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Items: 1 to 20 of 758

1.

rs1491453655 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    16:725676 (GRCh38)
    16:775676 (GRCh37)
    Canonical SPDI:
    NC_000016.10:725675:CA:
    Gene:
    HAGHL (Varview), CCDC78 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.000071/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.725676_725677del, NC_000016.9:g.775676_775677del, NG_032932.1:g.5797_5798del, XM_011522358.3:c.606_607del, XM_011522358.2:c.606_607del, XM_011522358.1:c.606_607del, XM_011522362.2:c.606_607del, XM_011522362.1:c.606_607del, XM_011522356.2:c.606_607del, XM_011522356.1:c.606_607del, XM_011522357.2:c.606_607del, XM_011522357.1:c.606_607del, XM_011522359.2:c.606_607del, XM_011522359.1:c.606_607del, XM_011522360.2:c.606_607del, XM_011522360.1:c.606_607del, XM_011522361.2:c.606_607del, XM_011522361.1:c.606_607del, XM_011522363.2:c.606_607del, XM_011522363.1:c.606_607del, XM_017022929.2:c.606_607del, XM_017022929.1:c.606_607del, XM_011522364.2:c.606_607del, XM_011522364.1:c.606_607del, XM_011522366.2:c.384_385del, XM_011522366.1:c.384_385del, XM_047433603.1:c.87_88del, XM_047433604.1:c.87_88del, XP_011520660.1:p.Glu203fs, XP_011520664.1:p.Glu203fs, XP_011520658.1:p.Glu203fs, XP_011520659.1:p.Glu203fs, XP_011520661.1:p.Glu203fs, XP_011520662.1:p.Glu203fs, XP_011520663.1:p.Glu203fs, XP_011520665.1:p.Glu203fs, XP_016878418.1:p.Glu203fs, XP_011520666.1:p.Glu203fs, XP_011520668.1:p.Glu129fs, XP_047289559.1:p.Glu30fs, XP_047289560.1:p.Glu30fs

    2.

    rs1491259889 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      16:725676 (GRCh38)
      16:775677 (GRCh37)
      Canonical SPDI:
      NC_000016.10:725676:A:AA
      Gene:
      HAGHL (Varview), CCDC78 (Varview)
      Functional Consequence:
      intron_variant,stop_gained,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      AA=0.000071/1 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000016.10:g.725677dup, NC_000016.9:g.775677dup, NG_032932.1:g.5797dup, XM_011522358.3:c.606dup, XM_011522358.2:c.606dup, XM_011522358.1:c.606dup, XM_011522362.2:c.606dup, XM_011522362.1:c.606dup, XM_011522356.2:c.606dup, XM_011522356.1:c.606dup, XM_011522357.2:c.606dup, XM_011522357.1:c.606dup, XM_011522359.2:c.606dup, XM_011522359.1:c.606dup, XM_011522360.2:c.606dup, XM_011522360.1:c.606dup, XM_011522361.2:c.606dup, XM_011522361.1:c.606dup, XM_011522363.2:c.606dup, XM_011522363.1:c.606dup, XM_017022929.2:c.606dup, XM_017022929.1:c.606dup, XM_011522364.2:c.606dup, XM_011522364.1:c.606dup, XM_011522366.2:c.384dup, XM_011522366.1:c.384dup, XM_047433603.1:c.87dup, XM_047433604.1:c.87dup, XP_011520660.1:p.Glu203Ter, XP_011520664.1:p.Glu203Ter, XP_011520658.1:p.Glu203Ter, XP_011520659.1:p.Glu203Ter, XP_011520661.1:p.Glu203Ter, XP_011520662.1:p.Glu203Ter, XP_011520663.1:p.Glu203Ter, XP_011520665.1:p.Glu203Ter, XP_016878418.1:p.Glu203Ter, XP_011520666.1:p.Glu203Ter, XP_011520668.1:p.Glu129Ter, XP_047289559.1:p.Glu30Ter, XP_047289560.1:p.Glu30Ter

      3.

      rs1490466530 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        16:725570 (GRCh38)
        16:775570 (GRCh37)
        Canonical SPDI:
        NC_000016.10:725569:A:C
        Gene:
        HAGHL (Varview), CCDC78 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000016.10:g.725570A>C, NC_000016.9:g.775570A>C, NG_032932.1:g.5904T>G, NM_001031737.3:c.278T>G, NM_001031737.2:c.278T>G, NR_165382.1:n.576T>G, NR_165386.1:n.354T>G, NR_165385.1:n.354T>G, NR_165383.1:n.310T>G, NR_165384.1:n.310T>G, NM_001378030.1:c.278T>G, NM_001378031.1:c.278T>G, XM_006720843.5:c.278T>G, XM_006720843.4:c.278T>G, XM_006720843.3:c.278T>G, XM_006720843.2:c.278T>G, XM_006720843.1:c.278T>G, XM_011522358.3:c.713T>G, XM_011522358.2:c.713T>G, XM_011522358.1:c.713T>G, XM_011522362.2:c.713T>G, XM_011522362.1:c.713T>G, XM_011522356.2:c.713T>G, XM_011522356.1:c.713T>G, XM_011522357.2:c.713T>G, XM_011522357.1:c.713T>G, XM_011522359.2:c.713T>G, XM_011522359.1:c.713T>G, XM_011522360.2:c.713T>G, XM_011522360.1:c.713T>G, XM_011522361.2:c.713T>G, XM_011522361.1:c.713T>G, XM_011522363.2:c.713T>G, XM_011522363.1:c.713T>G, XM_017022929.2:c.713T>G, XM_017022929.1:c.713T>G, XM_011522364.2:c.713T>G, XM_011522364.1:c.713T>G, XM_011522365.2:c.500T>G, XM_011522365.1:c.500T>G, XM_011522366.2:c.491T>G, XM_011522366.1:c.491T>G, XM_006720838.2:c.500T>G, XM_006720838.1:c.500T>G, XM_011522369.2:c.278T>G, XM_011522369.1:c.278T>G, NM_173476.2:c.500T>G, NM_173476.1:c.278T>G, XM_047433603.1:c.194T>G, XM_047433604.1:c.194T>G, XM_047433602.1:c.500T>G, XM_047433605.1:c.-176T>G, XM_047433606.1:c.-176T>G, XM_047433607.1:c.278T>G, NP_001026907.2:p.Leu93Arg, NP_001364959.1:p.Leu93Arg, NP_001364960.1:p.Leu93Arg, XP_006720906.1:p.Leu93Arg, XP_011520660.1:p.Leu238Arg, XP_011520664.1:p.Leu238Arg, XP_011520658.1:p.Leu238Arg, XP_011520659.1:p.Leu238Arg, XP_011520661.1:p.Leu238Arg, XP_011520662.1:p.Leu238Arg, XP_011520663.1:p.Leu238Arg, XP_011520665.1:p.Leu238Arg, XP_016878418.1:p.Leu238Arg, XP_011520666.1:p.Leu238Arg, XP_011520667.1:p.Leu167Arg, XP_011520668.1:p.Leu164Arg, XP_006720901.1:p.Leu167Arg, XP_011520671.1:p.Leu93Arg, XP_047289559.1:p.Leu65Arg, XP_047289560.1:p.Leu65Arg, XP_047289558.1:p.Leu167Arg, XP_047289563.1:p.Leu93Arg

        4.

        rs1490124369 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:722910 (GRCh38)
          16:772910 (GRCh37)
          Canonical SPDI:
          NC_000016.10:722909:C:T
          Gene:
          ANTKMT (Varview), CCDC78 (Varview)
          Functional Consequence:
          500B_downstream_variant,intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
          HGVS:

          5.

          rs1489145108 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            16:725627 (GRCh38)
            16:775627 (GRCh37)
            Canonical SPDI:
            NC_000016.10:725626:T:G
            Gene:
            HAGHL (Varview), CCDC78 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.725627T>G, NC_000016.9:g.775627T>G, NG_032932.1:g.5847A>C, XM_011522358.3:c.656A>C, XM_011522358.2:c.656A>C, XM_011522358.1:c.656A>C, XM_011522362.2:c.656A>C, XM_011522362.1:c.656A>C, XM_011522356.2:c.656A>C, XM_011522356.1:c.656A>C, XM_011522357.2:c.656A>C, XM_011522357.1:c.656A>C, XM_011522359.2:c.656A>C, XM_011522359.1:c.656A>C, XM_011522360.2:c.656A>C, XM_011522360.1:c.656A>C, XM_011522361.2:c.656A>C, XM_011522361.1:c.656A>C, XM_011522363.2:c.656A>C, XM_011522363.1:c.656A>C, XM_017022929.2:c.656A>C, XM_017022929.1:c.656A>C, XM_011522364.2:c.656A>C, XM_011522364.1:c.656A>C, XM_011522366.2:c.434A>C, XM_011522366.1:c.434A>C, XM_047433603.1:c.137A>C, XM_047433604.1:c.137A>C, XP_011520660.1:p.Gln219Pro, XP_011520664.1:p.Gln219Pro, XP_011520658.1:p.Gln219Pro, XP_011520659.1:p.Gln219Pro, XP_011520661.1:p.Gln219Pro, XP_011520662.1:p.Gln219Pro, XP_011520663.1:p.Gln219Pro, XP_011520665.1:p.Gln219Pro, XP_016878418.1:p.Gln219Pro, XP_011520666.1:p.Gln219Pro, XP_011520668.1:p.Gln145Pro, XP_047289559.1:p.Gln46Pro, XP_047289560.1:p.Gln46Pro

            6.

            rs1488059429 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:726301 (GRCh38)
              16:776301 (GRCh37)
              Canonical SPDI:
              NC_000016.10:726300:G:A
              Gene:
              HAGHL (Varview), CCDC78 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000016.10:g.726301G>A, NC_000016.9:g.776301G>A, NG_032932.1:g.5173C>T, NR_165382.1:n.143C>T, XM_011522358.3:c.67C>T, XM_011522358.2:c.67C>T, XM_011522358.1:c.67C>T, XM_011522362.2:c.67C>T, XM_011522362.1:c.67C>T, XM_011522356.2:c.67C>T, XM_011522356.1:c.67C>T, XM_011522357.2:c.67C>T, XM_011522357.1:c.67C>T, XM_011522359.2:c.67C>T, XM_011522359.1:c.67C>T, XM_011522360.2:c.67C>T, XM_011522360.1:c.67C>T, XM_011522361.2:c.67C>T, XM_011522361.1:c.67C>T, XM_011522363.2:c.67C>T, XM_011522363.1:c.67C>T, XM_017022929.2:c.67C>T, XM_017022929.1:c.67C>T, XM_011522364.2:c.67C>T, XM_011522364.1:c.67C>T, XM_011522365.2:c.67C>T, XM_011522365.1:c.67C>T, XM_006720838.2:c.67C>T, XM_006720838.1:c.67C>T, XM_011522367.2:c.67C>T, XM_011522367.1:c.67C>T, XM_011522368.2:c.67C>T, XM_011522368.1:c.67C>T, NM_173476.2:c.67C>T, XM_047433602.1:c.67C>T, XP_011520660.1:p.Pro23Ser, XP_011520664.1:p.Pro23Ser, XP_011520658.1:p.Pro23Ser, XP_011520659.1:p.Pro23Ser, XP_011520661.1:p.Pro23Ser, XP_011520662.1:p.Pro23Ser, XP_011520663.1:p.Pro23Ser, XP_011520665.1:p.Pro23Ser, XP_016878418.1:p.Pro23Ser, XP_011520666.1:p.Pro23Ser, XP_011520667.1:p.Pro23Ser, XP_006720901.1:p.Pro23Ser, XP_011520669.1:p.Pro23Ser, XP_011520670.1:p.Pro23Ser, XP_047289558.1:p.Pro23Ser

              7.

              rs1485479496 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                16:723925 (GRCh38)
                16:773925 (GRCh37)
                Canonical SPDI:
                NC_000016.10:723924:A:C
                Gene:
                CCDC78 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000016.10:g.723925A>C, NC_000016.9:g.773925A>C, NG_032932.1:g.7549T>G, NM_001031737.3:c.1065T>G, NM_001031737.2:c.1065T>G, NR_165382.1:n.1622T>G, NR_165386.1:n.1400T>G, NR_165385.1:n.1333T>G, NR_165383.1:n.1268T>G, NR_165384.1:n.1233T>G, NM_001378030.1:c.1065T>G, NM_001378033.1:c.498T>G, XM_006720843.5:c.1065T>G, XM_006720843.4:c.1065T>G, XM_006720843.3:c.1065T>G, XM_006720843.2:c.1065T>G, XM_006720843.1:c.1065T>G, XM_011522358.3:c.1512T>G, XM_011522358.2:c.1512T>G, XM_011522358.1:c.1512T>G, XM_011522362.2:c.1512T>G, XM_011522362.1:c.1512T>G, XM_011522356.2:c.1512T>G, XM_011522356.1:c.1512T>G, XM_011522357.2:c.1500T>G, XM_011522357.1:c.1500T>G, XM_011522359.2:c.1479T>G, XM_011522359.1:c.1479T>G, XM_011522360.2:c.1467T>G, XM_011522360.1:c.1467T>G, XM_011522361.2:c.1512T>G, XM_011522361.1:c.1512T>G, XM_011522363.2:c.1512T>G, XM_011522363.1:c.1512T>G, XM_017022929.2:c.1512T>G, XM_017022929.1:c.1512T>G, XM_011522364.2:c.1512T>G, XM_011522364.1:c.1512T>G, XM_011522365.2:c.1299T>G, XM_011522365.1:c.1299T>G, XM_011522366.2:c.1290T>G, XM_011522366.1:c.1290T>G, XM_006720838.2:c.1287T>G, XM_006720838.1:c.1287T>G, XM_011522367.2:c.1131T>G, XM_011522367.1:c.1131T>G, XM_011522368.2:c.1119T>G, XM_011522368.1:c.1119T>G, XM_011522369.2:c.1077T>G, XM_011522369.1:c.1077T>G, XM_011522370.2:c.909T>G, XM_011522370.1:c.909T>G, NM_173476.2:c.*982T>G, NM_173476.1:c.*697T>G, XM_047433603.1:c.993T>G, XM_047433604.1:c.993T>G, XM_047433602.1:c.1287T>G, XM_047433605.1:c.624T>G, XM_047433606.1:c.612T>G

                8.

                rs1485218475 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:725177 (GRCh38)
                  16:775177 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:725176:C:T
                  Gene:
                  HAGHL (Varview), CCDC78 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000111/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.725177C>T, NC_000016.9:g.775177C>T, NG_032932.1:g.6297G>A, NM_001378033.1:c.99G>A, XM_011522358.3:c.987G>A, XM_011522358.2:c.987G>A, XM_011522358.1:c.987G>A, XM_011522362.2:c.987G>A, XM_011522362.1:c.987G>A, XM_011522356.2:c.987G>A, XM_011522356.1:c.987G>A, XM_011522359.2:c.954G>A, XM_011522359.1:c.954G>A, XM_011522361.2:c.987G>A, XM_011522361.1:c.987G>A, XM_011522363.2:c.987G>A, XM_011522363.1:c.987G>A, XM_017022929.2:c.987G>A, XM_017022929.1:c.987G>A, XM_011522364.2:c.987G>A, XM_011522364.1:c.987G>A, XM_011522365.2:c.774G>A, XM_011522365.1:c.774G>A, XM_011522366.2:c.765G>A, XM_011522366.1:c.765G>A, XM_011522367.2:c.606G>A, XM_011522367.1:c.606G>A, XM_011522369.2:c.552G>A, XM_011522369.1:c.552G>A, XM_011522370.2:c.384G>A, XM_011522370.1:c.384G>A, NM_173476.2:c.774G>A, NM_173476.1:c.552G>A, XM_047433603.1:c.468G>A, XM_047433604.1:c.468G>A, XM_047433605.1:c.99G>A, XM_047433607.1:c.519G>A

                  9.

                  rs1484564566 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:725789 (GRCh38)
                    16:775789 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:725788:C:T
                    Gene:
                    HAGHL (Varview), CCDC78 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.725789C>T, NC_000016.9:g.775789C>T, NG_032932.1:g.5685G>A, XM_011522358.3:c.494G>A, XM_011522358.2:c.494G>A, XM_011522358.1:c.494G>A, XM_011522362.2:c.494G>A, XM_011522362.1:c.494G>A, XM_011522356.2:c.494G>A, XM_011522356.1:c.494G>A, XM_011522357.2:c.494G>A, XM_011522357.1:c.494G>A, XM_011522359.2:c.494G>A, XM_011522359.1:c.494G>A, XM_011522360.2:c.494G>A, XM_011522360.1:c.494G>A, XM_011522361.2:c.494G>A, XM_011522361.1:c.494G>A, XM_011522363.2:c.494G>A, XM_011522363.1:c.494G>A, XM_017022929.2:c.494G>A, XM_017022929.1:c.494G>A, XM_011522364.2:c.494G>A, XM_011522364.1:c.494G>A, XM_011522366.2:c.272G>A, XM_011522366.1:c.272G>A, XM_047433603.1:c.-26G>A, XM_047433604.1:c.-26G>A, XP_011520660.1:p.Ser165Asn, XP_011520664.1:p.Ser165Asn, XP_011520658.1:p.Ser165Asn, XP_011520659.1:p.Ser165Asn, XP_011520661.1:p.Ser165Asn, XP_011520662.1:p.Ser165Asn, XP_011520663.1:p.Ser165Asn, XP_011520665.1:p.Ser165Asn, XP_016878418.1:p.Ser165Asn, XP_011520666.1:p.Ser165Asn, XP_011520668.1:p.Ser91Asn

                    10.

                    rs1483835928 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:725421 (GRCh38)
                      16:775421 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:725420:T:C
                      Gene:
                      HAGHL (Varview), CCDC78 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000016.10:g.725421T>C, NC_000016.9:g.775421T>C, NG_032932.1:g.6053A>G, NM_001031737.3:c.427A>G, NM_001031737.2:c.427A>G, NR_165382.1:n.725A>G, NR_165386.1:n.503A>G, NR_165385.1:n.503A>G, NR_165383.1:n.459A>G, NM_001378030.1:c.427A>G, NM_001378031.1:c.427A>G, XM_006720843.5:c.427A>G, XM_006720843.4:c.427A>G, XM_006720843.3:c.427A>G, XM_006720843.2:c.427A>G, XM_006720843.1:c.427A>G, XM_011522358.3:c.862A>G, XM_011522358.2:c.862A>G, XM_011522358.1:c.862A>G, XM_011522362.2:c.862A>G, XM_011522362.1:c.862A>G, XM_011522356.2:c.862A>G, XM_011522356.1:c.862A>G, XM_011522357.2:c.862A>G, XM_011522357.1:c.862A>G, XM_011522361.2:c.862A>G, XM_011522361.1:c.862A>G, XM_011522363.2:c.862A>G, XM_011522363.1:c.862A>G, XM_017022929.2:c.862A>G, XM_017022929.1:c.862A>G, XM_011522364.2:c.862A>G, XM_011522364.1:c.862A>G, XM_011522365.2:c.649A>G, XM_011522365.1:c.649A>G, XM_011522366.2:c.640A>G, XM_011522366.1:c.640A>G, XM_006720838.2:c.649A>G, XM_006720838.1:c.649A>G, XM_011522369.2:c.427A>G, XM_011522369.1:c.427A>G, NM_173476.2:c.649A>G, NM_173476.1:c.427A>G, XM_047433603.1:c.343A>G, XM_047433604.1:c.343A>G, XM_047433602.1:c.649A>G, XM_047433605.1:c.-27A>G, XM_047433606.1:c.-27A>G, NP_001026907.2:p.Arg143Gly, NP_001364959.1:p.Arg143Gly, NP_001364960.1:p.Arg143Gly, XP_006720906.1:p.Arg143Gly, XP_011520660.1:p.Arg288Gly, XP_011520664.1:p.Arg288Gly, XP_011520658.1:p.Arg288Gly, XP_011520659.1:p.Arg288Gly, XP_011520663.1:p.Arg288Gly, XP_011520665.1:p.Arg288Gly, XP_016878418.1:p.Arg288Gly, XP_011520666.1:p.Arg288Gly, XP_011520667.1:p.Arg217Gly, XP_011520668.1:p.Arg214Gly, XP_006720901.1:p.Arg217Gly, XP_011520671.1:p.Arg143Gly, XP_047289559.1:p.Arg115Gly, XP_047289560.1:p.Arg115Gly, XP_047289558.1:p.Arg217Gly

                      11.

                      rs1482994989 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        16:726282 (GRCh38)
                        16:776282 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:726281:G:T
                        Gene:
                        HAGHL (Varview), CCDC78 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.726282G>T, NC_000016.9:g.776282G>T, NG_032932.1:g.5192C>A, NR_165382.1:n.162C>A, XM_011522358.3:c.86C>A, XM_011522358.2:c.86C>A, XM_011522358.1:c.86C>A, XM_011522362.2:c.86C>A, XM_011522362.1:c.86C>A, XM_011522356.2:c.86C>A, XM_011522356.1:c.86C>A, XM_011522357.2:c.86C>A, XM_011522357.1:c.86C>A, XM_011522359.2:c.86C>A, XM_011522359.1:c.86C>A, XM_011522360.2:c.86C>A, XM_011522360.1:c.86C>A, XM_011522361.2:c.86C>A, XM_011522361.1:c.86C>A, XM_011522363.2:c.86C>A, XM_011522363.1:c.86C>A, XM_017022929.2:c.86C>A, XM_017022929.1:c.86C>A, XM_011522364.2:c.86C>A, XM_011522364.1:c.86C>A, XM_011522365.2:c.86C>A, XM_011522365.1:c.86C>A, XM_006720838.2:c.86C>A, XM_006720838.1:c.86C>A, XM_011522367.2:c.86C>A, XM_011522367.1:c.86C>A, XM_011522368.2:c.86C>A, XM_011522368.1:c.86C>A, NM_173476.2:c.86C>A, XM_047433602.1:c.86C>A, XP_011520660.1:p.Pro29His, XP_011520664.1:p.Pro29His, XP_011520658.1:p.Pro29His, XP_011520659.1:p.Pro29His, XP_011520661.1:p.Pro29His, XP_011520662.1:p.Pro29His, XP_011520663.1:p.Pro29His, XP_011520665.1:p.Pro29His, XP_016878418.1:p.Pro29His, XP_011520666.1:p.Pro29His, XP_011520667.1:p.Pro29His, XP_006720901.1:p.Pro29His, XP_011520669.1:p.Pro29His, XP_011520670.1:p.Pro29His, XP_047289558.1:p.Pro29His

                        12.

                        rs1482540009 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          16:722924 (GRCh38)
                          16:772924 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:722923:G:C,NC_000016.10:722923:G:T
                          Gene:
                          ANTKMT (Varview), CCDC78 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.722924G>C, NC_000016.10:g.722924G>T, NC_000016.9:g.772924G>C, NC_000016.9:g.772924G>T, NG_032932.1:g.8550C>G, NG_032932.1:g.8550C>A, NM_001031737.3:c.1295C>G, NM_001031737.3:c.1295C>A, NM_001031737.2:c.1295C>G, NM_001031737.2:c.1295C>A, NR_165382.1:n.1928C>G, NR_165382.1:n.1928C>A, NR_165386.1:n.1634C>G, NR_165386.1:n.1634C>A, NR_165385.1:n.1567C>G, NR_165385.1:n.1567C>A, NR_165383.1:n.1502C>G, NR_165383.1:n.1502C>A, NR_165384.1:n.1467C>G, NR_165384.1:n.1467C>A, NM_001378030.1:c.1299C>G, NM_001378030.1:c.1299C>A, NM_001378031.1:c.1119C>G, NM_001378031.1:c.1119C>A, NM_001378033.1:c.732C>G, NM_001378033.1:c.732C>A, XM_006720843.5:c.1371C>G, XM_006720843.5:c.1371C>A, XM_006720843.4:c.1371C>G, XM_006720843.4:c.1371C>A, XM_006720843.3:c.1371C>G, XM_006720843.3:c.1371C>A, XM_006720843.2:c.1371C>G, XM_006720843.2:c.1371C>A, XM_006720843.1:c.1371C>G, XM_006720843.1:c.1371C>A, XM_011522362.2:c.1742C>G, XM_011522362.2:c.1742C>A, XM_011522362.1:c.1742C>G, XM_011522362.1:c.1742C>A, XM_011522356.2:c.1818C>G, XM_011522356.2:c.1818C>A, XM_011522356.1:c.1818C>G, XM_011522356.1:c.1818C>A, XM_011522357.2:c.1806C>G, XM_011522357.2:c.1806C>A, XM_011522357.1:c.1806C>G, XM_011522357.1:c.1806C>A, XM_011522359.2:c.1785C>G, XM_011522359.2:c.1785C>A, XM_011522359.1:c.1785C>G, XM_011522359.1:c.1785C>A, XM_011522360.2:c.1773C>G, XM_011522360.2:c.1773C>A, XM_011522360.1:c.1773C>G, XM_011522360.1:c.1773C>A, XM_011522361.2:c.1746C>G, XM_011522361.2:c.1746C>A, XM_011522361.1:c.1746C>G, XM_011522361.1:c.1746C>A, XM_011522363.2:c.1742C>G, XM_011522363.2:c.1742C>A, XM_011522363.1:c.1742C>G, XM_011522363.1:c.1742C>A, XM_011522365.2:c.1605C>G, XM_011522365.2:c.1605C>A, XM_011522365.1:c.1605C>G, XM_011522365.1:c.1605C>A, XM_011522366.2:c.1596C>G, XM_011522366.2:c.1596C>A, XM_011522366.1:c.1596C>G, XM_011522366.1:c.1596C>A, XM_006720838.2:c.1593C>G, XM_006720838.2:c.1593C>A, XM_006720838.1:c.1593C>G, XM_006720838.1:c.1593C>A, XM_011522367.2:c.1437C>G, XM_011522367.2:c.1437C>A, XM_011522367.1:c.1437C>G, XM_011522367.1:c.1437C>A, XM_011522368.2:c.1425C>G, XM_011522368.2:c.1425C>A, XM_011522368.1:c.1425C>G, XM_011522368.1:c.1425C>A, XM_011522369.2:c.1383C>G, XM_011522369.2:c.1383C>A, XM_011522369.1:c.1383C>G, XM_011522369.1:c.1383C>A, XM_011522370.2:c.1215C>G, XM_011522370.2:c.1215C>A, XM_011522370.1:c.1215C>G, XM_011522370.1:c.1215C>A, NM_173476.2:c.*1983C>G, NM_173476.2:c.*1983C>A, NM_173476.1:c.*957C>G, NM_173476.1:c.*957C>A, XM_047433603.1:c.1299C>G, XM_047433603.1:c.1299C>A, XM_047433604.1:c.1299C>G, XM_047433604.1:c.1299C>A, XM_047433602.1:c.1521C>G, XM_047433602.1:c.1521C>A, XM_047433605.1:c.930C>G, XM_047433605.1:c.930C>A, XM_047433606.1:c.918C>G, XM_047433606.1:c.918C>A, NP_001026907.2:p.Ala432Gly, NP_001026907.2:p.Ala432Glu, XP_011520664.1:p.Ala581Gly, XP_011520664.1:p.Ala581Glu, XP_011520665.1:p.Ala581Gly, XP_011520665.1:p.Ala581Glu

                          13.

                          rs1480249703 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:724473 (GRCh38)
                            16:774473 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:724472:T:C
                            Gene:
                            CCDC78 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.724473T>C, NC_000016.9:g.774473T>C, NG_032932.1:g.7001A>G, NM_001031737.3:c.802A>G, NM_001031737.2:c.802A>G, NR_165382.1:n.1359A>G, NR_165386.1:n.1137A>G, NR_165385.1:n.1070A>G, NR_165383.1:n.1005A>G, NR_165384.1:n.970A>G, NM_001378030.1:c.802A>G, NM_001378031.1:c.802A>G, NM_001378033.1:c.235A>G, XM_006720843.5:c.802A>G, XM_006720843.4:c.802A>G, XM_006720843.3:c.802A>G, XM_006720843.2:c.802A>G, XM_006720843.1:c.802A>G, XM_011522358.3:c.1249A>G, XM_011522358.2:c.1249A>G, XM_011522358.1:c.1249A>G, XM_011522362.2:c.1249A>G, XM_011522362.1:c.1249A>G, XM_011522356.2:c.1249A>G, XM_011522356.1:c.1249A>G, XM_011522357.2:c.1237A>G, XM_011522357.1:c.1237A>G, XM_011522359.2:c.1216A>G, XM_011522359.1:c.1216A>G, XM_011522360.2:c.1204A>G, XM_011522360.1:c.1204A>G, XM_011522361.2:c.1249A>G, XM_011522361.1:c.1249A>G, XM_011522363.2:c.1249A>G, XM_011522363.1:c.1249A>G, XM_017022929.2:c.1249A>G, XM_017022929.1:c.1249A>G, XM_011522364.2:c.1249A>G, XM_011522364.1:c.1249A>G, XM_011522365.2:c.1036A>G, XM_011522365.1:c.1036A>G, XM_011522366.2:c.1027A>G, XM_011522366.1:c.1027A>G, XM_006720838.2:c.1024A>G, XM_006720838.1:c.1024A>G, XM_011522367.2:c.868A>G, XM_011522367.1:c.868A>G, XM_011522368.2:c.856A>G, XM_011522368.1:c.856A>G, XM_011522369.2:c.814A>G, XM_011522369.1:c.814A>G, XM_011522370.2:c.646A>G, XM_011522370.1:c.646A>G, NM_173476.2:c.*434A>G, NM_173476.1:c.*434A>G, XM_047433603.1:c.730A>G, XM_047433604.1:c.730A>G, XM_047433602.1:c.1024A>G, XM_047433605.1:c.361A>G, XM_047433606.1:c.349A>G, NP_001026907.2:p.Thr268Ala, NP_001364959.1:p.Thr268Ala, NP_001364960.1:p.Thr268Ala, NP_001364962.1:p.Thr79Ala, XP_006720906.1:p.Thr268Ala, XP_011520660.1:p.Thr417Ala, XP_011520664.1:p.Thr417Ala, XP_011520658.1:p.Thr417Ala, XP_011520659.1:p.Thr413Ala, XP_011520661.1:p.Thr406Ala, XP_011520662.1:p.Thr402Ala, XP_011520663.1:p.Thr417Ala, XP_011520665.1:p.Thr417Ala, XP_016878418.1:p.Thr417Ala, XP_011520666.1:p.Thr417Ala, XP_011520667.1:p.Thr346Ala, XP_011520668.1:p.Thr343Ala, XP_006720901.1:p.Thr342Ala, XP_011520669.1:p.Thr290Ala, XP_011520670.1:p.Thr286Ala, XP_011520671.1:p.Thr272Ala, XP_011520672.1:p.Thr216Ala, XP_047289559.1:p.Thr244Ala, XP_047289560.1:p.Thr244Ala, XP_047289558.1:p.Thr342Ala, XP_047289561.1:p.Thr121Ala, XP_047289562.1:p.Thr117Ala

                            14.

                            rs1477528084 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:725844 (GRCh38)
                              16:775844 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:725843:G:A
                              Gene:
                              HAGHL (Varview), CCDC78 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000016.10:g.725844G>A, NC_000016.9:g.775844G>A, NG_032932.1:g.5630C>T, NM_001031737.3:c.217C>T, NM_001031737.2:c.217C>T, NR_165382.1:n.515C>T, NR_165386.1:n.293C>T, NR_165385.1:n.293C>T, NR_165383.1:n.249C>T, NR_165384.1:n.249C>T, NM_001378030.1:c.217C>T, NM_001378031.1:c.217C>T, NM_001378033.1:c.-69C>T, XM_006720843.5:c.217C>T, XM_006720843.4:c.217C>T, XM_006720843.3:c.217C>T, XM_006720843.2:c.217C>T, XM_006720843.1:c.217C>T, XM_011522358.3:c.439C>T, XM_011522358.2:c.439C>T, XM_011522358.1:c.439C>T, XM_011522362.2:c.439C>T, XM_011522362.1:c.439C>T, XM_011522356.2:c.439C>T, XM_011522356.1:c.439C>T, XM_011522357.2:c.439C>T, XM_011522357.1:c.439C>T, XM_011522359.2:c.439C>T, XM_011522359.1:c.439C>T, XM_011522360.2:c.439C>T, XM_011522360.1:c.439C>T, XM_011522361.2:c.439C>T, XM_011522361.1:c.439C>T, XM_011522363.2:c.439C>T, XM_011522363.1:c.439C>T, XM_017022929.2:c.439C>T, XM_017022929.1:c.439C>T, XM_011522364.2:c.439C>T, XM_011522364.1:c.439C>T, XM_011522365.2:c.439C>T, XM_011522365.1:c.439C>T, XM_011522366.2:c.217C>T, XM_011522366.1:c.217C>T, XM_006720838.2:c.439C>T, XM_006720838.1:c.439C>T, XM_011522367.2:c.439C>T, XM_011522367.1:c.439C>T, XM_011522368.2:c.439C>T, XM_011522368.1:c.439C>T, XM_011522369.2:c.217C>T, XM_011522369.1:c.217C>T, XM_011522370.2:c.217C>T, XM_011522370.1:c.217C>T, NM_173476.2:c.439C>T, NM_173476.1:c.217C>T, XM_047433603.1:c.-81C>T, XM_047433604.1:c.-81C>T, XM_047433602.1:c.439C>T, XM_047433605.1:c.-237C>T, XM_047433606.1:c.-237C>T, XM_047433607.1:c.217C>T, NP_001026907.2:p.His73Tyr, NP_001364959.1:p.His73Tyr, NP_001364960.1:p.His73Tyr, XP_006720906.1:p.His73Tyr, XP_011520660.1:p.His147Tyr, XP_011520664.1:p.His147Tyr, XP_011520658.1:p.His147Tyr, XP_011520659.1:p.His147Tyr, XP_011520661.1:p.His147Tyr, XP_011520662.1:p.His147Tyr, XP_011520663.1:p.His147Tyr, XP_011520665.1:p.His147Tyr, XP_016878418.1:p.His147Tyr, XP_011520666.1:p.His147Tyr, XP_011520667.1:p.His147Tyr, XP_011520668.1:p.His73Tyr, XP_006720901.1:p.His147Tyr, XP_011520669.1:p.His147Tyr, XP_011520670.1:p.His147Tyr, XP_011520671.1:p.His73Tyr, XP_011520672.1:p.His73Tyr, XP_047289558.1:p.His147Tyr, XP_047289563.1:p.His73Tyr

                              15.

                              rs1477445404 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                16:725609 (GRCh38)
                                16:775609 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:725608:A:
                                Gene:
                                HAGHL (Varview), CCDC78 (Varview)
                                Functional Consequence:
                                frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000016.10:g.725609del, NC_000016.9:g.775609del, NG_032932.1:g.5865del, XM_011522358.3:c.674del, XM_011522358.2:c.674del, XM_011522358.1:c.674del, XM_011522362.2:c.674del, XM_011522362.1:c.674del, XM_011522356.2:c.674del, XM_011522356.1:c.674del, XM_011522357.2:c.674del, XM_011522357.1:c.674del, XM_011522359.2:c.674del, XM_011522359.1:c.674del, XM_011522360.2:c.674del, XM_011522360.1:c.674del, XM_011522361.2:c.674del, XM_011522361.1:c.674del, XM_011522363.2:c.674del, XM_011522363.1:c.674del, XM_017022929.2:c.674del, XM_017022929.1:c.674del, XM_011522364.2:c.674del, XM_011522364.1:c.674del, XM_011522366.2:c.452del, XM_011522366.1:c.452del, XM_047433603.1:c.155del, XM_047433604.1:c.155del, XP_011520660.1:p.Val225fs, XP_011520664.1:p.Val225fs, XP_011520658.1:p.Val225fs, XP_011520659.1:p.Val225fs, XP_011520661.1:p.Val225fs, XP_011520662.1:p.Val225fs, XP_011520663.1:p.Val225fs, XP_011520665.1:p.Val225fs, XP_016878418.1:p.Val225fs, XP_011520666.1:p.Val225fs, XP_011520668.1:p.Val151fs, XP_047289559.1:p.Val52fs, XP_047289560.1:p.Val52fs

                                16.

                                rs1477415376 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  16:724112 (GRCh38)
                                  16:774112 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:724111:C:A
                                  Gene:
                                  CCDC78 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000009/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.724112C>A, NC_000016.9:g.774112C>A, NG_032932.1:g.7362G>T, NM_001031737.3:c.1047G>T, NM_001031737.2:c.1047G>T, NR_165382.1:n.1604G>T, NR_165386.1:n.1382G>T, NR_165385.1:n.1315G>T, NR_165383.1:n.1250G>T, NR_165384.1:n.1215G>T, NM_001378030.1:c.1047G>T, NM_001378033.1:c.480G>T, XM_006720843.5:c.1047G>T, XM_006720843.4:c.1047G>T, XM_006720843.3:c.1047G>T, XM_006720843.2:c.1047G>T, XM_006720843.1:c.1047G>T, XM_011522358.3:c.1494G>T, XM_011522358.2:c.1494G>T, XM_011522358.1:c.1494G>T, XM_011522362.2:c.1494G>T, XM_011522362.1:c.1494G>T, XM_011522356.2:c.1494G>T, XM_011522356.1:c.1494G>T, XM_011522357.2:c.1482G>T, XM_011522357.1:c.1482G>T, XM_011522359.2:c.1461G>T, XM_011522359.1:c.1461G>T, XM_011522360.2:c.1449G>T, XM_011522360.1:c.1449G>T, XM_011522361.2:c.1494G>T, XM_011522361.1:c.1494G>T, XM_011522363.2:c.1494G>T, XM_011522363.1:c.1494G>T, XM_017022929.2:c.1494G>T, XM_017022929.1:c.1494G>T, XM_011522364.2:c.1494G>T, XM_011522364.1:c.1494G>T, XM_011522365.2:c.1281G>T, XM_011522365.1:c.1281G>T, XM_011522366.2:c.1272G>T, XM_011522366.1:c.1272G>T, XM_006720838.2:c.1269G>T, XM_006720838.1:c.1269G>T, XM_011522367.2:c.1113G>T, XM_011522367.1:c.1113G>T, XM_011522368.2:c.1101G>T, XM_011522368.1:c.1101G>T, XM_011522369.2:c.1059G>T, XM_011522369.1:c.1059G>T, XM_011522370.2:c.891G>T, XM_011522370.1:c.891G>T, NM_173476.2:c.*795G>T, NM_173476.1:c.*679G>T, XM_047433603.1:c.975G>T, XM_047433604.1:c.975G>T, XM_047433602.1:c.1269G>T, XM_047433605.1:c.606G>T, XM_047433606.1:c.594G>T, NP_001026907.2:p.Glu349Asp, NP_001364959.1:p.Glu349Asp, NP_001364962.1:p.Glu160Asp, XP_006720906.1:p.Glu349Asp, XP_011520660.1:p.Glu498Asp, XP_011520664.1:p.Glu498Asp, XP_011520658.1:p.Glu498Asp, XP_011520659.1:p.Glu494Asp, XP_011520661.1:p.Glu487Asp, XP_011520662.1:p.Glu483Asp, XP_011520663.1:p.Glu498Asp, XP_011520665.1:p.Glu498Asp, XP_016878418.1:p.Glu498Asp, XP_011520666.1:p.Glu498Asp, XP_011520667.1:p.Glu427Asp, XP_011520668.1:p.Glu424Asp, XP_006720901.1:p.Glu423Asp, XP_011520669.1:p.Glu371Asp, XP_011520670.1:p.Glu367Asp, XP_011520671.1:p.Glu353Asp, XP_011520672.1:p.Glu297Asp, XP_047289559.1:p.Glu325Asp, XP_047289560.1:p.Glu325Asp, XP_047289558.1:p.Glu423Asp, XP_047289561.1:p.Glu202Asp, XP_047289562.1:p.Glu198Asp

                                  17.

                                  rs1477303144 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:726132 (GRCh38)
                                    16:776132 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:726131:C:T
                                    Gene:
                                    HAGHL (Varview), CCDC78 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000054/1 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    T=0.000019/3 (GnomAD_exomes)
                                    T=0.000021/3 (GnomAD)
                                    T=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000016.10:g.726132C>T, NC_000016.9:g.776132C>T, NG_032932.1:g.5342G>A, NR_165382.1:n.312G>A, XM_011522358.3:c.236G>A, XM_011522358.2:c.236G>A, XM_011522358.1:c.236G>A, XM_011522362.2:c.236G>A, XM_011522362.1:c.236G>A, XM_011522356.2:c.236G>A, XM_011522356.1:c.236G>A, XM_011522357.2:c.236G>A, XM_011522357.1:c.236G>A, XM_011522359.2:c.236G>A, XM_011522359.1:c.236G>A, XM_011522360.2:c.236G>A, XM_011522360.1:c.236G>A, XM_011522361.2:c.236G>A, XM_011522361.1:c.236G>A, XM_011522363.2:c.236G>A, XM_011522363.1:c.236G>A, XM_017022929.2:c.236G>A, XM_017022929.1:c.236G>A, XM_011522364.2:c.236G>A, XM_011522364.1:c.236G>A, XM_011522365.2:c.236G>A, XM_011522365.1:c.236G>A, XM_006720838.2:c.236G>A, XM_006720838.1:c.236G>A, XM_011522367.2:c.236G>A, XM_011522367.1:c.236G>A, XM_011522368.2:c.236G>A, XM_011522368.1:c.236G>A, NM_173476.2:c.236G>A, XM_047433602.1:c.236G>A, XP_011520660.1:p.Ser79Asn, XP_011520664.1:p.Ser79Asn, XP_011520658.1:p.Ser79Asn, XP_011520659.1:p.Ser79Asn, XP_011520661.1:p.Ser79Asn, XP_011520662.1:p.Ser79Asn, XP_011520663.1:p.Ser79Asn, XP_011520665.1:p.Ser79Asn, XP_016878418.1:p.Ser79Asn, XP_011520666.1:p.Ser79Asn, XP_011520667.1:p.Ser79Asn, XP_006720901.1:p.Ser79Asn, XP_011520669.1:p.Ser79Asn, XP_011520670.1:p.Ser79Asn, XP_047289558.1:p.Ser79Asn

                                    18.

                                    rs1475409165 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      16:723866 (GRCh38)
                                      16:773866 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:723865:G:C
                                      Gene:
                                      CCDC78 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.723866G>C, NC_000016.9:g.773866G>C, NG_032932.1:g.7608C>G, NM_001031737.3:c.1124C>G, NM_001031737.2:c.1124C>G, NR_165382.1:n.1681C>G, NR_165386.1:n.1459C>G, NR_165385.1:n.1392C>G, NR_165383.1:n.1327C>G, NR_165384.1:n.1292C>G, NM_001378030.1:c.1124C>G, NM_001378033.1:c.557C>G, XM_006720843.5:c.1124C>G, XM_006720843.4:c.1124C>G, XM_006720843.3:c.1124C>G, XM_006720843.2:c.1124C>G, XM_006720843.1:c.1124C>G, XM_011522358.3:c.1571C>G, XM_011522358.2:c.1571C>G, XM_011522358.1:c.1571C>G, XM_011522362.2:c.1571C>G, XM_011522362.1:c.1571C>G, XM_011522356.2:c.1571C>G, XM_011522356.1:c.1571C>G, XM_011522357.2:c.1559C>G, XM_011522357.1:c.1559C>G, XM_011522359.2:c.1538C>G, XM_011522359.1:c.1538C>G, XM_011522360.2:c.1526C>G, XM_011522360.1:c.1526C>G, XM_011522361.2:c.1571C>G, XM_011522361.1:c.1571C>G, XM_011522363.2:c.1571C>G, XM_011522363.1:c.1571C>G, XM_017022929.2:c.1571C>G, XM_017022929.1:c.1571C>G, XM_011522364.2:c.1571C>G, XM_011522364.1:c.1571C>G, XM_011522365.2:c.1358C>G, XM_011522365.1:c.1358C>G, XM_011522366.2:c.1349C>G, XM_011522366.1:c.1349C>G, XM_006720838.2:c.1346C>G, XM_006720838.1:c.1346C>G, XM_011522367.2:c.1190C>G, XM_011522367.1:c.1190C>G, XM_011522368.2:c.1178C>G, XM_011522368.1:c.1178C>G, XM_011522369.2:c.1136C>G, XM_011522369.1:c.1136C>G, XM_011522370.2:c.968C>G, XM_011522370.1:c.968C>G, NM_173476.2:c.*1041C>G, NM_173476.1:c.*757C>G, XM_047433603.1:c.1052C>G, XM_047433604.1:c.1052C>G, XM_047433602.1:c.1346C>G, XM_047433605.1:c.683C>G, XM_047433606.1:c.671C>G, NP_001026907.2:p.Ser375Ter, NP_001364959.1:p.Ser375Ter, NP_001364962.1:p.Ser186Ter, XP_006720906.1:p.Ser375Ter, XP_011520660.1:p.Ser524Ter, XP_011520664.1:p.Ser524Ter, XP_011520658.1:p.Ser524Ter, XP_011520659.1:p.Ser520Ter, XP_011520661.1:p.Ser513Ter, XP_011520662.1:p.Ser509Ter, XP_011520663.1:p.Ser524Ter, XP_011520665.1:p.Ser524Ter, XP_016878418.1:p.Ser524Ter, XP_011520666.1:p.Ser524Ter, XP_011520667.1:p.Ser453Ter, XP_011520668.1:p.Ser450Ter, XP_006720901.1:p.Ser449Ter, XP_011520669.1:p.Ser397Ter, XP_011520670.1:p.Ser393Ter, XP_011520671.1:p.Ser379Ter, XP_011520672.1:p.Ser323Ter, XP_047289559.1:p.Ser351Ter, XP_047289560.1:p.Ser351Ter, XP_047289558.1:p.Ser449Ter, XP_047289561.1:p.Ser228Ter, XP_047289562.1:p.Ser224Ter

                                      19.

                                      rs1474333237 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:724770 (GRCh38)
                                        16:774770 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:724769:C:T
                                        Gene:
                                        CCDC78 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.724770C>T, NC_000016.9:g.774770C>T, NG_032932.1:g.6704G>A, NM_001031737.3:c.676G>A, NM_001031737.2:c.676G>A, NR_165382.1:n.1062G>A, NR_165386.1:n.840G>A, NR_165385.1:n.944G>A, NR_165383.1:n.708G>A, NR_165384.1:n.673G>A, NM_001378030.1:c.676G>A, NM_001378031.1:c.676G>A, XM_006720843.5:c.676G>A, XM_006720843.4:c.676G>A, XM_006720843.3:c.676G>A, XM_006720843.2:c.676G>A, XM_006720843.1:c.676G>A, XM_011522358.3:c.1123G>A, XM_011522358.2:c.1123G>A, XM_011522358.1:c.1123G>A, XM_011522362.2:c.1123G>A, XM_011522362.1:c.1123G>A, XM_011522356.2:c.1123G>A, XM_011522356.1:c.1123G>A, XM_011522357.2:c.1111G>A, XM_011522357.1:c.1111G>A, XM_011522359.2:c.1090G>A, XM_011522359.1:c.1090G>A, XM_011522360.2:c.1078G>A, XM_011522360.1:c.1078G>A, XM_011522361.2:c.1123G>A, XM_011522361.1:c.1123G>A, XM_011522363.2:c.1123G>A, XM_011522363.1:c.1123G>A, XM_017022929.2:c.1123G>A, XM_017022929.1:c.1123G>A, XM_011522364.2:c.1123G>A, XM_011522364.1:c.1123G>A, XM_011522365.2:c.910G>A, XM_011522365.1:c.910G>A, XM_011522366.2:c.901G>A, XM_011522366.1:c.901G>A, XM_006720838.2:c.898G>A, XM_006720838.1:c.898G>A, XM_011522367.2:c.742G>A, XM_011522367.1:c.742G>A, XM_011522368.2:c.730G>A, XM_011522368.1:c.730G>A, XM_011522369.2:c.688G>A, XM_011522369.1:c.688G>A, XM_011522370.2:c.520G>A, XM_011522370.1:c.520G>A, NM_173476.2:c.*137G>A, NM_173476.1:c.*137G>A, XM_047433603.1:c.604G>A, XM_047433604.1:c.604G>A, XM_047433602.1:c.898G>A, XM_047433605.1:c.235G>A, XM_047433606.1:c.223G>A, NP_001026907.2:p.Glu226Lys, NP_001364959.1:p.Glu226Lys, NP_001364960.1:p.Glu226Lys, XP_006720906.1:p.Glu226Lys, XP_011520660.1:p.Glu375Lys, XP_011520664.1:p.Glu375Lys, XP_011520658.1:p.Glu375Lys, XP_011520659.1:p.Glu371Lys, XP_011520661.1:p.Glu364Lys, XP_011520662.1:p.Glu360Lys, XP_011520663.1:p.Glu375Lys, XP_011520665.1:p.Glu375Lys, XP_016878418.1:p.Glu375Lys, XP_011520666.1:p.Glu375Lys, XP_011520667.1:p.Glu304Lys, XP_011520668.1:p.Glu301Lys, XP_006720901.1:p.Glu300Lys, XP_011520669.1:p.Glu248Lys, XP_011520670.1:p.Glu244Lys, XP_011520671.1:p.Glu230Lys, XP_011520672.1:p.Glu174Lys, XP_047289559.1:p.Glu202Lys, XP_047289560.1:p.Glu202Lys, XP_047289558.1:p.Glu300Lys, XP_047289561.1:p.Glu79Lys, XP_047289562.1:p.Glu75Lys

                                        20.

                                        rs1473631191 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          16:725255 (GRCh38)
                                          16:775255 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:725254:C:G,NC_000016.10:725254:C:T
                                          Gene:
                                          HAGHL (Varview), CCDC78 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.725255C>G, NC_000016.10:g.725255C>T, NC_000016.9:g.775255C>G, NC_000016.9:g.775255C>T, NG_032932.1:g.6219G>C, NG_032932.1:g.6219G>A, NM_001031737.3:c.474G>C, NM_001031737.3:c.474G>A, NM_001031737.2:c.474G>C, NM_001031737.2:c.474G>A, NR_165382.1:n.772G>C, NR_165382.1:n.772G>A, NR_165386.1:n.550G>C, NR_165386.1:n.550G>A, NR_165385.1:n.550G>C, NR_165385.1:n.550G>A, NR_165383.1:n.506G>C, NR_165383.1:n.506G>A, NR_165384.1:n.473G>C, NR_165384.1:n.473G>A, NM_001378030.1:c.474G>C, NM_001378030.1:c.474G>A, NM_001378031.1:c.474G>C, NM_001378031.1:c.474G>A, NM_001378033.1:c.21G>C, NM_001378033.1:c.21G>A, XM_006720843.5:c.474G>C, XM_006720843.5:c.474G>A, XM_006720843.4:c.474G>C, XM_006720843.4:c.474G>A, XM_006720843.3:c.474G>C, XM_006720843.3:c.474G>A, XM_006720843.2:c.474G>C, XM_006720843.2:c.474G>A, XM_006720843.1:c.474G>C, XM_006720843.1:c.474G>A, XM_011522358.3:c.909G>C, XM_011522358.3:c.909G>A, XM_011522358.2:c.909G>C, XM_011522358.2:c.909G>A, XM_011522358.1:c.909G>C, XM_011522358.1:c.909G>A, XM_011522362.2:c.909G>C, XM_011522362.2:c.909G>A, XM_011522362.1:c.909G>C, XM_011522362.1:c.909G>A, XM_011522356.2:c.909G>C, XM_011522356.2:c.909G>A, XM_011522356.1:c.909G>C, XM_011522356.1:c.909G>A, XM_011522357.2:c.909G>C, XM_011522357.2:c.909G>A, XM_011522357.1:c.909G>C, XM_011522357.1:c.909G>A, XM_011522359.2:c.876G>C, XM_011522359.2:c.876G>A, XM_011522359.1:c.876G>C, XM_011522359.1:c.876G>A, XM_011522360.2:c.876G>C, XM_011522360.2:c.876G>A, XM_011522360.1:c.876G>C, XM_011522360.1:c.876G>A, XM_011522361.2:c.909G>C, XM_011522361.2:c.909G>A, XM_011522361.1:c.909G>C, XM_011522361.1:c.909G>A, XM_011522363.2:c.909G>C, XM_011522363.2:c.909G>A, XM_011522363.1:c.909G>C, XM_011522363.1:c.909G>A, XM_017022929.2:c.909G>C, XM_017022929.2:c.909G>A, XM_017022929.1:c.909G>C, XM_017022929.1:c.909G>A, XM_011522364.2:c.909G>C, XM_011522364.2:c.909G>A, XM_011522364.1:c.909G>C, XM_011522364.1:c.909G>A, XM_011522365.2:c.696G>C, XM_011522365.2:c.696G>A, XM_011522365.1:c.696G>C, XM_011522365.1:c.696G>A, XM_011522366.2:c.687G>C, XM_011522366.2:c.687G>A, XM_011522366.1:c.687G>C, XM_011522366.1:c.687G>A, XM_006720838.2:c.696G>C, XM_006720838.2:c.696G>A, XM_006720838.1:c.696G>C, XM_006720838.1:c.696G>A, XM_011522367.2:c.528G>C, XM_011522367.2:c.528G>A, XM_011522367.1:c.528G>C, XM_011522367.1:c.528G>A, XM_011522368.2:c.528G>C, XM_011522368.2:c.528G>A, XM_011522368.1:c.528G>C, XM_011522368.1:c.528G>A, XM_011522369.2:c.474G>C, XM_011522369.2:c.474G>A, XM_011522369.1:c.474G>C, XM_011522369.1:c.474G>A, XM_011522370.2:c.306G>C, XM_011522370.2:c.306G>A, XM_011522370.1:c.306G>C, XM_011522370.1:c.306G>A, NM_173476.2:c.696G>C, NM_173476.2:c.696G>A, NM_173476.1:c.474G>C, NM_173476.1:c.474G>A, XM_047433603.1:c.390G>C, XM_047433603.1:c.390G>A, XM_047433604.1:c.390G>C, XM_047433604.1:c.390G>A, XM_047433602.1:c.696G>C, XM_047433602.1:c.696G>A, XM_047433605.1:c.21G>C, XM_047433605.1:c.21G>A, XM_047433606.1:c.21G>C, XM_047433606.1:c.21G>A, XM_047433607.1:c.441G>C, XM_047433607.1:c.441G>A, NP_001026907.2:p.Gln158His, NP_001364959.1:p.Gln158His, NP_001364960.1:p.Gln158His, NP_001364962.1:p.Gln7His, XP_006720906.1:p.Gln158His, XP_011520660.1:p.Gln303His, XP_011520664.1:p.Gln303His, XP_011520658.1:p.Gln303His, XP_011520659.1:p.Gln303His, XP_011520661.1:p.Gln292His, XP_011520662.1:p.Gln292His, XP_011520663.1:p.Gln303His, XP_011520665.1:p.Gln303His, XP_016878418.1:p.Gln303His, XP_011520666.1:p.Gln303His, XP_011520667.1:p.Gln232His, XP_011520668.1:p.Gln229His, XP_006720901.1:p.Gln232His, XP_011520669.1:p.Gln176His, XP_011520670.1:p.Gln176His, XP_011520671.1:p.Gln158His, XP_011520672.1:p.Gln102His, XP_047289559.1:p.Gln130His, XP_047289560.1:p.Gln130His, XP_047289558.1:p.Gln232His, XP_047289561.1:p.Gln7His, XP_047289562.1:p.Gln7His, XP_047289563.1:p.Gln147His

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