:c.635G>A, NM_015605.7:c.635G>A, NM_001042357.5:c.1186G>A, NM_001042357.4:c.1186G>A, NM_001042357.3:c.1186G>A, NM_001042358.5:c.1159G>A, NM_001042358.4:c.1159G>A, NM_001042358.3:c.1159G>A, NM_001042363.5:c.943G>A, NM_001042363.4:c.943G>A, NM_001042363.3:c.943G>A, NM_001042361.5:c.608G>A, NM_001042361.4:c.608G>A, NM_001042361.3:c.608G>A, NM_001042364.5:c.392G>A, NM_001042364.4:c.392G>A, NM_001042364.3:c.392G>A, XM_011539606.4:c.1186G>A, XM_011539606.3:c.1186G>A, XM_011539606.2:c.1186G>A, XM_011539606.1:c.1186G>A, NM_001042359.4:c.733G>A, NM_001042359.3:c.733G>A, NM_001042359.2:c.733G>A, NM_001042360.4:c.610G>A, NM_001042360.3:c.610G>A, NM_001042360.2:c.610G>A, NM_001042362.4:c.365G>A, NM_001042362.3:c.365G>A, NM_001042362.2:c.365G>A, NM_001042365.4:c.149G>A, NM_001042365.3:c.149G>A, NM_001042365.2:c.149G>A, XM_011539607.3:c.1186G>A, XM_011539607.2:c.1186G>A, XM_011539607.1:c.1186G>A, XM_011539605.3:c.1186G>A, XM_011539605.2:c.1186G>A, XM_011539605.1:c.1186G>A, XM_011539610.3:c.943G>A, XM_011539610.2:c.943G>A, XM_011539610.1:c.943G>A, XM_017016045.2:c.1066G>A, XM_017016045.1:c.1066G>A, NM_001320685.2:c.1102G>A, NM_001320685.1:c.1102G>A, NM_001352527.2:c.463G>A, NM_001352527.1:c.463G>A, NM_001352521.2:c.1102G>A, NM_001352521.1:c.1102G>A, NM_001320686.2:c.943G>A, NM_001320686.1:c.943G>A, NM_001352528.2:c.463G>A, NM_001352528.1:c.463G>A, NM_001320681.2:c.943G>A, NM_001320681.1:c.943G>A, NM_001320691.2:c.463G>A, NM_001320691.1:c.463G>A, NM_001352543.2:c.247G>A, NM_001352543.1:c.247G>A, NM_001352525.2:c.463G>A, NM_001352525.1:c.463G>A, NM_001352529.2:c.463G>A, NM_001352529.1:c.463G>A, NM_001352522.2:c.727G>A, NM_001352522.1:c.727G>A, NM_001352552.2:c.142G>A, NM_001352552.1:c.142G>A, NM_001320683.2:c.635G>A, NM_001320683.1:c.635G>A, NM_001352530.2:c.463G>A, NM_001352530.1:c.463G>A, NM_001352553.2:c.142G>A, NM_001352553.1:c.142G>A, NM_001320684.2:c.544G>A, NM_001320684.1:c.544G>A, NM_001320688.2:c.517G>A, NM_001320688.1:c.517G>A, NM_001352523.2:c.551G>A, NM_001352523.1:c.551G>A, NM_001352535.2:c.392G>A, NM_001352535.1:c.392G>A, NM_001352526.2:c.463G>A, NM_001352526.1:c.463G>A, NM_001352534.2:c.460G>A, NM_001352534.1:c.460G>A, NM_001352524.2:c.517G>A, NM_001352524.1:c.517G>A, NM_001352548.2:c.202G>A, NM_001352548.1:c.202G>A, NM_001352533.2:c.392G>A, NM_001352533.1:c.392G>A, NM_001352542.2:c.308G>A, NM_001352542.1:c.308G>A, NM_001352540.2:c.301G>A, NM_001352540.1:c.301G>A, NM_001352531.2:c.392G>A, NM_001352531.1:c.392G>A, NM_001352554.2:c.142G>A, NM_001352554.1:c.142G>A, NM_001352537.2:c.301G>A, NM_001352537.1:c.301G>A, NM_001352539.2:c.301G>A, NM_001352539.1:c.301G>A, NM_001320689.2:c.202G>A, NM_001320689.1:c.202G>A, NM_001352541.2:c.308G>A, NM_001352541.1:c.308G>A, NM_001352538.2:c.301G>A, NM_001352538.1:c.301G>A, NM_001352550.2:c.202G>A, NM_001352550.1:c.202G>A, NM_001352532.2:c.392G>A, NM_001352532.1:c.392G>A, NM_001352544.2:c.247G>A, NM_001352544.1:c.247G>A, NM_001352549.2:c.202G>A, NM_001352549.1:c.202G>A, NM_001352545.2:c.238G>A, NM_001352545.1:c.238G>A, NM_001352547.2:c.202G>A, NM_001352547.1:c.202G>A, NM_001352536.2:c.301G>A, NM_001352536.1:c.301G>A, NM_001320690.2:c.202G>A, NM_001320690.1:c.202G>A, NM_001352555.2:c.149G>A, NM_001352555.1:c.149G>A, NM_001320682.2:c.202G>A, NM_001320682.1:c.202G>A, NM_001352546.2:c.211G>A, NM_001352546.1:c.211G>A, NM_001352551.2:c.172G>A, NM_001352551.1:c.172G>A, NR_148022.2:n.126G>A, NR_148022.1:n.158G>A, NR_148024.2:n.173G>A, NR_148024.1:n.173G>A, NR_148023.2:n.126G>A, NR_148023.1:n.158G>A, XM_047425020.1:c.463G>A, XM_047425003.1:c.1186G>A, XM_047425007.1:c.943G>A, XM_047425025.1:c.392G>A, XM_047425005.1:c.1102G>A, XM_047425006.1:c.970G>A, XM_047425013.1:c.727G>A, XM_047425009.1:c.922G>A, XM_047425004.1:c.1186G>A, XM_047425012.1:c.709G>A, XM_047425022.1:c.463G>A, XM_047425017.1:c.544G>A, XM_047425010.1:c.727G>A, XM_047425015.1:c.544G>A, XM_047425030.1:c.202G>A, XM_047425026.1:c.392G>A, XM_047425018.1:c.517G>A, XM_047425023.1:c.463G>A, XM_047425008.1:c.970G>A, XM_047425024.1:c.460G>A, XM_047425027.1:c.301G>A, XM_047425029.1:c.202G>A, XM_047425033.1:c.149G>A, XM_047425028.1:c.301G>A, XM_047425034.1:c.149G>A, XM_047425031.1:c.149G>A, NM_001042389.1:c.1186G>A, NM_001042395.1:c.943G>A, NM_001042390.1:c.1159G>A, NM_001042387.1:c.635G>A, NM_001042391.1:c.733G>A, NM_001042392.1:c.610G>A, NM_001042393.1:c.608G>A, NM_001042396.1:c.392G>A, NM_001042394.1:c.365G>A, NM_001042397.1:c.149G>A, NP_056420.3:p.Gly212Asp, NP_001035816.1:p.Val396Ile, NP_001035817.1:p.Val387Ile, NP_001035822.1:p.Val315Ile, NP_001035820.1:p.Gly203Asp, NP_001035823.1:p.Gly131Asp, XP_011537908.1:p.Val396Ile, NP_001035818.1:p.Val245Ile, NP_001035819.1:p.Val204Ile, NP_001035821.1:p.Gly122Asp, NP_001035824.1:p.Gly50Asp, XP_011537909.1:p.Val396Ile, XP_011537907.1:p.Val396Ile, XP_011537912.1:p.Val315Ile, XP_016871534.1:p.Val356Ile, NP_001307614.1:p.Val368Ile, NP_001339456.1:p.Val155Ile, NP_001339450.1:p.Val368Ile, NP_001307615.1:p.Val315Ile, NP_001339457.1:p.Val155Ile, NP_001307610.1:p.Val315Ile, NP_001307620.1:p.Val155Ile, NP_001339472.1:p.Val83Ile, NP_001339454.1:p.Val155Ile, NP_001339458.1:p.Val155Ile, NP_001339451.1:p.Val243Ile, NP_001339481.1:p.Val48Ile, NP_001307612.1:p.Gly212Asp, NP_001339459.1:p.Val155Ile, NP_001339482.1:p.Val48Ile, NP_001307613.1:p.Val182Ile, NP_001307617.1:p.Val173Ile, NP_001339452.1:p.Gly184Asp, NP_001339464.1:p.Gly131Asp, NP_001339455.1:p.Val155Ile, NP_001339463.1:p.Val154Ile, NP_001339453.1:p.Val173Ile, NP_001339477.1:p.Val68Ile, NP_001339462.1:p.Gly131Asp, NP_001339471.1:p.Gly103Asp, NP_001339469.1:p.Val101Ile, NP_001339460.1:p.Gly131Asp, NP_001339483.1:p.Val48Ile, NP_001339466.1:p.Val101Ile, NP_001339468.1:p.Val101Ile, NP_001307618.1:p.Val68Ile, NP_001339470.1:p.Gly103Asp, NP_001339467.1:p.Val101Ile, NP_001339479.1:p.Val68Ile, NP_001339461.1:p.Gly131Asp, NP_001339473.1:p.Val83Ile, NP_001339478.1:p.Val68Ile, NP_001339474.1:p.Val80Ile, NP_001339476.1:p.Val68Ile, NP_001339465.1:p.Val101Ile, NP_001307619.1:p.Val68Ile, NP_001339484.1:p.Gly50Asp, NP_001307611.1:p.Val68Ile, NP_001339475.1:p.Val71Ile, NP_001339480.1:p.Val58Ile, XP_047280976.1:p.Val155Ile, XP_047280959.1:p.Val396Ile, XP_047280963.1:p.Val315Ile, XP_047280981.1:p.Gly131Asp, XP_047280961.1:p.Val368Ile, XP_047280962.1:p.Val324Ile, XP_047280969.1:p.Val243Ile, XP_047280965.1:p.Val308Ile, XP_047280960.1:p.Val396Ile, XP_047280968.1:p.Val237Ile, XP_047280978.1:p.Val155Ile, XP_047280973.1:p.Val182Ile, XP_047280966.1:p.Val243Ile, XP_047280971.1:p.Val182Ile, XP_047280986.1:p.Val68Ile, XP_047280982.1:p.Gly131Asp, XP_047280974.1:p.Val173Ile, XP_047280979.1:p.Val155Ile, XP_047280964.1:p.Val324Ile, XP_047280980.1:p.Val154Ile, XP_047280983.1:p.Val101Ile, XP_047280985.1:p.Val68Ile, XP_047280989.1:p.Gly50Asp, XP_047280984.1:p.Val101Ile, XP_047280990.1:p.Gly50Asp, XP_047280987.1:p.Gly50Asp

                8.

                rs1242409057 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  10:47000695 (GRCh38)
                  10:48738667 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:47000694:A:T
                  Gene:
                  PTPN20 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000010.11:g.47000695A>T, NW_003871068.1:g.1271810A>T, NC_000010.10:g.48738667T>A, NM_015605.9:c.666A>T, NM_015605.8:c.666A>T, NM_015605.7:c.666A>T, NM_001042357.5:c.1217A>T, NM_001042357.4:c.1217A>T, NM_001042357.3:c.1217A>T, NM_001042358.5:c.1190A>T, NM_001042358.4:c.1190A>T, NM_001042358.3:c.1190A>T, NM_001042363.5:c.974A>T, NM_001042363.4:c.974A>T, NM_001042363.3:c.974A>T, NM_001042361.5:c.639A>T, NM_001042361.4:c.639A>T, NM_001042361.3:c.639A>T, NM_001042364.5:c.423A>T, NM_001042364.4:c.423A>T, NM_001042364.3:c.423A>T, XM_011539606.4:c.1217A>T, XM_011539606.3:c.1217A>T, XM_011539606.2:c.1217A>T, XM_011539606.1:c.1217A>T, NM_001042359.4:c.764A>T, NM_001042359.3:c.764A>T, NM_001042359.2:c.764A>T, NM_001042360.4:c.641A>T, NM_001042360.3:c.641A>T, NM_001042360.2:c.641A>T, NM_001042362.4:c.396A>T, NM_001042362.3:c.396A>T, NM_001042362.2:c.396A>T, NM_001042365.4:c.180A>T, NM_001042365.3:c.180A>T, NM_001042365.2:c.180A>T, XM_011539607.3:c.1217A>T, XM_011539607.2:c.1217A>T, XM_011539607.1:c.1217A>T, XM_011539605.3:c.1217A>T, XM_011539605.2:c.1217A>T, XM_011539605.1:c.1217A>T, XM_011539610.3:c.974A>T, XM_011539610.2:c.974A>T, XM_011539610.1:c.974A>T, XM_017016045.2:c.1097A>T, XM_017016045.1:c.1097A>T, NM_001320685.2:c.1133A>T, NM_001320685.1:c.1133A>T, NM_001352527.2:c.494A>T, NM_001352527.1:c.494A>T, NM_001352521.2:c.1133A>T, NM_001352521.1:c.1133A>T, NM_001320686.2:c.974A>T, NM_001320686.1:c.974A>T, NM_001352528.2:c.494A>T, NM_001352528.1:c.494A>T, NM_001320681.2:c.974A>T, NM_001320681.1:c.974A>T, NM_001320691.2:c.494A>T, NM_001320691.1:c.494A>T, NM_001352543.2:c.278A>T, NM_001352543.1:c.278A>T, NM_001352525.2:c.494A>T, NM_001352525.1:c.494A>T, NM_001352529.2:c.494A>T, NM_001352529.1:c.494A>T, NM_001352522.2:c.758A>T, NM_001352522.1:c.758A>T, NM_001352552.2:c.173A>T, NM_001352552.1:c.173A>T, NM_001320683.2:c.666A>T, NM_001320683.1:c.666A>T, NM_001352530.2:c.494A>T, NM_001352530.1:c.494A>T, NM_001352553.2:c.173A>T, NM_001352553.1:c.173A>T, NM_001320684.2:c.575A>T, NM_001320684.1:c.575A>T, NM_001320688.2:c.548A>T, NM_001320688.1:c.548A>T, NM_001352523.2:c.582A>T, NM_001352523.1:c.582A>T, NM_001352535.2:c.*102A>T, NM_001352535.1:c.*102A>T, NM_001352526.2:c.494A>T, NM_001352526.1:c.494A>T, NM_001352534.2:c.491A>T, NM_001352534.1:c.491A>T, NM_001352524.2:c.548A>T, NM_001352524.1:c.548A>T, NM_001352548.2:c.233A>T, NM_001352548.1:c.233A>T, NM_001352533.2:c.423A>T, NM_001352533.1:c.423A>T, NM_001352542.2:c.339A>T, NM_001352542.1:c.339A>T, NM_001352540.2:c.*80A>T, NM_001352540.1:c.*80A>T, NM_001352531.2:c.423A>T, NM_001352531.1:c.423A>T, NM_001352554.2:c.173A>T, NM_001352554.1:c.173A>T, NM_001352537.2:c.332A>T, NM_001352537.1:c.332A>T, NM_001352539.2:c.332A>T, NM_001352539.1:c.332A>T, NM_001320689.2:c.233A>T, NM_001320689.1:c.233A>T, NM_001352541.2:c.339A>T, NM_001352541.1:c.339A>T, NM_001352538.2:c.332A>T, NM_001352538.1:c.332A>T, NM_001352550.2:c.*80A>T, NM_001352550.1:c.*80A>T, NM_001352532.2:c.423A>T, NM_001352532.1:c.423A>T, NM_001352544.2:c.278A>T, NM_001352544.1:c.278A>T, NM_001352549.2:c.*80A>T, NM_001352549.1:c.*80A>T, NM_001352545.2:c.269A>T, NM_001352545.1:c.269A>T, NM_001352547.2:c.233A>T, NM_001352547.1:c.233A>T, NM_001352536.2:c.332A>T, NM_001352536.1:c.332A>T, NM_001320690.2:c.233A>T, NM_001320690.1:c.233A>T, NM_001352555.2:c.*102A>T, NM_001352555.1:c.*102A>T, NM_001320682.2:c.233A>T, NM_001320682.1:c.233A>T, NM_001352546.2:c.242A>T, NM_001352546.1:c.242A>T, NM_001352551.2:c.203A>T, NM_001352551.1:c.203A>T, NR_148022.2:n.259A>T, NR_148022.1:n.291A>T, NR_148024.2:n.204A>T, NR_148024.1:n.204A>T, NR_148023.2:n.157A>T, NR_148023.1:n.189A>T, XM_047425020.1:c.494A>T, XM_047425003.1:c.*80A>T, XM_047425007.1:c.974A>T, XM_047425025.1:c.423A>T, XM_047425005.1:c.1133A>T, XM_047425006.1:c.1001A>T, XM_047425013.1:c.*80A>T, XM_047425009.1:c.953A>T, XM_047425012.1:c.740A>T, XM_047425022.1:c.494A>T, XM_047425017.1:c.*80A>T, XM_047425010.1:c.758A>T, XM_047425015.1:c.575A>T, XM_047425030.1:c.*80A>T, XM_047425026.1:c.*102A>T, XM_047425018.1:c.*80A>T, XM_047425023.1:c.494A>T, XM_047425024.1:c.491A>T, XM_047425027.1:c.*80A>T, XM_047425029.1:c.233A>T, XM_047425033.1:c.*102A>T, XM_047425028.1:c.*80A>T, XM_047425034.1:c.*102A>T, XM_047425031.1:c.180A>T, NM_001042389.1:c.1217A>T, NM_001042395.1:c.974A>T, NM_001042390.1:c.1190A>T, NM_001042387.1:c.666A>T, NM_001042391.1:c.764A>T, NM_001042392.1:c.641A>T, NM_001042393.1:c.639A>T, NM_001042396.1:c.423A>T, NM_001042394.1:c.396A>T, NM_001042397.1:c.180A>T, NP_056420.3:p.Leu222Phe, NP_001035816.1:p.Tyr406Phe, NP_001035817.1:p.Tyr397Phe, NP_001035822.1:p.Tyr325Phe, NP_001035820.1:p.Leu213Phe, NP_001035823.1:p.Leu141Phe, XP_011537908.1:p.Tyr406Phe, NP_001035818.1:p.Tyr255Phe, NP_001035819.1:p.Tyr214Phe, NP_001035821.1:p.Leu132Phe, NP_001035824.1:p.Leu60Phe, XP_011537909.1:p.Tyr406Phe, XP_011537907.1:p.Tyr406Phe, XP_011537912.1:p.Tyr325Phe, XP_016871534.1:p.Tyr366Phe, NP_001307614.1:p.Tyr378Phe, NP_001339456.1:p.Tyr165Phe, NP_001339450.1:p.Tyr378Phe, NP_001307615.1:p.Tyr325Phe, NP_001339457.1:p.Tyr165Phe, NP_001307610.1:p.Tyr325Phe, NP_001307620.1:p.Tyr165Phe, NP_001339472.1:p.Tyr93Phe, NP_001339454.1:p.Tyr165Phe, NP_001339458.1:p.Tyr165Phe, NP_001339451.1:p.Tyr253Phe, NP_001339481.1:p.Tyr58Phe, NP_001307612.1:p.Leu222Phe, NP_001339459.1:p.Tyr165Phe, NP_001339482.1:p.Tyr58Phe, NP_001307613.1:p.Tyr192Phe, NP_001307617.1:p.Tyr183Phe, NP_001339452.1:p.Leu194Phe, NP_001339455.1:p.Tyr165Phe, NP_001339463.1:p.Tyr164Phe, NP_001339453.1:p.Tyr183Phe, NP_001339477.1:p.Tyr78Phe, NP_001339462.1:p.Leu141Phe, NP_001339471.1:p.Leu113Phe, NP_001339460.1:p.Leu141Phe, NP_001339483.1:p.Tyr58Phe, NP_001339466.1:p.Tyr111Phe, NP_001339468.1:p.Tyr111Phe, NP_001307618.1:p.Tyr78Phe, NP_001339470.1:p.Leu113Phe, NP_001339467.1:p.Tyr111Phe, NP_001339461.1:p.Leu141Phe, NP_001339473.1:p.Tyr93Phe, NP_001339474.1:p.Tyr90Phe, NP_001339476.1:p.Tyr78Phe, NP_001339465.1:p.Tyr111Phe, NP_001307619.1:p.Tyr78Phe, NP_001307611.1:p.Tyr78Phe, NP_001339475.1:p.Tyr81Phe, NP_001339480.1:p.Tyr68Phe, XP_047280976.1:p.Tyr165Phe, XP_047280963.1:p.Tyr325Phe, XP_047280981.1:p.Leu141Phe, XP_047280961.1:p.Tyr378Phe, XP_047280962.1:p.Tyr334Phe, XP_047280965.1:p.Tyr318Phe, XP_047280968.1:p.Tyr247Phe, XP_047280978.1:p.Tyr165Phe, XP_047280966.1:p.Tyr253Phe, XP_047280971.1:p.Tyr192Phe, XP_047280979.1:p.Tyr165Phe, XP_047280980.1:p.Tyr164Phe, XP_047280985.1:p.Tyr78Phe, XP_047280987.1:p.Leu60Phe

                  9.

                  rs1230642633 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:47000718 (GRCh38)
                    10:48738644 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:47000717:C:T
                    Gene:
                    PTPN20 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000142/2 (ALFA)
                    T=0.000036/5 (GnomAD)
                    T=0.000038/10 (TOPMED)
                    T=0.000156/1 (1000Genomes)
                    HGVS:
                    NC_000010.11:g.47000718C>T, NW_003871068.1:g.1271833C>T, NC_000010.10:g.48738644G>A, NM_015605.9:c.*8C>T, NM_015605.8:c.*8C>T, NM_015605.7:c.*8C>T, NM_001042357.5:c.1240C>T, NM_001042357.4:c.1240C>T, NM_001042357.3:c.1240C>T, NM_001042358.5:c.1213C>T, NM_001042358.4:c.1213C>T, NM_001042358.3:c.1213C>T, NM_001042363.5:c.997C>T, NM_001042363.4:c.997C>T, NM_001042363.3:c.997C>T, NM_001042361.5:c.*8C>T, NM_001042361.4:c.*8C>T, NM_001042361.3:c.*8C>T, NM_001042364.5:c.*8C>T, NM_001042364.4:c.*8C>T, NM_001042364.3:c.*8C>T, XM_011539606.4:c.1240C>T, XM_011539606.3:c.1240C>T, XM_011539606.2:c.1240C>T, XM_011539606.1:c.1240C>T, NM_001042359.4:c.787C>T, NM_001042359.3:c.787C>T, NM_001042359.2:c.787C>T, NM_001042360.4:c.664C>T, NM_001042360.3:c.664C>T, NM_001042360.2:c.664C>T, NM_001042362.4:c.*8C>T, NM_001042362.3:c.*8C>T, NM_001042362.2:c.*8C>T, NM_001042365.4:c.*8C>T, NM_001042365.3:c.*8C>T, NM_001042365.2:c.*8C>T, XM_011539607.3:c.1240C>T, XM_011539607.2:c.1240C>T, XM_011539607.1:c.1240C>T, XM_011539605.3:c.1240C>T, XM_011539605.2:c.1240C>T, XM_011539605.1:c.1240C>T, XM_011539610.3:c.997C>T, XM_011539610.2:c.997C>T, XM_011539610.1:c.997C>T, XM_017016045.2:c.1120C>T, XM_017016045.1:c.1120C>T, NM_001320685.2:c.1156C>T, NM_001320685.1:c.1156C>T, NM_001352527.2:c.517C>T, NM_001352527.1:c.517C>T, NM_001352521.2:c.1156C>T, NM_001352521.1:c.1156C>T, NM_001320686.2:c.997C>T, NM_001320686.1:c.997C>T, NM_001352528.2:c.517C>T, NM_001352528.1:c.517C>T, NM_001320681.2:c.997C>T, NM_001320681.1:c.997C>T, NM_001320691.2:c.517C>T, NM_001320691.1:c.517C>T, NM_001352543.2:c.301C>T, NM_001352543.1:c.301C>T, NM_001352525.2:c.517C>T, NM_001352525.1:c.517C>T, NM_001352529.2:c.517C>T, NM_001352529.1:c.517C>T, NM_001352522.2:c.781C>T, NM_001352522.1:c.781C>T, NM_001352552.2:c.196C>T, NM_001352552.1:c.196C>T, NM_001320683.2:c.*8C>T, NM_001320683.1:c.*8C>T, NM_001352530.2:c.517C>T, NM_001352530.1:c.517C>T, NM_001352553.2:c.196C>T, NM_001352553.1:c.196C>T, NM_001320684.2:c.598C>T, NM_001320684.1:c.598C>T, NM_001320688.2:c.571C>T, NM_001320688.1:c.571C>T, NM_001352523.2:c.*8C>T, NM_001352523.1:c.*8C>T, NM_001352535.2:c.*125C>T, NM_001352535.1:c.*125C>T, NM_001352526.2:c.517C>T, NM_001352526.1:c.517C>T, NM_001352534.2:c.514C>T, NM_001352534.1:c.514C>T, NM_001352524.2:c.571C>T, NM_001352524.1:c.571C>T, NM_001352548.2:c.256C>T, NM_001352548.1:c.256C>T, NM_001352533.2:c.*8C>T, NM_001352533.1:c.*8C>T, NM_001352542.2:c.*8C>T, NM_001352542.1:c.*8C>T, NM_001352540.2:c.*103C>T, NM_001352540.1:c.*103C>T, NM_001352531.2:c.*8C>T, NM_001352531.1:c.*8C>T, NM_001352554.2:c.196C>T, NM_001352554.1:c.196C>T, NM_001352537.2:c.355C>T, NM_001352537.1:c.355C>T, NM_001352539.2:c.355C>T, NM_001352539.1:c.355C>T, NM_001320689.2:c.256C>T, NM_001320689.1:c.256C>T, NM_001352541.2:c.*8C>T, NM_001352541.1:c.*8C>T, NM_001352538.2:c.355C>T, NM_001352538.1:c.355C>T, NM_001352550.2:c.*103C>T, NM_001352550.1:c.*103C>T, NM_001352532.2:c.*8C>T, NM_001352532.1:c.*8C>T, NM_001352544.2:c.301C>T, NM_001352544.1:c.301C>T, NM_001352549.2:c.*103C>T, NM_001352549.1:c.*103C>T, NM_001352545.2:c.292C>T, NM_001352545.1:c.292C>T, NM_001352547.2:c.256C>T, NM_001352547.1:c.256C>T, NM_001352536.2:c.355C>T, NM_001352536.1:c.355C>T, NM_001320690.2:c.256C>T, NM_001320690.1:c.256C>T, NM_001352555.2:c.*125C>T, NM_001352555.1:c.*125C>T, NM_001320682.2:c.256C>T, NM_001320682.1:c.256C>T, NM_001352546.2:c.265C>T, NM_001352546.1:c.265C>T, NM_001352551.2:c.226C>T, NM_001352551.1:c.226C>T, NR_148022.2:n.282C>T, NR_148022.1:n.314C>T, NR_148024.2:n.227C>T, NR_148024.1:n.227C>T, NR_148023.2:n.180C>T, NR_148023.1:n.212C>T, XM_047425020.1:c.517C>T, XM_047425003.1:c.*103C>T, XM_047425007.1:c.997C>T, XM_047425025.1:c.*8C>T, XM_047425005.1:c.1156C>T, XM_047425006.1:c.1024C>T, XM_047425013.1:c.*103C>T, XM_047425009.1:c.976C>T, XM_047425012.1:c.763C>T, XM_047425022.1:c.517C>T, XM_047425017.1:c.*103C>T, XM_047425010.1:c.781C>T, XM_047425015.1:c.598C>T, XM_047425030.1:c.*103C>T, XM_047425026.1:c.*125C>T, XM_047425018.1:c.*103C>T, XM_047425023.1:c.517C>T, XM_047425024.1:c.514C>T, XM_047425027.1:c.*103C>T, XM_047425029.1:c.256C>T, XM_047425033.1:c.*125C>T, XM_047425028.1:c.*103C>T, XM_047425034.1:c.*125C>T, XM_047425031.1:c.*8C>T, NM_001042389.1:c.1240C>T, NM_001042395.1:c.997C>T, NM_001042390.1:c.1213C>T, NM_001042387.1:c.*8C>T, NM_001042391.1:c.787C>T, NM_001042392.1:c.664C>T, NM_001042393.1:c.*8C>T, NM_001042396.1:c.*8C>T, NM_001042394.1:c.*8C>T, NM_001042397.1:c.*8C>T, NP_001035816.1:p.Arg414Trp, NP_001035817.1:p.Arg405Trp, NP_001035822.1:p.Arg333Trp, XP_011537908.1:p.Arg414Trp, NP_001035818.1:p.Arg263Trp, NP_001035819.1:p.Arg222Trp, XP_011537909.1:p.Arg414Trp, XP_011537907.1:p.Arg414Trp, XP_011537912.1:p.Arg333Trp, XP_016871534.1:p.Arg374Trp, NP_001307614.1:p.Arg386Trp, NP_001339456.1:p.Arg173Trp, NP_001339450.1:p.Arg386Trp, NP_001307615.1:p.Arg333Trp, NP_001339457.1:p.Arg173Trp, NP_001307610.1:p.Arg333Trp, NP_001307620.1:p.Arg173Trp, NP_001339472.1:p.Arg101Trp, NP_001339454.1:p.Arg173Trp, NP_001339458.1:p.Arg173Trp, NP_001339451.1:p.Arg261Trp, NP_001339481.1:p.Arg66Trp, NP_001339459.1:p.Arg173Trp, NP_001339482.1:p.Arg66Trp, NP_001307613.1:p.Arg200Trp, NP_001307617.1:p.Arg191Trp, NP_001339455.1:p.Arg173Trp, NP_001339463.1:p.Arg172Trp, NP_001339453.1:p.Arg191Trp, NP_001339477.1:p.Arg86Trp, NP_001339483.1:p.Arg66Trp, NP_001339466.1:p.Arg119Trp, NP_001339468.1:p.Arg119Trp, NP_001307618.1:p.Arg86Trp, NP_001339467.1:p.Arg119Trp, NP_001339473.1:p.Arg101Trp, NP_001339474.1:p.Arg98Trp, NP_001339476.1:p.Arg86Trp, NP_001339465.1:p.Arg119Trp, NP_001307619.1:p.Arg86Trp, NP_001307611.1:p.Arg86Trp, NP_001339475.1:p.Arg89Trp, NP_001339480.1:p.Arg76Trp, XP_047280976.1:p.Arg173Trp, XP_047280963.1:p.Arg333Trp, XP_047280961.1:p.Arg386Trp, XP_047280962.1:p.Arg342Trp, XP_047280965.1:p.Arg326Trp, XP_047280968.1:p.Arg255Trp, XP_047280978.1:p.Arg173Trp, XP_047280966.1:p.Arg261Trp, XP_047280971.1:p.Arg200Trp, XP_047280979.1:p.Arg173Trp, XP_047280980.1:p.Arg172Trp, XP_047280985.1:p.Arg86Trp

                    10.

                    rs1203286353 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:47000719 (GRCh38)
                      10:48738643 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:47000718:G:A
                      Gene:
                      PTPN20 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000015/4 (TOPMED)
                      A=0.000156/1 (1000Genomes)
                      HGVS:
                      NC_000010.11:g.47000719G>A, NW_003871068.1:g.1271834G>A, NC_000010.10:g.48738643C>T, NM_015605.9:c.*9G>A, NM_015605.8:c.*9G>A, NM_015605.7:c.*9G>A, NM_001042357.5:c.1241G>A, NM_001042357.4:c.1241G>A, NM_001042357.3:c.1241G>A, NM_001042358.5:c.1214G>A, NM_001042358.4:c.1214G>A, NM_001042358.3:c.1214G>A, NM_001042363.5:c.998G>A, NM_001042363.4:c.998G>A, NM_001042363.3:c.998G>A, NM_001042361.5:c.*9G>A, NM_001042361.4:c.*9G>A, NM_001042361.3:c.*9G>A, NM_001042364.5:c.*9G>A, NM_001042364.4:c.*9G>A, NM_001042364.3:c.*9G>A, XM_011539606.4:c.1241G>A, XM_011539606.3:c.1241G>A, XM_011539606.2:c.1241G>A, XM_011539606.1:c.1241G>A, NM_001042359.4:c.788G>A, NM_001042359.3:c.788G>A, NM_001042359.2:c.788G>A, NM_001042360.4:c.665G>A, NM_001042360.3:c.665G>A, NM_001042360.2:c.665G>A, NM_001042362.4:c.*9G>A, NM_001042362.3:c.*9G>A, NM_001042362.2:c.*9G>A, NM_001042365.4:c.*9G>A, NM_001042365.3:c.*9G>A, NM_001042365.2:c.*9G>A, XM_011539607.3:c.1241G>A, XM_011539607.2:c.1241G>A, XM_011539607.1:c.1241G>A, XM_011539605.3:c.1241G>A, XM_011539605.2:c.1241G>A, XM_011539605.1:c.1241G>A, XM_011539610.3:c.998G>A, XM_011539610.2:c.998G>A, XM_011539610.1:c.998G>A, XM_017016045.2:c.1121G>A, XM_017016045.1:c.1121G>A, NM_001320685.2:c.1157G>A, NM_001320685.1:c.1157G>A, NM_001352527.2:c.518G>A, NM_001352527.1:c.518G>A, NM_001352521.2:c.1157G>A, NM_001352521.1:c.1157G>A, NM_001320686.2:c.998G>A, NM_001320686.1:c.998G>A, NM_001352528.2:c.518G>A, NM_001352528.1:c.518G>A, NM_001320681.2:c.998G>A, NM_001320681.1:c.998G>A, NM_001320691.2:c.518G>A, NM_001320691.1:c.518G>A, NM_001352543.2:c.302G>A, NM_001352543.1:c.302G>A, NM_001352525.2:c.518G>A, NM_001352525.1:c.518G>A, NM_001352529.2:c.518G>A, NM_001352529.1:c.518G>A, NM_001352522.2:c.782G>A, NM_001352522.1:c.782G>A, NM_001352552.2:c.197G>A, NM_001352552.1:c.197G>A, NM_001320683.2:c.*9G>A, NM_001320683.1:c.*9G>A, NM_001352530.2:c.518G>A, NM_001352530.1:c.518G>A, NM_001352553.2:c.197G>A, NM_001352553.1:c.197G>A, NM_001320684.2:c.599G>A, NM_001320684.1:c.599G>A, NM_001320688.2:c.572G>A, NM_001320688.1:c.572G>A, NM_001352523.2:c.*9G>A, NM_001352523.1:c.*9G>A, NM_001352535.2:c.*126G>A, NM_001352535.1:c.*126G>A, NM_001352526.2:c.518G>A, NM_001352526.1:c.518G>A, NM_001352534.2:c.515G>A, NM_001352534.1:c.515G>A, NM_001352524.2:c.572G>A, NM_001352524.1:c.572G>A, NM_001352548.2:c.257G>A, NM_001352548.1:c.257G>A, NM_001352533.2:c.*9G>A, NM_001352533.1:c.*9G>A, NM_001352542.2:c.*9G>A, NM_001352542.1:c.*9G>A, NM_001352540.2:c.*104G>A, NM_001352540.1:c.*104G>A, NM_001352531.2:c.*9G>A, NM_001352531.1:c.*9G>A, NM_001352554.2:c.197G>A, NM_001352554.1:c.197G>A, NM_001352537.2:c.356G>A, NM_001352537.1:c.356G>A, NM_001352539.2:c.356G>A, NM_001352539.1:c.356G>A, NM_001320689.2:c.257G>A, NM_001320689.1:c.257G>A, NM_001352541.2:c.*9G>A, NM_001352541.1:c.*9G>A, NM_001352538.2:c.356G>A, NM_001352538.1:c.356G>A, NM_001352550.2:c.*104G>A, NM_001352550.1:c.*104G>A, NM_001352532.2:c.*9G>A, NM_001352532.1:c.*9G>A, NM_001352544.2:c.302G>A, NM_001352544.1:c.302G>A, NM_001352549.2:c.*104G>A, NM_001352549.1:c.*104G>A, NM_001352545.2:c.293G>A, NM_001352545.1:c.293G>A, NM_001352547.2:c.257G>A, NM_001352547.1:c.257G>A, NM_001352536.2:c.356G>A, NM_001352536.1:c.356G>A, NM_001320690.2:c.257G>A, NM_001320690.1:c.257G>A, NM_001352555.2:c.*126G>A, NM_001352555.1:c.*126G>A, NM_001320682.2:c.257G>A, NM_001320682.1:c.257G>A, NM_001352546.2:c.266G>A, NM_001352546.1:c.266G>A, NM_001352551.2:c.227G>A, NM_001352551.1:c.227G>A, NR_148022.2:n.283G>A, NR_148022.1:n.315G>A, NR_148024.2:n.228G>A, NR_148024.1:n.228G>A, NR_148023.2:n.181G>A, NR_148023.1:n.213G>A, XM_047425020.1:c.518G>A, XM_047425003.1:c.*104G>A, XM_047425007.1:c.998G>A, XM_047425025.1:c.*9G>A, XM_047425005.1:c.1157G>A, XM_047425006.1:c.1025G>A, XM_047425013.1:c.*104G>A, XM_047425009.1:c.977G>A, XM_047425012.1:c.764G>A, XM_047425022.1:c.518G>A, XM_047425017.1:c.*104G>A, XM_047425010.1:c.782G>A, XM_047425015.1:c.599G>A, XM_047425030.1:c.*104G>A, XM_047425026.1:c.*126G>A, XM_047425018.1:c.*104G>A, XM_047425023.1:c.518G>A, XM_047425024.1:c.515G>A, XM_047425027.1:c.*104G>A, XM_047425029.1:c.257G>A, XM_047425033.1:c.*126G>A, XM_047425028.1:c.*104G>A, XM_047425034.1:c.*126G>A, XM_047425031.1:c.*9G>A, NM_001042389.1:c.1241G>A, NM_001042395.1:c.998G>A, NM_001042390.1:c.1214G>A, NM_001042387.1:c.*9G>A, NM_001042391.1:c.788G>A, NM_001042392.1:c.665G>A, NM_001042393.1:c.*9G>A, NM_001042396.1:c.*9G>A, NM_001042394.1:c.*9G>A, NM_001042397.1:c.*9G>A, NP_001035816.1:p.Arg414Gln, NP_001035817.1:p.Arg405Gln, NP_001035822.1:p.Arg333Gln, XP_011537908.1:p.Arg414Gln, NP_001035818.1:p.Arg263Gln, NP_001035819.1:p.Arg222Gln, XP_011537909.1:p.Arg414Gln, XP_011537907.1:p.Arg414Gln, XP_011537912.1:p.Arg333Gln, XP_016871534.1:p.Arg374Gln, NP_001307614.1:p.Arg386Gln, NP_001339456.1:p.Arg173Gln, NP_001339450.1:p.Arg386Gln, NP_001307615.1:p.Arg333Gln, NP_001339457.1:p.Arg173Gln, NP_001307610.1:p.Arg333Gln, NP_001307620.1:p.Arg173Gln, NP_001339472.1:p.Arg101Gln, NP_001339454.1:p.Arg173Gln, NP_001339458.1:p.Arg173Gln, NP_001339451.1:p.Arg261Gln, NP_001339481.1:p.Arg66Gln, NP_001339459.1:p.Arg173Gln, NP_001339482.1:p.Arg66Gln, NP_001307613.1:p.Arg200Gln, NP_001307617.1:p.Arg191Gln, NP_001339455.1:p.Arg173Gln, NP_001339463.1:p.Arg172Gln, NP_001339453.1:p.Arg191Gln, NP_001339477.1:p.Arg86Gln, NP_001339483.1:p.Arg66Gln, NP_001339466.1:p.Arg119Gln, NP_001339468.1:p.Arg119Gln, NP_001307618.1:p.Arg86Gln, NP_001339467.1:p.Arg119Gln, NP_001339473.1:p.Arg101Gln, NP_001339474.1:p.Arg98Gln, NP_001339476.1:p.Arg86Gln, NP_001339465.1:p.Arg119Gln, NP_001307619.1:p.Arg86Gln, NP_001307611.1:p.Arg86Gln, NP_001339475.1:p.Arg89Gln, NP_001339480.1:p.Arg76Gln, XP_047280976.1:p.Arg173Gln, XP_047280963.1:p.Arg333Gln, XP_047280961.1:p.Arg386Gln, XP_047280962.1:p.Arg342Gln, XP_047280965.1:p.Arg326Gln, XP_047280968.1:p.Arg255Gln, XP_047280978.1:p.Arg173Gln, XP_047280966.1:p.Arg261Gln, XP_047280971.1:p.Arg200Gln, XP_047280979.1:p.Arg173Gln, XP_047280980.1:p.Arg172Gln, XP_047280985.1:p.Arg86Gln

                      11.

                      rs1187850829 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        10:46999951 (GRCh38)
                        10:48739411 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:46999950:C:A,NC_000010.11:46999950:C:T
                        Gene:
                        PTPN20 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00004/1 (TOMMO)
                        HGVS:
                        NC_000010.11:g.46999951C>A, NC_000010.11:g.46999951C>T, NW_003871068.1:g.1271066C>A, NW_003871068.1:g.1271066C>T, NC_000010.10:g.48739411G>T, NC_000010.10:g.48739411G>A, NM_015605.9:c.623C>A, NM_015605.9:c.623C>T, NM_015605.8:c.623C>A, NM_015605.8:c.623C>T, NM_015605.7:c.623C>A, NM_015605.7:c.623C>T, NM_001042357.5:c.1174C>A, NM_001042357.5:c.1174C>T, NM_001042357.4:c.1174C>A, NM_001042357.4:c.1174C>T, NM_001042357.3:c.1174C>A, NM_001042357.3:c.1174C>T, NM_001042358.5:c.1147C>A, NM_001042358.5:c.1147C>T, NM_001042358.4:c.1147C>A, NM_001042358.4:c.1147C>T, NM_001042358.3:c.1147C>A, NM_001042358.3:c.1147C>T, NM_001042363.5:c.931C>A, NM_001042363.5:c.931C>T, NM_001042363.4:c.931C>A, NM_001042363.4:c.931C>T, NM_001042363.3:c.931C>A, NM_001042363.3:c.931C>T, NM_001042361.5:c.596C>A, NM_001042361.5:c.596C>T, NM_001042361.4:c.596C>A, NM_001042361.4:c.596C>T, NM_001042361.3:c.596C>A, NM_001042361.3:c.596C>T, NM_001042364.5:c.380C>A, NM_001042364.5:c.380C>T, NM_001042364.4:c.380C>A, NM_001042364.4:c.380C>T, NM_001042364.3:c.380C>A, NM_001042364.3:c.380C>T, XM_011539606.4:c.1174C>A, XM_011539606.4:c.1174C>T, XM_011539606.3:c.1174C>A, XM_011539606.3:c.1174C>T, XM_011539606.2:c.1174C>A, XM_011539606.2:c.1174C>T, XM_011539606.1:c.1174C>A, XM_011539606.1:c.1174C>T, NM_001042359.4:c.721C>A, NM_001042359.4:c.721C>T, NM_001042359.3:c.721C>A, NM_001042359.3:c.721C>T, NM_001042359.2:c.721C>A, NM_001042359.2:c.721C>T, NM_001042360.4:c.598C>A, NM_001042360.4:c.598C>T, NM_001042360.3:c.598C>A, NM_001042360.3:c.598C>T, NM_001042360.2:c.598C>A, NM_001042360.2:c.598C>T, NM_001042362.4:c.353C>A, NM_001042362.4:c.353C>T, NM_001042362.3:c.353C>A, NM_001042362.3:c.353C>T, NM_001042362.2:c.353C>A, NM_001042362.2:c.353C>T, NM_001042365.4:c.137C>A, NM_001042365.4:c.137C>T, NM_001042365.3:c.137C>A, NM_001042365.3:c.137C>T, NM_001042365.2:c.137C>A, NM_001042365.2:c.137C>T, XM_011539607.3:c.1174C>A, XM_011539607.3:c.1174C>T, XM_011539607.2:c.1174C>A, XM_011539607.2:c.1174C>T, XM_011539607.1:c.1174C>A, XM_011539607.1:c.1174C>T, XM_011539605.3:c.1174C>A, XM_011539605.3:c.1174C>T, XM_011539605.2:c.1174C>A, XM_011539605.2:c.1174C>T, XM_011539605.1:c.1174C>A, XM_011539605.1:c.1174C>T, XM_011539610.3:c.931C>A, XM_011539610.3:c.931C>T, XM_011539610.2:c.931C>A, XM_011539610.2:c.931C>T, XM_011539610.1:c.931C>A, XM_011539610.1:c.931C>T, XM_017016045.2:c.1054C>A, XM_017016045.2:c.1054C>T, XM_017016045.1:c.1054C>A, XM_017016045.1:c.1054C>T, NM_001320685.2:c.1090C>A, NM_001320685.2:c.1090C>T, NM_001320685.1:c.1090C>A, NM_001320685.1:c.1090C>T, NM_001352527.2:c.451C>A, NM_001352527.2:c.451C>T, NM_001352527.1:c.451C>A, NM_001352527.1:c.451C>T, NM_001352521.2:c.1090C>A, NM_001352521.2:c.1090C>T, NM_001352521.1:c.1090C>A, NM_001352521.1:c.1090C>T, NM_001320686.2:c.931C>A, NM_001320686.2:c.931C>T, NM_001320686.1:c.931C>A, NM_001320686.1:c.931C>T, NM_001352528.2:c.451C>A, NM_001352528.2:c.451C>T, NM_001352528.1:c.451C>A, NM_001352528.1:c.451C>T, NM_001320681.2:c.931C>A, NM_001320681.2:c.931C>T, NM_001320681.1:c.931C>A, NM_001320681.1:c.931C>T, NM_001320691.2:c.451C>A, NM_001320691.2:c.451C>T, NM_001320691.1:c.451C>A, NM_001320691.1:c.451C>T, NM_001352543.2:c.235C>A, NM_001352543.2:c.235C>T, NM_001352543.1:c.235C>A, NM_001352543.1:c.235C>T, NM_001352525.2:c.451C>A, NM_001352525.2:c.451C>T, NM_001352525.1:c.451C>A, NM_001352525.1:c.451C>T, NM_001352529.2:c.451C>A, NM_001352529.2:c.451C>T, NM_001352529.1:c.451C>A, NM_001352529.1:c.451C>T, NM_001352522.2:c.715C>A, NM_001352522.2:c.715C>T, NM_001352522.1:c.715C>A, NM_001352522.1:c.715C>T, NM_001352552.2:c.130C>A, NM_001352552.2:c.130C>T, NM_001352552.1:c.130C>A, NM_001352552.1:c.130C>T, NM_001320683.2:c.623C>A, NM_001320683.2:c.623C>T, NM_001320683.1:c.623C>A, NM_001320683.1:c.623C>T, NM_001352530.2:c.451C>A, NM_001352530.2:c.451C>T, NM_001352530.1:c.451C>A, NM_001352530.1:c.451C>T, NM_001352553.2:c.130C>A, NM_001352553.2:c.130C>T, NM_001352553.1:c.130C>A, NM_001352553.1:c.130C>T, NM_001320684.2:c.532C>A, NM_001320684.2:c.532C>T, NM_001320684.1:c.532C>A, NM_001320684.1:c.532C>T, NM_001320688.2:c.505C>A, NM_001320688.2:c.505C>T, NM_001320688.1:c.505C>A, NM_001320688.1:c.505C>T, NM_001352523.2:c.539C>A, NM_001352523.2:c.539C>T, NM_001352523.1:c.539C>A, NM_001352523.1:c.539C>T, NM_001352535.2:c.380C>A, NM_001352535.2:c.380C>T, NM_001352535.1:c.380C>A, NM_001352535.1:c.380C>T, NM_001352526.2:c.451C>A, NM_001352526.2:c.451C>T, NM_001352526.1:c.451C>A, NM_001352526.1:c.451C>T, NM_001352534.2:c.448C>A, NM_001352534.2:c.448C>T, NM_001352534.1:c.448C>A, NM_001352534.1:c.448C>T, NM_001352524.2:c.505C>A, NM_001352524.2:c.505C>T, NM_001352524.1:c.505C>A, NM_001352524.1:c.505C>T, NM_001352548.2:c.190C>A, NM_001352548.2:c.190C>T, NM_001352548.1:c.190C>A, NM_001352548.1:c.190C>T, NM_001352533.2:c.380C>A, NM_001352533.2:c.380C>T, NM_001352533.1:c.380C>A, NM_001352533.1:c.380C>T, NM_001352542.2:c.296C>A, NM_001352542.2:c.296C>T, NM_001352542.1:c.296C>A, NM_001352542.1:c.296C>T, NM_001352540.2:c.289C>A, NM_001352540.2:c.289C>T, NM_001352540.1:c.289C>A, NM_001352540.1:c.289C>T, NM_001352531.2:c.380C>A, NM_001352531.2:c.380C>T, NM_001352531.1:c.380C>A, NM_001352531.1:c.380C>T, NM_001352554.2:c.130C>A, NM_001352554.2:c.130C>T, NM_001352554.1:c.130C>A, NM_001352554.1:c.130C>T, NM_001352537.2:c.289C>A, NM_001352537.2:c.289C>T, NM_001352537.1:c.289C>A, NM_001352537.1:c.289C>T, NM_001352539.2:c.289C>A, NM_001352539.2:c.289C>T, NM_001352539.1:c.289C>A, NM_001352539.1:c.289C>T, NM_001320689.2:c.190C>A, NM_001320689.2:c.190C>T, NM_001320689.1:c.190C>A, NM_001320689.1:c.190C>T, NM_001352541.2:c.296C>A, NM_001352541.2:c.296C>T, NM_001352541.1:c.296C>A, NM_001352541.1:c.296C>T, NM_001352538.2:c.289C>A, NM_001352538.2:c.289C>T, NM_001352538.1:c.289C>A, NM_001352538.1:c.289C>T, NM_001352550.2:c.190C>A, NM_001352550.2:c.190C>T, NM_001352550.1:c.190C>A, NM_001352550.1:c.190C>T, NM_001352532.2:c.380C>A, NM_001352532.2:c.380C>T, NM_001352532.1:c.380C>A, NM_001352532.1:c.380C>T, NM_001352544.2:c.235C>A, NM_001352544.2:c.235C>T, NM_001352544.1:c.235C>A, NM_001352544.1:c.235C>T, NM_001352549.2:c.190C>A, NM_001352549.2:c.190C>T, NM_001352549.1:c.190C>A, NM_001352549.1:c.190C>T, NM_001352545.2:c.226C>A, NM_001352545.2:c.226C>T, NM_001352545.1:c.226C>A, NM_001352545.1:c.226C>T, NM_001352547.2:c.190C>A, NM_001352547.2:c.190C>T, NM_001352547.1:c.190C>A, NM_001352547.1:c.190C>T, NM_001352536.2:c.289C>A, NM_001352536.2:c.289C>T, NM_001352536.1:c.289C>A, NM_001352536.1:c.289C>T, NM_001320690.2:c.190C>A, NM_001320690.2:c.190C>T, NM_001320690.1:c.190C>A, NM_001320690.1:c.190C>T, NM_001352555.2:c.137C>A, NM_001352555.2:c.137C>T, NM_001352555.1:c.137C>A, NM_001352555.1:c.137C>T, NM_001320682.2:c.190C>A, NM_001320682.2:c.190C>T, NM_001320682.1:c.190C>A, NM_001320682.1:c.190C>T, NM_001352546.2:c.199C>A, NM_001352546.2:c.199C>T, NM_001352546.1:c.199C>A, NM_001352546.1:c.199C>T, NM_001352551.2:c.160C>A, NM_001352551.2:c.160C>T, NM_001352551.1:c.160C>A, NM_001352551.1:c.160C>T, NR_148022.2:n.114C>A, NR_148022.2:n.114C>T, NR_148022.1:n.146C>A, NR_148022.1:n.146C>T, NR_148024.2:n.161C>A, NR_148024.2:n.161C>T, NR_148024.1:n.161C>A, NR_148024.1:n.161C>T, NR_148023.2:n.114C>A, NR_148023.2:n.114C>T, NR_148023.1:n.146C>A, NR_148023.1:n.146C>T, XM_047425020.1:c.451C>A, XM_047425020.1:c.451C>T, XM_047425003.1:c.1174C>A, XM_047425003.1:c.1174C>T, XM_047425007.1:c.931C>A, XM_047425007.1:c.931C>T, XM_047425025.1:c.380C>A, XM_047425025.1:c.380C>T, XM_047425005.1:c.1090C>A, XM_047425005.1:c.1090C>T, XM_047425006.1:c.958C>A, XM_047425006.1:c.958C>T, XM_047425013.1:c.715C>A, XM_047425013.1:c.715C>T, XM_047425009.1:c.910C>A, XM_047425009.1:c.910C>T, XM_047425004.1:c.1174C>A, XM_047425004.1:c.1174C>T, XM_047425012.1:c.697C>A, XM_047425012.1:c.697C>T, XM_047425022.1:c.451C>A, XM_047425022.1:c.451C>T, XM_047425017.1:c.532C>A, XM_047425017.1:c.532C>T, XM_047425010.1:c.715C>A, XM_047425010.1:c.715C>T, XM_047425015.1:c.532C>A, XM_047425015.1:c.532C>T, XM_047425030.1:c.190C>A, XM_047425030.1:c.190C>T, XM_047425026.1:c.380C>A, XM_047425026.1:c.380C>T, XM_047425018.1:c.505C>A, XM_047425018.1:c.505C>T, XM_047425023.1:c.451C>A, XM_047425023.1:c.451C>T, XM_047425008.1:c.958C>A, XM_047425008.1:c.958C>T, XM_047425024.1:c.448C>A, XM_047425024.1:c.448C>T, XM_047425027.1:c.289C>A, XM_047425027.1:c.289C>T, XM_047425029.1:c.190C>A, XM_047425029.1:c.190C>T, XM_047425033.1:c.137C>A, XM_047425033.1:c.137C>T, XM_047425028.1:c.289C>A, XM_047425028.1:c.289C>T, XM_047425034.1:c.137C>A, XM_047425034.1:c.137C>T, XM_047425031.1:c.137C>A, XM_047425031.1:c.137C>T, NM_001042389.1:c.1174C>A, NM_001042389.1:c.1174C>T, NM_001042395.1:c.931C>A, NM_001042395.1:c.931C>T, NM_001042390.1:c.1147C>A, NM_001042390.1:c.1147C>T, NM_001042387.1:c.623C>A, NM_001042387.1:c.623C>T, NM_001042391.1:c.721C>A, NM_001042391.1:c.721C>T, NM_001042392.1:c.598C>A, NM_001042392.1:c.598C>T, NM_001042393.1:c.596C>A, NM_001042393.1:c.596C>T, NM_001042396.1:c.380C>A, NM_001042396.1:c.380C>T, NM_001042394.1:c.353C>A, NM_001042394.1:c.353C>T, NM_001042397.1:c.137C>A, NM_001042397.1:c.137C>T, NP_056420.3:p.Thr208Lys, NP_056420.3:p.Thr208Met, NP_001035816.1:p.Arg392Ser, NP_001035816.1:p.Arg392Cys, NP_001035817.1:p.Arg383Ser, NP_001035817.1:p.Arg383Cys, NP_001035822.1:p.Arg311Ser, NP_001035822.1:p.Arg311Cys, NP_001035820.1:p.Thr199Lys, NP_001035820.1:p.Thr199Met, NP_001035823.1:p.Thr127Lys, NP_001035823.1:p.Thr127Met, XP_011537908.1:p.Arg392Ser, XP_011537908.1:p.Arg392Cys, NP_001035818.1:p.Arg241Ser, NP_001035818.1:p.Arg241Cys, NP_001035819.1:p.Arg200Ser, NP_001035819.1:p.Arg200Cys, NP_001035821.1:p.Thr118Lys, NP_001035821.1:p.Thr118Met, NP_001035824.1:p.Thr46Lys, NP_001035824.1:p.Thr46Met, XP_011537909.1:p.Arg392Ser, XP_011537909.1:p.Arg392Cys, XP_011537907.1:p.Arg392Ser, XP_011537907.1:p.Arg392Cys, XP_011537912.1:p.Arg311Ser, XP_011537912.1:p.Arg311Cys, XP_016871534.1:p.Arg352Ser, XP_016871534.1:p.Arg352Cys, NP_001307614.1:p.Arg364Ser, NP_001307614.1:p.Arg364Cys, NP_001339456.1:p.Arg151Ser, NP_001339456.1:p.Arg151Cys, NP_001339450.1:p.Arg364Ser, NP_001339450.1:p.Arg364Cys, NP_001307615.1:p.Arg311Ser, NP_001307615.1:p.Arg311Cys, NP_001339457.1:p.Arg151Ser, NP_001339457.1:p.Arg151Cys, NP_001307610.1:p.Arg311Ser, NP_001307610.1:p.Arg311Cys, NP_001307620.1:p.Arg151Ser, NP_001307620.1:p.Arg151Cys, NP_001339472.1:p.Arg79Ser, NP_001339472.1:p.Arg79Cys, NP_001339454.1:p.Arg151Ser, NP_001339454.1:p.Arg151Cys, NP_001339458.1:p.Arg151Ser, NP_001339458.1:p.Arg151Cys, NP_001339451.1:p.Arg239Ser, NP_001339451.1:p.Arg239Cys, NP_001339481.1:p.Arg44Ser, NP_001339481.1:p.Arg44Cys, NP_001307612.1:p.Thr208Lys, NP_001307612.1:p.Thr208Met, NP_001339459.1:p.Arg151Ser, NP_001339459.1:p.Arg151Cys, NP_001339482.1:p.Arg44Ser, NP_001339482.1:p.Arg44Cys, NP_001307613.1:p.Arg178Ser, NP_001307613.1:p.Arg178Cys, NP_001307617.1:p.Arg169Ser, NP_001307617.1:p.Arg169Cys, NP_001339452.1:p.Thr180Lys, NP_001339452.1:p.Thr180Met, NP_001339464.1:p.Thr127Lys, NP_001339464.1:p.Thr127Met, NP_001339455.1:p.Arg151Ser, NP_001339455.1:p.Arg151Cys, NP_001339463.1:p.Arg150Ser, NP_001339463.1:p.Arg150Cys, NP_001339453.1:p.Arg169Ser, NP_001339453.1:p.Arg169Cys, NP_001339477.1:p.Arg64Ser, NP_001339477.1:p.Arg64Cys, NP_001339462.1:p.Thr127Lys, NP_001339462.1:p.Thr127Met, NP_001339471.1:p.Thr99Lys, NP_001339471.1:p.Thr99Met, NP_001339469.1:p.Arg97Ser, NP_001339469.1:p.Arg97Cys, NP_001339460.1:p.Thr127Lys, NP_001339460.1:p.Thr127Met, NP_001339483.1:p.Arg44Ser, NP_001339483.1:p.Arg44Cys, NP_001339466.1:p.Arg97Ser, NP_001339466.1:p.Arg97Cys, NP_001339468.1:p.Arg97Ser, NP_001339468.1:p.Arg97Cys, NP_001307618.1:p.Arg64Ser, NP_001307618.1:p.Arg64Cys, NP_001339470.1:p.Thr99Lys, NP_001339470.1:p.Thr99Met, NP_001339467.1:p.Arg97Ser, NP_001339467.1:p.Arg97Cys, NP_001339479.1:p.Arg64Ser, NP_001339479.1:p.Arg64Cys, NP_001339461.1:p.Thr127Lys, NP_001339461.1:p.Thr127Met, NP_001339473.1:p.Arg79Ser, NP_001339473.1:p.Arg79Cys, NP_001339478.1:p.Arg64Ser, NP_001339478.1:p.Arg64Cys, NP_001339474.1:p.Arg76Ser, NP_001339474.1:p.Arg76Cys, NP_001339476.1:p.Arg64Ser, NP_001339476.1:p.Arg64Cys, NP_001339465.1:p.Arg97Ser, NP_001339465.1:p.Arg97Cys, NP_001307619.1:p.Arg64Ser, NP_001307619.1:p.Arg64Cys, NP_001339484.1:p.Thr46Lys, NP_001339484.1:p.Thr46Met, NP_001307611.1:p.Arg64Ser, NP_001307611.1:p.Arg64Cys, NP_001339475.1:p.Arg67Ser, NP_001339475.1:p.Arg67Cys, NP_001339480.1:p.Arg54Ser, NP_001339480.1:p.Arg54Cys, XP_047280976.1:p.Arg151Ser, XP_047280976.1:p.Arg151Cys, XP_047280959.1:p.Arg392Ser, XP_047280959.1:p.Arg392Cys, XP_047280963.1:p.Arg311Ser, XP_047280963.1:p.Arg311Cys, XP_047280981.1:p.Thr127Lys, XP_047280981.1:p.Thr127Met, XP_047280961.1:p.Arg364Ser, XP_047280961.1:p.Arg364Cys, XP_047280962.1:p.Arg320Ser, XP_047280962.1:p.Arg320Cys, XP_047280969.1:p.Arg239Ser, XP_047280969.1:p.Arg239Cys, XP_047280965.1:p.Arg304Ser, XP_047280965.1:p.Arg304Cys, XP_047280960.1:p.Arg392Ser, XP_047280960.1:p.Arg392Cys, XP_047280968.1:p.Arg233Ser, XP_047280968.1:p.Arg233Cys, XP_047280978.1:p.Arg151Ser, XP_047280978.1:p.Arg151Cys, XP_047280973.1:p.Arg178Ser, XP_047280973.1:p.Arg178Cys, XP_047280966.1:p.Arg239Ser, XP_047280966.1:p.Arg239Cys, XP_047280971.1:p.Arg178Ser, XP_047280971.1:p.Arg178Cys, XP_047280986.1:p.Arg64Ser, XP_047280986.1:p.Arg64Cys, XP_047280982.1:p.Thr127Lys, XP_047280982.1:p.Thr127Met, XP_047280974.1:p.Arg169Ser, XP_047280974.1:p.Arg169Cys, XP_047280979.1:p.Arg151Ser, XP_047280979.1:p.Arg151Cys, XP_047280964.1:p.Arg320Ser, XP_047280964.1:p.Arg320Cys, XP_047280980.1:p.Arg150Ser, XP_047280980.1:p.Arg150Cys, XP_047280983.1:p.Arg97Ser, XP_047280983.1:p.Arg97Cys, XP_047280985.1:p.Arg64Ser, XP_047280985.1:p.Arg64Cys, XP_047280989.1:p.Thr46Lys, XP_047280989.1:p.Thr46Met, XP_047280984.1:p.Arg97Ser, XP_047280984.1:p.Arg97Cys, XP_047280990.1:p.Thr46Lys, XP_047280990.1:p.Thr46Met, XP_047280987.1:p.Thr46Lys, XP_047280987.1:p.Thr46Met

                        12.

                        rs1181715012 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          10:46999955 (GRCh38)
                          10:48739407 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:46999954:C:G,NC_000010.11:46999954:C:T
                          Gene:
                          PTPN20 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000005/1 (GnomAD_exomes)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000010.11:g.46999955C>G, NC_000010.11:g.46999955C>T, NW_003871068.1:g.1271070C>G, NW_003871068.1:g.1271070C>T, NC_000010.10:g.48739407G>C, NC_000010.10:g.48739407G>A, NM_015605.9:c.627C>G, NM_015605.9:c.627C>T, NM_015605.8:c.627C>G, NM_015605.8:c.627C>T, NM_015605.7:c.627C>G, NM_015605.7:c.627C>T, NM_001042357.5:c.1178C>G, NM_001042357.5:c.1178C>T, NM_001042357.4:c.1178C>G, NM_001042357.4:c.1178C>T, NM_001042357.3:c.1178C>G, NM_001042357.3:c.1178C>T, NM_001042358.5:c.1151C>G, NM_001042358.5:c.1151C>T, NM_001042358.4:c.1151C>G, NM_001042358.4:c.1151C>T, NM_001042358.3:c.1151C>G, NM_001042358.3:c.1151C>T, NM_001042363.5:c.935C>G, NM_001042363.5:c.935C>T, NM_001042363.4:c.935C>G, NM_001042363.4:c.935C>T, NM_001042363.3:c.935C>G, NM_001042363.3:c.935C>T, NM_001042361.5:c.600C>G, NM_001042361.5:c.600C>T, NM_001042361.4:c.600C>G, NM_001042361.4:c.600C>T, NM_001042361.3:c.600C>G, NM_001042361.3:c.600C>T, NM_001042364.5:c.384C>G, NM_001042364.5:c.384C>T, NM_001042364.4:c.384C>G, NM_001042364.4:c.384C>T, NM_001042364.3:c.384C>G, NM_001042364.3:c.384C>T, XM_011539606.4:c.1178C>G, XM_011539606.4:c.1178C>T, XM_011539606.3:c.1178C>G, XM_011539606.3:c.1178C>T, XM_011539606.2:c.1178C>G, XM_011539606.2:c.1178C>T, XM_011539606.1:c.1178C>G, XM_011539606.1:c.1178C>T, NM_001042359.4:c.725C>G, NM_001042359.4:c.725C>T, NM_001042359.3:c.725C>G, NM_001042359.3:c.725C>T, NM_001042359.2:c.725C>G, NM_001042359.2:c.725C>T, NM_001042360.4:c.602C>G, NM_001042360.4:c.602C>T, NM_001042360.3:c.602C>G, NM_001042360.3:c.602C>T, NM_001042360.2:c.602C>G, NM_001042360.2:c.602C>T, NM_001042362.4:c.357C>G, NM_001042362.4:c.357C>T, NM_001042362.3:c.357C>G, NM_001042362.3:c.357C>T, NM_001042362.2:c.357C>G, NM_001042362.2:c.357C>T, NM_001042365.4:c.141C>G, NM_001042365.4:c.141C>T, NM_001042365.3:c.141C>G, NM_001042365.3:c.141C>T, NM_001042365.2:c.141C>G, NM_001042365.2:c.141C>T, XM_011539607.3:c.1178C>G, XM_011539607.3:c.1178C>T, XM_011539607.2:c.1178C>G, XM_011539607.2:c.1178C>T, XM_011539607.1:c.1178C>G, XM_011539607.1:c.1178C>T, XM_011539605.3:c.1178C>G, XM_011539605.3:c.1178C>T, XM_011539605.2:c.1178C>G, XM_011539605.2:c.1178C>T, XM_011539605.1:c.1178C>G, XM_011539605.1:c.1178C>T, XM_011539610.3:c.935C>G, XM_011539610.3:c.935C>T, XM_011539610.2:c.935C>G, XM_011539610.2:c.935C>T, XM_011539610.1:c.935C>G, XM_011539610.1:c.935C>T, XM_017016045.2:c.1058C>G, XM_017016045.2:c.1058C>T, XM_017016045.1:c.1058C>G, XM_017016045.1:c.1058C>T, NM_001320685.2:c.1094C>G, NM_001320685.2:c.1094C>T, NM_001320685.1:c.1094C>G, NM_001320685.1:c.1094C>T, NM_001352527.2:c.455C>G, NM_001352527.2:c.455C>T, NM_001352527.1:c.455C>G, NM_001352527.1:c.455C>T, NM_001352521.2:c.1094C>G, NM_001352521.2:c.1094C>T, NM_001352521.1:c.1094C>G, NM_001352521.1:c.1094C>T, NM_001320686.2:c.935C>G, NM_001320686.2:c.935C>T, NM_001320686.1:c.935C>G, NM_001320686.1:c.935C>T, NM_001352528.2:c.455C>G, NM_001352528.2:c.455C>T, NM_001352528.1:c.455C>G, NM_001352528.1:c.455C>T, NM_001320681.2:c.935C>G, NM_001320681.2:c.935C>T, NM_001320681.1:c.935C>G, NM_001320681.1:c.935C>T, NM_001320691.2:c.455C>G, NM_001320691.2:c.455C>T, NM_001320691.1:c.455C>G, NM_001320691.1:c.455C>T, NM_001352543.2:c.239C>G, NM_001352543.2:c.239C>T, NM_001352543.1:c.239C>G, NM_001352543.1:c.239C>T, NM_001352525.2:c.455C>G, NM_001352525.2:c.455C>T, NM_001352525.1:c.455C>G, NM_001352525.1:c.455C>T, NM_001352529.2:c.455C>G, NM_001352529.2:c.455C>T, NM_001352529.1:c.455C>G, NM_001352529.1:c.455C>T, NM_001352522.2:c.719C>G, NM_001352522.2:c.719C>T, NM_001352522.1:c.719C>G, NM_001352522.1:c.719C>T, NM_001352552.2:c.134C>G, NM_001352552.2:c.134C>T, NM_001352552.1:c.134C>G, NM_001352552.1:c.134C>T, NM_001320683.2:c.627C>G, NM_001320683.2:c.627C>T, NM_001320683.1:c.627C>G, NM_001320683.1:c.627C>T, NM_001352530.2:c.455C>G, NM_001352530.2:c.455C>T, NM_001352530.1:c.455C>G, NM_001352530.1:c.455C>T, NM_001352553.2:c.134C>G, NM_001352553.2:c.134C>T, NM_001352553.1:c.134C>G, NM_001352553.1:c.134C>T, NM_001320684.2:c.536C>G, NM_001320684.2:c.536C>T, NM_001320684.1:c.536C>G, NM_001320684.1:c.536C>T, NM_001320688.2:c.509C>G, NM_001320688.2:c.509C>T, NM_001320688.1:c.509C>G, NM_001320688.1:c.509C>T, NM_001352523.2:c.543C>G, NM_001352523.2:c.543C>T, NM_001352523.1:c.543C>G, NM_001352523.1:c.543C>T, NM_001352535.2:c.384C>G, NM_001352535.2:c.384C>T, NM_001352535.1:c.384C>G, NM_001352535.1:c.384C>T, NM_001352526.2:c.455C>G, NM_001352526.2:c.455C>T, NM_001352526.1:c.455C>G, NM_001352526.1:c.455C>T, NM_001352534.2:c.452C>G, NM_001352534.2:c.452C>T, NM_001352534.1:c.452C>G, NM_001352534.1:c.452C>T, NM_001352524.2:c.509C>G, NM_001352524.2:c.509C>T, NM_001352524.1:c.509C>G, NM_001352524.1:c.509C>T, NM_001352548.2:c.194C>G, NM_001352548.2:c.194C>T, NM_001352548.1:c.194C>G, NM_001352548.1:c.194C>T, NM_001352533.2:c.384C>G, NM_001352533.2:c.384C>T, NM_001352533.1:c.384C>G, NM_001352533.1:c.384C>T, NM_001352542.2:c.300C>G, NM_001352542.2:c.300C>T, NM_001352542.1:c.300C>G, NM_001352542.1:c.300C>T, NM_001352540.2:c.293C>G, NM_001352540.2:c.293C>T, NM_001352540.1:c.293C>G, NM_001352540.1:c.293C>T, NM_001352531.2:c.384C>G, NM_001352531.2:c.384C>T, NM_001352531.1:c.384C>G, NM_001352531.1:c.384C>T, NM_001352554.2:c.134C>G, NM_001352554.2:c.134C>T, NM_001352554.1:c.134C>G, NM_001352554.1:c.134C>T, NM_001352537.2:c.293C>G, NM_001352537.2:c.293C>T, NM_001352537.1:c.293C>G, NM_001352537.1:c.293C>T, NM_001352539.2:c.293C>G, NM_001352539.2:c.293C>T, NM_001352539.1:c.293C>G, NM_001352539.1:c.293C>T, NM_001320689.2:c.194C>G, NM_001320689.2:c.194C>T, NM_001320689.1:c.194C>G, NM_001320689.1:c.194C>T, NM_001352541.2:c.300C>G, NM_001352541.2:c.300C>T, NM_001352541.1:c.300C>G, NM_001352541.1:c.300C>T, NM_001352538.2:c.293C>G, NM_001352538.2:c.293C>T, NM_001352538.1:c.293C>G, NM_001352538.1:c.293C>T, NM_001352550.2:c.194C>G, NM_001352550.2:c.194C>T, NM_001352550.1:c.194C>G, NM_001352550.1:c.194C>T, NM_001352532.2:c.384C>G, NM_001352532.2:c.384C>T, NM_001352532.1:c.384C>G, NM_001352532.1:c.384C>T, NM_001352544.2:c.239C>G, NM_001352544.2:c.239C>T, NM_001352544.1:c.239C>G, NM_001352544.1:c.239C>T, NM_001352549.2:c.194C>G, NM_001352549.2:c.194C>T, NM_001352549.1:c.194C>G, NM_001352549.1:c.194C>T, NM_001352545.2:c.230C>G, NM_001352545.2:c.230C>T, NM_001352545.1:c.230C>G, NM_001352545.1:c.230C>T, NM_001352547.2:c.194C>G, NM_001352547.2:c.194C>T, NM_001352547.1:c.194C>G, NM_001352547.1:c.194C>T, NM_001352536.2:c.293C>G, NM_001352536.2:c.293C>T, NM_001352536.1:c.293C>G, NM_001352536.1:c.293C>T, NM_001320690.2:c.194C>G, NM_001320690.2:c.194C>T, NM_001320690.1:c.194C>G, NM_001320690.1:c.194C>T, NM_001352555.2:c.141C>G, NM_001352555.2:c.141C>T, NM_001352555.1:c.141C>G, NM_001352555.1:c.141C>T, NM_001320682.2:c.194C>G, NM_001320682.2:c.194C>T, NM_001320682.1:c.194C>G, NM_001320682.1:c.194C>T, NM_001352546.2:c.203C>G, NM_001352546.2:c.203C>T, NM_001352546.1:c.203C>G, NM_001352546.1:c.203C>T, NM_001352551.2:c.164C>G, NM_001352551.2:c.164C>T, NM_001352551.1:c.164C>G, NM_001352551.1:c.164C>T, NR_148022.2:n.118C>G, NR_148022.2:n.118C>T, NR_148022.1:n.150C>G, NR_148022.1:n.150C>T, NR_148024.2:n.165C>G, NR_148024.2:n.165C>T, NR_148024.1:n.165C>G, NR_148024.1:n.165C>T, NR_148023.2:n.118C>G, NR_148023.2:n.118C>T, NR_148023.1:n.150C>G, NR_148023.1:n.150C>T, XM_047425020.1:c.455C>G, XM_047425020.1:c.455C>T, XM_047425003.1:c.1178C>G, XM_047425003.1:c.1178C>T, XM_047425007.1:c.935C>G, XM_047425007.1:c.935C>T, XM_047425025.1:c.384C>G, XM_047425025.1:c.384C>T, XM_047425005.1:c.1094C>G, XM_047425005.1:c.1094C>T, XM_047425006.1:c.962C>G, XM_047425006.1:c.962C>T, XM_047425013.1:c.719C>G, XM_047425013.1:c.719C>T, XM_047425009.1:c.914C>G, XM_047425009.1:c.914C>T, XM_047425004.1:c.1178C>G, XM_047425004.1:c.1178C>T, XM_047425012.1:c.701C>G, XM_047425012.1:c.701C>T, XM_047425022.1:c.455C>G, XM_047425022.1:c.455C>T, XM_047425017.1:c.536C>G, XM_047425017.1:c.536C>T, XM_047425010.1:c.719C>G, XM_047425010.1:c.719C>T, XM_047425015.1:c.536C>G, XM_047425015.1:c.536C>T, XM_047425030.1:c.194C>G, XM_047425030.1:c.194C>T, XM_047425026.1:c.384C>G, XM_047425026.1:c.384C>T, XM_047425018.1:c.509C>G, XM_047425018.1:c.509C>T, XM_047425023.1:c.455C>G, XM_047425023.1:c.455C>T, XM_047425008.1:c.962C>G, XM_047425008.1:c.962C>T, XM_047425024.1:c.452C>G, XM_047425024.1:c.452C>T, XM_047425027.1:c.293C>G, XM_047425027.1:c.293C>T, XM_047425029.1:c.194C>G, XM_047425029.1:c.194C>T, XM_047425033.1:c.141C>G, XM_047425033.1:c.141C>T, XM_047425028.1:c.293C>G, XM_047425028.1:c.293C>T, XM_047425034.1:c.141C>G, XM_047425034.1:c.141C>T, XM_047425031.1:c.141C>G, XM_047425031.1:c.141C>T, NM_001042389.1:c.1178C>G, NM_001042389.1:c.1178C>T, NM_001042395.1:c.935C>G, NM_001042395.1:c.935C>T, NM_001042390.1:c.1151C>G, NM_001042390.1:c.1151C>T, NM_001042387.1:c.627C>G, NM_001042387.1:c.627C>T, NM_001042391.1:c.725C>G, NM_001042391.1:c.725C>T, NM_001042392.1:c.602C>G, NM_001042392.1:c.602C>T, NM_001042393.1:c.600C>G, NM_001042393.1:c.600C>T, NM_001042396.1:c.384C>G, NM_001042396.1:c.384C>T, NM_001042394.1:c.357C>G, NM_001042394.1:c.357C>T, NM_001042397.1:c.141C>G, NM_001042397.1:c.141C>T, NP_056420.3:p.Phe209Leu, NP_001035816.1:p.Ser393Cys, NP_001035816.1:p.Ser393Phe, NP_001035817.1:p.Ser384Cys, NP_001035817.1:p.Ser384Phe, NP_001035822.1:p.Ser312Cys, NP_001035822.1:p.Ser312Phe, NP_001035820.1:p.Phe200Leu, NP_001035823.1:p.Phe128Leu, XP_011537908.1:p.Ser393Cys, XP_011537908.1:p.Ser393Phe, NP_001035818.1:p.Ser242Cys, NP_001035818.1:p.Ser242Phe, NP_001035819.1:p.Ser201Cys, NP_001035819.1:p.Ser201Phe, NP_001035821.1:p.Phe119Leu, NP_001035824.1:p.Phe47Leu, XP_011537909.1:p.Ser393Cys, XP_011537909.1:p.Ser393Phe, XP_011537907.1:p.Ser393Cys, XP_011537907.1:p.Ser393Phe, XP_011537912.1:p.Ser312Cys, XP_011537912.1:p.Ser312Phe, XP_016871534.1:p.Ser353Cys, XP_016871534.1:p.Ser353Phe, NP_001307614.1:p.Ser365Cys, NP_001307614.1:p.Ser365Phe, NP_001339456.1:p.Ser152Cys, NP_001339456.1:p.Ser152Phe, NP_001339450.1:p.Ser365Cys, NP_001339450.1:p.Ser365Phe, NP_001307615.1:p.Ser312Cys, NP_001307615.1:p.Ser312Phe, NP_001339457.1:p.Ser152Cys, NP_001339457.1:p.Ser152Phe, NP_001307610.1:p.Ser312Cys, NP_001307610.1:p.Ser312Phe, NP_001307620.1:p.Ser152Cys, NP_001307620.1:p.Ser152Phe, NP_001339472.1:p.Ser80Cys, NP_001339472.1:p.Ser80Phe, NP_001339454.1:p.Ser152Cys, NP_001339454.1:p.Ser152Phe, NP_001339458.1:p.Ser152Cys, NP_001339458.1:p.Ser152Phe, NP_001339451.1:p.Ser240Cys, NP_001339451.1:p.Ser240Phe, NP_001339481.1:p.Ser45Cys, NP_001339481.1:p.Ser45Phe, NP_001307612.1:p.Phe209Leu, NP_001339459.1:p.Ser152Cys, NP_001339459.1:p.Ser152Phe, NP_001339482.1:p.Ser45Cys, NP_001339482.1:p.Ser45Phe, NP_001307613.1:p.Ser179Cys, NP_001307613.1:p.Ser179Phe, NP_001307617.1:p.Ser170Cys, NP_001307617.1:p.Ser170Phe, NP_001339452.1:p.Phe181Leu, NP_001339464.1:p.Phe128Leu, NP_001339455.1:p.Ser152Cys, NP_001339455.1:p.Ser152Phe, NP_001339463.1:p.Ser151Cys, NP_001339463.1:p.Ser151Phe, NP_001339453.1:p.Ser170Cys, NP_001339453.1:p.Ser170Phe, NP_001339477.1:p.Ser65Cys, NP_001339477.1:p.Ser65Phe, NP_001339462.1:p.Phe128Leu, NP_001339471.1:p.Phe100Leu, NP_001339469.1:p.Ser98Cys, NP_001339469.1:p.Ser98Phe, NP_001339460.1:p.Phe128Leu, NP_001339483.1:p.Ser45Cys, NP_001339483.1:p.Ser45Phe, NP_001339466.1:p.Ser98Cys, NP_001339466.1:p.Ser98Phe, NP_001339468.1:p.Ser98Cys, NP_001339468.1:p.Ser98Phe, NP_001307618.1:p.Ser65Cys, NP_001307618.1:p.Ser65Phe, NP_001339470.1:p.Phe100Leu, NP_001339467.1:p.Ser98Cys, NP_001339467.1:p.Ser98Phe, NP_001339479.1:p.Ser65Cys, NP_001339479.1:p.Ser65Phe, NP_001339461.1:p.Phe128Leu, NP_001339473.1:p.Ser80Cys, NP_001339473.1:p.Ser80Phe, NP_001339478.1:p.Ser65Cys, NP_001339478.1:p.Ser65Phe, NP_001339474.1:p.Ser77Cys, NP_001339474.1:p.Ser77Phe, NP_001339476.1:p.Ser65Cys, NP_001339476.1:p.Ser65Phe, NP_001339465.1:p.Ser98Cys, NP_001339465.1:p.Ser98Phe, NP_001307619.1:p.Ser65Cys, NP_001307619.1:p.Ser65Phe, NP_001339484.1:p.Phe47Leu, NP_001307611.1:p.Ser65Cys, NP_001307611.1:p.Ser65Phe, NP_001339475.1:p.Ser68Cys, NP_001339475.1:p.Ser68Phe, NP_001339480.1:p.Ser55Cys, NP_001339480.1:p.Ser55Phe, XP_047280976.1:p.Ser152Cys, XP_047280976.1:p.Ser152Phe, XP_047280959.1:p.Ser393Cys, XP_047280959.1:p.Ser393Phe, XP_047280963.1:p.Ser312Cys, XP_047280963.1:p.Ser312Phe, XP_047280981.1:p.Phe128Leu, XP_047280961.1:p.Ser365Cys, XP_047280961.1:p.Ser365Phe, XP_047280962.1:p.Ser321Cys, XP_047280962.1:p.Ser321Phe, XP_047280969.1:p.Ser240Cys, XP_047280969.1:p.Ser240Phe, XP_047280965.1:p.Ser305Cys, XP_047280965.1:p.Ser305Phe, XP_047280960.1:p.Ser393Cys, XP_047280960.1:p.Ser393Phe, XP_047280968.1:p.Ser234Cys, XP_047280968.1:p.Ser234Phe, XP_047280978.1:p.Ser152Cys, XP_047280978.1:p.Ser152Phe, XP_047280973.1:p.Ser179Cys, XP_047280973.1:p.Ser179Phe, XP_047280966.1:p.Ser240Cys, XP_047280966.1:p.Ser240Phe, XP_047280971.1:p.Ser179Cys, XP_047280971.1:p.Ser179Phe, XP_047280986.1:p.Ser65Cys, XP_047280986.1:p.Ser65Phe, XP_047280982.1:p.Phe128Leu, XP_047280974.1:p.Ser170Cys, XP_047280974.1:p.Ser170Phe, XP_047280979.1:p.Ser152Cys, XP_047280979.1:p.Ser152Phe, XP_047280964.1:p.Ser321Cys, XP_047280964.1:p.Ser321Phe, XP_047280980.1:p.Ser151Cys, XP_047280980.1:p.Ser151Phe, XP_047280983.1:p.Ser98Cys, XP_047280983.1:p.Ser98Phe, XP_047280985.1:p.Ser65Cys, XP_047280985.1:p.Ser65Phe, XP_047280989.1:p.Phe47Leu, XP_047280984.1:p.Ser98Cys, XP_047280984.1:p.Ser98Phe, XP_047280990.1:p.Phe47Leu, XP_047280987.1:p.Phe47Leu

                          13.

                          rs1170826887 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            10:46987526 (GRCh38)
                            10:48751835 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:46987526:T:TT
                            Gene:
                            PTPN20 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TT=0.0016/19 (ALFA)
                            HGVS:
                            NC_000010.11:g.46987527dup, NW_003871068.1:g.1258642dup, NC_000010.10:g.48751835dup, NM_001042357.5:c.1106dup, NM_001042357.4:c.1106dup, NM_001042357.3:c.1106dup, NM_001042358.5:c.1079dup, NM_001042358.4:c.1079dup, NM_001042358.3:c.1079dup, NM_001042363.5:c.863dup, NM_001042363.4:c.863dup, NM_001042363.3:c.863dup, XM_011539606.4:c.1106dup, XM_011539606.3:c.1106dup, XM_011539606.2:c.1106dup, XM_011539606.1:c.1106dup, NM_001042359.4:c.653dup, NM_001042359.3:c.653dup, NM_001042359.2:c.653dup, NM_001042360.4:c.530dup, NM_001042360.3:c.530dup, NM_001042360.2:c.530dup, XM_011539607.3:c.1106dup, XM_011539607.2:c.1106dup, XM_011539607.1:c.1106dup, XM_011539605.3:c.1106dup, XM_011539605.2:c.1106dup, XM_011539605.1:c.1106dup, XM_011539610.3:c.863dup, XM_011539610.2:c.863dup, XM_011539610.1:c.863dup, XM_017016045.2:c.986dup, XM_017016045.1:c.986dup, NM_001320685.2:c.1022dup, NM_001320685.1:c.1022dup, NM_001352527.2:c.383dup, NM_001352527.1:c.383dup, NM_001352521.2:c.1022dup, NM_001352521.1:c.1022dup, NM_001320686.2:c.863dup, NM_001320686.1:c.863dup, NM_001352528.2:c.383dup, NM_001352528.1:c.383dup, NM_001320681.2:c.863dup, NM_001320681.1:c.863dup, NM_001320691.2:c.383dup, NM_001320691.1:c.383dup, NM_001352525.2:c.383dup, NM_001352525.1:c.383dup, NM_001352529.2:c.383dup, NM_001352529.1:c.383dup, NM_001352552.2:c.62dup, NM_001352552.1:c.62dup, NM_001352530.2:c.383dup, NM_001352530.1:c.383dup, NM_001352553.2:c.62dup, NM_001352553.1:c.62dup, NM_001320688.2:c.437dup, NM_001320688.1:c.437dup, NM_001352526.2:c.383dup, NM_001352526.1:c.383dup, NM_001352554.2:c.62dup, NM_001352554.1:c.62dup, XM_047425020.1:c.383dup, XM_047425003.1:c.1106dup, XM_047425007.1:c.863dup, XM_047425005.1:c.1022dup, XM_047425009.1:c.842dup, XM_047425004.1:c.1106dup, XM_047425012.1:c.629dup, XM_047425022.1:c.383dup, XM_047425023.1:c.383dup, NM_001042389.1:c.1106dup, NM_001042395.1:c.863dup, NM_001042390.1:c.1079dup, NM_001042391.1:c.653dup, NM_001042392.1:c.530dup, NP_001035816.1:p.Phe370fs, NP_001035817.1:p.Phe361fs, NP_001035822.1:p.Phe289fs, XP_011537908.1:p.Phe370fs, NP_001035818.1:p.Phe219fs, NP_001035819.1:p.Phe178fs, XP_011537909.1:p.Phe370fs, XP_011537907.1:p.Phe370fs, XP_011537912.1:p.Phe289fs, XP_016871534.1:p.Phe330fs, NP_001307614.1:p.Phe342fs, NP_001339456.1:p.Phe129fs, NP_001339450.1:p.Phe342fs, NP_001307615.1:p.Phe289fs, NP_001339457.1:p.Phe129fs, NP_001307610.1:p.Phe289fs, NP_001307620.1:p.Phe129fs, NP_001339454.1:p.Phe129fs, NP_001339458.1:p.Phe129fs, NP_001339481.1:p.Phe22fs, NP_001339459.1:p.Phe129fs, NP_001339482.1:p.Phe22fs, NP_001307617.1:p.Phe147fs, NP_001339455.1:p.Phe129fs, NP_001339483.1:p.Phe22fs, XP_047280976.1:p.Phe129fs, XP_047280959.1:p.Phe370fs, XP_047280963.1:p.Phe289fs, XP_047280961.1:p.Phe342fs, XP_047280965.1:p.Phe282fs, XP_047280960.1:p.Phe370fs, XP_047280968.1:p.Phe211fs, XP_047280978.1:p.Phe129fs, XP_047280979.1:p.Phe129fs

                            14.

                            rs1164720918 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              10:47000681 (GRCh38)
                              10:48738681 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:47000680:G:C
                              Gene:
                              PTPN20 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              C=0.083333/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.47000681G>C, NW_003871068.1:g.1271796G>C, NC_000010.10:g.48738681C>G, NM_015605.9:c.652G>C, NM_015605.8:c.652G>C, NM_015605.7:c.652G>C, NM_001042357.5:c.1203G>C, NM_001042357.4:c.1203G>C, NM_001042357.3:c.1203G>C, NM_001042358.5:c.1176G>C, NM_001042358.4:c.1176G>C, NM_001042358.3:c.1176G>C, NM_001042363.5:c.960G>C, NM_001042363.4:c.960G>C, NM_001042363.3:c.960G>C, NM_001042361.5:c.625G>C, NM_001042361.4:c.625G>C, NM_001042361.3:c.625G>C, NM_001042364.5:c.409G>C, NM_001042364.4:c.409G>C, NM_001042364.3:c.409G>C, XM_011539606.4:c.1203G>C, XM_011539606.3:c.1203G>C, XM_011539606.2:c.1203G>C, XM_011539606.1:c.1203G>C, NM_001042359.4:c.750G>C, NM_001042359.3:c.750G>C, NM_001042359.2:c.750G>C, NM_001042360.4:c.627G>C, NM_001042360.3:c.627G>C, NM_001042360.2:c.627G>C, NM_001042362.4:c.382G>C, NM_001042362.3:c.382G>C, NM_001042362.2:c.382G>C, NM_001042365.4:c.166G>C, NM_001042365.3:c.166G>C, NM_001042365.2:c.166G>C, XM_011539607.3:c.1203G>C, XM_011539607.2:c.1203G>C, XM_011539607.1:c.1203G>C, XM_011539605.3:c.1203G>C, XM_011539605.2:c.1203G>C, XM_011539605.1:c.1203G>C, XM_011539610.3:c.960G>C, XM_011539610.2:c.960G>C, XM_011539610.1:c.960G>C, XM_017016045.2:c.1083G>C, XM_017016045.1:c.1083G>C, NM_001320685.2:c.1119G>C, NM_001320685.1:c.1119G>C, NM_001352527.2:c.480G>C, NM_001352527.1:c.480G>C, NM_001352521.2:c.1119G>C, NM_001352521.1:c.1119G>C, NM_001320686.2:c.960G>C, NM_001320686.1:c.960G>C, NM_001352528.2:c.480G>C, NM_001352528.1:c.480G>C, NM_001320681.2:c.960G>C, NM_001320681.1:c.960G>C, NM_001320691.2:c.480G>C, NM_001320691.1:c.480G>C, NM_001352543.2:c.264G>C, NM_001352543.1:c.264G>C, NM_001352525.2:c.480G>C, NM_001352525.1:c.480G>C, NM_001352529.2:c.480G>C, NM_001352529.1:c.480G>C, NM_001352522.2:c.744G>C, NM_001352522.1:c.744G>C, NM_001352552.2:c.159G>C, NM_001352552.1:c.159G>C, NM_001320683.2:c.652G>C, NM_001320683.1:c.652G>C, NM_001352530.2:c.480G>C, NM_001352530.1:c.480G>C, NM_001352553.2:c.159G>C, NM_001352553.1:c.159G>C, NM_001320684.2:c.561G>C, NM_001320684.1:c.561G>C, NM_001320688.2:c.534G>C, NM_001320688.1:c.534G>C, NM_001352523.2:c.568G>C, NM_001352523.1:c.568G>C, NM_001352535.2:c.*88G>C, NM_001352535.1:c.*88G>C, NM_001352526.2:c.480G>C, NM_001352526.1:c.480G>C, NM_001352534.2:c.477G>C, NM_001352534.1:c.477G>C, NM_001352524.2:c.534G>C, NM_001352524.1:c.534G>C, NM_001352548.2:c.219G>C, NM_001352548.1:c.219G>C, NM_001352533.2:c.409G>C, NM_001352533.1:c.409G>C, NM_001352542.2:c.325G>C, NM_001352542.1:c.325G>C, NM_001352540.2:c.*66G>C, NM_001352540.1:c.*66G>C, NM_001352531.2:c.409G>C, NM_001352531.1:c.409G>C, NM_001352554.2:c.159G>C, NM_001352554.1:c.159G>C, NM_001352537.2:c.318G>C, NM_001352537.1:c.318G>C, NM_001352539.2:c.318G>C, NM_001352539.1:c.318G>C, NM_001320689.2:c.219G>C, NM_001320689.1:c.219G>C, NM_001352541.2:c.325G>C, NM_001352541.1:c.325G>C, NM_001352538.2:c.318G>C, NM_001352538.1:c.318G>C, NM_001352550.2:c.*66G>C, NM_001352550.1:c.*66G>C, NM_001352532.2:c.409G>C, NM_001352532.1:c.409G>C, NM_001352544.2:c.264G>C, NM_001352544.1:c.264G>C, NM_001352549.2:c.*66G>C, NM_001352549.1:c.*66G>C, NM_001352545.2:c.255G>C, NM_001352545.1:c.255G>C, NM_001352547.2:c.219G>C, NM_001352547.1:c.219G>C, NM_001352536.2:c.318G>C, NM_001352536.1:c.318G>C, NM_001320690.2:c.219G>C, NM_001320690.1:c.219G>C, NM_001352555.2:c.*88G>C, NM_001352555.1:c.*88G>C, NM_001320682.2:c.219G>C, NM_001320682.1:c.219G>C, NM_001352546.2:c.228G>C, NM_001352546.1:c.228G>C, NM_001352551.2:c.189G>C, NM_001352551.1:c.189G>C, NR_148022.2:n.245G>C, NR_148022.1:n.277G>C, NR_148024.2:n.190G>C, NR_148024.1:n.190G>C, NR_148023.2:n.143G>C, NR_148023.1:n.175G>C, XM_047425020.1:c.480G>C, XM_047425003.1:c.*66G>C, XM_047425007.1:c.960G>C, XM_047425025.1:c.409G>C, XM_047425005.1:c.1119G>C, XM_047425006.1:c.987G>C, XM_047425013.1:c.*66G>C, XM_047425009.1:c.939G>C, XM_047425012.1:c.726G>C, XM_047425022.1:c.480G>C, XM_047425017.1:c.*66G>C, XM_047425010.1:c.744G>C, XM_047425015.1:c.561G>C, XM_047425030.1:c.*66G>C, XM_047425026.1:c.*88G>C, XM_047425018.1:c.*66G>C, XM_047425023.1:c.480G>C, XM_047425024.1:c.477G>C, XM_047425027.1:c.*66G>C, XM_047425029.1:c.219G>C, XM_047425033.1:c.*88G>C, XM_047425028.1:c.*66G>C, XM_047425034.1:c.*88G>C, XM_047425031.1:c.166G>C, NM_001042389.1:c.1203G>C, NM_001042395.1:c.960G>C, NM_001042390.1:c.1176G>C, NM_001042387.1:c.652G>C, NM_001042391.1:c.750G>C, NM_001042392.1:c.627G>C, NM_001042393.1:c.625G>C, NM_001042396.1:c.409G>C, NM_001042394.1:c.382G>C, NM_001042397.1:c.166G>C, NP_056420.3:p.Val218Leu, NP_001035816.1:p.Gln401His, NP_001035817.1:p.Gln392His, NP_001035822.1:p.Gln320His, NP_001035820.1:p.Val209Leu, NP_001035823.1:p.Val137Leu, XP_011537908.1:p.Gln401His, NP_001035818.1:p.Gln250His, NP_001035819.1:p.Gln209His, NP_001035821.1:p.Val128Leu, NP_001035824.1:p.Val56Leu, XP_011537909.1:p.Gln401His, XP_011537907.1:p.Gln401His, XP_011537912.1:p.Gln320His, XP_016871534.1:p.Gln361His, NP_001307614.1:p.Gln373His, NP_001339456.1:p.Gln160His, NP_001339450.1:p.Gln373His, NP_001307615.1:p.Gln320His, NP_001339457.1:p.Gln160His, NP_001307610.1:p.Gln320His, NP_001307620.1:p.Gln160His, NP_001339472.1:p.Gln88His, NP_001339454.1:p.Gln160His, NP_001339458.1:p.Gln160His, NP_001339451.1:p.Gln248His, NP_001339481.1:p.Gln53His, NP_001307612.1:p.Val218Leu, NP_001339459.1:p.Gln160His, NP_001339482.1:p.Gln53His, NP_001307613.1:p.Gln187His, NP_001307617.1:p.Gln178His, NP_001339452.1:p.Val190Leu, NP_001339455.1:p.Gln160His, NP_001339463.1:p.Gln159His, NP_001339453.1:p.Gln178His, NP_001339477.1:p.Gln73His, NP_001339462.1:p.Val137Leu, NP_001339471.1:p.Val109Leu, NP_001339460.1:p.Val137Leu, NP_001339483.1:p.Gln53His, NP_001339466.1:p.Gln106His, NP_001339468.1:p.Gln106His, NP_001307618.1:p.Gln73His, NP_001339470.1:p.Val109Leu, NP_001339467.1:p.Gln106His, NP_001339461.1:p.Val137Leu, NP_001339473.1:p.Gln88His, NP_001339474.1:p.Gln85His, NP_001339476.1:p.Gln73His, NP_001339465.1:p.Gln106His, NP_001307619.1:p.Gln73His, NP_001307611.1:p.Gln73His, NP_001339475.1:p.Gln76His, NP_001339480.1:p.Gln63His, XP_047280976.1:p.Gln160His, XP_047280963.1:p.Gln320His, XP_047280981.1:p.Val137Leu, XP_047280961.1:p.Gln373His, XP_047280962.1:p.Gln329His, XP_047280965.1:p.Gln313His, XP_047280968.1:p.Gln242His, XP_047280978.1:p.Gln160His, XP_047280966.1:p.Gln248His, XP_047280971.1:p.Gln187His, XP_047280979.1:p.Gln160His, XP_047280980.1:p.Gln159His, XP_047280985.1:p.Gln73His, XP_047280987.1:p.Val56Leu

                              15.

                              rs933689605 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:47000697 (GRCh38)
                                10:48738665 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:47000696:G:A
                                Gene:
                                PTPN20 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                A=0.000156/1 (1000Genomes)
                                HGVS:
                                NC_000010.11:g.47000697G>A, NW_003871068.1:g.1271812G>A, NC_000010.10:g.48738665C>T, NM_015605.9:c.668G>A, NM_015605.8:c.668G>A, NM_015605.7:c.668G>A, NM_001042357.5:c.1219G>A, NM_001042357.4:c.1219G>A, NM_001042357.3:c.1219G>A, NM_001042358.5:c.1192G>A, NM_001042358.4:c.1192G>A, NM_001042358.3:c.1192G>A, NM_001042363.5:c.976G>A, NM_001042363.4:c.976G>A, NM_001042363.3:c.976G>A, NM_001042361.5:c.641G>A, NM_001042361.4:c.641G>A, NM_001042361.3:c.641G>A, NM_001042364.5:c.425G>A, NM_001042364.4:c.425G>A, NM_001042364.3:c.425G>A, XM_011539606.4:c.1219G>A, XM_011539606.3:c.1219G>A, XM_011539606.2:c.1219G>A, XM_011539606.1:c.1219G>A, NM_001042359.4:c.766G>A, NM_001042359.3:c.766G>A, NM_001042359.2:c.766G>A, NM_001042360.4:c.643G>A, NM_001042360.3:c.643G>A, NM_001042360.2:c.643G>A, NM_001042362.4:c.398G>A, NM_001042362.3:c.398G>A, NM_001042362.2:c.398G>A, NM_001042365.4:c.182G>A, NM_001042365.3:c.182G>A, NM_001042365.2:c.182G>A, XM_011539607.3:c.1219G>A, XM_011539607.2:c.1219G>A, XM_011539607.1:c.1219G>A, XM_011539605.3:c.1219G>A, XM_011539605.2:c.1219G>A, XM_011539605.1:c.1219G>A, XM_011539610.3:c.976G>A, XM_011539610.2:c.976G>A, XM_011539610.1:c.976G>A, XM_017016045.2:c.1099G>A, XM_017016045.1:c.1099G>A, NM_001320685.2:c.1135G>A, NM_001320685.1:c.1135G>A, NM_001352527.2:c.496G>A, NM_001352527.1:c.496G>A, NM_001352521.2:c.1135G>A, NM_001352521.1:c.1135G>A, NM_001320686.2:c.976G>A, NM_001320686.1:c.976G>A, NM_001352528.2:c.496G>A, NM_001352528.1:c.496G>A, NM_001320681.2:c.976G>A, NM_001320681.1:c.976G>A, NM_001320691.2:c.496G>A, NM_001320691.1:c.496G>A, NM_001352543.2:c.280G>A, NM_001352543.1:c.280G>A, NM_001352525.2:c.496G>A, NM_001352525.1:c.496G>A, NM_001352529.2:c.496G>A, NM_001352529.1:c.496G>A, NM_001352522.2:c.760G>A, NM_001352522.1:c.760G>A, NM_001352552.2:c.175G>A, NM_001352552.1:c.175G>A, NM_001320683.2:c.668G>A, NM_001320683.1:c.668G>A, NM_001352530.2:c.496G>A, NM_001352530.1:c.496G>A, NM_001352553.2:c.175G>A, NM_001352553.1:c.175G>A, NM_001320684.2:c.577G>A, NM_001320684.1:c.577G>A, NM_001320688.2:c.550G>A, NM_001320688.1:c.550G>A, NM_001352523.2:c.584G>A, NM_001352523.1:c.584G>A, NM_001352535.2:c.*104G>A, NM_001352535.1:c.*104G>A, NM_001352526.2:c.496G>A, NM_001352526.1:c.496G>A, NM_001352534.2:c.493G>A, NM_001352534.1:c.493G>A, NM_001352524.2:c.550G>A, NM_001352524.1:c.550G>A, NM_001352548.2:c.235G>A, NM_001352548.1:c.235G>A, NM_001352533.2:c.425G>A, NM_001352533.1:c.425G>A, NM_001352542.2:c.341G>A, NM_001352542.1:c.341G>A, NM_001352540.2:c.*82G>A, NM_001352540.1:c.*82G>A, NM_001352531.2:c.425G>A, NM_001352531.1:c.425G>A, NM_001352554.2:c.175G>A, NM_001352554.1:c.175G>A, NM_001352537.2:c.334G>A, NM_001352537.1:c.334G>A, NM_001352539.2:c.334G>A, NM_001352539.1:c.334G>A, NM_001320689.2:c.235G>A, NM_001320689.1:c.235G>A, NM_001352541.2:c.341G>A, NM_001352541.1:c.341G>A, NM_001352538.2:c.334G>A, NM_001352538.1:c.334G>A, NM_001352550.2:c.*82G>A, NM_001352550.1:c.*82G>A, NM_001352532.2:c.425G>A, NM_001352532.1:c.425G>A, NM_001352544.2:c.280G>A, NM_001352544.1:c.280G>A, NM_001352549.2:c.*82G>A, NM_001352549.1:c.*82G>A, NM_001352545.2:c.271G>A, NM_001352545.1:c.271G>A, NM_001352547.2:c.235G>A, NM_001352547.1:c.235G>A, NM_001352536.2:c.334G>A, NM_001352536.1:c.334G>A, NM_001320690.2:c.235G>A, NM_001320690.1:c.235G>A, NM_001352555.2:c.*104G>A, NM_001352555.1:c.*104G>A, NM_001320682.2:c.235G>A, NM_001320682.1:c.235G>A, NM_001352546.2:c.244G>A, NM_001352546.1:c.244G>A, NM_001352551.2:c.205G>A, NM_001352551.1:c.205G>A, NR_148022.2:n.261G>A, NR_148022.1:n.293G>A, NR_148024.2:n.206G>A, NR_148024.1:n.206G>A, NR_148023.2:n.159G>A, NR_148023.1:n.191G>A, XM_047425020.1:c.496G>A, XM_047425003.1:c.*82G>A, XM_047425007.1:c.976G>A, XM_047425025.1:c.425G>A, XM_047425005.1:c.1135G>A, XM_047425006.1:c.1003G>A, XM_047425013.1:c.*82G>A, XM_047425009.1:c.955G>A, XM_047425012.1:c.742G>A, XM_047425022.1:c.496G>A, XM_047425017.1:c.*82G>A, XM_047425010.1:c.760G>A, XM_047425015.1:c.577G>A, XM_047425030.1:c.*82G>A, XM_047425026.1:c.*104G>A, XM_047425018.1:c.*82G>A, XM_047425023.1:c.496G>A, XM_047425024.1:c.493G>A, XM_047425027.1:c.*82G>A, XM_047425029.1:c.235G>A, XM_047425033.1:c.*104G>A, XM_047425028.1:c.*82G>A, XM_047425034.1:c.*104G>A, XM_047425031.1:c.182G>A, NM_001042389.1:c.1219G>A, NM_001042395.1:c.976G>A, NM_001042390.1:c.1192G>A, NM_001042387.1:c.668G>A, NM_001042391.1:c.766G>A, NM_001042392.1:c.643G>A, NM_001042393.1:c.641G>A, NM_001042396.1:c.425G>A, NM_001042394.1:c.398G>A, NM_001042397.1:c.182G>A, NP_056420.3:p.Arg223Gln, NP_001035816.1:p.Asp407Asn, NP_001035817.1:p.Asp398Asn, NP_001035822.1:p.Asp326Asn, NP_001035820.1:p.Arg214Gln, NP_001035823.1:p.Arg142Gln, XP_011537908.1:p.Asp407Asn, NP_001035818.1:p.Asp256Asn, NP_001035819.1:p.Asp215Asn, NP_001035821.1:p.Arg133Gln, NP_001035824.1:p.Arg61Gln, XP_011537909.1:p.Asp407Asn, XP_011537907.1:p.Asp407Asn, XP_011537912.1:p.Asp326Asn, XP_016871534.1:p.Asp367Asn, NP_001307614.1:p.Asp379Asn, NP_001339456.1:p.Asp166Asn, NP_001339450.1:p.Asp379Asn, NP_001307615.1:p.Asp326Asn, NP_001339457.1:p.Asp166Asn, NP_001307610.1:p.Asp326Asn, NP_001307620.1:p.Asp166Asn, NP_001339472.1:p.Asp94Asn, NP_001339454.1:p.Asp166Asn, NP_001339458.1:p.Asp166Asn, NP_001339451.1:p.Asp254Asn, NP_001339481.1:p.Asp59Asn, NP_001307612.1:p.Arg223Gln, NP_001339459.1:p.Asp166Asn, NP_001339482.1:p.Asp59Asn, NP_001307613.1:p.Asp193Asn, NP_001307617.1:p.Asp184Asn, NP_001339452.1:p.Arg195Gln, NP_001339455.1:p.Asp166Asn, NP_001339463.1:p.Asp165Asn, NP_001339453.1:p.Asp184Asn, NP_001339477.1:p.Asp79Asn, NP_001339462.1:p.Arg142Gln, NP_001339471.1:p.Arg114Gln, NP_001339460.1:p.Arg142Gln, NP_001339483.1:p.Asp59Asn, NP_001339466.1:p.Asp112Asn, NP_001339468.1:p.Asp112Asn, NP_001307618.1:p.Asp79Asn, NP_001339470.1:p.Arg114Gln, NP_001339467.1:p.Asp112Asn, NP_001339461.1:p.Arg142Gln, NP_001339473.1:p.Asp94Asn, NP_001339474.1:p.Asp91Asn, NP_001339476.1:p.Asp79Asn, NP_001339465.1:p.Asp112Asn, NP_001307619.1:p.Asp79Asn, NP_001307611.1:p.Asp79Asn, NP_001339475.1:p.Asp82Asn, NP_001339480.1:p.Asp69Asn, XP_047280976.1:p.Asp166Asn, XP_047280963.1:p.Asp326Asn, XP_047280981.1:p.Arg142Gln, XP_047280961.1:p.Asp379Asn, XP_047280962.1:p.Asp335Asn, XP_047280965.1:p.Asp319Asn, XP_047280968.1:p.Asp248Asn, XP_047280978.1:p.Asp166Asn, XP_047280966.1:p.Asp254Asn, XP_047280971.1:p.Asp193Asn, XP_047280979.1:p.Asp166Asn, XP_047280980.1:p.Asp165Asn, XP_047280985.1:p.Asp79Asn, XP_047280987.1:p.Arg61Gln

                                16.

                                rs900829441 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:47000696 (GRCh38)
                                  10:48738666 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:47000695:C:T
                                  Gene:
                                  PTPN20 (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.002135/30 (ALFA)
                                  A=0.00016/1 (TOMMO)
                                  T=0.003076/431 (GnomAD)
                                  T=0.003393/898 (TOPMED)
                                  T=0.003592/23 (1000Genomes)
                                  HGVS:
                                  NC_000010.11:g.47000696C>T, NW_003871068.1:g.1271811C>T, NC_000010.10:g.48738666G>A, NM_015605.9:c.667C>T, NM_015605.8:c.667C>T, NM_015605.7:c.667C>T, NM_001042357.5:c.1218C>T, NM_001042357.4:c.1218C>T, NM_001042357.3:c.1218C>T, NM_001042358.5:c.1191C>T, NM_001042358.4:c.1191C>T, NM_001042358.3:c.1191C>T, NM_001042363.5:c.975C>T, NM_001042363.4:c.975C>T, NM_001042363.3:c.975C>T, NM_001042361.5:c.640C>T, NM_001042361.4:c.640C>T, NM_001042361.3:c.640C>T, NM_001042364.5:c.424C>T, NM_001042364.4:c.424C>T, NM_001042364.3:c.424C>T, XM_011539606.4:c.1218C>T, XM_011539606.3:c.1218C>T, XM_011539606.2:c.1218C>T, XM_011539606.1:c.1218C>T, NM_001042359.4:c.765C>T, NM_001042359.3:c.765C>T, NM_001042359.2:c.765C>T, NM_001042360.4:c.642C>T, NM_001042360.3:c.642C>T, NM_001042360.2:c.642C>T, NM_001042362.4:c.397C>T, NM_001042362.3:c.397C>T, NM_001042362.2:c.397C>T, NM_001042365.4:c.181C>T, NM_001042365.3:c.181C>T, NM_001042365.2:c.181C>T, XM_011539607.3:c.1218C>T, XM_011539607.2:c.1218C>T, XM_011539607.1:c.1218C>T, XM_011539605.3:c.1218C>T, XM_011539605.2:c.1218C>T, XM_011539605.1:c.1218C>T, XM_011539610.3:c.975C>T, XM_011539610.2:c.975C>T, XM_011539610.1:c.975C>T, XM_017016045.2:c.1098C>T, XM_017016045.1:c.1098C>T, NM_001320685.2:c.1134C>T, NM_001320685.1:c.1134C>T, NM_001352527.2:c.495C>T, NM_001352527.1:c.495C>T, NM_001352521.2:c.1134C>T, NM_001352521.1:c.1134C>T, NM_001320686.2:c.975C>T, NM_001320686.1:c.975C>T, NM_001352528.2:c.495C>T, NM_001352528.1:c.495C>T, NM_001320681.2:c.975C>T, NM_001320681.1:c.975C>T, NM_001320691.2:c.495C>T, NM_001320691.1:c.495C>T, NM_001352543.2:c.279C>T, NM_001352543.1:c.279C>T, NM_001352525.2:c.495C>T, NM_001352525.1:c.495C>T, NM_001352529.2:c.495C>T, NM_001352529.1:c.495C>T, NM_001352522.2:c.759C>T, NM_001352522.1:c.759C>T, NM_001352552.2:c.174C>T, NM_001352552.1:c.174C>T, NM_001320683.2:c.667C>T, NM_001320683.1:c.667C>T, NM_001352530.2:c.495C>T, NM_001352530.1:c.495C>T, NM_001352553.2:c.174C>T, NM_001352553.1:c.174C>T, NM_001320684.2:c.576C>T, NM_001320684.1:c.576C>T, NM_001320688.2:c.549C>T, NM_001320688.1:c.549C>T, NM_001352523.2:c.583C>T, NM_001352523.1:c.583C>T, NM_001352535.2:c.*103C>T, NM_001352535.1:c.*103C>T, NM_001352526.2:c.495C>T, NM_001352526.1:c.495C>T, NM_001352534.2:c.492C>T, NM_001352534.1:c.492C>T, NM_001352524.2:c.549C>T, NM_001352524.1:c.549C>T, NM_001352548.2:c.234C>T, NM_001352548.1:c.234C>T, NM_001352533.2:c.424C>T, NM_001352533.1:c.424C>T, NM_001352542.2:c.340C>T, NM_001352542.1:c.340C>T, NM_001352540.2:c.*81C>T, NM_001352540.1:c.*81C>T, NM_001352531.2:c.424C>T, NM_001352531.1:c.424C>T, NM_001352554.2:c.174C>T, NM_001352554.1:c.174C>T, NM_001352537.2:c.333C>T, NM_001352537.1:c.333C>T, NM_001352539.2:c.333C>T, NM_001352539.1:c.333C>T, NM_001320689.2:c.234C>T, NM_001320689.1:c.234C>T, NM_001352541.2:c.340C>T, NM_001352541.1:c.340C>T, NM_001352538.2:c.333C>T, NM_001352538.1:c.333C>T, NM_001352550.2:c.*81C>T, NM_001352550.1:c.*81C>T, NM_001352532.2:c.424C>T, NM_001352532.1:c.424C>T, NM_001352544.2:c.279C>T, NM_001352544.1:c.279C>T, NM_001352549.2:c.*81C>T, NM_001352549.1:c.*81C>T, NM_001352545.2:c.270C>T, NM_001352545.1:c.270C>T, NM_001352547.2:c.234C>T, NM_001352547.1:c.234C>T, NM_001352536.2:c.333C>T, NM_001352536.1:c.333C>T, NM_001320690.2:c.234C>T, NM_001320690.1:c.234C>T, NM_001352555.2:c.*103C>T, NM_001352555.1:c.*103C>T, NM_001320682.2:c.234C>T, NM_001320682.1:c.234C>T, NM_001352546.2:c.243C>T, NM_001352546.1:c.243C>T, NM_001352551.2:c.204C>T, NM_001352551.1:c.204C>T, NR_148022.2:n.260C>T, NR_148022.1:n.292C>T, NR_148024.2:n.205C>T, NR_148024.1:n.205C>T, NR_148023.2:n.158C>T, NR_148023.1:n.190C>T, XM_047425020.1:c.495C>T, XM_047425003.1:c.*81C>T, XM_047425007.1:c.975C>T, XM_047425025.1:c.424C>T, XM_047425005.1:c.1134C>T, XM_047425006.1:c.1002C>T, XM_047425013.1:c.*81C>T, XM_047425009.1:c.954C>T, XM_047425012.1:c.741C>T, XM_047425022.1:c.495C>T, XM_047425017.1:c.*81C>T, XM_047425010.1:c.759C>T, XM_047425015.1:c.576C>T, XM_047425030.1:c.*81C>T, XM_047425026.1:c.*103C>T, XM_047425018.1:c.*81C>T, XM_047425023.1:c.495C>T, XM_047425024.1:c.492C>T, XM_047425027.1:c.*81C>T, XM_047425029.1:c.234C>T, XM_047425033.1:c.*103C>T, XM_047425028.1:c.*81C>T, XM_047425034.1:c.*103C>T, XM_047425031.1:c.181C>T, NM_001042389.1:c.1218C>T, NM_001042395.1:c.975C>T, NM_001042390.1:c.1191C>T, NM_001042387.1:c.667C>T, NM_001042391.1:c.765C>T, NM_001042392.1:c.642C>T, NM_001042393.1:c.640C>T, NM_001042396.1:c.424C>T, NM_001042394.1:c.397C>T, NM_001042397.1:c.181C>T, NP_056420.3:p.Arg223Ter, NP_001035820.1:p.Arg214Ter, NP_001035823.1:p.Arg142Ter, NP_001035821.1:p.Arg133Ter, NP_001035824.1:p.Arg61Ter, NP_001307612.1:p.Arg223Ter, NP_001339452.1:p.Arg195Ter, NP_001339462.1:p.Arg142Ter, NP_001339471.1:p.Arg114Ter, NP_001339460.1:p.Arg142Ter, NP_001339470.1:p.Arg114Ter, NP_001339461.1:p.Arg142Ter, XP_047280981.1:p.Arg142Ter, XP_047280987.1:p.Arg61Ter

                                  17.

                                  rs782754933 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:46999944 (GRCh38)
                                    10:48739418 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:46999943:A:G
                                    Gene:
                                    PTPN20 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000009/2 (GnomAD_exomes)
                                    C=0.00001/1 (ExAC)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.46999944A>G, NW_003871068.1:g.1271059A>G, NC_000010.10:g.48739418T>C, NM_015605.9:c.616A>G, NM_015605.8:c.616A>G, NM_015605.7:c.616A>G, NM_001042357.5:c.1167A>G, NM_001042357.4:c.1167A>G, NM_001042357.3:c.1167A>G, NM_001042358.5:c.1140A>G, NM_001042358.4:c.1140A>G, NM_001042358.3:c.1140A>G, NM_001042363.5:c.924A>G, NM_001042363.4:c.924A>G, NM_001042363.3:c.924A>G, NM_001042361.5:c.589A>G, NM_001042361.4:c.589A>G, NM_001042361.3:c.589A>G, NM_001042364.5:c.373A>G, NM_001042364.4:c.373A>G, NM_001042364.3:c.373A>G, XM_011539606.4:c.1167A>G, XM_011539606.3:c.1167A>G, XM_011539606.2:c.1167A>G, XM_011539606.1:c.1167A>G, NM_001042359.4:c.714A>G, NM_001042359.3:c.714A>G, NM_001042359.2:c.714A>G, NM_001042360.4:c.591A>G, NM_001042360.3:c.591A>G, NM_001042360.2:c.591A>G, NM_001042362.4:c.346A>G, NM_001042362.3:c.346A>G, NM_001042362.2:c.346A>G, NM_001042365.4:c.130A>G, NM_001042365.3:c.130A>G, NM_001042365.2:c.130A>G, XM_011539607.3:c.1167A>G, XM_011539607.2:c.1167A>G, XM_011539607.1:c.1167A>G, XM_011539605.3:c.1167A>G, XM_011539605.2:c.1167A>G, XM_011539605.1:c.1167A>G, XM_011539610.3:c.924A>G, XM_011539610.2:c.924A>G, XM_011539610.1:c.924A>G, XM_017016045.2:c.1047A>G, XM_017016045.1:c.1047A>G, NM_001320685.2:c.1083A>G, NM_001320685.1:c.1083A>G, NM_001352527.2:c.444A>G, NM_001352527.1:c.444A>G, NM_001352521.2:c.1083A>G, NM_001352521.1:c.1083A>G, NM_001320686.2:c.924A>G, NM_001320686.1:c.924A>G, NM_001352528.2:c.444A>G, NM_001352528.1:c.444A>G, NM_001320681.2:c.924A>G, NM_001320681.1:c.924A>G, NM_001320691.2:c.444A>G, NM_001320691.1:c.444A>G, NM_001352543.2:c.228A>G, NM_001352543.1:c.228A>G, NM_001352525.2:c.444A>G, NM_001352525.1:c.444A>G, NM_001352529.2:c.444A>G, NM_001352529.1:c.444A>G, NM_001352522.2:c.708A>G, NM_001352522.1:c.708A>G, NM_001352552.2:c.123A>G, NM_001352552.1:c.123A>G, NM_001320683.2:c.616A>G, NM_001320683.1:c.616A>G, NM_001352530.2:c.444A>G, NM_001352530.1:c.444A>G, NM_001352553.2:c.123A>G, NM_001352553.1:c.123A>G, NM_001320684.2:c.525A>G, NM_001320684.1:c.525A>G, NM_001320688.2:c.498A>G, NM_001320688.1:c.498A>G, NM_001352523.2:c.532A>G, NM_001352523.1:c.532A>G, NM_001352535.2:c.373A>G, NM_001352535.1:c.373A>G, NM_001352526.2:c.444A>G, NM_001352526.1:c.444A>G, NM_001352534.2:c.441A>G, NM_001352534.1:c.441A>G, NM_001352524.2:c.498A>G, NM_001352524.1:c.498A>G, NM_001352548.2:c.183A>G, NM_001352548.1:c.183A>G, NM_001352533.2:c.373A>G, NM_001352533.1:c.373A>G, NM_001352542.2:c.289A>G, NM_001352542.1:c.289A>G, NM_001352540.2:c.282A>G, NM_001352540.1:c.282A>G, NM_001352531.2:c.373A>G, NM_001352531.1:c.373A>G, NM_001352554.2:c.123A>G, NM_001352554.1:c.123A>G, NM_001352537.2:c.282A>G, NM_001352537.1:c.282A>G, NM_001352539.2:c.282A>G, NM_001352539.1:c.282A>G, NM_001320689.2:c.183A>G, NM_001320689.1:c.183A>G, NM_001352541.2:c.289A>G, NM_001352541.1:c.289A>G, NM_001352538.2:c.282A>G, NM_001352538.1:c.282A>G, NM_001352550.2:c.183A>G, NM_001352550.1:c.183A>G, NM_001352532.2:c.373A>G, NM_001352532.1:c.373A>G, NM_001352544.2:c.228A>G, NM_001352544.1:c.228A>G, NM_001352549.2:c.183A>G, NM_001352549.1:c.183A>G, NM_001352545.2:c.219A>G, NM_001352545.1:c.219A>G, NM_001352547.2:c.183A>G, NM_001352547.1:c.183A>G, NM_001352536.2:c.282A>G, NM_001352536.1:c.282A>G, NM_001320690.2:c.183A>G, NM_001320690.1:c.183A>G, NM_001352555.2:c.130A>G, NM_001352555.1:c.130A>G, NM_001320682.2:c.183A>G, NM_001320682.1:c.183A>G, NM_001352546.2:c.192A>G, NM_001352546.1:c.192A>G, NM_001352551.2:c.153A>G, NM_001352551.1:c.153A>G, NR_148022.2:n.107A>G, NR_148022.1:n.139A>G, NR_148024.2:n.154A>G, NR_148024.1:n.154A>G, NR_148023.2:n.107A>G, NR_148023.1:n.139A>G, XM_047425020.1:c.444A>G, XM_047425003.1:c.1167A>G, XM_047425007.1:c.924A>G, XM_047425025.1:c.373A>G, XM_047425005.1:c.1083A>G, XM_047425006.1:c.951A>G, XM_047425013.1:c.708A>G, XM_047425009.1:c.903A>G, XM_047425004.1:c.1167A>G, XM_047425012.1:c.690A>G, XM_047425022.1:c.444A>G, XM_047425017.1:c.525A>G, XM_047425010.1:c.708A>G, XM_047425015.1:c.525A>G, XM_047425030.1:c.183A>G, XM_047425026.1:c.373A>G, XM_047425018.1:c.498A>G, XM_047425023.1:c.444A>G, XM_047425008.1:c.951A>G, XM_047425024.1:c.441A>G, XM_047425027.1:c.282A>G, XM_047425029.1:c.183A>G, XM_047425033.1:c.130A>G, XM_047425028.1:c.282A>G, XM_047425034.1:c.130A>G, XM_047425031.1:c.130A>G, NM_001042389.1:c.1167A>G, NM_001042395.1:c.924A>G, NM_001042390.1:c.1140A>G, NM_001042387.1:c.616A>G, NM_001042391.1:c.714A>G, NM_001042392.1:c.591A>G, NM_001042393.1:c.589A>G, NM_001042396.1:c.373A>G, NM_001042394.1:c.346A>G, NM_001042397.1:c.130A>G, NP_056420.3:p.Arg206Gly, NP_001035820.1:p.Arg197Gly, NP_001035823.1:p.Arg125Gly, NP_001035821.1:p.Arg116Gly, NP_001035824.1:p.Arg44Gly, NP_001307612.1:p.Arg206Gly, NP_001339452.1:p.Arg178Gly, NP_001339464.1:p.Arg125Gly, NP_001339462.1:p.Arg125Gly, NP_001339471.1:p.Arg97Gly, NP_001339460.1:p.Arg125Gly, NP_001339470.1:p.Arg97Gly, NP_001339461.1:p.Arg125Gly, NP_001339484.1:p.Arg44Gly, XP_047280981.1:p.Arg125Gly, XP_047280982.1:p.Arg125Gly, XP_047280989.1:p.Arg44Gly, XP_047280990.1:p.Arg44Gly, XP_047280987.1:p.Arg44Gly

                                    18.

                                    rs782345496 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      10:46999973 (GRCh38)
                                      10:48739389 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:46999972:A:C
                                      Gene:
                                      PTPN20 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000009/1 (ExAC)
                                      HGVS:
                                      NC_000010.11:g.46999973A>C, NW_003871068.1:g.1271088A>C, NC_000010.10:g.48739389T>G, NM_015605.9:c.645A>C, NM_015605.8:c.645A>C, NM_015605.7:c.645A>C, NM_001042357.5:c.1196A>C, NM_001042357.4:c.1196A>C, NM_001042357.3:c.1196A>C, NM_001042358.5:c.1169A>C, NM_001042358.4:c.1169A>C, NM_001042358.3:c.1169A>C, NM_001042363.5:c.953A>C, NM_001042363.4:c.953A>C, NM_001042363.3:c.953A>C, NM_001042361.5:c.618A>C, NM_001042361.4:c.618A>C, NM_001042361.3:c.618A>C, NM_001042364.5:c.402A>C, NM_001042364.4:c.402A>C, NM_001042364.3:c.402A>C, XM_011539606.4:c.1196A>C, XM_011539606.3:c.1196A>C, XM_011539606.2:c.1196A>C, XM_011539606.1:c.1196A>C, NM_001042359.4:c.743A>C, NM_001042359.3:c.743A>C, NM_001042359.2:c.743A>C, NM_001042360.4:c.620A>C, NM_001042360.3:c.620A>C, NM_001042360.2:c.620A>C, NM_001042362.4:c.375A>C, NM_001042362.3:c.375A>C, NM_001042362.2:c.375A>C, NM_001042365.4:c.159A>C, NM_001042365.3:c.159A>C, NM_001042365.2:c.159A>C, XM_011539607.3:c.1196A>C, XM_011539607.2:c.1196A>C, XM_011539607.1:c.1196A>C, XM_011539605.3:c.1196A>C, XM_011539605.2:c.1196A>C, XM_011539605.1:c.1196A>C, XM_011539610.3:c.953A>C, XM_011539610.2:c.953A>C, XM_011539610.1:c.953A>C, XM_017016045.2:c.1076A>C, XM_017016045.1:c.1076A>C, NM_001320685.2:c.1112A>C, NM_001320685.1:c.1112A>C, NM_001352527.2:c.473A>C, NM_001352527.1:c.473A>C, NM_001352521.2:c.1112A>C, NM_001352521.1:c.1112A>C, NM_001320686.2:c.953A>C, NM_001320686.1:c.953A>C, NM_001352528.2:c.473A>C, NM_001352528.1:c.473A>C, NM_001320681.2:c.953A>C, NM_001320681.1:c.953A>C, NM_001320691.2:c.473A>C, NM_001320691.1:c.473A>C, NM_001352543.2:c.257A>C, NM_001352543.1:c.257A>C, NM_001352525.2:c.473A>C, NM_001352525.1:c.473A>C, NM_001352529.2:c.473A>C, NM_001352529.1:c.473A>C, NM_001352522.2:c.737A>C, NM_001352522.1:c.737A>C, NM_001352552.2:c.152A>C, NM_001352552.1:c.152A>C, NM_001320683.2:c.645A>C, NM_001320683.1:c.645A>C, NM_001352530.2:c.473A>C, NM_001352530.1:c.473A>C, NM_001352553.2:c.152A>C, NM_001352553.1:c.152A>C, NM_001320684.2:c.554A>C, NM_001320684.1:c.554A>C, NM_001320688.2:c.527A>C, NM_001320688.1:c.527A>C, NM_001352523.2:c.561A>C, NM_001352523.1:c.561A>C, NM_001352535.2:c.402A>C, NM_001352535.1:c.402A>C, NM_001352526.2:c.473A>C, NM_001352526.1:c.473A>C, NM_001352534.2:c.470A>C, NM_001352534.1:c.470A>C, NM_001352524.2:c.527A>C, NM_001352524.1:c.527A>C, NM_001352548.2:c.212A>C, NM_001352548.1:c.212A>C, NM_001352533.2:c.402A>C, NM_001352533.1:c.402A>C, NM_001352542.2:c.318A>C, NM_001352542.1:c.318A>C, NM_001352540.2:c.311A>C, NM_001352540.1:c.311A>C, NM_001352531.2:c.402A>C, NM_001352531.1:c.402A>C, NM_001352554.2:c.152A>C, NM_001352554.1:c.152A>C, NM_001352537.2:c.311A>C, NM_001352537.1:c.311A>C, NM_001352539.2:c.311A>C, NM_001352539.1:c.311A>C, NM_001320689.2:c.212A>C, NM_001320689.1:c.212A>C, NM_001352541.2:c.318A>C, NM_001352541.1:c.318A>C, NM_001352538.2:c.311A>C, NM_001352538.1:c.311A>C, NM_001352550.2:c.212A>C, NM_001352550.1:c.212A>C, NM_001352532.2:c.402A>C, NM_001352532.1:c.402A>C, NM_001352544.2:c.257A>C, NM_001352544.1:c.257A>C, NM_001352549.2:c.212A>C, NM_001352549.1:c.212A>C, NM_001352545.2:c.248A>C, NM_001352545.1:c.248A>C, NM_001352547.2:c.212A>C, NM_001352547.1:c.212A>C, NM_001352536.2:c.311A>C, NM_001352536.1:c.311A>C, NM_001320690.2:c.212A>C, NM_001320690.1:c.212A>C, NM_001352555.2:c.159A>C, NM_001352555.1:c.159A>C, NM_001320682.2:c.212A>C, NM_001320682.1:c.212A>C, NM_001352546.2:c.221A>C, NM_001352546.1:c.221A>C, NM_001352551.2:c.182A>C, NM_001352551.1:c.182A>C, NR_148022.2:n.136A>C, NR_148022.1:n.168A>C, NR_148024.2:n.183A>C, NR_148024.1:n.183A>C, NR_148023.2:n.136A>C, NR_148023.1:n.168A>C, XM_047425020.1:c.473A>C, XM_047425003.1:c.1196A>C, XM_047425007.1:c.953A>C, XM_047425025.1:c.402A>C, XM_047425005.1:c.1112A>C, XM_047425006.1:c.980A>C, XM_047425013.1:c.737A>C, XM_047425009.1:c.932A>C, XM_047425004.1:c.1196A>C, XM_047425012.1:c.719A>C, XM_047425022.1:c.473A>C, XM_047425017.1:c.554A>C, XM_047425010.1:c.737A>C, XM_047425015.1:c.554A>C, XM_047425030.1:c.212A>C, XM_047425026.1:c.402A>C, XM_047425018.1:c.527A>C, XM_047425023.1:c.473A>C, XM_047425008.1:c.980A>C, XM_047425024.1:c.470A>C, XM_047425027.1:c.311A>C, XM_047425029.1:c.212A>C, XM_047425033.1:c.159A>C, XM_047425028.1:c.311A>C, XM_047425034.1:c.159A>C, XM_047425031.1:c.159A>C, NM_001042389.1:c.1196A>C, NM_001042395.1:c.953A>C, NM_001042390.1:c.1169A>C, NM_001042387.1:c.645A>C, NM_001042391.1:c.743A>C, NM_001042392.1:c.620A>C, NM_001042393.1:c.618A>C, NM_001042396.1:c.402A>C, NM_001042394.1:c.375A>C, NM_001042397.1:c.159A>C, NP_056420.3:p.Glu215Asp, NP_001035816.1:p.Lys399Thr, NP_001035817.1:p.Lys390Thr, NP_001035822.1:p.Lys318Thr, NP_001035820.1:p.Glu206Asp, NP_001035823.1:p.Glu134Asp, XP_011537908.1:p.Lys399Thr, NP_001035818.1:p.Lys248Thr, NP_001035819.1:p.Lys207Thr, NP_001035821.1:p.Glu125Asp, NP_001035824.1:p.Glu53Asp, XP_011537909.1:p.Lys399Thr, XP_011537907.1:p.Lys399Thr, XP_011537912.1:p.Lys318Thr, XP_016871534.1:p.Lys359Thr, NP_001307614.1:p.Lys371Thr, NP_001339456.1:p.Lys158Thr, NP_001339450.1:p.Lys371Thr, NP_001307615.1:p.Lys318Thr, NP_001339457.1:p.Lys158Thr, NP_001307610.1:p.Lys318Thr, NP_001307620.1:p.Lys158Thr, NP_001339472.1:p.Lys86Thr, NP_001339454.1:p.Lys158Thr, NP_001339458.1:p.Lys158Thr, NP_001339451.1:p.Lys246Thr, NP_001339481.1:p.Lys51Thr, NP_001307612.1:p.Glu215Asp, NP_001339459.1:p.Lys158Thr, NP_001339482.1:p.Lys51Thr, NP_001307613.1:p.Lys185Thr, NP_001307617.1:p.Lys176Thr, NP_001339452.1:p.Glu187Asp, NP_001339464.1:p.Glu134Asp, NP_001339455.1:p.Lys158Thr, NP_001339463.1:p.Lys157Thr, NP_001339453.1:p.Lys176Thr, NP_001339477.1:p.Lys71Thr, NP_001339462.1:p.Glu134Asp, NP_001339471.1:p.Glu106Asp, NP_001339469.1:p.Lys104Thr, NP_001339460.1:p.Glu134Asp, NP_001339483.1:p.Lys51Thr, NP_001339466.1:p.Lys104Thr, NP_001339468.1:p.Lys104Thr, NP_001307618.1:p.Lys71Thr, NP_001339470.1:p.Glu106Asp, NP_001339467.1:p.Lys104Thr, NP_001339479.1:p.Lys71Thr, NP_001339461.1:p.Glu134Asp, NP_001339473.1:p.Lys86Thr, NP_001339478.1:p.Lys71Thr, NP_001339474.1:p.Lys83Thr, NP_001339476.1:p.Lys71Thr, NP_001339465.1:p.Lys104Thr, NP_001307619.1:p.Lys71Thr, NP_001339484.1:p.Glu53Asp, NP_001307611.1:p.Lys71Thr, NP_001339475.1:p.Lys74Thr, NP_001339480.1:p.Lys61Thr, XP_047280976.1:p.Lys158Thr, XP_047280959.1:p.Lys399Thr, XP_047280963.1:p.Lys318Thr, XP_047280981.1:p.Glu134Asp, XP_047280961.1:p.Lys371Thr, XP_047280962.1:p.Lys327Thr, XP_047280969.1:p.Lys246Thr, XP_047280965.1:p.Lys311Thr, XP_047280960.1:p.Lys399Thr, XP_047280968.1:p.Lys240Thr, XP_047280978.1:p.Lys158Thr, XP_047280973.1:p.Lys185Thr, XP_047280966.1:p.Lys246Thr, XP_047280971.1:p.Lys185Thr, XP_047280986.1:p.Lys71Thr, XP_047280982.1:p.Glu134Asp, XP_047280974.1:p.Lys176Thr, XP_047280979.1:p.Lys158Thr, XP_047280964.1:p.Lys327Thr, XP_047280980.1:p.Lys157Thr, XP_047280983.1:p.Lys104Thr, XP_047280985.1:p.Lys71Thr, XP_047280989.1:p.Glu53Asp, XP_047280984.1:p.Lys104Thr, XP_047280990.1:p.Glu53Asp, XP_047280987.1:p.Glu53Asp

                                      19.

                                      rs782166075 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:46999970 (GRCh38)
                                        10:48739392 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:46999969:C:T
                                        Gene:
                                        PTPN20 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000015/4 (TOPMED)
                                        A=0.000019/2 (ExAC)
                                        A=0.000024/5 (GnomAD_exomes)
                                        T=0.000177/3 (TOMMO)
                                        HGVS:
                                        NC_000010.11:g.46999970C>T, NW_003871068.1:g.1271085C>T, NC_000010.10:g.48739392G>A, NM_015605.9:c.642C>T, NM_015605.8:c.642C>T, NM_015605.7:c.642C>T, NM_001042357.5:c.1193C>T, NM_001042357.4:c.1193C>T, NM_001042357.3:c.1193C>T, NM_001042358.5:c.1166C>T, NM_001042358.4:c.1166C>T, NM_001042358.3:c.1166C>T, NM_001042363.5:c.950C>T, NM_001042363.4:c.950C>T, NM_001042363.3:c.950C>T, NM_001042361.5:c.615C>T, NM_001042361.4:c.615C>T, NM_001042361.3:c.615C>T, NM_001042364.5:c.399C>T, NM_001042364.4:c.399C>T, NM_001042364.3:c.399C>T, XM_011539606.4:c.1193C>T, XM_011539606.3:c.1193C>T, XM_011539606.2:c.1193C>T, XM_011539606.1:c.1193C>T, NM_001042359.4:c.740C>T, NM_001042359.3:c.740C>T, NM_001042359.2:c.740C>T, NM_001042360.4:c.617C>T, NM_001042360.3:c.617C>T, NM_001042360.2:c.617C>T, NM_001042362.4:c.372C>T, NM_001042362.3:c.372C>T, NM_001042362.2:c.372C>T, NM_001042365.4:c.156C>T, NM_001042365.3:c.156C>T, NM_001042365.2:c.156C>T, XM_011539607.3:c.1193C>T, XM_011539607.2:c.1193C>T, XM_011539607.1:c.1193C>T, XM_011539605.3:c.1193C>T, XM_011539605.2:c.1193C>T, XM_011539605.1:c.1193C>T, XM_011539610.3:c.950C>T, XM_011539610.2:c.950C>T, XM_011539610.1:c.950C>T, XM_017016045.2:c.1073C>T, XM_017016045.1:c.1073C>T, NM_001320685.2:c.1109C>T, NM_001320685.1:c.1109C>T, NM_001352527.2:c.470C>T, NM_001352527.1:c.470C>T, NM_001352521.2:c.1109C>T, NM_001352521.1:c.1109C>T, NM_001320686.2:c.950C>T, NM_001320686.1:c.950C>T, NM_001352528.2:c.470C>T, NM_001352528.1:c.470C>T, NM_001320681.2:c.950C>T, NM_001320681.1:c.950C>T, NM_001320691.2:c.470C>T, NM_001320691.1:c.470C>T, NM_001352543.2:c.254C>T, NM_001352543.1:c.254C>T, NM_001352525.2:c.470C>T, NM_001352525.1:c.470C>T, NM_001352529.2:c.470C>T, NM_001352529.1:c.470C>T, NM_001352522.2:c.734C>T, NM_001352522.1:c.734C>T, NM_001352552.2:c.149C>T, NM_001352552.1:c.149C>T, NM_001320683.2:c.642C>T, NM_001320683.1:c.642C>T, NM_001352530.2:c.470C>T, NM_001352530.1:c.470C>T, NM_001352553.2:c.149C>T, NM_001352553.1:c.149C>T, NM_001320684.2:c.551C>T, NM_001320684.1:c.551C>T, NM_001320688.2:c.524C>T, NM_001320688.1:c.524C>T, NM_001352523.2:c.558C>T, NM_001352523.1:c.558C>T, NM_001352535.2:c.399C>T, NM_001352535.1:c.399C>T, NM_001352526.2:c.470C>T, NM_001352526.1:c.470C>T, NM_001352534.2:c.467C>T, NM_001352534.1:c.467C>T, NM_001352524.2:c.524C>T, NM_001352524.1:c.524C>T, NM_001352548.2:c.209C>T, NM_001352548.1:c.209C>T, NM_001352533.2:c.399C>T, NM_001352533.1:c.399C>T, NM_001352542.2:c.315C>T, NM_001352542.1:c.315C>T, NM_001352540.2:c.308C>T, NM_001352540.1:c.308C>T, NM_001352531.2:c.399C>T, NM_001352531.1:c.399C>T, NM_001352554.2:c.149C>T, NM_001352554.1:c.149C>T, NM_001352537.2:c.308C>T, NM_001352537.1:c.308C>T, NM_001352539.2:c.308C>T, NM_001352539.1:c.308C>T, NM_001320689.2:c.209C>T, NM_001320689.1:c.209C>T, NM_001352541.2:c.315C>T, NM_001352541.1:c.315C>T, NM_001352538.2:c.308C>T, NM_001352538.1:c.308C>T, NM_001352550.2:c.209C>T, NM_001352550.1:c.209C>T, NM_001352532.2:c.399C>T, NM_001352532.1:c.399C>T, NM_001352544.2:c.254C>T, NM_001352544.1:c.254C>T, NM_001352549.2:c.209C>T, NM_001352549.1:c.209C>T, NM_001352545.2:c.245C>T, NM_001352545.1:c.245C>T, NM_001352547.2:c.209C>T, NM_001352547.1:c.209C>T, NM_001352536.2:c.308C>T, NM_001352536.1:c.308C>T, NM_001320690.2:c.209C>T, NM_001320690.1:c.209C>T, NM_001352555.2:c.156C>T, NM_001352555.1:c.156C>T, NM_001320682.2:c.209C>T, NM_001320682.1:c.209C>T, NM_001352546.2:c.218C>T, NM_001352546.1:c.218C>T, NM_001352551.2:c.179C>T, NM_001352551.1:c.179C>T, NR_148022.2:n.133C>T, NR_148022.1:n.165C>T, NR_148024.2:n.180C>T, NR_148024.1:n.180C>T, NR_148023.2:n.133C>T, NR_148023.1:n.165C>T, XM_047425020.1:c.470C>T, XM_047425003.1:c.1193C>T, XM_047425007.1:c.950C>T, XM_047425025.1:c.399C>T, XM_047425005.1:c.1109C>T, XM_047425006.1:c.977C>T, XM_047425013.1:c.734C>T, XM_047425009.1:c.929C>T, XM_047425004.1:c.1193C>T, XM_047425012.1:c.716C>T, XM_047425022.1:c.470C>T, XM_047425017.1:c.551C>T, XM_047425010.1:c.734C>T, XM_047425015.1:c.551C>T, XM_047425030.1:c.209C>T, XM_047425026.1:c.399C>T, XM_047425018.1:c.524C>T, XM_047425023.1:c.470C>T, XM_047425008.1:c.977C>T, XM_047425024.1:c.467C>T, XM_047425027.1:c.308C>T, XM_047425029.1:c.209C>T, XM_047425033.1:c.156C>T, XM_047425028.1:c.308C>T, XM_047425034.1:c.156C>T, XM_047425031.1:c.156C>T, NM_001042389.1:c.1193C>T, NM_001042395.1:c.950C>T, NM_001042390.1:c.1166C>T, NM_001042387.1:c.642C>T, NM_001042391.1:c.740C>T, NM_001042392.1:c.617C>T, NM_001042393.1:c.615C>T, NM_001042396.1:c.399C>T, NM_001042394.1:c.372C>T, NM_001042397.1:c.156C>T, NP_001035816.1:p.Thr398Met, NP_001035817.1:p.Thr389Met, NP_001035822.1:p.Thr317Met, XP_011537908.1:p.Thr398Met, NP_001035818.1:p.Thr247Met, NP_001035819.1:p.Thr206Met, XP_011537909.1:p.Thr398Met, XP_011537907.1:p.Thr398Met, XP_011537912.1:p.Thr317Met, XP_016871534.1:p.Thr358Met, NP_001307614.1:p.Thr370Met, NP_001339456.1:p.Thr157Met, NP_001339450.1:p.Thr370Met, NP_001307615.1:p.Thr317Met, NP_001339457.1:p.Thr157Met, NP_001307610.1:p.Thr317Met, NP_001307620.1:p.Thr157Met, NP_001339472.1:p.Thr85Met, NP_001339454.1:p.Thr157Met, NP_001339458.1:p.Thr157Met, NP_001339451.1:p.Thr245Met, NP_001339481.1:p.Thr50Met, NP_001339459.1:p.Thr157Met, NP_001339482.1:p.Thr50Met, NP_001307613.1:p.Thr184Met, NP_001307617.1:p.Thr175Met, NP_001339455.1:p.Thr157Met, NP_001339463.1:p.Thr156Met, NP_001339453.1:p.Thr175Met, NP_001339477.1:p.Thr70Met, NP_001339469.1:p.Thr103Met, NP_001339483.1:p.Thr50Met, NP_001339466.1:p.Thr103Met, NP_001339468.1:p.Thr103Met, NP_001307618.1:p.Thr70Met, NP_001339467.1:p.Thr103Met, NP_001339479.1:p.Thr70Met, NP_001339473.1:p.Thr85Met, NP_001339478.1:p.Thr70Met, NP_001339474.1:p.Thr82Met, NP_001339476.1:p.Thr70Met, NP_001339465.1:p.Thr103Met, NP_001307619.1:p.Thr70Met, NP_001307611.1:p.Thr70Met, NP_001339475.1:p.Thr73Met, NP_001339480.1:p.Thr60Met, XP_047280976.1:p.Thr157Met, XP_047280959.1:p.Thr398Met, XP_047280963.1:p.Thr317Met, XP_047280961.1:p.Thr370Met, XP_047280962.1:p.Thr326Met, XP_047280969.1:p.Thr245Met, XP_047280965.1:p.Thr310Met, XP_047280960.1:p.Thr398Met, XP_047280968.1:p.Thr239Met, XP_047280978.1:p.Thr157Met, XP_047280973.1:p.Thr184Met, XP_047280966.1:p.Thr245Met, XP_047280971.1:p.Thr184Met, XP_047280986.1:p.Thr70Met, XP_047280974.1:p.Thr175Met, XP_047280979.1:p.Thr157Met, XP_047280964.1:p.Thr326Met, XP_047280980.1:p.Thr156Met, XP_047280983.1:p.Thr103Met, XP_047280985.1:p.Thr70Met, XP_047280984.1:p.Thr103Met

                                        20.

                                        rs782106749 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          10:46999949 (GRCh38)
                                          10:48739413 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:46999948:A:C
                                          Gene:
                                          PTPN20 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000005/1 (GnomAD_exomes)
                                          G=0.00001/1 (ExAC)
                                          HGVS:
                                          NC_000010.11:g.46999949A>C, NW_003871068.1:g.1271064A>C, NC_000010.10:g.48739413T>G, NM_015605.9:c.621A>C, NM_015605.8:c.621A>C, NM_015605.7:c.621A>C, NM_001042357.5:c.1172A>C, NM_001042357.4:c.1172A>C, NM_001042357.3:c.1172A>C, NM_001042358.5:c.1145A>C, NM_001042358.4:c.1145A>C, NM_001042358.3:c.1145A>C, NM_001042363.5:c.929A>C, NM_001042363.4:c.929A>C, NM_001042363.3:c.929A>C, NM_001042361.5:c.594A>C, NM_001042361.4:c.594A>C, NM_001042361.3:c.594A>C, NM_001042364.5:c.378A>C, NM_001042364.4:c.378A>C, NM_001042364.3:c.378A>C, XM_011539606.4:c.1172A>C, XM_011539606.3:c.1172A>C, XM_011539606.2:c.1172A>C, XM_011539606.1:c.1172A>C, NM_001042359.4:c.719A>C, NM_001042359.3:c.719A>C, NM_001042359.2:c.719A>C, NM_001042360.4:c.596A>C, NM_001042360.3:c.596A>C, NM_001042360.2:c.596A>C, NM_001042362.4:c.351A>C, NM_001042362.3:c.351A>C, NM_001042362.2:c.351A>C, NM_001042365.4:c.135A>C, NM_001042365.3:c.135A>C, NM_001042365.2:c.135A>C, XM_011539607.3:c.1172A>C, XM_011539607.2:c.1172A>C, XM_011539607.1:c.1172A>C, XM_011539605.3:c.1172A>C, XM_011539605.2:c.1172A>C, XM_011539605.1:c.1172A>C, XM_011539610.3:c.929A>C, XM_011539610.2:c.929A>C, XM_011539610.1:c.929A>C, XM_017016045.2:c.1052A>C, XM_017016045.1:c.1052A>C, NM_001320685.2:c.1088A>C, NM_001320685.1:c.1088A>C, NM_001352527.2:c.449A>C, NM_001352527.1:c.449A>C, NM_001352521.2:c.1088A>C, NM_001352521.1:c.1088A>C, NM_001320686.2:c.929A>C, NM_001320686.1:c.929A>C, NM_001352528.2:c.449A>C, NM_001352528.1:c.449A>C, NM_001320681.2:c.929A>C, NM_001320681.1:c.929A>C, NM_001320691.2:c.449A>C, NM_001320691.1:c.449A>C, NM_001352543.2:c.233A>C, NM_001352543.1:c.233A>C, NM_001352525.2:c.449A>C, NM_001352525.1:c.449A>C, NM_001352529.2:c.449A>C, NM_001352529.1:c.449A>C, NM_001352522.2:c.713A>C, NM_001352522.1:c.713A>C, NM_001352552.2:c.128A>C, NM_001352552.1:c.128A>C, NM_001320683.2:c.621A>C, NM_001320683.1:c.621A>C, NM_001352530.2:c.449A>C, NM_001352530.1:c.449A>C, NM_001352553.2:c.128A>C, NM_001352553.1:c.128A>C, NM_001320684.2:c.530A>C, NM_001320684.1:c.530A>C, NM_001320688.2:c.503A>C, NM_001320688.1:c.503A>C, NM_001352523.2:c.537A>C, NM_001352523.1:c.537A>C, NM_001352535.2:c.378A>C, NM_001352535.1:c.378A>C, NM_001352526.2:c.449A>C, NM_001352526.1:c.449A>C, NM_001352534.2:c.446A>C, NM_001352534.1:c.446A>C, NM_001352524.2:c.503A>C, NM_001352524.1:c.503A>C, NM_001352548.2:c.188A>C, NM_001352548.1:c.188A>C, NM_001352533.2:c.378A>C, NM_001352533.1:c.378A>C, NM_001352542.2:c.294A>C, NM_001352542.1:c.294A>C, NM_001352540.2:c.287A>C, NM_001352540.1:c.287A>C, NM_001352531.2:c.378A>C, NM_001352531.1:c.378A>C, NM_001352554.2:c.128A>C, NM_001352554.1:c.128A>C, NM_001352537.2:c.287A>C, NM_001352537.1:c.287A>C, NM_001352539.2:c.287A>C, NM_001352539.1:c.287A>C, NM_001320689.2:c.188A>C, NM_001320689.1:c.188A>C, NM_001352541.2:c.294A>C, NM_001352541.1:c.294A>C, NM_001352538.2:c.287A>C, NM_001352538.1:c.287A>C, NM_001352550.2:c.188A>C, NM_001352550.1:c.188A>C, NM_001352532.2:c.378A>C, NM_001352532.1:c.378A>C, NM_001352544.2:c.233A>C, NM_001352544.1:c.233A>C, NM_001352549.2:c.188A>C, NM_001352549.1:c.188A>C, NM_001352545.2:c.224A>C, NM_001352545.1:c.224A>C, NM_001352547.2:c.188A>C, NM_001352547.1:c.188A>C, NM_001352536.2:c.287A>C, NM_001352536.1:c.287A>C, NM_001320690.2:c.188A>C, NM_001320690.1:c.188A>C, NM_001352555.2:c.135A>C, NM_001352555.1:c.135A>C, NM_001320682.2:c.188A>C, NM_001320682.1:c.188A>C, NM_001352546.2:c.197A>C, NM_001352546.1:c.197A>C, NM_001352551.2:c.158A>C, NM_001352551.1:c.158A>C, NR_148022.2:n.112A>C, NR_148022.1:n.144A>C, NR_148024.2:n.159A>C, NR_148024.1:n.159A>C, NR_148023.2:n.112A>C, NR_148023.1:n.144A>C, XM_047425020.1:c.449A>C, XM_047425003.1:c.1172A>C, XM_047425007.1:c.929A>C, XM_047425025.1:c.378A>C, XM_047425005.1:c.1088A>C, XM_047425006.1:c.956A>C, XM_047425013.1:c.713A>C, XM_047425009.1:c.908A>C, XM_047425004.1:c.1172A>C, XM_047425012.1:c.695A>C, XM_047425022.1:c.449A>C, XM_047425017.1:c.530A>C, XM_047425010.1:c.713A>C, XM_047425015.1:c.530A>C, XM_047425030.1:c.188A>C, XM_047425026.1:c.378A>C, XM_047425018.1:c.503A>C, XM_047425023.1:c.449A>C, XM_047425008.1:c.956A>C, XM_047425024.1:c.446A>C, XM_047425027.1:c.287A>C, XM_047425029.1:c.188A>C, XM_047425033.1:c.135A>C, XM_047425028.1:c.287A>C, XM_047425034.1:c.135A>C, XM_047425031.1:c.135A>C, NM_001042389.1:c.1172A>C, NM_001042395.1:c.929A>C, NM_001042390.1:c.1145A>C, NM_001042387.1:c.621A>C, NM_001042391.1:c.719A>C, NM_001042392.1:c.596A>C, NM_001042393.1:c.594A>C, NM_001042396.1:c.378A>C, NM_001042394.1:c.351A>C, NM_001042397.1:c.135A>C, NP_001035816.1:p.Gln391Pro, NP_001035817.1:p.Gln382Pro, NP_001035822.1:p.Gln310Pro, XP_011537908.1:p.Gln391Pro, NP_001035818.1:p.Gln240Pro, NP_001035819.1:p.Gln199Pro, XP_011537909.1:p.Gln391Pro, XP_011537907.1:p.Gln391Pro, XP_011537912.1:p.Gln310Pro, XP_016871534.1:p.Gln351Pro, NP_001307614.1:p.Gln363Pro, NP_001339456.1:p.Gln150Pro, NP_001339450.1:p.Gln363Pro, NP_001307615.1:p.Gln310Pro, NP_001339457.1:p.Gln150Pro, NP_001307610.1:p.Gln310Pro, NP_001307620.1:p.Gln150Pro, NP_001339472.1:p.Gln78Pro, NP_001339454.1:p.Gln150Pro, NP_001339458.1:p.Gln150Pro, NP_001339451.1:p.Gln238Pro, NP_001339481.1:p.Gln43Pro, NP_001339459.1:p.Gln150Pro, NP_001339482.1:p.Gln43Pro, NP_001307613.1:p.Gln177Pro, NP_001307617.1:p.Gln168Pro, NP_001339455.1:p.Gln150Pro, NP_001339463.1:p.Gln149Pro, NP_001339453.1:p.Gln168Pro, NP_001339477.1:p.Gln63Pro, NP_001339469.1:p.Gln96Pro, NP_001339483.1:p.Gln43Pro, NP_001339466.1:p.Gln96Pro, NP_001339468.1:p.Gln96Pro, NP_001307618.1:p.Gln63Pro, NP_001339467.1:p.Gln96Pro, NP_001339479.1:p.Gln63Pro, NP_001339473.1:p.Gln78Pro, NP_001339478.1:p.Gln63Pro, NP_001339474.1:p.Gln75Pro, NP_001339476.1:p.Gln63Pro, NP_001339465.1:p.Gln96Pro, NP_001307619.1:p.Gln63Pro, NP_001307611.1:p.Gln63Pro, NP_001339475.1:p.Gln66Pro, NP_001339480.1:p.Gln53Pro, XP_047280976.1:p.Gln150Pro, XP_047280959.1:p.Gln391Pro, XP_047280963.1:p.Gln310Pro, XP_047280961.1:p.Gln363Pro, XP_047280962.1:p.Gln319Pro, XP_047280969.1:p.Gln238Pro, XP_047280965.1:p.Gln303Pro, XP_047280960.1:p.Gln391Pro, XP_047280968.1:p.Gln232Pro, XP_047280978.1:p.Gln150Pro, XP_047280973.1:p.Gln177Pro, XP_047280966.1:p.Gln238Pro, XP_047280971.1:p.Gln177Pro, XP_047280986.1:p.Gln63Pro, XP_047280974.1:p.Gln168Pro, XP_047280979.1:p.Gln150Pro, XP_047280964.1:p.Gln319Pro, XP_047280980.1:p.Gln149Pro, XP_047280983.1:p.Gln96Pro, XP_047280985.1:p.Gln63Pro, XP_047280984.1:p.Gln96Pro

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