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Items: 1 to 20 of 902

1.

rs1487907397 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:45789080 (GRCh38)
    10:46284528 (GRCh37)
    Canonical SPDI:
    NC_000010.11:45789079:C:T
    Gene:
    WASHC2C (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000035/1 (TOMMO)
    T=0.000039/1 (GnomAD_exomes)
    T=0.000057/15 (TOPMED)
    T=0.000071/10 (GnomAD)
    HGVS:
    NC_000010.11:g.45789080C>T, NC_000010.10:g.46284528C>T, NW_003871068.1:g.60195C>T, XM_011539570.4:c.3123C>T, XM_011539570.3:c.3123C>T, XM_011539570.2:c.3123C>T, XM_011539570.1:c.3123C>T, XM_011539573.4:c.1401C>T, XM_011539573.3:c.1401C>T, XM_011539573.2:c.1401C>T, XM_011539573.1:c.1401C>T, NM_015262.3:c.3234C>T, NM_015262.2:c.3234C>T, XM_011539568.3:c.3210C>T, XM_011539568.2:c.3210C>T, XM_011539568.1:c.3210C>T, XM_017016014.3:c.3174C>T, XM_017016014.2:c.3174C>T, XM_017016014.1:c.3174C>T, XM_011539569.3:c.3144C>T, XM_011539569.2:c.3144C>T, XM_011539569.1:c.3144C>T, XM_017016017.3:c.3138C>T, XM_017016017.2:c.3138C>T, XM_017016017.1:c.3138C>T, NM_001330074.2:c.3297C>T, NM_001330074.1:c.3297C>T, NM_001169106.2:c.3111C>T, NM_001169106.1:c.3111C>T, NM_001169107.2:c.3009C>T, NM_001169107.1:c.3009C>T, NR_159966.1:n.3692C>T, NM_001367412.1:c.2718C>T, NM_001367395.1:c.3360C>T, NM_001367405.1:c.2655C>T, NM_001367407.1:c.2655C>T, NM_001367398.1:c.2646C>T, NM_001367414.1:c.2655C>T, NM_001367393.1:c.3228C>T, NM_001367411.1:c.3036C>T, NM_001367402.1:c.2655C>T, NM_001367403.1:c.3225C>T, NM_001367409.1:c.2973C>T, NM_001367410.1:c.2970C>T, NM_001367400.1:c.3162C>T, NM_001367401.1:c.3147C>T, NM_001367404.1:c.3138C>T, NM_001367406.1:c.1407C>T, XM_047424941.1:c.3102C>T, XM_047424942.1:c.3087C>T, NM_001367408.1:c.3081C>T, XM_047424943.1:c.3075C>T, NM_001367396.1:c.3072C>T, XM_047424944.1:c.3060C>T, XM_047424945.1:c.3057C>T, XM_047424946.1:c.3051C>T, NM_001367394.1:c.3039C>T, XM_047424947.1:c.3036C>T, XM_047424948.1:c.3024C>T, XM_047424949.1:c.3021C>T, NM_001367413.1:c.2778C>T, XM_047424950.1:c.2994C>T, XM_047424951.1:c.2988C>T, XM_047424952.1:c.2985C>T, NM_001367399.1:c.2766C>T, XM_047424957.1:c.2718C>T, XM_047424953.1:c.2958C>T, NM_001367415.1:c.2958C>T, XM_047424954.1:c.2952C>T, XM_047424955.1:c.2934C>T, NM_001367416.1:c.2898C>T, XM_047424956.1:c.2811C>T, XM_047424959.1:c.1407C>T

    2.

    rs1487693288 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      10:45779062 (GRCh38)
      10:46274510 (GRCh37)
      Canonical SPDI:
      NC_000010.11:45779061:G:C
      Gene:
      WASHC2C (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000010.11:g.45779062G>C, NC_000010.10:g.46274510G>C, NW_003871068.1:g.50177G>C, XM_011539570.4:c.2231G>C, XM_011539570.3:c.2231G>C, XM_011539570.2:c.2231G>C, XM_011539570.1:c.2231G>C, XM_011539573.4:c.509G>C, XM_011539573.3:c.509G>C, XM_011539573.2:c.509G>C, XM_011539573.1:c.509G>C, NM_015262.3:c.2405G>C, NM_015262.2:c.2405G>C, XM_011539568.3:c.2318G>C, XM_011539568.2:c.2318G>C, XM_011539568.1:c.2318G>C, XM_017016014.3:c.2405G>C, XM_017016014.2:c.2405G>C, XM_017016014.1:c.2405G>C, XM_011539569.3:c.2252G>C, XM_011539569.2:c.2252G>C, XM_011539569.1:c.2252G>C, XM_017016017.3:c.2246G>C, XM_017016017.2:c.2246G>C, XM_017016017.1:c.2246G>C, NM_001330074.2:c.2405G>C, NM_001330074.1:c.2405G>C, NM_001169106.2:c.2405G>C, NM_001169106.1:c.2405G>C, NM_001169107.2:c.2180G>C, NM_001169107.1:c.2180G>C, NR_159966.1:n.2863G>C, NM_001367412.1:c.1826G>C, NM_001367395.1:c.2468G>C, NM_001367405.1:c.1826G>C, NM_001367407.1:c.1826G>C, NM_001367398.1:c.1754G>C, NM_001367414.1:c.1826G>C, NM_001367393.1:c.2399G>C, NM_001367411.1:c.2144G>C, NM_001367402.1:c.1826G>C, NM_001367403.1:c.2333G>C, NM_001367409.1:c.2144G>C, NM_001367410.1:c.2141G>C, NM_001367400.1:c.2333G>C, NM_001367401.1:c.2318G>C, NM_001367404.1:c.2246G>C, NM_001367406.1:c.515G>C, XM_047424941.1:c.2333G>C, XM_047424942.1:c.2318G>C, NM_001367408.1:c.2252G>C, XM_047424943.1:c.2246G>C, NM_001367396.1:c.2180G>C, NM_001367397.1:c.2405G>C, XM_047424944.1:c.2231G>C, XM_047424945.1:c.2165G>C, XM_047424946.1:c.2159G>C, NM_001367394.1:c.2333G>C, XM_047424947.1:c.2144G>C, XM_047424948.1:c.2318G>C, XM_047424949.1:c.2252G>C, NM_001367413.1:c.2072G>C, XM_047424950.1:c.2165G>C, XM_047424951.1:c.2159G>C, XM_047424952.1:c.2093G>C, NM_001367399.1:c.2141G>C, XM_047424957.1:c.1826G>C, XM_047424953.1:c.2252G>C, NM_001367415.1:c.2333G>C, XM_047424954.1:c.2246G>C, XM_047424955.1:c.2165G>C, NM_001367416.1:c.2405G>C, XM_047424956.1:c.2318G>C, XM_047424959.1:c.515G>C, XP_011537872.1:p.Ser744Thr, XP_011537875.1:p.Ser170Thr, NP_056077.2:p.Ser802Thr, XP_011537870.1:p.Ser773Thr, XP_016871503.1:p.Ser802Thr, XP_011537871.1:p.Ser751Thr, XP_016871506.1:p.Ser749Thr, NP_001317003.1:p.Ser802Thr, NP_001162577.1:p.Ser802Thr, NP_001162578.1:p.Ser727Thr, NP_001354341.1:p.Ser609Thr, NP_001354324.1:p.Ser823Thr, NP_001354334.1:p.Ser609Thr, NP_001354336.1:p.Ser609Thr, NP_001354327.1:p.Ser585Thr, NP_001354343.1:p.Ser609Thr, NP_001354322.1:p.Ser800Thr, NP_001354340.1:p.Ser715Thr, NP_001354331.1:p.Ser609Thr, NP_001354332.1:p.Ser778Thr, NP_001354338.1:p.Ser715Thr, NP_001354339.1:p.Ser714Thr, NP_001354329.1:p.Ser778Thr, NP_001354330.1:p.Ser773Thr, NP_001354333.1:p.Ser749Thr, NP_001354335.1:p.Ser172Thr, XP_047280897.1:p.Ser778Thr, XP_047280898.1:p.Ser773Thr, NP_001354337.1:p.Ser751Thr, XP_047280899.1:p.Ser749Thr, NP_001354325.1:p.Ser727Thr, NP_001354326.1:p.Ser802Thr, XP_047280900.1:p.Ser744Thr, XP_047280901.1:p.Ser722Thr, XP_047280902.1:p.Ser720Thr, NP_001354323.1:p.Ser778Thr, XP_047280903.1:p.Ser715Thr, XP_047280904.1:p.Ser773Thr, XP_047280905.1:p.Ser751Thr, NP_001354342.1:p.Ser691Thr, XP_047280906.1:p.Ser722Thr, XP_047280907.1:p.Ser720Thr, XP_047280908.1:p.Ser698Thr, NP_001354328.1:p.Ser714Thr, XP_047280913.1:p.Ser609Thr, XP_047280909.1:p.Ser751Thr, NP_001354344.1:p.Ser778Thr, XP_047280910.1:p.Ser749Thr, XP_047280911.1:p.Ser722Thr, NP_001354345.1:p.Ser802Thr, XP_047280912.1:p.Ser773Thr, XP_047280915.1:p.Ser172Thr

      3.

      rs1487124761 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:45765727 (GRCh38)
        10:46261175 (GRCh37)
        Canonical SPDI:
        NC_000010.11:45765726:C:T
        Gene:
        WASHC2C (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,synonymous_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000010.11:g.45765727C>T, NC_000010.10:g.46261175C>T, NW_003871068.1:g.36842C>T, XM_011539570.4:c.1612C>T, XM_011539570.3:c.1612C>T, XM_011539570.2:c.1612C>T, XM_011539570.1:c.1612C>T, NM_015262.3:c.1786C>T, NM_015262.2:c.1786C>T, XM_011539568.3:c.1699C>T, XM_011539568.2:c.1699C>T, XM_011539568.1:c.1699C>T, XM_017016014.3:c.1786C>T, XM_017016014.2:c.1786C>T, XM_017016014.1:c.1786C>T, XM_011539569.3:c.1786C>T, XM_011539569.2:c.1786C>T, XM_011539569.1:c.1786C>T, XM_017016017.3:c.1627C>T, XM_017016017.2:c.1627C>T, XM_017016017.1:c.1627C>T, XM_011539572.3:c.1786C>T, XM_011539572.2:c.1786C>T, XM_011539572.1:c.1786C>T, NM_001330074.2:c.1786C>T, NM_001330074.1:c.1786C>T, NM_001169106.2:c.1786C>T, NM_001169106.1:c.1786C>T, NM_001169107.2:c.1714C>T, NM_001169107.1:c.1714C>T, NR_159966.1:n.2244C>T, NM_001367412.1:c.1207C>T, NM_001367395.1:c.1714C>T, NM_001367405.1:c.1207C>T, NM_001367407.1:c.1207C>T, NM_001367398.1:c.1135C>T, NM_001367414.1:c.1207C>T, NM_001367393.1:c.1780C>T, NM_001367411.1:c.1525C>T, NM_001367402.1:c.1207C>T, NM_001367403.1:c.1714C>T, NM_001367409.1:c.1525C>T, NM_001367410.1:c.1522C>T, NM_001367400.1:c.1714C>T, NM_001367401.1:c.1699C>T, NM_001367404.1:c.1627C>T, NM_001367406.1:c.66C>T, XM_047424941.1:c.1714C>T, XM_047424942.1:c.1699C>T, NM_001367408.1:c.1786C>T, XM_047424943.1:c.1627C>T, NM_001367396.1:c.1714C>T, NM_001367397.1:c.1786C>T, XM_047424944.1:c.1612C>T, XM_047424945.1:c.1699C>T, XM_047424946.1:c.1540C>T, NM_001367394.1:c.1714C>T, XM_047424947.1:c.1525C>T, XM_047424948.1:c.1699C>T, XM_047424949.1:c.1786C>T, NM_001367413.1:c.1453C>T, XM_047424950.1:c.1699C>T, XM_047424951.1:c.1540C>T, XM_047424952.1:c.1627C>T, NM_001367399.1:c.1522C>T, XM_047424957.1:c.1207C>T, XM_047424953.1:c.1786C>T, NM_001367415.1:c.1714C>T, XM_047424954.1:c.1627C>T, XM_047424955.1:c.1699C>T, NM_001367416.1:c.1786C>T, XM_047424956.1:c.1699C>T, XM_047424959.1:c.66C>T, XP_011537872.1:p.Gln538Ter, NP_056077.2:p.Gln596Ter, XP_011537870.1:p.Gln567Ter, XP_016871503.1:p.Gln596Ter, XP_011537871.1:p.Gln596Ter, XP_016871506.1:p.Gln543Ter, XP_011537874.1:p.Gln596Ter, NP_001317003.1:p.Gln596Ter, NP_001162577.1:p.Gln596Ter, NP_001162578.1:p.Gln572Ter, NP_001354341.1:p.Gln403Ter, NP_001354324.1:p.Gln572Ter, NP_001354334.1:p.Gln403Ter, NP_001354336.1:p.Gln403Ter, NP_001354327.1:p.Gln379Ter, NP_001354343.1:p.Gln403Ter, NP_001354322.1:p.Gln594Ter, NP_001354340.1:p.Gln509Ter, NP_001354331.1:p.Gln403Ter, NP_001354332.1:p.Gln572Ter, NP_001354338.1:p.Gln509Ter, NP_001354339.1:p.Gln508Ter, NP_001354329.1:p.Gln572Ter, NP_001354330.1:p.Gln567Ter, NP_001354333.1:p.Gln543Ter, XP_047280897.1:p.Gln572Ter, XP_047280898.1:p.Gln567Ter, NP_001354337.1:p.Gln596Ter, XP_047280899.1:p.Gln543Ter, NP_001354325.1:p.Gln572Ter, NP_001354326.1:p.Gln596Ter, XP_047280900.1:p.Gln538Ter, XP_047280901.1:p.Gln567Ter, XP_047280902.1:p.Gln514Ter, NP_001354323.1:p.Gln572Ter, XP_047280903.1:p.Gln509Ter, XP_047280904.1:p.Gln567Ter, XP_047280905.1:p.Gln596Ter, NP_001354342.1:p.Gln485Ter, XP_047280906.1:p.Gln567Ter, XP_047280907.1:p.Gln514Ter, XP_047280908.1:p.Gln543Ter, NP_001354328.1:p.Gln508Ter, XP_047280913.1:p.Gln403Ter, XP_047280909.1:p.Gln596Ter, NP_001354344.1:p.Gln572Ter, XP_047280910.1:p.Gln543Ter, XP_047280911.1:p.Gln567Ter, NP_001354345.1:p.Gln596Ter, XP_047280912.1:p.Gln567Ter

        4.

        rs1486943613 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:45727502 (GRCh38)
          10:46222950 (GRCh37)
          Canonical SPDI:
          NC_000010.11:45727501:G:A
          Gene:
          WASHC2C (Varview), LOC107984227 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000005/1 (GnomAD_exomes)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000010.11:g.45727502G>A, NC_000010.10:g.46222950G>A, XM_011539570.4:c.89G>A, XM_011539570.3:c.89G>A, XM_011539570.2:c.89G>A, XM_011539570.1:c.89G>A, NM_015262.3:c.89G>A, NM_015262.2:c.89G>A, XM_011539568.3:c.89G>A, XM_011539568.2:c.89G>A, XM_011539568.1:c.89G>A, XM_017016014.3:c.89G>A, XM_017016014.2:c.89G>A, XM_017016014.1:c.89G>A, XM_011539569.3:c.89G>A, XM_011539569.2:c.89G>A, XM_011539569.1:c.89G>A, XM_017016017.3:c.89G>A, XM_017016017.2:c.89G>A, XM_017016017.1:c.89G>A, XM_011539572.3:c.89G>A, XM_011539572.2:c.89G>A, XM_011539572.1:c.89G>A, NM_001330074.2:c.89G>A, NM_001330074.1:c.89G>A, NM_001169106.2:c.89G>A, NM_001169106.1:c.89G>A, NM_001169107.2:c.89G>A, NM_001169107.1:c.89G>A, NR_159966.1:n.141G>A, NM_001367412.1:c.-588G>A, NM_001367395.1:c.89G>A, NM_001367405.1:c.-605G>A, NM_001367407.1:c.-594G>A, NM_001367398.1:c.-588G>A, NM_001367414.1:c.-561G>A, NM_001367393.1:c.86G>A, NM_001367411.1:c.-129G>A, NM_001367402.1:c.-494G>A, NM_001367403.1:c.89G>A, NM_001367409.1:c.-129G>A, NM_001367410.1:c.-129G>A, NM_001367400.1:c.89G>A, NM_001367401.1:c.89G>A, NM_001367404.1:c.89G>A, NM_001367406.1:c.-1632G>A, XM_047424941.1:c.89G>A, XM_047424942.1:c.89G>A, NM_001367408.1:c.89G>A, XM_047424943.1:c.89G>A, NM_001367396.1:c.89G>A, NM_001367397.1:c.89G>A, XM_047424944.1:c.89G>A, XM_047424945.1:c.89G>A, XM_047424946.1:c.89G>A, NM_001367394.1:c.89G>A, XM_047424947.1:c.89G>A, XM_047424948.1:c.89G>A, XM_047424949.1:c.89G>A, NM_001367413.1:c.-129G>A, XM_047424950.1:c.89G>A, XM_047424951.1:c.89G>A, XM_047424952.1:c.89G>A, NM_001367399.1:c.-129G>A, XM_047424953.1:c.89G>A, NM_001367415.1:c.89G>A, XM_047424954.1:c.89G>A, XM_047424955.1:c.89G>A, NM_001367416.1:c.89G>A, XM_047424956.1:c.89G>A, XP_011537872.1:p.Arg30Lys, NP_056077.2:p.Arg30Lys, XP_011537870.1:p.Arg30Lys, XP_016871503.1:p.Arg30Lys, XP_011537871.1:p.Arg30Lys, XP_016871506.1:p.Arg30Lys, XP_011537874.1:p.Arg30Lys, NP_001317003.1:p.Arg30Lys, NP_001162577.1:p.Arg30Lys, NP_001162578.1:p.Arg30Lys, NP_001354324.1:p.Arg30Lys, NP_001354322.1:p.Arg29Lys, NP_001354332.1:p.Arg30Lys, NP_001354329.1:p.Arg30Lys, NP_001354330.1:p.Arg30Lys, NP_001354333.1:p.Arg30Lys, XP_047280897.1:p.Arg30Lys, XP_047280898.1:p.Arg30Lys, NP_001354337.1:p.Arg30Lys, XP_047280899.1:p.Arg30Lys, NP_001354325.1:p.Arg30Lys, NP_001354326.1:p.Arg30Lys, XP_047280900.1:p.Arg30Lys, XP_047280901.1:p.Arg30Lys, XP_047280902.1:p.Arg30Lys, NP_001354323.1:p.Arg30Lys, XP_047280903.1:p.Arg30Lys, XP_047280904.1:p.Arg30Lys, XP_047280905.1:p.Arg30Lys, XP_047280906.1:p.Arg30Lys, XP_047280907.1:p.Arg30Lys, XP_047280908.1:p.Arg30Lys, XP_047280909.1:p.Arg30Lys, NP_001354344.1:p.Arg30Lys, XP_047280910.1:p.Arg30Lys, XP_047280911.1:p.Arg30Lys, NP_001354345.1:p.Arg30Lys, XP_047280912.1:p.Arg30Lys

          5.

          rs1486069665 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:45740144 (GRCh38)
            10:46235592 (GRCh37)
            Canonical SPDI:
            NC_000010.11:45740143:A:G
            Gene:
            WASHC2C (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.00008/1 (ALFA)
            G=0.00001/1 (GnomAD)
            HGVS:
            NC_000010.11:g.45740144A>G, NC_000010.10:g.46235592A>G, NW_003871068.1:g.11259A>G, NM_015262.3:c.426A>G, NM_015262.2:c.426A>G, XM_011539568.3:c.426A>G, XM_011539568.2:c.426A>G, XM_011539568.1:c.426A>G, XM_017016014.3:c.426A>G, XM_017016014.2:c.426A>G, XM_017016014.1:c.426A>G, XM_011539569.3:c.426A>G, XM_011539569.2:c.426A>G, XM_011539569.1:c.426A>G, XM_017016017.3:c.426A>G, XM_017016017.2:c.426A>G, XM_017016017.1:c.426A>G, XM_011539572.3:c.426A>G, XM_011539572.2:c.426A>G, XM_011539572.1:c.426A>G, NM_001330074.2:c.426A>G, NM_001330074.1:c.426A>G, NM_001169106.2:c.426A>G, NM_001169106.1:c.426A>G, NM_001169107.2:c.426A>G, NM_001169107.1:c.426A>G, NR_159966.1:n.478A>G, NM_001367412.1:c.-251A>G, NM_001367395.1:c.426A>G, NM_001367405.1:c.-268A>G, NM_001367407.1:c.-248A>G, NM_001367398.1:c.-251A>G, NM_001367414.1:c.-268A>G, NM_001367393.1:c.423A>G, NM_001367411.1:c.165A>G, NM_001367402.1:c.-154A>G, NM_001367403.1:c.426A>G, NM_001367409.1:c.165A>G, NM_001367410.1:c.165A>G, NM_001367400.1:c.426A>G, NM_001367401.1:c.426A>G, NM_001367404.1:c.426A>G, NM_001367406.1:c.-1295A>G, XM_047424941.1:c.426A>G, XM_047424942.1:c.426A>G, NM_001367408.1:c.426A>G, XM_047424943.1:c.426A>G, NM_001367396.1:c.426A>G, NM_001367397.1:c.426A>G, XM_047424945.1:c.426A>G, NM_001367394.1:c.426A>G, XM_047424948.1:c.426A>G, XM_047424949.1:c.426A>G, NM_001367413.1:c.165A>G, XM_047424950.1:c.426A>G, XM_047424952.1:c.426A>G, NM_001367399.1:c.165A>G, XM_047424957.1:c.-154A>G, XM_047424953.1:c.426A>G, NM_001367415.1:c.426A>G, XM_047424954.1:c.426A>G, XM_047424955.1:c.426A>G, NM_001367416.1:c.426A>G, XM_047424956.1:c.426A>G

            6.

            rs1484417259 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:45754942 (GRCh38)
              10:46250390 (GRCh37)
              Canonical SPDI:
              NC_000010.11:45754941:C:T
              Gene:
              WASHC2C (Varview)
              Functional Consequence:
              5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              NC_000010.11:g.45754942C>T, NC_000010.10:g.46250390C>T, NW_003871068.1:g.26057C>T, XM_011539570.4:c.1073C>T, XM_011539570.3:c.1073C>T, XM_011539570.2:c.1073C>T, XM_011539570.1:c.1073C>T, NM_015262.3:c.1247C>T, NM_015262.2:c.1247C>T, XM_011539568.3:c.1247C>T, XM_011539568.2:c.1247C>T, XM_011539568.1:c.1247C>T, XM_017016014.3:c.1247C>T, XM_017016014.2:c.1247C>T, XM_017016014.1:c.1247C>T, XM_011539569.3:c.1247C>T, XM_011539569.2:c.1247C>T, XM_011539569.1:c.1247C>T, XM_017016017.3:c.1175C>T, XM_017016017.2:c.1175C>T, XM_017016017.1:c.1175C>T, XM_011539572.3:c.1247C>T, XM_011539572.2:c.1247C>T, XM_011539572.1:c.1247C>T, NM_001330074.2:c.1247C>T, NM_001330074.1:c.1247C>T, NM_001169106.2:c.1247C>T, NM_001169106.1:c.1247C>T, NM_001169107.2:c.1175C>T, NM_001169107.1:c.1175C>T, NR_159966.1:n.1509C>T, NM_001367412.1:c.668C>T, NM_001367395.1:c.1175C>T, NM_001367405.1:c.668C>T, NM_001367407.1:c.668C>T, NM_001367398.1:c.596C>T, NM_001367414.1:c.668C>T, NM_001367393.1:c.1241C>T, NM_001367411.1:c.986C>T, NM_001367402.1:c.668C>T, NM_001367403.1:c.1175C>T, NM_001367409.1:c.986C>T, NM_001367410.1:c.983C>T, NM_001367400.1:c.1175C>T, NM_001367401.1:c.1247C>T, NM_001367404.1:c.1088C>T, NM_001367406.1:c.-474C>T, XM_047424941.1:c.1175C>T, XM_047424942.1:c.1247C>T, NM_001367408.1:c.1247C>T, XM_047424943.1:c.1175C>T, NM_001367396.1:c.1175C>T, NM_001367397.1:c.1247C>T, XM_047424944.1:c.1073C>T, XM_047424945.1:c.1247C>T, XM_047424946.1:c.1001C>T, NM_001367394.1:c.1175C>T, XM_047424947.1:c.1073C>T, XM_047424948.1:c.1247C>T, XM_047424949.1:c.1247C>T, NM_001367413.1:c.914C>T, XM_047424950.1:c.1247C>T, XM_047424951.1:c.1001C>T, XM_047424952.1:c.1175C>T, NM_001367399.1:c.983C>T, XM_047424957.1:c.668C>T, XM_047424953.1:c.1247C>T, NM_001367415.1:c.1175C>T, XM_047424954.1:c.1175C>T, XM_047424955.1:c.1247C>T, NM_001367416.1:c.1247C>T, XM_047424956.1:c.1247C>T, XP_011537872.1:p.Thr358Met, NP_056077.2:p.Thr416Met, XP_011537870.1:p.Thr416Met, XP_016871503.1:p.Thr416Met, XP_011537871.1:p.Thr416Met, XP_016871506.1:p.Thr392Met, XP_011537874.1:p.Thr416Met, NP_001317003.1:p.Thr416Met, NP_001162577.1:p.Thr416Met, NP_001162578.1:p.Thr392Met, NP_001354341.1:p.Thr223Met, NP_001354324.1:p.Thr392Met, NP_001354334.1:p.Thr223Met, NP_001354336.1:p.Thr223Met, NP_001354327.1:p.Thr199Met, NP_001354343.1:p.Thr223Met, NP_001354322.1:p.Thr414Met, NP_001354340.1:p.Thr329Met, NP_001354331.1:p.Thr223Met, NP_001354332.1:p.Thr392Met, NP_001354338.1:p.Thr329Met, NP_001354339.1:p.Thr328Met, NP_001354329.1:p.Thr392Met, NP_001354330.1:p.Thr416Met, NP_001354333.1:p.Thr363Met, XP_047280897.1:p.Thr392Met, XP_047280898.1:p.Thr416Met, NP_001354337.1:p.Thr416Met, XP_047280899.1:p.Thr392Met, NP_001354325.1:p.Thr392Met, NP_001354326.1:p.Thr416Met, XP_047280900.1:p.Thr358Met, XP_047280901.1:p.Thr416Met, XP_047280902.1:p.Thr334Met, NP_001354323.1:p.Thr392Met, XP_047280903.1:p.Thr358Met, XP_047280904.1:p.Thr416Met, XP_047280905.1:p.Thr416Met, NP_001354342.1:p.Thr305Met, XP_047280906.1:p.Thr416Met, XP_047280907.1:p.Thr334Met, XP_047280908.1:p.Thr392Met, NP_001354328.1:p.Thr328Met, XP_047280913.1:p.Thr223Met, XP_047280909.1:p.Thr416Met, NP_001354344.1:p.Thr392Met, XP_047280910.1:p.Thr392Met, XP_047280911.1:p.Thr416Met, NP_001354345.1:p.Thr416Met, XP_047280912.1:p.Thr416Met

              7.

              rs1483987722 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                10:45787226 (GRCh38)
                10:46282675 (GRCh37)
                Canonical SPDI:
                NC_000010.11:45787226:A:AA
                Gene:
                WASHC2C (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                A=0.000015/4 (TOPMED)
                HGVS:
                NC_000010.11:g.45787227dup, NC_000010.10:g.46282675dup, NW_003871068.1:g.58342dup, XM_011539570.4:c.2893dup, XM_011539570.3:c.2893dup, XM_011539570.2:c.2893dup, XM_011539570.1:c.2893dup, XM_011539573.4:c.1171dup, XM_011539573.3:c.1171dup, XM_011539573.2:c.1171dup, XM_011539573.1:c.1171dup, NM_015262.3:c.3004dup, NM_015262.2:c.3004dup, XM_011539568.3:c.2980dup, XM_011539568.2:c.2980dup, XM_011539568.1:c.2980dup, XM_017016014.3:c.2944dup, XM_017016014.2:c.2944dup, XM_017016014.1:c.2944dup, XM_011539569.3:c.2914dup, XM_011539569.2:c.2914dup, XM_011539569.1:c.2914dup, XM_017016017.3:c.2908dup, XM_017016017.2:c.2908dup, XM_017016017.1:c.2908dup, NM_001330074.2:c.3067dup, NM_001330074.1:c.3067dup, NM_001169106.2:c.2881dup, NM_001169106.1:c.2881dup, NM_001169107.2:c.2779dup, NM_001169107.1:c.2779dup, NR_159966.1:n.3462dup, NM_001367412.1:c.2488dup, NM_001367395.1:c.3130dup, NM_001367405.1:c.2425dup, NM_001367407.1:c.2425dup, NM_001367398.1:c.2416dup, NM_001367414.1:c.2425dup, NM_001367393.1:c.2998dup, NM_001367411.1:c.2806dup, NM_001367402.1:c.2425dup, NM_001367403.1:c.2995dup, NM_001367409.1:c.2743dup, NM_001367410.1:c.2740dup, NM_001367400.1:c.2932dup, NM_001367401.1:c.2917dup, NM_001367404.1:c.2908dup, NM_001367406.1:c.1177dup, XM_047424941.1:c.2872dup, XM_047424942.1:c.2857dup, NM_001367408.1:c.2851dup, XM_047424943.1:c.2845dup, NM_001367396.1:c.2842dup, NM_001367397.1:c.3067dup, XM_047424944.1:c.2830dup, XM_047424945.1:c.2827dup, XM_047424946.1:c.2821dup, NM_001367394.1:c.2809dup, XM_047424947.1:c.2806dup, XM_047424948.1:c.2794dup, XM_047424949.1:c.2791dup, NM_001367413.1:c.2548dup, XM_047424950.1:c.2764dup, XM_047424951.1:c.2758dup, XM_047424952.1:c.2755dup, NM_001367399.1:c.2536dup, XM_047424957.1:c.2488dup, XM_047424953.1:c.2728dup, NM_001367415.1:c.2728dup, XM_047424954.1:c.2722dup, XM_047424955.1:c.2704dup, XM_047424959.1:c.1177dup, XP_011537872.1:p.Thr965fs, XP_011537875.1:p.Thr391fs, NP_056077.2:p.Thr1002fs, XP_011537870.1:p.Thr994fs, XP_016871503.1:p.Thr982fs, XP_011537871.1:p.Thr972fs, XP_016871506.1:p.Thr970fs, NP_001317003.1:p.Thr1023fs, NP_001162577.1:p.Thr961fs, NP_001162578.1:p.Thr927fs, NP_001354341.1:p.Thr830fs, NP_001354324.1:p.Thr1044fs, NP_001354334.1:p.Thr809fs, NP_001354336.1:p.Thr809fs, NP_001354327.1:p.Thr806fs, NP_001354343.1:p.Thr809fs, NP_001354322.1:p.Thr1000fs, NP_001354340.1:p.Thr936fs, NP_001354331.1:p.Thr809fs, NP_001354332.1:p.Thr999fs, NP_001354338.1:p.Thr915fs, NP_001354339.1:p.Thr914fs, NP_001354329.1:p.Thr978fs, NP_001354330.1:p.Thr973fs, NP_001354333.1:p.Thr970fs, NP_001354335.1:p.Thr393fs, XP_047280897.1:p.Thr958fs, XP_047280898.1:p.Thr953fs, NP_001354337.1:p.Thr951fs, XP_047280899.1:p.Thr949fs, NP_001354325.1:p.Thr948fs, NP_001354326.1:p.Thr1023fs, XP_047280900.1:p.Thr944fs, XP_047280901.1:p.Thr943fs, XP_047280902.1:p.Thr941fs, NP_001354323.1:p.Thr937fs, XP_047280903.1:p.Thr936fs, XP_047280904.1:p.Thr932fs, XP_047280905.1:p.Thr931fs, NP_001354342.1:p.Thr850fs, XP_047280906.1:p.Thr922fs, XP_047280907.1:p.Thr920fs, XP_047280908.1:p.Thr919fs, NP_001354328.1:p.Thr846fs, XP_047280913.1:p.Thr830fs, XP_047280909.1:p.Thr910fs, NP_001354344.1:p.Thr910fs, XP_047280910.1:p.Thr908fs, XP_047280911.1:p.Thr902fs, XP_047280915.1:p.Thr393fs

                8.

                rs1482849862 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:45790419 (GRCh38)
                  10:46285867 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:45790418:T:C
                  Gene:
                  WASHC2C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.000106/3 (TOMMO)
                  HGVS:
                  NC_000010.11:g.45790419T>C, NC_000010.10:g.46285867T>C, NW_003871068.1:g.61534T>C, XM_011539570.4:c.3598T>C, XM_011539570.3:c.3598T>C, XM_011539570.2:c.3598T>C, XM_011539570.1:c.3598T>C, XM_011539573.4:c.1876T>C, XM_011539573.3:c.1876T>C, XM_011539573.2:c.1876T>C, XM_011539573.1:c.1876T>C, NM_015262.3:c.3709T>C, NM_015262.2:c.3709T>C, XM_011539568.3:c.3685T>C, XM_011539568.2:c.3685T>C, XM_011539568.1:c.3685T>C, XM_017016014.3:c.3649T>C, XM_017016014.2:c.3649T>C, XM_017016014.1:c.3649T>C, XM_011539569.3:c.3619T>C, XM_011539569.2:c.3619T>C, XM_011539569.1:c.3619T>C, XM_017016017.3:c.3613T>C, XM_017016017.2:c.3613T>C, XM_017016017.1:c.3613T>C, NM_001330074.2:c.3772T>C, NM_001330074.1:c.3772T>C, NM_001169106.2:c.3586T>C, NM_001169106.1:c.3586T>C, NM_001169107.2:c.3484T>C, NM_001169107.1:c.3484T>C, NR_159966.1:n.4167T>C, NM_001367412.1:c.3193T>C, NM_001367395.1:c.3835T>C, NM_001367405.1:c.3130T>C, NM_001367407.1:c.3130T>C, NM_001367398.1:c.3121T>C, NM_001367414.1:c.3130T>C, NM_001367393.1:c.3703T>C, NM_001367411.1:c.3511T>C, NM_001367402.1:c.3130T>C, NM_001367403.1:c.3700T>C, NM_001367409.1:c.3448T>C, NM_001367410.1:c.3445T>C, NM_001367400.1:c.3637T>C, NM_001367401.1:c.3622T>C, NM_001367404.1:c.3613T>C, NM_001367406.1:c.1882T>C, XM_047424941.1:c.3577T>C, XM_047424942.1:c.3562T>C, NM_001367408.1:c.3556T>C, XM_047424943.1:c.3550T>C, NM_001367396.1:c.3547T>C, NM_001367397.1:c.3544T>C, XM_047424944.1:c.3535T>C, XM_047424945.1:c.3532T>C, XM_047424946.1:c.3526T>C, NM_001367394.1:c.3514T>C, XM_047424947.1:c.3511T>C, XM_047424948.1:c.3499T>C, XM_047424949.1:c.3496T>C, NM_001367413.1:c.3253T>C, XM_047424950.1:c.3469T>C, XM_047424951.1:c.3463T>C, XM_047424952.1:c.3460T>C, NM_001367399.1:c.3241T>C, XM_047424957.1:c.3193T>C, XM_047424953.1:c.3433T>C, NM_001367415.1:c.3433T>C, XM_047424954.1:c.3427T>C, XM_047424955.1:c.3409T>C, NM_001367416.1:c.3373T>C, XM_047424956.1:c.3286T>C, XM_047424959.1:c.1882T>C

                  9.

                  rs1482249757 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    10:45790414 (GRCh38)
                    10:46285862 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:45790413:A:C
                    Gene:
                    WASHC2C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000356/5 (ALFA)
                    C=0.000083/22 (TOPMED)
                    C=0.000086/12 (GnomAD)
                    HGVS:
                    NC_000010.11:g.45790414A>C, NC_000010.10:g.46285862A>C, NW_003871068.1:g.61529A>C, XM_011539570.4:c.3593A>C, XM_011539570.3:c.3593A>C, XM_011539570.2:c.3593A>C, XM_011539570.1:c.3593A>C, XM_011539573.4:c.1871A>C, XM_011539573.3:c.1871A>C, XM_011539573.2:c.1871A>C, XM_011539573.1:c.1871A>C, NM_015262.3:c.3704A>C, NM_015262.2:c.3704A>C, XM_011539568.3:c.3680A>C, XM_011539568.2:c.3680A>C, XM_011539568.1:c.3680A>C, XM_017016014.3:c.3644A>C, XM_017016014.2:c.3644A>C, XM_017016014.1:c.3644A>C, XM_011539569.3:c.3614A>C, XM_011539569.2:c.3614A>C, XM_011539569.1:c.3614A>C, XM_017016017.3:c.3608A>C, XM_017016017.2:c.3608A>C, XM_017016017.1:c.3608A>C, NM_001330074.2:c.3767A>C, NM_001330074.1:c.3767A>C, NM_001169106.2:c.3581A>C, NM_001169106.1:c.3581A>C, NM_001169107.2:c.3479A>C, NM_001169107.1:c.3479A>C, NR_159966.1:n.4162A>C, NM_001367412.1:c.3188A>C, NM_001367395.1:c.3830A>C, NM_001367405.1:c.3125A>C, NM_001367407.1:c.3125A>C, NM_001367398.1:c.3116A>C, NM_001367414.1:c.3125A>C, NM_001367393.1:c.3698A>C, NM_001367411.1:c.3506A>C, NM_001367402.1:c.3125A>C, NM_001367403.1:c.3695A>C, NM_001367409.1:c.3443A>C, NM_001367410.1:c.3440A>C, NM_001367400.1:c.3632A>C, NM_001367401.1:c.3617A>C, NM_001367404.1:c.3608A>C, NM_001367406.1:c.1877A>C, XM_047424941.1:c.3572A>C, XM_047424942.1:c.3557A>C, NM_001367408.1:c.3551A>C, XM_047424943.1:c.3545A>C, NM_001367396.1:c.3542A>C, NM_001367397.1:c.3539A>C, XM_047424944.1:c.3530A>C, XM_047424945.1:c.3527A>C, XM_047424946.1:c.3521A>C, NM_001367394.1:c.3509A>C, XM_047424947.1:c.3506A>C, XM_047424948.1:c.3494A>C, XM_047424949.1:c.3491A>C, NM_001367413.1:c.3248A>C, XM_047424950.1:c.3464A>C, XM_047424951.1:c.3458A>C, XM_047424952.1:c.3455A>C, NM_001367399.1:c.3236A>C, XM_047424957.1:c.3188A>C, XM_047424953.1:c.3428A>C, NM_001367415.1:c.3428A>C, XM_047424954.1:c.3422A>C, XM_047424955.1:c.3404A>C, NM_001367416.1:c.3368A>C, XM_047424956.1:c.3281A>C, XM_047424959.1:c.1877A>C, XP_011537872.1:p.Lys1198Thr, XP_011537875.1:p.Lys624Thr, NP_056077.2:p.Lys1235Thr, XP_011537870.1:p.Lys1227Thr, XP_016871503.1:p.Lys1215Thr, XP_011537871.1:p.Lys1205Thr, XP_016871506.1:p.Lys1203Thr, NP_001317003.1:p.Lys1256Thr, NP_001162577.1:p.Lys1194Thr, NP_001162578.1:p.Lys1160Thr, NP_001354341.1:p.Lys1063Thr, NP_001354324.1:p.Lys1277Thr, NP_001354334.1:p.Lys1042Thr, NP_001354336.1:p.Lys1042Thr, NP_001354327.1:p.Lys1039Thr, NP_001354343.1:p.Lys1042Thr, NP_001354322.1:p.Lys1233Thr, NP_001354340.1:p.Lys1169Thr, NP_001354331.1:p.Lys1042Thr, NP_001354332.1:p.Lys1232Thr, NP_001354338.1:p.Lys1148Thr, NP_001354339.1:p.Lys1147Thr, NP_001354329.1:p.Lys1211Thr, NP_001354330.1:p.Lys1206Thr, NP_001354333.1:p.Lys1203Thr, NP_001354335.1:p.Lys626Thr, XP_047280897.1:p.Lys1191Thr, XP_047280898.1:p.Lys1186Thr, NP_001354337.1:p.Lys1184Thr, XP_047280899.1:p.Lys1182Thr, NP_001354325.1:p.Lys1181Thr, NP_001354326.1:p.Lys1180Thr, XP_047280900.1:p.Lys1177Thr, XP_047280901.1:p.Lys1176Thr, XP_047280902.1:p.Lys1174Thr, NP_001354323.1:p.Lys1170Thr, XP_047280903.1:p.Lys1169Thr, XP_047280904.1:p.Lys1165Thr, XP_047280905.1:p.Lys1164Thr, NP_001354342.1:p.Lys1083Thr, XP_047280906.1:p.Lys1155Thr, XP_047280907.1:p.Lys1153Thr, XP_047280908.1:p.Lys1152Thr, NP_001354328.1:p.Lys1079Thr, XP_047280913.1:p.Lys1063Thr, XP_047280909.1:p.Lys1143Thr, NP_001354344.1:p.Lys1143Thr, XP_047280910.1:p.Lys1141Thr, XP_047280911.1:p.Lys1135Thr, NP_001354345.1:p.Lys1123Thr, XP_047280912.1:p.Lys1094Thr, XP_047280915.1:p.Lys626Thr

                    10.

                    rs1482198696 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:45789370 (GRCh38)
                      10:46284818 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:45789369:C:T
                      Gene:
                      WASHC2C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000010.11:g.45789370C>T, NC_000010.10:g.46284818C>T, NW_003871068.1:g.60485C>T, XM_011539570.4:c.3413C>T, XM_011539570.3:c.3413C>T, XM_011539570.2:c.3413C>T, XM_011539570.1:c.3413C>T, XM_011539573.4:c.1691C>T, XM_011539573.3:c.1691C>T, XM_011539573.2:c.1691C>T, XM_011539573.1:c.1691C>T, NM_015262.3:c.3524C>T, NM_015262.2:c.3524C>T, XM_011539568.3:c.3500C>T, XM_011539568.2:c.3500C>T, XM_011539568.1:c.3500C>T, XM_017016014.3:c.3464C>T, XM_017016014.2:c.3464C>T, XM_017016014.1:c.3464C>T, XM_011539569.3:c.3434C>T, XM_011539569.2:c.3434C>T, XM_011539569.1:c.3434C>T, XM_017016017.3:c.3428C>T, XM_017016017.2:c.3428C>T, XM_017016017.1:c.3428C>T, NM_001330074.2:c.3587C>T, NM_001330074.1:c.3587C>T, NM_001169106.2:c.3401C>T, NM_001169106.1:c.3401C>T, NM_001169107.2:c.3299C>T, NM_001169107.1:c.3299C>T, NR_159966.1:n.3982C>T, NM_001367412.1:c.3008C>T, NM_001367395.1:c.3650C>T, NM_001367405.1:c.2945C>T, NM_001367407.1:c.2945C>T, NM_001367398.1:c.2936C>T, NM_001367414.1:c.2945C>T, NM_001367393.1:c.3518C>T, NM_001367411.1:c.3326C>T, NM_001367402.1:c.2945C>T, NM_001367403.1:c.3515C>T, NM_001367409.1:c.3263C>T, NM_001367410.1:c.3260C>T, NM_001367400.1:c.3452C>T, NM_001367401.1:c.3437C>T, NM_001367404.1:c.3428C>T, NM_001367406.1:c.1697C>T, XM_047424941.1:c.3392C>T, XM_047424942.1:c.3377C>T, NM_001367408.1:c.3371C>T, XM_047424943.1:c.3365C>T, NM_001367396.1:c.3362C>T, NM_001367397.1:c.3359C>T, XM_047424944.1:c.3350C>T, XM_047424945.1:c.3347C>T, XM_047424946.1:c.3341C>T, NM_001367394.1:c.3329C>T, XM_047424947.1:c.3326C>T, XM_047424948.1:c.3314C>T, XM_047424949.1:c.3311C>T, NM_001367413.1:c.3068C>T, XM_047424950.1:c.3284C>T, XM_047424951.1:c.3278C>T, XM_047424952.1:c.3275C>T, NM_001367399.1:c.3056C>T, XM_047424957.1:c.3008C>T, XM_047424953.1:c.3248C>T, NM_001367415.1:c.3248C>T, XM_047424954.1:c.3242C>T, XM_047424955.1:c.3224C>T, NM_001367416.1:c.3188C>T, XM_047424956.1:c.3101C>T, XM_047424959.1:c.1697C>T, XP_011537872.1:p.Thr1138Ile, XP_011537875.1:p.Thr564Ile, NP_056077.2:p.Thr1175Ile, XP_011537870.1:p.Thr1167Ile, XP_016871503.1:p.Thr1155Ile, XP_011537871.1:p.Thr1145Ile, XP_016871506.1:p.Thr1143Ile, NP_001317003.1:p.Thr1196Ile, NP_001162577.1:p.Thr1134Ile, NP_001162578.1:p.Thr1100Ile, NP_001354341.1:p.Thr1003Ile, NP_001354324.1:p.Thr1217Ile, NP_001354334.1:p.Thr982Ile, NP_001354336.1:p.Thr982Ile, NP_001354327.1:p.Thr979Ile, NP_001354343.1:p.Thr982Ile, NP_001354322.1:p.Thr1173Ile, NP_001354340.1:p.Thr1109Ile, NP_001354331.1:p.Thr982Ile, NP_001354332.1:p.Thr1172Ile, NP_001354338.1:p.Thr1088Ile, NP_001354339.1:p.Thr1087Ile, NP_001354329.1:p.Thr1151Ile, NP_001354330.1:p.Thr1146Ile, NP_001354333.1:p.Thr1143Ile, NP_001354335.1:p.Thr566Ile, XP_047280897.1:p.Thr1131Ile, XP_047280898.1:p.Thr1126Ile, NP_001354337.1:p.Thr1124Ile, XP_047280899.1:p.Thr1122Ile, NP_001354325.1:p.Thr1121Ile, NP_001354326.1:p.Thr1120Ile, XP_047280900.1:p.Thr1117Ile, XP_047280901.1:p.Thr1116Ile, XP_047280902.1:p.Thr1114Ile, NP_001354323.1:p.Thr1110Ile, XP_047280903.1:p.Thr1109Ile, XP_047280904.1:p.Thr1105Ile, XP_047280905.1:p.Thr1104Ile, NP_001354342.1:p.Thr1023Ile, XP_047280906.1:p.Thr1095Ile, XP_047280907.1:p.Thr1093Ile, XP_047280908.1:p.Thr1092Ile, NP_001354328.1:p.Thr1019Ile, XP_047280913.1:p.Thr1003Ile, XP_047280909.1:p.Thr1083Ile, NP_001354344.1:p.Thr1083Ile, XP_047280910.1:p.Thr1081Ile, XP_047280911.1:p.Thr1075Ile, NP_001354345.1:p.Thr1063Ile, XP_047280912.1:p.Thr1034Ile, XP_047280915.1:p.Thr566Ile

                      11.

                      rs1481674201 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:45789054 (GRCh38)
                        10:46284502 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:45789053:A:G
                        Gene:
                        WASHC2C (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.45789054A>G, NC_000010.10:g.46284502A>G, NW_003871068.1:g.60169A>G, XM_011539570.4:c.3097A>G, XM_011539570.3:c.3097A>G, XM_011539570.2:c.3097A>G, XM_011539570.1:c.3097A>G, XM_011539573.4:c.1375A>G, XM_011539573.3:c.1375A>G, XM_011539573.2:c.1375A>G, XM_011539573.1:c.1375A>G, NM_015262.3:c.3208A>G, NM_015262.2:c.3208A>G, XM_011539568.3:c.3184A>G, XM_011539568.2:c.3184A>G, XM_011539568.1:c.3184A>G, XM_017016014.3:c.3148A>G, XM_017016014.2:c.3148A>G, XM_017016014.1:c.3148A>G, XM_011539569.3:c.3118A>G, XM_011539569.2:c.3118A>G, XM_011539569.1:c.3118A>G, XM_017016017.3:c.3112A>G, XM_017016017.2:c.3112A>G, XM_017016017.1:c.3112A>G, NM_001330074.2:c.3271A>G, NM_001330074.1:c.3271A>G, NM_001169106.2:c.3085A>G, NM_001169106.1:c.3085A>G, NM_001169107.2:c.2983A>G, NM_001169107.1:c.2983A>G, NR_159966.1:n.3666A>G, NM_001367412.1:c.2692A>G, NM_001367395.1:c.3334A>G, NM_001367405.1:c.2629A>G, NM_001367407.1:c.2629A>G, NM_001367398.1:c.2620A>G, NM_001367414.1:c.2629A>G, NM_001367393.1:c.3202A>G, NM_001367411.1:c.3010A>G, NM_001367402.1:c.2629A>G, NM_001367403.1:c.3199A>G, NM_001367409.1:c.2947A>G, NM_001367410.1:c.2944A>G, NM_001367400.1:c.3136A>G, NM_001367401.1:c.3121A>G, NM_001367404.1:c.3112A>G, NM_001367406.1:c.1381A>G, XM_047424941.1:c.3076A>G, XM_047424942.1:c.3061A>G, NM_001367408.1:c.3055A>G, XM_047424943.1:c.3049A>G, NM_001367396.1:c.3046A>G, XM_047424944.1:c.3034A>G, XM_047424945.1:c.3031A>G, XM_047424946.1:c.3025A>G, NM_001367394.1:c.3013A>G, XM_047424947.1:c.3010A>G, XM_047424948.1:c.2998A>G, XM_047424949.1:c.2995A>G, NM_001367413.1:c.2752A>G, XM_047424950.1:c.2968A>G, XM_047424951.1:c.2962A>G, XM_047424952.1:c.2959A>G, NM_001367399.1:c.2740A>G, XM_047424957.1:c.2692A>G, XM_047424953.1:c.2932A>G, NM_001367415.1:c.2932A>G, XM_047424954.1:c.2926A>G, XM_047424955.1:c.2908A>G, NM_001367416.1:c.2872A>G, XM_047424956.1:c.2785A>G, XM_047424959.1:c.1381A>G, XP_011537872.1:p.Ser1033Gly, XP_011537875.1:p.Ser459Gly, NP_056077.2:p.Ser1070Gly, XP_011537870.1:p.Ser1062Gly, XP_016871503.1:p.Ser1050Gly, XP_011537871.1:p.Ser1040Gly, XP_016871506.1:p.Ser1038Gly, NP_001317003.1:p.Ser1091Gly, NP_001162577.1:p.Ser1029Gly, NP_001162578.1:p.Ser995Gly, NP_001354341.1:p.Ser898Gly, NP_001354324.1:p.Ser1112Gly, NP_001354334.1:p.Ser877Gly, NP_001354336.1:p.Ser877Gly, NP_001354327.1:p.Ser874Gly, NP_001354343.1:p.Ser877Gly, NP_001354322.1:p.Ser1068Gly, NP_001354340.1:p.Ser1004Gly, NP_001354331.1:p.Ser877Gly, NP_001354332.1:p.Ser1067Gly, NP_001354338.1:p.Ser983Gly, NP_001354339.1:p.Ser982Gly, NP_001354329.1:p.Ser1046Gly, NP_001354330.1:p.Ser1041Gly, NP_001354333.1:p.Ser1038Gly, NP_001354335.1:p.Ser461Gly, XP_047280897.1:p.Ser1026Gly, XP_047280898.1:p.Ser1021Gly, NP_001354337.1:p.Ser1019Gly, XP_047280899.1:p.Ser1017Gly, NP_001354325.1:p.Ser1016Gly, XP_047280900.1:p.Ser1012Gly, XP_047280901.1:p.Ser1011Gly, XP_047280902.1:p.Ser1009Gly, NP_001354323.1:p.Ser1005Gly, XP_047280903.1:p.Ser1004Gly, XP_047280904.1:p.Ser1000Gly, XP_047280905.1:p.Ser999Gly, NP_001354342.1:p.Ser918Gly, XP_047280906.1:p.Ser990Gly, XP_047280907.1:p.Ser988Gly, XP_047280908.1:p.Ser987Gly, NP_001354328.1:p.Ser914Gly, XP_047280913.1:p.Ser898Gly, XP_047280909.1:p.Ser978Gly, NP_001354344.1:p.Ser978Gly, XP_047280910.1:p.Ser976Gly, XP_047280911.1:p.Ser970Gly, NP_001354345.1:p.Ser958Gly, XP_047280912.1:p.Ser929Gly, XP_047280915.1:p.Ser461Gly

                        12.

                        rs1481004902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:45750784 (GRCh38)
                          10:46246232 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:45750783:C:T
                          Gene:
                          WASHC2C (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000010.11:g.45750784C>T, NC_000010.10:g.46246232C>T, NW_003871068.1:g.21899C>T, XM_011539570.4:c.703C>T, XM_011539570.3:c.703C>T, XM_011539570.2:c.703C>T, XM_011539570.1:c.703C>T, NM_015262.3:c.877C>T, NM_015262.2:c.877C>T, XM_011539568.3:c.877C>T, XM_011539568.2:c.877C>T, XM_011539568.1:c.877C>T, XM_017016014.3:c.877C>T, XM_017016014.2:c.877C>T, XM_017016014.1:c.877C>T, XM_011539569.3:c.877C>T, XM_011539569.2:c.877C>T, XM_011539569.1:c.877C>T, XM_017016017.3:c.877C>T, XM_017016017.2:c.877C>T, XM_017016017.1:c.877C>T, XM_011539572.3:c.877C>T, XM_011539572.2:c.877C>T, XM_011539572.1:c.877C>T, NM_001330074.2:c.877C>T, NM_001330074.1:c.877C>T, NM_001169106.2:c.877C>T, NM_001169106.1:c.877C>T, NM_001169107.2:c.877C>T, NM_001169107.1:c.877C>T, NR_159966.1:n.1139C>T, NM_001367412.1:c.298C>T, NM_001367395.1:c.877C>T, NM_001367405.1:c.298C>T, NM_001367407.1:c.298C>T, NM_001367398.1:c.298C>T, NM_001367414.1:c.298C>T, NM_001367393.1:c.871C>T, NM_001367411.1:c.616C>T, NM_001367402.1:c.298C>T, NM_001367403.1:c.877C>T, NM_001367409.1:c.616C>T, NM_001367410.1:c.613C>T, NM_001367400.1:c.877C>T, NM_001367401.1:c.877C>T, NM_001367404.1:c.718C>T, NM_001367406.1:c.-844C>T, XM_047424941.1:c.877C>T, XM_047424942.1:c.877C>T, NM_001367408.1:c.877C>T, XM_047424943.1:c.877C>T, NM_001367396.1:c.877C>T, NM_001367397.1:c.877C>T, XM_047424944.1:c.703C>T, XM_047424945.1:c.877C>T, XM_047424946.1:c.703C>T, NM_001367394.1:c.877C>T, XM_047424947.1:c.703C>T, XM_047424948.1:c.877C>T, XM_047424949.1:c.877C>T, NM_001367413.1:c.616C>T, XM_047424950.1:c.877C>T, XM_047424951.1:c.703C>T, XM_047424952.1:c.877C>T, NM_001367399.1:c.613C>T, XM_047424957.1:c.298C>T, XM_047424953.1:c.877C>T, NM_001367415.1:c.877C>T, XM_047424954.1:c.877C>T, XM_047424955.1:c.877C>T, NM_001367416.1:c.877C>T, XM_047424956.1:c.877C>T

                          13.

                          rs1480426255 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:45777339 (GRCh38)
                            10:46272787 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:45777338:C:T
                            Gene:
                            WASHC2C (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000010.11:g.45777339C>T, NC_000010.10:g.46272787C>T, NW_003871068.1:g.48454C>T, XM_011539570.4:c.2035C>T, XM_011539570.3:c.2035C>T, XM_011539570.2:c.2035C>T, XM_011539570.1:c.2035C>T, XM_011539573.4:c.313C>T, XM_011539573.3:c.313C>T, XM_011539573.2:c.313C>T, XM_011539573.1:c.313C>T, NM_015262.3:c.2209C>T, NM_015262.2:c.2209C>T, XM_011539568.3:c.2122C>T, XM_011539568.2:c.2122C>T, XM_011539568.1:c.2122C>T, XM_017016014.3:c.2209C>T, XM_017016014.2:c.2209C>T, XM_017016014.1:c.2209C>T, XM_017016017.3:c.2050C>T, XM_017016017.2:c.2050C>T, XM_017016017.1:c.2050C>T, NM_001330074.2:c.2209C>T, NM_001330074.1:c.2209C>T, NM_001169106.2:c.2209C>T, NM_001169106.1:c.2209C>T, NR_159966.1:n.2667C>T, NM_001367412.1:c.1630C>T, NM_001367395.1:c.2272C>T, NM_001367405.1:c.1630C>T, NM_001367407.1:c.1630C>T, NM_001367398.1:c.1558C>T, NM_001367414.1:c.1630C>T, NM_001367393.1:c.2203C>T, NM_001367411.1:c.1948C>T, NM_001367402.1:c.1630C>T, NM_001367403.1:c.2137C>T, NM_001367409.1:c.1948C>T, NM_001367410.1:c.1945C>T, NM_001367400.1:c.2137C>T, NM_001367401.1:c.2122C>T, NM_001367404.1:c.2050C>T, NM_001367406.1:c.319C>T, XM_047424941.1:c.2137C>T, XM_047424942.1:c.2122C>T, XM_047424943.1:c.2050C>T, NM_001367397.1:c.2209C>T, XM_047424944.1:c.2035C>T, XM_047424946.1:c.1963C>T, NM_001367394.1:c.2137C>T, XM_047424947.1:c.1948C>T, XM_047424948.1:c.2122C>T, NM_001367413.1:c.1876C>T, XM_047424951.1:c.1963C>T, NM_001367399.1:c.1945C>T, XM_047424957.1:c.1630C>T, NM_001367415.1:c.2137C>T, XM_047424954.1:c.2050C>T, NM_001367416.1:c.2209C>T, XM_047424956.1:c.2122C>T, XM_047424959.1:c.319C>T, XP_011537872.1:p.Leu679Phe, XP_011537875.1:p.Leu105Phe, NP_056077.2:p.Leu737Phe, XP_011537870.1:p.Leu708Phe, XP_016871503.1:p.Leu737Phe, XP_016871506.1:p.Leu684Phe, NP_001317003.1:p.Leu737Phe, NP_001162577.1:p.Leu737Phe, NP_001354341.1:p.Leu544Phe, NP_001354324.1:p.Leu758Phe, NP_001354334.1:p.Leu544Phe, NP_001354336.1:p.Leu544Phe, NP_001354327.1:p.Leu520Phe, NP_001354343.1:p.Leu544Phe, NP_001354322.1:p.Leu735Phe, NP_001354340.1:p.Leu650Phe, NP_001354331.1:p.Leu544Phe, NP_001354332.1:p.Leu713Phe, NP_001354338.1:p.Leu650Phe, NP_001354339.1:p.Leu649Phe, NP_001354329.1:p.Leu713Phe, NP_001354330.1:p.Leu708Phe, NP_001354333.1:p.Leu684Phe, NP_001354335.1:p.Leu107Phe, XP_047280897.1:p.Leu713Phe, XP_047280898.1:p.Leu708Phe, XP_047280899.1:p.Leu684Phe, NP_001354326.1:p.Leu737Phe, XP_047280900.1:p.Leu679Phe, XP_047280902.1:p.Leu655Phe, NP_001354323.1:p.Leu713Phe, XP_047280903.1:p.Leu650Phe, XP_047280904.1:p.Leu708Phe, NP_001354342.1:p.Leu626Phe, XP_047280907.1:p.Leu655Phe, NP_001354328.1:p.Leu649Phe, XP_047280913.1:p.Leu544Phe, NP_001354344.1:p.Leu713Phe, XP_047280910.1:p.Leu684Phe, NP_001354345.1:p.Leu737Phe, XP_047280912.1:p.Leu708Phe, XP_047280915.1:p.Leu107Phe

                            14.

                            rs1480149950 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              10:45773355 (GRCh38)
                              10:46268803 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:45773354:A:C
                              Gene:
                              WASHC2C (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00014/4 (TOMMO)
                              HGVS:
                              NC_000010.11:g.45773355A>C, NC_000010.10:g.46268803A>C, NW_003871068.1:g.44470A>C, XM_011539570.4:c.1965A>C, XM_011539570.3:c.1965A>C, XM_011539570.2:c.1965A>C, XM_011539570.1:c.1965A>C, XM_011539573.4:c.243A>C, XM_011539573.3:c.243A>C, XM_011539573.2:c.243A>C, XM_011539573.1:c.243A>C, NM_015262.3:c.2139A>C, NM_015262.2:c.2139A>C, XM_011539568.3:c.2052A>C, XM_011539568.2:c.2052A>C, XM_011539568.1:c.2052A>C, XM_017016014.3:c.2139A>C, XM_017016014.2:c.2139A>C, XM_017016014.1:c.2139A>C, XM_011539569.3:c.2139A>C, XM_011539569.2:c.2139A>C, XM_011539569.1:c.2139A>C, XM_017016017.3:c.1980A>C, XM_017016017.2:c.1980A>C, XM_017016017.1:c.1980A>C, XM_011539572.3:c.*64A>C, XM_011539572.2:c.*64A>C, XM_011539572.1:c.*64A>C, NM_001330074.2:c.2139A>C, NM_001330074.1:c.2139A>C, NM_001169106.2:c.2139A>C, NM_001169106.1:c.2139A>C, NM_001169107.2:c.2067A>C, NM_001169107.1:c.2067A>C, NR_159966.1:n.2597A>C, NM_001367412.1:c.1560A>C, NM_001367395.1:c.2202A>C, NM_001367405.1:c.1560A>C, NM_001367407.1:c.1560A>C, NM_001367398.1:c.1488A>C, NM_001367414.1:c.1560A>C, NM_001367393.1:c.2133A>C, NM_001367411.1:c.1878A>C, NM_001367402.1:c.1560A>C, NM_001367403.1:c.2067A>C, NM_001367409.1:c.1878A>C, NM_001367410.1:c.1875A>C, NM_001367400.1:c.2067A>C, NM_001367401.1:c.2052A>C, NM_001367404.1:c.1980A>C, NM_001367406.1:c.249A>C, XM_047424941.1:c.2067A>C, XM_047424942.1:c.2052A>C, NM_001367408.1:c.2139A>C, XM_047424943.1:c.1980A>C, NM_001367396.1:c.2067A>C, NM_001367397.1:c.2139A>C, XM_047424944.1:c.1965A>C, XM_047424945.1:c.2052A>C, XM_047424946.1:c.1893A>C, NM_001367394.1:c.2067A>C, XM_047424947.1:c.1878A>C, XM_047424948.1:c.2052A>C, XM_047424949.1:c.2139A>C, NM_001367413.1:c.1806A>C, XM_047424950.1:c.2052A>C, XM_047424951.1:c.1893A>C, XM_047424952.1:c.1980A>C, NM_001367399.1:c.1875A>C, XM_047424957.1:c.1560A>C, XM_047424953.1:c.2139A>C, NM_001367415.1:c.2067A>C, XM_047424954.1:c.1980A>C, XM_047424955.1:c.2052A>C, NM_001367416.1:c.2139A>C, XM_047424956.1:c.2052A>C, XM_047424959.1:c.249A>C

                              15.

                              rs1479663122 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:45787132 (GRCh38)
                                10:46282580 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:45787131:C:T
                                Gene:
                                WASHC2C (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/1 (GnomAD_exomes)
                                T=0.000008/2 (TOPMED)
                                T=0.000036/5 (GnomAD)
                                HGVS:
                                NC_000010.11:g.45787132C>T, NC_000010.10:g.46282580C>T, NW_003871068.1:g.58247C>T, XM_011539570.4:c.2798C>T, XM_011539570.3:c.2798C>T, XM_011539570.2:c.2798C>T, XM_011539570.1:c.2798C>T, XM_011539573.4:c.1076C>T, XM_011539573.3:c.1076C>T, XM_011539573.2:c.1076C>T, XM_011539573.1:c.1076C>T, NM_015262.3:c.2909C>T, NM_015262.2:c.2909C>T, XM_011539568.3:c.2885C>T, XM_011539568.2:c.2885C>T, XM_011539568.1:c.2885C>T, XM_017016014.3:c.2849C>T, XM_017016014.2:c.2849C>T, XM_017016014.1:c.2849C>T, XM_011539569.3:c.2819C>T, XM_011539569.2:c.2819C>T, XM_011539569.1:c.2819C>T, XM_017016017.3:c.2813C>T, XM_017016017.2:c.2813C>T, XM_017016017.1:c.2813C>T, NM_001330074.2:c.2972C>T, NM_001330074.1:c.2972C>T, NM_001169106.2:c.2786C>T, NM_001169106.1:c.2786C>T, NM_001169107.2:c.2684C>T, NM_001169107.1:c.2684C>T, NR_159966.1:n.3367C>T, NM_001367412.1:c.2393C>T, NM_001367395.1:c.3035C>T, NM_001367405.1:c.2330C>T, NM_001367407.1:c.2330C>T, NM_001367398.1:c.2321C>T, NM_001367414.1:c.2330C>T, NM_001367393.1:c.2903C>T, NM_001367411.1:c.2711C>T, NM_001367402.1:c.2330C>T, NM_001367403.1:c.2900C>T, NM_001367409.1:c.2648C>T, NM_001367410.1:c.2645C>T, NM_001367400.1:c.2837C>T, NM_001367401.1:c.2822C>T, NM_001367404.1:c.2813C>T, NM_001367406.1:c.1082C>T, XM_047424941.1:c.2777C>T, XM_047424942.1:c.2762C>T, NM_001367408.1:c.2756C>T, XM_047424943.1:c.2750C>T, NM_001367396.1:c.2747C>T, NM_001367397.1:c.2972C>T, XM_047424944.1:c.2735C>T, XM_047424945.1:c.2732C>T, XM_047424946.1:c.2726C>T, NM_001367394.1:c.2714C>T, XM_047424947.1:c.2711C>T, XM_047424948.1:c.2699C>T, XM_047424949.1:c.2696C>T, NM_001367413.1:c.2453C>T, XM_047424950.1:c.2669C>T, XM_047424951.1:c.2663C>T, XM_047424952.1:c.2660C>T, NM_001367399.1:c.2441C>T, XM_047424957.1:c.2393C>T, XM_047424953.1:c.2633C>T, NM_001367415.1:c.2633C>T, XM_047424954.1:c.2627C>T, XM_047424955.1:c.2609C>T, XM_047424959.1:c.1082C>T, XP_011537872.1:p.Ser933Phe, XP_011537875.1:p.Ser359Phe, NP_056077.2:p.Ser970Phe, XP_011537870.1:p.Ser962Phe, XP_016871503.1:p.Ser950Phe, XP_011537871.1:p.Ser940Phe, XP_016871506.1:p.Ser938Phe, NP_001317003.1:p.Ser991Phe, NP_001162577.1:p.Ser929Phe, NP_001162578.1:p.Ser895Phe, NP_001354341.1:p.Ser798Phe, NP_001354324.1:p.Ser1012Phe, NP_001354334.1:p.Ser777Phe, NP_001354336.1:p.Ser777Phe, NP_001354327.1:p.Ser774Phe, NP_001354343.1:p.Ser777Phe, NP_001354322.1:p.Ser968Phe, NP_001354340.1:p.Ser904Phe, NP_001354331.1:p.Ser777Phe, NP_001354332.1:p.Ser967Phe, NP_001354338.1:p.Ser883Phe, NP_001354339.1:p.Ser882Phe, NP_001354329.1:p.Ser946Phe, NP_001354330.1:p.Ser941Phe, NP_001354333.1:p.Ser938Phe, NP_001354335.1:p.Ser361Phe, XP_047280897.1:p.Ser926Phe, XP_047280898.1:p.Ser921Phe, NP_001354337.1:p.Ser919Phe, XP_047280899.1:p.Ser917Phe, NP_001354325.1:p.Ser916Phe, NP_001354326.1:p.Ser991Phe, XP_047280900.1:p.Ser912Phe, XP_047280901.1:p.Ser911Phe, XP_047280902.1:p.Ser909Phe, NP_001354323.1:p.Ser905Phe, XP_047280903.1:p.Ser904Phe, XP_047280904.1:p.Ser900Phe, XP_047280905.1:p.Ser899Phe, NP_001354342.1:p.Ser818Phe, XP_047280906.1:p.Ser890Phe, XP_047280907.1:p.Ser888Phe, XP_047280908.1:p.Ser887Phe, NP_001354328.1:p.Ser814Phe, XP_047280913.1:p.Ser798Phe, XP_047280909.1:p.Ser878Phe, NP_001354344.1:p.Ser878Phe, XP_047280910.1:p.Ser876Phe, XP_047280911.1:p.Ser870Phe, XP_047280915.1:p.Ser361Phe

                                16.

                                rs1478462413 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  10:45765806 (GRCh38)
                                  10:46261254 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:45765805:A:C
                                  Gene:
                                  WASHC2C (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_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)
                                  HGVS:
                                  NC_000010.11:g.45765806A>C, NC_000010.10:g.46261254A>C, NW_003871068.1:g.36921A>C, XM_011539570.4:c.1691A>C, XM_011539570.3:c.1691A>C, XM_011539570.2:c.1691A>C, XM_011539570.1:c.1691A>C, NM_015262.3:c.1865A>C, NM_015262.2:c.1865A>C, XM_011539568.3:c.1778A>C, XM_011539568.2:c.1778A>C, XM_011539568.1:c.1778A>C, XM_017016014.3:c.1865A>C, XM_017016014.2:c.1865A>C, XM_017016014.1:c.1865A>C, XM_011539569.3:c.1865A>C, XM_011539569.2:c.1865A>C, XM_011539569.1:c.1865A>C, XM_017016017.3:c.1706A>C, XM_017016017.2:c.1706A>C, XM_017016017.1:c.1706A>C, XM_011539572.3:c.1865A>C, XM_011539572.2:c.1865A>C, XM_011539572.1:c.1865A>C, NM_001330074.2:c.1865A>C, NM_001330074.1:c.1865A>C, NM_001169106.2:c.1865A>C, NM_001169106.1:c.1865A>C, NM_001169107.2:c.1793A>C, NM_001169107.1:c.1793A>C, NR_159966.1:n.2323A>C, NM_001367412.1:c.1286A>C, NM_001367395.1:c.1793A>C, NM_001367405.1:c.1286A>C, NM_001367407.1:c.1286A>C, NM_001367398.1:c.1214A>C, NM_001367414.1:c.1286A>C, NM_001367393.1:c.1859A>C, NM_001367411.1:c.1604A>C, NM_001367402.1:c.1286A>C, NM_001367403.1:c.1793A>C, NM_001367409.1:c.1604A>C, NM_001367410.1:c.1601A>C, NM_001367400.1:c.1793A>C, NM_001367401.1:c.1778A>C, NM_001367404.1:c.1706A>C, NM_001367406.1:c.145A>C, XM_047424941.1:c.1793A>C, XM_047424942.1:c.1778A>C, NM_001367408.1:c.1865A>C, XM_047424943.1:c.1706A>C, NM_001367396.1:c.1793A>C, NM_001367397.1:c.1865A>C, XM_047424944.1:c.1691A>C, XM_047424945.1:c.1778A>C, XM_047424946.1:c.1619A>C, NM_001367394.1:c.1793A>C, XM_047424947.1:c.1604A>C, XM_047424948.1:c.1778A>C, XM_047424949.1:c.1865A>C, NM_001367413.1:c.1532A>C, XM_047424950.1:c.1778A>C, XM_047424951.1:c.1619A>C, XM_047424952.1:c.1706A>C, NM_001367399.1:c.1601A>C, XM_047424957.1:c.1286A>C, XM_047424953.1:c.1865A>C, NM_001367415.1:c.1793A>C, XM_047424954.1:c.1706A>C, XM_047424955.1:c.1778A>C, NM_001367416.1:c.1865A>C, XM_047424956.1:c.1778A>C, XM_047424959.1:c.145A>C, XP_011537872.1:p.Glu564Ala, NP_056077.2:p.Glu622Ala, XP_011537870.1:p.Glu593Ala, XP_016871503.1:p.Glu622Ala, XP_011537871.1:p.Glu622Ala, XP_016871506.1:p.Glu569Ala, XP_011537874.1:p.Glu622Ala, NP_001317003.1:p.Glu622Ala, NP_001162577.1:p.Glu622Ala, NP_001162578.1:p.Glu598Ala, NP_001354341.1:p.Glu429Ala, NP_001354324.1:p.Glu598Ala, NP_001354334.1:p.Glu429Ala, NP_001354336.1:p.Glu429Ala, NP_001354327.1:p.Glu405Ala, NP_001354343.1:p.Glu429Ala, NP_001354322.1:p.Glu620Ala, NP_001354340.1:p.Glu535Ala, NP_001354331.1:p.Glu429Ala, NP_001354332.1:p.Glu598Ala, NP_001354338.1:p.Glu535Ala, NP_001354339.1:p.Glu534Ala, NP_001354329.1:p.Glu598Ala, NP_001354330.1:p.Glu593Ala, NP_001354333.1:p.Glu569Ala, XP_047280897.1:p.Glu598Ala, XP_047280898.1:p.Glu593Ala, NP_001354337.1:p.Glu622Ala, XP_047280899.1:p.Glu569Ala, NP_001354325.1:p.Glu598Ala, NP_001354326.1:p.Glu622Ala, XP_047280900.1:p.Glu564Ala, XP_047280901.1:p.Glu593Ala, XP_047280902.1:p.Glu540Ala, NP_001354323.1:p.Glu598Ala, XP_047280903.1:p.Glu535Ala, XP_047280904.1:p.Glu593Ala, XP_047280905.1:p.Glu622Ala, NP_001354342.1:p.Glu511Ala, XP_047280906.1:p.Glu593Ala, XP_047280907.1:p.Glu540Ala, XP_047280908.1:p.Glu569Ala, NP_001354328.1:p.Glu534Ala, XP_047280913.1:p.Glu429Ala, XP_047280909.1:p.Glu622Ala, NP_001354344.1:p.Glu598Ala, XP_047280910.1:p.Glu569Ala, XP_047280911.1:p.Glu593Ala, NP_001354345.1:p.Glu622Ala, XP_047280912.1:p.Glu593Ala

                                  17.

                                  rs1477752967 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C,G [Show Flanks]
                                    Chromosome:
                                    10:45787217 (GRCh38)
                                    10:46282665 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:45787216:T:A,NC_000010.11:45787216:T:C,NC_000010.11:45787216:T:G
                                    Gene:
                                    WASHC2C (Varview)
                                    Functional Consequence:
                                    intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.45787217T>A, NC_000010.11:g.45787217T>C, NC_000010.11:g.45787217T>G, NC_000010.10:g.46282665T>A, NC_000010.10:g.46282665T>C, NC_000010.10:g.46282665T>G, NW_003871068.1:g.58332T>A, NW_003871068.1:g.58332T>C, NW_003871068.1:g.58332T>G, XM_011539570.4:c.2883T>A, XM_011539570.4:c.2883T>C, XM_011539570.4:c.2883T>G, XM_011539570.3:c.2883T>A, XM_011539570.3:c.2883T>C, XM_011539570.3:c.2883T>G, XM_011539570.2:c.2883T>A, XM_011539570.2:c.2883T>C, XM_011539570.2:c.2883T>G, XM_011539570.1:c.2883T>A, XM_011539570.1:c.2883T>C, XM_011539570.1:c.2883T>G, XM_011539573.4:c.1161T>A, XM_011539573.4:c.1161T>C, XM_011539573.4:c.1161T>G, XM_011539573.3:c.1161T>A, XM_011539573.3:c.1161T>C, XM_011539573.3:c.1161T>G, XM_011539573.2:c.1161T>A, XM_011539573.2:c.1161T>C, XM_011539573.2:c.1161T>G, XM_011539573.1:c.1161T>A, XM_011539573.1:c.1161T>C, XM_011539573.1:c.1161T>G, NM_015262.3:c.2994T>A, NM_015262.3:c.2994T>C, NM_015262.3:c.2994T>G, NM_015262.2:c.2994T>A, NM_015262.2:c.2994T>C, NM_015262.2:c.2994T>G, XM_011539568.3:c.2970T>A, XM_011539568.3:c.2970T>C, XM_011539568.3:c.2970T>G, XM_011539568.2:c.2970T>A, XM_011539568.2:c.2970T>C, XM_011539568.2:c.2970T>G, XM_011539568.1:c.2970T>A, XM_011539568.1:c.2970T>C, XM_011539568.1:c.2970T>G, XM_017016014.3:c.2934T>A, XM_017016014.3:c.2934T>C, XM_017016014.3:c.2934T>G, XM_017016014.2:c.2934T>A, XM_017016014.2:c.2934T>C, XM_017016014.2:c.2934T>G, XM_017016014.1:c.2934T>A, XM_017016014.1:c.2934T>C, XM_017016014.1:c.2934T>G, XM_011539569.3:c.2904T>A, XM_011539569.3:c.2904T>C, XM_011539569.3:c.2904T>G, XM_011539569.2:c.2904T>A, XM_011539569.2:c.2904T>C, XM_011539569.2:c.2904T>G, XM_011539569.1:c.2904T>A, XM_011539569.1:c.2904T>C, XM_011539569.1:c.2904T>G, XM_017016017.3:c.2898T>A, XM_017016017.3:c.2898T>C, XM_017016017.3:c.2898T>G, XM_017016017.2:c.2898T>A, XM_017016017.2:c.2898T>C, XM_017016017.2:c.2898T>G, XM_017016017.1:c.2898T>A, XM_017016017.1:c.2898T>C, XM_017016017.1:c.2898T>G, NM_001330074.2:c.3057T>A, NM_001330074.2:c.3057T>C, NM_001330074.2:c.3057T>G, NM_001330074.1:c.3057T>A, NM_001330074.1:c.3057T>C, NM_001330074.1:c.3057T>G, NM_001169106.2:c.2871T>A, NM_001169106.2:c.2871T>C, NM_001169106.2:c.2871T>G, NM_001169106.1:c.2871T>A, NM_001169106.1:c.2871T>C, NM_001169106.1:c.2871T>G, NM_001169107.2:c.2769T>A, NM_001169107.2:c.2769T>C, NM_001169107.2:c.2769T>G, NM_001169107.1:c.2769T>A, NM_001169107.1:c.2769T>C, NM_001169107.1:c.2769T>G, NR_159966.1:n.3452T>A, NR_159966.1:n.3452T>C, NR_159966.1:n.3452T>G, NM_001367412.1:c.2478T>A, NM_001367412.1:c.2478T>C, NM_001367412.1:c.2478T>G, NM_001367395.1:c.3120T>A, NM_001367395.1:c.3120T>C, NM_001367395.1:c.3120T>G, NM_001367405.1:c.2415T>A, NM_001367405.1:c.2415T>C, NM_001367405.1:c.2415T>G, NM_001367407.1:c.2415T>A, NM_001367407.1:c.2415T>C, NM_001367407.1:c.2415T>G, NM_001367398.1:c.2406T>A, NM_001367398.1:c.2406T>C, NM_001367398.1:c.2406T>G, NM_001367414.1:c.2415T>A, NM_001367414.1:c.2415T>C, NM_001367414.1:c.2415T>G, NM_001367393.1:c.2988T>A, NM_001367393.1:c.2988T>C, NM_001367393.1:c.2988T>G, NM_001367411.1:c.2796T>A, NM_001367411.1:c.2796T>C, NM_001367411.1:c.2796T>G, NM_001367402.1:c.2415T>A, NM_001367402.1:c.2415T>C, NM_001367402.1:c.2415T>G, NM_001367403.1:c.2985T>A, NM_001367403.1:c.2985T>C, NM_001367403.1:c.2985T>G, NM_001367409.1:c.2733T>A, NM_001367409.1:c.2733T>C, NM_001367409.1:c.2733T>G, NM_001367410.1:c.2730T>A, NM_001367410.1:c.2730T>C, NM_001367410.1:c.2730T>G, NM_001367400.1:c.2922T>A, NM_001367400.1:c.2922T>C, NM_001367400.1:c.2922T>G, NM_001367401.1:c.2907T>A, NM_001367401.1:c.2907T>C, NM_001367401.1:c.2907T>G, NM_001367404.1:c.2898T>A, NM_001367404.1:c.2898T>C, NM_001367404.1:c.2898T>G, NM_001367406.1:c.1167T>A, NM_001367406.1:c.1167T>C, NM_001367406.1:c.1167T>G, XM_047424941.1:c.2862T>A, XM_047424941.1:c.2862T>C, XM_047424941.1:c.2862T>G, XM_047424942.1:c.2847T>A, XM_047424942.1:c.2847T>C, XM_047424942.1:c.2847T>G, NM_001367408.1:c.2841T>A, NM_001367408.1:c.2841T>C, NM_001367408.1:c.2841T>G, XM_047424943.1:c.2835T>A, XM_047424943.1:c.2835T>C, XM_047424943.1:c.2835T>G, NM_001367396.1:c.2832T>A, NM_001367396.1:c.2832T>C, NM_001367396.1:c.2832T>G, NM_001367397.1:c.3057T>A, NM_001367397.1:c.3057T>C, NM_001367397.1:c.3057T>G, XM_047424944.1:c.2820T>A, XM_047424944.1:c.2820T>C, XM_047424944.1:c.2820T>G, XM_047424945.1:c.2817T>A, XM_047424945.1:c.2817T>C, XM_047424945.1:c.2817T>G, XM_047424946.1:c.2811T>A, XM_047424946.1:c.2811T>C, XM_047424946.1:c.2811T>G, NM_001367394.1:c.2799T>A, NM_001367394.1:c.2799T>C, NM_001367394.1:c.2799T>G, XM_047424947.1:c.2796T>A, XM_047424947.1:c.2796T>C, XM_047424947.1:c.2796T>G, XM_047424948.1:c.2784T>A, XM_047424948.1:c.2784T>C, XM_047424948.1:c.2784T>G, XM_047424949.1:c.2781T>A, XM_047424949.1:c.2781T>C, XM_047424949.1:c.2781T>G, NM_001367413.1:c.2538T>A, NM_001367413.1:c.2538T>C, NM_001367413.1:c.2538T>G, XM_047424950.1:c.2754T>A, XM_047424950.1:c.2754T>C, XM_047424950.1:c.2754T>G, XM_047424951.1:c.2748T>A, XM_047424951.1:c.2748T>C, XM_047424951.1:c.2748T>G, XM_047424952.1:c.2745T>A, XM_047424952.1:c.2745T>C, XM_047424952.1:c.2745T>G, NM_001367399.1:c.2526T>A, NM_001367399.1:c.2526T>C, NM_001367399.1:c.2526T>G, XM_047424957.1:c.2478T>A, XM_047424957.1:c.2478T>C, XM_047424957.1:c.2478T>G, XM_047424953.1:c.2718T>A, XM_047424953.1:c.2718T>C, XM_047424953.1:c.2718T>G, NM_001367415.1:c.2718T>A, NM_001367415.1:c.2718T>C, NM_001367415.1:c.2718T>G, XM_047424954.1:c.2712T>A, XM_047424954.1:c.2712T>C, XM_047424954.1:c.2712T>G, XM_047424955.1:c.2694T>A, XM_047424955.1:c.2694T>C, XM_047424955.1:c.2694T>G, XM_047424959.1:c.1167T>A, XM_047424959.1:c.1167T>C, XM_047424959.1:c.1167T>G

                                    18.

                                    rs1477464266 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      10:45752620 (GRCh38)
                                      10:46248068 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:45752619:C:A,NC_000010.11:45752619:C:T
                                      Gene:
                                      WASHC2C (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000008/2 (GnomAD_exomes)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.45752620C>A, NC_000010.11:g.45752620C>T, NC_000010.10:g.46248068C>A, NC_000010.10:g.46248068C>T, NW_003871068.1:g.23735C>A, NW_003871068.1:g.23735C>T, XM_011539570.4:c.862C>A, XM_011539570.4:c.862C>T, XM_011539570.3:c.862C>A, XM_011539570.3:c.862C>T, XM_011539570.2:c.862C>A, XM_011539570.2:c.862C>T, XM_011539570.1:c.862C>A, XM_011539570.1:c.862C>T, NM_015262.3:c.1036C>A, NM_015262.3:c.1036C>T, NM_015262.2:c.1036C>A, NM_015262.2:c.1036C>T, XM_011539568.3:c.1036C>A, XM_011539568.3:c.1036C>T, XM_011539568.2:c.1036C>A, XM_011539568.2:c.1036C>T, XM_011539568.1:c.1036C>A, XM_011539568.1:c.1036C>T, XM_017016014.3:c.1036C>A, XM_017016014.3:c.1036C>T, XM_017016014.2:c.1036C>A, XM_017016014.2:c.1036C>T, XM_017016014.1:c.1036C>A, XM_017016014.1:c.1036C>T, XM_011539569.3:c.1036C>A, XM_011539569.3:c.1036C>T, XM_011539569.2:c.1036C>A, XM_011539569.2:c.1036C>T, XM_011539569.1:c.1036C>A, XM_011539569.1:c.1036C>T, XM_017016017.3:c.964C>A, XM_017016017.3:c.964C>T, XM_017016017.2:c.964C>A, XM_017016017.2:c.964C>T, XM_017016017.1:c.964C>A, XM_017016017.1:c.964C>T, XM_011539572.3:c.1036C>A, XM_011539572.3:c.1036C>T, XM_011539572.2:c.1036C>A, XM_011539572.2:c.1036C>T, XM_011539572.1:c.1036C>A, XM_011539572.1:c.1036C>T, NM_001330074.2:c.1036C>A, NM_001330074.2:c.1036C>T, NM_001330074.1:c.1036C>A, NM_001330074.1:c.1036C>T, NM_001169106.2:c.1036C>A, NM_001169106.2:c.1036C>T, NM_001169106.1:c.1036C>A, NM_001169106.1:c.1036C>T, NM_001169107.2:c.964C>A, NM_001169107.2:c.964C>T, NM_001169107.1:c.964C>A, NM_001169107.1:c.964C>T, NR_159966.1:n.1298C>A, NR_159966.1:n.1298C>T, NM_001367412.1:c.457C>A, NM_001367412.1:c.457C>T, NM_001367395.1:c.964C>A, NM_001367395.1:c.964C>T, NM_001367405.1:c.457C>A, NM_001367405.1:c.457C>T, NM_001367407.1:c.457C>A, NM_001367407.1:c.457C>T, NM_001367398.1:c.385C>A, NM_001367398.1:c.385C>T, NM_001367414.1:c.457C>A, NM_001367414.1:c.457C>T, NM_001367393.1:c.1030C>A, NM_001367393.1:c.1030C>T, NM_001367411.1:c.775C>A, NM_001367411.1:c.775C>T, NM_001367402.1:c.457C>A, NM_001367402.1:c.457C>T, NM_001367403.1:c.964C>A, NM_001367403.1:c.964C>T, NM_001367409.1:c.775C>A, NM_001367409.1:c.775C>T, NM_001367410.1:c.772C>A, NM_001367410.1:c.772C>T, NM_001367400.1:c.964C>A, NM_001367400.1:c.964C>T, NM_001367401.1:c.1036C>A, NM_001367401.1:c.1036C>T, NM_001367404.1:c.877C>A, NM_001367404.1:c.877C>T, NM_001367406.1:c.-685C>A, NM_001367406.1:c.-685C>T, XM_047424941.1:c.964C>A, XM_047424941.1:c.964C>T, XM_047424942.1:c.1036C>A, XM_047424942.1:c.1036C>T, NM_001367408.1:c.1036C>A, NM_001367408.1:c.1036C>T, XM_047424943.1:c.964C>A, XM_047424943.1:c.964C>T, NM_001367396.1:c.964C>A, NM_001367396.1:c.964C>T, NM_001367397.1:c.1036C>A, NM_001367397.1:c.1036C>T, XM_047424944.1:c.862C>A, XM_047424944.1:c.862C>T, XM_047424945.1:c.1036C>A, XM_047424945.1:c.1036C>T, XM_047424946.1:c.790C>A, XM_047424946.1:c.790C>T, NM_001367394.1:c.964C>A, NM_001367394.1:c.964C>T, XM_047424947.1:c.862C>A, XM_047424947.1:c.862C>T, XM_047424948.1:c.1036C>A, XM_047424948.1:c.1036C>T, XM_047424949.1:c.1036C>A, XM_047424949.1:c.1036C>T, NM_001367413.1:c.703C>A, NM_001367413.1:c.703C>T, XM_047424950.1:c.1036C>A, XM_047424950.1:c.1036C>T, XM_047424951.1:c.790C>A, XM_047424951.1:c.790C>T, XM_047424952.1:c.964C>A, XM_047424952.1:c.964C>T, NM_001367399.1:c.772C>A, NM_001367399.1:c.772C>T, XM_047424957.1:c.457C>A, XM_047424957.1:c.457C>T, XM_047424953.1:c.1036C>A, XM_047424953.1:c.1036C>T, NM_001367415.1:c.964C>A, NM_001367415.1:c.964C>T, XM_047424954.1:c.964C>A, XM_047424954.1:c.964C>T, XM_047424955.1:c.1036C>A, XM_047424955.1:c.1036C>T, NM_001367416.1:c.1036C>A, NM_001367416.1:c.1036C>T, XM_047424956.1:c.1036C>A, XM_047424956.1:c.1036C>T, XP_011537872.1:p.Leu288Met, NP_056077.2:p.Leu346Met, XP_011537870.1:p.Leu346Met, XP_016871503.1:p.Leu346Met, XP_011537871.1:p.Leu346Met, XP_016871506.1:p.Leu322Met, XP_011537874.1:p.Leu346Met, NP_001317003.1:p.Leu346Met, NP_001162577.1:p.Leu346Met, NP_001162578.1:p.Leu322Met, NP_001354341.1:p.Leu153Met, NP_001354324.1:p.Leu322Met, NP_001354334.1:p.Leu153Met, NP_001354336.1:p.Leu153Met, NP_001354327.1:p.Leu129Met, NP_001354343.1:p.Leu153Met, NP_001354322.1:p.Leu344Met, NP_001354340.1:p.Leu259Met, NP_001354331.1:p.Leu153Met, NP_001354332.1:p.Leu322Met, NP_001354338.1:p.Leu259Met, NP_001354339.1:p.Leu258Met, NP_001354329.1:p.Leu322Met, NP_001354330.1:p.Leu346Met, NP_001354333.1:p.Leu293Met, XP_047280897.1:p.Leu322Met, XP_047280898.1:p.Leu346Met, NP_001354337.1:p.Leu346Met, XP_047280899.1:p.Leu322Met, NP_001354325.1:p.Leu322Met, NP_001354326.1:p.Leu346Met, XP_047280900.1:p.Leu288Met, XP_047280901.1:p.Leu346Met, XP_047280902.1:p.Leu264Met, NP_001354323.1:p.Leu322Met, XP_047280903.1:p.Leu288Met, XP_047280904.1:p.Leu346Met, XP_047280905.1:p.Leu346Met, NP_001354342.1:p.Leu235Met, XP_047280906.1:p.Leu346Met, XP_047280907.1:p.Leu264Met, XP_047280908.1:p.Leu322Met, NP_001354328.1:p.Leu258Met, XP_047280913.1:p.Leu153Met, XP_047280909.1:p.Leu346Met, NP_001354344.1:p.Leu322Met, XP_047280910.1:p.Leu322Met, XP_047280911.1:p.Leu346Met, NP_001354345.1:p.Leu346Met, XP_047280912.1:p.Leu346Met

                                      19.

                                      rs1476651164 has merged into rs1166902540 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAA>-,AAAA,AAAAAA [Show Flanks]
                                        Chromosome:
                                        10:45784684 (GRCh38)
                                        10:46280132 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:45784681:AAAAAAA:AA,NC_000010.11:45784681:AAAAAAA:AAAAAA,NC_000010.11:45784681:AAAAAAA:AAAAAAAA
                                        Gene:
                                        WASHC2C (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAA=0./0 (ALFA)
                                        -=0.000087/23 (TOPMED)
                                        -=0.011849/61 (GoESP)
                                        HGVS:
                                        NC_000010.11:g.45784684_45784688del, NC_000010.11:g.45784688del, NC_000010.11:g.45784688dup, NC_000010.10:g.46280132_46280136del, NC_000010.10:g.46280136del, NC_000010.10:g.46280136dup, NW_003871068.1:g.55799_55803del, NW_003871068.1:g.55803del, NW_003871068.1:g.55803dup, XM_011539570.4:c.2424_2428del, XM_011539570.4:c.2428del, XM_011539570.4:c.2428dup, XM_011539570.3:c.2424_2428del, XM_011539570.3:c.2428del, XM_011539570.3:c.2428dup, XM_011539570.2:c.2424_2428del, XM_011539570.2:c.2428del, XM_011539570.2:c.2428dup, XM_011539570.1:c.2424_2428del, XM_011539570.1:c.2428del, XM_011539570.1:c.2428dup, XM_011539573.4:c.702_706del, XM_011539573.4:c.706del, XM_011539573.4:c.706dup, XM_011539573.3:c.702_706del, XM_011539573.3:c.706del, XM_011539573.3:c.706dup, XM_011539573.2:c.702_706del, XM_011539573.2:c.706del, XM_011539573.2:c.706dup, XM_011539573.1:c.702_706del, XM_011539573.1:c.706del, XM_011539573.1:c.706dup, NM_015262.3:c.2598_2602del, NM_015262.3:c.2602del, NM_015262.3:c.2602dup, NM_015262.2:c.2598_2602del, NM_015262.2:c.2602del, NM_015262.2:c.2602dup, XM_011539568.3:c.2511_2515del, XM_011539568.3:c.2515del, XM_011539568.3:c.2515dup, XM_011539568.2:c.2511_2515del, XM_011539568.2:c.2515del, XM_011539568.2:c.2515dup, XM_011539568.1:c.2511_2515del, XM_011539568.1:c.2515del, XM_011539568.1:c.2515dup, XM_017016014.3:c.2598_2602del, XM_017016014.3:c.2602del, XM_017016014.3:c.2602dup, XM_017016014.2:c.2598_2602del, XM_017016014.2:c.2602del, XM_017016014.2:c.2602dup, XM_017016014.1:c.2598_2602del, XM_017016014.1:c.2602del, XM_017016014.1:c.2602dup, XM_011539569.3:c.2445_2449del, XM_011539569.3:c.2449del, XM_011539569.3:c.2449dup, XM_011539569.2:c.2445_2449del, XM_011539569.2:c.2449del, XM_011539569.2:c.2449dup, XM_011539569.1:c.2445_2449del, XM_011539569.1:c.2449del, XM_011539569.1:c.2449dup, XM_017016017.3:c.2439_2443del, XM_017016017.3:c.2443del, XM_017016017.3:c.2443dup, XM_017016017.2:c.2439_2443del, XM_017016017.2:c.2443del, XM_017016017.2:c.2443dup, XM_017016017.1:c.2439_2443del, XM_017016017.1:c.2443del, XM_017016017.1:c.2443dup, NM_001330074.2:c.2598_2602del, NM_001330074.2:c.2602del, NM_001330074.2:c.2602dup, NM_001330074.1:c.2598_2602del, NM_001330074.1:c.2602del, NM_001330074.1:c.2602dup, NM_001169106.2:c.2598_2602del, NM_001169106.2:c.2602del, NM_001169106.2:c.2602dup, NM_001169106.1:c.2598_2602del, NM_001169106.1:c.2602del, NM_001169106.1:c.2602dup, NM_001169107.2:c.2373_2377del, NM_001169107.2:c.2377del, NM_001169107.2:c.2377dup, NM_001169107.1:c.2373_2377del, NM_001169107.1:c.2377del, NM_001169107.1:c.2377dup, NR_159966.1:n.3056_3060del, NR_159966.1:n.3060del, NR_159966.1:n.3060dup, NM_001367412.1:c.2019_2023del, NM_001367412.1:c.2023del, NM_001367412.1:c.2023dup, NM_001367395.1:c.2661_2665del, NM_001367395.1:c.2665del, NM_001367395.1:c.2665dup, NM_001367405.1:c.2019_2023del, NM_001367405.1:c.2023del, NM_001367405.1:c.2023dup, NM_001367407.1:c.2019_2023del, NM_001367407.1:c.2023del, NM_001367407.1:c.2023dup, NM_001367398.1:c.1947_1951del, NM_001367398.1:c.1951del, NM_001367398.1:c.1951dup, NM_001367414.1:c.2019_2023del, NM_001367414.1:c.2023del, NM_001367414.1:c.2023dup, NM_001367393.1:c.2592_2596del, NM_001367393.1:c.2596del, NM_001367393.1:c.2596dup, NM_001367411.1:c.2337_2341del, NM_001367411.1:c.2341del, NM_001367411.1:c.2341dup, NM_001367402.1:c.2019_2023del, NM_001367402.1:c.2023del, NM_001367402.1:c.2023dup, NM_001367403.1:c.2526_2530del, NM_001367403.1:c.2530del, NM_001367403.1:c.2530dup, NM_001367409.1:c.2337_2341del, NM_001367409.1:c.2341del, NM_001367409.1:c.2341dup, NM_001367410.1:c.2334_2338del, NM_001367410.1:c.2338del, NM_001367410.1:c.2338dup, NM_001367400.1:c.2526_2530del, NM_001367400.1:c.2530del, NM_001367400.1:c.2530dup, NM_001367401.1:c.2511_2515del, NM_001367401.1:c.2515del, NM_001367401.1:c.2515dup, NM_001367404.1:c.2439_2443del, NM_001367404.1:c.2443del, NM_001367404.1:c.2443dup, NM_001367406.1:c.708_712del, NM_001367406.1:c.712del, NM_001367406.1:c.712dup, XM_047424941.1:c.2526_2530del, XM_047424941.1:c.2530del, XM_047424941.1:c.2530dup, XM_047424942.1:c.2511_2515del, XM_047424942.1:c.2515del, XM_047424942.1:c.2515dup, NM_001367408.1:c.2445_2449del, NM_001367408.1:c.2449del, NM_001367408.1:c.2449dup, XM_047424943.1:c.2439_2443del, XM_047424943.1:c.2443del, XM_047424943.1:c.2443dup, NM_001367396.1:c.2373_2377del, NM_001367396.1:c.2377del, NM_001367396.1:c.2377dup, NM_001367397.1:c.2598_2602del, NM_001367397.1:c.2602del, NM_001367397.1:c.2602dup, XM_047424944.1:c.2424_2428del, XM_047424944.1:c.2428del, XM_047424944.1:c.2428dup, XM_047424945.1:c.2358_2362del, XM_047424945.1:c.2362del, XM_047424945.1:c.2362dup, XM_047424946.1:c.2352_2356del, XM_047424946.1:c.2356del, XM_047424946.1:c.2356dup, NM_001367394.1:c.2526_2530del, NM_001367394.1:c.2530del, NM_001367394.1:c.2530dup, XM_047424947.1:c.2337_2341del, XM_047424947.1:c.2341del, XM_047424947.1:c.2341dup, XM_047424948.1:c.2511_2515del, XM_047424948.1:c.2515del, XM_047424948.1:c.2515dup, XM_047424949.1:c.2445_2449del, XM_047424949.1:c.2449del, XM_047424949.1:c.2449dup, NM_001367413.1:c.2265_2269del, NM_001367413.1:c.2269del, NM_001367413.1:c.2269dup, XM_047424950.1:c.2358_2362del, XM_047424950.1:c.2362del, XM_047424950.1:c.2362dup, XM_047424951.1:c.2352_2356del, XM_047424951.1:c.2356del, XM_047424951.1:c.2356dup, XM_047424952.1:c.2286_2290del, XM_047424952.1:c.2290del, XM_047424952.1:c.2290dup, NM_001367399.1:c.2334_2338del, NM_001367399.1:c.2338del, NM_001367399.1:c.2338dup, XM_047424957.1:c.2019_2023del, XM_047424957.1:c.2023del, XM_047424957.1:c.2023dup, XM_047424953.1:c.2445_2449del, XM_047424953.1:c.2449del, XM_047424953.1:c.2449dup, NM_001367415.1:c.2526_2530del, NM_001367415.1:c.2530del, NM_001367415.1:c.2530dup, XM_047424954.1:c.2439_2443del, XM_047424954.1:c.2443del, XM_047424954.1:c.2443dup, XM_047424955.1:c.2358_2362del, XM_047424955.1:c.2362del, XM_047424955.1:c.2362dup, NM_001367416.1:c.2598_2602del, NM_001367416.1:c.2602del, NM_001367416.1:c.2602dup, XM_047424956.1:c.2511_2515del, XM_047424956.1:c.2515del, XM_047424956.1:c.2515dup, XM_047424959.1:c.708_712del, XM_047424959.1:c.712del, XM_047424959.1:c.712dup, XP_011537872.1:p.Lys808fs, XP_011537872.1:p.Thr810fs, XP_011537872.1:p.Thr810fs, XP_011537875.1:p.Lys234fs, XP_011537875.1:p.Thr236fs, XP_011537875.1:p.Thr236fs, NP_056077.2:p.Lys866fs, NP_056077.2:p.Thr868fs, NP_056077.2:p.Thr868fs, XP_011537870.1:p.Lys837fs, XP_011537870.1:p.Thr839fs, XP_011537870.1:p.Thr839fs, XP_016871503.1:p.Lys866fs, XP_016871503.1:p.Thr868fs, XP_016871503.1:p.Thr868fs, XP_011537871.1:p.Lys815fs, XP_011537871.1:p.Thr817fs, XP_011537871.1:p.Thr817fs, XP_016871506.1:p.Lys813fs, XP_016871506.1:p.Thr815fs, XP_016871506.1:p.Thr815fs, NP_001317003.1:p.Lys866fs, NP_001317003.1:p.Thr868fs, NP_001317003.1:p.Thr868fs, NP_001162577.1:p.Lys866fs, NP_001162577.1:p.Thr868fs, NP_001162577.1:p.Thr868fs, NP_001162578.1:p.Lys791fs, NP_001162578.1:p.Thr793fs, NP_001162578.1:p.Thr793fs, NP_001354341.1:p.Lys673fs, NP_001354341.1:p.Thr675fs, NP_001354341.1:p.Thr675fs, NP_001354324.1:p.Lys887fs, NP_001354324.1:p.Thr889fs, NP_001354324.1:p.Thr889fs, NP_001354334.1:p.Lys673fs, NP_001354334.1:p.Thr675fs, NP_001354334.1:p.Thr675fs, NP_001354336.1:p.Lys673fs, NP_001354336.1:p.Thr675fs, NP_001354336.1:p.Thr675fs, NP_001354327.1:p.Lys649fs, NP_001354327.1:p.Thr651fs, NP_001354327.1:p.Thr651fs, NP_001354343.1:p.Lys673fs, NP_001354343.1:p.Thr675fs, NP_001354343.1:p.Thr675fs, NP_001354322.1:p.Lys864fs, NP_001354322.1:p.Thr866fs, NP_001354322.1:p.Thr866fs, NP_001354340.1:p.Lys779fs, NP_001354340.1:p.Thr781fs, NP_001354340.1:p.Thr781fs, NP_001354331.1:p.Lys673fs, NP_001354331.1:p.Thr675fs, NP_001354331.1:p.Thr675fs, NP_001354332.1:p.Lys842fs, NP_001354332.1:p.Thr844fs, NP_001354332.1:p.Thr844fs, NP_001354338.1:p.Lys779fs, NP_001354338.1:p.Thr781fs, NP_001354338.1:p.Thr781fs, NP_001354339.1:p.Lys778fs, NP_001354339.1:p.Thr780fs, NP_001354339.1:p.Thr780fs, NP_001354329.1:p.Lys842fs, NP_001354329.1:p.Thr844fs, NP_001354329.1:p.Thr844fs, NP_001354330.1:p.Lys837fs, NP_001354330.1:p.Thr839fs, NP_001354330.1:p.Thr839fs, NP_001354333.1:p.Lys813fs, NP_001354333.1:p.Thr815fs, NP_001354333.1:p.Thr815fs, NP_001354335.1:p.Lys236fs, NP_001354335.1:p.Thr238fs, NP_001354335.1:p.Thr238fs, XP_047280897.1:p.Lys842fs, XP_047280897.1:p.Thr844fs, XP_047280897.1:p.Thr844fs, XP_047280898.1:p.Lys837fs, XP_047280898.1:p.Thr839fs, XP_047280898.1:p.Thr839fs, NP_001354337.1:p.Lys815fs, NP_001354337.1:p.Thr817fs, NP_001354337.1:p.Thr817fs, XP_047280899.1:p.Lys813fs, XP_047280899.1:p.Thr815fs, XP_047280899.1:p.Thr815fs, NP_001354325.1:p.Lys791fs, NP_001354325.1:p.Thr793fs, NP_001354325.1:p.Thr793fs, NP_001354326.1:p.Lys866fs, NP_001354326.1:p.Thr868fs, NP_001354326.1:p.Thr868fs, XP_047280900.1:p.Lys808fs, XP_047280900.1:p.Thr810fs, XP_047280900.1:p.Thr810fs, XP_047280901.1:p.Lys786fs, XP_047280901.1:p.Thr788fs, XP_047280901.1:p.Thr788fs, XP_047280902.1:p.Lys784fs, XP_047280902.1:p.Thr786fs, XP_047280902.1:p.Thr786fs, NP_001354323.1:p.Lys842fs, NP_001354323.1:p.Thr844fs, NP_001354323.1:p.Thr844fs, XP_047280903.1:p.Lys779fs, XP_047280903.1:p.Thr781fs, XP_047280903.1:p.Thr781fs, XP_047280904.1:p.Lys837fs, XP_047280904.1:p.Thr839fs, XP_047280904.1:p.Thr839fs, XP_047280905.1:p.Lys815fs, XP_047280905.1:p.Thr817fs, XP_047280905.1:p.Thr817fs, NP_001354342.1:p.Lys755fs, NP_001354342.1:p.Thr757fs, NP_001354342.1:p.Thr757fs, XP_047280906.1:p.Lys786fs, XP_047280906.1:p.Thr788fs, XP_047280906.1:p.Thr788fs, XP_047280907.1:p.Lys784fs, XP_047280907.1:p.Thr786fs, XP_047280907.1:p.Thr786fs, XP_047280908.1:p.Lys762fs, XP_047280908.1:p.Thr764fs, XP_047280908.1:p.Thr764fs, NP_001354328.1:p.Lys778fs, NP_001354328.1:p.Thr780fs, NP_001354328.1:p.Thr780fs, XP_047280913.1:p.Lys673fs, XP_047280913.1:p.Thr675fs, XP_047280913.1:p.Thr675fs, XP_047280909.1:p.Lys815fs, XP_047280909.1:p.Thr817fs, XP_047280909.1:p.Thr817fs, NP_001354344.1:p.Lys842fs, NP_001354344.1:p.Thr844fs, NP_001354344.1:p.Thr844fs, XP_047280910.1:p.Lys813fs, XP_047280910.1:p.Thr815fs, XP_047280910.1:p.Thr815fs, XP_047280911.1:p.Lys786fs, XP_047280911.1:p.Thr788fs, XP_047280911.1:p.Thr788fs, NP_001354345.1:p.Lys866fs, NP_001354345.1:p.Thr868fs, NP_001354345.1:p.Thr868fs, XP_047280912.1:p.Lys837fs, XP_047280912.1:p.Thr839fs, XP_047280912.1:p.Thr839fs, XP_047280915.1:p.Lys236fs, XP_047280915.1:p.Thr238fs, XP_047280915.1:p.Thr238fs

                                        20.

                                        rs1476150981 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          10:45740132 (GRCh38)
                                          10:46235580 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:45740131:C:
                                          Gene:
                                          WASHC2C (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000011/1 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.45740132del, NC_000010.10:g.46235580del, NW_003871068.1:g.11247del, NM_015262.3:c.414del, NM_015262.2:c.414del, XM_011539568.3:c.414del, XM_011539568.2:c.414del, XM_011539568.1:c.414del, XM_017016014.3:c.414del, XM_017016014.2:c.414del, XM_017016014.1:c.414del, XM_011539569.3:c.414del, XM_011539569.2:c.414del, XM_011539569.1:c.414del, XM_017016017.3:c.414del, XM_017016017.2:c.414del, XM_017016017.1:c.414del, XM_011539572.3:c.414del, XM_011539572.2:c.414del, XM_011539572.1:c.414del, NM_001330074.2:c.414del, NM_001330074.1:c.414del, NM_001169106.2:c.414del, NM_001169106.1:c.414del, NM_001169107.2:c.414del, NM_001169107.1:c.414del, NR_159966.1:n.466del, NM_001367412.1:c.-263del, NM_001367395.1:c.414del, NM_001367405.1:c.-280del, NM_001367407.1:c.-260del, NM_001367398.1:c.-263del, NM_001367414.1:c.-280del, NM_001367393.1:c.411del, NM_001367411.1:c.153del, NM_001367402.1:c.-166del, NM_001367403.1:c.414del, NM_001367409.1:c.153del, NM_001367410.1:c.153del, NM_001367400.1:c.414del, NM_001367401.1:c.414del, NM_001367404.1:c.414del, NM_001367406.1:c.-1307del, XM_047424941.1:c.414del, XM_047424942.1:c.414del, NM_001367408.1:c.414del, XM_047424943.1:c.414del, NM_001367396.1:c.414del, NM_001367397.1:c.414del, XM_047424945.1:c.414del, NM_001367394.1:c.414del, XM_047424948.1:c.414del, XM_047424949.1:c.414del, NM_001367413.1:c.153del, XM_047424950.1:c.414del, XM_047424952.1:c.414del, NM_001367399.1:c.153del, XM_047424957.1:c.-166del, XM_047424953.1:c.414del, NM_001367415.1:c.414del, XM_047424954.1:c.414del, XM_047424955.1:c.414del, NM_001367416.1:c.414del, XM_047424956.1:c.414del, NP_056077.2:p.Tyr139fs, XP_011537870.1:p.Tyr139fs, XP_016871503.1:p.Tyr139fs, XP_011537871.1:p.Tyr139fs, XP_016871506.1:p.Tyr139fs, XP_011537874.1:p.Tyr139fs, NP_001317003.1:p.Tyr139fs, NP_001162577.1:p.Tyr139fs, NP_001162578.1:p.Tyr139fs, NP_001354324.1:p.Tyr139fs, NP_001354322.1:p.Tyr138fs, NP_001354340.1:p.Tyr52fs, NP_001354332.1:p.Tyr139fs, NP_001354338.1:p.Tyr52fs, NP_001354339.1:p.Tyr52fs, NP_001354329.1:p.Tyr139fs, NP_001354330.1:p.Tyr139fs, NP_001354333.1:p.Tyr139fs, XP_047280897.1:p.Tyr139fs, XP_047280898.1:p.Tyr139fs, NP_001354337.1:p.Tyr139fs, XP_047280899.1:p.Tyr139fs, NP_001354325.1:p.Tyr139fs, NP_001354326.1:p.Tyr139fs, XP_047280901.1:p.Tyr139fs, NP_001354323.1:p.Tyr139fs, XP_047280904.1:p.Tyr139fs, XP_047280905.1:p.Tyr139fs, NP_001354342.1:p.Tyr52fs, XP_047280906.1:p.Tyr139fs, XP_047280908.1:p.Tyr139fs, NP_001354328.1:p.Tyr52fs, XP_047280909.1:p.Tyr139fs, NP_001354344.1:p.Tyr139fs, XP_047280910.1:p.Tyr139fs, XP_047280911.1:p.Tyr139fs, NP_001354345.1:p.Tyr139fs, XP_047280912.1:p.Tyr139fs

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