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Items: 1 to 20 of 725

1.

rs1489675368 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    11:83469232 (GRCh38)
    11:83180275 (GRCh37)
    Canonical SPDI:
    NC_000011.10:83469231:C:A
    Gene:
    DLG2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.83469232C>A, NC_000011.9:g.83180275C>A, NG_021375.2:g.2164304G>T, NM_001142699.3:c.2588G>T, NM_001142699.2:c.2588G>T, NM_001142699.1:c.2588G>T, NM_001364.3:c.2273G>T, NM_001351275.2:c.2567G>T, NM_001351275.1:c.2567G>T, NM_001351274.2:c.2570G>T, NM_001351274.1:c.2570G>T, NM_001351276.2:c.2276G>T, NM_001351276.1:c.2276G>T, NM_001206769.2:c.2390G>T, NM_001206769.1:c.2390G>T, NM_001142700.2:c.1910G>T, NM_001142700.1:c.1910G>T, NM_001142702.2:c.665G>T, NM_001142702.1:c.665G>T, NM_001377968.1:c.2261G>T, NM_001377966.1:c.2390G>T, NM_001377967.1:c.2336G>T, NM_001300983.1:c.2219G>T, NM_001377973.1:c.2093G>T, NM_001377970.1:c.2234G>T, NM_001377971.1:c.2180G>T, NM_001377972.1:c.2120G>T, NR_165353.1:n.2048G>T, NM_001377974.1:c.1964G>T, NM_001377976.1:c.752G>T, NM_001377978.1:c.719G>T, NM_001377979.1:c.707G>T, NM_001377980.1:c.665G>T, NM_001377981.1:c.614G>T, NM_001377977.1:c.746G>T, NM_001377982.1:c.488G>T, XM_005273810.5:c.2174G>T, XM_005273810.4:c.2174G>T, XM_005273810.3:c.2174G>T, XM_005273810.2:c.2174G>T, XM_005273810.1:c.2174G>T, XM_017017257.3:c.2738G>T, XM_017017257.2:c.2738G>T, XM_017017257.1:c.2738G>T, XM_017017256.3:c.2741G>T, XM_017017256.2:c.2741G>T, XM_017017256.1:c.2741G>T, XM_017017255.3:c.2741G>T, XM_017017255.2:c.2741G>T, XM_017017255.1:c.2741G>T, XM_017017264.3:c.2375G>T, XM_017017264.2:c.2375G>T, XM_017017264.1:c.2375G>T, XM_017017265.3:c.2372G>T, XM_017017265.2:c.2372G>T, XM_017017265.1:c.2372G>T, XM_017017271.3:c.2279G>T, XM_017017271.2:c.2279G>T, XM_017017271.1:c.2279G>T, XM_011544782.3:c.2336G>T, XM_011544782.2:c.2336G>T, XM_011544782.1:c.2336G>T, XM_017017281.3:c.2123G>T, XM_017017281.2:c.2123G>T, XM_017017281.1:c.2123G>T, XM_017017273.3:c.2276G>T, XM_017017273.2:c.2276G>T, XM_017017273.1:c.2276G>T, XM_017017280.3:c.2123G>T, XM_017017280.2:c.2123G>T, XM_017017280.1:c.2123G>T, XM_017017263.2:c.2378G>T, XM_017017263.1:c.2378G>T, XM_017017258.2:c.2618G>T, XM_017017258.1:c.2618G>T, XM_017017269.2:c.2303G>T, XM_017017269.1:c.2303G>T, XM_017017262.2:c.2432G>T, XM_017017262.1:c.2432G>T, XM_017017270.2:c.2282G>T, XM_017017270.1:c.2282G>T, XM_017017267.2:c.2315G>T, XM_017017267.1:c.2315G>T, XM_017017268.2:c.2312G>T, XM_017017268.1:c.2312G>T, XM_017017276.2:c.2207G>T, XM_017017276.1:c.2207G>T, XM_017017277.2:c.2189G>T, XM_017017277.1:c.2189G>T, XM_017017279.2:c.2126G>T, XM_017017279.1:c.2126G>T, XM_017017285.2:c.2051G>T, XM_017017285.1:c.2051G>T, XM_017017284.2:c.2066G>T, XM_017017284.1:c.2066G>T, XM_017017287.2:c.917G>T, XM_017017287.1:c.917G>T, XM_017017290.2:c.761G>T, XM_017017290.1:c.761G>T, XM_017017289.2:c.842G>T, XM_017017289.1:c.842G>T, XM_047426495.1:c.2738G>T, XM_047426496.1:c.2684G>T, XM_047426498.1:c.2528G>T, XM_047426494.1:c.2780G>T, XM_047426497.1:c.2666G>T, XM_047426500.1:c.2333G>T, XM_047426499.1:c.2510G>T, XM_047426502.1:c.2177G>T, XM_047426503.1:c.2147G>T, XM_047426505.1:c.1991G>T, NP_001136171.1:p.Ser863Ile, NP_001355.2:p.Ser758Ile, NP_001338204.1:p.Ser856Ile, NP_001338203.1:p.Ser857Ile, NP_001338205.1:p.Ser759Ile, NP_001193698.1:p.Ser797Ile, NP_001136172.1:p.Ser637Ile, NP_001136174.1:p.Ser222Ile, NP_001364897.1:p.Ser754Ile, NP_001364895.1:p.Ser797Ile, NP_001364896.1:p.Ser779Ile, NP_001287912.1:p.Ser740Ile, NP_001364902.1:p.Ser698Ile, NP_001364899.1:p.Ser745Ile, NP_001364900.1:p.Ser727Ile, NP_001364901.1:p.Ser707Ile, NP_001364903.1:p.Ser655Ile, NP_001364905.1:p.Ser251Ile, NP_001364907.1:p.Ser240Ile, NP_001364908.1:p.Ser236Ile, NP_001364909.1:p.Ser222Ile, NP_001364910.1:p.Ser205Ile, NP_001364906.1:p.Ser249Ile, NP_001364911.1:p.Ser163Ile, XP_005273867.1:p.Ser725Ile, XP_016872746.1:p.Ser913Ile, XP_016872745.1:p.Ser914Ile, XP_016872744.1:p.Ser914Ile, XP_016872753.1:p.Ser792Ile, XP_016872754.1:p.Ser791Ile, XP_016872760.1:p.Ser760Ile, XP_011543084.1:p.Ser779Ile, XP_016872770.1:p.Ser708Ile, XP_016872762.1:p.Ser759Ile, XP_016872769.1:p.Ser708Ile, XP_016872752.1:p.Ser793Ile, XP_016872747.1:p.Ser873Ile, XP_016872758.1:p.Ser768Ile, XP_016872751.1:p.Ser811Ile, XP_016872759.1:p.Ser761Ile, XP_016872756.1:p.Ser772Ile, XP_016872757.1:p.Ser771Ile, XP_016872765.1:p.Ser736Ile, XP_016872766.1:p.Ser730Ile, XP_016872768.1:p.Ser709Ile, XP_016872774.1:p.Ser684Ile, XP_016872773.1:p.Ser689Ile, XP_016872776.1:p.Ser306Ile, XP_016872779.1:p.Ser254Ile, XP_016872778.1:p.Ser281Ile, XP_047282451.1:p.Ser913Ile, XP_047282452.1:p.Ser895Ile, XP_047282454.1:p.Ser843Ile, XP_047282450.1:p.Ser927Ile, XP_047282453.1:p.Ser889Ile, XP_047282456.1:p.Ser778Ile, XP_047282455.1:p.Ser837Ile, XP_047282458.1:p.Ser726Ile, XP_047282459.1:p.Ser716Ile, XP_047282461.1:p.Ser664Ile

    2.

    rs1489078230 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      11:85111725 (GRCh38)
      11:84822769 (GRCh37)
      Canonical SPDI:
      NC_000011.10:85111724:C:A
      Gene:
      DLG2 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.85111725C>A, NC_000011.9:g.84822769C>A, NG_021375.2:g.521811G>T, NM_001142699.3:c.293G>T, NM_001142699.2:c.293G>T, NM_001142699.1:c.293G>T, XM_017017257.3:c.404G>T, XM_017017257.2:c.404G>T, XM_017017257.1:c.404G>T, XM_017017256.3:c.404G>T, XM_017017256.2:c.404G>T, XM_017017256.1:c.404G>T, XM_017017255.3:c.404G>T, XM_017017255.2:c.404G>T, XM_017017255.1:c.404G>T, XM_011544782.3:c.41G>T, XM_011544782.2:c.41G>T, XM_011544782.1:c.41G>T, XM_017017280.3:c.41G>T, XM_017017280.2:c.41G>T, XM_017017280.1:c.41G>T, XM_017017263.2:c.41G>T, XM_017017263.1:c.41G>T, XM_017017258.2:c.281G>T, XM_017017258.1:c.281G>T, XM_017017270.2:c.41G>T, XM_017017270.1:c.41G>T, XM_017017279.2:c.41G>T, XM_017017279.1:c.41G>T, XM_047426495.1:c.443G>T, XM_047426496.1:c.443G>T, XM_047426498.1:c.443G>T, XM_047426494.1:c.443G>T, NP_001136171.1:p.Gly98Val, XP_016872746.1:p.Gly135Val, XP_016872745.1:p.Gly135Val, XP_016872744.1:p.Gly135Val, XP_011543084.1:p.Gly14Val, XP_016872769.1:p.Gly14Val, XP_016872752.1:p.Gly14Val, XP_016872747.1:p.Gly94Val, XP_016872759.1:p.Gly14Val, XP_016872768.1:p.Gly14Val, XP_047282451.1:p.Gly148Val, XP_047282452.1:p.Gly148Val, XP_047282454.1:p.Gly148Val, XP_047282450.1:p.Gly148Val

      3.

      rs1488563403 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        11:83633265 (GRCh38)
        11:83344308 (GRCh37)
        Canonical SPDI:
        NC_000011.10:83633264:A:T
        Gene:
        DLG2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.83633265A>T, NC_000011.9:g.83344308A>T, NG_021375.2:g.2000271T>A, NM_001142699.3:c.1886T>A, NM_001142699.2:c.1886T>A, NM_001142699.1:c.1886T>A, NM_001364.3:c.1571T>A, NM_001351275.2:c.1919T>A, NM_001351275.1:c.1919T>A, NM_001351274.2:c.1922T>A, NM_001351274.1:c.1922T>A, NM_001351276.2:c.1628T>A, NM_001351276.1:c.1628T>A, NM_001206769.2:c.1688T>A, NM_001206769.1:c.1688T>A, NM_001142700.2:c.1262T>A, NM_001142700.1:c.1262T>A, NM_001142702.2:c.17T>A, NM_001142702.1:c.17T>A, NM_001377968.1:c.1571T>A, NM_001377966.1:c.1688T>A, NM_001377967.1:c.1688T>A, NM_001300983.1:c.1571T>A, NM_001377973.1:c.1445T>A, NM_001377970.1:c.1532T>A, NM_001377971.1:c.1532T>A, NM_001377972.1:c.1472T>A, NR_165353.1:n.1497T>A, NM_001377974.1:c.1316T>A, NM_001377976.1:c.104T>A, NM_001377978.1:c.17T>A, NM_001377979.1:c.17T>A, NM_001377980.1:c.17T>A, NM_001377981.1:c.17T>A, NM_001377977.1:c.98T>A, NM_001377982.1:c.17T>A, NM_001377975.1:c.1472T>A, XM_005273810.5:c.1472T>A, XM_005273810.4:c.1472T>A, XM_005273810.3:c.1472T>A, XM_005273810.2:c.1472T>A, XM_005273810.1:c.1472T>A, XM_017017257.3:c.1994T>A, XM_017017257.2:c.1994T>A, XM_017017257.1:c.1994T>A, XM_017017256.3:c.1997T>A, XM_017017256.2:c.1997T>A, XM_017017256.1:c.1997T>A, XM_017017255.3:c.1997T>A, XM_017017255.2:c.1997T>A, XM_017017255.1:c.1997T>A, XM_017017264.3:c.1631T>A, XM_017017264.2:c.1631T>A, XM_017017264.1:c.1631T>A, XM_017017265.3:c.1628T>A, XM_017017265.2:c.1628T>A, XM_017017265.1:c.1628T>A, XM_017017271.3:c.1631T>A, XM_017017271.2:c.1631T>A, XM_017017271.1:c.1631T>A, XM_011544782.3:c.1634T>A, XM_011544782.2:c.1634T>A, XM_011544782.1:c.1634T>A, XM_017017281.3:c.1475T>A, XM_017017281.2:c.1475T>A, XM_017017281.1:c.1475T>A, XM_017017273.3:c.1532T>A, XM_017017273.2:c.1532T>A, XM_017017273.1:c.1532T>A, XM_017017280.3:c.1475T>A, XM_017017280.2:c.1475T>A, XM_017017280.1:c.1475T>A, XM_017017263.2:c.1634T>A, XM_017017263.1:c.1634T>A, XM_017017258.2:c.1874T>A, XM_017017258.1:c.1874T>A, XM_017017269.2:c.1559T>A, XM_017017269.1:c.1559T>A, XM_017017262.2:c.1688T>A, XM_017017262.1:c.1688T>A, XM_017017270.2:c.1634T>A, XM_017017270.1:c.1634T>A, XM_017017267.2:c.1571T>A, XM_017017267.1:c.1571T>A, XM_017017268.2:c.1568T>A, XM_017017268.1:c.1568T>A, XM_017017276.2:c.1559T>A, XM_017017276.1:c.1559T>A, XM_017017277.2:c.1445T>A, XM_017017277.1:c.1445T>A, XM_017017279.2:c.1478T>A, XM_017017279.1:c.1478T>A, XM_017017285.2:c.1403T>A, XM_017017285.1:c.1403T>A, XM_017017284.2:c.1322T>A, XM_017017284.1:c.1322T>A, XM_017017287.2:c.173T>A, XM_017017287.1:c.173T>A, XM_017017290.2:c.17T>A, XM_017017290.1:c.17T>A, XM_017017289.2:c.98T>A, XM_017017289.1:c.98T>A, XM_047426495.1:c.2036T>A, XM_047426496.1:c.2036T>A, XM_047426498.1:c.1880T>A, XM_047426494.1:c.2036T>A, XM_047426497.1:c.1922T>A, XM_047426500.1:c.1631T>A, XM_047426499.1:c.1766T>A, XM_047426502.1:c.1475T>A, XM_047426503.1:c.1445T>A, XM_047426505.1:c.1289T>A, XM_047426506.1:c.1631T>A, NP_001136171.1:p.Met629Lys, NP_001355.2:p.Met524Lys, NP_001338204.1:p.Met640Lys, NP_001338203.1:p.Met641Lys, NP_001338205.1:p.Met543Lys, NP_001193698.1:p.Met563Lys, NP_001136172.1:p.Met421Lys, NP_001136174.1:p.Met6Lys, NP_001364897.1:p.Met524Lys, NP_001364895.1:p.Met563Lys, NP_001364896.1:p.Met563Lys, NP_001287912.1:p.Met524Lys, NP_001364902.1:p.Met482Lys, NP_001364899.1:p.Met511Lys, NP_001364900.1:p.Met511Lys, NP_001364901.1:p.Met491Lys, NP_001364903.1:p.Met439Lys, NP_001364905.1:p.Met35Lys, NP_001364907.1:p.Met6Lys, NP_001364908.1:p.Met6Lys, NP_001364909.1:p.Met6Lys, NP_001364910.1:p.Met6Lys, NP_001364906.1:p.Met33Lys, NP_001364911.1:p.Met6Lys, NP_001364904.1:p.Met491Lys, XP_005273867.1:p.Met491Lys, XP_016872746.1:p.Met665Lys, XP_016872745.1:p.Met666Lys, XP_016872744.1:p.Met666Lys, XP_016872753.1:p.Met544Lys, XP_016872754.1:p.Met543Lys, XP_016872760.1:p.Met544Lys, XP_011543084.1:p.Met545Lys, XP_016872770.1:p.Met492Lys, XP_016872762.1:p.Met511Lys, XP_016872769.1:p.Met492Lys, XP_016872752.1:p.Met545Lys, XP_016872747.1:p.Met625Lys, XP_016872758.1:p.Met520Lys, XP_016872751.1:p.Met563Lys, XP_016872759.1:p.Met545Lys, XP_016872756.1:p.Met524Lys, XP_016872757.1:p.Met523Lys, XP_016872765.1:p.Met520Lys, XP_016872766.1:p.Met482Lys, XP_016872768.1:p.Met493Lys, XP_016872774.1:p.Met468Lys, XP_016872773.1:p.Met441Lys, XP_016872776.1:p.Met58Lys, XP_016872779.1:p.Met6Lys, XP_016872778.1:p.Met33Lys, XP_047282451.1:p.Met679Lys, XP_047282452.1:p.Met679Lys, XP_047282454.1:p.Met627Lys, XP_047282450.1:p.Met679Lys, XP_047282453.1:p.Met641Lys, XP_047282456.1:p.Met544Lys, XP_047282455.1:p.Met589Lys, XP_047282458.1:p.Met492Lys, XP_047282459.1:p.Met482Lys, XP_047282461.1:p.Met430Lys, XP_047282462.1:p.Met544Lys

        4.

        rs1488230717 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:83472730 (GRCh38)
          11:83183773 (GRCh37)
          Canonical SPDI:
          NC_000011.10:83472729:C:G
          Gene:
          DLG2 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          G=0.000035/1 (TOMMO)
          HGVS:
          NC_000011.10:g.83472730C>G, NC_000011.9:g.83183773C>G, NG_021375.2:g.2160806G>C, NM_001142699.3:c.2341G>C, NM_001142699.2:c.2341G>C, NM_001142699.1:c.2341G>C, NM_001364.3:c.2026G>C, NM_001351275.2:c.2320G>C, NM_001351275.1:c.2320G>C, NM_001351274.2:c.2323G>C, NM_001351274.1:c.2323G>C, NM_001351276.2:c.2029G>C, NM_001351276.1:c.2029G>C, NM_001206769.2:c.2143G>C, NM_001206769.1:c.2143G>C, NM_001142700.2:c.1663G>C, NM_001142700.1:c.1663G>C, NM_001142702.2:c.418G>C, NM_001142702.1:c.418G>C, NM_001377968.1:c.2014G>C, NM_001377966.1:c.2143G>C, NM_001377967.1:c.2089G>C, NM_001300983.1:c.1972G>C, NM_001377973.1:c.1846G>C, NM_001377970.1:c.1987G>C, NM_001377971.1:c.1933G>C, NM_001377972.1:c.1873G>C, NM_001377974.1:c.1717G>C, NM_001377976.1:c.505G>C, NM_001377978.1:c.472G>C, NM_001377979.1:c.460G>C, NM_001377980.1:c.418G>C, NM_001377977.1:c.499G>C, NM_001377982.1:c.241G>C, XM_005273810.5:c.1927G>C, XM_005273810.4:c.1927G>C, XM_005273810.3:c.1927G>C, XM_005273810.2:c.1927G>C, XM_005273810.1:c.1927G>C, XM_017017257.3:c.2491G>C, XM_017017257.2:c.2491G>C, XM_017017257.1:c.2491G>C, XM_017017256.3:c.2494G>C, XM_017017256.2:c.2494G>C, XM_017017256.1:c.2494G>C, XM_017017255.3:c.2494G>C, XM_017017255.2:c.2494G>C, XM_017017255.1:c.2494G>C, XM_017017264.3:c.2128G>C, XM_017017264.2:c.2128G>C, XM_017017264.1:c.2128G>C, XM_017017265.3:c.2125G>C, XM_017017265.2:c.2125G>C, XM_017017265.1:c.2125G>C, XM_017017271.3:c.2032G>C, XM_017017271.2:c.2032G>C, XM_017017271.1:c.2032G>C, XM_011544782.3:c.2089G>C, XM_011544782.2:c.2089G>C, XM_011544782.1:c.2089G>C, XM_017017281.3:c.1876G>C, XM_017017281.2:c.1876G>C, XM_017017281.1:c.1876G>C, XM_017017273.3:c.2029G>C, XM_017017273.2:c.2029G>C, XM_017017273.1:c.2029G>C, XM_017017280.3:c.1876G>C, XM_017017280.2:c.1876G>C, XM_017017280.1:c.1876G>C, XM_017017263.2:c.2131G>C, XM_017017263.1:c.2131G>C, XM_017017258.2:c.2371G>C, XM_017017258.1:c.2371G>C, XM_017017269.2:c.2056G>C, XM_017017269.1:c.2056G>C, XM_017017262.2:c.2185G>C, XM_017017262.1:c.2185G>C, XM_017017270.2:c.2035G>C, XM_017017270.1:c.2035G>C, XM_017017267.2:c.2068G>C, XM_017017267.1:c.2068G>C, XM_017017268.2:c.2065G>C, XM_017017268.1:c.2065G>C, XM_017017276.2:c.1960G>C, XM_017017276.1:c.1960G>C, XM_017017277.2:c.1942G>C, XM_017017277.1:c.1942G>C, XM_017017279.2:c.1879G>C, XM_017017279.1:c.1879G>C, XM_017017285.2:c.1804G>C, XM_017017285.1:c.1804G>C, XM_017017284.2:c.1819G>C, XM_017017284.1:c.1819G>C, XM_017017287.2:c.670G>C, XM_017017287.1:c.670G>C, XM_017017290.2:c.514G>C, XM_017017290.1:c.514G>C, XM_017017289.2:c.595G>C, XM_017017289.1:c.595G>C, XM_047426495.1:c.2491G>C, XM_047426496.1:c.2437G>C, XM_047426498.1:c.2281G>C, XM_047426494.1:c.2533G>C, XM_047426497.1:c.2419G>C, XM_047426500.1:c.2086G>C, XM_047426499.1:c.2263G>C, XM_047426502.1:c.1930G>C, XM_047426503.1:c.1900G>C, XM_047426505.1:c.1744G>C, NP_001136171.1:p.Glu781Gln, NP_001355.2:p.Glu676Gln, NP_001338204.1:p.Glu774Gln, NP_001338203.1:p.Glu775Gln, NP_001338205.1:p.Glu677Gln, NP_001193698.1:p.Glu715Gln, NP_001136172.1:p.Glu555Gln, NP_001136174.1:p.Glu140Gln, NP_001364897.1:p.Glu672Gln, NP_001364895.1:p.Glu715Gln, NP_001364896.1:p.Glu697Gln, NP_001287912.1:p.Glu658Gln, NP_001364902.1:p.Glu616Gln, NP_001364899.1:p.Glu663Gln, NP_001364900.1:p.Glu645Gln, NP_001364901.1:p.Glu625Gln, NP_001364903.1:p.Glu573Gln, NP_001364905.1:p.Glu169Gln, NP_001364907.1:p.Glu158Gln, NP_001364908.1:p.Glu154Gln, NP_001364909.1:p.Glu140Gln, NP_001364906.1:p.Glu167Gln, NP_001364911.1:p.Glu81Gln, XP_005273867.1:p.Glu643Gln, XP_016872746.1:p.Glu831Gln, XP_016872745.1:p.Glu832Gln, XP_016872744.1:p.Glu832Gln, XP_016872753.1:p.Glu710Gln, XP_016872754.1:p.Glu709Gln, XP_016872760.1:p.Glu678Gln, XP_011543084.1:p.Glu697Gln, XP_016872770.1:p.Glu626Gln, XP_016872762.1:p.Glu677Gln, XP_016872769.1:p.Glu626Gln, XP_016872752.1:p.Glu711Gln, XP_016872747.1:p.Glu791Gln, XP_016872758.1:p.Glu686Gln, XP_016872751.1:p.Glu729Gln, XP_016872759.1:p.Glu679Gln, XP_016872756.1:p.Glu690Gln, XP_016872757.1:p.Glu689Gln, XP_016872765.1:p.Glu654Gln, XP_016872766.1:p.Glu648Gln, XP_016872768.1:p.Glu627Gln, XP_016872774.1:p.Glu602Gln, XP_016872773.1:p.Glu607Gln, XP_016872776.1:p.Glu224Gln, XP_016872779.1:p.Glu172Gln, XP_016872778.1:p.Glu199Gln, XP_047282451.1:p.Glu831Gln, XP_047282452.1:p.Glu813Gln, XP_047282454.1:p.Glu761Gln, XP_047282450.1:p.Glu845Gln, XP_047282453.1:p.Glu807Gln, XP_047282456.1:p.Glu696Gln, XP_047282455.1:p.Glu755Gln, XP_047282458.1:p.Glu644Gln, XP_047282459.1:p.Glu634Gln, XP_047282461.1:p.Glu582Gln

          5.

          rs1488169442 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:84059478 (GRCh38)
            11:83770521 (GRCh37)
            Canonical SPDI:
            NC_000011.10:84059477:A:G
            Gene:
            DLG2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000011.10:g.84059478A>G, NC_000011.9:g.83770521A>G, NG_021375.2:g.1574058T>C, NM_001142699.3:c.756T>C, NM_001142699.2:c.756T>C, NM_001142699.1:c.756T>C, NM_001364.3:c.441T>C, NM_001351275.2:c.789T>C, NM_001351275.1:c.789T>C, NM_001351274.2:c.792T>C, NM_001351274.1:c.792T>C, NM_001351276.2:c.498T>C, NM_001351276.1:c.498T>C, NM_001206769.2:c.558T>C, NM_001206769.1:c.558T>C, NM_001142700.2:c.288T>C, NM_001142700.1:c.288T>C, NM_001377968.1:c.441T>C, NM_001377966.1:c.558T>C, NM_001377967.1:c.558T>C, NM_001300983.1:c.441T>C, NM_001377973.1:c.315T>C, NM_001377970.1:c.558T>C, NM_001377971.1:c.558T>C, NM_001377972.1:c.342T>C, NR_165353.1:n.367T>C, NM_001377974.1:c.342T>C, NM_001377983.1:c.558T>C, NM_001377975.1:c.342T>C, XM_005273810.5:c.342T>C, XM_005273810.4:c.342T>C, XM_005273810.3:c.342T>C, XM_005273810.2:c.342T>C, XM_005273810.1:c.342T>C, XM_017017257.3:c.864T>C, XM_017017257.2:c.864T>C, XM_017017257.1:c.864T>C, XM_017017256.3:c.867T>C, XM_017017256.2:c.867T>C, XM_017017256.1:c.867T>C, XM_017017255.3:c.867T>C, XM_017017255.2:c.867T>C, XM_017017255.1:c.867T>C, XM_017017264.3:c.501T>C, XM_017017264.2:c.501T>C, XM_017017264.1:c.501T>C, XM_017017265.3:c.498T>C, XM_017017265.2:c.498T>C, XM_017017265.1:c.498T>C, XM_017017271.3:c.501T>C, XM_017017271.2:c.501T>C, XM_017017271.1:c.501T>C, XM_011544782.3:c.504T>C, XM_011544782.2:c.504T>C, XM_011544782.1:c.504T>C, XM_017017281.3:c.501T>C, XM_017017281.2:c.501T>C, XM_017017281.1:c.501T>C, XM_017017273.3:c.558T>C, XM_017017273.2:c.558T>C, XM_017017273.1:c.558T>C, XM_017017280.3:c.501T>C, XM_017017280.2:c.501T>C, XM_017017280.1:c.501T>C, XM_017017263.2:c.504T>C, XM_017017263.1:c.504T>C, XM_017017258.2:c.744T>C, XM_017017258.1:c.744T>C, XM_017017269.2:c.429T>C, XM_017017269.1:c.429T>C, XM_017017262.2:c.558T>C, XM_017017262.1:c.558T>C, XM_017017270.2:c.504T>C, XM_017017270.1:c.504T>C, XM_017017267.2:c.441T>C, XM_017017267.1:c.441T>C, XM_017017268.2:c.438T>C, XM_017017268.1:c.438T>C, XM_017017276.2:c.429T>C, XM_017017276.1:c.429T>C, XM_017017277.2:c.315T>C, XM_017017277.1:c.315T>C, XM_017017279.2:c.504T>C, XM_017017279.1:c.504T>C, XM_017017285.2:c.429T>C, XM_017017285.1:c.429T>C, XM_017017284.2:c.192T>C, XM_017017284.1:c.192T>C, XM_047426495.1:c.906T>C, XM_047426496.1:c.906T>C, XM_047426498.1:c.906T>C, XM_047426494.1:c.906T>C, XM_047426497.1:c.792T>C, XM_047426500.1:c.501T>C, XM_047426499.1:c.792T>C, XM_047426502.1:c.501T>C, XM_047426503.1:c.315T>C, XM_047426505.1:c.315T>C, XM_047426506.1:c.501T>C

            6.

            rs1487789201 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              11:83962939 (GRCh38)
              11:83673982 (GRCh37)
              Canonical SPDI:
              NC_000011.10:83962938:G:C
              Gene:
              DLG2 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000011.10:g.83962939G>C, NC_000011.9:g.83673982G>C, NG_021375.2:g.1670597C>G, NM_001142699.3:c.1286C>G, NM_001142699.2:c.1286C>G, NM_001142699.1:c.1286C>G, NM_001364.3:c.971C>G, NM_001351275.2:c.1319C>G, NM_001351275.1:c.1319C>G, NM_001351274.2:c.1322C>G, NM_001351274.1:c.1322C>G, NM_001351276.2:c.1028C>G, NM_001351276.1:c.1028C>G, NM_001206769.2:c.1088C>G, NM_001206769.1:c.1088C>G, NM_001142700.2:c.818C>G, NM_001142700.1:c.818C>G, NM_001377968.1:c.971C>G, NM_001377966.1:c.1088C>G, NM_001377967.1:c.1088C>G, NM_001300983.1:c.971C>G, NM_001377973.1:c.845C>G, NM_001377970.1:c.1088C>G, NM_001377971.1:c.1088C>G, NM_001377972.1:c.872C>G, NR_165353.1:n.897C>G, NM_001377974.1:c.872C>G, NM_001377975.1:c.872C>G, XM_005273810.5:c.872C>G, XM_005273810.4:c.872C>G, XM_005273810.3:c.872C>G, XM_005273810.2:c.872C>G, XM_005273810.1:c.872C>G, XM_017017257.3:c.1394C>G, XM_017017257.2:c.1394C>G, XM_017017257.1:c.1394C>G, XM_017017256.3:c.1397C>G, XM_017017256.2:c.1397C>G, XM_017017256.1:c.1397C>G, XM_017017255.3:c.1397C>G, XM_017017255.2:c.1397C>G, XM_017017255.1:c.1397C>G, XM_017017264.3:c.1031C>G, XM_017017264.2:c.1031C>G, XM_017017264.1:c.1031C>G, XM_017017265.3:c.1028C>G, XM_017017265.2:c.1028C>G, XM_017017265.1:c.1028C>G, XM_017017271.3:c.1031C>G, XM_017017271.2:c.1031C>G, XM_017017271.1:c.1031C>G, XM_011544782.3:c.1034C>G, XM_011544782.2:c.1034C>G, XM_011544782.1:c.1034C>G, XM_017017281.3:c.1031C>G, XM_017017281.2:c.1031C>G, XM_017017281.1:c.1031C>G, XM_017017273.3:c.1088C>G, XM_017017273.2:c.1088C>G, XM_017017273.1:c.1088C>G, XM_017017280.3:c.1031C>G, XM_017017280.2:c.1031C>G, XM_017017280.1:c.1031C>G, XM_017017263.2:c.1034C>G, XM_017017263.1:c.1034C>G, XM_017017258.2:c.1274C>G, XM_017017258.1:c.1274C>G, XM_017017269.2:c.959C>G, XM_017017269.1:c.959C>G, XM_017017262.2:c.1088C>G, XM_017017262.1:c.1088C>G, XM_017017270.2:c.1034C>G, XM_017017270.1:c.1034C>G, XM_017017267.2:c.971C>G, XM_017017267.1:c.971C>G, XM_017017268.2:c.968C>G, XM_017017268.1:c.968C>G, XM_017017276.2:c.959C>G, XM_017017276.1:c.959C>G, XM_017017277.2:c.845C>G, XM_017017277.1:c.845C>G, XM_017017279.2:c.1034C>G, XM_017017279.1:c.1034C>G, XM_017017285.2:c.959C>G, XM_017017285.1:c.959C>G, XM_017017284.2:c.722C>G, XM_017017284.1:c.722C>G, XM_047426495.1:c.1436C>G, XM_047426496.1:c.1436C>G, XM_047426498.1:c.1436C>G, XM_047426494.1:c.1436C>G, XM_047426497.1:c.1322C>G, XM_047426500.1:c.1031C>G, XM_047426499.1:c.1322C>G, XM_047426502.1:c.1031C>G, XM_047426503.1:c.845C>G, XM_047426505.1:c.845C>G, XM_047426506.1:c.1031C>G, NP_001136171.1:p.Pro429Arg, NP_001355.2:p.Pro324Arg, NP_001338204.1:p.Pro440Arg, NP_001338203.1:p.Pro441Arg, NP_001338205.1:p.Pro343Arg, NP_001193698.1:p.Pro363Arg, NP_001136172.1:p.Pro273Arg, NP_001364897.1:p.Pro324Arg, NP_001364895.1:p.Pro363Arg, NP_001364896.1:p.Pro363Arg, NP_001287912.1:p.Pro324Arg, NP_001364902.1:p.Pro282Arg, NP_001364899.1:p.Pro363Arg, NP_001364900.1:p.Pro363Arg, NP_001364901.1:p.Pro291Arg, NP_001364903.1:p.Pro291Arg, NP_001364904.1:p.Pro291Arg, XP_005273867.1:p.Pro291Arg, XP_016872746.1:p.Pro465Arg, XP_016872745.1:p.Pro466Arg, XP_016872744.1:p.Pro466Arg, XP_016872753.1:p.Pro344Arg, XP_016872754.1:p.Pro343Arg, XP_016872760.1:p.Pro344Arg, XP_011543084.1:p.Pro345Arg, XP_016872770.1:p.Pro344Arg, XP_016872762.1:p.Pro363Arg, XP_016872769.1:p.Pro344Arg, XP_016872752.1:p.Pro345Arg, XP_016872747.1:p.Pro425Arg, XP_016872758.1:p.Pro320Arg, XP_016872751.1:p.Pro363Arg, XP_016872759.1:p.Pro345Arg, XP_016872756.1:p.Pro324Arg, XP_016872757.1:p.Pro323Arg, XP_016872765.1:p.Pro320Arg, XP_016872766.1:p.Pro282Arg, XP_016872768.1:p.Pro345Arg, XP_016872774.1:p.Pro320Arg, XP_016872773.1:p.Pro241Arg, XP_047282451.1:p.Pro479Arg, XP_047282452.1:p.Pro479Arg, XP_047282454.1:p.Pro479Arg, XP_047282450.1:p.Pro479Arg, XP_047282453.1:p.Pro441Arg, XP_047282456.1:p.Pro344Arg, XP_047282455.1:p.Pro441Arg, XP_047282458.1:p.Pro344Arg, XP_047282459.1:p.Pro282Arg, XP_047282461.1:p.Pro282Arg, XP_047282462.1:p.Pro344Arg

              7.

              rs1487224882 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:83962931 (GRCh38)
                11:83673974 (GRCh37)
                Canonical SPDI:
                NC_000011.10:83962930:A:G
                Gene:
                DLG2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.83962931A>G, NC_000011.9:g.83673974A>G, NG_021375.2:g.1670605T>C, NM_001142699.3:c.1294T>C, NM_001142699.2:c.1294T>C, NM_001142699.1:c.1294T>C, NM_001364.3:c.979T>C, NM_001351275.2:c.1327T>C, NM_001351275.1:c.1327T>C, NM_001351274.2:c.1330T>C, NM_001351274.1:c.1330T>C, NM_001351276.2:c.1036T>C, NM_001351276.1:c.1036T>C, NM_001206769.2:c.1096T>C, NM_001206769.1:c.1096T>C, NM_001142700.2:c.826T>C, NM_001142700.1:c.826T>C, NM_001377968.1:c.979T>C, NM_001377966.1:c.1096T>C, NM_001377967.1:c.1096T>C, NM_001300983.1:c.979T>C, NM_001377973.1:c.853T>C, NM_001377970.1:c.1096T>C, NM_001377971.1:c.1096T>C, NM_001377972.1:c.880T>C, NR_165353.1:n.905T>C, NM_001377974.1:c.880T>C, NM_001377975.1:c.880T>C, XM_005273810.5:c.880T>C, XM_005273810.4:c.880T>C, XM_005273810.3:c.880T>C, XM_005273810.2:c.880T>C, XM_005273810.1:c.880T>C, XM_017017257.3:c.1402T>C, XM_017017257.2:c.1402T>C, XM_017017257.1:c.1402T>C, XM_017017256.3:c.1405T>C, XM_017017256.2:c.1405T>C, XM_017017256.1:c.1405T>C, XM_017017255.3:c.1405T>C, XM_017017255.2:c.1405T>C, XM_017017255.1:c.1405T>C, XM_017017264.3:c.1039T>C, XM_017017264.2:c.1039T>C, XM_017017264.1:c.1039T>C, XM_017017265.3:c.1036T>C, XM_017017265.2:c.1036T>C, XM_017017265.1:c.1036T>C, XM_017017271.3:c.1039T>C, XM_017017271.2:c.1039T>C, XM_017017271.1:c.1039T>C, XM_011544782.3:c.1042T>C, XM_011544782.2:c.1042T>C, XM_011544782.1:c.1042T>C, XM_017017281.3:c.1039T>C, XM_017017281.2:c.1039T>C, XM_017017281.1:c.1039T>C, XM_017017273.3:c.1096T>C, XM_017017273.2:c.1096T>C, XM_017017273.1:c.1096T>C, XM_017017280.3:c.1039T>C, XM_017017280.2:c.1039T>C, XM_017017280.1:c.1039T>C, XM_017017263.2:c.1042T>C, XM_017017263.1:c.1042T>C, XM_017017258.2:c.1282T>C, XM_017017258.1:c.1282T>C, XM_017017269.2:c.967T>C, XM_017017269.1:c.967T>C, XM_017017262.2:c.1096T>C, XM_017017262.1:c.1096T>C, XM_017017270.2:c.1042T>C, XM_017017270.1:c.1042T>C, XM_017017267.2:c.979T>C, XM_017017267.1:c.979T>C, XM_017017268.2:c.976T>C, XM_017017268.1:c.976T>C, XM_017017276.2:c.967T>C, XM_017017276.1:c.967T>C, XM_017017277.2:c.853T>C, XM_017017277.1:c.853T>C, XM_017017279.2:c.1042T>C, XM_017017279.1:c.1042T>C, XM_017017285.2:c.967T>C, XM_017017285.1:c.967T>C, XM_017017284.2:c.730T>C, XM_017017284.1:c.730T>C, XM_047426495.1:c.1444T>C, XM_047426496.1:c.1444T>C, XM_047426498.1:c.1444T>C, XM_047426494.1:c.1444T>C, XM_047426497.1:c.1330T>C, XM_047426500.1:c.1039T>C, XM_047426499.1:c.1330T>C, XM_047426502.1:c.1039T>C, XM_047426503.1:c.853T>C, XM_047426505.1:c.853T>C, XM_047426506.1:c.1039T>C, NP_001136171.1:p.Tyr432His, NP_001355.2:p.Tyr327His, NP_001338204.1:p.Tyr443His, NP_001338203.1:p.Tyr444His, NP_001338205.1:p.Tyr346His, NP_001193698.1:p.Tyr366His, NP_001136172.1:p.Tyr276His, NP_001364897.1:p.Tyr327His, NP_001364895.1:p.Tyr366His, NP_001364896.1:p.Tyr366His, NP_001287912.1:p.Tyr327His, NP_001364902.1:p.Tyr285His, NP_001364899.1:p.Tyr366His, NP_001364900.1:p.Tyr366His, NP_001364901.1:p.Tyr294His, NP_001364903.1:p.Tyr294His, NP_001364904.1:p.Tyr294His, XP_005273867.1:p.Tyr294His, XP_016872746.1:p.Tyr468His, XP_016872745.1:p.Tyr469His, XP_016872744.1:p.Tyr469His, XP_016872753.1:p.Tyr347His, XP_016872754.1:p.Tyr346His, XP_016872760.1:p.Tyr347His, XP_011543084.1:p.Tyr348His, XP_016872770.1:p.Tyr347His, XP_016872762.1:p.Tyr366His, XP_016872769.1:p.Tyr347His, XP_016872752.1:p.Tyr348His, XP_016872747.1:p.Tyr428His, XP_016872758.1:p.Tyr323His, XP_016872751.1:p.Tyr366His, XP_016872759.1:p.Tyr348His, XP_016872756.1:p.Tyr327His, XP_016872757.1:p.Tyr326His, XP_016872765.1:p.Tyr323His, XP_016872766.1:p.Tyr285His, XP_016872768.1:p.Tyr348His, XP_016872774.1:p.Tyr323His, XP_016872773.1:p.Tyr244His, XP_047282451.1:p.Tyr482His, XP_047282452.1:p.Tyr482His, XP_047282454.1:p.Tyr482His, XP_047282450.1:p.Tyr482His, XP_047282453.1:p.Tyr444His, XP_047282456.1:p.Tyr347His, XP_047282455.1:p.Tyr444His, XP_047282458.1:p.Tyr347His, XP_047282459.1:p.Tyr285His, XP_047282461.1:p.Tyr285His, XP_047282462.1:p.Tyr347His

                8.

                rs1485356954 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  11:83532758 (GRCh38)
                  11:83243801 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:83532757:A:G,NC_000011.10:83532757:A:T
                  Gene:
                  DLG2 (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:
                  T=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.83532758A>G, NC_000011.10:g.83532758A>T, NC_000011.9:g.83243801A>G, NC_000011.9:g.83243801A>T, NG_021375.2:g.2100778T>C, NG_021375.2:g.2100778T>A, NM_001142699.3:c.2143T>C, NM_001142699.3:c.2143T>A, NM_001142699.2:c.2143T>C, NM_001142699.2:c.2143T>A, NM_001142699.1:c.2143T>C, NM_001142699.1:c.2143T>A, NM_001364.3:c.1828T>C, NM_001364.3:c.1828T>A, NM_001351275.2:c.2176T>C, NM_001351275.2:c.2176T>A, NM_001351275.1:c.2176T>C, NM_001351275.1:c.2176T>A, NM_001351274.2:c.2179T>C, NM_001351274.2:c.2179T>A, NM_001351274.1:c.2179T>C, NM_001351274.1:c.2179T>A, NM_001351276.2:c.1885T>C, NM_001351276.2:c.1885T>A, NM_001351276.1:c.1885T>C, NM_001351276.1:c.1885T>A, NM_001206769.2:c.1945T>C, NM_001206769.2:c.1945T>A, NM_001206769.1:c.1945T>C, NM_001206769.1:c.1945T>A, NM_001142700.2:c.1519T>C, NM_001142700.2:c.1519T>A, NM_001142700.1:c.1519T>C, NM_001142700.1:c.1519T>A, NM_001142702.2:c.274T>C, NM_001142702.2:c.274T>A, NM_001142702.1:c.274T>C, NM_001142702.1:c.274T>A, NM_001377968.1:c.1828T>C, NM_001377968.1:c.1828T>A, NM_001377966.1:c.1945T>C, NM_001377966.1:c.1945T>A, NM_001377967.1:c.1945T>C, NM_001377967.1:c.1945T>A, NM_001300983.1:c.1828T>C, NM_001300983.1:c.1828T>A, NM_001377973.1:c.1702T>C, NM_001377973.1:c.1702T>A, NM_001377970.1:c.1789T>C, NM_001377970.1:c.1789T>A, NM_001377971.1:c.1789T>C, NM_001377971.1:c.1789T>A, NM_001377972.1:c.1729T>C, NM_001377972.1:c.1729T>A, NR_165353.1:n.1754T>C, NR_165353.1:n.1754T>A, NM_001377974.1:c.1573T>C, NM_001377974.1:c.1573T>A, NM_001377976.1:c.361T>C, NM_001377976.1:c.361T>A, NM_001377978.1:c.274T>C, NM_001377978.1:c.274T>A, NM_001377979.1:c.274T>C, NM_001377979.1:c.274T>A, NM_001377980.1:c.274T>C, NM_001377980.1:c.274T>A, NM_001377981.1:c.274T>C, NM_001377981.1:c.274T>A, NM_001377977.1:c.355T>C, NM_001377977.1:c.355T>A, NM_001377982.1:c.97T>C, NM_001377982.1:c.97T>A, XM_005273810.5:c.1729T>C, XM_005273810.5:c.1729T>A, XM_005273810.4:c.1729T>C, XM_005273810.4:c.1729T>A, XM_005273810.3:c.1729T>C, XM_005273810.3:c.1729T>A, XM_005273810.2:c.1729T>C, XM_005273810.2:c.1729T>A, XM_005273810.1:c.1729T>C, XM_005273810.1:c.1729T>A, XM_017017257.3:c.2251T>C, XM_017017257.3:c.2251T>A, XM_017017257.2:c.2251T>C, XM_017017257.2:c.2251T>A, XM_017017257.1:c.2251T>C, XM_017017257.1:c.2251T>A, XM_017017256.3:c.2254T>C, XM_017017256.3:c.2254T>A, XM_017017256.2:c.2254T>C, XM_017017256.2:c.2254T>A, XM_017017256.1:c.2254T>C, XM_017017256.1:c.2254T>A, XM_017017255.3:c.2254T>C, XM_017017255.3:c.2254T>A, XM_017017255.2:c.2254T>C, XM_017017255.2:c.2254T>A, XM_017017255.1:c.2254T>C, XM_017017255.1:c.2254T>A, XM_017017264.3:c.1888T>C, XM_017017264.3:c.1888T>A, XM_017017264.2:c.1888T>C, XM_017017264.2:c.1888T>A, XM_017017264.1:c.1888T>C, XM_017017264.1:c.1888T>A, XM_017017265.3:c.1885T>C, XM_017017265.3:c.1885T>A, XM_017017265.2:c.1885T>C, XM_017017265.2:c.1885T>A, XM_017017265.1:c.1885T>C, XM_017017265.1:c.1885T>A, XM_017017271.3:c.1888T>C, XM_017017271.3:c.1888T>A, XM_017017271.2:c.1888T>C, XM_017017271.2:c.1888T>A, XM_017017271.1:c.1888T>C, XM_017017271.1:c.1888T>A, XM_011544782.3:c.1891T>C, XM_011544782.3:c.1891T>A, XM_011544782.2:c.1891T>C, XM_011544782.2:c.1891T>A, XM_011544782.1:c.1891T>C, XM_011544782.1:c.1891T>A, XM_017017281.3:c.1732T>C, XM_017017281.3:c.1732T>A, XM_017017281.2:c.1732T>C, XM_017017281.2:c.1732T>A, XM_017017281.1:c.1732T>C, XM_017017281.1:c.1732T>A, XM_017017273.3:c.1789T>C, XM_017017273.3:c.1789T>A, XM_017017273.2:c.1789T>C, XM_017017273.2:c.1789T>A, XM_017017273.1:c.1789T>C, XM_017017273.1:c.1789T>A, XM_017017280.3:c.1732T>C, XM_017017280.3:c.1732T>A, XM_017017280.2:c.1732T>C, XM_017017280.2:c.1732T>A, XM_017017280.1:c.1732T>C, XM_017017280.1:c.1732T>A, XM_017017263.2:c.1891T>C, XM_017017263.2:c.1891T>A, XM_017017263.1:c.1891T>C, XM_017017263.1:c.1891T>A, XM_017017258.2:c.2131T>C, XM_017017258.2:c.2131T>A, XM_017017258.1:c.2131T>C, XM_017017258.1:c.2131T>A, XM_017017269.2:c.1816T>C, XM_017017269.2:c.1816T>A, XM_017017269.1:c.1816T>C, XM_017017269.1:c.1816T>A, XM_017017262.2:c.1945T>C, XM_017017262.2:c.1945T>A, XM_017017262.1:c.1945T>C, XM_017017262.1:c.1945T>A, XM_017017270.2:c.1891T>C, XM_017017270.2:c.1891T>A, XM_017017270.1:c.1891T>C, XM_017017270.1:c.1891T>A, XM_017017267.2:c.1828T>C, XM_017017267.2:c.1828T>A, XM_017017267.1:c.1828T>C, XM_017017267.1:c.1828T>A, XM_017017268.2:c.1825T>C, XM_017017268.2:c.1825T>A, XM_017017268.1:c.1825T>C, XM_017017268.1:c.1825T>A, XM_017017276.2:c.1816T>C, XM_017017276.2:c.1816T>A, XM_017017276.1:c.1816T>C, XM_017017276.1:c.1816T>A, XM_017017277.2:c.1702T>C, XM_017017277.2:c.1702T>A, XM_017017277.1:c.1702T>C, XM_017017277.1:c.1702T>A, XM_017017279.2:c.1735T>C, XM_017017279.2:c.1735T>A, XM_017017279.1:c.1735T>C, XM_017017279.1:c.1735T>A, XM_017017285.2:c.1660T>C, XM_017017285.2:c.1660T>A, XM_017017285.1:c.1660T>C, XM_017017285.1:c.1660T>A, XM_017017284.2:c.1579T>C, XM_017017284.2:c.1579T>A, XM_017017284.1:c.1579T>C, XM_017017284.1:c.1579T>A, XM_017017287.2:c.430T>C, XM_017017287.2:c.430T>A, XM_017017287.1:c.430T>C, XM_017017287.1:c.430T>A, XM_017017290.2:c.274T>C, XM_017017290.2:c.274T>A, XM_017017290.1:c.274T>C, XM_017017290.1:c.274T>A, XM_017017289.2:c.355T>C, XM_017017289.2:c.355T>A, XM_017017289.1:c.355T>C, XM_017017289.1:c.355T>A, XM_047426495.1:c.2293T>C, XM_047426495.1:c.2293T>A, XM_047426496.1:c.2293T>C, XM_047426496.1:c.2293T>A, XM_047426498.1:c.2137T>C, XM_047426498.1:c.2137T>A, XM_047426494.1:c.2293T>C, XM_047426494.1:c.2293T>A, XM_047426497.1:c.2179T>C, XM_047426497.1:c.2179T>A, XM_047426500.1:c.1888T>C, XM_047426500.1:c.1888T>A, XM_047426499.1:c.2023T>C, XM_047426499.1:c.2023T>A, XM_047426502.1:c.1732T>C, XM_047426502.1:c.1732T>A, XM_047426503.1:c.1702T>C, XM_047426503.1:c.1702T>A, XM_047426505.1:c.1546T>C, XM_047426505.1:c.1546T>A, XM_047426506.1:c.1888T>C, XM_047426506.1:c.1888T>A, NP_001136171.1:p.Leu715Met, NP_001355.2:p.Leu610Met, NP_001338204.1:p.Leu726Met, NP_001338203.1:p.Leu727Met, NP_001338205.1:p.Leu629Met, NP_001193698.1:p.Leu649Met, NP_001136172.1:p.Leu507Met, NP_001136174.1:p.Leu92Met, NP_001364897.1:p.Leu610Met, NP_001364895.1:p.Leu649Met, NP_001364896.1:p.Leu649Met, NP_001287912.1:p.Leu610Met, NP_001364902.1:p.Leu568Met, NP_001364899.1:p.Leu597Met, NP_001364900.1:p.Leu597Met, NP_001364901.1:p.Leu577Met, NP_001364903.1:p.Leu525Met, NP_001364905.1:p.Leu121Met, NP_001364907.1:p.Leu92Met, NP_001364908.1:p.Leu92Met, NP_001364909.1:p.Leu92Met, NP_001364910.1:p.Leu92Met, NP_001364906.1:p.Leu119Met, NP_001364911.1:p.Leu33Met, XP_005273867.1:p.Leu577Met, XP_016872746.1:p.Leu751Met, XP_016872745.1:p.Leu752Met, XP_016872744.1:p.Leu752Met, XP_016872753.1:p.Leu630Met, XP_016872754.1:p.Leu629Met, XP_016872760.1:p.Leu630Met, XP_011543084.1:p.Leu631Met, XP_016872770.1:p.Leu578Met, XP_016872762.1:p.Leu597Met, XP_016872769.1:p.Leu578Met, XP_016872752.1:p.Leu631Met, XP_016872747.1:p.Leu711Met, XP_016872758.1:p.Leu606Met, XP_016872751.1:p.Leu649Met, XP_016872759.1:p.Leu631Met, XP_016872756.1:p.Leu610Met, XP_016872757.1:p.Leu609Met, XP_016872765.1:p.Leu606Met, XP_016872766.1:p.Leu568Met, XP_016872768.1:p.Leu579Met, XP_016872774.1:p.Leu554Met, XP_016872773.1:p.Leu527Met, XP_016872776.1:p.Leu144Met, XP_016872779.1:p.Leu92Met, XP_016872778.1:p.Leu119Met, XP_047282451.1:p.Leu765Met, XP_047282452.1:p.Leu765Met, XP_047282454.1:p.Leu713Met, XP_047282450.1:p.Leu765Met, XP_047282453.1:p.Leu727Met, XP_047282456.1:p.Leu630Met, XP_047282455.1:p.Leu675Met, XP_047282458.1:p.Leu578Met, XP_047282459.1:p.Leu568Met, XP_047282461.1:p.Leu516Met, XP_047282462.1:p.Leu630Met

                  9.

                  rs1484400112 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:83466736 (GRCh38)
                    11:83177779 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:83466735:T:C
                    Gene:
                    DLG2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.83466736T>C, NC_000011.9:g.83177779T>C, NG_021375.2:g.2166800A>G, NM_001142699.3:c.2701A>G, NM_001142699.2:c.2701A>G, NM_001142699.1:c.2701A>G, NM_001364.3:c.2386A>G, NM_001351275.2:c.2680A>G, NM_001351275.1:c.2680A>G, NM_001351274.2:c.2683A>G, NM_001351274.1:c.2683A>G, NM_001351276.2:c.2389A>G, NM_001351276.1:c.2389A>G, NM_001206769.2:c.2503A>G, NM_001206769.1:c.2503A>G, NM_001142700.2:c.2023A>G, NM_001142700.1:c.2023A>G, NM_001142702.2:c.778A>G, NM_001142702.1:c.778A>G, NM_001377968.1:c.2374A>G, NM_001377966.1:c.2503A>G, NM_001377967.1:c.2449A>G, NM_001300983.1:c.2332A>G, NM_001377973.1:c.2206A>G, NM_001377970.1:c.2347A>G, NM_001377971.1:c.2293A>G, NM_001377972.1:c.2233A>G, NR_165353.1:n.2161A>G, NM_001377974.1:c.2077A>G, NM_001377976.1:c.865A>G, NM_001377978.1:c.832A>G, NM_001377979.1:c.820A>G, NM_001377980.1:c.778A>G, NM_001377981.1:c.727A>G, NM_001377977.1:c.859A>G, NM_001377982.1:c.601A>G, XM_005273810.5:c.2287A>G, XM_005273810.4:c.2287A>G, XM_005273810.3:c.2287A>G, XM_005273810.2:c.2287A>G, XM_005273810.1:c.2287A>G, XM_017017257.3:c.2851A>G, XM_017017257.2:c.2851A>G, XM_017017257.1:c.2851A>G, XM_017017256.3:c.2854A>G, XM_017017256.2:c.2854A>G, XM_017017256.1:c.2854A>G, XM_017017255.3:c.2854A>G, XM_017017255.2:c.2854A>G, XM_017017255.1:c.2854A>G, XM_017017264.3:c.2488A>G, XM_017017264.2:c.2488A>G, XM_017017264.1:c.2488A>G, XM_017017265.3:c.2485A>G, XM_017017265.2:c.2485A>G, XM_017017265.1:c.2485A>G, XM_017017271.3:c.2392A>G, XM_017017271.2:c.2392A>G, XM_017017271.1:c.2392A>G, XM_011544782.3:c.2449A>G, XM_011544782.2:c.2449A>G, XM_011544782.1:c.2449A>G, XM_017017281.3:c.2236A>G, XM_017017281.2:c.2236A>G, XM_017017281.1:c.2236A>G, XM_017017273.3:c.2389A>G, XM_017017273.2:c.2389A>G, XM_017017273.1:c.2389A>G, XM_017017280.3:c.2236A>G, XM_017017280.2:c.2236A>G, XM_017017280.1:c.2236A>G, XM_017017263.2:c.2491A>G, XM_017017263.1:c.2491A>G, XM_017017258.2:c.2731A>G, XM_017017258.1:c.2731A>G, XM_017017269.2:c.2416A>G, XM_017017269.1:c.2416A>G, XM_017017262.2:c.2545A>G, XM_017017262.1:c.2545A>G, XM_017017270.2:c.2395A>G, XM_017017270.1:c.2395A>G, XM_017017267.2:c.2428A>G, XM_017017267.1:c.2428A>G, XM_017017268.2:c.2425A>G, XM_017017268.1:c.2425A>G, XM_017017276.2:c.2320A>G, XM_017017276.1:c.2320A>G, XM_017017277.2:c.2302A>G, XM_017017277.1:c.2302A>G, XM_017017279.2:c.2239A>G, XM_017017279.1:c.2239A>G, XM_017017285.2:c.2164A>G, XM_017017285.1:c.2164A>G, XM_017017284.2:c.2179A>G, XM_017017284.1:c.2179A>G, XM_017017287.2:c.1030A>G, XM_017017287.1:c.1030A>G, XM_017017290.2:c.874A>G, XM_017017290.1:c.874A>G, XM_017017289.2:c.955A>G, XM_017017289.1:c.955A>G, XM_047426495.1:c.2851A>G, XM_047426496.1:c.2797A>G, XM_047426498.1:c.2641A>G, XM_047426494.1:c.2893A>G, XM_047426497.1:c.2779A>G, XM_047426500.1:c.2446A>G, XM_047426499.1:c.2623A>G, XM_047426502.1:c.2290A>G, XM_047426503.1:c.2260A>G, XM_047426505.1:c.2104A>G, NP_001136171.1:p.Ile901Val, NP_001355.2:p.Ile796Val, NP_001338204.1:p.Ile894Val, NP_001338203.1:p.Ile895Val, NP_001338205.1:p.Ile797Val, NP_001193698.1:p.Ile835Val, NP_001136172.1:p.Ile675Val, NP_001136174.1:p.Ile260Val, NP_001364897.1:p.Ile792Val, NP_001364895.1:p.Ile835Val, NP_001364896.1:p.Ile817Val, NP_001287912.1:p.Ile778Val, NP_001364902.1:p.Ile736Val, NP_001364899.1:p.Ile783Val, NP_001364900.1:p.Ile765Val, NP_001364901.1:p.Ile745Val, NP_001364903.1:p.Ile693Val, NP_001364905.1:p.Ile289Val, NP_001364907.1:p.Ile278Val, NP_001364908.1:p.Ile274Val, NP_001364909.1:p.Ile260Val, NP_001364910.1:p.Ile243Val, NP_001364906.1:p.Ile287Val, NP_001364911.1:p.Ile201Val, XP_005273867.1:p.Ile763Val, XP_016872746.1:p.Ile951Val, XP_016872745.1:p.Ile952Val, XP_016872744.1:p.Ile952Val, XP_016872753.1:p.Ile830Val, XP_016872754.1:p.Ile829Val, XP_016872760.1:p.Ile798Val, XP_011543084.1:p.Ile817Val, XP_016872770.1:p.Ile746Val, XP_016872762.1:p.Ile797Val, XP_016872769.1:p.Ile746Val, XP_016872752.1:p.Ile831Val, XP_016872747.1:p.Ile911Val, XP_016872758.1:p.Ile806Val, XP_016872751.1:p.Ile849Val, XP_016872759.1:p.Ile799Val, XP_016872756.1:p.Ile810Val, XP_016872757.1:p.Ile809Val, XP_016872765.1:p.Ile774Val, XP_016872766.1:p.Ile768Val, XP_016872768.1:p.Ile747Val, XP_016872774.1:p.Ile722Val, XP_016872773.1:p.Ile727Val, XP_016872776.1:p.Ile344Val, XP_016872779.1:p.Ile292Val, XP_016872778.1:p.Ile319Val, XP_047282451.1:p.Ile951Val, XP_047282452.1:p.Ile933Val, XP_047282454.1:p.Ile881Val, XP_047282450.1:p.Ile965Val, XP_047282453.1:p.Ile927Val, XP_047282456.1:p.Ile816Val, XP_047282455.1:p.Ile875Val, XP_047282458.1:p.Ile764Val, XP_047282459.1:p.Ile754Val, XP_047282461.1:p.Ile702Val

                    10.

                    rs1477795349 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      11:83965442 (GRCh38)
                      11:83676485 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:83965441:T:A
                      Gene:
                      DLG2 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.83965442T>A, NC_000011.9:g.83676485T>A, NG_021375.2:g.1668094A>T, NM_001142699.3:c.1083A>T, NM_001142699.2:c.1083A>T, NM_001142699.1:c.1083A>T, NM_001364.3:c.768A>T, NM_001351275.2:c.1116A>T, NM_001351275.1:c.1116A>T, NM_001351274.2:c.1119A>T, NM_001351274.1:c.1119A>T, NM_001351276.2:c.825A>T, NM_001351276.1:c.825A>T, NM_001206769.2:c.885A>T, NM_001206769.1:c.885A>T, NM_001142700.2:c.615A>T, NM_001142700.1:c.615A>T, NM_001377968.1:c.768A>T, NM_001377966.1:c.885A>T, NM_001377967.1:c.885A>T, NM_001300983.1:c.768A>T, NM_001377973.1:c.642A>T, NM_001377970.1:c.885A>T, NM_001377971.1:c.885A>T, NM_001377972.1:c.669A>T, NR_165353.1:n.694A>T, NM_001377974.1:c.669A>T, NM_001377975.1:c.669A>T, XM_005273810.5:c.669A>T, XM_005273810.4:c.669A>T, XM_005273810.3:c.669A>T, XM_005273810.2:c.669A>T, XM_005273810.1:c.669A>T, XM_017017257.3:c.1191A>T, XM_017017257.2:c.1191A>T, XM_017017257.1:c.1191A>T, XM_017017256.3:c.1194A>T, XM_017017256.2:c.1194A>T, XM_017017256.1:c.1194A>T, XM_017017255.3:c.1194A>T, XM_017017255.2:c.1194A>T, XM_017017255.1:c.1194A>T, XM_017017264.3:c.828A>T, XM_017017264.2:c.828A>T, XM_017017264.1:c.828A>T, XM_017017265.3:c.825A>T, XM_017017265.2:c.825A>T, XM_017017265.1:c.825A>T, XM_017017271.3:c.828A>T, XM_017017271.2:c.828A>T, XM_017017271.1:c.828A>T, XM_011544782.3:c.831A>T, XM_011544782.2:c.831A>T, XM_011544782.1:c.831A>T, XM_017017281.3:c.828A>T, XM_017017281.2:c.828A>T, XM_017017281.1:c.828A>T, XM_017017273.3:c.885A>T, XM_017017273.2:c.885A>T, XM_017017273.1:c.885A>T, XM_017017280.3:c.828A>T, XM_017017280.2:c.828A>T, XM_017017280.1:c.828A>T, XM_017017263.2:c.831A>T, XM_017017263.1:c.831A>T, XM_017017258.2:c.1071A>T, XM_017017258.1:c.1071A>T, XM_017017269.2:c.756A>T, XM_017017269.1:c.756A>T, XM_017017262.2:c.885A>T, XM_017017262.1:c.885A>T, XM_017017270.2:c.831A>T, XM_017017270.1:c.831A>T, XM_017017267.2:c.768A>T, XM_017017267.1:c.768A>T, XM_017017268.2:c.765A>T, XM_017017268.1:c.765A>T, XM_017017276.2:c.756A>T, XM_017017276.1:c.756A>T, XM_017017277.2:c.642A>T, XM_017017277.1:c.642A>T, XM_017017279.2:c.831A>T, XM_017017279.1:c.831A>T, XM_017017285.2:c.756A>T, XM_017017285.1:c.756A>T, XM_017017284.2:c.519A>T, XM_017017284.1:c.519A>T, XM_047426495.1:c.1233A>T, XM_047426496.1:c.1233A>T, XM_047426498.1:c.1233A>T, XM_047426494.1:c.1233A>T, XM_047426497.1:c.1119A>T, XM_047426500.1:c.828A>T, XM_047426499.1:c.1119A>T, XM_047426502.1:c.828A>T, XM_047426503.1:c.642A>T, XM_047426505.1:c.642A>T, XM_047426506.1:c.828A>T

                      11.

                      rs1477730705 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        11:84059336 (GRCh38)
                        11:83770379 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:84059335:T:C,NC_000011.10:84059335:T:G
                        Gene:
                        DLG2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.84059336T>C, NC_000011.10:g.84059336T>G, NC_000011.9:g.83770379T>C, NC_000011.9:g.83770379T>G, NG_021375.2:g.1574200A>G, NG_021375.2:g.1574200A>C, NM_001142699.3:c.898A>G, NM_001142699.3:c.898A>C, NM_001142699.2:c.898A>G, NM_001142699.2:c.898A>C, NM_001142699.1:c.898A>G, NM_001142699.1:c.898A>C, NM_001364.3:c.583A>G, NM_001364.3:c.583A>C, NM_001351275.2:c.931A>G, NM_001351275.2:c.931A>C, NM_001351275.1:c.931A>G, NM_001351275.1:c.931A>C, NM_001351274.2:c.934A>G, NM_001351274.2:c.934A>C, NM_001351274.1:c.934A>G, NM_001351274.1:c.934A>C, NM_001351276.2:c.640A>G, NM_001351276.2:c.640A>C, NM_001351276.1:c.640A>G, NM_001351276.1:c.640A>C, NM_001206769.2:c.700A>G, NM_001206769.2:c.700A>C, NM_001206769.1:c.700A>G, NM_001206769.1:c.700A>C, NM_001142700.2:c.430A>G, NM_001142700.2:c.430A>C, NM_001142700.1:c.430A>G, NM_001142700.1:c.430A>C, NM_001377968.1:c.583A>G, NM_001377968.1:c.583A>C, NM_001377966.1:c.700A>G, NM_001377966.1:c.700A>C, NM_001377967.1:c.700A>G, NM_001377967.1:c.700A>C, NM_001300983.1:c.583A>G, NM_001300983.1:c.583A>C, NM_001377973.1:c.457A>G, NM_001377973.1:c.457A>C, NM_001377970.1:c.700A>G, NM_001377970.1:c.700A>C, NM_001377971.1:c.700A>G, NM_001377971.1:c.700A>C, NM_001377972.1:c.484A>G, NM_001377972.1:c.484A>C, NR_165353.1:n.509A>G, NR_165353.1:n.509A>C, NM_001377974.1:c.484A>G, NM_001377974.1:c.484A>C, NM_001377983.1:c.700A>G, NM_001377983.1:c.700A>C, NM_001377975.1:c.484A>G, NM_001377975.1:c.484A>C, XM_005273810.5:c.484A>G, XM_005273810.5:c.484A>C, XM_005273810.4:c.484A>G, XM_005273810.4:c.484A>C, XM_005273810.3:c.484A>G, XM_005273810.3:c.484A>C, XM_005273810.2:c.484A>G, XM_005273810.2:c.484A>C, XM_005273810.1:c.484A>G, XM_005273810.1:c.484A>C, XM_017017257.3:c.1006A>G, XM_017017257.3:c.1006A>C, XM_017017257.2:c.1006A>G, XM_017017257.2:c.1006A>C, XM_017017257.1:c.1006A>G, XM_017017257.1:c.1006A>C, XM_017017256.3:c.1009A>G, XM_017017256.3:c.1009A>C, XM_017017256.2:c.1009A>G, XM_017017256.2:c.1009A>C, XM_017017256.1:c.1009A>G, XM_017017256.1:c.1009A>C, XM_017017255.3:c.1009A>G, XM_017017255.3:c.1009A>C, XM_017017255.2:c.1009A>G, XM_017017255.2:c.1009A>C, XM_017017255.1:c.1009A>G, XM_017017255.1:c.1009A>C, XM_017017264.3:c.643A>G, XM_017017264.3:c.643A>C, XM_017017264.2:c.643A>G, XM_017017264.2:c.643A>C, XM_017017264.1:c.643A>G, XM_017017264.1:c.643A>C, XM_017017265.3:c.640A>G, XM_017017265.3:c.640A>C, XM_017017265.2:c.640A>G, XM_017017265.2:c.640A>C, XM_017017265.1:c.640A>G, XM_017017265.1:c.640A>C, XM_017017271.3:c.643A>G, XM_017017271.3:c.643A>C, XM_017017271.2:c.643A>G, XM_017017271.2:c.643A>C, XM_017017271.1:c.643A>G, XM_017017271.1:c.643A>C, XM_011544782.3:c.646A>G, XM_011544782.3:c.646A>C, XM_011544782.2:c.646A>G, XM_011544782.2:c.646A>C, XM_011544782.1:c.646A>G, XM_011544782.1:c.646A>C, XM_017017281.3:c.643A>G, XM_017017281.3:c.643A>C, XM_017017281.2:c.643A>G, XM_017017281.2:c.643A>C, XM_017017281.1:c.643A>G, XM_017017281.1:c.643A>C, XM_017017273.3:c.700A>G, XM_017017273.3:c.700A>C, XM_017017273.2:c.700A>G, XM_017017273.2:c.700A>C, XM_017017273.1:c.700A>G, XM_017017273.1:c.700A>C, XM_017017280.3:c.643A>G, XM_017017280.3:c.643A>C, XM_017017280.2:c.643A>G, XM_017017280.2:c.643A>C, XM_017017280.1:c.643A>G, XM_017017280.1:c.643A>C, XM_017017263.2:c.646A>G, XM_017017263.2:c.646A>C, XM_017017263.1:c.646A>G, XM_017017263.1:c.646A>C, XM_017017258.2:c.886A>G, XM_017017258.2:c.886A>C, XM_017017258.1:c.886A>G, XM_017017258.1:c.886A>C, XM_017017269.2:c.571A>G, XM_017017269.2:c.571A>C, XM_017017269.1:c.571A>G, XM_017017269.1:c.571A>C, XM_017017262.2:c.700A>G, XM_017017262.2:c.700A>C, XM_017017262.1:c.700A>G, XM_017017262.1:c.700A>C, XM_017017270.2:c.646A>G, XM_017017270.2:c.646A>C, XM_017017270.1:c.646A>G, XM_017017270.1:c.646A>C, XM_017017267.2:c.583A>G, XM_017017267.2:c.583A>C, XM_017017267.1:c.583A>G, XM_017017267.1:c.583A>C, XM_017017268.2:c.580A>G, XM_017017268.2:c.580A>C, XM_017017268.1:c.580A>G, XM_017017268.1:c.580A>C, XM_017017276.2:c.571A>G, XM_017017276.2:c.571A>C, XM_017017276.1:c.571A>G, XM_017017276.1:c.571A>C, XM_017017277.2:c.457A>G, XM_017017277.2:c.457A>C, XM_017017277.1:c.457A>G, XM_017017277.1:c.457A>C, XM_017017279.2:c.646A>G, XM_017017279.2:c.646A>C, XM_017017279.1:c.646A>G, XM_017017279.1:c.646A>C, XM_017017285.2:c.571A>G, XM_017017285.2:c.571A>C, XM_017017285.1:c.571A>G, XM_017017285.1:c.571A>C, XM_017017284.2:c.334A>G, XM_017017284.2:c.334A>C, XM_017017284.1:c.334A>G, XM_017017284.1:c.334A>C, XM_047426495.1:c.1048A>G, XM_047426495.1:c.1048A>C, XM_047426496.1:c.1048A>G, XM_047426496.1:c.1048A>C, XM_047426498.1:c.1048A>G, XM_047426498.1:c.1048A>C, XM_047426494.1:c.1048A>G, XM_047426494.1:c.1048A>C, XM_047426497.1:c.934A>G, XM_047426497.1:c.934A>C, XM_047426500.1:c.643A>G, XM_047426500.1:c.643A>C, XM_047426499.1:c.934A>G, XM_047426499.1:c.934A>C, XM_047426502.1:c.643A>G, XM_047426502.1:c.643A>C, XM_047426503.1:c.457A>G, XM_047426503.1:c.457A>C, XM_047426505.1:c.457A>G, XM_047426505.1:c.457A>C, XM_047426506.1:c.643A>G, XM_047426506.1:c.643A>C, NP_001136171.1:p.Lys300Glu, NP_001136171.1:p.Lys300Gln, NP_001355.2:p.Lys195Glu, NP_001355.2:p.Lys195Gln, NP_001338204.1:p.Lys311Glu, NP_001338204.1:p.Lys311Gln, NP_001338203.1:p.Lys312Glu, NP_001338203.1:p.Lys312Gln, NP_001338205.1:p.Lys214Glu, NP_001338205.1:p.Lys214Gln, NP_001193698.1:p.Lys234Glu, NP_001193698.1:p.Lys234Gln, NP_001136172.1:p.Lys144Glu, NP_001136172.1:p.Lys144Gln, NP_001364897.1:p.Lys195Glu, NP_001364897.1:p.Lys195Gln, NP_001364895.1:p.Lys234Glu, NP_001364895.1:p.Lys234Gln, NP_001364896.1:p.Lys234Glu, NP_001364896.1:p.Lys234Gln, NP_001287912.1:p.Lys195Glu, NP_001287912.1:p.Lys195Gln, NP_001364902.1:p.Lys153Glu, NP_001364902.1:p.Lys153Gln, NP_001364899.1:p.Lys234Glu, NP_001364899.1:p.Lys234Gln, NP_001364900.1:p.Lys234Glu, NP_001364900.1:p.Lys234Gln, NP_001364901.1:p.Lys162Glu, NP_001364901.1:p.Lys162Gln, NP_001364903.1:p.Lys162Glu, NP_001364903.1:p.Lys162Gln, NP_001364912.1:p.Lys234Glu, NP_001364912.1:p.Lys234Gln, NP_001364904.1:p.Lys162Glu, NP_001364904.1:p.Lys162Gln, XP_005273867.1:p.Lys162Glu, XP_005273867.1:p.Lys162Gln, XP_016872746.1:p.Lys336Glu, XP_016872746.1:p.Lys336Gln, XP_016872745.1:p.Lys337Glu, XP_016872745.1:p.Lys337Gln, XP_016872744.1:p.Lys337Glu, XP_016872744.1:p.Lys337Gln, XP_016872753.1:p.Lys215Glu, XP_016872753.1:p.Lys215Gln, XP_016872754.1:p.Lys214Glu, XP_016872754.1:p.Lys214Gln, XP_016872760.1:p.Lys215Glu, XP_016872760.1:p.Lys215Gln, XP_011543084.1:p.Lys216Glu, XP_011543084.1:p.Lys216Gln, XP_016872770.1:p.Lys215Glu, XP_016872770.1:p.Lys215Gln, XP_016872762.1:p.Lys234Glu, XP_016872762.1:p.Lys234Gln, XP_016872769.1:p.Lys215Glu, XP_016872769.1:p.Lys215Gln, XP_016872752.1:p.Lys216Glu, XP_016872752.1:p.Lys216Gln, XP_016872747.1:p.Lys296Glu, XP_016872747.1:p.Lys296Gln, XP_016872758.1:p.Lys191Glu, XP_016872758.1:p.Lys191Gln, XP_016872751.1:p.Lys234Glu, XP_016872751.1:p.Lys234Gln, XP_016872759.1:p.Lys216Glu, XP_016872759.1:p.Lys216Gln, XP_016872756.1:p.Lys195Glu, XP_016872756.1:p.Lys195Gln, XP_016872757.1:p.Lys194Glu, XP_016872757.1:p.Lys194Gln, XP_016872765.1:p.Lys191Glu, XP_016872765.1:p.Lys191Gln, XP_016872766.1:p.Lys153Glu, XP_016872766.1:p.Lys153Gln, XP_016872768.1:p.Lys216Glu, XP_016872768.1:p.Lys216Gln, XP_016872774.1:p.Lys191Glu, XP_016872774.1:p.Lys191Gln, XP_016872773.1:p.Lys112Glu, XP_016872773.1:p.Lys112Gln, XP_047282451.1:p.Lys350Glu, XP_047282451.1:p.Lys350Gln, XP_047282452.1:p.Lys350Glu, XP_047282452.1:p.Lys350Gln, XP_047282454.1:p.Lys350Glu, XP_047282454.1:p.Lys350Gln, XP_047282450.1:p.Lys350Glu, XP_047282450.1:p.Lys350Gln, XP_047282453.1:p.Lys312Glu, XP_047282453.1:p.Lys312Gln, XP_047282456.1:p.Lys215Glu, XP_047282456.1:p.Lys215Gln, XP_047282455.1:p.Lys312Glu, XP_047282455.1:p.Lys312Gln, XP_047282458.1:p.Lys215Glu, XP_047282458.1:p.Lys215Gln, XP_047282459.1:p.Lys153Glu, XP_047282459.1:p.Lys153Gln, XP_047282461.1:p.Lys153Glu, XP_047282461.1:p.Lys153Gln, XP_047282462.1:p.Lys215Glu, XP_047282462.1:p.Lys215Gln

                        12.

                        rs1477581405 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:83459827 (GRCh38)
                          11:83170870 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:83459826:T:C
                          Gene:
                          DLG2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.83459827T>C, NC_000011.9:g.83170870T>C, NG_021375.2:g.2173709A>G, NM_001142699.3:c.2919A>G, NM_001142699.2:c.2919A>G, NM_001142699.1:c.2919A>G, NM_001364.3:c.2604A>G, NM_001351275.2:c.2898A>G, NM_001351275.1:c.2898A>G, NM_001351274.2:c.2901A>G, NM_001351274.1:c.2901A>G, NM_001351276.2:c.2607A>G, NM_001351276.1:c.2607A>G, NM_001206769.2:c.2721A>G, NM_001206769.1:c.2721A>G, NM_001142700.2:c.2241A>G, NM_001142700.1:c.2241A>G, NM_001142702.2:c.996A>G, NM_001142702.1:c.996A>G, NM_001377968.1:c.2592A>G, NM_001377966.1:c.2703A>G, NM_001377967.1:c.2667A>G, NM_001300983.1:c.2550A>G, NM_001377973.1:c.2424A>G, NM_001377970.1:c.2565A>G, NM_001377971.1:c.2511A>G, NM_001377972.1:c.2451A>G, NR_165353.1:n.2379A>G, NM_001377974.1:c.2295A>G, NM_001377976.1:c.1083A>G, NM_001377978.1:c.1050A>G, NM_001377979.1:c.1038A>G, NM_001377980.1:c.978A>G, NM_001377981.1:c.945A>G, NM_001377977.1:c.1077A>G, NM_001377982.1:c.819A>G, XM_005273810.5:c.2505A>G, XM_005273810.4:c.2505A>G, XM_005273810.3:c.2505A>G, XM_005273810.2:c.2505A>G, XM_005273810.1:c.2505A>G, XM_017017257.3:c.3069A>G, XM_017017257.2:c.3069A>G, XM_017017257.1:c.3069A>G, XM_017017256.3:c.3072A>G, XM_017017256.2:c.3072A>G, XM_017017256.1:c.3072A>G, XM_017017255.3:c.3072A>G, XM_017017255.2:c.3072A>G, XM_017017255.1:c.3072A>G, XM_017017264.3:c.2706A>G, XM_017017264.2:c.2706A>G, XM_017017264.1:c.2706A>G, XM_017017265.3:c.2703A>G, XM_017017265.2:c.2703A>G, XM_017017265.1:c.2703A>G, XM_017017271.3:c.2610A>G, XM_017017271.2:c.2610A>G, XM_017017271.1:c.2610A>G, XM_011544782.3:c.2667A>G, XM_011544782.2:c.2667A>G, XM_011544782.1:c.2667A>G, XM_017017281.3:c.2454A>G, XM_017017281.2:c.2454A>G, XM_017017281.1:c.2454A>G, XM_017017273.3:c.2607A>G, XM_017017273.2:c.2607A>G, XM_017017273.1:c.2607A>G, XM_017017280.3:c.2454A>G, XM_017017280.2:c.2454A>G, XM_017017280.1:c.2454A>G, XM_017017263.2:c.2709A>G, XM_017017263.1:c.2709A>G, XM_017017258.2:c.2949A>G, XM_017017258.1:c.2949A>G, XM_017017269.2:c.2634A>G, XM_017017269.1:c.2634A>G, XM_017017262.2:c.2763A>G, XM_017017262.1:c.2763A>G, XM_017017270.2:c.2613A>G, XM_017017270.1:c.2613A>G, XM_017017267.2:c.2646A>G, XM_017017267.1:c.2646A>G, XM_017017268.2:c.2643A>G, XM_017017268.1:c.2643A>G, XM_017017276.2:c.2538A>G, XM_017017276.1:c.2538A>G, XM_017017277.2:c.2520A>G, XM_017017277.1:c.2520A>G, XM_017017279.2:c.2457A>G, XM_017017279.1:c.2457A>G, XM_017017285.2:c.2382A>G, XM_017017285.1:c.2382A>G, XM_017017284.2:c.2397A>G, XM_017017284.1:c.2397A>G, XM_017017287.2:c.1248A>G, XM_017017287.1:c.1248A>G, XM_017017290.2:c.1092A>G, XM_017017290.1:c.1092A>G, XM_017017289.2:c.1173A>G, XM_017017289.1:c.1173A>G, XM_047426495.1:c.3069A>G, XM_047426496.1:c.3015A>G, XM_047426498.1:c.2859A>G, XM_047426494.1:c.3111A>G, XM_047426497.1:c.2997A>G, XM_047426500.1:c.2664A>G, XM_047426499.1:c.2841A>G, XM_047426502.1:c.2508A>G, XM_047426503.1:c.2478A>G, XM_047426505.1:c.2322A>G

                          13.

                          rs1474356341 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:83980508 (GRCh38)
                            11:83691551 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:83980507:T:C
                            Gene:
                            DLG2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.83980508T>C, NC_000011.9:g.83691551T>C, NG_021375.2:g.1653028A>G, NM_001142699.3:c.1054A>G, NM_001142699.2:c.1054A>G, NM_001142699.1:c.1054A>G, NM_001364.3:c.739A>G, NM_001351275.2:c.1087A>G, NM_001351275.1:c.1087A>G, NM_001351274.2:c.1090A>G, NM_001351274.1:c.1090A>G, NM_001351276.2:c.796A>G, NM_001351276.1:c.796A>G, NM_001206769.2:c.856A>G, NM_001206769.1:c.856A>G, NM_001142700.2:c.586A>G, NM_001142700.1:c.586A>G, NM_001377968.1:c.739A>G, NM_001377966.1:c.856A>G, NM_001377967.1:c.856A>G, NM_001300983.1:c.739A>G, NM_001377973.1:c.613A>G, NM_001377970.1:c.856A>G, NM_001377971.1:c.856A>G, NM_001377972.1:c.640A>G, NR_165353.1:n.665A>G, NM_001377974.1:c.640A>G, NM_001377975.1:c.640A>G, XM_005273810.5:c.640A>G, XM_005273810.4:c.640A>G, XM_005273810.3:c.640A>G, XM_005273810.2:c.640A>G, XM_005273810.1:c.640A>G, XM_017017257.3:c.1162A>G, XM_017017257.2:c.1162A>G, XM_017017257.1:c.1162A>G, XM_017017256.3:c.1165A>G, XM_017017256.2:c.1165A>G, XM_017017256.1:c.1165A>G, XM_017017255.3:c.1165A>G, XM_017017255.2:c.1165A>G, XM_017017255.1:c.1165A>G, XM_017017264.3:c.799A>G, XM_017017264.2:c.799A>G, XM_017017264.1:c.799A>G, XM_017017265.3:c.796A>G, XM_017017265.2:c.796A>G, XM_017017265.1:c.796A>G, XM_017017271.3:c.799A>G, XM_017017271.2:c.799A>G, XM_017017271.1:c.799A>G, XM_011544782.3:c.802A>G, XM_011544782.2:c.802A>G, XM_011544782.1:c.802A>G, XM_017017281.3:c.799A>G, XM_017017281.2:c.799A>G, XM_017017281.1:c.799A>G, XM_017017273.3:c.856A>G, XM_017017273.2:c.856A>G, XM_017017273.1:c.856A>G, XM_017017280.3:c.799A>G, XM_017017280.2:c.799A>G, XM_017017280.1:c.799A>G, XM_017017263.2:c.802A>G, XM_017017263.1:c.802A>G, XM_017017258.2:c.1042A>G, XM_017017258.1:c.1042A>G, XM_017017269.2:c.727A>G, XM_017017269.1:c.727A>G, XM_017017262.2:c.856A>G, XM_017017262.1:c.856A>G, XM_017017270.2:c.802A>G, XM_017017270.1:c.802A>G, XM_017017267.2:c.739A>G, XM_017017267.1:c.739A>G, XM_017017268.2:c.736A>G, XM_017017268.1:c.736A>G, XM_017017276.2:c.727A>G, XM_017017276.1:c.727A>G, XM_017017277.2:c.613A>G, XM_017017277.1:c.613A>G, XM_017017279.2:c.802A>G, XM_017017279.1:c.802A>G, XM_017017285.2:c.727A>G, XM_017017285.1:c.727A>G, XM_017017284.2:c.490A>G, XM_017017284.1:c.490A>G, XM_047426495.1:c.1204A>G, XM_047426496.1:c.1204A>G, XM_047426498.1:c.1204A>G, XM_047426494.1:c.1204A>G, XM_047426497.1:c.1090A>G, XM_047426500.1:c.799A>G, XM_047426499.1:c.1090A>G, XM_047426502.1:c.799A>G, XM_047426503.1:c.613A>G, XM_047426505.1:c.613A>G, XM_047426506.1:c.799A>G, NP_001136171.1:p.Met352Val, NP_001355.2:p.Met247Val, NP_001338204.1:p.Met363Val, NP_001338203.1:p.Met364Val, NP_001338205.1:p.Met266Val, NP_001193698.1:p.Met286Val, NP_001136172.1:p.Met196Val, NP_001364897.1:p.Met247Val, NP_001364895.1:p.Met286Val, NP_001364896.1:p.Met286Val, NP_001287912.1:p.Met247Val, NP_001364902.1:p.Met205Val, NP_001364899.1:p.Met286Val, NP_001364900.1:p.Met286Val, NP_001364901.1:p.Met214Val, NP_001364903.1:p.Met214Val, NP_001364904.1:p.Met214Val, XP_005273867.1:p.Met214Val, XP_016872746.1:p.Met388Val, XP_016872745.1:p.Met389Val, XP_016872744.1:p.Met389Val, XP_016872753.1:p.Met267Val, XP_016872754.1:p.Met266Val, XP_016872760.1:p.Met267Val, XP_011543084.1:p.Met268Val, XP_016872770.1:p.Met267Val, XP_016872762.1:p.Met286Val, XP_016872769.1:p.Met267Val, XP_016872752.1:p.Met268Val, XP_016872747.1:p.Met348Val, XP_016872758.1:p.Met243Val, XP_016872751.1:p.Met286Val, XP_016872759.1:p.Met268Val, XP_016872756.1:p.Met247Val, XP_016872757.1:p.Met246Val, XP_016872765.1:p.Met243Val, XP_016872766.1:p.Met205Val, XP_016872768.1:p.Met268Val, XP_016872774.1:p.Met243Val, XP_016872773.1:p.Met164Val, XP_047282451.1:p.Met402Val, XP_047282452.1:p.Met402Val, XP_047282454.1:p.Met402Val, XP_047282450.1:p.Met402Val, XP_047282453.1:p.Met364Val, XP_047282456.1:p.Met267Val, XP_047282455.1:p.Met364Val, XP_047282458.1:p.Met267Val, XP_047282459.1:p.Met205Val, XP_047282461.1:p.Met205Val, XP_047282462.1:p.Met267Val

                            14.

                            rs1473853552 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              11:83965362 (GRCh38)
                              11:83676405 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:83965361:T:G
                              Gene:
                              DLG2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000224/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000223/1 (Estonian)
                              HGVS:
                              NC_000011.10:g.83965362T>G, NC_000011.9:g.83676405T>G, NG_021375.2:g.1668174A>C, NM_001142699.3:c.1163A>C, NM_001142699.2:c.1163A>C, NM_001142699.1:c.1163A>C, NM_001364.3:c.848A>C, NM_001351275.2:c.1196A>C, NM_001351275.1:c.1196A>C, NM_001351274.2:c.1199A>C, NM_001351274.1:c.1199A>C, NM_001351276.2:c.905A>C, NM_001351276.1:c.905A>C, NM_001206769.2:c.965A>C, NM_001206769.1:c.965A>C, NM_001142700.2:c.695A>C, NM_001142700.1:c.695A>C, NM_001377968.1:c.848A>C, NM_001377966.1:c.965A>C, NM_001377967.1:c.965A>C, NM_001300983.1:c.848A>C, NM_001377973.1:c.722A>C, NM_001377970.1:c.965A>C, NM_001377971.1:c.965A>C, NM_001377972.1:c.749A>C, NR_165353.1:n.774A>C, NM_001377974.1:c.749A>C, NM_001377975.1:c.749A>C, XM_005273810.5:c.749A>C, XM_005273810.4:c.749A>C, XM_005273810.3:c.749A>C, XM_005273810.2:c.749A>C, XM_005273810.1:c.749A>C, XM_017017257.3:c.1271A>C, XM_017017257.2:c.1271A>C, XM_017017257.1:c.1271A>C, XM_017017256.3:c.1274A>C, XM_017017256.2:c.1274A>C, XM_017017256.1:c.1274A>C, XM_017017255.3:c.1274A>C, XM_017017255.2:c.1274A>C, XM_017017255.1:c.1274A>C, XM_017017264.3:c.908A>C, XM_017017264.2:c.908A>C, XM_017017264.1:c.908A>C, XM_017017265.3:c.905A>C, XM_017017265.2:c.905A>C, XM_017017265.1:c.905A>C, XM_017017271.3:c.908A>C, XM_017017271.2:c.908A>C, XM_017017271.1:c.908A>C, XM_011544782.3:c.911A>C, XM_011544782.2:c.911A>C, XM_011544782.1:c.911A>C, XM_017017281.3:c.908A>C, XM_017017281.2:c.908A>C, XM_017017281.1:c.908A>C, XM_017017273.3:c.965A>C, XM_017017273.2:c.965A>C, XM_017017273.1:c.965A>C, XM_017017280.3:c.908A>C, XM_017017280.2:c.908A>C, XM_017017280.1:c.908A>C, XM_017017263.2:c.911A>C, XM_017017263.1:c.911A>C, XM_017017258.2:c.1151A>C, XM_017017258.1:c.1151A>C, XM_017017269.2:c.836A>C, XM_017017269.1:c.836A>C, XM_017017262.2:c.965A>C, XM_017017262.1:c.965A>C, XM_017017270.2:c.911A>C, XM_017017270.1:c.911A>C, XM_017017267.2:c.848A>C, XM_017017267.1:c.848A>C, XM_017017268.2:c.845A>C, XM_017017268.1:c.845A>C, XM_017017276.2:c.836A>C, XM_017017276.1:c.836A>C, XM_017017277.2:c.722A>C, XM_017017277.1:c.722A>C, XM_017017279.2:c.911A>C, XM_017017279.1:c.911A>C, XM_017017285.2:c.836A>C, XM_017017285.1:c.836A>C, XM_017017284.2:c.599A>C, XM_017017284.1:c.599A>C, XM_047426495.1:c.1313A>C, XM_047426496.1:c.1313A>C, XM_047426498.1:c.1313A>C, XM_047426494.1:c.1313A>C, XM_047426497.1:c.1199A>C, XM_047426500.1:c.908A>C, XM_047426499.1:c.1199A>C, XM_047426502.1:c.908A>C, XM_047426503.1:c.722A>C, XM_047426505.1:c.722A>C, XM_047426506.1:c.908A>C, NP_001136171.1:p.Tyr388Ser, NP_001355.2:p.Tyr283Ser, NP_001338204.1:p.Tyr399Ser, NP_001338203.1:p.Tyr400Ser, NP_001338205.1:p.Tyr302Ser, NP_001193698.1:p.Tyr322Ser, NP_001136172.1:p.Tyr232Ser, NP_001364897.1:p.Tyr283Ser, NP_001364895.1:p.Tyr322Ser, NP_001364896.1:p.Tyr322Ser, NP_001287912.1:p.Tyr283Ser, NP_001364902.1:p.Tyr241Ser, NP_001364899.1:p.Tyr322Ser, NP_001364900.1:p.Tyr322Ser, NP_001364901.1:p.Tyr250Ser, NP_001364903.1:p.Tyr250Ser, NP_001364904.1:p.Tyr250Ser, XP_005273867.1:p.Tyr250Ser, XP_016872746.1:p.Tyr424Ser, XP_016872745.1:p.Tyr425Ser, XP_016872744.1:p.Tyr425Ser, XP_016872753.1:p.Tyr303Ser, XP_016872754.1:p.Tyr302Ser, XP_016872760.1:p.Tyr303Ser, XP_011543084.1:p.Tyr304Ser, XP_016872770.1:p.Tyr303Ser, XP_016872762.1:p.Tyr322Ser, XP_016872769.1:p.Tyr303Ser, XP_016872752.1:p.Tyr304Ser, XP_016872747.1:p.Tyr384Ser, XP_016872758.1:p.Tyr279Ser, XP_016872751.1:p.Tyr322Ser, XP_016872759.1:p.Tyr304Ser, XP_016872756.1:p.Tyr283Ser, XP_016872757.1:p.Tyr282Ser, XP_016872765.1:p.Tyr279Ser, XP_016872766.1:p.Tyr241Ser, XP_016872768.1:p.Tyr304Ser, XP_016872774.1:p.Tyr279Ser, XP_016872773.1:p.Tyr200Ser, XP_047282451.1:p.Tyr438Ser, XP_047282452.1:p.Tyr438Ser, XP_047282454.1:p.Tyr438Ser, XP_047282450.1:p.Tyr438Ser, XP_047282453.1:p.Tyr400Ser, XP_047282456.1:p.Tyr303Ser, XP_047282455.1:p.Tyr400Ser, XP_047282458.1:p.Tyr303Ser, XP_047282459.1:p.Tyr241Ser, XP_047282461.1:p.Tyr241Ser, XP_047282462.1:p.Tyr303Ser

                              15.

                              rs1473132739 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                11:83466726 (GRCh38)
                                11:83177769 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:83466725:C:G
                                Gene:
                                DLG2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.83466726C>G, NC_000011.9:g.83177769C>G, NG_021375.2:g.2166810G>C, NM_001142699.3:c.2711G>C, NM_001142699.2:c.2711G>C, NM_001142699.1:c.2711G>C, NM_001364.3:c.2396G>C, NM_001351275.2:c.2690G>C, NM_001351275.1:c.2690G>C, NM_001351274.2:c.2693G>C, NM_001351274.1:c.2693G>C, NM_001351276.2:c.2399G>C, NM_001351276.1:c.2399G>C, NM_001206769.2:c.2513G>C, NM_001206769.1:c.2513G>C, NM_001142700.2:c.2033G>C, NM_001142700.1:c.2033G>C, NM_001142702.2:c.788G>C, NM_001142702.1:c.788G>C, NM_001377968.1:c.2384G>C, NM_001377966.1:c.2513G>C, NM_001377967.1:c.2459G>C, NM_001300983.1:c.2342G>C, NM_001377973.1:c.2216G>C, NM_001377970.1:c.2357G>C, NM_001377971.1:c.2303G>C, NM_001377972.1:c.2243G>C, NR_165353.1:n.2171G>C, NM_001377974.1:c.2087G>C, NM_001377976.1:c.875G>C, NM_001377978.1:c.842G>C, NM_001377979.1:c.830G>C, NM_001377980.1:c.788G>C, NM_001377981.1:c.737G>C, NM_001377977.1:c.869G>C, NM_001377982.1:c.611G>C, XM_005273810.5:c.2297G>C, XM_005273810.4:c.2297G>C, XM_005273810.3:c.2297G>C, XM_005273810.2:c.2297G>C, XM_005273810.1:c.2297G>C, XM_017017257.3:c.2861G>C, XM_017017257.2:c.2861G>C, XM_017017257.1:c.2861G>C, XM_017017256.3:c.2864G>C, XM_017017256.2:c.2864G>C, XM_017017256.1:c.2864G>C, XM_017017255.3:c.2864G>C, XM_017017255.2:c.2864G>C, XM_017017255.1:c.2864G>C, XM_017017264.3:c.2498G>C, XM_017017264.2:c.2498G>C, XM_017017264.1:c.2498G>C, XM_017017265.3:c.2495G>C, XM_017017265.2:c.2495G>C, XM_017017265.1:c.2495G>C, XM_017017271.3:c.2402G>C, XM_017017271.2:c.2402G>C, XM_017017271.1:c.2402G>C, XM_011544782.3:c.2459G>C, XM_011544782.2:c.2459G>C, XM_011544782.1:c.2459G>C, XM_017017281.3:c.2246G>C, XM_017017281.2:c.2246G>C, XM_017017281.1:c.2246G>C, XM_017017273.3:c.2399G>C, XM_017017273.2:c.2399G>C, XM_017017273.1:c.2399G>C, XM_017017280.3:c.2246G>C, XM_017017280.2:c.2246G>C, XM_017017280.1:c.2246G>C, XM_017017263.2:c.2501G>C, XM_017017263.1:c.2501G>C, XM_017017258.2:c.2741G>C, XM_017017258.1:c.2741G>C, XM_017017269.2:c.2426G>C, XM_017017269.1:c.2426G>C, XM_017017262.2:c.2555G>C, XM_017017262.1:c.2555G>C, XM_017017270.2:c.2405G>C, XM_017017270.1:c.2405G>C, XM_017017267.2:c.2438G>C, XM_017017267.1:c.2438G>C, XM_017017268.2:c.2435G>C, XM_017017268.1:c.2435G>C, XM_017017276.2:c.2330G>C, XM_017017276.1:c.2330G>C, XM_017017277.2:c.2312G>C, XM_017017277.1:c.2312G>C, XM_017017279.2:c.2249G>C, XM_017017279.1:c.2249G>C, XM_017017285.2:c.2174G>C, XM_017017285.1:c.2174G>C, XM_017017284.2:c.2189G>C, XM_017017284.1:c.2189G>C, XM_017017287.2:c.1040G>C, XM_017017287.1:c.1040G>C, XM_017017290.2:c.884G>C, XM_017017290.1:c.884G>C, XM_017017289.2:c.965G>C, XM_017017289.1:c.965G>C, XM_047426495.1:c.2861G>C, XM_047426496.1:c.2807G>C, XM_047426498.1:c.2651G>C, XM_047426494.1:c.2903G>C, XM_047426497.1:c.2789G>C, XM_047426500.1:c.2456G>C, XM_047426499.1:c.2633G>C, XM_047426502.1:c.2300G>C, XM_047426503.1:c.2270G>C, XM_047426505.1:c.2114G>C, NP_001136171.1:p.Arg904Thr, NP_001355.2:p.Arg799Thr, NP_001338204.1:p.Arg897Thr, NP_001338203.1:p.Arg898Thr, NP_001338205.1:p.Arg800Thr, NP_001193698.1:p.Arg838Thr, NP_001136172.1:p.Arg678Thr, NP_001136174.1:p.Arg263Thr, NP_001364897.1:p.Arg795Thr, NP_001364895.1:p.Arg838Thr, NP_001364896.1:p.Arg820Thr, NP_001287912.1:p.Arg781Thr, NP_001364902.1:p.Arg739Thr, NP_001364899.1:p.Arg786Thr, NP_001364900.1:p.Arg768Thr, NP_001364901.1:p.Arg748Thr, NP_001364903.1:p.Arg696Thr, NP_001364905.1:p.Arg292Thr, NP_001364907.1:p.Arg281Thr, NP_001364908.1:p.Arg277Thr, NP_001364909.1:p.Arg263Thr, NP_001364910.1:p.Arg246Thr, NP_001364906.1:p.Arg290Thr, NP_001364911.1:p.Arg204Thr, XP_005273867.1:p.Arg766Thr, XP_016872746.1:p.Arg954Thr, XP_016872745.1:p.Arg955Thr, XP_016872744.1:p.Arg955Thr, XP_016872753.1:p.Arg833Thr, XP_016872754.1:p.Arg832Thr, XP_016872760.1:p.Arg801Thr, XP_011543084.1:p.Arg820Thr, XP_016872770.1:p.Arg749Thr, XP_016872762.1:p.Arg800Thr, XP_016872769.1:p.Arg749Thr, XP_016872752.1:p.Arg834Thr, XP_016872747.1:p.Arg914Thr, XP_016872758.1:p.Arg809Thr, XP_016872751.1:p.Arg852Thr, XP_016872759.1:p.Arg802Thr, XP_016872756.1:p.Arg813Thr, XP_016872757.1:p.Arg812Thr, XP_016872765.1:p.Arg777Thr, XP_016872766.1:p.Arg771Thr, XP_016872768.1:p.Arg750Thr, XP_016872774.1:p.Arg725Thr, XP_016872773.1:p.Arg730Thr, XP_016872776.1:p.Arg347Thr, XP_016872779.1:p.Arg295Thr, XP_016872778.1:p.Arg322Thr, XP_047282451.1:p.Arg954Thr, XP_047282452.1:p.Arg936Thr, XP_047282454.1:p.Arg884Thr, XP_047282450.1:p.Arg968Thr, XP_047282453.1:p.Arg930Thr, XP_047282456.1:p.Arg819Thr, XP_047282455.1:p.Arg878Thr, XP_047282458.1:p.Arg767Thr, XP_047282459.1:p.Arg757Thr, XP_047282461.1:p.Arg705Thr

                                16.

                                rs1472622042 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:84534660 (GRCh38)
                                  11:84245703 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:84534659:G:T
                                  Gene:
                                  DLG2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.84534660G>T, NC_000011.9:g.84245703G>T, NG_021375.2:g.1098876C>A, NM_001142699.3:c.429C>A, NM_001142699.2:c.429C>A, NM_001142699.1:c.429C>A, NM_001364.3:c.114C>A, NM_001351275.2:c.462C>A, NM_001351275.1:c.462C>A, NM_001351274.2:c.465C>A, NM_001351274.1:c.465C>A, NM_001351276.2:c.171C>A, NM_001351276.1:c.171C>A, NM_001377968.1:c.114C>A, NM_001300983.1:c.114C>A, XM_017017257.3:c.537C>A, XM_017017257.2:c.537C>A, XM_017017257.1:c.537C>A, XM_017017256.3:c.540C>A, XM_017017256.2:c.540C>A, XM_017017256.1:c.540C>A, XM_017017255.3:c.540C>A, XM_017017255.2:c.540C>A, XM_017017255.1:c.540C>A, XM_017017264.3:c.174C>A, XM_017017264.2:c.174C>A, XM_017017264.1:c.174C>A, XM_017017265.3:c.171C>A, XM_017017265.2:c.171C>A, XM_017017265.1:c.171C>A, XM_017017271.3:c.174C>A, XM_017017271.2:c.174C>A, XM_017017271.1:c.174C>A, XM_011544782.3:c.177C>A, XM_011544782.2:c.177C>A, XM_011544782.1:c.177C>A, XM_017017281.3:c.174C>A, XM_017017281.2:c.174C>A, XM_017017281.1:c.174C>A, XM_017017280.3:c.174C>A, XM_017017280.2:c.174C>A, XM_017017280.1:c.174C>A, XM_017017263.2:c.177C>A, XM_017017263.1:c.177C>A, XM_017017258.2:c.417C>A, XM_017017258.1:c.417C>A, XM_017017269.2:c.102C>A, XM_017017269.1:c.102C>A, XM_017017270.2:c.177C>A, XM_017017270.1:c.177C>A, XM_017017267.2:c.114C>A, XM_017017267.1:c.114C>A, XM_017017268.2:c.111C>A, XM_017017268.1:c.111C>A, XM_017017276.2:c.102C>A, XM_017017276.1:c.102C>A, XM_017017279.2:c.177C>A, XM_017017279.1:c.177C>A, XM_017017285.2:c.102C>A, XM_017017285.1:c.102C>A, XM_047426495.1:c.579C>A, XM_047426496.1:c.579C>A, XM_047426498.1:c.579C>A, XM_047426494.1:c.579C>A, XM_047426497.1:c.465C>A, XM_047426500.1:c.174C>A, XM_047426499.1:c.465C>A, XM_047426502.1:c.174C>A, XM_047426506.1:c.174C>A

                                  17.

                                  rs1466460809 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:83462085 (GRCh38)
                                    11:83173128 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:83462084:T:C
                                    Gene:
                                    DLG2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.83462085T>C, NC_000011.9:g.83173128T>C, NG_021375.2:g.2171451A>G, NM_001142699.3:c.2738A>G, NM_001142699.2:c.2738A>G, NM_001142699.1:c.2738A>G, NM_001364.3:c.2423A>G, NM_001351275.2:c.2717A>G, NM_001351275.1:c.2717A>G, NM_001351274.2:c.2720A>G, NM_001351274.1:c.2720A>G, NM_001351276.2:c.2426A>G, NM_001351276.1:c.2426A>G, NM_001206769.2:c.2540A>G, NM_001206769.1:c.2540A>G, NM_001142700.2:c.2060A>G, NM_001142700.1:c.2060A>G, NM_001142702.2:c.815A>G, NM_001142702.1:c.815A>G, NM_001377968.1:c.2411A>G, NM_001377966.1:c.2522A>G, NM_001377967.1:c.2486A>G, NM_001300983.1:c.2369A>G, NM_001377973.1:c.2243A>G, NM_001377970.1:c.2384A>G, NM_001377971.1:c.2330A>G, NM_001377972.1:c.2270A>G, NR_165353.1:n.2198A>G, NM_001377974.1:c.2114A>G, NM_001377976.1:c.902A>G, NM_001377978.1:c.869A>G, NM_001377979.1:c.857A>G, NM_001377980.1:c.797A>G, NM_001377981.1:c.764A>G, NM_001377977.1:c.896A>G, NM_001377982.1:c.638A>G, XM_005273810.5:c.2324A>G, XM_005273810.4:c.2324A>G, XM_005273810.3:c.2324A>G, XM_005273810.2:c.2324A>G, XM_005273810.1:c.2324A>G, XM_017017257.3:c.2888A>G, XM_017017257.2:c.2888A>G, XM_017017257.1:c.2888A>G, XM_017017256.3:c.2891A>G, XM_017017256.2:c.2891A>G, XM_017017256.1:c.2891A>G, XM_017017255.3:c.2891A>G, XM_017017255.2:c.2891A>G, XM_017017255.1:c.2891A>G, XM_017017264.3:c.2525A>G, XM_017017264.2:c.2525A>G, XM_017017264.1:c.2525A>G, XM_017017265.3:c.2522A>G, XM_017017265.2:c.2522A>G, XM_017017265.1:c.2522A>G, XM_017017271.3:c.2429A>G, XM_017017271.2:c.2429A>G, XM_017017271.1:c.2429A>G, XM_011544782.3:c.2486A>G, XM_011544782.2:c.2486A>G, XM_011544782.1:c.2486A>G, XM_017017281.3:c.2273A>G, XM_017017281.2:c.2273A>G, XM_017017281.1:c.2273A>G, XM_017017273.3:c.2426A>G, XM_017017273.2:c.2426A>G, XM_017017273.1:c.2426A>G, XM_017017280.3:c.2273A>G, XM_017017280.2:c.2273A>G, XM_017017280.1:c.2273A>G, XM_017017263.2:c.2528A>G, XM_017017263.1:c.2528A>G, XM_017017258.2:c.2768A>G, XM_017017258.1:c.2768A>G, XM_017017269.2:c.2453A>G, XM_017017269.1:c.2453A>G, XM_017017262.2:c.2582A>G, XM_017017262.1:c.2582A>G, XM_017017270.2:c.2432A>G, XM_017017270.1:c.2432A>G, XM_017017267.2:c.2465A>G, XM_017017267.1:c.2465A>G, XM_017017268.2:c.2462A>G, XM_017017268.1:c.2462A>G, XM_017017276.2:c.2357A>G, XM_017017276.1:c.2357A>G, XM_017017277.2:c.2339A>G, XM_017017277.1:c.2339A>G, XM_017017279.2:c.2276A>G, XM_017017279.1:c.2276A>G, XM_017017285.2:c.2201A>G, XM_017017285.1:c.2201A>G, XM_017017284.2:c.2216A>G, XM_017017284.1:c.2216A>G, XM_017017287.2:c.1067A>G, XM_017017287.1:c.1067A>G, XM_017017290.2:c.911A>G, XM_017017290.1:c.911A>G, XM_017017289.2:c.992A>G, XM_017017289.1:c.992A>G, XM_047426495.1:c.2888A>G, XM_047426496.1:c.2834A>G, XM_047426498.1:c.2678A>G, XM_047426494.1:c.2930A>G, XM_047426497.1:c.2816A>G, XM_047426500.1:c.2483A>G, XM_047426499.1:c.2660A>G, XM_047426502.1:c.2327A>G, XM_047426503.1:c.2297A>G, XM_047426505.1:c.2141A>G, NP_001136171.1:p.Asn913Ser, NP_001355.2:p.Asn808Ser, NP_001338204.1:p.Asn906Ser, NP_001338203.1:p.Asn907Ser, NP_001338205.1:p.Asn809Ser, NP_001193698.1:p.Asn847Ser, NP_001136172.1:p.Asn687Ser, NP_001136174.1:p.Asn272Ser, NP_001364897.1:p.Asn804Ser, NP_001364895.1:p.Asn841Ser, NP_001364896.1:p.Asn829Ser, NP_001287912.1:p.Asn790Ser, NP_001364902.1:p.Asn748Ser, NP_001364899.1:p.Asn795Ser, NP_001364900.1:p.Asn777Ser, NP_001364901.1:p.Asn757Ser, NP_001364903.1:p.Asn705Ser, NP_001364905.1:p.Asn301Ser, NP_001364907.1:p.Asn290Ser, NP_001364908.1:p.Asn286Ser, NP_001364909.1:p.Asn266Ser, NP_001364910.1:p.Asn255Ser, NP_001364906.1:p.Asn299Ser, NP_001364911.1:p.Asn213Ser, XP_005273867.1:p.Asn775Ser, XP_016872746.1:p.Asn963Ser, XP_016872745.1:p.Asn964Ser, XP_016872744.1:p.Asn964Ser, XP_016872753.1:p.Asn842Ser, XP_016872754.1:p.Asn841Ser, XP_016872760.1:p.Asn810Ser, XP_011543084.1:p.Asn829Ser, XP_016872770.1:p.Asn758Ser, XP_016872762.1:p.Asn809Ser, XP_016872769.1:p.Asn758Ser, XP_016872752.1:p.Asn843Ser, XP_016872747.1:p.Asn923Ser, XP_016872758.1:p.Asn818Ser, XP_016872751.1:p.Asn861Ser, XP_016872759.1:p.Asn811Ser, XP_016872756.1:p.Asn822Ser, XP_016872757.1:p.Asn821Ser, XP_016872765.1:p.Asn786Ser, XP_016872766.1:p.Asn780Ser, XP_016872768.1:p.Asn759Ser, XP_016872774.1:p.Asn734Ser, XP_016872773.1:p.Asn739Ser, XP_016872776.1:p.Asn356Ser, XP_016872779.1:p.Asn304Ser, XP_016872778.1:p.Asn331Ser, XP_047282451.1:p.Asn963Ser, XP_047282452.1:p.Asn945Ser, XP_047282454.1:p.Asn893Ser, XP_047282450.1:p.Asn977Ser, XP_047282453.1:p.Asn939Ser, XP_047282456.1:p.Asn828Ser, XP_047282455.1:p.Asn887Ser, XP_047282458.1:p.Asn776Ser, XP_047282459.1:p.Asn766Ser, XP_047282461.1:p.Asn714Ser

                                    18.

                                    rs1464206590 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:83466742 (GRCh38)
                                      11:83177785 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:83466741:T:C
                                      Gene:
                                      DLG2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000047/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.83466742T>C, NC_000011.9:g.83177785T>C, NG_021375.2:g.2166794A>G, NM_001142699.3:c.2695A>G, NM_001142699.2:c.2695A>G, NM_001142699.1:c.2695A>G, NM_001364.3:c.2380A>G, NM_001351275.2:c.2674A>G, NM_001351275.1:c.2674A>G, NM_001351274.2:c.2677A>G, NM_001351274.1:c.2677A>G, NM_001351276.2:c.2383A>G, NM_001351276.1:c.2383A>G, NM_001206769.2:c.2497A>G, NM_001206769.1:c.2497A>G, NM_001142700.2:c.2017A>G, NM_001142700.1:c.2017A>G, NM_001142702.2:c.772A>G, NM_001142702.1:c.772A>G, NM_001377968.1:c.2368A>G, NM_001377966.1:c.2497A>G, NM_001377967.1:c.2443A>G, NM_001300983.1:c.2326A>G, NM_001377973.1:c.2200A>G, NM_001377970.1:c.2341A>G, NM_001377971.1:c.2287A>G, NM_001377972.1:c.2227A>G, NR_165353.1:n.2155A>G, NM_001377974.1:c.2071A>G, NM_001377976.1:c.859A>G, NM_001377978.1:c.826A>G, NM_001377979.1:c.814A>G, NM_001377980.1:c.772A>G, NM_001377981.1:c.721A>G, NM_001377977.1:c.853A>G, NM_001377982.1:c.595A>G, XM_005273810.5:c.2281A>G, XM_005273810.4:c.2281A>G, XM_005273810.3:c.2281A>G, XM_005273810.2:c.2281A>G, XM_005273810.1:c.2281A>G, XM_017017257.3:c.2845A>G, XM_017017257.2:c.2845A>G, XM_017017257.1:c.2845A>G, XM_017017256.3:c.2848A>G, XM_017017256.2:c.2848A>G, XM_017017256.1:c.2848A>G, XM_017017255.3:c.2848A>G, XM_017017255.2:c.2848A>G, XM_017017255.1:c.2848A>G, XM_017017264.3:c.2482A>G, XM_017017264.2:c.2482A>G, XM_017017264.1:c.2482A>G, XM_017017265.3:c.2479A>G, XM_017017265.2:c.2479A>G, XM_017017265.1:c.2479A>G, XM_017017271.3:c.2386A>G, XM_017017271.2:c.2386A>G, XM_017017271.1:c.2386A>G, XM_011544782.3:c.2443A>G, XM_011544782.2:c.2443A>G, XM_011544782.1:c.2443A>G, XM_017017281.3:c.2230A>G, XM_017017281.2:c.2230A>G, XM_017017281.1:c.2230A>G, XM_017017273.3:c.2383A>G, XM_017017273.2:c.2383A>G, XM_017017273.1:c.2383A>G, XM_017017280.3:c.2230A>G, XM_017017280.2:c.2230A>G, XM_017017280.1:c.2230A>G, XM_017017263.2:c.2485A>G, XM_017017263.1:c.2485A>G, XM_017017258.2:c.2725A>G, XM_017017258.1:c.2725A>G, XM_017017269.2:c.2410A>G, XM_017017269.1:c.2410A>G, XM_017017262.2:c.2539A>G, XM_017017262.1:c.2539A>G, XM_017017270.2:c.2389A>G, XM_017017270.1:c.2389A>G, XM_017017267.2:c.2422A>G, XM_017017267.1:c.2422A>G, XM_017017268.2:c.2419A>G, XM_017017268.1:c.2419A>G, XM_017017276.2:c.2314A>G, XM_017017276.1:c.2314A>G, XM_017017277.2:c.2296A>G, XM_017017277.1:c.2296A>G, XM_017017279.2:c.2233A>G, XM_017017279.1:c.2233A>G, XM_017017285.2:c.2158A>G, XM_017017285.1:c.2158A>G, XM_017017284.2:c.2173A>G, XM_017017284.1:c.2173A>G, XM_017017287.2:c.1024A>G, XM_017017287.1:c.1024A>G, XM_017017290.2:c.868A>G, XM_017017290.1:c.868A>G, XM_017017289.2:c.949A>G, XM_017017289.1:c.949A>G, XM_047426495.1:c.2845A>G, XM_047426496.1:c.2791A>G, XM_047426498.1:c.2635A>G, XM_047426494.1:c.2887A>G, XM_047426497.1:c.2773A>G, XM_047426500.1:c.2440A>G, XM_047426499.1:c.2617A>G, XM_047426502.1:c.2284A>G, XM_047426503.1:c.2254A>G, XM_047426505.1:c.2098A>G, NP_001136171.1:p.Ile899Val, NP_001355.2:p.Ile794Val, NP_001338204.1:p.Ile892Val, NP_001338203.1:p.Ile893Val, NP_001338205.1:p.Ile795Val, NP_001193698.1:p.Ile833Val, NP_001136172.1:p.Ile673Val, NP_001136174.1:p.Ile258Val, NP_001364897.1:p.Ile790Val, NP_001364895.1:p.Ile833Val, NP_001364896.1:p.Ile815Val, NP_001287912.1:p.Ile776Val, NP_001364902.1:p.Ile734Val, NP_001364899.1:p.Ile781Val, NP_001364900.1:p.Ile763Val, NP_001364901.1:p.Ile743Val, NP_001364903.1:p.Ile691Val, NP_001364905.1:p.Ile287Val, NP_001364907.1:p.Ile276Val, NP_001364908.1:p.Ile272Val, NP_001364909.1:p.Ile258Val, NP_001364910.1:p.Ile241Val, NP_001364906.1:p.Ile285Val, NP_001364911.1:p.Ile199Val, XP_005273867.1:p.Ile761Val, XP_016872746.1:p.Ile949Val, XP_016872745.1:p.Ile950Val, XP_016872744.1:p.Ile950Val, XP_016872753.1:p.Ile828Val, XP_016872754.1:p.Ile827Val, XP_016872760.1:p.Ile796Val, XP_011543084.1:p.Ile815Val, XP_016872770.1:p.Ile744Val, XP_016872762.1:p.Ile795Val, XP_016872769.1:p.Ile744Val, XP_016872752.1:p.Ile829Val, XP_016872747.1:p.Ile909Val, XP_016872758.1:p.Ile804Val, XP_016872751.1:p.Ile847Val, XP_016872759.1:p.Ile797Val, XP_016872756.1:p.Ile808Val, XP_016872757.1:p.Ile807Val, XP_016872765.1:p.Ile772Val, XP_016872766.1:p.Ile766Val, XP_016872768.1:p.Ile745Val, XP_016872774.1:p.Ile720Val, XP_016872773.1:p.Ile725Val, XP_016872776.1:p.Ile342Val, XP_016872779.1:p.Ile290Val, XP_016872778.1:p.Ile317Val, XP_047282451.1:p.Ile949Val, XP_047282452.1:p.Ile931Val, XP_047282454.1:p.Ile879Val, XP_047282450.1:p.Ile963Val, XP_047282453.1:p.Ile925Val, XP_047282456.1:p.Ile814Val, XP_047282455.1:p.Ile873Val, XP_047282458.1:p.Ile762Val, XP_047282459.1:p.Ile752Val, XP_047282461.1:p.Ile700Val

                                      19.

                                      rs1464194772 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:83786783 (GRCh38)
                                        11:83497826 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:83786782:T:C
                                        Gene:
                                        DLG2 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.83786783T>C, NC_000011.9:g.83497826T>C, NG_021375.2:g.1846753A>G, NM_001142699.3:c.1732A>G, NM_001142699.2:c.1732A>G, NM_001142699.1:c.1732A>G, NM_001364.3:c.1417A>G, NM_001351275.2:c.1765A>G, NM_001351275.1:c.1765A>G, NM_001351274.2:c.1768A>G, NM_001351274.1:c.1768A>G, NM_001351276.2:c.1474A>G, NM_001351276.1:c.1474A>G, NM_001206769.2:c.1534A>G, NM_001206769.1:c.1534A>G, NM_001142700.2:c.1108A>G, NM_001142700.1:c.1108A>G, NM_001377968.1:c.1417A>G, NM_001377966.1:c.1534A>G, NM_001377967.1:c.1534A>G, NM_001300983.1:c.1417A>G, NM_001377973.1:c.1291A>G, NM_001377970.1:c.1378A>G, NM_001377971.1:c.1378A>G, NM_001377972.1:c.1318A>G, NR_165353.1:n.1343A>G, NM_001377974.1:c.1162A>G, NM_001377975.1:c.1318A>G, XM_005273810.5:c.1318A>G, XM_005273810.4:c.1318A>G, XM_005273810.3:c.1318A>G, XM_005273810.2:c.1318A>G, XM_005273810.1:c.1318A>G, XM_017017257.3:c.1840A>G, XM_017017257.2:c.1840A>G, XM_017017257.1:c.1840A>G, XM_017017256.3:c.1843A>G, XM_017017256.2:c.1843A>G, XM_017017256.1:c.1843A>G, XM_017017255.3:c.1843A>G, XM_017017255.2:c.1843A>G, XM_017017255.1:c.1843A>G, XM_017017264.3:c.1477A>G, XM_017017264.2:c.1477A>G, XM_017017264.1:c.1477A>G, XM_017017265.3:c.1474A>G, XM_017017265.2:c.1474A>G, XM_017017265.1:c.1474A>G, XM_017017271.3:c.1477A>G, XM_017017271.2:c.1477A>G, XM_017017271.1:c.1477A>G, XM_011544782.3:c.1480A>G, XM_011544782.2:c.1480A>G, XM_011544782.1:c.1480A>G, XM_017017281.3:c.1321A>G, XM_017017281.2:c.1321A>G, XM_017017281.1:c.1321A>G, XM_017017273.3:c.1378A>G, XM_017017273.2:c.1378A>G, XM_017017273.1:c.1378A>G, XM_017017280.3:c.1321A>G, XM_017017280.2:c.1321A>G, XM_017017280.1:c.1321A>G, XM_017017263.2:c.1480A>G, XM_017017263.1:c.1480A>G, XM_017017258.2:c.1720A>G, XM_017017258.1:c.1720A>G, XM_017017269.2:c.1405A>G, XM_017017269.1:c.1405A>G, XM_017017262.2:c.1534A>G, XM_017017262.1:c.1534A>G, XM_017017270.2:c.1480A>G, XM_017017270.1:c.1480A>G, XM_017017267.2:c.1417A>G, XM_017017267.1:c.1417A>G, XM_017017268.2:c.1414A>G, XM_017017268.1:c.1414A>G, XM_017017276.2:c.1405A>G, XM_017017276.1:c.1405A>G, XM_017017277.2:c.1291A>G, XM_017017277.1:c.1291A>G, XM_017017279.2:c.1324A>G, XM_017017279.1:c.1324A>G, XM_017017285.2:c.1249A>G, XM_017017285.1:c.1249A>G, XM_017017284.2:c.1168A>G, XM_017017284.1:c.1168A>G, XM_017017287.2:c.19A>G, XM_017017287.1:c.19A>G, XM_047426495.1:c.1882A>G, XM_047426496.1:c.1882A>G, XM_047426498.1:c.1726A>G, XM_047426494.1:c.1882A>G, XM_047426497.1:c.1768A>G, XM_047426500.1:c.1477A>G, XM_047426499.1:c.1612A>G, XM_047426502.1:c.1321A>G, XM_047426503.1:c.1291A>G, XM_047426505.1:c.1135A>G, XM_047426506.1:c.1477A>G, NP_001136171.1:p.Ile578Val, NP_001355.2:p.Ile473Val, NP_001338204.1:p.Ile589Val, NP_001338203.1:p.Ile590Val, NP_001338205.1:p.Ile492Val, NP_001193698.1:p.Ile512Val, NP_001136172.1:p.Ile370Val, NP_001364897.1:p.Ile473Val, NP_001364895.1:p.Ile512Val, NP_001364896.1:p.Ile512Val, NP_001287912.1:p.Ile473Val, NP_001364902.1:p.Ile431Val, NP_001364899.1:p.Ile460Val, NP_001364900.1:p.Ile460Val, NP_001364901.1:p.Ile440Val, NP_001364903.1:p.Ile388Val, NP_001364904.1:p.Ile440Val, XP_005273867.1:p.Ile440Val, XP_016872746.1:p.Ile614Val, XP_016872745.1:p.Ile615Val, XP_016872744.1:p.Ile615Val, XP_016872753.1:p.Ile493Val, XP_016872754.1:p.Ile492Val, XP_016872760.1:p.Ile493Val, XP_011543084.1:p.Ile494Val, XP_016872770.1:p.Ile441Val, XP_016872762.1:p.Ile460Val, XP_016872769.1:p.Ile441Val, XP_016872752.1:p.Ile494Val, XP_016872747.1:p.Ile574Val, XP_016872758.1:p.Ile469Val, XP_016872751.1:p.Ile512Val, XP_016872759.1:p.Ile494Val, XP_016872756.1:p.Ile473Val, XP_016872757.1:p.Ile472Val, XP_016872765.1:p.Ile469Val, XP_016872766.1:p.Ile431Val, XP_016872768.1:p.Ile442Val, XP_016872774.1:p.Ile417Val, XP_016872773.1:p.Ile390Val, XP_016872776.1:p.Ile7Val, XP_047282451.1:p.Ile628Val, XP_047282452.1:p.Ile628Val, XP_047282454.1:p.Ile576Val, XP_047282450.1:p.Ile628Val, XP_047282453.1:p.Ile590Val, XP_047282456.1:p.Ile493Val, XP_047282455.1:p.Ile538Val, XP_047282458.1:p.Ile441Val, XP_047282459.1:p.Ile431Val, XP_047282461.1:p.Ile379Val, XP_047282462.1:p.Ile493Val

                                        20.

                                        rs1462551392 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:84059428 (GRCh38)
                                          11:83770471 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:84059427:C:T
                                          Gene:
                                          DLG2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.84059428C>T, NC_000011.9:g.83770471C>T, NG_021375.2:g.1574108G>A, NM_001142699.3:c.806G>A, NM_001142699.2:c.806G>A, NM_001142699.1:c.806G>A, NM_001364.3:c.491G>A, NM_001351275.2:c.839G>A, NM_001351275.1:c.839G>A, NM_001351274.2:c.842G>A, NM_001351274.1:c.842G>A, NM_001351276.2:c.548G>A, NM_001351276.1:c.548G>A, NM_001206769.2:c.608G>A, NM_001206769.1:c.608G>A, NM_001142700.2:c.338G>A, NM_001142700.1:c.338G>A, NM_001377968.1:c.491G>A, NM_001377966.1:c.608G>A, NM_001377967.1:c.608G>A, NM_001300983.1:c.491G>A, NM_001377973.1:c.365G>A, NM_001377970.1:c.608G>A, NM_001377971.1:c.608G>A, NM_001377972.1:c.392G>A, NR_165353.1:n.417G>A, NM_001377974.1:c.392G>A, NM_001377983.1:c.608G>A, NM_001377975.1:c.392G>A, XM_005273810.5:c.392G>A, XM_005273810.4:c.392G>A, XM_005273810.3:c.392G>A, XM_005273810.2:c.392G>A, XM_005273810.1:c.392G>A, XM_017017257.3:c.914G>A, XM_017017257.2:c.914G>A, XM_017017257.1:c.914G>A, XM_017017256.3:c.917G>A, XM_017017256.2:c.917G>A, XM_017017256.1:c.917G>A, XM_017017255.3:c.917G>A, XM_017017255.2:c.917G>A, XM_017017255.1:c.917G>A, XM_017017264.3:c.551G>A, XM_017017264.2:c.551G>A, XM_017017264.1:c.551G>A, XM_017017265.3:c.548G>A, XM_017017265.2:c.548G>A, XM_017017265.1:c.548G>A, XM_017017271.3:c.551G>A, XM_017017271.2:c.551G>A, XM_017017271.1:c.551G>A, XM_011544782.3:c.554G>A, XM_011544782.2:c.554G>A, XM_011544782.1:c.554G>A, XM_017017281.3:c.551G>A, XM_017017281.2:c.551G>A, XM_017017281.1:c.551G>A, XM_017017273.3:c.608G>A, XM_017017273.2:c.608G>A, XM_017017273.1:c.608G>A, XM_017017280.3:c.551G>A, XM_017017280.2:c.551G>A, XM_017017280.1:c.551G>A, XM_017017263.2:c.554G>A, XM_017017263.1:c.554G>A, XM_017017258.2:c.794G>A, XM_017017258.1:c.794G>A, XM_017017269.2:c.479G>A, XM_017017269.1:c.479G>A, XM_017017262.2:c.608G>A, XM_017017262.1:c.608G>A, XM_017017270.2:c.554G>A, XM_017017270.1:c.554G>A, XM_017017267.2:c.491G>A, XM_017017267.1:c.491G>A, XM_017017268.2:c.488G>A, XM_017017268.1:c.488G>A, XM_017017276.2:c.479G>A, XM_017017276.1:c.479G>A, XM_017017277.2:c.365G>A, XM_017017277.1:c.365G>A, XM_017017279.2:c.554G>A, XM_017017279.1:c.554G>A, XM_017017285.2:c.479G>A, XM_017017285.1:c.479G>A, XM_017017284.2:c.242G>A, XM_017017284.1:c.242G>A, XM_047426495.1:c.956G>A, XM_047426496.1:c.956G>A, XM_047426498.1:c.956G>A, XM_047426494.1:c.956G>A, XM_047426497.1:c.842G>A, XM_047426500.1:c.551G>A, XM_047426499.1:c.842G>A, XM_047426502.1:c.551G>A, XM_047426503.1:c.365G>A, XM_047426505.1:c.365G>A, XM_047426506.1:c.551G>A, NP_001136171.1:p.Ser269Asn, NP_001355.2:p.Ser164Asn, NP_001338204.1:p.Ser280Asn, NP_001338203.1:p.Ser281Asn, NP_001338205.1:p.Ser183Asn, NP_001193698.1:p.Ser203Asn, NP_001136172.1:p.Ser113Asn, NP_001364897.1:p.Ser164Asn, NP_001364895.1:p.Ser203Asn, NP_001364896.1:p.Ser203Asn, NP_001287912.1:p.Ser164Asn, NP_001364902.1:p.Ser122Asn, NP_001364899.1:p.Ser203Asn, NP_001364900.1:p.Ser203Asn, NP_001364901.1:p.Ser131Asn, NP_001364903.1:p.Ser131Asn, NP_001364912.1:p.Ser203Asn, NP_001364904.1:p.Ser131Asn, XP_005273867.1:p.Ser131Asn, XP_016872746.1:p.Ser305Asn, XP_016872745.1:p.Ser306Asn, XP_016872744.1:p.Ser306Asn, XP_016872753.1:p.Ser184Asn, XP_016872754.1:p.Ser183Asn, XP_016872760.1:p.Ser184Asn, XP_011543084.1:p.Ser185Asn, XP_016872770.1:p.Ser184Asn, XP_016872762.1:p.Ser203Asn, XP_016872769.1:p.Ser184Asn, XP_016872752.1:p.Ser185Asn, XP_016872747.1:p.Ser265Asn, XP_016872758.1:p.Ser160Asn, XP_016872751.1:p.Ser203Asn, XP_016872759.1:p.Ser185Asn, XP_016872756.1:p.Ser164Asn, XP_016872757.1:p.Ser163Asn, XP_016872765.1:p.Ser160Asn, XP_016872766.1:p.Ser122Asn, XP_016872768.1:p.Ser185Asn, XP_016872774.1:p.Ser160Asn, XP_016872773.1:p.Ser81Asn, XP_047282451.1:p.Ser319Asn, XP_047282452.1:p.Ser319Asn, XP_047282454.1:p.Ser319Asn, XP_047282450.1:p.Ser319Asn, XP_047282453.1:p.Ser281Asn, XP_047282456.1:p.Ser184Asn, XP_047282455.1:p.Ser281Asn, XP_047282458.1:p.Ser184Asn, XP_047282459.1:p.Ser122Asn, XP_047282461.1:p.Ser122Asn, XP_047282462.1:p.Ser184Asn

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