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Items: 1 to 20 of 1223

1.

rs1490390074 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    7:2541376 (GRCh38)
    7:2581010 (GRCh37)
    Canonical SPDI:
    NC_000007.14:2541375:G:A,NC_000007.14:2541375:G:T
    Gene:
    BRAT1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    A=0.000554/1 (Korea1K)
    HGVS:
    NC_000007.14:g.2541376G>A, NC_000007.14:g.2541376G>T, NC_000007.13:g.2581010G>A, NC_000007.13:g.2581010G>T, NG_032167.1:g.19383C>T, NG_032167.1:g.19383C>A, NM_152743.4:c.1243C>T, NM_152743.4:c.1243C>A, NM_152743.3:c.1243C>T, NM_152743.3:c.1243C>A, NM_001350626.2:c.1243C>T, NM_001350626.2:c.1243C>A, NM_001350626.1:c.1243C>T, NM_001350626.1:c.1243C>A, NR_146879.2:n.1302C>T, NR_146879.2:n.1302C>A, NR_146879.1:n.1536C>T, NR_146879.1:n.1536C>A, NM_001350627.2:c.718C>T, NM_001350627.2:c.718C>A, NM_001350627.1:c.718C>T, NM_001350627.1:c.718C>A, XM_011515184.4:c.718C>T, XM_011515184.4:c.718C>A, XM_011515184.3:c.718C>T, XM_011515184.3:c.718C>A, XM_011515184.2:c.718C>T, XM_011515184.2:c.718C>A, XM_011515184.1:c.718C>T, XM_011515184.1:c.718C>A, XM_011515177.3:c.1243C>T, XM_011515177.3:c.1243C>A, XM_011515177.2:c.1243C>T, XM_011515177.2:c.1243C>A, XM_011515177.1:c.1243C>T, XM_011515177.1:c.1243C>A, XM_011515179.3:c.1240C>T, XM_011515179.3:c.1240C>A, XM_011515179.2:c.1240C>T, XM_011515179.2:c.1240C>A, XM_011515179.1:c.1240C>T, XM_011515179.1:c.1240C>A, XM_011515181.3:c.1243C>T, XM_011515181.3:c.1243C>A, XM_011515181.2:c.1243C>T, XM_011515181.2:c.1243C>A, XM_011515181.1:c.1243C>T, XM_011515181.1:c.1243C>A, XM_011515186.3:c.1243C>T, XM_011515186.3:c.1243C>A, XM_011515186.2:c.1243C>T, XM_011515186.2:c.1243C>A, XM_011515186.1:c.1243C>T, XM_011515186.1:c.1243C>A, XM_017011836.3:c.1243C>T, XM_017011836.3:c.1243C>A, XM_017011836.2:c.1243C>T, XM_017011836.2:c.1243C>A, XM_017011836.1:c.1243C>T, XM_017011836.1:c.1243C>A, XM_011515178.2:c.1243C>T, XM_011515178.2:c.1243C>A, XM_011515178.1:c.1243C>T, XM_011515178.1:c.1243C>A, XM_017011834.2:c.1240C>T, XM_017011834.2:c.1240C>A, XM_017011834.1:c.1240C>T, XM_017011834.1:c.1240C>A, XM_047420028.1:c.1240C>T, XM_047420028.1:c.1240C>A, XM_047420030.1:c.718C>T, XM_047420030.1:c.718C>A, XM_047420032.1:c.1240C>T, XM_047420032.1:c.1240C>A, XM_047420031.1:c.718C>T, XM_047420031.1:c.718C>A, XM_047420033.1:c.1240C>T, XM_047420033.1:c.1240C>A, XM_047420034.1:c.1243C>T, XM_047420034.1:c.1243C>A, XM_047420035.1:c.1243C>T, XM_047420035.1:c.1243C>A, XM_047420036.1:c.1243C>T, XM_047420036.1:c.1243C>A, NP_689956.2:p.Leu415Phe, NP_689956.2:p.Leu415Ile, NP_001337555.1:p.Leu415Phe, NP_001337555.1:p.Leu415Ile, NP_001337556.1:p.Leu240Phe, NP_001337556.1:p.Leu240Ile, XP_011513486.1:p.Leu240Phe, XP_011513486.1:p.Leu240Ile, XP_011513479.1:p.Leu415Phe, XP_011513479.1:p.Leu415Ile, XP_011513481.1:p.Leu414Phe, XP_011513481.1:p.Leu414Ile, XP_011513483.1:p.Leu415Phe, XP_011513483.1:p.Leu415Ile, XP_011513488.1:p.Leu415Phe, XP_011513488.1:p.Leu415Ile, XP_016867325.1:p.Leu415Phe, XP_016867325.1:p.Leu415Ile, XP_011513480.1:p.Leu415Phe, XP_011513480.1:p.Leu415Ile, XP_016867323.1:p.Leu414Phe, XP_016867323.1:p.Leu414Ile, XP_047275984.1:p.Leu414Phe, XP_047275984.1:p.Leu414Ile, XP_047275986.1:p.Leu240Phe, XP_047275986.1:p.Leu240Ile, XP_047275988.1:p.Leu414Phe, XP_047275988.1:p.Leu414Ile, XP_047275987.1:p.Leu240Phe, XP_047275987.1:p.Leu240Ile, XP_047275989.1:p.Leu414Phe, XP_047275989.1:p.Leu414Ile, XP_047275990.1:p.Leu415Phe, XP_047275990.1:p.Leu415Ile, XP_047275991.1:p.Leu415Phe, XP_047275991.1:p.Leu415Ile, XP_047275992.1:p.Leu415Phe, XP_047275992.1:p.Leu415Ile

    2.

    rs1489332870 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:2538653 (GRCh38)
      7:2578287 (GRCh37)
      Canonical SPDI:
      NC_000007.14:2538652:C:T
      Gene:
      BRAT1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000009/2 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.2538653C>T, NC_000007.13:g.2578287C>T, NG_032167.1:g.22106G>A, NM_152743.4:c.1882G>A, NM_152743.3:c.1882G>A, NM_001350626.2:c.2062G>A, NM_001350626.1:c.2062G>A, NR_146879.2:n.2065G>A, NR_146879.1:n.2299G>A, NM_001350627.2:c.1357G>A, NM_001350627.1:c.1357G>A, XM_011515184.4:c.1621G>A, XM_011515184.3:c.1621G>A, XM_011515184.2:c.1621G>A, XM_011515184.1:c.1621G>A, XM_011515177.3:c.2146G>A, XM_011515177.2:c.2146G>A, XM_011515177.1:c.2146G>A, XM_011515179.3:c.2143G>A, XM_011515179.2:c.2143G>A, XM_011515179.1:c.2143G>A, XM_011515181.3:c.1966G>A, XM_011515181.2:c.1966G>A, XM_011515181.1:c.1966G>A, XM_011515186.3:c.*29G>A, XM_011515186.2:c.*29G>A, XM_011515186.1:c.*29G>A, XM_017011836.3:c.*29G>A, XM_017011836.2:c.*29G>A, XM_017011836.1:c.*29G>A, XM_011515178.2:c.2146G>A, XM_011515178.1:c.2146G>A, XM_017011834.2:c.1879G>A, XM_017011834.1:c.1879G>A, XM_024446682.2:c.718G>A, XM_024446682.1:c.718G>A, XM_047420028.1:c.2059G>A, XM_047420030.1:c.1621G>A, XM_047420032.1:c.*29G>A, XM_047420031.1:c.1357G>A, XM_047420033.1:c.*29G>A, NP_689956.2:p.Ala628Thr, NP_001337555.1:p.Ala688Thr, NP_001337556.1:p.Ala453Thr, XP_011513486.1:p.Ala541Thr, XP_011513479.1:p.Ala716Thr, XP_011513481.1:p.Ala715Thr, XP_011513483.1:p.Ala656Thr, XP_011513480.1:p.Ala716Thr, XP_016867323.1:p.Ala627Thr, XP_024302450.1:p.Ala240Thr, XP_047275984.1:p.Ala687Thr, XP_047275986.1:p.Ala541Thr, XP_047275987.1:p.Ala453Thr

      3.

      rs1488916734 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:2539225 (GRCh38)
        7:2578859 (GRCh37)
        Canonical SPDI:
        NC_000007.14:2539224:T:C
        Gene:
        BRAT1 (Varview)
        Functional Consequence:
        downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.2539225T>C, NC_000007.13:g.2578859T>C, NG_032167.1:g.21534A>G, NM_152743.4:c.1724A>G, NM_152743.3:c.1724A>G, NM_001350626.2:c.1724A>G, NM_001350626.1:c.1724A>G, NR_146879.2:n.1907A>G, NR_146879.1:n.2141A>G, NM_001350627.2:c.1199A>G, NM_001350627.1:c.1199A>G, XM_011515184.4:c.1283A>G, XM_011515184.3:c.1283A>G, XM_011515184.2:c.1283A>G, XM_011515184.1:c.1283A>G, XM_011515177.3:c.1808A>G, XM_011515177.2:c.1808A>G, XM_011515177.1:c.1808A>G, XM_011515179.3:c.1805A>G, XM_011515179.2:c.1805A>G, XM_011515179.1:c.1805A>G, XM_011515181.3:c.1808A>G, XM_011515181.2:c.1808A>G, XM_011515181.1:c.1808A>G, XM_011515178.2:c.1808A>G, XM_011515178.1:c.1808A>G, XM_017011834.2:c.1721A>G, XM_017011834.1:c.1721A>G, XM_024446682.2:c.380A>G, XM_024446682.1:c.380A>G, XM_047420028.1:c.1721A>G, XM_047420030.1:c.1283A>G, XM_047420031.1:c.1199A>G, NP_689956.2:p.Gln575Arg, NP_001337555.1:p.Gln575Arg, NP_001337556.1:p.Gln400Arg, XP_011513486.1:p.Gln428Arg, XP_011513479.1:p.Gln603Arg, XP_011513481.1:p.Gln602Arg, XP_011513483.1:p.Gln603Arg, XP_011513480.1:p.Gln603Arg, XP_016867323.1:p.Gln574Arg, XP_024302450.1:p.Gln127Arg, XP_047275984.1:p.Gln574Arg, XP_047275986.1:p.Gln428Arg, XP_047275987.1:p.Gln400Arg

        4.

        rs1487216075 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          7:2538696 (GRCh38)
          7:2578330 (GRCh37)
          Canonical SPDI:
          NC_000007.14:2538695:C:G,NC_000007.14:2538695:C:T
          Gene:
          BRAT1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000007.14:g.2538696C>G, NC_000007.14:g.2538696C>T, NC_000007.13:g.2578330C>G, NC_000007.13:g.2578330C>T, NG_032167.1:g.22063G>C, NG_032167.1:g.22063G>A, NM_152743.4:c.1839G>C, NM_152743.4:c.1839G>A, NM_152743.3:c.1839G>C, NM_152743.3:c.1839G>A, NM_001350626.2:c.2019G>C, NM_001350626.2:c.2019G>A, NM_001350626.1:c.2019G>C, NM_001350626.1:c.2019G>A, NR_146879.2:n.2022G>C, NR_146879.2:n.2022G>A, NR_146879.1:n.2256G>C, NR_146879.1:n.2256G>A, NM_001350627.2:c.1314G>C, NM_001350627.2:c.1314G>A, NM_001350627.1:c.1314G>C, NM_001350627.1:c.1314G>A, XM_011515184.4:c.1578G>C, XM_011515184.4:c.1578G>A, XM_011515184.3:c.1578G>C, XM_011515184.3:c.1578G>A, XM_011515184.2:c.1578G>C, XM_011515184.2:c.1578G>A, XM_011515184.1:c.1578G>C, XM_011515184.1:c.1578G>A, XM_011515177.3:c.2103G>C, XM_011515177.3:c.2103G>A, XM_011515177.2:c.2103G>C, XM_011515177.2:c.2103G>A, XM_011515177.1:c.2103G>C, XM_011515177.1:c.2103G>A, XM_011515179.3:c.2100G>C, XM_011515179.3:c.2100G>A, XM_011515179.2:c.2100G>C, XM_011515179.2:c.2100G>A, XM_011515179.1:c.2100G>C, XM_011515179.1:c.2100G>A, XM_011515181.3:c.1923G>C, XM_011515181.3:c.1923G>A, XM_011515181.2:c.1923G>C, XM_011515181.2:c.1923G>A, XM_011515181.1:c.1923G>C, XM_011515181.1:c.1923G>A, XM_011515186.3:c.1750G>C, XM_011515186.3:c.1750G>A, XM_011515186.2:c.1750G>C, XM_011515186.2:c.1750G>A, XM_011515186.1:c.1750G>C, XM_011515186.1:c.1750G>A, XM_017011836.3:c.1666G>C, XM_017011836.3:c.1666G>A, XM_017011836.2:c.1666G>C, XM_017011836.2:c.1666G>A, XM_017011836.1:c.1666G>C, XM_017011836.1:c.1666G>A, XM_011515178.2:c.2103G>C, XM_011515178.2:c.2103G>A, XM_011515178.1:c.2103G>C, XM_011515178.1:c.2103G>A, XM_017011834.2:c.1836G>C, XM_017011834.2:c.1836G>A, XM_017011834.1:c.1836G>C, XM_017011834.1:c.1836G>A, XM_024446682.2:c.675G>C, XM_024446682.2:c.675G>A, XM_024446682.1:c.675G>C, XM_024446682.1:c.675G>A, XM_047420028.1:c.2016G>C, XM_047420028.1:c.2016G>A, XM_047420030.1:c.1578G>C, XM_047420030.1:c.1578G>A, XM_047420032.1:c.1747G>C, XM_047420032.1:c.1747G>A, XM_047420031.1:c.1314G>C, XM_047420031.1:c.1314G>A, XM_047420033.1:c.1663G>C, XM_047420033.1:c.1663G>A, NP_689956.2:p.Met613Ile, NP_689956.2:p.Met613Ile, NP_001337555.1:p.Met673Ile, NP_001337555.1:p.Met673Ile, NP_001337556.1:p.Met438Ile, NP_001337556.1:p.Met438Ile, XP_011513486.1:p.Met526Ile, XP_011513486.1:p.Met526Ile, XP_011513479.1:p.Met701Ile, XP_011513479.1:p.Met701Ile, XP_011513481.1:p.Met700Ile, XP_011513481.1:p.Met700Ile, XP_011513483.1:p.Met641Ile, XP_011513483.1:p.Met641Ile, XP_011513488.1:p.Ala584Pro, XP_011513488.1:p.Ala584Thr, XP_016867325.1:p.Ala556Pro, XP_016867325.1:p.Ala556Thr, XP_011513480.1:p.Met701Ile, XP_011513480.1:p.Met701Ile, XP_016867323.1:p.Met612Ile, XP_016867323.1:p.Met612Ile, XP_024302450.1:p.Met225Ile, XP_024302450.1:p.Met225Ile, XP_047275984.1:p.Met672Ile, XP_047275984.1:p.Met672Ile, XP_047275986.1:p.Met526Ile, XP_047275986.1:p.Met526Ile, XP_047275988.1:p.Ala583Pro, XP_047275988.1:p.Ala583Thr, XP_047275987.1:p.Met438Ile, XP_047275987.1:p.Met438Ile, XP_047275989.1:p.Ala555Pro, XP_047275989.1:p.Ala555Thr

          5.

          rs1486373355 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:2544927 (GRCh38)
            7:2584561 (GRCh37)
            Canonical SPDI:
            NC_000007.14:2544926:G:A
            Gene:
            BRAT1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            HGVS:
            NC_000007.14:g.2544927G>A, NC_000007.13:g.2584561G>A, NG_032167.1:g.15832C>T, NM_152743.4:c.412C>T, NM_152743.3:c.412C>T, NM_001350626.2:c.412C>T, NM_001350626.1:c.412C>T, NR_146879.2:n.471C>T, NR_146879.1:n.705C>T, XM_011515184.4:c.-114C>T, XM_011515184.3:c.-114C>T, XM_011515184.2:c.-114C>T, XM_011515184.1:c.-114C>T, XM_011515177.3:c.412C>T, XM_011515177.2:c.412C>T, XM_011515177.1:c.412C>T, XM_011515179.3:c.409C>T, XM_011515179.2:c.409C>T, XM_011515179.1:c.409C>T, XM_011515181.3:c.412C>T, XM_011515181.2:c.412C>T, XM_011515181.1:c.412C>T, XM_011515186.3:c.412C>T, XM_011515186.2:c.412C>T, XM_011515186.1:c.412C>T, XM_017011836.3:c.412C>T, XM_017011836.2:c.412C>T, XM_017011836.1:c.412C>T, XM_011515178.2:c.412C>T, XM_011515178.1:c.412C>T, XM_017011834.2:c.409C>T, XM_017011834.1:c.409C>T, XM_047420028.1:c.409C>T, XM_047420032.1:c.409C>T, XM_047420033.1:c.409C>T, XM_047420034.1:c.412C>T, XM_047420035.1:c.412C>T, XM_047420036.1:c.412C>T, NP_689956.2:p.Arg138Cys, NP_001337555.1:p.Arg138Cys, XP_011513479.1:p.Arg138Cys, XP_011513481.1:p.Arg137Cys, XP_011513483.1:p.Arg138Cys, XP_011513488.1:p.Arg138Cys, XP_016867325.1:p.Arg138Cys, XP_011513480.1:p.Arg138Cys, XP_016867323.1:p.Arg137Cys, XP_047275984.1:p.Arg137Cys, XP_047275988.1:p.Arg137Cys, XP_047275989.1:p.Arg137Cys, XP_047275990.1:p.Arg138Cys, XP_047275991.1:p.Arg138Cys, XP_047275992.1:p.Arg138Cys

            6.

            rs1485917399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:2554384 (GRCh38)
              7:2594018 (GRCh37)
              Canonical SPDI:
              NC_000007.14:2554383:C:T
              Gene:
              BRAT1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
              HGVS:
              NC_000007.14:g.2554384C>T, NC_000007.13:g.2594018C>T, NG_032167.1:g.6375G>A, NM_152743.4:c.48G>A, NM_152743.3:c.48G>A, NM_001350626.2:c.48G>A, NM_001350626.1:c.48G>A, NR_146879.2:n.107G>A, NR_146879.1:n.341G>A, NM_001350627.2:c.-330G>A, NM_001350627.1:c.-330G>A, XM_011515184.4:c.-537G>A, XM_011515184.3:c.-537G>A, XM_011515184.2:c.-537G>A, XM_011515177.3:c.48G>A, XM_011515177.2:c.48G>A, XM_011515177.1:c.48G>A, XM_011515179.3:c.48G>A, XM_011515179.2:c.48G>A, XM_011515179.1:c.48G>A, XM_011515181.3:c.48G>A, XM_011515181.2:c.48G>A, XM_011515181.1:c.48G>A, XM_011515186.3:c.48G>A, XM_011515186.2:c.48G>A, XM_011515186.1:c.48G>A, XM_017011836.3:c.48G>A, XM_017011836.2:c.48G>A, XM_017011836.1:c.48G>A, XM_011515178.2:c.48G>A, XM_011515178.1:c.48G>A, XM_017011834.2:c.48G>A, XM_017011834.1:c.48G>A, XM_047420028.1:c.48G>A, XM_047420030.1:c.-389G>A, XM_047420032.1:c.48G>A, XM_047420031.1:c.-389G>A, XM_047420033.1:c.48G>A, XM_047420034.1:c.48G>A, XM_047420035.1:c.48G>A, XM_047420036.1:c.48G>A

              7.

              rs1485274454 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                7:2554417 (GRCh38)
                7:2594051 (GRCh37)
                Canonical SPDI:
                NC_000007.14:2554416:G:A,NC_000007.14:2554416:G:C
                Gene:
                BRAT1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000007.14:g.2554417G>A, NC_000007.14:g.2554417G>C, NC_000007.13:g.2594051G>A, NC_000007.13:g.2594051G>C, NG_032167.1:g.6342C>T, NG_032167.1:g.6342C>G, NM_152743.4:c.15C>T, NM_152743.4:c.15C>G, NM_152743.3:c.15C>T, NM_152743.3:c.15C>G, NM_001350626.2:c.15C>T, NM_001350626.2:c.15C>G, NM_001350626.1:c.15C>T, NM_001350626.1:c.15C>G, NR_146879.2:n.74C>T, NR_146879.2:n.74C>G, NR_146879.1:n.308C>T, NR_146879.1:n.308C>G, NM_001350627.2:c.-363C>T, NM_001350627.2:c.-363C>G, NM_001350627.1:c.-363C>T, NM_001350627.1:c.-363C>G, XM_011515184.4:c.-570C>T, XM_011515184.4:c.-570C>G, XM_011515177.3:c.15C>T, XM_011515177.3:c.15C>G, XM_011515177.2:c.15C>T, XM_011515177.2:c.15C>G, XM_011515177.1:c.15C>T, XM_011515177.1:c.15C>G, XM_011515179.3:c.15C>T, XM_011515179.3:c.15C>G, XM_011515179.2:c.15C>T, XM_011515179.2:c.15C>G, XM_011515179.1:c.15C>T, XM_011515179.1:c.15C>G, XM_011515181.3:c.15C>T, XM_011515181.3:c.15C>G, XM_011515181.2:c.15C>T, XM_011515181.2:c.15C>G, XM_011515181.1:c.15C>T, XM_011515181.1:c.15C>G, XM_011515186.3:c.15C>T, XM_011515186.3:c.15C>G, XM_011515186.2:c.15C>T, XM_011515186.2:c.15C>G, XM_011515186.1:c.15C>T, XM_011515186.1:c.15C>G, XM_017011836.3:c.15C>T, XM_017011836.3:c.15C>G, XM_017011836.2:c.15C>T, XM_017011836.2:c.15C>G, XM_017011836.1:c.15C>T, XM_017011836.1:c.15C>G, XM_011515178.2:c.15C>T, XM_011515178.2:c.15C>G, XM_011515178.1:c.15C>T, XM_011515178.1:c.15C>G, XM_017011834.2:c.15C>T, XM_017011834.2:c.15C>G, XM_017011834.1:c.15C>T, XM_017011834.1:c.15C>G, XM_047420028.1:c.15C>T, XM_047420028.1:c.15C>G, XM_047420030.1:c.-422C>T, XM_047420030.1:c.-422C>G, XM_047420032.1:c.15C>T, XM_047420032.1:c.15C>G, XM_047420031.1:c.-422C>T, XM_047420031.1:c.-422C>G, XM_047420033.1:c.15C>T, XM_047420033.1:c.15C>G, XM_047420034.1:c.15C>T, XM_047420034.1:c.15C>G, XM_047420035.1:c.15C>T, XM_047420035.1:c.15C>G, XM_047420036.1:c.15C>T, XM_047420036.1:c.15C>G, NP_689956.2:p.Cys5Trp, NP_001337555.1:p.Cys5Trp, XP_011513479.1:p.Cys5Trp, XP_011513481.1:p.Cys5Trp, XP_011513483.1:p.Cys5Trp, XP_011513488.1:p.Cys5Trp, XP_016867325.1:p.Cys5Trp, XP_011513480.1:p.Cys5Trp, XP_016867323.1:p.Cys5Trp, XP_047275984.1:p.Cys5Trp, XP_047275988.1:p.Cys5Trp, XP_047275989.1:p.Cys5Trp, XP_047275990.1:p.Cys5Trp, XP_047275991.1:p.Cys5Trp, XP_047275992.1:p.Cys5Trp

                8.

                rs1483070133 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:2538098 (GRCh38)
                  7:2577732 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:2538097:G:A
                  Gene:
                  BRAT1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.00007/1 (ALFA)
                  HGVS:
                  NC_000007.14:g.2538098G>A, NC_000007.13:g.2577732G>A, NG_032167.1:g.22661C>T, NM_152743.4:c.2437C>T, NM_152743.3:c.2437C>T, NM_001350626.2:c.2617C>T, NM_001350626.1:c.2617C>T, NR_146879.2:n.2620C>T, NR_146879.1:n.2854C>T, NM_001350627.2:c.1912C>T, NM_001350627.1:c.1912C>T, XM_011515184.4:c.2176C>T, XM_011515184.3:c.2176C>T, XM_011515184.2:c.2176C>T, XM_011515184.1:c.2176C>T, XM_011515177.3:c.2701C>T, XM_011515177.2:c.2701C>T, XM_011515177.1:c.2701C>T, XM_011515179.3:c.2698C>T, XM_011515179.2:c.2698C>T, XM_011515179.1:c.2698C>T, XM_011515181.3:c.2521C>T, XM_011515181.2:c.2521C>T, XM_011515181.1:c.2521C>T, XM_011515186.3:c.*584C>T, XM_011515186.2:c.*584C>T, XM_017011836.3:c.*584C>T, XM_017011836.2:c.*584C>T, XM_017011836.1:c.*584C>T, XM_011515178.2:c.2701C>T, XM_011515178.1:c.2701C>T, XM_017011834.2:c.2434C>T, XM_017011834.1:c.2434C>T, XM_024446682.2:c.1273C>T, XM_024446682.1:c.1273C>T, XM_047420028.1:c.2614C>T, XM_047420030.1:c.2176C>T, XM_047420032.1:c.*584C>T, XM_047420031.1:c.1912C>T, XM_047420033.1:c.*584C>T

                  9.

                  rs1481786854 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAG>- [Show Flanks]
                    Chromosome:
                    7:2543604 (GRCh38)
                    7:2583238 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:2543601:AGAAG:AG
                    Gene:
                    BRAT1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.2543604_2543606del, NC_000007.13:g.2583238_2583240del, NG_032167.1:g.17155_17157del, NM_152743.4:c.789_791del, NM_152743.3:c.789_791del, NM_001350626.2:c.789_791del, NM_001350626.1:c.789_791del, NR_146879.2:n.848_850del, NR_146879.1:n.1082_1084del, NM_001350627.2:c.264_266del, NM_001350627.1:c.264_266del, XM_011515184.4:c.264_266del, XM_011515184.3:c.264_266del, XM_011515184.2:c.264_266del, XM_011515184.1:c.264_266del, XM_011515177.3:c.789_791del, XM_011515177.2:c.789_791del, XM_011515177.1:c.789_791del, XM_011515179.3:c.786_788del, XM_011515179.2:c.786_788del, XM_011515179.1:c.786_788del, XM_011515181.3:c.789_791del, XM_011515181.2:c.789_791del, XM_011515181.1:c.789_791del, XM_011515186.3:c.789_791del, XM_011515186.2:c.789_791del, XM_011515186.1:c.789_791del, XM_017011836.3:c.789_791del, XM_017011836.2:c.789_791del, XM_017011836.1:c.789_791del, XM_011515178.2:c.789_791del, XM_011515178.1:c.789_791del, XM_017011834.2:c.786_788del, XM_017011834.1:c.786_788del, XM_047420028.1:c.786_788del, XM_047420030.1:c.264_266del, XM_047420032.1:c.786_788del, XM_047420031.1:c.264_266del, XM_047420033.1:c.786_788del, XM_047420034.1:c.789_791del, XM_047420035.1:c.789_791del, XM_047420036.1:c.789_791del, NP_689956.2:p.Leu264del, NP_001337555.1:p.Leu264del, NP_001337556.1:p.Leu89del, XP_011513486.1:p.Leu89del, XP_011513479.1:p.Leu264del, XP_011513481.1:p.Leu263del, XP_011513483.1:p.Leu264del, XP_011513488.1:p.Leu264del, XP_016867325.1:p.Leu264del, XP_011513480.1:p.Leu264del, XP_016867323.1:p.Leu263del, XP_047275984.1:p.Leu263del, XP_047275986.1:p.Leu89del, XP_047275988.1:p.Leu263del, XP_047275987.1:p.Leu89del, XP_047275989.1:p.Leu263del, XP_047275990.1:p.Leu264del, XP_047275991.1:p.Leu264del, XP_047275992.1:p.Leu264del

                    10.

                    rs1481624181 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      7:2539310 (GRCh38)
                      7:2578944 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:2539309:G:C
                      Gene:
                      BRAT1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000007.14:g.2539310G>C, NC_000007.13:g.2578944G>C, NG_032167.1:g.21449C>G, NM_152743.4:c.1639C>G, NM_152743.3:c.1639C>G, NM_001350626.2:c.1639C>G, NM_001350626.1:c.1639C>G, NR_146879.2:n.1822C>G, NR_146879.1:n.2056C>G, NM_001350627.2:c.1114C>G, NM_001350627.1:c.1114C>G, XM_011515184.4:c.1198C>G, XM_011515184.3:c.1198C>G, XM_011515184.2:c.1198C>G, XM_011515184.1:c.1198C>G, XM_011515177.3:c.1723C>G, XM_011515177.2:c.1723C>G, XM_011515177.1:c.1723C>G, XM_011515179.3:c.1720C>G, XM_011515179.2:c.1720C>G, XM_011515179.1:c.1720C>G, XM_011515181.3:c.1723C>G, XM_011515181.2:c.1723C>G, XM_011515181.1:c.1723C>G, XM_011515178.2:c.1723C>G, XM_011515178.1:c.1723C>G, XM_017011834.2:c.1636C>G, XM_017011834.1:c.1636C>G, XM_024446682.2:c.295C>G, XM_024446682.1:c.295C>G, XM_047420028.1:c.1636C>G, XM_047420030.1:c.1198C>G, XM_047420031.1:c.1114C>G, NP_689956.2:p.Pro547Ala, NP_001337555.1:p.Pro547Ala, NP_001337556.1:p.Pro372Ala, XP_011513486.1:p.Pro400Ala, XP_011513479.1:p.Pro575Ala, XP_011513481.1:p.Pro574Ala, XP_011513483.1:p.Pro575Ala, XP_011513480.1:p.Pro575Ala, XP_016867323.1:p.Pro546Ala, XP_024302450.1:p.Pro99Ala, XP_047275984.1:p.Pro546Ala, XP_047275986.1:p.Pro400Ala, XP_047275987.1:p.Pro372Ala

                      11.

                      rs1480099570 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        7:2541029 (GRCh38)
                        7:2580663 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:2541028:C:A
                        Gene:
                        BRAT1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000007.14:g.2541029C>A, NC_000007.13:g.2580663C>A, NG_032167.1:g.19730G>T, NM_152743.4:c.1345G>T, NM_152743.3:c.1345G>T, NM_001350626.2:c.1345G>T, NM_001350626.1:c.1345G>T, NR_146879.2:n.1404G>T, NR_146879.1:n.1638G>T, NM_001350627.2:c.820G>T, NM_001350627.1:c.820G>T, XM_011515184.4:c.820G>T, XM_011515184.3:c.820G>T, XM_011515184.2:c.820G>T, XM_011515184.1:c.820G>T, XM_011515177.3:c.1345G>T, XM_011515177.2:c.1345G>T, XM_011515177.1:c.1345G>T, XM_011515179.3:c.1342G>T, XM_011515179.2:c.1342G>T, XM_011515179.1:c.1342G>T, XM_011515181.3:c.1345G>T, XM_011515181.2:c.1345G>T, XM_011515181.1:c.1345G>T, XM_011515186.3:c.1345G>T, XM_011515186.2:c.1345G>T, XM_011515186.1:c.1345G>T, XM_017011836.3:c.1345G>T, XM_017011836.2:c.1345G>T, XM_017011836.1:c.1345G>T, XM_011515178.2:c.1345G>T, XM_011515178.1:c.1345G>T, XM_017011834.2:c.1342G>T, XM_017011834.1:c.1342G>T, XM_047420028.1:c.1342G>T, XM_047420030.1:c.820G>T, XM_047420032.1:c.1342G>T, XM_047420031.1:c.820G>T, XM_047420033.1:c.1342G>T, XM_047420034.1:c.1345G>T, XM_047420035.1:c.1345G>T, XM_047420036.1:c.1345G>T, NP_689956.2:p.Ala449Ser, NP_001337555.1:p.Ala449Ser, NP_001337556.1:p.Ala274Ser, XP_011513486.1:p.Ala274Ser, XP_011513479.1:p.Ala449Ser, XP_011513481.1:p.Ala448Ser, XP_011513483.1:p.Ala449Ser, XP_011513488.1:p.Ala449Ser, XP_016867325.1:p.Ala449Ser, XP_011513480.1:p.Ala449Ser, XP_016867323.1:p.Ala448Ser, XP_047275984.1:p.Ala448Ser, XP_047275986.1:p.Ala274Ser, XP_047275988.1:p.Ala448Ser, XP_047275987.1:p.Ala274Ser, XP_047275989.1:p.Ala448Ser, XP_047275990.1:p.Ala449Ser, XP_047275991.1:p.Ala449Ser, XP_047275992.1:p.Ala449Ser

                        12.

                        rs1476010977 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          7:2554394 (GRCh38)
                          7:2594028 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:2554393:C:A,NC_000007.14:2554393:C:G
                          Gene:
                          BRAT1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0./0 (GnomAD)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000004/1 (TOPMED)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000007.14:g.2554394C>A, NC_000007.14:g.2554394C>G, NC_000007.13:g.2594028C>A, NC_000007.13:g.2594028C>G, NG_032167.1:g.6365G>T, NG_032167.1:g.6365G>C, NM_152743.4:c.38G>T, NM_152743.4:c.38G>C, NM_152743.3:c.38G>T, NM_152743.3:c.38G>C, NM_001350626.2:c.38G>T, NM_001350626.2:c.38G>C, NM_001350626.1:c.38G>T, NM_001350626.1:c.38G>C, NR_146879.2:n.97G>T, NR_146879.2:n.97G>C, NR_146879.1:n.331G>T, NR_146879.1:n.331G>C, NM_001350627.2:c.-340G>T, NM_001350627.2:c.-340G>C, NM_001350627.1:c.-340G>T, NM_001350627.1:c.-340G>C, XM_011515184.4:c.-547G>T, XM_011515184.4:c.-547G>C, XM_011515184.3:c.-547G>T, XM_011515184.3:c.-547G>C, XM_011515184.2:c.-547G>T, XM_011515184.2:c.-547G>C, XM_011515177.3:c.38G>T, XM_011515177.3:c.38G>C, XM_011515177.2:c.38G>T, XM_011515177.2:c.38G>C, XM_011515177.1:c.38G>T, XM_011515177.1:c.38G>C, XM_011515179.3:c.38G>T, XM_011515179.3:c.38G>C, XM_011515179.2:c.38G>T, XM_011515179.2:c.38G>C, XM_011515179.1:c.38G>T, XM_011515179.1:c.38G>C, XM_011515181.3:c.38G>T, XM_011515181.3:c.38G>C, XM_011515181.2:c.38G>T, XM_011515181.2:c.38G>C, XM_011515181.1:c.38G>T, XM_011515181.1:c.38G>C, XM_011515186.3:c.38G>T, XM_011515186.3:c.38G>C, XM_011515186.2:c.38G>T, XM_011515186.2:c.38G>C, XM_011515186.1:c.38G>T, XM_011515186.1:c.38G>C, XM_017011836.3:c.38G>T, XM_017011836.3:c.38G>C, XM_017011836.2:c.38G>T, XM_017011836.2:c.38G>C, XM_017011836.1:c.38G>T, XM_017011836.1:c.38G>C, XM_011515178.2:c.38G>T, XM_011515178.2:c.38G>C, XM_011515178.1:c.38G>T, XM_011515178.1:c.38G>C, XM_017011834.2:c.38G>T, XM_017011834.2:c.38G>C, XM_017011834.1:c.38G>T, XM_017011834.1:c.38G>C, XM_047420028.1:c.38G>T, XM_047420028.1:c.38G>C, XM_047420030.1:c.-399G>T, XM_047420030.1:c.-399G>C, XM_047420032.1:c.38G>T, XM_047420032.1:c.38G>C, XM_047420031.1:c.-399G>T, XM_047420031.1:c.-399G>C, XM_047420033.1:c.38G>T, XM_047420033.1:c.38G>C, XM_047420034.1:c.38G>T, XM_047420034.1:c.38G>C, XM_047420035.1:c.38G>T, XM_047420035.1:c.38G>C, XM_047420036.1:c.38G>T, XM_047420036.1:c.38G>C, NP_689956.2:p.Cys13Phe, NP_689956.2:p.Cys13Ser, NP_001337555.1:p.Cys13Phe, NP_001337555.1:p.Cys13Ser, XP_011513479.1:p.Cys13Phe, XP_011513479.1:p.Cys13Ser, XP_011513481.1:p.Cys13Phe, XP_011513481.1:p.Cys13Ser, XP_011513483.1:p.Cys13Phe, XP_011513483.1:p.Cys13Ser, XP_011513488.1:p.Cys13Phe, XP_011513488.1:p.Cys13Ser, XP_016867325.1:p.Cys13Phe, XP_016867325.1:p.Cys13Ser, XP_011513480.1:p.Cys13Phe, XP_011513480.1:p.Cys13Ser, XP_016867323.1:p.Cys13Phe, XP_016867323.1:p.Cys13Ser, XP_047275984.1:p.Cys13Phe, XP_047275984.1:p.Cys13Ser, XP_047275988.1:p.Cys13Phe, XP_047275988.1:p.Cys13Ser, XP_047275989.1:p.Cys13Phe, XP_047275989.1:p.Cys13Ser, XP_047275990.1:p.Cys13Phe, XP_047275990.1:p.Cys13Ser, XP_047275991.1:p.Cys13Phe, XP_047275991.1:p.Cys13Ser, XP_047275992.1:p.Cys13Phe, XP_047275992.1:p.Cys13Ser

                          13.

                          rs1473464429 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:2538896 (GRCh38)
                            7:2578530 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:2538895:C:T
                            Gene:
                            BRAT1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000083/22 (TOPMED)
                            T=0.000093/13 (GnomAD)
                            HGVS:

                            14.

                            rs1473096577 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              7:2538819 (GRCh38)
                              7:2578453 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:2538818:C:T
                              Gene:
                              BRAT1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000019/5 (TOPMED)
                              HGVS:

                              15.

                              rs1471856951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                7:2543741 (GRCh38)
                                7:2583375 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:2543740:G:C
                                Gene:
                                BRAT1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000012/3 (GnomAD_exomes)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000007.14:g.2543741G>C, NC_000007.13:g.2583375G>C, NG_032167.1:g.17018C>G, NM_152743.4:c.652C>G, NM_152743.3:c.652C>G, NM_001350626.2:c.652C>G, NM_001350626.1:c.652C>G, NR_146879.2:n.711C>G, NR_146879.1:n.945C>G, NM_001350627.2:c.127C>G, NM_001350627.1:c.127C>G, XM_011515184.4:c.127C>G, XM_011515184.3:c.127C>G, XM_011515184.2:c.127C>G, XM_011515184.1:c.127C>G, XM_011515177.3:c.652C>G, XM_011515177.2:c.652C>G, XM_011515177.1:c.652C>G, XM_011515179.3:c.649C>G, XM_011515179.2:c.649C>G, XM_011515179.1:c.649C>G, XM_011515181.3:c.652C>G, XM_011515181.2:c.652C>G, XM_011515181.1:c.652C>G, XM_011515186.3:c.652C>G, XM_011515186.2:c.652C>G, XM_011515186.1:c.652C>G, XM_017011836.3:c.652C>G, XM_017011836.2:c.652C>G, XM_017011836.1:c.652C>G, XM_011515178.2:c.652C>G, XM_011515178.1:c.652C>G, XM_017011834.2:c.649C>G, XM_017011834.1:c.649C>G, XM_047420028.1:c.649C>G, XM_047420030.1:c.127C>G, XM_047420032.1:c.649C>G, XM_047420031.1:c.127C>G, XM_047420033.1:c.649C>G, XM_047420034.1:c.652C>G, XM_047420035.1:c.652C>G, XM_047420036.1:c.652C>G, NP_689956.2:p.Leu218Val, NP_001337555.1:p.Leu218Val, NP_001337556.1:p.Leu43Val, XP_011513486.1:p.Leu43Val, XP_011513479.1:p.Leu218Val, XP_011513481.1:p.Leu217Val, XP_011513483.1:p.Leu218Val, XP_011513488.1:p.Leu218Val, XP_016867325.1:p.Leu218Val, XP_011513480.1:p.Leu218Val, XP_016867323.1:p.Leu217Val, XP_047275984.1:p.Leu217Val, XP_047275986.1:p.Leu43Val, XP_047275988.1:p.Leu217Val, XP_047275987.1:p.Leu43Val, XP_047275989.1:p.Leu217Val, XP_047275990.1:p.Leu218Val, XP_047275991.1:p.Leu218Val, XP_047275992.1:p.Leu218Val

                                16.

                                rs1471653982 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  7:2539818 (GRCh38)
                                  7:2579452 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:2539817:T:A
                                  Gene:
                                  BRAT1 (Varview)
                                  Functional Consequence:
                                  stop_lost,3_prime_UTR_variant,coding_sequence_variant,terminator_codon_variant,non_coding_transcript_variant,missense_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000008/2 (GnomAD_exomes)
                                  A=0.000071/1 (TOMMO)
                                  A=0.000156/1 (1000Genomes)
                                  HGVS:
                                  NC_000007.14:g.2539818T>A, NC_000007.13:g.2579452T>A, NG_032167.1:g.20941A>T, NM_152743.4:c.1466A>T, NM_152743.3:c.1466A>T, NM_001350626.2:c.1466A>T, NM_001350626.1:c.1466A>T, NR_146879.2:n.1649A>T, NR_146879.1:n.1883A>T, NM_001350627.2:c.941A>T, NM_001350627.1:c.941A>T, XM_011515184.4:c.1025A>T, XM_011515184.3:c.1025A>T, XM_011515184.2:c.1025A>T, XM_011515184.1:c.1025A>T, XM_011515177.3:c.1550A>T, XM_011515177.2:c.1550A>T, XM_011515177.1:c.1550A>T, XM_011515179.3:c.1547A>T, XM_011515179.2:c.1547A>T, XM_011515179.1:c.1547A>T, XM_011515181.3:c.1550A>T, XM_011515181.2:c.1550A>T, XM_011515181.1:c.1550A>T, XM_011515186.3:c.1550A>T, XM_011515186.2:c.1550A>T, XM_011515186.1:c.1550A>T, XM_017011836.3:c.1466A>T, XM_017011836.2:c.1466A>T, XM_017011836.1:c.1466A>T, XM_011515178.2:c.1550A>T, XM_011515178.1:c.1550A>T, XM_017011834.2:c.1463A>T, XM_017011834.1:c.1463A>T, XM_024446682.2:c.122A>T, XM_024446682.1:c.122A>T, XM_047420028.1:c.1463A>T, XM_047420030.1:c.1025A>T, XM_047420032.1:c.1547A>T, XM_047420031.1:c.941A>T, XM_047420033.1:c.1463A>T, XM_047420034.1:c.1590A>T, XM_047420035.1:c.*64A>T, XM_047420036.1:c.1485A>T, NP_689956.2:p.Asp489Val, NP_001337555.1:p.Asp489Val, NP_001337556.1:p.Asp314Val, XP_011513486.1:p.Asp342Val, XP_011513479.1:p.Asp517Val, XP_011513481.1:p.Asp516Val, XP_011513483.1:p.Asp517Val, XP_011513488.1:p.Asp517Val, XP_016867325.1:p.Asp489Val, XP_011513480.1:p.Asp517Val, XP_016867323.1:p.Asp488Val, XP_024302450.1:p.Asp41Val, XP_047275984.1:p.Asp488Val, XP_047275986.1:p.Asp342Val, XP_047275988.1:p.Asp516Val, XP_047275987.1:p.Asp314Val, XP_047275989.1:p.Asp488Val, XP_047275990.1:p.Ter530Cys, XP_047275992.1:p.Ter495Cys

                                  17.

                                  rs1471623631 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    7:2539207 (GRCh38)
                                    7:2578841 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:2539206:G:A,NC_000007.14:2539206:G:C
                                    Gene:
                                    BRAT1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.00004/1 (TOMMO)
                                    HGVS:
                                    NC_000007.14:g.2539207G>A, NC_000007.14:g.2539207G>C, NC_000007.13:g.2578841G>A, NC_000007.13:g.2578841G>C, NG_032167.1:g.21552C>T, NG_032167.1:g.21552C>G, NM_152743.4:c.1742C>T, NM_152743.4:c.1742C>G, NM_152743.3:c.1742C>T, NM_152743.3:c.1742C>G, NM_001350626.2:c.1742C>T, NM_001350626.2:c.1742C>G, NM_001350626.1:c.1742C>T, NM_001350626.1:c.1742C>G, NR_146879.2:n.1925C>T, NR_146879.2:n.1925C>G, NR_146879.1:n.2159C>T, NR_146879.1:n.2159C>G, NM_001350627.2:c.1217C>T, NM_001350627.2:c.1217C>G, NM_001350627.1:c.1217C>T, NM_001350627.1:c.1217C>G, XM_011515184.4:c.1301C>T, XM_011515184.4:c.1301C>G, XM_011515184.3:c.1301C>T, XM_011515184.3:c.1301C>G, XM_011515184.2:c.1301C>T, XM_011515184.2:c.1301C>G, XM_011515184.1:c.1301C>T, XM_011515184.1:c.1301C>G, XM_011515177.3:c.1826C>T, XM_011515177.3:c.1826C>G, XM_011515177.2:c.1826C>T, XM_011515177.2:c.1826C>G, XM_011515177.1:c.1826C>T, XM_011515177.1:c.1826C>G, XM_011515179.3:c.1823C>T, XM_011515179.3:c.1823C>G, XM_011515179.2:c.1823C>T, XM_011515179.2:c.1823C>G, XM_011515179.1:c.1823C>T, XM_011515179.1:c.1823C>G, XM_011515181.3:c.1826C>T, XM_011515181.3:c.1826C>G, XM_011515181.2:c.1826C>T, XM_011515181.2:c.1826C>G, XM_011515181.1:c.1826C>T, XM_011515181.1:c.1826C>G, XM_011515178.2:c.1826C>T, XM_011515178.2:c.1826C>G, XM_011515178.1:c.1826C>T, XM_011515178.1:c.1826C>G, XM_017011834.2:c.1739C>T, XM_017011834.2:c.1739C>G, XM_017011834.1:c.1739C>T, XM_017011834.1:c.1739C>G, XM_024446682.2:c.398C>T, XM_024446682.2:c.398C>G, XM_024446682.1:c.398C>T, XM_024446682.1:c.398C>G, XM_047420028.1:c.1739C>T, XM_047420028.1:c.1739C>G, XM_047420030.1:c.1301C>T, XM_047420030.1:c.1301C>G, XM_047420031.1:c.1217C>T, XM_047420031.1:c.1217C>G, NP_689956.2:p.Thr581Ile, NP_689956.2:p.Thr581Ser, NP_001337555.1:p.Thr581Ile, NP_001337555.1:p.Thr581Ser, NP_001337556.1:p.Thr406Ile, NP_001337556.1:p.Thr406Ser, XP_011513486.1:p.Thr434Ile, XP_011513486.1:p.Thr434Ser, XP_011513479.1:p.Thr609Ile, XP_011513479.1:p.Thr609Ser, XP_011513481.1:p.Thr608Ile, XP_011513481.1:p.Thr608Ser, XP_011513483.1:p.Thr609Ile, XP_011513483.1:p.Thr609Ser, XP_011513480.1:p.Thr609Ile, XP_011513480.1:p.Thr609Ser, XP_016867323.1:p.Thr580Ile, XP_016867323.1:p.Thr580Ser, XP_024302450.1:p.Thr133Ile, XP_024302450.1:p.Thr133Ser, XP_047275984.1:p.Thr580Ile, XP_047275984.1:p.Thr580Ser, XP_047275986.1:p.Thr434Ile, XP_047275986.1:p.Thr434Ser, XP_047275987.1:p.Thr406Ile, XP_047275987.1:p.Thr406Ser

                                    18.

                                    rs1471483570 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      7:2541307 (GRCh38)
                                      7:2580941 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:2541306:G:A,NC_000007.14:2541306:G:C
                                      Gene:
                                      BRAT1 (Varview)
                                      Functional Consequence:
                                      stop_gained,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000007.14:g.2541307G>A, NC_000007.14:g.2541307G>C, NC_000007.13:g.2580941G>A, NC_000007.13:g.2580941G>C, NG_032167.1:g.19452C>T, NG_032167.1:g.19452C>G, NM_152743.4:c.1312C>T, NM_152743.4:c.1312C>G, NM_152743.3:c.1312C>T, NM_152743.3:c.1312C>G, NM_001350626.2:c.1312C>T, NM_001350626.2:c.1312C>G, NM_001350626.1:c.1312C>T, NM_001350626.1:c.1312C>G, NR_146879.2:n.1371C>T, NR_146879.2:n.1371C>G, NR_146879.1:n.1605C>T, NR_146879.1:n.1605C>G, NM_001350627.2:c.787C>T, NM_001350627.2:c.787C>G, NM_001350627.1:c.787C>T, NM_001350627.1:c.787C>G, XM_011515184.4:c.787C>T, XM_011515184.4:c.787C>G, XM_011515184.3:c.787C>T, XM_011515184.3:c.787C>G, XM_011515184.2:c.787C>T, XM_011515184.2:c.787C>G, XM_011515184.1:c.787C>T, XM_011515184.1:c.787C>G, XM_011515177.3:c.1312C>T, XM_011515177.3:c.1312C>G, XM_011515177.2:c.1312C>T, XM_011515177.2:c.1312C>G, XM_011515177.1:c.1312C>T, XM_011515177.1:c.1312C>G, XM_011515179.3:c.1309C>T, XM_011515179.3:c.1309C>G, XM_011515179.2:c.1309C>T, XM_011515179.2:c.1309C>G, XM_011515179.1:c.1309C>T, XM_011515179.1:c.1309C>G, XM_011515181.3:c.1312C>T, XM_011515181.3:c.1312C>G, XM_011515181.2:c.1312C>T, XM_011515181.2:c.1312C>G, XM_011515181.1:c.1312C>T, XM_011515181.1:c.1312C>G, XM_011515186.3:c.1312C>T, XM_011515186.3:c.1312C>G, XM_011515186.2:c.1312C>T, XM_011515186.2:c.1312C>G, XM_011515186.1:c.1312C>T, XM_011515186.1:c.1312C>G, XM_017011836.3:c.1312C>T, XM_017011836.3:c.1312C>G, XM_017011836.2:c.1312C>T, XM_017011836.2:c.1312C>G, XM_017011836.1:c.1312C>T, XM_017011836.1:c.1312C>G, XM_011515178.2:c.1312C>T, XM_011515178.2:c.1312C>G, XM_011515178.1:c.1312C>T, XM_011515178.1:c.1312C>G, XM_017011834.2:c.1309C>T, XM_017011834.2:c.1309C>G, XM_017011834.1:c.1309C>T, XM_017011834.1:c.1309C>G, XM_047420028.1:c.1309C>T, XM_047420028.1:c.1309C>G, XM_047420030.1:c.787C>T, XM_047420030.1:c.787C>G, XM_047420032.1:c.1309C>T, XM_047420032.1:c.1309C>G, XM_047420031.1:c.787C>T, XM_047420031.1:c.787C>G, XM_047420033.1:c.1309C>T, XM_047420033.1:c.1309C>G, XM_047420034.1:c.1312C>T, XM_047420034.1:c.1312C>G, XM_047420035.1:c.1312C>T, XM_047420035.1:c.1312C>G, XM_047420036.1:c.1312C>T, XM_047420036.1:c.1312C>G, NP_689956.2:p.Gln438Ter, NP_689956.2:p.Gln438Glu, NP_001337555.1:p.Gln438Ter, NP_001337555.1:p.Gln438Glu, NP_001337556.1:p.Gln263Ter, NP_001337556.1:p.Gln263Glu, XP_011513486.1:p.Gln263Ter, XP_011513486.1:p.Gln263Glu, XP_011513479.1:p.Gln438Ter, XP_011513479.1:p.Gln438Glu, XP_011513481.1:p.Gln437Ter, XP_011513481.1:p.Gln437Glu, XP_011513483.1:p.Gln438Ter, XP_011513483.1:p.Gln438Glu, XP_011513488.1:p.Gln438Ter, XP_011513488.1:p.Gln438Glu, XP_016867325.1:p.Gln438Ter, XP_016867325.1:p.Gln438Glu, XP_011513480.1:p.Gln438Ter, XP_011513480.1:p.Gln438Glu, XP_016867323.1:p.Gln437Ter, XP_016867323.1:p.Gln437Glu, XP_047275984.1:p.Gln437Ter, XP_047275984.1:p.Gln437Glu, XP_047275986.1:p.Gln263Ter, XP_047275986.1:p.Gln263Glu, XP_047275988.1:p.Gln437Ter, XP_047275988.1:p.Gln437Glu, XP_047275987.1:p.Gln263Ter, XP_047275987.1:p.Gln263Glu, XP_047275989.1:p.Gln437Ter, XP_047275989.1:p.Gln437Glu, XP_047275990.1:p.Gln438Ter, XP_047275990.1:p.Gln438Glu, XP_047275991.1:p.Gln438Ter, XP_047275991.1:p.Gln438Glu, XP_047275992.1:p.Gln438Ter, XP_047275992.1:p.Gln438Glu

                                      19.

                                      rs1471427811 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:2544940 (GRCh38)
                                        7:2584574 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:2544939:G:A
                                        Gene:
                                        BRAT1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.2544940G>A, NC_000007.13:g.2584574G>A, NG_032167.1:g.15819C>T, NM_152743.4:c.399C>T, NM_152743.3:c.399C>T, NM_001350626.2:c.399C>T, NM_001350626.1:c.399C>T, NR_146879.2:n.458C>T, NR_146879.1:n.692C>T, XM_011515184.4:c.-127C>T, XM_011515184.3:c.-127C>T, XM_011515184.2:c.-127C>T, XM_011515184.1:c.-127C>T, XM_011515177.3:c.399C>T, XM_011515177.2:c.399C>T, XM_011515177.1:c.399C>T, XM_011515179.3:c.396C>T, XM_011515179.2:c.396C>T, XM_011515179.1:c.396C>T, XM_011515181.3:c.399C>T, XM_011515181.2:c.399C>T, XM_011515181.1:c.399C>T, XM_011515186.3:c.399C>T, XM_011515186.2:c.399C>T, XM_011515186.1:c.399C>T, XM_017011836.3:c.399C>T, XM_017011836.2:c.399C>T, XM_017011836.1:c.399C>T, XM_011515178.2:c.399C>T, XM_011515178.1:c.399C>T, XM_017011834.2:c.396C>T, XM_017011834.1:c.396C>T, XM_047420028.1:c.396C>T, XM_047420032.1:c.396C>T, XM_047420033.1:c.396C>T, XM_047420034.1:c.399C>T, XM_047420035.1:c.399C>T, XM_047420036.1:c.399C>T

                                        20.

                                        rs1471229077 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          7:2538315 (GRCh38)
                                          7:2577949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:2538314:C:G
                                          Gene:
                                          BRAT1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.2538315C>G, NC_000007.13:g.2577949C>G, NG_032167.1:g.22444G>C, NM_152743.4:c.2220G>C, NM_152743.3:c.2220G>C, NM_001350626.2:c.2400G>C, NM_001350626.1:c.2400G>C, NR_146879.2:n.2403G>C, NR_146879.1:n.2637G>C, NM_001350627.2:c.1695G>C, NM_001350627.1:c.1695G>C, XM_011515184.4:c.1959G>C, XM_011515184.3:c.1959G>C, XM_011515184.2:c.1959G>C, XM_011515184.1:c.1959G>C, XM_011515177.3:c.2484G>C, XM_011515177.2:c.2484G>C, XM_011515177.1:c.2484G>C, XM_011515179.3:c.2481G>C, XM_011515179.2:c.2481G>C, XM_011515179.1:c.2481G>C, XM_011515181.3:c.2304G>C, XM_011515181.2:c.2304G>C, XM_011515181.1:c.2304G>C, XM_011515186.3:c.*367G>C, XM_011515186.2:c.*367G>C, XM_017011836.3:c.*367G>C, XM_017011836.2:c.*367G>C, XM_017011836.1:c.*367G>C, XM_011515178.2:c.2484G>C, XM_011515178.1:c.2484G>C, XM_017011834.2:c.2217G>C, XM_017011834.1:c.2217G>C, XM_024446682.2:c.1056G>C, XM_024446682.1:c.1056G>C, XM_047420028.1:c.2397G>C, XM_047420030.1:c.1959G>C, XM_047420032.1:c.*367G>C, XM_047420031.1:c.1695G>C, XM_047420033.1:c.*367G>C, NP_689956.2:p.Arg740Ser, NP_001337555.1:p.Arg800Ser, NP_001337556.1:p.Arg565Ser, XP_011513486.1:p.Arg653Ser, XP_011513479.1:p.Arg828Ser, XP_011513481.1:p.Arg827Ser, XP_011513483.1:p.Arg768Ser, XP_011513480.1:p.Arg828Ser, XP_016867323.1:p.Arg739Ser, XP_024302450.1:p.Arg352Ser, XP_047275984.1:p.Arg799Ser, XP_047275986.1:p.Arg653Ser, XP_047275987.1:p.Arg565Ser

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