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Items: 1 to 20 of 1208

1.

rs1490475073 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    13:113024694 (GRCh38)
    13:113679008 (GRCh37)
    Canonical SPDI:
    NC_000013.11:113024693:G:A
    Gene:
    MCF2L (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000047/1 (ALFA)
    A=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000013.11:g.113024694G>A, NC_000013.10:g.113679008G>A, NM_024979.4:c.208G>A, XM_011537483.3:c.304G>A, XM_011537483.2:c.304G>A, XM_011537483.1:c.304G>A, XM_011537486.3:c.313G>A, XM_011537486.2:c.385G>A, XM_011537486.1:c.211G>A, NM_001112732.3:c.214G>A, NM_001112732.2:c.214G>A, XM_017020499.3:c.313G>A, XM_017020499.2:c.385G>A, XM_017020499.1:c.385G>A, XM_017020494.2:c.232G>A, XM_017020494.1:c.232G>A, XM_011537490.2:c.127G>A, XM_011537490.1:c.127G>A, NM_001366644.2:c.127G>A, NM_001366644.1:c.127G>A, XM_011537484.2:c.226G>A, XM_011537484.1:c.226G>A, XM_011537487.2:c.208G>A, XM_011537487.1:c.208G>A, XM_011537482.2:c.304G>A, XM_011537482.1:c.304G>A, XM_011537485.2:c.214G>A, XM_011537485.1:c.214G>A, NM_001320816.2:c.226G>A, NM_001320816.1:c.226G>A, NM_001320815.2:c.208G>A, NM_001320815.1:c.208G>A, XM_017020493.2:c.313G>A, XM_017020493.1:c.385G>A, XM_011537488.2:c.160G>A, XM_011537488.1:c.160G>A, XM_017020495.2:c.313G>A, XM_017020495.1:c.385G>A, NM_001320817.2:c.208G>A, NM_001320817.1:c.208G>A, XM_047430225.1:c.148G>A, XM_047430224.1:c.232G>A, XM_047430220.1:c.304G>A, XM_047430222.1:c.304G>A, XM_047430223.1:c.214G>A, XM_047430221.1:c.304G>A, XM_047430226.1:c.304G>A, NP_079255.4:p.Ala70Thr, XP_011535785.1:p.Ala102Thr, XP_011535788.3:p.Ala105Thr, NP_001106203.2:p.Ala72Thr, XP_016875988.2:p.Ala105Thr, XP_016875983.1:p.Ala78Thr, XP_011535792.1:p.Ala43Thr, NP_001353573.1:p.Ala43Thr, XP_011535786.1:p.Ala76Thr, XP_011535789.1:p.Ala70Thr, XP_011535784.1:p.Ala102Thr, XP_011535787.1:p.Ala72Thr, NP_001307745.1:p.Ala76Thr, NP_001307744.1:p.Ala70Thr, XP_016875982.2:p.Ala105Thr, XP_011535790.1:p.Ala54Thr, XP_016875984.2:p.Ala105Thr, NP_001307746.1:p.Ala70Thr, XP_047286181.1:p.Ala50Thr, XP_047286180.1:p.Ala78Thr, XP_047286176.1:p.Ala102Thr, XP_047286178.1:p.Ala102Thr, XP_047286179.1:p.Ala72Thr, XP_047286177.1:p.Ala102Thr, XP_047286182.1:p.Ala102Thr

    2.

    rs1488291934 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      13:113096648 (GRCh38)
      13:113750962 (GRCh37)
      Canonical SPDI:
      NC_000013.11:113096647:G:A
      Gene:
      MCF2L (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000013.11:g.113096648G>A, NC_000013.10:g.113750962G>A, NM_024979.4:c.3281G>A, XM_011537483.3:c.3545G>A, XM_011537483.2:c.3545G>A, XM_011537483.1:c.3545G>A, XM_011537486.3:c.3554G>A, XM_011537486.2:c.3626G>A, XM_011537486.1:c.3452G>A, NM_001112732.3:c.3287G>A, NM_001112732.2:c.3287G>A, XM_017020494.2:c.3473G>A, XM_017020494.1:c.3473G>A, XM_011537490.2:c.3368G>A, XM_011537490.1:c.3368G>A, NM_001366644.2:c.3200G>A, NM_001366644.1:c.3200G>A, XM_011537484.2:c.3467G>A, XM_011537484.1:c.3467G>A, XM_011537487.2:c.3449G>A, XM_011537487.1:c.3449G>A, XM_011537482.2:c.3545G>A, XM_011537482.1:c.3545G>A, XM_011537485.2:c.3455G>A, XM_011537485.1:c.3455G>A, NM_001320816.2:c.3299G>A, NM_001320816.1:c.3299G>A, NM_001320815.2:c.3356G>A, NM_001320815.1:c.3356G>A, XM_017020493.2:c.3461G>A, XM_017020493.1:c.3533G>A, XM_011537488.2:c.3401G>A, XM_011537488.1:c.3401G>A, XM_017020495.2:c.3386G>A, XM_017020495.1:c.3458G>A, XM_011537491.2:c.3341G>A, XM_011537491.1:c.3341G>A, NM_001366645.2:c.3248G>A, NM_001366645.1:c.3248G>A, NM_001366646.2:c.3173G>A, NM_001366646.1:c.3173G>A, XM_047430225.1:c.3221G>A, XM_047430224.1:c.3305G>A, XM_047430220.1:c.3452G>A, XM_047430222.1:c.3377G>A, XM_047430223.1:c.3362G>A, XM_047430221.1:c.3377G>A, NP_079255.4:p.Ser1094Asn, XP_011535785.1:p.Ser1182Asn, XP_011535788.3:p.Ser1185Asn, NP_001106203.2:p.Ser1096Asn, XP_016875983.1:p.Ser1158Asn, XP_011535792.1:p.Ser1123Asn, NP_001353573.1:p.Ser1067Asn, XP_011535786.1:p.Ser1156Asn, XP_011535789.1:p.Ser1150Asn, XP_011535784.1:p.Ser1182Asn, XP_011535787.1:p.Ser1152Asn, NP_001307745.1:p.Ser1100Asn, NP_001307744.1:p.Ser1119Asn, XP_016875982.2:p.Ser1154Asn, XP_011535790.1:p.Ser1134Asn, XP_016875984.2:p.Ser1129Asn, XP_011535793.1:p.Ser1114Asn, NP_001353574.1:p.Ser1083Asn, NP_001353575.1:p.Ser1058Asn, XP_047286181.1:p.Ser1074Asn, XP_047286180.1:p.Ser1102Asn, XP_047286176.1:p.Ser1151Asn, XP_047286178.1:p.Ser1126Asn, XP_047286179.1:p.Ser1121Asn, XP_047286177.1:p.Ser1126Asn

      3.

      rs1488044681 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        13:113064393 (GRCh38)
        13:113718707 (GRCh37)
        Canonical SPDI:
        NC_000013.11:113064392:C:A
        Gene:
        MCF2L (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000111/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000013.11:g.113064393C>A, NC_000013.10:g.113718707C>A, NM_024979.4:c.573C>A, XM_011537483.3:c.669C>A, XM_011537483.2:c.669C>A, XM_011537483.1:c.669C>A, XM_011537486.3:c.678C>A, XM_011537486.2:c.750C>A, XM_011537486.1:c.576C>A, NM_001112732.3:c.579C>A, NM_001112732.2:c.579C>A, XM_017020499.3:c.678C>A, XM_017020499.2:c.750C>A, XM_017020499.1:c.750C>A, XM_017020494.2:c.597C>A, XM_017020494.1:c.597C>A, XM_011537490.2:c.492C>A, XM_011537490.1:c.492C>A, NM_001366644.2:c.492C>A, NM_001366644.1:c.492C>A, XM_011537484.2:c.591C>A, XM_011537484.1:c.591C>A, XM_011537487.2:c.573C>A, XM_011537487.1:c.573C>A, XM_011537482.2:c.669C>A, XM_011537482.1:c.669C>A, XM_011537485.2:c.579C>A, XM_011537485.1:c.579C>A, NM_001320816.2:c.591C>A, NM_001320816.1:c.591C>A, NM_001320815.2:c.573C>A, NM_001320815.1:c.573C>A, XM_017020493.2:c.678C>A, XM_017020493.1:c.750C>A, XM_011537488.2:c.525C>A, XM_011537488.1:c.525C>A, XM_017020495.2:c.678C>A, XM_017020495.1:c.750C>A, XM_011537491.2:c.465C>A, XM_011537491.1:c.465C>A, NM_001366645.2:c.465C>A, NM_001366645.1:c.465C>A, NM_001366646.2:c.465C>A, NM_001366646.1:c.465C>A, NM_001320817.2:c.573C>A, NM_001320817.1:c.573C>A, XM_047430225.1:c.513C>A, XM_047430224.1:c.597C>A, XM_047430220.1:c.669C>A, XM_047430222.1:c.669C>A, XM_047430223.1:c.579C>A, XM_047430221.1:c.669C>A, XM_047430226.1:c.669C>A, NP_079255.4:p.Cys191Ter, XP_011535785.1:p.Cys223Ter, XP_011535788.3:p.Cys226Ter, NP_001106203.2:p.Cys193Ter, XP_016875988.2:p.Cys226Ter, XP_016875983.1:p.Cys199Ter, XP_011535792.1:p.Cys164Ter, NP_001353573.1:p.Cys164Ter, XP_011535786.1:p.Cys197Ter, XP_011535789.1:p.Cys191Ter, XP_011535784.1:p.Cys223Ter, XP_011535787.1:p.Cys193Ter, NP_001307745.1:p.Cys197Ter, NP_001307744.1:p.Cys191Ter, XP_016875982.2:p.Cys226Ter, XP_011535790.1:p.Cys175Ter, XP_016875984.2:p.Cys226Ter, XP_011535793.1:p.Cys155Ter, NP_001353574.1:p.Cys155Ter, NP_001353575.1:p.Cys155Ter, NP_001307746.1:p.Cys191Ter, XP_047286181.1:p.Cys171Ter, XP_047286180.1:p.Cys199Ter, XP_047286176.1:p.Cys223Ter, XP_047286178.1:p.Cys223Ter, XP_047286179.1:p.Cys193Ter, XP_047286177.1:p.Cys223Ter, XP_047286182.1:p.Cys223Ter

        4.

        rs1487236173 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:113060656 (GRCh38)
          13:113714970 (GRCh37)
          Canonical SPDI:
          NC_000013.11:113060655:A:G
          Gene:
          MCF2L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000013.11:g.113060656A>G, NC_000013.10:g.113714970A>G, NM_024979.4:c.427A>G, XM_011537483.3:c.523A>G, XM_011537483.2:c.523A>G, XM_011537483.1:c.523A>G, XM_011537486.3:c.532A>G, XM_011537486.2:c.604A>G, XM_011537486.1:c.430A>G, NM_001112732.3:c.433A>G, NM_001112732.2:c.433A>G, XM_017020499.3:c.532A>G, XM_017020499.2:c.604A>G, XM_017020499.1:c.604A>G, XM_017020494.2:c.451A>G, XM_017020494.1:c.451A>G, XM_011537490.2:c.346A>G, XM_011537490.1:c.346A>G, NM_001366644.2:c.346A>G, NM_001366644.1:c.346A>G, XM_011537484.2:c.445A>G, XM_011537484.1:c.445A>G, XM_011537487.2:c.427A>G, XM_011537487.1:c.427A>G, XM_011537482.2:c.523A>G, XM_011537482.1:c.523A>G, XM_011537485.2:c.433A>G, XM_011537485.1:c.433A>G, NM_001320816.2:c.445A>G, NM_001320816.1:c.445A>G, NM_001320815.2:c.427A>G, NM_001320815.1:c.427A>G, XM_017020493.2:c.532A>G, XM_017020493.1:c.604A>G, XM_011537488.2:c.379A>G, XM_011537488.1:c.379A>G, XM_017020495.2:c.532A>G, XM_017020495.1:c.604A>G, XM_011537491.2:c.319A>G, XM_011537491.1:c.319A>G, NM_001366645.2:c.319A>G, NM_001366645.1:c.319A>G, NM_001366646.2:c.319A>G, NM_001366646.1:c.319A>G, NM_001320817.2:c.427A>G, NM_001320817.1:c.427A>G, XM_047430225.1:c.367A>G, XM_047430224.1:c.451A>G, XM_047430220.1:c.523A>G, XM_047430222.1:c.523A>G, XM_047430223.1:c.433A>G, XM_047430221.1:c.523A>G, XM_047430226.1:c.523A>G, NP_079255.4:p.Thr143Ala, XP_011535785.1:p.Thr175Ala, XP_011535788.3:p.Thr178Ala, NP_001106203.2:p.Thr145Ala, XP_016875988.2:p.Thr178Ala, XP_016875983.1:p.Thr151Ala, XP_011535792.1:p.Thr116Ala, NP_001353573.1:p.Thr116Ala, XP_011535786.1:p.Thr149Ala, XP_011535789.1:p.Thr143Ala, XP_011535784.1:p.Thr175Ala, XP_011535787.1:p.Thr145Ala, NP_001307745.1:p.Thr149Ala, NP_001307744.1:p.Thr143Ala, XP_016875982.2:p.Thr178Ala, XP_011535790.1:p.Thr127Ala, XP_016875984.2:p.Thr178Ala, XP_011535793.1:p.Thr107Ala, NP_001353574.1:p.Thr107Ala, NP_001353575.1:p.Thr107Ala, NP_001307746.1:p.Thr143Ala, XP_047286181.1:p.Thr123Ala, XP_047286180.1:p.Thr151Ala, XP_047286176.1:p.Thr175Ala, XP_047286178.1:p.Thr175Ala, XP_047286179.1:p.Thr145Ala, XP_047286177.1:p.Thr175Ala, XP_047286182.1:p.Thr175Ala

          5.

          rs1486701178 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            13:113096849 (GRCh38)
            13:113751163 (GRCh37)
            Canonical SPDI:
            NC_000013.11:113096848:T:A
            Gene:
            MCF2L (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            HGVS:
            NC_000013.11:g.113096849T>A, NC_000013.10:g.113751163T>A, NM_024979.4:c.3362T>A, XM_011537483.3:c.3626T>A, XM_011537483.2:c.3626T>A, XM_011537483.1:c.3626T>A, XM_011537486.3:c.3635T>A, XM_011537486.2:c.3707T>A, XM_011537486.1:c.3533T>A, NM_001112732.3:c.3368T>A, NM_001112732.2:c.3368T>A, XM_017020494.2:c.3554T>A, XM_017020494.1:c.3554T>A, XM_011537490.2:c.3449T>A, XM_011537490.1:c.3449T>A, NM_001366644.2:c.3281T>A, NM_001366644.1:c.3281T>A, XM_011537484.2:c.3548T>A, XM_011537484.1:c.3548T>A, XM_011537487.2:c.3530T>A, XM_011537487.1:c.3530T>A, XM_011537482.2:c.3626T>A, XM_011537482.1:c.3626T>A, XM_011537485.2:c.3536T>A, XM_011537485.1:c.3536T>A, NM_001320816.2:c.3380T>A, NM_001320816.1:c.3380T>A, NM_001320815.2:c.3437T>A, NM_001320815.1:c.3437T>A, XM_017020493.2:c.3542T>A, XM_017020493.1:c.3614T>A, XM_011537488.2:c.3482T>A, XM_011537488.1:c.3482T>A, XM_017020495.2:c.3467T>A, XM_017020495.1:c.3539T>A, XM_011537491.2:c.3422T>A, XM_011537491.1:c.3422T>A, NM_001366645.2:c.3329T>A, NM_001366645.1:c.3329T>A, NM_001366646.2:c.3254T>A, NM_001366646.1:c.3254T>A, XM_047430225.1:c.3302T>A, XM_047430224.1:c.3386T>A, XM_047430220.1:c.3533T>A, XM_047430222.1:c.3458T>A, XM_047430223.1:c.3443T>A, XM_047430221.1:c.3458T>A, NP_079255.4:p.Leu1121Gln, XP_011535785.1:p.Leu1209Gln, XP_011535788.3:p.Leu1212Gln, NP_001106203.2:p.Leu1123Gln, XP_016875983.1:p.Leu1185Gln, XP_011535792.1:p.Leu1150Gln, NP_001353573.1:p.Leu1094Gln, XP_011535786.1:p.Leu1183Gln, XP_011535789.1:p.Leu1177Gln, XP_011535784.1:p.Leu1209Gln, XP_011535787.1:p.Leu1179Gln, NP_001307745.1:p.Leu1127Gln, NP_001307744.1:p.Leu1146Gln, XP_016875982.2:p.Leu1181Gln, XP_011535790.1:p.Leu1161Gln, XP_016875984.2:p.Leu1156Gln, XP_011535793.1:p.Leu1141Gln, NP_001353574.1:p.Leu1110Gln, NP_001353575.1:p.Leu1085Gln, XP_047286181.1:p.Leu1101Gln, XP_047286180.1:p.Leu1129Gln, XP_047286176.1:p.Leu1178Gln, XP_047286178.1:p.Leu1153Gln, XP_047286179.1:p.Leu1148Gln, XP_047286177.1:p.Leu1153Gln

            6.

            rs1486176314 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              13:113065064 (GRCh38)
              13:113719378 (GRCh37)
              Canonical SPDI:
              NC_000013.11:113065063:A:C,NC_000013.11:113065063:A:G
              Gene:
              MCF2L (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000013.11:g.113065064A>C, NC_000013.11:g.113065064A>G, NC_000013.10:g.113719378A>C, NC_000013.10:g.113719378A>G, NM_024979.4:c.729A>C, NM_024979.4:c.729A>G, XM_011537483.3:c.825A>C, XM_011537483.3:c.825A>G, XM_011537483.2:c.825A>C, XM_011537483.2:c.825A>G, XM_011537483.1:c.825A>C, XM_011537483.1:c.825A>G, XM_011537486.3:c.834A>C, XM_011537486.3:c.834A>G, XM_011537486.2:c.906A>C, XM_011537486.2:c.906A>G, XM_011537486.1:c.732A>C, XM_011537486.1:c.732A>G, NM_001112732.3:c.735A>C, NM_001112732.3:c.735A>G, NM_001112732.2:c.735A>C, NM_001112732.2:c.735A>G, XM_017020499.3:c.834A>C, XM_017020499.3:c.834A>G, XM_017020499.2:c.906A>C, XM_017020499.2:c.906A>G, XM_017020499.1:c.906A>C, XM_017020499.1:c.906A>G, XM_017020494.2:c.753A>C, XM_017020494.2:c.753A>G, XM_017020494.1:c.753A>C, XM_017020494.1:c.753A>G, XM_011537490.2:c.648A>C, XM_011537490.2:c.648A>G, XM_011537490.1:c.648A>C, XM_011537490.1:c.648A>G, NM_001366644.2:c.648A>C, NM_001366644.2:c.648A>G, NM_001366644.1:c.648A>C, NM_001366644.1:c.648A>G, XM_011537484.2:c.747A>C, XM_011537484.2:c.747A>G, XM_011537484.1:c.747A>C, XM_011537484.1:c.747A>G, XM_011537487.2:c.729A>C, XM_011537487.2:c.729A>G, XM_011537487.1:c.729A>C, XM_011537487.1:c.729A>G, XM_011537482.2:c.825A>C, XM_011537482.2:c.825A>G, XM_011537482.1:c.825A>C, XM_011537482.1:c.825A>G, XM_011537485.2:c.735A>C, XM_011537485.2:c.735A>G, XM_011537485.1:c.735A>C, XM_011537485.1:c.735A>G, NM_001320816.2:c.747A>C, NM_001320816.2:c.747A>G, NM_001320816.1:c.747A>C, NM_001320816.1:c.747A>G, NM_001320815.2:c.729A>C, NM_001320815.2:c.729A>G, NM_001320815.1:c.729A>C, NM_001320815.1:c.729A>G, XM_017020493.2:c.834A>C, XM_017020493.2:c.834A>G, XM_017020493.1:c.906A>C, XM_017020493.1:c.906A>G, XM_011537488.2:c.681A>C, XM_011537488.2:c.681A>G, XM_011537488.1:c.681A>C, XM_011537488.1:c.681A>G, XM_017020495.2:c.834A>C, XM_017020495.2:c.834A>G, XM_017020495.1:c.906A>C, XM_017020495.1:c.906A>G, XM_011537491.2:c.621A>C, XM_011537491.2:c.621A>G, XM_011537491.1:c.621A>C, XM_011537491.1:c.621A>G, NM_001366645.2:c.621A>C, NM_001366645.2:c.621A>G, NM_001366645.1:c.621A>C, NM_001366645.1:c.621A>G, NM_001366646.2:c.621A>C, NM_001366646.2:c.621A>G, NM_001366646.1:c.621A>C, NM_001366646.1:c.621A>G, NM_001320817.2:c.729A>C, NM_001320817.2:c.729A>G, NM_001320817.1:c.729A>C, NM_001320817.1:c.729A>G, XM_047430225.1:c.669A>C, XM_047430225.1:c.669A>G, XM_047430224.1:c.753A>C, XM_047430224.1:c.753A>G, XM_047430220.1:c.825A>C, XM_047430220.1:c.825A>G, XM_047430222.1:c.825A>C, XM_047430222.1:c.825A>G, XM_047430223.1:c.735A>C, XM_047430223.1:c.735A>G, XM_047430221.1:c.825A>C, XM_047430221.1:c.825A>G, XM_047430226.1:c.825A>C, XM_047430226.1:c.825A>G

              7.

              rs1486047077 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                13:113084011 (GRCh38)
                13:113738325 (GRCh37)
                Canonical SPDI:
                NC_000013.11:113084010:G:A
                Gene:
                MCF2L (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000013.11:g.113084011G>A, NC_000013.10:g.113738325G>A, NM_024979.4:c.1999G>A, XM_011537483.3:c.2095G>A, XM_011537483.2:c.2095G>A, XM_011537483.1:c.2095G>A, XM_011537486.3:c.2104G>A, XM_011537486.2:c.2176G>A, XM_011537486.1:c.2002G>A, NM_001112732.3:c.2005G>A, NM_001112732.2:c.2005G>A, XM_017020499.3:c.2104G>A, XM_017020499.2:c.2176G>A, XM_017020499.1:c.2176G>A, XM_017020494.2:c.2023G>A, XM_017020494.1:c.2023G>A, XM_011537490.2:c.1918G>A, XM_011537490.1:c.1918G>A, NM_001366644.2:c.1918G>A, NM_001366644.1:c.1918G>A, XM_011537484.2:c.2017G>A, XM_011537484.1:c.2017G>A, XM_011537487.2:c.1999G>A, XM_011537487.1:c.1999G>A, XM_011537482.2:c.2095G>A, XM_011537482.1:c.2095G>A, XM_011537485.2:c.2005G>A, XM_011537485.1:c.2005G>A, NM_001320816.2:c.2017G>A, NM_001320816.1:c.2017G>A, NM_001320815.2:c.1999G>A, NM_001320815.1:c.1999G>A, XM_017020493.2:c.2104G>A, XM_017020493.1:c.2176G>A, XM_011537488.2:c.1951G>A, XM_011537488.1:c.1951G>A, XM_017020495.2:c.2104G>A, XM_017020495.1:c.2176G>A, XM_011537491.2:c.1891G>A, XM_011537491.1:c.1891G>A, NM_001366645.2:c.1891G>A, NM_001366645.1:c.1891G>A, NM_001366646.2:c.1891G>A, NM_001366646.1:c.1891G>A, NM_001320817.2:c.1999G>A, NM_001320817.1:c.1999G>A, XM_047430225.1:c.1939G>A, XM_047430224.1:c.2023G>A, XM_047430220.1:c.2095G>A, XM_047430222.1:c.2095G>A, XM_047430223.1:c.2005G>A, XM_047430221.1:c.2095G>A, XM_047430226.1:c.2095G>A, NP_079255.4:p.Glu667Lys, XP_011535785.1:p.Glu699Lys, XP_011535788.3:p.Glu702Lys, NP_001106203.2:p.Glu669Lys, XP_016875988.2:p.Glu702Lys, XP_016875983.1:p.Glu675Lys, XP_011535792.1:p.Glu640Lys, NP_001353573.1:p.Glu640Lys, XP_011535786.1:p.Glu673Lys, XP_011535789.1:p.Glu667Lys, XP_011535784.1:p.Glu699Lys, XP_011535787.1:p.Glu669Lys, NP_001307745.1:p.Glu673Lys, NP_001307744.1:p.Glu667Lys, XP_016875982.2:p.Glu702Lys, XP_011535790.1:p.Glu651Lys, XP_016875984.2:p.Glu702Lys, XP_011535793.1:p.Glu631Lys, NP_001353574.1:p.Glu631Lys, NP_001353575.1:p.Glu631Lys, NP_001307746.1:p.Glu667Lys, XP_047286181.1:p.Glu647Lys, XP_047286180.1:p.Glu675Lys, XP_047286176.1:p.Glu699Lys, XP_047286178.1:p.Glu699Lys, XP_047286179.1:p.Glu669Lys, XP_047286177.1:p.Glu699Lys, XP_047286182.1:p.Glu699Lys

                8.

                rs1482645130 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:113086189 (GRCh38)
                  13:113740503 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:113086188:C:T
                  Gene:
                  MCF2L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  HGVS:
                  NC_000013.11:g.113086189C>T, NC_000013.10:g.113740503C>T, NM_024979.4:c.2307C>T, XM_011537483.3:c.2403C>T, XM_011537483.2:c.2403C>T, XM_011537483.1:c.2403C>T, XM_011537486.3:c.2412C>T, XM_011537486.2:c.2484C>T, XM_011537486.1:c.2310C>T, NM_001112732.3:c.2313C>T, NM_001112732.2:c.2313C>T, XM_017020499.3:c.2412C>T, XM_017020499.2:c.2484C>T, XM_017020499.1:c.2484C>T, XM_017020494.2:c.2331C>T, XM_017020494.1:c.2331C>T, XM_011537490.2:c.2226C>T, XM_011537490.1:c.2226C>T, NM_001366644.2:c.2226C>T, NM_001366644.1:c.2226C>T, XM_011537484.2:c.2325C>T, XM_011537484.1:c.2325C>T, XM_011537487.2:c.2307C>T, XM_011537487.1:c.2307C>T, XM_011537482.2:c.2403C>T, XM_011537482.1:c.2403C>T, XM_011537485.2:c.2313C>T, XM_011537485.1:c.2313C>T, NM_001320816.2:c.2325C>T, NM_001320816.1:c.2325C>T, NM_001320815.2:c.2307C>T, NM_001320815.1:c.2307C>T, XM_017020493.2:c.2412C>T, XM_017020493.1:c.2484C>T, XM_011537488.2:c.2259C>T, XM_011537488.1:c.2259C>T, XM_017020495.2:c.2412C>T, XM_017020495.1:c.2484C>T, XM_011537491.2:c.2199C>T, XM_011537491.1:c.2199C>T, NM_001366645.2:c.2199C>T, NM_001366645.1:c.2199C>T, NM_001366646.2:c.2199C>T, NM_001366646.1:c.2199C>T, NM_001320817.2:c.2307C>T, NM_001320817.1:c.2307C>T, XM_047430225.1:c.2247C>T, XM_047430224.1:c.2331C>T, XM_047430220.1:c.2403C>T, XM_047430222.1:c.2403C>T, XM_047430223.1:c.2313C>T, XM_047430221.1:c.2403C>T, XM_047430226.1:c.2403C>T

                  9.

                  rs1481372663 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:113088372 (GRCh38)
                    13:113742686 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:113088371:A:G
                    Gene:
                    MCF2L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.113088372A>G, NC_000013.10:g.113742686A>G, NM_024979.4:c.2728A>G, XM_011537483.3:c.2824A>G, XM_011537483.2:c.2824A>G, XM_011537483.1:c.2824A>G, XM_011537486.3:c.2833A>G, XM_011537486.2:c.2905A>G, XM_011537486.1:c.2731A>G, NM_001112732.3:c.2734A>G, NM_001112732.2:c.2734A>G, XM_017020499.3:c.2833A>G, XM_017020499.2:c.2905A>G, XM_017020499.1:c.2905A>G, XM_017020494.2:c.2752A>G, XM_017020494.1:c.2752A>G, XM_011537490.2:c.2647A>G, XM_011537490.1:c.2647A>G, NM_001366644.2:c.2647A>G, NM_001366644.1:c.2647A>G, XM_011537484.2:c.2746A>G, XM_011537484.1:c.2746A>G, XM_011537487.2:c.2728A>G, XM_011537487.1:c.2728A>G, XM_011537482.2:c.2824A>G, XM_011537482.1:c.2824A>G, XM_011537485.2:c.2734A>G, XM_011537485.1:c.2734A>G, NM_001320816.2:c.2746A>G, NM_001320816.1:c.2746A>G, NM_001320815.2:c.2728A>G, NM_001320815.1:c.2728A>G, XM_017020493.2:c.2833A>G, XM_017020493.1:c.2905A>G, XM_011537488.2:c.2680A>G, XM_011537488.1:c.2680A>G, XM_017020495.2:c.2833A>G, XM_017020495.1:c.2905A>G, XM_011537491.2:c.2620A>G, XM_011537491.1:c.2620A>G, NM_001366645.2:c.2620A>G, NM_001366645.1:c.2620A>G, NM_001366646.2:c.2620A>G, NM_001366646.1:c.2620A>G, NM_001320817.2:c.2728A>G, NM_001320817.1:c.2728A>G, XM_047430225.1:c.2668A>G, XM_047430224.1:c.2752A>G, XM_047430220.1:c.2824A>G, XM_047430222.1:c.2824A>G, XM_047430223.1:c.2734A>G, XM_047430221.1:c.2824A>G, XM_047430226.1:c.2824A>G, NP_079255.4:p.Lys910Glu, XP_011535785.1:p.Lys942Glu, XP_011535788.3:p.Lys945Glu, NP_001106203.2:p.Lys912Glu, XP_016875988.2:p.Lys945Glu, XP_016875983.1:p.Lys918Glu, XP_011535792.1:p.Lys883Glu, NP_001353573.1:p.Lys883Glu, XP_011535786.1:p.Lys916Glu, XP_011535789.1:p.Lys910Glu, XP_011535784.1:p.Lys942Glu, XP_011535787.1:p.Lys912Glu, NP_001307745.1:p.Lys916Glu, NP_001307744.1:p.Lys910Glu, XP_016875982.2:p.Lys945Glu, XP_011535790.1:p.Lys894Glu, XP_016875984.2:p.Lys945Glu, XP_011535793.1:p.Lys874Glu, NP_001353574.1:p.Lys874Glu, NP_001353575.1:p.Lys874Glu, NP_001307746.1:p.Lys910Glu, XP_047286181.1:p.Lys890Glu, XP_047286180.1:p.Lys918Glu, XP_047286176.1:p.Lys942Glu, XP_047286178.1:p.Lys942Glu, XP_047286179.1:p.Lys912Glu, XP_047286177.1:p.Lys942Glu, XP_047286182.1:p.Lys942Glu

                    10.

                    rs1480513554 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AGGACGGAAGC>- [Show Flanks]
                      Chromosome:
                      13:113024656 (GRCh38)
                      13:113678970 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:113024653:GCAGGACGGAAGC:GC
                      Gene:
                      MCF2L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GC=0.000111/1 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000013.11:g.113024656_113024666del, NC_000013.10:g.113678970_113678980del, NM_024979.4:c.170_180del, XM_011537483.3:c.266_276del, XM_011537483.2:c.266_276del, XM_011537483.1:c.266_276del, XM_011537486.3:c.275_285del, XM_011537486.2:c.347_357del, XM_011537486.1:c.173_183del, NM_001112732.3:c.176_186del, NM_001112732.2:c.176_186del, XM_017020499.3:c.275_285del, XM_017020499.2:c.347_357del, XM_017020499.1:c.347_357del, XM_017020494.2:c.194_204del, XM_017020494.1:c.194_204del, XM_011537490.2:c.89_99del, XM_011537490.1:c.89_99del, NM_001366644.2:c.89_99del, NM_001366644.1:c.89_99del, XM_011537484.2:c.188_198del, XM_011537484.1:c.188_198del, XM_011537487.2:c.170_180del, XM_011537487.1:c.170_180del, XM_011537482.2:c.266_276del, XM_011537482.1:c.266_276del, XM_011537485.2:c.176_186del, XM_011537485.1:c.176_186del, NM_001320816.2:c.188_198del, NM_001320816.1:c.188_198del, NM_001320815.2:c.170_180del, NM_001320815.1:c.170_180del, XM_017020493.2:c.275_285del, XM_017020493.1:c.347_357del, XM_011537488.2:c.122_132del, XM_011537488.1:c.122_132del, XM_017020495.2:c.275_285del, XM_017020495.1:c.347_357del, NM_001320817.2:c.170_180del, NM_001320817.1:c.170_180del, XM_047430225.1:c.110_120del, XM_047430224.1:c.194_204del, XM_047430220.1:c.266_276del, XM_047430222.1:c.266_276del, XM_047430223.1:c.176_186del, XM_047430221.1:c.266_276del, XM_047430226.1:c.266_276del, NP_079255.4:p.Gln57fs, XP_011535785.1:p.Gln89fs, XP_011535788.3:p.Gln92fs, NP_001106203.2:p.Gln59fs, XP_016875988.2:p.Gln92fs, XP_016875983.1:p.Gln65fs, XP_011535792.1:p.Gln30fs, NP_001353573.1:p.Gln30fs, XP_011535786.1:p.Gln63fs, XP_011535789.1:p.Gln57fs, XP_011535784.1:p.Gln89fs, XP_011535787.1:p.Gln59fs, NP_001307745.1:p.Gln63fs, NP_001307744.1:p.Gln57fs, XP_016875982.2:p.Gln92fs, XP_011535790.1:p.Gln41fs, XP_016875984.2:p.Gln92fs, NP_001307746.1:p.Gln57fs, XP_047286181.1:p.Gln37fs, XP_047286180.1:p.Gln65fs, XP_047286176.1:p.Gln89fs, XP_047286178.1:p.Gln89fs, XP_047286179.1:p.Gln59fs, XP_047286177.1:p.Gln89fs, XP_047286182.1:p.Gln89fs

                      11.

                      rs1480496248 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:113090130 (GRCh38)
                        13:113744444 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:113090129:C:T
                        Gene:
                        MCF2L (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,stop_gained,3_prime_UTR_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_000013.11:g.113090130C>T, NC_000013.10:g.113744444C>T, XM_011537483.3:c.3106C>T, XM_011537483.2:c.3106C>T, XM_011537483.1:c.3106C>T, XM_011537486.3:c.3115C>T, XM_011537486.2:c.3187C>T, XM_011537486.1:c.3013C>T, XM_017020499.3:c.*248C>T, XM_017020494.2:c.3034C>T, XM_017020494.1:c.3034C>T, XM_011537490.2:c.2929C>T, XM_011537490.1:c.2929C>T, XM_011537484.2:c.3028C>T, XM_011537484.1:c.3028C>T, XM_011537487.2:c.3010C>T, XM_011537487.1:c.3010C>T, XM_011537482.2:c.3106C>T, XM_011537482.1:c.3106C>T, XM_011537485.2:c.3016C>T, XM_011537485.1:c.3016C>T, XM_011537488.2:c.2962C>T, XM_011537488.1:c.2962C>T, XM_011537491.2:c.2902C>T, XM_011537491.1:c.2902C>T, NM_001320817.2:c.*248C>T, NM_001320817.1:c.*248C>T, XM_047430226.1:c.*248C>T, XP_011535785.1:p.Gln1036Ter, XP_011535788.3:p.Gln1039Ter, XP_016875983.1:p.Gln1012Ter, XP_011535792.1:p.Gln977Ter, XP_011535786.1:p.Gln1010Ter, XP_011535789.1:p.Gln1004Ter, XP_011535784.1:p.Gln1036Ter, XP_011535787.1:p.Gln1006Ter, XP_011535790.1:p.Gln988Ter, XP_011535793.1:p.Gln968Ter

                        12.

                        rs1479617086 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          13:113014786 (GRCh38)
                          13:113669100 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:113014785:G:C
                          Gene:
                          MCF2L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0./0 (GnomAD)
                          HGVS:
                          NC_000013.11:g.113014786G>C, NC_000013.10:g.113669100G>C, NM_024979.4:c.97G>C, XM_011537483.3:c.193G>C, XM_011537483.2:c.193G>C, XM_011537483.1:c.193G>C, XM_011537486.3:c.202G>C, XM_011537486.2:c.274G>C, XM_011537486.1:c.100G>C, NM_001112732.3:c.103G>C, NM_001112732.2:c.103G>C, XM_017020499.3:c.202G>C, XM_017020499.2:c.274G>C, XM_017020499.1:c.274G>C, XM_017020494.2:c.121G>C, XM_017020494.1:c.121G>C, XM_011537490.2:c.16G>C, XM_011537490.1:c.16G>C, NM_001366644.2:c.16G>C, NM_001366644.1:c.16G>C, XM_011537484.2:c.115G>C, XM_011537484.1:c.115G>C, XM_011537487.2:c.97G>C, XM_011537487.1:c.97G>C, XM_011537482.2:c.193G>C, XM_011537482.1:c.193G>C, XM_011537485.2:c.103G>C, XM_011537485.1:c.103G>C, NM_001320816.2:c.115G>C, NM_001320816.1:c.115G>C, NM_001320815.2:c.97G>C, NM_001320815.1:c.97G>C, XM_017020493.2:c.202G>C, XM_017020493.1:c.274G>C, XM_011537488.2:c.49G>C, XM_011537488.1:c.49G>C, XM_017020495.2:c.202G>C, XM_017020495.1:c.274G>C, NM_001320817.2:c.97G>C, NM_001320817.1:c.97G>C, XM_047430224.1:c.121G>C, XM_047430220.1:c.193G>C, XM_047430222.1:c.193G>C, XM_047430223.1:c.103G>C, XM_047430221.1:c.193G>C, XM_047430226.1:c.193G>C, NP_079255.4:p.Val33Leu, XP_011535785.1:p.Val65Leu, XP_011535788.3:p.Val68Leu, NP_001106203.2:p.Val35Leu, XP_016875988.2:p.Val68Leu, XP_016875983.1:p.Val41Leu, XP_011535792.1:p.Val6Leu, NP_001353573.1:p.Val6Leu, XP_011535786.1:p.Val39Leu, XP_011535789.1:p.Val33Leu, XP_011535784.1:p.Val65Leu, XP_011535787.1:p.Val35Leu, NP_001307745.1:p.Val39Leu, NP_001307744.1:p.Val33Leu, XP_016875982.2:p.Val68Leu, XP_011535790.1:p.Val17Leu, XP_016875984.2:p.Val68Leu, NP_001307746.1:p.Val33Leu, XP_047286180.1:p.Val41Leu, XP_047286176.1:p.Val65Leu, XP_047286178.1:p.Val65Leu, XP_047286179.1:p.Val35Leu, XP_047286177.1:p.Val65Leu, XP_047286182.1:p.Val65Leu

                          13.

                          rs1479206570 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            13:113065016 (GRCh38)
                            13:113719330 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:113065015:G:A,NC_000013.11:113065015:G:T
                            Gene:
                            MCF2L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000013.11:g.113065016G>A, NC_000013.11:g.113065016G>T, NC_000013.10:g.113719330G>A, NC_000013.10:g.113719330G>T, NM_024979.4:c.681G>A, NM_024979.4:c.681G>T, XM_011537483.3:c.777G>A, XM_011537483.3:c.777G>T, XM_011537483.2:c.777G>A, XM_011537483.2:c.777G>T, XM_011537483.1:c.777G>A, XM_011537483.1:c.777G>T, XM_011537486.3:c.786G>A, XM_011537486.3:c.786G>T, XM_011537486.2:c.858G>A, XM_011537486.2:c.858G>T, XM_011537486.1:c.684G>A, XM_011537486.1:c.684G>T, NM_001112732.3:c.687G>A, NM_001112732.3:c.687G>T, NM_001112732.2:c.687G>A, NM_001112732.2:c.687G>T, XM_017020499.3:c.786G>A, XM_017020499.3:c.786G>T, XM_017020499.2:c.858G>A, XM_017020499.2:c.858G>T, XM_017020499.1:c.858G>A, XM_017020499.1:c.858G>T, XM_017020494.2:c.705G>A, XM_017020494.2:c.705G>T, XM_017020494.1:c.705G>A, XM_017020494.1:c.705G>T, XM_011537490.2:c.600G>A, XM_011537490.2:c.600G>T, XM_011537490.1:c.600G>A, XM_011537490.1:c.600G>T, NM_001366644.2:c.600G>A, NM_001366644.2:c.600G>T, NM_001366644.1:c.600G>A, NM_001366644.1:c.600G>T, XM_011537484.2:c.699G>A, XM_011537484.2:c.699G>T, XM_011537484.1:c.699G>A, XM_011537484.1:c.699G>T, XM_011537487.2:c.681G>A, XM_011537487.2:c.681G>T, XM_011537487.1:c.681G>A, XM_011537487.1:c.681G>T, XM_011537482.2:c.777G>A, XM_011537482.2:c.777G>T, XM_011537482.1:c.777G>A, XM_011537482.1:c.777G>T, XM_011537485.2:c.687G>A, XM_011537485.2:c.687G>T, XM_011537485.1:c.687G>A, XM_011537485.1:c.687G>T, NM_001320816.2:c.699G>A, NM_001320816.2:c.699G>T, NM_001320816.1:c.699G>A, NM_001320816.1:c.699G>T, NM_001320815.2:c.681G>A, NM_001320815.2:c.681G>T, NM_001320815.1:c.681G>A, NM_001320815.1:c.681G>T, XM_017020493.2:c.786G>A, XM_017020493.2:c.786G>T, XM_017020493.1:c.858G>A, XM_017020493.1:c.858G>T, XM_011537488.2:c.633G>A, XM_011537488.2:c.633G>T, XM_011537488.1:c.633G>A, XM_011537488.1:c.633G>T, XM_017020495.2:c.786G>A, XM_017020495.2:c.786G>T, XM_017020495.1:c.858G>A, XM_017020495.1:c.858G>T, XM_011537491.2:c.573G>A, XM_011537491.2:c.573G>T, XM_011537491.1:c.573G>A, XM_011537491.1:c.573G>T, NM_001366645.2:c.573G>A, NM_001366645.2:c.573G>T, NM_001366645.1:c.573G>A, NM_001366645.1:c.573G>T, NM_001366646.2:c.573G>A, NM_001366646.2:c.573G>T, NM_001366646.1:c.573G>A, NM_001366646.1:c.573G>T, NM_001320817.2:c.681G>A, NM_001320817.2:c.681G>T, NM_001320817.1:c.681G>A, NM_001320817.1:c.681G>T, XM_047430225.1:c.621G>A, XM_047430225.1:c.621G>T, XM_047430224.1:c.705G>A, XM_047430224.1:c.705G>T, XM_047430220.1:c.777G>A, XM_047430220.1:c.777G>T, XM_047430222.1:c.777G>A, XM_047430222.1:c.777G>T, XM_047430223.1:c.687G>A, XM_047430223.1:c.687G>T, XM_047430221.1:c.777G>A, XM_047430221.1:c.777G>T, XM_047430226.1:c.777G>A, XM_047430226.1:c.777G>T, NP_079255.4:p.Glu227Asp, XP_011535785.1:p.Glu259Asp, XP_011535788.3:p.Glu262Asp, NP_001106203.2:p.Glu229Asp, XP_016875988.2:p.Glu262Asp, XP_016875983.1:p.Glu235Asp, XP_011535792.1:p.Glu200Asp, NP_001353573.1:p.Glu200Asp, XP_011535786.1:p.Glu233Asp, XP_011535789.1:p.Glu227Asp, XP_011535784.1:p.Glu259Asp, XP_011535787.1:p.Glu229Asp, NP_001307745.1:p.Glu233Asp, NP_001307744.1:p.Glu227Asp, XP_016875982.2:p.Glu262Asp, XP_011535790.1:p.Glu211Asp, XP_016875984.2:p.Glu262Asp, XP_011535793.1:p.Glu191Asp, NP_001353574.1:p.Glu191Asp, NP_001353575.1:p.Glu191Asp, NP_001307746.1:p.Glu227Asp, XP_047286181.1:p.Glu207Asp, XP_047286180.1:p.Glu235Asp, XP_047286176.1:p.Glu259Asp, XP_047286178.1:p.Glu259Asp, XP_047286179.1:p.Glu229Asp, XP_047286177.1:p.Glu259Asp, XP_047286182.1:p.Glu259Asp

                            14.

                            rs1479090593 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:113081221 (GRCh38)
                              13:113735535 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:113081220:T:C
                              Gene:
                              MCF2L (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000111/1 (ALFA)
                              C=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.113081221T>C, NC_000013.10:g.113735535T>C, NM_024979.4:c.1811T>C, XM_011537483.3:c.1907T>C, XM_011537483.2:c.1907T>C, XM_011537483.1:c.1907T>C, XM_011537486.3:c.1916T>C, XM_011537486.2:c.1988T>C, XM_011537486.1:c.1814T>C, NM_001112732.3:c.1817T>C, NM_001112732.2:c.1817T>C, XM_017020499.3:c.1916T>C, XM_017020499.2:c.1988T>C, XM_017020499.1:c.1988T>C, XM_017020494.2:c.1835T>C, XM_017020494.1:c.1835T>C, XM_011537490.2:c.1730T>C, XM_011537490.1:c.1730T>C, NM_001366644.2:c.1730T>C, NM_001366644.1:c.1730T>C, XM_011537484.2:c.1829T>C, XM_011537484.1:c.1829T>C, XM_011537487.2:c.1811T>C, XM_011537487.1:c.1811T>C, XM_011537482.2:c.1907T>C, XM_011537482.1:c.1907T>C, XM_011537485.2:c.1817T>C, XM_011537485.1:c.1817T>C, NM_001320816.2:c.1829T>C, NM_001320816.1:c.1829T>C, NM_001320815.2:c.1811T>C, NM_001320815.1:c.1811T>C, XM_017020493.2:c.1916T>C, XM_017020493.1:c.1988T>C, XM_011537488.2:c.1763T>C, XM_011537488.1:c.1763T>C, XM_017020495.2:c.1916T>C, XM_017020495.1:c.1988T>C, XM_011537491.2:c.1703T>C, XM_011537491.1:c.1703T>C, NM_001366645.2:c.1703T>C, NM_001366645.1:c.1703T>C, NM_001366646.2:c.1703T>C, NM_001366646.1:c.1703T>C, NM_001320817.2:c.1811T>C, NM_001320817.1:c.1811T>C, XM_047430225.1:c.1751T>C, XM_047430224.1:c.1835T>C, XM_047430220.1:c.1907T>C, XM_047430222.1:c.1907T>C, XM_047430223.1:c.1817T>C, XM_047430221.1:c.1907T>C, XM_047430226.1:c.1907T>C, NP_079255.4:p.Met604Thr, XP_011535785.1:p.Met636Thr, XP_011535788.3:p.Met639Thr, NP_001106203.2:p.Met606Thr, XP_016875988.2:p.Met639Thr, XP_016875983.1:p.Met612Thr, XP_011535792.1:p.Met577Thr, NP_001353573.1:p.Met577Thr, XP_011535786.1:p.Met610Thr, XP_011535789.1:p.Met604Thr, XP_011535784.1:p.Met636Thr, XP_011535787.1:p.Met606Thr, NP_001307745.1:p.Met610Thr, NP_001307744.1:p.Met604Thr, XP_016875982.2:p.Met639Thr, XP_011535790.1:p.Met588Thr, XP_016875984.2:p.Met639Thr, XP_011535793.1:p.Met568Thr, NP_001353574.1:p.Met568Thr, NP_001353575.1:p.Met568Thr, NP_001307746.1:p.Met604Thr, XP_047286181.1:p.Met584Thr, XP_047286180.1:p.Met612Thr, XP_047286176.1:p.Met636Thr, XP_047286178.1:p.Met636Thr, XP_047286179.1:p.Met606Thr, XP_047286177.1:p.Met636Thr, XP_047286182.1:p.Met636Thr

                              15.

                              rs1478915082 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                13:113082459 (GRCh38)
                                13:113736773 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:113082458:G:C
                                Gene:
                                MCF2L (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000013.11:g.113082459G>C, NC_000013.10:g.113736773G>C, NM_024979.4:c.1902G>C, XM_011537483.3:c.1998G>C, XM_011537483.2:c.1998G>C, XM_011537483.1:c.1998G>C, XM_011537486.3:c.2007G>C, XM_011537486.2:c.2079G>C, XM_011537486.1:c.1905G>C, NM_001112732.3:c.1908G>C, NM_001112732.2:c.1908G>C, XM_017020499.3:c.2007G>C, XM_017020499.2:c.2079G>C, XM_017020499.1:c.2079G>C, XM_017020494.2:c.1926G>C, XM_017020494.1:c.1926G>C, XM_011537490.2:c.1821G>C, XM_011537490.1:c.1821G>C, NM_001366644.2:c.1821G>C, NM_001366644.1:c.1821G>C, XM_011537484.2:c.1920G>C, XM_011537484.1:c.1920G>C, XM_011537487.2:c.1902G>C, XM_011537487.1:c.1902G>C, XM_011537482.2:c.1998G>C, XM_011537482.1:c.1998G>C, XM_011537485.2:c.1908G>C, XM_011537485.1:c.1908G>C, NM_001320816.2:c.1920G>C, NM_001320816.1:c.1920G>C, NM_001320815.2:c.1902G>C, NM_001320815.1:c.1902G>C, XM_017020493.2:c.2007G>C, XM_017020493.1:c.2079G>C, XM_011537488.2:c.1854G>C, XM_011537488.1:c.1854G>C, XM_017020495.2:c.2007G>C, XM_017020495.1:c.2079G>C, XM_011537491.2:c.1794G>C, XM_011537491.1:c.1794G>C, NM_001366645.2:c.1794G>C, NM_001366645.1:c.1794G>C, NM_001366646.2:c.1794G>C, NM_001366646.1:c.1794G>C, NM_001320817.2:c.1902G>C, NM_001320817.1:c.1902G>C, XM_047430225.1:c.1842G>C, XM_047430224.1:c.1926G>C, XM_047430220.1:c.1998G>C, XM_047430222.1:c.1998G>C, XM_047430223.1:c.1908G>C, XM_047430221.1:c.1998G>C, XM_047430226.1:c.1998G>C, NP_079255.4:p.Met634Ile, XP_011535785.1:p.Met666Ile, XP_011535788.3:p.Met669Ile, NP_001106203.2:p.Met636Ile, XP_016875988.2:p.Met669Ile, XP_016875983.1:p.Met642Ile, XP_011535792.1:p.Met607Ile, NP_001353573.1:p.Met607Ile, XP_011535786.1:p.Met640Ile, XP_011535789.1:p.Met634Ile, XP_011535784.1:p.Met666Ile, XP_011535787.1:p.Met636Ile, NP_001307745.1:p.Met640Ile, NP_001307744.1:p.Met634Ile, XP_016875982.2:p.Met669Ile, XP_011535790.1:p.Met618Ile, XP_016875984.2:p.Met669Ile, XP_011535793.1:p.Met598Ile, NP_001353574.1:p.Met598Ile, NP_001353575.1:p.Met598Ile, NP_001307746.1:p.Met634Ile, XP_047286181.1:p.Met614Ile, XP_047286180.1:p.Met642Ile, XP_047286176.1:p.Met666Ile, XP_047286178.1:p.Met666Ile, XP_047286179.1:p.Met636Ile, XP_047286177.1:p.Met666Ile, XP_047286182.1:p.Met666Ile

                                16.

                                rs1478504633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:113024700 (GRCh38)
                                  13:113679014 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:113024699:A:G
                                  Gene:
                                  MCF2L (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0./0 (GnomAD)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.113024700A>G, NC_000013.10:g.113679014A>G, NM_024979.4:c.214A>G, XM_011537483.3:c.310A>G, XM_011537483.2:c.310A>G, XM_011537483.1:c.310A>G, XM_011537486.3:c.319A>G, XM_011537486.2:c.391A>G, XM_011537486.1:c.217A>G, NM_001112732.3:c.220A>G, NM_001112732.2:c.220A>G, XM_017020499.3:c.319A>G, XM_017020499.2:c.391A>G, XM_017020499.1:c.391A>G, XM_017020494.2:c.238A>G, XM_017020494.1:c.238A>G, XM_011537490.2:c.133A>G, XM_011537490.1:c.133A>G, NM_001366644.2:c.133A>G, NM_001366644.1:c.133A>G, XM_011537484.2:c.232A>G, XM_011537484.1:c.232A>G, XM_011537487.2:c.214A>G, XM_011537487.1:c.214A>G, XM_011537482.2:c.310A>G, XM_011537482.1:c.310A>G, XM_011537485.2:c.220A>G, XM_011537485.1:c.220A>G, NM_001320816.2:c.232A>G, NM_001320816.1:c.232A>G, NM_001320815.2:c.214A>G, NM_001320815.1:c.214A>G, XM_017020493.2:c.319A>G, XM_017020493.1:c.391A>G, XM_011537488.2:c.166A>G, XM_011537488.1:c.166A>G, XM_017020495.2:c.319A>G, XM_017020495.1:c.391A>G, NM_001320817.2:c.214A>G, NM_001320817.1:c.214A>G, XM_047430225.1:c.154A>G, XM_047430224.1:c.238A>G, XM_047430220.1:c.310A>G, XM_047430222.1:c.310A>G, XM_047430223.1:c.220A>G, XM_047430221.1:c.310A>G, XM_047430226.1:c.310A>G, NP_079255.4:p.Ser72Gly, XP_011535785.1:p.Ser104Gly, XP_011535788.3:p.Ser107Gly, NP_001106203.2:p.Ser74Gly, XP_016875988.2:p.Ser107Gly, XP_016875983.1:p.Ser80Gly, XP_011535792.1:p.Ser45Gly, NP_001353573.1:p.Ser45Gly, XP_011535786.1:p.Ser78Gly, XP_011535789.1:p.Ser72Gly, XP_011535784.1:p.Ser104Gly, XP_011535787.1:p.Ser74Gly, NP_001307745.1:p.Ser78Gly, NP_001307744.1:p.Ser72Gly, XP_016875982.2:p.Ser107Gly, XP_011535790.1:p.Ser56Gly, XP_016875984.2:p.Ser107Gly, NP_001307746.1:p.Ser72Gly, XP_047286181.1:p.Ser52Gly, XP_047286180.1:p.Ser80Gly, XP_047286176.1:p.Ser104Gly, XP_047286178.1:p.Ser104Gly, XP_047286179.1:p.Ser74Gly, XP_047286177.1:p.Ser104Gly, XP_047286182.1:p.Ser104Gly

                                  17.

                                  rs1477193581 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:113075995 (GRCh38)
                                    13:113730309 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:113075994:C:T
                                    Gene:
                                    MCF2L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.0001/1 (ALFA)
                                    HGVS:
                                    NC_000013.11:g.113075995C>T, NC_000013.10:g.113730309C>T, NM_024979.4:c.1332C>T, XM_011537483.3:c.1428C>T, XM_011537483.2:c.1428C>T, XM_011537483.1:c.1428C>T, XM_011537486.3:c.1437C>T, XM_011537486.2:c.1509C>T, XM_011537486.1:c.1335C>T, NM_001112732.3:c.1338C>T, NM_001112732.2:c.1338C>T, XM_017020499.3:c.1437C>T, XM_017020499.2:c.1509C>T, XM_017020499.1:c.1509C>T, XM_017020494.2:c.1356C>T, XM_017020494.1:c.1356C>T, XM_011537490.2:c.1251C>T, XM_011537490.1:c.1251C>T, NM_001366644.2:c.1251C>T, NM_001366644.1:c.1251C>T, XM_011537484.2:c.1350C>T, XM_011537484.1:c.1350C>T, XM_011537487.2:c.1332C>T, XM_011537487.1:c.1332C>T, XM_011537482.2:c.1428C>T, XM_011537482.1:c.1428C>T, XM_011537485.2:c.1338C>T, XM_011537485.1:c.1338C>T, NM_001320816.2:c.1350C>T, NM_001320816.1:c.1350C>T, NM_001320815.2:c.1332C>T, NM_001320815.1:c.1332C>T, XM_017020493.2:c.1437C>T, XM_017020493.1:c.1509C>T, XM_011537488.2:c.1284C>T, XM_011537488.1:c.1284C>T, XM_017020495.2:c.1437C>T, XM_017020495.1:c.1509C>T, XM_011537491.2:c.1224C>T, XM_011537491.1:c.1224C>T, NM_001366645.2:c.1224C>T, NM_001366645.1:c.1224C>T, NM_001366646.2:c.1224C>T, NM_001366646.1:c.1224C>T, NM_001320817.2:c.1332C>T, NM_001320817.1:c.1332C>T, XM_047430225.1:c.1272C>T, XM_047430224.1:c.1356C>T, XM_047430220.1:c.1428C>T, XM_047430222.1:c.1428C>T, XM_047430223.1:c.1338C>T, XM_047430221.1:c.1428C>T, XM_047430226.1:c.1428C>T

                                    18.

                                    rs1477062440 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      13:113075137 (GRCh38)
                                      13:113729451 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:113075136:G:A
                                      Gene:
                                      MCF2L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.113075137G>A, NC_000013.10:g.113729451G>A, NM_024979.4:c.1250G>A, XM_011537483.3:c.1346G>A, XM_011537483.2:c.1346G>A, XM_011537483.1:c.1346G>A, XM_011537486.3:c.1355G>A, XM_011537486.2:c.1427G>A, XM_011537486.1:c.1253G>A, NM_001112732.3:c.1256G>A, NM_001112732.2:c.1256G>A, XM_017020499.3:c.1355G>A, XM_017020499.2:c.1427G>A, XM_017020499.1:c.1427G>A, XM_017020494.2:c.1274G>A, XM_017020494.1:c.1274G>A, XM_011537490.2:c.1169G>A, XM_011537490.1:c.1169G>A, NM_001366644.2:c.1169G>A, NM_001366644.1:c.1169G>A, XM_011537484.2:c.1268G>A, XM_011537484.1:c.1268G>A, XM_011537487.2:c.1250G>A, XM_011537487.1:c.1250G>A, XM_011537482.2:c.1346G>A, XM_011537482.1:c.1346G>A, XM_011537485.2:c.1256G>A, XM_011537485.1:c.1256G>A, NM_001320816.2:c.1268G>A, NM_001320816.1:c.1268G>A, NM_001320815.2:c.1250G>A, NM_001320815.1:c.1250G>A, XM_017020493.2:c.1355G>A, XM_017020493.1:c.1427G>A, XM_011537488.2:c.1202G>A, XM_011537488.1:c.1202G>A, XM_017020495.2:c.1355G>A, XM_017020495.1:c.1427G>A, XM_011537491.2:c.1142G>A, XM_011537491.1:c.1142G>A, NM_001366645.2:c.1142G>A, NM_001366645.1:c.1142G>A, NM_001366646.2:c.1142G>A, NM_001366646.1:c.1142G>A, NM_001320817.2:c.1250G>A, NM_001320817.1:c.1250G>A, XM_047430225.1:c.1190G>A, XM_047430224.1:c.1274G>A, XM_047430220.1:c.1346G>A, XM_047430222.1:c.1346G>A, XM_047430223.1:c.1256G>A, XM_047430221.1:c.1346G>A, XM_047430226.1:c.1346G>A, NP_079255.4:p.Arg417Lys, XP_011535785.1:p.Arg449Lys, XP_011535788.3:p.Arg452Lys, NP_001106203.2:p.Arg419Lys, XP_016875988.2:p.Arg452Lys, XP_016875983.1:p.Arg425Lys, XP_011535792.1:p.Arg390Lys, NP_001353573.1:p.Arg390Lys, XP_011535786.1:p.Arg423Lys, XP_011535789.1:p.Arg417Lys, XP_011535784.1:p.Arg449Lys, XP_011535787.1:p.Arg419Lys, NP_001307745.1:p.Arg423Lys, NP_001307744.1:p.Arg417Lys, XP_016875982.2:p.Arg452Lys, XP_011535790.1:p.Arg401Lys, XP_016875984.2:p.Arg452Lys, XP_011535793.1:p.Arg381Lys, NP_001353574.1:p.Arg381Lys, NP_001353575.1:p.Arg381Lys, NP_001307746.1:p.Arg417Lys, XP_047286181.1:p.Arg397Lys, XP_047286180.1:p.Arg425Lys, XP_047286176.1:p.Arg449Lys, XP_047286178.1:p.Arg449Lys, XP_047286179.1:p.Arg419Lys, XP_047286177.1:p.Arg449Lys, XP_047286182.1:p.Arg449Lys

                                      19.

                                      rs1476701408 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        13:113087260 (GRCh38)
                                        13:113741574 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:113087259:T:C
                                        Gene:
                                        MCF2L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_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_000013.11:g.113087260T>C, NC_000013.10:g.113741574T>C, NM_024979.4:c.2393T>C, XM_011537483.3:c.2489T>C, XM_011537483.2:c.2489T>C, XM_011537483.1:c.2489T>C, XM_011537486.3:c.2498T>C, XM_011537486.2:c.2570T>C, XM_011537486.1:c.2396T>C, NM_001112732.3:c.2399T>C, NM_001112732.2:c.2399T>C, XM_017020499.3:c.2498T>C, XM_017020499.2:c.2570T>C, XM_017020499.1:c.2570T>C, XM_017020494.2:c.2417T>C, XM_017020494.1:c.2417T>C, XM_011537490.2:c.2312T>C, XM_011537490.1:c.2312T>C, NM_001366644.2:c.2312T>C, NM_001366644.1:c.2312T>C, XM_011537484.2:c.2411T>C, XM_011537484.1:c.2411T>C, XM_011537487.2:c.2393T>C, XM_011537487.1:c.2393T>C, XM_011537482.2:c.2489T>C, XM_011537482.1:c.2489T>C, XM_011537485.2:c.2399T>C, XM_011537485.1:c.2399T>C, NM_001320816.2:c.2411T>C, NM_001320816.1:c.2411T>C, NM_001320815.2:c.2393T>C, NM_001320815.1:c.2393T>C, XM_017020493.2:c.2498T>C, XM_017020493.1:c.2570T>C, XM_011537488.2:c.2345T>C, XM_011537488.1:c.2345T>C, XM_017020495.2:c.2498T>C, XM_017020495.1:c.2570T>C, XM_011537491.2:c.2285T>C, XM_011537491.1:c.2285T>C, NM_001366645.2:c.2285T>C, NM_001366645.1:c.2285T>C, NM_001366646.2:c.2285T>C, NM_001366646.1:c.2285T>C, NM_001320817.2:c.2393T>C, NM_001320817.1:c.2393T>C, XM_047430225.1:c.2333T>C, XM_047430224.1:c.2417T>C, XM_047430220.1:c.2489T>C, XM_047430222.1:c.2489T>C, XM_047430223.1:c.2399T>C, XM_047430221.1:c.2489T>C, XM_047430226.1:c.2489T>C, NP_079255.4:p.Leu798Pro, XP_011535785.1:p.Leu830Pro, XP_011535788.3:p.Leu833Pro, NP_001106203.2:p.Leu800Pro, XP_016875988.2:p.Leu833Pro, XP_016875983.1:p.Leu806Pro, XP_011535792.1:p.Leu771Pro, NP_001353573.1:p.Leu771Pro, XP_011535786.1:p.Leu804Pro, XP_011535789.1:p.Leu798Pro, XP_011535784.1:p.Leu830Pro, XP_011535787.1:p.Leu800Pro, NP_001307745.1:p.Leu804Pro, NP_001307744.1:p.Leu798Pro, XP_016875982.2:p.Leu833Pro, XP_011535790.1:p.Leu782Pro, XP_016875984.2:p.Leu833Pro, XP_011535793.1:p.Leu762Pro, NP_001353574.1:p.Leu762Pro, NP_001353575.1:p.Leu762Pro, NP_001307746.1:p.Leu798Pro, XP_047286181.1:p.Leu778Pro, XP_047286180.1:p.Leu806Pro, XP_047286176.1:p.Leu830Pro, XP_047286178.1:p.Leu830Pro, XP_047286179.1:p.Leu800Pro, XP_047286177.1:p.Leu830Pro, XP_047286182.1:p.Leu830Pro

                                        20.

                                        rs1476156601 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          13:113087427 (GRCh38)
                                          13:113741741 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:113087426:C:G,NC_000013.11:113087426:C:T
                                          Gene:
                                          MCF2L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000013.11:g.113087427C>G, NC_000013.11:g.113087427C>T, NC_000013.10:g.113741741C>G, NC_000013.10:g.113741741C>T, NM_024979.4:c.2560C>G, NM_024979.4:c.2560C>T, XM_011537483.3:c.2656C>G, XM_011537483.3:c.2656C>T, XM_011537483.2:c.2656C>G, XM_011537483.2:c.2656C>T, XM_011537483.1:c.2656C>G, XM_011537483.1:c.2656C>T, XM_011537486.3:c.2665C>G, XM_011537486.3:c.2665C>T, XM_011537486.2:c.2737C>G, XM_011537486.2:c.2737C>T, XM_011537486.1:c.2563C>G, XM_011537486.1:c.2563C>T, NM_001112732.3:c.2566C>G, NM_001112732.3:c.2566C>T, NM_001112732.2:c.2566C>G, NM_001112732.2:c.2566C>T, XM_017020499.3:c.2665C>G, XM_017020499.3:c.2665C>T, XM_017020499.2:c.2737C>G, XM_017020499.2:c.2737C>T, XM_017020499.1:c.2737C>G, XM_017020499.1:c.2737C>T, XM_017020494.2:c.2584C>G, XM_017020494.2:c.2584C>T, XM_017020494.1:c.2584C>G, XM_017020494.1:c.2584C>T, XM_011537490.2:c.2479C>G, XM_011537490.2:c.2479C>T, XM_011537490.1:c.2479C>G, XM_011537490.1:c.2479C>T, NM_001366644.2:c.2479C>G, NM_001366644.2:c.2479C>T, NM_001366644.1:c.2479C>G, NM_001366644.1:c.2479C>T, XM_011537484.2:c.2578C>G, XM_011537484.2:c.2578C>T, XM_011537484.1:c.2578C>G, XM_011537484.1:c.2578C>T, XM_011537487.2:c.2560C>G, XM_011537487.2:c.2560C>T, XM_011537487.1:c.2560C>G, XM_011537487.1:c.2560C>T, XM_011537482.2:c.2656C>G, XM_011537482.2:c.2656C>T, XM_011537482.1:c.2656C>G, XM_011537482.1:c.2656C>T, XM_011537485.2:c.2566C>G, XM_011537485.2:c.2566C>T, XM_011537485.1:c.2566C>G, XM_011537485.1:c.2566C>T, NM_001320816.2:c.2578C>G, NM_001320816.2:c.2578C>T, NM_001320816.1:c.2578C>G, NM_001320816.1:c.2578C>T, NM_001320815.2:c.2560C>G, NM_001320815.2:c.2560C>T, NM_001320815.1:c.2560C>G, NM_001320815.1:c.2560C>T, XM_017020493.2:c.2665C>G, XM_017020493.2:c.2665C>T, XM_017020493.1:c.2737C>G, XM_017020493.1:c.2737C>T, XM_011537488.2:c.2512C>G, XM_011537488.2:c.2512C>T, XM_011537488.1:c.2512C>G, XM_011537488.1:c.2512C>T, XM_017020495.2:c.2665C>G, XM_017020495.2:c.2665C>T, XM_017020495.1:c.2737C>G, XM_017020495.1:c.2737C>T, XM_011537491.2:c.2452C>G, XM_011537491.2:c.2452C>T, XM_011537491.1:c.2452C>G, XM_011537491.1:c.2452C>T, NM_001366645.2:c.2452C>G, NM_001366645.2:c.2452C>T, NM_001366645.1:c.2452C>G, NM_001366645.1:c.2452C>T, NM_001366646.2:c.2452C>G, NM_001366646.2:c.2452C>T, NM_001366646.1:c.2452C>G, NM_001366646.1:c.2452C>T, NM_001320817.2:c.2560C>G, NM_001320817.2:c.2560C>T, NM_001320817.1:c.2560C>G, NM_001320817.1:c.2560C>T, XM_047430225.1:c.2500C>G, XM_047430225.1:c.2500C>T, XM_047430224.1:c.2584C>G, XM_047430224.1:c.2584C>T, XM_047430220.1:c.2656C>G, XM_047430220.1:c.2656C>T, XM_047430222.1:c.2656C>G, XM_047430222.1:c.2656C>T, XM_047430223.1:c.2566C>G, XM_047430223.1:c.2566C>T, XM_047430221.1:c.2656C>G, XM_047430221.1:c.2656C>T, XM_047430226.1:c.2656C>G, XM_047430226.1:c.2656C>T, NP_079255.4:p.Pro854Ala, NP_079255.4:p.Pro854Ser, XP_011535785.1:p.Pro886Ala, XP_011535785.1:p.Pro886Ser, XP_011535788.3:p.Pro889Ala, XP_011535788.3:p.Pro889Ser, NP_001106203.2:p.Pro856Ala, NP_001106203.2:p.Pro856Ser, XP_016875988.2:p.Pro889Ala, XP_016875988.2:p.Pro889Ser, XP_016875983.1:p.Pro862Ala, XP_016875983.1:p.Pro862Ser, XP_011535792.1:p.Pro827Ala, XP_011535792.1:p.Pro827Ser, NP_001353573.1:p.Pro827Ala, NP_001353573.1:p.Pro827Ser, XP_011535786.1:p.Pro860Ala, XP_011535786.1:p.Pro860Ser, XP_011535789.1:p.Pro854Ala, XP_011535789.1:p.Pro854Ser, XP_011535784.1:p.Pro886Ala, XP_011535784.1:p.Pro886Ser, XP_011535787.1:p.Pro856Ala, XP_011535787.1:p.Pro856Ser, NP_001307745.1:p.Pro860Ala, NP_001307745.1:p.Pro860Ser, NP_001307744.1:p.Pro854Ala, NP_001307744.1:p.Pro854Ser, XP_016875982.2:p.Pro889Ala, XP_016875982.2:p.Pro889Ser, XP_011535790.1:p.Pro838Ala, XP_011535790.1:p.Pro838Ser, XP_016875984.2:p.Pro889Ala, XP_016875984.2:p.Pro889Ser, XP_011535793.1:p.Pro818Ala, XP_011535793.1:p.Pro818Ser, NP_001353574.1:p.Pro818Ala, NP_001353574.1:p.Pro818Ser, NP_001353575.1:p.Pro818Ala, NP_001353575.1:p.Pro818Ser, NP_001307746.1:p.Pro854Ala, NP_001307746.1:p.Pro854Ser, XP_047286181.1:p.Pro834Ala, XP_047286181.1:p.Pro834Ser, XP_047286180.1:p.Pro862Ala, XP_047286180.1:p.Pro862Ser, XP_047286176.1:p.Pro886Ala, XP_047286176.1:p.Pro886Ser, XP_047286178.1:p.Pro886Ala, XP_047286178.1:p.Pro886Ser, XP_047286179.1:p.Pro856Ala, XP_047286179.1:p.Pro856Ser, XP_047286177.1:p.Pro886Ala, XP_047286177.1:p.Pro886Ser, XP_047286182.1:p.Pro886Ala, XP_047286182.1:p.Pro886Ser

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