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Items: 1 to 20 of 3684

1.

rs1490932213 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:31081530 (GRCh38)
    16:31092851 (GRCh37)
    Canonical SPDI:
    NC_000016.10:31081529:A:G
    Gene:
    ZNF646 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    HGVS:
    NC_000016.10:g.31081530A>G, NC_000016.9:g.31092851A>G, XM_005255712.5:c.5206A>G, XM_005255712.4:c.5206A>G, XM_005255712.3:c.5206A>G, XM_005255712.2:c.5206A>G, XM_005255712.1:c.5206A>G, XM_005255710.5:c.5206A>G, XM_005255710.4:c.5206A>G, XM_005255710.3:c.5206A>G, XM_005255710.2:c.5206A>G, XM_005255710.1:c.5206A>G, XM_005255711.5:c.5206A>G, XM_005255711.4:c.5206A>G, XM_005255711.3:c.5206A>G, XM_005255711.2:c.5206A>G, XM_005255711.1:c.5206A>G, NM_014699.4:c.5206A>G, NM_014699.3:c.5206A>G, XM_011545990.3:c.5206A>G, XM_011545990.2:c.5206A>G, XM_011545990.1:c.5206A>G, XR_001752041.2:n.5227A>G, XR_001752041.1:n.5231A>G, XM_047434957.1:c.5206A>G, XM_047434956.1:c.5206A>G, XM_047434958.1:c.5206A>G, XP_005255769.1:p.Ile1736Val, XP_005255767.1:p.Ile1736Val, XP_005255768.1:p.Ile1736Val, NP_055514.3:p.Ile1736Val, XP_011544292.1:p.Ile1736Val, XP_047290913.1:p.Ile1736Val, XP_047290912.1:p.Ile1736Val, XP_047290914.1:p.Ile1736Val

    2.

    rs1490582722 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      16:31073370 (GRCh38)
      16:31084691 (GRCh37)
      Canonical SPDI:
      NC_000016.10:31073369:A:C,NC_000016.10:31073369:A:G
      Gene:
      ZNF646 (Varview), ZNF668 (Varview)
      Functional Consequence:
      upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1490439977 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:31078590 (GRCh38)
        16:31089911 (GRCh37)
        Canonical SPDI:
        NC_000016.10:31078589:G:A
        Gene:
        ZNF646 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000011/3 (TOPMED)
        HGVS:
        NC_000016.10:g.31078590G>A, NC_000016.9:g.31089911G>A, XM_005255712.5:c.2266G>A, XM_005255712.4:c.2266G>A, XM_005255712.3:c.2266G>A, XM_005255712.2:c.2266G>A, XM_005255712.1:c.2266G>A, XM_005255710.5:c.2266G>A, XM_005255710.4:c.2266G>A, XM_005255710.3:c.2266G>A, XM_005255710.2:c.2266G>A, XM_005255710.1:c.2266G>A, XM_005255711.5:c.2266G>A, XM_005255711.4:c.2266G>A, XM_005255711.3:c.2266G>A, XM_005255711.2:c.2266G>A, XM_005255711.1:c.2266G>A, NM_014699.4:c.2266G>A, NM_014699.3:c.2266G>A, XM_011545990.3:c.2266G>A, XM_011545990.2:c.2266G>A, XM_011545990.1:c.2266G>A, XR_001752041.2:n.2287G>A, XR_001752041.1:n.2291G>A, XM_047434957.1:c.2266G>A, XM_047434956.1:c.2266G>A, XM_047434958.1:c.2266G>A, XP_005255769.1:p.Gly756Ser, XP_005255767.1:p.Gly756Ser, XP_005255768.1:p.Gly756Ser, NP_055514.3:p.Gly756Ser, XP_011544292.1:p.Gly756Ser, XP_047290913.1:p.Gly756Ser, XP_047290912.1:p.Gly756Ser, XP_047290914.1:p.Gly756Ser

        4.

        rs1490124003 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:31079890 (GRCh38)
          16:31091211 (GRCh37)
          Canonical SPDI:
          NC_000016.10:31079889:C:T
          Gene:
          ZNF646 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          HGVS:
          NC_000016.10:g.31079890C>T, NC_000016.9:g.31091211C>T, XM_005255712.5:c.3566C>T, XM_005255712.4:c.3566C>T, XM_005255712.3:c.3566C>T, XM_005255712.2:c.3566C>T, XM_005255712.1:c.3566C>T, XM_005255710.5:c.3566C>T, XM_005255710.4:c.3566C>T, XM_005255710.3:c.3566C>T, XM_005255710.2:c.3566C>T, XM_005255710.1:c.3566C>T, XM_005255711.5:c.3566C>T, XM_005255711.4:c.3566C>T, XM_005255711.3:c.3566C>T, XM_005255711.2:c.3566C>T, XM_005255711.1:c.3566C>T, NM_014699.4:c.3566C>T, NM_014699.3:c.3566C>T, XM_011545990.3:c.3566C>T, XM_011545990.2:c.3566C>T, XM_011545990.1:c.3566C>T, XR_001752041.2:n.3587C>T, XR_001752041.1:n.3591C>T, XM_047434957.1:c.3566C>T, XM_047434956.1:c.3566C>T, XM_047434958.1:c.3566C>T, XP_005255769.1:p.Ala1189Val, XP_005255767.1:p.Ala1189Val, XP_005255768.1:p.Ala1189Val, NP_055514.3:p.Ala1189Val, XP_011544292.1:p.Ala1189Val, XP_047290913.1:p.Ala1189Val, XP_047290912.1:p.Ala1189Val, XP_047290914.1:p.Ala1189Val

          5.

          rs1488719179 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:31076762 (GRCh38)
            16:31088083 (GRCh37)
            Canonical SPDI:
            NC_000016.10:31076761:G:C
            Gene:
            ZNF646 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.31076762G>C, NC_000016.9:g.31088083G>C, XM_005255712.5:c.438G>C, XM_005255712.4:c.438G>C, XM_005255712.3:c.438G>C, XM_005255712.2:c.438G>C, XM_005255712.1:c.438G>C, XM_005255710.5:c.438G>C, XM_005255710.4:c.438G>C, XM_005255710.3:c.438G>C, XM_005255710.2:c.438G>C, XM_005255710.1:c.438G>C, XM_005255711.5:c.438G>C, XM_005255711.4:c.438G>C, XM_005255711.3:c.438G>C, XM_005255711.2:c.438G>C, XM_005255711.1:c.438G>C, NM_014699.4:c.438G>C, NM_014699.3:c.438G>C, XM_011545990.3:c.438G>C, XM_011545990.2:c.438G>C, XM_011545990.1:c.438G>C, XR_001752041.2:n.459G>C, XR_001752041.1:n.463G>C, XM_047434957.1:c.438G>C, XM_047434956.1:c.438G>C, XM_047434958.1:c.438G>C, XP_005255769.1:p.Glu146Asp, XP_005255767.1:p.Glu146Asp, XP_005255768.1:p.Glu146Asp, NP_055514.3:p.Glu146Asp, XP_011544292.1:p.Glu146Asp, XP_047290913.1:p.Glu146Asp, XP_047290912.1:p.Glu146Asp, XP_047290914.1:p.Glu146Asp

            6.

            rs1488610240 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:31078869 (GRCh38)
              16:31090190 (GRCh37)
              Canonical SPDI:
              NC_000016.10:31078868:C:T
              Gene:
              ZNF646 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,stop_gained
              HGVS:
              NC_000016.10:g.31078869C>T, NC_000016.9:g.31090190C>T, XM_005255712.5:c.2545C>T, XM_005255712.4:c.2545C>T, XM_005255712.3:c.2545C>T, XM_005255712.2:c.2545C>T, XM_005255712.1:c.2545C>T, XM_005255710.5:c.2545C>T, XM_005255710.4:c.2545C>T, XM_005255710.3:c.2545C>T, XM_005255710.2:c.2545C>T, XM_005255710.1:c.2545C>T, XM_005255711.5:c.2545C>T, XM_005255711.4:c.2545C>T, XM_005255711.3:c.2545C>T, XM_005255711.2:c.2545C>T, XM_005255711.1:c.2545C>T, NM_014699.4:c.2545C>T, NM_014699.3:c.2545C>T, XM_011545990.3:c.2545C>T, XM_011545990.2:c.2545C>T, XM_011545990.1:c.2545C>T, XR_001752041.2:n.2566C>T, XR_001752041.1:n.2570C>T, XM_047434957.1:c.2545C>T, XM_047434956.1:c.2545C>T, XM_047434958.1:c.2545C>T, XP_005255769.1:p.Gln849Ter, XP_005255767.1:p.Gln849Ter, XP_005255768.1:p.Gln849Ter, NP_055514.3:p.Gln849Ter, XP_011544292.1:p.Gln849Ter, XP_047290913.1:p.Gln849Ter, XP_047290912.1:p.Gln849Ter, XP_047290914.1:p.Gln849Ter

              7.

              rs1488580571 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:31079227 (GRCh38)
                16:31090548 (GRCh37)
                Canonical SPDI:
                NC_000016.10:31079226:A:G
                Gene:
                ZNF646 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.31079227A>G, NC_000016.9:g.31090548A>G, XM_005255712.5:c.2903A>G, XM_005255712.4:c.2903A>G, XM_005255712.3:c.2903A>G, XM_005255712.2:c.2903A>G, XM_005255712.1:c.2903A>G, XM_005255710.5:c.2903A>G, XM_005255710.4:c.2903A>G, XM_005255710.3:c.2903A>G, XM_005255710.2:c.2903A>G, XM_005255710.1:c.2903A>G, XM_005255711.5:c.2903A>G, XM_005255711.4:c.2903A>G, XM_005255711.3:c.2903A>G, XM_005255711.2:c.2903A>G, XM_005255711.1:c.2903A>G, NM_014699.4:c.2903A>G, NM_014699.3:c.2903A>G, XM_011545990.3:c.2903A>G, XM_011545990.2:c.2903A>G, XM_011545990.1:c.2903A>G, XR_001752041.2:n.2924A>G, XR_001752041.1:n.2928A>G, XM_047434957.1:c.2903A>G, XM_047434956.1:c.2903A>G, XM_047434958.1:c.2903A>G, XP_005255769.1:p.Asp968Gly, XP_005255767.1:p.Asp968Gly, XP_005255768.1:p.Asp968Gly, NP_055514.3:p.Asp968Gly, XP_011544292.1:p.Asp968Gly, XP_047290913.1:p.Asp968Gly, XP_047290912.1:p.Asp968Gly, XP_047290914.1:p.Asp968Gly

                8.

                rs1488209317 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:31076403 (GRCh38)
                  16:31087724 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:31076402:C:T
                  Gene:
                  ZNF646 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000016.10:g.31076403C>T, NC_000016.9:g.31087724C>T, XM_005255712.5:c.79C>T, XM_005255712.4:c.79C>T, XM_005255712.3:c.79C>T, XM_005255712.2:c.79C>T, XM_005255712.1:c.79C>T, XM_005255710.5:c.79C>T, XM_005255710.4:c.79C>T, XM_005255710.3:c.79C>T, XM_005255710.2:c.79C>T, XM_005255710.1:c.79C>T, XM_005255711.5:c.79C>T, XM_005255711.4:c.79C>T, XM_005255711.3:c.79C>T, XM_005255711.2:c.79C>T, XM_005255711.1:c.79C>T, NM_014699.4:c.79C>T, NM_014699.3:c.79C>T, XM_011545990.3:c.79C>T, XM_011545990.2:c.79C>T, XM_011545990.1:c.79C>T, XR_001752041.2:n.100C>T, XR_001752041.1:n.104C>T, XM_047434957.1:c.79C>T, XM_047434956.1:c.79C>T, XM_047434958.1:c.79C>T, XP_005255769.1:p.Arg27Ter, XP_005255767.1:p.Arg27Ter, XP_005255768.1:p.Arg27Ter, NP_055514.3:p.Arg27Ter, XP_011544292.1:p.Arg27Ter, XP_047290913.1:p.Arg27Ter, XP_047290912.1:p.Arg27Ter, XP_047290914.1:p.Arg27Ter

                  9.

                  rs1488183230 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:31077733 (GRCh38)
                    16:31089054 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:31077732:G:A
                    Gene:
                    ZNF646 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    HGVS:
                    NC_000016.10:g.31077733G>A, NC_000016.9:g.31089054G>A, XM_005255712.5:c.1409G>A, XM_005255712.4:c.1409G>A, XM_005255712.3:c.1409G>A, XM_005255712.2:c.1409G>A, XM_005255712.1:c.1409G>A, XM_005255710.5:c.1409G>A, XM_005255710.4:c.1409G>A, XM_005255710.3:c.1409G>A, XM_005255710.2:c.1409G>A, XM_005255710.1:c.1409G>A, XM_005255711.5:c.1409G>A, XM_005255711.4:c.1409G>A, XM_005255711.3:c.1409G>A, XM_005255711.2:c.1409G>A, XM_005255711.1:c.1409G>A, NM_014699.4:c.1409G>A, NM_014699.3:c.1409G>A, XM_011545990.3:c.1409G>A, XM_011545990.2:c.1409G>A, XM_011545990.1:c.1409G>A, XR_001752041.2:n.1430G>A, XR_001752041.1:n.1434G>A, XM_047434957.1:c.1409G>A, XM_047434956.1:c.1409G>A, XM_047434958.1:c.1409G>A, XP_005255769.1:p.Cys470Tyr, XP_005255767.1:p.Cys470Tyr, XP_005255768.1:p.Cys470Tyr, NP_055514.3:p.Cys470Tyr, XP_011544292.1:p.Cys470Tyr, XP_047290913.1:p.Cys470Tyr, XP_047290912.1:p.Cys470Tyr, XP_047290914.1:p.Cys470Tyr

                    10.

                    rs1487727552 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      16:31082380 (GRCh38)
                      16:31093701 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:31082379:C:A,NC_000016.10:31082379:C:G
                      Gene:
                      ZNF646 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000011/3 (TOPMED)
                      HGVS:

                      11.

                      rs1487595938 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        16:31083434 (GRCh38)
                        16:31094755 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:31083432:AAA:A
                        Gene:
                        ZNF646 (Varview), PRSS53 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1487436464 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:31072713 (GRCh38)
                          16:31084034 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:31072712:C:T
                          Gene:
                          ZNF646 (Varview), ZNF668 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          HGVS:

                          13.

                          rs1487410427 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            16:31072059 (GRCh38)
                            16:31083380 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:31072058:C:A
                            Gene:
                            ZNF646 (Varview), ZNF668 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000026/7 (TOPMED)
                            A=0.000036/5 (GnomAD)
                            A=0.000602/10 (TOMMO)
                            A=0.00308/9 (KOREAN)
                            A=0.003275/6 (Korea1K)
                            HGVS:

                            14.

                            rs1487154444 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:31073724 (GRCh38)
                              16:31085045 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:31073723:C:T
                              Gene:
                              ZNF646 (Varview), ZNF668 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1486676167 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                16:31073316 (GRCh38)
                                16:31084637 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:31073315:G:A,NC_000016.10:31073315:G:C
                                Gene:
                                ZNF646 (Varview), ZNF668 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000071/1 (TOMMO)
                                C=0.000547/1 (Korea1K)
                                HGVS:

                                16.

                                rs1485698658 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  16:31082134 (GRCh38)
                                  16:31093455 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:31082133:G:C,NC_000016.10:31082133:G:T
                                  Gene:
                                  ZNF646 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1485187371 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GACAAG>- [Show Flanks]
                                    Chromosome:
                                    16:31074918 (GRCh38)
                                    16:31086239 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:31074914:AAGGACAAG:AAG
                                    Gene:
                                    ZNF646 (Varview), ZNF668 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    HGVS:

                                    18.

                                    rs1485089685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      16:31073716 (GRCh38)
                                      16:31085037 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:31073715:C:G
                                      Gene:
                                      ZNF646 (Varview), ZNF668 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1485039170 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        16:31072970 (GRCh38)
                                        16:31084291 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:31072969:C:A,NC_000016.10:31072969:C:T
                                        Gene:
                                        ZNF646 (Varview), ZNF668 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1484941514 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          16:31081840 (GRCh38)
                                          16:31093161 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:31081839:G:A,NC_000016.10:31081839:G:T
                                          Gene:
                                          ZNF646 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/1 (GnomAD_exomes)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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