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2.

rs1490914137 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    6:31665679 (GRCh38)
    6:31633456 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31665678:G:A,NC_000006.12:31665678:G:C
    Gene:
    CSNK2B (Varview), GPANK1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000026/7 (TOPMED)
    A=0.000029/4 (GnomAD)
    C=0.000035/1 (TOMMO)
    HGVS:
    NC_000006.12:g.31665679G>A, NC_000006.12:g.31665679G>C, NC_000006.11:g.31633456G>A, NC_000006.11:g.31633456G>C, NT_113891.3:g.3142970G>A, NT_113891.3:g.3142970G>C, NT_113891.2:g.3143076G>A, NT_113891.2:g.3143076G>C, NT_167248.2:g.2921503G>A, NT_167248.2:g.2921503G>C, NT_167248.1:g.2927099G>A, NT_167248.1:g.2927099G>C, NT_167245.2:g.2913450G>A, NT_167245.2:g.2913450G>C, NT_167245.1:g.2919035G>A, NT_167245.1:g.2919035G>C, NT_167249.2:g.2964963G>A, NT_167249.2:g.2964963G>C, NT_167249.1:g.2964261G>A, NT_167249.1:g.2964261G>C, NT_167246.2:g.2970726G>A, NT_167246.2:g.2970726G>C, NT_167246.1:g.2976346G>A, NT_167246.1:g.2976346G>C, NT_167247.2:g.3007551G>A, NT_167247.2:g.3007551G>C, NT_167247.1:g.3013136G>A, NT_167247.1:g.3013136G>C, XM_011514909.2:c.-855C>T, XM_011514909.2:c.-855C>G, XM_011514910.2:c.-852C>T, XM_011514910.2:c.-852C>G, XM_006715204.2:c.-847C>T, XM_006715204.2:c.-847C>G, XM_047419350.1:c.-850C>T, XM_047419350.1:c.-850C>G, NM_001199238.1:c.-371C>T, NM_001199238.1:c.-371C>G, NM_001199239.1:c.-368C>T, NM_001199239.1:c.-368C>G
    4.

    rs1489500244 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      6:31666381 (GRCh38)
      6:31634158 (GRCh37)
      Canonical SPDI:
      NC_000006.12:31666380:C:A
      Gene:
      CSNK2B (Varview), GPANK1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      5.

      rs1489472373 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:31667214 (GRCh38)
        6:31634991 (GRCh37)
        Canonical SPDI:
        NC_000006.12:31667213:C:T
        Gene:
        CSNK2B (Varview), GPANK1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        6.

        rs1489472235 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>-,CC [Show Flanks]
          Chromosome:
          6:31664077 (GRCh38)
          6:31631854 (GRCh37)
          Canonical SPDI:
          NC_000006.12:31664076:CCCCCC:CCCCC,NC_000006.12:31664076:CCCCCC:CCCCCCC
          Gene:
          CSNK2B (Varview), GPANK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCC=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.31664082del, NC_000006.12:g.31664082dup, NC_000006.11:g.31631859del, NC_000006.11:g.31631859dup, NT_113891.3:g.3141373del, NT_113891.3:g.3141373dup, NT_113891.2:g.3141479del, NT_113891.2:g.3141479dup, NT_167248.2:g.2919906del, NT_167248.2:g.2919906dup, NT_167248.1:g.2925502del, NT_167248.1:g.2925502dup, NT_167245.2:g.2911853del, NT_167245.2:g.2911853dup, NT_167245.1:g.2917438del, NT_167245.1:g.2917438dup, NT_167249.2:g.2963366del, NT_167249.2:g.2963366dup, NT_167249.1:g.2962664del, NT_167249.1:g.2962664dup, NT_167246.2:g.2969129del, NT_167246.2:g.2969129dup, NT_167246.1:g.2974749del, NT_167246.1:g.2974749dup, NT_167247.2:g.3005954del, NT_167247.2:g.3005954dup, NT_167247.1:g.3011539del, NT_167247.1:g.3011539dup, XM_005249403.4:c.402del, XM_005249403.4:c.402dup, XM_005249403.3:c.402del, XM_005249403.3:c.402dup, XM_005249403.2:c.402del, XM_005249403.2:c.402dup, XM_005249403.1:c.402del, XM_005249403.1:c.402dup, NM_033177.4:c.402del, NM_033177.4:c.402dup, NM_033177.3:c.402del, NM_033177.3:c.402dup, XM_011514909.2:c.402del, XM_011514909.2:c.402dup, XM_011514909.1:c.402del, XM_011514909.1:c.402dup, XM_011514910.2:c.402del, XM_011514910.2:c.402dup, XM_011514910.1:c.402del, XM_011514910.1:c.402dup, XM_024446549.2:c.402del, XM_024446549.2:c.402dup, XM_024446549.1:c.402del, XM_024446549.1:c.402dup, XM_047419350.1:c.402del, XM_047419350.1:c.402dup, NM_001199237.1:c.402del, NM_001199237.1:c.402dup, NM_001199238.1:c.402del, NM_001199238.1:c.402dup, NM_001199239.1:c.402del, NM_001199239.1:c.402dup, NM_001199240.1:c.402del, NM_001199240.1:c.402dup, XM_047419351.1:c.402del, XM_047419351.1:c.402dup, XM_006715204.2:c.402del, XM_006715204.2:c.402dup, XM_006715204.1:c.402del, XM_006715204.1:c.402dup, XP_005249460.1:p.Asn135fs, XP_005249460.1:p.Asn135fs, NP_149417.1:p.Asn135fs, NP_149417.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_006715267.1:p.Asn135fs, XP_006715267.1:p.Asn135fs
          7.

          rs1489348633 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            6:31670491 (GRCh38)
            6:31638268 (GRCh37)
            Canonical SPDI:
            NC_000006.12:31670490:C:A
            Gene:
            CSNK2B (Varview), LY6G5B (Varview)
            Functional Consequence:
            downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            9.

            rs1488802786 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              6:31666760 (GRCh38)
              6:31634537 (GRCh37)
              Canonical SPDI:
              NC_000006.12:31666759:G:C
              Gene:
              CSNK2B (Varview), GPANK1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000671/3 (ALFA)
              C=0.000014/2 (GnomAD)
              C=0.00067/3 (Estonian)
              HGVS:
              10.

              rs1488503120 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                6:31664431 (GRCh38)
                6:31632208 (GRCh37)
                Canonical SPDI:
                NC_000006.12:31664430:G:C
                Gene:
                CSNK2B (Varview), GPANK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.31664431G>C, NC_000006.11:g.31632208G>C, NT_113891.3:g.3141722G>C, NT_113891.2:g.3141828G>C, NT_167248.2:g.2920255G>C, NT_167248.1:g.2925851G>C, NT_167245.2:g.2912202G>C, NT_167245.1:g.2917787G>C, NT_167249.2:g.2963715G>C, NT_167249.1:g.2963013G>C, NT_167246.2:g.2969478G>C, NT_167246.1:g.2975098G>C, NT_167247.2:g.3006303G>C, NT_167247.1:g.3011888G>C, XM_005249403.4:c.48C>G, XM_005249403.3:c.48C>G, XM_005249403.2:c.48C>G, XM_005249403.1:c.48C>G, NM_033177.4:c.48C>G, NM_033177.3:c.48C>G, XM_011514909.2:c.48C>G, XM_011514909.1:c.48C>G, XM_011514910.2:c.48C>G, XM_011514910.1:c.48C>G, XM_006715204.2:c.48C>G, XM_006715204.1:c.48C>G, XM_024446549.2:c.48C>G, XM_024446549.1:c.48C>G, XM_047419350.1:c.48C>G, NM_001199238.1:c.48C>G, NM_001199239.1:c.48C>G, NM_001199240.1:c.48C>G, XM_047419351.1:c.48C>G, NM_001199237.1:c.48C>G, XP_005249460.1:p.Ser16Arg, NP_149417.1:p.Ser16Arg, XP_011513211.1:p.Ser16Arg, XP_011513212.1:p.Ser16Arg, XP_006715267.1:p.Ser16Arg, XP_024302317.1:p.Ser16Arg, XP_047275306.1:p.Ser16Arg, NP_001186167.1:p.Ser16Arg, NP_001186168.1:p.Ser16Arg, NP_001186169.1:p.Ser16Arg, XP_047275307.1:p.Ser16Arg, NP_001186166.1:p.Ser16Arg
                12.

                rs1487709774 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  6:31670020 (GRCh38)
                  6:31637797 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:31670019:G:C
                  Gene:
                  CSNK2B (Varview), LY6G5B (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  13.

                  rs1487666036 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:31665018 (GRCh38)
                    6:31632795 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:31665017:T:C
                    Gene:
                    CSNK2B (Varview), GPANK1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    14.

                    rs1487070342 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:31667171 (GRCh38)
                      6:31634948 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:31667170:A:G
                      Gene:
                      CSNK2B (Varview), GPANK1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by cluster
                      HGVS:
                      15.

                      rs1483963843 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:31667631 (GRCh38)
                        6:31635408 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:31667630:T:C
                        Gene:
                        CSNK2B (Varview), GPANK1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        16.

                        rs1483777698 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          6:31665839 (GRCh38)
                          6:31633616 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:31665838:T:G
                          Gene:
                          CSNK2B (Varview), GPANK1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          18.

                          rs1483534189 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:31666260 (GRCh38)
                            6:31634037 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:31666259:A:G
                            Gene:
                            CSNK2B (Varview), GPANK1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            19.

                            rs1483334654 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:31666561 (GRCh38)
                              6:31634338 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:31666560:G:A
                              Gene:
                              CSNK2B (Varview), GPANK1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:

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