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Items: 1 to 20 of 4589

1.

rs1491477329 has merged into rs35433996 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
    Chromosome:
    1:113908816 (GRCh38)
    1:114451438 (GRCh37)
    Canonical SPDI:
    NC_000001.11:113908803:CACACACACACACACACA:CACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACACACA
    Gene:
    DCLRE1B (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACACACACA=0.00007/1 (ALFA)
    -=0.02759/4 (Vietnamese)
    -=0.10167/61 (NorthernSweden)
    -=0.11961/599 (1000Genomes)
    HGVS:

    2.

    rs1491475929 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      1:113906046 (GRCh38)
      1:114448668 (GRCh37)
      Canonical SPDI:
      NC_000001.11:113906045:CT:
      Gene:
      AP4B1 (Varview), DCLRE1B (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:

      3.

      rs1491459515 has merged into rs1159693224 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        1:113906058 (GRCh38)
        1:114448680 (GRCh37)
        Canonical SPDI:
        NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        AP4B1 (Varview), DCLRE1B (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        -=0.000034/9 (TOPMED)
        HGVS:
        NC_000001.11:g.113906058_113906074del, NC_000001.11:g.113906059_113906074del, NC_000001.11:g.113906060_113906074del, NC_000001.11:g.113906061_113906074del, NC_000001.11:g.113906062_113906074del, NC_000001.11:g.113906063_113906074del, NC_000001.11:g.113906064_113906074del, NC_000001.11:g.113906065_113906074del, NC_000001.11:g.113906066_113906074del, NC_000001.11:g.113906067_113906074del, NC_000001.11:g.113906068_113906074del, NC_000001.11:g.113906069_113906074del, NC_000001.11:g.113906070_113906074del, NC_000001.11:g.113906071_113906074del, NC_000001.11:g.113906072_113906074del, NC_000001.11:g.113906073_113906074del, NC_000001.11:g.113906074del, NC_000001.11:g.113906074dup, NC_000001.11:g.113906073_113906074dup, NC_000001.11:g.113906072_113906074dup, NC_000001.11:g.113906071_113906074dup, NC_000001.11:g.113906067_113906074dup, NC_000001.11:g.113906066_113906074dup, NC_000001.11:g.113906047_113906074dup, NC_000001.10:g.114448680_114448696del, NC_000001.10:g.114448681_114448696del, NC_000001.10:g.114448682_114448696del, NC_000001.10:g.114448683_114448696del, NC_000001.10:g.114448684_114448696del, NC_000001.10:g.114448685_114448696del, NC_000001.10:g.114448686_114448696del, NC_000001.10:g.114448687_114448696del, NC_000001.10:g.114448688_114448696del, NC_000001.10:g.114448689_114448696del, NC_000001.10:g.114448690_114448696del, NC_000001.10:g.114448691_114448696del, NC_000001.10:g.114448692_114448696del, NC_000001.10:g.114448693_114448696del, NC_000001.10:g.114448694_114448696del, NC_000001.10:g.114448695_114448696del, NC_000001.10:g.114448696del, NC_000001.10:g.114448696dup, NC_000001.10:g.114448695_114448696dup, NC_000001.10:g.114448694_114448696dup, NC_000001.10:g.114448693_114448696dup, NC_000001.10:g.114448689_114448696dup, NC_000001.10:g.114448688_114448696dup, NC_000001.10:g.114448669_114448696dup, NG_031901.1:g.4057_4073del, NG_031901.1:g.4058_4073del, NG_031901.1:g.4059_4073del, NG_031901.1:g.4060_4073del, NG_031901.1:g.4061_4073del, NG_031901.1:g.4062_4073del, NG_031901.1:g.4063_4073del, NG_031901.1:g.4064_4073del, NG_031901.1:g.4065_4073del, NG_031901.1:g.4066_4073del, NG_031901.1:g.4067_4073del, NG_031901.1:g.4068_4073del, NG_031901.1:g.4069_4073del, NG_031901.1:g.4070_4073del, NG_031901.1:g.4071_4073del, NG_031901.1:g.4072_4073del, NG_031901.1:g.4073del, NG_031901.1:g.4073dup, NG_031901.1:g.4072_4073dup, NG_031901.1:g.4071_4073dup, NG_031901.1:g.4070_4073dup, NG_031901.1:g.4066_4073dup, NG_031901.1:g.4065_4073dup, NG_031901.1:g.4046_4073dup, NG_057565.1:g.6440_6456del, NG_057565.1:g.6441_6456del, NG_057565.1:g.6442_6456del, NG_057565.1:g.6443_6456del, NG_057565.1:g.6444_6456del, NG_057565.1:g.6445_6456del, NG_057565.1:g.6446_6456del, NG_057565.1:g.6447_6456del, NG_057565.1:g.6448_6456del, NG_057565.1:g.6449_6456del, NG_057565.1:g.6450_6456del, NG_057565.1:g.6451_6456del, NG_057565.1:g.6452_6456del, NG_057565.1:g.6453_6456del, NG_057565.1:g.6454_6456del, NG_057565.1:g.6455_6456del, NG_057565.1:g.6456del, NG_057565.1:g.6456dup, NG_057565.1:g.6455_6456dup, NG_057565.1:g.6454_6456dup, NG_057565.1:g.6453_6456dup, NG_057565.1:g.6449_6456dup, NG_057565.1:g.6448_6456dup, NG_057565.1:g.6429_6456dup

        4.

        rs1491457064 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          1:113893091 (GRCh38)
          1:114435713 (GRCh37)
          Canonical SPDI:
          NC_000001.11:113893090:AG:
          Gene:
          AP4B1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1491361594 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GCAAAGCA [Show Flanks]
            Chromosome:
            1:113897143 (GRCh38)
            1:114439766 (GRCh37)
            Canonical SPDI:
            NC_000001.11:113897143:A:AGCAAAGCA
            Gene:
            AP4B1 (Varview), AP4B1-AS1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            HGVS:

            6.

            rs1491303312 has merged into rs5777170 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:113897152 (GRCh38)
              1:114439774 (GRCh37)
              Canonical SPDI:
              NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:113897142:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              AP4B1 (Varview), AP4B1-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.113897152_113897157del, NC_000001.11:g.113897154_113897157del, NC_000001.11:g.113897155_113897157del, NC_000001.11:g.113897156_113897157del, NC_000001.11:g.113897157del, NC_000001.11:g.113897157dup, NC_000001.11:g.113897156_113897157dup, NC_000001.11:g.113897155_113897157dup, NC_000001.11:g.113897154_113897157dup, NC_000001.11:g.113897153_113897157dup, NC_000001.11:g.113897152_113897157dup, NC_000001.11:g.113897151_113897157dup, NC_000001.11:g.113897150_113897157dup, NC_000001.11:g.113897149_113897157dup, NC_000001.11:g.113897148_113897157dup, NC_000001.11:g.113897147_113897157dup, NC_000001.11:g.113897157_113897158insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.114439774_114439779del, NC_000001.10:g.114439776_114439779del, NC_000001.10:g.114439777_114439779del, NC_000001.10:g.114439778_114439779del, NC_000001.10:g.114439779del, NC_000001.10:g.114439779dup, NC_000001.10:g.114439778_114439779dup, NC_000001.10:g.114439777_114439779dup, NC_000001.10:g.114439776_114439779dup, NC_000001.10:g.114439775_114439779dup, NC_000001.10:g.114439774_114439779dup, NC_000001.10:g.114439773_114439779dup, NC_000001.10:g.114439772_114439779dup, NC_000001.10:g.114439771_114439779dup, NC_000001.10:g.114439770_114439779dup, NC_000001.10:g.114439769_114439779dup, NC_000001.10:g.114439779_114439780insAAAAAAAAAAAAAAAAAAAA, NG_031901.1:g.12972_12977del, NG_031901.1:g.12974_12977del, NG_031901.1:g.12975_12977del, NG_031901.1:g.12976_12977del, NG_031901.1:g.12977del, NG_031901.1:g.12977dup, NG_031901.1:g.12976_12977dup, NG_031901.1:g.12975_12977dup, NG_031901.1:g.12974_12977dup, NG_031901.1:g.12973_12977dup, NG_031901.1:g.12972_12977dup, NG_031901.1:g.12971_12977dup, NG_031901.1:g.12970_12977dup, NG_031901.1:g.12969_12977dup, NG_031901.1:g.12968_12977dup, NG_031901.1:g.12967_12977dup, NG_031901.1:g.12977_12978insTTTTTTTTTTTTTTTTTTTT

              7.

              rs1490900968 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:113897206 (GRCh38)
                1:114439828 (GRCh37)
                Canonical SPDI:
                NC_000001.11:113897205:G:A
                Gene:
                AP4B1 (Varview), AP4B1-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1490869491 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:113898403 (GRCh38)
                  1:114441025 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:113898402:G:C
                  Gene:
                  AP4B1 (Varview), AP4B1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000023/6 (TOPMED)
                  C=0.000029/4 (GnomAD)
                  HGVS:

                  9.

                  rs1490825273 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:113905039 (GRCh38)
                    1:114447661 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:113905038:C:T
                    Gene:
                    AP4B1 (Varview), DCLRE1B (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490644822 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:113904688 (GRCh38)
                      1:114447310 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:113904687:C:T
                      Gene:
                      AP4B1 (Varview), DCLRE1B (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.113904688C>T, NC_000001.10:g.114447310C>T, NG_031901.1:g.5432G>A, NM_006594.5:c.30G>A, NM_006594.4:c.30G>A, NM_006594.3:c.30G>A, NM_001253852.3:c.30G>A, NM_001253852.2:c.30G>A, NM_001253852.1:c.30G>A, NM_001253853.3:c.-140G>A, NM_001253853.2:c.-140G>A, NM_001253853.1:c.-140G>A, NM_001308312.2:c.30G>A, NM_001308312.1:c.30G>A, NG_057565.1:g.5070C>T, NM_001319947.2:c.-351C>T, NM_001319947.1:c.-351C>T, XM_011540523.4:c.30G>A, XM_011540523.3:c.30G>A, XM_011540523.2:c.30G>A, XM_011540523.1:c.30G>A, XM_011540525.4:c.30G>A, XM_011540525.3:c.30G>A, XM_011540525.2:c.30G>A, XM_011540525.1:c.30G>A, XM_017000091.3:c.30G>A, XM_017000091.2:c.30G>A, XM_017000091.1:c.30G>A, XM_017000093.3:c.30G>A, XM_017000093.2:c.30G>A, XM_017000093.1:c.30G>A, XM_024452423.2:c.30G>A, XM_024452423.1:c.30G>A, XM_017000090.2:c.30G>A, XM_017000090.1:c.30G>A, XM_024452435.2:c.30G>A, XM_024452435.1:c.30G>A, XM_024452441.2:c.30G>A, XM_024452441.1:c.30G>A, XM_047438847.1:c.30G>A, XR_007066904.1:n.193G>A, XM_047439052.1:c.30G>A

                      11.

                      rs1490542033 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:113895419 (GRCh38)
                        1:114438041 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:113895418:G:A
                        Gene:
                        AP4B1 (Varview), AP4B1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.113895419G>A, NC_000001.10:g.114438041G>A, NG_031901.1:g.14701C>T, NM_006594.5:c.1866C>T, NM_006594.4:c.1866C>T, NM_006594.3:c.1866C>T, NM_001253852.3:c.1866C>T, NM_001253852.2:c.1866C>T, NM_001253852.1:c.1866C>T, NM_001253853.3:c.1569C>T, NM_001253853.2:c.1569C>T, NM_001253853.1:c.1569C>T, NM_001308312.2:c.1362C>T, NM_001308312.1:c.1362C>T, XM_011540523.4:c.1641C>T, XM_011540523.3:c.1641C>T, XM_011540523.2:c.1641C>T, XM_011540523.1:c.1641C>T, XM_011540525.4:c.1587C>T, XM_011540525.3:c.1587C>T, XM_011540525.2:c.1587C>T, XM_011540525.1:c.1587C>T, XM_017000091.3:c.1275C>T, XM_017000091.2:c.1275C>T, XM_017000091.1:c.1275C>T, XM_024452423.2:c.1554C>T, XM_024452423.1:c.1554C>T, XM_017000090.2:c.1362C>T, XM_017000090.1:c.1362C>T, XM_024452435.2:c.1329C>T, XM_024452435.1:c.1329C>T, XM_024452441.2:c.1050C>T, XM_024452441.1:c.1050C>T, XM_047438847.1:c.1866C>T, XM_047439008.1:c.1248C>T, XM_047439078.1:c.891C>T

                        12.

                        rs1490511428 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:113896379 (GRCh38)
                          1:114439001 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:113896378:A:C
                          Gene:
                          AP4B1 (Varview), AP4B1-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.113896379A>C, NC_000001.10:g.114439001A>C, NG_031901.1:g.13741T>G, NM_006594.5:c.1389T>G, NM_006594.4:c.1389T>G, NM_006594.3:c.1389T>G, NM_001253852.3:c.1389T>G, NM_001253852.2:c.1389T>G, NM_001253852.1:c.1389T>G, NM_001253853.3:c.1092T>G, NM_001253853.2:c.1092T>G, NM_001253853.1:c.1092T>G, NM_001308312.2:c.885T>G, NM_001308312.1:c.885T>G, XM_011540523.4:c.1164T>G, XM_011540523.3:c.1164T>G, XM_011540523.2:c.1164T>G, XM_011540523.1:c.1164T>G, XM_011540525.4:c.1110T>G, XM_011540525.3:c.1110T>G, XM_011540525.2:c.1110T>G, XM_011540525.1:c.1110T>G, XM_017000090.2:c.885T>G, XM_017000090.1:c.885T>G, XM_047438847.1:c.1389T>G, XM_047439008.1:c.771T>G, XM_047439078.1:c.414T>G, NP_006585.2:p.Asn463Lys, NP_001240781.1:p.Asn463Lys, NP_001240782.1:p.Asn364Lys, NP_001295241.1:p.Asn295Lys, XP_011538825.1:p.Asn388Lys, XP_011538827.1:p.Asn370Lys, XP_016855579.1:p.Asn295Lys, XP_047294803.1:p.Asn463Lys, XP_047294964.1:p.Asn257Lys, XP_047295034.1:p.Asn138Lys

                          13.

                          rs1490319147 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ACACTG>- [Show Flanks]
                            Chromosome:
                            1:113903585 (GRCh38)
                            1:114446207 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:113903581:CTGACACTG:CTG
                            Gene:
                            AP4B1 (Varview), DCLRE1B (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CTG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490053073 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GGATAGAAG>- [Show Flanks]
                              Chromosome:
                              1:113899629 (GRCh38)
                              1:114442251 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:113899628:GGATAGAAG:
                              Gene:
                              AP4B1 (Varview), AP4B1-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1489936044 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:113898146 (GRCh38)
                                1:114440768 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:113898145:A:G
                                Gene:
                                AP4B1 (Varview), AP4B1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1489480862 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:113908792 (GRCh38)
                                  1:114451414 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:113908791:C:A
                                  Gene:
                                  DCLRE1B (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1489454918 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:113909323 (GRCh38)
                                    1:114451945 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:113909322:C:G
                                    Gene:
                                    DCLRE1B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    G=0.000029/4 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489398157 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:113908304 (GRCh38)
                                      1:114450926 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:113908303:A:G
                                      Gene:
                                      DCLRE1B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489327886 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:113902994 (GRCh38)
                                        1:114445616 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:113902993:T:C
                                        Gene:
                                        AP4B1 (Varview), DCLRE1B (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489234831 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:113893532 (GRCh38)
                                          1:114436154 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:113893531:G:A
                                          Gene:
                                          AP4B1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000053/14 (TOPMED)
                                          HGVS:

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