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Items: 1 to 20 of 656

1.

rs1489242648 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    13:111280330 (GRCh38)
    13:111932677 (GRCh37)
    Canonical SPDI:
    NC_000013.11:111280329:G:T
    Gene:
    ARHGEF7 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000013.11:g.111280330G>T, NC_000013.10:g.111932677G>T, NM_003899.5:c.1094G>T, NM_003899.4:c.1094G>T, NM_003899.3:c.1094G>T, XM_006719956.4:c.1565G>T, XM_006719956.3:c.1565G>T, XM_006719956.2:c.1565G>T, XM_006719956.1:c.1565G>T, NM_145735.3:c.1565G>T, NM_145735.2:c.1565G>T, NM_001113511.2:c.1628G>T, NM_001113511.1:c.1628G>T, NM_001113512.2:c.1478G>T, NM_001113512.1:c.1478G>T, XM_017020815.2:c.1349G>T, XM_017020815.1:c.1349G>T, NM_001354046.2:c.1565G>T, NM_001354046.1:c.1565G>T, NM_001354060.2:c.1094G>T, NM_001354060.1:c.1094G>T, NM_001354051.2:c.1094G>T, NM_001354051.1:c.1094G>T, NM_001354059.2:c.1094G>T, NM_001354059.1:c.1094G>T, NM_001354058.2:c.1094G>T, NM_001354058.1:c.1094G>T, NM_001330597.2:c.1094G>T, NM_001330597.1:c.1094G>T, NM_001354049.2:c.1094G>T, NM_001354049.1:c.1094G>T, NM_001354057.2:c.1094G>T, NM_001354057.1:c.1094G>T, NM_001354050.2:c.1094G>T, NM_001354050.1:c.1094G>T, NM_001113513.2:c.1094G>T, NM_001113513.1:c.1094G>T, NM_001354054.2:c.1094G>T, NM_001354054.1:c.1094G>T, NM_001354052.2:c.1094G>T, NM_001354052.1:c.1094G>T, NM_001330598.2:c.1094G>T, NM_001330598.1:c.1094G>T, NM_001320853.2:c.1319G>T, NM_001320853.1:c.1319G>T, XM_017020822.2:c.1094G>T, XM_017020822.1:c.1094G>T, NM_001354053.2:c.1094G>T, NM_001354053.1:c.1094G>T, NM_001320851.2:c.1094G>T, NM_001320851.1:c.1094G>T, NM_001354061.2:c.722G>T, NM_001354061.1:c.722G>T, NM_001320854.2:c.860G>T, NM_001320854.1:c.860G>T, NM_001354055.2:c.860G>T, NM_001354055.1:c.860G>T, XM_047430725.1:c.1382G>T, XM_047430730.1:c.1382G>T, XM_047430722.1:c.1565G>T, XM_047430723.1:c.1478G>T, XM_047430739.1:c.1094G>T, XM_047430724.1:c.1478G>T, NM_001320852.1:c.1565G>T, XM_047430726.1:c.1349G>T, XM_047430740.1:c.1094G>T, NM_001354047.1:c.1349G>T, XM_047430728.1:c.1349G>T, XM_047430729.1:c.1478G>T, XM_047430732.1:c.1349G>T, NM_001354048.1:c.1094G>T, NM_001354056.1:c.1094G>T, XM_047430734.1:c.1094G>T, XM_047430738.1:c.1094G>T, XM_047430733.1:c.1094G>T, XM_047430735.1:c.1094G>T, XM_047430727.1:c.1319G>T, XM_047430737.1:c.1094G>T, XM_047430742.1:c.1094G>T, XM_047430745.1:c.1094G>T, XM_047430736.1:c.1094G>T, XM_047430741.1:c.1094G>T, XM_047430744.1:c.1094G>T, XM_047430743.1:c.1094G>T, XM_047430746.1:c.683G>T, XR_007063704.1:n.2473G>T, XM_047430747.1:c.1094G>T, NP_003890.1:p.Arg365Ile, XP_006720019.1:p.Arg522Ile, NP_663788.1:p.Arg522Ile, NP_001106983.1:p.Arg543Ile, NP_001106984.1:p.Arg493Ile, XP_016876304.1:p.Arg450Ile, NP_001340975.1:p.Arg522Ile, NP_001340989.1:p.Arg365Ile, NP_001340980.1:p.Arg365Ile, NP_001340988.1:p.Arg365Ile, NP_001340987.1:p.Arg365Ile, NP_001317526.1:p.Arg365Ile, NP_001340978.1:p.Arg365Ile, NP_001340986.1:p.Arg365Ile, NP_001340979.1:p.Arg365Ile, NP_001106985.1:p.Arg365Ile, NP_001340983.1:p.Arg365Ile, NP_001340981.1:p.Arg365Ile, NP_001317527.1:p.Arg365Ile, NP_001307782.1:p.Arg440Ile, XP_016876311.1:p.Arg365Ile, NP_001340982.1:p.Arg365Ile, NP_001307780.1:p.Arg365Ile, NP_001340990.1:p.Arg241Ile, NP_001307783.1:p.Arg287Ile, NP_001340984.1:p.Arg287Ile, XP_047286681.1:p.Arg461Ile, XP_047286686.1:p.Arg461Ile, XP_047286678.1:p.Arg522Ile, XP_047286679.1:p.Arg493Ile, XP_047286695.1:p.Arg365Ile, XP_047286680.1:p.Arg493Ile, NP_001307781.1:p.Arg522Ile, XP_047286682.1:p.Arg450Ile, XP_047286696.1:p.Arg365Ile, NP_001340976.1:p.Arg450Ile, XP_047286684.1:p.Arg450Ile, XP_047286685.1:p.Arg493Ile, XP_047286688.1:p.Arg450Ile, NP_001340977.1:p.Arg365Ile, NP_001340985.1:p.Arg365Ile, XP_047286690.1:p.Arg365Ile, XP_047286694.1:p.Arg365Ile, XP_047286689.1:p.Arg365Ile, XP_047286691.1:p.Arg365Ile, XP_047286683.1:p.Arg440Ile, XP_047286693.1:p.Arg365Ile, XP_047286698.1:p.Arg365Ile, XP_047286701.1:p.Arg365Ile, XP_047286692.1:p.Arg365Ile, XP_047286697.1:p.Arg365Ile, XP_047286700.1:p.Arg365Ile, XP_047286699.1:p.Arg365Ile, XP_047286702.1:p.Arg228Ile, XP_047286703.1:p.Arg365Ile

    2.

    rs1487766136 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      13:111274768 (GRCh38)
      13:111927115 (GRCh37)
      Canonical SPDI:
      NC_000013.11:111274767:T:C
      Gene:
      ARHGEF7 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000111/1 (ALFA)
      C=0.00001/2 (GnomAD_exomes)
      HGVS:
      NC_000013.11:g.111274768T>C, NC_000013.10:g.111927115T>C, NM_003899.5:c.779T>C, NM_003899.4:c.779T>C, NM_003899.3:c.779T>C, XM_006719956.4:c.1250T>C, XM_006719956.3:c.1250T>C, XM_006719956.2:c.1250T>C, XM_006719956.1:c.1250T>C, NM_145735.3:c.1250T>C, NM_145735.2:c.1250T>C, XM_011521133.3:c.1250T>C, XM_011521133.2:c.1250T>C, XM_011521133.1:c.1250T>C, NM_001113511.2:c.1313T>C, NM_001113511.1:c.1313T>C, NM_001113512.2:c.1163T>C, NM_001113512.1:c.1163T>C, XM_017020815.2:c.1034T>C, XM_017020815.1:c.1034T>C, NM_001354046.2:c.1250T>C, NM_001354046.1:c.1250T>C, NM_001354060.2:c.779T>C, NM_001354060.1:c.779T>C, NM_001354051.2:c.779T>C, NM_001354051.1:c.779T>C, NM_001354059.2:c.779T>C, NM_001354059.1:c.779T>C, NM_001354058.2:c.779T>C, NM_001354058.1:c.779T>C, NM_001330597.2:c.779T>C, NM_001330597.1:c.779T>C, NM_001354049.2:c.779T>C, NM_001354049.1:c.779T>C, NM_001354057.2:c.779T>C, NM_001354057.1:c.779T>C, NM_001354050.2:c.779T>C, NM_001354050.1:c.779T>C, NM_001113513.2:c.779T>C, NM_001113513.1:c.779T>C, NM_001354054.2:c.779T>C, NM_001354054.1:c.779T>C, NM_001354052.2:c.779T>C, NM_001354052.1:c.779T>C, NM_001330598.2:c.779T>C, NM_001330598.1:c.779T>C, NM_001320853.2:c.1004T>C, NM_001320853.1:c.1004T>C, XM_017020822.2:c.779T>C, XM_017020822.1:c.779T>C, NM_001354053.2:c.779T>C, NM_001354053.1:c.779T>C, NM_001320851.2:c.779T>C, NM_001320851.1:c.779T>C, NM_001354061.2:c.407T>C, NM_001354061.1:c.407T>C, NM_001320854.2:c.545T>C, NM_001320854.1:c.545T>C, NM_001354055.2:c.545T>C, NM_001354055.1:c.545T>C, XM_047430725.1:c.1067T>C, XM_047430730.1:c.1067T>C, XM_047430722.1:c.1250T>C, XM_047430723.1:c.1163T>C, XM_047430739.1:c.779T>C, XM_047430724.1:c.1163T>C, NM_001320852.1:c.1250T>C, XM_047430726.1:c.1034T>C, XM_047430740.1:c.779T>C, NM_001354047.1:c.1034T>C, XM_047430728.1:c.1034T>C, XM_047430729.1:c.1163T>C, XM_047430732.1:c.1034T>C, NM_001354048.1:c.779T>C, NM_001354056.1:c.779T>C, XM_047430734.1:c.779T>C, XM_047430738.1:c.779T>C, XM_047430733.1:c.779T>C, XM_047430735.1:c.779T>C, XM_047430727.1:c.1004T>C, XM_047430737.1:c.779T>C, XM_047430742.1:c.779T>C, XM_047430745.1:c.779T>C, XM_047430736.1:c.779T>C, XM_047430741.1:c.779T>C, XM_047430744.1:c.779T>C, XM_047430743.1:c.779T>C, XM_047430746.1:c.368T>C, XR_007063704.1:n.2158T>C, XM_047430747.1:c.779T>C, XM_047430748.1:c.779T>C, XM_047430750.1:c.779T>C, XM_047430751.1:c.779T>C, NP_003890.1:p.Met260Thr, XP_006720019.1:p.Met417Thr, NP_663788.1:p.Met417Thr, XP_011519435.1:p.Met417Thr, NP_001106983.1:p.Met438Thr, NP_001106984.1:p.Met388Thr, XP_016876304.1:p.Met345Thr, NP_001340975.1:p.Met417Thr, NP_001340989.1:p.Met260Thr, NP_001340980.1:p.Met260Thr, NP_001340988.1:p.Met260Thr, NP_001340987.1:p.Met260Thr, NP_001317526.1:p.Met260Thr, NP_001340978.1:p.Met260Thr, NP_001340986.1:p.Met260Thr, NP_001340979.1:p.Met260Thr, NP_001106985.1:p.Met260Thr, NP_001340983.1:p.Met260Thr, NP_001340981.1:p.Met260Thr, NP_001317527.1:p.Met260Thr, NP_001307782.1:p.Met335Thr, XP_016876311.1:p.Met260Thr, NP_001340982.1:p.Met260Thr, NP_001307780.1:p.Met260Thr, NP_001340990.1:p.Met136Thr, NP_001307783.1:p.Met182Thr, NP_001340984.1:p.Met182Thr, XP_047286681.1:p.Met356Thr, XP_047286686.1:p.Met356Thr, XP_047286678.1:p.Met417Thr, XP_047286679.1:p.Met388Thr, XP_047286695.1:p.Met260Thr, XP_047286680.1:p.Met388Thr, NP_001307781.1:p.Met417Thr, XP_047286682.1:p.Met345Thr, XP_047286696.1:p.Met260Thr, NP_001340976.1:p.Met345Thr, XP_047286684.1:p.Met345Thr, XP_047286685.1:p.Met388Thr, XP_047286688.1:p.Met345Thr, NP_001340977.1:p.Met260Thr, NP_001340985.1:p.Met260Thr, XP_047286690.1:p.Met260Thr, XP_047286694.1:p.Met260Thr, XP_047286689.1:p.Met260Thr, XP_047286691.1:p.Met260Thr, XP_047286683.1:p.Met335Thr, XP_047286693.1:p.Met260Thr, XP_047286698.1:p.Met260Thr, XP_047286701.1:p.Met260Thr, XP_047286692.1:p.Met260Thr, XP_047286697.1:p.Met260Thr, XP_047286700.1:p.Met260Thr, XP_047286699.1:p.Met260Thr, XP_047286702.1:p.Met123Thr, XP_047286703.1:p.Met260Thr, XP_047286704.1:p.Met260Thr, XP_047286706.1:p.Met260Thr, XP_047286707.1:p.Met260Thr

      3.

      rs1487541640 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:111300780 (GRCh38)
        13:111953127 (GRCh37)
        Canonical SPDI:
        NC_000013.11:111300779:C:T
        Gene:
        ARHGEF7 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000015/4 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000013.11:g.111300780C>T, NC_000013.10:g.111953127C>T, NM_003899.5:c.1696C>T, NM_003899.4:c.1696C>T, NM_003899.3:c.1696C>T, XM_006719956.4:c.2203C>T, XM_006719956.3:c.2203C>T, XM_006719956.2:c.2203C>T, XM_006719956.1:c.2203C>T, XM_017020815.2:c.1987C>T, XM_017020815.1:c.1987C>T, NM_001354046.2:c.2344C>T, NM_001354046.1:c.2344C>T, NM_001354051.2:c.1873C>T, NM_001354051.1:c.1873C>T, NM_001354049.2:c.1873C>T, NM_001354049.1:c.1873C>T, NM_001354050.2:c.1873C>T, NM_001354050.1:c.1873C>T, NM_001113513.2:c.1696C>T, NM_001113513.1:c.1696C>T, NM_001354054.2:c.1732C>T, NM_001354054.1:c.1732C>T, NM_001354052.2:c.1696C>T, NM_001354052.1:c.1696C>T, NM_001320853.2:c.1921C>T, NM_001320853.1:c.1921C>T, XM_017020822.2:c.1732C>T, XM_017020822.1:c.1732C>T, NM_001354053.2:c.1696C>T, NM_001354053.1:c.1696C>T, NM_001320851.2:c.1696C>T, NM_001320851.1:c.1696C>T, NM_001354055.2:c.1639C>T, NM_001354055.1:c.1639C>T, XM_047430725.1:c.2197C>T, XM_047430730.1:c.1984C>T, XM_047430722.1:c.2380C>T, XM_047430723.1:c.2293C>T, XM_047430739.1:c.1909C>T, XM_047430724.1:c.2257C>T, NM_001320852.1:c.2167C>T, XM_047430726.1:c.2164C>T, XM_047430740.1:c.1909C>T, XM_047430728.1:c.2128C>T, XM_047430729.1:c.2080C>T, XM_047430732.1:c.1951C>T, NM_001354048.1:c.1873C>T, XM_047430734.1:c.1909C>T, XM_047430738.1:c.1909C>T, XM_047430733.1:c.1909C>T, XM_047430735.1:c.1909C>T, XM_047430727.1:c.2134C>T, XM_047430737.1:c.1909C>T, XM_047430742.1:c.1732C>T, XM_047430745.1:c.1696C>T, XM_047430736.1:c.1909C>T, XM_047430741.1:c.1873C>T, XM_047430744.1:c.1696C>T, XM_047430743.1:c.1696C>T, XM_047430746.1:c.1498C>T, NP_003890.1:p.Leu566Phe, XP_006720019.1:p.Leu735Phe, XP_016876304.1:p.Leu663Phe, NP_001340975.1:p.Leu782Phe, NP_001340980.1:p.Leu625Phe, NP_001340978.1:p.Leu625Phe, NP_001340979.1:p.Leu625Phe, NP_001106985.1:p.Leu566Phe, NP_001340983.1:p.Leu578Phe, NP_001340981.1:p.Leu566Phe, NP_001307782.1:p.Leu641Phe, XP_016876311.1:p.Leu578Phe, NP_001340982.1:p.Leu566Phe, NP_001307780.1:p.Leu566Phe, NP_001340984.1:p.Leu547Phe, XP_047286681.1:p.Leu733Phe, XP_047286686.1:p.Leu662Phe, XP_047286678.1:p.Leu794Phe, XP_047286679.1:p.Leu765Phe, XP_047286695.1:p.Leu637Phe, XP_047286680.1:p.Leu753Phe, NP_001307781.1:p.Leu723Phe, XP_047286682.1:p.Leu722Phe, XP_047286696.1:p.Leu637Phe, XP_047286684.1:p.Leu710Phe, XP_047286685.1:p.Leu694Phe, XP_047286688.1:p.Leu651Phe, NP_001340977.1:p.Leu625Phe, XP_047286690.1:p.Leu637Phe, XP_047286694.1:p.Leu637Phe, XP_047286689.1:p.Leu637Phe, XP_047286691.1:p.Leu637Phe, XP_047286683.1:p.Leu712Phe, XP_047286693.1:p.Leu637Phe, XP_047286698.1:p.Leu578Phe, XP_047286701.1:p.Leu566Phe, XP_047286692.1:p.Leu637Phe, XP_047286697.1:p.Leu625Phe, XP_047286700.1:p.Leu566Phe, XP_047286699.1:p.Leu566Phe, XP_047286702.1:p.Leu500Phe

        4.

        rs1486881738 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          13:111243957 (GRCh38)
          13:111896304 (GRCh37)
          Canonical SPDI:
          NC_000013.11:111243956:C:G,NC_000013.11:111243956:C:T
          Gene:
          ARHGEF7 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000013.11:g.111243957C>G, NC_000013.11:g.111243957C>T, NC_000013.10:g.111896304C>G, NC_000013.10:g.111896304C>T, NM_003899.5:c.374C>G, NM_003899.5:c.374C>T, NM_003899.4:c.374C>G, NM_003899.4:c.374C>T, NM_003899.3:c.374C>G, NM_003899.3:c.374C>T, XM_006719956.4:c.845C>G, XM_006719956.4:c.845C>T, XM_006719956.3:c.845C>G, XM_006719956.3:c.845C>T, XM_006719956.2:c.845C>G, XM_006719956.2:c.845C>T, XM_006719956.1:c.845C>G, XM_006719956.1:c.845C>T, NM_145735.3:c.845C>G, NM_145735.3:c.845C>T, NM_145735.2:c.845C>G, NM_145735.2:c.845C>T, XM_011521133.3:c.845C>G, XM_011521133.3:c.845C>T, XM_011521133.2:c.845C>G, XM_011521133.2:c.845C>T, XM_011521133.1:c.845C>G, XM_011521133.1:c.845C>T, NM_001113511.2:c.908C>G, NM_001113511.2:c.908C>T, NM_001113511.1:c.908C>G, NM_001113511.1:c.908C>T, NM_001113512.2:c.758C>G, NM_001113512.2:c.758C>T, NM_001113512.1:c.758C>G, NM_001113512.1:c.758C>T, XM_017020815.2:c.629C>G, XM_017020815.2:c.629C>T, XM_017020815.1:c.629C>G, XM_017020815.1:c.629C>T, NM_001354046.2:c.845C>G, NM_001354046.2:c.845C>T, NM_001354046.1:c.845C>G, NM_001354046.1:c.845C>T, NM_001354060.2:c.374C>G, NM_001354060.2:c.374C>T, NM_001354060.1:c.374C>G, NM_001354060.1:c.374C>T, NM_001354051.2:c.374C>G, NM_001354051.2:c.374C>T, NM_001354051.1:c.374C>G, NM_001354051.1:c.374C>T, NM_001354059.2:c.374C>G, NM_001354059.2:c.374C>T, NM_001354059.1:c.374C>G, NM_001354059.1:c.374C>T, NM_001354058.2:c.374C>G, NM_001354058.2:c.374C>T, NM_001354058.1:c.374C>G, NM_001354058.1:c.374C>T, NM_001330597.2:c.374C>G, NM_001330597.2:c.374C>T, NM_001330597.1:c.374C>G, NM_001330597.1:c.374C>T, NM_001354049.2:c.374C>G, NM_001354049.2:c.374C>T, NM_001354049.1:c.374C>G, NM_001354049.1:c.374C>T, NM_001354057.2:c.374C>G, NM_001354057.2:c.374C>T, NM_001354057.1:c.374C>G, NM_001354057.1:c.374C>T, NM_001354050.2:c.374C>G, NM_001354050.2:c.374C>T, NM_001354050.1:c.374C>G, NM_001354050.1:c.374C>T, NM_001113513.2:c.374C>G, NM_001113513.2:c.374C>T, NM_001113513.1:c.374C>G, NM_001113513.1:c.374C>T, NM_001354054.2:c.374C>G, NM_001354054.2:c.374C>T, NM_001354054.1:c.374C>G, NM_001354054.1:c.374C>T, NM_001354052.2:c.374C>G, NM_001354052.2:c.374C>T, NM_001354052.1:c.374C>G, NM_001354052.1:c.374C>T, NM_001330598.2:c.374C>G, NM_001330598.2:c.374C>T, NM_001330598.1:c.374C>G, NM_001330598.1:c.374C>T, NM_001320853.2:c.599C>G, NM_001320853.2:c.599C>T, NM_001320853.1:c.599C>G, NM_001320853.1:c.599C>T, XM_017020822.2:c.374C>G, XM_017020822.2:c.374C>T, XM_017020822.1:c.374C>G, XM_017020822.1:c.374C>T, NM_001354053.2:c.374C>G, NM_001354053.2:c.374C>T, NM_001354053.1:c.374C>G, NM_001354053.1:c.374C>T, NM_001320851.2:c.374C>G, NM_001320851.2:c.374C>T, NM_001320851.1:c.374C>G, NM_001320851.1:c.374C>T, NM_001354061.2:c.-58C>G, NM_001354061.2:c.-58C>T, NM_001354061.1:c.-58C>G, NM_001354061.1:c.-58C>T, NM_001320854.2:c.140C>G, NM_001320854.2:c.140C>T, NM_001320854.1:c.140C>G, NM_001320854.1:c.140C>T, NM_001354055.2:c.140C>G, NM_001354055.2:c.140C>T, NM_001354055.1:c.140C>G, NM_001354055.1:c.140C>T, XM_047430725.1:c.662C>G, XM_047430725.1:c.662C>T, XM_047430730.1:c.662C>G, XM_047430730.1:c.662C>T, XM_047430722.1:c.845C>G, XM_047430722.1:c.845C>T, XM_047430723.1:c.758C>G, XM_047430723.1:c.758C>T, XM_047430739.1:c.374C>G, XM_047430739.1:c.374C>T, XM_047430724.1:c.758C>G, XM_047430724.1:c.758C>T, NM_001320852.1:c.845C>G, NM_001320852.1:c.845C>T, XM_047430726.1:c.629C>G, XM_047430726.1:c.629C>T, XM_047430740.1:c.374C>G, XM_047430740.1:c.374C>T, NM_001354047.1:c.629C>G, NM_001354047.1:c.629C>T, XM_047430728.1:c.629C>G, XM_047430728.1:c.629C>T, XM_047430729.1:c.758C>G, XM_047430729.1:c.758C>T, XM_047430732.1:c.629C>G, XM_047430732.1:c.629C>T, NM_001354048.1:c.374C>G, NM_001354048.1:c.374C>T, NM_001354056.1:c.374C>G, NM_001354056.1:c.374C>T, XM_047430734.1:c.374C>G, XM_047430734.1:c.374C>T, XM_047430738.1:c.374C>G, XM_047430738.1:c.374C>T, XM_047430733.1:c.374C>G, XM_047430733.1:c.374C>T, XM_047430735.1:c.374C>G, XM_047430735.1:c.374C>T, XM_047430727.1:c.599C>G, XM_047430727.1:c.599C>T, XM_047430737.1:c.374C>G, XM_047430737.1:c.374C>T, XM_047430742.1:c.374C>G, XM_047430742.1:c.374C>T, XM_047430745.1:c.374C>G, XM_047430745.1:c.374C>T, XM_047430736.1:c.374C>G, XM_047430736.1:c.374C>T, XM_047430741.1:c.374C>G, XM_047430741.1:c.374C>T, XM_047430744.1:c.374C>G, XM_047430744.1:c.374C>T, XM_047430743.1:c.374C>G, XM_047430743.1:c.374C>T, XR_007063704.1:n.1753C>G, XR_007063704.1:n.1753C>T, XM_047430747.1:c.374C>G, XM_047430747.1:c.374C>T, XM_047430748.1:c.374C>G, XM_047430748.1:c.374C>T, XM_047430750.1:c.374C>G, XM_047430750.1:c.374C>T, XM_047430751.1:c.374C>G, XM_047430751.1:c.374C>T, NP_003890.1:p.Thr125Ser, NP_003890.1:p.Thr125Ile, XP_006720019.1:p.Thr282Ser, XP_006720019.1:p.Thr282Ile, NP_663788.1:p.Thr282Ser, NP_663788.1:p.Thr282Ile, XP_011519435.1:p.Thr282Ser, XP_011519435.1:p.Thr282Ile, NP_001106983.1:p.Thr303Ser, NP_001106983.1:p.Thr303Ile, NP_001106984.1:p.Thr253Ser, NP_001106984.1:p.Thr253Ile, XP_016876304.1:p.Thr210Ser, XP_016876304.1:p.Thr210Ile, NP_001340975.1:p.Thr282Ser, NP_001340975.1:p.Thr282Ile, NP_001340989.1:p.Thr125Ser, NP_001340989.1:p.Thr125Ile, NP_001340980.1:p.Thr125Ser, NP_001340980.1:p.Thr125Ile, NP_001340988.1:p.Thr125Ser, NP_001340988.1:p.Thr125Ile, NP_001340987.1:p.Thr125Ser, NP_001340987.1:p.Thr125Ile, NP_001317526.1:p.Thr125Ser, NP_001317526.1:p.Thr125Ile, NP_001340978.1:p.Thr125Ser, NP_001340978.1:p.Thr125Ile, NP_001340986.1:p.Thr125Ser, NP_001340986.1:p.Thr125Ile, NP_001340979.1:p.Thr125Ser, NP_001340979.1:p.Thr125Ile, NP_001106985.1:p.Thr125Ser, NP_001106985.1:p.Thr125Ile, NP_001340983.1:p.Thr125Ser, NP_001340983.1:p.Thr125Ile, NP_001340981.1:p.Thr125Ser, NP_001340981.1:p.Thr125Ile, NP_001317527.1:p.Thr125Ser, NP_001317527.1:p.Thr125Ile, NP_001307782.1:p.Thr200Ser, NP_001307782.1:p.Thr200Ile, XP_016876311.1:p.Thr125Ser, XP_016876311.1:p.Thr125Ile, NP_001340982.1:p.Thr125Ser, NP_001340982.1:p.Thr125Ile, NP_001307780.1:p.Thr125Ser, NP_001307780.1:p.Thr125Ile, NP_001307783.1:p.Thr47Ser, NP_001307783.1:p.Thr47Ile, NP_001340984.1:p.Thr47Ser, NP_001340984.1:p.Thr47Ile, XP_047286681.1:p.Thr221Ser, XP_047286681.1:p.Thr221Ile, XP_047286686.1:p.Thr221Ser, XP_047286686.1:p.Thr221Ile, XP_047286678.1:p.Thr282Ser, XP_047286678.1:p.Thr282Ile, XP_047286679.1:p.Thr253Ser, XP_047286679.1:p.Thr253Ile, XP_047286695.1:p.Thr125Ser, XP_047286695.1:p.Thr125Ile, XP_047286680.1:p.Thr253Ser, XP_047286680.1:p.Thr253Ile, NP_001307781.1:p.Thr282Ser, NP_001307781.1:p.Thr282Ile, XP_047286682.1:p.Thr210Ser, XP_047286682.1:p.Thr210Ile, XP_047286696.1:p.Thr125Ser, XP_047286696.1:p.Thr125Ile, NP_001340976.1:p.Thr210Ser, NP_001340976.1:p.Thr210Ile, XP_047286684.1:p.Thr210Ser, XP_047286684.1:p.Thr210Ile, XP_047286685.1:p.Thr253Ser, XP_047286685.1:p.Thr253Ile, XP_047286688.1:p.Thr210Ser, XP_047286688.1:p.Thr210Ile, NP_001340977.1:p.Thr125Ser, NP_001340977.1:p.Thr125Ile, NP_001340985.1:p.Thr125Ser, NP_001340985.1:p.Thr125Ile, XP_047286690.1:p.Thr125Ser, XP_047286690.1:p.Thr125Ile, XP_047286694.1:p.Thr125Ser, XP_047286694.1:p.Thr125Ile, XP_047286689.1:p.Thr125Ser, XP_047286689.1:p.Thr125Ile, XP_047286691.1:p.Thr125Ser, XP_047286691.1:p.Thr125Ile, XP_047286683.1:p.Thr200Ser, XP_047286683.1:p.Thr200Ile, XP_047286693.1:p.Thr125Ser, XP_047286693.1:p.Thr125Ile, XP_047286698.1:p.Thr125Ser, XP_047286698.1:p.Thr125Ile, XP_047286701.1:p.Thr125Ser, XP_047286701.1:p.Thr125Ile, XP_047286692.1:p.Thr125Ser, XP_047286692.1:p.Thr125Ile, XP_047286697.1:p.Thr125Ser, XP_047286697.1:p.Thr125Ile, XP_047286700.1:p.Thr125Ser, XP_047286700.1:p.Thr125Ile, XP_047286699.1:p.Thr125Ser, XP_047286699.1:p.Thr125Ile, XP_047286703.1:p.Thr125Ser, XP_047286703.1:p.Thr125Ile, XP_047286704.1:p.Thr125Ser, XP_047286704.1:p.Thr125Ile, XP_047286706.1:p.Thr125Ser, XP_047286706.1:p.Thr125Ile, XP_047286707.1:p.Thr125Ser, XP_047286707.1:p.Thr125Ile

          5.

          rs1485148164 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:111153949 (GRCh38)
            13:111806296 (GRCh37)
            Canonical SPDI:
            NC_000013.11:111153948:C:T
            Gene:
            ARHGEF7 (Varview), LOC101060553 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000013.11:g.111153949C>T, NC_000013.10:g.111806296C>T, NM_003899.5:c.-262C>T, NM_003899.4:c.-262C>T, NM_003899.3:c.-262C>T, XM_006719956.4:c.210C>T, XM_006719956.3:c.210C>T, XM_006719956.2:c.210C>T, XM_006719956.1:c.210C>T, NM_145735.3:c.210C>T, NM_145735.2:c.210C>T, XM_011521133.3:c.210C>T, XM_011521133.2:c.210C>T, XM_011521133.1:c.210C>T, NM_001113511.2:c.210C>T, NM_001113511.1:c.210C>T, XM_017020815.2:c.210C>T, XM_017020815.1:c.210C>T, NM_001354046.2:c.210C>T, NM_001354046.1:c.210C>T, NM_001354060.2:c.-262C>T, NM_001354060.1:c.-262C>T, NM_001354051.2:c.-262C>T, NM_001354051.1:c.-262C>T, NM_001354059.2:c.-325C>T, NM_001354059.1:c.-325C>T, NM_001354058.2:c.-274C>T, NM_001354058.1:c.-274C>T, NM_001330597.2:c.-262C>T, NM_001330597.1:c.-262C>T, NM_001354049.2:c.-262C>T, NM_001354049.1:c.-262C>T, NM_001354057.2:c.-240C>T, NM_001354057.1:c.-240C>T, NM_001354050.2:c.-177C>T, NM_001354050.1:c.-177C>T, NM_001354054.2:c.-262C>T, NM_001354054.1:c.-262C>T, NM_001354052.2:c.-262C>T, NM_001354052.1:c.-262C>T, NM_001330598.2:c.-46C>T, NM_001330598.1:c.-46C>T, XM_017020822.2:c.-46C>T, XM_017020822.1:c.-46C>T, NM_001354053.2:c.-46C>T, NM_001354053.1:c.-46C>T, NM_001320851.2:c.-46C>T, NM_001320851.1:c.-46C>T, XM_047430722.1:c.210C>T, NM_001320852.1:c.210C>T, XM_047430726.1:c.210C>T, NM_001354047.1:c.210C>T, XM_047430728.1:c.210C>T, XM_047430732.1:c.210C>T, NM_001354048.1:c.-262C>T, NM_001354056.1:c.-46C>T, XM_047430738.1:c.-262C>T, XM_047430733.1:c.-262C>T, XM_047430735.1:c.-177C>T, XM_047430742.1:c.-262C>T, XM_047430745.1:c.-262C>T, XM_047430736.1:c.-46C>T, XM_047430741.1:c.-46C>T, XM_047430744.1:c.-177C>T, XR_007063704.1:n.1118C>T, XM_047430747.1:c.-262C>T, XM_047430748.1:c.-262C>T, XM_047430750.1:c.-177C>T, XM_047430751.1:c.-46C>T

            6.

            rs1483189569 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:111300805 (GRCh38)
              13:111953152 (GRCh37)
              Canonical SPDI:
              NC_000013.11:111300804:T:C
              Gene:
              ARHGEF7 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.111300805T>C, NC_000013.10:g.111953152T>C, NM_003899.5:c.1721T>C, NM_003899.4:c.1721T>C, NM_003899.3:c.1721T>C, XM_006719956.4:c.2228T>C, XM_006719956.3:c.2228T>C, XM_006719956.2:c.2228T>C, XM_006719956.1:c.2228T>C, XM_017020815.2:c.2012T>C, XM_017020815.1:c.2012T>C, NM_001354046.2:c.2369T>C, NM_001354046.1:c.2369T>C, NM_001354051.2:c.1898T>C, NM_001354051.1:c.1898T>C, NM_001354049.2:c.1898T>C, NM_001354049.1:c.1898T>C, NM_001354050.2:c.1898T>C, NM_001354050.1:c.1898T>C, NM_001113513.2:c.1721T>C, NM_001113513.1:c.1721T>C, NM_001354054.2:c.1757T>C, NM_001354054.1:c.1757T>C, NM_001354052.2:c.1721T>C, NM_001354052.1:c.1721T>C, NM_001320853.2:c.1946T>C, NM_001320853.1:c.1946T>C, XM_017020822.2:c.1757T>C, XM_017020822.1:c.1757T>C, NM_001354053.2:c.1721T>C, NM_001354053.1:c.1721T>C, NM_001320851.2:c.1721T>C, NM_001320851.1:c.1721T>C, NM_001354055.2:c.1664T>C, NM_001354055.1:c.1664T>C, XM_047430725.1:c.2222T>C, XM_047430730.1:c.2009T>C, XM_047430722.1:c.2405T>C, XM_047430723.1:c.2318T>C, XM_047430739.1:c.1934T>C, XM_047430724.1:c.2282T>C, NM_001320852.1:c.2192T>C, XM_047430726.1:c.2189T>C, XM_047430740.1:c.1934T>C, XM_047430728.1:c.2153T>C, XM_047430729.1:c.2105T>C, XM_047430732.1:c.1976T>C, NM_001354048.1:c.1898T>C, XM_047430734.1:c.1934T>C, XM_047430738.1:c.1934T>C, XM_047430733.1:c.1934T>C, XM_047430735.1:c.1934T>C, XM_047430727.1:c.2159T>C, XM_047430737.1:c.1934T>C, XM_047430742.1:c.1757T>C, XM_047430745.1:c.1721T>C, XM_047430736.1:c.1934T>C, XM_047430741.1:c.1898T>C, XM_047430744.1:c.1721T>C, XM_047430743.1:c.1721T>C, XM_047430746.1:c.1523T>C, NP_003890.1:p.Val574Ala, XP_006720019.1:p.Val743Ala, XP_016876304.1:p.Val671Ala, NP_001340975.1:p.Val790Ala, NP_001340980.1:p.Val633Ala, NP_001340978.1:p.Val633Ala, NP_001340979.1:p.Val633Ala, NP_001106985.1:p.Val574Ala, NP_001340983.1:p.Val586Ala, NP_001340981.1:p.Val574Ala, NP_001307782.1:p.Val649Ala, XP_016876311.1:p.Val586Ala, NP_001340982.1:p.Val574Ala, NP_001307780.1:p.Val574Ala, NP_001340984.1:p.Val555Ala, XP_047286681.1:p.Val741Ala, XP_047286686.1:p.Val670Ala, XP_047286678.1:p.Val802Ala, XP_047286679.1:p.Val773Ala, XP_047286695.1:p.Val645Ala, XP_047286680.1:p.Val761Ala, NP_001307781.1:p.Val731Ala, XP_047286682.1:p.Val730Ala, XP_047286696.1:p.Val645Ala, XP_047286684.1:p.Val718Ala, XP_047286685.1:p.Val702Ala, XP_047286688.1:p.Val659Ala, NP_001340977.1:p.Val633Ala, XP_047286690.1:p.Val645Ala, XP_047286694.1:p.Val645Ala, XP_047286689.1:p.Val645Ala, XP_047286691.1:p.Val645Ala, XP_047286683.1:p.Val720Ala, XP_047286693.1:p.Val645Ala, XP_047286698.1:p.Val586Ala, XP_047286701.1:p.Val574Ala, XP_047286692.1:p.Val645Ala, XP_047286697.1:p.Val633Ala, XP_047286700.1:p.Val574Ala, XP_047286699.1:p.Val574Ala, XP_047286702.1:p.Val508Ala

              7.

              rs1482568555 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                13:111303092 (GRCh38)
                13:111955439 (GRCh37)
                Canonical SPDI:
                NC_000013.11:111303091:C:G
                Gene:
                ARHGEF7 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.111303092C>G, NC_000013.10:g.111955439C>G, NM_003899.5:c.1920C>G, NM_003899.4:c.1920C>G, NM_003899.3:c.1920C>G, XM_006719956.4:c.2427C>G, XM_006719956.3:c.2427C>G, XM_006719956.2:c.2427C>G, XM_006719956.1:c.2427C>G, XM_017020815.2:c.2211C>G, XM_017020815.1:c.2211C>G, NM_001354046.2:c.2568C>G, NM_001354046.1:c.2568C>G, NM_001354051.2:c.2097C>G, NM_001354051.1:c.2097C>G, NM_001354049.2:c.2097C>G, NM_001354049.1:c.2097C>G, NM_001354050.2:c.2097C>G, NM_001354050.1:c.2097C>G, NM_001113513.2:c.1920C>G, NM_001113513.1:c.1920C>G, NM_001354054.2:c.1956C>G, NM_001354054.1:c.1956C>G, NM_001354052.2:c.1920C>G, NM_001354052.1:c.1920C>G, NM_001320853.2:c.2145C>G, NM_001320853.1:c.2145C>G, XM_017020822.2:c.1956C>G, XM_017020822.1:c.1956C>G, NM_001354053.2:c.1920C>G, NM_001354053.1:c.1920C>G, NM_001320851.2:c.1920C>G, NM_001320851.1:c.1920C>G, NM_001354055.2:c.1863C>G, NM_001354055.1:c.1863C>G, XM_047430725.1:c.2421C>G, XM_047430730.1:c.2208C>G, XM_047430722.1:c.2604C>G, XM_047430723.1:c.2517C>G, XM_047430739.1:c.2133C>G, XM_047430724.1:c.2481C>G, NM_001320852.1:c.2391C>G, XM_047430726.1:c.2388C>G, XM_047430740.1:c.2133C>G, XM_047430728.1:c.2352C>G, XM_047430729.1:c.2304C>G, XM_047430732.1:c.2175C>G, NM_001354048.1:c.2097C>G, XM_047430734.1:c.2133C>G, XM_047430738.1:c.2133C>G, XM_047430733.1:c.2133C>G, XM_047430735.1:c.2133C>G, XM_047430727.1:c.2358C>G, XM_047430737.1:c.2133C>G, XM_047430742.1:c.1956C>G, XM_047430745.1:c.1920C>G, XM_047430736.1:c.2133C>G, XM_047430741.1:c.2097C>G, XM_047430744.1:c.1920C>G, XM_047430743.1:c.1920C>G, XM_047430746.1:c.1722C>G

                8.

                rs1482200413 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:111283294 (GRCh38)
                  13:111935641 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:111283293:G:A
                  Gene:
                  ARHGEF7 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000013.11:g.111283294G>A, NC_000013.10:g.111935641G>A, NM_003899.5:c.1410G>A, NM_003899.4:c.1410G>A, NM_003899.3:c.1410G>A, XM_006719956.4:c.1881G>A, XM_006719956.3:c.1881G>A, XM_006719956.2:c.1881G>A, XM_006719956.1:c.1881G>A, NM_145735.3:c.1881G>A, NM_145735.2:c.1881G>A, NM_001113511.2:c.1944G>A, NM_001113511.1:c.1944G>A, NM_001113512.2:c.1794G>A, NM_001113512.1:c.1794G>A, XM_017020815.2:c.1665G>A, XM_017020815.1:c.1665G>A, NM_001354046.2:c.1881G>A, NM_001354046.1:c.1881G>A, NM_001354060.2:c.1410G>A, NM_001354060.1:c.1410G>A, NM_001354051.2:c.1410G>A, NM_001354051.1:c.1410G>A, NM_001354059.2:c.1410G>A, NM_001354059.1:c.1410G>A, NM_001354058.2:c.1410G>A, NM_001354058.1:c.1410G>A, NM_001330597.2:c.1410G>A, NM_001330597.1:c.1410G>A, NM_001354049.2:c.1410G>A, NM_001354049.1:c.1410G>A, NM_001354057.2:c.1410G>A, NM_001354057.1:c.1410G>A, NM_001354050.2:c.1410G>A, NM_001354050.1:c.1410G>A, NM_001113513.2:c.1410G>A, NM_001113513.1:c.1410G>A, NM_001354054.2:c.1410G>A, NM_001354054.1:c.1410G>A, NM_001354052.2:c.1410G>A, NM_001354052.1:c.1410G>A, NM_001330598.2:c.1410G>A, NM_001330598.1:c.1410G>A, NM_001320853.2:c.1635G>A, NM_001320853.1:c.1635G>A, XM_017020822.2:c.1410G>A, XM_017020822.1:c.1410G>A, NM_001354053.2:c.1410G>A, NM_001354053.1:c.1410G>A, NM_001320851.2:c.1410G>A, NM_001320851.1:c.1410G>A, NM_001354061.2:c.1038G>A, NM_001354061.1:c.1038G>A, NM_001320854.2:c.1176G>A, NM_001320854.1:c.1176G>A, NM_001354055.2:c.1176G>A, NM_001354055.1:c.1176G>A, XM_047430725.1:c.1698G>A, XM_047430730.1:c.1698G>A, XM_047430722.1:c.1881G>A, XM_047430723.1:c.1794G>A, XM_047430739.1:c.1410G>A, XM_047430724.1:c.1794G>A, NM_001320852.1:c.1881G>A, XM_047430726.1:c.1665G>A, XM_047430740.1:c.1410G>A, NM_001354047.1:c.1665G>A, XM_047430728.1:c.1665G>A, XM_047430729.1:c.1794G>A, XM_047430732.1:c.1665G>A, NM_001354048.1:c.1410G>A, NM_001354056.1:c.1410G>A, XM_047430734.1:c.1410G>A, XM_047430738.1:c.1410G>A, XM_047430733.1:c.1410G>A, XM_047430735.1:c.1410G>A, XM_047430727.1:c.1635G>A, XM_047430737.1:c.1410G>A, XM_047430742.1:c.1410G>A, XM_047430745.1:c.1410G>A, XM_047430736.1:c.1410G>A, XM_047430741.1:c.1410G>A, XM_047430744.1:c.1410G>A, XM_047430743.1:c.1410G>A, XM_047430746.1:c.999G>A, XR_007063704.1:n.2789G>A

                  9.

                  rs1482156407 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:111283304 (GRCh38)
                    13:111935651 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:111283303:C:T
                    Gene:
                    ARHGEF7 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000013.11:g.111283304C>T, NC_000013.10:g.111935651C>T, NM_003899.5:c.1420C>T, NM_003899.4:c.1420C>T, NM_003899.3:c.1420C>T, XM_006719956.4:c.1891C>T, XM_006719956.3:c.1891C>T, XM_006719956.2:c.1891C>T, XM_006719956.1:c.1891C>T, NM_145735.3:c.1891C>T, NM_145735.2:c.1891C>T, NM_001113511.2:c.1954C>T, NM_001113511.1:c.1954C>T, NM_001113512.2:c.1804C>T, NM_001113512.1:c.1804C>T, XM_017020815.2:c.1675C>T, XM_017020815.1:c.1675C>T, NM_001354046.2:c.1891C>T, NM_001354046.1:c.1891C>T, NM_001354060.2:c.1420C>T, NM_001354060.1:c.1420C>T, NM_001354051.2:c.1420C>T, NM_001354051.1:c.1420C>T, NM_001354059.2:c.1420C>T, NM_001354059.1:c.1420C>T, NM_001354058.2:c.1420C>T, NM_001354058.1:c.1420C>T, NM_001330597.2:c.1420C>T, NM_001330597.1:c.1420C>T, NM_001354049.2:c.1420C>T, NM_001354049.1:c.1420C>T, NM_001354057.2:c.1420C>T, NM_001354057.1:c.1420C>T, NM_001354050.2:c.1420C>T, NM_001354050.1:c.1420C>T, NM_001113513.2:c.1420C>T, NM_001113513.1:c.1420C>T, NM_001354054.2:c.1420C>T, NM_001354054.1:c.1420C>T, NM_001354052.2:c.1420C>T, NM_001354052.1:c.1420C>T, NM_001330598.2:c.1420C>T, NM_001330598.1:c.1420C>T, NM_001320853.2:c.1645C>T, NM_001320853.1:c.1645C>T, XM_017020822.2:c.1420C>T, XM_017020822.1:c.1420C>T, NM_001354053.2:c.1420C>T, NM_001354053.1:c.1420C>T, NM_001320851.2:c.1420C>T, NM_001320851.1:c.1420C>T, NM_001354061.2:c.1048C>T, NM_001354061.1:c.1048C>T, NM_001320854.2:c.1186C>T, NM_001320854.1:c.1186C>T, NM_001354055.2:c.1186C>T, NM_001354055.1:c.1186C>T, XM_047430725.1:c.1708C>T, XM_047430730.1:c.1708C>T, XM_047430722.1:c.1891C>T, XM_047430723.1:c.1804C>T, XM_047430739.1:c.1420C>T, XM_047430724.1:c.1804C>T, NM_001320852.1:c.1891C>T, XM_047430726.1:c.1675C>T, XM_047430740.1:c.1420C>T, NM_001354047.1:c.1675C>T, XM_047430728.1:c.1675C>T, XM_047430729.1:c.1804C>T, XM_047430732.1:c.1675C>T, NM_001354048.1:c.1420C>T, NM_001354056.1:c.1420C>T, XM_047430734.1:c.1420C>T, XM_047430738.1:c.1420C>T, XM_047430733.1:c.1420C>T, XM_047430735.1:c.1420C>T, XM_047430727.1:c.1645C>T, XM_047430737.1:c.1420C>T, XM_047430742.1:c.1420C>T, XM_047430745.1:c.1420C>T, XM_047430736.1:c.1420C>T, XM_047430741.1:c.1420C>T, XM_047430744.1:c.1420C>T, XM_047430743.1:c.1420C>T, XM_047430746.1:c.1009C>T, XR_007063704.1:n.2799C>T

                    10.

                    rs1478761721 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      13:111273945 (GRCh38)
                      13:111926292 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:111273944:A:T
                      Gene:
                      ARHGEF7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000111/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000013.11:g.111273945A>T, NC_000013.10:g.111926292A>T, NM_003899.5:c.734A>T, NM_003899.4:c.734A>T, NM_003899.3:c.734A>T, XM_006719956.4:c.1205A>T, XM_006719956.3:c.1205A>T, XM_006719956.2:c.1205A>T, XM_006719956.1:c.1205A>T, NM_145735.3:c.1205A>T, NM_145735.2:c.1205A>T, XM_011521133.3:c.1205A>T, XM_011521133.2:c.1205A>T, XM_011521133.1:c.1205A>T, NM_001113511.2:c.1268A>T, NM_001113511.1:c.1268A>T, NM_001113512.2:c.1118A>T, NM_001113512.1:c.1118A>T, XM_017020815.2:c.989A>T, XM_017020815.1:c.989A>T, NM_001354046.2:c.1205A>T, NM_001354046.1:c.1205A>T, NM_001354060.2:c.734A>T, NM_001354060.1:c.734A>T, NM_001354051.2:c.734A>T, NM_001354051.1:c.734A>T, NM_001354059.2:c.734A>T, NM_001354059.1:c.734A>T, NM_001354058.2:c.734A>T, NM_001354058.1:c.734A>T, NM_001330597.2:c.734A>T, NM_001330597.1:c.734A>T, NM_001354049.2:c.734A>T, NM_001354049.1:c.734A>T, NM_001354057.2:c.734A>T, NM_001354057.1:c.734A>T, NM_001354050.2:c.734A>T, NM_001354050.1:c.734A>T, NM_001113513.2:c.734A>T, NM_001113513.1:c.734A>T, NM_001354054.2:c.734A>T, NM_001354054.1:c.734A>T, NM_001354052.2:c.734A>T, NM_001354052.1:c.734A>T, NM_001330598.2:c.734A>T, NM_001330598.1:c.734A>T, NM_001320853.2:c.959A>T, NM_001320853.1:c.959A>T, XM_017020822.2:c.734A>T, XM_017020822.1:c.734A>T, NM_001354053.2:c.734A>T, NM_001354053.1:c.734A>T, NM_001320851.2:c.734A>T, NM_001320851.1:c.734A>T, NM_001354061.2:c.362A>T, NM_001354061.1:c.362A>T, NM_001320854.2:c.500A>T, NM_001320854.1:c.500A>T, NM_001354055.2:c.500A>T, NM_001354055.1:c.500A>T, XM_047430725.1:c.1022A>T, XM_047430730.1:c.1022A>T, XM_047430722.1:c.1205A>T, XM_047430723.1:c.1118A>T, XM_047430739.1:c.734A>T, XM_047430724.1:c.1118A>T, NM_001320852.1:c.1205A>T, XM_047430726.1:c.989A>T, XM_047430740.1:c.734A>T, NM_001354047.1:c.989A>T, XM_047430728.1:c.989A>T, XM_047430729.1:c.1118A>T, XM_047430732.1:c.989A>T, NM_001354048.1:c.734A>T, NM_001354056.1:c.734A>T, XM_047430734.1:c.734A>T, XM_047430738.1:c.734A>T, XM_047430733.1:c.734A>T, XM_047430735.1:c.734A>T, XM_047430727.1:c.959A>T, XM_047430737.1:c.734A>T, XM_047430742.1:c.734A>T, XM_047430745.1:c.734A>T, XM_047430736.1:c.734A>T, XM_047430741.1:c.734A>T, XM_047430744.1:c.734A>T, XM_047430743.1:c.734A>T, XM_047430746.1:c.323A>T, XR_007063704.1:n.2113A>T, XM_047430747.1:c.734A>T, XM_047430748.1:c.734A>T, XM_047430750.1:c.734A>T, XM_047430751.1:c.734A>T, NP_003890.1:p.His245Leu, XP_006720019.1:p.His402Leu, NP_663788.1:p.His402Leu, XP_011519435.1:p.His402Leu, NP_001106983.1:p.His423Leu, NP_001106984.1:p.His373Leu, XP_016876304.1:p.His330Leu, NP_001340975.1:p.His402Leu, NP_001340989.1:p.His245Leu, NP_001340980.1:p.His245Leu, NP_001340988.1:p.His245Leu, NP_001340987.1:p.His245Leu, NP_001317526.1:p.His245Leu, NP_001340978.1:p.His245Leu, NP_001340986.1:p.His245Leu, NP_001340979.1:p.His245Leu, NP_001106985.1:p.His245Leu, NP_001340983.1:p.His245Leu, NP_001340981.1:p.His245Leu, NP_001317527.1:p.His245Leu, NP_001307782.1:p.His320Leu, XP_016876311.1:p.His245Leu, NP_001340982.1:p.His245Leu, NP_001307780.1:p.His245Leu, NP_001340990.1:p.His121Leu, NP_001307783.1:p.His167Leu, NP_001340984.1:p.His167Leu, XP_047286681.1:p.His341Leu, XP_047286686.1:p.His341Leu, XP_047286678.1:p.His402Leu, XP_047286679.1:p.His373Leu, XP_047286695.1:p.His245Leu, XP_047286680.1:p.His373Leu, NP_001307781.1:p.His402Leu, XP_047286682.1:p.His330Leu, XP_047286696.1:p.His245Leu, NP_001340976.1:p.His330Leu, XP_047286684.1:p.His330Leu, XP_047286685.1:p.His373Leu, XP_047286688.1:p.His330Leu, NP_001340977.1:p.His245Leu, NP_001340985.1:p.His245Leu, XP_047286690.1:p.His245Leu, XP_047286694.1:p.His245Leu, XP_047286689.1:p.His245Leu, XP_047286691.1:p.His245Leu, XP_047286683.1:p.His320Leu, XP_047286693.1:p.His245Leu, XP_047286698.1:p.His245Leu, XP_047286701.1:p.His245Leu, XP_047286692.1:p.His245Leu, XP_047286697.1:p.His245Leu, XP_047286700.1:p.His245Leu, XP_047286699.1:p.His245Leu, XP_047286702.1:p.His108Leu, XP_047286703.1:p.His245Leu, XP_047286704.1:p.His245Leu, XP_047286706.1:p.His245Leu, XP_047286707.1:p.His245Leu

                      11.

                      rs1477769815 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:111283260 (GRCh38)
                        13:111935607 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:111283259:A:G
                        Gene:
                        ARHGEF7 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000013.11:g.111283260A>G, NC_000013.10:g.111935607A>G, NM_003899.5:c.1376A>G, NM_003899.4:c.1376A>G, NM_003899.3:c.1376A>G, XM_006719956.4:c.1847A>G, XM_006719956.3:c.1847A>G, XM_006719956.2:c.1847A>G, XM_006719956.1:c.1847A>G, NM_145735.3:c.1847A>G, NM_145735.2:c.1847A>G, NM_001113511.2:c.1910A>G, NM_001113511.1:c.1910A>G, NM_001113512.2:c.1760A>G, NM_001113512.1:c.1760A>G, XM_017020815.2:c.1631A>G, XM_017020815.1:c.1631A>G, NM_001354046.2:c.1847A>G, NM_001354046.1:c.1847A>G, NM_001354060.2:c.1376A>G, NM_001354060.1:c.1376A>G, NM_001354051.2:c.1376A>G, NM_001354051.1:c.1376A>G, NM_001354059.2:c.1376A>G, NM_001354059.1:c.1376A>G, NM_001354058.2:c.1376A>G, NM_001354058.1:c.1376A>G, NM_001330597.2:c.1376A>G, NM_001330597.1:c.1376A>G, NM_001354049.2:c.1376A>G, NM_001354049.1:c.1376A>G, NM_001354057.2:c.1376A>G, NM_001354057.1:c.1376A>G, NM_001354050.2:c.1376A>G, NM_001354050.1:c.1376A>G, NM_001113513.2:c.1376A>G, NM_001113513.1:c.1376A>G, NM_001354054.2:c.1376A>G, NM_001354054.1:c.1376A>G, NM_001354052.2:c.1376A>G, NM_001354052.1:c.1376A>G, NM_001330598.2:c.1376A>G, NM_001330598.1:c.1376A>G, NM_001320853.2:c.1601A>G, NM_001320853.1:c.1601A>G, XM_017020822.2:c.1376A>G, XM_017020822.1:c.1376A>G, NM_001354053.2:c.1376A>G, NM_001354053.1:c.1376A>G, NM_001320851.2:c.1376A>G, NM_001320851.1:c.1376A>G, NM_001354061.2:c.1004A>G, NM_001354061.1:c.1004A>G, NM_001320854.2:c.1142A>G, NM_001320854.1:c.1142A>G, NM_001354055.2:c.1142A>G, NM_001354055.1:c.1142A>G, XM_047430725.1:c.1664A>G, XM_047430730.1:c.1664A>G, XM_047430722.1:c.1847A>G, XM_047430723.1:c.1760A>G, XM_047430739.1:c.1376A>G, XM_047430724.1:c.1760A>G, NM_001320852.1:c.1847A>G, XM_047430726.1:c.1631A>G, XM_047430740.1:c.1376A>G, NM_001354047.1:c.1631A>G, XM_047430728.1:c.1631A>G, XM_047430729.1:c.1760A>G, XM_047430732.1:c.1631A>G, NM_001354048.1:c.1376A>G, NM_001354056.1:c.1376A>G, XM_047430734.1:c.1376A>G, XM_047430738.1:c.1376A>G, XM_047430733.1:c.1376A>G, XM_047430735.1:c.1376A>G, XM_047430727.1:c.1601A>G, XM_047430737.1:c.1376A>G, XM_047430742.1:c.1376A>G, XM_047430745.1:c.1376A>G, XM_047430736.1:c.1376A>G, XM_047430741.1:c.1376A>G, XM_047430744.1:c.1376A>G, XM_047430743.1:c.1376A>G, XM_047430746.1:c.965A>G, XR_007063704.1:n.2755A>G, NP_003890.1:p.Asn459Ser, XP_006720019.1:p.Asn616Ser, NP_663788.1:p.Asn616Ser, NP_001106983.1:p.Asn637Ser, NP_001106984.1:p.Asn587Ser, XP_016876304.1:p.Asn544Ser, NP_001340975.1:p.Asn616Ser, NP_001340989.1:p.Asn459Ser, NP_001340980.1:p.Asn459Ser, NP_001340988.1:p.Asn459Ser, NP_001340987.1:p.Asn459Ser, NP_001317526.1:p.Asn459Ser, NP_001340978.1:p.Asn459Ser, NP_001340986.1:p.Asn459Ser, NP_001340979.1:p.Asn459Ser, NP_001106985.1:p.Asn459Ser, NP_001340983.1:p.Asn459Ser, NP_001340981.1:p.Asn459Ser, NP_001317527.1:p.Asn459Ser, NP_001307782.1:p.Asn534Ser, XP_016876311.1:p.Asn459Ser, NP_001340982.1:p.Asn459Ser, NP_001307780.1:p.Asn459Ser, NP_001340990.1:p.Asn335Ser, NP_001307783.1:p.Asn381Ser, NP_001340984.1:p.Asn381Ser, XP_047286681.1:p.Asn555Ser, XP_047286686.1:p.Asn555Ser, XP_047286678.1:p.Asn616Ser, XP_047286679.1:p.Asn587Ser, XP_047286695.1:p.Asn459Ser, XP_047286680.1:p.Asn587Ser, NP_001307781.1:p.Asn616Ser, XP_047286682.1:p.Asn544Ser, XP_047286696.1:p.Asn459Ser, NP_001340976.1:p.Asn544Ser, XP_047286684.1:p.Asn544Ser, XP_047286685.1:p.Asn587Ser, XP_047286688.1:p.Asn544Ser, NP_001340977.1:p.Asn459Ser, NP_001340985.1:p.Asn459Ser, XP_047286690.1:p.Asn459Ser, XP_047286694.1:p.Asn459Ser, XP_047286689.1:p.Asn459Ser, XP_047286691.1:p.Asn459Ser, XP_047286683.1:p.Asn534Ser, XP_047286693.1:p.Asn459Ser, XP_047286698.1:p.Asn459Ser, XP_047286701.1:p.Asn459Ser, XP_047286692.1:p.Asn459Ser, XP_047286697.1:p.Asn459Ser, XP_047286700.1:p.Asn459Ser, XP_047286699.1:p.Asn459Ser, XP_047286702.1:p.Asn322Ser

                        12.

                        rs1476787617 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          13:111280555 (GRCh38)
                          13:111932902 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:111280554:A:T
                          Gene:
                          ARHGEF7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000013.11:g.111280555A>T, NC_000013.10:g.111932902A>T, NM_003899.5:c.1132A>T, NM_003899.4:c.1132A>T, NM_003899.3:c.1132A>T, XM_006719956.4:c.1603A>T, XM_006719956.3:c.1603A>T, XM_006719956.2:c.1603A>T, XM_006719956.1:c.1603A>T, NM_145735.3:c.1603A>T, NM_145735.2:c.1603A>T, XM_011521133.3:c.*9A>T, XM_011521133.2:c.*9A>T, XM_011521133.1:c.*9A>T, NM_001113511.2:c.1666A>T, NM_001113511.1:c.1666A>T, NM_001113512.2:c.1516A>T, NM_001113512.1:c.1516A>T, XM_017020815.2:c.1387A>T, XM_017020815.1:c.1387A>T, NM_001354046.2:c.1603A>T, NM_001354046.1:c.1603A>T, NM_001354060.2:c.1132A>T, NM_001354060.1:c.1132A>T, NM_001354051.2:c.1132A>T, NM_001354051.1:c.1132A>T, NM_001354059.2:c.1132A>T, NM_001354059.1:c.1132A>T, NM_001354058.2:c.1132A>T, NM_001354058.1:c.1132A>T, NM_001330597.2:c.1132A>T, NM_001330597.1:c.1132A>T, NM_001354049.2:c.1132A>T, NM_001354049.1:c.1132A>T, NM_001354057.2:c.1132A>T, NM_001354057.1:c.1132A>T, NM_001354050.2:c.1132A>T, NM_001354050.1:c.1132A>T, NM_001113513.2:c.1132A>T, NM_001113513.1:c.1132A>T, NM_001354054.2:c.1132A>T, NM_001354054.1:c.1132A>T, NM_001354052.2:c.1132A>T, NM_001354052.1:c.1132A>T, NM_001330598.2:c.1132A>T, NM_001330598.1:c.1132A>T, NM_001320853.2:c.1357A>T, NM_001320853.1:c.1357A>T, XM_017020822.2:c.1132A>T, XM_017020822.1:c.1132A>T, NM_001354053.2:c.1132A>T, NM_001354053.1:c.1132A>T, NM_001320851.2:c.1132A>T, NM_001320851.1:c.1132A>T, NM_001354061.2:c.760A>T, NM_001354061.1:c.760A>T, NM_001320854.2:c.898A>T, NM_001320854.1:c.898A>T, NM_001354055.2:c.898A>T, NM_001354055.1:c.898A>T, XM_047430725.1:c.1420A>T, XM_047430730.1:c.1420A>T, XM_047430722.1:c.1603A>T, XM_047430723.1:c.1516A>T, XM_047430739.1:c.1132A>T, XM_047430724.1:c.1516A>T, NM_001320852.1:c.1603A>T, XM_047430726.1:c.1387A>T, XM_047430740.1:c.1132A>T, NM_001354047.1:c.1387A>T, XM_047430728.1:c.1387A>T, XM_047430729.1:c.1516A>T, XM_047430732.1:c.1387A>T, NM_001354048.1:c.1132A>T, NM_001354056.1:c.1132A>T, XM_047430734.1:c.1132A>T, XM_047430738.1:c.1132A>T, XM_047430733.1:c.1132A>T, XM_047430735.1:c.1132A>T, XM_047430727.1:c.1357A>T, XM_047430737.1:c.1132A>T, XM_047430742.1:c.1132A>T, XM_047430745.1:c.1132A>T, XM_047430736.1:c.1132A>T, XM_047430741.1:c.1132A>T, XM_047430744.1:c.1132A>T, XM_047430743.1:c.1132A>T, XM_047430746.1:c.721A>T, XR_007063704.1:n.2511A>T, XM_047430747.1:c.1132A>T, XM_047430748.1:c.*9A>T, XM_047430750.1:c.*9A>T, XM_047430751.1:c.*9A>T, NP_003890.1:p.Ile378Leu, XP_006720019.1:p.Ile535Leu, NP_663788.1:p.Ile535Leu, NP_001106983.1:p.Ile556Leu, NP_001106984.1:p.Ile506Leu, XP_016876304.1:p.Ile463Leu, NP_001340975.1:p.Ile535Leu, NP_001340989.1:p.Ile378Leu, NP_001340980.1:p.Ile378Leu, NP_001340988.1:p.Ile378Leu, NP_001340987.1:p.Ile378Leu, NP_001317526.1:p.Ile378Leu, NP_001340978.1:p.Ile378Leu, NP_001340986.1:p.Ile378Leu, NP_001340979.1:p.Ile378Leu, NP_001106985.1:p.Ile378Leu, NP_001340983.1:p.Ile378Leu, NP_001340981.1:p.Ile378Leu, NP_001317527.1:p.Ile378Leu, NP_001307782.1:p.Ile453Leu, XP_016876311.1:p.Ile378Leu, NP_001340982.1:p.Ile378Leu, NP_001307780.1:p.Ile378Leu, NP_001340990.1:p.Ile254Leu, NP_001307783.1:p.Ile300Leu, NP_001340984.1:p.Ile300Leu, XP_047286681.1:p.Ile474Leu, XP_047286686.1:p.Ile474Leu, XP_047286678.1:p.Ile535Leu, XP_047286679.1:p.Ile506Leu, XP_047286695.1:p.Ile378Leu, XP_047286680.1:p.Ile506Leu, NP_001307781.1:p.Ile535Leu, XP_047286682.1:p.Ile463Leu, XP_047286696.1:p.Ile378Leu, NP_001340976.1:p.Ile463Leu, XP_047286684.1:p.Ile463Leu, XP_047286685.1:p.Ile506Leu, XP_047286688.1:p.Ile463Leu, NP_001340977.1:p.Ile378Leu, NP_001340985.1:p.Ile378Leu, XP_047286690.1:p.Ile378Leu, XP_047286694.1:p.Ile378Leu, XP_047286689.1:p.Ile378Leu, XP_047286691.1:p.Ile378Leu, XP_047286683.1:p.Ile453Leu, XP_047286693.1:p.Ile378Leu, XP_047286698.1:p.Ile378Leu, XP_047286701.1:p.Ile378Leu, XP_047286692.1:p.Ile378Leu, XP_047286697.1:p.Ile378Leu, XP_047286700.1:p.Ile378Leu, XP_047286699.1:p.Ile378Leu, XP_047286702.1:p.Ile241Leu, XP_047286703.1:p.Ile378Leu

                          13.

                          rs1476757057 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:111267567 (GRCh38)
                            13:111919914 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:111267566:A:G
                            Gene:
                            ARHGEF7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.111267567A>G, NC_000013.10:g.111919914A>G, NM_003899.5:c.499A>G, NM_003899.4:c.499A>G, NM_003899.3:c.499A>G, XM_006719956.4:c.970A>G, XM_006719956.3:c.970A>G, XM_006719956.2:c.970A>G, XM_006719956.1:c.970A>G, NM_145735.3:c.970A>G, NM_145735.2:c.970A>G, XM_011521133.3:c.970A>G, XM_011521133.2:c.970A>G, XM_011521133.1:c.970A>G, NM_001113511.2:c.1033A>G, NM_001113511.1:c.1033A>G, NM_001113512.2:c.883A>G, NM_001113512.1:c.883A>G, XM_017020815.2:c.754A>G, XM_017020815.1:c.754A>G, NM_001354046.2:c.970A>G, NM_001354046.1:c.970A>G, NM_001354060.2:c.499A>G, NM_001354060.1:c.499A>G, NM_001354051.2:c.499A>G, NM_001354051.1:c.499A>G, NM_001354059.2:c.499A>G, NM_001354059.1:c.499A>G, NM_001354058.2:c.499A>G, NM_001354058.1:c.499A>G, NM_001330597.2:c.499A>G, NM_001330597.1:c.499A>G, NM_001354049.2:c.499A>G, NM_001354049.1:c.499A>G, NM_001354057.2:c.499A>G, NM_001354057.1:c.499A>G, NM_001354050.2:c.499A>G, NM_001354050.1:c.499A>G, NM_001113513.2:c.499A>G, NM_001113513.1:c.499A>G, NM_001354054.2:c.499A>G, NM_001354054.1:c.499A>G, NM_001354052.2:c.499A>G, NM_001354052.1:c.499A>G, NM_001330598.2:c.499A>G, NM_001330598.1:c.499A>G, NM_001320853.2:c.724A>G, NM_001320853.1:c.724A>G, XM_017020822.2:c.499A>G, XM_017020822.1:c.499A>G, NM_001354053.2:c.499A>G, NM_001354053.1:c.499A>G, NM_001320851.2:c.499A>G, NM_001320851.1:c.499A>G, NM_001354061.2:c.127A>G, NM_001354061.1:c.127A>G, NM_001320854.2:c.265A>G, NM_001320854.1:c.265A>G, NM_001354055.2:c.265A>G, NM_001354055.1:c.265A>G, XM_047430725.1:c.787A>G, XM_047430730.1:c.787A>G, XM_047430722.1:c.970A>G, XM_047430723.1:c.883A>G, XM_047430739.1:c.499A>G, XM_047430724.1:c.883A>G, NM_001320852.1:c.970A>G, XM_047430726.1:c.754A>G, XM_047430740.1:c.499A>G, NM_001354047.1:c.754A>G, XM_047430728.1:c.754A>G, XM_047430729.1:c.883A>G, XM_047430732.1:c.754A>G, NM_001354048.1:c.499A>G, NM_001354056.1:c.499A>G, XM_047430734.1:c.499A>G, XM_047430738.1:c.499A>G, XM_047430733.1:c.499A>G, XM_047430735.1:c.499A>G, XM_047430727.1:c.724A>G, XM_047430737.1:c.499A>G, XM_047430742.1:c.499A>G, XM_047430745.1:c.499A>G, XM_047430736.1:c.499A>G, XM_047430741.1:c.499A>G, XM_047430744.1:c.499A>G, XM_047430743.1:c.499A>G, XM_047430746.1:c.88A>G, XR_007063704.1:n.1878A>G, XM_047430747.1:c.499A>G, XM_047430748.1:c.499A>G, XM_047430750.1:c.499A>G, XM_047430751.1:c.499A>G, NP_003890.1:p.Arg167Gly, XP_006720019.1:p.Arg324Gly, NP_663788.1:p.Arg324Gly, XP_011519435.1:p.Arg324Gly, NP_001106983.1:p.Arg345Gly, NP_001106984.1:p.Arg295Gly, XP_016876304.1:p.Arg252Gly, NP_001340975.1:p.Arg324Gly, NP_001340989.1:p.Arg167Gly, NP_001340980.1:p.Arg167Gly, NP_001340988.1:p.Arg167Gly, NP_001340987.1:p.Arg167Gly, NP_001317526.1:p.Arg167Gly, NP_001340978.1:p.Arg167Gly, NP_001340986.1:p.Arg167Gly, NP_001340979.1:p.Arg167Gly, NP_001106985.1:p.Arg167Gly, NP_001340983.1:p.Arg167Gly, NP_001340981.1:p.Arg167Gly, NP_001317527.1:p.Arg167Gly, NP_001307782.1:p.Arg242Gly, XP_016876311.1:p.Arg167Gly, NP_001340982.1:p.Arg167Gly, NP_001307780.1:p.Arg167Gly, NP_001340990.1:p.Arg43Gly, NP_001307783.1:p.Arg89Gly, NP_001340984.1:p.Arg89Gly, XP_047286681.1:p.Arg263Gly, XP_047286686.1:p.Arg263Gly, XP_047286678.1:p.Arg324Gly, XP_047286679.1:p.Arg295Gly, XP_047286695.1:p.Arg167Gly, XP_047286680.1:p.Arg295Gly, NP_001307781.1:p.Arg324Gly, XP_047286682.1:p.Arg252Gly, XP_047286696.1:p.Arg167Gly, NP_001340976.1:p.Arg252Gly, XP_047286684.1:p.Arg252Gly, XP_047286685.1:p.Arg295Gly, XP_047286688.1:p.Arg252Gly, NP_001340977.1:p.Arg167Gly, NP_001340985.1:p.Arg167Gly, XP_047286690.1:p.Arg167Gly, XP_047286694.1:p.Arg167Gly, XP_047286689.1:p.Arg167Gly, XP_047286691.1:p.Arg167Gly, XP_047286683.1:p.Arg242Gly, XP_047286693.1:p.Arg167Gly, XP_047286698.1:p.Arg167Gly, XP_047286701.1:p.Arg167Gly, XP_047286692.1:p.Arg167Gly, XP_047286697.1:p.Arg167Gly, XP_047286700.1:p.Arg167Gly, XP_047286699.1:p.Arg167Gly, XP_047286702.1:p.Arg30Gly, XP_047286703.1:p.Arg167Gly, XP_047286704.1:p.Arg167Gly, XP_047286706.1:p.Arg167Gly, XP_047286707.1:p.Arg167Gly

                            14.

                            rs1475307390 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:111233260 (GRCh38)
                              13:111885607 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:111233259:T:C
                              Gene:
                              ARHGEF7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.111233260T>C, NC_000013.10:g.111885607T>C, NM_003899.5:c.255T>C, NM_003899.4:c.255T>C, NM_003899.3:c.255T>C, XM_006719956.4:c.726T>C, XM_006719956.3:c.726T>C, XM_006719956.2:c.726T>C, XM_006719956.1:c.726T>C, NM_145735.3:c.726T>C, NM_145735.2:c.726T>C, XM_011521133.3:c.726T>C, XM_011521133.2:c.726T>C, XM_011521133.1:c.726T>C, NM_001113511.2:c.789T>C, NM_001113511.1:c.789T>C, NM_001113512.2:c.639T>C, NM_001113512.1:c.639T>C, XM_017020815.2:c.510T>C, XM_017020815.1:c.510T>C, NM_001354046.2:c.726T>C, NM_001354046.1:c.726T>C, NM_001354060.2:c.255T>C, NM_001354060.1:c.255T>C, NM_001354051.2:c.255T>C, NM_001354051.1:c.255T>C, NM_001354059.2:c.255T>C, NM_001354059.1:c.255T>C, NM_001354058.2:c.255T>C, NM_001354058.1:c.255T>C, NM_001330597.2:c.255T>C, NM_001330597.1:c.255T>C, NM_001354049.2:c.255T>C, NM_001354049.1:c.255T>C, NM_001354057.2:c.255T>C, NM_001354057.1:c.255T>C, NM_001354050.2:c.255T>C, NM_001354050.1:c.255T>C, NM_001113513.2:c.255T>C, NM_001113513.1:c.255T>C, NM_001354054.2:c.255T>C, NM_001354054.1:c.255T>C, NM_001354052.2:c.255T>C, NM_001354052.1:c.255T>C, NM_001330598.2:c.255T>C, NM_001330598.1:c.255T>C, NM_001320853.2:c.480T>C, NM_001320853.1:c.480T>C, XM_017020822.2:c.255T>C, XM_017020822.1:c.255T>C, NM_001354053.2:c.255T>C, NM_001354053.1:c.255T>C, NM_001320851.2:c.255T>C, NM_001320851.1:c.255T>C, XM_047430725.1:c.543T>C, XM_047430730.1:c.543T>C, XM_047430722.1:c.726T>C, XM_047430723.1:c.639T>C, XM_047430739.1:c.255T>C, XM_047430724.1:c.639T>C, NM_001320852.1:c.726T>C, XM_047430726.1:c.510T>C, XM_047430740.1:c.255T>C, NM_001354047.1:c.510T>C, XM_047430728.1:c.510T>C, XM_047430729.1:c.639T>C, XM_047430732.1:c.510T>C, NM_001354048.1:c.255T>C, NM_001354056.1:c.255T>C, XM_047430734.1:c.255T>C, XM_047430738.1:c.255T>C, XM_047430733.1:c.255T>C, XM_047430735.1:c.255T>C, XM_047430727.1:c.480T>C, XM_047430737.1:c.255T>C, XM_047430742.1:c.255T>C, XM_047430745.1:c.255T>C, XM_047430736.1:c.255T>C, XM_047430741.1:c.255T>C, XM_047430744.1:c.255T>C, XM_047430743.1:c.255T>C, XR_007063704.1:n.1634T>C, XM_047430747.1:c.255T>C, XM_047430748.1:c.255T>C, XM_047430750.1:c.255T>C, XM_047430751.1:c.255T>C

                              15.

                              rs1473645179 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:111217711 (GRCh38)
                                13:111870058 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:111217710:A:G
                                Gene:
                                ARHGEF7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.111217711A>G, NC_000013.10:g.111870058A>G, NM_003899.5:c.30A>G, NM_003899.4:c.30A>G, NM_003899.3:c.30A>G, XM_006719956.4:c.501A>G, XM_006719956.3:c.501A>G, XM_006719956.2:c.501A>G, XM_006719956.1:c.501A>G, NM_145735.3:c.501A>G, NM_145735.2:c.501A>G, XM_011521133.3:c.501A>G, XM_011521133.2:c.501A>G, XM_011521133.1:c.501A>G, NM_001113511.2:c.564A>G, NM_001113511.1:c.564A>G, NM_001113512.2:c.414A>G, NM_001113512.1:c.414A>G, XM_017020815.2:c.285A>G, XM_017020815.1:c.285A>G, NM_001354046.2:c.501A>G, NM_001354046.1:c.501A>G, NM_001354060.2:c.30A>G, NM_001354060.1:c.30A>G, NM_001354051.2:c.30A>G, NM_001354051.1:c.30A>G, NM_001354059.2:c.30A>G, NM_001354059.1:c.30A>G, NM_001354058.2:c.30A>G, NM_001354058.1:c.30A>G, NM_001330597.2:c.30A>G, NM_001330597.1:c.30A>G, NM_001354049.2:c.30A>G, NM_001354049.1:c.30A>G, NM_001354057.2:c.30A>G, NM_001354057.1:c.30A>G, NM_001354050.2:c.30A>G, NM_001354050.1:c.30A>G, NM_001113513.2:c.30A>G, NM_001113513.1:c.30A>G, NM_001354054.2:c.30A>G, NM_001354054.1:c.30A>G, NM_001354052.2:c.30A>G, NM_001354052.1:c.30A>G, NM_001330598.2:c.30A>G, NM_001330598.1:c.30A>G, NM_001320853.2:c.255A>G, NM_001320853.1:c.255A>G, XM_017020822.2:c.30A>G, XM_017020822.1:c.30A>G, NM_001354053.2:c.30A>G, NM_001354053.1:c.30A>G, NM_001320851.2:c.30A>G, NM_001320851.1:c.30A>G, XM_047430725.1:c.318A>G, XM_047430730.1:c.318A>G, XM_047430722.1:c.501A>G, XM_047430723.1:c.414A>G, XM_047430739.1:c.30A>G, XM_047430724.1:c.414A>G, NM_001320852.1:c.501A>G, XM_047430726.1:c.285A>G, XM_047430740.1:c.30A>G, NM_001354047.1:c.285A>G, XM_047430728.1:c.285A>G, XM_047430729.1:c.414A>G, XM_047430732.1:c.285A>G, NM_001354048.1:c.30A>G, NM_001354056.1:c.30A>G, XM_047430734.1:c.30A>G, XM_047430738.1:c.30A>G, XM_047430733.1:c.30A>G, XM_047430735.1:c.30A>G, XM_047430727.1:c.255A>G, XM_047430737.1:c.30A>G, XM_047430742.1:c.30A>G, XM_047430745.1:c.30A>G, XM_047430736.1:c.30A>G, XM_047430741.1:c.30A>G, XM_047430744.1:c.30A>G, XM_047430743.1:c.30A>G, XR_007063704.1:n.1409A>G, XM_047430747.1:c.30A>G, XM_047430748.1:c.30A>G, XM_047430750.1:c.30A>G, XM_047430751.1:c.30A>G

                                16.

                                rs1472750008 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  13:111300755 (GRCh38)
                                  13:111953102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:111300754:C:G
                                  Gene:
                                  ARHGEF7 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000013.11:g.111300755C>G, NC_000013.10:g.111953102C>G, NM_003899.5:c.1671C>G, NM_003899.4:c.1671C>G, NM_003899.3:c.1671C>G, XM_006719956.4:c.2178C>G, XM_006719956.3:c.2178C>G, XM_006719956.2:c.2178C>G, XM_006719956.1:c.2178C>G, XM_017020815.2:c.1962C>G, XM_017020815.1:c.1962C>G, NM_001354046.2:c.2319C>G, NM_001354046.1:c.2319C>G, NM_001354051.2:c.1848C>G, NM_001354051.1:c.1848C>G, NM_001354049.2:c.1848C>G, NM_001354049.1:c.1848C>G, NM_001354050.2:c.1848C>G, NM_001354050.1:c.1848C>G, NM_001113513.2:c.1671C>G, NM_001113513.1:c.1671C>G, NM_001354054.2:c.1707C>G, NM_001354054.1:c.1707C>G, NM_001354052.2:c.1671C>G, NM_001354052.1:c.1671C>G, NM_001320853.2:c.1896C>G, NM_001320853.1:c.1896C>G, XM_017020822.2:c.1707C>G, XM_017020822.1:c.1707C>G, NM_001354053.2:c.1671C>G, NM_001354053.1:c.1671C>G, NM_001320851.2:c.1671C>G, NM_001320851.1:c.1671C>G, NM_001354055.2:c.1614C>G, NM_001354055.1:c.1614C>G, XM_047430725.1:c.2172C>G, XM_047430730.1:c.1959C>G, XM_047430722.1:c.2355C>G, XM_047430723.1:c.2268C>G, XM_047430739.1:c.1884C>G, XM_047430724.1:c.2232C>G, NM_001320852.1:c.2142C>G, XM_047430726.1:c.2139C>G, XM_047430740.1:c.1884C>G, XM_047430728.1:c.2103C>G, XM_047430729.1:c.2055C>G, XM_047430732.1:c.1926C>G, NM_001354048.1:c.1848C>G, XM_047430734.1:c.1884C>G, XM_047430738.1:c.1884C>G, XM_047430733.1:c.1884C>G, XM_047430735.1:c.1884C>G, XM_047430727.1:c.2109C>G, XM_047430737.1:c.1884C>G, XM_047430742.1:c.1707C>G, XM_047430745.1:c.1671C>G, XM_047430736.1:c.1884C>G, XM_047430741.1:c.1848C>G, XM_047430744.1:c.1671C>G, XM_047430743.1:c.1671C>G, XM_047430746.1:c.1473C>G

                                  17.

                                  rs1472105169 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:111288430 (GRCh38)
                                    13:111940777 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:111288429:A:G
                                    Gene:
                                    ARHGEF7 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.111288430A>G, NC_000013.10:g.111940777A>G, NM_003899.5:c.1650A>G, NM_003899.4:c.1650A>G, NM_003899.3:c.1650A>G, XM_006719956.4:c.2157A>G, XM_006719956.3:c.2157A>G, XM_006719956.2:c.2157A>G, XM_006719956.1:c.2157A>G, NM_145735.3:c.2121A>G, NM_145735.2:c.2121A>G, NM_001113511.2:c.2184A>G, NM_001113511.1:c.2184A>G, NM_001113512.2:c.2034A>G, NM_001113512.1:c.2034A>G, XM_017020815.2:c.1941A>G, XM_017020815.1:c.1941A>G, NM_001354046.2:c.2121A>G, NM_001354046.1:c.2121A>G, NM_001354060.2:c.1650A>G, NM_001354060.1:c.1650A>G, NM_001354051.2:c.1650A>G, NM_001354051.1:c.1650A>G, NM_001354059.2:c.1650A>G, NM_001354059.1:c.1650A>G, NM_001354058.2:c.1650A>G, NM_001354058.1:c.1650A>G, NM_001330597.2:c.1650A>G, NM_001330597.1:c.1650A>G, NM_001354049.2:c.1650A>G, NM_001354049.1:c.1650A>G, NM_001354057.2:c.1650A>G, NM_001354057.1:c.1650A>G, NM_001354050.2:c.1650A>G, NM_001354050.1:c.1650A>G, NM_001113513.2:c.1650A>G, NM_001113513.1:c.1650A>G, NM_001354054.2:c.1686A>G, NM_001354054.1:c.1686A>G, NM_001354052.2:c.1650A>G, NM_001354052.1:c.1650A>G, NM_001330598.2:c.1650A>G, NM_001330598.1:c.1650A>G, NM_001320853.2:c.1875A>G, NM_001320853.1:c.1875A>G, XM_017020822.2:c.1686A>G, XM_017020822.1:c.1686A>G, NM_001354053.2:c.1650A>G, NM_001354053.1:c.1650A>G, NM_001320851.2:c.1650A>G, NM_001320851.1:c.1650A>G, NM_001354061.2:c.1278A>G, NM_001354061.1:c.1278A>G, NM_001320854.2:c.1416A>G, NM_001320854.1:c.1416A>G, NM_001354055.2:c.1416A>G, NM_001354055.1:c.1416A>G, XM_047430725.1:c.1974A>G, XM_047430730.1:c.1938A>G, XM_047430722.1:c.2157A>G, XM_047430723.1:c.2070A>G, XM_047430739.1:c.1686A>G, XM_047430724.1:c.2034A>G, NM_001320852.1:c.2121A>G, XM_047430726.1:c.1941A>G, XM_047430740.1:c.1686A>G, NM_001354047.1:c.1905A>G, XM_047430728.1:c.1905A>G, XM_047430729.1:c.2034A>G, XM_047430732.1:c.1905A>G, NM_001354048.1:c.1650A>G, NM_001354056.1:c.1650A>G, XM_047430734.1:c.1686A>G, XM_047430738.1:c.1686A>G, XM_047430733.1:c.1686A>G, XM_047430735.1:c.1686A>G, XM_047430727.1:c.1911A>G, XM_047430737.1:c.1686A>G, XM_047430742.1:c.1686A>G, XM_047430745.1:c.1650A>G, XM_047430736.1:c.1686A>G, XM_047430741.1:c.1650A>G, XM_047430744.1:c.1650A>G, XM_047430743.1:c.1650A>G, XM_047430746.1:c.1275A>G

                                    18.

                                    rs1471882560 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      13:111300826 (GRCh38)
                                      13:111953173 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:111300825:G:A,NC_000013.11:111300825:G:T
                                      Gene:
                                      ARHGEF7 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.111300826G>A, NC_000013.11:g.111300826G>T, NC_000013.10:g.111953173G>A, NC_000013.10:g.111953173G>T, NM_003899.5:c.1742G>A, NM_003899.5:c.1742G>T, NM_003899.4:c.1742G>A, NM_003899.4:c.1742G>T, NM_003899.3:c.1742G>A, NM_003899.3:c.1742G>T, XM_006719956.4:c.2249G>A, XM_006719956.4:c.2249G>T, XM_006719956.3:c.2249G>A, XM_006719956.3:c.2249G>T, XM_006719956.2:c.2249G>A, XM_006719956.2:c.2249G>T, XM_006719956.1:c.2249G>A, XM_006719956.1:c.2249G>T, XM_017020815.2:c.2033G>A, XM_017020815.2:c.2033G>T, XM_017020815.1:c.2033G>A, XM_017020815.1:c.2033G>T, NM_001354046.2:c.2390G>A, NM_001354046.2:c.2390G>T, NM_001354046.1:c.2390G>A, NM_001354046.1:c.2390G>T, NM_001354051.2:c.1919G>A, NM_001354051.2:c.1919G>T, NM_001354051.1:c.1919G>A, NM_001354051.1:c.1919G>T, NM_001354049.2:c.1919G>A, NM_001354049.2:c.1919G>T, NM_001354049.1:c.1919G>A, NM_001354049.1:c.1919G>T, NM_001354050.2:c.1919G>A, NM_001354050.2:c.1919G>T, NM_001354050.1:c.1919G>A, NM_001354050.1:c.1919G>T, NM_001113513.2:c.1742G>A, NM_001113513.2:c.1742G>T, NM_001113513.1:c.1742G>A, NM_001113513.1:c.1742G>T, NM_001354054.2:c.1778G>A, NM_001354054.2:c.1778G>T, NM_001354054.1:c.1778G>A, NM_001354054.1:c.1778G>T, NM_001354052.2:c.1742G>A, NM_001354052.2:c.1742G>T, NM_001354052.1:c.1742G>A, NM_001354052.1:c.1742G>T, NM_001320853.2:c.1967G>A, NM_001320853.2:c.1967G>T, NM_001320853.1:c.1967G>A, NM_001320853.1:c.1967G>T, XM_017020822.2:c.1778G>A, XM_017020822.2:c.1778G>T, XM_017020822.1:c.1778G>A, XM_017020822.1:c.1778G>T, NM_001354053.2:c.1742G>A, NM_001354053.2:c.1742G>T, NM_001354053.1:c.1742G>A, NM_001354053.1:c.1742G>T, NM_001320851.2:c.1742G>A, NM_001320851.2:c.1742G>T, NM_001320851.1:c.1742G>A, NM_001320851.1:c.1742G>T, NM_001354055.2:c.1685G>A, NM_001354055.2:c.1685G>T, NM_001354055.1:c.1685G>A, NM_001354055.1:c.1685G>T, XM_047430725.1:c.2243G>A, XM_047430725.1:c.2243G>T, XM_047430730.1:c.2030G>A, XM_047430730.1:c.2030G>T, XM_047430722.1:c.2426G>A, XM_047430722.1:c.2426G>T, XM_047430723.1:c.2339G>A, XM_047430723.1:c.2339G>T, XM_047430739.1:c.1955G>A, XM_047430739.1:c.1955G>T, XM_047430724.1:c.2303G>A, XM_047430724.1:c.2303G>T, NM_001320852.1:c.2213G>A, NM_001320852.1:c.2213G>T, XM_047430726.1:c.2210G>A, XM_047430726.1:c.2210G>T, XM_047430740.1:c.1955G>A, XM_047430740.1:c.1955G>T, XM_047430728.1:c.2174G>A, XM_047430728.1:c.2174G>T, XM_047430729.1:c.2126G>A, XM_047430729.1:c.2126G>T, XM_047430732.1:c.1997G>A, XM_047430732.1:c.1997G>T, NM_001354048.1:c.1919G>A, NM_001354048.1:c.1919G>T, XM_047430734.1:c.1955G>A, XM_047430734.1:c.1955G>T, XM_047430738.1:c.1955G>A, XM_047430738.1:c.1955G>T, XM_047430733.1:c.1955G>A, XM_047430733.1:c.1955G>T, XM_047430735.1:c.1955G>A, XM_047430735.1:c.1955G>T, XM_047430727.1:c.2180G>A, XM_047430727.1:c.2180G>T, XM_047430737.1:c.1955G>A, XM_047430737.1:c.1955G>T, XM_047430742.1:c.1778G>A, XM_047430742.1:c.1778G>T, XM_047430745.1:c.1742G>A, XM_047430745.1:c.1742G>T, XM_047430736.1:c.1955G>A, XM_047430736.1:c.1955G>T, XM_047430741.1:c.1919G>A, XM_047430741.1:c.1919G>T, XM_047430744.1:c.1742G>A, XM_047430744.1:c.1742G>T, XM_047430743.1:c.1742G>A, XM_047430743.1:c.1742G>T, XM_047430746.1:c.1544G>A, XM_047430746.1:c.1544G>T, NP_003890.1:p.Gly581Asp, NP_003890.1:p.Gly581Val, XP_006720019.1:p.Gly750Asp, XP_006720019.1:p.Gly750Val, XP_016876304.1:p.Gly678Asp, XP_016876304.1:p.Gly678Val, NP_001340975.1:p.Gly797Asp, NP_001340975.1:p.Gly797Val, NP_001340980.1:p.Gly640Asp, NP_001340980.1:p.Gly640Val, NP_001340978.1:p.Gly640Asp, NP_001340978.1:p.Gly640Val, NP_001340979.1:p.Gly640Asp, NP_001340979.1:p.Gly640Val, NP_001106985.1:p.Gly581Asp, NP_001106985.1:p.Gly581Val, NP_001340983.1:p.Gly593Asp, NP_001340983.1:p.Gly593Val, NP_001340981.1:p.Gly581Asp, NP_001340981.1:p.Gly581Val, NP_001307782.1:p.Gly656Asp, NP_001307782.1:p.Gly656Val, XP_016876311.1:p.Gly593Asp, XP_016876311.1:p.Gly593Val, NP_001340982.1:p.Gly581Asp, NP_001340982.1:p.Gly581Val, NP_001307780.1:p.Gly581Asp, NP_001307780.1:p.Gly581Val, NP_001340984.1:p.Gly562Asp, NP_001340984.1:p.Gly562Val, XP_047286681.1:p.Gly748Asp, XP_047286681.1:p.Gly748Val, XP_047286686.1:p.Gly677Asp, XP_047286686.1:p.Gly677Val, XP_047286678.1:p.Gly809Asp, XP_047286678.1:p.Gly809Val, XP_047286679.1:p.Gly780Asp, XP_047286679.1:p.Gly780Val, XP_047286695.1:p.Gly652Asp, XP_047286695.1:p.Gly652Val, XP_047286680.1:p.Gly768Asp, XP_047286680.1:p.Gly768Val, NP_001307781.1:p.Gly738Asp, NP_001307781.1:p.Gly738Val, XP_047286682.1:p.Gly737Asp, XP_047286682.1:p.Gly737Val, XP_047286696.1:p.Gly652Asp, XP_047286696.1:p.Gly652Val, XP_047286684.1:p.Gly725Asp, XP_047286684.1:p.Gly725Val, XP_047286685.1:p.Gly709Asp, XP_047286685.1:p.Gly709Val, XP_047286688.1:p.Gly666Asp, XP_047286688.1:p.Gly666Val, NP_001340977.1:p.Gly640Asp, NP_001340977.1:p.Gly640Val, XP_047286690.1:p.Gly652Asp, XP_047286690.1:p.Gly652Val, XP_047286694.1:p.Gly652Asp, XP_047286694.1:p.Gly652Val, XP_047286689.1:p.Gly652Asp, XP_047286689.1:p.Gly652Val, XP_047286691.1:p.Gly652Asp, XP_047286691.1:p.Gly652Val, XP_047286683.1:p.Gly727Asp, XP_047286683.1:p.Gly727Val, XP_047286693.1:p.Gly652Asp, XP_047286693.1:p.Gly652Val, XP_047286698.1:p.Gly593Asp, XP_047286698.1:p.Gly593Val, XP_047286701.1:p.Gly581Asp, XP_047286701.1:p.Gly581Val, XP_047286692.1:p.Gly652Asp, XP_047286692.1:p.Gly652Val, XP_047286697.1:p.Gly640Asp, XP_047286697.1:p.Gly640Val, XP_047286700.1:p.Gly581Asp, XP_047286700.1:p.Gly581Val, XP_047286699.1:p.Gly581Asp, XP_047286699.1:p.Gly581Val, XP_047286702.1:p.Gly515Asp, XP_047286702.1:p.Gly515Val

                                      19.

                                      rs1466508125 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:111153937 (GRCh38)
                                        13:111806284 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:111153936:C:T
                                        Gene:
                                        ARHGEF7 (Varview), LOC101060553 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                        HGVS:
                                        NC_000013.11:g.111153937C>T, NC_000013.10:g.111806284C>T, NM_003899.5:c.-274C>T, NM_003899.4:c.-274C>T, NM_003899.3:c.-274C>T, XM_006719956.4:c.198C>T, XM_006719956.3:c.198C>T, XM_006719956.2:c.198C>T, XM_006719956.1:c.198C>T, NM_145735.3:c.198C>T, NM_145735.2:c.198C>T, XM_011521133.3:c.198C>T, XM_011521133.2:c.198C>T, XM_011521133.1:c.198C>T, NM_001113511.2:c.198C>T, NM_001113511.1:c.198C>T, XM_017020815.2:c.198C>T, XM_017020815.1:c.198C>T, NM_001354046.2:c.198C>T, NM_001354046.1:c.198C>T, NM_001354060.2:c.-274C>T, NM_001354060.1:c.-274C>T, NM_001354051.2:c.-274C>T, NM_001354051.1:c.-274C>T, NM_001354059.2:c.-337C>T, NM_001354059.1:c.-337C>T, NM_001354058.2:c.-286C>T, NM_001354058.1:c.-286C>T, NM_001330597.2:c.-274C>T, NM_001330597.1:c.-274C>T, NM_001354049.2:c.-274C>T, NM_001354049.1:c.-274C>T, NM_001354057.2:c.-252C>T, NM_001354057.1:c.-252C>T, NM_001354050.2:c.-189C>T, NM_001354050.1:c.-189C>T, NM_001354054.2:c.-274C>T, NM_001354054.1:c.-274C>T, NM_001354052.2:c.-274C>T, NM_001354052.1:c.-274C>T, NM_001330598.2:c.-58C>T, NM_001330598.1:c.-58C>T, XM_017020822.2:c.-58C>T, XM_017020822.1:c.-58C>T, NM_001354053.2:c.-58C>T, NM_001354053.1:c.-58C>T, NM_001320851.2:c.-58C>T, NM_001320851.1:c.-58C>T, XM_047430722.1:c.198C>T, NM_001320852.1:c.198C>T, XM_047430726.1:c.198C>T, NM_001354047.1:c.198C>T, XM_047430728.1:c.198C>T, XM_047430732.1:c.198C>T, NM_001354048.1:c.-274C>T, NM_001354056.1:c.-58C>T, XM_047430738.1:c.-274C>T, XM_047430733.1:c.-274C>T, XM_047430735.1:c.-189C>T, XM_047430742.1:c.-274C>T, XM_047430745.1:c.-274C>T, XM_047430736.1:c.-58C>T, XM_047430741.1:c.-58C>T, XM_047430744.1:c.-189C>T, XR_007063704.1:n.1106C>T, XM_047430747.1:c.-274C>T, XM_047430748.1:c.-274C>T, XM_047430750.1:c.-189C>T, XM_047430751.1:c.-58C>T

                                        20.

                                        rs1465729425 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:111300748 (GRCh38)
                                          13:111953095 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:111300747:G:A
                                          Gene:
                                          ARHGEF7 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000013.11:g.111300748G>A, NC_000013.10:g.111953095G>A, NM_003899.5:c.1664G>A, NM_003899.4:c.1664G>A, NM_003899.3:c.1664G>A, XM_006719956.4:c.2171G>A, XM_006719956.3:c.2171G>A, XM_006719956.2:c.2171G>A, XM_006719956.1:c.2171G>A, XM_017020815.2:c.1955G>A, XM_017020815.1:c.1955G>A, NM_001354046.2:c.2312G>A, NM_001354046.1:c.2312G>A, NM_001354051.2:c.1841G>A, NM_001354051.1:c.1841G>A, NM_001354049.2:c.1841G>A, NM_001354049.1:c.1841G>A, NM_001354050.2:c.1841G>A, NM_001354050.1:c.1841G>A, NM_001113513.2:c.1664G>A, NM_001113513.1:c.1664G>A, NM_001354054.2:c.1700G>A, NM_001354054.1:c.1700G>A, NM_001354052.2:c.1664G>A, NM_001354052.1:c.1664G>A, NM_001320853.2:c.1889G>A, NM_001320853.1:c.1889G>A, XM_017020822.2:c.1700G>A, XM_017020822.1:c.1700G>A, NM_001354053.2:c.1664G>A, NM_001354053.1:c.1664G>A, NM_001320851.2:c.1664G>A, NM_001320851.1:c.1664G>A, NM_001354055.2:c.1607G>A, NM_001354055.1:c.1607G>A, XM_047430725.1:c.2165G>A, XM_047430730.1:c.1952G>A, XM_047430722.1:c.2348G>A, XM_047430723.1:c.2261G>A, XM_047430739.1:c.1877G>A, XM_047430724.1:c.2225G>A, NM_001320852.1:c.2135G>A, XM_047430726.1:c.2132G>A, XM_047430740.1:c.1877G>A, XM_047430728.1:c.2096G>A, XM_047430729.1:c.2048G>A, XM_047430732.1:c.1919G>A, NM_001354048.1:c.1841G>A, XM_047430734.1:c.1877G>A, XM_047430738.1:c.1877G>A, XM_047430733.1:c.1877G>A, XM_047430735.1:c.1877G>A, XM_047430727.1:c.2102G>A, XM_047430737.1:c.1877G>A, XM_047430742.1:c.1700G>A, XM_047430745.1:c.1664G>A, XM_047430736.1:c.1877G>A, XM_047430741.1:c.1841G>A, XM_047430744.1:c.1664G>A, XM_047430743.1:c.1664G>A, XM_047430746.1:c.1466G>A, NP_003890.1:p.Ser555Asn, XP_006720019.1:p.Ser724Asn, XP_016876304.1:p.Ser652Asn, NP_001340975.1:p.Arg771His, NP_001340980.1:p.Arg614His, NP_001340978.1:p.Arg614His, NP_001340979.1:p.Arg614His, NP_001106985.1:p.Ser555Asn, NP_001340983.1:p.Ser567Asn, NP_001340981.1:p.Ser555Asn, NP_001307782.1:p.Ser630Asn, XP_016876311.1:p.Ser567Asn, NP_001340982.1:p.Ser555Asn, NP_001307780.1:p.Ser555Asn, NP_001340984.1:p.Arg536His, XP_047286681.1:p.Arg722His, XP_047286686.1:p.Ser651Asn, XP_047286678.1:p.Arg783His, XP_047286679.1:p.Arg754His, XP_047286695.1:p.Arg626His, XP_047286680.1:p.Arg742His, NP_001307781.1:p.Ser712Asn, XP_047286682.1:p.Arg711His, XP_047286696.1:p.Arg626His, XP_047286684.1:p.Arg699His, XP_047286685.1:p.Ser683Asn, XP_047286688.1:p.Ser640Asn, NP_001340977.1:p.Arg614His, XP_047286690.1:p.Arg626His, XP_047286694.1:p.Arg626His, XP_047286689.1:p.Arg626His, XP_047286691.1:p.Arg626His, XP_047286683.1:p.Arg701His, XP_047286693.1:p.Arg626His, XP_047286698.1:p.Ser567Asn, XP_047286701.1:p.Ser555Asn, XP_047286692.1:p.Arg626His, XP_047286697.1:p.Arg614His, XP_047286700.1:p.Ser555Asn, XP_047286699.1:p.Ser555Asn, XP_047286702.1:p.Arg489His

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