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1.

rs1491558443 has merged into rs10611353 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    22:30374960 (GRCh38)
    22:30770949 (GRCh37)
    Canonical SPDI:
    NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30374954:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    KIAA1656 (Varview), CCDC157 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    -=0.2/8 (GENOME_DK)
    HGVS:
    NC_000022.11:g.30374960_30374977del, NC_000022.11:g.30374963_30374977del, NC_000022.11:g.30374965_30374977del, NC_000022.11:g.30374967_30374977del, NC_000022.11:g.30374969_30374977del, NC_000022.11:g.30374970_30374977del, NC_000022.11:g.30374971_30374977del, NC_000022.11:g.30374972_30374977del, NC_000022.11:g.30374973_30374977del, NC_000022.11:g.30374974_30374977del, NC_000022.11:g.30374975_30374977del, NC_000022.11:g.30374976_30374977del, NC_000022.11:g.30374977del, NC_000022.11:g.30374977dup, NC_000022.11:g.30374976_30374977dup, NC_000022.11:g.30374975_30374977dup, NC_000022.11:g.30374974_30374977dup, NC_000022.11:g.30374973_30374977dup, NC_000022.11:g.30374970_30374977dup, NC_000022.11:g.30374961_30374977dup, NC_000022.10:g.30770949_30770966del, NC_000022.10:g.30770952_30770966del, NC_000022.10:g.30770954_30770966del, NC_000022.10:g.30770956_30770966del, NC_000022.10:g.30770958_30770966del, NC_000022.10:g.30770959_30770966del, NC_000022.10:g.30770960_30770966del, NC_000022.10:g.30770961_30770966del, NC_000022.10:g.30770962_30770966del, NC_000022.10:g.30770963_30770966del, NC_000022.10:g.30770964_30770966del, NC_000022.10:g.30770965_30770966del, NC_000022.10:g.30770966del, NC_000022.10:g.30770966dup, NC_000022.10:g.30770965_30770966dup, NC_000022.10:g.30770964_30770966dup, NC_000022.10:g.30770963_30770966dup, NC_000022.10:g.30770962_30770966dup, NC_000022.10:g.30770959_30770966dup, NC_000022.10:g.30770950_30770966dup, NR_046312.1:n.1444_1461del, NR_046312.1:n.1447_1461del, NR_046312.1:n.1449_1461del, NR_046312.1:n.1451_1461del, NR_046312.1:n.1453_1461del, NR_046312.1:n.1454_1461del, NR_046312.1:n.1455_1461del, NR_046312.1:n.1456_1461del, NR_046312.1:n.1457_1461del, NR_046312.1:n.1458_1461del, NR_046312.1:n.1459_1461del, NR_046312.1:n.1460_1461del, NR_046312.1:n.1461del, NR_046312.1:n.1461dup, NR_046312.1:n.1460_1461dup, NR_046312.1:n.1459_1461dup, NR_046312.1:n.1458_1461dup, NR_046312.1:n.1457_1461dup, NR_046312.1:n.1454_1461dup, NR_046312.1:n.1445_1461dup

    2.

    rs1490784781 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:30370060 (GRCh38)
      22:30766049 (GRCh37)
      Canonical SPDI:
      NC_000022.11:30370059:A:G
      Gene:
      KIAA1656 (Varview), CCDC157 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:

      3.

      rs1490759163 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        22:30369015 (GRCh38)
        22:30765004 (GRCh37)
        Canonical SPDI:
        NC_000022.11:30369014:C:G
        Gene:
        KIAA1656 (Varview), CCDC157 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1490596680 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          22:30368450 (GRCh38)
          22:30764439 (GRCh37)
          Canonical SPDI:
          NC_000022.11:30368449:G:A,NC_000022.11:30368449:G:T
          Gene:
          KIAA1656 (Varview), CCDC157 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1490147030 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:30370919 (GRCh38)
            22:30766908 (GRCh37)
            Canonical SPDI:
            NC_000022.11:30370918:G:A
            Gene:
            KIAA1656 (Varview), CCDC157 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000022.11:g.30370919G>A, NC_000022.10:g.30766908G>A, XM_006724278.5:c.1014G>A, XM_006724278.4:c.1014G>A, XM_006724278.3:c.1014G>A, XM_006724278.2:c.1014G>A, XM_006724278.1:c.1014G>A, XM_006724279.5:c.1014G>A, XM_006724279.4:c.1014G>A, XM_006724279.3:c.1014G>A, XM_006724279.2:c.1014G>A, XM_006724279.1:c.1014G>A, XM_006724280.5:c.1014G>A, XM_006724280.4:c.1014G>A, XM_006724280.3:c.1014G>A, XM_006724280.2:c.1014G>A, XM_006724280.1:c.1014G>A, NM_001017437.5:c.1014G>A, NM_001017437.4:c.1014G>A, NM_001017437.3:c.1014G>A, NM_001017437.2:c.1014G>A, XM_011530263.4:c.1014G>A, XM_011530263.3:c.1014G>A, XM_011530263.2:c.1014G>A, XM_011530263.1:c.1014G>A, XM_011530267.4:c.1014G>A, XM_011530267.3:c.1014G>A, XM_011530267.2:c.1014G>A, XM_011530267.1:c.1014G>A, XM_011530266.4:c.1014G>A, XM_011530266.3:c.1014G>A, XM_011530266.2:c.1014G>A, XM_011530266.1:c.1014G>A, XM_011530268.4:c.1014G>A, XM_011530268.3:c.1014G>A, XM_011530268.2:c.1014G>A, XM_011530268.1:c.1014G>A, XM_011530270.4:c.1014G>A, XM_011530270.3:c.1014G>A, XM_011530270.2:c.1014G>A, XM_011530270.1:c.1014G>A, XM_024452258.2:c.1014G>A, XM_024452258.1:c.1014G>A, NM_001318334.2:c.1014G>A, NM_001318334.1:c.1014G>A, XM_024452259.2:c.741G>A, XM_024452259.1:c.741G>A, NR_046312.1:n.5497C>T, XM_047441442.1:c.1014G>A, XM_047441441.1:c.1014G>A

            6.

            rs1490106297 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->AG
              Chromosome:
              no mapping
              Canonical SPDI:

              7.

              rs1489943927 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                22:30377927 (GRCh38)
                22:30773916 (GRCh37)
                Canonical SPDI:
                NC_000022.11:30377926:G:A,NC_000022.11:30377926:G:C
                Gene:
                KIAA1656 (Varview), CCDC157 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.00055/1 (Korea1K)
                HGVS:
                NC_000022.11:g.30377927G>A, NC_000022.11:g.30377927G>C, NC_000022.10:g.30773916G>A, NC_000022.10:g.30773916G>C, XM_006724278.5:c.*1182G>A, XM_006724278.5:c.*1182G>C, XM_006724279.5:c.*1182G>A, XM_006724279.5:c.*1182G>C, XM_006724280.5:c.*1468G>A, XM_006724280.5:c.*1468G>C, NM_001017437.5:c.*1182G>A, NM_001017437.5:c.*1182G>C, NM_001017437.4:c.*1182G>A, NM_001017437.4:c.*1182G>C, NM_001017437.3:c.*1182G>A, NM_001017437.3:c.*1182G>C, XM_011530263.4:c.*1182G>A, XM_011530263.4:c.*1182G>C, XM_011530269.3:c.*1182G>A, XM_011530269.3:c.*1182G>C, XM_024452258.2:c.*1182G>A, XM_024452258.2:c.*1182G>C, NM_001318334.2:c.*1182G>A, NM_001318334.2:c.*1182G>C, NM_001318334.1:c.*1182G>A, NM_001318334.1:c.*1182G>C, XM_024452259.2:c.*1182G>A, XM_024452259.2:c.*1182G>C, XM_047441442.1:c.*1468G>A, XM_047441442.1:c.*1468G>C

                8.

                rs1489894215 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:30375325 (GRCh38)
                  22:30771314 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:30375324:C:T
                  Gene:
                  KIAA1656 (Varview), CCDC157 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1489805902 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:30369179 (GRCh38)
                    22:30765168 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:30369178:G:A
                    Gene:
                    KIAA1656 (Varview), CCDC157 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1489521397 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:30370627 (GRCh38)
                      22:30766616 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:30370626:T:C
                      Gene:
                      KIAA1656 (Varview), CCDC157 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000022.11:g.30370627T>C, NC_000022.10:g.30766616T>C, XM_006724278.5:c.722T>C, XM_006724278.4:c.722T>C, XM_006724278.3:c.722T>C, XM_006724278.2:c.722T>C, XM_006724278.1:c.722T>C, XM_006724279.5:c.722T>C, XM_006724279.4:c.722T>C, XM_006724279.3:c.722T>C, XM_006724279.2:c.722T>C, XM_006724279.1:c.722T>C, XM_006724280.5:c.722T>C, XM_006724280.4:c.722T>C, XM_006724280.3:c.722T>C, XM_006724280.2:c.722T>C, XM_006724280.1:c.722T>C, NM_001017437.5:c.722T>C, NM_001017437.4:c.722T>C, NM_001017437.3:c.722T>C, NM_001017437.2:c.722T>C, XM_011530263.4:c.722T>C, XM_011530263.3:c.722T>C, XM_011530263.2:c.722T>C, XM_011530263.1:c.722T>C, XM_011530267.4:c.722T>C, XM_011530267.3:c.722T>C, XM_011530267.2:c.722T>C, XM_011530267.1:c.722T>C, XM_011530266.4:c.722T>C, XM_011530266.3:c.722T>C, XM_011530266.2:c.722T>C, XM_011530266.1:c.722T>C, XM_011530268.4:c.722T>C, XM_011530268.3:c.722T>C, XM_011530268.2:c.722T>C, XM_011530268.1:c.722T>C, XM_011530270.4:c.722T>C, XM_011530270.3:c.722T>C, XM_011530270.2:c.722T>C, XM_011530270.1:c.722T>C, XM_024452258.2:c.722T>C, XM_024452258.1:c.722T>C, NM_001318334.2:c.722T>C, NM_001318334.1:c.722T>C, XM_024452259.2:c.449T>C, XM_024452259.1:c.449T>C, NR_046312.1:n.5789A>G, XM_047441442.1:c.722T>C, XM_047441441.1:c.722T>C, XP_006724341.1:p.Leu241Pro, XP_006724342.1:p.Leu241Pro, XP_006724343.1:p.Leu241Pro, NP_001017437.3:p.Leu241Pro, XP_011528565.1:p.Leu241Pro, XP_011528569.1:p.Leu241Pro, XP_011528568.1:p.Leu241Pro, XP_011528570.1:p.Leu241Pro, XP_011528572.1:p.Leu241Pro, XP_024308026.1:p.Leu241Pro, NP_001305263.2:p.Leu241Pro, XP_024308027.1:p.Leu150Pro, XP_047297398.1:p.Leu241Pro, XP_047297397.1:p.Leu241Pro

                      11.

                      rs1489110464 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        22:30379280 (GRCh38)
                        22:30775269 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:30379279:C:A,NC_000022.11:30379279:C:T
                        Gene:
                        KIAA1656 (Varview), RNF215 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1488684559 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:30377056 (GRCh38)
                          22:30773045 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:30377055:G:A
                          Gene:
                          KIAA1656 (Varview), CCDC157 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:

                          13.

                          rs1488627541 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:30370633 (GRCh38)
                            22:30766622 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:30370632:A:G
                            Gene:
                            KIAA1656 (Varview), CCDC157 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000036/5 (GnomAD)
                            G=0.000045/12 (TOPMED)
                            HGVS:
                            NC_000022.11:g.30370633A>G, NC_000022.10:g.30766622A>G, XM_006724278.5:c.728A>G, XM_006724278.4:c.728A>G, XM_006724278.3:c.728A>G, XM_006724278.2:c.728A>G, XM_006724278.1:c.728A>G, XM_006724279.5:c.728A>G, XM_006724279.4:c.728A>G, XM_006724279.3:c.728A>G, XM_006724279.2:c.728A>G, XM_006724279.1:c.728A>G, XM_006724280.5:c.728A>G, XM_006724280.4:c.728A>G, XM_006724280.3:c.728A>G, XM_006724280.2:c.728A>G, XM_006724280.1:c.728A>G, NM_001017437.5:c.728A>G, NM_001017437.4:c.728A>G, NM_001017437.3:c.728A>G, NM_001017437.2:c.728A>G, XM_011530263.4:c.728A>G, XM_011530263.3:c.728A>G, XM_011530263.2:c.728A>G, XM_011530263.1:c.728A>G, XM_011530267.4:c.728A>G, XM_011530267.3:c.728A>G, XM_011530267.2:c.728A>G, XM_011530267.1:c.728A>G, XM_011530266.4:c.728A>G, XM_011530266.3:c.728A>G, XM_011530266.2:c.728A>G, XM_011530266.1:c.728A>G, XM_011530268.4:c.728A>G, XM_011530268.3:c.728A>G, XM_011530268.2:c.728A>G, XM_011530268.1:c.728A>G, XM_011530270.4:c.728A>G, XM_011530270.3:c.728A>G, XM_011530270.2:c.728A>G, XM_011530270.1:c.728A>G, XM_024452258.2:c.728A>G, XM_024452258.1:c.728A>G, NM_001318334.2:c.728A>G, NM_001318334.1:c.728A>G, XM_024452259.2:c.455A>G, XM_024452259.1:c.455A>G, NR_046312.1:n.5783T>C, XM_047441442.1:c.728A>G, XM_047441441.1:c.728A>G, XP_006724341.1:p.Gln243Arg, XP_006724342.1:p.Gln243Arg, XP_006724343.1:p.Gln243Arg, NP_001017437.3:p.Gln243Arg, XP_011528565.1:p.Gln243Arg, XP_011528569.1:p.Gln243Arg, XP_011528568.1:p.Gln243Arg, XP_011528570.1:p.Gln243Arg, XP_011528572.1:p.Gln243Arg, XP_024308026.1:p.Gln243Arg, NP_001305263.2:p.Gln243Arg, XP_024308027.1:p.Gln152Arg, XP_047297398.1:p.Gln243Arg, XP_047297397.1:p.Gln243Arg

                            14.

                            rs1488222999 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:30374091 (GRCh38)
                              22:30770080 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:30374090:G:A
                              Gene:
                              KIAA1656 (Varview), CCDC157 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.30374091G>A, NC_000022.10:g.30770080G>A, XM_006724278.5:c.1672G>A, XM_006724278.4:c.1672G>A, XM_006724278.3:c.1672G>A, XM_006724278.2:c.1672G>A, XM_006724278.1:c.1672G>A, XM_006724279.5:c.1672G>A, XM_006724279.4:c.1672G>A, XM_006724279.3:c.1672G>A, XM_006724279.2:c.1672G>A, XM_006724279.1:c.1672G>A, XM_006724280.5:c.1672G>A, XM_006724280.4:c.1672G>A, XM_006724280.3:c.1672G>A, XM_006724280.2:c.1672G>A, XM_006724280.1:c.1672G>A, NM_001017437.5:c.1672G>A, NM_001017437.4:c.1672G>A, NM_001017437.3:c.1672G>A, NM_001017437.2:c.1672G>A, XM_011530263.4:c.1672G>A, XM_011530263.3:c.1672G>A, XM_011530263.2:c.1672G>A, XM_011530263.1:c.1672G>A, XM_011530267.4:c.1672G>A, XM_011530267.3:c.1672G>A, XM_011530267.2:c.1672G>A, XM_011530267.1:c.1672G>A, XM_011530266.4:c.1672G>A, XM_011530266.3:c.1672G>A, XM_011530266.2:c.1672G>A, XM_011530266.1:c.1672G>A, XM_011530269.3:c.604G>A, XM_011530269.2:c.604G>A, XM_011530269.1:c.604G>A, XM_024452258.2:c.1672G>A, XM_024452258.1:c.1672G>A, NM_001318334.2:c.1672G>A, NM_001318334.1:c.1672G>A, XM_024452259.2:c.1399G>A, XM_024452259.1:c.1399G>A, NR_046312.1:n.2325C>T, XM_047441442.1:c.1672G>A, XM_047441441.1:c.1672G>A, XP_006724341.1:p.Gly558Ser, XP_006724342.1:p.Asp558Asn, XP_006724343.1:p.Ala558Thr, NP_001017437.3:p.Gly558Arg, XP_011528565.1:p.Gly558Ser, XP_011528569.1:p.Gly558Ser, XP_011528568.1:p.Ala558Thr, XP_011528571.1:p.Gly202Ser, XP_024308026.1:p.Gly558Ser, NP_001305263.2:p.Gly558Arg, XP_024308027.1:p.Gly467Ser, XP_047297398.1:p.Ala558Thr, XP_047297397.1:p.Gly558Ser

                              15.

                              rs1488049104 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:30368943 (GRCh38)
                                22:30764932 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:30368942:T:C
                                Gene:
                                KIAA1656 (Varview), CCDC157 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.00007/1 (ALFA)
                                HGVS:

                                16.

                                rs1487914185 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  22:30379797 (GRCh38)
                                  22:30775786 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:30379796:G:C
                                  Gene:
                                  KIAA1656 (Varview), RNF215 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000006/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1487102962 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:30373850 (GRCh38)
                                    22:30769839 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:30373849:G:A
                                    Gene:
                                    KIAA1656 (Varview), CCDC157 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,splice_acceptor_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1486647648 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      22:30376545 (GRCh38)
                                      22:30772534 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:30376544:A:G
                                      Gene:
                                      KIAA1656 (Varview), CCDC157 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.30376545A>G, NC_000022.10:g.30772534A>G, XM_006724278.5:c.2080A>G, XM_006724278.4:c.2080A>G, XM_006724278.3:c.2080A>G, XM_006724278.2:c.2080A>G, XM_006724278.1:c.2080A>G, XM_006724279.5:c.2014A>G, XM_006724279.4:c.2014A>G, XM_006724279.3:c.2014A>G, XM_006724279.2:c.2014A>G, XM_006724279.1:c.2014A>G, XM_006724280.5:c.*86A>G, XM_006724280.4:c.*86A>G, XM_006724280.3:c.*86A>G, XM_006724280.2:c.*86A>G, XM_006724280.1:c.*86A>G, NM_001017437.5:c.2059A>G, NM_001017437.4:c.2059A>G, NM_001017437.3:c.2059A>G, NM_001017437.2:c.2059A>G, XM_011530263.4:c.2080A>G, XM_011530263.3:c.2080A>G, XM_011530263.2:c.2080A>G, XM_011530263.1:c.2080A>G, XM_011530269.3:c.1012A>G, XM_011530269.2:c.1012A>G, XM_011530269.1:c.1012A>G, XM_024452258.2:c.2080A>G, XM_024452258.1:c.2080A>G, NM_001318334.2:c.2059A>G, NM_001318334.1:c.2059A>G, XM_024452259.2:c.1807A>G, XM_024452259.1:c.1807A>G, XM_047441442.1:c.*86A>G, XP_006724341.1:p.Thr694Ala, XP_006724342.1:p.Thr672Ala, NP_001017437.3:p.Thr687Ala, XP_011528565.1:p.Thr694Ala, XP_011528571.1:p.Thr338Ala, XP_024308026.1:p.Thr694Ala, NP_001305263.2:p.Thr687Ala, XP_024308027.1:p.Thr603Ala

                                      19.

                                      rs1486533891 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        22:30377533 (GRCh38)
                                        22:30773522 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:30377532:A:C
                                        Gene:
                                        KIAA1656 (Varview), CCDC157 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1486499894 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          22:30374978 (GRCh38)
                                          22:30770967 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:30374977:G:C,NC_000022.11:30374977:G:T
                                          Gene:
                                          KIAA1656 (Varview), CCDC157 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00145/41 (TOMMO)
                                          HGVS:

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