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Items: 1 to 20 of 1316

1.

rs1489565790 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    3:197298422 (GRCh38)
    3:197025293 (GRCh37)
    Canonical SPDI:
    NC_000003.12:197298421:C:A,NC_000003.12:197298421:C:T
    Gene:
    DLG1 (Varview), DLG1-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:

    2.

    rs1489345588 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:197149775 (GRCh38)
      3:196876646 (GRCh37)
      Canonical SPDI:
      NC_000003.12:197149774:C:T
      Gene:
      DLG1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.197149775C>T, NC_000003.11:g.196876646C>T, NG_029099.1:g.153802G>A, NM_001290983.2:c.604G>A, NM_001290983.1:c.604G>A, NM_004087.2:c.604G>A, NM_001204387.2:c.256G>A, NM_001204387.1:c.256G>A, NM_001204388.2:c.256G>A, NM_001204388.1:c.256G>A, NR_158765.1:n.1128G>A, NM_001366218.1:c.604G>A, NM_001366215.1:c.505G>A, NM_001366217.1:c.505G>A, NM_001366214.1:c.604G>A, NM_001366212.1:c.505G>A, NR_158764.1:n.999G>A, NM_001366210.1:c.505G>A, NM_001366213.1:c.505G>A, NM_001366211.1:c.505G>A, NM_001366209.1:c.505G>A, NM_001363865.1:c.505G>A, NM_001098424.1:c.604G>A, NM_001204386.1:c.505G>A, NM_001366208.1:c.505G>A, NM_001366207.1:c.505G>A, NM_001366205.1:c.505G>A, NM_001366204.1:c.505G>A, NR_158766.1:n.320G>A, NM_001366221.1:c.355G>A, NR_158767.1:n.320G>A, NM_001366222.1:c.355G>A, XM_005269289.5:c.604G>A, XM_005269289.4:c.604G>A, XM_005269289.3:c.604G>A, XM_005269289.2:c.604G>A, XM_005269289.1:c.604G>A, XM_011512502.4:c.604G>A, XM_011512502.3:c.604G>A, XM_011512502.2:c.604G>A, XM_011512502.1:c.604G>A, XM_017005821.3:c.355G>A, XM_017005821.2:c.355G>A, XM_017005821.1:c.355G>A, XM_017005823.3:c.256G>A, XM_017005823.2:c.256G>A, XM_017005823.1:c.256G>A, XM_017005800.2:c.604G>A, XM_017005800.1:c.604G>A, XM_017005803.2:c.604G>A, XM_017005803.1:c.604G>A, XM_017005802.2:c.604G>A, XM_017005802.1:c.604G>A, XM_017005801.2:c.604G>A, XM_017005801.1:c.604G>A, XM_047447592.1:c.604G>A, XR_007095642.1:n.1098G>A, XR_007095643.1:n.1098G>A, XM_047447593.1:c.604G>A, XM_047447594.1:c.505G>A, NP_001277912.1:p.Val202Ile, NP_004078.2:p.Val202Ile, NP_001191316.1:p.Val86Ile, NP_001191317.1:p.Val86Ile, NP_001353147.1:p.Val202Ile, NP_001353144.1:p.Val169Ile, NP_001353146.1:p.Val169Ile, NP_001353143.1:p.Val202Ile, NP_001353141.1:p.Val169Ile, NP_001353139.1:p.Val169Ile, NP_001353142.1:p.Val169Ile, NP_001353140.1:p.Val169Ile, NP_001353138.1:p.Val169Ile, NP_001350794.1:p.Val169Ile, NP_001091894.1:p.Val202Ile, NP_001191315.1:p.Val169Ile, NP_001353137.1:p.Val169Ile, NP_001353136.1:p.Val169Ile, NP_001353134.1:p.Val169Ile, NP_001353133.1:p.Val169Ile, NP_001353150.1:p.Val119Ile, NP_001353151.1:p.Val119Ile, XP_005269346.1:p.Val202Ile, XP_011510804.1:p.Val202Ile, XP_016861310.1:p.Val119Ile, XP_016861312.1:p.Val86Ile, XP_016861289.1:p.Val202Ile, XP_016861292.1:p.Val202Ile, XP_016861291.1:p.Val202Ile, XP_016861290.1:p.Val202Ile, XP_047303548.1:p.Val202Ile, XP_047303549.1:p.Val202Ile, XP_047303550.1:p.Val169Ile

      3.

      rs1489187465 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GAAGAT>- [Show Flanks]
        Chromosome:
        3:197043488 (GRCh38)
        3:196770359 (GRCh37)
        Canonical SPDI:
        NC_000003.12:197043487:GAAGAT:
        Gene:
        DLG1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.197043488_197043493del, NC_000003.11:g.196770359_196770364del, NG_029099.1:g.260084_260089del, NM_001290983.2:c.*1130_*1135del, NM_001290983.1:c.*1130_*1135del, NM_004087.2:c.*1130_*1135del, NM_001204387.2:c.*1130_*1135del, NM_001204387.1:c.*1130_*1135del, NM_001204388.2:c.*1130_*1135del, NM_001204388.1:c.*1130_*1135del, NR_158765.1:n.4469_4474del, NM_001366218.1:c.*1130_*1135del, NM_001366215.1:c.*1130_*1135del, NM_001366217.1:c.*1130_*1135del, NM_001366214.1:c.*1130_*1135del, NM_001366212.1:c.*1130_*1135del, NR_158764.1:n.4340_4345del, NM_001366219.1:c.*1130_*1135del, NM_001366210.1:c.*1130_*1135del, NM_001366213.1:c.*1130_*1135del, NM_001366211.1:c.*1130_*1135del, NM_001366220.1:c.*1130_*1135del, NM_001366209.1:c.*1130_*1135del, NM_001366216.1:c.*1130_*1135del, NM_001363865.1:c.*1130_*1135del, NM_001366203.1:c.*1130_*1135del, NM_001098424.1:c.*1130_*1135del, NM_001204386.1:c.*1130_*1135del, NM_001366206.1:c.*1130_*1135del, NM_001366208.1:c.*1130_*1135del, NM_001366207.1:c.*1130_*1135del, NM_001366205.1:c.*1130_*1135del, NM_001366204.1:c.*1130_*1135del, NR_158766.1:n.3697_3702del, NM_001366221.1:c.*1130_*1135del, NR_158767.1:n.3694_3699del, NM_001366222.1:c.*1130_*1135del, XM_005269289.5:c.*1130_*1135del, XM_005269289.4:c.*1130_*1135del, XM_005269289.3:c.*1130_*1135del, XM_005269289.2:c.*1130_*1135del, XM_005269289.1:c.*1130_*1135del, XM_011512502.4:c.*1130_*1135del, XM_011512502.3:c.*1130_*1135del, XM_011512502.2:c.*1130_*1135del, XM_011512502.1:c.*1130_*1135del, XM_017005811.3:c.*1130_*1135del, XM_017005811.2:c.*1130_*1135del, XM_017005811.1:c.*1130_*1135del, XM_017005821.3:c.*1130_*1135del, XM_017005821.2:c.*1130_*1135del, XM_017005821.1:c.*1130_*1135del, XM_017005823.3:c.*1130_*1135del, XM_017005823.2:c.*1130_*1135del, XM_017005823.1:c.*1130_*1135del, XM_017005800.2:c.*1130_*1135del, XM_017005800.1:c.*1130_*1135del, XM_017005803.2:c.*1130_*1135del, XM_017005803.1:c.*1130_*1135del, XM_017005802.2:c.*1130_*1135del, XM_017005802.1:c.*1130_*1135del, XM_017005801.2:c.*1130_*1135del, XM_017005801.1:c.*1130_*1135del

        4.

        rs1488117119 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:197194520 (GRCh38)
          3:196921391 (GRCh37)
          Canonical SPDI:
          NC_000003.12:197194519:T:C
          Gene:
          DLG1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.197194520T>C, NC_000003.11:g.196921391T>C, NG_029099.1:g.109057A>G, NM_001290983.2:c.388A>G, NM_001290983.1:c.388A>G, NM_004087.2:c.388A>G, NR_158765.1:n.1011A>G, NM_001366218.1:c.388A>G, NM_001366215.1:c.388A>G, NM_001366217.1:c.388A>G, NM_001366214.1:c.388A>G, NM_001366212.1:c.388A>G, NR_158764.1:n.882A>G, NM_001366219.1:c.388A>G, NM_001366210.1:c.388A>G, NM_001366213.1:c.388A>G, NM_001366211.1:c.388A>G, NM_001366220.1:c.388A>G, NM_001366209.1:c.388A>G, NM_001366216.1:c.388A>G, NM_001363865.1:c.388A>G, NM_001366203.1:c.388A>G, NM_001098424.1:c.388A>G, NM_001204386.1:c.388A>G, NM_001366206.1:c.388A>G, NM_001366208.1:c.388A>G, NM_001366207.1:c.388A>G, NM_001366205.1:c.388A>G, NM_001366204.1:c.388A>G, XM_005269289.5:c.388A>G, XM_005269289.4:c.388A>G, XM_005269289.3:c.388A>G, XM_005269289.2:c.388A>G, XM_005269289.1:c.388A>G, XM_011512502.4:c.388A>G, XM_011512502.3:c.388A>G, XM_011512502.2:c.388A>G, XM_011512502.1:c.388A>G, XM_017005811.3:c.388A>G, XM_017005811.2:c.388A>G, XM_017005811.1:c.388A>G, XM_017005800.2:c.388A>G, XM_017005800.1:c.388A>G, XM_017005803.2:c.388A>G, XM_017005803.1:c.388A>G, XM_017005802.2:c.388A>G, XM_017005802.1:c.388A>G, XM_017005801.2:c.388A>G, XM_017005801.1:c.388A>G, XM_047447592.1:c.388A>G, XR_007095642.1:n.882A>G, XR_007095643.1:n.882A>G, XM_047447593.1:c.388A>G, XM_047447594.1:c.388A>G, NP_001277912.1:p.Ile130Val, NP_004078.2:p.Ile130Val, NP_001353147.1:p.Ile130Val, NP_001353144.1:p.Ile130Val, NP_001353146.1:p.Ile130Val, NP_001353143.1:p.Ile130Val, NP_001353141.1:p.Ile130Val, NP_001353148.1:p.Ile130Val, NP_001353139.1:p.Ile130Val, NP_001353142.1:p.Ile130Val, NP_001353140.1:p.Ile130Val, NP_001353149.1:p.Ile130Val, NP_001353138.1:p.Ile130Val, NP_001353145.1:p.Ile130Val, NP_001350794.1:p.Ile130Val, NP_001353132.1:p.Ile130Val, NP_001091894.1:p.Ile130Val, NP_001191315.1:p.Ile130Val, NP_001353135.1:p.Ile130Val, NP_001353137.1:p.Ile130Val, NP_001353136.1:p.Ile130Val, NP_001353134.1:p.Ile130Val, NP_001353133.1:p.Ile130Val, XP_005269346.1:p.Ile130Val, XP_011510804.1:p.Ile130Val, XP_016861300.1:p.Ile130Val, XP_016861289.1:p.Ile130Val, XP_016861292.1:p.Ile130Val, XP_016861291.1:p.Ile130Val, XP_016861290.1:p.Ile130Val, XP_047303548.1:p.Ile130Val, XP_047303549.1:p.Ile130Val, XP_047303550.1:p.Ile130Val

          5.

          rs1487850364 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:197059949 (GRCh38)
            3:196786820 (GRCh37)
            Canonical SPDI:
            NC_000003.12:197059948:T:C
            Gene:
            DLG1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.197059949T>C, NC_000003.11:g.196786820T>C, NG_029099.1:g.243628A>G, NM_001290983.2:c.2456A>G, NM_001290983.1:c.2456A>G, NM_004087.2:c.2522A>G, NM_001204387.2:c.2144A>G, NM_001204387.1:c.2144A>G, NM_001204388.2:c.2108A>G, NM_001204388.1:c.2108A>G, NR_158765.1:n.3080A>G, NM_001366218.1:c.2456A>G, NM_001366215.1:c.2423A>G, NM_001366217.1:c.2393A>G, NM_001366214.1:c.2519A>G, NM_001366212.1:c.2357A>G, NR_158764.1:n.2951A>G, NM_001366219.1:c.2303A>G, NM_001366210.1:c.2423A>G, NM_001366213.1:c.2420A>G, NM_001366211.1:c.2393A>G, NM_001366220.1:c.2366A>G, NM_001366209.1:c.2357A>G, NM_001366216.1:c.2303A>G, NM_001363865.1:c.2423A>G, NM_001366203.1:c.2339A>G, NM_001098424.1:c.2456A>G, NM_001204386.1:c.2420A>G, NM_001366206.1:c.2369A>G, NM_001366208.1:c.2357A>G, NM_001366207.1:c.2423A>G, NM_001366205.1:c.2420A>G, NM_001366204.1:c.2357A>G, NR_158766.1:n.2308A>G, NM_001366221.1:c.2243A>G, NR_158767.1:n.2305A>G, NM_001366222.1:c.2207A>G, XM_005269289.5:c.2522A>G, XM_005269289.4:c.2522A>G, XM_005269289.3:c.2522A>G, XM_005269289.2:c.2522A>G, XM_005269289.1:c.2522A>G, XM_011512502.4:c.2456A>G, XM_011512502.3:c.2456A>G, XM_011512502.2:c.2456A>G, XM_011512502.1:c.2456A>G, XM_017005811.3:c.2369A>G, XM_017005811.2:c.2369A>G, XM_017005811.1:c.2369A>G, XM_017005821.3:c.2273A>G, XM_017005821.2:c.2273A>G, XM_017005821.1:c.2273A>G, XM_017005823.3:c.2174A>G, XM_017005823.2:c.2174A>G, XM_017005823.1:c.2174A>G, XM_017005800.2:c.2522A>G, XM_017005800.1:c.2522A>G, XM_017005803.2:c.2522A>G, XM_017005803.1:c.2522A>G, XM_017005802.2:c.2522A>G, XM_017005802.1:c.2522A>G, XM_017005801.2:c.2522A>G, XM_017005801.1:c.2522A>G, NP_001277912.1:p.Gln819Arg, NP_004078.2:p.Gln841Arg, NP_001191316.1:p.Gln715Arg, NP_001191317.1:p.Gln703Arg, NP_001353147.1:p.Gln819Arg, NP_001353144.1:p.Gln808Arg, NP_001353146.1:p.Gln798Arg, NP_001353143.1:p.Gln840Arg, NP_001353141.1:p.Gln786Arg, NP_001353148.1:p.Gln768Arg, NP_001353139.1:p.Gln808Arg, NP_001353142.1:p.Gln807Arg, NP_001353140.1:p.Gln798Arg, NP_001353149.1:p.Gln789Arg, NP_001353138.1:p.Gln786Arg, NP_001353145.1:p.Gln768Arg, NP_001350794.1:p.Gln808Arg, NP_001353132.1:p.Gln780Arg, NP_001091894.1:p.Gln819Arg, NP_001191315.1:p.Gln807Arg, NP_001353135.1:p.Gln790Arg, NP_001353137.1:p.Gln786Arg, NP_001353136.1:p.Gln808Arg, NP_001353134.1:p.Gln807Arg, NP_001353133.1:p.Gln786Arg, NP_001353150.1:p.Gln748Arg, NP_001353151.1:p.Gln736Arg, XP_005269346.1:p.Gln841Arg, XP_011510804.1:p.Gln819Arg, XP_016861300.1:p.Gln790Arg, XP_016861310.1:p.Gln758Arg, XP_016861312.1:p.Gln725Arg, XP_016861289.1:p.Gln841Arg, XP_016861292.1:p.Gln841Arg, XP_016861291.1:p.Gln841Arg, XP_016861290.1:p.Gln841Arg

            6.

            rs1486426475 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              3:197043302 (GRCh38)
              3:196770173 (GRCh37)
              Canonical SPDI:
              NC_000003.12:197043301:C:A,NC_000003.12:197043301:C:T
              Gene:
              DLG1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000026/7 (TOPMED)
              HGVS:
              NC_000003.12:g.197043302C>A, NC_000003.12:g.197043302C>T, NC_000003.11:g.196770173C>A, NC_000003.11:g.196770173C>T, NG_029099.1:g.260275G>T, NG_029099.1:g.260275G>A, NM_001290983.2:c.*1321G>T, NM_001290983.2:c.*1321G>A, NM_001290983.1:c.*1321G>T, NM_001290983.1:c.*1321G>A, NM_004087.2:c.*1321G>T, NM_004087.2:c.*1321G>A, NM_001204387.2:c.*1321G>T, NM_001204387.2:c.*1321G>A, NM_001204387.1:c.*1321G>T, NM_001204387.1:c.*1321G>A, NM_001204388.2:c.*1321G>T, NM_001204388.2:c.*1321G>A, NM_001204388.1:c.*1321G>T, NM_001204388.1:c.*1321G>A, NR_158765.1:n.4660G>T, NR_158765.1:n.4660G>A, NM_001366218.1:c.*1321G>T, NM_001366218.1:c.*1321G>A, NM_001366215.1:c.*1321G>T, NM_001366215.1:c.*1321G>A, NM_001366217.1:c.*1321G>T, NM_001366217.1:c.*1321G>A, NM_001366214.1:c.*1321G>T, NM_001366214.1:c.*1321G>A, NM_001366212.1:c.*1321G>T, NM_001366212.1:c.*1321G>A, NR_158764.1:n.4531G>T, NR_158764.1:n.4531G>A, NM_001366219.1:c.*1321G>T, NM_001366219.1:c.*1321G>A, NM_001366210.1:c.*1321G>T, NM_001366210.1:c.*1321G>A, NM_001366213.1:c.*1321G>T, NM_001366213.1:c.*1321G>A, NM_001366211.1:c.*1321G>T, NM_001366211.1:c.*1321G>A, NM_001366220.1:c.*1321G>T, NM_001366220.1:c.*1321G>A, NM_001366209.1:c.*1321G>T, NM_001366209.1:c.*1321G>A, NM_001366216.1:c.*1321G>T, NM_001366216.1:c.*1321G>A, NM_001363865.1:c.*1321G>T, NM_001363865.1:c.*1321G>A, NM_001366203.1:c.*1321G>T, NM_001366203.1:c.*1321G>A, NM_001098424.1:c.*1321G>T, NM_001098424.1:c.*1321G>A, NM_001204386.1:c.*1321G>T, NM_001204386.1:c.*1321G>A, NM_001366206.1:c.*1321G>T, NM_001366206.1:c.*1321G>A, NM_001366208.1:c.*1321G>T, NM_001366208.1:c.*1321G>A, NM_001366207.1:c.*1321G>T, NM_001366207.1:c.*1321G>A, NM_001366205.1:c.*1321G>T, NM_001366205.1:c.*1321G>A, NM_001366204.1:c.*1321G>T, NM_001366204.1:c.*1321G>A, NR_158766.1:n.3888G>T, NR_158766.1:n.3888G>A, NM_001366221.1:c.*1321G>T, NM_001366221.1:c.*1321G>A, NR_158767.1:n.3885G>T, NR_158767.1:n.3885G>A, NM_001366222.1:c.*1321G>T, NM_001366222.1:c.*1321G>A, XM_005269289.5:c.*1321G>T, XM_005269289.5:c.*1321G>A, XM_005269289.4:c.*1321G>T, XM_005269289.4:c.*1321G>A, XM_005269289.3:c.*1321G>T, XM_005269289.3:c.*1321G>A, XM_005269289.2:c.*1321G>T, XM_005269289.2:c.*1321G>A, XM_005269289.1:c.*1321G>T, XM_005269289.1:c.*1321G>A, XM_011512502.4:c.*1321G>T, XM_011512502.4:c.*1321G>A, XM_011512502.3:c.*1321G>T, XM_011512502.3:c.*1321G>A, XM_011512502.2:c.*1321G>T, XM_011512502.2:c.*1321G>A, XM_011512502.1:c.*1321G>T, XM_011512502.1:c.*1321G>A, XM_017005811.3:c.*1321G>T, XM_017005811.3:c.*1321G>A, XM_017005811.2:c.*1321G>T, XM_017005811.2:c.*1321G>A, XM_017005811.1:c.*1321G>T, XM_017005811.1:c.*1321G>A, XM_017005821.3:c.*1321G>T, XM_017005821.3:c.*1321G>A, XM_017005821.2:c.*1321G>T, XM_017005821.2:c.*1321G>A, XM_017005821.1:c.*1321G>T, XM_017005821.1:c.*1321G>A, XM_017005823.3:c.*1321G>T, XM_017005823.3:c.*1321G>A, XM_017005823.2:c.*1321G>T, XM_017005823.2:c.*1321G>A, XM_017005823.1:c.*1321G>T, XM_017005823.1:c.*1321G>A, XM_017005800.2:c.*1321G>T, XM_017005800.2:c.*1321G>A, XM_017005800.1:c.*1321G>T, XM_017005800.1:c.*1321G>A, XM_017005803.2:c.*1321G>T, XM_017005803.2:c.*1321G>A, XM_017005803.1:c.*1321G>T, XM_017005803.1:c.*1321G>A, XM_017005802.2:c.*1321G>T, XM_017005802.2:c.*1321G>A, XM_017005802.1:c.*1321G>T, XM_017005802.1:c.*1321G>A, XM_017005801.2:c.*1321G>T, XM_017005801.2:c.*1321G>A, XM_017005801.1:c.*1321G>T, XM_017005801.1:c.*1321G>A

              7.

              rs1486098119 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                3:197044298 (GRCh38)
                3:196771169 (GRCh37)
                Canonical SPDI:
                NC_000003.12:197044297:G:C
                Gene:
                DLG1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.197044298G>C, NC_000003.11:g.196771169G>C, NG_029099.1:g.259279C>G, NM_001290983.2:c.*325C>G, NM_001290983.1:c.*325C>G, NM_004087.2:c.*325C>G, NM_001204387.2:c.*325C>G, NM_001204387.1:c.*325C>G, NM_001204388.2:c.*325C>G, NM_001204388.1:c.*325C>G, NR_158765.1:n.3664C>G, NM_001366218.1:c.*325C>G, NM_001366215.1:c.*325C>G, NM_001366217.1:c.*325C>G, NM_001366214.1:c.*325C>G, NM_001366212.1:c.*325C>G, NR_158764.1:n.3535C>G, NM_001366219.1:c.*325C>G, NM_001366210.1:c.*325C>G, NM_001366213.1:c.*325C>G, NM_001366211.1:c.*325C>G, NM_001366220.1:c.*325C>G, NM_001366209.1:c.*325C>G, NM_001366216.1:c.*325C>G, NM_001363865.1:c.*325C>G, NM_001366203.1:c.*325C>G, NM_001098424.1:c.*325C>G, NM_001204386.1:c.*325C>G, NM_001366206.1:c.*325C>G, NM_001366208.1:c.*325C>G, NM_001366207.1:c.*325C>G, NM_001366205.1:c.*325C>G, NM_001366204.1:c.*325C>G, NR_158766.1:n.2892C>G, NM_001366221.1:c.*325C>G, NR_158767.1:n.2889C>G, NM_001366222.1:c.*325C>G, XM_005269289.5:c.*325C>G, XM_005269289.4:c.*325C>G, XM_005269289.3:c.*325C>G, XM_005269289.2:c.*325C>G, XM_005269289.1:c.*325C>G, XM_011512502.4:c.*325C>G, XM_011512502.3:c.*325C>G, XM_011512502.2:c.*325C>G, XM_011512502.1:c.*325C>G, XM_017005811.3:c.*325C>G, XM_017005811.2:c.*325C>G, XM_017005811.1:c.*325C>G, XM_017005821.3:c.*325C>G, XM_017005821.2:c.*325C>G, XM_017005821.1:c.*325C>G, XM_017005823.3:c.*325C>G, XM_017005823.2:c.*325C>G, XM_017005823.1:c.*325C>G, XM_017005800.2:c.*325C>G, XM_017005800.1:c.*325C>G, XM_017005803.2:c.*325C>G, XM_017005803.1:c.*325C>G, XM_017005802.2:c.*325C>G, XM_017005802.1:c.*325C>G, XM_017005801.2:c.*325C>G, XM_017005801.1:c.*325C>G

                8.

                rs1485068772 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:197042927 (GRCh38)
                  3:196769798 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:197042926:T:C
                  Gene:
                  DLG1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.197042927T>C, NC_000003.11:g.196769798T>C, NG_029099.1:g.260650A>G, NM_001290983.2:c.*1696A>G, NM_001290983.1:c.*1696A>G, NM_004087.2:c.*1696A>G, NM_001204387.2:c.*1696A>G, NM_001204387.1:c.*1696A>G, NM_001204388.2:c.*1696A>G, NM_001204388.1:c.*1696A>G, NR_158765.1:n.5035A>G, NM_001366218.1:c.*1696A>G, NM_001366215.1:c.*1696A>G, NM_001366217.1:c.*1696A>G, NM_001366214.1:c.*1696A>G, NM_001366212.1:c.*1696A>G, NR_158764.1:n.4906A>G, NM_001366219.1:c.*1696A>G, NM_001366210.1:c.*1696A>G, NM_001366213.1:c.*1696A>G, NM_001366211.1:c.*1696A>G, NM_001366220.1:c.*1696A>G, NM_001366209.1:c.*1696A>G, NM_001366216.1:c.*1696A>G, NM_001363865.1:c.*1696A>G, NM_001366203.1:c.*1696A>G, NM_001098424.1:c.*1696A>G, NM_001204386.1:c.*1696A>G, NM_001366206.1:c.*1696A>G, NM_001366208.1:c.*1696A>G, NM_001366207.1:c.*1696A>G, NM_001366205.1:c.*1696A>G, NM_001366204.1:c.*1696A>G, NR_158766.1:n.4263A>G, NM_001366221.1:c.*1696A>G, NR_158767.1:n.4260A>G, NM_001366222.1:c.*1696A>G, XM_005269289.5:c.*1696A>G, XM_005269289.4:c.*1696A>G, XM_005269289.3:c.*1696A>G, XM_005269289.2:c.*1696A>G, XM_005269289.1:c.*1696A>G, XM_011512502.4:c.*1696A>G, XM_011512502.3:c.*1696A>G, XM_011512502.2:c.*1696A>G, XM_011512502.1:c.*1696A>G, XM_017005811.3:c.*1696A>G, XM_017005811.2:c.*1696A>G, XM_017005811.1:c.*1696A>G, XM_017005821.3:c.*1696A>G, XM_017005821.2:c.*1696A>G, XM_017005821.1:c.*1696A>G, XM_017005823.3:c.*1696A>G, XM_017005823.2:c.*1696A>G, XM_017005823.1:c.*1696A>G, XM_017005800.2:c.*1696A>G, XM_017005800.1:c.*1696A>G, XM_017005803.2:c.*1696A>G, XM_017005803.1:c.*1696A>G, XM_017005802.2:c.*1696A>G, XM_017005802.1:c.*1696A>G, XM_017005801.2:c.*1696A>G, XM_017005801.1:c.*1696A>G

                  9.

                  rs1484223823 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GTT>- [Show Flanks]
                    Chromosome:
                    3:197043985 (GRCh38)
                    3:196770856 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:197043981:GTTGTT:GTT
                    Gene:
                    DLG1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTTGTT=0.000071/1 (ALFA)
                    -=0.000029/4 (GnomAD)
                    -=0.000038/10 (TOPMED)
                    -=0.000106/2 (TOMMO)
                    HGVS:
                    NC_000003.12:g.197043982GTT[1], NC_000003.11:g.196770853GTT[1], NG_029099.1:g.259590AAC[1], NM_001290983.2:c.*636AAC[1], NM_001290983.1:c.*636AAC[1], NM_004087.2:c.*636AAC[1], NM_001204387.2:c.*636AAC[1], NM_001204387.1:c.*636AAC[1], NM_001204388.2:c.*636AAC[1], NM_001204388.1:c.*636AAC[1], NR_158765.1:n.3975AAC[1], NM_001366218.1:c.*636AAC[1], NM_001366215.1:c.*636AAC[1], NM_001366217.1:c.*636AAC[1], NM_001366214.1:c.*636AAC[1], NM_001366212.1:c.*636AAC[1], NR_158764.1:n.3846AAC[1], NM_001366219.1:c.*636AAC[1], NM_001366210.1:c.*636AAC[1], NM_001366213.1:c.*636AAC[1], NM_001366211.1:c.*636AAC[1], NM_001366220.1:c.*636AAC[1], NM_001366209.1:c.*636AAC[1], NM_001366216.1:c.*636AAC[1], NM_001363865.1:c.*636AAC[1], NM_001366203.1:c.*636AAC[1], NM_001098424.1:c.*636AAC[1], NM_001204386.1:c.*636AAC[1], NM_001366206.1:c.*636AAC[1], NM_001366208.1:c.*636AAC[1], NM_001366207.1:c.*636AAC[1], NM_001366205.1:c.*636AAC[1], NM_001366204.1:c.*636AAC[1], NR_158766.1:n.3203AAC[1], NM_001366221.1:c.*636AAC[1], NR_158767.1:n.3200AAC[1], NM_001366222.1:c.*636AAC[1], XM_005269289.5:c.*636AAC[1], XM_005269289.4:c.*636AAC[1], XM_005269289.3:c.*636AAC[1], XM_005269289.2:c.*636AAC[1], XM_005269289.1:c.*636AAC[1], XM_011512502.4:c.*636AAC[1], XM_011512502.3:c.*636AAC[1], XM_011512502.2:c.*636AAC[1], XM_011512502.1:c.*636AAC[1], XM_017005811.3:c.*636AAC[1], XM_017005811.2:c.*636AAC[1], XM_017005811.1:c.*636AAC[1], XM_017005821.3:c.*636AAC[1], XM_017005821.2:c.*636AAC[1], XM_017005821.1:c.*636AAC[1], XM_017005823.3:c.*636AAC[1], XM_017005823.2:c.*636AAC[1], XM_017005823.1:c.*636AAC[1], XM_017005800.2:c.*636AAC[1], XM_017005800.1:c.*636AAC[1], XM_017005803.2:c.*636AAC[1], XM_017005803.1:c.*636AAC[1], XM_017005802.2:c.*636AAC[1], XM_017005802.1:c.*636AAC[1], XM_017005801.2:c.*636AAC[1], XM_017005801.1:c.*636AAC[1]

                    10.

                    rs1483420316 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:197085634 (GRCh38)
                      3:196812505 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:197085633:T:C
                      Gene:
                      DLG1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000031/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000003.12:g.197085634T>C, NC_000003.11:g.196812505T>C, NG_029099.1:g.217943A>G, NM_001290983.2:c.1883A>G, NM_001290983.1:c.1883A>G, NM_004087.2:c.1883A>G, NM_001204387.2:c.1535A>G, NM_001204387.1:c.1535A>G, NM_001204388.2:c.1535A>G, NM_001204388.1:c.1535A>G, NR_158765.1:n.2407A>G, NM_001366218.1:c.1883A>G, NM_001366215.1:c.1784A>G, NM_001366217.1:c.1784A>G, NM_001366214.1:c.1883A>G, NM_001366212.1:c.1784A>G, NR_158764.1:n.2278A>G, NM_001366219.1:c.1730A>G, NM_001366210.1:c.1784A>G, NM_001366213.1:c.1784A>G, NM_001366211.1:c.1784A>G, NM_001366220.1:c.1730A>G, NM_001366209.1:c.1784A>G, NM_001366216.1:c.1730A>G, NM_001363865.1:c.1784A>G, NM_001366203.1:c.1730A>G, NM_001098424.1:c.1883A>G, NM_001204386.1:c.1784A>G, NM_001366206.1:c.1730A>G, NM_001366208.1:c.1784A>G, NM_001366207.1:c.1784A>G, NM_001366205.1:c.1784A>G, NM_001366204.1:c.1784A>G, NR_158766.1:n.1599A>G, NM_001366221.1:c.1634A>G, NR_158767.1:n.1599A>G, NM_001366222.1:c.1634A>G, XM_005269289.5:c.1883A>G, XM_005269289.4:c.1883A>G, XM_005269289.3:c.1883A>G, XM_005269289.2:c.1883A>G, XM_005269289.1:c.1883A>G, XM_011512502.4:c.1883A>G, XM_011512502.3:c.1883A>G, XM_011512502.2:c.1883A>G, XM_011512502.1:c.1883A>G, XM_017005811.3:c.1730A>G, XM_017005811.2:c.1730A>G, XM_017005811.1:c.1730A>G, XM_017005821.3:c.1634A>G, XM_017005821.2:c.1634A>G, XM_017005821.1:c.1634A>G, XM_017005823.3:c.1535A>G, XM_017005823.2:c.1535A>G, XM_017005823.1:c.1535A>G, XM_017005800.2:c.1883A>G, XM_017005800.1:c.1883A>G, XM_017005803.2:c.1883A>G, XM_017005803.1:c.1883A>G, XM_017005802.2:c.1883A>G, XM_017005802.1:c.1883A>G, XM_017005801.2:c.1883A>G, XM_017005801.1:c.1883A>G, XM_047447592.1:c.1883A>G, XR_007095642.1:n.2377A>G, XR_007095643.1:n.2377A>G, XM_047447593.1:c.1883A>G, NP_001277912.1:p.Gln628Arg, NP_004078.2:p.Gln628Arg, NP_001191316.1:p.Gln512Arg, NP_001191317.1:p.Gln512Arg, NP_001353147.1:p.Gln628Arg, NP_001353144.1:p.Gln595Arg, NP_001353146.1:p.Gln595Arg, NP_001353143.1:p.Gln628Arg, NP_001353141.1:p.Gln595Arg, NP_001353148.1:p.Gln577Arg, NP_001353139.1:p.Gln595Arg, NP_001353142.1:p.Gln595Arg, NP_001353140.1:p.Gln595Arg, NP_001353149.1:p.Gln577Arg, NP_001353138.1:p.Gln595Arg, NP_001353145.1:p.Gln577Arg, NP_001350794.1:p.Gln595Arg, NP_001353132.1:p.Gln577Arg, NP_001091894.1:p.Gln628Arg, NP_001191315.1:p.Gln595Arg, NP_001353135.1:p.Gln577Arg, NP_001353137.1:p.Gln595Arg, NP_001353136.1:p.Gln595Arg, NP_001353134.1:p.Gln595Arg, NP_001353133.1:p.Gln595Arg, NP_001353150.1:p.Gln545Arg, NP_001353151.1:p.Gln545Arg, XP_005269346.1:p.Gln628Arg, XP_011510804.1:p.Gln628Arg, XP_016861300.1:p.Gln577Arg, XP_016861310.1:p.Gln545Arg, XP_016861312.1:p.Gln512Arg, XP_016861289.1:p.Gln628Arg, XP_016861292.1:p.Gln628Arg, XP_016861291.1:p.Gln628Arg, XP_016861290.1:p.Gln628Arg, XP_047303548.1:p.Gln628Arg, XP_047303549.1:p.Gln628Arg

                      11.

                      rs1482995804 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:197090973 (GRCh38)
                        3:196817844 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:197090972:T:C
                        Gene:
                        DLG1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000003.12:g.197090973T>C, NC_000003.11:g.196817844T>C, NG_029099.1:g.212604A>G, NM_001290983.2:c.1699A>G, NM_001290983.1:c.1699A>G, NM_004087.2:c.1699A>G, NM_001204387.2:c.1351A>G, NM_001204387.1:c.1351A>G, NM_001204388.2:c.1351A>G, NM_001204388.1:c.1351A>G, NR_158765.1:n.2223A>G, NM_001366218.1:c.1699A>G, NM_001366215.1:c.1600A>G, NM_001366217.1:c.1600A>G, NM_001366214.1:c.1699A>G, NM_001366212.1:c.1600A>G, NR_158764.1:n.2094A>G, NM_001366219.1:c.1546A>G, NM_001366210.1:c.1600A>G, NM_001366213.1:c.1600A>G, NM_001366211.1:c.1600A>G, NM_001366220.1:c.1546A>G, NM_001366209.1:c.1600A>G, NM_001366216.1:c.1546A>G, NM_001363865.1:c.1600A>G, NM_001366203.1:c.1546A>G, NM_001098424.1:c.1699A>G, NM_001204386.1:c.1600A>G, NM_001366206.1:c.1546A>G, NM_001366208.1:c.1600A>G, NM_001366207.1:c.1600A>G, NM_001366205.1:c.1600A>G, NM_001366204.1:c.1600A>G, NR_158766.1:n.1415A>G, NM_001366221.1:c.1450A>G, NR_158767.1:n.1415A>G, NM_001366222.1:c.1450A>G, XM_005269289.5:c.1699A>G, XM_005269289.4:c.1699A>G, XM_005269289.3:c.1699A>G, XM_005269289.2:c.1699A>G, XM_005269289.1:c.1699A>G, XM_011512502.4:c.1699A>G, XM_011512502.3:c.1699A>G, XM_011512502.2:c.1699A>G, XM_011512502.1:c.1699A>G, XM_017005811.3:c.1546A>G, XM_017005811.2:c.1546A>G, XM_017005811.1:c.1546A>G, XM_017005821.3:c.1450A>G, XM_017005821.2:c.1450A>G, XM_017005821.1:c.1450A>G, XM_017005823.3:c.1351A>G, XM_017005823.2:c.1351A>G, XM_017005823.1:c.1351A>G, XM_017005800.2:c.1699A>G, XM_017005800.1:c.1699A>G, XM_017005803.2:c.1699A>G, XM_017005803.1:c.1699A>G, XM_017005802.2:c.1699A>G, XM_017005802.1:c.1699A>G, XM_017005801.2:c.1699A>G, XM_017005801.1:c.1699A>G, XM_047447592.1:c.1699A>G, XR_007095642.1:n.2193A>G, XR_007095643.1:n.2193A>G, XM_047447593.1:c.1699A>G, XM_047447594.1:c.1600A>G, NP_001277912.1:p.Ser567Gly, NP_004078.2:p.Ser567Gly, NP_001191316.1:p.Ser451Gly, NP_001191317.1:p.Ser451Gly, NP_001353147.1:p.Ser567Gly, NP_001353144.1:p.Ser534Gly, NP_001353146.1:p.Ser534Gly, NP_001353143.1:p.Ser567Gly, NP_001353141.1:p.Ser534Gly, NP_001353148.1:p.Ser516Gly, NP_001353139.1:p.Ser534Gly, NP_001353142.1:p.Ser534Gly, NP_001353140.1:p.Ser534Gly, NP_001353149.1:p.Ser516Gly, NP_001353138.1:p.Ser534Gly, NP_001353145.1:p.Ser516Gly, NP_001350794.1:p.Ser534Gly, NP_001353132.1:p.Ser516Gly, NP_001091894.1:p.Ser567Gly, NP_001191315.1:p.Ser534Gly, NP_001353135.1:p.Ser516Gly, NP_001353137.1:p.Ser534Gly, NP_001353136.1:p.Ser534Gly, NP_001353134.1:p.Ser534Gly, NP_001353133.1:p.Ser534Gly, NP_001353150.1:p.Ser484Gly, NP_001353151.1:p.Ser484Gly, XP_005269346.1:p.Ser567Gly, XP_011510804.1:p.Ser567Gly, XP_016861300.1:p.Ser516Gly, XP_016861310.1:p.Ser484Gly, XP_016861312.1:p.Ser451Gly, XP_016861289.1:p.Ser567Gly, XP_016861292.1:p.Ser567Gly, XP_016861291.1:p.Ser567Gly, XP_016861290.1:p.Ser567Gly, XP_047303548.1:p.Ser567Gly, XP_047303549.1:p.Ser567Gly, XP_047303550.1:p.Ser534Gly

                        12.

                        rs1482059233 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:197130547 (GRCh38)
                          3:196857418 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:197130546:G:A
                          Gene:
                          DLG1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          A=0.000142/2 (TOMMO)
                          A=0.000546/1 (Korea1K)
                          HGVS:
                          NC_000003.12:g.197130547G>A, NC_000003.11:g.196857418G>A, NG_029099.1:g.173030C>T, NM_001290983.2:c.1244C>T, NM_001290983.1:c.1244C>T, NM_004087.2:c.1244C>T, NM_001204387.2:c.896C>T, NM_001204387.1:c.896C>T, NM_001204388.2:c.896C>T, NM_001204388.1:c.896C>T, NR_158765.1:n.1768C>T, NM_001366218.1:c.1244C>T, NM_001366215.1:c.1145C>T, NM_001366217.1:c.1145C>T, NM_001366214.1:c.1244C>T, NM_001366212.1:c.1145C>T, NR_158764.1:n.1639C>T, NM_001366219.1:c.1091C>T, NM_001366210.1:c.1145C>T, NM_001366213.1:c.1145C>T, NM_001366211.1:c.1145C>T, NM_001366220.1:c.1091C>T, NM_001366209.1:c.1145C>T, NM_001366216.1:c.1091C>T, NM_001363865.1:c.1145C>T, NM_001366203.1:c.1091C>T, NM_001098424.1:c.1244C>T, NM_001204386.1:c.1145C>T, NM_001366206.1:c.1091C>T, NM_001366208.1:c.1145C>T, NM_001366207.1:c.1145C>T, NM_001366205.1:c.1145C>T, NM_001366204.1:c.1145C>T, NR_158766.1:n.960C>T, NM_001366221.1:c.995C>T, NR_158767.1:n.960C>T, NM_001366222.1:c.995C>T, XM_005269289.5:c.1244C>T, XM_005269289.4:c.1244C>T, XM_005269289.3:c.1244C>T, XM_005269289.2:c.1244C>T, XM_005269289.1:c.1244C>T, XM_011512502.4:c.1244C>T, XM_011512502.3:c.1244C>T, XM_011512502.2:c.1244C>T, XM_011512502.1:c.1244C>T, XM_017005811.3:c.1091C>T, XM_017005811.2:c.1091C>T, XM_017005811.1:c.1091C>T, XM_017005821.3:c.995C>T, XM_017005821.2:c.995C>T, XM_017005821.1:c.995C>T, XM_017005823.3:c.896C>T, XM_017005823.2:c.896C>T, XM_017005823.1:c.896C>T, XM_017005800.2:c.1244C>T, XM_017005800.1:c.1244C>T, XM_017005803.2:c.1244C>T, XM_017005803.1:c.1244C>T, XM_017005802.2:c.1244C>T, XM_017005802.1:c.1244C>T, XM_017005801.2:c.1244C>T, XM_017005801.1:c.1244C>T, XM_047447592.1:c.1244C>T, XR_007095642.1:n.1738C>T, XR_007095643.1:n.1738C>T, XM_047447593.1:c.1244C>T, XM_047447594.1:c.1145C>T, NP_001277912.1:p.Ala415Val, NP_004078.2:p.Ala415Val, NP_001191316.1:p.Ala299Val, NP_001191317.1:p.Ala299Val, NP_001353147.1:p.Ala415Val, NP_001353144.1:p.Ala382Val, NP_001353146.1:p.Ala382Val, NP_001353143.1:p.Ala415Val, NP_001353141.1:p.Ala382Val, NP_001353148.1:p.Ala364Val, NP_001353139.1:p.Ala382Val, NP_001353142.1:p.Ala382Val, NP_001353140.1:p.Ala382Val, NP_001353149.1:p.Ala364Val, NP_001353138.1:p.Ala382Val, NP_001353145.1:p.Ala364Val, NP_001350794.1:p.Ala382Val, NP_001353132.1:p.Ala364Val, NP_001091894.1:p.Ala415Val, NP_001191315.1:p.Ala382Val, NP_001353135.1:p.Ala364Val, NP_001353137.1:p.Ala382Val, NP_001353136.1:p.Ala382Val, NP_001353134.1:p.Ala382Val, NP_001353133.1:p.Ala382Val, NP_001353150.1:p.Ala332Val, NP_001353151.1:p.Ala332Val, XP_005269346.1:p.Ala415Val, XP_011510804.1:p.Ala415Val, XP_016861300.1:p.Ala364Val, XP_016861310.1:p.Ala332Val, XP_016861312.1:p.Ala299Val, XP_016861289.1:p.Ala415Val, XP_016861292.1:p.Ala415Val, XP_016861291.1:p.Ala415Val, XP_016861290.1:p.Ala415Val, XP_047303548.1:p.Ala415Val, XP_047303549.1:p.Ala415Val, XP_047303550.1:p.Ala382Val

                          13.

                          rs1482015206 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:197115949 (GRCh38)
                            3:196842820 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:197115948:C:T
                            Gene:
                            DLG1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000016/4 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.197115949C>T, NC_000003.11:g.196842820C>T, NG_029099.1:g.187628G>A, NM_001290983.2:c.1520G>A, NM_001290983.1:c.1520G>A, NM_004087.2:c.1520G>A, NM_001204387.2:c.1172G>A, NM_001204387.1:c.1172G>A, NM_001204388.2:c.1172G>A, NM_001204388.1:c.1172G>A, NR_158765.1:n.2044G>A, NM_001366218.1:c.1520G>A, NM_001366215.1:c.1421G>A, NM_001366217.1:c.1421G>A, NM_001366214.1:c.1520G>A, NM_001366212.1:c.1421G>A, NR_158764.1:n.1915G>A, NM_001366219.1:c.1367G>A, NM_001366210.1:c.1421G>A, NM_001366213.1:c.1421G>A, NM_001366211.1:c.1421G>A, NM_001366220.1:c.1367G>A, NM_001366209.1:c.1421G>A, NM_001366216.1:c.1367G>A, NM_001363865.1:c.1421G>A, NM_001366203.1:c.1367G>A, NM_001098424.1:c.1520G>A, NM_001204386.1:c.1421G>A, NM_001366206.1:c.1367G>A, NM_001366208.1:c.1421G>A, NM_001366207.1:c.1421G>A, NM_001366205.1:c.1421G>A, NM_001366204.1:c.1421G>A, NR_158766.1:n.1236G>A, NM_001366221.1:c.1271G>A, NR_158767.1:n.1236G>A, NM_001366222.1:c.1271G>A, XM_005269289.5:c.1520G>A, XM_005269289.4:c.1520G>A, XM_005269289.3:c.1520G>A, XM_005269289.2:c.1520G>A, XM_005269289.1:c.1520G>A, XM_011512502.4:c.1520G>A, XM_011512502.3:c.1520G>A, XM_011512502.2:c.1520G>A, XM_011512502.1:c.1520G>A, XM_017005811.3:c.1367G>A, XM_017005811.2:c.1367G>A, XM_017005811.1:c.1367G>A, XM_017005821.3:c.1271G>A, XM_017005821.2:c.1271G>A, XM_017005821.1:c.1271G>A, XM_017005823.3:c.1172G>A, XM_017005823.2:c.1172G>A, XM_017005823.1:c.1172G>A, XM_017005800.2:c.1520G>A, XM_017005800.1:c.1520G>A, XM_017005803.2:c.1520G>A, XM_017005803.1:c.1520G>A, XM_017005802.2:c.1520G>A, XM_017005802.1:c.1520G>A, XM_017005801.2:c.1520G>A, XM_017005801.1:c.1520G>A, XM_047447592.1:c.1520G>A, XR_007095642.1:n.2014G>A, XR_007095643.1:n.2014G>A, XM_047447593.1:c.1520G>A, XM_047447594.1:c.1421G>A, NP_001277912.1:p.Arg507Lys, NP_004078.2:p.Arg507Lys, NP_001191316.1:p.Arg391Lys, NP_001191317.1:p.Arg391Lys, NP_001353147.1:p.Arg507Lys, NP_001353144.1:p.Arg474Lys, NP_001353146.1:p.Arg474Lys, NP_001353143.1:p.Arg507Lys, NP_001353141.1:p.Arg474Lys, NP_001353148.1:p.Arg456Lys, NP_001353139.1:p.Arg474Lys, NP_001353142.1:p.Arg474Lys, NP_001353140.1:p.Arg474Lys, NP_001353149.1:p.Arg456Lys, NP_001353138.1:p.Arg474Lys, NP_001353145.1:p.Arg456Lys, NP_001350794.1:p.Arg474Lys, NP_001353132.1:p.Arg456Lys, NP_001091894.1:p.Arg507Lys, NP_001191315.1:p.Arg474Lys, NP_001353135.1:p.Arg456Lys, NP_001353137.1:p.Arg474Lys, NP_001353136.1:p.Arg474Lys, NP_001353134.1:p.Arg474Lys, NP_001353133.1:p.Arg474Lys, NP_001353150.1:p.Arg424Lys, NP_001353151.1:p.Arg424Lys, XP_005269346.1:p.Arg507Lys, XP_011510804.1:p.Arg507Lys, XP_016861300.1:p.Arg456Lys, XP_016861310.1:p.Arg424Lys, XP_016861312.1:p.Arg391Lys, XP_016861289.1:p.Arg507Lys, XP_016861292.1:p.Arg507Lys, XP_016861291.1:p.Arg507Lys, XP_016861290.1:p.Arg507Lys, XP_047303548.1:p.Arg507Lys, XP_047303549.1:p.Arg507Lys, XP_047303550.1:p.Arg474Lys

                            14.

                            rs1481491870 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:197149786 (GRCh38)
                              3:196876657 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:197149785:G:A
                              Gene:
                              DLG1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.197149786G>A, NC_000003.11:g.196876657G>A, NG_029099.1:g.153791C>T, NM_001290983.2:c.593C>T, NM_001290983.1:c.593C>T, NM_004087.2:c.593C>T, NM_001204387.2:c.245C>T, NM_001204387.1:c.245C>T, NM_001204388.2:c.245C>T, NM_001204388.1:c.245C>T, NR_158765.1:n.1117C>T, NM_001366218.1:c.593C>T, NM_001366215.1:c.494C>T, NM_001366217.1:c.494C>T, NM_001366214.1:c.593C>T, NM_001366212.1:c.494C>T, NR_158764.1:n.988C>T, NM_001366210.1:c.494C>T, NM_001366213.1:c.494C>T, NM_001366211.1:c.494C>T, NM_001366209.1:c.494C>T, NM_001363865.1:c.494C>T, NM_001098424.1:c.593C>T, NM_001204386.1:c.494C>T, NM_001366208.1:c.494C>T, NM_001366207.1:c.494C>T, NM_001366205.1:c.494C>T, NM_001366204.1:c.494C>T, NR_158766.1:n.309C>T, NM_001366221.1:c.344C>T, NR_158767.1:n.309C>T, NM_001366222.1:c.344C>T, XM_005269289.5:c.593C>T, XM_005269289.4:c.593C>T, XM_005269289.3:c.593C>T, XM_005269289.2:c.593C>T, XM_005269289.1:c.593C>T, XM_011512502.4:c.593C>T, XM_011512502.3:c.593C>T, XM_011512502.2:c.593C>T, XM_011512502.1:c.593C>T, XM_017005821.3:c.344C>T, XM_017005821.2:c.344C>T, XM_017005821.1:c.344C>T, XM_017005823.3:c.245C>T, XM_017005823.2:c.245C>T, XM_017005823.1:c.245C>T, XM_017005800.2:c.593C>T, XM_017005800.1:c.593C>T, XM_017005803.2:c.593C>T, XM_017005803.1:c.593C>T, XM_017005802.2:c.593C>T, XM_017005802.1:c.593C>T, XM_017005801.2:c.593C>T, XM_017005801.1:c.593C>T, XM_047447592.1:c.593C>T, XR_007095642.1:n.1087C>T, XR_007095643.1:n.1087C>T, XM_047447593.1:c.593C>T, XM_047447594.1:c.494C>T, NP_001277912.1:p.Pro198Leu, NP_004078.2:p.Pro198Leu, NP_001191316.1:p.Pro82Leu, NP_001191317.1:p.Pro82Leu, NP_001353147.1:p.Pro198Leu, NP_001353144.1:p.Pro165Leu, NP_001353146.1:p.Pro165Leu, NP_001353143.1:p.Pro198Leu, NP_001353141.1:p.Pro165Leu, NP_001353139.1:p.Pro165Leu, NP_001353142.1:p.Pro165Leu, NP_001353140.1:p.Pro165Leu, NP_001353138.1:p.Pro165Leu, NP_001350794.1:p.Pro165Leu, NP_001091894.1:p.Pro198Leu, NP_001191315.1:p.Pro165Leu, NP_001353137.1:p.Pro165Leu, NP_001353136.1:p.Pro165Leu, NP_001353134.1:p.Pro165Leu, NP_001353133.1:p.Pro165Leu, NP_001353150.1:p.Pro115Leu, NP_001353151.1:p.Pro115Leu, XP_005269346.1:p.Pro198Leu, XP_011510804.1:p.Pro198Leu, XP_016861310.1:p.Pro115Leu, XP_016861312.1:p.Pro82Leu, XP_016861289.1:p.Pro198Leu, XP_016861292.1:p.Pro198Leu, XP_016861291.1:p.Pro198Leu, XP_016861290.1:p.Pro198Leu, XP_047303548.1:p.Pro198Leu, XP_047303549.1:p.Pro198Leu, XP_047303550.1:p.Pro165Leu

                              15.

                              rs1480410628 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                3:197042796 (GRCh38)
                                3:196769667 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:197042795:T:A,NC_000003.12:197042795:T:C
                                Gene:
                                DLG1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                C=0.000071/1 (TOMMO)
                                HGVS:
                                NC_000003.12:g.197042796T>A, NC_000003.12:g.197042796T>C, NC_000003.11:g.196769667T>A, NC_000003.11:g.196769667T>C, NG_029099.1:g.260781A>T, NG_029099.1:g.260781A>G, NM_001290983.2:c.*1827A>T, NM_001290983.2:c.*1827A>G, NM_001290983.1:c.*1827A>T, NM_001290983.1:c.*1827A>G, NM_004087.2:c.*1827A>T, NM_004087.2:c.*1827A>G, NM_001204387.2:c.*1827A>T, NM_001204387.2:c.*1827A>G, NM_001204387.1:c.*1827A>T, NM_001204387.1:c.*1827A>G, NM_001204388.2:c.*1827A>T, NM_001204388.2:c.*1827A>G, NM_001204388.1:c.*1827A>T, NM_001204388.1:c.*1827A>G, NR_158765.1:n.5166A>T, NR_158765.1:n.5166A>G, NM_001366218.1:c.*1827A>T, NM_001366218.1:c.*1827A>G, NM_001366215.1:c.*1827A>T, NM_001366215.1:c.*1827A>G, NM_001366217.1:c.*1827A>T, NM_001366217.1:c.*1827A>G, NM_001366214.1:c.*1827A>T, NM_001366214.1:c.*1827A>G, NM_001366212.1:c.*1827A>T, NM_001366212.1:c.*1827A>G, NR_158764.1:n.5037A>T, NR_158764.1:n.5037A>G, NM_001366219.1:c.*1827A>T, NM_001366219.1:c.*1827A>G, NM_001366210.1:c.*1827A>T, NM_001366210.1:c.*1827A>G, NM_001366213.1:c.*1827A>T, NM_001366213.1:c.*1827A>G, NM_001366211.1:c.*1827A>T, NM_001366211.1:c.*1827A>G, NM_001366220.1:c.*1827A>T, NM_001366220.1:c.*1827A>G, NM_001366209.1:c.*1827A>T, NM_001366209.1:c.*1827A>G, NM_001366216.1:c.*1827A>T, NM_001366216.1:c.*1827A>G, NM_001363865.1:c.*1827A>T, NM_001363865.1:c.*1827A>G, NM_001366203.1:c.*1827A>T, NM_001366203.1:c.*1827A>G, NM_001098424.1:c.*1827A>T, NM_001098424.1:c.*1827A>G, NM_001204386.1:c.*1827A>T, NM_001204386.1:c.*1827A>G, NM_001366206.1:c.*1827A>T, NM_001366206.1:c.*1827A>G, NM_001366208.1:c.*1827A>T, NM_001366208.1:c.*1827A>G, NM_001366207.1:c.*1827A>T, NM_001366207.1:c.*1827A>G, NM_001366205.1:c.*1827A>T, NM_001366205.1:c.*1827A>G, NM_001366204.1:c.*1827A>T, NM_001366204.1:c.*1827A>G, NR_158766.1:n.4394A>T, NR_158766.1:n.4394A>G, NM_001366221.1:c.*1827A>T, NM_001366221.1:c.*1827A>G, NR_158767.1:n.4391A>T, NR_158767.1:n.4391A>G, NM_001366222.1:c.*1827A>T, NM_001366222.1:c.*1827A>G, XM_005269289.5:c.*1827A>T, XM_005269289.5:c.*1827A>G, XM_005269289.4:c.*1827A>T, XM_005269289.4:c.*1827A>G, XM_005269289.3:c.*1827A>T, XM_005269289.3:c.*1827A>G, XM_005269289.2:c.*1827A>T, XM_005269289.2:c.*1827A>G, XM_005269289.1:c.*1827A>T, XM_005269289.1:c.*1827A>G, XM_011512502.4:c.*1827A>T, XM_011512502.4:c.*1827A>G, XM_011512502.2:c.*1827A>T, XM_011512502.2:c.*1827A>G, XM_011512502.1:c.*1827A>T, XM_011512502.1:c.*1827A>G, XM_017005811.3:c.*1827A>T, XM_017005811.3:c.*1827A>G, XM_017005811.2:c.*1827A>T, XM_017005811.2:c.*1827A>G, XM_017005811.1:c.*1827A>T, XM_017005811.1:c.*1827A>G, XM_017005821.3:c.*1827A>T, XM_017005821.3:c.*1827A>G, XM_017005821.2:c.*1827A>T, XM_017005821.2:c.*1827A>G, XM_017005821.1:c.*1827A>T, XM_017005821.1:c.*1827A>G, XM_017005823.3:c.*1827A>T, XM_017005823.3:c.*1827A>G, XM_017005823.2:c.*1827A>T, XM_017005823.2:c.*1827A>G, XM_017005823.1:c.*1827A>T, XM_017005823.1:c.*1827A>G, XM_017005800.2:c.*1827A>T, XM_017005800.2:c.*1827A>G, XM_017005800.1:c.*1827A>T, XM_017005800.1:c.*1827A>G, XM_017005803.2:c.*1827A>T, XM_017005803.2:c.*1827A>G, XM_017005802.2:c.*1827A>T, XM_017005802.2:c.*1827A>G, XM_017005802.1:c.*1827A>T, XM_017005802.1:c.*1827A>G, XM_017005801.2:c.*1827A>T, XM_017005801.2:c.*1827A>G, XM_017005801.1:c.*1827A>T, XM_017005801.1:c.*1827A>G

                                16.

                                rs1480320109 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:197043630 (GRCh38)
                                  3:196770501 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:197043629:G:C
                                  Gene:
                                  DLG1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.197043630G>C, NC_000003.11:g.196770501G>C, NG_029099.1:g.259947C>G, NM_001290983.2:c.*993C>G, NM_001290983.1:c.*993C>G, NM_004087.2:c.*993C>G, NM_001204387.2:c.*993C>G, NM_001204387.1:c.*993C>G, NM_001204388.2:c.*993C>G, NM_001204388.1:c.*993C>G, NR_158765.1:n.4332C>G, NM_001366218.1:c.*993C>G, NM_001366215.1:c.*993C>G, NM_001366217.1:c.*993C>G, NM_001366214.1:c.*993C>G, NM_001366212.1:c.*993C>G, NR_158764.1:n.4203C>G, NM_001366219.1:c.*993C>G, NM_001366210.1:c.*993C>G, NM_001366213.1:c.*993C>G, NM_001366211.1:c.*993C>G, NM_001366220.1:c.*993C>G, NM_001366209.1:c.*993C>G, NM_001366216.1:c.*993C>G, NM_001363865.1:c.*993C>G, NM_001366203.1:c.*993C>G, NM_001098424.1:c.*993C>G, NM_001204386.1:c.*993C>G, NM_001366206.1:c.*993C>G, NM_001366208.1:c.*993C>G, NM_001366207.1:c.*993C>G, NM_001366205.1:c.*993C>G, NM_001366204.1:c.*993C>G, NR_158766.1:n.3560C>G, NM_001366221.1:c.*993C>G, NR_158767.1:n.3557C>G, NM_001366222.1:c.*993C>G, XM_005269289.5:c.*993C>G, XM_005269289.4:c.*993C>G, XM_005269289.3:c.*993C>G, XM_005269289.2:c.*993C>G, XM_005269289.1:c.*993C>G, XM_011512502.4:c.*993C>G, XM_011512502.3:c.*993C>G, XM_011512502.2:c.*993C>G, XM_011512502.1:c.*993C>G, XM_017005811.3:c.*993C>G, XM_017005811.2:c.*993C>G, XM_017005811.1:c.*993C>G, XM_017005821.3:c.*993C>G, XM_017005821.2:c.*993C>G, XM_017005821.1:c.*993C>G, XM_017005823.3:c.*993C>G, XM_017005823.2:c.*993C>G, XM_017005823.1:c.*993C>G, XM_017005800.2:c.*993C>G, XM_017005800.1:c.*993C>G, XM_017005803.2:c.*993C>G, XM_017005803.1:c.*993C>G, XM_017005802.2:c.*993C>G, XM_017005802.1:c.*993C>G, XM_017005801.2:c.*993C>G, XM_017005801.1:c.*993C>G

                                  17.

                                  rs1479511896 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTGTGGGGAAAT>- [Show Flanks]
                                    Chromosome:
                                    3:197194536 (GRCh38)
                                    3:196921407 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:197194533:ATTTGTGGGGAAAT:AT
                                    Gene:
                                    DLG1 (Varview)
                                    Functional Consequence:
                                    inframe_deletion,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AT=0./0 (ALFA)
                                    -=0./0 (GnomAD)
                                    -=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.197194536_197194547del, NC_000003.11:g.196921407_196921418del, NG_029099.1:g.109032_109043del, NM_001290983.2:c.363_374del, NM_001290983.1:c.363_374del, NM_004087.2:c.363_374del, NR_158765.1:n.986_997del, NM_001366218.1:c.363_374del, NM_001366215.1:c.363_374del, NM_001366217.1:c.363_374del, NM_001366214.1:c.363_374del, NM_001366212.1:c.363_374del, NR_158764.1:n.857_868del, NM_001366219.1:c.363_374del, NM_001366210.1:c.363_374del, NM_001366213.1:c.363_374del, NM_001366211.1:c.363_374del, NM_001366220.1:c.363_374del, NM_001366209.1:c.363_374del, NM_001366216.1:c.363_374del, NM_001363865.1:c.363_374del, NM_001366203.1:c.363_374del, NM_001098424.1:c.363_374del, NM_001204386.1:c.363_374del, NM_001366206.1:c.363_374del, NM_001366208.1:c.363_374del, NM_001366207.1:c.363_374del, NM_001366205.1:c.363_374del, NM_001366204.1:c.363_374del, XM_005269289.5:c.363_374del, XM_005269289.4:c.363_374del, XM_005269289.3:c.363_374del, XM_005269289.2:c.363_374del, XM_005269289.1:c.363_374del, XM_011512502.4:c.363_374del, XM_011512502.3:c.363_374del, XM_011512502.2:c.363_374del, XM_011512502.1:c.363_374del, XM_017005811.3:c.363_374del, XM_017005811.2:c.363_374del, XM_017005811.1:c.363_374del, XM_017005800.2:c.363_374del, XM_017005800.1:c.363_374del, XM_017005803.2:c.363_374del, XM_017005803.1:c.363_374del, XM_017005802.2:c.363_374del, XM_017005802.1:c.363_374del, XM_017005801.2:c.363_374del, XM_017005801.1:c.363_374del, XM_047447592.1:c.363_374del, XR_007095642.1:n.857_868del, XR_007095643.1:n.857_868del, XM_047447593.1:c.363_374del, XM_047447594.1:c.363_374del, NP_001277912.1:p.Ser122_Ile125del, NP_004078.2:p.Ser122_Ile125del, NP_001353147.1:p.Ser122_Ile125del, NP_001353144.1:p.Ser122_Ile125del, NP_001353146.1:p.Ser122_Ile125del, NP_001353143.1:p.Ser122_Ile125del, NP_001353141.1:p.Ser122_Ile125del, NP_001353148.1:p.Ser122_Ile125del, NP_001353139.1:p.Ser122_Ile125del, NP_001353142.1:p.Ser122_Ile125del, NP_001353140.1:p.Ser122_Ile125del, NP_001353149.1:p.Ser122_Ile125del, NP_001353138.1:p.Ser122_Ile125del, NP_001353145.1:p.Ser122_Ile125del, NP_001350794.1:p.Ser122_Ile125del, NP_001353132.1:p.Ser122_Ile125del, NP_001091894.1:p.Ser122_Ile125del, NP_001191315.1:p.Ser122_Ile125del, NP_001353135.1:p.Ser122_Ile125del, NP_001353137.1:p.Ser122_Ile125del, NP_001353136.1:p.Ser122_Ile125del, NP_001353134.1:p.Ser122_Ile125del, NP_001353133.1:p.Ser122_Ile125del, XP_005269346.1:p.Ser122_Ile125del, XP_011510804.1:p.Ser122_Ile125del, XP_016861300.1:p.Ser122_Ile125del, XP_016861289.1:p.Ser122_Ile125del, XP_016861292.1:p.Ser122_Ile125del, XP_016861291.1:p.Ser122_Ile125del, XP_016861290.1:p.Ser122_Ile125del, XP_047303548.1:p.Ser122_Ile125del, XP_047303549.1:p.Ser122_Ile125del, XP_047303550.1:p.Ser122_Ile125del

                                    18.

                                    rs1478869912 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      3:197136607 (GRCh38)
                                      3:196863478 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:197136606:T:G
                                      Gene:
                                      DLG1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.197136607T>G, NC_000003.11:g.196863478T>G, NG_029099.1:g.166970A>C, NM_001290983.2:c.1054A>C, NM_001290983.1:c.1054A>C, NM_004087.2:c.1054A>C, NM_001204387.2:c.706A>C, NM_001204387.1:c.706A>C, NM_001204388.2:c.706A>C, NM_001204388.1:c.706A>C, NR_158765.1:n.1578A>C, NM_001366218.1:c.1054A>C, NM_001366215.1:c.955A>C, NM_001366217.1:c.955A>C, NM_001366214.1:c.1054A>C, NM_001366212.1:c.955A>C, NR_158764.1:n.1449A>C, NM_001366219.1:c.901A>C, NM_001366210.1:c.955A>C, NM_001366213.1:c.955A>C, NM_001366211.1:c.955A>C, NM_001366220.1:c.901A>C, NM_001366209.1:c.955A>C, NM_001366216.1:c.901A>C, NM_001363865.1:c.955A>C, NM_001366203.1:c.901A>C, NM_001098424.1:c.1054A>C, NM_001204386.1:c.955A>C, NM_001366206.1:c.901A>C, NM_001366208.1:c.955A>C, NM_001366207.1:c.955A>C, NM_001366205.1:c.955A>C, NM_001366204.1:c.955A>C, NR_158766.1:n.770A>C, NM_001366221.1:c.805A>C, NR_158767.1:n.770A>C, NM_001366222.1:c.805A>C, XM_005269289.5:c.1054A>C, XM_005269289.4:c.1054A>C, XM_005269289.3:c.1054A>C, XM_005269289.2:c.1054A>C, XM_005269289.1:c.1054A>C, XM_011512502.4:c.1054A>C, XM_011512502.3:c.1054A>C, XM_011512502.2:c.1054A>C, XM_011512502.1:c.1054A>C, XM_017005811.3:c.901A>C, XM_017005811.2:c.901A>C, XM_017005811.1:c.901A>C, XM_017005821.3:c.805A>C, XM_017005821.2:c.805A>C, XM_017005821.1:c.805A>C, XM_017005823.3:c.706A>C, XM_017005823.2:c.706A>C, XM_017005823.1:c.706A>C, XM_017005800.2:c.1054A>C, XM_017005800.1:c.1054A>C, XM_017005803.2:c.1054A>C, XM_017005803.1:c.1054A>C, XM_017005802.2:c.1054A>C, XM_017005802.1:c.1054A>C, XM_017005801.2:c.1054A>C, XM_017005801.1:c.1054A>C, XM_047447592.1:c.1054A>C, XR_007095642.1:n.1548A>C, XR_007095643.1:n.1548A>C, XM_047447593.1:c.1054A>C, XM_047447594.1:c.955A>C, NP_001277912.1:p.Lys352Gln, NP_004078.2:p.Lys352Gln, NP_001191316.1:p.Lys236Gln, NP_001191317.1:p.Lys236Gln, NP_001353147.1:p.Lys352Gln, NP_001353144.1:p.Lys319Gln, NP_001353146.1:p.Lys319Gln, NP_001353143.1:p.Lys352Gln, NP_001353141.1:p.Lys319Gln, NP_001353148.1:p.Lys301Gln, NP_001353139.1:p.Lys319Gln, NP_001353142.1:p.Lys319Gln, NP_001353140.1:p.Lys319Gln, NP_001353149.1:p.Lys301Gln, NP_001353138.1:p.Lys319Gln, NP_001353145.1:p.Lys301Gln, NP_001350794.1:p.Lys319Gln, NP_001353132.1:p.Lys301Gln, NP_001091894.1:p.Lys352Gln, NP_001191315.1:p.Lys319Gln, NP_001353135.1:p.Lys301Gln, NP_001353137.1:p.Lys319Gln, NP_001353136.1:p.Lys319Gln, NP_001353134.1:p.Lys319Gln, NP_001353133.1:p.Lys319Gln, NP_001353150.1:p.Lys269Gln, NP_001353151.1:p.Lys269Gln, XP_005269346.1:p.Lys352Gln, XP_011510804.1:p.Lys352Gln, XP_016861300.1:p.Lys301Gln, XP_016861310.1:p.Lys269Gln, XP_016861312.1:p.Lys236Gln, XP_016861289.1:p.Lys352Gln, XP_016861292.1:p.Lys352Gln, XP_016861291.1:p.Lys352Gln, XP_016861290.1:p.Lys352Gln, XP_047303548.1:p.Lys352Gln, XP_047303549.1:p.Lys352Gln, XP_047303550.1:p.Lys319Gln

                                      19.

                                      rs1478761741 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:197044723 (GRCh38)
                                        3:196771594 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:197044722:A:G
                                        Gene:
                                        DLG1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.197044723A>G, NC_000003.11:g.196771594A>G, NG_029099.1:g.258854T>C, NM_001290983.2:c.2615T>C, NM_001290983.1:c.2615T>C, NM_004087.2:c.2681T>C, NM_001204387.2:c.2303T>C, NM_001204387.1:c.2303T>C, NM_001204388.2:c.2267T>C, NM_001204388.1:c.2267T>C, NR_158765.1:n.3239T>C, NM_001366218.1:c.2615T>C, NM_001366215.1:c.2582T>C, NM_001366217.1:c.2552T>C, NM_001366214.1:c.2678T>C, NM_001366212.1:c.2516T>C, NR_158764.1:n.3110T>C, NM_001366219.1:c.2462T>C, NM_001366210.1:c.2582T>C, NM_001366213.1:c.2579T>C, NM_001366211.1:c.2552T>C, NM_001366220.1:c.2525T>C, NM_001366209.1:c.2516T>C, NM_001366216.1:c.2462T>C, NM_001363865.1:c.2582T>C, NM_001366203.1:c.2498T>C, NM_001098424.1:c.2615T>C, NM_001204386.1:c.2579T>C, NM_001366206.1:c.2528T>C, NM_001366208.1:c.2516T>C, NM_001366207.1:c.2582T>C, NM_001366205.1:c.2579T>C, NM_001366204.1:c.2516T>C, NR_158766.1:n.2467T>C, NM_001366221.1:c.2402T>C, NR_158767.1:n.2464T>C, NM_001366222.1:c.2366T>C, XM_005269289.5:c.2681T>C, XM_005269289.4:c.2681T>C, XM_005269289.3:c.2681T>C, XM_005269289.2:c.2681T>C, XM_005269289.1:c.2681T>C, XM_011512502.4:c.2615T>C, XM_011512502.3:c.2615T>C, XM_011512502.2:c.2615T>C, XM_011512502.1:c.2615T>C, XM_017005811.3:c.2528T>C, XM_017005811.2:c.2528T>C, XM_017005811.1:c.2528T>C, XM_017005821.3:c.2432T>C, XM_017005821.2:c.2432T>C, XM_017005821.1:c.2432T>C, XM_017005823.3:c.2333T>C, XM_017005823.2:c.2333T>C, XM_017005823.1:c.2333T>C, XM_017005800.2:c.2681T>C, XM_017005800.1:c.2681T>C, XM_017005803.2:c.2681T>C, XM_017005803.1:c.2681T>C, XM_017005802.2:c.2681T>C, XM_017005802.1:c.2681T>C, XM_017005801.2:c.2681T>C, XM_017005801.1:c.2681T>C, NP_001277912.1:p.Val872Ala, NP_004078.2:p.Val894Ala, NP_001191316.1:p.Val768Ala, NP_001191317.1:p.Val756Ala, NP_001353147.1:p.Val872Ala, NP_001353144.1:p.Val861Ala, NP_001353146.1:p.Val851Ala, NP_001353143.1:p.Val893Ala, NP_001353141.1:p.Val839Ala, NP_001353148.1:p.Val821Ala, NP_001353139.1:p.Val861Ala, NP_001353142.1:p.Val860Ala, NP_001353140.1:p.Val851Ala, NP_001353149.1:p.Val842Ala, NP_001353138.1:p.Val839Ala, NP_001353145.1:p.Val821Ala, NP_001350794.1:p.Val861Ala, NP_001353132.1:p.Val833Ala, NP_001091894.1:p.Val872Ala, NP_001191315.1:p.Val860Ala, NP_001353135.1:p.Val843Ala, NP_001353137.1:p.Val839Ala, NP_001353136.1:p.Val861Ala, NP_001353134.1:p.Val860Ala, NP_001353133.1:p.Val839Ala, NP_001353150.1:p.Val801Ala, NP_001353151.1:p.Val789Ala, XP_005269346.1:p.Val894Ala, XP_011510804.1:p.Val872Ala, XP_016861300.1:p.Val843Ala, XP_016861310.1:p.Val811Ala, XP_016861312.1:p.Val778Ala, XP_016861289.1:p.Val894Ala, XP_016861292.1:p.Val894Ala, XP_016861291.1:p.Val894Ala, XP_016861290.1:p.Val894Ala

                                        20.

                                        rs1478596224 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          3:197161730 (GRCh38)
                                          3:196888601 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:197161729:T:A
                                          Gene:
                                          DLG1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.197161730T>A, NC_000003.11:g.196888601T>A, NG_029099.1:g.141847A>T, NM_001290983.2:c.492A>T, NM_001290983.1:c.492A>T, NM_004087.2:c.492A>T, NM_001366218.1:c.492A>T, NM_001366214.1:c.492A>T, NM_001098424.1:c.492A>T, NM_001366221.1:c.243A>T, NM_001366222.1:c.243A>T, XM_005269289.5:c.492A>T, XM_005269289.4:c.492A>T, XM_005269289.3:c.492A>T, XM_005269289.2:c.492A>T, XM_005269289.1:c.492A>T, XM_011512502.4:c.492A>T, XM_011512502.3:c.492A>T, XM_011512502.2:c.492A>T, XM_011512502.1:c.492A>T, XM_017005821.3:c.243A>T, XM_017005821.2:c.243A>T, XM_017005821.1:c.243A>T, XM_017005800.2:c.492A>T, XM_017005800.1:c.492A>T, XM_017005803.2:c.492A>T, XM_017005803.1:c.492A>T, XM_017005802.2:c.492A>T, XM_017005802.1:c.492A>T, XM_017005801.2:c.492A>T, XM_017005801.1:c.492A>T, XM_047447592.1:c.492A>T, XR_007095642.1:n.986A>T, XR_007095643.1:n.986A>T, XM_047447593.1:c.492A>T, NP_001277912.1:p.Glu164Asp, NP_004078.2:p.Glu164Asp, NP_001353147.1:p.Glu164Asp, NP_001353143.1:p.Glu164Asp, NP_001091894.1:p.Glu164Asp, NP_001353150.1:p.Glu81Asp, NP_001353151.1:p.Glu81Asp, XP_005269346.1:p.Glu164Asp, XP_011510804.1:p.Glu164Asp, XP_016861310.1:p.Glu81Asp, XP_016861289.1:p.Glu164Asp, XP_016861292.1:p.Glu164Asp, XP_016861291.1:p.Glu164Asp, XP_016861290.1:p.Glu164Asp, XP_047303548.1:p.Glu164Asp, XP_047303549.1:p.Glu164Asp

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