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Items: 1 to 20 of 1000

1.

rs1490730393 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:235809418 (GRCh38)
    1:235972718 (GRCh37)
    Canonical SPDI:
    NC_000001.11:235809417:T:C
    Gene:
    LYST (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.235809418T>C, NC_000001.10:g.235972718T>C, NG_007397.1:g.79223A>G, NM_000081.4:c.1400A>G, NM_000081.3:c.1400A>G, NM_001301365.1:c.1400A>G, XM_011544033.3:c.1400A>G, XM_011544033.2:c.1400A>G, XM_011544033.1:c.1400A>G, XM_011544037.3:c.1400A>G, XM_011544037.2:c.1400A>G, XM_011544037.1:c.1400A>G, XM_011544036.3:c.-1314A>G, XM_011544035.3:c.1400A>G, XM_011544035.2:c.1400A>G, XM_011544035.1:c.1400A>G, XM_011544039.3:c.1400A>G, XM_011544039.2:c.1400A>G, XM_011544039.1:c.1400A>G, XM_011544032.2:c.1400A>G, XM_011544032.1:c.1400A>G, XM_011544031.2:c.1400A>G, XM_011544031.1:c.1400A>G, XM_047443026.1:c.1400A>G, XM_047443040.1:c.1400A>G, XM_047443034.1:c.-1314A>G, XM_047443046.1:c.1400A>G, XM_047443038.1:c.1400A>G, XM_047443027.1:c.1400A>G, NM_001005736.1:c.1400A>G, XM_047443064.1:c.1400A>G, NP_000072.2:p.Glu467Gly, NP_001288294.1:p.Glu467Gly, XP_011542335.1:p.Glu467Gly, XP_011542339.1:p.Glu467Gly, XP_011542337.1:p.Glu467Gly, XP_011542341.1:p.Glu467Gly, XP_011542334.1:p.Glu467Gly, XP_011542333.1:p.Glu467Gly, XP_047298982.1:p.Glu467Gly, XP_047298996.1:p.Glu467Gly, XP_047299002.1:p.Glu467Gly, XP_047298994.1:p.Glu467Gly, XP_047298983.1:p.Glu467Gly, XP_047299020.1:p.Glu467Gly

    2.

    rs1490130771 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:235744114 (GRCh38)
      1:235907414 (GRCh37)
      Canonical SPDI:
      NC_000001.11:235744113:A:G
      Gene:
      LYST (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1489847856 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        1:235800373 (GRCh38)
        1:235963673 (GRCh37)
        Canonical SPDI:
        NC_000001.11:235800372:T:A,NC_000001.11:235800372:T:C
        Gene:
        LYST (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000047/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.235800373T>A, NC_000001.11:g.235800373T>C, NC_000001.10:g.235963673T>A, NC_000001.10:g.235963673T>C, NG_007397.1:g.88268A>T, NG_007397.1:g.88268A>G, NM_000081.4:c.3953A>T, NM_000081.4:c.3953A>G, NM_000081.3:c.3953A>T, NM_000081.3:c.3953A>G, NM_001301365.1:c.3953A>T, NM_001301365.1:c.3953A>G, XM_011544033.3:c.3953A>T, XM_011544033.3:c.3953A>G, XM_011544033.2:c.3953A>T, XM_011544033.2:c.3953A>G, XM_011544033.1:c.3953A>T, XM_011544033.1:c.3953A>G, XM_011544037.3:c.3953A>T, XM_011544037.3:c.3953A>G, XM_011544037.2:c.3953A>T, XM_011544037.2:c.3953A>G, XM_011544037.1:c.3953A>T, XM_011544037.1:c.3953A>G, XM_011544036.3:c.1616A>T, XM_011544036.3:c.1616A>G, XM_011544036.2:c.1616A>T, XM_011544036.2:c.1616A>G, XM_011544036.1:c.1616A>T, XM_011544036.1:c.1616A>G, XM_011544035.3:c.3953A>T, XM_011544035.3:c.3953A>G, XM_011544035.2:c.3953A>T, XM_011544035.2:c.3953A>G, XM_011544035.1:c.3953A>T, XM_011544035.1:c.3953A>G, XM_011544039.3:c.3953A>T, XM_011544039.3:c.3953A>G, XM_011544039.2:c.3953A>T, XM_011544039.2:c.3953A>G, XM_011544039.1:c.3953A>T, XM_011544039.1:c.3953A>G, XM_011544032.2:c.3953A>T, XM_011544032.2:c.3953A>G, XM_011544032.1:c.3953A>T, XM_011544032.1:c.3953A>G, XM_011544031.2:c.3953A>T, XM_011544031.2:c.3953A>G, XM_011544031.1:c.3953A>T, XM_011544031.1:c.3953A>G, XM_047443026.1:c.3953A>T, XM_047443026.1:c.3953A>G, XM_047443040.1:c.3953A>T, XM_047443040.1:c.3953A>G, XM_047443034.1:c.1616A>T, XM_047443034.1:c.1616A>G, XM_047443046.1:c.3953A>T, XM_047443046.1:c.3953A>G, XM_047443038.1:c.3953A>T, XM_047443038.1:c.3953A>G, XM_047443027.1:c.3953A>T, XM_047443027.1:c.3953A>G, NM_001005736.1:c.3953A>T, NM_001005736.1:c.3953A>G, XM_047443064.1:c.3953A>T, XM_047443064.1:c.3953A>G, NP_000072.2:p.Asn1318Ile, NP_000072.2:p.Asn1318Ser, NP_001288294.1:p.Asn1318Ile, NP_001288294.1:p.Asn1318Ser, XP_011542335.1:p.Asn1318Ile, XP_011542335.1:p.Asn1318Ser, XP_011542339.1:p.Asn1318Ile, XP_011542339.1:p.Asn1318Ser, XP_011542338.1:p.Asn539Ile, XP_011542338.1:p.Asn539Ser, XP_011542337.1:p.Asn1318Ile, XP_011542337.1:p.Asn1318Ser, XP_011542341.1:p.Asn1318Ile, XP_011542341.1:p.Asn1318Ser, XP_011542334.1:p.Asn1318Ile, XP_011542334.1:p.Asn1318Ser, XP_011542333.1:p.Asn1318Ile, XP_011542333.1:p.Asn1318Ser, XP_047298982.1:p.Asn1318Ile, XP_047298982.1:p.Asn1318Ser, XP_047298996.1:p.Asn1318Ile, XP_047298996.1:p.Asn1318Ser, XP_047298990.1:p.Asn539Ile, XP_047298990.1:p.Asn539Ser, XP_047299002.1:p.Asn1318Ile, XP_047299002.1:p.Asn1318Ser, XP_047298994.1:p.Asn1318Ile, XP_047298994.1:p.Asn1318Ser, XP_047298983.1:p.Asn1318Ile, XP_047298983.1:p.Asn1318Ser, XP_047299020.1:p.Asn1318Ile, XP_047299020.1:p.Asn1318Ser

        4.

        rs1489768077 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:235693463 (GRCh38)
          1:235856763 (GRCh37)
          Canonical SPDI:
          NC_000001.11:235693462:C:T
          Gene:
          LYST (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1489694304 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            1:235805949 (GRCh38)
            1:235969249 (GRCh37)
            Canonical SPDI:
            NC_000001.11:235805948:C:G,NC_000001.11:235805948:C:T
            Gene:
            LYST (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            G=0.000071/2 (TOMMO)
            HGVS:
            NC_000001.11:g.235805949C>G, NC_000001.11:g.235805949C>T, NC_000001.10:g.235969249C>G, NC_000001.10:g.235969249C>T, NG_007397.1:g.82692G>C, NG_007397.1:g.82692G>A, NM_000081.4:c.3187G>C, NM_000081.4:c.3187G>A, NM_000081.3:c.3187G>C, NM_000081.3:c.3187G>A, NM_001301365.1:c.3187G>C, NM_001301365.1:c.3187G>A, XM_011544033.3:c.3187G>C, XM_011544033.3:c.3187G>A, XM_011544033.2:c.3187G>C, XM_011544033.2:c.3187G>A, XM_011544033.1:c.3187G>C, XM_011544033.1:c.3187G>A, XM_011544037.3:c.3187G>C, XM_011544037.3:c.3187G>A, XM_011544037.2:c.3187G>C, XM_011544037.2:c.3187G>A, XM_011544037.1:c.3187G>C, XM_011544037.1:c.3187G>A, XM_011544036.3:c.850G>C, XM_011544036.3:c.850G>A, XM_011544036.2:c.850G>C, XM_011544036.2:c.850G>A, XM_011544036.1:c.850G>C, XM_011544036.1:c.850G>A, XM_011544035.3:c.3187G>C, XM_011544035.3:c.3187G>A, XM_011544035.2:c.3187G>C, XM_011544035.2:c.3187G>A, XM_011544035.1:c.3187G>C, XM_011544035.1:c.3187G>A, XM_011544039.3:c.3187G>C, XM_011544039.3:c.3187G>A, XM_011544039.2:c.3187G>C, XM_011544039.2:c.3187G>A, XM_011544039.1:c.3187G>C, XM_011544039.1:c.3187G>A, XM_011544032.2:c.3187G>C, XM_011544032.2:c.3187G>A, XM_011544032.1:c.3187G>C, XM_011544032.1:c.3187G>A, XM_011544031.2:c.3187G>C, XM_011544031.2:c.3187G>A, XM_011544031.1:c.3187G>C, XM_011544031.1:c.3187G>A, XM_047443026.1:c.3187G>C, XM_047443026.1:c.3187G>A, XM_047443040.1:c.3187G>C, XM_047443040.1:c.3187G>A, XM_047443034.1:c.850G>C, XM_047443034.1:c.850G>A, XM_047443046.1:c.3187G>C, XM_047443046.1:c.3187G>A, XM_047443038.1:c.3187G>C, XM_047443038.1:c.3187G>A, XM_047443027.1:c.3187G>C, XM_047443027.1:c.3187G>A, NM_001005736.1:c.3187G>C, NM_001005736.1:c.3187G>A, XM_047443064.1:c.3187G>C, XM_047443064.1:c.3187G>A, NP_000072.2:p.Gly1063Arg, NP_000072.2:p.Gly1063Ser, NP_001288294.1:p.Gly1063Arg, NP_001288294.1:p.Gly1063Ser, XP_011542335.1:p.Gly1063Arg, XP_011542335.1:p.Gly1063Ser, XP_011542339.1:p.Gly1063Arg, XP_011542339.1:p.Gly1063Ser, XP_011542338.1:p.Gly284Arg, XP_011542338.1:p.Gly284Ser, XP_011542337.1:p.Gly1063Arg, XP_011542337.1:p.Gly1063Ser, XP_011542341.1:p.Gly1063Arg, XP_011542341.1:p.Gly1063Ser, XP_011542334.1:p.Gly1063Arg, XP_011542334.1:p.Gly1063Ser, XP_011542333.1:p.Gly1063Arg, XP_011542333.1:p.Gly1063Ser, XP_047298982.1:p.Gly1063Arg, XP_047298982.1:p.Gly1063Ser, XP_047298996.1:p.Gly1063Arg, XP_047298996.1:p.Gly1063Ser, XP_047298990.1:p.Gly284Arg, XP_047298990.1:p.Gly284Ser, XP_047299002.1:p.Gly1063Arg, XP_047299002.1:p.Gly1063Ser, XP_047298994.1:p.Gly1063Arg, XP_047298994.1:p.Gly1063Ser, XP_047298983.1:p.Gly1063Arg, XP_047298983.1:p.Gly1063Ser, XP_047299020.1:p.Gly1063Arg, XP_047299020.1:p.Gly1063Ser

            6.

            rs1489278387 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              1:235806692 (GRCh38)
              1:235969992 (GRCh37)
              Canonical SPDI:
              NC_000001.11:235806691:T:A,NC_000001.11:235806691:T:C
              Gene:
              LYST (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:
              NC_000001.11:g.235806692T>A, NC_000001.11:g.235806692T>C, NC_000001.10:g.235969992T>A, NC_000001.10:g.235969992T>C, NG_007397.1:g.81949A>T, NG_007397.1:g.81949A>G, NM_000081.4:c.2444A>T, NM_000081.4:c.2444A>G, NM_000081.3:c.2444A>T, NM_000081.3:c.2444A>G, NM_001301365.1:c.2444A>T, NM_001301365.1:c.2444A>G, XM_011544033.3:c.2444A>T, XM_011544033.3:c.2444A>G, XM_011544033.2:c.2444A>T, XM_011544033.2:c.2444A>G, XM_011544033.1:c.2444A>T, XM_011544033.1:c.2444A>G, XM_011544037.3:c.2444A>T, XM_011544037.3:c.2444A>G, XM_011544037.2:c.2444A>T, XM_011544037.2:c.2444A>G, XM_011544037.1:c.2444A>T, XM_011544037.1:c.2444A>G, XM_011544036.3:c.107A>T, XM_011544036.3:c.107A>G, XM_011544036.2:c.107A>T, XM_011544036.2:c.107A>G, XM_011544036.1:c.107A>T, XM_011544036.1:c.107A>G, XM_011544035.3:c.2444A>T, XM_011544035.3:c.2444A>G, XM_011544035.2:c.2444A>T, XM_011544035.2:c.2444A>G, XM_011544035.1:c.2444A>T, XM_011544035.1:c.2444A>G, XM_011544039.3:c.2444A>T, XM_011544039.3:c.2444A>G, XM_011544039.2:c.2444A>T, XM_011544039.2:c.2444A>G, XM_011544039.1:c.2444A>T, XM_011544039.1:c.2444A>G, XM_011544032.2:c.2444A>T, XM_011544032.2:c.2444A>G, XM_011544032.1:c.2444A>T, XM_011544032.1:c.2444A>G, XM_011544031.2:c.2444A>T, XM_011544031.2:c.2444A>G, XM_011544031.1:c.2444A>T, XM_011544031.1:c.2444A>G, XM_047443026.1:c.2444A>T, XM_047443026.1:c.2444A>G, XM_047443040.1:c.2444A>T, XM_047443040.1:c.2444A>G, XM_047443034.1:c.107A>T, XM_047443034.1:c.107A>G, XM_047443046.1:c.2444A>T, XM_047443046.1:c.2444A>G, XM_047443038.1:c.2444A>T, XM_047443038.1:c.2444A>G, XM_047443027.1:c.2444A>T, XM_047443027.1:c.2444A>G, NM_001005736.1:c.2444A>T, NM_001005736.1:c.2444A>G, XM_047443064.1:c.2444A>T, XM_047443064.1:c.2444A>G, NP_000072.2:p.His815Leu, NP_000072.2:p.His815Arg, NP_001288294.1:p.His815Leu, NP_001288294.1:p.His815Arg, XP_011542335.1:p.His815Leu, XP_011542335.1:p.His815Arg, XP_011542339.1:p.His815Leu, XP_011542339.1:p.His815Arg, XP_011542338.1:p.His36Leu, XP_011542338.1:p.His36Arg, XP_011542337.1:p.His815Leu, XP_011542337.1:p.His815Arg, XP_011542341.1:p.His815Leu, XP_011542341.1:p.His815Arg, XP_011542334.1:p.His815Leu, XP_011542334.1:p.His815Arg, XP_011542333.1:p.His815Leu, XP_011542333.1:p.His815Arg, XP_047298982.1:p.His815Leu, XP_047298982.1:p.His815Arg, XP_047298996.1:p.His815Leu, XP_047298996.1:p.His815Arg, XP_047298990.1:p.His36Leu, XP_047298990.1:p.His36Arg, XP_047299002.1:p.His815Leu, XP_047299002.1:p.His815Arg, XP_047298994.1:p.His815Leu, XP_047298994.1:p.His815Arg, XP_047298983.1:p.His815Leu, XP_047298983.1:p.His815Arg, XP_047299020.1:p.His815Leu, XP_047299020.1:p.His815Arg

              7.

              rs1489272978 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:235787364 (GRCh38)
                1:235950664 (GRCh37)
                Canonical SPDI:
                NC_000001.11:235787363:C:T
                Gene:
                LYST (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.235787364C>T, NC_000001.10:g.235950664C>T, NG_007397.1:g.101277G>A, NM_000081.4:c.4698G>A, NM_000081.3:c.4698G>A, NM_001301365.1:c.4698G>A, XM_011544033.3:c.4698G>A, XM_011544033.2:c.4698G>A, XM_011544033.1:c.4698G>A, XM_011544037.3:c.4698G>A, XM_011544037.2:c.4698G>A, XM_011544037.1:c.4698G>A, XM_011544036.3:c.2361G>A, XM_011544036.2:c.2361G>A, XM_011544036.1:c.2361G>A, XM_011544035.3:c.4698G>A, XM_011544035.2:c.4698G>A, XM_011544035.1:c.4698G>A, XM_011544039.3:c.4698G>A, XM_011544039.2:c.4698G>A, XM_011544039.1:c.4698G>A, XM_011544032.2:c.4698G>A, XM_011544032.1:c.4698G>A, XM_011544031.2:c.4698G>A, XM_011544031.1:c.4698G>A, XM_047443026.1:c.4698G>A, XM_047443040.1:c.4698G>A, XM_047443034.1:c.2361G>A, XM_047443046.1:c.4698G>A, XM_047443038.1:c.4698G>A, XM_047443027.1:c.4698G>A, NM_001005736.1:c.4698G>A, XM_047443064.1:c.4698G>A, NP_000072.2:p.Met1566Ile, NP_001288294.1:p.Met1566Ile, XP_011542335.1:p.Met1566Ile, XP_011542339.1:p.Met1566Ile, XP_011542338.1:p.Met787Ile, XP_011542337.1:p.Met1566Ile, XP_011542341.1:p.Met1566Ile, XP_011542334.1:p.Met1566Ile, XP_011542333.1:p.Met1566Ile, XP_047298982.1:p.Met1566Ile, XP_047298996.1:p.Met1566Ile, XP_047298990.1:p.Met787Ile, XP_047299002.1:p.Met1566Ile, XP_047298994.1:p.Met1566Ile, XP_047298983.1:p.Met1566Ile, XP_047299020.1:p.Met1566Ile

                8.

                rs1488901254 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:235809520 (GRCh38)
                  1:235972820 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:235809519:A:G
                  Gene:
                  LYST (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.235809520A>G, NC_000001.10:g.235972820A>G, NG_007397.1:g.79121T>C, NM_000081.4:c.1298T>C, NM_000081.3:c.1298T>C, NM_001301365.1:c.1298T>C, XM_011544033.3:c.1298T>C, XM_011544033.2:c.1298T>C, XM_011544033.1:c.1298T>C, XM_011544037.3:c.1298T>C, XM_011544037.2:c.1298T>C, XM_011544037.1:c.1298T>C, XM_011544036.3:c.-1416T>C, XM_011544035.3:c.1298T>C, XM_011544035.2:c.1298T>C, XM_011544035.1:c.1298T>C, XM_011544039.3:c.1298T>C, XM_011544039.2:c.1298T>C, XM_011544039.1:c.1298T>C, XM_011544032.2:c.1298T>C, XM_011544032.1:c.1298T>C, XM_011544031.2:c.1298T>C, XM_011544031.1:c.1298T>C, XM_047443026.1:c.1298T>C, XM_047443040.1:c.1298T>C, XM_047443034.1:c.-1416T>C, XM_047443046.1:c.1298T>C, XM_047443038.1:c.1298T>C, XM_047443027.1:c.1298T>C, NM_001005736.1:c.1298T>C, XM_047443064.1:c.1298T>C, NP_000072.2:p.Val433Ala, NP_001288294.1:p.Val433Ala, XP_011542335.1:p.Val433Ala, XP_011542339.1:p.Val433Ala, XP_011542337.1:p.Val433Ala, XP_011542341.1:p.Val433Ala, XP_011542334.1:p.Val433Ala, XP_011542333.1:p.Val433Ala, XP_047298982.1:p.Val433Ala, XP_047298996.1:p.Val433Ala, XP_047299002.1:p.Val433Ala, XP_047298994.1:p.Val433Ala, XP_047298983.1:p.Val433Ala, XP_047299020.1:p.Val433Ala

                  9.

                  rs1488284681 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:235777084 (GRCh38)
                    1:235940384 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:235777083:T:C
                    Gene:
                    LYST (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000021/3 (GnomAD)
                    C=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000001.11:g.235777084T>C, NC_000001.10:g.235940384T>C, NG_007397.1:g.111557A>G, NM_000081.4:c.5439A>G, NM_000081.3:c.5439A>G, NM_001301365.1:c.5439A>G, XM_011544033.3:c.5439A>G, XM_011544033.2:c.5439A>G, XM_011544033.1:c.5439A>G, XM_011544037.3:c.5439A>G, XM_011544037.2:c.5439A>G, XM_011544037.1:c.5439A>G, XM_011544036.3:c.3102A>G, XM_011544036.2:c.3102A>G, XM_011544036.1:c.3102A>G, XM_011544035.3:c.5439A>G, XM_011544035.2:c.5439A>G, XM_011544035.1:c.5439A>G, XM_011544039.3:c.5439A>G, XM_011544039.2:c.5439A>G, XM_011544039.1:c.5439A>G, XM_011544032.2:c.5439A>G, XM_011544032.1:c.5439A>G, XM_011544031.2:c.5439A>G, XM_011544031.1:c.5439A>G, XM_047443026.1:c.5439A>G, XM_047443040.1:c.5439A>G, XM_047443034.1:c.3102A>G, XM_047443046.1:c.5439A>G, XM_047443038.1:c.5439A>G, XM_047443027.1:c.5439A>G, NM_001005736.1:c.5439A>G, XM_047443064.1:c.5439A>G, NP_000072.2:p.Ile1813Met, NP_001288294.1:p.Ile1813Met, XP_011542335.1:p.Ile1813Met, XP_011542339.1:p.Ile1813Met, XP_011542338.1:p.Ile1034Met, XP_011542337.1:p.Ile1813Met, XP_011542341.1:p.Ile1813Met, XP_011542334.1:p.Ile1813Met, XP_011542333.1:p.Ile1813Met, XP_047298982.1:p.Ile1813Met, XP_047298996.1:p.Ile1813Met, XP_047298990.1:p.Ile1034Met, XP_047299002.1:p.Ile1813Met, XP_047298994.1:p.Ile1813Met, XP_047298983.1:p.Ile1813Met, XP_047299020.1:p.Ile1813Met

                    10.

                    rs1487976185 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:235751257 (GRCh38)
                      1:235914557 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:235751256:G:A
                      Gene:
                      LYST (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.235751257G>A, NC_000001.10:g.235914557G>A, NG_007397.1:g.137384C>T, NM_000081.4:c.7733C>T, NM_000081.3:c.7733C>T, NM_001301365.1:c.7733C>T, XM_011544033.3:c.7733C>T, XM_011544033.2:c.7733C>T, XM_011544033.1:c.7733C>T, XM_011544037.3:c.7733C>T, XM_011544037.2:c.7733C>T, XM_011544037.1:c.7733C>T, XM_011544036.3:c.5396C>T, XM_011544036.2:c.5396C>T, XM_011544036.1:c.5396C>T, XM_011544035.3:c.7733C>T, XM_011544035.2:c.7733C>T, XM_011544035.1:c.7733C>T, XM_011544039.3:c.*81C>T, XM_011544039.2:c.*81C>T, XM_011544039.1:c.*81C>T, XM_011544032.2:c.7733C>T, XM_011544032.1:c.7733C>T, XM_011544031.2:c.7733C>T, XM_011544031.1:c.7733C>T, XM_047443026.1:c.7733C>T, XM_047443040.1:c.7733C>T, XM_047443034.1:c.5396C>T, XM_047443046.1:c.7733C>T, XM_047443038.1:c.7733C>T, XM_047443027.1:c.7733C>T, NP_000072.2:p.Pro2578Leu, NP_001288294.1:p.Pro2578Leu, XP_011542335.1:p.Pro2578Leu, XP_011542339.1:p.Pro2578Leu, XP_011542338.1:p.Pro1799Leu, XP_011542337.1:p.Pro2578Leu, XP_011542334.1:p.Pro2578Leu, XP_011542333.1:p.Pro2578Leu, XP_047298982.1:p.Pro2578Leu, XP_047298996.1:p.Pro2578Leu, XP_047298990.1:p.Pro1799Leu, XP_047299002.1:p.Pro2578Leu, XP_047298994.1:p.Pro2578Leu, XP_047298983.1:p.Pro2578Leu

                      11.

                      rs1487802198 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:235806386 (GRCh38)
                        1:235969686 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:235806385:C:T
                        Gene:
                        LYST (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.235806386C>T, NC_000001.10:g.235969686C>T, NG_007397.1:g.82255G>A, NM_000081.4:c.2750G>A, NM_000081.3:c.2750G>A, NM_001301365.1:c.2750G>A, XM_011544033.3:c.2750G>A, XM_011544033.2:c.2750G>A, XM_011544033.1:c.2750G>A, XM_011544037.3:c.2750G>A, XM_011544037.2:c.2750G>A, XM_011544037.1:c.2750G>A, XM_011544036.3:c.413G>A, XM_011544036.2:c.413G>A, XM_011544036.1:c.413G>A, XM_011544035.3:c.2750G>A, XM_011544035.2:c.2750G>A, XM_011544035.1:c.2750G>A, XM_011544039.3:c.2750G>A, XM_011544039.2:c.2750G>A, XM_011544039.1:c.2750G>A, XM_011544032.2:c.2750G>A, XM_011544032.1:c.2750G>A, XM_011544031.2:c.2750G>A, XM_011544031.1:c.2750G>A, XM_047443026.1:c.2750G>A, XM_047443040.1:c.2750G>A, XM_047443034.1:c.413G>A, XM_047443046.1:c.2750G>A, XM_047443038.1:c.2750G>A, XM_047443027.1:c.2750G>A, NM_001005736.1:c.2750G>A, XM_047443064.1:c.2750G>A, NP_000072.2:p.Arg917Lys, NP_001288294.1:p.Arg917Lys, XP_011542335.1:p.Arg917Lys, XP_011542339.1:p.Arg917Lys, XP_011542338.1:p.Arg138Lys, XP_011542337.1:p.Arg917Lys, XP_011542341.1:p.Arg917Lys, XP_011542334.1:p.Arg917Lys, XP_011542333.1:p.Arg917Lys, XP_047298982.1:p.Arg917Lys, XP_047298996.1:p.Arg917Lys, XP_047298990.1:p.Arg138Lys, XP_047299002.1:p.Arg917Lys, XP_047298994.1:p.Arg917Lys, XP_047298983.1:p.Arg917Lys, XP_047299020.1:p.Arg917Lys

                        12.

                        rs1487605651 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:235806013 (GRCh38)
                          1:235969313 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:235806012:C:T
                          Gene:
                          LYST (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.235806013C>T, NC_000001.10:g.235969313C>T, NG_007397.1:g.82628G>A, NM_000081.4:c.3123G>A, NM_000081.3:c.3123G>A, NM_001301365.1:c.3123G>A, XM_011544033.3:c.3123G>A, XM_011544033.2:c.3123G>A, XM_011544033.1:c.3123G>A, XM_011544037.3:c.3123G>A, XM_011544037.2:c.3123G>A, XM_011544037.1:c.3123G>A, XM_011544036.3:c.786G>A, XM_011544036.2:c.786G>A, XM_011544036.1:c.786G>A, XM_011544035.3:c.3123G>A, XM_011544035.2:c.3123G>A, XM_011544035.1:c.3123G>A, XM_011544039.3:c.3123G>A, XM_011544039.2:c.3123G>A, XM_011544039.1:c.3123G>A, XM_011544032.2:c.3123G>A, XM_011544032.1:c.3123G>A, XM_011544031.2:c.3123G>A, XM_011544031.1:c.3123G>A, XM_047443026.1:c.3123G>A, XM_047443040.1:c.3123G>A, XM_047443034.1:c.786G>A, XM_047443046.1:c.3123G>A, XM_047443038.1:c.3123G>A, XM_047443027.1:c.3123G>A, NM_001005736.1:c.3123G>A, XM_047443064.1:c.3123G>A

                          13.

                          rs1486730949 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:235775083 (GRCh38)
                            1:235938383 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:235775082:C:A,NC_000001.11:235775082:C:T
                            Gene:
                            LYST (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000108/2 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000546/1 (Korea1K)
                            HGVS:
                            NC_000001.11:g.235775083C>A, NC_000001.11:g.235775083C>T, NC_000001.10:g.235938383C>A, NC_000001.10:g.235938383C>T, NG_007397.1:g.113558G>T, NG_007397.1:g.113558G>A, NM_000081.4:c.5464G>T, NM_000081.4:c.5464G>A, NM_000081.3:c.5464G>T, NM_000081.3:c.5464G>A, NM_001301365.1:c.5464G>T, NM_001301365.1:c.5464G>A, XM_011544033.3:c.5464G>T, XM_011544033.3:c.5464G>A, XM_011544033.2:c.5464G>T, XM_011544033.2:c.5464G>A, XM_011544033.1:c.5464G>T, XM_011544033.1:c.5464G>A, XM_011544037.3:c.5464G>T, XM_011544037.3:c.5464G>A, XM_011544037.2:c.5464G>T, XM_011544037.2:c.5464G>A, XM_011544037.1:c.5464G>T, XM_011544037.1:c.5464G>A, XM_011544036.3:c.3127G>T, XM_011544036.3:c.3127G>A, XM_011544036.2:c.3127G>T, XM_011544036.2:c.3127G>A, XM_011544036.1:c.3127G>T, XM_011544036.1:c.3127G>A, XM_011544035.3:c.5464G>T, XM_011544035.3:c.5464G>A, XM_011544035.2:c.5464G>T, XM_011544035.2:c.5464G>A, XM_011544035.1:c.5464G>T, XM_011544035.1:c.5464G>A, XM_011544039.3:c.5464G>T, XM_011544039.3:c.5464G>A, XM_011544039.2:c.5464G>T, XM_011544039.2:c.5464G>A, XM_011544039.1:c.5464G>T, XM_011544039.1:c.5464G>A, XM_011544032.2:c.5464G>T, XM_011544032.2:c.5464G>A, XM_011544032.1:c.5464G>T, XM_011544032.1:c.5464G>A, XM_011544031.2:c.5464G>T, XM_011544031.2:c.5464G>A, XM_011544031.1:c.5464G>T, XM_011544031.1:c.5464G>A, XM_047443026.1:c.5464G>T, XM_047443026.1:c.5464G>A, XM_047443040.1:c.5464G>T, XM_047443040.1:c.5464G>A, XM_047443034.1:c.3127G>T, XM_047443034.1:c.3127G>A, XM_047443046.1:c.5464G>T, XM_047443046.1:c.5464G>A, XM_047443038.1:c.5464G>T, XM_047443038.1:c.5464G>A, XM_047443027.1:c.5464G>T, XM_047443027.1:c.5464G>A, NM_001005736.1:c.5464G>T, NM_001005736.1:c.5464G>A, XM_047443064.1:c.5464G>T, XM_047443064.1:c.5464G>A, NP_000072.2:p.Val1822Phe, NP_000072.2:p.Val1822Ile, NP_001288294.1:p.Val1822Phe, NP_001288294.1:p.Val1822Ile, XP_011542335.1:p.Val1822Phe, XP_011542335.1:p.Val1822Ile, XP_011542339.1:p.Val1822Phe, XP_011542339.1:p.Val1822Ile, XP_011542338.1:p.Val1043Phe, XP_011542338.1:p.Val1043Ile, XP_011542337.1:p.Val1822Phe, XP_011542337.1:p.Val1822Ile, XP_011542341.1:p.Val1822Phe, XP_011542341.1:p.Val1822Ile, XP_011542334.1:p.Val1822Phe, XP_011542334.1:p.Val1822Ile, XP_011542333.1:p.Val1822Phe, XP_011542333.1:p.Val1822Ile, XP_047298982.1:p.Val1822Phe, XP_047298982.1:p.Val1822Ile, XP_047298996.1:p.Val1822Phe, XP_047298996.1:p.Val1822Ile, XP_047298990.1:p.Val1043Phe, XP_047298990.1:p.Val1043Ile, XP_047299002.1:p.Val1822Phe, XP_047299002.1:p.Val1822Ile, XP_047298994.1:p.Val1822Phe, XP_047298994.1:p.Val1822Ile, XP_047298983.1:p.Val1822Phe, XP_047298983.1:p.Val1822Ile, XP_047299020.1:p.Val1822Phe, XP_047299020.1:p.Val1822Ile

                            14.

                            rs1486191601 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              1:235709229 (GRCh38)
                              1:235872529 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:235709228:A:C,NC_000001.11:235709228:A:G
                              Gene:
                              LYST (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              G=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000001.11:g.235709229A>C, NC_000001.11:g.235709229A>G, NC_000001.10:g.235872529A>C, NC_000001.10:g.235872529A>G, NG_007397.1:g.179412T>G, NG_007397.1:g.179412T>C, NM_000081.4:c.10005T>G, NM_000081.4:c.10005T>C, NM_000081.3:c.10005T>G, NM_000081.3:c.10005T>C, NM_001301365.1:c.10005T>G, NM_001301365.1:c.10005T>C, NG_082387.1:g.1086A>C, NG_082387.1:g.1086A>G, XM_011544033.3:c.10167T>G, XM_011544033.3:c.10167T>C, XM_011544033.2:c.10167T>G, XM_011544033.2:c.10167T>C, XM_011544033.1:c.10167T>G, XM_011544033.1:c.10167T>C, XM_011544036.3:c.7830T>G, XM_011544036.3:c.7830T>C, XM_011544036.2:c.7830T>G, XM_011544036.2:c.7830T>C, XM_011544036.1:c.7830T>G, XM_011544036.1:c.7830T>C, XM_011544032.2:c.10167T>G, XM_011544032.2:c.10167T>C, XM_011544032.1:c.10167T>G, XM_011544032.1:c.10167T>C, XM_011544031.2:c.10167T>G, XM_011544031.2:c.10167T>C, XM_011544031.1:c.10167T>G, XM_011544031.1:c.10167T>C, XM_047443026.1:c.10167T>G, XM_047443026.1:c.10167T>C, XM_047443034.1:c.7668T>G, XM_047443034.1:c.7668T>C

                              15.

                              rs1486181314 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:235809870 (GRCh38)
                                1:235973170 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:235809869:G:A,NC_000001.11:235809869:G:T
                                Gene:
                                LYST (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                A=0.000011/3 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000001.11:g.235809870G>A, NC_000001.11:g.235809870G>T, NC_000001.10:g.235973170G>A, NC_000001.10:g.235973170G>T, NG_007397.1:g.78771C>T, NG_007397.1:g.78771C>A, NM_000081.4:c.948C>T, NM_000081.4:c.948C>A, NM_000081.3:c.948C>T, NM_000081.3:c.948C>A, NM_001301365.1:c.948C>T, NM_001301365.1:c.948C>A, XM_011544033.3:c.948C>T, XM_011544033.3:c.948C>A, XM_011544033.2:c.948C>T, XM_011544033.2:c.948C>A, XM_011544033.1:c.948C>T, XM_011544033.1:c.948C>A, XM_011544037.3:c.948C>T, XM_011544037.3:c.948C>A, XM_011544037.2:c.948C>T, XM_011544037.2:c.948C>A, XM_011544037.1:c.948C>T, XM_011544037.1:c.948C>A, XM_011544036.3:c.-1766C>T, XM_011544036.3:c.-1766C>A, XM_011544035.3:c.948C>T, XM_011544035.3:c.948C>A, XM_011544035.2:c.948C>T, XM_011544035.2:c.948C>A, XM_011544035.1:c.948C>T, XM_011544035.1:c.948C>A, XM_011544039.3:c.948C>T, XM_011544039.3:c.948C>A, XM_011544039.2:c.948C>T, XM_011544039.2:c.948C>A, XM_011544039.1:c.948C>T, XM_011544039.1:c.948C>A, XM_011544032.2:c.948C>T, XM_011544032.2:c.948C>A, XM_011544032.1:c.948C>T, XM_011544032.1:c.948C>A, XM_011544031.2:c.948C>T, XM_011544031.2:c.948C>A, XM_011544031.1:c.948C>T, XM_011544031.1:c.948C>A, XM_047443026.1:c.948C>T, XM_047443026.1:c.948C>A, XM_047443040.1:c.948C>T, XM_047443040.1:c.948C>A, XM_047443034.1:c.-1766C>T, XM_047443034.1:c.-1766C>A, XM_047443046.1:c.948C>T, XM_047443046.1:c.948C>A, XM_047443038.1:c.948C>T, XM_047443038.1:c.948C>A, XM_047443027.1:c.948C>T, XM_047443027.1:c.948C>A, NM_001005736.1:c.948C>T, NM_001005736.1:c.948C>A, XM_047443064.1:c.948C>T, XM_047443064.1:c.948C>A

                                16.

                                rs1486029757 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  1:235809538 (GRCh38)
                                  1:235972838 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:235809537:C:A,NC_000001.11:235809537:C:T
                                  Gene:
                                  LYST (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.00003/8 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.235809538C>A, NC_000001.11:g.235809538C>T, NC_000001.10:g.235972838C>A, NC_000001.10:g.235972838C>T, NG_007397.1:g.79103G>T, NG_007397.1:g.79103G>A, NM_000081.4:c.1280G>T, NM_000081.4:c.1280G>A, NM_000081.3:c.1280G>T, NM_000081.3:c.1280G>A, NM_001301365.1:c.1280G>T, NM_001301365.1:c.1280G>A, XM_011544033.3:c.1280G>T, XM_011544033.3:c.1280G>A, XM_011544033.2:c.1280G>T, XM_011544033.2:c.1280G>A, XM_011544033.1:c.1280G>T, XM_011544033.1:c.1280G>A, XM_011544037.3:c.1280G>T, XM_011544037.3:c.1280G>A, XM_011544037.2:c.1280G>T, XM_011544037.2:c.1280G>A, XM_011544037.1:c.1280G>T, XM_011544037.1:c.1280G>A, XM_011544036.3:c.-1434G>T, XM_011544036.3:c.-1434G>A, XM_011544035.3:c.1280G>T, XM_011544035.3:c.1280G>A, XM_011544035.2:c.1280G>T, XM_011544035.2:c.1280G>A, XM_011544035.1:c.1280G>T, XM_011544035.1:c.1280G>A, XM_011544039.3:c.1280G>T, XM_011544039.3:c.1280G>A, XM_011544039.2:c.1280G>T, XM_011544039.2:c.1280G>A, XM_011544039.1:c.1280G>T, XM_011544039.1:c.1280G>A, XM_011544032.2:c.1280G>T, XM_011544032.2:c.1280G>A, XM_011544032.1:c.1280G>T, XM_011544032.1:c.1280G>A, XM_011544031.2:c.1280G>T, XM_011544031.2:c.1280G>A, XM_011544031.1:c.1280G>T, XM_011544031.1:c.1280G>A, XM_047443026.1:c.1280G>T, XM_047443026.1:c.1280G>A, XM_047443040.1:c.1280G>T, XM_047443040.1:c.1280G>A, XM_047443034.1:c.-1434G>T, XM_047443034.1:c.-1434G>A, XM_047443046.1:c.1280G>T, XM_047443046.1:c.1280G>A, XM_047443038.1:c.1280G>T, XM_047443038.1:c.1280G>A, XM_047443027.1:c.1280G>T, XM_047443027.1:c.1280G>A, NM_001005736.1:c.1280G>T, NM_001005736.1:c.1280G>A, XM_047443064.1:c.1280G>T, XM_047443064.1:c.1280G>A, NP_000072.2:p.Ser427Ile, NP_000072.2:p.Ser427Asn, NP_001288294.1:p.Ser427Ile, NP_001288294.1:p.Ser427Asn, XP_011542335.1:p.Ser427Ile, XP_011542335.1:p.Ser427Asn, XP_011542339.1:p.Ser427Ile, XP_011542339.1:p.Ser427Asn, XP_011542337.1:p.Ser427Ile, XP_011542337.1:p.Ser427Asn, XP_011542341.1:p.Ser427Ile, XP_011542341.1:p.Ser427Asn, XP_011542334.1:p.Ser427Ile, XP_011542334.1:p.Ser427Asn, XP_011542333.1:p.Ser427Ile, XP_011542333.1:p.Ser427Asn, XP_047298982.1:p.Ser427Ile, XP_047298982.1:p.Ser427Asn, XP_047298996.1:p.Ser427Ile, XP_047298996.1:p.Ser427Asn, XP_047299002.1:p.Ser427Ile, XP_047299002.1:p.Ser427Asn, XP_047298994.1:p.Ser427Ile, XP_047298994.1:p.Ser427Asn, XP_047298983.1:p.Ser427Ile, XP_047298983.1:p.Ser427Asn, XP_047299020.1:p.Ser427Ile, XP_047299020.1:p.Ser427Asn

                                  17.

                                  rs1485880526 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    1:235791720 (GRCh38)
                                    1:235955020 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:235791719:C:G,NC_000001.11:235791719:C:T
                                    Gene:
                                    LYST (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.235791720C>G, NC_000001.11:g.235791720C>T, NC_000001.10:g.235955020C>G, NC_000001.10:g.235955020C>T, NG_007397.1:g.96921G>C, NG_007397.1:g.96921G>A, NM_000081.4:c.4522G>C, NM_000081.4:c.4522G>A, NM_000081.3:c.4522G>C, NM_000081.3:c.4522G>A, NM_001301365.1:c.4522G>C, NM_001301365.1:c.4522G>A, XM_011544033.3:c.4522G>C, XM_011544033.3:c.4522G>A, XM_011544033.2:c.4522G>C, XM_011544033.2:c.4522G>A, XM_011544033.1:c.4522G>C, XM_011544033.1:c.4522G>A, XM_011544037.3:c.4522G>C, XM_011544037.3:c.4522G>A, XM_011544037.2:c.4522G>C, XM_011544037.2:c.4522G>A, XM_011544037.1:c.4522G>C, XM_011544037.1:c.4522G>A, XM_011544036.3:c.2185G>C, XM_011544036.3:c.2185G>A, XM_011544036.2:c.2185G>C, XM_011544036.2:c.2185G>A, XM_011544036.1:c.2185G>C, XM_011544036.1:c.2185G>A, XM_011544035.3:c.4522G>C, XM_011544035.3:c.4522G>A, XM_011544035.2:c.4522G>C, XM_011544035.2:c.4522G>A, XM_011544035.1:c.4522G>C, XM_011544035.1:c.4522G>A, XM_011544039.3:c.4522G>C, XM_011544039.3:c.4522G>A, XM_011544039.2:c.4522G>C, XM_011544039.2:c.4522G>A, XM_011544039.1:c.4522G>C, XM_011544039.1:c.4522G>A, XM_011544032.2:c.4522G>C, XM_011544032.2:c.4522G>A, XM_011544032.1:c.4522G>C, XM_011544032.1:c.4522G>A, XM_011544031.2:c.4522G>C, XM_011544031.2:c.4522G>A, XM_011544031.1:c.4522G>C, XM_011544031.1:c.4522G>A, XM_047443026.1:c.4522G>C, XM_047443026.1:c.4522G>A, XM_047443040.1:c.4522G>C, XM_047443040.1:c.4522G>A, XM_047443034.1:c.2185G>C, XM_047443034.1:c.2185G>A, XM_047443046.1:c.4522G>C, XM_047443046.1:c.4522G>A, XM_047443038.1:c.4522G>C, XM_047443038.1:c.4522G>A, XM_047443027.1:c.4522G>C, XM_047443027.1:c.4522G>A, NM_001005736.1:c.4522G>C, NM_001005736.1:c.4522G>A, XM_047443064.1:c.4522G>C, XM_047443064.1:c.4522G>A, NP_000072.2:p.Asp1508His, NP_000072.2:p.Asp1508Asn, NP_001288294.1:p.Asp1508His, NP_001288294.1:p.Asp1508Asn, XP_011542335.1:p.Asp1508His, XP_011542335.1:p.Asp1508Asn, XP_011542339.1:p.Asp1508His, XP_011542339.1:p.Asp1508Asn, XP_011542338.1:p.Asp729His, XP_011542338.1:p.Asp729Asn, XP_011542337.1:p.Asp1508His, XP_011542337.1:p.Asp1508Asn, XP_011542341.1:p.Asp1508His, XP_011542341.1:p.Asp1508Asn, XP_011542334.1:p.Asp1508His, XP_011542334.1:p.Asp1508Asn, XP_011542333.1:p.Asp1508His, XP_011542333.1:p.Asp1508Asn, XP_047298982.1:p.Asp1508His, XP_047298982.1:p.Asp1508Asn, XP_047298996.1:p.Asp1508His, XP_047298996.1:p.Asp1508Asn, XP_047298990.1:p.Asp729His, XP_047298990.1:p.Asp729Asn, XP_047299002.1:p.Asp1508His, XP_047299002.1:p.Asp1508Asn, XP_047298994.1:p.Asp1508His, XP_047298994.1:p.Asp1508Asn, XP_047298983.1:p.Asp1508His, XP_047298983.1:p.Asp1508Asn, XP_047299020.1:p.Asp1508His, XP_047299020.1:p.Asp1508Asn

                                    18.

                                    rs1485712115 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:235746458 (GRCh38)
                                      1:235909758 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:235746457:T:G
                                      Gene:
                                      LYST (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.235746458T>G, NC_000001.10:g.235909758T>G, NG_007397.1:g.142183A>C, NM_000081.4:c.7850A>C, NM_000081.3:c.7850A>C, NM_001301365.1:c.7850A>C, XM_011544033.3:c.8012A>C, XM_011544033.2:c.8012A>C, XM_011544033.1:c.8012A>C, XM_011544037.3:c.8012A>C, XM_011544037.2:c.8012A>C, XM_011544037.1:c.8012A>C, XM_011544036.3:c.5675A>C, XM_011544036.2:c.5675A>C, XM_011544036.1:c.5675A>C, XM_011544035.3:c.8012A>C, XM_011544035.2:c.8012A>C, XM_011544035.1:c.8012A>C, XM_011544032.2:c.8012A>C, XM_011544032.1:c.8012A>C, XM_011544031.2:c.8012A>C, XM_011544031.1:c.8012A>C, XM_047443026.1:c.8012A>C, XM_047443040.1:c.7850A>C, XM_047443034.1:c.5513A>C, XM_047443046.1:c.7850A>C, XM_047443038.1:c.8012A>C, XM_047443027.1:c.7850A>C, NP_000072.2:p.Glu2617Ala, NP_001288294.1:p.Glu2617Ala, XP_011542335.1:p.Glu2671Ala, XP_011542339.1:p.Glu2671Ala, XP_011542338.1:p.Glu1892Ala, XP_011542337.1:p.Glu2671Ala, XP_011542334.1:p.Glu2671Ala, XP_011542333.1:p.Glu2671Ala, XP_047298982.1:p.Glu2671Ala, XP_047298996.1:p.Glu2617Ala, XP_047298990.1:p.Glu1838Ala, XP_047299002.1:p.Glu2617Ala, XP_047298994.1:p.Glu2671Ala, XP_047298983.1:p.Glu2617Ala

                                      19.

                                      rs1485660976 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:235806636 (GRCh38)
                                        1:235969936 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:235806635:C:T
                                        Gene:
                                        LYST (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000047/1 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.235806636C>T, NC_000001.10:g.235969936C>T, NG_007397.1:g.82005G>A, NM_000081.4:c.2500G>A, NM_000081.3:c.2500G>A, NM_001301365.1:c.2500G>A, XM_011544033.3:c.2500G>A, XM_011544033.2:c.2500G>A, XM_011544033.1:c.2500G>A, XM_011544037.3:c.2500G>A, XM_011544037.2:c.2500G>A, XM_011544037.1:c.2500G>A, XM_011544036.3:c.163G>A, XM_011544036.2:c.163G>A, XM_011544036.1:c.163G>A, XM_011544035.3:c.2500G>A, XM_011544035.2:c.2500G>A, XM_011544035.1:c.2500G>A, XM_011544039.3:c.2500G>A, XM_011544039.2:c.2500G>A, XM_011544039.1:c.2500G>A, XM_011544032.2:c.2500G>A, XM_011544032.1:c.2500G>A, XM_011544031.2:c.2500G>A, XM_011544031.1:c.2500G>A, XM_047443026.1:c.2500G>A, XM_047443040.1:c.2500G>A, XM_047443034.1:c.163G>A, XM_047443046.1:c.2500G>A, XM_047443038.1:c.2500G>A, XM_047443027.1:c.2500G>A, NM_001005736.1:c.2500G>A, XM_047443064.1:c.2500G>A, NP_000072.2:p.Ala834Thr, NP_001288294.1:p.Ala834Thr, XP_011542335.1:p.Ala834Thr, XP_011542339.1:p.Ala834Thr, XP_011542338.1:p.Ala55Thr, XP_011542337.1:p.Ala834Thr, XP_011542341.1:p.Ala834Thr, XP_011542334.1:p.Ala834Thr, XP_011542333.1:p.Ala834Thr, XP_047298982.1:p.Ala834Thr, XP_047298996.1:p.Ala834Thr, XP_047298990.1:p.Ala55Thr, XP_047299002.1:p.Ala834Thr, XP_047298994.1:p.Ala834Thr, XP_047298983.1:p.Ala834Thr, XP_047299020.1:p.Ala834Thr

                                        20.

                                        rs1485363866 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:235808642 (GRCh38)
                                          1:235971942 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:235808641:C:G
                                          Gene:
                                          LYST (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.235808642C>G, NC_000001.10:g.235971942C>G, NG_007397.1:g.79999G>C, NM_000081.4:c.2176G>C, NM_000081.3:c.2176G>C, NM_001301365.1:c.2176G>C, XM_011544033.3:c.2176G>C, XM_011544033.2:c.2176G>C, XM_011544033.1:c.2176G>C, XM_011544037.3:c.2176G>C, XM_011544037.2:c.2176G>C, XM_011544037.1:c.2176G>C, XM_011544036.3:c.-538G>C, XM_011544035.3:c.2176G>C, XM_011544035.2:c.2176G>C, XM_011544035.1:c.2176G>C, XM_011544039.3:c.2176G>C, XM_011544039.2:c.2176G>C, XM_011544039.1:c.2176G>C, XM_011544032.2:c.2176G>C, XM_011544032.1:c.2176G>C, XM_011544031.2:c.2176G>C, XM_011544031.1:c.2176G>C, XM_047443026.1:c.2176G>C, XM_047443040.1:c.2176G>C, XM_047443034.1:c.-538G>C, XM_047443046.1:c.2176G>C, XM_047443038.1:c.2176G>C, XM_047443027.1:c.2176G>C, NM_001005736.1:c.2176G>C, XM_047443064.1:c.2176G>C, NP_000072.2:p.Val726Leu, NP_001288294.1:p.Val726Leu, XP_011542335.1:p.Val726Leu, XP_011542339.1:p.Val726Leu, XP_011542337.1:p.Val726Leu, XP_011542341.1:p.Val726Leu, XP_011542334.1:p.Val726Leu, XP_011542333.1:p.Val726Leu, XP_047298982.1:p.Val726Leu, XP_047298996.1:p.Val726Leu, XP_047299002.1:p.Val726Leu, XP_047298994.1:p.Val726Leu, XP_047298983.1:p.Val726Leu, XP_047299020.1:p.Val726Leu

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