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Items: 1 to 20 of 1454

1.

rs1490895237 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    9:37745429 (GRCh38)
    9:37745426 (GRCh37)
    Canonical SPDI:
    NC_000009.12:37745428:T:G
    Gene:
    FRMPD1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.37745429T>G, NC_000009.11:g.37745426T>G, XM_011517806.3:c.3019T>G, XM_011517806.2:c.3019T>G, XM_011517806.1:c.3019T>G, XR_929220.3:n.4010T>G, NM_014907.3:c.3397T>G, NM_014907.2:c.3397T>G, XM_011517805.3:c.3022T>G, XM_011517805.2:c.3022T>G, XM_011517805.1:c.3022T>G, XM_024447454.2:c.2863T>G, XM_024447454.1:c.2863T>G, XM_024447456.2:c.2863T>G, XM_024447456.1:c.2863T>G, XM_017014481.2:c.3070T>G, XM_017014481.1:c.3070T>G, XM_017014482.2:c.3022T>G, XM_017014482.1:c.3022T>G, NM_001371223.1:c.3397T>G, XM_047423003.1:c.3397T>G, NM_001371224.1:c.3397T>G, NM_001371225.1:c.3397T>G, XM_047423004.1:c.2863T>G, XP_011516108.1:p.Ser1007Ala, NP_055722.2:p.Ser1133Ala, XP_011516107.1:p.Ser1008Ala, XP_024303222.1:p.Ser955Ala, XP_024303224.1:p.Ser955Ala, XP_016869970.1:p.Ser1024Ala, XP_016869971.1:p.Ser1008Ala, NP_001358152.1:p.Ser1133Ala, XP_047278959.1:p.Ser1133Ala, NP_001358153.1:p.Ser1133Ala, NP_001358154.1:p.Ser1133Ala, XP_047278960.1:p.Ser955Ala

    2.

    rs1489764502 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      9:37740613 (GRCh38)
      9:37740610 (GRCh37)
      Canonical SPDI:
      NC_000009.12:37740612:CCCC:CCC
      Gene:
      FRMPD1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCC=0./0 (ALFA)
      -=0.000004/1 (GnomAD_exomes)
      -=0.000011/3 (TOPMED)
      HGVS:
      NC_000009.12:g.37740616del, NC_000009.11:g.37740613del, XM_011517806.3:c.1710del, XM_011517806.2:c.1710del, XM_011517806.1:c.1710del, XR_929220.3:n.2233del, XR_929220.2:n.2214del, XR_929220.1:n.2193del, NM_014907.3:c.2088del, NM_014907.2:c.2088del, XM_011517805.3:c.1713del, XM_011517805.2:c.1713del, XM_011517805.1:c.1713del, XM_024447454.2:c.1554del, XM_024447454.1:c.1554del, XM_024447456.2:c.1554del, XM_024447456.1:c.1554del, XM_017014481.2:c.1761del, XM_017014481.1:c.1761del, XM_017014482.2:c.1713del, XM_017014482.1:c.1713del, NM_001371223.1:c.2088del, XM_047423003.1:c.2088del, NM_001371224.1:c.2088del, NM_001371225.1:c.2088del, XM_047423004.1:c.1554del, XP_011516108.1:p.Arg571fs, NP_055722.2:p.Arg697fs, XP_011516107.1:p.Arg572fs, XP_024303222.1:p.Arg519fs, XP_024303224.1:p.Arg519fs, XP_016869970.1:p.Arg588fs, XP_016869971.1:p.Arg572fs, NP_001358152.1:p.Arg697fs, XP_047278959.1:p.Arg697fs, NP_001358153.1:p.Arg697fs, NP_001358154.1:p.Arg697fs, XP_047278960.1:p.Arg519fs

      3.

      rs1489586287 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:37740687 (GRCh38)
        9:37740684 (GRCh37)
        Canonical SPDI:
        NC_000009.12:37740686:G:A
        Gene:
        FRMPD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.37740687G>A, NC_000009.11:g.37740684G>A, XM_011517806.3:c.1781G>A, XM_011517806.2:c.1781G>A, XM_011517806.1:c.1781G>A, XR_929220.3:n.2304G>A, XR_929220.2:n.2285G>A, XR_929220.1:n.2264G>A, NM_014907.3:c.2159G>A, NM_014907.2:c.2159G>A, XM_011517805.3:c.1784G>A, XM_011517805.2:c.1784G>A, XM_011517805.1:c.1784G>A, XM_024447454.2:c.1625G>A, XM_024447454.1:c.1625G>A, XM_024447456.2:c.1625G>A, XM_024447456.1:c.1625G>A, XM_017014481.2:c.1832G>A, XM_017014481.1:c.1832G>A, XM_017014482.2:c.1784G>A, XM_017014482.1:c.1784G>A, NM_001371223.1:c.2159G>A, XM_047423003.1:c.2159G>A, NM_001371224.1:c.2159G>A, NM_001371225.1:c.2159G>A, XM_047423004.1:c.1625G>A, XP_011516108.1:p.Ser594Asn, NP_055722.2:p.Ser720Asn, XP_011516107.1:p.Ser595Asn, XP_024303222.1:p.Ser542Asn, XP_024303224.1:p.Ser542Asn, XP_016869970.1:p.Ser611Asn, XP_016869971.1:p.Ser595Asn, NP_001358152.1:p.Ser720Asn, XP_047278959.1:p.Ser720Asn, NP_001358153.1:p.Ser720Asn, NP_001358154.1:p.Ser720Asn, XP_047278960.1:p.Ser542Asn

        4.

        rs1489018342 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          9:37740365 (GRCh38)
          9:37740362 (GRCh37)
          Canonical SPDI:
          NC_000009.12:37740364:G:C
          Gene:
          FRMPD1 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.37740365G>C, NC_000009.11:g.37740362G>C, XM_011517806.3:c.1459G>C, XM_011517806.2:c.1459G>C, XM_011517806.1:c.1459G>C, XR_929220.3:n.1982G>C, XR_929220.2:n.1963G>C, XR_929220.1:n.1942G>C, NM_014907.3:c.1837G>C, NM_014907.2:c.1837G>C, XM_011517805.3:c.1462G>C, XM_011517805.2:c.1462G>C, XM_011517805.1:c.1462G>C, XM_024447454.2:c.1303G>C, XM_024447454.1:c.1303G>C, XM_024447456.2:c.1303G>C, XM_024447456.1:c.1303G>C, XM_017014481.2:c.1510G>C, XM_017014481.1:c.1510G>C, XM_017014482.2:c.1462G>C, XM_017014482.1:c.1462G>C, NM_001371223.1:c.1837G>C, XM_047423003.1:c.1837G>C, NM_001371224.1:c.1837G>C, NM_001371225.1:c.1837G>C, XM_047423004.1:c.1303G>C, XP_011516108.1:p.Glu487Gln, NP_055722.2:p.Glu613Gln, XP_011516107.1:p.Glu488Gln, XP_024303222.1:p.Glu435Gln, XP_024303224.1:p.Glu435Gln, XP_016869970.1:p.Glu504Gln, XP_016869971.1:p.Glu488Gln, NP_001358152.1:p.Glu613Gln, XP_047278959.1:p.Glu613Gln, NP_001358153.1:p.Glu613Gln, NP_001358154.1:p.Glu613Gln, XP_047278960.1:p.Glu435Gln

          5.

          rs1488690102 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:37740689 (GRCh38)
            9:37740686 (GRCh37)
            Canonical SPDI:
            NC_000009.12:37740688:G:A
            Gene:
            FRMPD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.37740689G>A, NC_000009.11:g.37740686G>A, XM_011517806.3:c.1783G>A, XM_011517806.2:c.1783G>A, XM_011517806.1:c.1783G>A, XR_929220.3:n.2306G>A, XR_929220.2:n.2287G>A, XR_929220.1:n.2266G>A, NM_014907.3:c.2161G>A, NM_014907.2:c.2161G>A, XM_011517805.3:c.1786G>A, XM_011517805.2:c.1786G>A, XM_011517805.1:c.1786G>A, XM_024447454.2:c.1627G>A, XM_024447454.1:c.1627G>A, XM_024447456.2:c.1627G>A, XM_024447456.1:c.1627G>A, XM_017014481.2:c.1834G>A, XM_017014481.1:c.1834G>A, XM_017014482.2:c.1786G>A, XM_017014482.1:c.1786G>A, NM_001371223.1:c.2161G>A, XM_047423003.1:c.2161G>A, NM_001371224.1:c.2161G>A, NM_001371225.1:c.2161G>A, XM_047423004.1:c.1627G>A, XP_011516108.1:p.Asp595Asn, NP_055722.2:p.Asp721Asn, XP_011516107.1:p.Asp596Asn, XP_024303222.1:p.Asp543Asn, XP_024303224.1:p.Asp543Asn, XP_016869970.1:p.Asp612Asn, XP_016869971.1:p.Asp596Asn, NP_001358152.1:p.Asp721Asn, XP_047278959.1:p.Asp721Asn, NP_001358153.1:p.Asp721Asn, NP_001358154.1:p.Asp721Asn, XP_047278960.1:p.Asp543Asn

            6.

            rs1488612513 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:37744777 (GRCh38)
              9:37744774 (GRCh37)
              Canonical SPDI:
              NC_000009.12:37744776:C:T
              Gene:
              FRMPD1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              HGVS:

              7.

              rs1488214694 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                9:37733744 (GRCh38)
                9:37733741 (GRCh37)
                Canonical SPDI:
                NC_000009.12:37733743:T:
                Gene:
                FRMPD1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.37733744del, NC_000009.11:g.37733741del, XM_011517806.3:c.759del, XM_011517806.2:c.759del, XM_011517806.1:c.759del, XR_929220.3:n.1282del, XR_929220.2:n.1263del, XR_929220.1:n.1242del, NM_014907.3:c.1137del, NM_014907.2:c.1137del, XM_011517805.3:c.762del, XM_011517805.2:c.762del, XM_011517805.1:c.762del, XM_024447454.2:c.603del, XM_024447454.1:c.603del, XM_024447456.2:c.603del, XM_024447456.1:c.603del, XM_017014481.2:c.810del, XM_017014481.1:c.810del, XM_017014482.2:c.762del, XM_017014482.1:c.762del, NM_001371223.1:c.1137del, XM_047423003.1:c.1137del, NM_001371224.1:c.1137del, NM_001371225.1:c.1137del, XM_047423004.1:c.603del, XP_011516108.1:p.Ala254fs, NP_055722.2:p.Ala380fs, XP_011516107.1:p.Ala255fs, XP_024303222.1:p.Ala202fs, XP_024303224.1:p.Ala202fs, XP_016869970.1:p.Ala271fs, XP_016869971.1:p.Ala255fs, NP_001358152.1:p.Ala380fs, XP_047278959.1:p.Ala380fs, NP_001358153.1:p.Ala380fs, NP_001358154.1:p.Ala380fs, XP_047278960.1:p.Ala202fs

                8.

                rs1488030354 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  9:37740086 (GRCh38)
                  9:37740083 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:37740085:T:A
                  Gene:
                  FRMPD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.37740086T>A, NC_000009.11:g.37740083T>A, XM_011517806.3:c.1180T>A, XM_011517806.2:c.1180T>A, XM_011517806.1:c.1180T>A, XR_929220.3:n.1703T>A, XR_929220.2:n.1684T>A, XR_929220.1:n.1663T>A, NM_014907.3:c.1558T>A, NM_014907.2:c.1558T>A, XM_011517805.3:c.1183T>A, XM_011517805.2:c.1183T>A, XM_011517805.1:c.1183T>A, XM_024447454.2:c.1024T>A, XM_024447454.1:c.1024T>A, XM_024447456.2:c.1024T>A, XM_024447456.1:c.1024T>A, XM_017014481.2:c.1231T>A, XM_017014481.1:c.1231T>A, XM_017014482.2:c.1183T>A, XM_017014482.1:c.1183T>A, NM_001371223.1:c.1558T>A, XM_047423003.1:c.1558T>A, NM_001371224.1:c.1558T>A, NM_001371225.1:c.1558T>A, XM_047423004.1:c.1024T>A, XP_011516108.1:p.Ser394Thr, NP_055722.2:p.Ser520Thr, XP_011516107.1:p.Ser395Thr, XP_024303222.1:p.Ser342Thr, XP_024303224.1:p.Ser342Thr, XP_016869970.1:p.Ser411Thr, XP_016869971.1:p.Ser395Thr, NP_001358152.1:p.Ser520Thr, XP_047278959.1:p.Ser520Thr, NP_001358153.1:p.Ser520Thr, NP_001358154.1:p.Ser520Thr, XP_047278960.1:p.Ser342Thr

                  9.

                  rs1487995050 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>- [Show Flanks]
                    Chromosome:
                    9:37745439 (GRCh38)
                    9:37745436 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:37745438:CCCC:CCC
                    Gene:
                    FRMPD1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.37745442del, NC_000009.11:g.37745439del, XM_011517806.3:c.3032del, XM_011517806.2:c.3032del, XM_011517806.1:c.3032del, XR_929220.3:n.4023del, NM_014907.3:c.3410del, NM_014907.2:c.3410del, XM_011517805.3:c.3035del, XM_011517805.2:c.3035del, XM_011517805.1:c.3035del, XM_024447454.2:c.2876del, XM_024447454.1:c.2876del, XM_024447456.2:c.2876del, XM_024447456.1:c.2876del, XM_017014481.2:c.3083del, XM_017014481.1:c.3083del, XM_017014482.2:c.3035del, XM_017014482.1:c.3035del, NM_001371223.1:c.3410del, XM_047423003.1:c.3410del, NM_001371224.1:c.3410del, NM_001371225.1:c.3410del, XM_047423004.1:c.2876del, XP_011516108.1:p.Pro1011fs, NP_055722.2:p.Pro1137fs, XP_011516107.1:p.Pro1012fs, XP_024303222.1:p.Pro959fs, XP_024303224.1:p.Pro959fs, XP_016869970.1:p.Pro1028fs, XP_016869971.1:p.Pro1012fs, NP_001358152.1:p.Pro1137fs, XP_047278959.1:p.Pro1137fs, NP_001358153.1:p.Pro1137fs, NP_001358154.1:p.Pro1137fs, XP_047278960.1:p.Pro959fs

                    10.

                    rs1486636109 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      9:37745958 (GRCh38)
                      9:37745955 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:37745957:G:T
                      Gene:
                      FRMPD1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000009.12:g.37745958G>T, NC_000009.11:g.37745955G>T, XM_011517806.3:c.3548G>T, XM_011517806.2:c.3548G>T, XM_011517806.1:c.3548G>T, XR_929220.3:n.4539G>T, NM_014907.3:c.3926G>T, NM_014907.2:c.3926G>T, XM_011517805.3:c.3551G>T, XM_011517805.2:c.3551G>T, XM_011517805.1:c.3551G>T, XM_024447454.2:c.3392G>T, XM_024447454.1:c.3392G>T, XM_024447456.2:c.3392G>T, XM_024447456.1:c.3392G>T, XM_017014481.2:c.3599G>T, XM_017014481.1:c.3599G>T, XM_017014482.2:c.3551G>T, XM_017014482.1:c.3551G>T, NM_001371223.1:c.3926G>T, XM_047423003.1:c.3926G>T, NM_001371224.1:c.3926G>T, NM_001371225.1:c.3926G>T, XM_047423004.1:c.3392G>T, XP_011516108.1:p.Ser1183Ile, NP_055722.2:p.Ser1309Ile, XP_011516107.1:p.Ser1184Ile, XP_024303222.1:p.Ser1131Ile, XP_024303224.1:p.Ser1131Ile, XP_016869970.1:p.Ser1200Ile, XP_016869971.1:p.Ser1184Ile, NP_001358152.1:p.Ser1309Ile, XP_047278959.1:p.Ser1309Ile, NP_001358153.1:p.Ser1309Ile, NP_001358154.1:p.Ser1309Ile, XP_047278960.1:p.Ser1131Ile

                      11.

                      rs1485669346 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:37745356 (GRCh38)
                        9:37745353 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:37745355:A:G
                        Gene:
                        FRMPD1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1485651833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:37746348 (GRCh38)
                          9:37746345 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:37746347:C:T
                          Gene:
                          FRMPD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.37746348C>T, NC_000009.11:g.37746345C>T, XM_011517806.3:c.3938C>T, XM_011517806.2:c.3938C>T, XM_011517806.1:c.3938C>T, XR_929220.3:n.4929C>T, NM_014907.3:c.4316C>T, NM_014907.2:c.4316C>T, XM_011517805.3:c.3941C>T, XM_011517805.2:c.3941C>T, XM_011517805.1:c.3941C>T, XM_024447454.2:c.3782C>T, XM_024447454.1:c.3782C>T, XM_024447456.2:c.3782C>T, XM_024447456.1:c.3782C>T, XM_017014481.2:c.3989C>T, XM_017014481.1:c.3989C>T, XM_017014482.2:c.3941C>T, XM_017014482.1:c.3941C>T, NM_001371223.1:c.4316C>T, XM_047423003.1:c.4316C>T, NM_001371224.1:c.4316C>T, NM_001371225.1:c.4316C>T, XM_047423004.1:c.3782C>T, XP_011516108.1:p.Ser1313Phe, NP_055722.2:p.Ser1439Phe, XP_011516107.1:p.Ser1314Phe, XP_024303222.1:p.Ser1261Phe, XP_024303224.1:p.Ser1261Phe, XP_016869970.1:p.Ser1330Phe, XP_016869971.1:p.Ser1314Phe, NP_001358152.1:p.Ser1439Phe, XP_047278959.1:p.Ser1439Phe, NP_001358153.1:p.Ser1439Phe, NP_001358154.1:p.Ser1439Phe, XP_047278960.1:p.Ser1261Phe

                          13.

                          rs1483883436 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:37746745 (GRCh38)
                            9:37746742 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:37746744:G:A
                            Gene:
                            FRMPD1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1483484729 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:37740453 (GRCh38)
                              9:37740450 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:37740452:A:G
                              Gene:
                              FRMPD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000009.12:g.37740453A>G, NC_000009.11:g.37740450A>G, XM_011517806.3:c.1547A>G, XM_011517806.2:c.1547A>G, XM_011517806.1:c.1547A>G, XR_929220.3:n.2070A>G, XR_929220.2:n.2051A>G, XR_929220.1:n.2030A>G, NM_014907.3:c.1925A>G, NM_014907.2:c.1925A>G, XM_011517805.3:c.1550A>G, XM_011517805.2:c.1550A>G, XM_011517805.1:c.1550A>G, XM_024447454.2:c.1391A>G, XM_024447454.1:c.1391A>G, XM_024447456.2:c.1391A>G, XM_024447456.1:c.1391A>G, XM_017014481.2:c.1598A>G, XM_017014481.1:c.1598A>G, XM_017014482.2:c.1550A>G, XM_017014482.1:c.1550A>G, NM_001371223.1:c.1925A>G, XM_047423003.1:c.1925A>G, NM_001371224.1:c.1925A>G, NM_001371225.1:c.1925A>G, XM_047423004.1:c.1391A>G, XP_011516108.1:p.Asp516Gly, NP_055722.2:p.Asp642Gly, XP_011516107.1:p.Asp517Gly, XP_024303222.1:p.Asp464Gly, XP_024303224.1:p.Asp464Gly, XP_016869970.1:p.Asp533Gly, XP_016869971.1:p.Asp517Gly, NP_001358152.1:p.Asp642Gly, XP_047278959.1:p.Asp642Gly, NP_001358153.1:p.Asp642Gly, NP_001358154.1:p.Asp642Gly, XP_047278960.1:p.Asp464Gly

                              15.

                              rs1482369115 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:37740589 (GRCh38)
                                9:37740586 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:37740588:A:C
                                Gene:
                                FRMPD1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1481558562 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:37745365 (GRCh38)
                                  9:37745362 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:37745364:A:G
                                  Gene:
                                  FRMPD1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1481529758 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    9:37744563 (GRCh38)
                                    9:37744560 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:37744562:C:A
                                    Gene:
                                    FRMPD1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.37744563C>A, NC_000009.11:g.37744560C>A, XM_011517806.3:c.2153C>A, XM_011517806.2:c.2153C>A, XM_011517806.1:c.2153C>A, XR_929220.3:n.3144C>A, NM_014907.3:c.2531C>A, NM_014907.2:c.2531C>A, XM_011517805.3:c.2156C>A, XM_011517805.2:c.2156C>A, XM_011517805.1:c.2156C>A, XM_024447454.2:c.1997C>A, XM_024447454.1:c.1997C>A, XM_024447456.2:c.1997C>A, XM_024447456.1:c.1997C>A, XM_017014481.2:c.2204C>A, XM_017014481.1:c.2204C>A, XM_017014482.2:c.2156C>A, XM_017014482.1:c.2156C>A, NM_001371223.1:c.2531C>A, XM_047423003.1:c.2531C>A, NM_001371224.1:c.2531C>A, NM_001371225.1:c.2531C>A, XM_047423004.1:c.1997C>A, XP_011516108.1:p.Thr718Asn, NP_055722.2:p.Thr844Asn, XP_011516107.1:p.Thr719Asn, XP_024303222.1:p.Thr666Asn, XP_024303224.1:p.Thr666Asn, XP_016869970.1:p.Thr735Asn, XP_016869971.1:p.Thr719Asn, NP_001358152.1:p.Thr844Asn, XP_047278959.1:p.Thr844Asn, NP_001358153.1:p.Thr844Asn, NP_001358154.1:p.Thr844Asn, XP_047278960.1:p.Thr666Asn

                                    18.

                                    rs1479267320 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      9:37737219 (GRCh38)
                                      9:37737216 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:37737218:G:A,NC_000009.12:37737218:G:C
                                      Gene:
                                      FRMPD1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.37737219G>A, NC_000009.12:g.37737219G>C, NC_000009.11:g.37737216G>A, NC_000009.11:g.37737216G>C, XM_011517806.3:c.1147G>A, XM_011517806.3:c.1147G>C, XM_011517806.2:c.1147G>A, XM_011517806.2:c.1147G>C, XM_011517806.1:c.1147G>A, XM_011517806.1:c.1147G>C, XR_929220.3:n.1670G>A, XR_929220.3:n.1670G>C, XR_929220.2:n.1651G>A, XR_929220.2:n.1651G>C, XR_929220.1:n.1630G>A, XR_929220.1:n.1630G>C, NM_014907.3:c.1525G>A, NM_014907.3:c.1525G>C, NM_014907.2:c.1525G>A, NM_014907.2:c.1525G>C, XM_011517805.3:c.1150G>A, XM_011517805.3:c.1150G>C, XM_011517805.2:c.1150G>A, XM_011517805.2:c.1150G>C, XM_011517805.1:c.1150G>A, XM_011517805.1:c.1150G>C, XM_024447454.2:c.991G>A, XM_024447454.2:c.991G>C, XM_024447454.1:c.991G>A, XM_024447454.1:c.991G>C, XM_024447456.2:c.991G>A, XM_024447456.2:c.991G>C, XM_024447456.1:c.991G>A, XM_024447456.1:c.991G>C, XM_017014481.2:c.1198G>A, XM_017014481.2:c.1198G>C, XM_017014481.1:c.1198G>A, XM_017014481.1:c.1198G>C, XM_017014482.2:c.1150G>A, XM_017014482.2:c.1150G>C, XM_017014482.1:c.1150G>A, XM_017014482.1:c.1150G>C, NM_001371223.1:c.1525G>A, NM_001371223.1:c.1525G>C, XM_047423003.1:c.1525G>A, XM_047423003.1:c.1525G>C, NM_001371224.1:c.1525G>A, NM_001371224.1:c.1525G>C, NM_001371225.1:c.1525G>A, NM_001371225.1:c.1525G>C, XM_047423004.1:c.991G>A, XM_047423004.1:c.991G>C, XP_011516108.1:p.Ala383Thr, XP_011516108.1:p.Ala383Pro, NP_055722.2:p.Ala509Thr, NP_055722.2:p.Ala509Pro, XP_011516107.1:p.Ala384Thr, XP_011516107.1:p.Ala384Pro, XP_024303222.1:p.Ala331Thr, XP_024303222.1:p.Ala331Pro, XP_024303224.1:p.Ala331Thr, XP_024303224.1:p.Ala331Pro, XP_016869970.1:p.Ala400Thr, XP_016869970.1:p.Ala400Pro, XP_016869971.1:p.Ala384Thr, XP_016869971.1:p.Ala384Pro, NP_001358152.1:p.Ala509Thr, NP_001358152.1:p.Ala509Pro, XP_047278959.1:p.Ala509Thr, XP_047278959.1:p.Ala509Pro, NP_001358153.1:p.Ala509Thr, NP_001358153.1:p.Ala509Pro, NP_001358154.1:p.Ala509Thr, NP_001358154.1:p.Ala509Pro, XP_047278960.1:p.Ala331Thr, XP_047278960.1:p.Ala331Pro

                                      19.

                                      rs1478638942 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        9:37724250 (GRCh38)
                                        9:37724247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:37724249:A:C,NC_000009.12:37724249:A:G
                                        Gene:
                                        FRMPD1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000029/4 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.37724250A>C, NC_000009.12:g.37724250A>G, NC_000009.11:g.37724247A>C, NC_000009.11:g.37724247A>G, XM_011517806.3:c.164A>C, XM_011517806.3:c.164A>G, XM_011517806.2:c.164A>C, XM_011517806.2:c.164A>G, XM_011517806.1:c.164A>C, XM_011517806.1:c.164A>G, XR_929220.3:n.687A>C, XR_929220.3:n.687A>G, XR_929220.2:n.668A>C, XR_929220.2:n.668A>G, XR_929220.1:n.647A>C, XR_929220.1:n.647A>G, NM_014907.3:c.542A>C, NM_014907.3:c.542A>G, NM_014907.2:c.542A>C, NM_014907.2:c.542A>G, XM_011517805.3:c.167A>C, XM_011517805.3:c.167A>G, XM_011517805.2:c.167A>C, XM_011517805.2:c.167A>G, XM_011517805.1:c.167A>C, XM_011517805.1:c.167A>G, XM_024447454.2:c.8A>C, XM_024447454.2:c.8A>G, XM_024447454.1:c.8A>C, XM_024447454.1:c.8A>G, XM_024447456.2:c.8A>C, XM_024447456.2:c.8A>G, XM_024447456.1:c.8A>C, XM_024447456.1:c.8A>G, XM_017014481.2:c.215A>C, XM_017014481.2:c.215A>G, XM_017014481.1:c.215A>C, XM_017014481.1:c.215A>G, XM_017014482.2:c.167A>C, XM_017014482.2:c.167A>G, XM_017014482.1:c.167A>C, XM_017014482.1:c.167A>G, NM_001371223.1:c.542A>C, NM_001371223.1:c.542A>G, XM_047423003.1:c.542A>C, XM_047423003.1:c.542A>G, NM_001371224.1:c.542A>C, NM_001371224.1:c.542A>G, NM_001371225.1:c.542A>C, NM_001371225.1:c.542A>G, XM_047423004.1:c.8A>C, XM_047423004.1:c.8A>G, XP_011516108.1:p.Asn55Thr, XP_011516108.1:p.Asn55Ser, NP_055722.2:p.Asn181Thr, NP_055722.2:p.Asn181Ser, XP_011516107.1:p.Asn56Thr, XP_011516107.1:p.Asn56Ser, XP_024303222.1:p.Asn3Thr, XP_024303222.1:p.Asn3Ser, XP_024303224.1:p.Asn3Thr, XP_024303224.1:p.Asn3Ser, XP_016869970.1:p.Asn72Thr, XP_016869970.1:p.Asn72Ser, XP_016869971.1:p.Asn56Thr, XP_016869971.1:p.Asn56Ser, NP_001358152.1:p.Asn181Thr, NP_001358152.1:p.Asn181Ser, XP_047278959.1:p.Asn181Thr, XP_047278959.1:p.Asn181Ser, NP_001358153.1:p.Asn181Thr, NP_001358153.1:p.Asn181Ser, NP_001358154.1:p.Asn181Thr, NP_001358154.1:p.Asn181Ser, XP_047278960.1:p.Asn3Thr, XP_047278960.1:p.Asn3Ser

                                        20.

                                        rs1478630635 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          9:37740839 (GRCh38)
                                          9:37740836 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:37740838:T:A
                                          Gene:
                                          FRMPD1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.37740839T>A, NC_000009.11:g.37740836T>A, XM_011517806.3:c.1933T>A, XM_011517806.2:c.1933T>A, XM_011517806.1:c.1933T>A, XR_929220.3:n.2456T>A, XR_929220.2:n.2437T>A, XR_929220.1:n.2416T>A, NM_014907.3:c.2311T>A, NM_014907.2:c.2311T>A, XM_011517805.3:c.1936T>A, XM_011517805.2:c.1936T>A, XM_011517805.1:c.1936T>A, XM_024447454.2:c.1777T>A, XM_024447454.1:c.1777T>A, XM_024447456.2:c.1777T>A, XM_024447456.1:c.1777T>A, XM_017014481.2:c.1984T>A, XM_017014481.1:c.1984T>A, XM_017014482.2:c.1936T>A, XM_017014482.1:c.1936T>A, NM_001371223.1:c.2311T>A, XM_047423003.1:c.2311T>A, NM_001371224.1:c.2311T>A, NM_001371225.1:c.2311T>A, XM_047423004.1:c.1777T>A, XP_011516108.1:p.Tyr645Asn, NP_055722.2:p.Tyr771Asn, XP_011516107.1:p.Tyr646Asn, XP_024303222.1:p.Tyr593Asn, XP_024303224.1:p.Tyr593Asn, XP_016869970.1:p.Tyr662Asn, XP_016869971.1:p.Tyr646Asn, NP_001358152.1:p.Tyr771Asn, XP_047278959.1:p.Tyr771Asn, NP_001358153.1:p.Tyr771Asn, NP_001358154.1:p.Tyr771Asn, XP_047278960.1:p.Tyr593Asn

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