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Items: 1 to 20 of 699

1.

rs1489433604 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:45928956 (GRCh38)
    11:45950507 (GRCh37)
    Canonical SPDI:
    NC_000011.10:45928955:A:G
    Gene:
    PHF21A (Varview), LARGE2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.45928956A>G, NC_000011.9:g.45950507A>G, NM_152312.5:c.*111A>G, NM_152312.4:c.*111A>G, NM_152312.3:c.*111A>G, XM_011519892.3:c.*404A>G, XM_011519886.2:c.*111A>G, XM_011519886.1:c.*111A>G, NM_001300721.2:c.*111A>G, NM_001300721.1:c.*111A>G, XM_011519889.2:c.*111A>G, XM_011519889.1:c.*111A>G, XM_011519888.2:c.*32A>G, XM_011519888.1:c.*32A>G, XM_006718140.2:c.*111A>G, XM_006718140.1:c.*111A>G, NM_001300722.2:c.*111A>G, NM_001300722.1:c.*111A>G, XM_011519890.2:c.*32A>G, XM_011519890.1:c.*32A>G, XM_011519891.2:c.*32A>G, XM_011519891.1:c.*32A>G, XM_011519893.2:c.*319A>G, XM_011519893.1:c.*319A>G, XM_005252787.2:c.*111A>G, XM_005252787.1:c.*111A>G, XM_047426344.1:c.*32A>G, XM_047426348.1:c.*404A>G, XM_047426347.1:c.*319A>G, XM_047426345.1:c.*32A>G, XM_047426349.1:c.*319A>G, XM_047426346.1:c.*32A>G

    2.

    rs1487875044 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:45928915 (GRCh38)
      11:45950466 (GRCh37)
      Canonical SPDI:
      NC_000011.10:45928914:T:C
      Gene:
      PHF21A (Varview), LARGE2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000011.10:g.45928915T>C, NC_000011.9:g.45950466T>C, NM_152312.5:c.*70T>C, NM_152312.4:c.*70T>C, NM_152312.3:c.*70T>C, XM_011519892.3:c.*363T>C, XM_011519886.2:c.*70T>C, XM_011519886.1:c.*70T>C, NM_001300721.2:c.*70T>C, NM_001300721.1:c.*70T>C, XM_011519889.2:c.*70T>C, XM_011519889.1:c.*70T>C, XM_011519888.2:c.2151T>C, XM_011519888.1:c.2151T>C, XM_006718140.2:c.*70T>C, XM_006718140.1:c.*70T>C, NM_001300722.2:c.*70T>C, NM_001300722.1:c.*70T>C, XM_011519890.2:c.2106T>C, XM_011519890.1:c.2106T>C, XM_011519891.2:c.2040T>C, XM_011519891.1:c.2040T>C, XM_011519893.2:c.*278T>C, XM_011519893.1:c.*278T>C, XM_005252787.2:c.*70T>C, XM_005252787.1:c.*70T>C, XM_047426344.1:c.2277T>C, XM_047426348.1:c.*363T>C, XM_047426347.1:c.*278T>C, XM_047426345.1:c.2184T>C, XM_047426349.1:c.*278T>C, XM_047426346.1:c.2013T>C

      3.

      rs1485474958 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:45928965 (GRCh38)
        11:45950516 (GRCh37)
        Canonical SPDI:
        NC_000011.10:45928964:G:A
        Gene:
        PHF21A (Varview), LARGE2 (Varview)
        Functional Consequence:
        downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency
        MAF:
        A=0.00001/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.45928965G>A, NC_000011.9:g.45950516G>A, NM_152312.5:c.*120G>A, NM_152312.4:c.*120G>A, NM_152312.3:c.*120G>A, XM_011519892.3:c.*413G>A, XM_011519886.2:c.*120G>A, XM_011519886.1:c.*120G>A, NM_001300721.2:c.*120G>A, NM_001300721.1:c.*120G>A, XM_011519889.2:c.*120G>A, XM_011519889.1:c.*120G>A, XM_011519888.2:c.*41G>A, XM_011519888.1:c.*41G>A, XM_006718140.2:c.*120G>A, XM_006718140.1:c.*120G>A, NM_001300722.2:c.*120G>A, NM_001300722.1:c.*120G>A, XM_011519890.2:c.*41G>A, XM_011519890.1:c.*41G>A, XM_011519891.2:c.*41G>A, XM_011519891.1:c.*41G>A, XM_011519893.2:c.*328G>A, XM_011519893.1:c.*328G>A, XM_005252787.2:c.*120G>A, XM_005252787.1:c.*120G>A, XM_047426344.1:c.*41G>A, XM_047426348.1:c.*413G>A, XM_047426347.1:c.*328G>A, XM_047426345.1:c.*41G>A, XM_047426349.1:c.*328G>A, XM_047426346.1:c.*41G>A

        4.

        rs1484774644 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:45928041 (GRCh38)
          11:45949592 (GRCh37)
          Canonical SPDI:
          NC_000011.10:45928040:C:A
          Gene:
          LARGE2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.45928041C>A, NC_000011.9:g.45949592C>A, NM_152312.5:c.1726C>A, NM_152312.4:c.1726C>A, NM_152312.3:c.1726C>A, XM_006718141.5:c.*208C>A, XM_006718141.4:c.*208C>A, XM_011519892.3:c.1726C>A, XM_011519892.2:c.1726C>A, XM_011519892.1:c.1726C>A, XM_011519886.2:c.1726C>A, XM_011519886.1:c.1726C>A, NM_001300721.2:c.1726C>A, NM_001300721.1:c.1726C>A, XM_011519889.2:c.1633C>A, XM_011519889.1:c.1633C>A, XM_011519888.2:c.1596C>A, XM_011519888.1:c.1596C>A, XM_006718140.2:c.1633C>A, XM_006718140.1:c.1633C>A, NM_001300722.2:c.1633C>A, NM_001300722.1:c.1633C>A, XM_011519890.2:c.1596C>A, XM_011519890.1:c.1596C>A, XM_011519891.2:c.1726C>A, XM_011519891.1:c.1726C>A, XM_011519893.2:c.1596C>A, XM_011519893.1:c.1596C>A, XM_005252787.2:c.1006C>A, XM_005252787.1:c.1006C>A, XM_047426344.1:c.1767C>A, XM_047426348.1:c.1633C>A, XM_047426347.1:c.1596C>A, XM_047426345.1:c.1674C>A, XM_047426349.1:c.1503C>A, XM_047426346.1:c.1503C>A, NP_689525.3:p.Leu576Met, XP_011518194.1:p.Leu576Met, XP_011518188.1:p.Leu576Met, NP_001287650.1:p.Leu576Met, XP_011518191.1:p.Leu545Met, XP_011518190.1:p.Cys532Ter, XP_006718203.1:p.Leu545Met, NP_001287651.1:p.Leu545Met, XP_011518192.1:p.Cys532Ter, XP_011518193.1:p.Leu576Met, XP_011518195.1:p.Cys532Ter, XP_005252844.1:p.Leu336Met, XP_047282300.1:p.Cys589Ter, XP_047282304.1:p.Leu545Met, XP_047282303.1:p.Cys532Ter, XP_047282301.1:p.Cys558Ter, XP_047282305.1:p.Cys501Ter, XP_047282302.1:p.Cys501Ter

          5.

          rs1484378124 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TGTGGAGAACCAGAGTGACT [Show Flanks]
            Chromosome:
            11:45924801 (GRCh38)
            11:45946353 (GRCh37)
            Canonical SPDI:
            NC_000011.10:45924801:CTTGTGGAGAACCAGAGTGACT:CTTGTGGAGAACCAGAGTGACTTGTGGAGAACCAGAGTGACT
            Gene:
            LARGE2 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant,inframe_indel,stop_gained
            Validated:
            by frequency
            MAF:
            CTTGTGGAGAACCAGAGTGA=0.000008/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.45924804_45924823dup, NC_000011.9:g.45946355_45946374dup, NM_152312.5:c.684_703dup, NM_152312.4:c.684_703dup, NM_152312.3:c.684_703dup, XM_006718141.5:c.684_703dup, XM_006718141.4:c.684_703dup, XM_006718141.3:c.684_703dup, XM_006718141.2:c.684_703dup, XM_006718141.1:c.684_703dup, XM_011519892.3:c.684_703dup, XM_011519892.2:c.684_703dup, XM_011519892.1:c.684_703dup, XM_011519886.2:c.684_703dup, XM_011519886.1:c.684_703dup, NM_001300721.2:c.684_703dup, NM_001300721.1:c.684_703dup, XM_011519889.2:c.591_610dup, XM_011519889.1:c.591_610dup, XM_011519888.2:c.684_703dup, XM_011519888.1:c.684_703dup, XM_006718140.2:c.591_610dup, XM_006718140.1:c.591_610dup, NM_001300722.2:c.591_610dup, NM_001300722.1:c.591_610dup, XM_011519890.2:c.684_703dup, XM_011519890.1:c.684_703dup, XM_011519891.2:c.684_703dup, XM_011519891.1:c.684_703dup, XM_011519893.2:c.684_703dup, XM_011519893.1:c.684_703dup, XM_005252787.2:c.77_96dup, XM_005252787.1:c.77_96dup, XM_047426344.1:c.684_703dup, XM_047426348.1:c.591_610dup, XM_047426347.1:c.684_703dup, XM_047426345.1:c.591_610dup, XM_047426349.1:c.591_610dup, XM_047426346.1:c.591_610dup, NP_689525.3:p.Trp235fs, XP_006718204.1:p.Trp235fs, XP_011518194.1:p.Trp235fs, XP_011518188.1:p.Trp235fs, NP_001287650.1:p.Trp235fs, XP_011518191.1:p.Trp204fs, XP_011518190.1:p.Trp235fs, XP_006718203.1:p.Trp204fs, NP_001287651.1:p.Trp204fs, XP_011518192.1:p.Trp235fs, XP_011518193.1:p.Trp235fs, XP_011518195.1:p.Trp235fs, XP_005252844.1:p.Gly33delinsCysGlyGluProGluTer, XP_047282300.1:p.Trp235fs, XP_047282304.1:p.Trp204fs, XP_047282303.1:p.Trp235fs, XP_047282301.1:p.Trp204fs, XP_047282305.1:p.Trp204fs, XP_047282302.1:p.Trp204fs

            6.

            rs1482095063 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AGGCCTACATGTGGT [Show Flanks]
              Chromosome:
              11:45927456 (GRCh38)
              11:45949008 (GRCh37)
              Canonical SPDI:
              NC_000011.10:45927456:CATGTGGT:CATGTGGTAGGCCTACATGTGGT
              Gene:
              LARGE2 (Varview)
              Functional Consequence:
              inframe_insertion,coding_sequence_variant,stop_gained
              Validated:
              by frequency
              MAF:
              CATGTGGTAGGCCTA=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.45927464_45927465insAGGCCTACATGTGGT, NC_000011.9:g.45949015_45949016insAGGCCTACATGTGGT, NM_152312.5:c.1475_1476insAGGCCTACATGTGGT, NM_152312.4:c.1475_1476insAGGCCTACATGTGGT, NM_152312.3:c.1475_1476insAGGCCTACATGTGGT, XM_006718141.5:c.1475_1476insAGGCCTACATGTGGT, XM_006718141.4:c.1475_1476insAGGCCTACATGTGGT, XM_006718141.3:c.1475_1476insAGGCCTACATGTGGT, XM_006718141.2:c.1475_1476insAGGCCTACATGTGGT, XM_006718141.1:c.1475_1476insAGGCCTACATGTGGT, XM_011519892.3:c.1475_1476insAGGCCTACATGTGGT, XM_011519892.2:c.1475_1476insAGGCCTACATGTGGT, XM_011519892.1:c.1475_1476insAGGCCTACATGTGGT, XM_011519886.2:c.1475_1476insAGGCCTACATGTGGT, XM_011519886.1:c.1475_1476insAGGCCTACATGTGGT, NM_001300721.2:c.1475_1476insAGGCCTACATGTGGT, NM_001300721.1:c.1475_1476insAGGCCTACATGTGGT, XM_011519889.2:c.1382_1383insAGGCCTACATGTGGT, XM_011519889.1:c.1382_1383insAGGCCTACATGTGGT, XM_011519888.2:c.1345_1346insAGGCCTACATGTGGT, XM_011519888.1:c.1345_1346insAGGCCTACATGTGGT, XM_006718140.2:c.1382_1383insAGGCCTACATGTGGT, XM_006718140.1:c.1382_1383insAGGCCTACATGTGGT, NM_001300722.2:c.1382_1383insAGGCCTACATGTGGT, NM_001300722.1:c.1382_1383insAGGCCTACATGTGGT, XM_011519890.2:c.1345_1346insAGGCCTACATGTGGT, XM_011519890.1:c.1345_1346insAGGCCTACATGTGGT, XM_011519891.2:c.1475_1476insAGGCCTACATGTGGT, XM_011519891.1:c.1475_1476insAGGCCTACATGTGGT, XM_011519893.2:c.1345_1346insAGGCCTACATGTGGT, XM_011519893.1:c.1345_1346insAGGCCTACATGTGGT, XM_005252787.2:c.755_756insAGGCCTACATGTGGT, XM_005252787.1:c.755_756insAGGCCTACATGTGGT, XM_047426344.1:c.1345_1346insAGGCCTACATGTGGT, XM_047426348.1:c.1382_1383insAGGCCTACATGTGGT, XM_047426347.1:c.1345_1346insAGGCCTACATGTGGT, XM_047426345.1:c.1252_1253insAGGCCTACATGTGGT, XM_047426349.1:c.1252_1253insAGGCCTACATGTGGT, XM_047426346.1:c.1252_1253insAGGCCTACATGTGGT, NP_689525.3:p.Tyr493_Arg494insGlyLeuHisValVal, XP_006718204.1:p.Tyr493_Arg494insGlyLeuHisValVal, XP_011518194.1:p.Tyr493_Arg494insGlyLeuHisValVal, XP_011518188.1:p.Tyr493_Arg494insGlyLeuHisValVal, NP_001287650.1:p.Tyr493_Arg494insGlyLeuHisValVal, XP_011518191.1:p.Tyr462_Arg463insGlyLeuHisValVal, XP_011518190.1:p.Cys449Ter, XP_006718203.1:p.Tyr462_Arg463insGlyLeuHisValVal, NP_001287651.1:p.Tyr462_Arg463insGlyLeuHisValVal, XP_011518192.1:p.Cys449Ter, XP_011518193.1:p.Tyr493_Arg494insGlyLeuHisValVal, XP_011518195.1:p.Cys449Ter, XP_005252844.1:p.Tyr253_Arg254insGlyLeuHisValVal, XP_047282300.1:p.Cys449Ter, XP_047282304.1:p.Tyr462_Arg463insGlyLeuHisValVal, XP_047282303.1:p.Cys449Ter, XP_047282301.1:p.Cys418Ter, XP_047282305.1:p.Cys418Ter, XP_047282302.1:p.Cys418Ter

              7.

              rs1482064947 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:45926527 (GRCh38)
                11:45948078 (GRCh37)
                Canonical SPDI:
                NC_000011.10:45926526:A:G
                Gene:
                LARGE2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.45926527A>G, NC_000011.9:g.45948078A>G, NM_152312.5:c.1094A>G, NM_152312.4:c.1094A>G, NM_152312.3:c.1094A>G, XM_006718141.5:c.1094A>G, XM_006718141.4:c.1094A>G, XM_006718141.3:c.1094A>G, XM_006718141.2:c.1094A>G, XM_006718141.1:c.1094A>G, XM_011519892.3:c.1094A>G, XM_011519892.2:c.1094A>G, XM_011519892.1:c.1094A>G, XM_011519886.2:c.1094A>G, XM_011519886.1:c.1094A>G, NM_001300721.2:c.1094A>G, NM_001300721.1:c.1094A>G, XM_011519889.2:c.1001A>G, XM_011519889.1:c.1001A>G, XM_011519888.2:c.1094A>G, XM_011519888.1:c.1094A>G, XM_006718140.2:c.1001A>G, XM_006718140.1:c.1001A>G, NM_001300722.2:c.1001A>G, NM_001300722.1:c.1001A>G, XM_011519890.2:c.1094A>G, XM_011519890.1:c.1094A>G, XM_011519891.2:c.1094A>G, XM_011519891.1:c.1094A>G, XM_011519893.2:c.1094A>G, XM_011519893.1:c.1094A>G, XM_005252787.2:c.374A>G, XM_005252787.1:c.374A>G, XM_047426344.1:c.1094A>G, XM_047426348.1:c.1001A>G, XM_047426347.1:c.1094A>G, XM_047426345.1:c.1001A>G, XM_047426349.1:c.1001A>G, XM_047426346.1:c.1001A>G, NP_689525.3:p.Glu365Gly, XP_006718204.1:p.Glu365Gly, XP_011518194.1:p.Glu365Gly, XP_011518188.1:p.Glu365Gly, NP_001287650.1:p.Glu365Gly, XP_011518191.1:p.Glu334Gly, XP_011518190.1:p.Glu365Gly, XP_006718203.1:p.Glu334Gly, NP_001287651.1:p.Glu334Gly, XP_011518192.1:p.Glu365Gly, XP_011518193.1:p.Glu365Gly, XP_011518195.1:p.Glu365Gly, XP_005252844.1:p.Glu125Gly, XP_047282300.1:p.Glu365Gly, XP_047282304.1:p.Glu334Gly, XP_047282303.1:p.Glu365Gly, XP_047282301.1:p.Glu334Gly, XP_047282305.1:p.Glu334Gly, XP_047282302.1:p.Glu334Gly

                8.

                rs1480104748 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  11:45924833 (GRCh38)
                  11:45946384 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:45924832:G:A,NC_000011.10:45924832:G:T
                  Gene:
                  LARGE2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000008/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.45924833G>A, NC_000011.10:g.45924833G>T, NC_000011.9:g.45946384G>A, NC_000011.9:g.45946384G>T, NM_152312.5:c.713G>A, NM_152312.5:c.713G>T, NM_152312.4:c.713G>A, NM_152312.4:c.713G>T, NM_152312.3:c.713G>A, NM_152312.3:c.713G>T, XM_006718141.5:c.713G>A, XM_006718141.5:c.713G>T, XM_006718141.4:c.713G>A, XM_006718141.4:c.713G>T, XM_006718141.3:c.713G>A, XM_006718141.3:c.713G>T, XM_006718141.2:c.713G>A, XM_006718141.2:c.713G>T, XM_006718141.1:c.713G>A, XM_006718141.1:c.713G>T, XM_011519892.3:c.713G>A, XM_011519892.3:c.713G>T, XM_011519892.2:c.713G>A, XM_011519892.2:c.713G>T, XM_011519892.1:c.713G>A, XM_011519892.1:c.713G>T, XM_011519886.2:c.713G>A, XM_011519886.2:c.713G>T, XM_011519886.1:c.713G>A, XM_011519886.1:c.713G>T, NM_001300721.2:c.713G>A, NM_001300721.2:c.713G>T, NM_001300721.1:c.713G>A, NM_001300721.1:c.713G>T, XM_011519889.2:c.620G>A, XM_011519889.2:c.620G>T, XM_011519889.1:c.620G>A, XM_011519889.1:c.620G>T, XM_011519888.2:c.713G>A, XM_011519888.2:c.713G>T, XM_011519888.1:c.713G>A, XM_011519888.1:c.713G>T, XM_006718140.2:c.620G>A, XM_006718140.2:c.620G>T, XM_006718140.1:c.620G>A, XM_006718140.1:c.620G>T, NM_001300722.2:c.620G>A, NM_001300722.2:c.620G>T, NM_001300722.1:c.620G>A, NM_001300722.1:c.620G>T, XM_011519890.2:c.713G>A, XM_011519890.2:c.713G>T, XM_011519890.1:c.713G>A, XM_011519890.1:c.713G>T, XM_011519891.2:c.713G>A, XM_011519891.2:c.713G>T, XM_011519891.1:c.713G>A, XM_011519891.1:c.713G>T, XM_011519893.2:c.713G>A, XM_011519893.2:c.713G>T, XM_011519893.1:c.713G>A, XM_011519893.1:c.713G>T, XM_005252787.2:c.106G>A, XM_005252787.2:c.106G>T, XM_005252787.1:c.106G>A, XM_005252787.1:c.106G>T, XM_047426344.1:c.713G>A, XM_047426344.1:c.713G>T, XM_047426348.1:c.620G>A, XM_047426348.1:c.620G>T, XM_047426347.1:c.713G>A, XM_047426347.1:c.713G>T, XM_047426345.1:c.620G>A, XM_047426345.1:c.620G>T, XM_047426349.1:c.620G>A, XM_047426349.1:c.620G>T, XM_047426346.1:c.620G>A, XM_047426346.1:c.620G>T, NP_689525.3:p.Gly238Asp, NP_689525.3:p.Gly238Val, XP_006718204.1:p.Gly238Asp, XP_006718204.1:p.Gly238Val, XP_011518194.1:p.Gly238Asp, XP_011518194.1:p.Gly238Val, XP_011518188.1:p.Gly238Asp, XP_011518188.1:p.Gly238Val, NP_001287650.1:p.Gly238Asp, NP_001287650.1:p.Gly238Val, XP_011518191.1:p.Gly207Asp, XP_011518191.1:p.Gly207Val, XP_011518190.1:p.Gly238Asp, XP_011518190.1:p.Gly238Val, XP_006718203.1:p.Gly207Asp, XP_006718203.1:p.Gly207Val, NP_001287651.1:p.Gly207Asp, NP_001287651.1:p.Gly207Val, XP_011518192.1:p.Gly238Asp, XP_011518192.1:p.Gly238Val, XP_011518193.1:p.Gly238Asp, XP_011518193.1:p.Gly238Val, XP_011518195.1:p.Gly238Asp, XP_011518195.1:p.Gly238Val, XP_005252844.1:p.Ala36Thr, XP_005252844.1:p.Ala36Ser, XP_047282300.1:p.Gly238Asp, XP_047282300.1:p.Gly238Val, XP_047282304.1:p.Gly207Asp, XP_047282304.1:p.Gly207Val, XP_047282303.1:p.Gly238Asp, XP_047282303.1:p.Gly238Val, XP_047282301.1:p.Gly207Asp, XP_047282301.1:p.Gly207Val, XP_047282305.1:p.Gly207Asp, XP_047282305.1:p.Gly207Val, XP_047282302.1:p.Gly207Asp, XP_047282302.1:p.Gly207Val

                  9.

                  rs1477352762 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    11:45929013 (GRCh38)
                    11:45950564 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:45929012:C:G,NC_000011.10:45929012:C:T
                    Gene:
                    PHF21A (Varview), LARGE2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    G=0.001239/21 (TOMMO)
                    G=0.001712/5 (KOREAN)
                    HGVS:
                    NC_000011.10:g.45929013C>G, NC_000011.10:g.45929013C>T, NC_000011.9:g.45950564C>G, NC_000011.9:g.45950564C>T, NM_152312.5:c.*168C>G, NM_152312.5:c.*168C>T, NM_152312.4:c.*168C>G, NM_152312.4:c.*168C>T, NM_152312.3:c.*168C>G, NM_152312.3:c.*168C>T, XM_011519892.3:c.*461C>G, XM_011519892.3:c.*461C>T, XM_011519886.2:c.*168C>G, XM_011519886.2:c.*168C>T, XM_011519886.1:c.*168C>G, XM_011519886.1:c.*168C>T, NM_001300721.2:c.*168C>G, NM_001300721.2:c.*168C>T, NM_001300721.1:c.*168C>G, NM_001300721.1:c.*168C>T, XM_011519889.2:c.*168C>G, XM_011519889.2:c.*168C>T, XM_011519889.1:c.*168C>G, XM_011519889.1:c.*168C>T, XM_011519888.2:c.*89C>G, XM_011519888.2:c.*89C>T, XM_011519888.1:c.*89C>G, XM_011519888.1:c.*89C>T, XM_006718140.2:c.*168C>G, XM_006718140.2:c.*168C>T, XM_006718140.1:c.*168C>G, XM_006718140.1:c.*168C>T, NM_001300722.2:c.*168C>G, NM_001300722.2:c.*168C>T, NM_001300722.1:c.*168C>G, NM_001300722.1:c.*168C>T, XM_011519890.2:c.*89C>G, XM_011519890.2:c.*89C>T, XM_011519890.1:c.*89C>G, XM_011519890.1:c.*89C>T, XM_011519891.2:c.*89C>G, XM_011519891.2:c.*89C>T, XM_011519891.1:c.*89C>G, XM_011519891.1:c.*89C>T, XM_011519893.2:c.*376C>G, XM_011519893.2:c.*376C>T, XM_011519893.1:c.*376C>G, XM_011519893.1:c.*376C>T, XM_005252787.2:c.*168C>G, XM_005252787.2:c.*168C>T, XM_005252787.1:c.*168C>G, XM_005252787.1:c.*168C>T, XM_047426344.1:c.*89C>G, XM_047426344.1:c.*89C>T, XM_047426348.1:c.*461C>G, XM_047426348.1:c.*461C>T, XM_047426347.1:c.*376C>G, XM_047426347.1:c.*376C>T, XM_047426345.1:c.*89C>G, XM_047426345.1:c.*89C>T, XM_047426349.1:c.*376C>G, XM_047426349.1:c.*376C>T, XM_047426346.1:c.*89C>G, XM_047426346.1:c.*89C>T

                    10.

                    rs1477007063 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      11:45929022 (GRCh38)
                      11:45950573 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:45929021:CCCC:CCC
                      Gene:
                      PHF21A (Varview), LARGE2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CCC=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.45929025del, NC_000011.9:g.45950576del, NM_152312.5:c.*180del, NM_152312.4:c.*180del, NM_152312.3:c.*180del, XM_011519892.3:c.*473del, XM_011519886.2:c.*180del, XM_011519886.1:c.*180del, NM_001300721.2:c.*180del, NM_001300721.1:c.*180del, XM_011519889.2:c.*180del, XM_011519889.1:c.*180del, XM_011519888.2:c.*101del, XM_011519888.1:c.*101del, XM_006718140.2:c.*180del, XM_006718140.1:c.*180del, NM_001300722.2:c.*180del, NM_001300722.1:c.*180del, XM_011519890.2:c.*101del, XM_011519890.1:c.*101del, XM_011519891.2:c.*101del, XM_011519891.1:c.*101del, XM_011519893.2:c.*388del, XM_011519893.1:c.*388del, XM_005252787.2:c.*180del, XM_005252787.1:c.*180del, XM_047426344.1:c.*101del, XM_047426348.1:c.*473del, XM_047426347.1:c.*388del, XM_047426345.1:c.*101del, XM_047426349.1:c.*388del, XM_047426346.1:c.*101del

                      11.

                      rs1476063588 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:45924608 (GRCh38)
                        11:45946159 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:45924607:G:A
                        Gene:
                        LARGE2 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000216/4 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        A=0.000893/4 (Estonian)
                        HGVS:
                        NC_000011.10:g.45924608G>A, NC_000011.9:g.45946159G>A, NM_152312.5:c.595G>A, NM_152312.4:c.595G>A, NM_152312.3:c.595G>A, XM_006718141.5:c.595G>A, XM_006718141.4:c.595G>A, XM_006718141.3:c.595G>A, XM_006718141.2:c.595G>A, XM_006718141.1:c.595G>A, XM_011519892.3:c.595G>A, XM_011519892.2:c.595G>A, XM_011519892.1:c.595G>A, XM_011519886.2:c.595G>A, XM_011519886.1:c.595G>A, NM_001300721.2:c.595G>A, NM_001300721.1:c.595G>A, XM_011519889.2:c.502G>A, XM_011519889.1:c.502G>A, XM_011519888.2:c.595G>A, XM_011519888.1:c.595G>A, XM_006718140.2:c.502G>A, XM_006718140.1:c.502G>A, NM_001300722.2:c.502G>A, NM_001300722.1:c.502G>A, XM_011519890.2:c.595G>A, XM_011519890.1:c.595G>A, XM_011519891.2:c.595G>A, XM_011519891.1:c.595G>A, XM_011519893.2:c.595G>A, XM_011519893.1:c.595G>A, XM_005252787.2:c.-13G>A, XM_005252787.1:c.-13G>A, XM_047426344.1:c.595G>A, XM_047426348.1:c.502G>A, XM_047426347.1:c.595G>A, XM_047426345.1:c.502G>A, XM_047426349.1:c.502G>A, XM_047426346.1:c.502G>A, NP_689525.3:p.Val199Ile, XP_006718204.1:p.Val199Ile, XP_011518194.1:p.Val199Ile, XP_011518188.1:p.Val199Ile, NP_001287650.1:p.Val199Ile, XP_011518191.1:p.Val168Ile, XP_011518190.1:p.Val199Ile, XP_006718203.1:p.Val168Ile, NP_001287651.1:p.Val168Ile, XP_011518192.1:p.Val199Ile, XP_011518193.1:p.Val199Ile, XP_011518195.1:p.Val199Ile, XP_047282300.1:p.Val199Ile, XP_047282304.1:p.Val168Ile, XP_047282303.1:p.Val199Ile, XP_047282301.1:p.Val168Ile, XP_047282305.1:p.Val168Ile, XP_047282302.1:p.Val168Ile

                        12.

                        rs1474947749 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          11:45928252 (GRCh38)
                          11:45949803 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:45928251:G:T
                          Gene:
                          LARGE2 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.45928252G>T, NC_000011.9:g.45949803G>T, NM_152312.5:c.1830G>T, NM_152312.4:c.1830G>T, NM_152312.3:c.1830G>T, XM_011519892.3:c.1830G>T, XM_011519892.2:c.1830G>T, XM_011519892.1:c.1830G>T, XM_011519886.2:c.1830G>T, XM_011519886.1:c.1830G>T, NM_001300721.2:c.1830G>T, NM_001300721.1:c.1830G>T, XM_011519889.2:c.1737G>T, XM_011519889.1:c.1737G>T, XM_011519888.2:c.1700G>T, XM_011519888.1:c.1700G>T, XM_006718140.2:c.1737G>T, XM_006718140.1:c.1737G>T, NM_001300722.2:c.1737G>T, NM_001300722.1:c.1737G>T, XM_011519890.2:c.1700G>T, XM_011519890.1:c.1700G>T, XM_005252787.2:c.1110G>T, XM_005252787.1:c.1110G>T, XM_047426344.1:c.1871G>T, XM_047426348.1:c.1737G>T, XM_047426347.1:c.1700G>T, XM_047426345.1:c.1778G>T, XM_047426349.1:c.1607G>T, XM_047426346.1:c.1607G>T, XP_011518190.1:p.Cys567Phe, XP_011518192.1:p.Cys567Phe, XP_047282300.1:p.Cys624Phe, XP_047282303.1:p.Cys567Phe, XP_047282301.1:p.Cys593Phe, XP_047282305.1:p.Cys536Phe, XP_047282302.1:p.Cys536Phe

                          13.

                          rs1471051617 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:45926809 (GRCh38)
                            11:45948360 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:45926808:C:G,NC_000011.10:45926808:C:T
                            Gene:
                            LARGE2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000011.10:g.45926809C>G, NC_000011.10:g.45926809C>T, NC_000011.9:g.45948360C>G, NC_000011.9:g.45948360C>T, NM_152312.5:c.1263C>G, NM_152312.5:c.1263C>T, NM_152312.4:c.1263C>G, NM_152312.4:c.1263C>T, NM_152312.3:c.1263C>G, NM_152312.3:c.1263C>T, XM_006718141.5:c.1263C>G, XM_006718141.5:c.1263C>T, XM_006718141.4:c.1263C>G, XM_006718141.4:c.1263C>T, XM_006718141.3:c.1263C>G, XM_006718141.3:c.1263C>T, XM_006718141.2:c.1263C>G, XM_006718141.2:c.1263C>T, XM_006718141.1:c.1263C>G, XM_006718141.1:c.1263C>T, XM_011519892.3:c.1263C>G, XM_011519892.3:c.1263C>T, XM_011519892.2:c.1263C>G, XM_011519892.2:c.1263C>T, XM_011519892.1:c.1263C>G, XM_011519892.1:c.1263C>T, XM_011519886.2:c.1263C>G, XM_011519886.2:c.1263C>T, XM_011519886.1:c.1263C>G, XM_011519886.1:c.1263C>T, NM_001300721.2:c.1263C>G, NM_001300721.2:c.1263C>T, NM_001300721.1:c.1263C>G, NM_001300721.1:c.1263C>T, XM_011519889.2:c.1170C>G, XM_011519889.2:c.1170C>T, XM_011519889.1:c.1170C>G, XM_011519889.1:c.1170C>T, XM_011519888.2:c.1263C>G, XM_011519888.2:c.1263C>T, XM_011519888.1:c.1263C>G, XM_011519888.1:c.1263C>T, XM_006718140.2:c.1170C>G, XM_006718140.2:c.1170C>T, XM_006718140.1:c.1170C>G, XM_006718140.1:c.1170C>T, NM_001300722.2:c.1170C>G, NM_001300722.2:c.1170C>T, NM_001300722.1:c.1170C>G, NM_001300722.1:c.1170C>T, XM_011519890.2:c.1263C>G, XM_011519890.2:c.1263C>T, XM_011519890.1:c.1263C>G, XM_011519890.1:c.1263C>T, XM_011519891.2:c.1263C>G, XM_011519891.2:c.1263C>T, XM_011519891.1:c.1263C>G, XM_011519891.1:c.1263C>T, XM_011519893.2:c.1263C>G, XM_011519893.2:c.1263C>T, XM_011519893.1:c.1263C>G, XM_011519893.1:c.1263C>T, XM_005252787.2:c.543C>G, XM_005252787.2:c.543C>T, XM_005252787.1:c.543C>G, XM_005252787.1:c.543C>T, XM_047426344.1:c.1263C>G, XM_047426344.1:c.1263C>T, XM_047426348.1:c.1170C>G, XM_047426348.1:c.1170C>T, XM_047426347.1:c.1263C>G, XM_047426347.1:c.1263C>T, XM_047426345.1:c.1170C>G, XM_047426345.1:c.1170C>T, XM_047426349.1:c.1170C>G, XM_047426349.1:c.1170C>T, XM_047426346.1:c.1170C>G, XM_047426346.1:c.1170C>T

                            14.

                            rs1469848399 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:45924820 (GRCh38)
                              11:45946371 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:45924819:G:T
                              Gene:
                              LARGE2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.45924820G>T, NC_000011.9:g.45946371G>T, NM_152312.5:c.700G>T, NM_152312.4:c.700G>T, NM_152312.3:c.700G>T, XM_006718141.5:c.700G>T, XM_006718141.4:c.700G>T, XM_006718141.3:c.700G>T, XM_006718141.2:c.700G>T, XM_006718141.1:c.700G>T, XM_011519892.3:c.700G>T, XM_011519892.2:c.700G>T, XM_011519892.1:c.700G>T, XM_011519886.2:c.700G>T, XM_011519886.1:c.700G>T, NM_001300721.2:c.700G>T, NM_001300721.1:c.700G>T, XM_011519889.2:c.607G>T, XM_011519889.1:c.607G>T, XM_011519888.2:c.700G>T, XM_011519888.1:c.700G>T, XM_006718140.2:c.607G>T, XM_006718140.1:c.607G>T, NM_001300722.2:c.607G>T, NM_001300722.1:c.607G>T, XM_011519890.2:c.700G>T, XM_011519890.1:c.700G>T, XM_011519891.2:c.700G>T, XM_011519891.1:c.700G>T, XM_011519893.2:c.700G>T, XM_011519893.1:c.700G>T, XM_005252787.2:c.93G>T, XM_005252787.1:c.93G>T, XM_047426344.1:c.700G>T, XM_047426348.1:c.607G>T, XM_047426347.1:c.700G>T, XM_047426345.1:c.607G>T, XM_047426349.1:c.607G>T, XM_047426346.1:c.607G>T, NP_689525.3:p.Asp234Tyr, XP_006718204.1:p.Asp234Tyr, XP_011518194.1:p.Asp234Tyr, XP_011518188.1:p.Asp234Tyr, NP_001287650.1:p.Asp234Tyr, XP_011518191.1:p.Asp203Tyr, XP_011518190.1:p.Asp234Tyr, XP_006718203.1:p.Asp203Tyr, NP_001287651.1:p.Asp203Tyr, XP_011518192.1:p.Asp234Tyr, XP_011518193.1:p.Asp234Tyr, XP_011518195.1:p.Asp234Tyr, XP_047282300.1:p.Asp234Tyr, XP_047282304.1:p.Asp203Tyr, XP_047282303.1:p.Asp234Tyr, XP_047282301.1:p.Asp203Tyr, XP_047282305.1:p.Asp203Tyr, XP_047282302.1:p.Asp203Tyr

                              15.

                              rs1468963866 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                11:45927579 (GRCh38)
                                11:45949130 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:45927578:C:G
                                Gene:
                                LARGE2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000031/1 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000011.10:g.45927579C>G, NC_000011.9:g.45949130C>G, NM_152312.5:c.1590C>G, NM_152312.4:c.1590C>G, NM_152312.3:c.1590C>G, XM_006718141.5:c.1590C>G, XM_006718141.4:c.1590C>G, XM_006718141.3:c.1590C>G, XM_006718141.2:c.1590C>G, XM_006718141.1:c.1590C>G, XM_011519892.3:c.1590C>G, XM_011519892.2:c.1590C>G, XM_011519892.1:c.1590C>G, XM_011519886.2:c.1590C>G, XM_011519886.1:c.1590C>G, NM_001300721.2:c.1590C>G, NM_001300721.1:c.1590C>G, XM_011519889.2:c.1497C>G, XM_011519889.1:c.1497C>G, XM_011519888.2:c.1460C>G, XM_011519888.1:c.1460C>G, XM_006718140.2:c.1497C>G, XM_006718140.1:c.1497C>G, NM_001300722.2:c.1497C>G, NM_001300722.1:c.1497C>G, XM_011519890.2:c.1460C>G, XM_011519890.1:c.1460C>G, XM_011519891.2:c.1590C>G, XM_011519891.1:c.1590C>G, XM_011519893.2:c.1460C>G, XM_011519893.1:c.1460C>G, XM_005252787.2:c.870C>G, XM_005252787.1:c.870C>G, XM_047426344.1:c.1460C>G, XM_047426348.1:c.1497C>G, XM_047426347.1:c.1460C>G, XM_047426345.1:c.1367C>G, XM_047426349.1:c.1367C>G, XM_047426346.1:c.1367C>G, XP_011518190.1:p.Ser487Cys, XP_011518192.1:p.Ser487Cys, XP_011518195.1:p.Ser487Cys, XP_047282300.1:p.Ser487Cys, XP_047282303.1:p.Ser487Cys, XP_047282301.1:p.Ser456Cys, XP_047282305.1:p.Ser456Cys, XP_047282302.1:p.Ser456Cys

                                16.

                                rs1468133733 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:45928844 (GRCh38)
                                  11:45950395 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:45928843:G:A
                                  Gene:
                                  PHF21A (Varview), LARGE2 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,missense_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,3_prime_UTR_variant,terminator_codon_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000016/4 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.45928844G>A, NC_000011.9:g.45950395G>A, NM_152312.5:c.2165G>A, NM_152312.4:c.2165G>A, NM_152312.3:c.2165G>A, XM_011519892.3:c.*292G>A, XM_011519886.2:c.2210G>A, XM_011519886.1:c.2210G>A, NM_001300721.2:c.2165G>A, NM_001300721.1:c.2165G>A, XM_011519889.2:c.2117G>A, XM_011519889.1:c.2117G>A, XM_011519888.2:c.2080G>A, XM_011519888.1:c.2080G>A, XM_006718140.2:c.2072G>A, XM_006718140.1:c.2072G>A, NM_001300722.2:c.2072G>A, NM_001300722.1:c.2072G>A, XM_011519890.2:c.2035G>A, XM_011519890.1:c.2035G>A, XM_011519891.2:c.1969G>A, XM_011519891.1:c.1969G>A, XM_011519893.2:c.*207G>A, XM_011519893.1:c.*207G>A, XM_005252787.2:c.1490G>A, XM_005252787.1:c.1490G>A, XM_047426344.1:c.2206G>A, XM_047426348.1:c.*292G>A, XM_047426347.1:c.*207G>A, XM_047426345.1:c.2113G>A, XM_047426349.1:c.*207G>A, XM_047426346.1:c.1942G>A, XP_011518190.1:p.Glu694Lys, XP_011518192.1:p.Glu679Lys, XP_011518193.1:p.Glu657Lys, XP_047282300.1:p.Glu736Lys, XP_047282301.1:p.Glu705Lys, XP_047282302.1:p.Glu648Lys

                                  17.

                                  rs1467309043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    11:45928665 (GRCh38)
                                    11:45950216 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:45928664:C:A,NC_000011.10:45928664:C:T
                                    Gene:
                                    LARGE2 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.45928665C>A, NC_000011.10:g.45928665C>T, NC_000011.9:g.45950216C>A, NC_000011.9:g.45950216C>T, NM_152312.5:c.1986C>A, NM_152312.5:c.1986C>T, NM_152312.4:c.1986C>A, NM_152312.4:c.1986C>T, NM_152312.3:c.1986C>A, NM_152312.3:c.1986C>T, XM_011519892.3:c.*113C>A, XM_011519892.3:c.*113C>T, XM_011519886.2:c.2031C>A, XM_011519886.2:c.2031C>T, XM_011519886.1:c.2031C>A, XM_011519886.1:c.2031C>T, NM_001300721.2:c.1986C>A, NM_001300721.2:c.1986C>T, NM_001300721.1:c.1986C>A, NM_001300721.1:c.1986C>T, XM_011519889.2:c.1938C>A, XM_011519889.2:c.1938C>T, XM_011519889.1:c.1938C>A, XM_011519889.1:c.1938C>T, XM_011519888.2:c.1901C>A, XM_011519888.2:c.1901C>T, XM_011519888.1:c.1901C>A, XM_011519888.1:c.1901C>T, XM_006718140.2:c.1893C>A, XM_006718140.2:c.1893C>T, XM_006718140.1:c.1893C>A, XM_006718140.1:c.1893C>T, NM_001300722.2:c.1893C>A, NM_001300722.2:c.1893C>T, NM_001300722.1:c.1893C>A, NM_001300722.1:c.1893C>T, XM_011519890.2:c.1856C>A, XM_011519890.2:c.1856C>T, XM_011519890.1:c.1856C>A, XM_011519890.1:c.1856C>T, XM_011519891.2:c.1790C>A, XM_011519891.2:c.1790C>T, XM_011519891.1:c.1790C>A, XM_011519891.1:c.1790C>T, XM_011519893.2:c.*28C>A, XM_011519893.2:c.*28C>T, XM_011519893.1:c.*28C>A, XM_011519893.1:c.*28C>T, XM_005252787.2:c.1311C>A, XM_005252787.2:c.1311C>T, XM_005252787.1:c.1311C>A, XM_005252787.1:c.1311C>T, XM_047426344.1:c.2027C>A, XM_047426344.1:c.2027C>T, XM_047426348.1:c.*113C>A, XM_047426348.1:c.*113C>T, XM_047426347.1:c.*28C>A, XM_047426347.1:c.*28C>T, XM_047426345.1:c.1934C>A, XM_047426345.1:c.1934C>T, XM_047426349.1:c.*28C>A, XM_047426349.1:c.*28C>T, XM_047426346.1:c.1763C>A, XM_047426346.1:c.1763C>T, XP_011518190.1:p.Pro634Gln, XP_011518190.1:p.Pro634Leu, XP_011518192.1:p.Pro619Gln, XP_011518192.1:p.Pro619Leu, XP_011518193.1:p.Pro597Gln, XP_011518193.1:p.Pro597Leu, XP_047282300.1:p.Pro676Gln, XP_047282300.1:p.Pro676Leu, XP_047282301.1:p.Pro645Gln, XP_047282301.1:p.Pro645Leu, XP_047282302.1:p.Pro588Gln, XP_047282302.1:p.Pro588Leu

                                    18.

                                    rs1466798083 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:45928064 (GRCh38)
                                      11:45949615 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:45928063:C:G
                                      Gene:
                                      LARGE2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.45928064C>G, NC_000011.9:g.45949615C>G, NM_152312.5:c.1749C>G, NM_152312.4:c.1749C>G, NM_152312.3:c.1749C>G, XM_006718141.5:c.*231C>G, XM_006718141.4:c.*231C>G, XM_011519892.3:c.1749C>G, XM_011519892.2:c.1749C>G, XM_011519892.1:c.1749C>G, XM_011519886.2:c.1749C>G, XM_011519886.1:c.1749C>G, NM_001300721.2:c.1749C>G, NM_001300721.1:c.1749C>G, XM_011519889.2:c.1656C>G, XM_011519889.1:c.1656C>G, XM_011519888.2:c.1619C>G, XM_011519888.1:c.1619C>G, XM_006718140.2:c.1656C>G, XM_006718140.1:c.1656C>G, NM_001300722.2:c.1656C>G, NM_001300722.1:c.1656C>G, XM_011519890.2:c.1619C>G, XM_011519890.1:c.1619C>G, XM_011519891.2:c.1749C>G, XM_011519891.1:c.1749C>G, XM_011519893.2:c.1619C>G, XM_011519893.1:c.1619C>G, XM_005252787.2:c.1029C>G, XM_005252787.1:c.1029C>G, XM_047426344.1:c.1790C>G, XM_047426348.1:c.1656C>G, XM_047426347.1:c.1619C>G, XM_047426345.1:c.1697C>G, XM_047426349.1:c.1526C>G, XM_047426346.1:c.1526C>G, XP_011518190.1:p.Pro540Arg, XP_011518192.1:p.Pro540Arg, XP_011518195.1:p.Pro540Arg, XP_047282300.1:p.Pro597Arg, XP_047282303.1:p.Pro540Arg, XP_047282301.1:p.Pro566Arg, XP_047282305.1:p.Pro509Arg, XP_047282302.1:p.Pro509Arg

                                      19.

                                      rs1463156824 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:45926472 (GRCh38)
                                        11:45948023 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:45926471:C:T
                                        Gene:
                                        LARGE2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.45926472C>T, NC_000011.9:g.45948023C>T, NM_152312.5:c.1039C>T, NM_152312.4:c.1039C>T, NM_152312.3:c.1039C>T, XM_006718141.5:c.1039C>T, XM_006718141.4:c.1039C>T, XM_006718141.3:c.1039C>T, XM_006718141.2:c.1039C>T, XM_006718141.1:c.1039C>T, XM_011519892.3:c.1039C>T, XM_011519892.2:c.1039C>T, XM_011519892.1:c.1039C>T, XM_011519886.2:c.1039C>T, XM_011519886.1:c.1039C>T, NM_001300721.2:c.1039C>T, NM_001300721.1:c.1039C>T, XM_011519889.2:c.946C>T, XM_011519889.1:c.946C>T, XM_011519888.2:c.1039C>T, XM_011519888.1:c.1039C>T, XM_006718140.2:c.946C>T, XM_006718140.1:c.946C>T, NM_001300722.2:c.946C>T, NM_001300722.1:c.946C>T, XM_011519890.2:c.1039C>T, XM_011519890.1:c.1039C>T, XM_011519891.2:c.1039C>T, XM_011519891.1:c.1039C>T, XM_011519893.2:c.1039C>T, XM_011519893.1:c.1039C>T, XM_005252787.2:c.319C>T, XM_005252787.1:c.319C>T, XM_047426344.1:c.1039C>T, XM_047426348.1:c.946C>T, XM_047426347.1:c.1039C>T, XM_047426345.1:c.946C>T, XM_047426349.1:c.946C>T, XM_047426346.1:c.946C>T, NP_689525.3:p.Arg347Trp, XP_006718204.1:p.Arg347Trp, XP_011518194.1:p.Arg347Trp, XP_011518188.1:p.Arg347Trp, NP_001287650.1:p.Arg347Trp, XP_011518191.1:p.Arg316Trp, XP_011518190.1:p.Arg347Trp, XP_006718203.1:p.Arg316Trp, NP_001287651.1:p.Arg316Trp, XP_011518192.1:p.Arg347Trp, XP_011518193.1:p.Arg347Trp, XP_011518195.1:p.Arg347Trp, XP_005252844.1:p.Arg107Trp, XP_047282300.1:p.Arg347Trp, XP_047282304.1:p.Arg316Trp, XP_047282303.1:p.Arg347Trp, XP_047282301.1:p.Arg316Trp, XP_047282305.1:p.Arg316Trp, XP_047282302.1:p.Arg316Trp

                                        20.

                                        rs1462892724 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:45927382 (GRCh38)
                                          11:45948933 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:45927381:G:A
                                          Gene:
                                          LARGE2 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.45927382G>A, NC_000011.9:g.45948933G>A, NM_152312.5:c.1393G>A, NM_152312.4:c.1393G>A, NM_152312.3:c.1393G>A, XM_006718141.5:c.1393G>A, XM_006718141.4:c.1393G>A, XM_006718141.3:c.1393G>A, XM_006718141.2:c.1393G>A, XM_006718141.1:c.1393G>A, XM_011519892.3:c.1393G>A, XM_011519892.2:c.1393G>A, XM_011519892.1:c.1393G>A, XM_011519886.2:c.1393G>A, XM_011519886.1:c.1393G>A, NM_001300721.2:c.1393G>A, NM_001300721.1:c.1393G>A, XM_011519889.2:c.1300G>A, XM_011519889.1:c.1300G>A, XM_006718140.2:c.1300G>A, XM_006718140.1:c.1300G>A, NM_001300722.2:c.1300G>A, NM_001300722.1:c.1300G>A, XM_011519891.2:c.1393G>A, XM_011519891.1:c.1393G>A, XM_005252787.2:c.673G>A, XM_005252787.1:c.673G>A, XM_047426348.1:c.1300G>A, NP_689525.3:p.Asp465Asn, XP_006718204.1:p.Asp465Asn, XP_011518194.1:p.Asp465Asn, XP_011518188.1:p.Asp465Asn, NP_001287650.1:p.Asp465Asn, XP_011518191.1:p.Asp434Asn, XP_006718203.1:p.Asp434Asn, NP_001287651.1:p.Asp434Asn, XP_011518193.1:p.Asp465Asn, XP_005252844.1:p.Asp225Asn, XP_047282304.1:p.Asp434Asn

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