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Items: 1 to 20 of 1967

1.

rs1491295568 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    5:35704587 (GRCh38)
    5:35704690 (GRCh37)
    Canonical SPDI:
    NC_000005.10:35704587:T:TT
    Gene:
    SPEF2 (Varview)
    Functional Consequence:
    frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000005.10:g.35704588dup, NC_000005.9:g.35704690dup, XM_005248376.5:c.2433dup, XM_005248376.4:c.2433dup, XM_005248376.3:c.2433dup, XM_005248376.2:c.2433dup, XM_005248376.1:c.2433dup, XM_005248377.5:c.2418dup, XM_005248377.4:c.2418dup, XM_005248377.3:c.2418dup, XM_005248377.2:c.2418dup, XM_005248377.1:c.2418dup, XM_005248378.5:c.2433dup, XM_005248378.4:c.2433dup, XM_005248378.3:c.2433dup, XM_005248378.2:c.2433dup, XM_005248378.1:c.2433dup, XM_011514135.4:c.2433dup, XM_011514135.3:c.2433dup, XM_011514135.2:c.2433dup, XM_011514135.1:c.2433dup, XM_011514137.4:c.2418dup, XM_011514137.3:c.2418dup, XM_011514137.2:c.2418dup, XM_011514137.1:c.2418dup, XM_011514138.4:c.2433dup, XM_011514138.3:c.2433dup, XM_011514138.2:c.2433dup, XM_011514138.1:c.2433dup, XM_011514139.4:c.2433dup, XM_011514139.3:c.2433dup, XM_011514139.2:c.2433dup, XM_011514139.1:c.2433dup, XM_011514136.4:c.2433dup, XM_011514136.3:c.2433dup, XM_011514136.2:c.2433dup, XM_011514136.1:c.2433dup, NM_024867.4:c.2433dup, NM_024867.3:c.2433dup, XR_925655.3:n.2568dup, XR_925655.2:n.2536dup, XR_925655.1:n.2649dup, XM_011514140.3:c.2262dup, XM_011514140.2:c.2262dup, XM_011514140.1:c.2262dup, XM_017009880.3:c.2247dup, XM_017009880.2:c.2247dup, XM_017009880.1:c.2247dup, XM_017009882.3:c.2433dup, XM_017009882.2:c.2433dup, XM_017009882.1:c.2433dup, XM_024446219.2:c.2262dup, XM_024446219.1:c.2262dup, XM_047417766.1:c.2007dup, XM_047417765.1:c.2007dup, XM_047417767.1:c.2433dup, XM_047417768.1:c.2433dup, XM_047417769.1:c.2433dup, XM_047417770.1:c.2418dup, XP_005248433.1:p.Ile812fs, XP_005248434.1:p.Ile807fs, XP_005248435.1:p.Ile812fs, XP_011512437.1:p.Ile812fs, XP_011512439.1:p.Ile807fs, XP_011512440.1:p.Ile812fs, XP_011512441.1:p.Ile812fs, XP_011512438.1:p.Ile812fs, NP_079143.3:p.Ile812fs, XP_011512442.1:p.Ile755fs, XP_016865369.1:p.Ile750fs, XP_016865371.1:p.Ile812fs, XP_024301987.1:p.Ile755fs, XP_047273722.1:p.Ile670fs, XP_047273721.1:p.Ile670fs, XP_047273723.1:p.Ile812fs, XP_047273724.1:p.Ile812fs, XP_047273725.1:p.Ile812fs, XP_047273726.1:p.Ile807fs

    2.

    rs1490303148 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:35700559 (GRCh38)
      5:35700661 (GRCh37)
      Canonical SPDI:
      NC_000005.10:35700558:G:A
      Gene:
      SPEF2 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.35700559G>A, NC_000005.9:g.35700661G>A, XM_005248376.5:c.2205G>A, XM_005248376.4:c.2205G>A, XM_005248376.3:c.2205G>A, XM_005248376.2:c.2205G>A, XM_005248376.1:c.2205G>A, XM_005248377.5:c.2190G>A, XM_005248377.4:c.2190G>A, XM_005248377.3:c.2190G>A, XM_005248377.2:c.2190G>A, XM_005248377.1:c.2190G>A, XM_005248378.5:c.2205G>A, XM_005248378.4:c.2205G>A, XM_005248378.3:c.2205G>A, XM_005248378.2:c.2205G>A, XM_005248378.1:c.2205G>A, XM_011514135.4:c.2205G>A, XM_011514135.3:c.2205G>A, XM_011514135.2:c.2205G>A, XM_011514135.1:c.2205G>A, XM_011514137.4:c.2190G>A, XM_011514137.3:c.2190G>A, XM_011514137.2:c.2190G>A, XM_011514137.1:c.2190G>A, XM_011514138.4:c.2205G>A, XM_011514138.3:c.2205G>A, XM_011514138.2:c.2205G>A, XM_011514138.1:c.2205G>A, XM_011514139.4:c.2205G>A, XM_011514139.3:c.2205G>A, XM_011514139.2:c.2205G>A, XM_011514139.1:c.2205G>A, XM_011514136.4:c.2205G>A, XM_011514136.3:c.2205G>A, XM_011514136.2:c.2205G>A, XM_011514136.1:c.2205G>A, NM_024867.4:c.2205G>A, NM_024867.3:c.2205G>A, XR_925655.3:n.2340G>A, XR_925655.2:n.2308G>A, XR_925655.1:n.2421G>A, XM_011514140.3:c.2034G>A, XM_011514140.2:c.2034G>A, XM_011514140.1:c.2034G>A, XM_017009880.3:c.2019G>A, XM_017009880.2:c.2019G>A, XM_017009880.1:c.2019G>A, XM_017009882.3:c.2205G>A, XM_017009882.2:c.2205G>A, XM_017009882.1:c.2205G>A, XM_024446219.2:c.2034G>A, XM_024446219.1:c.2034G>A, XM_047417766.1:c.1779G>A, XM_047417765.1:c.1779G>A, XM_047417767.1:c.2205G>A, XM_047417768.1:c.2205G>A, XM_047417769.1:c.2205G>A, XM_047417770.1:c.2190G>A

      3.

      rs1490155118 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        5:35790160 (GRCh38)
        5:35790262 (GRCh37)
        Canonical SPDI:
        NC_000005.10:35790159:T:C
        Gene:
        SPEF2 (Varview)
        Functional Consequence:
        intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        C=0.000022/3 (GnomAD_exomes)
        C=0.000342/1 (KOREAN)
        HGVS:
        NC_000005.10:g.35790160T>C, NC_000005.9:g.35790262T>C, XM_011514135.4:c.5220T>C, XM_011514135.3:c.5220T>C, XM_011514135.2:c.5220T>C, XM_011514135.1:c.5220T>C, XM_011514137.4:c.5205T>C, XM_011514137.3:c.5205T>C, XM_011514137.2:c.5205T>C, XM_011514137.1:c.5205T>C, XM_011514138.4:c.5196T>C, XM_011514138.3:c.5196T>C, XM_011514138.2:c.5196T>C, XM_011514138.1:c.5196T>C, XM_011514139.4:c.5145T>C, XM_011514139.3:c.5145T>C, XM_011514139.2:c.5145T>C, XM_011514139.1:c.5145T>C, XM_011514136.4:c.5220T>C, XM_011514136.3:c.5220T>C, XM_011514136.2:c.5220T>C, XM_011514136.1:c.5220T>C, XR_925655.3:n.5355T>C, XR_925655.2:n.5323T>C, XR_925655.1:n.5436T>C, XM_011514140.3:c.5049T>C, XM_011514140.2:c.5049T>C, XM_011514140.1:c.5049T>C, XM_017009880.3:c.5034T>C, XM_017009880.2:c.5034T>C, XM_017009880.1:c.5034T>C, XM_047417766.1:c.4794T>C, XM_047417765.1:c.4794T>C

        4.

        rs1489717706 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:35705716 (GRCh38)
          5:35705818 (GRCh37)
          Canonical SPDI:
          NC_000005.10:35705715:T:C
          Gene:
          SPEF2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.35705716T>C, NC_000005.9:g.35705818T>C, XM_005248376.5:c.2573T>C, XM_005248376.4:c.2573T>C, XM_005248376.3:c.2573T>C, XM_005248376.2:c.2573T>C, XM_005248376.1:c.2573T>C, XM_005248377.5:c.2558T>C, XM_005248377.4:c.2558T>C, XM_005248377.3:c.2558T>C, XM_005248377.2:c.2558T>C, XM_005248377.1:c.2558T>C, XM_005248378.5:c.2573T>C, XM_005248378.4:c.2573T>C, XM_005248378.3:c.2573T>C, XM_005248378.2:c.2573T>C, XM_005248378.1:c.2573T>C, XM_011514135.4:c.2573T>C, XM_011514135.3:c.2573T>C, XM_011514135.2:c.2573T>C, XM_011514135.1:c.2573T>C, XM_011514137.4:c.2558T>C, XM_011514137.3:c.2558T>C, XM_011514137.2:c.2558T>C, XM_011514137.1:c.2558T>C, XM_011514138.4:c.2573T>C, XM_011514138.3:c.2573T>C, XM_011514138.2:c.2573T>C, XM_011514138.1:c.2573T>C, XM_011514139.4:c.2573T>C, XM_011514139.3:c.2573T>C, XM_011514139.2:c.2573T>C, XM_011514139.1:c.2573T>C, XM_011514136.4:c.2573T>C, XM_011514136.3:c.2573T>C, XM_011514136.2:c.2573T>C, XM_011514136.1:c.2573T>C, NM_024867.4:c.2573T>C, NM_024867.3:c.2573T>C, XR_925655.3:n.2708T>C, XR_925655.2:n.2676T>C, XR_925655.1:n.2789T>C, XM_011514140.3:c.2402T>C, XM_011514140.2:c.2402T>C, XM_011514140.1:c.2402T>C, XM_017009880.3:c.2387T>C, XM_017009880.2:c.2387T>C, XM_017009880.1:c.2387T>C, XM_017009882.3:c.2573T>C, XM_017009882.2:c.2573T>C, XM_017009882.1:c.2573T>C, XM_024446219.2:c.2402T>C, XM_024446219.1:c.2402T>C, XM_047417766.1:c.2147T>C, XM_047417765.1:c.2147T>C, XM_047417767.1:c.2573T>C, XM_047417768.1:c.2573T>C, XM_047417769.1:c.2573T>C, XM_047417770.1:c.2558T>C, XP_005248433.1:p.Leu858Ser, XP_005248434.1:p.Leu853Ser, XP_005248435.1:p.Leu858Ser, XP_011512437.1:p.Leu858Ser, XP_011512439.1:p.Leu853Ser, XP_011512440.1:p.Leu858Ser, XP_011512441.1:p.Leu858Ser, XP_011512438.1:p.Leu858Ser, NP_079143.3:p.Leu858Ser, XP_011512442.1:p.Leu801Ser, XP_016865369.1:p.Leu796Ser, XP_016865371.1:p.Leu858Ser, XP_024301987.1:p.Leu801Ser, XP_047273722.1:p.Leu716Ser, XP_047273721.1:p.Leu716Ser, XP_047273723.1:p.Leu858Ser, XP_047273724.1:p.Leu858Ser, XP_047273725.1:p.Leu858Ser, XP_047273726.1:p.Leu853Ser

          5.

          rs1489693335 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            5:35793249 (GRCh38)
            5:35793351 (GRCh37)
            Canonical SPDI:
            NC_000005.10:35793248:C:G
            Gene:
            SPEF2 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000005.10:g.35793249C>G, NC_000005.9:g.35793351C>G, XM_005248376.5:c.4645C>G, XM_005248376.4:c.4645C>G, XM_005248376.3:c.4645C>G, XM_005248376.2:c.4645C>G, XM_005248376.1:c.4645C>G, XM_005248377.5:c.4630C>G, XM_005248377.4:c.4630C>G, XM_005248377.3:c.4630C>G, XM_005248377.2:c.4630C>G, XM_005248377.1:c.4630C>G, XM_011514135.4:c.5467C>G, XM_011514135.3:c.5467C>G, XM_011514135.2:c.5467C>G, XM_011514135.1:c.5467C>G, XM_011514137.4:c.5452C>G, XM_011514137.3:c.5452C>G, XM_011514137.2:c.5452C>G, XM_011514137.1:c.5452C>G, XM_011514138.4:c.5443C>G, XM_011514138.3:c.5443C>G, XM_011514138.2:c.5443C>G, XM_011514138.1:c.5443C>G, XM_011514139.4:c.5392C>G, XM_011514139.3:c.5392C>G, XM_011514139.2:c.5392C>G, XM_011514139.1:c.5392C>G, XM_011514136.4:c.5467C>G, XM_011514136.3:c.5467C>G, XM_011514136.2:c.5467C>G, XM_011514136.1:c.5467C>G, NM_024867.4:c.4645C>G, NM_024867.3:c.4645C>G, XM_011514140.3:c.5296C>G, XM_011514140.2:c.5296C>G, XM_011514140.1:c.5296C>G, XM_017009880.3:c.5281C>G, XM_017009880.2:c.5281C>G, XM_017009880.1:c.5281C>G, XM_024446219.2:c.4399C>G, XM_024446219.1:c.4399C>G, XM_047417766.1:c.5041C>G, XM_047417765.1:c.5041C>G, XM_047417767.1:c.4570C>G, XP_005248433.1:p.Pro1549Ala, XP_005248434.1:p.Pro1544Ala, XP_011512437.1:p.Pro1823Ala, XP_011512439.1:p.Pro1818Ala, XP_011512440.1:p.Pro1815Ala, XP_011512441.1:p.Pro1798Ala, XP_011512438.1:p.Pro1823Ala, NP_079143.3:p.Pro1549Ala, XP_011512442.1:p.Pro1766Ala, XP_016865369.1:p.Pro1761Ala, XP_024301987.1:p.Pro1467Ala, XP_047273722.1:p.Pro1681Ala, XP_047273721.1:p.Pro1681Ala, XP_047273723.1:p.Pro1524Ala

            6.

            rs1489440014 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:35697758 (GRCh38)
              5:35697860 (GRCh37)
              Canonical SPDI:
              NC_000005.10:35697757:T:C
              Gene:
              SPEF2 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000005.10:g.35697758T>C, NC_000005.9:g.35697860T>C, XM_005248376.5:c.2106T>C, XM_005248376.4:c.2106T>C, XM_005248376.3:c.2106T>C, XM_005248376.2:c.2106T>C, XM_005248376.1:c.2106T>C, XM_005248377.5:c.2091T>C, XM_005248377.4:c.2091T>C, XM_005248377.3:c.2091T>C, XM_005248377.2:c.2091T>C, XM_005248377.1:c.2091T>C, XM_005248378.5:c.2106T>C, XM_005248378.4:c.2106T>C, XM_005248378.3:c.2106T>C, XM_005248378.2:c.2106T>C, XM_005248378.1:c.2106T>C, XM_011514135.4:c.2106T>C, XM_011514135.3:c.2106T>C, XM_011514135.2:c.2106T>C, XM_011514135.1:c.2106T>C, XM_011514137.4:c.2091T>C, XM_011514137.3:c.2091T>C, XM_011514137.2:c.2091T>C, XM_011514137.1:c.2091T>C, XM_011514138.4:c.2106T>C, XM_011514138.3:c.2106T>C, XM_011514138.2:c.2106T>C, XM_011514138.1:c.2106T>C, XM_011514139.4:c.2106T>C, XM_011514139.3:c.2106T>C, XM_011514139.2:c.2106T>C, XM_011514139.1:c.2106T>C, XM_011514136.4:c.2106T>C, XM_011514136.3:c.2106T>C, XM_011514136.2:c.2106T>C, XM_011514136.1:c.2106T>C, NM_024867.4:c.2106T>C, NM_024867.3:c.2106T>C, XR_925655.3:n.2241T>C, XR_925655.2:n.2209T>C, XR_925655.1:n.2322T>C, XM_011514140.3:c.1935T>C, XM_011514140.2:c.1935T>C, XM_011514140.1:c.1935T>C, XM_017009880.3:c.1920T>C, XM_017009880.2:c.1920T>C, XM_017009880.1:c.1920T>C, XM_017009882.3:c.2106T>C, XM_017009882.2:c.2106T>C, XM_017009882.1:c.2106T>C, XM_024446219.2:c.1935T>C, XM_024446219.1:c.1935T>C, XM_047417766.1:c.1680T>C, XM_047417765.1:c.1680T>C, XM_047417767.1:c.2106T>C, XM_047417768.1:c.2106T>C, XM_047417769.1:c.2106T>C, XM_047417770.1:c.2091T>C

              7.

              rs1489037623 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:35654697 (GRCh38)
                5:35654799 (GRCh37)
                Canonical SPDI:
                NC_000005.10:35654696:G:A
                Gene:
                SPEF2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000005.10:g.35654697G>A, NC_000005.9:g.35654799G>A, XM_005248376.5:c.949G>A, XM_005248376.4:c.949G>A, XM_005248376.3:c.949G>A, XM_005248376.2:c.949G>A, XM_005248376.1:c.949G>A, XM_005248377.5:c.949G>A, XM_005248377.4:c.949G>A, XM_005248377.3:c.949G>A, XM_005248377.2:c.949G>A, XM_005248377.1:c.949G>A, XM_005248378.5:c.949G>A, XM_005248378.4:c.949G>A, XM_005248378.3:c.949G>A, XM_005248378.2:c.949G>A, XM_005248378.1:c.949G>A, XM_011514135.4:c.949G>A, XM_011514135.3:c.949G>A, XM_011514135.2:c.949G>A, XM_011514135.1:c.949G>A, XM_011514137.4:c.949G>A, XM_011514137.3:c.949G>A, XM_011514137.2:c.949G>A, XM_011514137.1:c.949G>A, XM_011514138.4:c.949G>A, XM_011514138.3:c.949G>A, XM_011514138.2:c.949G>A, XM_011514138.1:c.949G>A, XM_011514139.4:c.949G>A, XM_011514139.3:c.949G>A, XM_011514139.2:c.949G>A, XM_011514139.1:c.949G>A, XM_011514136.4:c.949G>A, XM_011514136.3:c.949G>A, XM_011514136.2:c.949G>A, XM_011514136.1:c.949G>A, NM_024867.4:c.949G>A, NM_024867.3:c.949G>A, NM_144722.4:c.949G>A, NM_144722.3:c.949G>A, XR_925655.3:n.1084G>A, XR_925655.2:n.1052G>A, XR_925655.1:n.1165G>A, XM_011514140.3:c.778G>A, XM_011514140.2:c.778G>A, XM_011514140.1:c.778G>A, XM_017009880.3:c.778G>A, XM_017009880.2:c.778G>A, XM_017009880.1:c.778G>A, XM_017009882.3:c.949G>A, XM_017009882.2:c.949G>A, XM_017009882.1:c.949G>A, XM_024446219.2:c.778G>A, XM_024446219.1:c.778G>A, XM_047417766.1:c.523G>A, XM_047417765.1:c.523G>A, XM_047417767.1:c.949G>A, XM_047417768.1:c.949G>A, XM_047417769.1:c.949G>A, XM_047417770.1:c.949G>A, XP_005248433.1:p.Asp317Asn, XP_005248434.1:p.Asp317Asn, XP_005248435.1:p.Asp317Asn, XP_011512437.1:p.Asp317Asn, XP_011512439.1:p.Asp317Asn, XP_011512440.1:p.Asp317Asn, XP_011512441.1:p.Asp317Asn, XP_011512438.1:p.Asp317Asn, NP_079143.3:p.Asp317Asn, NP_653323.1:p.Asp317Asn, XP_011512442.1:p.Asp260Asn, XP_016865369.1:p.Asp260Asn, XP_016865371.1:p.Asp317Asn, XP_024301987.1:p.Asp260Asn, XP_047273722.1:p.Asp175Asn, XP_047273721.1:p.Asp175Asn, XP_047273723.1:p.Asp317Asn, XP_047273724.1:p.Asp317Asn, XP_047273725.1:p.Asp317Asn, XP_047273726.1:p.Asp317Asn

                8.

                rs1488690494 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  5:35646777 (GRCh38)
                  5:35646879 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:35646776:A:G
                  Gene:
                  SPEF2 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000005.10:g.35646777A>G, NC_000005.9:g.35646879A>G, XM_005248376.5:c.696A>G, XM_005248376.4:c.696A>G, XM_005248376.3:c.696A>G, XM_005248376.2:c.696A>G, XM_005248376.1:c.696A>G, XM_005248377.5:c.696A>G, XM_005248377.4:c.696A>G, XM_005248377.3:c.696A>G, XM_005248377.2:c.696A>G, XM_005248377.1:c.696A>G, XM_005248378.5:c.696A>G, XM_005248378.4:c.696A>G, XM_005248378.3:c.696A>G, XM_005248378.2:c.696A>G, XM_005248378.1:c.696A>G, XM_011514135.4:c.696A>G, XM_011514135.3:c.696A>G, XM_011514135.2:c.696A>G, XM_011514135.1:c.696A>G, XM_011514137.4:c.696A>G, XM_011514137.3:c.696A>G, XM_011514137.2:c.696A>G, XM_011514137.1:c.696A>G, XM_011514138.4:c.696A>G, XM_011514138.3:c.696A>G, XM_011514138.2:c.696A>G, XM_011514138.1:c.696A>G, XM_011514139.4:c.696A>G, XM_011514139.3:c.696A>G, XM_011514139.2:c.696A>G, XM_011514139.1:c.696A>G, XM_011514136.4:c.696A>G, XM_011514136.3:c.696A>G, XM_011514136.2:c.696A>G, XM_011514136.1:c.696A>G, NM_024867.4:c.696A>G, NM_024867.3:c.696A>G, NM_144722.4:c.696A>G, NM_144722.3:c.696A>G, XR_925655.3:n.831A>G, XR_925655.2:n.799A>G, XR_925655.1:n.912A>G, XM_011514140.3:c.525A>G, XM_011514140.2:c.525A>G, XM_011514140.1:c.525A>G, XM_017009880.3:c.525A>G, XM_017009880.2:c.525A>G, XM_017009880.1:c.525A>G, XM_017009882.3:c.696A>G, XM_017009882.2:c.696A>G, XM_017009882.1:c.696A>G, XM_024446219.2:c.525A>G, XM_024446219.1:c.525A>G, XM_047417766.1:c.270A>G, XM_047417765.1:c.270A>G, XM_047417767.1:c.696A>G, XM_047417768.1:c.696A>G, XM_047417769.1:c.696A>G, XM_047417770.1:c.696A>G

                  9.

                  rs1488247615 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:35807235 (GRCh38)
                    5:35807337 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:35807234:T:C
                    Gene:
                    SPEF2 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.35807235T>C, NC_000005.9:g.35807337T>C, XM_005248376.5:c.5361T>C, XM_005248376.4:c.5361T>C, XM_005248376.3:c.5361T>C, XM_005248376.2:c.5361T>C, XM_005248376.1:c.5361T>C, XM_005248377.5:c.5346T>C, XM_005248377.4:c.5346T>C, XM_005248377.3:c.5346T>C, XM_005248377.2:c.5346T>C, XM_005248377.1:c.5346T>C, XM_011514135.4:c.6183T>C, XM_011514135.3:c.6183T>C, XM_011514135.2:c.6183T>C, XM_011514135.1:c.6183T>C, XM_011514137.4:c.6168T>C, XM_011514137.3:c.6168T>C, XM_011514137.2:c.6168T>C, XM_011514137.1:c.6168T>C, XM_011514138.4:c.6159T>C, XM_011514138.3:c.6159T>C, XM_011514138.2:c.6159T>C, XM_011514138.1:c.6159T>C, XM_011514139.4:c.6108T>C, XM_011514139.3:c.6108T>C, XM_011514139.2:c.6108T>C, XM_011514139.1:c.6108T>C, XM_011514136.4:c.6183T>C, XM_011514136.3:c.6183T>C, XM_011514136.2:c.6183T>C, XM_011514136.1:c.6183T>C, NM_024867.4:c.5361T>C, NM_024867.3:c.5361T>C, XM_011514140.3:c.6012T>C, XM_011514140.2:c.6012T>C, XM_011514140.1:c.6012T>C, XM_017009880.3:c.5997T>C, XM_017009880.2:c.5997T>C, XM_017009880.1:c.5997T>C, XM_024446219.2:c.5115T>C, XM_024446219.1:c.5115T>C, XM_047417766.1:c.5757T>C, XM_047417765.1:c.5757T>C, XM_047417767.1:c.5286T>C

                    10.

                    rs1488237176 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      5:35670099 (GRCh38)
                      5:35670201 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:35670098:T:C
                      Gene:
                      SPEF2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.35670099T>C, NC_000005.9:g.35670201T>C, XM_005248376.5:c.1396T>C, XM_005248376.4:c.1396T>C, XM_005248376.3:c.1396T>C, XM_005248376.2:c.1396T>C, XM_005248376.1:c.1396T>C, XM_005248377.5:c.1396T>C, XM_005248377.4:c.1396T>C, XM_005248377.3:c.1396T>C, XM_005248377.2:c.1396T>C, XM_005248377.1:c.1396T>C, XM_005248378.5:c.1396T>C, XM_005248378.4:c.1396T>C, XM_005248378.3:c.1396T>C, XM_005248378.2:c.1396T>C, XM_005248378.1:c.1396T>C, XM_011514135.4:c.1396T>C, XM_011514135.3:c.1396T>C, XM_011514135.2:c.1396T>C, XM_011514135.1:c.1396T>C, XM_011514137.4:c.1396T>C, XM_011514137.3:c.1396T>C, XM_011514137.2:c.1396T>C, XM_011514137.1:c.1396T>C, XM_011514138.4:c.1396T>C, XM_011514138.3:c.1396T>C, XM_011514138.2:c.1396T>C, XM_011514138.1:c.1396T>C, XM_011514139.4:c.1396T>C, XM_011514139.3:c.1396T>C, XM_011514139.2:c.1396T>C, XM_011514139.1:c.1396T>C, XM_011514136.4:c.1396T>C, XM_011514136.3:c.1396T>C, XM_011514136.2:c.1396T>C, XM_011514136.1:c.1396T>C, NM_024867.4:c.1396T>C, NM_024867.3:c.1396T>C, NM_144722.4:c.1396T>C, NM_144722.3:c.1396T>C, XR_925655.3:n.1531T>C, XR_925655.2:n.1499T>C, XR_925655.1:n.1612T>C, XM_011514140.3:c.1225T>C, XM_011514140.2:c.1225T>C, XM_011514140.1:c.1225T>C, XM_017009880.3:c.1225T>C, XM_017009880.2:c.1225T>C, XM_017009880.1:c.1225T>C, XM_017009882.3:c.1396T>C, XM_017009882.2:c.1396T>C, XM_017009882.1:c.1396T>C, XM_024446219.2:c.1225T>C, XM_024446219.1:c.1225T>C, XM_047417766.1:c.970T>C, XM_047417765.1:c.970T>C, XM_047417767.1:c.1396T>C, XM_047417768.1:c.1396T>C, XM_047417769.1:c.1396T>C, XM_047417770.1:c.1396T>C, XP_005248433.1:p.Phe466Leu, XP_005248434.1:p.Phe466Leu, XP_005248435.1:p.Phe466Leu, XP_011512437.1:p.Phe466Leu, XP_011512439.1:p.Phe466Leu, XP_011512440.1:p.Phe466Leu, XP_011512441.1:p.Phe466Leu, XP_011512438.1:p.Phe466Leu, NP_079143.3:p.Phe466Leu, NP_653323.1:p.Phe466Leu, XP_011512442.1:p.Phe409Leu, XP_016865369.1:p.Phe409Leu, XP_016865371.1:p.Phe466Leu, XP_024301987.1:p.Phe409Leu, XP_047273722.1:p.Phe324Leu, XP_047273721.1:p.Phe324Leu, XP_047273723.1:p.Phe466Leu, XP_047273724.1:p.Phe466Leu, XP_047273725.1:p.Phe466Leu, XP_047273726.1:p.Phe466Leu

                      11.

                      rs1487955589 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:35806767 (GRCh38)
                        5:35806869 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:35806766:A:G
                        Gene:
                        SPEF2 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000005.10:g.35806767A>G, NC_000005.9:g.35806869A>G, XM_005248376.5:c.5071A>G, XM_005248376.4:c.5071A>G, XM_005248376.3:c.5071A>G, XM_005248376.2:c.5071A>G, XM_005248376.1:c.5071A>G, XM_005248377.5:c.5056A>G, XM_005248377.4:c.5056A>G, XM_005248377.3:c.5056A>G, XM_005248377.2:c.5056A>G, XM_005248377.1:c.5056A>G, XM_011514135.4:c.5893A>G, XM_011514135.3:c.5893A>G, XM_011514135.2:c.5893A>G, XM_011514135.1:c.5893A>G, XM_011514137.4:c.5878A>G, XM_011514137.3:c.5878A>G, XM_011514137.2:c.5878A>G, XM_011514137.1:c.5878A>G, XM_011514138.4:c.5869A>G, XM_011514138.3:c.5869A>G, XM_011514138.2:c.5869A>G, XM_011514138.1:c.5869A>G, XM_011514139.4:c.5818A>G, XM_011514139.3:c.5818A>G, XM_011514139.2:c.5818A>G, XM_011514139.1:c.5818A>G, XM_011514136.4:c.5893A>G, XM_011514136.3:c.5893A>G, XM_011514136.2:c.5893A>G, XM_011514136.1:c.5893A>G, NM_024867.4:c.5071A>G, NM_024867.3:c.5071A>G, XM_011514140.3:c.5722A>G, XM_011514140.2:c.5722A>G, XM_011514140.1:c.5722A>G, XM_017009880.3:c.5707A>G, XM_017009880.2:c.5707A>G, XM_017009880.1:c.5707A>G, XM_024446219.2:c.4825A>G, XM_024446219.1:c.4825A>G, XM_047417766.1:c.5467A>G, XM_047417765.1:c.5467A>G, XM_047417767.1:c.4996A>G, XP_005248433.1:p.Arg1691Gly, XP_005248434.1:p.Arg1686Gly, XP_011512437.1:p.Arg1965Gly, XP_011512439.1:p.Arg1960Gly, XP_011512440.1:p.Arg1957Gly, XP_011512441.1:p.Arg1940Gly, XP_011512438.1:p.Arg1965Gly, NP_079143.3:p.Arg1691Gly, XP_011512442.1:p.Arg1908Gly, XP_016865369.1:p.Arg1903Gly, XP_024301987.1:p.Arg1609Gly, XP_047273722.1:p.Arg1823Gly, XP_047273721.1:p.Arg1823Gly, XP_047273723.1:p.Arg1666Gly

                        12.

                        rs1487825165 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:35667176 (GRCh38)
                          5:35667278 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:35667175:G:A
                          Gene:
                          SPEF2 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000011/3 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000005.10:g.35667176G>A, NC_000005.9:g.35667278G>A, XM_005248376.5:c.1272G>A, XM_005248376.4:c.1272G>A, XM_005248376.3:c.1272G>A, XM_005248376.2:c.1272G>A, XM_005248376.1:c.1272G>A, XM_005248377.5:c.1272G>A, XM_005248377.4:c.1272G>A, XM_005248377.3:c.1272G>A, XM_005248377.2:c.1272G>A, XM_005248377.1:c.1272G>A, XM_005248378.5:c.1272G>A, XM_005248378.4:c.1272G>A, XM_005248378.3:c.1272G>A, XM_005248378.2:c.1272G>A, XM_005248378.1:c.1272G>A, XM_011514135.4:c.1272G>A, XM_011514135.3:c.1272G>A, XM_011514135.2:c.1272G>A, XM_011514135.1:c.1272G>A, XM_011514137.4:c.1272G>A, XM_011514137.3:c.1272G>A, XM_011514137.2:c.1272G>A, XM_011514137.1:c.1272G>A, XM_011514138.4:c.1272G>A, XM_011514138.3:c.1272G>A, XM_011514138.2:c.1272G>A, XM_011514138.1:c.1272G>A, XM_011514139.4:c.1272G>A, XM_011514139.3:c.1272G>A, XM_011514139.2:c.1272G>A, XM_011514139.1:c.1272G>A, XM_011514136.4:c.1272G>A, XM_011514136.3:c.1272G>A, XM_011514136.2:c.1272G>A, XM_011514136.1:c.1272G>A, NM_024867.4:c.1272G>A, NM_024867.3:c.1272G>A, NM_144722.4:c.1272G>A, NM_144722.3:c.1272G>A, XR_925655.3:n.1407G>A, XR_925655.2:n.1375G>A, XR_925655.1:n.1488G>A, XM_011514140.3:c.1101G>A, XM_011514140.2:c.1101G>A, XM_011514140.1:c.1101G>A, XM_017009880.3:c.1101G>A, XM_017009880.2:c.1101G>A, XM_017009880.1:c.1101G>A, XM_017009882.3:c.1272G>A, XM_017009882.2:c.1272G>A, XM_017009882.1:c.1272G>A, XM_024446219.2:c.1101G>A, XM_024446219.1:c.1101G>A, XM_047417766.1:c.846G>A, XM_047417765.1:c.846G>A, XM_047417767.1:c.1272G>A, XM_047417768.1:c.1272G>A, XM_047417769.1:c.1272G>A, XM_047417770.1:c.1272G>A

                          13.

                          rs1487823376 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:35691206 (GRCh38)
                            5:35691308 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:35691205:T:C
                            Gene:
                            SPEF2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.35691206T>C, NC_000005.9:g.35691308T>C, XM_005248376.5:c.1694T>C, XM_005248376.4:c.1694T>C, XM_005248376.3:c.1694T>C, XM_005248376.2:c.1694T>C, XM_005248376.1:c.1694T>C, XM_005248377.5:c.1694T>C, XM_005248377.4:c.1694T>C, XM_005248377.3:c.1694T>C, XM_005248377.2:c.1694T>C, XM_005248377.1:c.1694T>C, XM_005248378.5:c.1694T>C, XM_005248378.4:c.1694T>C, XM_005248378.3:c.1694T>C, XM_005248378.2:c.1694T>C, XM_005248378.1:c.1694T>C, XM_011514135.4:c.1694T>C, XM_011514135.3:c.1694T>C, XM_011514135.2:c.1694T>C, XM_011514135.1:c.1694T>C, XM_011514137.4:c.1694T>C, XM_011514137.3:c.1694T>C, XM_011514137.2:c.1694T>C, XM_011514137.1:c.1694T>C, XM_011514138.4:c.1694T>C, XM_011514138.3:c.1694T>C, XM_011514138.2:c.1694T>C, XM_011514138.1:c.1694T>C, XM_011514139.4:c.1694T>C, XM_011514139.3:c.1694T>C, XM_011514139.2:c.1694T>C, XM_011514139.1:c.1694T>C, XM_011514136.4:c.1694T>C, XM_011514136.3:c.1694T>C, XM_011514136.2:c.1694T>C, XM_011514136.1:c.1694T>C, NM_024867.4:c.1694T>C, NM_024867.3:c.1694T>C, XR_925655.3:n.1829T>C, XR_925655.2:n.1797T>C, XR_925655.1:n.1910T>C, XM_011514140.3:c.1523T>C, XM_011514140.2:c.1523T>C, XM_011514140.1:c.1523T>C, XM_017009880.3:c.1523T>C, XM_017009880.2:c.1523T>C, XM_017009880.1:c.1523T>C, XM_017009882.3:c.1694T>C, XM_017009882.2:c.1694T>C, XM_017009882.1:c.1694T>C, XM_024446219.2:c.1523T>C, XM_024446219.1:c.1523T>C, XM_047417766.1:c.1268T>C, XM_047417765.1:c.1268T>C, XM_047417767.1:c.1694T>C, XM_047417768.1:c.1694T>C, XM_047417769.1:c.1694T>C, XM_047417770.1:c.1694T>C, XP_005248433.1:p.Leu565Ser, XP_005248434.1:p.Leu565Ser, XP_005248435.1:p.Leu565Ser, XP_011512437.1:p.Leu565Ser, XP_011512439.1:p.Leu565Ser, XP_011512440.1:p.Leu565Ser, XP_011512441.1:p.Leu565Ser, XP_011512438.1:p.Leu565Ser, NP_079143.3:p.Leu565Ser, XP_011512442.1:p.Leu508Ser, XP_016865369.1:p.Leu508Ser, XP_016865371.1:p.Leu565Ser, XP_024301987.1:p.Leu508Ser, XP_047273722.1:p.Leu423Ser, XP_047273721.1:p.Leu423Ser, XP_047273723.1:p.Leu565Ser, XP_047273724.1:p.Leu565Ser, XP_047273725.1:p.Leu565Ser, XP_047273726.1:p.Leu565Ser

                            14.

                            rs1487238178 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:35789240 (GRCh38)
                              5:35789342 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:35789239:T:C
                              Gene:
                              SPEF2 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD_exomes)
                              C=0.000014/2 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000005.10:g.35789240T>C, NC_000005.9:g.35789342T>C, NG_083671.1:g.717T>C, XM_011514135.4:c.4616T>C, XM_011514135.3:c.4616T>C, XM_011514135.2:c.4616T>C, XM_011514135.1:c.4616T>C, XM_011514137.4:c.4601T>C, XM_011514137.3:c.4601T>C, XM_011514137.2:c.4601T>C, XM_011514137.1:c.4601T>C, XM_011514138.4:c.4592T>C, XM_011514138.3:c.4592T>C, XM_011514138.2:c.4592T>C, XM_011514138.1:c.4592T>C, XM_011514139.4:c.4541T>C, XM_011514139.3:c.4541T>C, XM_011514139.2:c.4541T>C, XM_011514139.1:c.4541T>C, XM_011514136.4:c.4616T>C, XM_011514136.3:c.4616T>C, XM_011514136.2:c.4616T>C, XM_011514136.1:c.4616T>C, XR_925655.3:n.4751T>C, XR_925655.2:n.4719T>C, XR_925655.1:n.4832T>C, XM_011514140.3:c.4445T>C, XM_011514140.2:c.4445T>C, XM_011514140.1:c.4445T>C, XM_017009880.3:c.4430T>C, XM_017009880.2:c.4430T>C, XM_017009880.1:c.4430T>C, XM_047417766.1:c.4190T>C, XM_047417765.1:c.4190T>C, XM_047417768.1:c.*63T>C, XP_011512437.1:p.Phe1539Ser, XP_011512439.1:p.Phe1534Ser, XP_011512440.1:p.Phe1531Ser, XP_011512441.1:p.Phe1514Ser, XP_011512438.1:p.Phe1539Ser, XP_011512442.1:p.Phe1482Ser, XP_016865369.1:p.Phe1477Ser, XP_047273722.1:p.Phe1397Ser, XP_047273721.1:p.Phe1397Ser

                              15.

                              rs1487185442 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                5:35727784 (GRCh38)
                                5:35727886 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:35727783:A:T
                                Gene:
                                SPEF2 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.35727784A>T, NC_000005.9:g.35727886A>T, XM_005248376.5:c.3024A>T, XM_005248376.4:c.3024A>T, XM_005248376.3:c.3024A>T, XM_005248376.2:c.3024A>T, XM_005248376.1:c.3024A>T, XM_005248377.5:c.3009A>T, XM_005248377.4:c.3009A>T, XM_005248377.3:c.3009A>T, XM_005248377.2:c.3009A>T, XM_005248377.1:c.3009A>T, XM_011514135.4:c.3024A>T, XM_011514135.3:c.3024A>T, XM_011514135.2:c.3024A>T, XM_011514135.1:c.3024A>T, XM_011514137.4:c.3009A>T, XM_011514137.3:c.3009A>T, XM_011514137.2:c.3009A>T, XM_011514137.1:c.3009A>T, XM_011514138.4:c.3000A>T, XM_011514138.3:c.3000A>T, XM_011514138.2:c.3000A>T, XM_011514138.1:c.3000A>T, XM_011514139.4:c.2949A>T, XM_011514139.3:c.2949A>T, XM_011514139.2:c.2949A>T, XM_011514139.1:c.2949A>T, XM_011514136.4:c.3024A>T, XM_011514136.3:c.3024A>T, XM_011514136.2:c.3024A>T, XM_011514136.1:c.3024A>T, NM_024867.4:c.3024A>T, NM_024867.3:c.3024A>T, XR_925655.3:n.3159A>T, XR_925655.2:n.3127A>T, XR_925655.1:n.3240A>T, XM_011514140.3:c.2853A>T, XM_011514140.2:c.2853A>T, XM_011514140.1:c.2853A>T, XM_017009880.3:c.2838A>T, XM_017009880.2:c.2838A>T, XM_017009880.1:c.2838A>T, XM_017009882.3:c.3024A>T, XM_017009882.2:c.3024A>T, XM_017009882.1:c.3024A>T, XM_024446219.2:c.2778A>T, XM_024446219.1:c.2778A>T, XM_047417766.1:c.2598A>T, XM_047417765.1:c.2598A>T, XM_047417767.1:c.2949A>T, XM_047417768.1:c.3024A>T, XM_047417769.1:c.3024A>T

                                16.

                                rs1486183648 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:35646767 (GRCh38)
                                  5:35646869 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:35646766:T:C
                                  Gene:
                                  SPEF2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000005.10:g.35646767T>C, NC_000005.9:g.35646869T>C, XM_005248376.5:c.686T>C, XM_005248376.4:c.686T>C, XM_005248376.3:c.686T>C, XM_005248376.2:c.686T>C, XM_005248376.1:c.686T>C, XM_005248377.5:c.686T>C, XM_005248377.4:c.686T>C, XM_005248377.3:c.686T>C, XM_005248377.2:c.686T>C, XM_005248377.1:c.686T>C, XM_005248378.5:c.686T>C, XM_005248378.4:c.686T>C, XM_005248378.3:c.686T>C, XM_005248378.2:c.686T>C, XM_005248378.1:c.686T>C, XM_011514135.4:c.686T>C, XM_011514135.3:c.686T>C, XM_011514135.2:c.686T>C, XM_011514135.1:c.686T>C, XM_011514137.4:c.686T>C, XM_011514137.3:c.686T>C, XM_011514137.2:c.686T>C, XM_011514137.1:c.686T>C, XM_011514138.4:c.686T>C, XM_011514138.3:c.686T>C, XM_011514138.2:c.686T>C, XM_011514138.1:c.686T>C, XM_011514139.4:c.686T>C, XM_011514139.3:c.686T>C, XM_011514139.2:c.686T>C, XM_011514139.1:c.686T>C, XM_011514136.4:c.686T>C, XM_011514136.3:c.686T>C, XM_011514136.2:c.686T>C, XM_011514136.1:c.686T>C, NM_024867.4:c.686T>C, NM_024867.3:c.686T>C, NM_144722.4:c.686T>C, NM_144722.3:c.686T>C, XR_925655.3:n.821T>C, XR_925655.2:n.789T>C, XR_925655.1:n.902T>C, XM_011514140.3:c.515T>C, XM_011514140.2:c.515T>C, XM_011514140.1:c.515T>C, XM_017009880.3:c.515T>C, XM_017009880.2:c.515T>C, XM_017009880.1:c.515T>C, XM_017009882.3:c.686T>C, XM_017009882.2:c.686T>C, XM_017009882.1:c.686T>C, XM_024446219.2:c.515T>C, XM_024446219.1:c.515T>C, XM_047417766.1:c.260T>C, XM_047417765.1:c.260T>C, XM_047417767.1:c.686T>C, XM_047417768.1:c.686T>C, XM_047417769.1:c.686T>C, XM_047417770.1:c.686T>C, XP_005248433.1:p.Leu229Pro, XP_005248434.1:p.Leu229Pro, XP_005248435.1:p.Leu229Pro, XP_011512437.1:p.Leu229Pro, XP_011512439.1:p.Leu229Pro, XP_011512440.1:p.Leu229Pro, XP_011512441.1:p.Leu229Pro, XP_011512438.1:p.Leu229Pro, NP_079143.3:p.Leu229Pro, NP_653323.1:p.Leu229Pro, XP_011512442.1:p.Leu172Pro, XP_016865369.1:p.Leu172Pro, XP_016865371.1:p.Leu229Pro, XP_024301987.1:p.Leu172Pro, XP_047273722.1:p.Leu87Pro, XP_047273721.1:p.Leu87Pro, XP_047273723.1:p.Leu229Pro, XP_047273724.1:p.Leu229Pro, XP_047273725.1:p.Leu229Pro, XP_047273726.1:p.Leu229Pro

                                  17.

                                  rs1484204580 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    5:35654649 (GRCh38)
                                    5:35654751 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:35654648:G:T
                                    Gene:
                                    SPEF2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.35654649G>T, NC_000005.9:g.35654751G>T, XM_005248376.5:c.901G>T, XM_005248376.4:c.901G>T, XM_005248376.3:c.901G>T, XM_005248376.2:c.901G>T, XM_005248376.1:c.901G>T, XM_005248377.5:c.901G>T, XM_005248377.4:c.901G>T, XM_005248377.3:c.901G>T, XM_005248377.2:c.901G>T, XM_005248377.1:c.901G>T, XM_005248378.5:c.901G>T, XM_005248378.4:c.901G>T, XM_005248378.3:c.901G>T, XM_005248378.2:c.901G>T, XM_005248378.1:c.901G>T, XM_011514135.4:c.901G>T, XM_011514135.3:c.901G>T, XM_011514135.2:c.901G>T, XM_011514135.1:c.901G>T, XM_011514137.4:c.901G>T, XM_011514137.3:c.901G>T, XM_011514137.2:c.901G>T, XM_011514137.1:c.901G>T, XM_011514138.4:c.901G>T, XM_011514138.3:c.901G>T, XM_011514138.2:c.901G>T, XM_011514138.1:c.901G>T, XM_011514139.4:c.901G>T, XM_011514139.3:c.901G>T, XM_011514139.2:c.901G>T, XM_011514139.1:c.901G>T, XM_011514136.4:c.901G>T, XM_011514136.3:c.901G>T, XM_011514136.2:c.901G>T, XM_011514136.1:c.901G>T, NM_024867.4:c.901G>T, NM_024867.3:c.901G>T, NM_144722.4:c.901G>T, NM_144722.3:c.901G>T, XR_925655.3:n.1036G>T, XR_925655.2:n.1004G>T, XR_925655.1:n.1117G>T, XM_011514140.3:c.730G>T, XM_011514140.2:c.730G>T, XM_011514140.1:c.730G>T, XM_017009880.3:c.730G>T, XM_017009880.2:c.730G>T, XM_017009880.1:c.730G>T, XM_017009882.3:c.901G>T, XM_017009882.2:c.901G>T, XM_017009882.1:c.901G>T, XM_024446219.2:c.730G>T, XM_024446219.1:c.730G>T, XM_047417766.1:c.475G>T, XM_047417765.1:c.475G>T, XM_047417767.1:c.901G>T, XM_047417768.1:c.901G>T, XM_047417769.1:c.901G>T, XM_047417770.1:c.901G>T, XP_005248433.1:p.Ala301Ser, XP_005248434.1:p.Ala301Ser, XP_005248435.1:p.Ala301Ser, XP_011512437.1:p.Ala301Ser, XP_011512439.1:p.Ala301Ser, XP_011512440.1:p.Ala301Ser, XP_011512441.1:p.Ala301Ser, XP_011512438.1:p.Ala301Ser, NP_079143.3:p.Ala301Ser, NP_653323.1:p.Ala301Ser, XP_011512442.1:p.Ala244Ser, XP_016865369.1:p.Ala244Ser, XP_016865371.1:p.Ala301Ser, XP_024301987.1:p.Ala244Ser, XP_047273722.1:p.Ala159Ser, XP_047273721.1:p.Ala159Ser, XP_047273723.1:p.Ala301Ser, XP_047273724.1:p.Ala301Ser, XP_047273725.1:p.Ala301Ser, XP_047273726.1:p.Ala301Ser

                                    18.

                                    rs1484010548 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:35789575 (GRCh38)
                                      5:35789677 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:35789574:T:C
                                      Gene:
                                      SPEF2 (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.35789575T>C, NC_000005.9:g.35789677T>C, NG_083671.1:g.1052T>C, XM_011514135.4:c.4830T>C, XM_011514135.3:c.4830T>C, XM_011514135.2:c.4830T>C, XM_011514135.1:c.4830T>C, XM_011514137.4:c.4815T>C, XM_011514137.3:c.4815T>C, XM_011514137.2:c.4815T>C, XM_011514137.1:c.4815T>C, XM_011514138.4:c.4806T>C, XM_011514138.3:c.4806T>C, XM_011514138.2:c.4806T>C, XM_011514138.1:c.4806T>C, XM_011514139.4:c.4755T>C, XM_011514139.3:c.4755T>C, XM_011514139.2:c.4755T>C, XM_011514139.1:c.4755T>C, XM_011514136.4:c.4830T>C, XM_011514136.3:c.4830T>C, XM_011514136.2:c.4830T>C, XM_011514136.1:c.4830T>C, XR_925655.3:n.4965T>C, XR_925655.2:n.4933T>C, XR_925655.1:n.5046T>C, XM_011514140.3:c.4659T>C, XM_011514140.2:c.4659T>C, XM_011514140.1:c.4659T>C, XM_017009880.3:c.4644T>C, XM_017009880.2:c.4644T>C, XM_017009880.1:c.4644T>C, XM_047417766.1:c.4404T>C, XM_047417765.1:c.4404T>C

                                      19.

                                      rs1483883805 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        5:35807718 (GRCh38)
                                        5:35807820 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:35807717:G:A
                                        Gene:
                                        SPEF2 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.35807718G>A, NC_000005.9:g.35807820G>A, XM_005248376.5:c.5459G>A, XM_005248376.4:c.5459G>A, XM_005248376.3:c.5459G>A, XM_005248376.2:c.5459G>A, XM_005248376.1:c.5459G>A, XM_005248377.5:c.5444G>A, XM_005248377.4:c.5444G>A, XM_005248377.3:c.5444G>A, XM_005248377.2:c.5444G>A, XM_005248377.1:c.5444G>A, XM_011514135.4:c.6281G>A, XM_011514135.3:c.6281G>A, XM_011514135.2:c.6281G>A, XM_011514135.1:c.6281G>A, XM_011514137.4:c.6266G>A, XM_011514137.3:c.6266G>A, XM_011514137.2:c.6266G>A, XM_011514137.1:c.6266G>A, XM_011514138.4:c.6257G>A, XM_011514138.3:c.6257G>A, XM_011514138.2:c.6257G>A, XM_011514138.1:c.6257G>A, XM_011514139.4:c.6206G>A, XM_011514139.3:c.6206G>A, XM_011514139.2:c.6206G>A, XM_011514139.1:c.6206G>A, XM_011514140.3:c.6110G>A, XM_011514140.2:c.6110G>A, XM_011514140.1:c.6110G>A, XM_017009880.3:c.6095G>A, XM_017009880.2:c.6095G>A, XM_017009880.1:c.6095G>A, XM_047417766.1:c.5855G>A, XM_047417765.1:c.5855G>A, XP_005248433.1:p.Arg1820Lys, XP_005248434.1:p.Arg1815Lys, XP_011512437.1:p.Arg2094Lys, XP_011512439.1:p.Arg2089Lys, XP_011512440.1:p.Arg2086Lys, XP_011512441.1:p.Arg2069Lys, XP_011512442.1:p.Arg2037Lys, XP_016865369.1:p.Arg2032Lys, XP_047273722.1:p.Arg1952Lys, XP_047273721.1:p.Arg1952Lys

                                        20.

                                        rs1483505475 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          5:35789882 (GRCh38)
                                          5:35789984 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:35789881:T:A
                                          Gene:
                                          SPEF2 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000005.10:g.35789882T>A, NC_000005.9:g.35789984T>A, NG_083671.1:g.1359T>A, XM_011514135.4:c.5042T>A, XM_011514135.3:c.5042T>A, XM_011514135.2:c.5042T>A, XM_011514135.1:c.5042T>A, XM_011514137.4:c.5027T>A, XM_011514137.3:c.5027T>A, XM_011514137.2:c.5027T>A, XM_011514137.1:c.5027T>A, XM_011514138.4:c.5018T>A, XM_011514138.3:c.5018T>A, XM_011514138.2:c.5018T>A, XM_011514138.1:c.5018T>A, XM_011514139.4:c.4967T>A, XM_011514139.3:c.4967T>A, XM_011514139.2:c.4967T>A, XM_011514139.1:c.4967T>A, XM_011514136.4:c.5042T>A, XM_011514136.3:c.5042T>A, XM_011514136.2:c.5042T>A, XM_011514136.1:c.5042T>A, XR_925655.3:n.5177T>A, XR_925655.2:n.5145T>A, XR_925655.1:n.5258T>A, XM_011514140.3:c.4871T>A, XM_011514140.2:c.4871T>A, XM_011514140.1:c.4871T>A, XM_017009880.3:c.4856T>A, XM_017009880.2:c.4856T>A, XM_017009880.1:c.4856T>A, XM_047417766.1:c.4616T>A, XM_047417765.1:c.4616T>A, XP_011512437.1:p.Val1681Glu, XP_011512439.1:p.Val1676Glu, XP_011512440.1:p.Val1673Glu, XP_011512441.1:p.Val1656Glu, XP_011512438.1:p.Val1681Glu, XP_011512442.1:p.Val1624Glu, XP_016865369.1:p.Val1619Glu, XP_047273722.1:p.Val1539Glu, XP_047273721.1:p.Val1539Glu

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