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Items: 1 to 20 of 1125

1.

rs1491412940 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C,G [Show Flanks]
    Chromosome:
    16:19063671 (GRCh38)
    16:19074994 (GRCh37)
    Canonical SPDI:
    NC_000016.10:19063671::C,NC_000016.10:19063671::G
    Gene:
    TMC7 (Varview), COQ7-DT (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000047/5 (GnomAD)
    C=0.000071/1 (TOMMO)
    HGVS:
    NC_000016.10:g.19063671_19063672insC, NC_000016.10:g.19063671_19063672insG, NC_000016.9:g.19074993_19074994insC, NC_000016.9:g.19074993_19074994insG, NG_046596.1:g.1077_1078insC, NG_046596.1:g.1077_1078insG, NM_024847.4:c.*1828_*1829insC, NM_024847.4:c.*1828_*1829insG, NM_024847.3:c.*1828_*1829insC, NM_024847.3:c.*1828_*1829insG, NM_001160364.2:c.*1828_*1829insC, NM_001160364.2:c.*1828_*1829insG, NM_001160364.1:c.*1828_*1829insC, NM_001160364.1:c.*1828_*1829insG, XM_047434662.1:c.*1828_*1829insC, XM_047434662.1:c.*1828_*1829insG, NM_001324263.1:c.*1828_*1829insC, NM_001324263.1:c.*1828_*1829insG, XM_047434661.1:c.*1828_*1829insC, XM_047434661.1:c.*1828_*1829insG, NM_001324268.1:c.*1828_*1829insC, NM_001324268.1:c.*1828_*1829insG, NM_001324265.1:c.*1828_*1829insC, NM_001324265.1:c.*1828_*1829insG, NR_136733.1:n.3961_3962insC, NR_136733.1:n.3961_3962insG

    2.

    rs1490177616 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TGATT>- [Show Flanks]
      Chromosome:
      16:19047095 (GRCh38)
      16:19058417 (GRCh37)
      Canonical SPDI:
      NC_000016.10:19047094:TGATT:
      Gene:
      TMC7 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      -=0.000029/4 (GnomAD)
      HGVS:

      3.

      rs1489556602 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:19063676 (GRCh38)
        16:19074998 (GRCh37)
        Canonical SPDI:
        NC_000016.10:19063675:G:A
        Gene:
        TMC7 (Varview), COQ7-DT (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.0003/1 (KOREAN)
        A=0.0011/2 (Korea1K)
        HGVS:

        4.

        rs1488890285 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:19037883 (GRCh38)
          16:19049205 (GRCh37)
          Canonical SPDI:
          NC_000016.10:19037882:G:C
          Gene:
          TMC7 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/2 (GnomAD_exomes)
          HGVS:

          5.

          rs1487182301 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:19062207 (GRCh38)
            16:19073529 (GRCh37)
            Canonical SPDI:
            NC_000016.10:19062206:T:C
            Gene:
            TMC7 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1486639431 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:19063655 (GRCh38)
              16:19074977 (GRCh37)
              Canonical SPDI:
              NC_000016.10:19063654:A:G
              Gene:
              TMC7 (Varview), COQ7-DT (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000022/3 (GnomAD)
              G=0.000156/1 (1000Genomes)
              HGVS:

              7.

              rs1486179467 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:19059431 (GRCh38)
                16:19070753 (GRCh37)
                Canonical SPDI:
                NC_000016.10:19059430:C:T
                Gene:
                TMC7 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1485860079 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:19021705 (GRCh38)
                  16:19033027 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:19021704:G:A
                  Gene:
                  TMC7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1483605769 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    16:19062174 (GRCh38)
                    16:19073496 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:19062173:C:G
                    Gene:
                    TMC7 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1482476037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:19063133 (GRCh38)
                      16:19074455 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:19063132:G:A
                      Gene:
                      TMC7 (Varview), COQ7-DT (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:

                      11.

                      rs1482105142 has merged into rs5816025 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGTGTGTGTGTGTGTG>-,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                        Chromosome:
                        16:19063683 (GRCh38)
                        16:19075005 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                        Gene:
                        TMC7 (Varview), COQ7-DT (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGTGTG=0./0 (ALFA)
                        HGVS:
                        NC_000016.10:g.19063673TG[5], NC_000016.10:g.19063673TG[7], NC_000016.10:g.19063673TG[9], NC_000016.10:g.19063673TG[10], NC_000016.10:g.19063673TG[11], NC_000016.10:g.19063673TG[12], NC_000016.10:g.19063673TG[14], NC_000016.10:g.19063673TG[15], NC_000016.10:g.19063673TG[16], NC_000016.10:g.19063673TG[17], NC_000016.10:g.19063673TG[18], NC_000016.10:g.19063673TG[19], NC_000016.10:g.19063673TG[20], NC_000016.9:g.19074995TG[5], NC_000016.9:g.19074995TG[7], NC_000016.9:g.19074995TG[9], NC_000016.9:g.19074995TG[10], NC_000016.9:g.19074995TG[11], NC_000016.9:g.19074995TG[12], NC_000016.9:g.19074995TG[14], NC_000016.9:g.19074995TG[15], NC_000016.9:g.19074995TG[16], NC_000016.9:g.19074995TG[17], NC_000016.9:g.19074995TG[18], NC_000016.9:g.19074995TG[19], NC_000016.9:g.19074995TG[20], NG_046596.1:g.1079TG[5], NG_046596.1:g.1079TG[7], NG_046596.1:g.1079TG[9], NG_046596.1:g.1079TG[10], NG_046596.1:g.1079TG[11], NG_046596.1:g.1079TG[12], NG_046596.1:g.1079TG[14], NG_046596.1:g.1079TG[15], NG_046596.1:g.1079TG[16], NG_046596.1:g.1079TG[17], NG_046596.1:g.1079TG[18], NG_046596.1:g.1079TG[19], NG_046596.1:g.1079TG[20], NM_024847.4:c.*1830TG[5], NM_024847.4:c.*1830TG[7], NM_024847.4:c.*1830TG[9], NM_024847.4:c.*1830TG[10], NM_024847.4:c.*1830TG[11], NM_024847.4:c.*1830TG[12], NM_024847.4:c.*1830TG[14], NM_024847.4:c.*1830TG[15], NM_024847.4:c.*1830TG[16], NM_024847.4:c.*1830TG[17], NM_024847.4:c.*1830TG[18], NM_024847.4:c.*1830TG[19], NM_024847.4:c.*1830TG[20], NM_024847.3:c.*1830TG[5], NM_024847.3:c.*1830TG[7], NM_024847.3:c.*1830TG[9], NM_024847.3:c.*1830TG[10], NM_024847.3:c.*1830TG[11], NM_024847.3:c.*1830TG[12], NM_024847.3:c.*1830TG[14], NM_024847.3:c.*1830TG[15], NM_024847.3:c.*1830TG[16], NM_024847.3:c.*1830TG[17], NM_024847.3:c.*1830TG[18], NM_024847.3:c.*1830TG[19], NM_024847.3:c.*1830TG[20], NM_001160364.2:c.*1830TG[5], NM_001160364.2:c.*1830TG[7], NM_001160364.2:c.*1830TG[9], NM_001160364.2:c.*1830TG[10], NM_001160364.2:c.*1830TG[11], NM_001160364.2:c.*1830TG[12], NM_001160364.2:c.*1830TG[14], NM_001160364.2:c.*1830TG[15], NM_001160364.2:c.*1830TG[16], NM_001160364.2:c.*1830TG[17], NM_001160364.2:c.*1830TG[18], NM_001160364.2:c.*1830TG[19], NM_001160364.2:c.*1830TG[20], NM_001160364.1:c.*1830TG[5], NM_001160364.1:c.*1830TG[7], NM_001160364.1:c.*1830TG[9], NM_001160364.1:c.*1830TG[10], NM_001160364.1:c.*1830TG[11], NM_001160364.1:c.*1830TG[12], NM_001160364.1:c.*1830TG[14], NM_001160364.1:c.*1830TG[15], NM_001160364.1:c.*1830TG[16], NM_001160364.1:c.*1830TG[17], NM_001160364.1:c.*1830TG[18], NM_001160364.1:c.*1830TG[19], NM_001160364.1:c.*1830TG[20], XM_047434662.1:c.*1830TG[5], XM_047434662.1:c.*1830TG[7], XM_047434662.1:c.*1830TG[9], XM_047434662.1:c.*1830TG[10], XM_047434662.1:c.*1830TG[11], XM_047434662.1:c.*1830TG[12], XM_047434662.1:c.*1830TG[14], XM_047434662.1:c.*1830TG[15], XM_047434662.1:c.*1830TG[16], XM_047434662.1:c.*1830TG[17], XM_047434662.1:c.*1830TG[18], XM_047434662.1:c.*1830TG[19], XM_047434662.1:c.*1830TG[20], NM_001324263.1:c.*1830TG[5], NM_001324263.1:c.*1830TG[7], NM_001324263.1:c.*1830TG[9], NM_001324263.1:c.*1830TG[10], NM_001324263.1:c.*1830TG[11], NM_001324263.1:c.*1830TG[12], NM_001324263.1:c.*1830TG[14], NM_001324263.1:c.*1830TG[15], NM_001324263.1:c.*1830TG[16], NM_001324263.1:c.*1830TG[17], NM_001324263.1:c.*1830TG[18], NM_001324263.1:c.*1830TG[19], NM_001324263.1:c.*1830TG[20], XM_047434661.1:c.*1830TG[5], XM_047434661.1:c.*1830TG[7], XM_047434661.1:c.*1830TG[9], XM_047434661.1:c.*1830TG[10], XM_047434661.1:c.*1830TG[11], XM_047434661.1:c.*1830TG[12], XM_047434661.1:c.*1830TG[14], XM_047434661.1:c.*1830TG[15], XM_047434661.1:c.*1830TG[16], XM_047434661.1:c.*1830TG[17], XM_047434661.1:c.*1830TG[18], XM_047434661.1:c.*1830TG[19], XM_047434661.1:c.*1830TG[20], NM_001324268.1:c.*1830TG[5], NM_001324268.1:c.*1830TG[7], NM_001324268.1:c.*1830TG[9], NM_001324268.1:c.*1830TG[10], NM_001324268.1:c.*1830TG[11], NM_001324268.1:c.*1830TG[12], NM_001324268.1:c.*1830TG[14], NM_001324268.1:c.*1830TG[15], NM_001324268.1:c.*1830TG[16], NM_001324268.1:c.*1830TG[17], NM_001324268.1:c.*1830TG[18], NM_001324268.1:c.*1830TG[19], NM_001324268.1:c.*1830TG[20], NM_001324265.1:c.*1830TG[5], NM_001324265.1:c.*1830TG[7], NM_001324265.1:c.*1830TG[9], NM_001324265.1:c.*1830TG[10], NM_001324265.1:c.*1830TG[11], NM_001324265.1:c.*1830TG[12], NM_001324265.1:c.*1830TG[14], NM_001324265.1:c.*1830TG[15], NM_001324265.1:c.*1830TG[16], NM_001324265.1:c.*1830TG[17], NM_001324265.1:c.*1830TG[18], NM_001324265.1:c.*1830TG[19], NM_001324265.1:c.*1830TG[20], NR_136733.1:n.3963TG[5], NR_136733.1:n.3963TG[7], NR_136733.1:n.3963TG[9], NR_136733.1:n.3963TG[10], NR_136733.1:n.3963TG[11], NR_136733.1:n.3963TG[12], NR_136733.1:n.3963TG[14], NR_136733.1:n.3963TG[15], NR_136733.1:n.3963TG[16], NR_136733.1:n.3963TG[17], NR_136733.1:n.3963TG[18], NR_136733.1:n.3963TG[19], NR_136733.1:n.3963TG[20]

                        12.

                        rs1481946303 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:19009189 (GRCh38)
                          16:19020511 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:19009188:T:C
                          Gene:
                          TMC7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1480440132 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:19009302 (GRCh38)
                            16:19020624 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:19009301:G:A
                            Gene:
                            TMC7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1479937623 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:19009406 (GRCh38)
                              16:19020728 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:19009405:G:A
                              Gene:
                              TMC7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1479836545 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:19044911 (GRCh38)
                                16:19056233 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:19044910:A:G
                                Gene:
                                TMC7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1479322690 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAAGAAACAATACGCA>- [Show Flanks]
                                  Chromosome:
                                  16:19037925 (GRCh38)
                                  16:19049247 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:19037922:CAGAAGAAACAATACGCA:CA
                                  Gene:
                                  TMC7 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1476082445 has merged into rs5816025 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TGTGTGTGTGTGTGTG>-,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                    Chromosome:
                                    16:19063683 (GRCh38)
                                    16:19075005 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:19063672:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                                    Gene:
                                    TMC7 (Varview), COQ7-DT (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TGTGTGTGTGTGTG=0./0 (ALFA)
                                    HGVS:
                                    NC_000016.10:g.19063673TG[5], NC_000016.10:g.19063673TG[7], NC_000016.10:g.19063673TG[9], NC_000016.10:g.19063673TG[10], NC_000016.10:g.19063673TG[11], NC_000016.10:g.19063673TG[12], NC_000016.10:g.19063673TG[14], NC_000016.10:g.19063673TG[15], NC_000016.10:g.19063673TG[16], NC_000016.10:g.19063673TG[17], NC_000016.10:g.19063673TG[18], NC_000016.10:g.19063673TG[19], NC_000016.10:g.19063673TG[20], NC_000016.9:g.19074995TG[5], NC_000016.9:g.19074995TG[7], NC_000016.9:g.19074995TG[9], NC_000016.9:g.19074995TG[10], NC_000016.9:g.19074995TG[11], NC_000016.9:g.19074995TG[12], NC_000016.9:g.19074995TG[14], NC_000016.9:g.19074995TG[15], NC_000016.9:g.19074995TG[16], NC_000016.9:g.19074995TG[17], NC_000016.9:g.19074995TG[18], NC_000016.9:g.19074995TG[19], NC_000016.9:g.19074995TG[20], NG_046596.1:g.1079TG[5], NG_046596.1:g.1079TG[7], NG_046596.1:g.1079TG[9], NG_046596.1:g.1079TG[10], NG_046596.1:g.1079TG[11], NG_046596.1:g.1079TG[12], NG_046596.1:g.1079TG[14], NG_046596.1:g.1079TG[15], NG_046596.1:g.1079TG[16], NG_046596.1:g.1079TG[17], NG_046596.1:g.1079TG[18], NG_046596.1:g.1079TG[19], NG_046596.1:g.1079TG[20], NM_024847.4:c.*1830TG[5], NM_024847.4:c.*1830TG[7], NM_024847.4:c.*1830TG[9], NM_024847.4:c.*1830TG[10], NM_024847.4:c.*1830TG[11], NM_024847.4:c.*1830TG[12], NM_024847.4:c.*1830TG[14], NM_024847.4:c.*1830TG[15], NM_024847.4:c.*1830TG[16], NM_024847.4:c.*1830TG[17], NM_024847.4:c.*1830TG[18], NM_024847.4:c.*1830TG[19], NM_024847.4:c.*1830TG[20], NM_024847.3:c.*1830TG[5], NM_024847.3:c.*1830TG[7], NM_024847.3:c.*1830TG[9], NM_024847.3:c.*1830TG[10], NM_024847.3:c.*1830TG[11], NM_024847.3:c.*1830TG[12], NM_024847.3:c.*1830TG[14], NM_024847.3:c.*1830TG[15], NM_024847.3:c.*1830TG[16], NM_024847.3:c.*1830TG[17], NM_024847.3:c.*1830TG[18], NM_024847.3:c.*1830TG[19], NM_024847.3:c.*1830TG[20], NM_001160364.2:c.*1830TG[5], NM_001160364.2:c.*1830TG[7], NM_001160364.2:c.*1830TG[9], NM_001160364.2:c.*1830TG[10], NM_001160364.2:c.*1830TG[11], NM_001160364.2:c.*1830TG[12], NM_001160364.2:c.*1830TG[14], NM_001160364.2:c.*1830TG[15], NM_001160364.2:c.*1830TG[16], NM_001160364.2:c.*1830TG[17], NM_001160364.2:c.*1830TG[18], NM_001160364.2:c.*1830TG[19], NM_001160364.2:c.*1830TG[20], NM_001160364.1:c.*1830TG[5], NM_001160364.1:c.*1830TG[7], NM_001160364.1:c.*1830TG[9], NM_001160364.1:c.*1830TG[10], NM_001160364.1:c.*1830TG[11], NM_001160364.1:c.*1830TG[12], NM_001160364.1:c.*1830TG[14], NM_001160364.1:c.*1830TG[15], NM_001160364.1:c.*1830TG[16], NM_001160364.1:c.*1830TG[17], NM_001160364.1:c.*1830TG[18], NM_001160364.1:c.*1830TG[19], NM_001160364.1:c.*1830TG[20], XM_047434662.1:c.*1830TG[5], XM_047434662.1:c.*1830TG[7], XM_047434662.1:c.*1830TG[9], XM_047434662.1:c.*1830TG[10], XM_047434662.1:c.*1830TG[11], XM_047434662.1:c.*1830TG[12], XM_047434662.1:c.*1830TG[14], XM_047434662.1:c.*1830TG[15], XM_047434662.1:c.*1830TG[16], XM_047434662.1:c.*1830TG[17], XM_047434662.1:c.*1830TG[18], XM_047434662.1:c.*1830TG[19], XM_047434662.1:c.*1830TG[20], NM_001324263.1:c.*1830TG[5], NM_001324263.1:c.*1830TG[7], NM_001324263.1:c.*1830TG[9], NM_001324263.1:c.*1830TG[10], NM_001324263.1:c.*1830TG[11], NM_001324263.1:c.*1830TG[12], NM_001324263.1:c.*1830TG[14], NM_001324263.1:c.*1830TG[15], NM_001324263.1:c.*1830TG[16], NM_001324263.1:c.*1830TG[17], NM_001324263.1:c.*1830TG[18], NM_001324263.1:c.*1830TG[19], NM_001324263.1:c.*1830TG[20], XM_047434661.1:c.*1830TG[5], XM_047434661.1:c.*1830TG[7], XM_047434661.1:c.*1830TG[9], XM_047434661.1:c.*1830TG[10], XM_047434661.1:c.*1830TG[11], XM_047434661.1:c.*1830TG[12], XM_047434661.1:c.*1830TG[14], XM_047434661.1:c.*1830TG[15], XM_047434661.1:c.*1830TG[16], XM_047434661.1:c.*1830TG[17], XM_047434661.1:c.*1830TG[18], XM_047434661.1:c.*1830TG[19], XM_047434661.1:c.*1830TG[20], NM_001324268.1:c.*1830TG[5], NM_001324268.1:c.*1830TG[7], NM_001324268.1:c.*1830TG[9], NM_001324268.1:c.*1830TG[10], NM_001324268.1:c.*1830TG[11], NM_001324268.1:c.*1830TG[12], NM_001324268.1:c.*1830TG[14], NM_001324268.1:c.*1830TG[15], NM_001324268.1:c.*1830TG[16], NM_001324268.1:c.*1830TG[17], NM_001324268.1:c.*1830TG[18], NM_001324268.1:c.*1830TG[19], NM_001324268.1:c.*1830TG[20], NM_001324265.1:c.*1830TG[5], NM_001324265.1:c.*1830TG[7], NM_001324265.1:c.*1830TG[9], NM_001324265.1:c.*1830TG[10], NM_001324265.1:c.*1830TG[11], NM_001324265.1:c.*1830TG[12], NM_001324265.1:c.*1830TG[14], NM_001324265.1:c.*1830TG[15], NM_001324265.1:c.*1830TG[16], NM_001324265.1:c.*1830TG[17], NM_001324265.1:c.*1830TG[18], NM_001324265.1:c.*1830TG[19], NM_001324265.1:c.*1830TG[20], NR_136733.1:n.3963TG[5], NR_136733.1:n.3963TG[7], NR_136733.1:n.3963TG[9], NR_136733.1:n.3963TG[10], NR_136733.1:n.3963TG[11], NR_136733.1:n.3963TG[12], NR_136733.1:n.3963TG[14], NR_136733.1:n.3963TG[15], NR_136733.1:n.3963TG[16], NR_136733.1:n.3963TG[17], NR_136733.1:n.3963TG[18], NR_136733.1:n.3963TG[19], NR_136733.1:n.3963TG[20]

                                    18.

                                    rs1474410785 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:19009315 (GRCh38)
                                      16:19020637 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:19009314:G:A
                                      Gene:
                                      TMC7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1473091681 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:19062304 (GRCh38)
                                        16:19073626 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:19062303:T:C
                                        Gene:
                                        TMC7 (Varview), COQ7-DT (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1472205144 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          16:18983976 (GRCh38)
                                          16:18995298 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:18983975:G:A,NC_000016.10:18983975:G:C
                                          Gene:
                                          TMC7 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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