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Items: 1 to 20 of 446

1.

rs1490658838 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    2:32171353 (GRCh38)
    2:32396422 (GRCh37)
    Canonical SPDI:
    NC_000002.12:32171352:C:G
    Gene:
    SLC30A6 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.32171353C>G, NC_000002.11:g.32396422C>G, NM_017964.5:c.70C>G, NM_017964.4:c.70C>G, NM_017964.3:c.70C>G, XM_011532963.4:c.70C>G, XM_011532963.3:c.70C>G, XM_011532963.2:c.70C>G, XM_011532963.1:c.70C>G, XM_011532962.4:c.-25C>G, XM_011532962.3:c.-25C>G, XM_011532962.2:c.-25C>G, XM_011532962.1:c.-25C>G, XM_011532959.4:c.70C>G, XM_011532959.3:c.70C>G, XM_011532959.2:c.70C>G, XM_011532959.1:c.70C>G, NM_001193513.3:c.70C>G, NM_001193513.2:c.70C>G, NM_001193513.1:c.70C>G, NM_001193514.3:c.70C>G, NM_001193514.2:c.70C>G, NM_001193514.1:c.70C>G, XM_017004465.3:c.70C>G, XM_017004465.2:c.70C>G, XM_017004465.1:c.70C>G, XM_017004464.3:c.70C>G, XM_017004464.2:c.70C>G, XM_017004464.1:c.70C>G, XM_017004466.3:c.70C>G, XM_017004466.2:c.70C>G, XM_017004466.1:c.70C>G, NM_001330479.2:c.-78C>G, NM_001330479.1:c.-78C>G, NM_001330477.2:c.-505C>G, NM_001330477.1:c.-505C>G, NM_001330478.2:c.-279C>G, NM_001330478.1:c.-279C>G, XM_047444944.1:c.-78C>G, XM_047444946.1:c.70C>G, XM_047444947.1:c.70C>G, NP_060434.2:p.Leu24Val, XP_011531265.1:p.Leu24Val, XP_011531261.1:p.Leu24Val, NP_001180442.1:p.Leu24Val, NP_001180443.1:p.Leu24Val, XP_016859954.1:p.Leu24Val, XP_016859953.1:p.Leu24Val, XP_016859955.1:p.Leu24Val, XP_047300902.1:p.Leu24Val, XP_047300903.1:p.Leu24Val

    2.

    rs1487972077 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      2:32220347 (GRCh38)
      2:32445416 (GRCh37)
      Canonical SPDI:
      NC_000002.12:32220346:C:G
      Gene:
      SLC30A6 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000002.12:g.32220347C>G, NC_000002.11:g.32445416C>G, NM_017964.5:c.1020C>G, NM_017964.4:c.1020C>G, NM_017964.3:c.1020C>G, XM_011532963.4:c.*116C>G, XM_011532963.3:c.*116C>G, XM_011532962.4:c.798C>G, XM_011532962.3:c.798C>G, XM_011532962.2:c.798C>G, XM_011532962.1:c.798C>G, XM_011532959.4:c.1071C>G, XM_011532959.3:c.1071C>G, XM_011532959.2:c.1071C>G, XM_011532959.1:c.1071C>G, NM_001193513.3:c.1140C>G, NM_001193513.2:c.1140C>G, NM_001193513.1:c.1140C>G, NM_001193514.3:c.951C>G, NM_001193514.2:c.951C>G, NM_001193514.1:c.951C>G, NM_001193515.3:c.933C>G, NM_001193515.2:c.933C>G, NM_001193515.1:c.933C>G, XM_017004465.3:c.*116C>G, XM_017004465.2:c.*116C>G, NM_001330479.2:c.873C>G, NM_001330479.1:c.873C>G, NM_001330477.2:c.429C>G, NM_001330477.1:c.429C>G, NM_001330476.2:c.798C>G, NM_001330476.1:c.798C>G, NM_001330478.2:c.429C>G, NM_001330478.1:c.429C>G, XM_047444944.1:c.993C>G, XM_047444946.1:c.*116C>G, XM_047444945.1:c.798C>G, XM_047444947.1:c.*116C>G

      3.

      rs1485590228 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:32220630 (GRCh38)
        2:32445699 (GRCh37)
        Canonical SPDI:
        NC_000002.12:32220629:G:A
        Gene:
        SLC30A6 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.32220630G>A, NC_000002.11:g.32445699G>A, NM_017964.5:c.1303G>A, NM_017964.4:c.1303G>A, NM_017964.3:c.1303G>A, XM_011532963.4:c.*399G>A, XM_011532963.3:c.*399G>A, XM_011532962.4:c.1081G>A, XM_011532962.3:c.1081G>A, XM_011532962.2:c.1081G>A, XM_011532962.1:c.1081G>A, XM_011532959.4:c.1354G>A, XM_011532959.3:c.1354G>A, XM_011532959.2:c.1354G>A, XM_011532959.1:c.1354G>A, NM_001193513.3:c.1423G>A, NM_001193513.2:c.1423G>A, NM_001193513.1:c.1423G>A, NM_001193514.3:c.1234G>A, NM_001193514.2:c.1234G>A, NM_001193514.1:c.1234G>A, NM_001193515.3:c.1216G>A, NM_001193515.2:c.1216G>A, NM_001193515.1:c.1216G>A, XM_017004465.3:c.*399G>A, XM_017004465.2:c.*399G>A, NM_001330479.2:c.1156G>A, NM_001330479.1:c.1156G>A, NM_001330477.2:c.712G>A, NM_001330477.1:c.712G>A, NM_001330476.2:c.1081G>A, NM_001330476.1:c.1081G>A, NM_001330478.2:c.712G>A, NM_001330478.1:c.712G>A, XM_047444944.1:c.1276G>A, XM_047444946.1:c.*399G>A, XM_047444945.1:c.1081G>A, XM_047444947.1:c.*399G>A, NP_060434.2:p.Ala435Thr, XP_011531264.1:p.Ala361Thr, XP_011531261.1:p.Ala452Thr, NP_001180442.1:p.Ala475Thr, NP_001180443.1:p.Ala412Thr, NP_001180444.1:p.Ala406Thr, NP_001317408.1:p.Ala386Thr, NP_001317406.1:p.Ala238Thr, NP_001317405.1:p.Ala361Thr, NP_001317407.1:p.Ala238Thr, XP_047300900.1:p.Ala426Thr, XP_047300901.1:p.Ala361Thr

        4.

        rs1484691706 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:32175358 (GRCh38)
          2:32400427 (GRCh37)
          Canonical SPDI:
          NC_000002.12:32175357:T:C
          Gene:
          SLC30A6 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.32175358T>C, NC_000002.11:g.32400427T>C, NM_017964.5:c.215T>C, NM_017964.4:c.215T>C, NM_017964.3:c.215T>C, XM_011532963.4:c.215T>C, XM_011532963.3:c.215T>C, XM_011532963.2:c.215T>C, XM_011532963.1:c.215T>C, XM_011532959.4:c.215T>C, XM_011532959.3:c.215T>C, XM_011532959.2:c.215T>C, XM_011532959.1:c.215T>C, NM_001193513.3:c.215T>C, NM_001193513.2:c.215T>C, NM_001193513.1:c.215T>C, NM_001193514.3:c.215T>C, NM_001193514.2:c.215T>C, NM_001193514.1:c.215T>C, NM_001193515.3:c.128T>C, NM_001193515.2:c.128T>C, NM_001193515.1:c.128T>C, XM_017004465.3:c.215T>C, XM_017004465.2:c.215T>C, XM_017004465.1:c.215T>C, XM_017004464.3:c.215T>C, XM_017004464.2:c.215T>C, XM_017004464.1:c.215T>C, XM_017004466.3:c.215T>C, XM_017004466.2:c.215T>C, XM_017004466.1:c.215T>C, NM_001330479.2:c.68T>C, NM_001330479.1:c.68T>C, XM_047444944.1:c.68T>C, XM_047444946.1:c.215T>C, XM_047444947.1:c.215T>C, NP_060434.2:p.Phe72Ser, XP_011531265.1:p.Phe72Ser, XP_011531261.1:p.Phe72Ser, NP_001180442.1:p.Phe72Ser, NP_001180443.1:p.Phe72Ser, NP_001180444.1:p.Phe43Ser, XP_016859954.1:p.Phe72Ser, XP_016859953.1:p.Phe72Ser, XP_016859955.1:p.Phe72Ser, NP_001317408.1:p.Phe23Ser, XP_047300900.1:p.Phe23Ser, XP_047300902.1:p.Phe72Ser, XP_047300903.1:p.Phe72Ser

          5.

          rs1484399041 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:32193918 (GRCh38)
            2:32418987 (GRCh37)
            Canonical SPDI:
            NC_000002.12:32193917:C:T
            Gene:
            SLC30A6 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.32193918C>T, NC_000002.11:g.32418987C>T, NM_017964.5:c.431C>T, NM_017964.4:c.431C>T, NM_017964.3:c.431C>T, XM_011532963.4:c.551C>T, XM_011532963.3:c.551C>T, XM_011532963.2:c.551C>T, XM_011532963.1:c.551C>T, XM_011532962.4:c.209C>T, XM_011532962.3:c.209C>T, XM_011532962.2:c.209C>T, XM_011532962.1:c.209C>T, XM_011532959.4:c.551C>T, XM_011532959.3:c.551C>T, XM_011532959.2:c.551C>T, XM_011532959.1:c.551C>T, NM_001193513.3:c.551C>T, NM_001193513.2:c.551C>T, NM_001193513.1:c.551C>T, NM_001193514.3:c.431C>T, NM_001193514.2:c.431C>T, NM_001193514.1:c.431C>T, NM_001193515.3:c.344C>T, NM_001193515.2:c.344C>T, NM_001193515.1:c.344C>T, XM_017004465.3:c.551C>T, XM_017004465.2:c.551C>T, XM_017004465.1:c.551C>T, XM_017004464.3:c.551C>T, XM_017004464.2:c.551C>T, XM_017004464.1:c.551C>T, XM_017004466.3:c.431C>T, XM_017004466.2:c.431C>T, XM_017004466.1:c.431C>T, NM_001330479.2:c.284C>T, NM_001330479.1:c.284C>T, NM_001330477.2:c.-187C>T, NM_001330477.1:c.-187C>T, NM_001330476.2:c.209C>T, NM_001330476.1:c.209C>T, NM_001330478.2:c.-112C>T, NM_001330478.1:c.-112C>T, XM_047444944.1:c.404C>T, XM_047444946.1:c.431C>T, XM_047444945.1:c.209C>T, XM_047444947.1:c.431C>T, NP_060434.2:p.Ala144Val, XP_011531265.1:p.Ala184Val, XP_011531264.1:p.Ala70Val, XP_011531261.1:p.Ala184Val, NP_001180442.1:p.Ala184Val, NP_001180443.1:p.Ala144Val, NP_001180444.1:p.Ala115Val, XP_016859954.1:p.Ala184Val, XP_016859953.1:p.Ala184Val, XP_016859955.1:p.Ala144Val, NP_001317408.1:p.Ala95Val, NP_001317405.1:p.Ala70Val, XP_047300900.1:p.Ala135Val, XP_047300902.1:p.Ala144Val, XP_047300901.1:p.Ala70Val, XP_047300903.1:p.Ala144Val

            6.

            rs1479284919 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:32220285 (GRCh38)
              2:32445354 (GRCh37)
              Canonical SPDI:
              NC_000002.12:32220284:C:T
              Gene:
              SLC30A6 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.32220285C>T, NC_000002.11:g.32445354C>T, NM_017964.5:c.958C>T, NM_017964.4:c.958C>T, NM_017964.3:c.958C>T, XM_011532963.4:c.*54C>T, XM_011532963.3:c.*54C>T, XM_011532963.2:c.*54C>T, XM_011532963.1:c.*54C>T, XM_011532962.4:c.736C>T, XM_011532962.3:c.736C>T, XM_011532962.2:c.736C>T, XM_011532962.1:c.736C>T, XM_011532959.4:c.1009C>T, XM_011532959.3:c.1009C>T, XM_011532959.2:c.1009C>T, XM_011532959.1:c.1009C>T, NM_001193513.3:c.1078C>T, NM_001193513.2:c.1078C>T, NM_001193513.1:c.1078C>T, NM_001193514.3:c.889C>T, NM_001193514.2:c.889C>T, NM_001193514.1:c.889C>T, NM_001193515.3:c.871C>T, NM_001193515.2:c.871C>T, NM_001193515.1:c.871C>T, XM_017004465.3:c.*54C>T, XM_017004465.2:c.*54C>T, XM_017004465.1:c.*54C>T, NM_001330479.2:c.811C>T, NM_001330479.1:c.811C>T, NM_001330477.2:c.367C>T, NM_001330477.1:c.367C>T, NM_001330476.2:c.736C>T, NM_001330476.1:c.736C>T, NM_001330478.2:c.367C>T, NM_001330478.1:c.367C>T, XM_047444944.1:c.931C>T, XM_047444946.1:c.*54C>T, XM_047444945.1:c.736C>T, XM_047444947.1:c.*54C>T

              7.

              rs1478404110 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:32171337 (GRCh38)
                2:32396406 (GRCh37)
                Canonical SPDI:
                NC_000002.12:32171336:G:A
                Gene:
                SLC30A6 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.32171337G>A, NC_000002.11:g.32396406G>A, NM_017964.5:c.54G>A, NM_017964.4:c.54G>A, NM_017964.3:c.54G>A, XM_011532963.4:c.54G>A, XM_011532963.3:c.54G>A, XM_011532963.2:c.54G>A, XM_011532963.1:c.54G>A, XM_011532962.4:c.-41G>A, XM_011532962.3:c.-41G>A, XM_011532962.2:c.-41G>A, XM_011532962.1:c.-41G>A, XM_011532959.4:c.54G>A, XM_011532959.3:c.54G>A, XM_011532959.2:c.54G>A, XM_011532959.1:c.54G>A, NM_001193513.3:c.54G>A, NM_001193513.2:c.54G>A, NM_001193513.1:c.54G>A, NM_001193514.3:c.54G>A, NM_001193514.2:c.54G>A, NM_001193514.1:c.54G>A, XM_017004465.3:c.54G>A, XM_017004465.2:c.54G>A, XM_017004465.1:c.54G>A, XM_017004464.3:c.54G>A, XM_017004464.2:c.54G>A, XM_017004464.1:c.54G>A, XM_017004466.3:c.54G>A, XM_017004466.2:c.54G>A, XM_017004466.1:c.54G>A, NM_001330479.2:c.-94G>A, NM_001330479.1:c.-94G>A, NM_001330477.2:c.-521G>A, NM_001330477.1:c.-521G>A, NM_001330478.2:c.-295G>A, NM_001330478.1:c.-295G>A, XM_047444944.1:c.-94G>A, XM_047444946.1:c.54G>A, XM_047444947.1:c.54G>A

                8.

                rs1478115820 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  2:32193969 (GRCh38)
                  2:32419038 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:32193968:C:G,NC_000002.12:32193968:C:T
                  Gene:
                  SLC30A6 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000002.12:g.32193969C>G, NC_000002.12:g.32193969C>T, NC_000002.11:g.32419038C>G, NC_000002.11:g.32419038C>T, NM_017964.5:c.482C>G, NM_017964.5:c.482C>T, NM_017964.4:c.482C>G, NM_017964.4:c.482C>T, NM_017964.3:c.482C>G, NM_017964.3:c.482C>T, XM_011532963.4:c.602C>G, XM_011532963.4:c.602C>T, XM_011532963.3:c.602C>G, XM_011532963.3:c.602C>T, XM_011532963.2:c.602C>G, XM_011532963.2:c.602C>T, XM_011532963.1:c.602C>G, XM_011532963.1:c.602C>T, XM_011532962.4:c.260C>G, XM_011532962.4:c.260C>T, XM_011532962.3:c.260C>G, XM_011532962.3:c.260C>T, XM_011532962.2:c.260C>G, XM_011532962.2:c.260C>T, XM_011532962.1:c.260C>G, XM_011532962.1:c.260C>T, XM_011532959.4:c.602C>G, XM_011532959.4:c.602C>T, XM_011532959.3:c.602C>G, XM_011532959.3:c.602C>T, XM_011532959.2:c.602C>G, XM_011532959.2:c.602C>T, XM_011532959.1:c.602C>G, XM_011532959.1:c.602C>T, NM_001193513.3:c.602C>G, NM_001193513.3:c.602C>T, NM_001193513.2:c.602C>G, NM_001193513.2:c.602C>T, NM_001193513.1:c.602C>G, NM_001193513.1:c.602C>T, NM_001193514.3:c.482C>G, NM_001193514.3:c.482C>T, NM_001193514.2:c.482C>G, NM_001193514.2:c.482C>T, NM_001193514.1:c.482C>G, NM_001193514.1:c.482C>T, NM_001193515.3:c.395C>G, NM_001193515.3:c.395C>T, NM_001193515.2:c.395C>G, NM_001193515.2:c.395C>T, NM_001193515.1:c.395C>G, NM_001193515.1:c.395C>T, XM_017004465.3:c.602C>G, XM_017004465.3:c.602C>T, XM_017004465.2:c.602C>G, XM_017004465.2:c.602C>T, XM_017004465.1:c.602C>G, XM_017004465.1:c.602C>T, XM_017004464.3:c.602C>G, XM_017004464.3:c.602C>T, XM_017004464.2:c.602C>G, XM_017004464.2:c.602C>T, XM_017004464.1:c.602C>G, XM_017004464.1:c.602C>T, XM_017004466.3:c.482C>G, XM_017004466.3:c.482C>T, XM_017004466.2:c.482C>G, XM_017004466.2:c.482C>T, XM_017004466.1:c.482C>G, XM_017004466.1:c.482C>T, NM_001330479.2:c.335C>G, NM_001330479.2:c.335C>T, NM_001330479.1:c.335C>G, NM_001330479.1:c.335C>T, NM_001330477.2:c.-136C>G, NM_001330477.2:c.-136C>T, NM_001330477.1:c.-136C>G, NM_001330477.1:c.-136C>T, NM_001330476.2:c.260C>G, NM_001330476.2:c.260C>T, NM_001330476.1:c.260C>G, NM_001330476.1:c.260C>T, NM_001330478.2:c.-61C>G, NM_001330478.2:c.-61C>T, NM_001330478.1:c.-61C>G, NM_001330478.1:c.-61C>T, XM_047444944.1:c.455C>G, XM_047444944.1:c.455C>T, XM_047444946.1:c.482C>G, XM_047444946.1:c.482C>T, XM_047444945.1:c.260C>G, XM_047444945.1:c.260C>T, XM_047444947.1:c.482C>G, XM_047444947.1:c.482C>T, NP_060434.2:p.Ala161Gly, NP_060434.2:p.Ala161Val, XP_011531265.1:p.Ala201Gly, XP_011531265.1:p.Ala201Val, XP_011531264.1:p.Ala87Gly, XP_011531264.1:p.Ala87Val, XP_011531261.1:p.Ala201Gly, XP_011531261.1:p.Ala201Val, NP_001180442.1:p.Ala201Gly, NP_001180442.1:p.Ala201Val, NP_001180443.1:p.Ala161Gly, NP_001180443.1:p.Ala161Val, NP_001180444.1:p.Ala132Gly, NP_001180444.1:p.Ala132Val, XP_016859954.1:p.Ala201Gly, XP_016859954.1:p.Ala201Val, XP_016859953.1:p.Ala201Gly, XP_016859953.1:p.Ala201Val, XP_016859955.1:p.Ala161Gly, XP_016859955.1:p.Ala161Val, NP_001317408.1:p.Ala112Gly, NP_001317408.1:p.Ala112Val, NP_001317405.1:p.Ala87Gly, NP_001317405.1:p.Ala87Val, XP_047300900.1:p.Ala152Gly, XP_047300900.1:p.Ala152Val, XP_047300902.1:p.Ala161Gly, XP_047300902.1:p.Ala161Val, XP_047300901.1:p.Ala87Gly, XP_047300901.1:p.Ala87Val, XP_047300903.1:p.Ala161Gly, XP_047300903.1:p.Ala161Val

                  9.

                  rs1470068955 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:32197778 (GRCh38)
                    2:32422847 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:32197777:T:A
                    Gene:
                    SLC30A6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.32197778T>A, NC_000002.11:g.32422847T>A, NM_017964.5:c.617T>A, NM_017964.4:c.617T>A, NM_017964.3:c.617T>A, XM_011532963.4:c.737T>A, XM_011532963.3:c.737T>A, XM_011532963.2:c.737T>A, XM_011532963.1:c.737T>A, XM_011532962.4:c.395T>A, XM_011532962.3:c.395T>A, XM_011532962.2:c.395T>A, XM_011532962.1:c.395T>A, XM_011532959.4:c.737T>A, XM_011532959.3:c.737T>A, XM_011532959.2:c.737T>A, XM_011532959.1:c.737T>A, NM_001193513.3:c.737T>A, NM_001193513.2:c.737T>A, NM_001193513.1:c.737T>A, NM_001193514.3:c.617T>A, NM_001193514.2:c.617T>A, NM_001193514.1:c.617T>A, NM_001193515.3:c.530T>A, NM_001193515.2:c.530T>A, NM_001193515.1:c.530T>A, XM_017004465.3:c.737T>A, XM_017004465.2:c.737T>A, XM_017004465.1:c.737T>A, XM_017004464.3:c.737T>A, XM_017004464.2:c.737T>A, XM_017004464.1:c.737T>A, XM_017004466.3:c.617T>A, XM_017004466.2:c.617T>A, XM_017004466.1:c.617T>A, NM_001330479.2:c.470T>A, NM_001330479.1:c.470T>A, NM_001330477.2:c.26T>A, NM_001330477.1:c.26T>A, NM_001330476.2:c.395T>A, NM_001330476.1:c.395T>A, NM_001330478.2:c.26T>A, NM_001330478.1:c.26T>A, XM_047444944.1:c.590T>A, XM_047444946.1:c.617T>A, XM_047444945.1:c.395T>A, XM_047444947.1:c.617T>A, NP_060434.2:p.Leu206His, XP_011531265.1:p.Leu246His, XP_011531264.1:p.Leu132His, XP_011531261.1:p.Leu246His, NP_001180442.1:p.Leu246His, NP_001180443.1:p.Leu206His, NP_001180444.1:p.Leu177His, XP_016859954.1:p.Leu246His, XP_016859953.1:p.Leu246His, XP_016859955.1:p.Leu206His, NP_001317408.1:p.Leu157His, NP_001317406.1:p.Leu9His, NP_001317405.1:p.Leu132His, NP_001317407.1:p.Leu9His, XP_047300900.1:p.Leu197His, XP_047300902.1:p.Leu206His, XP_047300901.1:p.Leu132His, XP_047300903.1:p.Leu206His

                    10.

                    rs1467873589 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      2:32197798 (GRCh38)
                      2:32422868 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:32197798:G:GG
                      Gene:
                      SLC30A6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.32197799dup, NC_000002.11:g.32422868dup, NM_017964.5:c.638dup, NM_017964.4:c.638dup, NM_017964.3:c.638dup, XM_011532963.4:c.758dup, XM_011532963.3:c.758dup, XM_011532963.2:c.758dup, XM_011532963.1:c.758dup, XM_011532962.4:c.416dup, XM_011532962.3:c.416dup, XM_011532962.2:c.416dup, XM_011532962.1:c.416dup, XM_011532959.4:c.758dup, XM_011532959.3:c.758dup, XM_011532959.2:c.758dup, XM_011532959.1:c.758dup, NM_001193513.3:c.758dup, NM_001193513.2:c.758dup, NM_001193513.1:c.758dup, NM_001193514.3:c.638dup, NM_001193514.2:c.638dup, NM_001193514.1:c.638dup, NM_001193515.3:c.551dup, NM_001193515.2:c.551dup, NM_001193515.1:c.551dup, XM_017004465.3:c.758dup, XM_017004465.2:c.758dup, XM_017004465.1:c.758dup, XM_017004464.3:c.758dup, XM_017004464.2:c.758dup, XM_017004464.1:c.758dup, XM_017004466.3:c.638dup, XM_017004466.2:c.638dup, XM_017004466.1:c.638dup, NM_001330479.2:c.491dup, NM_001330479.1:c.491dup, NM_001330477.2:c.47dup, NM_001330477.1:c.47dup, NM_001330476.2:c.416dup, NM_001330476.1:c.416dup, NM_001330478.2:c.47dup, NM_001330478.1:c.47dup, XM_047444944.1:c.611dup, XM_047444946.1:c.638dup, XM_047444945.1:c.416dup, XM_047444947.1:c.638dup, NP_060434.2:p.Cys213fs, XP_011531265.1:p.Cys253fs, XP_011531264.1:p.Cys139fs, XP_011531261.1:p.Cys253fs, NP_001180442.1:p.Cys253fs, NP_001180443.1:p.Cys213fs, NP_001180444.1:p.Cys184fs, XP_016859954.1:p.Cys253fs, XP_016859953.1:p.Cys253fs, XP_016859955.1:p.Cys213fs, NP_001317408.1:p.Cys164fs, NP_001317406.1:p.Cys16fs, NP_001317405.1:p.Cys139fs, NP_001317407.1:p.Cys16fs, XP_047300900.1:p.Cys204fs, XP_047300902.1:p.Cys213fs, XP_047300901.1:p.Cys139fs, XP_047300903.1:p.Cys213fs

                      11.

                      rs1466471773 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:32220568 (GRCh38)
                        2:32445637 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:32220567:A:G
                        Gene:
                        SLC30A6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000016/4 (GnomAD_exomes)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000002.12:g.32220568A>G, NC_000002.11:g.32445637A>G, NM_017964.5:c.1241A>G, NM_017964.4:c.1241A>G, NM_017964.3:c.1241A>G, XM_011532963.4:c.*337A>G, XM_011532963.3:c.*337A>G, XM_011532962.4:c.1019A>G, XM_011532962.3:c.1019A>G, XM_011532962.2:c.1019A>G, XM_011532962.1:c.1019A>G, XM_011532959.4:c.1292A>G, XM_011532959.3:c.1292A>G, XM_011532959.2:c.1292A>G, XM_011532959.1:c.1292A>G, NM_001193513.3:c.1361A>G, NM_001193513.2:c.1361A>G, NM_001193513.1:c.1361A>G, NM_001193514.3:c.1172A>G, NM_001193514.2:c.1172A>G, NM_001193514.1:c.1172A>G, NM_001193515.3:c.1154A>G, NM_001193515.2:c.1154A>G, NM_001193515.1:c.1154A>G, XM_017004465.3:c.*337A>G, XM_017004465.2:c.*337A>G, NM_001330479.2:c.1094A>G, NM_001330479.1:c.1094A>G, NM_001330477.2:c.650A>G, NM_001330477.1:c.650A>G, NM_001330476.2:c.1019A>G, NM_001330476.1:c.1019A>G, NM_001330478.2:c.650A>G, NM_001330478.1:c.650A>G, XM_047444944.1:c.1214A>G, XM_047444946.1:c.*337A>G, XM_047444945.1:c.1019A>G, XM_047444947.1:c.*337A>G, NP_060434.2:p.Asn414Ser, XP_011531264.1:p.Asn340Ser, XP_011531261.1:p.Asn431Ser, NP_001180442.1:p.Asn454Ser, NP_001180443.1:p.Asn391Ser, NP_001180444.1:p.Asn385Ser, NP_001317408.1:p.Asn365Ser, NP_001317406.1:p.Asn217Ser, NP_001317405.1:p.Asn340Ser, NP_001317407.1:p.Asn217Ser, XP_047300900.1:p.Asn405Ser, XP_047300901.1:p.Asn340Ser

                        12.

                        rs1466091203 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:32175350 (GRCh38)
                          2:32400419 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:32175349:T:C
                          Gene:
                          SLC30A6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.0001/1 (ALFA)
                          HGVS:
                          NC_000002.12:g.32175350T>C, NC_000002.11:g.32400419T>C, NM_017964.5:c.207T>C, NM_017964.4:c.207T>C, NM_017964.3:c.207T>C, XM_011532963.4:c.207T>C, XM_011532963.3:c.207T>C, XM_011532963.2:c.207T>C, XM_011532963.1:c.207T>C, XM_011532959.4:c.207T>C, XM_011532959.3:c.207T>C, XM_011532959.2:c.207T>C, XM_011532959.1:c.207T>C, NM_001193513.3:c.207T>C, NM_001193513.2:c.207T>C, NM_001193513.1:c.207T>C, NM_001193514.3:c.207T>C, NM_001193514.2:c.207T>C, NM_001193514.1:c.207T>C, NM_001193515.3:c.120T>C, NM_001193515.2:c.120T>C, NM_001193515.1:c.120T>C, XM_017004465.3:c.207T>C, XM_017004465.2:c.207T>C, XM_017004465.1:c.207T>C, XM_017004464.3:c.207T>C, XM_017004464.2:c.207T>C, XM_017004464.1:c.207T>C, XM_017004466.3:c.207T>C, XM_017004466.2:c.207T>C, XM_017004466.1:c.207T>C, NM_001330479.2:c.60T>C, NM_001330479.1:c.60T>C, XM_047444944.1:c.60T>C, XM_047444946.1:c.207T>C, XM_047444947.1:c.207T>C

                          13.

                          rs1464966383 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            2:32192392 (GRCh38)
                            2:32417461 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:32192391:G:A,NC_000002.12:32192391:G:C
                            Gene:
                            SLC30A6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000002.12:g.32192392G>A, NC_000002.12:g.32192392G>C, NC_000002.11:g.32417461G>A, NC_000002.11:g.32417461G>C, NM_017964.5:c.341G>A, NM_017964.5:c.341G>C, NM_017964.4:c.341G>A, NM_017964.4:c.341G>C, NM_017964.3:c.341G>A, NM_017964.3:c.341G>C, XM_011532963.4:c.461G>A, XM_011532963.4:c.461G>C, XM_011532963.3:c.461G>A, XM_011532963.3:c.461G>C, XM_011532963.2:c.461G>A, XM_011532963.2:c.461G>C, XM_011532963.1:c.461G>A, XM_011532963.1:c.461G>C, XM_011532962.4:c.119G>A, XM_011532962.4:c.119G>C, XM_011532962.3:c.119G>A, XM_011532962.3:c.119G>C, XM_011532962.2:c.119G>A, XM_011532962.2:c.119G>C, XM_011532962.1:c.119G>A, XM_011532962.1:c.119G>C, XM_011532959.4:c.461G>A, XM_011532959.4:c.461G>C, XM_011532959.3:c.461G>A, XM_011532959.3:c.461G>C, XM_011532959.2:c.461G>A, XM_011532959.2:c.461G>C, XM_011532959.1:c.461G>A, XM_011532959.1:c.461G>C, NM_001193513.3:c.461G>A, NM_001193513.3:c.461G>C, NM_001193513.2:c.461G>A, NM_001193513.2:c.461G>C, NM_001193513.1:c.461G>A, NM_001193513.1:c.461G>C, NM_001193514.3:c.341G>A, NM_001193514.3:c.341G>C, NM_001193514.2:c.341G>A, NM_001193514.2:c.341G>C, NM_001193514.1:c.341G>A, NM_001193514.1:c.341G>C, NM_001193515.3:c.254G>A, NM_001193515.3:c.254G>C, NM_001193515.2:c.254G>A, NM_001193515.2:c.254G>C, NM_001193515.1:c.254G>A, NM_001193515.1:c.254G>C, XM_017004465.3:c.461G>A, XM_017004465.3:c.461G>C, XM_017004465.2:c.461G>A, XM_017004465.2:c.461G>C, XM_017004465.1:c.461G>A, XM_017004465.1:c.461G>C, XM_017004464.3:c.461G>A, XM_017004464.3:c.461G>C, XM_017004464.2:c.461G>A, XM_017004464.2:c.461G>C, XM_017004464.1:c.461G>A, XM_017004464.1:c.461G>C, XM_017004466.3:c.341G>A, XM_017004466.3:c.341G>C, XM_017004466.2:c.341G>A, XM_017004466.2:c.341G>C, XM_017004466.1:c.341G>A, XM_017004466.1:c.341G>C, NM_001330479.2:c.194G>A, NM_001330479.2:c.194G>C, NM_001330479.1:c.194G>A, NM_001330479.1:c.194G>C, NM_001330477.2:c.-277G>A, NM_001330477.2:c.-277G>C, NM_001330477.1:c.-277G>A, NM_001330477.1:c.-277G>C, NM_001330476.2:c.119G>A, NM_001330476.2:c.119G>C, NM_001330476.1:c.119G>A, NM_001330476.1:c.119G>C, NM_001330478.2:c.-202G>A, NM_001330478.2:c.-202G>C, NM_001330478.1:c.-202G>A, NM_001330478.1:c.-202G>C, XM_047444944.1:c.314G>A, XM_047444944.1:c.314G>C, XM_047444946.1:c.341G>A, XM_047444946.1:c.341G>C, XM_047444945.1:c.119G>A, XM_047444945.1:c.119G>C, XM_047444947.1:c.341G>A, XM_047444947.1:c.341G>C, NP_060434.2:p.Gly114Glu, NP_060434.2:p.Gly114Ala, XP_011531265.1:p.Gly154Glu, XP_011531265.1:p.Gly154Ala, XP_011531264.1:p.Gly40Glu, XP_011531264.1:p.Gly40Ala, XP_011531261.1:p.Gly154Glu, XP_011531261.1:p.Gly154Ala, NP_001180442.1:p.Gly154Glu, NP_001180442.1:p.Gly154Ala, NP_001180443.1:p.Gly114Glu, NP_001180443.1:p.Gly114Ala, NP_001180444.1:p.Gly85Glu, NP_001180444.1:p.Gly85Ala, XP_016859954.1:p.Gly154Glu, XP_016859954.1:p.Gly154Ala, XP_016859953.1:p.Gly154Glu, XP_016859953.1:p.Gly154Ala, XP_016859955.1:p.Gly114Glu, XP_016859955.1:p.Gly114Ala, NP_001317408.1:p.Gly65Glu, NP_001317408.1:p.Gly65Ala, NP_001317405.1:p.Gly40Glu, NP_001317405.1:p.Gly40Ala, XP_047300900.1:p.Gly105Glu, XP_047300900.1:p.Gly105Ala, XP_047300902.1:p.Gly114Glu, XP_047300902.1:p.Gly114Ala, XP_047300901.1:p.Gly40Glu, XP_047300901.1:p.Gly40Ala, XP_047300903.1:p.Gly114Glu, XP_047300903.1:p.Gly114Ala

                            14.

                            rs1459696252 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              2:32192352 (GRCh38)
                              2:32417421 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:32192351:G:T
                              Gene:
                              SLC30A6 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.32192352G>T, NC_000002.11:g.32417421G>T, NM_017964.5:c.301G>T, NM_017964.4:c.301G>T, NM_017964.3:c.301G>T, XM_011532963.4:c.421G>T, XM_011532963.3:c.421G>T, XM_011532963.2:c.421G>T, XM_011532963.1:c.421G>T, XM_011532962.4:c.79G>T, XM_011532962.3:c.79G>T, XM_011532962.2:c.79G>T, XM_011532962.1:c.79G>T, XM_011532959.4:c.421G>T, XM_011532959.3:c.421G>T, XM_011532959.2:c.421G>T, XM_011532959.1:c.421G>T, NM_001193513.3:c.421G>T, NM_001193513.2:c.421G>T, NM_001193513.1:c.421G>T, NM_001193514.3:c.301G>T, NM_001193514.2:c.301G>T, NM_001193514.1:c.301G>T, NM_001193515.3:c.214G>T, NM_001193515.2:c.214G>T, NM_001193515.1:c.214G>T, XM_017004465.3:c.421G>T, XM_017004465.2:c.421G>T, XM_017004465.1:c.421G>T, XM_017004464.3:c.421G>T, XM_017004464.2:c.421G>T, XM_017004464.1:c.421G>T, XM_017004466.3:c.301G>T, XM_017004466.2:c.301G>T, XM_017004466.1:c.301G>T, NM_001330479.2:c.154G>T, NM_001330479.1:c.154G>T, NM_001330477.2:c.-317G>T, NM_001330477.1:c.-317G>T, NM_001330476.2:c.79G>T, NM_001330476.1:c.79G>T, NM_001330478.2:c.-242G>T, NM_001330478.1:c.-242G>T, XM_047444944.1:c.274G>T, XM_047444946.1:c.301G>T, XM_047444945.1:c.79G>T, XM_047444947.1:c.301G>T, NP_060434.2:p.Val101Phe, XP_011531265.1:p.Val141Phe, XP_011531264.1:p.Val27Phe, XP_011531261.1:p.Val141Phe, NP_001180442.1:p.Val141Phe, NP_001180443.1:p.Val101Phe, NP_001180444.1:p.Val72Phe, XP_016859954.1:p.Val141Phe, XP_016859953.1:p.Val141Phe, XP_016859955.1:p.Val101Phe, NP_001317408.1:p.Val52Phe, NP_001317405.1:p.Val27Phe, XP_047300900.1:p.Val92Phe, XP_047300902.1:p.Val101Phe, XP_047300901.1:p.Val27Phe, XP_047300903.1:p.Val101Phe

                              15.

                              rs1459537533 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:32192938 (GRCh38)
                                2:32418007 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:32192937:A:G
                                Gene:
                                SLC30A6 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                G=0.000009/2 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.32192938A>G, NC_000002.11:g.32418007A>G, NM_017964.5:c.386A>G, NM_017964.4:c.386A>G, NM_017964.3:c.386A>G, XM_011532963.4:c.506A>G, XM_011532963.3:c.506A>G, XM_011532963.2:c.506A>G, XM_011532963.1:c.506A>G, XM_011532962.4:c.164A>G, XM_011532962.3:c.164A>G, XM_011532962.2:c.164A>G, XM_011532962.1:c.164A>G, XM_011532959.4:c.506A>G, XM_011532959.3:c.506A>G, XM_011532959.2:c.506A>G, XM_011532959.1:c.506A>G, NM_001193513.3:c.506A>G, NM_001193513.2:c.506A>G, NM_001193513.1:c.506A>G, NM_001193514.3:c.386A>G, NM_001193514.2:c.386A>G, NM_001193514.1:c.386A>G, NM_001193515.3:c.299A>G, NM_001193515.2:c.299A>G, NM_001193515.1:c.299A>G, XM_017004465.3:c.506A>G, XM_017004465.2:c.506A>G, XM_017004465.1:c.506A>G, XM_017004464.3:c.506A>G, XM_017004464.2:c.506A>G, XM_017004464.1:c.506A>G, XM_017004466.3:c.386A>G, XM_017004466.2:c.386A>G, XM_017004466.1:c.386A>G, NM_001330479.2:c.239A>G, NM_001330479.1:c.239A>G, NM_001330477.2:c.-232A>G, NM_001330477.1:c.-232A>G, NM_001330476.2:c.164A>G, NM_001330476.1:c.164A>G, NM_001330478.2:c.-157A>G, NM_001330478.1:c.-157A>G, XM_047444944.1:c.359A>G, XM_047444946.1:c.386A>G, XM_047444945.1:c.164A>G, XM_047444947.1:c.386A>G, NP_060434.2:p.Gln129Arg, XP_011531265.1:p.Gln169Arg, XP_011531264.1:p.Gln55Arg, XP_011531261.1:p.Gln169Arg, NP_001180442.1:p.Gln169Arg, NP_001180443.1:p.Gln129Arg, NP_001180444.1:p.Gln100Arg, XP_016859954.1:p.Gln169Arg, XP_016859953.1:p.Gln169Arg, XP_016859955.1:p.Gln129Arg, NP_001317408.1:p.Gln80Arg, NP_001317405.1:p.Gln55Arg, XP_047300900.1:p.Gln120Arg, XP_047300902.1:p.Gln129Arg, XP_047300901.1:p.Gln55Arg, XP_047300903.1:p.Gln129Arg

                                16.

                                rs1458602745 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:32204611 (GRCh38)
                                  2:32429680 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:32204610:T:C
                                  Gene:
                                  SLC30A6 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.32204611T>C, NC_000002.11:g.32429680T>C, NM_017964.5:c.687T>C, NM_017964.4:c.687T>C, NM_017964.3:c.687T>C, XM_011532963.4:c.807T>C, XM_011532963.3:c.807T>C, XM_011532963.2:c.807T>C, XM_011532963.1:c.807T>C, XM_011532962.4:c.465T>C, XM_011532962.3:c.465T>C, XM_011532962.2:c.465T>C, XM_011532962.1:c.465T>C, XM_011532959.4:c.807T>C, XM_011532959.3:c.807T>C, XM_011532959.2:c.807T>C, XM_011532959.1:c.807T>C, NM_001193513.3:c.807T>C, NM_001193513.2:c.807T>C, NM_001193513.1:c.807T>C, NM_001193514.3:c.687T>C, NM_001193514.2:c.687T>C, NM_001193514.1:c.687T>C, NM_001193515.3:c.600T>C, NM_001193515.2:c.600T>C, NM_001193515.1:c.600T>C, NM_001330479.2:c.540T>C, NM_001330479.1:c.540T>C, NM_001330477.2:c.96T>C, NM_001330477.1:c.96T>C, NM_001330476.2:c.465T>C, NM_001330476.1:c.465T>C, NM_001330478.2:c.96T>C, NM_001330478.1:c.96T>C, XM_047444944.1:c.660T>C, XM_047444946.1:c.687T>C, XM_047444945.1:c.465T>C

                                  17.

                                  rs1458057299 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    2:32220527 (GRCh38)
                                    2:32445596 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:32220526:T:C,NC_000002.12:32220526:T:G
                                    Gene:
                                    SLC30A6 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000002.12:g.32220527T>C, NC_000002.12:g.32220527T>G, NC_000002.11:g.32445596T>C, NC_000002.11:g.32445596T>G, NM_017964.5:c.1200T>C, NM_017964.5:c.1200T>G, NM_017964.4:c.1200T>C, NM_017964.4:c.1200T>G, NM_017964.3:c.1200T>C, NM_017964.3:c.1200T>G, XM_011532963.4:c.*296T>C, XM_011532963.4:c.*296T>G, XM_011532963.3:c.*296T>C, XM_011532963.3:c.*296T>G, XM_011532962.4:c.978T>C, XM_011532962.4:c.978T>G, XM_011532962.3:c.978T>C, XM_011532962.3:c.978T>G, XM_011532962.2:c.978T>C, XM_011532962.2:c.978T>G, XM_011532962.1:c.978T>C, XM_011532962.1:c.978T>G, XM_011532959.4:c.1251T>C, XM_011532959.4:c.1251T>G, XM_011532959.3:c.1251T>C, XM_011532959.3:c.1251T>G, XM_011532959.2:c.1251T>C, XM_011532959.2:c.1251T>G, XM_011532959.1:c.1251T>C, XM_011532959.1:c.1251T>G, NM_001193513.3:c.1320T>C, NM_001193513.3:c.1320T>G, NM_001193513.2:c.1320T>C, NM_001193513.2:c.1320T>G, NM_001193513.1:c.1320T>C, NM_001193513.1:c.1320T>G, NM_001193514.3:c.1131T>C, NM_001193514.3:c.1131T>G, NM_001193514.2:c.1131T>C, NM_001193514.2:c.1131T>G, NM_001193514.1:c.1131T>C, NM_001193514.1:c.1131T>G, NM_001193515.3:c.1113T>C, NM_001193515.3:c.1113T>G, NM_001193515.2:c.1113T>C, NM_001193515.2:c.1113T>G, NM_001193515.1:c.1113T>C, NM_001193515.1:c.1113T>G, XM_017004465.3:c.*296T>C, XM_017004465.3:c.*296T>G, XM_017004465.2:c.*296T>C, XM_017004465.2:c.*296T>G, NM_001330479.2:c.1053T>C, NM_001330479.2:c.1053T>G, NM_001330479.1:c.1053T>C, NM_001330479.1:c.1053T>G, NM_001330477.2:c.609T>C, NM_001330477.2:c.609T>G, NM_001330477.1:c.609T>C, NM_001330477.1:c.609T>G, NM_001330476.2:c.978T>C, NM_001330476.2:c.978T>G, NM_001330476.1:c.978T>C, NM_001330476.1:c.978T>G, NM_001330478.2:c.609T>C, NM_001330478.2:c.609T>G, NM_001330478.1:c.609T>C, NM_001330478.1:c.609T>G, XM_047444944.1:c.1173T>C, XM_047444944.1:c.1173T>G, XM_047444946.1:c.*296T>C, XM_047444946.1:c.*296T>G, XM_047444945.1:c.978T>C, XM_047444945.1:c.978T>G, XM_047444947.1:c.*296T>C, XM_047444947.1:c.*296T>G, NP_060434.2:p.Ile400Met, XP_011531264.1:p.Ile326Met, XP_011531261.1:p.Ile417Met, NP_001180442.1:p.Ile440Met, NP_001180443.1:p.Ile377Met, NP_001180444.1:p.Ile371Met, NP_001317408.1:p.Ile351Met, NP_001317406.1:p.Ile203Met, NP_001317405.1:p.Ile326Met, NP_001317407.1:p.Ile203Met, XP_047300900.1:p.Ile391Met, XP_047300901.1:p.Ile326Met

                                    18.

                                    rs1457992826 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:32209545 (GRCh38)
                                      2:32434614 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:32209544:T:C
                                      Gene:
                                      SLC30A6 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                      HGVS:
                                      NC_000002.12:g.32209545T>C, NC_000002.11:g.32434614T>C, NM_017964.5:c.869T>C, NM_017964.4:c.869T>C, NM_017964.3:c.869T>C, XM_011532963.4:c.989T>C, XM_011532963.3:c.989T>C, XM_011532963.2:c.989T>C, XM_011532963.1:c.989T>C, XM_011532962.4:c.647T>C, XM_011532962.3:c.647T>C, XM_011532962.2:c.647T>C, XM_011532962.1:c.647T>C, NM_001193513.3:c.989T>C, NM_001193513.2:c.989T>C, NM_001193513.1:c.989T>C, NM_001193515.3:c.782T>C, NM_001193515.2:c.782T>C, NM_001193515.1:c.782T>C, NM_001330479.2:c.722T>C, NM_001330479.1:c.722T>C, NM_001330477.2:c.278T>C, NM_001330477.1:c.278T>C, NM_001330476.2:c.647T>C, NM_001330476.1:c.647T>C, NM_001330478.2:c.278T>C, NM_001330478.1:c.278T>C, XM_047444944.1:c.842T>C, XM_047444946.1:c.869T>C, XM_047444945.1:c.647T>C, NP_060434.2:p.Leu290Pro, XP_011531265.1:p.Leu330Pro, XP_011531264.1:p.Leu216Pro, NP_001180442.1:p.Leu330Pro, NP_001180444.1:p.Leu261Pro, NP_001317408.1:p.Leu241Pro, NP_001317406.1:p.Leu93Pro, NP_001317405.1:p.Leu216Pro, NP_001317407.1:p.Leu93Pro, XP_047300900.1:p.Leu281Pro, XP_047300902.1:p.Leu290Pro, XP_047300901.1:p.Leu216Pro

                                      19.

                                      rs1457611074 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        2:32220524 (GRCh38)
                                        2:32445593 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:32220523:T:G
                                        Gene:
                                        SLC30A6 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.32220524T>G, NC_000002.11:g.32445593T>G, NM_017964.5:c.1197T>G, NM_017964.4:c.1197T>G, NM_017964.3:c.1197T>G, XM_011532963.4:c.*293T>G, XM_011532963.3:c.*293T>G, XM_011532962.4:c.975T>G, XM_011532962.3:c.975T>G, XM_011532962.2:c.975T>G, XM_011532962.1:c.975T>G, XM_011532959.4:c.1248T>G, XM_011532959.3:c.1248T>G, XM_011532959.2:c.1248T>G, XM_011532959.1:c.1248T>G, NM_001193513.3:c.1317T>G, NM_001193513.2:c.1317T>G, NM_001193513.1:c.1317T>G, NM_001193514.3:c.1128T>G, NM_001193514.2:c.1128T>G, NM_001193514.1:c.1128T>G, NM_001193515.3:c.1110T>G, NM_001193515.2:c.1110T>G, NM_001193515.1:c.1110T>G, XM_017004465.3:c.*293T>G, XM_017004465.2:c.*293T>G, NM_001330479.2:c.1050T>G, NM_001330479.1:c.1050T>G, NM_001330477.2:c.606T>G, NM_001330477.1:c.606T>G, NM_001330476.2:c.975T>G, NM_001330476.1:c.975T>G, NM_001330478.2:c.606T>G, NM_001330478.1:c.606T>G, XM_047444944.1:c.1170T>G, XM_047444946.1:c.*293T>G, XM_047444945.1:c.975T>G, XM_047444947.1:c.*293T>G

                                        20.

                                        rs1454009026 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:32197371 (GRCh38)
                                          2:32422440 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:32197370:A:C
                                          Gene:
                                          SLC30A6 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.32197371A>C, NC_000002.11:g.32422440A>C, NM_017964.5:c.524A>C, NM_017964.4:c.524A>C, NM_017964.3:c.524A>C, XM_011532963.4:c.644A>C, XM_011532963.3:c.644A>C, XM_011532963.2:c.644A>C, XM_011532963.1:c.644A>C, XM_011532962.4:c.302A>C, XM_011532962.3:c.302A>C, XM_011532962.2:c.302A>C, XM_011532962.1:c.302A>C, XM_011532959.4:c.644A>C, XM_011532959.3:c.644A>C, XM_011532959.2:c.644A>C, XM_011532959.1:c.644A>C, NM_001193513.3:c.644A>C, NM_001193513.2:c.644A>C, NM_001193513.1:c.644A>C, NM_001193514.3:c.524A>C, NM_001193514.2:c.524A>C, NM_001193514.1:c.524A>C, NM_001193515.3:c.437A>C, NM_001193515.2:c.437A>C, NM_001193515.1:c.437A>C, XM_017004465.3:c.644A>C, XM_017004465.2:c.644A>C, XM_017004465.1:c.644A>C, XM_017004464.3:c.644A>C, XM_017004464.2:c.644A>C, XM_017004464.1:c.644A>C, XM_017004466.3:c.524A>C, XM_017004466.2:c.524A>C, XM_017004466.1:c.524A>C, NM_001330479.2:c.377A>C, NM_001330479.1:c.377A>C, NM_001330477.2:c.-68A>C, NM_001330477.1:c.-68A>C, NM_001330476.2:c.302A>C, NM_001330476.1:c.302A>C, XM_047444944.1:c.497A>C, XM_047444946.1:c.524A>C, XM_047444945.1:c.302A>C, XM_047444947.1:c.524A>C, NP_060434.2:p.His175Pro, XP_011531265.1:p.His215Pro, XP_011531264.1:p.His101Pro, XP_011531261.1:p.His215Pro, NP_001180442.1:p.His215Pro, NP_001180443.1:p.His175Pro, NP_001180444.1:p.His146Pro, XP_016859954.1:p.His215Pro, XP_016859953.1:p.His215Pro, XP_016859955.1:p.His175Pro, NP_001317408.1:p.His126Pro, NP_001317405.1:p.His101Pro, XP_047300900.1:p.His166Pro, XP_047300902.1:p.His175Pro, XP_047300901.1:p.His101Pro, XP_047300903.1:p.His175Pro

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