U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1493

1.

rs1489605985 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    13:95983807 (GRCh38)
    13:96636061 (GRCh37)
    Canonical SPDI:
    NC_000013.11:95983806:T:A
    Gene:
    UGGT2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000013.11:g.95983807T>A, NC_000013.10:g.96636061T>A, NM_020121.4:c.1089A>T, NM_020121.3:c.1089A>T, XM_011521099.3:c.27A>T, XM_011521099.2:c.27A>T, XM_011521099.1:c.27A>T, XM_011521100.3:c.1089A>T, XM_011521100.2:c.1089A>T, XM_011521100.1:c.1089A>T, XM_011521094.2:c.1089A>T, XM_011521094.1:c.1089A>T, XM_011521095.2:c.1089A>T, XM_011521095.1:c.1089A>T, XM_011521096.2:c.1089A>T, XM_011521096.1:c.1089A>T, XM_017020662.2:c.1089A>T, XM_017020662.1:c.1089A>T, XM_011521097.2:c.1089A>T, XM_011521097.1:c.1089A>T, XR_931617.2:n.1178A>T, XR_931617.1:n.1214A>T, XM_047430471.1:c.1089A>T, XM_047430472.1:c.189A>T, XM_047430473.1:c.129A>T, NP_064506.3:p.Gln363His, XP_011519401.1:p.Gln9His, XP_011519402.1:p.Gln363His, XP_011519396.1:p.Gln363His, XP_011519397.1:p.Gln363His, XP_011519398.1:p.Gln363His, XP_016876151.1:p.Gln363His, XP_011519399.1:p.Gln363His, XP_047286427.1:p.Gln363His, XP_047286428.1:p.Gln63His, XP_047286429.1:p.Gln43His

    2.

    rs1489234446 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      13:95853552 (GRCh38)
      13:96505806 (GRCh37)
      Canonical SPDI:
      NC_000013.11:95853551:G:C
      Gene:
      UGGT2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000013.11:g.95853552G>C, NC_000013.10:g.96505806G>C, NM_020121.4:c.4275C>G, NM_020121.3:c.4275C>G, XM_011521099.3:c.3294C>G, XM_011521099.2:c.3294C>G, XM_011521099.1:c.3294C>G, XM_011521102.3:c.2679C>G, XM_011521102.2:c.2679C>G, XM_011521102.1:c.2679C>G, XM_011521103.3:c.2340C>G, XM_011521103.2:c.2340C>G, XM_011521103.1:c.2340C>G, XM_011521094.2:c.4356C>G, XM_011521094.1:c.4356C>G, XM_011521095.2:c.4275C>G, XM_011521095.1:c.4275C>G, XM_011521096.2:c.4224C>G, XM_011521096.1:c.4224C>G, XM_017020662.2:c.4143C>G, XM_017020662.1:c.4143C>G, XM_011521097.2:c.4356C>G, XM_011521097.1:c.4356C>G, XM_047430471.1:c.4143C>G, XM_047430472.1:c.3456C>G, XM_047430473.1:c.3396C>G, XM_047430474.1:c.3195C>G, XM_047430475.1:c.2598C>G, NP_064506.3:p.Asn1425Lys, XP_011519401.1:p.Asn1098Lys, XP_011519404.1:p.Asn893Lys, XP_011519405.1:p.Asn780Lys, XP_011519396.1:p.Asn1452Lys, XP_011519397.1:p.Asn1425Lys, XP_011519398.1:p.Asn1408Lys, XP_016876151.1:p.Asn1381Lys, XP_011519399.1:p.Asn1452Lys, XP_047286427.1:p.Asn1381Lys, XP_047286428.1:p.Asn1152Lys, XP_047286429.1:p.Asn1132Lys, XP_047286430.1:p.Asn1065Lys, XP_047286431.1:p.Asn866Lys

      3.

      rs1488685407 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        13:95856189 (GRCh38)
        13:96508443 (GRCh37)
        Canonical SPDI:
        NC_000013.11:95856188:A:C
        Gene:
        UGGT2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000013.11:g.95856189A>C, NC_000013.10:g.96508443A>C, NM_020121.4:c.3977T>G, NM_020121.3:c.3977T>G, XM_011521099.3:c.2996T>G, XM_011521099.2:c.2996T>G, XM_011521099.1:c.2996T>G, XM_011521102.3:c.2381T>G, XM_011521102.2:c.2381T>G, XM_011521102.1:c.2381T>G, XM_011521103.3:c.2042T>G, XM_011521103.2:c.2042T>G, XM_011521103.1:c.2042T>G, XM_011521094.2:c.4058T>G, XM_011521094.1:c.4058T>G, XM_011521095.2:c.3977T>G, XM_011521095.1:c.3977T>G, XM_011521096.2:c.3926T>G, XM_011521096.1:c.3926T>G, XM_017020662.2:c.3845T>G, XM_017020662.1:c.3845T>G, XM_011521097.2:c.4058T>G, XM_011521097.1:c.4058T>G, XM_047430471.1:c.3845T>G, XM_047430472.1:c.3158T>G, XM_047430473.1:c.3098T>G, XM_047430474.1:c.2897T>G, XM_047430475.1:c.2300T>G, NP_064506.3:p.Val1326Gly, XP_011519401.1:p.Val999Gly, XP_011519404.1:p.Val794Gly, XP_011519405.1:p.Val681Gly, XP_011519396.1:p.Val1353Gly, XP_011519397.1:p.Val1326Gly, XP_011519398.1:p.Val1309Gly, XP_016876151.1:p.Val1282Gly, XP_011519399.1:p.Val1353Gly, XP_047286427.1:p.Val1282Gly, XP_047286428.1:p.Val1053Gly, XP_047286429.1:p.Val1033Gly, XP_047286430.1:p.Val966Gly, XP_047286431.1:p.Val767Gly

        4.

        rs1488271526 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:95927047 (GRCh38)
          13:96579301 (GRCh37)
          Canonical SPDI:
          NC_000013.11:95927046:C:T
          Gene:
          UGGT2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.95927047C>T, NC_000013.10:g.96579301C>T, NM_020121.4:c.2181G>A, NM_020121.3:c.2181G>A, XM_011521099.3:c.1119G>A, XM_011521099.2:c.1119G>A, XM_011521099.1:c.1119G>A, XM_011521102.3:c.504G>A, XM_011521102.2:c.504G>A, XM_011521102.1:c.504G>A, XM_011521103.3:c.165G>A, XM_011521103.2:c.165G>A, XM_011521103.1:c.165G>A, XM_011521100.3:c.2181G>A, XM_011521100.2:c.2181G>A, XM_011521100.1:c.2181G>A, XM_011521094.2:c.2181G>A, XM_011521094.1:c.2181G>A, XM_011521095.2:c.2181G>A, XM_011521095.1:c.2181G>A, XM_011521096.2:c.2181G>A, XM_011521096.1:c.2181G>A, XM_017020662.2:c.2181G>A, XM_017020662.1:c.2181G>A, XM_011521097.2:c.2181G>A, XM_011521097.1:c.2181G>A, XR_931617.2:n.2270G>A, XR_931617.1:n.2306G>A, XM_047430471.1:c.2181G>A, XM_047430472.1:c.1281G>A, XM_047430473.1:c.1221G>A, XM_047430474.1:c.1020G>A, XM_047430475.1:c.504G>A, NP_064506.3:p.Met727Ile, XP_011519401.1:p.Met373Ile, XP_011519404.1:p.Met168Ile, XP_011519405.1:p.Met55Ile, XP_011519402.1:p.Met727Ile, XP_011519396.1:p.Met727Ile, XP_011519397.1:p.Met727Ile, XP_011519398.1:p.Met727Ile, XP_016876151.1:p.Met727Ile, XP_011519399.1:p.Met727Ile, XP_047286427.1:p.Met727Ile, XP_047286428.1:p.Met427Ile, XP_047286429.1:p.Met407Ile, XP_047286430.1:p.Met340Ile, XP_047286431.1:p.Met168Ile

          5.

          rs1487467755 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            13:95867400 (GRCh38)
            13:96519654 (GRCh37)
            Canonical SPDI:
            NC_000013.11:95867399:G:A,NC_000013.11:95867399:G:T
            Gene:
            UGGT2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.0003/1 (KOREAN)
            HGVS:
            NC_000013.11:g.95867400G>A, NC_000013.11:g.95867400G>T, NC_000013.10:g.96519654G>A, NC_000013.10:g.96519654G>T, NM_020121.4:c.3497C>T, NM_020121.4:c.3497C>A, NM_020121.3:c.3497C>T, NM_020121.3:c.3497C>A, XM_011521099.3:c.2516C>T, XM_011521099.3:c.2516C>A, XM_011521099.2:c.2516C>T, XM_011521099.2:c.2516C>A, XM_011521099.1:c.2516C>T, XM_011521099.1:c.2516C>A, XM_011521102.3:c.1901C>T, XM_011521102.3:c.1901C>A, XM_011521102.2:c.1901C>T, XM_011521102.2:c.1901C>A, XM_011521102.1:c.1901C>T, XM_011521102.1:c.1901C>A, XM_011521103.3:c.1562C>T, XM_011521103.3:c.1562C>A, XM_011521103.2:c.1562C>T, XM_011521103.2:c.1562C>A, XM_011521103.1:c.1562C>T, XM_011521103.1:c.1562C>A, XM_011521094.2:c.3578C>T, XM_011521094.2:c.3578C>A, XM_011521094.1:c.3578C>T, XM_011521094.1:c.3578C>A, XM_011521095.2:c.3497C>T, XM_011521095.2:c.3497C>A, XM_011521095.1:c.3497C>T, XM_011521095.1:c.3497C>A, XM_011521096.2:c.3446C>T, XM_011521096.2:c.3446C>A, XM_011521096.1:c.3446C>T, XM_011521096.1:c.3446C>A, XM_017020662.2:c.3365C>T, XM_017020662.2:c.3365C>A, XM_017020662.1:c.3365C>T, XM_017020662.1:c.3365C>A, XM_011521097.2:c.3578C>T, XM_011521097.2:c.3578C>A, XM_011521097.1:c.3578C>T, XM_011521097.1:c.3578C>A, XM_047430471.1:c.3365C>T, XM_047430471.1:c.3365C>A, XM_047430472.1:c.2678C>T, XM_047430472.1:c.2678C>A, XM_047430473.1:c.2618C>T, XM_047430473.1:c.2618C>A, XM_047430474.1:c.2417C>T, XM_047430474.1:c.2417C>A, XM_047430475.1:c.1820C>T, XM_047430475.1:c.1820C>A, NP_064506.3:p.Ala1166Val, NP_064506.3:p.Ala1166Glu, XP_011519401.1:p.Ala839Val, XP_011519401.1:p.Ala839Glu, XP_011519404.1:p.Ala634Val, XP_011519404.1:p.Ala634Glu, XP_011519405.1:p.Ala521Val, XP_011519405.1:p.Ala521Glu, XP_011519396.1:p.Ala1193Val, XP_011519396.1:p.Ala1193Glu, XP_011519397.1:p.Ala1166Val, XP_011519397.1:p.Ala1166Glu, XP_011519398.1:p.Ala1149Val, XP_011519398.1:p.Ala1149Glu, XP_016876151.1:p.Ala1122Val, XP_016876151.1:p.Ala1122Glu, XP_011519399.1:p.Ala1193Val, XP_011519399.1:p.Ala1193Glu, XP_047286427.1:p.Ala1122Val, XP_047286427.1:p.Ala1122Glu, XP_047286428.1:p.Ala893Val, XP_047286428.1:p.Ala893Glu, XP_047286429.1:p.Ala873Val, XP_047286429.1:p.Ala873Glu, XP_047286430.1:p.Ala806Val, XP_047286430.1:p.Ala806Glu, XP_047286431.1:p.Ala607Val, XP_047286431.1:p.Ala607Glu

            6.

            rs1487075861 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              13:95856216 (GRCh38)
              13:96508470 (GRCh37)
              Canonical SPDI:
              NC_000013.11:95856215:A:C
              Gene:
              UGGT2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000013.11:g.95856216A>C, NC_000013.10:g.96508470A>C, NM_020121.4:c.3950T>G, NM_020121.3:c.3950T>G, XM_011521099.3:c.2969T>G, XM_011521099.2:c.2969T>G, XM_011521099.1:c.2969T>G, XM_011521102.3:c.2354T>G, XM_011521102.2:c.2354T>G, XM_011521102.1:c.2354T>G, XM_011521103.3:c.2015T>G, XM_011521103.2:c.2015T>G, XM_011521103.1:c.2015T>G, XM_011521094.2:c.4031T>G, XM_011521094.1:c.4031T>G, XM_011521095.2:c.3950T>G, XM_011521095.1:c.3950T>G, XM_011521096.2:c.3899T>G, XM_011521096.1:c.3899T>G, XM_017020662.2:c.3818T>G, XM_017020662.1:c.3818T>G, XM_011521097.2:c.4031T>G, XM_011521097.1:c.4031T>G, XM_047430471.1:c.3818T>G, XM_047430472.1:c.3131T>G, XM_047430473.1:c.3071T>G, XM_047430474.1:c.2870T>G, XM_047430475.1:c.2273T>G, NP_064506.3:p.Phe1317Cys, XP_011519401.1:p.Phe990Cys, XP_011519404.1:p.Phe785Cys, XP_011519405.1:p.Phe672Cys, XP_011519396.1:p.Phe1344Cys, XP_011519397.1:p.Phe1317Cys, XP_011519398.1:p.Phe1300Cys, XP_016876151.1:p.Phe1273Cys, XP_011519399.1:p.Phe1344Cys, XP_047286427.1:p.Phe1273Cys, XP_047286428.1:p.Phe1044Cys, XP_047286429.1:p.Phe1024Cys, XP_047286430.1:p.Phe957Cys, XP_047286431.1:p.Phe758Cys

              7.

              rs1487061399 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:95863639 (GRCh38)
                13:96515893 (GRCh37)
                Canonical SPDI:
                NC_000013.11:95863638:A:G
                Gene:
                UGGT2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.95863639A>G, NC_000013.10:g.96515893A>G, NM_020121.4:c.3634T>C, NM_020121.3:c.3634T>C, XM_011521099.3:c.2653T>C, XM_011521099.2:c.2653T>C, XM_011521099.1:c.2653T>C, XM_011521102.3:c.2038T>C, XM_011521102.2:c.2038T>C, XM_011521102.1:c.2038T>C, XM_011521103.3:c.1699T>C, XM_011521103.2:c.1699T>C, XM_011521103.1:c.1699T>C, XM_011521094.2:c.3715T>C, XM_011521094.1:c.3715T>C, XM_011521095.2:c.3634T>C, XM_011521095.1:c.3634T>C, XM_011521096.2:c.3583T>C, XM_011521096.1:c.3583T>C, XM_017020662.2:c.3502T>C, XM_017020662.1:c.3502T>C, XM_011521097.2:c.3715T>C, XM_011521097.1:c.3715T>C, XM_047430471.1:c.3502T>C, XM_047430472.1:c.2815T>C, XM_047430473.1:c.2755T>C, XM_047430474.1:c.2554T>C, XM_047430475.1:c.1957T>C, NP_064506.3:p.Ser1212Pro, XP_011519401.1:p.Ser885Pro, XP_011519404.1:p.Ser680Pro, XP_011519405.1:p.Ser567Pro, XP_011519396.1:p.Ser1239Pro, XP_011519397.1:p.Ser1212Pro, XP_011519398.1:p.Ser1195Pro, XP_016876151.1:p.Ser1168Pro, XP_011519399.1:p.Ser1239Pro, XP_047286427.1:p.Ser1168Pro, XP_047286428.1:p.Ser939Pro, XP_047286429.1:p.Ser919Pro, XP_047286430.1:p.Ser852Pro, XP_047286431.1:p.Ser653Pro

                8.

                rs1486617812 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:95877827 (GRCh38)
                  13:96530081 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:95877826:T:C
                  Gene:
                  UGGT2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000028/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1486022440 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:95972580 (GRCh38)
                    13:96624834 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:95972579:C:T
                    Gene:
                    UGGT2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000013.11:g.95972580C>T, NC_000013.10:g.96624834C>T, NM_020121.4:c.1184G>A, NM_020121.3:c.1184G>A, XM_011521099.3:c.122G>A, XM_011521099.2:c.122G>A, XM_011521099.1:c.122G>A, XM_011521100.3:c.1184G>A, XM_011521100.2:c.1184G>A, XM_011521100.1:c.1184G>A, XM_011521094.2:c.1184G>A, XM_011521094.1:c.1184G>A, XM_011521095.2:c.1184G>A, XM_011521095.1:c.1184G>A, XM_011521096.2:c.1184G>A, XM_011521096.1:c.1184G>A, XM_017020662.2:c.1184G>A, XM_017020662.1:c.1184G>A, XM_011521097.2:c.1184G>A, XM_011521097.1:c.1184G>A, XR_931617.2:n.1273G>A, XR_931617.1:n.1309G>A, XM_047430471.1:c.1184G>A, XM_047430472.1:c.284G>A, XM_047430473.1:c.224G>A, XM_047430474.1:c.23G>A, NP_064506.3:p.Ser395Asn, XP_011519401.1:p.Ser41Asn, XP_011519402.1:p.Ser395Asn, XP_011519396.1:p.Ser395Asn, XP_011519397.1:p.Ser395Asn, XP_011519398.1:p.Ser395Asn, XP_016876151.1:p.Ser395Asn, XP_011519399.1:p.Ser395Asn, XP_047286427.1:p.Ser395Asn, XP_047286428.1:p.Ser95Asn, XP_047286429.1:p.Ser75Asn, XP_047286430.1:p.Ser8Asn

                    10.

                    rs1485837570 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      13:95854360 (GRCh38)
                      13:96506614 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:95854359:G:C
                      Gene:
                      UGGT2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000013.11:g.95854360G>C, NC_000013.10:g.96506614G>C, NM_020121.4:c.4124C>G, NM_020121.3:c.4124C>G, XM_011521099.3:c.3143C>G, XM_011521099.2:c.3143C>G, XM_011521099.1:c.3143C>G, XM_011521102.3:c.2528C>G, XM_011521102.2:c.2528C>G, XM_011521102.1:c.2528C>G, XM_011521103.3:c.2189C>G, XM_011521103.2:c.2189C>G, XM_011521103.1:c.2189C>G, XM_011521094.2:c.4205C>G, XM_011521094.1:c.4205C>G, XM_011521095.2:c.4124C>G, XM_011521095.1:c.4124C>G, XM_011521096.2:c.4073C>G, XM_011521096.1:c.4073C>G, XM_017020662.2:c.3992C>G, XM_017020662.1:c.3992C>G, XM_011521097.2:c.4205C>G, XM_011521097.1:c.4205C>G, XM_047430471.1:c.3992C>G, XM_047430472.1:c.3305C>G, XM_047430473.1:c.3245C>G, XM_047430474.1:c.3044C>G, XM_047430475.1:c.2447C>G, NP_064506.3:p.Thr1375Arg, XP_011519401.1:p.Thr1048Arg, XP_011519404.1:p.Thr843Arg, XP_011519405.1:p.Thr730Arg, XP_011519396.1:p.Thr1402Arg, XP_011519397.1:p.Thr1375Arg, XP_011519398.1:p.Thr1358Arg, XP_016876151.1:p.Thr1331Arg, XP_011519399.1:p.Thr1402Arg, XP_047286427.1:p.Thr1331Arg, XP_047286428.1:p.Thr1102Arg, XP_047286429.1:p.Thr1082Arg, XP_047286430.1:p.Thr1015Arg, XP_047286431.1:p.Thr816Arg

                      11.

                      rs1485674461 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        13:95996088 (GRCh38)
                        13:96648342 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:95996087:G:C
                        Gene:
                        UGGT2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1484956164 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          13:96023702 (GRCh38)
                          13:96675956 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:96023701:T:C,NC_000013.11:96023701:T:G
                          Gene:
                          UGGT2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000013.11:g.96023702T>C, NC_000013.11:g.96023702T>G, NC_000013.10:g.96675956T>C, NC_000013.10:g.96675956T>G, NM_020121.4:c.299A>G, NM_020121.4:c.299A>C, NM_020121.3:c.299A>G, NM_020121.3:c.299A>C, XM_011521100.3:c.299A>G, XM_011521100.3:c.299A>C, XM_011521100.2:c.299A>G, XM_011521100.2:c.299A>C, XM_011521100.1:c.299A>G, XM_011521100.1:c.299A>C, XM_011521094.2:c.299A>G, XM_011521094.2:c.299A>C, XM_011521094.1:c.299A>G, XM_011521094.1:c.299A>C, XM_011521095.2:c.299A>G, XM_011521095.2:c.299A>C, XM_011521095.1:c.299A>G, XM_011521095.1:c.299A>C, XM_011521096.2:c.299A>G, XM_011521096.2:c.299A>C, XM_011521096.1:c.299A>G, XM_011521096.1:c.299A>C, XM_017020662.2:c.299A>G, XM_017020662.2:c.299A>C, XM_017020662.1:c.299A>G, XM_017020662.1:c.299A>C, XM_011521097.2:c.299A>G, XM_011521097.2:c.299A>C, XM_011521097.1:c.299A>G, XM_011521097.1:c.299A>C, XR_931617.2:n.388A>G, XR_931617.2:n.388A>C, XR_931617.1:n.424A>G, XR_931617.1:n.424A>C, XM_047430471.1:c.299A>G, XM_047430471.1:c.299A>C, NP_064506.3:p.Asn100Ser, NP_064506.3:p.Asn100Thr, XP_011519402.1:p.Asn100Ser, XP_011519402.1:p.Asn100Thr, XP_011519396.1:p.Asn100Ser, XP_011519396.1:p.Asn100Thr, XP_011519397.1:p.Asn100Ser, XP_011519397.1:p.Asn100Thr, XP_011519398.1:p.Asn100Ser, XP_011519398.1:p.Asn100Thr, XP_016876151.1:p.Asn100Ser, XP_016876151.1:p.Asn100Thr, XP_011519399.1:p.Asn100Ser, XP_011519399.1:p.Asn100Thr, XP_047286427.1:p.Asn100Ser, XP_047286427.1:p.Asn100Thr

                          13.

                          rs1484839539 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:95884505 (GRCh38)
                            13:96536759 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:95884504:T:C
                            Gene:
                            UGGT2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000013.11:g.95884505T>C, NC_000013.10:g.96536759T>C, NM_020121.4:c.3214A>G, NM_020121.3:c.3214A>G, XM_011521099.3:c.2233A>G, XM_011521099.2:c.2233A>G, XM_011521099.1:c.2233A>G, XM_011521102.3:c.1618A>G, XM_011521102.2:c.1618A>G, XM_011521102.1:c.1618A>G, XM_011521103.3:c.1279A>G, XM_011521103.2:c.1279A>G, XM_011521103.1:c.1279A>G, XM_011521094.2:c.3295A>G, XM_011521094.1:c.3295A>G, XM_011521095.2:c.3214A>G, XM_011521095.1:c.3214A>G, XM_011521096.2:c.3163A>G, XM_011521096.1:c.3163A>G, XM_017020662.2:c.3082A>G, XM_017020662.1:c.3082A>G, XM_011521097.2:c.3295A>G, XM_011521097.1:c.3295A>G, XM_047430471.1:c.3082A>G, XM_047430472.1:c.2395A>G, XM_047430473.1:c.2335A>G, XM_047430474.1:c.2134A>G, XM_047430475.1:c.1537A>G, NP_064506.3:p.Ile1072Val, XP_011519401.1:p.Ile745Val, XP_011519404.1:p.Ile540Val, XP_011519405.1:p.Ile427Val, XP_011519396.1:p.Ile1099Val, XP_011519397.1:p.Ile1072Val, XP_011519398.1:p.Ile1055Val, XP_016876151.1:p.Ile1028Val, XP_011519399.1:p.Ile1099Val, XP_047286427.1:p.Ile1028Val, XP_047286428.1:p.Ile799Val, XP_047286429.1:p.Ile779Val, XP_047286430.1:p.Ile712Val, XP_047286431.1:p.Ile513Val

                            14.

                            rs1484399011 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:95949406 (GRCh38)
                              13:96601660 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:95949405:T:C
                              Gene:
                              UGGT2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000013.11:g.95949406T>C, NC_000013.10:g.96601660T>C, NM_020121.4:c.1384A>G, NM_020121.3:c.1384A>G, XM_011521099.3:c.322A>G, XM_011521099.2:c.322A>G, XM_011521099.1:c.322A>G, XM_011521100.3:c.1384A>G, XM_011521100.2:c.1384A>G, XM_011521100.1:c.1384A>G, XM_011521094.2:c.1384A>G, XM_011521094.1:c.1384A>G, XM_011521095.2:c.1384A>G, XM_011521095.1:c.1384A>G, XM_011521096.2:c.1384A>G, XM_011521096.1:c.1384A>G, XM_017020662.2:c.1384A>G, XM_017020662.1:c.1384A>G, XM_011521097.2:c.1384A>G, XM_011521097.1:c.1384A>G, XR_931617.2:n.1473A>G, XR_931617.1:n.1509A>G, XM_047430471.1:c.1384A>G, XM_047430472.1:c.484A>G, XM_047430473.1:c.424A>G, XM_047430474.1:c.223A>G, NP_064506.3:p.Ser462Gly, XP_011519401.1:p.Ser108Gly, XP_011519402.1:p.Ser462Gly, XP_011519396.1:p.Ser462Gly, XP_011519397.1:p.Ser462Gly, XP_011519398.1:p.Ser462Gly, XP_016876151.1:p.Ser462Gly, XP_011519399.1:p.Ser462Gly, XP_047286427.1:p.Ser462Gly, XP_047286428.1:p.Ser162Gly, XP_047286429.1:p.Ser142Gly, XP_047286430.1:p.Ser75Gly

                              15.

                              rs1484249170 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TTCT>- [Show Flanks]
                                Chromosome:
                                13:95970238 (GRCh38)
                                13:96622492 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:95970237:TTCT:
                                Gene:
                                UGGT2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000013.11:g.95970238_95970241del, NC_000013.10:g.96622492_96622495del, NM_020121.4:c.1206_1209del, NM_020121.3:c.1206_1209del, XM_011521099.3:c.144_147del, XM_011521099.2:c.144_147del, XM_011521099.1:c.144_147del, XM_011521100.3:c.1206_1209del, XM_011521100.2:c.1206_1209del, XM_011521100.1:c.1206_1209del, XM_011521094.2:c.1206_1209del, XM_011521094.1:c.1206_1209del, XM_011521095.2:c.1206_1209del, XM_011521095.1:c.1206_1209del, XM_011521096.2:c.1206_1209del, XM_011521096.1:c.1206_1209del, XM_017020662.2:c.1206_1209del, XM_017020662.1:c.1206_1209del, XM_011521097.2:c.1206_1209del, XM_011521097.1:c.1206_1209del, XR_931617.2:n.1295_1298del, XR_931617.1:n.1331_1334del, XM_047430471.1:c.1206_1209del, XM_047430472.1:c.306_309del, XM_047430473.1:c.246_249del, XM_047430474.1:c.45_48del, NP_064506.3:p.Gly404fs, XP_011519401.1:p.Gly50fs, XP_011519402.1:p.Gly404fs, XP_011519396.1:p.Gly404fs, XP_011519397.1:p.Gly404fs, XP_011519398.1:p.Gly404fs, XP_016876151.1:p.Gly404fs, XP_011519399.1:p.Gly404fs, XP_047286427.1:p.Gly404fs, XP_047286428.1:p.Gly104fs, XP_047286429.1:p.Gly84fs, XP_047286430.1:p.Gly17fs

                                16.

                                rs1484157801 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:95927296 (GRCh38)
                                  13:96579550 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:95927295:A:G
                                  Gene:
                                  UGGT2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,initiator_codon_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.95927296A>G, NC_000013.10:g.96579550A>G, NM_020121.4:c.2018T>C, NM_020121.3:c.2018T>C, XM_011521099.3:c.956T>C, XM_011521099.2:c.956T>C, XM_011521099.1:c.956T>C, XM_011521102.3:c.341T>C, XM_011521102.2:c.341T>C, XM_011521102.1:c.341T>C, XM_011521103.3:c.2T>C, XM_011521103.2:c.2T>C, XM_011521103.1:c.2T>C, XM_011521100.3:c.2018T>C, XM_011521100.2:c.2018T>C, XM_011521100.1:c.2018T>C, XM_011521094.2:c.2018T>C, XM_011521094.1:c.2018T>C, XM_011521095.2:c.2018T>C, XM_011521095.1:c.2018T>C, XM_011521096.2:c.2018T>C, XM_011521096.1:c.2018T>C, XM_017020662.2:c.2018T>C, XM_017020662.1:c.2018T>C, XM_011521097.2:c.2018T>C, XM_011521097.1:c.2018T>C, XR_931617.2:n.2107T>C, XR_931617.1:n.2143T>C, XM_047430471.1:c.2018T>C, XM_047430472.1:c.1118T>C, XM_047430473.1:c.1058T>C, XM_047430474.1:c.857T>C, XM_047430475.1:c.341T>C, NP_064506.3:p.Met673Thr, XP_011519401.1:p.Met319Thr, XP_011519404.1:p.Met114Thr, XP_011519405.1:p.Met1Thr, XP_011519402.1:p.Met673Thr, XP_011519396.1:p.Met673Thr, XP_011519397.1:p.Met673Thr, XP_011519398.1:p.Met673Thr, XP_016876151.1:p.Met673Thr, XP_011519399.1:p.Met673Thr, XP_047286427.1:p.Met673Thr, XP_047286428.1:p.Met373Thr, XP_047286429.1:p.Met353Thr, XP_047286430.1:p.Met286Thr, XP_047286431.1:p.Met114Thr

                                  17.

                                  rs1484063322 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TATA>- [Show Flanks]
                                    Chromosome:
                                    13:95948037 (GRCh38)
                                    13:96600291 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:95948036:TATA:
                                    Gene:
                                    UGGT2 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.95948037_95948040del, NC_000013.10:g.96600291_96600294del, NM_020121.4:c.1497_1500del, NM_020121.3:c.1497_1500del, XM_011521099.3:c.435_438del, XM_011521099.2:c.435_438del, XM_011521099.1:c.435_438del, XM_011521100.3:c.1497_1500del, XM_011521100.2:c.1497_1500del, XM_011521100.1:c.1497_1500del, XM_011521094.2:c.1497_1500del, XM_011521094.1:c.1497_1500del, XM_011521095.2:c.1497_1500del, XM_011521095.1:c.1497_1500del, XM_011521096.2:c.1497_1500del, XM_011521096.1:c.1497_1500del, XM_017020662.2:c.1497_1500del, XM_017020662.1:c.1497_1500del, XM_011521097.2:c.1497_1500del, XM_011521097.1:c.1497_1500del, XR_931617.2:n.1586_1589del, XR_931617.1:n.1622_1625del, XM_047430471.1:c.1497_1500del, XM_047430472.1:c.597_600del, XM_047430473.1:c.537_540del, XM_047430474.1:c.336_339del, NP_064506.3:p.Phe499fs, XP_011519401.1:p.Phe145fs, XP_011519402.1:p.Phe499fs, XP_011519396.1:p.Phe499fs, XP_011519397.1:p.Phe499fs, XP_011519398.1:p.Phe499fs, XP_016876151.1:p.Phe499fs, XP_011519399.1:p.Phe499fs, XP_047286427.1:p.Phe499fs, XP_047286428.1:p.Phe199fs, XP_047286429.1:p.Phe179fs, XP_047286430.1:p.Phe112fs

                                    18.

                                    rs1483213925 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      13:96053258 (GRCh38)
                                      13:96705512 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:96053257:G:A
                                      Gene:
                                      UGGT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000106/2 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1482194866 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        13:95902951 (GRCh38)
                                        13:96555205 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:95902950:T:A,NC_000013.11:95902950:T:C
                                        Gene:
                                        UGGT2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000149/2 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000013.11:g.95902951T>A, NC_000013.11:g.95902951T>C, NC_000013.10:g.96555205T>A, NC_000013.10:g.96555205T>C, NM_020121.4:c.2405A>T, NM_020121.4:c.2405A>G, NM_020121.3:c.2405A>T, NM_020121.3:c.2405A>G, XM_011521099.3:c.1343A>T, XM_011521099.3:c.1343A>G, XM_011521099.2:c.1343A>T, XM_011521099.2:c.1343A>G, XM_011521099.1:c.1343A>T, XM_011521099.1:c.1343A>G, XM_011521102.3:c.728A>T, XM_011521102.3:c.728A>G, XM_011521102.2:c.728A>T, XM_011521102.2:c.728A>G, XM_011521102.1:c.728A>T, XM_011521102.1:c.728A>G, XM_011521103.3:c.389A>T, XM_011521103.3:c.389A>G, XM_011521103.2:c.389A>T, XM_011521103.2:c.389A>G, XM_011521103.1:c.389A>T, XM_011521103.1:c.389A>G, XM_011521100.3:c.2405A>T, XM_011521100.3:c.2405A>G, XM_011521100.2:c.2405A>T, XM_011521100.2:c.2405A>G, XM_011521100.1:c.2405A>T, XM_011521100.1:c.2405A>G, XM_011521094.2:c.2405A>T, XM_011521094.2:c.2405A>G, XM_011521094.1:c.2405A>T, XM_011521094.1:c.2405A>G, XM_011521095.2:c.2405A>T, XM_011521095.2:c.2405A>G, XM_011521095.1:c.2405A>T, XM_011521095.1:c.2405A>G, XM_011521096.2:c.2405A>T, XM_011521096.2:c.2405A>G, XM_011521096.1:c.2405A>T, XM_011521096.1:c.2405A>G, XM_017020662.2:c.2405A>T, XM_017020662.2:c.2405A>G, XM_017020662.1:c.2405A>T, XM_017020662.1:c.2405A>G, XM_011521097.2:c.2405A>T, XM_011521097.2:c.2405A>G, XM_011521097.1:c.2405A>T, XM_011521097.1:c.2405A>G, XR_931617.2:n.2494A>T, XR_931617.2:n.2494A>G, XR_931617.1:n.2530A>T, XR_931617.1:n.2530A>G, XM_047430471.1:c.2405A>T, XM_047430471.1:c.2405A>G, XM_047430472.1:c.1505A>T, XM_047430472.1:c.1505A>G, XM_047430473.1:c.1445A>T, XM_047430473.1:c.1445A>G, XM_047430474.1:c.1244A>T, XM_047430474.1:c.1244A>G, XM_047430475.1:c.728A>T, XM_047430475.1:c.728A>G, NP_064506.3:p.Lys802Met, NP_064506.3:p.Lys802Arg, XP_011519401.1:p.Lys448Met, XP_011519401.1:p.Lys448Arg, XP_011519404.1:p.Lys243Met, XP_011519404.1:p.Lys243Arg, XP_011519405.1:p.Lys130Met, XP_011519405.1:p.Lys130Arg, XP_011519402.1:p.Lys802Met, XP_011519402.1:p.Lys802Arg, XP_011519396.1:p.Lys802Met, XP_011519396.1:p.Lys802Arg, XP_011519397.1:p.Lys802Met, XP_011519397.1:p.Lys802Arg, XP_011519398.1:p.Lys802Met, XP_011519398.1:p.Lys802Arg, XP_016876151.1:p.Lys802Met, XP_016876151.1:p.Lys802Arg, XP_011519399.1:p.Lys802Met, XP_011519399.1:p.Lys802Arg, XP_047286427.1:p.Lys802Met, XP_047286427.1:p.Lys802Arg, XP_047286428.1:p.Lys502Met, XP_047286428.1:p.Lys502Arg, XP_047286429.1:p.Lys482Met, XP_047286429.1:p.Lys482Arg, XP_047286430.1:p.Lys415Met, XP_047286430.1:p.Lys415Arg, XP_047286431.1:p.Lys243Met, XP_047286431.1:p.Lys243Arg

                                        20.

                                        rs1482099303 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:95937011 (GRCh38)
                                          13:96589265 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:95937010:A:G
                                          Gene:
                                          UGGT2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...