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Items: 1 to 20 of 616

1.

rs1488086330 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    20:49862999 (GRCh38)
    20:48479536 (GRCh37)
    Canonical SPDI:
    NC_000020.11:49862998:G:A,NC_000020.11:49862998:G:T
    Gene:
    SLC9A8 (Varview), MIR12122 (Varview)
    Functional Consequence:
    missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000020.11:g.49862999G>A, NC_000020.11:g.49862999G>T, NC_000020.10:g.48479536G>A, NC_000020.10:g.48479536G>T, XM_011528736.3:c.931G>A, XM_011528736.3:c.931G>T, XM_011528736.2:c.931G>A, XM_011528736.2:c.931G>T, XM_011528736.1:c.931G>A, XM_011528736.1:c.931G>T, XM_011528738.3:c.931G>A, XM_011528738.3:c.931G>T, XM_011528738.2:c.931G>A, XM_011528738.2:c.931G>T, XM_011528738.1:c.931G>A, XM_011528738.1:c.931G>T, NM_015266.3:c.784G>A, NM_015266.3:c.784G>T, NM_015266.2:c.784G>A, NM_015266.2:c.784G>T, XM_011528741.3:c.832G>A, XM_011528741.3:c.832G>T, XM_011528741.2:c.832G>A, XM_011528741.2:c.832G>T, XM_011528741.1:c.832G>A, XM_011528741.1:c.832G>T, XM_017027754.3:c.931G>A, XM_017027754.3:c.931G>T, XM_017027754.2:c.931G>A, XM_017027754.2:c.931G>T, XM_017027754.1:c.931G>A, XM_017027754.1:c.931G>T, XM_011528740.3:c.931G>A, XM_011528740.3:c.931G>T, XM_011528740.2:c.931G>A, XM_011528740.2:c.931G>T, XM_011528740.1:c.931G>A, XM_011528740.1:c.931G>T, XM_011528745.3:c.*87G>A, XM_011528745.3:c.*87G>T, XM_011528745.2:c.*87G>A, XM_011528745.2:c.*87G>T, XM_011528745.1:c.*87G>A, XM_011528745.1:c.*87G>T, XM_006723756.2:c.883G>A, XM_006723756.2:c.883G>T, XM_006723756.1:c.883G>A, XM_006723756.1:c.883G>T, XM_011528737.2:c.847G>A, XM_011528737.2:c.847G>T, XM_011528737.1:c.847G>A, XM_011528737.1:c.847G>T, NM_001260491.2:c.832G>A, NM_001260491.2:c.832G>T, NM_001260491.1:c.832G>A, NM_001260491.1:c.832G>T, NR_048537.2:n.844G>A, NR_048537.2:n.844G>T, NR_048537.1:n.959G>A, NR_048537.1:n.959G>T, NR_048538.2:n.760G>A, NR_048538.2:n.760G>T, NR_048538.1:n.875G>A, NR_048538.1:n.875G>T, NR_048540.2:n.742G>A, NR_048540.2:n.742G>T, NR_048540.1:n.857G>A, NR_048540.1:n.857G>T, XM_047440069.1:c.754G>A, XM_047440069.1:c.754G>T, XM_047440070.1:c.700G>A, XM_047440070.1:c.700G>T, XM_047440071.1:c.784G>A, XM_047440071.1:c.784G>T, XM_047440072.1:c.226G>A, XM_047440072.1:c.226G>T, XM_047440073.1:c.*54G>A, XM_047440073.1:c.*54G>T, XP_011527038.1:p.Asp311Asn, XP_011527038.1:p.Asp311Tyr, XP_011527040.1:p.Asp311Asn, XP_011527040.1:p.Asp311Tyr, NP_056081.1:p.Asp262Asn, NP_056081.1:p.Asp262Tyr, XP_011527043.1:p.Asp278Asn, XP_011527043.1:p.Asp278Tyr, XP_016883243.1:p.Asp311Asn, XP_016883243.1:p.Asp311Tyr, XP_011527042.1:p.Asp311Asn, XP_011527042.1:p.Asp311Tyr, XP_006723819.1:p.Asp295Asn, XP_006723819.1:p.Asp295Tyr, XP_011527039.1:p.Asp283Asn, XP_011527039.1:p.Asp283Tyr, NP_001247420.1:p.Asp278Asn, NP_001247420.1:p.Asp278Tyr, XP_047296025.1:p.Asp252Asn, XP_047296025.1:p.Asp252Tyr, XP_047296026.1:p.Asp234Asn, XP_047296026.1:p.Asp234Tyr, XP_047296027.1:p.Asp262Asn, XP_047296027.1:p.Asp262Tyr, XP_047296028.1:p.Asp76Asn, XP_047296028.1:p.Asp76Tyr

    2.

    rs1488034277 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G,T [Show Flanks]
      Chromosome:
      20:49880944 (GRCh38)
      20:48497481 (GRCh37)
      Canonical SPDI:
      NC_000020.11:49880943:A:C,NC_000020.11:49880943:A:G,NC_000020.11:49880943:A:T
      Gene:
      SLC9A8 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000020.11:g.49880944A>C, NC_000020.11:g.49880944A>G, NC_000020.11:g.49880944A>T, NC_000020.10:g.48497481A>C, NC_000020.10:g.48497481A>G, NC_000020.10:g.48497481A>T, XM_011528736.3:c.1326A>C, XM_011528736.3:c.1326A>G, XM_011528736.3:c.1326A>T, XM_011528736.2:c.1326A>C, XM_011528736.2:c.1326A>G, XM_011528736.2:c.1326A>T, XM_011528736.1:c.1326A>C, XM_011528736.1:c.1326A>G, XM_011528736.1:c.1326A>T, XM_011528738.3:c.1209A>C, XM_011528738.3:c.1209A>G, XM_011528738.3:c.1209A>T, XM_011528738.2:c.1209A>C, XM_011528738.2:c.1209A>G, XM_011528738.2:c.1209A>T, XM_011528738.1:c.1209A>C, XM_011528738.1:c.1209A>G, XM_011528738.1:c.1209A>T, NM_015266.3:c.1179A>C, NM_015266.3:c.1179A>G, NM_015266.3:c.1179A>T, NM_015266.2:c.1179A>C, NM_015266.2:c.1179A>G, NM_015266.2:c.1179A>T, XM_011528741.3:c.1110A>C, XM_011528741.3:c.1110A>G, XM_011528741.3:c.1110A>T, XM_011528741.2:c.1110A>C, XM_011528741.2:c.1110A>G, XM_011528741.2:c.1110A>T, XM_011528741.1:c.1110A>C, XM_011528741.1:c.1110A>G, XM_011528741.1:c.1110A>T, XM_017027754.3:c.1326A>C, XM_017027754.3:c.1326A>G, XM_017027754.3:c.1326A>T, XM_017027754.2:c.1326A>C, XM_017027754.2:c.1326A>G, XM_017027754.2:c.1326A>T, XM_017027754.1:c.1326A>C, XM_017027754.1:c.1326A>G, XM_017027754.1:c.1326A>T, XM_011528740.3:c.1326A>C, XM_011528740.3:c.1326A>G, XM_011528740.3:c.1326A>T, XM_011528740.2:c.1326A>C, XM_011528740.2:c.1326A>G, XM_011528740.2:c.1326A>T, XM_011528740.1:c.1326A>C, XM_011528740.1:c.1326A>G, XM_011528740.1:c.1326A>T, XM_006723756.2:c.1278A>C, XM_006723756.2:c.1278A>G, XM_006723756.2:c.1278A>T, XM_006723756.1:c.1278A>C, XM_006723756.1:c.1278A>G, XM_006723756.1:c.1278A>T, XM_011528737.2:c.1242A>C, XM_011528737.2:c.1242A>G, XM_011528737.2:c.1242A>T, XM_011528737.1:c.1242A>C, XM_011528737.1:c.1242A>G, XM_011528737.1:c.1242A>T, NM_001260491.2:c.1227A>C, NM_001260491.2:c.1227A>G, NM_001260491.2:c.1227A>T, NM_001260491.1:c.1227A>C, NM_001260491.1:c.1227A>G, NM_001260491.1:c.1227A>T, NR_048537.2:n.1239A>C, NR_048537.2:n.1239A>G, NR_048537.2:n.1239A>T, NR_048537.1:n.1354A>C, NR_048537.1:n.1354A>G, NR_048537.1:n.1354A>T, NR_048538.2:n.1155A>C, NR_048538.2:n.1155A>G, NR_048538.2:n.1155A>T, NR_048538.1:n.1270A>C, NR_048538.1:n.1270A>G, NR_048538.1:n.1270A>T, NR_048539.2:n.1111A>C, NR_048539.2:n.1111A>G, NR_048539.2:n.1111A>T, NR_048539.1:n.1226A>C, NR_048539.1:n.1226A>G, NR_048539.1:n.1226A>T, NR_048540.2:n.937A>C, NR_048540.2:n.937A>G, NR_048540.2:n.937A>T, NR_048540.1:n.1052A>C, NR_048540.1:n.1052A>G, NR_048540.1:n.1052A>T, XM_047440069.1:c.1149A>C, XM_047440069.1:c.1149A>G, XM_047440069.1:c.1149A>T, XM_047440070.1:c.1095A>C, XM_047440070.1:c.1095A>G, XM_047440070.1:c.1095A>T, XM_047440071.1:c.1062A>C, XM_047440071.1:c.1062A>G, XM_047440071.1:c.1062A>T, XM_047440072.1:c.621A>C, XM_047440072.1:c.621A>G, XM_047440072.1:c.621A>T, XP_011527038.1:p.Arg442Ser, XP_011527038.1:p.Arg442Ser, XP_011527040.1:p.Arg403Ser, XP_011527040.1:p.Arg403Ser, NP_056081.1:p.Arg393Ser, NP_056081.1:p.Arg393Ser, XP_011527043.1:p.Arg370Ser, XP_011527043.1:p.Arg370Ser, XP_016883243.1:p.Arg442Ser, XP_016883243.1:p.Arg442Ser, XP_011527042.1:p.Arg442Ser, XP_011527042.1:p.Arg442Ser, XP_006723819.1:p.Arg426Ser, XP_006723819.1:p.Arg426Ser, XP_011527039.1:p.Arg414Ser, XP_011527039.1:p.Arg414Ser, NP_001247420.1:p.Arg409Ser, NP_001247420.1:p.Arg409Ser, XP_047296025.1:p.Arg383Ser, XP_047296025.1:p.Arg383Ser, XP_047296026.1:p.Arg365Ser, XP_047296026.1:p.Arg365Ser, XP_047296027.1:p.Arg354Ser, XP_047296027.1:p.Arg354Ser, XP_047296028.1:p.Arg207Ser, XP_047296028.1:p.Arg207Ser

      3.

      rs1486259216 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        20:49883877 (GRCh38)
        20:48500414 (GRCh37)
        Canonical SPDI:
        NC_000020.11:49883876:C:A,NC_000020.11:49883876:C:T
        Gene:
        SLC9A8 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.49883877C>A, NC_000020.11:g.49883877C>T, NC_000020.10:g.48500414C>A, NC_000020.10:g.48500414C>T, XM_011528736.3:c.1449C>A, XM_011528736.3:c.1449C>T, XM_011528736.2:c.1449C>A, XM_011528736.2:c.1449C>T, XM_011528736.1:c.1449C>A, XM_011528736.1:c.1449C>T, XM_011528738.3:c.1332C>A, XM_011528738.3:c.1332C>T, XM_011528738.2:c.1332C>A, XM_011528738.2:c.1332C>T, XM_011528738.1:c.1332C>A, XM_011528738.1:c.1332C>T, NM_015266.3:c.1302C>A, NM_015266.3:c.1302C>T, NM_015266.2:c.1302C>A, NM_015266.2:c.1302C>T, XM_011528741.3:c.1233C>A, XM_011528741.3:c.1233C>T, XM_011528741.2:c.1233C>A, XM_011528741.2:c.1233C>T, XM_011528741.1:c.1233C>A, XM_011528741.1:c.1233C>T, XM_017027754.3:c.1449C>A, XM_017027754.3:c.1449C>T, XM_017027754.2:c.1449C>A, XM_017027754.2:c.1449C>T, XM_017027754.1:c.1449C>A, XM_017027754.1:c.1449C>T, XM_011528740.3:c.1449C>A, XM_011528740.3:c.1449C>T, XM_011528740.2:c.1449C>A, XM_011528740.2:c.1449C>T, XM_011528740.1:c.1449C>A, XM_011528740.1:c.1449C>T, XM_006723756.2:c.1401C>A, XM_006723756.2:c.1401C>T, XM_006723756.1:c.1401C>A, XM_006723756.1:c.1401C>T, XM_011528737.2:c.1365C>A, XM_011528737.2:c.1365C>T, XM_011528737.1:c.1365C>A, XM_011528737.1:c.1365C>T, NM_001260491.2:c.1350C>A, NM_001260491.2:c.1350C>T, NM_001260491.1:c.1350C>A, NM_001260491.1:c.1350C>T, NR_048537.2:n.1362C>A, NR_048537.2:n.1362C>T, NR_048537.1:n.1477C>A, NR_048537.1:n.1477C>T, NR_048538.2:n.1278C>A, NR_048538.2:n.1278C>T, NR_048538.1:n.1393C>A, NR_048538.1:n.1393C>T, NR_048539.2:n.1234C>A, NR_048539.2:n.1234C>T, NR_048539.1:n.1349C>A, NR_048539.1:n.1349C>T, NR_048540.2:n.1060C>A, NR_048540.2:n.1060C>T, NR_048540.1:n.1175C>A, NR_048540.1:n.1175C>T, XM_047440069.1:c.1272C>A, XM_047440069.1:c.1272C>T, XM_047440070.1:c.1218C>A, XM_047440070.1:c.1218C>T, XM_047440071.1:c.1185C>A, XM_047440071.1:c.1185C>T, XM_047440072.1:c.744C>A, XM_047440072.1:c.744C>T, XP_011527038.1:p.Ser483Arg, XP_011527040.1:p.Ser444Arg, NP_056081.1:p.Ser434Arg, XP_011527043.1:p.Ser411Arg, XP_016883243.1:p.Ser483Arg, XP_011527042.1:p.Ser483Arg, XP_006723819.1:p.Ser467Arg, XP_011527039.1:p.Ser455Arg, NP_001247420.1:p.Ser450Arg, XP_047296025.1:p.Ser424Arg, XP_047296026.1:p.Ser406Arg, XP_047296027.1:p.Ser395Arg, XP_047296028.1:p.Ser248Arg

        4.

        rs1485050250 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          20:49845084 (GRCh38)
          20:48461621 (GRCh37)
          Canonical SPDI:
          NC_000020.11:49845083:C:G,NC_000020.11:49845083:C:T
          Gene:
          SLC9A8 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000020.11:g.49845084C>G, NC_000020.11:g.49845084C>T, NC_000020.10:g.48461621C>G, NC_000020.10:g.48461621C>T, XM_011528736.3:c.397C>G, XM_011528736.3:c.397C>T, XM_011528736.2:c.397C>G, XM_011528736.2:c.397C>T, XM_011528736.1:c.397C>G, XM_011528736.1:c.397C>T, XM_011528738.3:c.397C>G, XM_011528738.3:c.397C>T, XM_011528738.2:c.397C>G, XM_011528738.2:c.397C>T, XM_011528738.1:c.397C>G, XM_011528738.1:c.397C>T, NM_015266.3:c.397C>G, NM_015266.3:c.397C>T, NM_015266.2:c.397C>G, NM_015266.2:c.397C>T, XM_011528741.3:c.397C>G, XM_011528741.3:c.397C>T, XM_011528741.2:c.397C>G, XM_011528741.2:c.397C>T, XM_011528741.1:c.397C>G, XM_011528741.1:c.397C>T, XM_017027754.3:c.397C>G, XM_017027754.3:c.397C>T, XM_017027754.2:c.397C>G, XM_017027754.2:c.397C>T, XM_017027754.1:c.397C>G, XM_017027754.1:c.397C>T, XM_011528740.3:c.397C>G, XM_011528740.3:c.397C>T, XM_011528740.2:c.397C>G, XM_011528740.2:c.397C>T, XM_011528740.1:c.397C>G, XM_011528740.1:c.397C>T, XM_011528745.3:c.397C>G, XM_011528745.3:c.397C>T, XM_011528745.2:c.397C>G, XM_011528745.2:c.397C>T, XM_011528745.1:c.397C>G, XM_011528745.1:c.397C>T, XM_006723756.2:c.397C>G, XM_006723756.2:c.397C>T, XM_006723756.1:c.397C>G, XM_006723756.1:c.397C>T, NM_001260491.2:c.397C>G, NM_001260491.2:c.397C>T, NM_001260491.1:c.397C>G, NM_001260491.1:c.397C>T, NR_048537.2:n.492C>G, NR_048537.2:n.492C>T, NR_048537.1:n.607C>G, NR_048537.1:n.607C>T, NR_048539.2:n.492C>G, NR_048539.2:n.492C>T, NR_048539.1:n.607C>G, NR_048539.1:n.607C>T, NR_048540.2:n.492C>G, NR_048540.2:n.492C>T, NR_048540.1:n.607C>G, NR_048540.1:n.607C>T, XM_047440069.1:c.220C>G, XM_047440069.1:c.220C>T, XM_047440071.1:c.397C>G, XM_047440071.1:c.397C>T, XM_047440073.1:c.397C>G, XM_047440073.1:c.397C>T, XP_011527038.1:p.Pro133Ala, XP_011527038.1:p.Pro133Ser, XP_011527040.1:p.Pro133Ala, XP_011527040.1:p.Pro133Ser, NP_056081.1:p.Pro133Ala, NP_056081.1:p.Pro133Ser, XP_011527043.1:p.Pro133Ala, XP_011527043.1:p.Pro133Ser, XP_016883243.1:p.Pro133Ala, XP_016883243.1:p.Pro133Ser, XP_011527042.1:p.Pro133Ala, XP_011527042.1:p.Pro133Ser, XP_011527047.1:p.Pro133Ala, XP_011527047.1:p.Pro133Ser, XP_006723819.1:p.Pro133Ala, XP_006723819.1:p.Pro133Ser, NP_001247420.1:p.Pro133Ala, NP_001247420.1:p.Pro133Ser, XP_047296025.1:p.Pro74Ala, XP_047296025.1:p.Pro74Ser, XP_047296027.1:p.Pro133Ala, XP_047296027.1:p.Pro133Ser, XP_047296029.1:p.Pro133Ala, XP_047296029.1:p.Pro133Ser

          5.

          rs1481324887 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            20:49881028 (GRCh38)
            20:48497565 (GRCh37)
            Canonical SPDI:
            NC_000020.11:49881027:G:A,NC_000020.11:49881027:G:T
            Gene:
            SLC9A8 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
            HGVS:
            NC_000020.11:g.49881028G>A, NC_000020.11:g.49881028G>T, NC_000020.10:g.48497565G>A, NC_000020.10:g.48497565G>T, XM_011528736.3:c.1410G>A, XM_011528736.3:c.1410G>T, XM_011528736.2:c.1410G>A, XM_011528736.2:c.1410G>T, XM_011528736.1:c.1410G>A, XM_011528736.1:c.1410G>T, XM_011528738.3:c.1293G>A, XM_011528738.3:c.1293G>T, XM_011528738.2:c.1293G>A, XM_011528738.2:c.1293G>T, XM_011528738.1:c.1293G>A, XM_011528738.1:c.1293G>T, NM_015266.3:c.1263G>A, NM_015266.3:c.1263G>T, NM_015266.2:c.1263G>A, NM_015266.2:c.1263G>T, XM_011528741.3:c.1194G>A, XM_011528741.3:c.1194G>T, XM_011528741.2:c.1194G>A, XM_011528741.2:c.1194G>T, XM_011528741.1:c.1194G>A, XM_011528741.1:c.1194G>T, XM_017027754.3:c.1410G>A, XM_017027754.3:c.1410G>T, XM_017027754.2:c.1410G>A, XM_017027754.2:c.1410G>T, XM_017027754.1:c.1410G>A, XM_017027754.1:c.1410G>T, XM_011528740.3:c.1410G>A, XM_011528740.3:c.1410G>T, XM_011528740.2:c.1410G>A, XM_011528740.2:c.1410G>T, XM_011528740.1:c.1410G>A, XM_011528740.1:c.1410G>T, XM_006723756.2:c.1362G>A, XM_006723756.2:c.1362G>T, XM_006723756.1:c.1362G>A, XM_006723756.1:c.1362G>T, XM_011528737.2:c.1326G>A, XM_011528737.2:c.1326G>T, XM_011528737.1:c.1326G>A, XM_011528737.1:c.1326G>T, NM_001260491.2:c.1311G>A, NM_001260491.2:c.1311G>T, NM_001260491.1:c.1311G>A, NM_001260491.1:c.1311G>T, NR_048537.2:n.1323G>A, NR_048537.2:n.1323G>T, NR_048537.1:n.1438G>A, NR_048537.1:n.1438G>T, NR_048538.2:n.1239G>A, NR_048538.2:n.1239G>T, NR_048538.1:n.1354G>A, NR_048538.1:n.1354G>T, NR_048539.2:n.1195G>A, NR_048539.2:n.1195G>T, NR_048539.1:n.1310G>A, NR_048539.1:n.1310G>T, NR_048540.2:n.1021G>A, NR_048540.2:n.1021G>T, NR_048540.1:n.1136G>A, NR_048540.1:n.1136G>T, XM_047440069.1:c.1233G>A, XM_047440069.1:c.1233G>T, XM_047440070.1:c.1179G>A, XM_047440070.1:c.1179G>T, XM_047440071.1:c.1146G>A, XM_047440071.1:c.1146G>T, XM_047440072.1:c.705G>A, XM_047440072.1:c.705G>T, XP_011527038.1:p.Trp470Ter, XP_011527038.1:p.Trp470Cys, XP_011527040.1:p.Trp431Ter, XP_011527040.1:p.Trp431Cys, NP_056081.1:p.Trp421Ter, NP_056081.1:p.Trp421Cys, XP_011527043.1:p.Trp398Ter, XP_011527043.1:p.Trp398Cys, XP_016883243.1:p.Trp470Ter, XP_016883243.1:p.Trp470Cys, XP_011527042.1:p.Trp470Ter, XP_011527042.1:p.Trp470Cys, XP_006723819.1:p.Trp454Ter, XP_006723819.1:p.Trp454Cys, XP_011527039.1:p.Trp442Ter, XP_011527039.1:p.Trp442Cys, NP_001247420.1:p.Trp437Ter, NP_001247420.1:p.Trp437Cys, XP_047296025.1:p.Trp411Ter, XP_047296025.1:p.Trp411Cys, XP_047296026.1:p.Trp393Ter, XP_047296026.1:p.Trp393Cys, XP_047296027.1:p.Trp382Ter, XP_047296027.1:p.Trp382Cys, XP_047296028.1:p.Trp235Ter, XP_047296028.1:p.Trp235Cys

            6.

            rs1479963725 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              20:49845059 (GRCh38)
              20:48461596 (GRCh37)
              Canonical SPDI:
              NC_000020.11:49845058:C:T
              Gene:
              SLC9A8 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000020.11:g.49845059C>T, NC_000020.10:g.48461596C>T, XM_011528736.3:c.372C>T, XM_011528736.2:c.372C>T, XM_011528736.1:c.372C>T, XM_011528738.3:c.372C>T, XM_011528738.2:c.372C>T, XM_011528738.1:c.372C>T, NM_015266.3:c.372C>T, NM_015266.2:c.372C>T, XM_011528741.3:c.372C>T, XM_011528741.2:c.372C>T, XM_011528741.1:c.372C>T, XM_017027754.3:c.372C>T, XM_017027754.2:c.372C>T, XM_017027754.1:c.372C>T, XM_011528740.3:c.372C>T, XM_011528740.2:c.372C>T, XM_011528740.1:c.372C>T, XM_011528745.3:c.372C>T, XM_011528745.2:c.372C>T, XM_011528745.1:c.372C>T, XM_006723756.2:c.372C>T, XM_006723756.1:c.372C>T, NM_001260491.2:c.372C>T, NM_001260491.1:c.372C>T, NR_048537.2:n.467C>T, NR_048537.1:n.582C>T, NR_048539.2:n.467C>T, NR_048539.1:n.582C>T, NR_048540.2:n.467C>T, NR_048540.1:n.582C>T, XM_047440069.1:c.195C>T, XM_047440071.1:c.372C>T, XM_047440073.1:c.372C>T

              7.

              rs1479049681 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                20:49850766 (GRCh38)
                20:48467303 (GRCh37)
                Canonical SPDI:
                NC_000020.11:49850765:T:G
                Gene:
                SLC9A8 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000011/3 (TOPMED)
                G=0.000017/4 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.49850766T>G, NC_000020.10:g.48467303T>G, XM_011528736.3:c.539T>G, XM_011528736.2:c.539T>G, XM_011528736.1:c.539T>G, XM_011528738.3:c.539T>G, XM_011528738.2:c.539T>G, XM_011528738.1:c.539T>G, XM_011528741.3:c.539T>G, XM_011528741.2:c.539T>G, XM_011528741.1:c.539T>G, XM_017027754.3:c.539T>G, XM_017027754.2:c.539T>G, XM_017027754.1:c.539T>G, XM_011528740.3:c.539T>G, XM_011528740.2:c.539T>G, XM_011528740.1:c.539T>G, XM_011528745.3:c.539T>G, XM_011528745.2:c.539T>G, XM_011528745.1:c.539T>G, XM_011528737.2:c.455T>G, XM_011528737.1:c.455T>G, NM_001260491.2:c.539T>G, NM_001260491.1:c.539T>G, XM_047440069.1:c.362T>G, XM_047440073.1:c.539T>G, XP_011527038.1:p.Phe180Cys, XP_011527040.1:p.Phe180Cys, XP_011527043.1:p.Phe180Cys, XP_016883243.1:p.Phe180Cys, XP_011527042.1:p.Phe180Cys, XP_011527047.1:p.Phe180Cys, XP_011527039.1:p.Phe152Cys, NP_001247420.1:p.Phe180Cys, XP_047296025.1:p.Phe121Cys, XP_047296029.1:p.Phe180Cys

                8.

                rs1477900646 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAG>- [Show Flanks]
                  Chromosome:
                  20:49884034 (GRCh38)
                  20:48500571 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:49884030:AAGAAG:AAG
                  Gene:
                  SLC9A8 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAGAAG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000020.11:g.49884031AAG[1], NC_000020.10:g.48500568AAG[1], XM_011528736.3:c.1603AAG[1], XM_011528736.2:c.1603AAG[1], XM_011528736.1:c.1603AAG[1], XM_011528738.3:c.1486AAG[1], XM_011528738.2:c.1486AAG[1], XM_011528738.1:c.1486AAG[1], NM_015266.3:c.1456AAG[1], NM_015266.2:c.1456AAG[1], XM_011528741.3:c.1387AAG[1], XM_011528741.2:c.1387AAG[1], XM_011528741.1:c.1387AAG[1], XM_017027754.3:c.1603AAG[1], XM_017027754.2:c.1603AAG[1], XM_017027754.1:c.1603AAG[1], XM_011528740.3:c.1603AAG[1], XM_011528740.2:c.1603AAG[1], XM_011528740.1:c.1603AAG[1], XM_006723756.2:c.1555AAG[1], XM_006723756.1:c.1555AAG[1], XM_011528737.2:c.1519AAG[1], XM_011528737.1:c.1519AAG[1], NM_001260491.2:c.1504AAG[1], NM_001260491.1:c.1504AAG[1], NR_048537.2:n.1516AAG[1], NR_048537.1:n.1631AAG[1], NR_048538.2:n.1432AAG[1], NR_048538.1:n.1547AAG[1], NR_048539.2:n.1388AAG[1], NR_048539.1:n.1503AAG[1], NR_048540.2:n.1214AAG[1], NR_048540.1:n.1329AAG[1], XM_047440069.1:c.1426AAG[1], XM_047440070.1:c.1372AAG[1], XM_047440071.1:c.1339AAG[1], XM_047440072.1:c.898AAG[1], XP_011527038.1:p.Lys536del, XP_011527040.1:p.Lys497del, NP_056081.1:p.Lys487del, XP_011527043.1:p.Lys464del, XP_016883243.1:p.Lys536del, XP_011527042.1:p.Lys536del, XP_006723819.1:p.Lys520del, XP_011527039.1:p.Lys508del, NP_001247420.1:p.Lys503del, XP_047296025.1:p.Lys477del, XP_047296026.1:p.Lys459del, XP_047296027.1:p.Lys448del, XP_047296028.1:p.Lys301del

                  9.

                  rs1477475878 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:49886761 (GRCh38)
                    20:48503298 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:49886760:G:A
                    Gene:
                    SLC9A8 (Varview)
                    Functional Consequence:
                    missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000020.11:g.49886761G>A, NC_000020.10:g.48503298G>A, XM_011528736.3:c.1648G>A, XM_011528736.2:c.1648G>A, XM_011528736.1:c.1648G>A, XM_011528738.3:c.1531G>A, XM_011528738.2:c.1531G>A, XM_011528738.1:c.1531G>A, NM_015266.3:c.1501G>A, NM_015266.2:c.1501G>A, XM_011528741.3:c.1432G>A, XM_011528741.2:c.1432G>A, XM_011528741.1:c.1432G>A, XM_006723756.2:c.1600G>A, XM_006723756.1:c.1600G>A, XM_011528737.2:c.1564G>A, XM_011528737.1:c.1564G>A, NM_001260491.2:c.1549G>A, NM_001260491.1:c.1549G>A, NR_048537.2:n.1561G>A, NR_048537.1:n.1676G>A, NR_048538.2:n.1477G>A, NR_048538.1:n.1592G>A, NR_048539.2:n.1433G>A, NR_048539.1:n.1548G>A, NR_048540.2:n.1259G>A, NR_048540.1:n.1374G>A, XM_047440069.1:c.1471G>A, XM_047440070.1:c.1417G>A, XM_047440071.1:c.1384G>A, XM_047440072.1:c.943G>A, XP_011527038.1:p.Val550Met, XP_011527040.1:p.Val511Met, NP_056081.1:p.Val501Met, XP_011527043.1:p.Val478Met, XP_006723819.1:p.Val534Met, XP_011527039.1:p.Val522Met, NP_001247420.1:p.Val517Met, XP_047296025.1:p.Val491Met, XP_047296026.1:p.Val473Met, XP_047296027.1:p.Val462Met, XP_047296028.1:p.Val315Met

                    10.

                    rs1476621590 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:49883885 (GRCh38)
                      20:48500422 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:49883884:T:C
                      Gene:
                      SLC9A8 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      HGVS:
                      NC_000020.11:g.49883885T>C, NC_000020.10:g.48500422T>C, XM_011528736.3:c.1457T>C, XM_011528736.2:c.1457T>C, XM_011528736.1:c.1457T>C, XM_011528738.3:c.1340T>C, XM_011528738.2:c.1340T>C, XM_011528738.1:c.1340T>C, NM_015266.3:c.1310T>C, NM_015266.2:c.1310T>C, XM_011528741.3:c.1241T>C, XM_011528741.2:c.1241T>C, XM_011528741.1:c.1241T>C, XM_017027754.3:c.1457T>C, XM_017027754.2:c.1457T>C, XM_017027754.1:c.1457T>C, XM_011528740.3:c.1457T>C, XM_011528740.2:c.1457T>C, XM_011528740.1:c.1457T>C, XM_006723756.2:c.1409T>C, XM_006723756.1:c.1409T>C, XM_011528737.2:c.1373T>C, XM_011528737.1:c.1373T>C, NM_001260491.2:c.1358T>C, NM_001260491.1:c.1358T>C, NR_048537.2:n.1370T>C, NR_048537.1:n.1485T>C, NR_048538.2:n.1286T>C, NR_048538.1:n.1401T>C, NR_048539.2:n.1242T>C, NR_048539.1:n.1357T>C, NR_048540.2:n.1068T>C, NR_048540.1:n.1183T>C, XM_047440069.1:c.1280T>C, XM_047440070.1:c.1226T>C, XM_047440071.1:c.1193T>C, XM_047440072.1:c.752T>C, XP_011527038.1:p.Leu486Pro, XP_011527040.1:p.Leu447Pro, NP_056081.1:p.Leu437Pro, XP_011527043.1:p.Leu414Pro, XP_016883243.1:p.Leu486Pro, XP_011527042.1:p.Leu486Pro, XP_006723819.1:p.Leu470Pro, XP_011527039.1:p.Leu458Pro, NP_001247420.1:p.Leu453Pro, XP_047296025.1:p.Leu427Pro, XP_047296026.1:p.Leu409Pro, XP_047296027.1:p.Leu398Pro, XP_047296028.1:p.Leu251Pro

                      11.

                      rs1474842123 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        20:49815159 (GRCh38)
                        20:48431696 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:49815158:A:C
                        Gene:
                        SLC9A8 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,initiator_codon_variant
                        HGVS:
                        NC_000020.11:g.49815159A>C, NC_000020.10:g.48431696A>C, XM_011528736.3:c.178A>C, XM_011528736.2:c.178A>C, XM_011528736.1:c.178A>C, XM_011528738.3:c.178A>C, XM_011528738.2:c.178A>C, XM_011528738.1:c.178A>C, NM_015266.3:c.178A>C, NM_015266.2:c.178A>C, XM_011528741.3:c.178A>C, XM_011528741.2:c.178A>C, XM_011528741.1:c.178A>C, XM_017027754.3:c.178A>C, XM_017027754.2:c.178A>C, XM_017027754.1:c.178A>C, XM_011528740.3:c.178A>C, XM_011528740.2:c.178A>C, XM_011528740.1:c.178A>C, XM_011528745.3:c.178A>C, XM_011528745.2:c.178A>C, XM_011528745.1:c.178A>C, XM_006723756.2:c.178A>C, XM_006723756.1:c.178A>C, XM_011528737.2:c.178A>C, XM_011528737.1:c.178A>C, NM_001260491.2:c.178A>C, NM_001260491.1:c.178A>C, NR_048537.2:n.273A>C, NR_048537.1:n.388A>C, NR_048538.2:n.273A>C, NR_048538.1:n.388A>C, NR_048539.2:n.273A>C, NR_048539.1:n.388A>C, NR_048540.2:n.273A>C, NR_048540.1:n.388A>C, XM_047440069.1:c.1A>C, XM_047440070.1:c.178A>C, XM_047440071.1:c.178A>C, XM_047440073.1:c.178A>C, XP_011527038.1:p.Met60Leu, XP_011527040.1:p.Met60Leu, NP_056081.1:p.Met60Leu, XP_011527043.1:p.Met60Leu, XP_016883243.1:p.Met60Leu, XP_011527042.1:p.Met60Leu, XP_011527047.1:p.Met60Leu, XP_006723819.1:p.Met60Leu, XP_011527039.1:p.Met60Leu, NP_001247420.1:p.Met60Leu, XP_047296025.1:p.Met1Leu, XP_047296026.1:p.Met60Leu, XP_047296027.1:p.Met60Leu, XP_047296029.1:p.Met60Leu

                        12.

                        rs1472886527 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          20:49887934 (GRCh38)
                          20:48504471 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:49887933:T:G
                          Gene:
                          SLC9A8 (Varview)
                          Functional Consequence:
                          terminator_codon_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_lost
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.49887934T>G, NC_000020.10:g.48504471T>G, XM_011528736.3:c.1891T>G, XM_011528736.2:c.1891T>G, XM_011528736.1:c.1891T>G, XM_011528738.3:c.1774T>G, XM_011528738.2:c.1774T>G, XM_011528738.1:c.1774T>G, NM_015266.3:c.1744T>G, NM_015266.2:c.1744T>G, XM_011528741.3:c.1675T>G, XM_011528741.2:c.1675T>G, XM_011528741.1:c.1675T>G, XM_006723756.2:c.1843T>G, XM_006723756.1:c.1843T>G, XM_011528737.2:c.1807T>G, XM_011528737.1:c.1807T>G, NM_001260491.2:c.1792T>G, NM_001260491.1:c.1792T>G, NR_048537.2:n.1804T>G, NR_048537.1:n.1919T>G, NR_048538.2:n.1720T>G, NR_048538.1:n.1835T>G, NR_048539.2:n.1676T>G, NR_048539.1:n.1791T>G, NR_048540.2:n.1502T>G, NR_048540.1:n.1617T>G, XM_047440069.1:c.1714T>G, XM_047440070.1:c.1660T>G, XM_047440071.1:c.1627T>G, XM_047440072.1:c.1186T>G, XP_011527038.1:p.Ter631Gly, XP_011527040.1:p.Ter592Gly, NP_056081.1:p.Ter582Gly, XP_011527043.1:p.Ter559Gly, XP_006723819.1:p.Ter615Gly, XP_011527039.1:p.Ter603Gly, NP_001247420.1:p.Ter598Gly, XP_047296025.1:p.Ter572Gly, XP_047296026.1:p.Ter554Gly, XP_047296027.1:p.Ter543Gly, XP_047296028.1:p.Ter396Gly

                          13.

                          rs1470450451 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            20:49884024 (GRCh38)
                            20:48500561 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:49884023:C:A
                            Gene:
                            SLC9A8 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000020.11:g.49884024C>A, NC_000020.10:g.48500561C>A, XM_011528736.3:c.1596C>A, XM_011528736.2:c.1596C>A, XM_011528736.1:c.1596C>A, XM_011528738.3:c.1479C>A, XM_011528738.2:c.1479C>A, XM_011528738.1:c.1479C>A, NM_015266.3:c.1449C>A, NM_015266.2:c.1449C>A, XM_011528741.3:c.1380C>A, XM_011528741.2:c.1380C>A, XM_011528741.1:c.1380C>A, XM_017027754.3:c.1596C>A, XM_017027754.2:c.1596C>A, XM_017027754.1:c.1596C>A, XM_011528740.3:c.1596C>A, XM_011528740.2:c.1596C>A, XM_011528740.1:c.1596C>A, XM_006723756.2:c.1548C>A, XM_006723756.1:c.1548C>A, XM_011528737.2:c.1512C>A, XM_011528737.1:c.1512C>A, NM_001260491.2:c.1497C>A, NM_001260491.1:c.1497C>A, NR_048537.2:n.1509C>A, NR_048537.1:n.1624C>A, NR_048538.2:n.1425C>A, NR_048538.1:n.1540C>A, NR_048539.2:n.1381C>A, NR_048539.1:n.1496C>A, NR_048540.2:n.1207C>A, NR_048540.1:n.1322C>A, XM_047440069.1:c.1419C>A, XM_047440070.1:c.1365C>A, XM_047440071.1:c.1332C>A, XM_047440072.1:c.891C>A

                            14.

                            rs1469794989 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              20:49864743 (GRCh38)
                              20:48481280 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:49864742:T:A
                              Gene:
                              SLC9A8 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000020.11:g.49864743T>A, NC_000020.10:g.48481280T>A, XM_011528736.3:c.1004T>A, XM_011528736.2:c.1004T>A, XM_011528736.1:c.1004T>A, XM_011528738.3:c.1004T>A, XM_011528738.2:c.1004T>A, XM_011528738.1:c.1004T>A, NM_015266.3:c.857T>A, NM_015266.2:c.857T>A, XM_011528741.3:c.905T>A, XM_011528741.2:c.905T>A, XM_011528741.1:c.905T>A, XM_017027754.3:c.1004T>A, XM_017027754.2:c.1004T>A, XM_017027754.1:c.1004T>A, XM_011528740.3:c.1004T>A, XM_011528740.2:c.1004T>A, XM_011528740.1:c.1004T>A, XM_006723756.2:c.956T>A, XM_006723756.1:c.956T>A, XM_011528737.2:c.920T>A, XM_011528737.1:c.920T>A, NM_001260491.2:c.905T>A, NM_001260491.1:c.905T>A, NR_048537.2:n.917T>A, NR_048537.1:n.1032T>A, NR_048538.2:n.833T>A, NR_048538.1:n.948T>A, NR_048539.2:n.789T>A, NR_048539.1:n.904T>A, NR_048540.2:n.815T>A, NR_048540.1:n.930T>A, XM_047440069.1:c.827T>A, XM_047440070.1:c.773T>A, XM_047440071.1:c.857T>A, XM_047440072.1:c.299T>A, XP_011527038.1:p.Leu335Gln, XP_011527040.1:p.Leu335Gln, NP_056081.1:p.Leu286Gln, XP_011527043.1:p.Leu302Gln, XP_016883243.1:p.Leu335Gln, XP_011527042.1:p.Leu335Gln, XP_006723819.1:p.Leu319Gln, XP_011527039.1:p.Leu307Gln, NP_001247420.1:p.Leu302Gln, XP_047296025.1:p.Leu276Gln, XP_047296026.1:p.Leu258Gln, XP_047296027.1:p.Leu286Gln, XP_047296028.1:p.Leu100Gln

                              15.

                              rs1469327712 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:49887897 (GRCh38)
                                20:48504434 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:49887896:C:T
                                Gene:
                                SLC9A8 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1468827200 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  20:49849612 (GRCh38)
                                  20:48466149 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:49849611:CT:
                                  Gene:
                                  SLC9A8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000020.11:g.49849612_49849613del, NC_000020.10:g.48466149_48466150del, XM_011528736.3:c.466_467del, XM_011528736.2:c.466_467del, XM_011528736.1:c.466_467del, XM_011528738.3:c.466_467del, XM_011528738.2:c.466_467del, XM_011528738.1:c.466_467del, NM_015266.3:c.466_467del, NM_015266.2:c.466_467del, XM_011528741.3:c.466_467del, XM_011528741.2:c.466_467del, XM_011528741.1:c.466_467del, XM_017027754.3:c.466_467del, XM_017027754.2:c.466_467del, XM_017027754.1:c.466_467del, XM_011528740.3:c.466_467del, XM_011528740.2:c.466_467del, XM_011528740.1:c.466_467del, XM_011528745.3:c.466_467del, XM_011528745.2:c.466_467del, XM_011528745.1:c.466_467del, XM_006723756.2:c.466_467del, XM_006723756.1:c.466_467del, XM_011528737.2:c.382_383del, XM_011528737.1:c.382_383del, NM_001260491.2:c.466_467del, NM_001260491.1:c.466_467del, NR_048537.2:n.561_562del, NR_048537.1:n.676_677del, NR_048538.2:n.477_478del, NR_048538.1:n.592_593del, NR_048539.2:n.561_562del, NR_048539.1:n.676_677del, XM_047440069.1:c.289_290del, XM_047440070.1:c.382_383del, XM_047440071.1:c.466_467del, XM_047440072.1:c.-157_-156del, XM_047440073.1:c.466_467del, XP_011527038.1:p.Leu156fs, XP_011527040.1:p.Leu156fs, NP_056081.1:p.Leu156fs, XP_011527043.1:p.Leu156fs, XP_016883243.1:p.Leu156fs, XP_011527042.1:p.Leu156fs, XP_011527047.1:p.Leu156fs, XP_006723819.1:p.Leu156fs, XP_011527039.1:p.Leu128fs, NP_001247420.1:p.Leu156fs, XP_047296025.1:p.Leu97fs, XP_047296026.1:p.Leu128fs, XP_047296027.1:p.Leu156fs, XP_047296029.1:p.Leu156fs

                                  17.

                                  rs1465624772 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    20:49812929 (GRCh38)
                                    20:48429466 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:49812928:G:A,NC_000020.11:49812928:G:C
                                    Gene:
                                    SLC9A8 (Varview)
                                    Functional Consequence:
                                    missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000020.11:g.49812929G>A, NC_000020.11:g.49812929G>C, NC_000020.10:g.48429466G>A, NC_000020.10:g.48429466G>C, XM_011528736.3:c.7G>A, XM_011528736.3:c.7G>C, XM_011528736.2:c.7G>A, XM_011528736.2:c.7G>C, XM_011528736.1:c.7G>A, XM_011528736.1:c.7G>C, XM_011528738.3:c.7G>A, XM_011528738.3:c.7G>C, XM_011528738.2:c.7G>A, XM_011528738.2:c.7G>C, XM_011528738.1:c.7G>A, XM_011528738.1:c.7G>C, NM_015266.3:c.7G>A, NM_015266.3:c.7G>C, NM_015266.2:c.7G>A, NM_015266.2:c.7G>C, XM_011528741.3:c.7G>A, XM_011528741.3:c.7G>C, XM_011528741.2:c.7G>A, XM_011528741.2:c.7G>C, XM_011528741.1:c.7G>A, XM_011528741.1:c.7G>C, XM_017027754.3:c.7G>A, XM_017027754.3:c.7G>C, XM_017027754.2:c.7G>A, XM_017027754.2:c.7G>C, XM_017027754.1:c.7G>A, XM_017027754.1:c.7G>C, XM_011528740.3:c.7G>A, XM_011528740.3:c.7G>C, XM_011528740.2:c.7G>A, XM_011528740.2:c.7G>C, XM_011528740.1:c.7G>A, XM_011528740.1:c.7G>C, XM_011528745.3:c.7G>A, XM_011528745.3:c.7G>C, XM_011528745.2:c.7G>A, XM_011528745.2:c.7G>C, XM_011528745.1:c.7G>A, XM_011528745.1:c.7G>C, XM_006723756.2:c.7G>A, XM_006723756.2:c.7G>C, XM_006723756.1:c.7G>A, XM_006723756.1:c.7G>C, XM_011528737.2:c.7G>A, XM_011528737.2:c.7G>C, XM_011528737.1:c.7G>A, XM_011528737.1:c.7G>C, NM_001260491.2:c.7G>A, NM_001260491.2:c.7G>C, NM_001260491.1:c.7G>A, NM_001260491.1:c.7G>C, NR_048537.2:n.102G>A, NR_048537.2:n.102G>C, NR_048537.1:n.217G>A, NR_048537.1:n.217G>C, NR_048538.2:n.102G>A, NR_048538.2:n.102G>C, NR_048538.1:n.217G>A, NR_048538.1:n.217G>C, NR_048539.2:n.102G>A, NR_048539.2:n.102G>C, NR_048539.1:n.217G>A, NR_048539.1:n.217G>C, NR_048540.2:n.102G>A, NR_048540.2:n.102G>C, NR_048540.1:n.217G>A, NR_048540.1:n.217G>C, XM_047440070.1:c.7G>A, XM_047440070.1:c.7G>C, XM_047440071.1:c.7G>A, XM_047440071.1:c.7G>C, XM_047440073.1:c.7G>A, XM_047440073.1:c.7G>C, XP_011527038.1:p.Glu3Lys, XP_011527038.1:p.Glu3Gln, XP_011527040.1:p.Glu3Lys, XP_011527040.1:p.Glu3Gln, NP_056081.1:p.Glu3Lys, NP_056081.1:p.Glu3Gln, XP_011527043.1:p.Glu3Lys, XP_011527043.1:p.Glu3Gln, XP_016883243.1:p.Glu3Lys, XP_016883243.1:p.Glu3Gln, XP_011527042.1:p.Glu3Lys, XP_011527042.1:p.Glu3Gln, XP_011527047.1:p.Glu3Lys, XP_011527047.1:p.Glu3Gln, XP_006723819.1:p.Glu3Lys, XP_006723819.1:p.Glu3Gln, XP_011527039.1:p.Glu3Lys, XP_011527039.1:p.Glu3Gln, NP_001247420.1:p.Glu3Lys, NP_001247420.1:p.Glu3Gln, XP_047296026.1:p.Glu3Lys, XP_047296026.1:p.Glu3Gln, XP_047296027.1:p.Glu3Lys, XP_047296027.1:p.Glu3Gln, XP_047296029.1:p.Glu3Lys, XP_047296029.1:p.Glu3Gln

                                    18.

                                    rs1465344329 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:49883991 (GRCh38)
                                      20:48500528 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:49883990:C:T
                                      Gene:
                                      SLC9A8 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000447/2 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000446/2 (Estonian)
                                      HGVS:
                                      NC_000020.11:g.49883991C>T, NC_000020.10:g.48500528C>T, XM_011528736.3:c.1563C>T, XM_011528736.2:c.1563C>T, XM_011528736.1:c.1563C>T, XM_011528738.3:c.1446C>T, XM_011528738.2:c.1446C>T, XM_011528738.1:c.1446C>T, NM_015266.3:c.1416C>T, NM_015266.2:c.1416C>T, XM_011528741.3:c.1347C>T, XM_011528741.2:c.1347C>T, XM_011528741.1:c.1347C>T, XM_017027754.3:c.1563C>T, XM_017027754.2:c.1563C>T, XM_017027754.1:c.1563C>T, XM_011528740.3:c.1563C>T, XM_011528740.2:c.1563C>T, XM_011528740.1:c.1563C>T, XM_006723756.2:c.1515C>T, XM_006723756.1:c.1515C>T, XM_011528737.2:c.1479C>T, XM_011528737.1:c.1479C>T, NM_001260491.2:c.1464C>T, NM_001260491.1:c.1464C>T, NR_048537.2:n.1476C>T, NR_048537.1:n.1591C>T, NR_048538.2:n.1392C>T, NR_048538.1:n.1507C>T, NR_048539.2:n.1348C>T, NR_048539.1:n.1463C>T, NR_048540.2:n.1174C>T, NR_048540.1:n.1289C>T, XM_047440069.1:c.1386C>T, XM_047440070.1:c.1332C>T, XM_047440071.1:c.1299C>T, XM_047440072.1:c.858C>T

                                      19.

                                      rs1464435092 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        20:49815133 (GRCh38)
                                        20:48431670 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:49815132:C:A
                                        Gene:
                                        SLC9A8 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.49815133C>A, NC_000020.10:g.48431670C>A, XM_011528736.3:c.152C>A, XM_011528736.2:c.152C>A, XM_011528736.1:c.152C>A, XM_011528738.3:c.152C>A, XM_011528738.2:c.152C>A, XM_011528738.1:c.152C>A, NM_015266.3:c.152C>A, NM_015266.2:c.152C>A, XM_011528741.3:c.152C>A, XM_011528741.2:c.152C>A, XM_011528741.1:c.152C>A, XM_017027754.3:c.152C>A, XM_017027754.2:c.152C>A, XM_017027754.1:c.152C>A, XM_011528740.3:c.152C>A, XM_011528740.2:c.152C>A, XM_011528740.1:c.152C>A, XM_011528745.3:c.152C>A, XM_011528745.2:c.152C>A, XM_011528745.1:c.152C>A, XM_006723756.2:c.152C>A, XM_006723756.1:c.152C>A, XM_011528737.2:c.152C>A, XM_011528737.1:c.152C>A, NM_001260491.2:c.152C>A, NM_001260491.1:c.152C>A, NR_048537.2:n.247C>A, NR_048537.1:n.362C>A, NR_048538.2:n.247C>A, NR_048538.1:n.362C>A, NR_048539.2:n.247C>A, NR_048539.1:n.362C>A, NR_048540.2:n.247C>A, NR_048540.1:n.362C>A, XM_047440069.1:c.-26C>A, XM_047440070.1:c.152C>A, XM_047440071.1:c.152C>A, XM_047440073.1:c.152C>A, XP_011527038.1:p.Ala51Asp, XP_011527040.1:p.Ala51Asp, NP_056081.1:p.Ala51Asp, XP_011527043.1:p.Ala51Asp, XP_016883243.1:p.Ala51Asp, XP_011527042.1:p.Ala51Asp, XP_011527047.1:p.Ala51Asp, XP_006723819.1:p.Ala51Asp, XP_011527039.1:p.Ala51Asp, NP_001247420.1:p.Ala51Asp, XP_047296026.1:p.Ala51Asp, XP_047296027.1:p.Ala51Asp, XP_047296029.1:p.Ala51Asp

                                        20.

                                        rs1463855674 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:49855521 (GRCh38)
                                          20:48472058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:49855520:T:C
                                          Gene:
                                          SLC9A8 (Varview)
                                          Functional Consequence:
                                          missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000020.11:g.49855521T>C, NC_000020.10:g.48472058T>C, XM_011528736.3:c.701T>C, XM_011528736.2:c.701T>C, XM_011528736.1:c.701T>C, XM_011528738.3:c.701T>C, XM_011528738.2:c.701T>C, XM_011528738.1:c.701T>C, NM_015266.3:c.653T>C, NM_015266.2:c.653T>C, XM_011528741.3:c.701T>C, XM_011528741.2:c.701T>C, XM_011528741.1:c.701T>C, XM_017027754.3:c.701T>C, XM_017027754.2:c.701T>C, XM_017027754.1:c.701T>C, XM_011528740.3:c.701T>C, XM_011528740.2:c.701T>C, XM_011528740.1:c.701T>C, XM_011528745.3:c.701T>C, XM_011528745.2:c.701T>C, XM_011528745.1:c.701T>C, XM_006723756.2:c.653T>C, XM_006723756.1:c.653T>C, XM_011528737.2:c.617T>C, XM_011528737.1:c.617T>C, NM_001260491.2:c.701T>C, NM_001260491.1:c.701T>C, NR_048537.2:n.713T>C, NR_048537.1:n.828T>C, NR_048538.2:n.629T>C, NR_048538.1:n.744T>C, NR_048539.2:n.713T>C, NR_048539.1:n.828T>C, NR_048540.2:n.611T>C, NR_048540.1:n.726T>C, XM_047440069.1:c.524T>C, XM_047440070.1:c.569T>C, XM_047440071.1:c.653T>C, XM_047440072.1:c.-5T>C, XM_047440073.1:c.701T>C, XP_011527038.1:p.Leu234Pro, XP_011527040.1:p.Leu234Pro, NP_056081.1:p.Leu218Pro, XP_011527043.1:p.Leu234Pro, XP_016883243.1:p.Leu234Pro, XP_011527042.1:p.Leu234Pro, XP_011527047.1:p.Leu234Pro, XP_006723819.1:p.Leu218Pro, XP_011527039.1:p.Leu206Pro, NP_001247420.1:p.Leu234Pro, XP_047296025.1:p.Leu175Pro, XP_047296026.1:p.Leu190Pro, XP_047296027.1:p.Leu218Pro, XP_047296029.1:p.Leu234Pro

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