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Items: 1 to 20 of 537

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1486507287 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:35644400 (GRCh38)
            5:35644502 (GRCh37)
            Canonical SPDI:
            NC_000005.10:35644399:C:T
            Gene:
            SPEF2 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0./0 (Korea1K)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000005.10:g.35644400C>T, NC_000005.9:g.35644502C>T, XM_005248376.5:c.460C>T, XM_005248376.4:c.460C>T, XM_005248376.3:c.460C>T, XM_005248376.2:c.460C>T, XM_005248376.1:c.460C>T, XM_005248377.5:c.460C>T, XM_005248377.4:c.460C>T, XM_005248377.3:c.460C>T, XM_005248377.2:c.460C>T, XM_005248377.1:c.460C>T, XM_005248378.5:c.460C>T, XM_005248378.4:c.460C>T, XM_005248378.3:c.460C>T, XM_005248378.2:c.460C>T, XM_005248378.1:c.460C>T, XM_011514135.4:c.460C>T, XM_011514135.3:c.460C>T, XM_011514135.2:c.460C>T, XM_011514135.1:c.460C>T, XM_011514137.4:c.460C>T, XM_011514137.3:c.460C>T, XM_011514137.2:c.460C>T, XM_011514137.1:c.460C>T, XM_011514138.4:c.460C>T, XM_011514138.3:c.460C>T, XM_011514138.2:c.460C>T, XM_011514138.1:c.460C>T, XM_011514139.4:c.460C>T, XM_011514139.3:c.460C>T, XM_011514139.2:c.460C>T, XM_011514139.1:c.460C>T, XM_011514136.4:c.460C>T, XM_011514136.3:c.460C>T, XM_011514136.2:c.460C>T, XM_011514136.1:c.460C>T, NM_024867.4:c.460C>T, NM_024867.3:c.460C>T, NM_144722.4:c.460C>T, NM_144722.3:c.460C>T, XR_925655.3:n.595C>T, XR_925655.2:n.563C>T, XR_925655.1:n.676C>T, XM_017009882.3:c.460C>T, XM_017009882.2:c.460C>T, XM_017009882.1:c.460C>T, XM_047417766.1:c.34C>T, XM_047417765.1:c.34C>T, XM_047417767.1:c.460C>T, XM_047417768.1:c.460C>T, XM_047417769.1:c.460C>T, XM_047417770.1:c.460C>T, XP_005248433.1:p.Arg154Trp, XP_005248434.1:p.Arg154Trp, XP_005248435.1:p.Arg154Trp, XP_011512437.1:p.Arg154Trp, XP_011512439.1:p.Arg154Trp, XP_011512440.1:p.Arg154Trp, XP_011512441.1:p.Arg154Trp, XP_011512438.1:p.Arg154Trp, NP_079143.3:p.Arg154Trp, NP_653323.1:p.Arg154Trp, XP_016865371.1:p.Arg154Trp, XP_047273722.1:p.Arg12Trp, XP_047273721.1:p.Arg12Trp, XP_047273723.1:p.Arg154Trp, XP_047273724.1:p.Arg154Trp, XP_047273725.1:p.Arg154Trp, XP_047273726.1:p.Arg154Trp

            6.

            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

              7.

              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

                8.

                rs1482909574 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  5:35641592 (GRCh38)
                  5:35641694 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:35641591:A:C
                  Gene:
                  SPEF2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000071/1 (TOMMO)
                  C=0.000546/1 (Korea1K)
                  HGVS:
                  NC_000005.10:g.35641592A>C, NC_000005.9:g.35641694A>C, XM_005248376.5:c.323A>C, XM_005248376.4:c.323A>C, XM_005248376.3:c.323A>C, XM_005248376.2:c.323A>C, XM_005248376.1:c.323A>C, XM_005248377.5:c.323A>C, XM_005248377.4:c.323A>C, XM_005248377.3:c.323A>C, XM_005248377.2:c.323A>C, XM_005248377.1:c.323A>C, XM_005248378.5:c.323A>C, XM_005248378.4:c.323A>C, XM_005248378.3:c.323A>C, XM_005248378.2:c.323A>C, XM_005248378.1:c.323A>C, XM_011514135.4:c.323A>C, XM_011514135.3:c.323A>C, XM_011514135.2:c.323A>C, XM_011514135.1:c.323A>C, XM_011514137.4:c.323A>C, XM_011514137.3:c.323A>C, XM_011514137.2:c.323A>C, XM_011514137.1:c.323A>C, XM_011514138.4:c.323A>C, XM_011514138.3:c.323A>C, XM_011514138.2:c.323A>C, XM_011514138.1:c.323A>C, XM_011514139.4:c.323A>C, XM_011514139.3:c.323A>C, XM_011514139.2:c.323A>C, XM_011514139.1:c.323A>C, XM_011514136.4:c.323A>C, XM_011514136.3:c.323A>C, XM_011514136.2:c.323A>C, XM_011514136.1:c.323A>C, NM_024867.4:c.323A>C, NM_024867.3:c.323A>C, NM_144722.4:c.323A>C, NM_144722.3:c.323A>C, XR_925655.3:n.458A>C, XR_925655.2:n.426A>C, XR_925655.1:n.539A>C, XM_011514140.3:c.323A>C, XM_011514140.2:c.323A>C, XM_011514140.1:c.323A>C, XM_017009880.3:c.323A>C, XM_017009880.2:c.323A>C, XM_017009880.1:c.323A>C, XM_017009882.3:c.323A>C, XM_017009882.2:c.323A>C, XM_017009882.1:c.323A>C, XM_024446219.2:c.323A>C, XM_024446219.1:c.323A>C, XM_047417767.1:c.323A>C, XM_047417768.1:c.323A>C, XM_047417769.1:c.323A>C, XM_047417770.1:c.323A>C, XP_005248433.1:p.Lys108Thr, XP_005248434.1:p.Lys108Thr, XP_005248435.1:p.Lys108Thr, XP_011512437.1:p.Lys108Thr, XP_011512439.1:p.Lys108Thr, XP_011512440.1:p.Lys108Thr, XP_011512441.1:p.Lys108Thr, XP_011512438.1:p.Lys108Thr, NP_079143.3:p.Lys108Thr, NP_653323.1:p.Lys108Thr, XP_011512442.1:p.Lys108Thr, XP_016865369.1:p.Lys108Thr, XP_016865371.1:p.Lys108Thr, XP_024301987.1:p.Lys108Thr, XP_047273723.1:p.Lys108Thr, XP_047273724.1:p.Lys108Thr, XP_047273725.1:p.Lys108Thr, XP_047273726.1:p.Lys108Thr

                  9.

                  rs1481932653 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    5:35667205 (GRCh38)
                    5:35667307 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:35667204:A:C
                    Gene:
                    SPEF2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000005.10:g.35667205A>C, NC_000005.9:g.35667307A>C, XM_005248376.5:c.1301A>C, XM_005248376.4:c.1301A>C, XM_005248376.3:c.1301A>C, XM_005248376.2:c.1301A>C, XM_005248376.1:c.1301A>C, XM_005248377.5:c.1301A>C, XM_005248377.4:c.1301A>C, XM_005248377.3:c.1301A>C, XM_005248377.2:c.1301A>C, XM_005248377.1:c.1301A>C, XM_005248378.5:c.1301A>C, XM_005248378.4:c.1301A>C, XM_005248378.3:c.1301A>C, XM_005248378.2:c.1301A>C, XM_005248378.1:c.1301A>C, XM_011514135.4:c.1301A>C, XM_011514135.3:c.1301A>C, XM_011514135.2:c.1301A>C, XM_011514135.1:c.1301A>C, XM_011514137.4:c.1301A>C, XM_011514137.3:c.1301A>C, XM_011514137.2:c.1301A>C, XM_011514137.1:c.1301A>C, XM_011514138.4:c.1301A>C, XM_011514138.3:c.1301A>C, XM_011514138.2:c.1301A>C, XM_011514138.1:c.1301A>C, XM_011514139.4:c.1301A>C, XM_011514139.3:c.1301A>C, XM_011514139.2:c.1301A>C, XM_011514139.1:c.1301A>C, XM_011514136.4:c.1301A>C, XM_011514136.3:c.1301A>C, XM_011514136.2:c.1301A>C, XM_011514136.1:c.1301A>C, NM_024867.4:c.1301A>C, NM_024867.3:c.1301A>C, NM_144722.4:c.1301A>C, NM_144722.3:c.1301A>C, XR_925655.3:n.1436A>C, XR_925655.2:n.1404A>C, XR_925655.1:n.1517A>C, XM_011514140.3:c.1130A>C, XM_011514140.2:c.1130A>C, XM_011514140.1:c.1130A>C, XM_017009880.3:c.1130A>C, XM_017009880.2:c.1130A>C, XM_017009880.1:c.1130A>C, XM_017009882.3:c.1301A>C, XM_017009882.2:c.1301A>C, XM_017009882.1:c.1301A>C, XM_024446219.2:c.1130A>C, XM_024446219.1:c.1130A>C, XM_047417766.1:c.875A>C, XM_047417765.1:c.875A>C, XM_047417767.1:c.1301A>C, XM_047417768.1:c.1301A>C, XM_047417769.1:c.1301A>C, XM_047417770.1:c.1301A>C, XP_005248433.1:p.Asp434Ala, XP_005248434.1:p.Asp434Ala, XP_005248435.1:p.Asp434Ala, XP_011512437.1:p.Asp434Ala, XP_011512439.1:p.Asp434Ala, XP_011512440.1:p.Asp434Ala, XP_011512441.1:p.Asp434Ala, XP_011512438.1:p.Asp434Ala, NP_079143.3:p.Asp434Ala, NP_653323.1:p.Asp434Ala, XP_011512442.1:p.Asp377Ala, XP_016865369.1:p.Asp377Ala, XP_016865371.1:p.Asp434Ala, XP_024301987.1:p.Asp377Ala, XP_047273722.1:p.Asp292Ala, XP_047273721.1:p.Asp292Ala, XP_047273723.1:p.Asp434Ala, XP_047273724.1:p.Asp434Ala, XP_047273725.1:p.Asp434Ala, XP_047273726.1:p.Asp434Ala

                    10.

                    rs1476782605 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:35659096 (GRCh38)
                      5:35659198 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:35659095:C:T
                      Gene:
                      SPEF2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      NC_000005.10:g.35659096C>T, NC_000005.9:g.35659198C>T, XM_005248376.5:c.1056C>T, XM_005248376.4:c.1056C>T, XM_005248376.3:c.1056C>T, XM_005248376.2:c.1056C>T, XM_005248376.1:c.1056C>T, XM_005248377.5:c.1056C>T, XM_005248377.4:c.1056C>T, XM_005248377.3:c.1056C>T, XM_005248377.2:c.1056C>T, XM_005248377.1:c.1056C>T, XM_005248378.5:c.1056C>T, XM_005248378.4:c.1056C>T, XM_005248378.3:c.1056C>T, XM_005248378.2:c.1056C>T, XM_005248378.1:c.1056C>T, XM_011514135.4:c.1056C>T, XM_011514135.3:c.1056C>T, XM_011514135.2:c.1056C>T, XM_011514135.1:c.1056C>T, XM_011514137.4:c.1056C>T, XM_011514137.3:c.1056C>T, XM_011514137.2:c.1056C>T, XM_011514137.1:c.1056C>T, XM_011514138.4:c.1056C>T, XM_011514138.3:c.1056C>T, XM_011514138.2:c.1056C>T, XM_011514138.1:c.1056C>T, XM_011514139.4:c.1056C>T, XM_011514139.3:c.1056C>T, XM_011514139.2:c.1056C>T, XM_011514139.1:c.1056C>T, XM_011514136.4:c.1056C>T, XM_011514136.3:c.1056C>T, XM_011514136.2:c.1056C>T, XM_011514136.1:c.1056C>T, NM_024867.4:c.1056C>T, NM_024867.3:c.1056C>T, NM_144722.4:c.1056C>T, NM_144722.3:c.1056C>T, XR_925655.3:n.1191C>T, XR_925655.2:n.1159C>T, XR_925655.1:n.1272C>T, XM_011514140.3:c.885C>T, XM_011514140.2:c.885C>T, XM_011514140.1:c.885C>T, XM_017009880.3:c.885C>T, XM_017009880.2:c.885C>T, XM_017009880.1:c.885C>T, XM_017009882.3:c.1056C>T, XM_017009882.2:c.1056C>T, XM_017009882.1:c.1056C>T, XM_024446219.2:c.885C>T, XM_024446219.1:c.885C>T, XM_047417766.1:c.630C>T, XM_047417765.1:c.630C>T, XM_047417767.1:c.1056C>T, XM_047417768.1:c.1056C>T, XM_047417769.1:c.1056C>T, XM_047417770.1:c.1056C>T

                      11.

                      rs1475721240 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        5:35641468 (GRCh38)
                        5:35641570 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:35641467:G:T
                        Gene:
                        SPEF2 (Varview)
                        Functional Consequence:
                        stop_gained,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                        HGVS:
                        NC_000005.10:g.35641468G>T, NC_000005.9:g.35641570G>T, XM_005248376.5:c.199G>T, XM_005248376.4:c.199G>T, XM_005248376.3:c.199G>T, XM_005248376.2:c.199G>T, XM_005248376.1:c.199G>T, XM_005248377.5:c.199G>T, XM_005248377.4:c.199G>T, XM_005248377.3:c.199G>T, XM_005248377.2:c.199G>T, XM_005248377.1:c.199G>T, XM_005248378.5:c.199G>T, XM_005248378.4:c.199G>T, XM_005248378.3:c.199G>T, XM_005248378.2:c.199G>T, XM_005248378.1:c.199G>T, XM_011514135.4:c.199G>T, XM_011514135.3:c.199G>T, XM_011514135.2:c.199G>T, XM_011514135.1:c.199G>T, XM_011514137.4:c.199G>T, XM_011514137.3:c.199G>T, XM_011514137.2:c.199G>T, XM_011514137.1:c.199G>T, XM_011514138.4:c.199G>T, XM_011514138.3:c.199G>T, XM_011514138.2:c.199G>T, XM_011514138.1:c.199G>T, XM_011514139.4:c.199G>T, XM_011514139.3:c.199G>T, XM_011514139.2:c.199G>T, XM_011514139.1:c.199G>T, XM_011514136.4:c.199G>T, XM_011514136.3:c.199G>T, XM_011514136.2:c.199G>T, XM_011514136.1:c.199G>T, NM_024867.4:c.199G>T, NM_024867.3:c.199G>T, NM_144722.4:c.199G>T, NM_144722.3:c.199G>T, XR_925655.3:n.334G>T, XR_925655.2:n.302G>T, XR_925655.1:n.415G>T, XM_011514140.3:c.199G>T, XM_011514140.2:c.199G>T, XM_011514140.1:c.199G>T, XM_017009880.3:c.199G>T, XM_017009880.2:c.199G>T, XM_017009880.1:c.199G>T, XM_017009882.3:c.199G>T, XM_017009882.2:c.199G>T, XM_017009882.1:c.199G>T, XM_024446219.2:c.199G>T, XM_024446219.1:c.199G>T, XM_047417767.1:c.199G>T, XM_047417768.1:c.199G>T, XM_047417769.1:c.199G>T, XM_047417770.1:c.199G>T, XP_005248433.1:p.Glu67Ter, XP_005248434.1:p.Glu67Ter, XP_005248435.1:p.Glu67Ter, XP_011512437.1:p.Glu67Ter, XP_011512439.1:p.Glu67Ter, XP_011512440.1:p.Glu67Ter, XP_011512441.1:p.Glu67Ter, XP_011512438.1:p.Glu67Ter, NP_079143.3:p.Glu67Ter, NP_653323.1:p.Glu67Ter, XP_011512442.1:p.Glu67Ter, XP_016865369.1:p.Glu67Ter, XP_016865371.1:p.Glu67Ter, XP_024301987.1:p.Glu67Ter, XP_047273723.1:p.Glu67Ter, XP_047273724.1:p.Glu67Ter, XP_047273725.1:p.Glu67Ter, XP_047273726.1:p.Glu67Ter

                        12.

                        rs1474946056 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          5:35649415 (GRCh38)
                          5:35649517 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:35649414:G:A,NC_000005.10:35649414:G:C
                          Gene:
                          SPEF2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000041/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000008/2 (GnomAD_exomes)
                          C=0.000223/1 (Estonian)
                          HGVS:
                          NC_000005.10:g.35649415G>A, NC_000005.10:g.35649415G>C, NC_000005.9:g.35649517G>A, NC_000005.9:g.35649517G>C, XM_005248376.5:c.781G>A, XM_005248376.5:c.781G>C, XM_005248376.4:c.781G>A, XM_005248376.4:c.781G>C, XM_005248376.3:c.781G>A, XM_005248376.3:c.781G>C, XM_005248376.2:c.781G>A, XM_005248376.2:c.781G>C, XM_005248376.1:c.781G>A, XM_005248376.1:c.781G>C, XM_005248377.5:c.781G>A, XM_005248377.5:c.781G>C, XM_005248377.4:c.781G>A, XM_005248377.4:c.781G>C, XM_005248377.3:c.781G>A, XM_005248377.3:c.781G>C, XM_005248377.2:c.781G>A, XM_005248377.2:c.781G>C, XM_005248377.1:c.781G>A, XM_005248377.1:c.781G>C, XM_005248378.5:c.781G>A, XM_005248378.5:c.781G>C, XM_005248378.4:c.781G>A, XM_005248378.4:c.781G>C, XM_005248378.3:c.781G>A, XM_005248378.3:c.781G>C, XM_005248378.2:c.781G>A, XM_005248378.2:c.781G>C, XM_005248378.1:c.781G>A, XM_005248378.1:c.781G>C, XM_011514135.4:c.781G>A, XM_011514135.4:c.781G>C, XM_011514135.3:c.781G>A, XM_011514135.3:c.781G>C, XM_011514135.2:c.781G>A, XM_011514135.2:c.781G>C, XM_011514135.1:c.781G>A, XM_011514135.1:c.781G>C, XM_011514137.4:c.781G>A, XM_011514137.4:c.781G>C, XM_011514137.3:c.781G>A, XM_011514137.3:c.781G>C, XM_011514137.2:c.781G>A, XM_011514137.2:c.781G>C, XM_011514137.1:c.781G>A, XM_011514137.1:c.781G>C, XM_011514138.4:c.781G>A, XM_011514138.4:c.781G>C, XM_011514138.3:c.781G>A, XM_011514138.3:c.781G>C, XM_011514138.2:c.781G>A, XM_011514138.2:c.781G>C, XM_011514138.1:c.781G>A, XM_011514138.1:c.781G>C, XM_011514139.4:c.781G>A, XM_011514139.4:c.781G>C, XM_011514139.3:c.781G>A, XM_011514139.3:c.781G>C, XM_011514139.2:c.781G>A, XM_011514139.2:c.781G>C, XM_011514139.1:c.781G>A, XM_011514139.1:c.781G>C, XM_011514136.4:c.781G>A, XM_011514136.4:c.781G>C, XM_011514136.3:c.781G>A, XM_011514136.3:c.781G>C, XM_011514136.2:c.781G>A, XM_011514136.2:c.781G>C, XM_011514136.1:c.781G>A, XM_011514136.1:c.781G>C, NM_024867.4:c.781G>A, NM_024867.4:c.781G>C, NM_024867.3:c.781G>A, NM_024867.3:c.781G>C, NM_144722.4:c.781G>A, NM_144722.4:c.781G>C, NM_144722.3:c.781G>A, NM_144722.3:c.781G>C, XR_925655.3:n.916G>A, XR_925655.3:n.916G>C, XR_925655.2:n.884G>A, XR_925655.2:n.884G>C, XR_925655.1:n.997G>A, XR_925655.1:n.997G>C, XM_011514140.3:c.610G>A, XM_011514140.3:c.610G>C, XM_011514140.2:c.610G>A, XM_011514140.2:c.610G>C, XM_011514140.1:c.610G>A, XM_011514140.1:c.610G>C, XM_017009880.3:c.610G>A, XM_017009880.3:c.610G>C, XM_017009880.2:c.610G>A, XM_017009880.2:c.610G>C, XM_017009880.1:c.610G>A, XM_017009880.1:c.610G>C, XM_017009882.3:c.781G>A, XM_017009882.3:c.781G>C, XM_017009882.2:c.781G>A, XM_017009882.2:c.781G>C, XM_017009882.1:c.781G>A, XM_017009882.1:c.781G>C, XM_024446219.2:c.610G>A, XM_024446219.2:c.610G>C, XM_024446219.1:c.610G>A, XM_024446219.1:c.610G>C, XM_047417766.1:c.355G>A, XM_047417766.1:c.355G>C, XM_047417765.1:c.355G>A, XM_047417765.1:c.355G>C, XM_047417767.1:c.781G>A, XM_047417767.1:c.781G>C, XM_047417768.1:c.781G>A, XM_047417768.1:c.781G>C, XM_047417769.1:c.781G>A, XM_047417769.1:c.781G>C, XM_047417770.1:c.781G>A, XM_047417770.1:c.781G>C, XP_005248433.1:p.Ala261Thr, XP_005248433.1:p.Ala261Pro, XP_005248434.1:p.Ala261Thr, XP_005248434.1:p.Ala261Pro, XP_005248435.1:p.Ala261Thr, XP_005248435.1:p.Ala261Pro, XP_011512437.1:p.Ala261Thr, XP_011512437.1:p.Ala261Pro, XP_011512439.1:p.Ala261Thr, XP_011512439.1:p.Ala261Pro, XP_011512440.1:p.Ala261Thr, XP_011512440.1:p.Ala261Pro, XP_011512441.1:p.Ala261Thr, XP_011512441.1:p.Ala261Pro, XP_011512438.1:p.Ala261Thr, XP_011512438.1:p.Ala261Pro, NP_079143.3:p.Ala261Thr, NP_079143.3:p.Ala261Pro, NP_653323.1:p.Ala261Thr, NP_653323.1:p.Ala261Pro, XP_011512442.1:p.Ala204Thr, XP_011512442.1:p.Ala204Pro, XP_016865369.1:p.Ala204Thr, XP_016865369.1:p.Ala204Pro, XP_016865371.1:p.Ala261Thr, XP_016865371.1:p.Ala261Pro, XP_024301987.1:p.Ala204Thr, XP_024301987.1:p.Ala204Pro, XP_047273722.1:p.Ala119Thr, XP_047273722.1:p.Ala119Pro, XP_047273721.1:p.Ala119Thr, XP_047273721.1:p.Ala119Pro, XP_047273723.1:p.Ala261Thr, XP_047273723.1:p.Ala261Pro, XP_047273724.1:p.Ala261Thr, XP_047273724.1:p.Ala261Pro, XP_047273725.1:p.Ala261Thr, XP_047273725.1:p.Ala261Pro, XP_047273726.1:p.Ala261Thr, XP_047273726.1:p.Ala261Pro

                          13.

                          rs1474146549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            5:35667191 (GRCh38)
                            5:35667293 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:35667190:T:G
                            Gene:
                            SPEF2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.35667191T>G, NC_000005.9:g.35667293T>G, XM_005248376.5:c.1287T>G, XM_005248376.4:c.1287T>G, XM_005248376.3:c.1287T>G, XM_005248376.2:c.1287T>G, XM_005248376.1:c.1287T>G, XM_005248377.5:c.1287T>G, XM_005248377.4:c.1287T>G, XM_005248377.3:c.1287T>G, XM_005248377.2:c.1287T>G, XM_005248377.1:c.1287T>G, XM_005248378.5:c.1287T>G, XM_005248378.4:c.1287T>G, XM_005248378.3:c.1287T>G, XM_005248378.2:c.1287T>G, XM_005248378.1:c.1287T>G, XM_011514135.4:c.1287T>G, XM_011514135.3:c.1287T>G, XM_011514135.2:c.1287T>G, XM_011514135.1:c.1287T>G, XM_011514137.4:c.1287T>G, XM_011514137.3:c.1287T>G, XM_011514137.2:c.1287T>G, XM_011514137.1:c.1287T>G, XM_011514138.4:c.1287T>G, XM_011514138.3:c.1287T>G, XM_011514138.2:c.1287T>G, XM_011514138.1:c.1287T>G, XM_011514139.4:c.1287T>G, XM_011514139.3:c.1287T>G, XM_011514139.2:c.1287T>G, XM_011514139.1:c.1287T>G, XM_011514136.4:c.1287T>G, XM_011514136.3:c.1287T>G, XM_011514136.2:c.1287T>G, XM_011514136.1:c.1287T>G, NM_024867.4:c.1287T>G, NM_024867.3:c.1287T>G, NM_144722.4:c.1287T>G, NM_144722.3:c.1287T>G, XR_925655.3:n.1422T>G, XR_925655.2:n.1390T>G, XR_925655.1:n.1503T>G, XM_011514140.3:c.1116T>G, XM_011514140.2:c.1116T>G, XM_011514140.1:c.1116T>G, XM_017009880.3:c.1116T>G, XM_017009880.2:c.1116T>G, XM_017009880.1:c.1116T>G, XM_017009882.3:c.1287T>G, XM_017009882.2:c.1287T>G, XM_017009882.1:c.1287T>G, XM_024446219.2:c.1116T>G, XM_024446219.1:c.1116T>G, XM_047417766.1:c.861T>G, XM_047417765.1:c.861T>G, XM_047417767.1:c.1287T>G, XM_047417768.1:c.1287T>G, XM_047417769.1:c.1287T>G, XM_047417770.1:c.1287T>G, XP_005248433.1:p.Cys429Trp, XP_005248434.1:p.Cys429Trp, XP_005248435.1:p.Cys429Trp, XP_011512437.1:p.Cys429Trp, XP_011512439.1:p.Cys429Trp, XP_011512440.1:p.Cys429Trp, XP_011512441.1:p.Cys429Trp, XP_011512438.1:p.Cys429Trp, NP_079143.3:p.Cys429Trp, NP_653323.1:p.Cys429Trp, XP_011512442.1:p.Cys372Trp, XP_016865369.1:p.Cys372Trp, XP_016865371.1:p.Cys429Trp, XP_024301987.1:p.Cys372Trp, XP_047273722.1:p.Cys287Trp, XP_047273721.1:p.Cys287Trp, XP_047273723.1:p.Cys429Trp, XP_047273724.1:p.Cys429Trp, XP_047273725.1:p.Cys429Trp, XP_047273726.1:p.Cys429Trp

                            14.

                            rs1473916155 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->TGT [Show Flanks]
                              Chromosome:
                              5:35667218 (GRCh38)
                              5:35667321 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:35667218:TTGT:TTGTTGT
                              Gene:
                              SPEF2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,inframe_insertion,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              TTG=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.35667220_35667222dup, NC_000005.9:g.35667322_35667324dup, XM_005248376.5:c.1316_1318dup, XM_005248376.4:c.1316_1318dup, XM_005248376.3:c.1316_1318dup, XM_005248376.2:c.1316_1318dup, XM_005248376.1:c.1316_1318dup, XM_005248377.5:c.1316_1318dup, XM_005248377.4:c.1316_1318dup, XM_005248377.3:c.1316_1318dup, XM_005248377.2:c.1316_1318dup, XM_005248377.1:c.1316_1318dup, XM_005248378.5:c.1316_1318dup, XM_005248378.4:c.1316_1318dup, XM_005248378.3:c.1316_1318dup, XM_005248378.2:c.1316_1318dup, XM_005248378.1:c.1316_1318dup, XM_011514135.4:c.1316_1318dup, XM_011514135.3:c.1316_1318dup, XM_011514135.2:c.1316_1318dup, XM_011514135.1:c.1316_1318dup, XM_011514137.4:c.1316_1318dup, XM_011514137.3:c.1316_1318dup, XM_011514137.2:c.1316_1318dup, XM_011514137.1:c.1316_1318dup, XM_011514138.4:c.1316_1318dup, XM_011514138.3:c.1316_1318dup, XM_011514138.2:c.1316_1318dup, XM_011514138.1:c.1316_1318dup, XM_011514139.4:c.1316_1318dup, XM_011514139.3:c.1316_1318dup, XM_011514139.2:c.1316_1318dup, XM_011514139.1:c.1316_1318dup, XM_011514136.4:c.1316_1318dup, XM_011514136.3:c.1316_1318dup, XM_011514136.2:c.1316_1318dup, XM_011514136.1:c.1316_1318dup, NM_024867.4:c.1316_1318dup, NM_024867.3:c.1316_1318dup, NM_144722.4:c.1316_1318dup, NM_144722.3:c.1316_1318dup, XR_925655.3:n.1451_1453dup, XR_925655.2:n.1419_1421dup, XR_925655.1:n.1532_1534dup, XM_011514140.3:c.1145_1147dup, XM_011514140.2:c.1145_1147dup, XM_011514140.1:c.1145_1147dup, XM_017009880.3:c.1145_1147dup, XM_017009880.2:c.1145_1147dup, XM_017009880.1:c.1145_1147dup, XM_017009882.3:c.1316_1318dup, XM_017009882.2:c.1316_1318dup, XM_017009882.1:c.1316_1318dup, XM_024446219.2:c.1145_1147dup, XM_024446219.1:c.1145_1147dup, XM_047417766.1:c.890_892dup, XM_047417765.1:c.890_892dup, XM_047417767.1:c.1316_1318dup, XM_047417768.1:c.1316_1318dup, XM_047417769.1:c.1316_1318dup, XM_047417770.1:c.1316_1318dup, XP_005248433.1:p.Leu439dup, XP_005248434.1:p.Leu439dup, XP_005248435.1:p.Leu439dup, XP_011512437.1:p.Leu439dup, XP_011512439.1:p.Leu439dup, XP_011512440.1:p.Leu439dup, XP_011512441.1:p.Leu439dup, XP_011512438.1:p.Leu439dup, NP_079143.3:p.Leu439dup, NP_653323.1:p.Leu439dup, XP_011512442.1:p.Leu382dup, XP_016865369.1:p.Leu382dup, XP_016865371.1:p.Leu439dup, XP_024301987.1:p.Leu382dup, XP_047273722.1:p.Leu297dup, XP_047273721.1:p.Leu297dup, XP_047273723.1:p.Leu439dup, XP_047273724.1:p.Leu439dup, XP_047273725.1:p.Leu439dup, XP_047273726.1:p.Leu439dup

                              15.

                              rs1472556385 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:35641539 (GRCh38)
                                5:35641641 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:35641538:T:C
                                Gene:
                                SPEF2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.35641539T>C, NC_000005.9:g.35641641T>C, XM_005248376.5:c.270T>C, XM_005248376.4:c.270T>C, XM_005248376.3:c.270T>C, XM_005248376.2:c.270T>C, XM_005248376.1:c.270T>C, XM_005248377.5:c.270T>C, XM_005248377.4:c.270T>C, XM_005248377.3:c.270T>C, XM_005248377.2:c.270T>C, XM_005248377.1:c.270T>C, XM_005248378.5:c.270T>C, XM_005248378.4:c.270T>C, XM_005248378.3:c.270T>C, XM_005248378.2:c.270T>C, XM_005248378.1:c.270T>C, XM_011514135.4:c.270T>C, XM_011514135.3:c.270T>C, XM_011514135.2:c.270T>C, XM_011514135.1:c.270T>C, XM_011514137.4:c.270T>C, XM_011514137.3:c.270T>C, XM_011514137.2:c.270T>C, XM_011514137.1:c.270T>C, XM_011514138.4:c.270T>C, XM_011514138.3:c.270T>C, XM_011514138.2:c.270T>C, XM_011514138.1:c.270T>C, XM_011514139.4:c.270T>C, XM_011514139.3:c.270T>C, XM_011514139.2:c.270T>C, XM_011514139.1:c.270T>C, XM_011514136.4:c.270T>C, XM_011514136.3:c.270T>C, XM_011514136.2:c.270T>C, XM_011514136.1:c.270T>C, NM_024867.4:c.270T>C, NM_024867.3:c.270T>C, NM_144722.4:c.270T>C, NM_144722.3:c.270T>C, XR_925655.3:n.405T>C, XR_925655.2:n.373T>C, XR_925655.1:n.486T>C, XM_011514140.3:c.270T>C, XM_011514140.2:c.270T>C, XM_011514140.1:c.270T>C, XM_017009880.3:c.270T>C, XM_017009880.2:c.270T>C, XM_017009880.1:c.270T>C, XM_017009882.3:c.270T>C, XM_017009882.2:c.270T>C, XM_017009882.1:c.270T>C, XM_024446219.2:c.270T>C, XM_024446219.1:c.270T>C, XM_047417767.1:c.270T>C, XM_047417768.1:c.270T>C, XM_047417769.1:c.270T>C, XM_047417770.1:c.270T>C

                                16.

                                rs1469596430 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:35659072 (GRCh38)
                                  5:35659174 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:35659071: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 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.35659072G>A, NC_000005.9:g.35659174G>A, XM_005248376.5:c.1032G>A, XM_005248376.4:c.1032G>A, XM_005248376.3:c.1032G>A, XM_005248376.2:c.1032G>A, XM_005248376.1:c.1032G>A, XM_005248377.5:c.1032G>A, XM_005248377.4:c.1032G>A, XM_005248377.3:c.1032G>A, XM_005248377.2:c.1032G>A, XM_005248377.1:c.1032G>A, XM_005248378.5:c.1032G>A, XM_005248378.4:c.1032G>A, XM_005248378.3:c.1032G>A, XM_005248378.2:c.1032G>A, XM_005248378.1:c.1032G>A, XM_011514135.4:c.1032G>A, XM_011514135.3:c.1032G>A, XM_011514135.2:c.1032G>A, XM_011514135.1:c.1032G>A, XM_011514137.4:c.1032G>A, XM_011514137.3:c.1032G>A, XM_011514137.2:c.1032G>A, XM_011514137.1:c.1032G>A, XM_011514138.4:c.1032G>A, XM_011514138.3:c.1032G>A, XM_011514138.2:c.1032G>A, XM_011514138.1:c.1032G>A, XM_011514139.4:c.1032G>A, XM_011514139.3:c.1032G>A, XM_011514139.2:c.1032G>A, XM_011514139.1:c.1032G>A, XM_011514136.4:c.1032G>A, XM_011514136.3:c.1032G>A, XM_011514136.2:c.1032G>A, XM_011514136.1:c.1032G>A, NM_024867.4:c.1032G>A, NM_024867.3:c.1032G>A, NM_144722.4:c.1032G>A, NM_144722.3:c.1032G>A, XR_925655.3:n.1167G>A, XR_925655.2:n.1135G>A, XR_925655.1:n.1248G>A, XM_011514140.3:c.861G>A, XM_011514140.2:c.861G>A, XM_011514140.1:c.861G>A, XM_017009880.3:c.861G>A, XM_017009880.2:c.861G>A, XM_017009880.1:c.861G>A, XM_017009882.3:c.1032G>A, XM_017009882.2:c.1032G>A, XM_017009882.1:c.1032G>A, XM_024446219.2:c.861G>A, XM_024446219.1:c.861G>A, XM_047417766.1:c.606G>A, XM_047417765.1:c.606G>A, XM_047417767.1:c.1032G>A, XM_047417768.1:c.1032G>A, XM_047417769.1:c.1032G>A, XM_047417770.1:c.1032G>A

                                  17.

                                  rs1468214839 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    5:35646779 (GRCh38)
                                    5:35646881 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:35646778:A:C,NC_000005.10:35646778:A:G
                                    Gene:
                                    SPEF2 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000005.10:g.35646779A>C, NC_000005.10:g.35646779A>G, NC_000005.9:g.35646881A>C, NC_000005.9:g.35646881A>G, XM_005248376.5:c.698A>C, XM_005248376.5:c.698A>G, XM_005248376.4:c.698A>C, XM_005248376.4:c.698A>G, XM_005248376.3:c.698A>C, XM_005248376.3:c.698A>G, XM_005248376.2:c.698A>C, XM_005248376.2:c.698A>G, XM_005248376.1:c.698A>C, XM_005248376.1:c.698A>G, XM_005248377.5:c.698A>C, XM_005248377.5:c.698A>G, XM_005248377.4:c.698A>C, XM_005248377.4:c.698A>G, XM_005248377.3:c.698A>C, XM_005248377.3:c.698A>G, XM_005248377.2:c.698A>C, XM_005248377.2:c.698A>G, XM_005248377.1:c.698A>C, XM_005248377.1:c.698A>G, XM_005248378.5:c.698A>C, XM_005248378.5:c.698A>G, XM_005248378.4:c.698A>C, XM_005248378.4:c.698A>G, XM_005248378.3:c.698A>C, XM_005248378.3:c.698A>G, XM_005248378.2:c.698A>C, XM_005248378.2:c.698A>G, XM_005248378.1:c.698A>C, XM_005248378.1:c.698A>G, XM_011514135.4:c.698A>C, XM_011514135.4:c.698A>G, XM_011514135.3:c.698A>C, XM_011514135.3:c.698A>G, XM_011514135.2:c.698A>C, XM_011514135.2:c.698A>G, XM_011514135.1:c.698A>C, XM_011514135.1:c.698A>G, XM_011514137.4:c.698A>C, XM_011514137.4:c.698A>G, XM_011514137.3:c.698A>C, XM_011514137.3:c.698A>G, XM_011514137.2:c.698A>C, XM_011514137.2:c.698A>G, XM_011514137.1:c.698A>C, XM_011514137.1:c.698A>G, XM_011514138.4:c.698A>C, XM_011514138.4:c.698A>G, XM_011514138.3:c.698A>C, XM_011514138.3:c.698A>G, XM_011514138.2:c.698A>C, XM_011514138.2:c.698A>G, XM_011514138.1:c.698A>C, XM_011514138.1:c.698A>G, XM_011514139.4:c.698A>C, XM_011514139.4:c.698A>G, XM_011514139.3:c.698A>C, XM_011514139.3:c.698A>G, XM_011514139.2:c.698A>C, XM_011514139.2:c.698A>G, XM_011514139.1:c.698A>C, XM_011514139.1:c.698A>G, XM_011514136.4:c.698A>C, XM_011514136.4:c.698A>G, XM_011514136.3:c.698A>C, XM_011514136.3:c.698A>G, XM_011514136.2:c.698A>C, XM_011514136.2:c.698A>G, XM_011514136.1:c.698A>C, XM_011514136.1:c.698A>G, NM_024867.4:c.698A>C, NM_024867.4:c.698A>G, NM_024867.3:c.698A>C, NM_024867.3:c.698A>G, NM_144722.4:c.698A>C, NM_144722.4:c.698A>G, NM_144722.3:c.698A>C, NM_144722.3:c.698A>G, XR_925655.3:n.833A>C, XR_925655.3:n.833A>G, XR_925655.2:n.801A>C, XR_925655.2:n.801A>G, XR_925655.1:n.914A>C, XR_925655.1:n.914A>G, XM_011514140.3:c.527A>C, XM_011514140.3:c.527A>G, XM_011514140.2:c.527A>C, XM_011514140.2:c.527A>G, XM_011514140.1:c.527A>C, XM_011514140.1:c.527A>G, XM_017009880.3:c.527A>C, XM_017009880.3:c.527A>G, XM_017009880.2:c.527A>C, XM_017009880.2:c.527A>G, XM_017009880.1:c.527A>C, XM_017009880.1:c.527A>G, XM_017009882.3:c.698A>C, XM_017009882.3:c.698A>G, XM_017009882.2:c.698A>C, XM_017009882.2:c.698A>G, XM_017009882.1:c.698A>C, XM_017009882.1:c.698A>G, XM_024446219.2:c.527A>C, XM_024446219.2:c.527A>G, XM_024446219.1:c.527A>C, XM_024446219.1:c.527A>G, XM_047417766.1:c.272A>C, XM_047417766.1:c.272A>G, XM_047417765.1:c.272A>C, XM_047417765.1:c.272A>G, XM_047417767.1:c.698A>C, XM_047417767.1:c.698A>G, XM_047417768.1:c.698A>C, XM_047417768.1:c.698A>G, XM_047417769.1:c.698A>C, XM_047417769.1:c.698A>G, XM_047417770.1:c.698A>C, XM_047417770.1:c.698A>G, XP_005248433.1:p.Lys233Thr, XP_005248433.1:p.Lys233Arg, XP_005248434.1:p.Lys233Thr, XP_005248434.1:p.Lys233Arg, XP_005248435.1:p.Lys233Thr, XP_005248435.1:p.Lys233Arg, XP_011512437.1:p.Lys233Thr, XP_011512437.1:p.Lys233Arg, XP_011512439.1:p.Lys233Thr, XP_011512439.1:p.Lys233Arg, XP_011512440.1:p.Lys233Thr, XP_011512440.1:p.Lys233Arg, XP_011512441.1:p.Lys233Thr, XP_011512441.1:p.Lys233Arg, XP_011512438.1:p.Lys233Thr, XP_011512438.1:p.Lys233Arg, NP_079143.3:p.Lys233Thr, NP_079143.3:p.Lys233Arg, NP_653323.1:p.Lys233Thr, NP_653323.1:p.Lys233Arg, XP_011512442.1:p.Lys176Thr, XP_011512442.1:p.Lys176Arg, XP_016865369.1:p.Lys176Thr, XP_016865369.1:p.Lys176Arg, XP_016865371.1:p.Lys233Thr, XP_016865371.1:p.Lys233Arg, XP_024301987.1:p.Lys176Thr, XP_024301987.1:p.Lys176Arg, XP_047273722.1:p.Lys91Thr, XP_047273722.1:p.Lys91Arg, XP_047273721.1:p.Lys91Thr, XP_047273721.1:p.Lys91Arg, XP_047273723.1:p.Lys233Thr, XP_047273723.1:p.Lys233Arg, XP_047273724.1:p.Lys233Thr, XP_047273724.1:p.Lys233Arg, XP_047273725.1:p.Lys233Thr, XP_047273725.1:p.Lys233Arg, XP_047273726.1:p.Lys233Thr, XP_047273726.1:p.Lys233Arg

                                    18.

                                    rs1466159711 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      5:35641613 (GRCh38)
                                      5:35641715 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:35641612:T:G
                                      Gene:
                                      SPEF2 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.35641613T>G, NC_000005.9:g.35641715T>G, XM_005248376.5:c.344T>G, XM_005248376.4:c.344T>G, XM_005248376.3:c.344T>G, XM_005248376.2:c.344T>G, XM_005248376.1:c.344T>G, XM_005248377.5:c.344T>G, XM_005248377.4:c.344T>G, XM_005248377.3:c.344T>G, XM_005248377.2:c.344T>G, XM_005248377.1:c.344T>G, XM_005248378.5:c.344T>G, XM_005248378.4:c.344T>G, XM_005248378.3:c.344T>G, XM_005248378.2:c.344T>G, XM_005248378.1:c.344T>G, XM_011514135.4:c.344T>G, XM_011514135.3:c.344T>G, XM_011514135.2:c.344T>G, XM_011514135.1:c.344T>G, XM_011514137.4:c.344T>G, XM_011514137.3:c.344T>G, XM_011514137.2:c.344T>G, XM_011514137.1:c.344T>G, XM_011514138.4:c.344T>G, XM_011514138.3:c.344T>G, XM_011514138.2:c.344T>G, XM_011514138.1:c.344T>G, XM_011514139.4:c.344T>G, XM_011514139.3:c.344T>G, XM_011514139.2:c.344T>G, XM_011514139.1:c.344T>G, XM_011514136.4:c.344T>G, XM_011514136.3:c.344T>G, XM_011514136.2:c.344T>G, XM_011514136.1:c.344T>G, NM_024867.4:c.344T>G, NM_024867.3:c.344T>G, NM_144722.4:c.344T>G, NM_144722.3:c.344T>G, XR_925655.3:n.479T>G, XR_925655.2:n.447T>G, XR_925655.1:n.560T>G, XM_011514140.3:c.344T>G, XM_011514140.2:c.344T>G, XM_011514140.1:c.344T>G, XM_017009880.3:c.344T>G, XM_017009880.2:c.344T>G, XM_017009880.1:c.344T>G, XM_017009882.3:c.344T>G, XM_017009882.2:c.344T>G, XM_017009882.1:c.344T>G, XM_024446219.2:c.344T>G, XM_024446219.1:c.344T>G, XM_047417765.1:c.-933T>G, XM_047417767.1:c.344T>G, XM_047417768.1:c.344T>G, XM_047417769.1:c.344T>G, XM_047417770.1:c.344T>G, XP_005248433.1:p.Val115Gly, XP_005248434.1:p.Val115Gly, XP_005248435.1:p.Val115Gly, XP_011512437.1:p.Val115Gly, XP_011512439.1:p.Val115Gly, XP_011512440.1:p.Val115Gly, XP_011512441.1:p.Val115Gly, XP_011512438.1:p.Val115Gly, NP_079143.3:p.Val115Gly, NP_653323.1:p.Val115Gly, XP_011512442.1:p.Val115Gly, XP_016865369.1:p.Val115Gly, XP_016865371.1:p.Val115Gly, XP_024301987.1:p.Val115Gly, XP_047273723.1:p.Val115Gly, XP_047273724.1:p.Val115Gly, XP_047273725.1:p.Val115Gly, XP_047273726.1:p.Val115Gly

                                      19.

                                      rs1459926132 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->TTTT [Show Flanks]
                                        Chromosome:
                                        5:35667113 (GRCh38)
                                        5:35667216 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:35667113::TTTT
                                        Gene:
                                        SPEF2 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000005.10:g.35667113_35667114insTTTT, NC_000005.9:g.35667215_35667216insTTTT, XM_005248376.5:c.1209_1210insTTTT, XM_005248376.4:c.1209_1210insTTTT, XM_005248376.3:c.1209_1210insTTTT, XM_005248376.2:c.1209_1210insTTTT, XM_005248376.1:c.1209_1210insTTTT, XM_005248377.5:c.1209_1210insTTTT, XM_005248377.4:c.1209_1210insTTTT, XM_005248377.3:c.1209_1210insTTTT, XM_005248377.2:c.1209_1210insTTTT, XM_005248377.1:c.1209_1210insTTTT, XM_005248378.5:c.1209_1210insTTTT, XM_005248378.4:c.1209_1210insTTTT, XM_005248378.3:c.1209_1210insTTTT, XM_005248378.2:c.1209_1210insTTTT, XM_005248378.1:c.1209_1210insTTTT, XM_011514135.4:c.1209_1210insTTTT, XM_011514135.3:c.1209_1210insTTTT, XM_011514135.2:c.1209_1210insTTTT, XM_011514135.1:c.1209_1210insTTTT, XM_011514137.4:c.1209_1210insTTTT, XM_011514137.3:c.1209_1210insTTTT, XM_011514137.2:c.1209_1210insTTTT, XM_011514137.1:c.1209_1210insTTTT, XM_011514138.4:c.1209_1210insTTTT, XM_011514138.3:c.1209_1210insTTTT, XM_011514138.2:c.1209_1210insTTTT, XM_011514138.1:c.1209_1210insTTTT, XM_011514139.4:c.1209_1210insTTTT, XM_011514139.3:c.1209_1210insTTTT, XM_011514139.2:c.1209_1210insTTTT, XM_011514139.1:c.1209_1210insTTTT, XM_011514136.4:c.1209_1210insTTTT, XM_011514136.3:c.1209_1210insTTTT, XM_011514136.2:c.1209_1210insTTTT, XM_011514136.1:c.1209_1210insTTTT, NM_024867.4:c.1209_1210insTTTT, NM_024867.3:c.1209_1210insTTTT, NM_144722.4:c.1209_1210insTTTT, NM_144722.3:c.1209_1210insTTTT, XR_925655.3:n.1344_1345insTTTT, XR_925655.2:n.1312_1313insTTTT, XR_925655.1:n.1425_1426insTTTT, XM_011514140.3:c.1038_1039insTTTT, XM_011514140.2:c.1038_1039insTTTT, XM_011514140.1:c.1038_1039insTTTT, XM_017009880.3:c.1038_1039insTTTT, XM_017009880.2:c.1038_1039insTTTT, XM_017009880.1:c.1038_1039insTTTT, XM_017009882.3:c.1209_1210insTTTT, XM_017009882.2:c.1209_1210insTTTT, XM_017009882.1:c.1209_1210insTTTT, XM_024446219.2:c.1038_1039insTTTT, XM_024446219.1:c.1038_1039insTTTT, XM_047417766.1:c.783_784insTTTT, XM_047417765.1:c.783_784insTTTT, XM_047417767.1:c.1209_1210insTTTT, XM_047417768.1:c.1209_1210insTTTT, XM_047417769.1:c.1209_1210insTTTT, XM_047417770.1:c.1209_1210insTTTT, XP_005248433.1:p.Leu404fs, XP_005248434.1:p.Leu404fs, XP_005248435.1:p.Leu404fs, XP_011512437.1:p.Leu404fs, XP_011512439.1:p.Leu404fs, XP_011512440.1:p.Leu404fs, XP_011512441.1:p.Leu404fs, XP_011512438.1:p.Leu404fs, NP_079143.3:p.Leu404fs, NP_653323.1:p.Leu404fs, XP_011512442.1:p.Leu347fs, XP_016865369.1:p.Leu347fs, XP_016865371.1:p.Leu404fs, XP_024301987.1:p.Leu347fs, XP_047273722.1:p.Leu262fs, XP_047273721.1:p.Leu262fs, XP_047273723.1:p.Leu404fs, XP_047273724.1:p.Leu404fs, XP_047273725.1:p.Leu404fs, XP_047273726.1:p.Leu404fs

                                        20.

                                        rs1455248147 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          5:35641478 (GRCh38)
                                          5:35641580 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:35641477:T:A,NC_000005.10:35641477:T:C
                                          Gene:
                                          SPEF2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.35641478T>A, NC_000005.10:g.35641478T>C, NC_000005.9:g.35641580T>A, NC_000005.9:g.35641580T>C, XM_005248376.5:c.209T>A, XM_005248376.5:c.209T>C, XM_005248376.4:c.209T>A, XM_005248376.4:c.209T>C, XM_005248376.3:c.209T>A, XM_005248376.3:c.209T>C, XM_005248376.2:c.209T>A, XM_005248376.2:c.209T>C, XM_005248376.1:c.209T>A, XM_005248376.1:c.209T>C, XM_005248377.5:c.209T>A, XM_005248377.5:c.209T>C, XM_005248377.4:c.209T>A, XM_005248377.4:c.209T>C, XM_005248377.3:c.209T>A, XM_005248377.3:c.209T>C, XM_005248377.2:c.209T>A, XM_005248377.2:c.209T>C, XM_005248377.1:c.209T>A, XM_005248377.1:c.209T>C, XM_005248378.5:c.209T>A, XM_005248378.5:c.209T>C, XM_005248378.4:c.209T>A, XM_005248378.4:c.209T>C, XM_005248378.3:c.209T>A, XM_005248378.3:c.209T>C, XM_005248378.2:c.209T>A, XM_005248378.2:c.209T>C, XM_005248378.1:c.209T>A, XM_005248378.1:c.209T>C, XM_011514135.4:c.209T>A, XM_011514135.4:c.209T>C, XM_011514135.3:c.209T>A, XM_011514135.3:c.209T>C, XM_011514135.2:c.209T>A, XM_011514135.2:c.209T>C, XM_011514135.1:c.209T>A, XM_011514135.1:c.209T>C, XM_011514137.4:c.209T>A, XM_011514137.4:c.209T>C, XM_011514137.3:c.209T>A, XM_011514137.3:c.209T>C, XM_011514137.2:c.209T>A, XM_011514137.2:c.209T>C, XM_011514137.1:c.209T>A, XM_011514137.1:c.209T>C, XM_011514138.4:c.209T>A, XM_011514138.4:c.209T>C, XM_011514138.3:c.209T>A, XM_011514138.3:c.209T>C, XM_011514138.2:c.209T>A, XM_011514138.2:c.209T>C, XM_011514138.1:c.209T>A, XM_011514138.1:c.209T>C, XM_011514139.4:c.209T>A, XM_011514139.4:c.209T>C, XM_011514139.3:c.209T>A, XM_011514139.3:c.209T>C, XM_011514139.2:c.209T>A, XM_011514139.2:c.209T>C, XM_011514139.1:c.209T>A, XM_011514139.1:c.209T>C, XM_011514136.4:c.209T>A, XM_011514136.4:c.209T>C, XM_011514136.3:c.209T>A, XM_011514136.3:c.209T>C, XM_011514136.2:c.209T>A, XM_011514136.2:c.209T>C, XM_011514136.1:c.209T>A, XM_011514136.1:c.209T>C, NM_024867.4:c.209T>A, NM_024867.4:c.209T>C, NM_024867.3:c.209T>A, NM_024867.3:c.209T>C, NM_144722.4:c.209T>A, NM_144722.4:c.209T>C, NM_144722.3:c.209T>A, NM_144722.3:c.209T>C, XR_925655.3:n.344T>A, XR_925655.3:n.344T>C, XR_925655.2:n.312T>A, XR_925655.2:n.312T>C, XR_925655.1:n.425T>A, XR_925655.1:n.425T>C, XM_011514140.3:c.209T>A, XM_011514140.3:c.209T>C, XM_011514140.2:c.209T>A, XM_011514140.2:c.209T>C, XM_011514140.1:c.209T>A, XM_011514140.1:c.209T>C, XM_017009880.3:c.209T>A, XM_017009880.3:c.209T>C, XM_017009880.2:c.209T>A, XM_017009880.2:c.209T>C, XM_017009880.1:c.209T>A, XM_017009880.1:c.209T>C, XM_017009882.3:c.209T>A, XM_017009882.3:c.209T>C, XM_017009882.2:c.209T>A, XM_017009882.2:c.209T>C, XM_017009882.1:c.209T>A, XM_017009882.1:c.209T>C, XM_024446219.2:c.209T>A, XM_024446219.2:c.209T>C, XM_024446219.1:c.209T>A, XM_024446219.1:c.209T>C, XM_047417767.1:c.209T>A, XM_047417767.1:c.209T>C, XM_047417768.1:c.209T>A, XM_047417768.1:c.209T>C, XM_047417769.1:c.209T>A, XM_047417769.1:c.209T>C, XM_047417770.1:c.209T>A, XM_047417770.1:c.209T>C, XP_005248433.1:p.Leu70His, XP_005248433.1:p.Leu70Pro, XP_005248434.1:p.Leu70His, XP_005248434.1:p.Leu70Pro, XP_005248435.1:p.Leu70His, XP_005248435.1:p.Leu70Pro, XP_011512437.1:p.Leu70His, XP_011512437.1:p.Leu70Pro, XP_011512439.1:p.Leu70His, XP_011512439.1:p.Leu70Pro, XP_011512440.1:p.Leu70His, XP_011512440.1:p.Leu70Pro, XP_011512441.1:p.Leu70His, XP_011512441.1:p.Leu70Pro, XP_011512438.1:p.Leu70His, XP_011512438.1:p.Leu70Pro, NP_079143.3:p.Leu70His, NP_079143.3:p.Leu70Pro, NP_653323.1:p.Leu70His, NP_653323.1:p.Leu70Pro, XP_011512442.1:p.Leu70His, XP_011512442.1:p.Leu70Pro, XP_016865369.1:p.Leu70His, XP_016865369.1:p.Leu70Pro, XP_016865371.1:p.Leu70His, XP_016865371.1:p.Leu70Pro, XP_024301987.1:p.Leu70His, XP_024301987.1:p.Leu70Pro, XP_047273723.1:p.Leu70His, XP_047273723.1:p.Leu70Pro, XP_047273724.1:p.Leu70His, XP_047273724.1:p.Leu70Pro, XP_047273725.1:p.Leu70His, XP_047273725.1:p.Leu70Pro, XP_047273726.1:p.Leu70His, XP_047273726.1:p.Leu70Pro

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