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Items: 1 to 20 of 552

1.

rs1490377991 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    4:151650126 (GRCh38)
    4:152571278 (GRCh37)
    Canonical SPDI:
    NC_000004.12:151650125:G:T
    Gene:
    FHIP1A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000004.12:g.151650126G>T, NC_000004.11:g.152571278G>T, XM_011532220.3:c.2085G>T, XM_011532220.2:c.2085G>T, XM_011532220.1:c.2085G>T, NM_001109977.3:c.2085G>T, NM_001109977.2:c.2085G>T, NM_001109977.1:c.2085G>T, XM_011532221.3:c.2085G>T, XM_011532221.2:c.2085G>T, XM_011532221.1:c.2085G>T, XM_011532223.3:c.2085G>T, XM_011532223.2:c.2085G>T, XM_011532223.1:c.2085G>T, XM_011532224.3:c.2085G>T, XM_011532224.2:c.2085G>T, XM_011532224.1:c.2085G>T, XM_024454201.2:c.2085G>T, XM_024454201.1:c.2085G>T, NM_001348694.2:c.2085G>T, NM_001348694.1:c.2085G>T, XM_005263199.2:c.2085G>T, XM_005263199.1:c.2085G>T, XM_047416127.1:c.2085G>T, XM_017008583.1:c.837G>T, XP_011530522.1:p.Glu695Asp, NP_001103447.1:p.Glu695Asp, XP_011530523.1:p.Glu695Asp, XP_011530525.1:p.Glu695Asp, XP_011530526.1:p.Glu695Asp, XP_024309969.1:p.Glu695Asp, NP_001335623.1:p.Glu695Asp, XP_005263256.1:p.Glu695Asp, XP_047272083.1:p.Glu695Asp, XP_016864072.1:p.Glu279Asp

    2.

    rs1490087118 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:151649632 (GRCh38)
      4:152570784 (GRCh37)
      Canonical SPDI:
      NC_000004.12:151649631:G:A
      Gene:
      FHIP1A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000004.12:g.151649632G>A, NC_000004.11:g.152570784G>A, XM_011532220.3:c.1591G>A, XM_011532220.2:c.1591G>A, XM_011532220.1:c.1591G>A, NM_001109977.3:c.1591G>A, NM_001109977.2:c.1591G>A, NM_001109977.1:c.1591G>A, XM_011532221.3:c.1591G>A, XM_011532221.2:c.1591G>A, XM_011532221.1:c.1591G>A, XM_011532223.3:c.1591G>A, XM_011532223.2:c.1591G>A, XM_011532223.1:c.1591G>A, XM_011532224.3:c.1591G>A, XM_011532224.2:c.1591G>A, XM_011532224.1:c.1591G>A, XM_024454201.2:c.1591G>A, XM_024454201.1:c.1591G>A, NM_001348694.2:c.1591G>A, NM_001348694.1:c.1591G>A, XM_005263199.2:c.1591G>A, XM_005263199.1:c.1591G>A, XM_047416127.1:c.1591G>A, XM_017008583.1:c.343G>A, XP_011530522.1:p.Asp531Asn, NP_001103447.1:p.Asp531Asn, XP_011530523.1:p.Asp531Asn, XP_011530525.1:p.Asp531Asn, XP_011530526.1:p.Asp531Asn, XP_024309969.1:p.Asp531Asn, NP_001335623.1:p.Asp531Asn, XP_005263256.1:p.Asp531Asn, XP_047272083.1:p.Asp531Asn, XP_016864072.1:p.Asp115Asn

      3.

      rs1490084216 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        4:151649740 (GRCh38)
        4:152570892 (GRCh37)
        Canonical SPDI:
        NC_000004.12:151649739:G:T
        Gene:
        FHIP1A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.00002/3 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.151649740G>T, NC_000004.11:g.152570892G>T, XM_011532220.3:c.1699G>T, XM_011532220.2:c.1699G>T, XM_011532220.1:c.1699G>T, NM_001109977.3:c.1699G>T, NM_001109977.2:c.1699G>T, NM_001109977.1:c.1699G>T, XM_011532221.3:c.1699G>T, XM_011532221.2:c.1699G>T, XM_011532221.1:c.1699G>T, XM_011532223.3:c.1699G>T, XM_011532223.2:c.1699G>T, XM_011532223.1:c.1699G>T, XM_011532224.3:c.1699G>T, XM_011532224.2:c.1699G>T, XM_011532224.1:c.1699G>T, XM_024454201.2:c.1699G>T, XM_024454201.1:c.1699G>T, NM_001348694.2:c.1699G>T, NM_001348694.1:c.1699G>T, XM_005263199.2:c.1699G>T, XM_005263199.1:c.1699G>T, XM_047416127.1:c.1699G>T, XM_017008583.1:c.451G>T, XP_011530522.1:p.Ala567Ser, NP_001103447.1:p.Ala567Ser, XP_011530523.1:p.Ala567Ser, XP_011530525.1:p.Ala567Ser, XP_011530526.1:p.Ala567Ser, XP_024309969.1:p.Ala567Ser, NP_001335623.1:p.Ala567Ser, XP_005263256.1:p.Ala567Ser, XP_047272083.1:p.Ala567Ser, XP_016864072.1:p.Ala151Ser

        4.

        rs1488625234 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          4:151649858 (GRCh38)
          4:152571011 (GRCh37)
          Canonical SPDI:
          NC_000004.12:151649858:CCCCCC:CCCCCCC
          Gene:
          FHIP1A (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant
          HGVS:
          NC_000004.12:g.151649864dup, NC_000004.11:g.152571016dup, XM_011532220.3:c.1823dup, XM_011532220.2:c.1823dup, XM_011532220.1:c.1823dup, NM_001109977.3:c.1823dup, NM_001109977.2:c.1823dup, NM_001109977.1:c.1823dup, XM_011532221.3:c.1823dup, XM_011532221.2:c.1823dup, XM_011532221.1:c.1823dup, XM_011532223.3:c.1823dup, XM_011532223.2:c.1823dup, XM_011532223.1:c.1823dup, XM_011532224.3:c.1823dup, XM_011532224.2:c.1823dup, XM_011532224.1:c.1823dup, XM_024454201.2:c.1823dup, XM_024454201.1:c.1823dup, NM_001348694.2:c.1823dup, NM_001348694.1:c.1823dup, XM_005263199.2:c.1823dup, XM_005263199.1:c.1823dup, XM_047416127.1:c.1823dup, XM_017008583.1:c.575dup, XP_011530522.1:p.Ala609fs, NP_001103447.1:p.Ala609fs, XP_011530523.1:p.Ala609fs, XP_011530525.1:p.Ala609fs, XP_011530526.1:p.Ala609fs, XP_024309969.1:p.Ala609fs, NP_001335623.1:p.Ala609fs, XP_005263256.1:p.Ala609fs, XP_047272083.1:p.Ala609fs, XP_016864072.1:p.Ala193fs

          5.

          rs1485517518 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:151662598 (GRCh38)
            4:152583750 (GRCh37)
            Canonical SPDI:
            NC_000004.12:151662597:G:A
            Gene:
            FHIP1A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1484214192 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:151649644 (GRCh38)
              4:152570796 (GRCh37)
              Canonical SPDI:
              NC_000004.12:151649643:T:C
              Gene:
              FHIP1A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.151649644T>C, NC_000004.11:g.152570796T>C, XM_011532220.3:c.1603T>C, XM_011532220.2:c.1603T>C, XM_011532220.1:c.1603T>C, NM_001109977.3:c.1603T>C, NM_001109977.2:c.1603T>C, NM_001109977.1:c.1603T>C, XM_011532221.3:c.1603T>C, XM_011532221.2:c.1603T>C, XM_011532221.1:c.1603T>C, XM_011532223.3:c.1603T>C, XM_011532223.2:c.1603T>C, XM_011532223.1:c.1603T>C, XM_011532224.3:c.1603T>C, XM_011532224.2:c.1603T>C, XM_011532224.1:c.1603T>C, XM_024454201.2:c.1603T>C, XM_024454201.1:c.1603T>C, NM_001348694.2:c.1603T>C, NM_001348694.1:c.1603T>C, XM_005263199.2:c.1603T>C, XM_005263199.1:c.1603T>C, XM_047416127.1:c.1603T>C, XM_017008583.1:c.355T>C, XP_011530522.1:p.Phe535Leu, NP_001103447.1:p.Phe535Leu, XP_011530523.1:p.Phe535Leu, XP_011530525.1:p.Phe535Leu, XP_011530526.1:p.Phe535Leu, XP_024309969.1:p.Phe535Leu, NP_001335623.1:p.Phe535Leu, XP_005263256.1:p.Phe535Leu, XP_047272083.1:p.Phe535Leu, XP_016864072.1:p.Phe119Leu

              7.

              rs1483501658 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:151650143 (GRCh38)
                4:152571295 (GRCh37)
                Canonical SPDI:
                NC_000004.12:151650142:A:G
                Gene:
                FHIP1A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000006/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.151650143A>G, NC_000004.11:g.152571295A>G, XM_011532220.3:c.2102A>G, XM_011532220.2:c.2102A>G, XM_011532220.1:c.2102A>G, NM_001109977.3:c.2102A>G, NM_001109977.2:c.2102A>G, NM_001109977.1:c.2102A>G, XM_011532221.3:c.2102A>G, XM_011532221.2:c.2102A>G, XM_011532221.1:c.2102A>G, XM_011532223.3:c.2102A>G, XM_011532223.2:c.2102A>G, XM_011532223.1:c.2102A>G, XM_011532224.3:c.2102A>G, XM_011532224.2:c.2102A>G, XM_011532224.1:c.2102A>G, XM_024454201.2:c.2102A>G, XM_024454201.1:c.2102A>G, NM_001348694.2:c.2102A>G, NM_001348694.1:c.2102A>G, XM_005263199.2:c.2102A>G, XM_005263199.1:c.2102A>G, XM_047416127.1:c.2102A>G, XM_017008583.1:c.854A>G, XP_011530522.1:p.Asn701Ser, NP_001103447.1:p.Asn701Ser, XP_011530523.1:p.Asn701Ser, XP_011530525.1:p.Asn701Ser, XP_011530526.1:p.Asn701Ser, XP_024309969.1:p.Asn701Ser, NP_001335623.1:p.Asn701Ser, XP_005263256.1:p.Asn701Ser, XP_047272083.1:p.Asn701Ser, XP_016864072.1:p.Asn285Ser

                8.

                rs1483271359 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:151656348 (GRCh38)
                  4:152577500 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:151656347:C:T
                  Gene:
                  FHIP1A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1482610530 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    4:151656813 (GRCh38)
                    4:152577965 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:151656812:C:A
                    Gene:
                    FHIP1A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000006/1 (GnomAD_exomes)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000004.12:g.151656813C>A, NC_000004.11:g.152577965C>A, XM_011532220.3:c.2784C>A, XM_011532220.2:c.2784C>A, XM_011532220.1:c.2784C>A, NM_001109977.3:c.2784C>A, NM_001109977.2:c.2784C>A, NM_001109977.1:c.2784C>A, XM_011532221.3:c.2784C>A, XM_011532221.2:c.2784C>A, XM_011532221.1:c.2784C>A, XM_011532223.3:c.2784C>A, XM_011532223.2:c.2784C>A, XM_011532223.1:c.2784C>A, XM_011532224.3:c.2784C>A, XM_011532224.2:c.2784C>A, XM_011532224.1:c.2784C>A, XM_024454201.2:c.2784C>A, XM_024454201.1:c.2784C>A, NM_001348694.2:c.2784C>A, NM_001348694.1:c.2784C>A, XM_005263199.2:c.2784C>A, XM_005263199.1:c.2784C>A, XM_047416127.1:c.2784C>A, XM_017008583.1:c.1536C>A, XP_011530522.1:p.Asp928Glu, NP_001103447.1:p.Asp928Glu, XP_011530523.1:p.Asp928Glu, XP_011530525.1:p.Asp928Glu, XP_011530526.1:p.Asp928Glu, XP_024309969.1:p.Asp928Glu, NP_001335623.1:p.Asp928Glu, XP_005263256.1:p.Asp928Glu, XP_047272083.1:p.Asp928Glu, XP_016864072.1:p.Asp512Glu

                    10.

                    rs1482265174 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:151649954 (GRCh38)
                      4:152571106 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:151649953:T:C
                      Gene:
                      FHIP1A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.151649954T>C, NC_000004.11:g.152571106T>C, XM_011532220.3:c.1913T>C, XM_011532220.2:c.1913T>C, XM_011532220.1:c.1913T>C, NM_001109977.3:c.1913T>C, NM_001109977.2:c.1913T>C, NM_001109977.1:c.1913T>C, XM_011532221.3:c.1913T>C, XM_011532221.2:c.1913T>C, XM_011532221.1:c.1913T>C, XM_011532223.3:c.1913T>C, XM_011532223.2:c.1913T>C, XM_011532223.1:c.1913T>C, XM_011532224.3:c.1913T>C, XM_011532224.2:c.1913T>C, XM_011532224.1:c.1913T>C, XM_024454201.2:c.1913T>C, XM_024454201.1:c.1913T>C, NM_001348694.2:c.1913T>C, NM_001348694.1:c.1913T>C, XM_005263199.2:c.1913T>C, XM_005263199.1:c.1913T>C, XM_047416127.1:c.1913T>C, XM_017008583.1:c.665T>C, XP_011530522.1:p.Phe638Ser, NP_001103447.1:p.Phe638Ser, XP_011530523.1:p.Phe638Ser, XP_011530525.1:p.Phe638Ser, XP_011530526.1:p.Phe638Ser, XP_024309969.1:p.Phe638Ser, NP_001335623.1:p.Phe638Ser, XP_005263256.1:p.Phe638Ser, XP_047272083.1:p.Phe638Ser, XP_016864072.1:p.Phe222Ser

                      11.

                      rs1481094785 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:151662733 (GRCh38)
                        4:152583885 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:151662732:C:T
                        Gene:
                        FHIP1A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1480526870 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          4:151649776 (GRCh38)
                          4:152570928 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:151649775:T:G
                          Gene:
                          FHIP1A (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000004.12:g.151649776T>G, NC_000004.11:g.152570928T>G, XM_011532220.3:c.1735T>G, XM_011532220.2:c.1735T>G, XM_011532220.1:c.1735T>G, NM_001109977.3:c.1735T>G, NM_001109977.2:c.1735T>G, NM_001109977.1:c.1735T>G, XM_011532221.3:c.1735T>G, XM_011532221.2:c.1735T>G, XM_011532221.1:c.1735T>G, XM_011532223.3:c.1735T>G, XM_011532223.2:c.1735T>G, XM_011532223.1:c.1735T>G, XM_011532224.3:c.1735T>G, XM_011532224.2:c.1735T>G, XM_011532224.1:c.1735T>G, XM_024454201.2:c.1735T>G, XM_024454201.1:c.1735T>G, NM_001348694.2:c.1735T>G, NM_001348694.1:c.1735T>G, XM_005263199.2:c.1735T>G, XM_005263199.1:c.1735T>G, XM_047416127.1:c.1735T>G, XM_017008583.1:c.487T>G, XP_011530522.1:p.Trp579Gly, NP_001103447.1:p.Trp579Gly, XP_011530523.1:p.Trp579Gly, XP_011530525.1:p.Trp579Gly, XP_011530526.1:p.Trp579Gly, XP_024309969.1:p.Trp579Gly, NP_001335623.1:p.Trp579Gly, XP_005263256.1:p.Trp579Gly, XP_047272083.1:p.Trp579Gly, XP_016864072.1:p.Trp163Gly

                          13.

                          rs1480157085 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            4:151650067 (GRCh38)
                            4:152571219 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:151650066:A:
                            Gene:
                            FHIP1A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.151650067del, NC_000004.11:g.152571219del, XM_011532220.3:c.2026del, XM_011532220.2:c.2026del, XM_011532220.1:c.2026del, NM_001109977.3:c.2026del, NM_001109977.2:c.2026del, NM_001109977.1:c.2026del, XM_011532221.3:c.2026del, XM_011532221.2:c.2026del, XM_011532221.1:c.2026del, XM_011532223.3:c.2026del, XM_011532223.2:c.2026del, XM_011532223.1:c.2026del, XM_011532224.3:c.2026del, XM_011532224.2:c.2026del, XM_011532224.1:c.2026del, XM_024454201.2:c.2026del, XM_024454201.1:c.2026del, NM_001348694.2:c.2026del, NM_001348694.1:c.2026del, XM_005263199.2:c.2026del, XM_005263199.1:c.2026del, XM_047416127.1:c.2026del, XM_017008583.1:c.778del, XP_011530522.1:p.Ser676fs, NP_001103447.1:p.Ser676fs, XP_011530523.1:p.Ser676fs, XP_011530525.1:p.Ser676fs, XP_011530526.1:p.Ser676fs, XP_024309969.1:p.Ser676fs, NP_001335623.1:p.Ser676fs, XP_005263256.1:p.Ser676fs, XP_047272083.1:p.Ser676fs, XP_016864072.1:p.Ser260fs

                            14.

                            rs1479936798 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              4:151649667 (GRCh38)
                              4:152570819 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:151649666:G:T
                              Gene:
                              FHIP1A (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000062/2 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.151649667G>T, NC_000004.11:g.152570819G>T, XM_011532220.3:c.1626G>T, XM_011532220.2:c.1626G>T, XM_011532220.1:c.1626G>T, NM_001109977.3:c.1626G>T, NM_001109977.2:c.1626G>T, NM_001109977.1:c.1626G>T, XM_011532221.3:c.1626G>T, XM_011532221.2:c.1626G>T, XM_011532221.1:c.1626G>T, XM_011532223.3:c.1626G>T, XM_011532223.2:c.1626G>T, XM_011532223.1:c.1626G>T, XM_011532224.3:c.1626G>T, XM_011532224.2:c.1626G>T, XM_011532224.1:c.1626G>T, XM_024454201.2:c.1626G>T, XM_024454201.1:c.1626G>T, NM_001348694.2:c.1626G>T, NM_001348694.1:c.1626G>T, XM_005263199.2:c.1626G>T, XM_005263199.1:c.1626G>T, XM_047416127.1:c.1626G>T, XM_017008583.1:c.378G>T, XP_011530522.1:p.Glu542Asp, NP_001103447.1:p.Glu542Asp, XP_011530523.1:p.Glu542Asp, XP_011530525.1:p.Glu542Asp, XP_011530526.1:p.Glu542Asp, XP_024309969.1:p.Glu542Asp, NP_001335623.1:p.Glu542Asp, XP_005263256.1:p.Glu542Asp, XP_047272083.1:p.Glu542Asp, XP_016864072.1:p.Glu126Asp

                              15.

                              rs1477900410 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:151662577 (GRCh38)
                                4:152583729 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:151662576:C:T
                                Gene:
                                FHIP1A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1477617115 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  4:151650237 (GRCh38)
                                  4:152571389 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:151650236:C:A,NC_000004.12:151650236:C:G,NC_000004.12:151650236:C:T
                                  Gene:
                                  FHIP1A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000028/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.151650237C>A, NC_000004.12:g.151650237C>G, NC_000004.12:g.151650237C>T, NC_000004.11:g.152571389C>A, NC_000004.11:g.152571389C>G, NC_000004.11:g.152571389C>T, XM_011532220.3:c.2196C>A, XM_011532220.3:c.2196C>G, XM_011532220.3:c.2196C>T, XM_011532220.2:c.2196C>A, XM_011532220.2:c.2196C>G, XM_011532220.2:c.2196C>T, XM_011532220.1:c.2196C>A, XM_011532220.1:c.2196C>G, XM_011532220.1:c.2196C>T, NM_001109977.3:c.2196C>A, NM_001109977.3:c.2196C>G, NM_001109977.3:c.2196C>T, NM_001109977.2:c.2196C>A, NM_001109977.2:c.2196C>G, NM_001109977.2:c.2196C>T, NM_001109977.1:c.2196C>A, NM_001109977.1:c.2196C>G, NM_001109977.1:c.2196C>T, XM_011532221.3:c.2196C>A, XM_011532221.3:c.2196C>G, XM_011532221.3:c.2196C>T, XM_011532221.2:c.2196C>A, XM_011532221.2:c.2196C>G, XM_011532221.2:c.2196C>T, XM_011532221.1:c.2196C>A, XM_011532221.1:c.2196C>G, XM_011532221.1:c.2196C>T, XM_011532223.3:c.2196C>A, XM_011532223.3:c.2196C>G, XM_011532223.3:c.2196C>T, XM_011532223.2:c.2196C>A, XM_011532223.2:c.2196C>G, XM_011532223.2:c.2196C>T, XM_011532223.1:c.2196C>A, XM_011532223.1:c.2196C>G, XM_011532223.1:c.2196C>T, XM_011532224.3:c.2196C>A, XM_011532224.3:c.2196C>G, XM_011532224.3:c.2196C>T, XM_011532224.2:c.2196C>A, XM_011532224.2:c.2196C>G, XM_011532224.2:c.2196C>T, XM_011532224.1:c.2196C>A, XM_011532224.1:c.2196C>G, XM_011532224.1:c.2196C>T, XM_024454201.2:c.2196C>A, XM_024454201.2:c.2196C>G, XM_024454201.2:c.2196C>T, XM_024454201.1:c.2196C>A, XM_024454201.1:c.2196C>G, XM_024454201.1:c.2196C>T, NM_001348694.2:c.2196C>A, NM_001348694.2:c.2196C>G, NM_001348694.2:c.2196C>T, NM_001348694.1:c.2196C>A, NM_001348694.1:c.2196C>G, NM_001348694.1:c.2196C>T, XM_005263199.2:c.2196C>A, XM_005263199.2:c.2196C>G, XM_005263199.2:c.2196C>T, XM_005263199.1:c.2196C>A, XM_005263199.1:c.2196C>G, XM_005263199.1:c.2196C>T, XM_047416127.1:c.2196C>A, XM_047416127.1:c.2196C>G, XM_047416127.1:c.2196C>T, XM_017008583.1:c.948C>A, XM_017008583.1:c.948C>G, XM_017008583.1:c.948C>T

                                  17.

                                  rs1476188905 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:151650101 (GRCh38)
                                    4:152571253 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:151650100:C:T
                                    Gene:
                                    FHIP1A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.151650101C>T, NC_000004.11:g.152571253C>T, XM_011532220.3:c.2060C>T, XM_011532220.2:c.2060C>T, XM_011532220.1:c.2060C>T, NM_001109977.3:c.2060C>T, NM_001109977.2:c.2060C>T, NM_001109977.1:c.2060C>T, XM_011532221.3:c.2060C>T, XM_011532221.2:c.2060C>T, XM_011532221.1:c.2060C>T, XM_011532223.3:c.2060C>T, XM_011532223.2:c.2060C>T, XM_011532223.1:c.2060C>T, XM_011532224.3:c.2060C>T, XM_011532224.2:c.2060C>T, XM_011532224.1:c.2060C>T, XM_024454201.2:c.2060C>T, XM_024454201.1:c.2060C>T, NM_001348694.2:c.2060C>T, NM_001348694.1:c.2060C>T, XM_005263199.2:c.2060C>T, XM_005263199.1:c.2060C>T, XM_047416127.1:c.2060C>T, XM_017008583.1:c.812C>T, XP_011530522.1:p.Thr687Ile, NP_001103447.1:p.Thr687Ile, XP_011530523.1:p.Thr687Ile, XP_011530525.1:p.Thr687Ile, XP_011530526.1:p.Thr687Ile, XP_024309969.1:p.Thr687Ile, NP_001335623.1:p.Thr687Ile, XP_005263256.1:p.Thr687Ile, XP_047272083.1:p.Thr687Ile, XP_016864072.1:p.Thr271Ile

                                    18.

                                    rs1475147588 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:151650431 (GRCh38)
                                      4:152571583 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:151650430:A:G
                                      Gene:
                                      FHIP1A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.151650431A>G, NC_000004.11:g.152571583A>G, XM_011532220.3:c.2390A>G, XM_011532220.2:c.2390A>G, XM_011532220.1:c.2390A>G, NM_001109977.3:c.2390A>G, NM_001109977.2:c.2390A>G, NM_001109977.1:c.2390A>G, XM_011532221.3:c.2390A>G, XM_011532221.2:c.2390A>G, XM_011532221.1:c.2390A>G, XM_011532223.3:c.2390A>G, XM_011532223.2:c.2390A>G, XM_011532223.1:c.2390A>G, XM_011532224.3:c.2390A>G, XM_011532224.2:c.2390A>G, XM_011532224.1:c.2390A>G, XM_024454201.2:c.2390A>G, XM_024454201.1:c.2390A>G, NM_001348694.2:c.2390A>G, NM_001348694.1:c.2390A>G, XM_005263199.2:c.2390A>G, XM_005263199.1:c.2390A>G, XM_047416127.1:c.2390A>G, XM_017008583.1:c.1142A>G, XP_011530522.1:p.Glu797Gly, NP_001103447.1:p.Glu797Gly, XP_011530523.1:p.Glu797Gly, XP_011530525.1:p.Glu797Gly, XP_011530526.1:p.Glu797Gly, XP_024309969.1:p.Glu797Gly, NP_001335623.1:p.Glu797Gly, XP_005263256.1:p.Glu797Gly, XP_047272083.1:p.Glu797Gly, XP_016864072.1:p.Glu381Gly

                                      19.

                                      rs1473302250 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:151649491 (GRCh38)
                                        4:152570643 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:151649490:T:C
                                        Gene:
                                        FHIP1A (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.00002/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.151649491T>C, NC_000004.11:g.152570643T>C, XM_011532220.3:c.1450T>C, XM_011532220.2:c.1450T>C, XM_011532220.1:c.1450T>C, NM_001109977.3:c.1450T>C, NM_001109977.2:c.1450T>C, NM_001109977.1:c.1450T>C, XM_011532221.3:c.1450T>C, XM_011532221.2:c.1450T>C, XM_011532221.1:c.1450T>C, XM_011532223.3:c.1450T>C, XM_011532223.2:c.1450T>C, XM_011532223.1:c.1450T>C, XM_011532224.3:c.1450T>C, XM_011532224.2:c.1450T>C, XM_011532224.1:c.1450T>C, XM_024454201.2:c.1450T>C, XM_024454201.1:c.1450T>C, NM_001348694.2:c.1450T>C, NM_001348694.1:c.1450T>C, XM_005263199.2:c.1450T>C, XM_005263199.1:c.1450T>C, XM_047416127.1:c.1450T>C, XM_017008583.1:c.202T>C, XP_011530522.1:p.Ser484Pro, NP_001103447.1:p.Ser484Pro, XP_011530523.1:p.Ser484Pro, XP_011530525.1:p.Ser484Pro, XP_011530526.1:p.Ser484Pro, XP_024309969.1:p.Ser484Pro, NP_001335623.1:p.Ser484Pro, XP_005263256.1:p.Ser484Pro, XP_047272083.1:p.Ser484Pro, XP_016864072.1:p.Ser68Pro

                                        20.

                                        rs1473067994 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:151650075 (GRCh38)
                                          4:152571227 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:151650074:C:T
                                          Gene:
                                          FHIP1A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          HGVS:

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