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Items: 1 to 20 of 1078

1.

rs1490350393 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    X:12721099 (GRCh38)
    X:12739218 (GRCh37)
    Canonical SPDI:
    NC_000023.11:12721098:G:T
    Gene:
    FRMPD4 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000023.11:g.12721099G>T, NC_000023.10:g.12739218G>T, NG_016419.3:g.903639G>T, NM_014728.3:c.*566G>T, NM_001368396.3:c.4536G>T, NM_001368396.2:c.4536G>T, NM_001368396.1:c.4536G>T, NM_001368398.3:c.*566G>T, NM_001368398.2:c.*566G>T, NM_001368398.1:c.*566G>T, NM_001368395.3:c.4641G>T, NM_001368395.2:c.4641G>T, NM_001368395.1:c.4641G>T, NM_001368399.3:c.*566G>T, NM_001368399.2:c.*566G>T, NM_001368399.1:c.*566G>T, NM_001368402.3:c.*566G>T, NM_001368402.2:c.*566G>T, NM_001368402.1:c.*566G>T, NM_001368400.3:c.*566G>T, NM_001368400.2:c.*566G>T, NM_001368400.1:c.*566G>T, NM_001368401.1:c.*566G>T, NM_001368397.1:c.4530G>T, XM_005274632.4:c.4530G>T, XM_005274632.3:c.4602G>T, XM_005274632.2:c.4530G>T, XM_005274632.1:c.4530G>T, XM_017029983.2:c.4521G>T, XM_017029983.1:c.4521G>T, XM_017029985.2:c.*566G>T, XM_017029985.1:c.*566G>T, XM_017029984.2:c.4440G>T, XM_017029984.1:c.4512G>T, XM_047442680.1:c.*566G>T

    2.

    rs1489431084 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:12683571 (GRCh38)
      X:12701690 (GRCh37)
      Canonical SPDI:
      NC_000023.11:12683570:T:C
      Gene:
      FRMPD4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000006/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.12683571T>C, NC_000023.10:g.12701690T>C, NG_016419.3:g.866111T>C, NM_014728.3:c.557T>C, NM_001368396.3:c.563T>C, NM_001368396.2:c.563T>C, NM_001368396.1:c.563T>C, NM_001368398.3:c.668T>C, NM_001368398.2:c.668T>C, NM_001368398.1:c.668T>C, NM_001368395.3:c.668T>C, NM_001368395.2:c.668T>C, NM_001368395.1:c.668T>C, NM_001368399.3:c.548T>C, NM_001368399.2:c.548T>C, NM_001368399.1:c.548T>C, NM_001368402.3:c.533T>C, NM_001368402.2:c.533T>C, NM_001368402.1:c.533T>C, NM_001368400.3:c.437T>C, NM_001368400.2:c.437T>C, NM_001368400.1:c.437T>C, NM_001368401.1:c.533T>C, NM_001368397.1:c.557T>C, XM_005274632.4:c.557T>C, XM_005274632.3:c.629T>C, XM_005274632.2:c.557T>C, XM_005274632.1:c.557T>C, XM_017029983.2:c.548T>C, XM_017029983.1:c.548T>C, XM_017029985.2:c.557T>C, XM_017029985.1:c.629T>C, XM_017029984.2:c.557T>C, XM_017029984.1:c.629T>C, XM_047442680.1:c.548T>C, NP_055543.2:p.Ile186Thr, NP_001355325.1:p.Ile188Thr, NP_001355327.1:p.Ile223Thr, NP_001355324.1:p.Ile223Thr, NP_001355328.1:p.Ile183Thr, NP_001355331.1:p.Ile178Thr, NP_001355329.1:p.Ile146Thr, NP_001355330.1:p.Ile178Thr, NP_001355326.1:p.Ile186Thr, XP_005274689.3:p.Ile186Thr, XP_016885472.1:p.Ile183Thr, XP_016885474.2:p.Ile186Thr, XP_016885473.2:p.Ile186Thr, XP_047298636.1:p.Ile183Thr

      3.

      rs1487795727 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        X:12707559 (GRCh38)
        X:12725678 (GRCh37)
        Canonical SPDI:
        NC_000023.11:12707558:C:G
        Gene:
        FRMPD4 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.00001/1 (GnomAD)
        HGVS:
        NC_000023.11:g.12707559C>G, NC_000023.10:g.12725678C>G, NG_016419.3:g.890099C>G, NM_014728.3:c.1378C>G, NM_001368396.3:c.1384C>G, NM_001368396.2:c.1384C>G, NM_001368396.1:c.1384C>G, NM_001368398.3:c.1489C>G, NM_001368398.2:c.1489C>G, NM_001368398.1:c.1489C>G, NM_001368395.3:c.1489C>G, NM_001368395.2:c.1489C>G, NM_001368395.1:c.1489C>G, NM_001368399.3:c.1369C>G, NM_001368399.2:c.1369C>G, NM_001368399.1:c.1369C>G, NM_001368402.3:c.1354C>G, NM_001368402.2:c.1354C>G, NM_001368402.1:c.1354C>G, NM_001368400.3:c.1258C>G, NM_001368400.2:c.1258C>G, NM_001368400.1:c.1258C>G, NM_001368401.1:c.1354C>G, NM_001368397.1:c.1378C>G, XM_005274632.4:c.1378C>G, XM_005274632.3:c.1450C>G, XM_005274632.2:c.1378C>G, XM_005274632.1:c.1378C>G, XM_017029983.2:c.1369C>G, XM_017029983.1:c.1369C>G, XM_017029985.2:c.1378C>G, XM_017029985.1:c.1450C>G, XM_017029984.2:c.1288C>G, XM_017029984.1:c.1360C>G, XM_047442680.1:c.1279C>G, NP_055543.2:p.Leu460Val, NP_001355325.1:p.Leu462Val, NP_001355327.1:p.Leu497Val, NP_001355324.1:p.Leu497Val, NP_001355328.1:p.Leu457Val, NP_001355331.1:p.Leu452Val, NP_001355329.1:p.Leu420Val, NP_001355330.1:p.Leu452Val, NP_001355326.1:p.Leu460Val, XP_005274689.3:p.Leu460Val, XP_016885472.1:p.Leu457Val, XP_016885474.2:p.Leu460Val, XP_016885473.2:p.Leu430Val, XP_047298636.1:p.Leu427Val

        4.

        rs1487559164 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:12498758 (GRCh38)
          X:12516877 (GRCh37)
          Canonical SPDI:
          NC_000023.11:12498757:G:A
          Gene:
          FRMPD4 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.00001/1 (GnomAD)
          HGVS:
          NC_000023.11:g.12498758G>A, NC_000023.10:g.12516877G>A, NG_016419.3:g.681298G>A, NM_014728.3:c.120G>A, NM_001368396.3:c.120G>A, NM_001368396.2:c.120G>A, NM_001368396.1:c.120G>A, NM_001368398.3:c.231G>A, NM_001368398.2:c.231G>A, NM_001368398.1:c.231G>A, NM_001368395.3:c.231G>A, NM_001368395.2:c.231G>A, NM_001368395.1:c.231G>A, NM_001368399.3:c.111G>A, NM_001368399.2:c.111G>A, NM_001368399.1:c.111G>A, NM_001368402.3:c.96G>A, NM_001368402.2:c.96G>A, NM_001368402.1:c.96G>A, NM_001368400.3:c.-1G>A, NM_001368400.2:c.-1G>A, NM_001368400.1:c.-1G>A, NM_001368401.1:c.96G>A, NM_001368397.1:c.120G>A, XM_005274632.4:c.120G>A, XM_005274632.3:c.192G>A, XM_005274632.2:c.120G>A, XM_005274632.1:c.120G>A, XM_017029983.2:c.111G>A, XM_017029983.1:c.111G>A, XM_017029985.2:c.120G>A, XM_017029985.1:c.192G>A, XM_017029984.2:c.120G>A, XM_017029984.1:c.192G>A, XM_047442680.1:c.111G>A

          5.

          rs1487190254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            X:12694392 (GRCh38)
            X:12712511 (GRCh37)
            Canonical SPDI:
            NC_000023.11:12694391:C:A
            Gene:
            FRMPD4 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.12694392C>A, NC_000023.10:g.12712511C>A, NG_016419.3:g.876932C>A, NM_014728.3:c.871C>A, NM_001368396.3:c.877C>A, NM_001368396.2:c.877C>A, NM_001368396.1:c.877C>A, NM_001368398.3:c.982C>A, NM_001368398.2:c.982C>A, NM_001368398.1:c.982C>A, NM_001368395.3:c.982C>A, NM_001368395.2:c.982C>A, NM_001368395.1:c.982C>A, NM_001368399.3:c.862C>A, NM_001368399.2:c.862C>A, NM_001368399.1:c.862C>A, NM_001368402.3:c.847C>A, NM_001368402.2:c.847C>A, NM_001368402.1:c.847C>A, NM_001368400.3:c.751C>A, NM_001368400.2:c.751C>A, NM_001368400.1:c.751C>A, NM_001368401.1:c.847C>A, NM_001368397.1:c.871C>A, XM_005274632.4:c.871C>A, XM_005274632.3:c.943C>A, XM_005274632.2:c.871C>A, XM_005274632.1:c.871C>A, XM_017029983.2:c.862C>A, XM_017029983.1:c.862C>A, XM_017029985.2:c.871C>A, XM_017029985.1:c.943C>A, XM_017029984.2:c.871C>A, XM_017029984.1:c.943C>A, XM_047442680.1:c.862C>A, NP_055543.2:p.Pro291Thr, NP_001355325.1:p.Pro293Thr, NP_001355327.1:p.Pro328Thr, NP_001355324.1:p.Pro328Thr, NP_001355328.1:p.Pro288Thr, NP_001355331.1:p.Pro283Thr, NP_001355329.1:p.Pro251Thr, NP_001355330.1:p.Pro283Thr, NP_001355326.1:p.Pro291Thr, XP_005274689.3:p.Pro291Thr, XP_016885472.1:p.Pro288Thr, XP_016885474.2:p.Pro291Thr, XP_016885473.2:p.Pro291Thr, XP_047298636.1:p.Pro288Thr

            6.

            rs1485246893 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:12609766 (GRCh38)
              X:12627885 (GRCh37)
              Canonical SPDI:
              NC_000023.11:12609765:C:T
              Gene:
              FRMPD4 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000011/2 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.12609766C>T, NC_000023.10:g.12627885C>T, NG_016419.3:g.792306C>T, NM_014728.3:c.204C>T, NM_001368396.3:c.204C>T, NM_001368396.2:c.204C>T, NM_001368396.1:c.204C>T, NM_001368398.3:c.315C>T, NM_001368398.2:c.315C>T, NM_001368398.1:c.315C>T, NM_001368395.3:c.315C>T, NM_001368395.2:c.315C>T, NM_001368395.1:c.315C>T, NM_001368399.3:c.195C>T, NM_001368399.2:c.195C>T, NM_001368399.1:c.195C>T, NM_001368402.3:c.180C>T, NM_001368402.2:c.180C>T, NM_001368402.1:c.180C>T, NM_001368400.3:c.84C>T, NM_001368400.2:c.84C>T, NM_001368400.1:c.84C>T, NM_001368401.1:c.180C>T, NM_001368397.1:c.204C>T, XM_005274632.4:c.204C>T, XM_005274632.3:c.276C>T, XM_005274632.2:c.204C>T, XM_005274632.1:c.204C>T, XM_017029983.2:c.195C>T, XM_017029983.1:c.195C>T, XM_017029985.2:c.204C>T, XM_017029985.1:c.276C>T, XM_017029984.2:c.204C>T, XM_017029984.1:c.276C>T, XM_047442680.1:c.195C>T

              7.

              rs1484784360 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:12707624 (GRCh38)
                X:12725743 (GRCh37)
                Canonical SPDI:
                NC_000023.11:12707623:G:A
                Gene:
                FRMPD4 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                HGVS:
                NC_000023.11:g.12707624G>A, NC_000023.10:g.12725743G>A, NG_016419.3:g.890164G>A, NM_014728.3:c.1443G>A, NM_001368396.3:c.1449G>A, NM_001368396.2:c.1449G>A, NM_001368396.1:c.1449G>A, NM_001368398.3:c.1554G>A, NM_001368398.2:c.1554G>A, NM_001368398.1:c.1554G>A, NM_001368395.3:c.1554G>A, NM_001368395.2:c.1554G>A, NM_001368395.1:c.1554G>A, NM_001368399.3:c.1434G>A, NM_001368399.2:c.1434G>A, NM_001368399.1:c.1434G>A, NM_001368402.3:c.1419G>A, NM_001368402.2:c.1419G>A, NM_001368402.1:c.1419G>A, NM_001368400.3:c.1323G>A, NM_001368400.2:c.1323G>A, NM_001368400.1:c.1323G>A, NM_001368401.1:c.1419G>A, NM_001368397.1:c.1443G>A, XM_005274632.4:c.1443G>A, XM_005274632.3:c.1515G>A, XM_005274632.2:c.1443G>A, XM_005274632.1:c.1443G>A, XM_017029983.2:c.1434G>A, XM_017029983.1:c.1434G>A, XM_017029985.2:c.1443G>A, XM_017029985.1:c.1515G>A, XM_017029984.2:c.1353G>A, XM_017029984.1:c.1425G>A, XM_047442680.1:c.1344G>A

                8.

                rs1484526377 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:12718613 (GRCh38)
                  X:12736732 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:12718612:G:A
                  Gene:
                  FRMPD4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000023.11:g.12718613G>A, NC_000023.10:g.12736732G>A, NG_016419.3:g.901153G>A, NM_014728.3:c.3787G>A, NM_001368396.3:c.3793G>A, NM_001368396.2:c.3793G>A, NM_001368396.1:c.3793G>A, NM_001368398.3:c.3898G>A, NM_001368398.2:c.3898G>A, NM_001368398.1:c.3898G>A, NM_001368395.3:c.3898G>A, NM_001368395.2:c.3898G>A, NM_001368395.1:c.3898G>A, NM_001368399.3:c.3778G>A, NM_001368399.2:c.3778G>A, NM_001368399.1:c.3778G>A, NM_001368402.3:c.3763G>A, NM_001368402.2:c.3763G>A, NM_001368402.1:c.3763G>A, NM_001368400.3:c.3667G>A, NM_001368400.2:c.3667G>A, NM_001368400.1:c.3667G>A, NM_001368401.1:c.3763G>A, NM_001368397.1:c.3787G>A, XM_005274632.4:c.3787G>A, XM_005274632.3:c.3859G>A, XM_005274632.2:c.3787G>A, XM_005274632.1:c.3787G>A, XM_017029983.2:c.3778G>A, XM_017029983.1:c.3778G>A, XM_017029985.2:c.3787G>A, XM_017029985.1:c.3859G>A, XM_017029984.2:c.3697G>A, XM_017029984.1:c.3769G>A, XM_047442680.1:c.3688G>A, NP_055543.2:p.Glu1263Lys, NP_001355325.1:p.Glu1265Lys, NP_001355327.1:p.Glu1300Lys, NP_001355324.1:p.Glu1300Lys, NP_001355328.1:p.Glu1260Lys, NP_001355331.1:p.Glu1255Lys, NP_001355329.1:p.Glu1223Lys, NP_001355330.1:p.Glu1255Lys, NP_001355326.1:p.Glu1263Lys, XP_005274689.3:p.Glu1263Lys, XP_016885472.1:p.Glu1260Lys, XP_016885474.2:p.Glu1263Lys, XP_016885473.2:p.Glu1233Lys, XP_047298636.1:p.Glu1230Lys

                  9.

                  rs1484218020 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:12718197 (GRCh38)
                    X:12736316 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:12718196:G:A
                    Gene:
                    FRMPD4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.12718197G>A, NC_000023.10:g.12736316G>A, NG_016419.3:g.900737G>A, NM_014728.3:c.3371G>A, NM_001368396.3:c.3377G>A, NM_001368396.2:c.3377G>A, NM_001368396.1:c.3377G>A, NM_001368398.3:c.3482G>A, NM_001368398.2:c.3482G>A, NM_001368398.1:c.3482G>A, NM_001368395.3:c.3482G>A, NM_001368395.2:c.3482G>A, NM_001368395.1:c.3482G>A, NM_001368399.3:c.3362G>A, NM_001368399.2:c.3362G>A, NM_001368399.1:c.3362G>A, NM_001368402.3:c.3347G>A, NM_001368402.2:c.3347G>A, NM_001368402.1:c.3347G>A, NM_001368400.3:c.3251G>A, NM_001368400.2:c.3251G>A, NM_001368400.1:c.3251G>A, NM_001368401.1:c.3347G>A, NM_001368397.1:c.3371G>A, XM_005274632.4:c.3371G>A, XM_005274632.3:c.3443G>A, XM_005274632.2:c.3371G>A, XM_005274632.1:c.3371G>A, XM_017029983.2:c.3362G>A, XM_017029983.1:c.3362G>A, XM_017029985.2:c.3371G>A, XM_017029985.1:c.3443G>A, XM_017029984.2:c.3281G>A, XM_017029984.1:c.3353G>A, XM_047442680.1:c.3272G>A, NP_055543.2:p.Arg1124Lys, NP_001355325.1:p.Arg1126Lys, NP_001355327.1:p.Arg1161Lys, NP_001355324.1:p.Arg1161Lys, NP_001355328.1:p.Arg1121Lys, NP_001355331.1:p.Arg1116Lys, NP_001355329.1:p.Arg1084Lys, NP_001355330.1:p.Arg1116Lys, NP_001355326.1:p.Arg1124Lys, XP_005274689.3:p.Arg1124Lys, XP_016885472.1:p.Arg1121Lys, XP_016885474.2:p.Arg1124Lys, XP_016885473.2:p.Arg1094Lys, XP_047298636.1:p.Arg1091Lys

                    10.

                    rs1483959931 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:12720935 (GRCh38)
                      X:12739054 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:12720934:T:C
                      Gene:
                      FRMPD4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000198/3 (ALFA)
                      C=0.00001/1 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      NC_000023.11:g.12720935T>C, NC_000023.10:g.12739054T>C, NG_016419.3:g.903475T>C, NM_014728.3:c.*402T>C, NM_001368396.3:c.4372T>C, NM_001368396.2:c.4372T>C, NM_001368396.1:c.4372T>C, NM_001368398.3:c.*402T>C, NM_001368398.2:c.*402T>C, NM_001368398.1:c.*402T>C, NM_001368395.3:c.4477T>C, NM_001368395.2:c.4477T>C, NM_001368395.1:c.4477T>C, NM_001368399.3:c.*402T>C, NM_001368399.2:c.*402T>C, NM_001368399.1:c.*402T>C, NM_001368402.3:c.*402T>C, NM_001368402.2:c.*402T>C, NM_001368402.1:c.*402T>C, NM_001368400.3:c.*402T>C, NM_001368400.2:c.*402T>C, NM_001368400.1:c.*402T>C, NM_001368401.1:c.*402T>C, NM_001368397.1:c.4366T>C, XM_005274632.4:c.4366T>C, XM_005274632.3:c.4438T>C, XM_005274632.2:c.4366T>C, XM_005274632.1:c.4366T>C, XM_017029983.2:c.4357T>C, XM_017029983.1:c.4357T>C, XM_017029985.2:c.*402T>C, XM_017029985.1:c.*402T>C, XM_017029984.2:c.4276T>C, XM_017029984.1:c.4348T>C, XM_047442680.1:c.*402T>C, NP_001355325.1:p.Phe1458Leu, NP_001355324.1:p.Phe1493Leu, NP_001355326.1:p.Phe1456Leu, XP_005274689.3:p.Phe1456Leu, XP_016885472.1:p.Phe1453Leu, XP_016885473.2:p.Phe1426Leu

                      11.

                      rs1483474215 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        X:12498700 (GRCh38)
                        X:12516819 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:12498699:G:A,NC_000023.11:12498699:G:C
                        Gene:
                        FRMPD4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000023.11:g.12498700G>A, NC_000023.11:g.12498700G>C, NC_000023.10:g.12516819G>A, NC_000023.10:g.12516819G>C, NG_016419.3:g.681240G>A, NG_016419.3:g.681240G>C, NM_014728.3:c.62G>A, NM_014728.3:c.62G>C, NM_001368396.3:c.62G>A, NM_001368396.3:c.62G>C, NM_001368396.2:c.62G>A, NM_001368396.2:c.62G>C, NM_001368396.1:c.62G>A, NM_001368396.1:c.62G>C, NM_001368398.3:c.173G>A, NM_001368398.3:c.173G>C, NM_001368398.2:c.173G>A, NM_001368398.2:c.173G>C, NM_001368398.1:c.173G>A, NM_001368398.1:c.173G>C, NM_001368395.3:c.173G>A, NM_001368395.3:c.173G>C, NM_001368395.2:c.173G>A, NM_001368395.2:c.173G>C, NM_001368395.1:c.173G>A, NM_001368395.1:c.173G>C, NM_001368399.3:c.53G>A, NM_001368399.3:c.53G>C, NM_001368399.2:c.53G>A, NM_001368399.2:c.53G>C, NM_001368399.1:c.53G>A, NM_001368399.1:c.53G>C, NM_001368402.3:c.38G>A, NM_001368402.3:c.38G>C, NM_001368402.2:c.38G>A, NM_001368402.2:c.38G>C, NM_001368402.1:c.38G>A, NM_001368402.1:c.38G>C, NM_001368400.3:c.-59G>A, NM_001368400.3:c.-59G>C, NM_001368400.2:c.-59G>A, NM_001368400.2:c.-59G>C, NM_001368400.1:c.-59G>A, NM_001368400.1:c.-59G>C, NM_001368401.1:c.38G>A, NM_001368401.1:c.38G>C, NM_001368397.1:c.62G>A, NM_001368397.1:c.62G>C, XM_005274632.4:c.62G>A, XM_005274632.4:c.62G>C, XM_005274632.3:c.134G>A, XM_005274632.3:c.134G>C, XM_005274632.2:c.62G>A, XM_005274632.2:c.62G>C, XM_005274632.1:c.62G>A, XM_005274632.1:c.62G>C, XM_017029983.2:c.53G>A, XM_017029983.2:c.53G>C, XM_017029983.1:c.53G>A, XM_017029983.1:c.53G>C, XM_017029985.2:c.62G>A, XM_017029985.2:c.62G>C, XM_017029985.1:c.134G>A, XM_017029985.1:c.134G>C, XM_017029984.2:c.62G>A, XM_017029984.2:c.62G>C, XM_017029984.1:c.134G>A, XM_017029984.1:c.134G>C, XM_047442680.1:c.53G>A, XM_047442680.1:c.53G>C, NP_055543.2:p.Gly21Asp, NP_055543.2:p.Gly21Ala, NP_001355325.1:p.Gly21Asp, NP_001355325.1:p.Gly21Ala, NP_001355327.1:p.Gly58Asp, NP_001355327.1:p.Gly58Ala, NP_001355324.1:p.Gly58Asp, NP_001355324.1:p.Gly58Ala, NP_001355328.1:p.Gly18Asp, NP_001355328.1:p.Gly18Ala, NP_001355331.1:p.Gly13Asp, NP_001355331.1:p.Gly13Ala, NP_001355330.1:p.Gly13Asp, NP_001355330.1:p.Gly13Ala, NP_001355326.1:p.Gly21Asp, NP_001355326.1:p.Gly21Ala, XP_005274689.3:p.Gly21Asp, XP_005274689.3:p.Gly21Ala, XP_016885472.1:p.Gly18Asp, XP_016885472.1:p.Gly18Ala, XP_016885474.2:p.Gly21Asp, XP_016885474.2:p.Gly21Ala, XP_016885473.2:p.Gly21Asp, XP_016885473.2:p.Gly21Ala, XP_047298636.1:p.Gly18Asp, XP_047298636.1:p.Gly18Ala

                        12.

                        rs1483347404 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          X:12718633 (GRCh38)
                          X:12736752 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:12718632:C:G
                          Gene:
                          FRMPD4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000005/1 (GnomAD_exomes)
                          G=0.00001/1 (GnomAD)
                          HGVS:
                          NC_000023.11:g.12718633C>G, NC_000023.10:g.12736752C>G, NG_016419.3:g.901173C>G, NM_014728.3:c.3807C>G, NM_001368396.3:c.3813C>G, NM_001368396.2:c.3813C>G, NM_001368396.1:c.3813C>G, NM_001368398.3:c.3918C>G, NM_001368398.2:c.3918C>G, NM_001368398.1:c.3918C>G, NM_001368395.3:c.3918C>G, NM_001368395.2:c.3918C>G, NM_001368395.1:c.3918C>G, NM_001368399.3:c.3798C>G, NM_001368399.2:c.3798C>G, NM_001368399.1:c.3798C>G, NM_001368402.3:c.3783C>G, NM_001368402.2:c.3783C>G, NM_001368402.1:c.3783C>G, NM_001368400.3:c.3687C>G, NM_001368400.2:c.3687C>G, NM_001368400.1:c.3687C>G, NM_001368401.1:c.3783C>G, NM_001368397.1:c.3807C>G, XM_005274632.4:c.3807C>G, XM_005274632.3:c.3879C>G, XM_005274632.2:c.3807C>G, XM_005274632.1:c.3807C>G, XM_017029983.2:c.3798C>G, XM_017029983.1:c.3798C>G, XM_017029985.2:c.3807C>G, XM_017029985.1:c.3879C>G, XM_017029984.2:c.3717C>G, XM_017029984.1:c.3789C>G, XM_047442680.1:c.3708C>G

                          13.

                          rs1483250337 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:12716884 (GRCh38)
                            X:12735003 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:12716883:G:A
                            Gene:
                            FRMPD4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000111/1 (ALFA)
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.12716884G>A, NC_000023.10:g.12735003G>A, NG_016419.3:g.899424G>A, NM_014728.3:c.2425G>A, NM_001368396.3:c.2431G>A, NM_001368396.2:c.2431G>A, NM_001368396.1:c.2431G>A, NM_001368398.3:c.2536G>A, NM_001368398.2:c.2536G>A, NM_001368398.1:c.2536G>A, NM_001368395.3:c.2536G>A, NM_001368395.2:c.2536G>A, NM_001368395.1:c.2536G>A, NM_001368399.3:c.2416G>A, NM_001368399.2:c.2416G>A, NM_001368399.1:c.2416G>A, NM_001368402.3:c.2401G>A, NM_001368402.2:c.2401G>A, NM_001368402.1:c.2401G>A, NM_001368400.3:c.2305G>A, NM_001368400.2:c.2305G>A, NM_001368400.1:c.2305G>A, NM_001368401.1:c.2401G>A, NM_001368397.1:c.2425G>A, XM_005274632.4:c.2425G>A, XM_005274632.3:c.2497G>A, XM_005274632.2:c.2425G>A, XM_005274632.1:c.2425G>A, XM_017029983.2:c.2416G>A, XM_017029983.1:c.2416G>A, XM_017029985.2:c.2425G>A, XM_017029985.1:c.2497G>A, XM_017029984.2:c.2335G>A, XM_017029984.1:c.2407G>A, XM_047442680.1:c.2326G>A, NP_055543.2:p.Ala809Thr, NP_001355325.1:p.Ala811Thr, NP_001355327.1:p.Ala846Thr, NP_001355324.1:p.Ala846Thr, NP_001355328.1:p.Ala806Thr, NP_001355331.1:p.Ala801Thr, NP_001355329.1:p.Ala769Thr, NP_001355330.1:p.Ala801Thr, NP_001355326.1:p.Ala809Thr, XP_005274689.3:p.Ala809Thr, XP_016885472.1:p.Ala806Thr, XP_016885474.2:p.Ala809Thr, XP_016885473.2:p.Ala779Thr, XP_047298636.1:p.Ala776Thr

                            14.

                            rs1482808587 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              X:12686170 (GRCh38)
                              X:12704289 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:12686169:A:T
                              Gene:
                              FRMPD4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000023.11:g.12686170A>T, NC_000023.10:g.12704289A>T, NG_016419.3:g.868710A>T, NM_014728.3:c.647A>T, NM_001368396.3:c.653A>T, NM_001368396.2:c.653A>T, NM_001368396.1:c.653A>T, NM_001368398.3:c.758A>T, NM_001368398.2:c.758A>T, NM_001368398.1:c.758A>T, NM_001368395.3:c.758A>T, NM_001368395.2:c.758A>T, NM_001368395.1:c.758A>T, NM_001368399.3:c.638A>T, NM_001368399.2:c.638A>T, NM_001368399.1:c.638A>T, NM_001368402.3:c.623A>T, NM_001368402.2:c.623A>T, NM_001368402.1:c.623A>T, NM_001368400.3:c.527A>T, NM_001368400.2:c.527A>T, NM_001368400.1:c.527A>T, NM_001368401.1:c.623A>T, NM_001368397.1:c.647A>T, XM_005274632.4:c.647A>T, XM_005274632.3:c.719A>T, XM_005274632.2:c.647A>T, XM_005274632.1:c.647A>T, XM_017029983.2:c.638A>T, XM_017029983.1:c.638A>T, XM_017029985.2:c.647A>T, XM_017029985.1:c.719A>T, XM_017029984.2:c.647A>T, XM_017029984.1:c.719A>T, XM_047442680.1:c.638A>T, NP_055543.2:p.Lys216Ile, NP_001355325.1:p.Lys218Ile, NP_001355327.1:p.Lys253Ile, NP_001355324.1:p.Lys253Ile, NP_001355328.1:p.Lys213Ile, NP_001355331.1:p.Lys208Ile, NP_001355329.1:p.Lys176Ile, NP_001355330.1:p.Lys208Ile, NP_001355326.1:p.Lys216Ile, XP_005274689.3:p.Lys216Ile, XP_016885472.1:p.Lys213Ile, XP_016885474.2:p.Lys216Ile, XP_016885473.2:p.Lys216Ile, XP_047298636.1:p.Lys213Ile

                              15.

                              rs1481530027 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                X:12718307 (GRCh38)
                                X:12736426 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:12718306:A:G
                                Gene:
                                FRMPD4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000023.11:g.12718307A>G, NC_000023.10:g.12736426A>G, NG_016419.3:g.900847A>G, NM_014728.3:c.3481A>G, NM_001368396.3:c.3487A>G, NM_001368396.2:c.3487A>G, NM_001368396.1:c.3487A>G, NM_001368398.3:c.3592A>G, NM_001368398.2:c.3592A>G, NM_001368398.1:c.3592A>G, NM_001368395.3:c.3592A>G, NM_001368395.2:c.3592A>G, NM_001368395.1:c.3592A>G, NM_001368399.3:c.3472A>G, NM_001368399.2:c.3472A>G, NM_001368399.1:c.3472A>G, NM_001368402.3:c.3457A>G, NM_001368402.2:c.3457A>G, NM_001368402.1:c.3457A>G, NM_001368400.3:c.3361A>G, NM_001368400.2:c.3361A>G, NM_001368400.1:c.3361A>G, NM_001368401.1:c.3457A>G, NM_001368397.1:c.3481A>G, XM_005274632.4:c.3481A>G, XM_005274632.3:c.3553A>G, XM_005274632.2:c.3481A>G, XM_005274632.1:c.3481A>G, XM_017029983.2:c.3472A>G, XM_017029983.1:c.3472A>G, XM_017029985.2:c.3481A>G, XM_017029985.1:c.3553A>G, XM_017029984.2:c.3391A>G, XM_017029984.1:c.3463A>G, XM_047442680.1:c.3382A>G, NP_055543.2:p.Lys1161Glu, NP_001355325.1:p.Lys1163Glu, NP_001355327.1:p.Lys1198Glu, NP_001355324.1:p.Lys1198Glu, NP_001355328.1:p.Lys1158Glu, NP_001355331.1:p.Lys1153Glu, NP_001355329.1:p.Lys1121Glu, NP_001355330.1:p.Lys1153Glu, NP_001355326.1:p.Lys1161Glu, XP_005274689.3:p.Lys1161Glu, XP_016885472.1:p.Lys1158Glu, XP_016885474.2:p.Lys1161Glu, XP_016885473.2:p.Lys1131Glu, XP_047298636.1:p.Lys1128Glu

                                16.

                                rs1479957513 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:12721406 (GRCh38)
                                  X:12739525 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:12721405:G:A
                                  Gene:
                                  FRMPD4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.12721406G>A, NC_000023.10:g.12739525G>A, NG_016419.3:g.903946G>A, NM_014728.3:c.*873G>A, NM_001368396.3:c.4843G>A, NM_001368396.2:c.4843G>A, NM_001368396.1:c.4843G>A, NM_001368398.3:c.*873G>A, NM_001368398.2:c.*873G>A, NM_001368398.1:c.*873G>A, NM_001368395.3:c.4948G>A, NM_001368395.2:c.4948G>A, NM_001368395.1:c.4948G>A, NM_001368399.3:c.*873G>A, NM_001368399.2:c.*873G>A, NM_001368399.1:c.*873G>A, NM_001368402.3:c.*873G>A, NM_001368402.2:c.*873G>A, NM_001368402.1:c.*873G>A, NM_001368400.3:c.*873G>A, NM_001368400.2:c.*873G>A, NM_001368400.1:c.*873G>A, NM_001368401.1:c.*873G>A, NM_001368397.1:c.4837G>A, XM_005274632.4:c.4837G>A, XM_005274632.3:c.4909G>A, XM_005274632.2:c.4837G>A, XM_005274632.1:c.4837G>A, XM_017029983.2:c.4828G>A, XM_017029983.1:c.4828G>A, XM_017029985.2:c.*873G>A, XM_017029985.1:c.*873G>A, XM_017029984.2:c.4747G>A, XM_017029984.1:c.4819G>A, XM_047442680.1:c.*873G>A, NP_001355325.1:p.Ala1615Thr, NP_001355324.1:p.Ala1650Thr, NP_001355326.1:p.Ala1613Thr, XP_005274689.3:p.Ala1613Thr, XP_016885472.1:p.Ala1610Thr, XP_016885473.2:p.Ala1583Thr

                                  17.

                                  rs1479764993 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    X:12717659 (GRCh38)
                                    X:12735778 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:12717658:C:A
                                    Gene:
                                    FRMPD4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000011/2 (GnomAD_exomes)
                                    A=0.000019/2 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.12717659C>A, NC_000023.10:g.12735778C>A, NG_016419.3:g.900199C>A, NM_014728.3:c.2833C>A, NM_001368396.3:c.2839C>A, NM_001368396.2:c.2839C>A, NM_001368396.1:c.2839C>A, NM_001368398.3:c.2944C>A, NM_001368398.2:c.2944C>A, NM_001368398.1:c.2944C>A, NM_001368395.3:c.2944C>A, NM_001368395.2:c.2944C>A, NM_001368395.1:c.2944C>A, NM_001368399.3:c.2824C>A, NM_001368399.2:c.2824C>A, NM_001368399.1:c.2824C>A, NM_001368402.3:c.2809C>A, NM_001368402.2:c.2809C>A, NM_001368402.1:c.2809C>A, NM_001368400.3:c.2713C>A, NM_001368400.2:c.2713C>A, NM_001368400.1:c.2713C>A, NM_001368401.1:c.2809C>A, NM_001368397.1:c.2833C>A, XM_005274632.4:c.2833C>A, XM_005274632.3:c.2905C>A, XM_005274632.2:c.2833C>A, XM_005274632.1:c.2833C>A, XM_017029983.2:c.2824C>A, XM_017029983.1:c.2824C>A, XM_017029985.2:c.2833C>A, XM_017029985.1:c.2905C>A, XM_017029984.2:c.2743C>A, XM_017029984.1:c.2815C>A, XM_047442680.1:c.2734C>A, NP_055543.2:p.Pro945Thr, NP_001355325.1:p.Pro947Thr, NP_001355327.1:p.Pro982Thr, NP_001355324.1:p.Pro982Thr, NP_001355328.1:p.Pro942Thr, NP_001355331.1:p.Pro937Thr, NP_001355329.1:p.Pro905Thr, NP_001355330.1:p.Pro937Thr, NP_001355326.1:p.Pro945Thr, XP_005274689.3:p.Pro945Thr, XP_016885472.1:p.Pro942Thr, XP_016885474.2:p.Pro945Thr, XP_016885473.2:p.Pro915Thr, XP_047298636.1:p.Pro912Thr

                                    18.

                                    rs1479752361 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      X:12716928 (GRCh38)
                                      X:12735047 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:12716927:T:A,NC_000023.11:12716927:T:C
                                      Gene:
                                      FRMPD4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      C=0.000005/1 (GnomAD_exomes)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000023.11:g.12716928T>A, NC_000023.11:g.12716928T>C, NC_000023.10:g.12735047T>A, NC_000023.10:g.12735047T>C, NG_016419.3:g.899468T>A, NG_016419.3:g.899468T>C, NM_014728.3:c.2469T>A, NM_014728.3:c.2469T>C, NM_001368396.3:c.2475T>A, NM_001368396.3:c.2475T>C, NM_001368396.2:c.2475T>A, NM_001368396.2:c.2475T>C, NM_001368396.1:c.2475T>A, NM_001368396.1:c.2475T>C, NM_001368398.3:c.2580T>A, NM_001368398.3:c.2580T>C, NM_001368398.2:c.2580T>A, NM_001368398.2:c.2580T>C, NM_001368398.1:c.2580T>A, NM_001368398.1:c.2580T>C, NM_001368395.3:c.2580T>A, NM_001368395.3:c.2580T>C, NM_001368395.2:c.2580T>A, NM_001368395.2:c.2580T>C, NM_001368395.1:c.2580T>A, NM_001368395.1:c.2580T>C, NM_001368399.3:c.2460T>A, NM_001368399.3:c.2460T>C, NM_001368399.2:c.2460T>A, NM_001368399.2:c.2460T>C, NM_001368399.1:c.2460T>A, NM_001368399.1:c.2460T>C, NM_001368402.3:c.2445T>A, NM_001368402.3:c.2445T>C, NM_001368402.2:c.2445T>A, NM_001368402.2:c.2445T>C, NM_001368402.1:c.2445T>A, NM_001368402.1:c.2445T>C, NM_001368400.3:c.2349T>A, NM_001368400.3:c.2349T>C, NM_001368400.2:c.2349T>A, NM_001368400.2:c.2349T>C, NM_001368400.1:c.2349T>A, NM_001368400.1:c.2349T>C, NM_001368401.1:c.2445T>A, NM_001368401.1:c.2445T>C, NM_001368397.1:c.2469T>A, NM_001368397.1:c.2469T>C, XM_005274632.4:c.2469T>A, XM_005274632.4:c.2469T>C, XM_005274632.3:c.2541T>A, XM_005274632.3:c.2541T>C, XM_005274632.2:c.2469T>A, XM_005274632.2:c.2469T>C, XM_005274632.1:c.2469T>A, XM_005274632.1:c.2469T>C, XM_017029983.2:c.2460T>A, XM_017029983.2:c.2460T>C, XM_017029983.1:c.2460T>A, XM_017029983.1:c.2460T>C, XM_017029985.2:c.2469T>A, XM_017029985.2:c.2469T>C, XM_017029985.1:c.2541T>A, XM_017029985.1:c.2541T>C, XM_017029984.2:c.2379T>A, XM_017029984.2:c.2379T>C, XM_017029984.1:c.2451T>A, XM_017029984.1:c.2451T>C, XM_047442680.1:c.2370T>A, XM_047442680.1:c.2370T>C

                                      19.

                                      rs1478696245 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:12718644 (GRCh38)
                                        X:12736763 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:12718643:C:T
                                        Gene:
                                        FRMPD4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000016/3 (GnomAD_exomes)
                                        T=0.000023/6 (TOPMED)
                                        T=0.000045/1 (TOMMO)
                                        HGVS:
                                        NC_000023.11:g.12718644C>T, NC_000023.10:g.12736763C>T, NG_016419.3:g.901184C>T, NM_014728.3:c.3818C>T, NM_001368396.3:c.3824C>T, NM_001368396.2:c.3824C>T, NM_001368396.1:c.3824C>T, NM_001368398.3:c.3929C>T, NM_001368398.2:c.3929C>T, NM_001368398.1:c.3929C>T, NM_001368395.3:c.3929C>T, NM_001368395.2:c.3929C>T, NM_001368395.1:c.3929C>T, NM_001368399.3:c.3809C>T, NM_001368399.2:c.3809C>T, NM_001368399.1:c.3809C>T, NM_001368402.3:c.3794C>T, NM_001368402.2:c.3794C>T, NM_001368402.1:c.3794C>T, NM_001368400.3:c.3698C>T, NM_001368400.2:c.3698C>T, NM_001368400.1:c.3698C>T, NM_001368401.1:c.3794C>T, NM_001368397.1:c.3818C>T, XM_005274632.4:c.3818C>T, XM_005274632.3:c.3890C>T, XM_005274632.2:c.3818C>T, XM_005274632.1:c.3818C>T, XM_017029983.2:c.3809C>T, XM_017029983.1:c.3809C>T, XM_017029985.2:c.3818C>T, XM_017029985.1:c.3890C>T, XM_017029984.2:c.3728C>T, XM_017029984.1:c.3800C>T, XM_047442680.1:c.3719C>T, NP_055543.2:p.Ala1273Val, NP_001355325.1:p.Ala1275Val, NP_001355327.1:p.Ala1310Val, NP_001355324.1:p.Ala1310Val, NP_001355328.1:p.Ala1270Val, NP_001355331.1:p.Ala1265Val, NP_001355329.1:p.Ala1233Val, NP_001355330.1:p.Ala1265Val, NP_001355326.1:p.Ala1273Val, XP_005274689.3:p.Ala1273Val, XP_016885472.1:p.Ala1270Val, XP_016885474.2:p.Ala1273Val, XP_016885473.2:p.Ala1243Val, XP_047298636.1:p.Ala1240Val

                                        20.

                                        rs1476680725 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:12707528 (GRCh38)
                                          X:12725647 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:12707527:T:C
                                          Gene:
                                          FRMPD4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.12707528T>C, NC_000023.10:g.12725647T>C, NG_016419.3:g.890068T>C, NM_014728.3:c.1347T>C, NM_001368396.3:c.1353T>C, NM_001368396.2:c.1353T>C, NM_001368396.1:c.1353T>C, NM_001368398.3:c.1458T>C, NM_001368398.2:c.1458T>C, NM_001368398.1:c.1458T>C, NM_001368395.3:c.1458T>C, NM_001368395.2:c.1458T>C, NM_001368395.1:c.1458T>C, NM_001368399.3:c.1338T>C, NM_001368399.2:c.1338T>C, NM_001368399.1:c.1338T>C, NM_001368402.3:c.1323T>C, NM_001368402.2:c.1323T>C, NM_001368402.1:c.1323T>C, NM_001368400.3:c.1227T>C, NM_001368400.2:c.1227T>C, NM_001368400.1:c.1227T>C, NM_001368401.1:c.1323T>C, NM_001368397.1:c.1347T>C, XM_005274632.4:c.1347T>C, XM_005274632.3:c.1419T>C, XM_005274632.2:c.1347T>C, XM_005274632.1:c.1347T>C, XM_017029983.2:c.1338T>C, XM_017029983.1:c.1338T>C, XM_017029985.2:c.1347T>C, XM_017029985.1:c.1419T>C, XM_017029984.2:c.1257T>C, XM_017029984.1:c.1329T>C, XM_047442680.1:c.1248T>C

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