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Items: 1 to 20 of 305

1.

rs1489962362 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    22:29232361 (GRCh38)
    22:29628350 (GRCh37)
    Canonical SPDI:
    NC_000022.11:29232360:C:A,NC_000022.11:29232360:C:T
    Gene:
    EMID1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    HGVS:
    NC_000022.11:g.29232361C>A, NC_000022.11:g.29232361C>T, NC_000022.10:g.29628350C>A, NC_000022.10:g.29628350C>T, XR_937808.4:n.976C>A, XR_937808.4:n.976C>T, XR_937808.3:n.958C>A, XR_937808.3:n.958C>T, XR_937808.2:n.916C>A, XR_937808.2:n.916C>T, XR_937808.1:n.931C>A, XR_937808.1:n.931C>T, XM_011529868.4:c.833C>A, XM_011529868.4:c.833C>T, XM_011529868.3:c.833C>A, XM_011529868.3:c.833C>T, XM_011529868.2:c.833C>A, XM_011529868.2:c.833C>T, XM_011529868.1:c.833C>A, XM_011529868.1:c.833C>T, XM_011529869.4:c.833C>A, XM_011529869.4:c.833C>T, XM_011529869.3:c.833C>A, XM_011529869.3:c.833C>T, XM_011529869.2:c.833C>A, XM_011529869.2:c.833C>T, XM_011529869.1:c.833C>A, XM_011529869.1:c.833C>T, XM_005261328.4:c.782C>A, XM_005261328.4:c.782C>T, NM_133455.4:c.782C>A, NM_133455.4:c.782C>T, NM_133455.3:c.782C>A, NM_133455.3:c.782C>T, XM_011529871.4:c.749C>A, XM_011529871.4:c.749C>T, XM_011529871.3:c.749C>A, XM_011529871.3:c.749C>T, XM_011529871.2:c.749C>A, XM_011529871.2:c.749C>T, XM_011529871.1:c.749C>A, XM_011529871.1:c.749C>T, XM_011529870.4:c.833C>A, XM_011529870.4:c.833C>T, XM_011529870.3:c.833C>A, XM_011529870.3:c.833C>T, XM_011529870.2:c.833C>A, XM_011529870.2:c.833C>T, XM_011529870.1:c.833C>A, XM_011529870.1:c.833C>T, XM_005261329.4:c.698C>A, XM_005261329.4:c.698C>T, XM_005261329.3:c.698C>A, XM_005261329.3:c.698C>T, XM_005261329.2:c.698C>A, XM_005261329.2:c.698C>T, XM_005261329.1:c.698C>A, XM_005261329.1:c.698C>T, XM_011529872.4:c.833C>A, XM_011529872.4:c.833C>T, XM_011529872.3:c.833C>A, XM_011529872.3:c.833C>T, XM_011529872.2:c.833C>A, XM_011529872.2:c.833C>T, XM_011529872.1:c.833C>A, XM_011529872.1:c.833C>T, XM_011529873.4:c.833C>A, XM_011529873.4:c.833C>T, XM_011529873.3:c.833C>A, XM_011529873.3:c.833C>T, XM_011529873.2:c.833C>A, XM_011529873.2:c.833C>T, XM_011529873.1:c.833C>A, XM_011529873.1:c.833C>T, XR_937810.4:n.976C>A, XR_937810.4:n.976C>T, XR_937810.3:n.958C>A, XR_937810.3:n.958C>T, XR_937810.2:n.917C>A, XR_937810.2:n.917C>T, XR_937810.1:n.931C>A, XR_937810.1:n.931C>T, NM_001267895.2:c.776C>A, NM_001267895.2:c.776C>T, NM_001267895.1:c.776C>A, NM_001267895.1:c.776C>T, XM_011529875.2:c.368C>A, XM_011529875.2:c.368C>T, XM_011529875.1:c.368C>A, XM_011529875.1:c.368C>T, XM_011529876.2:c.296C>A, XM_011529876.2:c.296C>T, XM_011529876.1:c.296C>A, XM_011529876.1:c.296C>T, NM_001410828.1:c.782C>A, NM_001410828.1:c.782C>T, XM_047441133.1:c.749C>A, XM_047441133.1:c.749C>T, XM_047441135.1:c.698C>A, XM_047441135.1:c.698C>T, XM_047441134.1:c.782C>A, XM_047441134.1:c.782C>T, XM_047441136.1:c.782C>A, XM_047441136.1:c.782C>T, XM_047441137.1:c.698C>A, XM_047441137.1:c.698C>T, XP_011528170.1:p.Pro278Gln, XP_011528170.1:p.Pro278Leu, XP_011528171.1:p.Pro278Gln, XP_011528171.1:p.Pro278Leu, XP_005261385.1:p.Pro261Gln, XP_005261385.1:p.Pro261Leu, NP_597712.2:p.Pro261Gln, NP_597712.2:p.Pro261Leu, XP_011528173.1:p.Pro250Gln, XP_011528173.1:p.Pro250Leu, XP_011528172.1:p.Pro278Gln, XP_011528172.1:p.Pro278Leu, XP_005261386.1:p.Pro233Gln, XP_005261386.1:p.Pro233Leu, XP_011528174.1:p.Pro278Gln, XP_011528174.1:p.Pro278Leu, XP_011528175.1:p.Pro278Gln, XP_011528175.1:p.Pro278Leu, NP_001254824.1:p.Pro259Gln, NP_001254824.1:p.Pro259Leu, XP_011528177.1:p.Pro123Gln, XP_011528177.1:p.Pro123Leu, XP_011528178.1:p.Pro99Gln, XP_011528178.1:p.Pro99Leu, XP_047297089.1:p.Pro250Gln, XP_047297089.1:p.Pro250Leu, XP_047297091.1:p.Pro233Gln, XP_047297091.1:p.Pro233Leu, XP_047297090.1:p.Pro261Gln, XP_047297090.1:p.Pro261Leu, XP_047297092.1:p.Pro261Gln, XP_047297092.1:p.Pro261Leu, XP_047297093.1:p.Pro233Gln, XP_047297093.1:p.Pro233Leu

    2.

    rs1487680918 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      22:29234314 (GRCh38)
      22:29630303 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29234313:G:T
      Gene:
      EMID1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      HGVS:
      NC_000022.11:g.29234314G>T, NC_000022.10:g.29630303G>T, XR_937808.4:n.1233G>T, XR_937808.3:n.1215G>T, XR_937808.2:n.1173G>T, XR_937808.1:n.1188G>T, XM_011529868.4:c.1090G>T, XM_011529868.3:c.1090G>T, XM_011529868.2:c.1090G>T, XM_011529868.1:c.1090G>T, XM_011529869.4:c.1090G>T, XM_011529869.3:c.1090G>T, XM_011529869.2:c.1090G>T, XM_011529869.1:c.1090G>T, XM_005261328.4:c.1039G>T, NM_133455.4:c.1039G>T, NM_133455.3:c.1039G>T, XM_011529871.4:c.1006G>T, XM_011529871.3:c.1006G>T, XM_011529871.2:c.1006G>T, XM_011529871.1:c.1006G>T, XM_011529870.4:c.1090G>T, XM_011529870.3:c.1090G>T, XM_011529870.2:c.1090G>T, XM_011529870.1:c.1090G>T, XM_005261329.4:c.955G>T, XM_005261329.3:c.955G>T, XM_005261329.2:c.955G>T, XM_005261329.1:c.955G>T, XM_011529872.4:c.1090G>T, XM_011529872.3:c.1090G>T, XM_011529872.2:c.1090G>T, XM_011529872.1:c.1090G>T, XM_011529873.4:c.1090G>T, XM_011529873.3:c.1090G>T, XM_011529873.2:c.1090G>T, XM_011529873.1:c.1090G>T, NM_001267895.2:c.1033G>T, NM_001267895.1:c.1033G>T, XM_011529875.2:c.625G>T, XM_011529875.1:c.625G>T, XM_011529876.2:c.553G>T, XM_011529876.1:c.553G>T, NM_001410828.1:c.1039G>T, XM_047441133.1:c.1006G>T, XM_047441135.1:c.955G>T, XM_047441134.1:c.1039G>T, XM_047441136.1:c.1039G>T, XM_047441137.1:c.955G>T, XP_011528170.1:p.Gly364Trp, XP_011528171.1:p.Gly364Trp, XP_005261385.1:p.Gly347Trp, NP_597712.2:p.Gly347Trp, XP_011528173.1:p.Gly336Trp, XP_011528172.1:p.Gly364Trp, XP_005261386.1:p.Gly319Trp, XP_011528174.1:p.Gly364Trp, XP_011528175.1:p.Gly364Trp, NP_001254824.1:p.Gly345Trp, XP_011528177.1:p.Gly209Trp, XP_011528178.1:p.Gly185Trp, XP_047297089.1:p.Gly336Trp, XP_047297091.1:p.Gly319Trp, XP_047297090.1:p.Gly347Trp, XP_047297092.1:p.Gly347Trp, XP_047297093.1:p.Gly319Trp

      3.

      rs1481555382 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:29243483 (GRCh38)
        22:29639472 (GRCh37)
        Canonical SPDI:
        NC_000022.11:29243482:C:T
        Gene:
        EMID1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.29243483C>T, NC_000022.10:g.29639472C>T, XR_937808.4:n.1307C>T, XR_937808.3:n.1289C>T, XR_937808.2:n.1247C>T, XR_937808.1:n.1262C>T, XM_011529868.4:c.1164C>T, XM_011529868.3:c.1164C>T, XM_011529868.2:c.1164C>T, XM_011529868.1:c.1164C>T, XM_011529869.4:c.1164C>T, XM_011529869.3:c.1164C>T, XM_011529869.2:c.1164C>T, XM_011529869.1:c.1164C>T, XM_005261328.4:c.1113C>T, NM_133455.4:c.1113C>T, NM_133455.3:c.1113C>T, XM_011529871.4:c.1080C>T, XM_011529871.3:c.1080C>T, XM_011529871.2:c.1080C>T, XM_011529871.1:c.1080C>T, XM_011529870.4:c.1164C>T, XM_011529870.3:c.1164C>T, XM_011529870.2:c.1164C>T, XM_011529870.1:c.1164C>T, XM_005261329.4:c.1029C>T, XM_005261329.3:c.1029C>T, XM_005261329.2:c.1029C>T, XM_005261329.1:c.1029C>T, XM_011529872.4:c.1164C>T, XM_011529872.3:c.1164C>T, XM_011529872.2:c.1164C>T, XM_011529872.1:c.1164C>T, XM_011529873.4:c.1164C>T, XM_011529873.3:c.1164C>T, XM_011529873.2:c.1164C>T, XM_011529873.1:c.1164C>T, NM_001267895.2:c.1107C>T, NM_001267895.1:c.1107C>T, XM_011529875.2:c.699C>T, XM_011529875.1:c.699C>T, XM_011529876.2:c.627C>T, XM_011529876.1:c.627C>T, NM_001410828.1:c.1113C>T, XM_047441133.1:c.1080C>T, XM_047441135.1:c.1029C>T, XM_047441134.1:c.1113C>T, XM_047441136.1:c.1113C>T, XM_047441137.1:c.1029C>T

        4.

        rs1481500197 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          22:29255335 (GRCh38)
          22:29651324 (GRCh37)
          Canonical SPDI:
          NC_000022.11:29255334:C:A
          Gene:
          EMID1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.29255335C>A, NC_000022.10:g.29651324C>A, XM_011529868.4:c.1235C>A, XM_011529868.3:c.1235C>A, XM_011529868.2:c.1235C>A, XM_011529868.1:c.1235C>A, XM_005261328.4:c.1184C>A, XM_011529871.4:c.1151C>A, XM_011529871.3:c.1151C>A, XM_011529871.2:c.1151C>A, XM_011529871.1:c.1151C>A, XM_005261329.4:c.1100C>A, XM_005261329.3:c.1100C>A, XM_005261329.2:c.1100C>A, XM_005261329.1:c.1100C>A, XM_011529872.4:c.1235C>A, XM_011529872.3:c.1235C>A, XM_011529872.2:c.1235C>A, XM_011529872.1:c.1235C>A, XM_011529873.4:c.*57C>A, XM_011529873.3:c.*57C>A, XM_011529873.2:c.*57C>A, XM_011529873.1:c.*57C>A, XM_011529875.2:c.770C>A, XM_011529875.1:c.770C>A, XM_011529876.2:c.698C>A, XM_011529876.1:c.698C>A, NM_001410828.1:c.1184C>A, XM_047441136.1:c.*57C>A, XM_047441137.1:c.*57C>A, XP_011528170.1:p.Thr412Asn, XP_005261385.1:p.Thr395Asn, XP_011528173.1:p.Thr384Asn, XP_005261386.1:p.Thr367Asn, XP_011528174.1:p.Thr412Asn, XP_011528177.1:p.Thr257Asn, XP_011528178.1:p.Thr233Asn

          5.

          rs1478124045 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            22:29231594 (GRCh38)
            22:29627583 (GRCh37)
            Canonical SPDI:
            NC_000022.11:29231593:C:A
            Gene:
            EMID1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000022.11:g.29231594C>A, NC_000022.10:g.29627583C>A, XR_937808.4:n.782C>A, XR_937808.3:n.764C>A, XR_937808.2:n.722C>A, XR_937808.1:n.737C>A, XM_011529868.4:c.639C>A, XM_011529868.3:c.639C>A, XM_011529868.2:c.639C>A, XM_011529868.1:c.639C>A, XM_011529869.4:c.639C>A, XM_011529869.3:c.639C>A, XM_011529869.2:c.639C>A, XM_011529869.1:c.639C>A, XM_005261328.4:c.588C>A, NM_133455.4:c.588C>A, NM_133455.3:c.588C>A, XM_011529871.4:c.555C>A, XM_011529871.3:c.555C>A, XM_011529871.2:c.555C>A, XM_011529871.1:c.555C>A, XM_011529870.4:c.639C>A, XM_011529870.3:c.639C>A, XM_011529870.2:c.639C>A, XM_011529870.1:c.639C>A, XM_005261329.4:c.504C>A, XM_005261329.3:c.504C>A, XM_005261329.2:c.504C>A, XM_005261329.1:c.504C>A, XM_011529872.4:c.639C>A, XM_011529872.3:c.639C>A, XM_011529872.2:c.639C>A, XM_011529872.1:c.639C>A, XM_011529873.4:c.639C>A, XM_011529873.3:c.639C>A, XM_011529873.2:c.639C>A, XM_011529873.1:c.639C>A, XR_937810.4:n.782C>A, XR_937810.3:n.764C>A, XR_937810.2:n.723C>A, XR_937810.1:n.737C>A, NM_001267895.2:c.582C>A, NM_001267895.1:c.582C>A, XM_011529875.2:c.174C>A, XM_011529875.1:c.174C>A, XM_011529876.2:c.102C>A, XM_011529876.1:c.102C>A, NM_001410828.1:c.588C>A, XM_047441133.1:c.555C>A, XM_047441135.1:c.504C>A, XM_047441134.1:c.588C>A, XM_047441136.1:c.588C>A, XM_047441137.1:c.504C>A, XP_011528170.1:p.Asp213Glu, XP_011528171.1:p.Asp213Glu, XP_005261385.1:p.Asp196Glu, NP_597712.2:p.Asp196Glu, XP_011528173.1:p.Asp185Glu, XP_011528172.1:p.Asp213Glu, XP_005261386.1:p.Asp168Glu, XP_011528174.1:p.Asp213Glu, XP_011528175.1:p.Asp213Glu, NP_001254824.1:p.Asp194Glu, XP_011528177.1:p.Asp58Glu, XP_011528178.1:p.Asp34Glu, XP_047297089.1:p.Asp185Glu, XP_047297091.1:p.Asp168Glu, XP_047297090.1:p.Asp196Glu, XP_047297092.1:p.Asp196Glu, XP_047297093.1:p.Asp168Glu

            6.

            rs1473590208 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CAGGGACCCACTGGGCC>- [Show Flanks]
              Chromosome:
              22:29233429 (GRCh38)
              22:29629418 (GRCh37)
              Canonical SPDI:
              NC_000022.11:29233426:CCCAGGGACCCACTGGGCC:CC
              Gene:
              EMID1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
              Validated:
              by frequency,by alfa
              MAF:
              CC=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              NC_000022.11:g.29233429_29233445del, NC_000022.10:g.29629418_29629434del, XR_937808.4:n.1068_1084del, XR_937808.3:n.1050_1066del, XR_937808.2:n.1008_1024del, XR_937808.1:n.1023_1039del, XM_011529868.4:c.925_941del, XM_011529868.3:c.925_941del, XM_011529868.2:c.925_941del, XM_011529868.1:c.925_941del, XM_011529869.4:c.925_941del, XM_011529869.3:c.925_941del, XM_011529869.2:c.925_941del, XM_011529869.1:c.925_941del, XM_005261328.4:c.874_890del, NM_133455.4:c.874_890del, NM_133455.3:c.874_890del, XM_011529871.4:c.841_857del, XM_011529871.3:c.841_857del, XM_011529871.2:c.841_857del, XM_011529871.1:c.841_857del, XM_011529870.4:c.925_941del, XM_011529870.3:c.925_941del, XM_011529870.2:c.925_941del, XM_011529870.1:c.925_941del, XM_005261329.4:c.790_806del, XM_005261329.3:c.790_806del, XM_005261329.2:c.790_806del, XM_005261329.1:c.790_806del, XM_011529872.4:c.925_941del, XM_011529872.3:c.925_941del, XM_011529872.2:c.925_941del, XM_011529872.1:c.925_941del, XM_011529873.4:c.925_941del, XM_011529873.3:c.925_941del, XM_011529873.2:c.925_941del, XM_011529873.1:c.925_941del, XR_937810.4:n.1265_1281del, XR_937810.3:n.1247_1263del, XR_937810.2:n.1206_1222del, XR_937810.1:n.1220_1236del, NM_001267895.2:c.868_884del, NM_001267895.1:c.868_884del, XM_011529875.2:c.460_476del, XM_011529875.1:c.460_476del, XM_011529876.2:c.388_404del, XM_011529876.1:c.388_404del, NM_001410828.1:c.874_890del, XM_047441133.1:c.841_857del, XM_047441135.1:c.790_806del, XM_047441134.1:c.874_890del, XM_047441136.1:c.874_890del, XM_047441137.1:c.790_806del, XP_011528170.1:p.Gln309fs, XP_011528171.1:p.Gln309fs, XP_005261385.1:p.Gln292fs, NP_597712.2:p.Gln292fs, XP_011528173.1:p.Gln281fs, XP_011528172.1:p.Gln309fs, XP_005261386.1:p.Gln264fs, XP_011528174.1:p.Gln309fs, XP_011528175.1:p.Gln309fs, NP_001254824.1:p.Gln290fs, XP_011528177.1:p.Gln154fs, XP_011528178.1:p.Gln130fs, XP_047297089.1:p.Gln281fs, XP_047297091.1:p.Gln264fs, XP_047297090.1:p.Gln292fs, XP_047297092.1:p.Gln292fs, XP_047297093.1:p.Gln264fs

              7.

              rs1473144493 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                22:29232380 (GRCh38)
                22:29628369 (GRCh37)
                Canonical SPDI:
                NC_000022.11:29232379:C:A
                Gene:
                EMID1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000014/3 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.29232380C>A, NC_000022.10:g.29628369C>A, XR_937808.4:n.995C>A, XR_937808.3:n.977C>A, XR_937808.2:n.935C>A, XR_937808.1:n.950C>A, XM_011529868.4:c.852C>A, XM_011529868.3:c.852C>A, XM_011529868.2:c.852C>A, XM_011529868.1:c.852C>A, XM_011529869.4:c.852C>A, XM_011529869.3:c.852C>A, XM_011529869.2:c.852C>A, XM_011529869.1:c.852C>A, XM_005261328.4:c.801C>A, NM_133455.4:c.801C>A, NM_133455.3:c.801C>A, XM_011529871.4:c.768C>A, XM_011529871.3:c.768C>A, XM_011529871.2:c.768C>A, XM_011529871.1:c.768C>A, XM_011529870.4:c.852C>A, XM_011529870.3:c.852C>A, XM_011529870.2:c.852C>A, XM_011529870.1:c.852C>A, XM_005261329.4:c.717C>A, XM_005261329.3:c.717C>A, XM_005261329.2:c.717C>A, XM_005261329.1:c.717C>A, XM_011529872.4:c.852C>A, XM_011529872.3:c.852C>A, XM_011529872.2:c.852C>A, XM_011529872.1:c.852C>A, XM_011529873.4:c.852C>A, XM_011529873.3:c.852C>A, XM_011529873.2:c.852C>A, XM_011529873.1:c.852C>A, XR_937810.4:n.995C>A, XR_937810.3:n.977C>A, XR_937810.2:n.936C>A, XR_937810.1:n.950C>A, NM_001267895.2:c.795C>A, NM_001267895.1:c.795C>A, XM_011529875.2:c.387C>A, XM_011529875.1:c.387C>A, XM_011529876.2:c.315C>A, XM_011529876.1:c.315C>A, NM_001410828.1:c.801C>A, XM_047441133.1:c.768C>A, XM_047441135.1:c.717C>A, XM_047441134.1:c.801C>A, XM_047441136.1:c.801C>A, XM_047441137.1:c.717C>A

                8.

                rs1471464049 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  22:29243487 (GRCh38)
                  22:29639476 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:29243486:T:C
                  Gene:
                  EMID1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.29243487T>C, NC_000022.10:g.29639476T>C, XR_937808.4:n.1311T>C, XR_937808.3:n.1293T>C, XR_937808.2:n.1251T>C, XR_937808.1:n.1266T>C, XM_011529868.4:c.1168T>C, XM_011529868.3:c.1168T>C, XM_011529868.2:c.1168T>C, XM_011529868.1:c.1168T>C, XM_011529869.4:c.1168T>C, XM_011529869.3:c.1168T>C, XM_011529869.2:c.1168T>C, XM_011529869.1:c.1168T>C, XM_005261328.4:c.1117T>C, NM_133455.4:c.1117T>C, NM_133455.3:c.1117T>C, XM_011529871.4:c.1084T>C, XM_011529871.3:c.1084T>C, XM_011529871.2:c.1084T>C, XM_011529871.1:c.1084T>C, XM_011529870.4:c.1168T>C, XM_011529870.3:c.1168T>C, XM_011529870.2:c.1168T>C, XM_011529870.1:c.1168T>C, XM_005261329.4:c.1033T>C, XM_005261329.3:c.1033T>C, XM_005261329.2:c.1033T>C, XM_005261329.1:c.1033T>C, XM_011529872.4:c.1168T>C, XM_011529872.3:c.1168T>C, XM_011529872.2:c.1168T>C, XM_011529872.1:c.1168T>C, XM_011529873.4:c.1168T>C, XM_011529873.3:c.1168T>C, XM_011529873.2:c.1168T>C, XM_011529873.1:c.1168T>C, NM_001267895.2:c.1111T>C, NM_001267895.1:c.1111T>C, XM_011529875.2:c.703T>C, XM_011529875.1:c.703T>C, XM_011529876.2:c.631T>C, XM_011529876.1:c.631T>C, NM_001410828.1:c.1117T>C, XM_047441133.1:c.1084T>C, XM_047441135.1:c.1033T>C, XM_047441134.1:c.1117T>C, XM_047441136.1:c.1117T>C, XM_047441137.1:c.1033T>C, XP_011528170.1:p.Trp390Arg, XP_011528171.1:p.Trp390Arg, XP_005261385.1:p.Trp373Arg, NP_597712.2:p.Trp373Arg, XP_011528173.1:p.Trp362Arg, XP_011528172.1:p.Trp390Arg, XP_005261386.1:p.Trp345Arg, XP_011528174.1:p.Trp390Arg, XP_011528175.1:p.Trp390Arg, NP_001254824.1:p.Trp371Arg, XP_011528177.1:p.Trp235Arg, XP_011528178.1:p.Trp211Arg, XP_047297089.1:p.Trp362Arg, XP_047297091.1:p.Trp345Arg, XP_047297090.1:p.Trp373Arg, XP_047297092.1:p.Trp373Arg, XP_047297093.1:p.Trp345Arg

                  9.

                  rs1468949391 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:29233439 (GRCh38)
                    22:29629428 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:29233438:C:T
                    Gene:
                    EMID1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000022.11:g.29233439C>T, NC_000022.10:g.29629428C>T, XR_937808.4:n.1078C>T, XR_937808.3:n.1060C>T, XR_937808.2:n.1018C>T, XR_937808.1:n.1033C>T, XM_011529868.4:c.935C>T, XM_011529868.3:c.935C>T, XM_011529868.2:c.935C>T, XM_011529868.1:c.935C>T, XM_011529869.4:c.935C>T, XM_011529869.3:c.935C>T, XM_011529869.2:c.935C>T, XM_011529869.1:c.935C>T, XM_005261328.4:c.884C>T, NM_133455.4:c.884C>T, NM_133455.3:c.884C>T, XM_011529871.4:c.851C>T, XM_011529871.3:c.851C>T, XM_011529871.2:c.851C>T, XM_011529871.1:c.851C>T, XM_011529870.4:c.935C>T, XM_011529870.3:c.935C>T, XM_011529870.2:c.935C>T, XM_011529870.1:c.935C>T, XM_005261329.4:c.800C>T, XM_005261329.3:c.800C>T, XM_005261329.2:c.800C>T, XM_005261329.1:c.800C>T, XM_011529872.4:c.935C>T, XM_011529872.3:c.935C>T, XM_011529872.2:c.935C>T, XM_011529872.1:c.935C>T, XM_011529873.4:c.935C>T, XM_011529873.3:c.935C>T, XM_011529873.2:c.935C>T, XM_011529873.1:c.935C>T, XR_937810.4:n.1275C>T, XR_937810.3:n.1257C>T, XR_937810.2:n.1216C>T, XR_937810.1:n.1230C>T, NM_001267895.2:c.878C>T, NM_001267895.1:c.878C>T, XM_011529875.2:c.470C>T, XM_011529875.1:c.470C>T, XM_011529876.2:c.398C>T, XM_011529876.1:c.398C>T, NM_001410828.1:c.884C>T, XM_047441133.1:c.851C>T, XM_047441135.1:c.800C>T, XM_047441134.1:c.884C>T, XM_047441136.1:c.884C>T, XM_047441137.1:c.800C>T, XP_011528170.1:p.Thr312Ile, XP_011528171.1:p.Thr312Ile, XP_005261385.1:p.Thr295Ile, NP_597712.2:p.Thr295Ile, XP_011528173.1:p.Thr284Ile, XP_011528172.1:p.Thr312Ile, XP_005261386.1:p.Thr267Ile, XP_011528174.1:p.Thr312Ile, XP_011528175.1:p.Thr312Ile, NP_001254824.1:p.Thr293Ile, XP_011528177.1:p.Thr157Ile, XP_011528178.1:p.Thr133Ile, XP_047297089.1:p.Thr284Ile, XP_047297091.1:p.Thr267Ile, XP_047297090.1:p.Thr295Ile, XP_047297092.1:p.Thr295Ile, XP_047297093.1:p.Thr267Ile

                    10.

                    rs1468827001 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:29231675 (GRCh38)
                      22:29627664 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:29231674:C:T
                      Gene:
                      EMID1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000022.11:g.29231675C>T, NC_000022.10:g.29627664C>T, XR_937808.4:n.863C>T, XR_937808.3:n.845C>T, XR_937808.2:n.803C>T, XR_937808.1:n.818C>T, XM_011529868.4:c.720C>T, XM_011529868.3:c.720C>T, XM_011529868.2:c.720C>T, XM_011529868.1:c.720C>T, XM_011529869.4:c.720C>T, XM_011529869.3:c.720C>T, XM_011529869.2:c.720C>T, XM_011529869.1:c.720C>T, XM_005261328.4:c.669C>T, NM_133455.4:c.669C>T, NM_133455.3:c.669C>T, XM_011529871.4:c.636C>T, XM_011529871.3:c.636C>T, XM_011529871.2:c.636C>T, XM_011529871.1:c.636C>T, XM_011529870.4:c.720C>T, XM_011529870.3:c.720C>T, XM_011529870.2:c.720C>T, XM_011529870.1:c.720C>T, XM_005261329.4:c.585C>T, XM_005261329.3:c.585C>T, XM_005261329.2:c.585C>T, XM_005261329.1:c.585C>T, XM_011529872.4:c.720C>T, XM_011529872.3:c.720C>T, XM_011529872.2:c.720C>T, XM_011529872.1:c.720C>T, XM_011529873.4:c.720C>T, XM_011529873.3:c.720C>T, XM_011529873.2:c.720C>T, XM_011529873.1:c.720C>T, XR_937810.4:n.863C>T, XR_937810.3:n.845C>T, XR_937810.2:n.804C>T, XR_937810.1:n.818C>T, NM_001267895.2:c.663C>T, NM_001267895.1:c.663C>T, XM_011529875.2:c.255C>T, XM_011529875.1:c.255C>T, XM_011529876.2:c.183C>T, XM_011529876.1:c.183C>T, NM_001410828.1:c.669C>T, XM_047441133.1:c.636C>T, XM_047441135.1:c.585C>T, XM_047441134.1:c.669C>T, XM_047441136.1:c.669C>T, XM_047441137.1:c.585C>T

                      11.

                      rs1468399922 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        22:29232256 (GRCh38)
                        22:29628245 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:29232255:G:T
                        Gene:
                        EMID1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.29232256G>T, NC_000022.10:g.29628245G>T, XR_937808.4:n.871G>T, XR_937808.3:n.853G>T, XR_937808.2:n.811G>T, XR_937808.1:n.826G>T, XM_011529868.4:c.728G>T, XM_011529868.3:c.728G>T, XM_011529868.2:c.728G>T, XM_011529868.1:c.728G>T, XM_011529869.4:c.728G>T, XM_011529869.3:c.728G>T, XM_011529869.2:c.728G>T, XM_011529869.1:c.728G>T, XM_005261328.4:c.677G>T, NM_133455.4:c.677G>T, NM_133455.3:c.677G>T, XM_011529871.4:c.644G>T, XM_011529871.3:c.644G>T, XM_011529871.2:c.644G>T, XM_011529871.1:c.644G>T, XM_011529870.4:c.728G>T, XM_011529870.3:c.728G>T, XM_011529870.2:c.728G>T, XM_011529870.1:c.728G>T, XM_005261329.4:c.593G>T, XM_005261329.3:c.593G>T, XM_005261329.2:c.593G>T, XM_005261329.1:c.593G>T, XM_011529872.4:c.728G>T, XM_011529872.3:c.728G>T, XM_011529872.2:c.728G>T, XM_011529872.1:c.728G>T, XM_011529873.4:c.728G>T, XM_011529873.3:c.728G>T, XM_011529873.2:c.728G>T, XM_011529873.1:c.728G>T, XR_937810.4:n.871G>T, XR_937810.3:n.853G>T, XR_937810.2:n.812G>T, XR_937810.1:n.826G>T, NM_001267895.2:c.671G>T, NM_001267895.1:c.671G>T, XM_011529875.2:c.263G>T, XM_011529875.1:c.263G>T, XM_011529876.2:c.191G>T, XM_011529876.1:c.191G>T, NM_001410828.1:c.677G>T, XM_047441133.1:c.644G>T, XM_047441135.1:c.593G>T, XM_047441134.1:c.677G>T, XM_047441136.1:c.677G>T, XM_047441137.1:c.593G>T, XP_011528170.1:p.Gly243Val, XP_011528171.1:p.Gly243Val, XP_005261385.1:p.Gly226Val, NP_597712.2:p.Gly226Val, XP_011528173.1:p.Gly215Val, XP_011528172.1:p.Gly243Val, XP_005261386.1:p.Gly198Val, XP_011528174.1:p.Gly243Val, XP_011528175.1:p.Gly243Val, NP_001254824.1:p.Gly224Val, XP_011528177.1:p.Gly88Val, XP_011528178.1:p.Gly64Val, XP_047297089.1:p.Gly215Val, XP_047297091.1:p.Gly198Val, XP_047297090.1:p.Gly226Val, XP_047297092.1:p.Gly226Val, XP_047297093.1:p.Gly198Val

                        12.

                        rs1459562254 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:29234148 (GRCh38)
                          22:29630137 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:29234147:C:A
                          Gene:
                          EMID1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.00013/3 (ALFA)
                          A=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.29234148C>A, NC_000022.10:g.29630137C>A, XR_937808.4:n.1172C>A, XR_937808.3:n.1154C>A, XR_937808.2:n.1112C>A, XR_937808.1:n.1127C>A, XM_011529868.4:c.1029C>A, XM_011529868.3:c.1029C>A, XM_011529868.2:c.1029C>A, XM_011529868.1:c.1029C>A, XM_011529869.4:c.1029C>A, XM_011529869.3:c.1029C>A, XM_011529869.2:c.1029C>A, XM_011529869.1:c.1029C>A, XM_005261328.4:c.978C>A, NM_133455.4:c.978C>A, NM_133455.3:c.978C>A, XM_011529871.4:c.945C>A, XM_011529871.3:c.945C>A, XM_011529871.2:c.945C>A, XM_011529871.1:c.945C>A, XM_011529870.4:c.1029C>A, XM_011529870.3:c.1029C>A, XM_011529870.2:c.1029C>A, XM_011529870.1:c.1029C>A, XM_005261329.4:c.894C>A, XM_005261329.3:c.894C>A, XM_005261329.2:c.894C>A, XM_005261329.1:c.894C>A, XM_011529872.4:c.1029C>A, XM_011529872.3:c.1029C>A, XM_011529872.2:c.1029C>A, XM_011529872.1:c.1029C>A, XM_011529873.4:c.1029C>A, XM_011529873.3:c.1029C>A, XM_011529873.2:c.1029C>A, XM_011529873.1:c.1029C>A, NM_001267895.2:c.972C>A, NM_001267895.1:c.972C>A, XM_011529875.2:c.564C>A, XM_011529875.1:c.564C>A, XM_011529876.2:c.492C>A, XM_011529876.1:c.492C>A, NM_001410828.1:c.978C>A, XM_047441133.1:c.945C>A, XM_047441135.1:c.894C>A, XM_047441134.1:c.978C>A, XM_047441136.1:c.978C>A, XM_047441137.1:c.894C>A

                          13.

                          rs1456912607 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            22:29255306 (GRCh38)
                            22:29651295 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:29255305:T:G
                            Gene:
                            EMID1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            G=0.000019/5 (TOPMED)
                            HGVS:

                            14.

                            rs1455130364 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              22:29258908 (GRCh38)
                              22:29654897 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:29258907:G:C
                              Gene:
                              EMID1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.29258908G>C, NC_000022.10:g.29654897G>C, XR_937808.4:n.1651G>C, XR_937808.2:n.1591G>C, XR_937808.1:n.1606G>C, XM_011529868.4:c.1353G>C, XM_011529868.3:c.1353G>C, XM_011529868.2:c.1353G>C, XM_011529868.1:c.1353G>C, XM_011529869.4:c.1347G>C, XM_011529869.3:c.1347G>C, XM_011529869.2:c.1347G>C, XM_011529869.1:c.1347G>C, XM_005261328.4:c.1302G>C, NM_133455.4:c.1296G>C, NM_133455.3:c.1296G>C, XM_011529871.4:c.1269G>C, XM_011529871.3:c.1269G>C, XM_011529871.2:c.1269G>C, XM_011529871.1:c.1269G>C, XM_011529870.4:c.1262G>C, XM_011529870.3:c.1262G>C, XM_011529870.2:c.1262G>C, XM_011529870.1:c.1262G>C, XM_005261329.4:c.1218G>C, XM_005261329.3:c.1218G>C, XM_005261329.2:c.1218G>C, XM_005261329.1:c.1218G>C, NM_001267895.2:c.1290G>C, NM_001267895.1:c.1290G>C, XM_011529875.2:c.888G>C, XM_011529875.1:c.888G>C, XM_011529876.2:c.816G>C, XM_011529876.1:c.816G>C, NM_001410828.1:c.1302G>C, XM_047441133.1:c.1263G>C, XM_047441135.1:c.1212G>C, XM_047441134.1:c.1211G>C, XP_011528172.1:p.Gly421Ala, XP_047297090.1:p.Gly404Ala

                              15.

                              rs1449957125 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:29258836 (GRCh38)
                                22:29654825 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:29258835:G:A
                                Gene:
                                EMID1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000022.11:g.29258836G>A, NC_000022.10:g.29654825G>A, XR_937808.4:n.1579G>A, XR_937808.3:n.1561G>A, XR_937808.2:n.1519G>A, XR_937808.1:n.1534G>A, XM_011529868.4:c.1281G>A, XM_011529868.3:c.1281G>A, XM_011529868.2:c.1281G>A, XM_011529868.1:c.1281G>A, XM_011529869.4:c.1275G>A, XM_011529869.3:c.1275G>A, XM_011529869.2:c.1275G>A, XM_011529869.1:c.1275G>A, XM_005261328.4:c.1230G>A, NM_133455.4:c.1224G>A, NM_133455.3:c.1224G>A, XM_011529871.4:c.1197G>A, XM_011529871.3:c.1197G>A, XM_011529871.2:c.1197G>A, XM_011529871.1:c.1197G>A, XM_011529870.4:c.1190G>A, XM_011529870.3:c.1190G>A, XM_011529870.2:c.1190G>A, XM_011529870.1:c.1190G>A, XM_005261329.4:c.1146G>A, XM_005261329.3:c.1146G>A, XM_005261329.2:c.1146G>A, XM_005261329.1:c.1146G>A, NM_001267895.2:c.1218G>A, NM_001267895.1:c.1218G>A, XM_011529875.2:c.816G>A, XM_011529875.1:c.816G>A, XM_011529876.2:c.744G>A, XM_011529876.1:c.744G>A, NM_001410828.1:c.1230G>A, XM_047441133.1:c.1191G>A, XM_047441135.1:c.1140G>A, XM_047441134.1:c.1139G>A, XP_011528172.1:p.Gly397Glu, XP_047297090.1:p.Gly380Glu

                                16.

                                rs1447312744 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:29233661 (GRCh38)
                                  22:29629650 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:29233660:C:T
                                  Gene:
                                  EMID1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.29233661C>T, NC_000022.10:g.29629650C>T, XR_937808.4:n.1155C>T, XR_937808.3:n.1137C>T, XR_937808.2:n.1095C>T, XR_937808.1:n.1110C>T, XM_011529868.4:c.1012C>T, XM_011529868.3:c.1012C>T, XM_011529868.2:c.1012C>T, XM_011529868.1:c.1012C>T, XM_011529869.4:c.1012C>T, XM_011529869.3:c.1012C>T, XM_011529869.2:c.1012C>T, XM_011529869.1:c.1012C>T, XM_005261328.4:c.961C>T, NM_133455.4:c.961C>T, NM_133455.3:c.961C>T, XM_011529871.4:c.928C>T, XM_011529871.3:c.928C>T, XM_011529871.2:c.928C>T, XM_011529871.1:c.928C>T, XM_011529870.4:c.1012C>T, XM_011529870.3:c.1012C>T, XM_011529870.2:c.1012C>T, XM_011529870.1:c.1012C>T, XM_005261329.4:c.877C>T, XM_005261329.3:c.877C>T, XM_005261329.2:c.877C>T, XM_005261329.1:c.877C>T, XM_011529872.4:c.1012C>T, XM_011529872.3:c.1012C>T, XM_011529872.2:c.1012C>T, XM_011529872.1:c.1012C>T, XM_011529873.4:c.1012C>T, XM_011529873.3:c.1012C>T, XM_011529873.2:c.1012C>T, XM_011529873.1:c.1012C>T, NM_001267895.2:c.955C>T, NM_001267895.1:c.955C>T, XM_011529875.2:c.547C>T, XM_011529875.1:c.547C>T, XM_011529876.2:c.475C>T, XM_011529876.1:c.475C>T, NM_001410828.1:c.961C>T, XM_047441133.1:c.928C>T, XM_047441135.1:c.877C>T, XM_047441134.1:c.961C>T, XM_047441136.1:c.961C>T, XM_047441137.1:c.877C>T, XP_011528170.1:p.His338Tyr, XP_011528171.1:p.His338Tyr, XP_005261385.1:p.His321Tyr, NP_597712.2:p.His321Tyr, XP_011528173.1:p.His310Tyr, XP_011528172.1:p.His338Tyr, XP_005261386.1:p.His293Tyr, XP_011528174.1:p.His338Tyr, XP_011528175.1:p.His338Tyr, NP_001254824.1:p.His319Tyr, XP_011528177.1:p.His183Tyr, XP_011528178.1:p.His159Tyr, XP_047297089.1:p.His310Tyr, XP_047297091.1:p.His293Tyr, XP_047297090.1:p.His321Tyr, XP_047297092.1:p.His321Tyr, XP_047297093.1:p.His293Tyr

                                  17.

                                  rs1445149437 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:29234327 (GRCh38)
                                    22:29630316 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:29234326:C:T
                                    Gene:
                                    EMID1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    NC_000022.11:g.29234327C>T, NC_000022.10:g.29630316C>T, XR_937808.4:n.1246C>T, XR_937808.3:n.1228C>T, XR_937808.2:n.1186C>T, XR_937808.1:n.1201C>T, XM_011529868.4:c.1103C>T, XM_011529868.3:c.1103C>T, XM_011529868.2:c.1103C>T, XM_011529868.1:c.1103C>T, XM_011529869.4:c.1103C>T, XM_011529869.3:c.1103C>T, XM_011529869.2:c.1103C>T, XM_011529869.1:c.1103C>T, XM_005261328.4:c.1052C>T, NM_133455.4:c.1052C>T, NM_133455.3:c.1052C>T, XM_011529871.4:c.1019C>T, XM_011529871.3:c.1019C>T, XM_011529871.2:c.1019C>T, XM_011529871.1:c.1019C>T, XM_011529870.4:c.1103C>T, XM_011529870.3:c.1103C>T, XM_011529870.2:c.1103C>T, XM_011529870.1:c.1103C>T, XM_005261329.4:c.968C>T, XM_005261329.3:c.968C>T, XM_005261329.2:c.968C>T, XM_005261329.1:c.968C>T, XM_011529872.4:c.1103C>T, XM_011529872.3:c.1103C>T, XM_011529872.2:c.1103C>T, XM_011529872.1:c.1103C>T, XM_011529873.4:c.1103C>T, XM_011529873.3:c.1103C>T, XM_011529873.2:c.1103C>T, XM_011529873.1:c.1103C>T, NM_001267895.2:c.1046C>T, NM_001267895.1:c.1046C>T, XM_011529875.2:c.638C>T, XM_011529875.1:c.638C>T, XM_011529876.2:c.566C>T, XM_011529876.1:c.566C>T, NM_001410828.1:c.1052C>T, XM_047441133.1:c.1019C>T, XM_047441135.1:c.968C>T, XM_047441134.1:c.1052C>T, XM_047441136.1:c.1052C>T, XM_047441137.1:c.968C>T, XP_011528170.1:p.Pro368Leu, XP_011528171.1:p.Pro368Leu, XP_005261385.1:p.Pro351Leu, NP_597712.2:p.Pro351Leu, XP_011528173.1:p.Pro340Leu, XP_011528172.1:p.Pro368Leu, XP_005261386.1:p.Pro323Leu, XP_011528174.1:p.Pro368Leu, XP_011528175.1:p.Pro368Leu, NP_001254824.1:p.Pro349Leu, XP_011528177.1:p.Pro213Leu, XP_011528178.1:p.Pro189Leu, XP_047297089.1:p.Pro340Leu, XP_047297091.1:p.Pro323Leu, XP_047297090.1:p.Pro351Leu, XP_047297092.1:p.Pro351Leu, XP_047297093.1:p.Pro323Leu

                                    18.

                                    rs1442328581 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:29255304 (GRCh38)
                                      22:29651293 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:29255303:G:A
                                      Gene:
                                      EMID1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.00004/1 (TOMMO)
                                      HGVS:
                                      NC_000022.11:g.29255304G>A, NC_000022.10:g.29651293G>A, XM_011529868.4:c.1204G>A, XM_011529868.3:c.1204G>A, XM_011529868.2:c.1204G>A, XM_011529868.1:c.1204G>A, XM_005261328.4:c.1153G>A, XM_011529871.4:c.1120G>A, XM_011529871.3:c.1120G>A, XM_011529871.2:c.1120G>A, XM_011529871.1:c.1120G>A, XM_005261329.4:c.1069G>A, XM_005261329.3:c.1069G>A, XM_005261329.2:c.1069G>A, XM_005261329.1:c.1069G>A, XM_011529872.4:c.1204G>A, XM_011529872.3:c.1204G>A, XM_011529872.2:c.1204G>A, XM_011529872.1:c.1204G>A, XM_011529873.4:c.*26G>A, XM_011529873.3:c.*26G>A, XM_011529873.2:c.*26G>A, XM_011529873.1:c.*26G>A, XM_011529875.2:c.739G>A, XM_011529875.1:c.739G>A, XM_011529876.2:c.667G>A, XM_011529876.1:c.667G>A, NM_001410828.1:c.1153G>A, XM_047441136.1:c.*26G>A, XM_047441137.1:c.*26G>A, XP_011528170.1:p.Ala402Thr, XP_005261385.1:p.Ala385Thr, XP_011528173.1:p.Ala374Thr, XP_005261386.1:p.Ala357Thr, XP_011528174.1:p.Ala402Thr, XP_011528177.1:p.Ala247Thr, XP_011528178.1:p.Ala223Thr

                                      19.

                                      rs1441292029 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:29234182 (GRCh38)
                                        22:29630171 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:29234181:G:A
                                        Gene:
                                        EMID1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.29234182G>A, NC_000022.10:g.29630171G>A, XR_937808.4:n.1206G>A, XR_937808.3:n.1188G>A, XR_937808.2:n.1146G>A, XR_937808.1:n.1161G>A, XM_011529868.4:c.1063G>A, XM_011529868.3:c.1063G>A, XM_011529868.2:c.1063G>A, XM_011529868.1:c.1063G>A, XM_011529869.4:c.1063G>A, XM_011529869.3:c.1063G>A, XM_011529869.2:c.1063G>A, XM_011529869.1:c.1063G>A, XM_005261328.4:c.1012G>A, NM_133455.4:c.1012G>A, NM_133455.3:c.1012G>A, XM_011529871.4:c.979G>A, XM_011529871.3:c.979G>A, XM_011529871.2:c.979G>A, XM_011529871.1:c.979G>A, XM_011529870.4:c.1063G>A, XM_011529870.3:c.1063G>A, XM_011529870.2:c.1063G>A, XM_011529870.1:c.1063G>A, XM_005261329.4:c.928G>A, XM_005261329.3:c.928G>A, XM_005261329.2:c.928G>A, XM_005261329.1:c.928G>A, XM_011529872.4:c.1063G>A, XM_011529872.3:c.1063G>A, XM_011529872.2:c.1063G>A, XM_011529872.1:c.1063G>A, XM_011529873.4:c.1063G>A, XM_011529873.3:c.1063G>A, XM_011529873.2:c.1063G>A, XM_011529873.1:c.1063G>A, NM_001267895.2:c.1006G>A, NM_001267895.1:c.1006G>A, XM_011529875.2:c.598G>A, XM_011529875.1:c.598G>A, XM_011529876.2:c.526G>A, XM_011529876.1:c.526G>A, NM_001410828.1:c.1012G>A, XM_047441133.1:c.979G>A, XM_047441135.1:c.928G>A, XM_047441134.1:c.1012G>A, XM_047441136.1:c.1012G>A, XM_047441137.1:c.928G>A, XP_011528170.1:p.Gly355Arg, XP_011528171.1:p.Gly355Arg, XP_005261385.1:p.Gly338Arg, NP_597712.2:p.Gly338Arg, XP_011528173.1:p.Gly327Arg, XP_011528172.1:p.Gly355Arg, XP_005261386.1:p.Gly310Arg, XP_011528174.1:p.Gly355Arg, XP_011528175.1:p.Gly355Arg, NP_001254824.1:p.Gly336Arg, XP_011528177.1:p.Gly200Arg, XP_011528178.1:p.Gly176Arg, XP_047297089.1:p.Gly327Arg, XP_047297091.1:p.Gly310Arg, XP_047297090.1:p.Gly338Arg, XP_047297092.1:p.Gly338Arg, XP_047297093.1:p.Gly310Arg

                                        20.

                                        rs1439511155 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          22:29255349 (GRCh38)
                                          22:29651338 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:29255348:A:G
                                          Gene:
                                          EMID1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000022.11:g.29255349A>G, NC_000022.10:g.29651338A>G, XM_011529868.4:c.1249A>G, XM_011529868.3:c.1249A>G, XM_011529868.2:c.1249A>G, XM_011529868.1:c.1249A>G, XM_005261328.4:c.1198A>G, XM_011529871.4:c.1165A>G, XM_011529871.3:c.1165A>G, XM_011529871.2:c.1165A>G, XM_011529871.1:c.1165A>G, XM_005261329.4:c.1114A>G, XM_005261329.3:c.1114A>G, XM_005261329.2:c.1114A>G, XM_005261329.1:c.1114A>G, XM_011529872.4:c.1249A>G, XM_011529872.3:c.1249A>G, XM_011529872.2:c.1249A>G, XM_011529872.1:c.1249A>G, XM_011529873.4:c.*71A>G, XM_011529873.3:c.*71A>G, XM_011529873.2:c.*71A>G, XM_011529873.1:c.*71A>G, XM_011529875.2:c.784A>G, XM_011529875.1:c.784A>G, XM_011529876.2:c.712A>G, XM_011529876.1:c.712A>G, NM_001410828.1:c.1198A>G, XM_047441136.1:c.*71A>G, XM_047441137.1:c.*71A>G, XP_011528170.1:p.Ile417Val, XP_005261385.1:p.Ile400Val, XP_011528173.1:p.Ile389Val, XP_005261386.1:p.Ile372Val, XP_011528174.1:p.Ile417Val, XP_011528177.1:p.Ile262Val, XP_011528178.1:p.Ile238Val

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