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Items: 1 to 20 of 1577

1.

rs1489884260 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    8:67154041 (GRCh38)
    8:68066276 (GRCh37)
    Canonical SPDI:
    NC_000008.11:67154038:AGAG:AG
    Gene:
    CSPP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAG=0./0 (ALFA)
    -=0.000008/2 (TOPMED)
    -=0.000014/2 (GnomAD)
    HGVS:
    NC_000008.11:g.67154039AG[1], NC_000008.10:g.68066274AG[1], NG_034100.1:g.94672AG[1], NM_024790.6:c.2131_2132del, NM_001363131.2:c.2065_2066del, NM_001363131.1:c.2065_2066del, NM_001291339.2:c.1096_1097del, NM_001291339.1:c.1096_1097del, NM_001363132.2:c.1951_1952del, NM_001363132.1:c.1951_1952del, NM_001363133.2:c.1870_1871del, NM_001363133.1:c.1870_1871del, NM_001382391.1:c.2146_2147del, NM_001364869.1:c.2212_2213del, NM_001364870.1:c.2032_2033del, XM_005251305.5:c.2236_2237del, XM_005251305.4:c.2374_2375del, XM_005251305.3:c.2374_2375del, XM_005251305.2:c.2236_2237del, XM_005251305.1:c.2236_2237del, XM_006716474.4:c.2083_2084del, XM_006716474.3:c.2221_2222del, XM_006716474.2:c.2221_2222del, XM_006716474.1:c.2083_2084del, XM_006716477.4:c.1705_1706del, XM_006716477.3:c.1843_1844del, XM_006716477.2:c.1843_1844del, XM_006716477.1:c.1705_1706del, XM_011517611.4:c.451_452del, XM_011517611.3:c.451_452del, XM_011517611.2:c.451_452del, XM_011517611.1:c.451_452del, XM_011517598.3:c.2278_2279del, XM_011517598.2:c.2416_2417del, XM_011517598.1:c.2416_2417del, XM_011517599.3:c.2254_2255del, XM_011517599.2:c.2392_2393del, XM_011517599.1:c.2392_2393del, XM_011517601.3:c.2173_2174del, XM_011517601.2:c.2311_2312del, XM_011517601.1:c.2311_2312del, XM_017013847.3:c.2137_2138del, XM_017013847.2:c.2275_2276del, XM_017013847.1:c.2275_2276del, XM_017013849.3:c.2074_2075del, XM_017013849.2:c.2212_2213del, XM_017013849.1:c.2212_2213del, XM_017013854.3:c.1681_1682del, XM_017013854.2:c.1819_1820del, XM_017013854.1:c.1819_1820del, XM_047422251.1:c.2167_2168del, XM_047422262.1:c.1249_1250del, XM_047422244.1:c.2179_2180del, XM_047422253.1:c.2278_2279del, XM_047422245.1:c.2125_2126del, XM_047422246.1:c.2113_2114del, XM_047422254.1:c.2236_2237del, XM_047422249.1:c.2059_2060del, XM_047422256.1:c.2131_2132del, XM_047422257.1:c.2125_2126del, XM_047422252.1:c.1978_1979del, NM_001077204.1:c.2236_2237del, XM_047422255.1:c.1879_1880del, XM_047422259.1:c.1600_1601del, XM_047422260.1:c.1528_1529del, XM_047422261.1:c.1447_1448del, XM_047422247.1:c.2278_2279del, XM_047422250.1:c.2278_2279del, XM_047422258.1:c.2278_2279del, NP_079066.5:p.Ser711fs, NP_001350060.1:p.Ser689fs, NP_001278268.1:p.Ser366fs, NP_001350061.1:p.Ser651fs, NP_001350062.1:p.Ser624fs, NP_001369320.1:p.Ser716fs, NP_001351798.1:p.Ser738fs, NP_001351799.1:p.Ser678fs, XP_005251362.3:p.Ser746fs, XP_006716537.3:p.Ser695fs, XP_006716540.3:p.Ser569fs, XP_011515913.1:p.Ser151fs, XP_011515900.2:p.Ser760fs, XP_011515901.2:p.Ser752fs, XP_011515903.2:p.Ser725fs, XP_016869336.2:p.Ser713fs, XP_016869338.2:p.Ser692fs, XP_016869343.2:p.Ser561fs, XP_047278207.1:p.Ser723fs, XP_047278218.1:p.Ser417fs, XP_047278200.1:p.Ser727fs, XP_047278209.1:p.Ser760fs, XP_047278201.1:p.Ser709fs, XP_047278202.1:p.Ser705fs, XP_047278210.1:p.Ser746fs, XP_047278205.1:p.Ser687fs, XP_047278212.1:p.Ser711fs, XP_047278213.1:p.Ser709fs, XP_047278208.1:p.Ser660fs, XP_047278211.1:p.Ser627fs, XP_047278215.1:p.Ser534fs, XP_047278216.1:p.Ser510fs, XP_047278217.1:p.Ser483fs, XP_047278203.1:p.Ser760fs, XP_047278206.1:p.Ser760fs, XP_047278214.1:p.Ser760fs

    2.

    rs1489643509 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      8:67195795 (GRCh38)
      8:68108030 (GRCh37)
      Canonical SPDI:
      NC_000008.11:67195794:G:
      Gene:
      ARFGEF1 (Varview), CSPP1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.67195795del, NC_000008.10:g.68108030del, NG_034100.1:g.136428del, NM_024790.6:c.*202del, NM_001363131.2:c.*202del, NM_001363131.1:c.*202del, NM_001291339.2:c.*202del, NM_001291339.1:c.*202del, NM_001363132.2:c.*202del, NM_001363132.1:c.*202del, NM_001363133.2:c.*202del, NM_001363133.1:c.*202del, NM_001382391.1:c.*202del, NM_001364869.1:c.*202del, NM_001364870.1:c.*202del, XM_005251305.5:c.*202del, XM_005251305.4:c.*202del, XM_005251305.3:c.*202del, XM_005251305.2:c.*202del, XM_005251305.1:c.*202del, XM_006716474.4:c.*202del, XM_006716474.3:c.*202del, XM_006716474.2:c.*202del, XM_006716474.1:c.*202del, XM_006716477.4:c.*202del, XM_006716477.3:c.*202del, XM_006716477.2:c.*202del, XM_006716477.1:c.*202del, XM_011517611.4:c.*202del, XM_011517611.3:c.*202del, XM_011517611.2:c.*202del, XM_011517611.1:c.*202del, XM_011517598.3:c.*202del, XM_011517598.2:c.*202del, XM_011517598.1:c.*202del, XM_011517599.3:c.*202del, XM_011517599.2:c.*202del, XM_011517599.1:c.*202del, XM_011517601.3:c.*202del, XM_011517601.2:c.*202del, XM_011517601.1:c.*202del, XM_017013847.3:c.*202del, XM_017013847.2:c.*202del, XM_017013847.1:c.*202del, XM_017013849.3:c.*202del, XM_017013849.2:c.*202del, XM_017013849.1:c.*202del, XM_017013854.3:c.*202del, XM_017013854.2:c.*202del, XM_017013854.1:c.*202del, XM_047422251.1:c.*202del, XM_047422262.1:c.*202del, XM_047422244.1:c.*202del, XM_047422253.1:c.*375del, XM_047422245.1:c.*202del, XM_047422246.1:c.*202del, XM_047422254.1:c.*375del, XM_047422249.1:c.*202del, XM_047422256.1:c.*375del, XM_047422257.1:c.*375del, XM_047422252.1:c.*202del, NM_001077204.1:c.*202del, XM_047422255.1:c.*202del, XM_047422259.1:c.*202del, XM_047422260.1:c.*202del, XM_047422261.1:c.*202del

      3.

      rs1488983174 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        8:67195445 (GRCh38)
        8:68107680 (GRCh37)
        Canonical SPDI:
        NC_000008.11:67195444:A:C
        Gene:
        ARFGEF1 (Varview), CSPP1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.67195445A>C, NC_000008.10:g.68107680A>C, NG_034100.1:g.136078A>C, NM_024790.6:c.3518A>C, NM_001363131.2:c.3452A>C, NM_001363131.1:c.3452A>C, NM_001291339.2:c.2483A>C, NM_001291339.1:c.2483A>C, NM_001363132.2:c.3338A>C, NM_001363132.1:c.3338A>C, NM_001363133.2:c.3257A>C, NM_001363133.1:c.3257A>C, NM_001382391.1:c.3533A>C, NM_001364869.1:c.3599A>C, NM_001364870.1:c.3419A>C, XM_005251305.5:c.3623A>C, XM_005251305.4:c.3761A>C, XM_005251305.3:c.3761A>C, XM_005251305.2:c.3623A>C, XM_005251305.1:c.3623A>C, XM_006716474.4:c.3470A>C, XM_006716474.3:c.3608A>C, XM_006716474.2:c.3608A>C, XM_006716474.1:c.3470A>C, XM_006716477.4:c.3092A>C, XM_006716477.3:c.3230A>C, XM_006716477.2:c.3230A>C, XM_006716477.1:c.3092A>C, XM_011517611.4:c.1838A>C, XM_011517611.3:c.1838A>C, XM_011517611.2:c.1838A>C, XM_011517611.1:c.1838A>C, XM_011517598.3:c.3665A>C, XM_011517598.2:c.3803A>C, XM_011517598.1:c.3803A>C, XM_011517599.3:c.3641A>C, XM_011517599.2:c.3779A>C, XM_011517599.1:c.3779A>C, XM_011517601.3:c.3560A>C, XM_011517601.2:c.3698A>C, XM_011517601.1:c.3698A>C, XM_017013847.3:c.3524A>C, XM_017013847.2:c.3662A>C, XM_017013847.1:c.3662A>C, XM_017013849.3:c.3461A>C, XM_017013849.2:c.3599A>C, XM_017013849.1:c.3599A>C, XM_017013854.3:c.3068A>C, XM_017013854.2:c.3206A>C, XM_017013854.1:c.3206A>C, XM_047422251.1:c.3554A>C, XM_047422262.1:c.2636A>C, XM_047422244.1:c.3566A>C, XM_047422253.1:c.*25A>C, XM_047422245.1:c.3512A>C, XM_047422246.1:c.3500A>C, XM_047422254.1:c.*25A>C, XM_047422249.1:c.3446A>C, XM_047422256.1:c.*25A>C, XM_047422257.1:c.*25A>C, XM_047422252.1:c.3365A>C, NM_001077204.1:c.3623A>C, XM_047422255.1:c.3266A>C, XM_047422259.1:c.2987A>C, XM_047422260.1:c.2915A>C, XM_047422261.1:c.2834A>C, NP_079066.5:p.Asn1173Thr, NP_001350060.1:p.Asn1151Thr, NP_001278268.1:p.Asn828Thr, NP_001350061.1:p.Asn1113Thr, NP_001350062.1:p.Asn1086Thr, NP_001369320.1:p.Asn1178Thr, NP_001351798.1:p.Asn1200Thr, NP_001351799.1:p.Asn1140Thr, XP_005251362.3:p.Asn1208Thr, XP_006716537.3:p.Asn1157Thr, XP_006716540.3:p.Asn1031Thr, XP_011515913.1:p.Asn613Thr, XP_011515900.2:p.Asn1222Thr, XP_011515901.2:p.Asn1214Thr, XP_011515903.2:p.Asn1187Thr, XP_016869336.2:p.Asn1175Thr, XP_016869338.2:p.Asn1154Thr, XP_016869343.2:p.Asn1023Thr, XP_047278207.1:p.Asn1185Thr, XP_047278218.1:p.Asn879Thr, XP_047278200.1:p.Asn1189Thr, XP_047278201.1:p.Asn1171Thr, XP_047278202.1:p.Asn1167Thr, XP_047278205.1:p.Asn1149Thr, XP_047278208.1:p.Asn1122Thr, XP_047278211.1:p.Asn1089Thr, XP_047278215.1:p.Asn996Thr, XP_047278216.1:p.Asn972Thr, XP_047278217.1:p.Asn945Thr

        4.

        rs1488071590 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:67154070 (GRCh38)
          8:68066305 (GRCh37)
          Canonical SPDI:
          NC_000008.11:67154069:T:C
          Gene:
          CSPP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.67154070T>C, NC_000008.10:g.68066305T>C, NG_034100.1:g.94703T>C, NM_024790.6:c.2160T>C, NM_001363131.2:c.2094T>C, NM_001363131.1:c.2094T>C, NM_001291339.2:c.1125T>C, NM_001291339.1:c.1125T>C, NM_001363132.2:c.1980T>C, NM_001363132.1:c.1980T>C, NM_001363133.2:c.1899T>C, NM_001363133.1:c.1899T>C, NM_001382391.1:c.2175T>C, NM_001364869.1:c.2241T>C, NM_001364870.1:c.2061T>C, XM_005251305.5:c.2265T>C, XM_005251305.4:c.2403T>C, XM_005251305.3:c.2403T>C, XM_005251305.2:c.2265T>C, XM_005251305.1:c.2265T>C, XM_006716474.4:c.2112T>C, XM_006716474.3:c.2250T>C, XM_006716474.2:c.2250T>C, XM_006716474.1:c.2112T>C, XM_006716477.4:c.1734T>C, XM_006716477.3:c.1872T>C, XM_006716477.2:c.1872T>C, XM_006716477.1:c.1734T>C, XM_011517611.4:c.480T>C, XM_011517611.3:c.480T>C, XM_011517611.2:c.480T>C, XM_011517611.1:c.480T>C, XM_011517598.3:c.2307T>C, XM_011517598.2:c.2445T>C, XM_011517598.1:c.2445T>C, XM_011517599.3:c.2283T>C, XM_011517599.2:c.2421T>C, XM_011517599.1:c.2421T>C, XM_011517601.3:c.2202T>C, XM_011517601.2:c.2340T>C, XM_011517601.1:c.2340T>C, XM_017013847.3:c.2166T>C, XM_017013847.2:c.2304T>C, XM_017013847.1:c.2304T>C, XM_017013849.3:c.2103T>C, XM_017013849.2:c.2241T>C, XM_017013849.1:c.2241T>C, XM_017013854.3:c.1710T>C, XM_017013854.2:c.1848T>C, XM_017013854.1:c.1848T>C, XM_047422251.1:c.2196T>C, XM_047422262.1:c.1278T>C, XM_047422244.1:c.2208T>C, XM_047422253.1:c.2307T>C, XM_047422245.1:c.2154T>C, XM_047422246.1:c.2142T>C, XM_047422254.1:c.2265T>C, XM_047422249.1:c.2088T>C, XM_047422256.1:c.2160T>C, XM_047422257.1:c.2154T>C, XM_047422252.1:c.2007T>C, NM_001077204.1:c.2265T>C, XM_047422255.1:c.1908T>C, XM_047422259.1:c.1629T>C, XM_047422260.1:c.1557T>C, XM_047422261.1:c.1476T>C, XM_047422247.1:c.2307T>C, XM_047422250.1:c.2307T>C, XM_047422258.1:c.2307T>C

          5.

          rs1487742381 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TTCT [Show Flanks]
            Chromosome:
            8:67196158 (GRCh38)
            8:68108394 (GRCh37)
            Canonical SPDI:
            NC_000008.11:67196158:TCTTTCT:TCTTTCTTTCT
            Gene:
            ARFGEF1 (Varview), CSPP1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            TCTTTCTTTCT=0./0 (ALFA)
            TCTT=0.000004/1 (TOPMED)
            HGVS:
            NC_000008.11:g.67196162_67196165dup, NC_000008.10:g.68108397_68108400dup, NG_034100.1:g.136795_136798dup, NM_024790.6:c.*569_*572dup, NM_001363131.2:c.*569_*572dup, NM_001363131.1:c.*569_*572dup, NM_001291339.2:c.*569_*572dup, NM_001291339.1:c.*569_*572dup, NM_001363132.2:c.*569_*572dup, NM_001363132.1:c.*569_*572dup, NM_001363133.2:c.*569_*572dup, NM_001363133.1:c.*569_*572dup, NM_001382391.1:c.*569_*572dup, NM_001364869.1:c.*569_*572dup, NM_001364870.1:c.*569_*572dup, XM_005251305.5:c.*569_*572dup, XM_005251305.4:c.*569_*572dup, XM_005251305.3:c.*569_*572dup, XM_005251305.2:c.*569_*572dup, XM_005251305.1:c.*569_*572dup, XM_006716474.4:c.*569_*572dup, XM_006716474.3:c.*569_*572dup, XM_006716474.2:c.*569_*572dup, XM_006716474.1:c.*569_*572dup, XM_006716477.4:c.*569_*572dup, XM_006716477.3:c.*569_*572dup, XM_006716477.2:c.*569_*572dup, XM_006716477.1:c.*569_*572dup, XM_011517611.4:c.*569_*572dup, XM_011517611.3:c.*569_*572dup, XM_011517611.2:c.*569_*572dup, XM_011517611.1:c.*569_*572dup, XM_011517598.3:c.*569_*572dup, XM_011517598.2:c.*569_*572dup, XM_011517598.1:c.*569_*572dup, XM_011517599.3:c.*569_*572dup, XM_011517599.2:c.*569_*572dup, XM_011517599.1:c.*569_*572dup, XM_011517601.3:c.*569_*572dup, XM_011517601.2:c.*569_*572dup, XM_011517601.1:c.*569_*572dup, XM_017013847.3:c.*569_*572dup, XM_017013847.2:c.*569_*572dup, XM_017013847.1:c.*569_*572dup, XM_017013849.3:c.*569_*572dup, XM_017013849.2:c.*569_*572dup, XM_017013849.1:c.*569_*572dup, XM_017013854.3:c.*569_*572dup, XM_017013854.2:c.*569_*572dup, XM_017013854.1:c.*569_*572dup, XM_047422251.1:c.*569_*572dup, XM_047422262.1:c.*569_*572dup, XM_047422244.1:c.*569_*572dup, XM_047422253.1:c.*742_*745dup, XM_047422245.1:c.*569_*572dup, XM_047422246.1:c.*569_*572dup, XM_047422254.1:c.*742_*745dup, XM_047422249.1:c.*569_*572dup, XM_047422256.1:c.*742_*745dup, XM_047422257.1:c.*742_*745dup, XM_047422252.1:c.*569_*572dup, NM_001077204.1:c.*569_*572dup, XM_047422255.1:c.*569_*572dup, XM_047422259.1:c.*569_*572dup, XM_047422260.1:c.*569_*572dup, XM_047422261.1:c.*569_*572dup

            6.

            rs1486832745 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:67164444 (GRCh38)
              8:68076679 (GRCh37)
              Canonical SPDI:
              NC_000008.11:67164443:A:G
              Gene:
              CSPP1 (Varview), LOC124901956 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000008.11:g.67164444A>G, NC_000008.10:g.68076679A>G, NG_034100.1:g.105077A>G, NM_024790.6:c.2749A>G, NM_001363131.2:c.2683A>G, NM_001363131.1:c.2683A>G, NM_001291339.2:c.1714A>G, NM_001291339.1:c.1714A>G, NM_001363132.2:c.2569A>G, NM_001363132.1:c.2569A>G, NM_001363133.2:c.2488A>G, NM_001363133.1:c.2488A>G, NM_001382391.1:c.2764A>G, NM_001364869.1:c.2830A>G, NM_001364870.1:c.2650A>G, XM_005251305.5:c.2854A>G, XM_005251305.4:c.2992A>G, XM_005251305.3:c.2992A>G, XM_005251305.2:c.2854A>G, XM_005251305.1:c.2854A>G, XM_006716474.4:c.2701A>G, XM_006716474.3:c.2839A>G, XM_006716474.2:c.2839A>G, XM_006716474.1:c.2701A>G, XM_006716477.4:c.2323A>G, XM_006716477.3:c.2461A>G, XM_006716477.2:c.2461A>G, XM_006716477.1:c.2323A>G, XM_011517611.4:c.1069A>G, XM_011517611.3:c.1069A>G, XM_011517611.2:c.1069A>G, XM_011517611.1:c.1069A>G, XM_011517598.3:c.2896A>G, XM_011517598.2:c.3034A>G, XM_011517598.1:c.3034A>G, XM_011517599.3:c.2872A>G, XM_011517599.2:c.3010A>G, XM_011517599.1:c.3010A>G, XM_011517601.3:c.2791A>G, XM_011517601.2:c.2929A>G, XM_011517601.1:c.2929A>G, XM_017013847.3:c.2755A>G, XM_017013847.2:c.2893A>G, XM_017013847.1:c.2893A>G, XM_017013849.3:c.2692A>G, XM_017013849.2:c.2830A>G, XM_017013849.1:c.2830A>G, XM_017013854.3:c.2299A>G, XM_017013854.2:c.2437A>G, XM_017013854.1:c.2437A>G, XM_047422251.1:c.2785A>G, XM_047422262.1:c.1867A>G, XM_047422244.1:c.2797A>G, XM_047422253.1:c.2896A>G, XM_047422245.1:c.2743A>G, XM_047422246.1:c.2731A>G, XM_047422254.1:c.2854A>G, XM_047422249.1:c.2677A>G, XM_047422256.1:c.2749A>G, XM_047422257.1:c.2743A>G, XM_047422252.1:c.2596A>G, NM_001077204.1:c.2854A>G, XM_047422255.1:c.2497A>G, XM_047422259.1:c.2218A>G, XM_047422260.1:c.2146A>G, XM_047422261.1:c.2065A>G, XM_047422247.1:c.2896A>G, XM_047422250.1:c.2896A>G, XM_047422258.1:c.2896A>G, NP_079066.5:p.Ser917Gly, NP_001350060.1:p.Ser895Gly, NP_001278268.1:p.Ser572Gly, NP_001350061.1:p.Ser857Gly, NP_001350062.1:p.Ser830Gly, NP_001369320.1:p.Ser922Gly, NP_001351798.1:p.Ser944Gly, NP_001351799.1:p.Ser884Gly, XP_005251362.3:p.Ser952Gly, XP_006716537.3:p.Ser901Gly, XP_006716540.3:p.Ser775Gly, XP_011515913.1:p.Ser357Gly, XP_011515900.2:p.Ser966Gly, XP_011515901.2:p.Ser958Gly, XP_011515903.2:p.Ser931Gly, XP_016869336.2:p.Ser919Gly, XP_016869338.2:p.Ser898Gly, XP_016869343.2:p.Ser767Gly, XP_047278207.1:p.Ser929Gly, XP_047278218.1:p.Ser623Gly, XP_047278200.1:p.Ser933Gly, XP_047278209.1:p.Ser966Gly, XP_047278201.1:p.Ser915Gly, XP_047278202.1:p.Ser911Gly, XP_047278210.1:p.Ser952Gly, XP_047278205.1:p.Ser893Gly, XP_047278212.1:p.Ser917Gly, XP_047278213.1:p.Ser915Gly, XP_047278208.1:p.Ser866Gly, XP_047278211.1:p.Ser833Gly, XP_047278215.1:p.Ser740Gly, XP_047278216.1:p.Ser716Gly, XP_047278217.1:p.Ser689Gly, XP_047278203.1:p.Ser966Gly, XP_047278206.1:p.Ser966Gly, XP_047278214.1:p.Ser966Gly

              7.

              rs1486107393 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                8:67161906 (GRCh38)
                8:68074141 (GRCh37)
                Canonical SPDI:
                NC_000008.11:67161905:C:G
                Gene:
                CSPP1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                G=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000008.11:g.67161906C>G, NC_000008.10:g.68074141C>G, NG_034100.1:g.102539C>G, NM_024790.6:c.2619C>G, NM_001363131.2:c.2553C>G, NM_001363131.1:c.2553C>G, NM_001291339.2:c.1584C>G, NM_001291339.1:c.1584C>G, NM_001363132.2:c.2439C>G, NM_001363132.1:c.2439C>G, NM_001363133.2:c.2358C>G, NM_001363133.1:c.2358C>G, NM_001382391.1:c.2634C>G, NM_001364869.1:c.2700C>G, NM_001364870.1:c.2520C>G, XM_005251305.5:c.2724C>G, XM_005251305.4:c.2862C>G, XM_005251305.3:c.2862C>G, XM_005251305.2:c.2724C>G, XM_005251305.1:c.2724C>G, XM_006716474.4:c.2571C>G, XM_006716474.3:c.2709C>G, XM_006716474.2:c.2709C>G, XM_006716474.1:c.2571C>G, XM_006716477.4:c.2193C>G, XM_006716477.3:c.2331C>G, XM_006716477.2:c.2331C>G, XM_006716477.1:c.2193C>G, XM_011517611.4:c.939C>G, XM_011517611.3:c.939C>G, XM_011517611.2:c.939C>G, XM_011517611.1:c.939C>G, XM_011517598.3:c.2766C>G, XM_011517598.2:c.2904C>G, XM_011517598.1:c.2904C>G, XM_011517599.3:c.2742C>G, XM_011517599.2:c.2880C>G, XM_011517599.1:c.2880C>G, XM_011517601.3:c.2661C>G, XM_011517601.2:c.2799C>G, XM_011517601.1:c.2799C>G, XM_017013847.3:c.2625C>G, XM_017013847.2:c.2763C>G, XM_017013847.1:c.2763C>G, XM_017013849.3:c.2562C>G, XM_017013849.2:c.2700C>G, XM_017013849.1:c.2700C>G, XM_017013854.3:c.2169C>G, XM_017013854.2:c.2307C>G, XM_017013854.1:c.2307C>G, XM_047422251.1:c.2655C>G, XM_047422262.1:c.1737C>G, XM_047422244.1:c.2667C>G, XM_047422253.1:c.2766C>G, XM_047422245.1:c.2613C>G, XM_047422246.1:c.2601C>G, XM_047422254.1:c.2724C>G, XM_047422249.1:c.2547C>G, XM_047422256.1:c.2619C>G, XM_047422257.1:c.2613C>G, XM_047422252.1:c.2466C>G, NM_001077204.1:c.2724C>G, XM_047422255.1:c.2367C>G, XM_047422259.1:c.2088C>G, XM_047422260.1:c.2016C>G, XM_047422261.1:c.1935C>G, XM_047422247.1:c.2766C>G, XM_047422250.1:c.2766C>G, XM_047422258.1:c.2766C>G

                8.

                rs1486094930 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  8:67164465 (GRCh38)
                  8:68076700 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:67164464:G:C
                  Gene:
                  CSPP1 (Varview), LOC124901956 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000008.11:g.67164465G>C, NC_000008.10:g.68076700G>C, NG_034100.1:g.105098G>C, NM_024790.6:c.2770G>C, NM_001363131.2:c.2704G>C, NM_001363131.1:c.2704G>C, NM_001291339.2:c.1735G>C, NM_001291339.1:c.1735G>C, NM_001363132.2:c.2590G>C, NM_001363132.1:c.2590G>C, NM_001363133.2:c.2509G>C, NM_001363133.1:c.2509G>C, NM_001382391.1:c.2785G>C, NM_001364869.1:c.2851G>C, NM_001364870.1:c.2671G>C, XM_005251305.5:c.2875G>C, XM_005251305.4:c.3013G>C, XM_005251305.3:c.3013G>C, XM_005251305.2:c.2875G>C, XM_005251305.1:c.2875G>C, XM_006716474.4:c.2722G>C, XM_006716474.3:c.2860G>C, XM_006716474.2:c.2860G>C, XM_006716474.1:c.2722G>C, XM_006716477.4:c.2344G>C, XM_006716477.3:c.2482G>C, XM_006716477.2:c.2482G>C, XM_006716477.1:c.2344G>C, XM_011517611.4:c.1090G>C, XM_011517611.3:c.1090G>C, XM_011517611.2:c.1090G>C, XM_011517611.1:c.1090G>C, XM_011517598.3:c.2917G>C, XM_011517598.2:c.3055G>C, XM_011517598.1:c.3055G>C, XM_011517599.3:c.2893G>C, XM_011517599.2:c.3031G>C, XM_011517599.1:c.3031G>C, XM_011517601.3:c.2812G>C, XM_011517601.2:c.2950G>C, XM_011517601.1:c.2950G>C, XM_017013847.3:c.2776G>C, XM_017013847.2:c.2914G>C, XM_017013847.1:c.2914G>C, XM_017013849.3:c.2713G>C, XM_017013849.2:c.2851G>C, XM_017013849.1:c.2851G>C, XM_017013854.3:c.2320G>C, XM_017013854.2:c.2458G>C, XM_017013854.1:c.2458G>C, XM_047422251.1:c.2806G>C, XM_047422262.1:c.1888G>C, XM_047422244.1:c.2818G>C, XM_047422253.1:c.2917G>C, XM_047422245.1:c.2764G>C, XM_047422246.1:c.2752G>C, XM_047422254.1:c.2875G>C, XM_047422249.1:c.2698G>C, XM_047422256.1:c.2770G>C, XM_047422257.1:c.2764G>C, XM_047422252.1:c.2617G>C, NM_001077204.1:c.2875G>C, XM_047422255.1:c.2518G>C, XM_047422259.1:c.2239G>C, XM_047422260.1:c.2167G>C, XM_047422261.1:c.2086G>C, XM_047422247.1:c.2917G>C, XM_047422250.1:c.2917G>C, XM_047422258.1:c.2917G>C, NP_079066.5:p.Glu924Gln, NP_001350060.1:p.Glu902Gln, NP_001278268.1:p.Glu579Gln, NP_001350061.1:p.Glu864Gln, NP_001350062.1:p.Glu837Gln, NP_001369320.1:p.Glu929Gln, NP_001351798.1:p.Glu951Gln, NP_001351799.1:p.Glu891Gln, XP_005251362.3:p.Glu959Gln, XP_006716537.3:p.Glu908Gln, XP_006716540.3:p.Glu782Gln, XP_011515913.1:p.Glu364Gln, XP_011515900.2:p.Glu973Gln, XP_011515901.2:p.Glu965Gln, XP_011515903.2:p.Glu938Gln, XP_016869336.2:p.Glu926Gln, XP_016869338.2:p.Glu905Gln, XP_016869343.2:p.Glu774Gln, XP_047278207.1:p.Glu936Gln, XP_047278218.1:p.Glu630Gln, XP_047278200.1:p.Glu940Gln, XP_047278209.1:p.Glu973Gln, XP_047278201.1:p.Glu922Gln, XP_047278202.1:p.Glu918Gln, XP_047278210.1:p.Glu959Gln, XP_047278205.1:p.Glu900Gln, XP_047278212.1:p.Glu924Gln, XP_047278213.1:p.Glu922Gln, XP_047278208.1:p.Glu873Gln, XP_047278211.1:p.Glu840Gln, XP_047278215.1:p.Glu747Gln, XP_047278216.1:p.Glu723Gln, XP_047278217.1:p.Glu696Gln, XP_047278203.1:p.Glu973Gln, XP_047278206.1:p.Glu973Gln, XP_047278214.1:p.Glu973Gln

                  9.

                  rs1485988901 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    8:67159013 (GRCh38)
                    8:68071248 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:67159012:A:G,NC_000008.11:67159012:A:T
                    Gene:
                    CSPP1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000008.11:g.67159013A>G, NC_000008.11:g.67159013A>T, NC_000008.10:g.68071248A>G, NC_000008.10:g.68071248A>T, NG_034100.1:g.99646A>G, NG_034100.1:g.99646A>T, NM_024790.6:c.2399A>G, NM_024790.6:c.2399A>T, NM_001363131.2:c.2333A>G, NM_001363131.2:c.2333A>T, NM_001363131.1:c.2333A>G, NM_001363131.1:c.2333A>T, NM_001291339.2:c.1364A>G, NM_001291339.2:c.1364A>T, NM_001291339.1:c.1364A>G, NM_001291339.1:c.1364A>T, NM_001363132.2:c.2219A>G, NM_001363132.2:c.2219A>T, NM_001363132.1:c.2219A>G, NM_001363132.1:c.2219A>T, NM_001363133.2:c.2138A>G, NM_001363133.2:c.2138A>T, NM_001363133.1:c.2138A>G, NM_001363133.1:c.2138A>T, NM_001382391.1:c.2414A>G, NM_001382391.1:c.2414A>T, NM_001364869.1:c.2480A>G, NM_001364869.1:c.2480A>T, NM_001364870.1:c.2300A>G, NM_001364870.1:c.2300A>T, XM_005251305.5:c.2504A>G, XM_005251305.5:c.2504A>T, XM_005251305.4:c.2642A>G, XM_005251305.4:c.2642A>T, XM_005251305.3:c.2642A>G, XM_005251305.3:c.2642A>T, XM_005251305.2:c.2504A>G, XM_005251305.2:c.2504A>T, XM_005251305.1:c.2504A>G, XM_005251305.1:c.2504A>T, XM_006716474.4:c.2351A>G, XM_006716474.4:c.2351A>T, XM_006716474.3:c.2489A>G, XM_006716474.3:c.2489A>T, XM_006716474.2:c.2489A>G, XM_006716474.2:c.2489A>T, XM_006716474.1:c.2351A>G, XM_006716474.1:c.2351A>T, XM_006716477.4:c.1973A>G, XM_006716477.4:c.1973A>T, XM_006716477.3:c.2111A>G, XM_006716477.3:c.2111A>T, XM_006716477.2:c.2111A>G, XM_006716477.2:c.2111A>T, XM_006716477.1:c.1973A>G, XM_006716477.1:c.1973A>T, XM_011517611.4:c.719A>G, XM_011517611.4:c.719A>T, XM_011517611.3:c.719A>G, XM_011517611.3:c.719A>T, XM_011517611.2:c.719A>G, XM_011517611.2:c.719A>T, XM_011517611.1:c.719A>G, XM_011517611.1:c.719A>T, XM_011517598.3:c.2546A>G, XM_011517598.3:c.2546A>T, XM_011517598.2:c.2684A>G, XM_011517598.2:c.2684A>T, XM_011517598.1:c.2684A>G, XM_011517598.1:c.2684A>T, XM_011517599.3:c.2522A>G, XM_011517599.3:c.2522A>T, XM_011517599.2:c.2660A>G, XM_011517599.2:c.2660A>T, XM_011517599.1:c.2660A>G, XM_011517599.1:c.2660A>T, XM_011517601.3:c.2441A>G, XM_011517601.3:c.2441A>T, XM_011517601.2:c.2579A>G, XM_011517601.2:c.2579A>T, XM_011517601.1:c.2579A>G, XM_011517601.1:c.2579A>T, XM_017013847.3:c.2405A>G, XM_017013847.3:c.2405A>T, XM_017013847.2:c.2543A>G, XM_017013847.2:c.2543A>T, XM_017013847.1:c.2543A>G, XM_017013847.1:c.2543A>T, XM_017013849.3:c.2342A>G, XM_017013849.3:c.2342A>T, XM_017013849.2:c.2480A>G, XM_017013849.2:c.2480A>T, XM_017013849.1:c.2480A>G, XM_017013849.1:c.2480A>T, XM_017013854.3:c.1949A>G, XM_017013854.3:c.1949A>T, XM_017013854.2:c.2087A>G, XM_017013854.2:c.2087A>T, XM_017013854.1:c.2087A>G, XM_017013854.1:c.2087A>T, XM_047422251.1:c.2435A>G, XM_047422251.1:c.2435A>T, XM_047422262.1:c.1517A>G, XM_047422262.1:c.1517A>T, XM_047422244.1:c.2447A>G, XM_047422244.1:c.2447A>T, XM_047422253.1:c.2546A>G, XM_047422253.1:c.2546A>T, XM_047422245.1:c.2393A>G, XM_047422245.1:c.2393A>T, XM_047422246.1:c.2381A>G, XM_047422246.1:c.2381A>T, XM_047422254.1:c.2504A>G, XM_047422254.1:c.2504A>T, XM_047422249.1:c.2327A>G, XM_047422249.1:c.2327A>T, XM_047422256.1:c.2399A>G, XM_047422256.1:c.2399A>T, XM_047422257.1:c.2393A>G, XM_047422257.1:c.2393A>T, XM_047422252.1:c.2246A>G, XM_047422252.1:c.2246A>T, NM_001077204.1:c.2504A>G, NM_001077204.1:c.2504A>T, XM_047422255.1:c.2147A>G, XM_047422255.1:c.2147A>T, XM_047422259.1:c.1868A>G, XM_047422259.1:c.1868A>T, XM_047422260.1:c.1796A>G, XM_047422260.1:c.1796A>T, XM_047422261.1:c.1715A>G, XM_047422261.1:c.1715A>T, XM_047422247.1:c.2546A>G, XM_047422247.1:c.2546A>T, XM_047422250.1:c.2546A>G, XM_047422250.1:c.2546A>T, XM_047422258.1:c.2546A>G, XM_047422258.1:c.2546A>T, NP_079066.5:p.His800Arg, NP_079066.5:p.His800Leu, NP_001350060.1:p.His778Arg, NP_001350060.1:p.His778Leu, NP_001278268.1:p.His455Arg, NP_001278268.1:p.His455Leu, NP_001350061.1:p.His740Arg, NP_001350061.1:p.His740Leu, NP_001350062.1:p.His713Arg, NP_001350062.1:p.His713Leu, NP_001369320.1:p.His805Arg, NP_001369320.1:p.His805Leu, NP_001351798.1:p.His827Arg, NP_001351798.1:p.His827Leu, NP_001351799.1:p.His767Arg, NP_001351799.1:p.His767Leu, XP_005251362.3:p.His835Arg, XP_005251362.3:p.His835Leu, XP_006716537.3:p.His784Arg, XP_006716537.3:p.His784Leu, XP_006716540.3:p.His658Arg, XP_006716540.3:p.His658Leu, XP_011515913.1:p.His240Arg, XP_011515913.1:p.His240Leu, XP_011515900.2:p.His849Arg, XP_011515900.2:p.His849Leu, XP_011515901.2:p.His841Arg, XP_011515901.2:p.His841Leu, XP_011515903.2:p.His814Arg, XP_011515903.2:p.His814Leu, XP_016869336.2:p.His802Arg, XP_016869336.2:p.His802Leu, XP_016869338.2:p.His781Arg, XP_016869338.2:p.His781Leu, XP_016869343.2:p.His650Arg, XP_016869343.2:p.His650Leu, XP_047278207.1:p.His812Arg, XP_047278207.1:p.His812Leu, XP_047278218.1:p.His506Arg, XP_047278218.1:p.His506Leu, XP_047278200.1:p.His816Arg, XP_047278200.1:p.His816Leu, XP_047278209.1:p.His849Arg, XP_047278209.1:p.His849Leu, XP_047278201.1:p.His798Arg, XP_047278201.1:p.His798Leu, XP_047278202.1:p.His794Arg, XP_047278202.1:p.His794Leu, XP_047278210.1:p.His835Arg, XP_047278210.1:p.His835Leu, XP_047278205.1:p.His776Arg, XP_047278205.1:p.His776Leu, XP_047278212.1:p.His800Arg, XP_047278212.1:p.His800Leu, XP_047278213.1:p.His798Arg, XP_047278213.1:p.His798Leu, XP_047278208.1:p.His749Arg, XP_047278208.1:p.His749Leu, XP_047278211.1:p.His716Arg, XP_047278211.1:p.His716Leu, XP_047278215.1:p.His623Arg, XP_047278215.1:p.His623Leu, XP_047278216.1:p.His599Arg, XP_047278216.1:p.His599Leu, XP_047278217.1:p.His572Arg, XP_047278217.1:p.His572Leu, XP_047278203.1:p.His849Arg, XP_047278203.1:p.His849Leu, XP_047278206.1:p.His849Arg, XP_047278206.1:p.His849Leu, XP_047278214.1:p.His849Arg, XP_047278214.1:p.His849Leu

                    10.

                    rs1485452225 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:67103093 (GRCh38)
                      8:68015328 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:67103092:T:C
                      Gene:
                      CSPP1 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.67103093T>C, NC_000008.10:g.68015328T>C, NG_034100.1:g.43726T>C, NM_024790.6:c.1007T>C, NM_001363131.2:c.899T>C, NM_001363131.1:c.899T>C, NM_001291339.2:c.125T>C, NM_001291339.1:c.125T>C, NM_001363132.2:c.980T>C, NM_001363132.1:c.980T>C, NM_001363133.2:c.899T>C, NM_001363133.1:c.899T>C, NM_001382391.1:c.980T>C, NM_001364869.1:c.1088T>C, XM_005251305.5:c.1112T>C, XM_005251305.4:c.1250T>C, XM_005251305.3:c.1250T>C, XM_005251305.2:c.1112T>C, XM_005251305.1:c.1112T>C, XM_006716474.4:c.1112T>C, XM_006716474.3:c.1250T>C, XM_006716474.2:c.1250T>C, XM_006716474.1:c.1112T>C, XM_011517598.3:c.1112T>C, XM_011517598.2:c.1250T>C, XM_011517598.1:c.1250T>C, XM_011517599.3:c.1088T>C, XM_011517599.2:c.1226T>C, XM_011517599.1:c.1226T>C, XM_011517601.3:c.1007T>C, XM_011517601.2:c.1145T>C, XM_011517601.1:c.1145T>C, XM_047422251.1:c.1043T>C, XM_047422262.1:c.125T>C, XM_047422253.1:c.1112T>C, XM_047422245.1:c.1112T>C, XM_047422254.1:c.1112T>C, XM_047422249.1:c.1088T>C, XM_047422256.1:c.1007T>C, XM_047422257.1:c.1112T>C, XM_047422252.1:c.1007T>C, NM_001077204.1:c.1112T>C, XM_047422247.1:c.1112T>C, XM_047422250.1:c.1112T>C, XM_047422258.1:c.1112T>C, NP_079066.5:p.Ile336Thr, NP_001350060.1:p.Ile300Thr, NP_001278268.1:p.Ile42Thr, NP_001350061.1:p.Ile327Thr, NP_001350062.1:p.Ile300Thr, NP_001369320.1:p.Ile327Thr, NP_001351798.1:p.Ile363Thr, XP_005251362.3:p.Ile371Thr, XP_006716537.3:p.Ile371Thr, XP_011515900.2:p.Ile371Thr, XP_011515901.2:p.Ile363Thr, XP_011515903.2:p.Ile336Thr, XP_047278207.1:p.Ile348Thr, XP_047278218.1:p.Ile42Thr, XP_047278209.1:p.Ile371Thr, XP_047278201.1:p.Ile371Thr, XP_047278210.1:p.Ile371Thr, XP_047278205.1:p.Ile363Thr, XP_047278212.1:p.Ile336Thr, XP_047278213.1:p.Ile371Thr, XP_047278208.1:p.Ile336Thr, XP_047278203.1:p.Ile371Thr, XP_047278206.1:p.Ile371Thr, XP_047278214.1:p.Ile371Thr

                      11.

                      rs1484918109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        8:67159132 (GRCh38)
                        8:68071367 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:67159131:A:T
                        Gene:
                        CSPP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.67159132A>T, NC_000008.10:g.68071367A>T, NG_034100.1:g.99765A>T, NM_024790.6:c.2518A>T, NM_001363131.2:c.2452A>T, NM_001363131.1:c.2452A>T, NM_001291339.2:c.1483A>T, NM_001291339.1:c.1483A>T, NM_001363132.2:c.2338A>T, NM_001363132.1:c.2338A>T, NM_001363133.2:c.2257A>T, NM_001363133.1:c.2257A>T, NM_001382391.1:c.2533A>T, NM_001364869.1:c.2599A>T, NM_001364870.1:c.2419A>T, XM_005251305.5:c.2623A>T, XM_005251305.4:c.2761A>T, XM_005251305.3:c.2761A>T, XM_005251305.2:c.2623A>T, XM_005251305.1:c.2623A>T, XM_006716474.4:c.2470A>T, XM_006716474.3:c.2608A>T, XM_006716474.2:c.2608A>T, XM_006716474.1:c.2470A>T, XM_006716477.4:c.2092A>T, XM_006716477.3:c.2230A>T, XM_006716477.2:c.2230A>T, XM_006716477.1:c.2092A>T, XM_011517611.4:c.838A>T, XM_011517611.3:c.838A>T, XM_011517611.2:c.838A>T, XM_011517611.1:c.838A>T, XM_011517598.3:c.2665A>T, XM_011517598.2:c.2803A>T, XM_011517598.1:c.2803A>T, XM_011517599.3:c.2641A>T, XM_011517599.2:c.2779A>T, XM_011517599.1:c.2779A>T, XM_011517601.3:c.2560A>T, XM_011517601.2:c.2698A>T, XM_011517601.1:c.2698A>T, XM_017013847.3:c.2524A>T, XM_017013847.2:c.2662A>T, XM_017013847.1:c.2662A>T, XM_017013849.3:c.2461A>T, XM_017013849.2:c.2599A>T, XM_017013849.1:c.2599A>T, XM_017013854.3:c.2068A>T, XM_017013854.2:c.2206A>T, XM_017013854.1:c.2206A>T, XM_047422251.1:c.2554A>T, XM_047422262.1:c.1636A>T, XM_047422244.1:c.2566A>T, XM_047422253.1:c.2665A>T, XM_047422245.1:c.2512A>T, XM_047422246.1:c.2500A>T, XM_047422254.1:c.2623A>T, XM_047422249.1:c.2446A>T, XM_047422256.1:c.2518A>T, XM_047422257.1:c.2512A>T, XM_047422252.1:c.2365A>T, NM_001077204.1:c.2623A>T, XM_047422255.1:c.2266A>T, XM_047422259.1:c.1987A>T, XM_047422260.1:c.1915A>T, XM_047422261.1:c.1834A>T, XM_047422247.1:c.2665A>T, XM_047422250.1:c.2665A>T, XM_047422258.1:c.2665A>T, NP_079066.5:p.Thr840Ser, NP_001350060.1:p.Thr818Ser, NP_001278268.1:p.Thr495Ser, NP_001350061.1:p.Thr780Ser, NP_001350062.1:p.Thr753Ser, NP_001369320.1:p.Thr845Ser, NP_001351798.1:p.Thr867Ser, NP_001351799.1:p.Thr807Ser, XP_005251362.3:p.Thr875Ser, XP_006716537.3:p.Thr824Ser, XP_006716540.3:p.Thr698Ser, XP_011515913.1:p.Thr280Ser, XP_011515900.2:p.Thr889Ser, XP_011515901.2:p.Thr881Ser, XP_011515903.2:p.Thr854Ser, XP_016869336.2:p.Thr842Ser, XP_016869338.2:p.Thr821Ser, XP_016869343.2:p.Thr690Ser, XP_047278207.1:p.Thr852Ser, XP_047278218.1:p.Thr546Ser, XP_047278200.1:p.Thr856Ser, XP_047278209.1:p.Thr889Ser, XP_047278201.1:p.Thr838Ser, XP_047278202.1:p.Thr834Ser, XP_047278210.1:p.Thr875Ser, XP_047278205.1:p.Thr816Ser, XP_047278212.1:p.Thr840Ser, XP_047278213.1:p.Thr838Ser, XP_047278208.1:p.Thr789Ser, XP_047278211.1:p.Thr756Ser, XP_047278215.1:p.Thr663Ser, XP_047278216.1:p.Thr639Ser, XP_047278217.1:p.Thr612Ser, XP_047278203.1:p.Thr889Ser, XP_047278206.1:p.Thr889Ser, XP_047278214.1:p.Thr889Ser

                        12.

                        rs1484206051 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          8:67195734 (GRCh38)
                          8:68107969 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:67195733:A:G
                          Gene:
                          ARFGEF1 (Varview), CSPP1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.67195734A>G, NC_000008.10:g.68107969A>G, NG_034100.1:g.136367A>G, NM_024790.6:c.*141A>G, NM_001363131.2:c.*141A>G, NM_001363131.1:c.*141A>G, NM_001291339.2:c.*141A>G, NM_001291339.1:c.*141A>G, NM_001363132.2:c.*141A>G, NM_001363132.1:c.*141A>G, NM_001363133.2:c.*141A>G, NM_001363133.1:c.*141A>G, NM_001382391.1:c.*141A>G, NM_001364869.1:c.*141A>G, NM_001364870.1:c.*141A>G, XM_005251305.5:c.*141A>G, XM_005251305.4:c.*141A>G, XM_005251305.3:c.*141A>G, XM_005251305.2:c.*141A>G, XM_005251305.1:c.*141A>G, XM_006716474.4:c.*141A>G, XM_006716474.3:c.*141A>G, XM_006716474.2:c.*141A>G, XM_006716474.1:c.*141A>G, XM_006716477.4:c.*141A>G, XM_006716477.3:c.*141A>G, XM_006716477.2:c.*141A>G, XM_006716477.1:c.*141A>G, XM_011517611.4:c.*141A>G, XM_011517611.3:c.*141A>G, XM_011517611.2:c.*141A>G, XM_011517611.1:c.*141A>G, XM_011517598.3:c.*141A>G, XM_011517598.2:c.*141A>G, XM_011517598.1:c.*141A>G, XM_011517599.3:c.*141A>G, XM_011517599.2:c.*141A>G, XM_011517599.1:c.*141A>G, XM_011517601.3:c.*141A>G, XM_011517601.2:c.*141A>G, XM_011517601.1:c.*141A>G, XM_017013847.3:c.*141A>G, XM_017013847.2:c.*141A>G, XM_017013847.1:c.*141A>G, XM_017013849.3:c.*141A>G, XM_017013849.2:c.*141A>G, XM_017013849.1:c.*141A>G, XM_017013854.3:c.*141A>G, XM_017013854.2:c.*141A>G, XM_017013854.1:c.*141A>G, XM_047422251.1:c.*141A>G, XM_047422262.1:c.*141A>G, XM_047422244.1:c.*141A>G, XM_047422253.1:c.*314A>G, XM_047422245.1:c.*141A>G, XM_047422246.1:c.*141A>G, XM_047422254.1:c.*314A>G, XM_047422249.1:c.*141A>G, XM_047422256.1:c.*314A>G, XM_047422257.1:c.*314A>G, XM_047422252.1:c.*141A>G, NM_001077204.1:c.*141A>G, XM_047422255.1:c.*141A>G, XM_047422259.1:c.*141A>G, XM_047422260.1:c.*141A>G, XM_047422261.1:c.*141A>G

                          13.

                          rs1483917589 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            8:67196366 (GRCh38)
                            8:68108601 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:67196365:CC:C
                            Gene:
                            ARFGEF1 (Varview), CSPP1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            CC=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000008.11:g.67196367del, NC_000008.10:g.68108602del, NG_034100.1:g.137000del, NM_024790.6:c.*774del, NM_001363131.2:c.*774del, NM_001363131.1:c.*774del, NM_001291339.2:c.*774del, NM_001291339.1:c.*774del, NM_001363132.2:c.*774del, NM_001363132.1:c.*774del, NM_001363133.2:c.*774del, NM_001363133.1:c.*774del, NM_001382391.1:c.*774del, NM_001364869.1:c.*774del, NM_001364870.1:c.*774del, XM_005251305.5:c.*774del, XM_005251305.4:c.*774del, XM_005251305.3:c.*774del, XM_005251305.2:c.*774del, XM_005251305.1:c.*774del, XM_006716474.4:c.*774del, XM_006716474.3:c.*774del, XM_006716474.2:c.*774del, XM_006716474.1:c.*774del, XM_006716477.4:c.*774del, XM_006716477.3:c.*774del, XM_006716477.2:c.*774del, XM_006716477.1:c.*774del, XM_011517611.4:c.*774del, XM_011517611.3:c.*774del, XM_011517611.2:c.*774del, XM_011517611.1:c.*774del, XM_011517598.3:c.*774del, XM_011517598.2:c.*774del, XM_011517598.1:c.*774del, XM_011517599.3:c.*774del, XM_011517599.2:c.*774del, XM_011517599.1:c.*774del, XM_011517601.3:c.*774del, XM_011517601.2:c.*774del, XM_011517601.1:c.*774del, XM_017013847.3:c.*774del, XM_017013847.2:c.*774del, XM_017013847.1:c.*774del, XM_017013849.3:c.*774del, XM_017013849.2:c.*774del, XM_017013849.1:c.*774del, XM_017013854.3:c.*774del, XM_017013854.2:c.*774del, XM_017013854.1:c.*774del, XM_047422251.1:c.*774del, XM_047422262.1:c.*774del, XM_047422244.1:c.*774del, XM_047422253.1:c.*947del, XM_047422245.1:c.*774del, XM_047422246.1:c.*774del, XM_047422254.1:c.*947del, XM_047422249.1:c.*774del, XM_047422256.1:c.*947del, XM_047422257.1:c.*947del, XM_047422252.1:c.*774del, XM_047422255.1:c.*774del, XM_047422259.1:c.*774del, XM_047422260.1:c.*774del, XM_047422261.1:c.*774del

                            14.

                            rs1483713713 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              8:67195889 (GRCh38)
                              8:68108124 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:67195888:G:C,NC_000008.11:67195888:G:T
                              Gene:
                              ARFGEF1 (Varview), CSPP1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000008.11:g.67195889G>C, NC_000008.11:g.67195889G>T, NC_000008.10:g.68108124G>C, NC_000008.10:g.68108124G>T, NG_034100.1:g.136522G>C, NG_034100.1:g.136522G>T, NM_024790.6:c.*296G>C, NM_024790.6:c.*296G>T, NM_001363131.2:c.*296G>C, NM_001363131.2:c.*296G>T, NM_001363131.1:c.*296G>C, NM_001363131.1:c.*296G>T, NM_001291339.2:c.*296G>C, NM_001291339.2:c.*296G>T, NM_001291339.1:c.*296G>C, NM_001291339.1:c.*296G>T, NM_001363132.2:c.*296G>C, NM_001363132.2:c.*296G>T, NM_001363132.1:c.*296G>C, NM_001363132.1:c.*296G>T, NM_001363133.2:c.*296G>C, NM_001363133.2:c.*296G>T, NM_001363133.1:c.*296G>C, NM_001363133.1:c.*296G>T, NM_001382391.1:c.*296G>C, NM_001382391.1:c.*296G>T, NM_001364869.1:c.*296G>C, NM_001364869.1:c.*296G>T, NM_001364870.1:c.*296G>C, NM_001364870.1:c.*296G>T, XM_005251305.5:c.*296G>C, XM_005251305.5:c.*296G>T, XM_005251305.4:c.*296G>C, XM_005251305.4:c.*296G>T, XM_005251305.3:c.*296G>C, XM_005251305.3:c.*296G>T, XM_005251305.2:c.*296G>C, XM_005251305.2:c.*296G>T, XM_005251305.1:c.*296G>C, XM_005251305.1:c.*296G>T, XM_006716474.4:c.*296G>C, XM_006716474.4:c.*296G>T, XM_006716474.3:c.*296G>C, XM_006716474.3:c.*296G>T, XM_006716474.2:c.*296G>C, XM_006716474.2:c.*296G>T, XM_006716474.1:c.*296G>C, XM_006716474.1:c.*296G>T, XM_006716477.4:c.*296G>C, XM_006716477.4:c.*296G>T, XM_006716477.3:c.*296G>C, XM_006716477.3:c.*296G>T, XM_006716477.2:c.*296G>C, XM_006716477.2:c.*296G>T, XM_006716477.1:c.*296G>C, XM_006716477.1:c.*296G>T, XM_011517611.4:c.*296G>C, XM_011517611.4:c.*296G>T, XM_011517611.3:c.*296G>C, XM_011517611.3:c.*296G>T, XM_011517611.2:c.*296G>C, XM_011517611.2:c.*296G>T, XM_011517611.1:c.*296G>C, XM_011517611.1:c.*296G>T, XM_011517598.3:c.*296G>C, XM_011517598.3:c.*296G>T, XM_011517598.2:c.*296G>C, XM_011517598.2:c.*296G>T, XM_011517598.1:c.*296G>C, XM_011517598.1:c.*296G>T, XM_011517599.3:c.*296G>C, XM_011517599.3:c.*296G>T, XM_011517599.2:c.*296G>C, XM_011517599.2:c.*296G>T, XM_011517599.1:c.*296G>C, XM_011517599.1:c.*296G>T, XM_011517601.3:c.*296G>C, XM_011517601.3:c.*296G>T, XM_011517601.2:c.*296G>C, XM_011517601.2:c.*296G>T, XM_011517601.1:c.*296G>C, XM_011517601.1:c.*296G>T, XM_017013847.3:c.*296G>C, XM_017013847.3:c.*296G>T, XM_017013847.2:c.*296G>C, XM_017013847.2:c.*296G>T, XM_017013847.1:c.*296G>C, XM_017013847.1:c.*296G>T, XM_017013849.3:c.*296G>C, XM_017013849.3:c.*296G>T, XM_017013849.2:c.*296G>C, XM_017013849.2:c.*296G>T, XM_017013849.1:c.*296G>C, XM_017013849.1:c.*296G>T, XM_017013854.3:c.*296G>C, XM_017013854.3:c.*296G>T, XM_017013854.2:c.*296G>C, XM_017013854.2:c.*296G>T, XM_017013854.1:c.*296G>C, XM_017013854.1:c.*296G>T, XM_047422251.1:c.*296G>C, XM_047422251.1:c.*296G>T, XM_047422262.1:c.*296G>C, XM_047422262.1:c.*296G>T, XM_047422244.1:c.*296G>C, XM_047422244.1:c.*296G>T, XM_047422253.1:c.*469G>C, XM_047422253.1:c.*469G>T, XM_047422245.1:c.*296G>C, XM_047422245.1:c.*296G>T, XM_047422246.1:c.*296G>C, XM_047422246.1:c.*296G>T, XM_047422254.1:c.*469G>C, XM_047422254.1:c.*469G>T, XM_047422249.1:c.*296G>C, XM_047422249.1:c.*296G>T, XM_047422256.1:c.*469G>C, XM_047422256.1:c.*469G>T, XM_047422257.1:c.*469G>C, XM_047422257.1:c.*469G>T, XM_047422252.1:c.*296G>C, XM_047422252.1:c.*296G>T, NM_001077204.1:c.*296G>C, NM_001077204.1:c.*296G>T, XM_047422255.1:c.*296G>C, XM_047422255.1:c.*296G>T, XM_047422259.1:c.*296G>C, XM_047422259.1:c.*296G>T, XM_047422260.1:c.*296G>C, XM_047422260.1:c.*296G>T, XM_047422261.1:c.*296G>C, XM_047422261.1:c.*296G>T

                              15.

                              rs1483232787 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->GTCA [Show Flanks]
                                Chromosome:
                                8:67196443 (GRCh38)
                                8:68108679 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:67196443:AGTCA:AGTCAGTCA
                                Gene:
                                ARFGEF1 (Varview), CSPP1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGTCAGTCA=0.000071/1 (ALFA)
                                AGTC=0.000021/3 (GnomAD)
                                AGTC=0.00003/8 (TOPMED)
                                AGTC=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000008.11:g.67196445_67196448dup, NC_000008.10:g.68108680_68108683dup, NG_034100.1:g.137078_137081dup, NM_024790.6:c.*852_*855dup, NM_001363131.2:c.*852_*855dup, NM_001363131.1:c.*852_*855dup, NM_001291339.2:c.*852_*855dup, NM_001291339.1:c.*852_*855dup, NM_001363132.2:c.*852_*855dup, NM_001363132.1:c.*852_*855dup, NM_001363133.2:c.*852_*855dup, NM_001363133.1:c.*852_*855dup, NM_001382391.1:c.*852_*855dup, NM_001364869.1:c.*852_*855dup, NM_001364870.1:c.*852_*855dup, XM_005251305.5:c.*852_*855dup, XM_005251305.4:c.*852_*855dup, XM_005251305.3:c.*852_*855dup, XM_005251305.2:c.*852_*855dup, XM_005251305.1:c.*852_*855dup, XM_006716474.4:c.*852_*855dup, XM_006716474.3:c.*852_*855dup, XM_006716474.2:c.*852_*855dup, XM_006716474.1:c.*852_*855dup, XM_006716477.4:c.*852_*855dup, XM_006716477.3:c.*852_*855dup, XM_006716477.2:c.*852_*855dup, XM_006716477.1:c.*852_*855dup, XM_011517611.4:c.*852_*855dup, XM_011517611.3:c.*852_*855dup, XM_011517611.2:c.*852_*855dup, XM_011517611.1:c.*852_*855dup, XM_011517598.3:c.*852_*855dup, XM_011517598.2:c.*852_*855dup, XM_011517598.1:c.*852_*855dup, XM_011517599.3:c.*852_*855dup, XM_011517599.2:c.*852_*855dup, XM_011517599.1:c.*852_*855dup, XM_011517601.3:c.*852_*855dup, XM_011517601.2:c.*852_*855dup, XM_011517601.1:c.*852_*855dup, XM_017013847.3:c.*852_*855dup, XM_017013847.2:c.*852_*855dup, XM_017013847.1:c.*852_*855dup, XM_017013849.3:c.*852_*855dup, XM_017013849.2:c.*852_*855dup, XM_017013849.1:c.*852_*855dup, XM_017013854.3:c.*852_*855dup, XM_017013854.2:c.*852_*855dup, XM_017013854.1:c.*852_*855dup, XM_047422251.1:c.*852_*855dup, XM_047422262.1:c.*852_*855dup, XM_047422244.1:c.*852_*855dup, XM_047422253.1:c.*1025_*1028dup, XM_047422245.1:c.*852_*855dup, XM_047422246.1:c.*852_*855dup, XM_047422254.1:c.*1025_*1028dup, XM_047422249.1:c.*852_*855dup, XM_047422256.1:c.*1025_*1028dup, XM_047422257.1:c.*1025_*1028dup, XM_047422252.1:c.*852_*855dup, XM_047422255.1:c.*852_*855dup, XM_047422259.1:c.*852_*855dup, XM_047422260.1:c.*852_*855dup, XM_047422261.1:c.*852_*855dup

                                16.

                                rs1483023077 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  8:67095338 (GRCh38)
                                  8:68007573 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:67095337:G:C
                                  Gene:
                                  CSPP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.67095338G>C, NC_000008.10:g.68007573G>C, NG_034100.1:g.35971G>C, NM_024790.6:c.556G>C, NM_001363131.2:c.448G>C, NM_001363131.1:c.448G>C, NM_001291339.2:c.-327G>C, NM_001291339.1:c.-327G>C, NM_001363132.2:c.529G>C, NM_001363132.1:c.529G>C, NM_001363133.2:c.448G>C, NM_001363133.1:c.448G>C, NM_001382391.1:c.529G>C, NM_001364869.1:c.637G>C, NM_001364870.1:c.556G>C, XM_005251305.5:c.661G>C, XM_005251305.4:c.799G>C, XM_005251305.3:c.799G>C, XM_005251305.2:c.661G>C, XM_005251305.1:c.661G>C, XM_006716474.4:c.661G>C, XM_006716474.3:c.799G>C, XM_006716474.2:c.799G>C, XM_006716474.1:c.661G>C, XM_006716477.4:c.661G>C, XM_006716477.3:c.799G>C, XM_006716477.2:c.799G>C, XM_006716477.1:c.661G>C, XM_011517598.3:c.661G>C, XM_011517598.2:c.799G>C, XM_011517598.1:c.799G>C, XM_011517599.3:c.637G>C, XM_011517599.2:c.775G>C, XM_011517599.1:c.775G>C, XM_011517601.3:c.556G>C, XM_011517601.2:c.694G>C, XM_011517601.1:c.694G>C, XM_017013847.3:c.661G>C, XM_017013847.2:c.799G>C, XM_017013847.1:c.799G>C, XM_017013849.3:c.556G>C, XM_017013849.2:c.694G>C, XM_017013849.1:c.694G>C, XM_017013854.3:c.637G>C, XM_017013854.2:c.775G>C, XM_017013854.1:c.775G>C, XM_047422251.1:c.592G>C, XM_047422262.1:c.-327G>C, XM_047422244.1:c.661G>C, XM_047422253.1:c.661G>C, XM_047422245.1:c.661G>C, XM_047422246.1:c.637G>C, XM_047422254.1:c.661G>C, XM_047422249.1:c.637G>C, XM_047422256.1:c.556G>C, XM_047422257.1:c.661G>C, XM_047422252.1:c.556G>C, NM_001077204.1:c.661G>C, XM_047422255.1:c.556G>C, XM_047422259.1:c.556G>C, XM_047422260.1:c.637G>C, XM_047422261.1:c.556G>C, XM_047422247.1:c.661G>C, XM_047422250.1:c.661G>C, XM_047422258.1:c.661G>C, NP_079066.5:p.Asp186His, NP_001350060.1:p.Asp150His, NP_001350061.1:p.Asp177His, NP_001350062.1:p.Asp150His, NP_001369320.1:p.Asp177His, NP_001351798.1:p.Asp213His, NP_001351799.1:p.Asp186His, XP_005251362.3:p.Asp221His, XP_006716537.3:p.Asp221His, XP_006716540.3:p.Asp221His, XP_011515900.2:p.Asp221His, XP_011515901.2:p.Asp213His, XP_011515903.2:p.Asp186His, XP_016869336.2:p.Asp221His, XP_016869338.2:p.Asp186His, XP_016869343.2:p.Asp213His, XP_047278207.1:p.Asp198His, XP_047278200.1:p.Asp221His, XP_047278209.1:p.Asp221His, XP_047278201.1:p.Asp221His, XP_047278202.1:p.Asp213His, XP_047278210.1:p.Asp221His, XP_047278205.1:p.Asp213His, XP_047278212.1:p.Asp186His, XP_047278213.1:p.Asp221His, XP_047278208.1:p.Asp186His, XP_047278211.1:p.Asp186His, XP_047278215.1:p.Asp186His, XP_047278216.1:p.Asp213His, XP_047278217.1:p.Asp186His, XP_047278203.1:p.Asp221His, XP_047278206.1:p.Asp221His, XP_047278214.1:p.Asp221His

                                  17.

                                  rs1481595122 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:67196561 (GRCh38)
                                    8:68108796 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:67196560:G:A
                                    Gene:
                                    ARFGEF1 (Varview), CSPP1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.00003/8 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.67196561G>A, NC_000008.10:g.68108796G>A, NG_034100.1:g.137194G>A, NM_024790.6:c.*968G>A, NM_001363131.2:c.*968G>A, NM_001363131.1:c.*968G>A, NM_001291339.2:c.*968G>A, NM_001291339.1:c.*968G>A, NM_001363132.2:c.*968G>A, NM_001363132.1:c.*968G>A, NM_001363133.2:c.*968G>A, NM_001363133.1:c.*968G>A, NM_001382391.1:c.*968G>A, NM_001364869.1:c.*968G>A, NM_001364870.1:c.*968G>A, XM_005251305.5:c.*968G>A, XM_005251305.4:c.*968G>A, XM_005251305.3:c.*968G>A, XM_005251305.2:c.*968G>A, XM_005251305.1:c.*968G>A, XM_006716474.4:c.*968G>A, XM_006716474.3:c.*968G>A, XM_006716474.2:c.*968G>A, XM_006716474.1:c.*968G>A, XM_006716477.4:c.*968G>A, XM_006716477.3:c.*968G>A, XM_006716477.2:c.*968G>A, XM_006716477.1:c.*968G>A, XM_011517611.4:c.*968G>A, XM_011517611.3:c.*968G>A, XM_011517611.2:c.*968G>A, XM_011517611.1:c.*968G>A, XM_011517598.3:c.*968G>A, XM_011517598.2:c.*968G>A, XM_011517598.1:c.*968G>A, XM_011517599.3:c.*968G>A, XM_011517599.2:c.*968G>A, XM_011517599.1:c.*968G>A, XM_011517601.3:c.*968G>A, XM_011517601.2:c.*968G>A, XM_011517601.1:c.*968G>A, XM_017013847.3:c.*968G>A, XM_017013847.2:c.*968G>A, XM_017013847.1:c.*968G>A, XM_017013849.3:c.*968G>A, XM_017013849.2:c.*968G>A, XM_017013849.1:c.*968G>A, XM_017013854.3:c.*968G>A, XM_017013854.2:c.*968G>A, XM_017013854.1:c.*968G>A, XM_047422251.1:c.*968G>A, XM_047422262.1:c.*968G>A, XM_047422244.1:c.*968G>A, XM_047422253.1:c.*1141G>A, XM_047422245.1:c.*968G>A, XM_047422246.1:c.*968G>A, XM_047422254.1:c.*1141G>A, XM_047422249.1:c.*968G>A, XM_047422256.1:c.*1141G>A, XM_047422257.1:c.*1141G>A, XM_047422252.1:c.*968G>A, XM_047422255.1:c.*968G>A, XM_047422259.1:c.*968G>A, XM_047422260.1:c.*968G>A, XM_047422261.1:c.*968G>A

                                    18.

                                    rs1481133590 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>- [Show Flanks]
                                      Chromosome:
                                      8:67196441 (GRCh38)
                                      8:68108676 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:67196439:AAA:A
                                      Gene:
                                      ARFGEF1 (Varview), CSPP1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.67196441_67196442del, NC_000008.10:g.68108676_68108677del, NG_034100.1:g.137074_137075del, NM_024790.6:c.*848_*849del, NM_001363131.2:c.*848_*849del, NM_001363131.1:c.*848_*849del, NM_001291339.2:c.*848_*849del, NM_001291339.1:c.*848_*849del, NM_001363132.2:c.*848_*849del, NM_001363132.1:c.*848_*849del, NM_001363133.2:c.*848_*849del, NM_001363133.1:c.*848_*849del, NM_001382391.1:c.*848_*849del, NM_001364869.1:c.*848_*849del, NM_001364870.1:c.*848_*849del, XM_005251305.5:c.*848_*849del, XM_005251305.4:c.*848_*849del, XM_005251305.3:c.*848_*849del, XM_005251305.2:c.*848_*849del, XM_005251305.1:c.*848_*849del, XM_006716474.4:c.*848_*849del, XM_006716474.3:c.*848_*849del, XM_006716474.2:c.*848_*849del, XM_006716474.1:c.*848_*849del, XM_006716477.4:c.*848_*849del, XM_006716477.3:c.*848_*849del, XM_006716477.2:c.*848_*849del, XM_006716477.1:c.*848_*849del, XM_011517611.4:c.*848_*849del, XM_011517611.3:c.*848_*849del, XM_011517611.2:c.*848_*849del, XM_011517611.1:c.*848_*849del, XM_011517598.3:c.*848_*849del, XM_011517598.2:c.*848_*849del, XM_011517598.1:c.*848_*849del, XM_011517599.3:c.*848_*849del, XM_011517599.2:c.*848_*849del, XM_011517599.1:c.*848_*849del, XM_011517601.3:c.*848_*849del, XM_011517601.2:c.*848_*849del, XM_011517601.1:c.*848_*849del, XM_017013847.3:c.*848_*849del, XM_017013847.2:c.*848_*849del, XM_017013847.1:c.*848_*849del, XM_017013849.3:c.*848_*849del, XM_017013849.2:c.*848_*849del, XM_017013849.1:c.*848_*849del, XM_017013854.3:c.*848_*849del, XM_017013854.2:c.*848_*849del, XM_017013854.1:c.*848_*849del, XM_047422251.1:c.*848_*849del, XM_047422262.1:c.*848_*849del, XM_047422244.1:c.*848_*849del, XM_047422253.1:c.*1021_*1022del, XM_047422245.1:c.*848_*849del, XM_047422246.1:c.*848_*849del, XM_047422254.1:c.*1021_*1022del, XM_047422249.1:c.*848_*849del, XM_047422256.1:c.*1021_*1022del, XM_047422257.1:c.*1021_*1022del, XM_047422252.1:c.*848_*849del, XM_047422255.1:c.*848_*849del, XM_047422259.1:c.*848_*849del, XM_047422260.1:c.*848_*849del, XM_047422261.1:c.*848_*849del

                                      19.

                                      rs1480181178 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:67175385 (GRCh38)
                                        8:68087620 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:67175384:A:G
                                        Gene:
                                        ARFGEF1 (Varview), CSPP1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.67175385A>G, NC_000008.10:g.68087620A>G, NG_034100.1:g.116018A>G, NM_024790.6:c.3043A>G, NM_001363131.2:c.2977A>G, NM_001363131.1:c.2977A>G, NM_001291339.2:c.2008A>G, NM_001291339.1:c.2008A>G, NM_001363132.2:c.2863A>G, NM_001363132.1:c.2863A>G, NM_001363133.2:c.2782A>G, NM_001363133.1:c.2782A>G, NM_001382391.1:c.3058A>G, NM_001364869.1:c.3124A>G, NM_001364870.1:c.2944A>G, XM_005251136.5:c.*170T>C, XM_005251136.4:c.*170T>C, XM_005251136.3:c.*170T>C, XM_005251136.2:c.*170T>C, XM_005251136.1:c.*170T>C, XM_005251305.5:c.3148A>G, XM_005251305.4:c.3286A>G, XM_005251305.3:c.3286A>G, XM_005251305.2:c.3148A>G, XM_005251305.1:c.3148A>G, XM_006716474.4:c.2995A>G, XM_006716474.3:c.3133A>G, XM_006716474.2:c.3133A>G, XM_006716474.1:c.2995A>G, XM_006716477.4:c.2617A>G, XM_006716477.3:c.2755A>G, XM_006716477.2:c.2755A>G, XM_006716477.1:c.2617A>G, XM_011517611.4:c.1363A>G, XM_011517611.3:c.1363A>G, XM_011517611.2:c.1363A>G, XM_011517611.1:c.1363A>G, XM_011517598.3:c.3190A>G, XM_011517598.2:c.3328A>G, XM_011517598.1:c.3328A>G, XM_011517599.3:c.3166A>G, XM_011517599.2:c.3304A>G, XM_011517599.1:c.3304A>G, XM_011517601.3:c.3085A>G, XM_011517601.2:c.3223A>G, XM_011517601.1:c.3223A>G, XM_017013847.3:c.3049A>G, XM_017013847.2:c.3187A>G, XM_017013847.1:c.3187A>G, XM_017013849.3:c.2986A>G, XM_017013849.2:c.3124A>G, XM_017013849.1:c.3124A>G, XM_017013854.3:c.2593A>G, XM_017013854.2:c.2731A>G, XM_017013854.1:c.2731A>G, XM_047421265.1:c.*170T>C, XM_047422251.1:c.3079A>G, XM_047422262.1:c.2161A>G, XM_047422244.1:c.3091A>G, XM_047422253.1:c.3190A>G, XM_047422245.1:c.3037A>G, XM_047422246.1:c.3025A>G, XM_047422254.1:c.3148A>G, XM_047422249.1:c.2971A>G, XM_047422256.1:c.3043A>G, XM_047422257.1:c.3037A>G, XM_047422252.1:c.2890A>G, NM_001077204.1:c.3148A>G, XM_047422255.1:c.2791A>G, XM_047422259.1:c.2512A>G, XM_047422260.1:c.2440A>G, XM_047422261.1:c.2359A>G, XM_047422247.1:c.3190A>G, XM_047422250.1:c.3190A>G, NP_079066.5:p.Arg1015Gly, NP_001350060.1:p.Arg993Gly, NP_001278268.1:p.Arg670Gly, NP_001350061.1:p.Arg955Gly, NP_001350062.1:p.Arg928Gly, NP_001369320.1:p.Arg1020Gly, NP_001351798.1:p.Arg1042Gly, NP_001351799.1:p.Arg982Gly, XP_005251362.3:p.Arg1050Gly, XP_006716537.3:p.Arg999Gly, XP_006716540.3:p.Arg873Gly, XP_011515913.1:p.Arg455Gly, XP_011515900.2:p.Arg1064Gly, XP_011515901.2:p.Arg1056Gly, XP_011515903.2:p.Arg1029Gly, XP_016869336.2:p.Arg1017Gly, XP_016869338.2:p.Arg996Gly, XP_016869343.2:p.Arg865Gly, XP_047278207.1:p.Arg1027Gly, XP_047278218.1:p.Arg721Gly, XP_047278200.1:p.Arg1031Gly, XP_047278209.1:p.Arg1064Gly, XP_047278201.1:p.Arg1013Gly, XP_047278202.1:p.Arg1009Gly, XP_047278210.1:p.Arg1050Gly, XP_047278205.1:p.Arg991Gly, XP_047278212.1:p.Arg1015Gly, XP_047278213.1:p.Arg1013Gly, XP_047278208.1:p.Arg964Gly, XP_047278211.1:p.Arg931Gly, XP_047278215.1:p.Arg838Gly, XP_047278216.1:p.Arg814Gly, XP_047278217.1:p.Arg787Gly, XP_047278203.1:p.Arg1064Gly, XP_047278206.1:p.Arg1064Gly

                                        20.

                                        rs1480057271 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          8:67172493 (GRCh38)
                                          8:68084728 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:67172492:C:G,NC_000008.11:67172492:C:T
                                          Gene:
                                          CSPP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.67172493C>G, NC_000008.11:g.67172493C>T, NC_000008.10:g.68084728C>G, NC_000008.10:g.68084728C>T, NG_034100.1:g.113126C>G, NG_034100.1:g.113126C>T, NM_024790.6:c.2891C>G, NM_024790.6:c.2891C>T, NM_001363131.2:c.2825C>G, NM_001363131.2:c.2825C>T, NM_001363131.1:c.2825C>G, NM_001363131.1:c.2825C>T, NM_001291339.2:c.1856C>G, NM_001291339.2:c.1856C>T, NM_001291339.1:c.1856C>G, NM_001291339.1:c.1856C>T, NM_001363132.2:c.2711C>G, NM_001363132.2:c.2711C>T, NM_001363132.1:c.2711C>G, NM_001363132.1:c.2711C>T, NM_001363133.2:c.2630C>G, NM_001363133.2:c.2630C>T, NM_001363133.1:c.2630C>G, NM_001363133.1:c.2630C>T, NM_001382391.1:c.2906C>G, NM_001382391.1:c.2906C>T, NM_001364869.1:c.2972C>G, NM_001364869.1:c.2972C>T, NM_001364870.1:c.2792C>G, NM_001364870.1:c.2792C>T, XM_005251305.5:c.2996C>G, XM_005251305.5:c.2996C>T, XM_005251305.4:c.3134C>G, XM_005251305.4:c.3134C>T, XM_005251305.3:c.3134C>G, XM_005251305.3:c.3134C>T, XM_005251305.2:c.2996C>G, XM_005251305.2:c.2996C>T, XM_005251305.1:c.2996C>G, XM_005251305.1:c.2996C>T, XM_006716474.4:c.2843C>G, XM_006716474.4:c.2843C>T, XM_006716474.3:c.2981C>G, XM_006716474.3:c.2981C>T, XM_006716474.2:c.2981C>G, XM_006716474.2:c.2981C>T, XM_006716474.1:c.2843C>G, XM_006716474.1:c.2843C>T, XM_006716477.4:c.2465C>G, XM_006716477.4:c.2465C>T, XM_006716477.3:c.2603C>G, XM_006716477.3:c.2603C>T, XM_006716477.2:c.2603C>G, XM_006716477.2:c.2603C>T, XM_006716477.1:c.2465C>G, XM_006716477.1:c.2465C>T, XM_011517611.4:c.1211C>G, XM_011517611.4:c.1211C>T, XM_011517611.3:c.1211C>G, XM_011517611.3:c.1211C>T, XM_011517611.2:c.1211C>G, XM_011517611.2:c.1211C>T, XM_011517611.1:c.1211C>G, XM_011517611.1:c.1211C>T, XM_011517598.3:c.3038C>G, XM_011517598.3:c.3038C>T, XM_011517598.2:c.3176C>G, XM_011517598.2:c.3176C>T, XM_011517598.1:c.3176C>G, XM_011517598.1:c.3176C>T, XM_011517599.3:c.3014C>G, XM_011517599.3:c.3014C>T, XM_011517599.2:c.3152C>G, XM_011517599.2:c.3152C>T, XM_011517599.1:c.3152C>G, XM_011517599.1:c.3152C>T, XM_011517601.3:c.2933C>G, XM_011517601.3:c.2933C>T, XM_011517601.2:c.3071C>G, XM_011517601.2:c.3071C>T, XM_011517601.1:c.3071C>G, XM_011517601.1:c.3071C>T, XM_017013847.3:c.2897C>G, XM_017013847.3:c.2897C>T, XM_017013847.2:c.3035C>G, XM_017013847.2:c.3035C>T, XM_017013847.1:c.3035C>G, XM_017013847.1:c.3035C>T, XM_017013849.3:c.2834C>G, XM_017013849.3:c.2834C>T, XM_017013849.2:c.2972C>G, XM_017013849.2:c.2972C>T, XM_017013849.1:c.2972C>G, XM_017013849.1:c.2972C>T, XM_017013854.3:c.2441C>G, XM_017013854.3:c.2441C>T, XM_017013854.2:c.2579C>G, XM_017013854.2:c.2579C>T, XM_017013854.1:c.2579C>G, XM_017013854.1:c.2579C>T, XM_047422251.1:c.2927C>G, XM_047422251.1:c.2927C>T, XM_047422262.1:c.2009C>G, XM_047422262.1:c.2009C>T, XM_047422244.1:c.2939C>G, XM_047422244.1:c.2939C>T, XM_047422253.1:c.3038C>G, XM_047422253.1:c.3038C>T, XM_047422245.1:c.2885C>G, XM_047422245.1:c.2885C>T, XM_047422246.1:c.2873C>G, XM_047422246.1:c.2873C>T, XM_047422254.1:c.2996C>G, XM_047422254.1:c.2996C>T, XM_047422249.1:c.2819C>G, XM_047422249.1:c.2819C>T, XM_047422256.1:c.2891C>G, XM_047422256.1:c.2891C>T, XM_047422257.1:c.2885C>G, XM_047422257.1:c.2885C>T, XM_047422252.1:c.2738C>G, XM_047422252.1:c.2738C>T, NM_001077204.1:c.2996C>G, NM_001077204.1:c.2996C>T, XM_047422255.1:c.2639C>G, XM_047422255.1:c.2639C>T, XM_047422259.1:c.2360C>G, XM_047422259.1:c.2360C>T, XM_047422260.1:c.2288C>G, XM_047422260.1:c.2288C>T, XM_047422261.1:c.2207C>G, XM_047422261.1:c.2207C>T, XM_047422247.1:c.3038C>G, XM_047422247.1:c.3038C>T, XM_047422250.1:c.3038C>G, XM_047422250.1:c.3038C>T, XM_047422258.1:c.3038C>G, XM_047422258.1:c.3038C>T, NP_079066.5:p.Pro964Arg, NP_079066.5:p.Pro964Leu, NP_001350060.1:p.Pro942Arg, NP_001350060.1:p.Pro942Leu, NP_001278268.1:p.Pro619Arg, NP_001278268.1:p.Pro619Leu, NP_001350061.1:p.Pro904Arg, NP_001350061.1:p.Pro904Leu, NP_001350062.1:p.Pro877Arg, NP_001350062.1:p.Pro877Leu, NP_001369320.1:p.Pro969Arg, NP_001369320.1:p.Pro969Leu, NP_001351798.1:p.Pro991Arg, NP_001351798.1:p.Pro991Leu, NP_001351799.1:p.Pro931Arg, NP_001351799.1:p.Pro931Leu, XP_005251362.3:p.Pro999Arg, XP_005251362.3:p.Pro999Leu, XP_006716537.3:p.Pro948Arg, XP_006716537.3:p.Pro948Leu, XP_006716540.3:p.Pro822Arg, XP_006716540.3:p.Pro822Leu, XP_011515913.1:p.Pro404Arg, XP_011515913.1:p.Pro404Leu, XP_011515900.2:p.Pro1013Arg, XP_011515900.2:p.Pro1013Leu, XP_011515901.2:p.Pro1005Arg, XP_011515901.2:p.Pro1005Leu, XP_011515903.2:p.Pro978Arg, XP_011515903.2:p.Pro978Leu, XP_016869336.2:p.Pro966Arg, XP_016869336.2:p.Pro966Leu, XP_016869338.2:p.Pro945Arg, XP_016869338.2:p.Pro945Leu, XP_016869343.2:p.Pro814Arg, XP_016869343.2:p.Pro814Leu, XP_047278207.1:p.Pro976Arg, XP_047278207.1:p.Pro976Leu, XP_047278218.1:p.Pro670Arg, XP_047278218.1:p.Pro670Leu, XP_047278200.1:p.Pro980Arg, XP_047278200.1:p.Pro980Leu, XP_047278209.1:p.Pro1013Arg, XP_047278209.1:p.Pro1013Leu, XP_047278201.1:p.Pro962Arg, XP_047278201.1:p.Pro962Leu, XP_047278202.1:p.Pro958Arg, XP_047278202.1:p.Pro958Leu, XP_047278210.1:p.Pro999Arg, XP_047278210.1:p.Pro999Leu, XP_047278205.1:p.Pro940Arg, XP_047278205.1:p.Pro940Leu, XP_047278212.1:p.Pro964Arg, XP_047278212.1:p.Pro964Leu, XP_047278213.1:p.Pro962Arg, XP_047278213.1:p.Pro962Leu, XP_047278208.1:p.Pro913Arg, XP_047278208.1:p.Pro913Leu, XP_047278211.1:p.Pro880Arg, XP_047278211.1:p.Pro880Leu, XP_047278215.1:p.Pro787Arg, XP_047278215.1:p.Pro787Leu, XP_047278216.1:p.Pro763Arg, XP_047278216.1:p.Pro763Leu, XP_047278217.1:p.Pro736Arg, XP_047278217.1:p.Pro736Leu, XP_047278203.1:p.Pro1013Arg, XP_047278203.1:p.Pro1013Leu, XP_047278206.1:p.Pro1013Arg, XP_047278206.1:p.Pro1013Leu, XP_047278214.1:p.Pro1013Arg, XP_047278214.1:p.Pro1013Leu

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