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Items: 1 to 20 of 309

1.

rs1490978159 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAG>- [Show Flanks]
    Chromosome:
    15:59516672 (GRCh38)
    15:59808871 (GRCh37)
    Canonical SPDI:
    NC_000015.10:59516666:AGAAGAAG:AGAAG
    Gene:
    FAM81A (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_deletion
    Validated:
    by frequency,by alfa
    MAF:
    AGAAG=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    HGVS:
    NC_000015.10:g.59516669AAG[1], NC_000015.9:g.59808868AAG[1], XM_006720398.4:c.811AAG[1], XM_006720398.3:c.811AAG[1], XM_006720398.2:c.811AAG[1], XM_006720398.1:c.811AAG[1], XM_011521247.3:c.838AAG[1], XM_011521247.2:c.838AAG[1], XM_011521247.1:c.838AAG[1], XM_011521249.3:c.811AAG[1], XM_011521249.2:c.811AAG[1], XM_011521249.1:c.811AAG[1], XM_011521248.3:c.838AAG[1], XM_011521248.2:c.838AAG[1], XM_011521248.1:c.838AAG[1], XM_011521250.3:c.811AAG[1], XM_011521250.2:c.811AAG[1], XM_011521250.1:c.811AAG[1], NM_152450.3:c.811AAG[1], NM_152450.2:c.811AAG[1], XM_005254166.3:c.838AAG[1], XM_005254166.2:c.838AAG[1], XM_005254166.1:c.838AAG[1], XM_017021931.2:c.838AAG[1], XM_017021931.1:c.838AAG[1], XM_024449846.2:c.811AAG[1], XM_024449846.1:c.811AAG[1], XM_017021932.2:c.838AAG[1], XM_017021932.1:c.838AAG[1], XM_047432171.1:c.811AAG[1], XM_047432169.1:c.838AAG[1], XM_047432170.1:c.811AAG[1], XM_047432168.1:c.838AAG[1], XP_006720461.1:p.Lys272del, XP_011519549.1:p.Lys281del, XP_011519551.1:p.Lys272del, XP_011519550.1:p.Lys281del, XP_011519552.1:p.Lys272del, NP_689663.2:p.Lys272del, XP_005254223.1:p.Lys281del, XP_016877420.1:p.Lys281del, XP_024305614.1:p.Lys272del, XP_016877421.1:p.Lys281del, XP_047288127.1:p.Lys272del, XP_047288125.1:p.Lys281del, XP_047288126.1:p.Lys272del, XP_047288124.1:p.Lys281del

    2.

    rs1490205795 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:59507296 (GRCh38)
      15:59799495 (GRCh37)
      Canonical SPDI:
      NC_000015.10:59507295:C:T
      Gene:
      FAM81A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.59507296C>T, NC_000015.9:g.59799495C>T, XM_006720398.4:c.497C>T, XM_006720398.3:c.497C>T, XM_006720398.2:c.497C>T, XM_006720398.1:c.497C>T, XM_011521247.3:c.524C>T, XM_011521247.2:c.524C>T, XM_011521247.1:c.524C>T, XM_011521249.3:c.497C>T, XM_011521249.2:c.497C>T, XM_011521249.1:c.497C>T, XM_011521248.3:c.524C>T, XM_011521248.2:c.524C>T, XM_011521248.1:c.524C>T, XM_011521250.3:c.497C>T, XM_011521250.2:c.497C>T, XM_011521250.1:c.497C>T, NM_152450.3:c.497C>T, NM_152450.2:c.497C>T, XM_005254166.3:c.524C>T, XM_005254166.2:c.524C>T, XM_005254166.1:c.524C>T, XM_017021931.2:c.524C>T, XM_017021931.1:c.524C>T, XM_024449846.2:c.497C>T, XM_024449846.1:c.497C>T, XM_017021932.2:c.524C>T, XM_017021932.1:c.524C>T, XM_047432171.1:c.497C>T, XM_047432169.1:c.524C>T, XM_047432170.1:c.497C>T, XM_047432168.1:c.524C>T, XP_006720461.1:p.Ala166Val, XP_011519549.1:p.Ala175Val, XP_011519551.1:p.Ala166Val, XP_011519550.1:p.Ala175Val, XP_011519552.1:p.Ala166Val, NP_689663.2:p.Ala166Val, XP_005254223.1:p.Ala175Val, XP_016877420.1:p.Ala175Val, XP_024305614.1:p.Ala166Val, XP_016877421.1:p.Ala175Val, XP_047288127.1:p.Ala166Val, XP_047288125.1:p.Ala175Val, XP_047288126.1:p.Ala166Val, XP_047288124.1:p.Ala175Val

      3.

      rs1489990077 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:59514300 (GRCh38)
        15:59806499 (GRCh37)
        Canonical SPDI:
        NC_000015.10:59514299:C:T
        Gene:
        FAM81A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.59514300C>T, NC_000015.9:g.59806499C>T, XM_006720398.4:c.662C>T, XM_006720398.3:c.662C>T, XM_006720398.2:c.662C>T, XM_006720398.1:c.662C>T, XM_011521247.3:c.689C>T, XM_011521247.2:c.689C>T, XM_011521247.1:c.689C>T, XM_011521249.3:c.662C>T, XM_011521249.2:c.662C>T, XM_011521249.1:c.662C>T, XM_011521248.3:c.689C>T, XM_011521248.2:c.689C>T, XM_011521248.1:c.689C>T, XM_011521250.3:c.662C>T, XM_011521250.2:c.662C>T, XM_011521250.1:c.662C>T, NM_152450.3:c.662C>T, NM_152450.2:c.662C>T, XM_005254166.3:c.689C>T, XM_005254166.2:c.689C>T, XM_005254166.1:c.689C>T, XM_017021931.2:c.689C>T, XM_017021931.1:c.689C>T, XM_024449846.2:c.662C>T, XM_024449846.1:c.662C>T, XM_017021932.2:c.689C>T, XM_017021932.1:c.689C>T, XM_047432171.1:c.662C>T, XM_047432169.1:c.689C>T, XM_047432170.1:c.662C>T, XM_047432168.1:c.689C>T, XP_006720461.1:p.Thr221Ile, XP_011519549.1:p.Thr230Ile, XP_011519551.1:p.Thr221Ile, XP_011519550.1:p.Thr230Ile, XP_011519552.1:p.Thr221Ile, NP_689663.2:p.Thr221Ile, XP_005254223.1:p.Thr230Ile, XP_016877420.1:p.Thr230Ile, XP_024305614.1:p.Thr221Ile, XP_016877421.1:p.Thr230Ile, XP_047288127.1:p.Thr221Ile, XP_047288125.1:p.Thr230Ile, XP_047288126.1:p.Thr221Ile, XP_047288124.1:p.Thr230Ile

        4.

        rs1482608559 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          15:59492288 (GRCh38)
          15:59784487 (GRCh37)
          Canonical SPDI:
          NC_000015.10:59492287:T:G
          Gene:
          FAM81A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000015.10:g.59492288T>G, NC_000015.9:g.59784487T>G, XM_006720398.4:c.312T>G, XM_006720398.3:c.312T>G, XM_006720398.2:c.312T>G, XM_006720398.1:c.312T>G, XM_011521247.3:c.339T>G, XM_011521247.2:c.339T>G, XM_011521247.1:c.339T>G, XM_011521249.3:c.312T>G, XM_011521249.2:c.312T>G, XM_011521249.1:c.312T>G, XM_011521248.3:c.339T>G, XM_011521248.2:c.339T>G, XM_011521248.1:c.339T>G, XM_011521250.3:c.312T>G, XM_011521250.2:c.312T>G, XM_011521250.1:c.312T>G, NM_152450.3:c.312T>G, NM_152450.2:c.312T>G, XM_005254166.3:c.339T>G, XM_005254166.2:c.339T>G, XM_005254166.1:c.339T>G, XM_017021931.2:c.339T>G, XM_017021931.1:c.339T>G, XM_024449846.2:c.312T>G, XM_024449846.1:c.312T>G, XM_017021932.2:c.339T>G, XM_017021932.1:c.339T>G, XM_047432171.1:c.312T>G, XM_047432169.1:c.339T>G, XM_047432170.1:c.312T>G, XM_047432168.1:c.339T>G, XP_006720461.1:p.Ile104Met, XP_011519549.1:p.Ile113Met, XP_011519551.1:p.Ile104Met, XP_011519550.1:p.Ile113Met, XP_011519552.1:p.Ile104Met, NP_689663.2:p.Ile104Met, XP_005254223.1:p.Ile113Met, XP_016877420.1:p.Ile113Met, XP_024305614.1:p.Ile104Met, XP_016877421.1:p.Ile113Met, XP_047288127.1:p.Ile104Met, XP_047288125.1:p.Ile113Met, XP_047288126.1:p.Ile104Met, XP_047288124.1:p.Ile113Met

          5.

          rs1480593555 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:59514392 (GRCh38)
            15:59806591 (GRCh37)
            Canonical SPDI:
            NC_000015.10:59514391:G:A
            Gene:
            FAM81A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000051/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.59514392G>A, NC_000015.9:g.59806591G>A, XM_006720398.4:c.754G>A, XM_006720398.3:c.754G>A, XM_006720398.2:c.754G>A, XM_006720398.1:c.754G>A, XM_011521247.3:c.781G>A, XM_011521247.2:c.781G>A, XM_011521247.1:c.781G>A, XM_011521249.3:c.754G>A, XM_011521249.2:c.754G>A, XM_011521249.1:c.754G>A, XM_011521248.3:c.781G>A, XM_011521248.2:c.781G>A, XM_011521248.1:c.781G>A, XM_011521250.3:c.754G>A, XM_011521250.2:c.754G>A, XM_011521250.1:c.754G>A, NM_152450.3:c.754G>A, NM_152450.2:c.754G>A, XM_005254166.3:c.781G>A, XM_005254166.2:c.781G>A, XM_005254166.1:c.781G>A, XM_017021931.2:c.781G>A, XM_017021931.1:c.781G>A, XM_024449846.2:c.754G>A, XM_024449846.1:c.754G>A, XM_017021932.2:c.781G>A, XM_017021932.1:c.781G>A, XM_047432171.1:c.754G>A, XM_047432169.1:c.781G>A, XM_047432170.1:c.754G>A, XM_047432168.1:c.781G>A, XP_006720461.1:p.Asp252Asn, XP_011519549.1:p.Asp261Asn, XP_011519551.1:p.Asp252Asn, XP_011519550.1:p.Asp261Asn, XP_011519552.1:p.Asp252Asn, NP_689663.2:p.Asp252Asn, XP_005254223.1:p.Asp261Asn, XP_016877420.1:p.Asp261Asn, XP_024305614.1:p.Asp252Asn, XP_016877421.1:p.Asp261Asn, XP_047288127.1:p.Asp252Asn, XP_047288125.1:p.Asp261Asn, XP_047288126.1:p.Asp252Asn, XP_047288124.1:p.Asp261Asn

            6.

            rs1480176497 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:59507221 (GRCh38)
              15:59799420 (GRCh37)
              Canonical SPDI:
              NC_000015.10:59507220:C:T
              Gene:
              FAM81A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              HGVS:
              NC_000015.10:g.59507221C>T, NC_000015.9:g.59799420C>T, XM_006720398.4:c.422C>T, XM_006720398.3:c.422C>T, XM_006720398.2:c.422C>T, XM_006720398.1:c.422C>T, XM_011521247.3:c.449C>T, XM_011521247.2:c.449C>T, XM_011521247.1:c.449C>T, XM_011521249.3:c.422C>T, XM_011521249.2:c.422C>T, XM_011521249.1:c.422C>T, XM_011521248.3:c.449C>T, XM_011521248.2:c.449C>T, XM_011521248.1:c.449C>T, XM_011521250.3:c.422C>T, XM_011521250.2:c.422C>T, XM_011521250.1:c.422C>T, NM_152450.3:c.422C>T, NM_152450.2:c.422C>T, XM_005254166.3:c.449C>T, XM_005254166.2:c.449C>T, XM_005254166.1:c.449C>T, XM_017021931.2:c.449C>T, XM_017021931.1:c.449C>T, XM_024449846.2:c.422C>T, XM_024449846.1:c.422C>T, XM_017021932.2:c.449C>T, XM_017021932.1:c.449C>T, XM_047432171.1:c.422C>T, XM_047432169.1:c.449C>T, XM_047432170.1:c.422C>T, XM_047432168.1:c.449C>T, XP_006720461.1:p.Ala141Val, XP_011519549.1:p.Ala150Val, XP_011519551.1:p.Ala141Val, XP_011519550.1:p.Ala150Val, XP_011519552.1:p.Ala141Val, NP_689663.2:p.Ala141Val, XP_005254223.1:p.Ala150Val, XP_016877420.1:p.Ala150Val, XP_024305614.1:p.Ala141Val, XP_016877421.1:p.Ala150Val, XP_047288127.1:p.Ala141Val, XP_047288125.1:p.Ala150Val, XP_047288126.1:p.Ala141Val, XP_047288124.1:p.Ala150Val

              7.

              rs1480074957 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTT [Show Flanks]
                Chromosome:
                15:59516705 (GRCh38)
                15:59808905 (GRCh37)
                Canonical SPDI:
                NC_000015.10:59516705:T:TCTT
                Gene:
                FAM81A (Varview)
                Functional Consequence:
                coding_sequence_variant,inframe_insertion
                Validated:
                by frequency
                MAF:
                TCT=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.59516706_59516707insCTT, NC_000015.9:g.59808905_59808906insCTT, XM_006720398.4:c.848_849insCTT, XM_006720398.3:c.848_849insCTT, XM_006720398.2:c.848_849insCTT, XM_006720398.1:c.848_849insCTT, XM_011521247.3:c.875_876insCTT, XM_011521247.2:c.875_876insCTT, XM_011521247.1:c.875_876insCTT, XM_011521249.3:c.848_849insCTT, XM_011521249.2:c.848_849insCTT, XM_011521249.1:c.848_849insCTT, XM_011521248.3:c.875_876insCTT, XM_011521248.2:c.875_876insCTT, XM_011521248.1:c.875_876insCTT, XM_011521250.3:c.848_849insCTT, XM_011521250.2:c.848_849insCTT, XM_011521250.1:c.848_849insCTT, NM_152450.3:c.848_849insCTT, NM_152450.2:c.848_849insCTT, XM_005254166.3:c.875_876insCTT, XM_005254166.2:c.875_876insCTT, XM_005254166.1:c.875_876insCTT, XM_017021931.2:c.875_876insCTT, XM_017021931.1:c.875_876insCTT, XM_024449846.2:c.848_849insCTT, XM_024449846.1:c.848_849insCTT, XM_017021932.2:c.875_876insCTT, XM_017021932.1:c.875_876insCTT, XM_047432171.1:c.848_849insCTT, XM_047432169.1:c.875_876insCTT, XM_047432170.1:c.848_849insCTT, XM_047432168.1:c.875_876insCTT, XP_006720461.1:p.Glu284_Glu285insLeu, XP_011519549.1:p.Glu293_Glu294insLeu, XP_011519551.1:p.Glu284_Glu285insLeu, XP_011519550.1:p.Glu293_Glu294insLeu, XP_011519552.1:p.Glu284_Glu285insLeu, NP_689663.2:p.Glu284_Glu285insLeu, XP_005254223.1:p.Glu293_Glu294insLeu, XP_016877420.1:p.Glu293_Glu294insLeu, XP_024305614.1:p.Glu284_Glu285insLeu, XP_016877421.1:p.Glu293_Glu294insLeu, XP_047288127.1:p.Glu284_Glu285insLeu, XP_047288125.1:p.Glu293_Glu294insLeu, XP_047288126.1:p.Glu284_Glu285insLeu, XP_047288124.1:p.Glu293_Glu294insLeu

                8.

                rs1473684143 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  15:59507339 (GRCh38)
                  15:59799538 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:59507338:A:T
                  Gene:
                  FAM81A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.59507339A>T, NC_000015.9:g.59799538A>T, XM_006720398.4:c.540A>T, XM_006720398.3:c.540A>T, XM_006720398.2:c.540A>T, XM_006720398.1:c.540A>T, XM_011521247.3:c.567A>T, XM_011521247.2:c.567A>T, XM_011521247.1:c.567A>T, XM_011521249.3:c.540A>T, XM_011521249.2:c.540A>T, XM_011521249.1:c.540A>T, XM_011521248.3:c.567A>T, XM_011521248.2:c.567A>T, XM_011521248.1:c.567A>T, XM_011521250.3:c.540A>T, XM_011521250.2:c.540A>T, XM_011521250.1:c.540A>T, NM_152450.3:c.540A>T, NM_152450.2:c.540A>T, XM_005254166.3:c.567A>T, XM_005254166.2:c.567A>T, XM_005254166.1:c.567A>T, XM_017021931.2:c.567A>T, XM_017021931.1:c.567A>T, XM_024449846.2:c.540A>T, XM_024449846.1:c.540A>T, XM_017021932.2:c.567A>T, XM_017021932.1:c.567A>T, XM_047432171.1:c.540A>T, XM_047432169.1:c.567A>T, XM_047432170.1:c.540A>T, XM_047432168.1:c.567A>T

                  9.

                  rs1472879224 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    15:59507232 (GRCh38)
                    15:59799431 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:59507231:A:C,NC_000015.10:59507231:A:G
                    Gene:
                    FAM81A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000015.10:g.59507232A>C, NC_000015.10:g.59507232A>G, NC_000015.9:g.59799431A>C, NC_000015.9:g.59799431A>G, XM_006720398.4:c.433A>C, XM_006720398.4:c.433A>G, XM_006720398.3:c.433A>C, XM_006720398.3:c.433A>G, XM_006720398.2:c.433A>C, XM_006720398.2:c.433A>G, XM_006720398.1:c.433A>C, XM_006720398.1:c.433A>G, XM_011521247.3:c.460A>C, XM_011521247.3:c.460A>G, XM_011521247.2:c.460A>C, XM_011521247.2:c.460A>G, XM_011521247.1:c.460A>C, XM_011521247.1:c.460A>G, XM_011521249.3:c.433A>C, XM_011521249.3:c.433A>G, XM_011521249.2:c.433A>C, XM_011521249.2:c.433A>G, XM_011521249.1:c.433A>C, XM_011521249.1:c.433A>G, XM_011521248.3:c.460A>C, XM_011521248.3:c.460A>G, XM_011521248.2:c.460A>C, XM_011521248.2:c.460A>G, XM_011521248.1:c.460A>C, XM_011521248.1:c.460A>G, XM_011521250.3:c.433A>C, XM_011521250.3:c.433A>G, XM_011521250.2:c.433A>C, XM_011521250.2:c.433A>G, XM_011521250.1:c.433A>C, XM_011521250.1:c.433A>G, NM_152450.3:c.433A>C, NM_152450.3:c.433A>G, NM_152450.2:c.433A>C, NM_152450.2:c.433A>G, XM_005254166.3:c.460A>C, XM_005254166.3:c.460A>G, XM_005254166.2:c.460A>C, XM_005254166.2:c.460A>G, XM_005254166.1:c.460A>C, XM_005254166.1:c.460A>G, XM_017021931.2:c.460A>C, XM_017021931.2:c.460A>G, XM_017021931.1:c.460A>C, XM_017021931.1:c.460A>G, XM_024449846.2:c.433A>C, XM_024449846.2:c.433A>G, XM_024449846.1:c.433A>C, XM_024449846.1:c.433A>G, XM_017021932.2:c.460A>C, XM_017021932.2:c.460A>G, XM_017021932.1:c.460A>C, XM_017021932.1:c.460A>G, XM_047432171.1:c.433A>C, XM_047432171.1:c.433A>G, XM_047432169.1:c.460A>C, XM_047432169.1:c.460A>G, XM_047432170.1:c.433A>C, XM_047432170.1:c.433A>G, XM_047432168.1:c.460A>C, XM_047432168.1:c.460A>G, XP_006720461.1:p.Arg145Gly, XP_011519549.1:p.Arg154Gly, XP_011519551.1:p.Arg145Gly, XP_011519550.1:p.Arg154Gly, XP_011519552.1:p.Arg145Gly, NP_689663.2:p.Arg145Gly, XP_005254223.1:p.Arg154Gly, XP_016877420.1:p.Arg154Gly, XP_024305614.1:p.Arg145Gly, XP_016877421.1:p.Arg154Gly, XP_047288127.1:p.Arg145Gly, XP_047288125.1:p.Arg154Gly, XP_047288126.1:p.Arg145Gly, XP_047288124.1:p.Arg154Gly

                    10.

                    rs1471712190 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      15:59460161 (GRCh38)
                      15:59752360 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:59460160:C:A
                      Gene:
                      FAM81A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000015.10:g.59460161C>A, NC_000015.9:g.59752360C>A, XM_006720398.4:c.249C>A, XM_006720398.3:c.249C>A, XM_006720398.2:c.249C>A, XM_006720398.1:c.249C>A, XM_011521247.3:c.276C>A, XM_011521247.2:c.276C>A, XM_011521247.1:c.276C>A, XM_011521249.3:c.249C>A, XM_011521249.2:c.249C>A, XM_011521249.1:c.249C>A, XM_011521248.3:c.276C>A, XM_011521248.2:c.276C>A, XM_011521248.1:c.276C>A, XM_011521250.3:c.249C>A, XM_011521250.2:c.249C>A, XM_011521250.1:c.249C>A, NM_152450.3:c.249C>A, NM_152450.2:c.249C>A, XM_005254166.3:c.276C>A, XM_005254166.2:c.276C>A, XM_005254166.1:c.276C>A, XM_017021931.2:c.276C>A, XM_017021931.1:c.276C>A, XM_024449846.2:c.249C>A, XM_024449846.1:c.249C>A, XM_017021932.2:c.276C>A, XM_017021932.1:c.276C>A, XM_047432171.1:c.249C>A, XM_047432169.1:c.276C>A, XM_047432170.1:c.249C>A, XM_047432168.1:c.276C>A

                      11.

                      rs1469158122 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:59516648 (GRCh38)
                        15:59808847 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:59516647:G:A
                        Gene:
                        FAM81A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000015.10:g.59516648G>A, NC_000015.9:g.59808847G>A, XM_006720398.4:c.790G>A, XM_006720398.3:c.790G>A, XM_006720398.2:c.790G>A, XM_006720398.1:c.790G>A, XM_011521247.3:c.817G>A, XM_011521247.2:c.817G>A, XM_011521247.1:c.817G>A, XM_011521249.3:c.790G>A, XM_011521249.2:c.790G>A, XM_011521249.1:c.790G>A, XM_011521248.3:c.817G>A, XM_011521248.2:c.817G>A, XM_011521248.1:c.817G>A, XM_011521250.3:c.790G>A, XM_011521250.2:c.790G>A, XM_011521250.1:c.790G>A, NM_152450.3:c.790G>A, NM_152450.2:c.790G>A, XM_005254166.3:c.817G>A, XM_005254166.2:c.817G>A, XM_005254166.1:c.817G>A, XM_017021931.2:c.817G>A, XM_017021931.1:c.817G>A, XM_024449846.2:c.790G>A, XM_024449846.1:c.790G>A, XM_017021932.2:c.817G>A, XM_017021932.1:c.817G>A, XM_047432171.1:c.790G>A, XM_047432169.1:c.817G>A, XM_047432170.1:c.790G>A, XM_047432168.1:c.817G>A, XP_006720461.1:p.Ala264Thr, XP_011519549.1:p.Ala273Thr, XP_011519551.1:p.Ala264Thr, XP_011519550.1:p.Ala273Thr, XP_011519552.1:p.Ala264Thr, NP_689663.2:p.Ala264Thr, XP_005254223.1:p.Ala273Thr, XP_016877420.1:p.Ala273Thr, XP_024305614.1:p.Ala264Thr, XP_016877421.1:p.Ala273Thr, XP_047288127.1:p.Ala264Thr, XP_047288125.1:p.Ala273Thr, XP_047288126.1:p.Ala264Thr, XP_047288124.1:p.Ala273Thr

                        12.

                        rs1467992119 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:59508931 (GRCh38)
                          15:59801130 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:59508930:C:T
                          Gene:
                          FAM81A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000015.10:g.59508931C>T, NC_000015.9:g.59801130C>T, XM_006720398.4:c.612C>T, XM_006720398.3:c.612C>T, XM_006720398.2:c.612C>T, XM_006720398.1:c.612C>T, XM_011521247.3:c.639C>T, XM_011521247.2:c.639C>T, XM_011521247.1:c.639C>T, XM_011521249.3:c.612C>T, XM_011521249.2:c.612C>T, XM_011521249.1:c.612C>T, XM_011521248.3:c.639C>T, XM_011521248.2:c.639C>T, XM_011521248.1:c.639C>T, XM_011521250.3:c.612C>T, XM_011521250.2:c.612C>T, XM_011521250.1:c.612C>T, NM_152450.3:c.612C>T, NM_152450.2:c.612C>T, XM_005254166.3:c.639C>T, XM_005254166.2:c.639C>T, XM_005254166.1:c.639C>T, XM_017021931.2:c.639C>T, XM_017021931.1:c.639C>T, XM_024449846.2:c.612C>T, XM_024449846.1:c.612C>T, XM_017021932.2:c.639C>T, XM_017021932.1:c.639C>T, XM_047432171.1:c.612C>T, XM_047432169.1:c.639C>T, XM_047432170.1:c.612C>T, XM_047432168.1:c.639C>T

                          13.

                          rs1464236506 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            15:59516810 (GRCh38)
                            15:59809009 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:59516809:A:G
                            Gene:
                            FAM81A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000015.10:g.59516810A>G, NC_000015.9:g.59809009A>G, XM_006720398.4:c.952A>G, XM_006720398.3:c.952A>G, XM_006720398.2:c.952A>G, XM_006720398.1:c.952A>G, XM_011521247.3:c.979A>G, XM_011521247.2:c.979A>G, XM_011521247.1:c.979A>G, XM_011521249.3:c.952A>G, XM_011521249.2:c.952A>G, XM_011521249.1:c.952A>G, XM_011521248.3:c.979A>G, XM_011521248.2:c.979A>G, XM_011521248.1:c.979A>G, XM_011521250.3:c.952A>G, XM_011521250.2:c.952A>G, XM_011521250.1:c.952A>G, NM_152450.3:c.952A>G, NM_152450.2:c.952A>G, XM_005254166.3:c.979A>G, XM_005254166.2:c.979A>G, XM_005254166.1:c.979A>G, XM_017021931.2:c.979A>G, XM_017021931.1:c.979A>G, XM_024449846.2:c.952A>G, XM_024449846.1:c.952A>G, XM_017021932.2:c.979A>G, XM_017021932.1:c.979A>G, XM_047432171.1:c.952A>G, XM_047432169.1:c.979A>G, XM_047432170.1:c.952A>G, XM_047432168.1:c.979A>G, XP_006720461.1:p.Ile318Val, XP_011519549.1:p.Ile327Val, XP_011519551.1:p.Ile318Val, XP_011519550.1:p.Ile327Val, XP_011519552.1:p.Ile318Val, NP_689663.2:p.Ile318Val, XP_005254223.1:p.Ile327Val, XP_016877420.1:p.Ile327Val, XP_024305614.1:p.Ile318Val, XP_016877421.1:p.Ile327Val, XP_047288127.1:p.Ile318Val, XP_047288125.1:p.Ile327Val, XP_047288126.1:p.Ile318Val, XP_047288124.1:p.Ile327Val

                            14.

                            rs1463852978 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:59459937 (GRCh38)
                              15:59752136 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:59459936:G:A
                              Gene:
                              FAM81A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000015.10:g.59459937G>A, NC_000015.9:g.59752136G>A, XM_006720398.4:c.25G>A, XM_006720398.3:c.25G>A, XM_006720398.2:c.25G>A, XM_006720398.1:c.25G>A, XM_011521247.3:c.52G>A, XM_011521247.2:c.52G>A, XM_011521247.1:c.52G>A, XM_011521249.3:c.25G>A, XM_011521249.2:c.25G>A, XM_011521249.1:c.25G>A, XM_011521248.3:c.52G>A, XM_011521248.2:c.52G>A, XM_011521248.1:c.52G>A, XM_011521250.3:c.25G>A, XM_011521250.2:c.25G>A, XM_011521250.1:c.25G>A, NM_152450.3:c.25G>A, NM_152450.2:c.25G>A, XM_005254166.3:c.52G>A, XM_005254166.2:c.52G>A, XM_005254166.1:c.52G>A, XM_017021931.2:c.52G>A, XM_017021931.1:c.52G>A, XM_024449846.2:c.25G>A, XM_024449846.1:c.25G>A, XM_017021932.2:c.52G>A, XM_017021932.1:c.52G>A, XM_047432171.1:c.25G>A, XM_047432169.1:c.52G>A, XM_047432170.1:c.25G>A, XM_047432168.1:c.52G>A, XP_006720461.1:p.Val9Met, XP_011519549.1:p.Val18Met, XP_011519551.1:p.Val9Met, XP_011519550.1:p.Val18Met, XP_011519552.1:p.Val9Met, NP_689663.2:p.Val9Met, XP_005254223.1:p.Val18Met, XP_016877420.1:p.Val18Met, XP_024305614.1:p.Val9Met, XP_016877421.1:p.Val18Met, XP_047288127.1:p.Val9Met, XP_047288125.1:p.Val18Met, XP_047288126.1:p.Val9Met, XP_047288124.1:p.Val18Met

                              15.

                              rs1461668726 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:59507338 (GRCh38)
                                15:59799537 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:59507337:G:A
                                Gene:
                                FAM81A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000015.10:g.59507338G>A, NC_000015.9:g.59799537G>A, XM_006720398.4:c.539G>A, XM_006720398.3:c.539G>A, XM_006720398.2:c.539G>A, XM_006720398.1:c.539G>A, XM_011521247.3:c.566G>A, XM_011521247.2:c.566G>A, XM_011521247.1:c.566G>A, XM_011521249.3:c.539G>A, XM_011521249.2:c.539G>A, XM_011521249.1:c.539G>A, XM_011521248.3:c.566G>A, XM_011521248.2:c.566G>A, XM_011521248.1:c.566G>A, XM_011521250.3:c.539G>A, XM_011521250.2:c.539G>A, XM_011521250.1:c.539G>A, NM_152450.3:c.539G>A, NM_152450.2:c.539G>A, XM_005254166.3:c.566G>A, XM_005254166.2:c.566G>A, XM_005254166.1:c.566G>A, XM_017021931.2:c.566G>A, XM_017021931.1:c.566G>A, XM_024449846.2:c.539G>A, XM_024449846.1:c.539G>A, XM_017021932.2:c.566G>A, XM_017021932.1:c.566G>A, XM_047432171.1:c.539G>A, XM_047432169.1:c.566G>A, XM_047432170.1:c.539G>A, XM_047432168.1:c.566G>A, XP_006720461.1:p.Gly180Glu, XP_011519549.1:p.Gly189Glu, XP_011519551.1:p.Gly180Glu, XP_011519550.1:p.Gly189Glu, XP_011519552.1:p.Gly180Glu, NP_689663.2:p.Gly180Glu, XP_005254223.1:p.Gly189Glu, XP_016877420.1:p.Gly189Glu, XP_024305614.1:p.Gly180Glu, XP_016877421.1:p.Gly189Glu, XP_047288127.1:p.Gly180Glu, XP_047288125.1:p.Gly189Glu, XP_047288126.1:p.Gly180Glu, XP_047288124.1:p.Gly189Glu

                                16.

                                rs1451509444 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:59492347 (GRCh38)
                                  15:59784546 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:59492346:G:A
                                  Gene:
                                  FAM81A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000042/11 (TOPMED)
                                  HGVS:
                                  NC_000015.10:g.59492347G>A, NC_000015.9:g.59784546G>A, XM_006720398.4:c.371G>A, XM_006720398.3:c.371G>A, XM_006720398.2:c.371G>A, XM_006720398.1:c.371G>A, XM_011521247.3:c.398G>A, XM_011521247.2:c.398G>A, XM_011521247.1:c.398G>A, XM_011521249.3:c.371G>A, XM_011521249.2:c.371G>A, XM_011521249.1:c.371G>A, XM_011521248.3:c.398G>A, XM_011521248.2:c.398G>A, XM_011521248.1:c.398G>A, XM_011521250.3:c.371G>A, XM_011521250.2:c.371G>A, XM_011521250.1:c.371G>A, NM_152450.3:c.371G>A, NM_152450.2:c.371G>A, XM_005254166.3:c.398G>A, XM_005254166.2:c.398G>A, XM_005254166.1:c.398G>A, XM_017021931.2:c.398G>A, XM_017021931.1:c.398G>A, XM_024449846.2:c.371G>A, XM_024449846.1:c.371G>A, XM_017021932.2:c.398G>A, XM_017021932.1:c.398G>A, XM_047432171.1:c.371G>A, XM_047432169.1:c.398G>A, XM_047432170.1:c.371G>A, XM_047432168.1:c.398G>A, XP_006720461.1:p.Arg124His, XP_011519549.1:p.Arg133His, XP_011519551.1:p.Arg124His, XP_011519550.1:p.Arg133His, XP_011519552.1:p.Arg124His, NP_689663.2:p.Arg124His, XP_005254223.1:p.Arg133His, XP_016877420.1:p.Arg133His, XP_024305614.1:p.Arg124His, XP_016877421.1:p.Arg133His, XP_047288127.1:p.Arg124His, XP_047288125.1:p.Arg133His, XP_047288126.1:p.Arg124His, XP_047288124.1:p.Arg133His

                                  17.

                                  rs1448979167 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:59459994 (GRCh38)
                                    15:59752193 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:59459993:A:G
                                    Gene:
                                    FAM81A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000015.10:g.59459994A>G, NC_000015.9:g.59752193A>G, XM_006720398.4:c.82A>G, XM_006720398.3:c.82A>G, XM_006720398.2:c.82A>G, XM_006720398.1:c.82A>G, XM_011521247.3:c.109A>G, XM_011521247.2:c.109A>G, XM_011521247.1:c.109A>G, XM_011521249.3:c.82A>G, XM_011521249.2:c.82A>G, XM_011521249.1:c.82A>G, XM_011521248.3:c.109A>G, XM_011521248.2:c.109A>G, XM_011521248.1:c.109A>G, XM_011521250.3:c.82A>G, XM_011521250.2:c.82A>G, XM_011521250.1:c.82A>G, NM_152450.3:c.82A>G, NM_152450.2:c.82A>G, XM_005254166.3:c.109A>G, XM_005254166.2:c.109A>G, XM_005254166.1:c.109A>G, XM_017021931.2:c.109A>G, XM_017021931.1:c.109A>G, XM_024449846.2:c.82A>G, XM_024449846.1:c.82A>G, XM_017021932.2:c.109A>G, XM_017021932.1:c.109A>G, XM_047432171.1:c.82A>G, XM_047432169.1:c.109A>G, XM_047432170.1:c.82A>G, XM_047432168.1:c.109A>G, XP_006720461.1:p.Ser28Gly, XP_011519549.1:p.Ser37Gly, XP_011519551.1:p.Ser28Gly, XP_011519550.1:p.Ser37Gly, XP_011519552.1:p.Ser28Gly, NP_689663.2:p.Ser28Gly, XP_005254223.1:p.Ser37Gly, XP_016877420.1:p.Ser37Gly, XP_024305614.1:p.Ser28Gly, XP_016877421.1:p.Ser37Gly, XP_047288127.1:p.Ser28Gly, XP_047288125.1:p.Ser37Gly, XP_047288126.1:p.Ser28Gly, XP_047288124.1:p.Ser37Gly

                                    18.

                                    rs1448909620 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      15:59516684 (GRCh38)
                                      15:59808883 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:59516683:A:C,NC_000015.10:59516683:A:G
                                      Gene:
                                      FAM81A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.59516684A>C, NC_000015.10:g.59516684A>G, NC_000015.9:g.59808883A>C, NC_000015.9:g.59808883A>G, XM_006720398.4:c.826A>C, XM_006720398.4:c.826A>G, XM_006720398.3:c.826A>C, XM_006720398.3:c.826A>G, XM_006720398.2:c.826A>C, XM_006720398.2:c.826A>G, XM_006720398.1:c.826A>C, XM_006720398.1:c.826A>G, XM_011521247.3:c.853A>C, XM_011521247.3:c.853A>G, XM_011521247.2:c.853A>C, XM_011521247.2:c.853A>G, XM_011521247.1:c.853A>C, XM_011521247.1:c.853A>G, XM_011521249.3:c.826A>C, XM_011521249.3:c.826A>G, XM_011521249.2:c.826A>C, XM_011521249.2:c.826A>G, XM_011521249.1:c.826A>C, XM_011521249.1:c.826A>G, XM_011521248.3:c.853A>C, XM_011521248.3:c.853A>G, XM_011521248.2:c.853A>C, XM_011521248.2:c.853A>G, XM_011521248.1:c.853A>C, XM_011521248.1:c.853A>G, XM_011521250.3:c.826A>C, XM_011521250.3:c.826A>G, XM_011521250.2:c.826A>C, XM_011521250.2:c.826A>G, XM_011521250.1:c.826A>C, XM_011521250.1:c.826A>G, NM_152450.3:c.826A>C, NM_152450.3:c.826A>G, NM_152450.2:c.826A>C, NM_152450.2:c.826A>G, XM_005254166.3:c.853A>C, XM_005254166.3:c.853A>G, XM_005254166.2:c.853A>C, XM_005254166.2:c.853A>G, XM_005254166.1:c.853A>C, XM_005254166.1:c.853A>G, XM_017021931.2:c.853A>C, XM_017021931.2:c.853A>G, XM_017021931.1:c.853A>C, XM_017021931.1:c.853A>G, XM_024449846.2:c.826A>C, XM_024449846.2:c.826A>G, XM_024449846.1:c.826A>C, XM_024449846.1:c.826A>G, XM_017021932.2:c.853A>C, XM_017021932.2:c.853A>G, XM_017021932.1:c.853A>C, XM_017021932.1:c.853A>G, XM_047432171.1:c.826A>C, XM_047432171.1:c.826A>G, XM_047432169.1:c.853A>C, XM_047432169.1:c.853A>G, XM_047432170.1:c.826A>C, XM_047432170.1:c.826A>G, XM_047432168.1:c.853A>C, XM_047432168.1:c.853A>G, XP_006720461.1:p.Met276Leu, XP_006720461.1:p.Met276Val, XP_011519549.1:p.Met285Leu, XP_011519549.1:p.Met285Val, XP_011519551.1:p.Met276Leu, XP_011519551.1:p.Met276Val, XP_011519550.1:p.Met285Leu, XP_011519550.1:p.Met285Val, XP_011519552.1:p.Met276Leu, XP_011519552.1:p.Met276Val, NP_689663.2:p.Met276Leu, NP_689663.2:p.Met276Val, XP_005254223.1:p.Met285Leu, XP_005254223.1:p.Met285Val, XP_016877420.1:p.Met285Leu, XP_016877420.1:p.Met285Val, XP_024305614.1:p.Met276Leu, XP_024305614.1:p.Met276Val, XP_016877421.1:p.Met285Leu, XP_016877421.1:p.Met285Val, XP_047288127.1:p.Met276Leu, XP_047288127.1:p.Met276Val, XP_047288125.1:p.Met285Leu, XP_047288125.1:p.Met285Val, XP_047288126.1:p.Met276Leu, XP_047288126.1:p.Met276Val, XP_047288124.1:p.Met285Leu, XP_047288124.1:p.Met285Val

                                      19.

                                      rs1445420733 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        15:59514411 (GRCh38)
                                        15:59806610 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:59514410:T:C
                                        Gene:
                                        FAM81A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.59514411T>C, NC_000015.9:g.59806610T>C, XM_006720398.4:c.773T>C, XM_006720398.3:c.773T>C, XM_006720398.2:c.773T>C, XM_006720398.1:c.773T>C, XM_011521247.3:c.800T>C, XM_011521247.2:c.800T>C, XM_011521247.1:c.800T>C, XM_011521249.3:c.773T>C, XM_011521249.2:c.773T>C, XM_011521249.1:c.773T>C, XM_011521248.3:c.800T>C, XM_011521248.2:c.800T>C, XM_011521248.1:c.800T>C, XM_011521250.3:c.773T>C, XM_011521250.2:c.773T>C, XM_011521250.1:c.773T>C, NM_152450.3:c.773T>C, NM_152450.2:c.773T>C, XM_005254166.3:c.800T>C, XM_005254166.2:c.800T>C, XM_005254166.1:c.800T>C, XM_017021931.2:c.800T>C, XM_017021931.1:c.800T>C, XM_024449846.2:c.773T>C, XM_024449846.1:c.773T>C, XM_017021932.2:c.800T>C, XM_017021932.1:c.800T>C, XM_047432171.1:c.773T>C, XM_047432169.1:c.800T>C, XM_047432170.1:c.773T>C, XM_047432168.1:c.800T>C, XP_006720461.1:p.Val258Ala, XP_011519549.1:p.Val267Ala, XP_011519551.1:p.Val258Ala, XP_011519550.1:p.Val267Ala, XP_011519552.1:p.Val258Ala, NP_689663.2:p.Val258Ala, XP_005254223.1:p.Val267Ala, XP_016877420.1:p.Val267Ala, XP_024305614.1:p.Val258Ala, XP_016877421.1:p.Val267Ala, XP_047288127.1:p.Val258Ala, XP_047288125.1:p.Val267Ala, XP_047288126.1:p.Val258Ala, XP_047288124.1:p.Val267Ala

                                        20.

                                        rs1439884102 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ACA>- [Show Flanks]
                                          Chromosome:
                                          15:59492302 (GRCh38)
                                          15:59784501 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:59492298:ACAACA:ACA
                                          Gene:
                                          FAM81A (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          ACAACA=0./0 (ALFA)
                                          -=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.59492299ACA[1], NC_000015.9:g.59784498ACA[1], XM_006720398.4:c.323ACA[1], XM_006720398.3:c.323ACA[1], XM_006720398.2:c.323ACA[1], XM_006720398.1:c.323ACA[1], XM_011521247.3:c.350ACA[1], XM_011521247.2:c.350ACA[1], XM_011521247.1:c.350ACA[1], XM_011521249.3:c.323ACA[1], XM_011521249.2:c.323ACA[1], XM_011521249.1:c.323ACA[1], XM_011521248.3:c.350ACA[1], XM_011521248.2:c.350ACA[1], XM_011521248.1:c.350ACA[1], XM_011521250.3:c.323ACA[1], XM_011521250.2:c.323ACA[1], XM_011521250.1:c.323ACA[1], NM_152450.3:c.323ACA[1], NM_152450.2:c.323ACA[1], XM_005254166.3:c.350ACA[1], XM_005254166.2:c.350ACA[1], XM_005254166.1:c.350ACA[1], XM_017021931.2:c.350ACA[1], XM_017021931.1:c.350ACA[1], XM_024449846.2:c.323ACA[1], XM_024449846.1:c.323ACA[1], XM_017021932.2:c.350ACA[1], XM_017021932.1:c.350ACA[1], XM_047432171.1:c.323ACA[1], XM_047432169.1:c.350ACA[1], XM_047432170.1:c.323ACA[1], XM_047432168.1:c.350ACA[1], XP_006720461.1:p.Asn109del, XP_011519549.1:p.Asn118del, XP_011519551.1:p.Asn109del, XP_011519550.1:p.Asn118del, XP_011519552.1:p.Asn109del, NP_689663.2:p.Asn109del, XP_005254223.1:p.Asn118del, XP_016877420.1:p.Asn118del, XP_024305614.1:p.Asn109del, XP_016877421.1:p.Asn118del, XP_047288127.1:p.Asn109del, XP_047288125.1:p.Asn118del, XP_047288126.1:p.Asn109del, XP_047288124.1:p.Asn118del

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