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Items: 1 to 20 of 1000

1.

rs1491553135 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    6:116521532 (GRCh38)
    6:116842695 (GRCh37)
    Canonical SPDI:
    NC_000006.12:116521530:ACA:A
    Gene:
    CALHM5 (Varview), TRAPPC3L (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.002082/34 (ALFA)
    -=0.000602/10 (TOMMO)
    -=0.0015/209 (GnomAD)
    -=0.001667/1 (NorthernSweden)
    -=0.00203/13 (1000Genomes)
    -=0.008303/32 (ALSPAC)
    -=0.00836/31 (TWINSUK)
    HGVS:

    2.

    rs1491296646 has merged into rs59420398 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA [Show Flanks]
      Chromosome:
      6:116511199 (GRCh38)
      6:116832362 (GRCh37)
      Canonical SPDI:
      NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116511183:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA
      Gene:
      CALHM5 (Varview), TRAPPC3L (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATATATATATA=0./0 (ALFA)
      ATAT=0.3922/1964 (1000Genomes)
      HGVS:
      NC_000006.12:g.116511185TA[7], NC_000006.12:g.116511185TA[8], NC_000006.12:g.116511185TA[10], NC_000006.12:g.116511185TA[11], NC_000006.12:g.116511185TA[12], NC_000006.12:g.116511185TA[13], NC_000006.12:g.116511185TA[14], NC_000006.12:g.116511185TA[15], NC_000006.12:g.116511185TA[16], NC_000006.12:g.116511185TA[17], NC_000006.12:g.116511185TA[18], NC_000006.12:g.116511185TA[19], NC_000006.12:g.116511185TA[20], NC_000006.12:g.116511185TA[21], NC_000006.12:g.116511185TA[22], NC_000006.11:g.116832348TA[7], NC_000006.11:g.116832348TA[8], NC_000006.11:g.116832348TA[10], NC_000006.11:g.116832348TA[11], NC_000006.11:g.116832348TA[12], NC_000006.11:g.116832348TA[13], NC_000006.11:g.116832348TA[14], NC_000006.11:g.116832348TA[15], NC_000006.11:g.116832348TA[16], NC_000006.11:g.116832348TA[17], NC_000006.11:g.116832348TA[18], NC_000006.11:g.116832348TA[19], NC_000006.11:g.116832348TA[20], NC_000006.11:g.116832348TA[21], NC_000006.11:g.116832348TA[22]

      3.

      rs1491107746 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->CTAT
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491085727 has merged into rs59896067 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATGTATATATATATGTATATATATATATATATAT [Show Flanks]
          Chromosome:
          6:116511118 (GRCh38)
          6:116832281 (GRCh37)
          Canonical SPDI:
          NC_000006.12:116511106:TATATATATATATAT:TATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:116511106:TATATATATATATAT:TATATATATATATATATATGTATATATATATGTATATATATATATATATAT
          Gene:
          CALHM5 (Varview), TRAPPC3L (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATAT=0./0 (ALFA)
          TATA=0.1842/7 (GENOME_DK)
          HGVS:

          5.

          rs1490823654 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            6:116511481 (GRCh38)
            6:116832644 (GRCh37)
            Canonical SPDI:
            NC_000006.12:116511480:T:C,NC_000006.12:116511480:T:G
            Gene:
            CALHM5 (Varview), TRAPPC3L (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1490644783 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              6:116510182 (GRCh38)
              6:116831345 (GRCh37)
              Canonical SPDI:
              NC_000006.12:116510181:T:C,NC_000006.12:116510181:T:G
              Gene:
              CALHM5 (Varview), TRAPPC3L (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000029/4 (GnomAD)
              C=0.000035/1 (TOMMO)
              HGVS:

              7.

              rs1489881760 has merged into rs57050552 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TATATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                Chromosome:
                6:116516670 (GRCh38)
                6:116837833 (GRCh37)
                Canonical SPDI:
                NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:116516660:ATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                Gene:
                CALHM5 (Varview), TRAPPC3L (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATATATATATA=0./0 (ALFA)
                HGVS:
                NC_000006.12:g.116516662TA[4], NC_000006.12:g.116516662TA[5], NC_000006.12:g.116516662TA[6], NC_000006.12:g.116516662TA[7], NC_000006.12:g.116516662TA[8], NC_000006.12:g.116516662TA[9], NC_000006.12:g.116516662TA[10], NC_000006.12:g.116516662TA[11], NC_000006.12:g.116516662TA[12], NC_000006.12:g.116516662TA[13], NC_000006.12:g.116516662TA[14], NC_000006.12:g.116516662TA[15], NC_000006.12:g.116516662TA[16], NC_000006.12:g.116516662TA[17], NC_000006.12:g.116516662TA[18], NC_000006.12:g.116516662TA[19], NC_000006.12:g.116516662TA[20], NC_000006.12:g.116516662TA[21], NC_000006.12:g.116516662TA[22], NC_000006.12:g.116516662TA[23], NC_000006.12:g.116516662TA[25], NC_000006.12:g.116516662TA[26], NC_000006.12:g.116516662TA[27], NC_000006.12:g.116516662TA[28], NC_000006.12:g.116516662TA[29], NC_000006.12:g.116516662TA[30], NC_000006.12:g.116516662TA[32], NC_000006.11:g.116837825TA[4], NC_000006.11:g.116837825TA[5], NC_000006.11:g.116837825TA[6], NC_000006.11:g.116837825TA[7], NC_000006.11:g.116837825TA[8], NC_000006.11:g.116837825TA[9], NC_000006.11:g.116837825TA[10], NC_000006.11:g.116837825TA[11], NC_000006.11:g.116837825TA[12], NC_000006.11:g.116837825TA[13], NC_000006.11:g.116837825TA[14], NC_000006.11:g.116837825TA[15], NC_000006.11:g.116837825TA[16], NC_000006.11:g.116837825TA[17], NC_000006.11:g.116837825TA[18], NC_000006.11:g.116837825TA[19], NC_000006.11:g.116837825TA[20], NC_000006.11:g.116837825TA[21], NC_000006.11:g.116837825TA[22], NC_000006.11:g.116837825TA[23], NC_000006.11:g.116837825TA[25], NC_000006.11:g.116837825TA[26], NC_000006.11:g.116837825TA[27], NC_000006.11:g.116837825TA[28], NC_000006.11:g.116837825TA[29], NC_000006.11:g.116837825TA[30], NC_000006.11:g.116837825TA[32], NM_153711.5:c.*673TA[4], NM_153711.5:c.*673TA[5], NM_153711.5:c.*673TA[6], NM_153711.5:c.*673TA[7], NM_153711.5:c.*673TA[8], NM_153711.5:c.*673TA[9], NM_153711.5:c.*673TA[10], NM_153711.5:c.*673TA[11], NM_153711.5:c.*673TA[12], NM_153711.5:c.*673TA[13], NM_153711.5:c.*673TA[14], NM_153711.5:c.*673TA[15], NM_153711.5:c.*673TA[16], NM_153711.5:c.*673TA[17], NM_153711.5:c.*673TA[18], NM_153711.5:c.*673TA[19], NM_153711.5:c.*673TA[20], NM_153711.5:c.*673TA[21], NM_153711.5:c.*673TA[22], NM_153711.5:c.*673TA[23], NM_153711.5:c.*673TA[25], NM_153711.5:c.*673TA[26], NM_153711.5:c.*673TA[27], NM_153711.5:c.*673TA[28], NM_153711.5:c.*673TA[29], NM_153711.5:c.*673TA[30], NM_153711.5:c.*673TA[32], NM_153711.4:c.*673TA[4], NM_153711.4:c.*673TA[5], NM_153711.4:c.*673TA[6], NM_153711.4:c.*673TA[7], NM_153711.4:c.*673TA[8], NM_153711.4:c.*673TA[9], NM_153711.4:c.*673TA[10], NM_153711.4:c.*673TA[11], NM_153711.4:c.*673TA[12], NM_153711.4:c.*673TA[13], NM_153711.4:c.*673TA[14], NM_153711.4:c.*673TA[15], NM_153711.4:c.*673TA[16], NM_153711.4:c.*673TA[17], NM_153711.4:c.*673TA[18], NM_153711.4:c.*673TA[19], NM_153711.4:c.*673TA[20], NM_153711.4:c.*673TA[21], NM_153711.4:c.*673TA[22], NM_153711.4:c.*673TA[23], NM_153711.4:c.*673TA[25], NM_153711.4:c.*673TA[26], NM_153711.4:c.*673TA[27], NM_153711.4:c.*673TA[28], NM_153711.4:c.*673TA[29], NM_153711.4:c.*673TA[30], NM_153711.4:c.*673TA[32], NM_153711.3:c.*673TA[4], NM_153711.3:c.*673TA[5], NM_153711.3:c.*673TA[6], NM_153711.3:c.*673TA[7], NM_153711.3:c.*673TA[8], NM_153711.3:c.*673TA[9], NM_153711.3:c.*673TA[10], NM_153711.3:c.*673TA[11], NM_153711.3:c.*673TA[12], NM_153711.3:c.*673TA[13], NM_153711.3:c.*673TA[14], NM_153711.3:c.*673TA[15], NM_153711.3:c.*673TA[16], NM_153711.3:c.*673TA[17], NM_153711.3:c.*673TA[18], NM_153711.3:c.*673TA[19], NM_153711.3:c.*673TA[20], NM_153711.3:c.*673TA[21], NM_153711.3:c.*673TA[22], NM_153711.3:c.*673TA[23], NM_153711.3:c.*673TA[25], NM_153711.3:c.*673TA[26], NM_153711.3:c.*673TA[27], NM_153711.3:c.*673TA[28], NM_153711.3:c.*673TA[29], NM_153711.3:c.*673TA[30], NM_153711.3:c.*673TA[32], NM_153711.2:c.*673TA[4], NM_153711.2:c.*673TA[5], NM_153711.2:c.*673TA[6], NM_153711.2:c.*673TA[7], NM_153711.2:c.*673TA[8], NM_153711.2:c.*673TA[9], NM_153711.2:c.*673TA[10], NM_153711.2:c.*673TA[11], NM_153711.2:c.*673TA[12], NM_153711.2:c.*673TA[13], NM_153711.2:c.*673TA[14], NM_153711.2:c.*673TA[15], NM_153711.2:c.*673TA[16], NM_153711.2:c.*673TA[17], NM_153711.2:c.*673TA[18], NM_153711.2:c.*673TA[19], NM_153711.2:c.*673TA[20], NM_153711.2:c.*673TA[21], NM_153711.2:c.*673TA[22], NM_153711.2:c.*673TA[23], NM_153711.2:c.*673TA[25], NM_153711.2:c.*673TA[26], NM_153711.2:c.*673TA[27], NM_153711.2:c.*673TA[28], NM_153711.2:c.*673TA[29], NM_153711.2:c.*673TA[30], NM_153711.2:c.*673TA[32]

                8.

                rs1489844164 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:116510706 (GRCh38)
                  6:116831869 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:116510705:C:T
                  Gene:
                  CALHM5 (Varview), TRAPPC3L (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1489512660 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:116517438 (GRCh38)
                    6:116838601 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:116517437:G:A
                    Gene:
                    CALHM5 (Varview), TRAPPC3L (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000684/2 (KOREAN)
                    HGVS:

                    10.

                    rs1489482278 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      6:116516638 (GRCh38)
                      6:116837801 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:116516637:T:G
                      Gene:
                      CALHM5 (Varview), TRAPPC3L (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/1 (GnomAD)
                      HGVS:

                      11.

                      rs1489383776 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        6:116513745 (GRCh38)
                        6:116834908 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:116513744:A:C
                        Gene:
                        CALHM5 (Varview), TRAPPC3L (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1489228513 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:116522243 (GRCh38)
                          6:116843406 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:116522242:A:C
                          Gene:
                          CALHM5 (Varview), TRAPPC3L (Varview)
                          Functional Consequence:
                          3_prime_UTR_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:

                          13.

                          rs1489127827 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            6:116521262 (GRCh38)
                            6:116842425 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:116521261:C:G,NC_000006.12:116521261:C:T
                            Gene:
                            CALHM5 (Varview), TRAPPC3L (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            T=0.000779/13 (TOMMO)
                            HGVS:

                            14.

                            rs1488833252 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              6:116519529 (GRCh38)
                              6:116840692 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:116519528:C:A,NC_000006.12:116519528:C:G
                              Gene:
                              CALHM5 (Varview), TRAPPC3L (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000023/6 (TOPMED)
                              HGVS:

                              15.

                              rs1488746031 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                6:116522669 (GRCh38)
                                6:116843833 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:116522669:AAA:AAAA
                                Gene:
                                CALHM5 (Varview), TRAPPC3L (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAA=0.000224/1 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:

                                16.

                                rs1488418002 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  6:116524469 (GRCh38)
                                  6:116845632 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:116524468:T:C,NC_000006.12:116524468:T:G
                                  Gene:
                                  CALHM5 (Varview), TRAPPC3L (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1488333765 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    6:116521694 (GRCh38)
                                    6:116842858 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:116521694:AA:AAA
                                    Gene:
                                    CALHM5 (Varview), TRAPPC3L (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAA=0.000071/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000087/23 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1488325790 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:116521702 (GRCh38)
                                      6:116842865 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:116521701:T:C
                                      Gene:
                                      CALHM5 (Varview), TRAPPC3L (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000224/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000223/1 (Estonian)
                                      HGVS:

                                      19.

                                      rs1488324576 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:116511701 (GRCh38)
                                        6:116832864 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:116511700:A:G
                                        Gene:
                                        CALHM5 (Varview), TRAPPC3L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1487831217 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          6:116519814 (GRCh38)
                                          6:116840977 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:116519813:G:C
                                          Gene:
                                          CALHM5 (Varview), TRAPPC3L (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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