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Items: 1 to 20 of 2236

1.

rs1491537882 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->AAATTTTT [Show Flanks]
    Chromosome:
    4:142123411 (GRCh38)
    4:143044565 (GRCh37)
    Canonical SPDI:
    NC_000004.12:142123411::AAATTTTT
    Gene:
    INPP4B (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
    HGVS:
    NC_000004.12:g.142123411_142123412insAAATTTTT, NC_000004.11:g.143044564_143044565insAAATTTTT, NM_003866.3:c.1897_1898insAAAAATTT, NM_003866.2:c.1897_1898insAAAAATTT, NM_001101669.3:c.1897_1898insAAAAATTT, NM_001101669.2:c.1897_1898insAAAAATTT, NM_001101669.1:c.1897_1898insAAAAATTT, XM_011532391.3:c.1924_1925insAAAAATTT, XM_011532391.2:c.1924_1925insAAAAATTT, XM_011532391.1:c.1924_1925insAAAAATTT, XM_024454274.2:c.1897_1898insAAAAATTT, XM_024454274.1:c.1897_1898insAAAAATTT, XM_024454273.2:c.1924_1925insAAAAATTT, XM_024454273.1:c.1924_1925insAAAAATTT, XM_017008797.2:c.1606_1607insAAAAATTT, XM_017008797.1:c.1606_1607insAAAAATTT, XM_017008798.2:c.1369_1370insAAAAATTT, XM_017008798.1:c.1369_1370insAAAAATTT, NM_001385348.1:c.1897_1898insAAAAATTT, XM_047416359.1:c.1897_1898insAAAAATTT, XM_047416356.1:c.1897_1898insAAAAATTT, NM_001385344.1:c.1897_1898insAAAAATTT, NM_001385347.1:c.1897_1898insAAAAATTT, NM_001385339.1:c.1924_1925insAAAAATTT, NM_001385336.1:c.1897_1898insAAAAATTT, NM_001385338.1:c.1897_1898insAAAAATTT, NM_001385334.1:c.1897_1898insAAAAATTT, NM_001385343.1:c.1924_1925insAAAAATTT, NM_001385341.1:c.1897_1898insAAAAATTT, XM_047416357.1:c.1897_1898insAAAAATTT, NR_169615.1:n.2239_2240insAAAAATTT, NM_001385342.1:c.1897_1898insAAAAATTT, XM_047416362.1:c.1693_1694insAAAAATTT, XM_047416358.1:c.1897_1898insAAAAATTT, XM_047416360.1:c.1720_1721insAAAAATTT, XM_047416361.1:c.1693_1694insAAAAATTT, NM_001385379.1:c.1342_1343insAAAAATTT, NM_001385351.1:c.1492_1493insAAAAATTT, NR_169599.1:n.2006_2007insAAAAATTT, NR_169617.1:n.1999_2000insAAAAATTT, NM_001385452.1:c.1153_1154insAAAAATTT, NM_001385380.1:c.1342_1343insAAAAATTT, NM_001385455.1:c.1369_1370insAAAAATTT, NM_001385382.1:c.1342_1343insAAAAATTT, NR_169619.1:n.1883_1884insAAAAATTT, NR_169614.1:n.1887_1888insAAAAATTT, NM_001385383.1:c.1342_1343insAAAAATTT, NM_001385381.1:c.1342_1343insAAAAATTT, NR_169623.1:n.1861_1862insAAAAATTT, NM_001385350.1:c.1342_1343insAAAAATTT, NR_169618.1:n.1839_1840insAAAAATTT, NM_001385362.1:c.1138_1139insAAAAATTT, NR_169624.1:n.1795_1796insAAAAATTT, NR_169616.1:n.1779_1780insAAAAATTT, NM_001385461.1:c.1342_1343insAAAAATTT, NM_001385450.1:c.1165_1166insAAAAATTT, NM_001385357.1:c.1138_1139insAAAAATTT, NM_001385457.1:c.1342_1343insAAAAATTT, NM_001385458.1:c.1138_1139insAAAAATTT, NM_001331040.1:c.1897_1898insAAAAATTT, XM_047416353.1:c.1897_1898insAAAAATTT, XM_047416352.1:c.1897_1898insAAAAATTT, NM_001385335.1:c.1897_1898insAAAAATTT, XM_047416354.1:c.1897_1898insAAAAATTT, XM_047416363.1:c.1537_1538insAAAAATTT, NM_001385460.1:c.1510_1511insAAAAATTT, NM_001385459.1:c.1342_1343insAAAAATTT, XM_047416365.1:c.1924_1925insAAAAATTT, NP_003857.2:p.Ala633fs, NP_001095139.1:p.Ala633fs, XP_011530693.1:p.Ala642fs, XP_024310042.1:p.Ala633fs, XP_024310041.1:p.Ala642fs, XP_016864286.1:p.Ala536fs, XP_016864287.1:p.Ala457fs, NP_001372277.1:p.Ala633fs, XP_047272315.1:p.Ala633fs, XP_047272312.1:p.Ala633fs, NP_001372273.1:p.Ala633fs, NP_001372276.1:p.Ala633fs, NP_001372268.1:p.Ala642fs, NP_001372265.1:p.Ala633fs, NP_001372267.1:p.Ala633fs, NP_001372263.1:p.Ala633fs, NP_001372272.1:p.Ala642fs, NP_001372270.1:p.Ala633fs, XP_047272313.1:p.Ala633fs, NP_001372271.1:p.Ala633fs, XP_047272318.1:p.Ala565fs, XP_047272314.1:p.Ala633fs, XP_047272316.1:p.Ala574fs, XP_047272317.1:p.Ala565fs, NP_001372308.1:p.Ala448fs, NP_001372280.1:p.Ala498fs, NP_001372381.1:p.Ala385fs, NP_001372309.1:p.Ala448fs, NP_001372384.1:p.Ala457fs, NP_001372311.1:p.Ala448fs, NP_001372312.1:p.Ala448fs, NP_001372310.1:p.Ala448fs, NP_001372279.1:p.Ala448fs, NP_001372291.1:p.Ala380fs, NP_001372390.1:p.Ala448fs, NP_001372379.1:p.Ala389fs, NP_001372286.1:p.Ala380fs, NP_001372386.1:p.Ala448fs, NP_001372387.1:p.Ala380fs, NP_001317969.1:p.Ala633fs, XP_047272309.1:p.Ala633fs, XP_047272308.1:p.Ala633fs, NP_001372264.1:p.Ala633fs, XP_047272310.1:p.Ala633fs, XP_047272319.1:p.Ala513fs, NP_001372389.1:p.Ala504fs, NP_001372388.1:p.Ala448fs, XP_047272321.1:p.Ala642fs

    2.

    rs1491104182 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      4:142123411 (GRCh38)
      4:143044564 (GRCh37)
      Canonical SPDI:
      NC_000004.12:142123410:GC:
      Gene:
      INPP4B (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.0002/1 (Estonian)
      HGVS:
      NC_000004.12:g.142123411_142123412del, NC_000004.11:g.143044564_143044565del, NM_003866.3:c.1897_1898del, NM_003866.2:c.1897_1898del, NM_001101669.3:c.1897_1898del, NM_001101669.2:c.1897_1898del, NM_001101669.1:c.1897_1898del, XM_011532391.3:c.1924_1925del, XM_011532391.2:c.1924_1925del, XM_011532391.1:c.1924_1925del, XM_024454274.2:c.1897_1898del, XM_024454274.1:c.1897_1898del, XM_024454273.2:c.1924_1925del, XM_024454273.1:c.1924_1925del, XM_017008797.2:c.1606_1607del, XM_017008797.1:c.1606_1607del, XM_017008798.2:c.1369_1370del, XM_017008798.1:c.1369_1370del, NM_001385348.1:c.1897_1898del, XM_047416359.1:c.1897_1898del, XM_047416356.1:c.1897_1898del, NM_001385344.1:c.1897_1898del, NM_001385347.1:c.1897_1898del, NM_001385339.1:c.1924_1925del, NM_001385336.1:c.1897_1898del, NM_001385338.1:c.1897_1898del, NM_001385334.1:c.1897_1898del, NM_001385343.1:c.1924_1925del, NM_001385341.1:c.1897_1898del, XM_047416357.1:c.1897_1898del, NR_169615.1:n.2239_2240del, NM_001385342.1:c.1897_1898del, XM_047416362.1:c.1693_1694del, XM_047416358.1:c.1897_1898del, XM_047416360.1:c.1720_1721del, XM_047416361.1:c.1693_1694del, NM_001385379.1:c.1342_1343del, NM_001385351.1:c.1492_1493del, NR_169599.1:n.2006_2007del, NR_169617.1:n.1999_2000del, NM_001385452.1:c.1153_1154del, NM_001385380.1:c.1342_1343del, NM_001385455.1:c.1369_1370del, NM_001385382.1:c.1342_1343del, NR_169619.1:n.1883_1884del, NR_169614.1:n.1887_1888del, NM_001385383.1:c.1342_1343del, NM_001385381.1:c.1342_1343del, NR_169623.1:n.1861_1862del, NM_001385350.1:c.1342_1343del, NR_169618.1:n.1839_1840del, NM_001385362.1:c.1138_1139del, NR_169624.1:n.1795_1796del, NR_169616.1:n.1779_1780del, NM_001385461.1:c.1342_1343del, NM_001385450.1:c.1165_1166del, NM_001385357.1:c.1138_1139del, NM_001385457.1:c.1342_1343del, NM_001385458.1:c.1138_1139del, NM_001331040.1:c.1897_1898del, XM_047416353.1:c.1897_1898del, XM_047416352.1:c.1897_1898del, NM_001385335.1:c.1897_1898del, XM_047416354.1:c.1897_1898del, XM_047416363.1:c.1537_1538del, NM_001385460.1:c.1510_1511del, NM_001385459.1:c.1342_1343del, XM_047416365.1:c.1924_1925del, NP_003857.2:p.Ala633fs, NP_001095139.1:p.Ala633fs, XP_011530693.1:p.Ala642fs, XP_024310042.1:p.Ala633fs, XP_024310041.1:p.Ala642fs, XP_016864286.1:p.Ala536fs, XP_016864287.1:p.Ala457fs, NP_001372277.1:p.Ala633fs, XP_047272315.1:p.Ala633fs, XP_047272312.1:p.Ala633fs, NP_001372273.1:p.Ala633fs, NP_001372276.1:p.Ala633fs, NP_001372268.1:p.Ala642fs, NP_001372265.1:p.Ala633fs, NP_001372267.1:p.Ala633fs, NP_001372263.1:p.Ala633fs, NP_001372272.1:p.Ala642fs, NP_001372270.1:p.Ala633fs, XP_047272313.1:p.Ala633fs, NP_001372271.1:p.Ala633fs, XP_047272318.1:p.Ala565fs, XP_047272314.1:p.Ala633fs, XP_047272316.1:p.Ala574fs, XP_047272317.1:p.Ala565fs, NP_001372308.1:p.Ala448fs, NP_001372280.1:p.Ala498fs, NP_001372381.1:p.Ala385fs, NP_001372309.1:p.Ala448fs, NP_001372384.1:p.Ala457fs, NP_001372311.1:p.Ala448fs, NP_001372312.1:p.Ala448fs, NP_001372310.1:p.Ala448fs, NP_001372279.1:p.Ala448fs, NP_001372291.1:p.Ala380fs, NP_001372390.1:p.Ala448fs, NP_001372379.1:p.Ala389fs, NP_001372286.1:p.Ala380fs, NP_001372386.1:p.Ala448fs, NP_001372387.1:p.Ala380fs, NP_001317969.1:p.Ala633fs, XP_047272309.1:p.Ala633fs, XP_047272308.1:p.Ala633fs, NP_001372264.1:p.Ala633fs, XP_047272310.1:p.Ala633fs, XP_047272319.1:p.Ala513fs, NP_001372389.1:p.Ala504fs, NP_001372388.1:p.Ala448fs, XP_047272321.1:p.Ala642fs

      3.

      rs1491078071 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        4:142026071 (GRCh38)
        4:142947224 (GRCh37)
        Canonical SPDI:
        NC_000004.12:142026068:AGAG:AG
        Gene:
        INPP4B (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAG=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        -=0.000035/1 (TOMMO)
        HGVS:
        NC_000004.12:g.142026069AG[1], NC_000004.11:g.142947222AG[1], NM_003866.3:c.*2710CT[1], NM_001101669.3:c.*2710CT[1], NM_001101669.2:c.*2710CT[1], NM_001385348.1:c.*2882CT[1], XM_047416359.1:c.*2710CT[1], XM_047416356.1:c.*2710CT[1], NM_001385344.1:c.*2710CT[1], NM_001385347.1:c.*2882CT[1], NM_001385339.1:c.*2710CT[1], NM_001385336.1:c.*2710CT[1], NM_001385338.1:c.*2710CT[1], NM_001385334.1:c.*2710CT[1], NM_001385343.1:c.*2710CT[1], NM_001385341.1:c.*2710CT[1], XM_047416357.1:c.*2710CT[1], NR_169615.1:n.5827CT[1], NM_001385342.1:c.*2710CT[1], XM_047416362.1:c.*2710CT[1], XM_047416358.1:c.*2710CT[1], XM_047416360.1:c.*2710CT[1], XM_047416361.1:c.*2710CT[1], NM_001385379.1:c.*2710CT[1], NM_001385351.1:c.*2710CT[1], NR_169599.1:n.5594CT[1], NR_169617.1:n.5587CT[1], NM_001385452.1:c.*2710CT[1], NM_001385380.1:c.*2855CT[1], NM_001385455.1:c.*2710CT[1], NM_001385382.1:c.*2710CT[1], NR_169619.1:n.5479CT[1], NR_169614.1:n.5475CT[1], NM_001385383.1:c.*2710CT[1], NM_001385381.1:c.*2717CT[1], NR_169623.1:n.5449CT[1], NM_001385350.1:c.*2710CT[1], NR_169618.1:n.5427CT[1], NM_001385362.1:c.*2882CT[1], NR_169624.1:n.5383CT[1], NR_169616.1:n.5367CT[1], NM_001385461.1:c.*2710CT[1], NM_001385450.1:c.*2710CT[1], NM_001385357.1:c.*2710CT[1], NM_001385340.1:c.*2710CT[1], NM_001385457.1:c.*2710CT[1], NM_001385458.1:c.*2710CT[1], NM_001385454.1:c.*2710CT[1]

        4.

        rs1490993771 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          4:142024782 (GRCh38)
          4:142945935 (GRCh37)
          Canonical SPDI:
          NC_000004.12:142024781:T:G
          Gene:
          INPP4B (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000004.12:g.142024782T>G, NC_000004.11:g.142945935T>G, NM_003866.3:c.*4000A>C, NM_001101669.3:c.*4000A>C, NM_001101669.2:c.*4000A>C, NM_001385348.1:c.*4172A>C, XM_047416359.1:c.*4000A>C, XM_047416356.1:c.*4000A>C, NM_001385344.1:c.*4000A>C, NM_001385347.1:c.*4172A>C, NM_001385339.1:c.*4000A>C, NM_001385336.1:c.*4000A>C, NM_001385338.1:c.*4000A>C, NM_001385334.1:c.*4000A>C, NM_001385343.1:c.*4000A>C, NM_001385341.1:c.*4000A>C, XM_047416357.1:c.*4000A>C, NR_169615.1:n.7117A>C, NM_001385342.1:c.*4000A>C, XM_047416362.1:c.*4000A>C, XM_047416358.1:c.*4000A>C, XM_047416360.1:c.*4000A>C, XM_047416361.1:c.*4000A>C, NM_001385379.1:c.*4000A>C, NM_001385351.1:c.*4000A>C, NR_169599.1:n.6884A>C, NR_169617.1:n.6877A>C, NM_001385452.1:c.*4000A>C, NM_001385380.1:c.*4145A>C, NM_001385455.1:c.*4000A>C, NM_001385382.1:c.*4000A>C, NR_169619.1:n.6769A>C, NR_169614.1:n.6765A>C, NM_001385383.1:c.*4000A>C, NM_001385381.1:c.*4007A>C, NR_169623.1:n.6739A>C, NM_001385350.1:c.*4000A>C, NR_169618.1:n.6717A>C, NM_001385362.1:c.*4172A>C, NR_169624.1:n.6673A>C, NR_169616.1:n.6657A>C, NM_001385461.1:c.*4000A>C, NM_001385450.1:c.*4000A>C, NM_001385357.1:c.*4000A>C, NM_001385340.1:c.*4000A>C, NM_001385457.1:c.*4000A>C, NM_001385458.1:c.*4000A>C, NM_001385454.1:c.*4000A>C

          5.

          rs1490502779 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            4:142024336 (GRCh38)
            4:142945489 (GRCh37)
            Canonical SPDI:
            NC_000004.12:142024335:A:C
            Gene:
            INPP4B (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000004.12:g.142024336A>C, NC_000004.11:g.142945489A>C, NM_003866.3:c.*4446T>G, NM_001101669.3:c.*4446T>G, NM_001101669.2:c.*4446T>G, NM_001385348.1:c.*4618T>G, XM_047416359.1:c.*4446T>G, XM_047416356.1:c.*4446T>G, NM_001385344.1:c.*4446T>G, NM_001385347.1:c.*4618T>G, NM_001385339.1:c.*4446T>G, NM_001385336.1:c.*4446T>G, NM_001385338.1:c.*4446T>G, NM_001385334.1:c.*4446T>G, NM_001385343.1:c.*4446T>G, NM_001385341.1:c.*4446T>G, XM_047416357.1:c.*4446T>G, NR_169615.1:n.7563T>G, NM_001385342.1:c.*4446T>G, XM_047416362.1:c.*4446T>G, XM_047416358.1:c.*4446T>G, XM_047416360.1:c.*4446T>G, XM_047416361.1:c.*4446T>G, NM_001385379.1:c.*4446T>G, NM_001385351.1:c.*4446T>G, NR_169599.1:n.7330T>G, NR_169617.1:n.7323T>G, NM_001385452.1:c.*4446T>G, NM_001385380.1:c.*4591T>G, NM_001385455.1:c.*4446T>G, NM_001385382.1:c.*4446T>G, NR_169619.1:n.7215T>G, NR_169614.1:n.7211T>G, NM_001385383.1:c.*4446T>G, NM_001385381.1:c.*4453T>G, NR_169623.1:n.7185T>G, NM_001385350.1:c.*4446T>G, NR_169618.1:n.7163T>G, NM_001385362.1:c.*4618T>G, NR_169624.1:n.7119T>G, NR_169616.1:n.7103T>G, NM_001385461.1:c.*4446T>G, NM_001385450.1:c.*4446T>G, NM_001385357.1:c.*4446T>G, NM_001385340.1:c.*4446T>G, NM_001385457.1:c.*4446T>G, NM_001385458.1:c.*4446T>G, NM_001385454.1:c.*4446T>G

            6.

            rs1490476686 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              4:142025426 (GRCh38)
              4:142946579 (GRCh37)
              Canonical SPDI:
              NC_000004.12:142025425:T:G
              Gene:
              INPP4B (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000004.12:g.142025426T>G, NC_000004.11:g.142946579T>G, NM_003866.3:c.*3356A>C, NM_001101669.3:c.*3356A>C, NM_001101669.2:c.*3356A>C, NM_001385348.1:c.*3528A>C, XM_047416359.1:c.*3356A>C, XM_047416356.1:c.*3356A>C, NM_001385344.1:c.*3356A>C, NM_001385347.1:c.*3528A>C, NM_001385339.1:c.*3356A>C, NM_001385336.1:c.*3356A>C, NM_001385338.1:c.*3356A>C, NM_001385334.1:c.*3356A>C, NM_001385343.1:c.*3356A>C, NM_001385341.1:c.*3356A>C, XM_047416357.1:c.*3356A>C, NR_169615.1:n.6473A>C, NM_001385342.1:c.*3356A>C, XM_047416362.1:c.*3356A>C, XM_047416358.1:c.*3356A>C, XM_047416360.1:c.*3356A>C, XM_047416361.1:c.*3356A>C, NM_001385379.1:c.*3356A>C, NM_001385351.1:c.*3356A>C, NR_169599.1:n.6240A>C, NR_169617.1:n.6233A>C, NM_001385452.1:c.*3356A>C, NM_001385380.1:c.*3501A>C, NM_001385455.1:c.*3356A>C, NM_001385382.1:c.*3356A>C, NR_169619.1:n.6125A>C, NR_169614.1:n.6121A>C, NM_001385383.1:c.*3356A>C, NM_001385381.1:c.*3363A>C, NR_169623.1:n.6095A>C, NM_001385350.1:c.*3356A>C, NR_169618.1:n.6073A>C, NM_001385362.1:c.*3528A>C, NR_169624.1:n.6029A>C, NR_169616.1:n.6013A>C, NM_001385461.1:c.*3356A>C, NM_001385450.1:c.*3356A>C, NM_001385357.1:c.*3356A>C, NM_001385340.1:c.*3356A>C, NM_001385457.1:c.*3356A>C, NM_001385458.1:c.*3356A>C, NM_001385454.1:c.*3356A>C

              7.

              rs1490010789 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTTT [Show Flanks]
                Chromosome:
                4:142023868 (GRCh38)
                4:142945022 (GRCh37)
                Canonical SPDI:
                NC_000004.12:142023868:TCTTT:TCTTTCTTT
                Gene:
                INPP4B (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TCTTTCTTT=0./0 (ALFA)
                TCTT=0.000008/2 (TOPMED)
                TCTT=0.000014/2 (GnomAD)
                HGVS:
                NC_000004.12:g.142023870_142023873dup, NC_000004.11:g.142945023_142945026dup, NM_003866.3:c.*4910_*4913dup, NM_001101669.3:c.*4910_*4913dup, NM_001101669.2:c.*4910_*4913dup, NM_001385348.1:c.*5082_*5085dup, XM_047416359.1:c.*4910_*4913dup, XM_047416356.1:c.*4910_*4913dup, NM_001385344.1:c.*4910_*4913dup, NM_001385347.1:c.*5082_*5085dup, NM_001385339.1:c.*4910_*4913dup, NM_001385336.1:c.*4910_*4913dup, NM_001385338.1:c.*4910_*4913dup, NM_001385334.1:c.*4910_*4913dup, NM_001385343.1:c.*4910_*4913dup, NM_001385341.1:c.*4910_*4913dup, XM_047416357.1:c.*4910_*4913dup, NR_169615.1:n.8027_8030dup, NM_001385342.1:c.*4910_*4913dup, XM_047416362.1:c.*4910_*4913dup, XM_047416358.1:c.*4910_*4913dup, XM_047416360.1:c.*4910_*4913dup, XM_047416361.1:c.*4910_*4913dup, NM_001385379.1:c.*4910_*4913dup, NM_001385351.1:c.*4910_*4913dup, NR_169599.1:n.7794_7797dup, NR_169617.1:n.7787_7790dup, NM_001385452.1:c.*4910_*4913dup, NM_001385380.1:c.*5055_*5058dup, NM_001385455.1:c.*4910_*4913dup, NM_001385382.1:c.*4910_*4913dup, NR_169619.1:n.7679_7682dup, NR_169614.1:n.7675_7678dup, NM_001385383.1:c.*4910_*4913dup, NM_001385381.1:c.*4917_*4920dup, NR_169623.1:n.7649_7652dup, NM_001385350.1:c.*4910_*4913dup, NR_169618.1:n.7627_7630dup, NM_001385362.1:c.*5082_*5085dup, NR_169624.1:n.7583_7586dup, NR_169616.1:n.7567_7570dup, NM_001385461.1:c.*4910_*4913dup, NM_001385450.1:c.*4910_*4913dup, NM_001385357.1:c.*4910_*4913dup, NM_001385340.1:c.*4910_*4913dup, NM_001385457.1:c.*4910_*4913dup, NM_001385458.1:c.*4910_*4913dup, NM_001385454.1:c.*4910_*4913dup

                8.

                rs1489799083 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:142429208 (GRCh38)
                  4:143350361 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:142429207:T:C
                  Gene:
                  INPP4B (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  HGVS:
                  NC_000004.12:g.142429208T>C, NC_000004.11:g.143350361T>C, NM_003866.3:c.101A>G, NM_003866.2:c.101A>G, NM_001101669.3:c.101A>G, NM_001101669.2:c.101A>G, NM_001101669.1:c.101A>G, XM_011532391.3:c.101A>G, XM_011532391.2:c.101A>G, XM_011532391.1:c.101A>G, XM_024454274.2:c.101A>G, XM_024454274.1:c.101A>G, XM_024454273.2:c.101A>G, XM_024454273.1:c.101A>G, NM_001385348.1:c.101A>G, XM_047416359.1:c.101A>G, XM_047416356.1:c.101A>G, NM_001385344.1:c.101A>G, NM_001385347.1:c.101A>G, NM_001385339.1:c.101A>G, NM_001385336.1:c.101A>G, NM_001385338.1:c.101A>G, NM_001385334.1:c.101A>G, NM_001385343.1:c.101A>G, NM_001385341.1:c.101A>G, XM_047416357.1:c.101A>G, NR_169615.1:n.487A>G, NM_001385342.1:c.101A>G, XM_047416362.1:c.101A>G, XM_047416358.1:c.101A>G, XM_047416360.1:c.101A>G, XM_047416361.1:c.101A>G, NR_169617.1:n.487A>G, NM_001385340.1:c.101A>G, XM_047416368.1:c.101A>G, NM_001331040.1:c.101A>G, XM_047416353.1:c.101A>G, XM_047416366.1:c.101A>G, XM_047416367.1:c.101A>G, XM_047416352.1:c.101A>G, NM_001385335.1:c.101A>G, XM_047416354.1:c.101A>G, NM_001385337.1:c.101A>G, XM_047416365.1:c.101A>G, XR_007057981.1:n.487A>G, NP_003857.2:p.Lys34Arg, NP_001095139.1:p.Lys34Arg, XP_011530693.1:p.Lys34Arg, XP_024310042.1:p.Lys34Arg, XP_024310041.1:p.Lys34Arg, NP_001372277.1:p.Lys34Arg, XP_047272315.1:p.Lys34Arg, XP_047272312.1:p.Lys34Arg, NP_001372273.1:p.Lys34Arg, NP_001372276.1:p.Lys34Arg, NP_001372268.1:p.Lys34Arg, NP_001372265.1:p.Lys34Arg, NP_001372267.1:p.Lys34Arg, NP_001372263.1:p.Lys34Arg, NP_001372272.1:p.Lys34Arg, NP_001372270.1:p.Lys34Arg, XP_047272313.1:p.Lys34Arg, NP_001372271.1:p.Lys34Arg, XP_047272318.1:p.Lys34Arg, XP_047272314.1:p.Lys34Arg, XP_047272316.1:p.Lys34Arg, XP_047272317.1:p.Lys34Arg, NP_001372269.1:p.Lys34Arg, XP_047272324.1:p.Lys34Arg, NP_001317969.1:p.Lys34Arg, XP_047272309.1:p.Lys34Arg, XP_047272322.1:p.Lys34Arg, XP_047272323.1:p.Lys34Arg, XP_047272308.1:p.Lys34Arg, NP_001372264.1:p.Lys34Arg, XP_047272310.1:p.Lys34Arg, NP_001372266.1:p.Lys34Arg, XP_047272321.1:p.Lys34Arg

                  9.

                  rs1489249103 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    4:142023848 (GRCh38)
                    4:142945001 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:142023847:G:T
                    Gene:
                    INPP4B (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000026/7 (TOPMED)
                    HGVS:
                    NC_000004.12:g.142023848G>T, NC_000004.11:g.142945001G>T, NM_003866.3:c.*4934C>A, NM_001101669.3:c.*4934C>A, NM_001101669.2:c.*4934C>A, NM_001385348.1:c.*5106C>A, XM_047416359.1:c.*4934C>A, XM_047416356.1:c.*4934C>A, NM_001385344.1:c.*4934C>A, NM_001385347.1:c.*5106C>A, NM_001385339.1:c.*4934C>A, NM_001385336.1:c.*4934C>A, NM_001385338.1:c.*4934C>A, NM_001385334.1:c.*4934C>A, NM_001385343.1:c.*4934C>A, NM_001385341.1:c.*4934C>A, XM_047416357.1:c.*4934C>A, NR_169615.1:n.8051C>A, NM_001385342.1:c.*4934C>A, XM_047416362.1:c.*4934C>A, XM_047416358.1:c.*4934C>A, XM_047416360.1:c.*4934C>A, XM_047416361.1:c.*4934C>A, NM_001385379.1:c.*4934C>A, NM_001385351.1:c.*4934C>A, NR_169599.1:n.7818C>A, NR_169617.1:n.7811C>A, NM_001385452.1:c.*4934C>A, NM_001385380.1:c.*5079C>A, NM_001385455.1:c.*4934C>A, NM_001385382.1:c.*4934C>A, NR_169619.1:n.7703C>A, NR_169614.1:n.7699C>A, NM_001385383.1:c.*4934C>A, NM_001385381.1:c.*4941C>A, NR_169623.1:n.7673C>A, NM_001385350.1:c.*4934C>A, NR_169618.1:n.7651C>A, NM_001385362.1:c.*5106C>A, NR_169624.1:n.7607C>A, NR_169616.1:n.7591C>A, NM_001385461.1:c.*4934C>A, NM_001385450.1:c.*4934C>A, NM_001385357.1:c.*4934C>A, NM_001385340.1:c.*4934C>A, NM_001385457.1:c.*4934C>A, NM_001385458.1:c.*4934C>A, NM_001385454.1:c.*4934C>A

                    10.

                    rs1489120482 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:142026203 (GRCh38)
                      4:142947356 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:142026202:T:C
                      Gene:
                      INPP4B (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000004.12:g.142026203T>C, NC_000004.11:g.142947356T>C, NM_003866.3:c.*2579A>G, NM_001101669.3:c.*2579A>G, NM_001101669.2:c.*2579A>G, NM_001385348.1:c.*2751A>G, XM_047416359.1:c.*2579A>G, XM_047416356.1:c.*2579A>G, NM_001385344.1:c.*2579A>G, NM_001385347.1:c.*2751A>G, NM_001385339.1:c.*2579A>G, NM_001385336.1:c.*2579A>G, NM_001385338.1:c.*2579A>G, NM_001385334.1:c.*2579A>G, NM_001385343.1:c.*2579A>G, NM_001385341.1:c.*2579A>G, XM_047416357.1:c.*2579A>G, NR_169615.1:n.5696A>G, NM_001385342.1:c.*2579A>G, XM_047416362.1:c.*2579A>G, XM_047416358.1:c.*2579A>G, XM_047416360.1:c.*2579A>G, XM_047416361.1:c.*2579A>G, NM_001385379.1:c.*2579A>G, NM_001385351.1:c.*2579A>G, NR_169599.1:n.5463A>G, NR_169617.1:n.5456A>G, NM_001385452.1:c.*2579A>G, NM_001385380.1:c.*2724A>G, NM_001385455.1:c.*2579A>G, NM_001385382.1:c.*2579A>G, NR_169619.1:n.5348A>G, NR_169614.1:n.5344A>G, NM_001385383.1:c.*2579A>G, NM_001385381.1:c.*2586A>G, NR_169623.1:n.5318A>G, NM_001385350.1:c.*2579A>G, NR_169618.1:n.5296A>G, NM_001385362.1:c.*2751A>G, NR_169624.1:n.5252A>G, NR_169616.1:n.5236A>G, NM_001385461.1:c.*2579A>G, NM_001385450.1:c.*2579A>G, NM_001385357.1:c.*2579A>G, NM_001385340.1:c.*2579A>G, NM_001385457.1:c.*2579A>G, NM_001385458.1:c.*2579A>G, NM_001385454.1:c.*2579A>G

                      11.

                      rs1488856713 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        4:142028040 (GRCh38)
                        4:142949193 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:142028039:G:T
                        Gene:
                        INPP4B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000004.12:g.142028040G>T, NC_000004.11:g.142949193G>T, NM_003866.3:c.*742C>A, NM_003866.2:c.*742C>A, NM_001101669.3:c.*742C>A, NM_001101669.2:c.*742C>A, NM_001101669.1:c.*742C>A, NM_001385348.1:c.*914C>A, XM_047416359.1:c.*742C>A, XM_047416356.1:c.*742C>A, NM_001385344.1:c.*742C>A, NM_001385347.1:c.*914C>A, NM_001385339.1:c.*742C>A, NM_001385336.1:c.*742C>A, NM_001385338.1:c.*742C>A, NM_001385334.1:c.*742C>A, NM_001385343.1:c.*742C>A, NM_001385341.1:c.*742C>A, XM_047416357.1:c.*742C>A, NR_169615.1:n.3859C>A, NM_001385342.1:c.*742C>A, XM_047416362.1:c.*742C>A, XM_047416358.1:c.*742C>A, XM_047416360.1:c.*742C>A, XM_047416361.1:c.*742C>A, NM_001385379.1:c.*742C>A, NM_001385351.1:c.*742C>A, NR_169599.1:n.3626C>A, NR_169617.1:n.3619C>A, NM_001385452.1:c.*742C>A, NM_001385380.1:c.*887C>A, NM_001385455.1:c.*742C>A, NM_001385382.1:c.*742C>A, NR_169619.1:n.3511C>A, NR_169614.1:n.3507C>A, NM_001385383.1:c.*742C>A, NM_001385381.1:c.*749C>A, NR_169623.1:n.3481C>A, NM_001385350.1:c.*742C>A, NR_169618.1:n.3459C>A, NM_001385362.1:c.*914C>A, NR_169624.1:n.3415C>A, NR_169616.1:n.3399C>A, NM_001385461.1:c.*742C>A, NM_001385450.1:c.*742C>A, NM_001385357.1:c.*742C>A, NM_001385340.1:c.*742C>A, NM_001385457.1:c.*742C>A, NM_001385458.1:c.*742C>A, NM_001385454.1:c.*742C>A

                        12.

                        rs1488644229 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CAT [Show Flanks]
                          Chromosome:
                          4:142027828 (GRCh38)
                          4:142948982 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:142027828:ATCAT:ATCATCAT
                          Gene:
                          INPP4B (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ATCATCAT=0./0 (ALFA)
                          ATC=0.000057/15 (TOPMED)
                          HGVS:
                          NC_000004.12:g.142027831_142027833dup, NC_000004.11:g.142948984_142948986dup, NM_003866.3:c.*951_*953dup, NM_001101669.3:c.*951_*953dup, NM_001101669.2:c.*951_*953dup, NM_001385348.1:c.*1123_*1125dup, XM_047416359.1:c.*951_*953dup, XM_047416356.1:c.*951_*953dup, NM_001385344.1:c.*951_*953dup, NM_001385347.1:c.*1123_*1125dup, NM_001385339.1:c.*951_*953dup, NM_001385336.1:c.*951_*953dup, NM_001385338.1:c.*951_*953dup, NM_001385334.1:c.*951_*953dup, NM_001385343.1:c.*951_*953dup, NM_001385341.1:c.*951_*953dup, XM_047416357.1:c.*951_*953dup, NR_169615.1:n.4068_4070dup, NM_001385342.1:c.*951_*953dup, XM_047416362.1:c.*951_*953dup, XM_047416358.1:c.*951_*953dup, XM_047416360.1:c.*951_*953dup, XM_047416361.1:c.*951_*953dup, NM_001385379.1:c.*951_*953dup, NM_001385351.1:c.*951_*953dup, NR_169599.1:n.3835_3837dup, NR_169617.1:n.3828_3830dup, NM_001385452.1:c.*951_*953dup, NM_001385380.1:c.*1096_*1098dup, NM_001385455.1:c.*951_*953dup, NM_001385382.1:c.*951_*953dup, NR_169619.1:n.3720_3722dup, NR_169614.1:n.3716_3718dup, NM_001385383.1:c.*951_*953dup, NM_001385381.1:c.*958_*960dup, NR_169623.1:n.3690_3692dup, NM_001385350.1:c.*951_*953dup, NR_169618.1:n.3668_3670dup, NM_001385362.1:c.*1123_*1125dup, NR_169624.1:n.3624_3626dup, NR_169616.1:n.3608_3610dup, NM_001385461.1:c.*951_*953dup, NM_001385450.1:c.*951_*953dup, NM_001385357.1:c.*951_*953dup, NM_001385340.1:c.*951_*953dup, NM_001385457.1:c.*951_*953dup, NM_001385458.1:c.*951_*953dup, NM_001385454.1:c.*951_*953dup

                          13.

                          rs1488576179 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CTTT [Show Flanks]
                            Chromosome:
                            4:142027529 (GRCh38)
                            4:142948683 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:142027529:TTTCTTT:TTTCTTTCTTT
                            Gene:
                            INPP4B (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTCTTTCTTT=0./0 (ALFA)
                            TTTC=0.000004/1 (TOPMED)
                            TTTC=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000004.12:g.142027533_142027536dup, NC_000004.11:g.142948686_142948689dup, NM_003866.3:c.*1249_*1252dup, NM_001101669.3:c.*1249_*1252dup, NM_001101669.2:c.*1249_*1252dup, NM_001385348.1:c.*1421_*1424dup, XM_047416359.1:c.*1249_*1252dup, XM_047416356.1:c.*1249_*1252dup, NM_001385344.1:c.*1249_*1252dup, NM_001385347.1:c.*1421_*1424dup, NM_001385339.1:c.*1249_*1252dup, NM_001385336.1:c.*1249_*1252dup, NM_001385338.1:c.*1249_*1252dup, NM_001385334.1:c.*1249_*1252dup, NM_001385343.1:c.*1249_*1252dup, NM_001385341.1:c.*1249_*1252dup, XM_047416357.1:c.*1249_*1252dup, NR_169615.1:n.4366_4369dup, NM_001385342.1:c.*1249_*1252dup, XM_047416362.1:c.*1249_*1252dup, XM_047416358.1:c.*1249_*1252dup, XM_047416360.1:c.*1249_*1252dup, XM_047416361.1:c.*1249_*1252dup, NM_001385379.1:c.*1249_*1252dup, NM_001385351.1:c.*1249_*1252dup, NR_169599.1:n.4133_4136dup, NR_169617.1:n.4126_4129dup, NM_001385452.1:c.*1249_*1252dup, NM_001385380.1:c.*1394_*1397dup, NM_001385455.1:c.*1249_*1252dup, NM_001385382.1:c.*1249_*1252dup, NR_169619.1:n.4018_4021dup, NR_169614.1:n.4014_4017dup, NM_001385383.1:c.*1249_*1252dup, NM_001385381.1:c.*1256_*1259dup, NR_169623.1:n.3988_3991dup, NM_001385350.1:c.*1249_*1252dup, NR_169618.1:n.3966_3969dup, NM_001385362.1:c.*1421_*1424dup, NR_169624.1:n.3922_3925dup, NR_169616.1:n.3906_3909dup, NM_001385461.1:c.*1249_*1252dup, NM_001385450.1:c.*1249_*1252dup, NM_001385357.1:c.*1249_*1252dup, NM_001385340.1:c.*1249_*1252dup, NM_001385457.1:c.*1249_*1252dup, NM_001385458.1:c.*1249_*1252dup, NM_001385454.1:c.*1249_*1252dup

                            14.

                            rs1488138564 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              4:142024924 (GRCh38)
                              4:142946077 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:142024923:T:G
                              Gene:
                              INPP4B (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000004.12:g.142024924T>G, NC_000004.11:g.142946077T>G, NM_003866.3:c.*3858A>C, NM_001101669.3:c.*3858A>C, NM_001101669.2:c.*3858A>C, NM_001385348.1:c.*4030A>C, XM_047416359.1:c.*3858A>C, XM_047416356.1:c.*3858A>C, NM_001385344.1:c.*3858A>C, NM_001385347.1:c.*4030A>C, NM_001385339.1:c.*3858A>C, NM_001385336.1:c.*3858A>C, NM_001385338.1:c.*3858A>C, NM_001385334.1:c.*3858A>C, NM_001385343.1:c.*3858A>C, NM_001385341.1:c.*3858A>C, XM_047416357.1:c.*3858A>C, NR_169615.1:n.6975A>C, NM_001385342.1:c.*3858A>C, XM_047416362.1:c.*3858A>C, XM_047416358.1:c.*3858A>C, XM_047416360.1:c.*3858A>C, XM_047416361.1:c.*3858A>C, NM_001385379.1:c.*3858A>C, NM_001385351.1:c.*3858A>C, NR_169599.1:n.6742A>C, NR_169617.1:n.6735A>C, NM_001385452.1:c.*3858A>C, NM_001385380.1:c.*4003A>C, NM_001385455.1:c.*3858A>C, NM_001385382.1:c.*3858A>C, NR_169619.1:n.6627A>C, NR_169614.1:n.6623A>C, NM_001385383.1:c.*3858A>C, NM_001385381.1:c.*3865A>C, NR_169623.1:n.6597A>C, NM_001385350.1:c.*3858A>C, NR_169618.1:n.6575A>C, NM_001385362.1:c.*4030A>C, NR_169624.1:n.6531A>C, NR_169616.1:n.6515A>C, NM_001385461.1:c.*3858A>C, NM_001385450.1:c.*3858A>C, NM_001385357.1:c.*3858A>C, NM_001385340.1:c.*3858A>C, NM_001385457.1:c.*3858A>C, NM_001385458.1:c.*3858A>C, NM_001385454.1:c.*3858A>C

                              15.

                              rs1487665436 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:142027430 (GRCh38)
                                4:142948583 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:142027429:C:T
                                Gene:
                                INPP4B (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000004.12:g.142027430C>T, NC_000004.11:g.142948583C>T, NM_003866.3:c.*1352G>A, NM_001101669.3:c.*1352G>A, NM_001101669.2:c.*1352G>A, NM_001385348.1:c.*1524G>A, XM_047416359.1:c.*1352G>A, XM_047416356.1:c.*1352G>A, NM_001385344.1:c.*1352G>A, NM_001385347.1:c.*1524G>A, NM_001385339.1:c.*1352G>A, NM_001385336.1:c.*1352G>A, NM_001385338.1:c.*1352G>A, NM_001385334.1:c.*1352G>A, NM_001385343.1:c.*1352G>A, NM_001385341.1:c.*1352G>A, XM_047416357.1:c.*1352G>A, NR_169615.1:n.4469G>A, NM_001385342.1:c.*1352G>A, XM_047416362.1:c.*1352G>A, XM_047416358.1:c.*1352G>A, XM_047416360.1:c.*1352G>A, XM_047416361.1:c.*1352G>A, NM_001385379.1:c.*1352G>A, NM_001385351.1:c.*1352G>A, NR_169599.1:n.4236G>A, NR_169617.1:n.4229G>A, NM_001385452.1:c.*1352G>A, NM_001385380.1:c.*1497G>A, NM_001385455.1:c.*1352G>A, NM_001385382.1:c.*1352G>A, NR_169619.1:n.4121G>A, NR_169614.1:n.4117G>A, NM_001385383.1:c.*1352G>A, NM_001385381.1:c.*1359G>A, NR_169623.1:n.4091G>A, NM_001385350.1:c.*1352G>A, NR_169618.1:n.4069G>A, NM_001385362.1:c.*1524G>A, NR_169624.1:n.4025G>A, NR_169616.1:n.4009G>A, NM_001385461.1:c.*1352G>A, NM_001385450.1:c.*1352G>A, NM_001385357.1:c.*1352G>A, NM_001385340.1:c.*1352G>A, NM_001385457.1:c.*1352G>A, NM_001385458.1:c.*1352G>A, NM_001385454.1:c.*1352G>A

                                16.

                                rs1485855077 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:142028551 (GRCh38)
                                  4:142949704 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:142028550:A:G
                                  Gene:
                                  INPP4B (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.142028551A>G, NC_000004.11:g.142949704A>G, NM_003866.3:c.*231T>C, NM_003866.2:c.*231T>C, NM_001101669.3:c.*231T>C, NM_001101669.2:c.*231T>C, NM_001101669.1:c.*231T>C, NM_001385348.1:c.*403T>C, XM_047416359.1:c.*231T>C, XM_047416356.1:c.*231T>C, NM_001385344.1:c.*231T>C, NM_001385347.1:c.*403T>C, NM_001385339.1:c.*231T>C, NM_001385336.1:c.*231T>C, NM_001385338.1:c.*231T>C, NM_001385334.1:c.*231T>C, NM_001385343.1:c.*231T>C, NM_001385341.1:c.*231T>C, XM_047416357.1:c.*231T>C, NR_169615.1:n.3348T>C, NM_001385342.1:c.*231T>C, XM_047416362.1:c.*231T>C, XM_047416358.1:c.*231T>C, XM_047416360.1:c.*231T>C, XM_047416361.1:c.*231T>C, NM_001385379.1:c.*231T>C, NM_001385351.1:c.*231T>C, NR_169599.1:n.3115T>C, NR_169617.1:n.3108T>C, NM_001385452.1:c.*231T>C, NM_001385380.1:c.*376T>C, NM_001385455.1:c.*231T>C, NM_001385382.1:c.*231T>C, NR_169619.1:n.3000T>C, NR_169614.1:n.2996T>C, NM_001385383.1:c.*231T>C, NM_001385381.1:c.*238T>C, NR_169623.1:n.2970T>C, NM_001385350.1:c.*231T>C, NR_169618.1:n.2948T>C, NM_001385362.1:c.*403T>C, NR_169624.1:n.2904T>C, NR_169616.1:n.2888T>C, NM_001385461.1:c.*231T>C, NM_001385450.1:c.*231T>C, NM_001385357.1:c.*231T>C, NM_001385340.1:c.*231T>C, NM_001385457.1:c.*231T>C, NM_001385458.1:c.*231T>C, NM_001385454.1:c.*231T>C

                                  17.

                                  rs1485649339 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAT>- [Show Flanks]
                                    Chromosome:
                                    4:142027756 (GRCh38)
                                    4:142948909 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:142027753:ATAAAT:AT
                                    Gene:
                                    INPP4B (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AT=0./0 (ALFA)
                                    -=0.000021/3 (GnomAD)
                                    -=0.00003/8 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.142027756_142027759del, NC_000004.11:g.142948909_142948912del, NM_003866.3:c.*1025_*1028del, NM_001101669.3:c.*1025_*1028del, NM_001101669.2:c.*1025_*1028del, NM_001385348.1:c.*1197_*1200del, XM_047416359.1:c.*1025_*1028del, XM_047416356.1:c.*1025_*1028del, NM_001385344.1:c.*1025_*1028del, NM_001385347.1:c.*1197_*1200del, NM_001385339.1:c.*1025_*1028del, NM_001385336.1:c.*1025_*1028del, NM_001385338.1:c.*1025_*1028del, NM_001385334.1:c.*1025_*1028del, NM_001385343.1:c.*1025_*1028del, NM_001385341.1:c.*1025_*1028del, XM_047416357.1:c.*1025_*1028del, NR_169615.1:n.4142_4145del, NM_001385342.1:c.*1025_*1028del, XM_047416362.1:c.*1025_*1028del, XM_047416358.1:c.*1025_*1028del, XM_047416360.1:c.*1025_*1028del, XM_047416361.1:c.*1025_*1028del, NM_001385379.1:c.*1025_*1028del, NM_001385351.1:c.*1025_*1028del, NR_169599.1:n.3909_3912del, NR_169617.1:n.3902_3905del, NM_001385452.1:c.*1025_*1028del, NM_001385380.1:c.*1170_*1173del, NM_001385455.1:c.*1025_*1028del, NM_001385382.1:c.*1025_*1028del, NR_169619.1:n.3794_3797del, NR_169614.1:n.3790_3793del, NM_001385383.1:c.*1025_*1028del, NM_001385381.1:c.*1032_*1035del, NR_169623.1:n.3764_3767del, NM_001385350.1:c.*1025_*1028del, NR_169618.1:n.3742_3745del, NM_001385362.1:c.*1197_*1200del, NR_169624.1:n.3698_3701del, NR_169616.1:n.3682_3685del, NM_001385461.1:c.*1025_*1028del, NM_001385450.1:c.*1025_*1028del, NM_001385357.1:c.*1025_*1028del, NM_001385340.1:c.*1025_*1028del, NM_001385457.1:c.*1025_*1028del, NM_001385458.1:c.*1025_*1028del, NM_001385454.1:c.*1025_*1028del

                                    18.

                                    rs1485515032 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      4:142025271 (GRCh38)
                                      4:142946424 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:142025270:G:C
                                      Gene:
                                      INPP4B (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.142025271G>C, NC_000004.11:g.142946424G>C, NM_003866.3:c.*3511C>G, NM_001101669.3:c.*3511C>G, NM_001101669.2:c.*3511C>G, NM_001385348.1:c.*3683C>G, XM_047416359.1:c.*3511C>G, XM_047416356.1:c.*3511C>G, NM_001385344.1:c.*3511C>G, NM_001385347.1:c.*3683C>G, NM_001385339.1:c.*3511C>G, NM_001385336.1:c.*3511C>G, NM_001385338.1:c.*3511C>G, NM_001385334.1:c.*3511C>G, NM_001385343.1:c.*3511C>G, NM_001385341.1:c.*3511C>G, XM_047416357.1:c.*3511C>G, NR_169615.1:n.6628C>G, NM_001385342.1:c.*3511C>G, XM_047416362.1:c.*3511C>G, XM_047416358.1:c.*3511C>G, XM_047416360.1:c.*3511C>G, XM_047416361.1:c.*3511C>G, NM_001385379.1:c.*3511C>G, NM_001385351.1:c.*3511C>G, NR_169599.1:n.6395C>G, NR_169617.1:n.6388C>G, NM_001385452.1:c.*3511C>G, NM_001385380.1:c.*3656C>G, NM_001385455.1:c.*3511C>G, NM_001385382.1:c.*3511C>G, NR_169619.1:n.6280C>G, NR_169614.1:n.6276C>G, NM_001385383.1:c.*3511C>G, NM_001385381.1:c.*3518C>G, NR_169623.1:n.6250C>G, NM_001385350.1:c.*3511C>G, NR_169618.1:n.6228C>G, NM_001385362.1:c.*3683C>G, NR_169624.1:n.6184C>G, NR_169616.1:n.6168C>G, NM_001385461.1:c.*3511C>G, NM_001385450.1:c.*3511C>G, NM_001385357.1:c.*3511C>G, NM_001385340.1:c.*3511C>G, NM_001385457.1:c.*3511C>G, NM_001385458.1:c.*3511C>G, NM_001385454.1:c.*3511C>G

                                      19.

                                      rs1485378730 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:142028624 (GRCh38)
                                        4:142949777 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:142028623:C:T
                                        Gene:
                                        INPP4B (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.142028624C>T, NC_000004.11:g.142949777C>T, NM_003866.3:c.*158G>A, NM_003866.2:c.*158G>A, NM_001101669.3:c.*158G>A, NM_001101669.2:c.*158G>A, NM_001101669.1:c.*158G>A, NM_001385348.1:c.*330G>A, XM_047416359.1:c.*158G>A, XM_047416356.1:c.*158G>A, NM_001385344.1:c.*158G>A, NM_001385347.1:c.*330G>A, NM_001385339.1:c.*158G>A, NM_001385336.1:c.*158G>A, NM_001385338.1:c.*158G>A, NM_001385334.1:c.*158G>A, NM_001385343.1:c.*158G>A, NM_001385341.1:c.*158G>A, XM_047416357.1:c.*158G>A, NR_169615.1:n.3275G>A, NM_001385342.1:c.*158G>A, XM_047416362.1:c.*158G>A, XM_047416358.1:c.*158G>A, XM_047416360.1:c.*158G>A, XM_047416361.1:c.*158G>A, NM_001385379.1:c.*158G>A, NM_001385351.1:c.*158G>A, NR_169599.1:n.3042G>A, NR_169617.1:n.3035G>A, NM_001385452.1:c.*158G>A, NM_001385380.1:c.*303G>A, NM_001385455.1:c.*158G>A, NM_001385382.1:c.*158G>A, NR_169619.1:n.2927G>A, NR_169614.1:n.2923G>A, NM_001385383.1:c.*158G>A, NM_001385381.1:c.*165G>A, NR_169623.1:n.2897G>A, NM_001385350.1:c.*158G>A, NR_169618.1:n.2875G>A, NM_001385362.1:c.*330G>A, NR_169624.1:n.2831G>A, NR_169616.1:n.2815G>A, NM_001385461.1:c.*158G>A, NM_001385450.1:c.*158G>A, NM_001385357.1:c.*158G>A, NM_001385340.1:c.*158G>A, NM_001385457.1:c.*158G>A, NM_001385458.1:c.*158G>A, NM_001385454.1:c.*158G>A

                                        20.

                                        rs1485318052 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:142028369 (GRCh38)
                                          4:142949522 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:142028368:A:G
                                          Gene:
                                          INPP4B (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000004.12:g.142028369A>G, NC_000004.11:g.142949522A>G, NM_003866.3:c.*413T>C, NM_003866.2:c.*413T>C, NM_001101669.3:c.*413T>C, NM_001101669.2:c.*413T>C, NM_001101669.1:c.*413T>C, NM_001385348.1:c.*585T>C, XM_047416359.1:c.*413T>C, XM_047416356.1:c.*413T>C, NM_001385344.1:c.*413T>C, NM_001385347.1:c.*585T>C, NM_001385339.1:c.*413T>C, NM_001385336.1:c.*413T>C, NM_001385338.1:c.*413T>C, NM_001385334.1:c.*413T>C, NM_001385343.1:c.*413T>C, NM_001385341.1:c.*413T>C, XM_047416357.1:c.*413T>C, NR_169615.1:n.3530T>C, NM_001385342.1:c.*413T>C, XM_047416362.1:c.*413T>C, XM_047416358.1:c.*413T>C, XM_047416360.1:c.*413T>C, XM_047416361.1:c.*413T>C, NM_001385379.1:c.*413T>C, NM_001385351.1:c.*413T>C, NR_169599.1:n.3297T>C, NR_169617.1:n.3290T>C, NM_001385452.1:c.*413T>C, NM_001385380.1:c.*558T>C, NM_001385455.1:c.*413T>C, NM_001385382.1:c.*413T>C, NR_169619.1:n.3182T>C, NR_169614.1:n.3178T>C, NM_001385383.1:c.*413T>C, NM_001385381.1:c.*420T>C, NR_169623.1:n.3152T>C, NM_001385350.1:c.*413T>C, NR_169618.1:n.3130T>C, NM_001385362.1:c.*585T>C, NR_169624.1:n.3086T>C, NR_169616.1:n.3070T>C, NM_001385461.1:c.*413T>C, NM_001385450.1:c.*413T>C, NM_001385357.1:c.*413T>C, NM_001385340.1:c.*413T>C, NM_001385457.1:c.*413T>C, NM_001385458.1:c.*413T>C, NM_001385454.1:c.*413T>C

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