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Items: 1 to 20 of 287

1.

rs1489746212 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:157460292 (GRCh38)
    3:157178081 (GRCh37)
    Canonical SPDI:
    NC_000003.12:157460291:C:G
    Gene:
    VEPH1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.157460292C>G, NC_000003.11:g.157178081C>G, XM_011513134.3:c.451G>C, XM_011513134.2:c.451G>C, XM_011513134.1:c.451G>C, XM_011513135.3:c.283G>C, XM_011513135.2:c.283G>C, XM_011513135.1:c.283G>C, NM_001167915.3:c.418G>C, NM_001167915.2:c.418G>C, NM_001167915.1:c.418G>C, NM_001167916.3:c.418G>C, NM_001167916.2:c.418G>C, NM_001167916.1:c.418G>C, XM_024453746.2:c.418G>C, XM_024453746.1:c.418G>C, XM_024453747.2:c.418G>C, XM_024453747.1:c.418G>C, NM_024621.2:c.418G>C, NM_001167912.2:c.418G>C, NM_001167912.1:c.418G>C, XM_024453748.2:c.418G>C, XM_024453748.1:c.418G>C, NM_001167911.2:c.418G>C, NM_001167911.1:c.418G>C, XM_024453749.2:c.418G>C, XM_024453749.1:c.418G>C, XM_024453750.2:c.418G>C, XM_024453750.1:c.418G>C, XM_047448921.1:c.418G>C, XM_047448923.1:c.82G>C, XM_047448922.1:c.418G>C, XM_047448924.1:c.82G>C, XM_047448926.1:c.82G>C, XM_047448927.1:c.82G>C, XM_047448925.1:c.82G>C, XM_047448930.1:c.418G>C, XM_047448929.1:c.418G>C, XM_047448928.1:c.418G>C, XM_047448931.1:c.418G>C, NM_001167917.1:c.418G>C, XP_011511436.1:p.Gly151Arg, XP_011511437.1:p.Gly95Arg, NP_001161387.1:p.Gly140Arg, NP_001161388.1:p.Gly140Arg, XP_024309514.1:p.Gly140Arg, XP_024309515.1:p.Gly140Arg, NP_078897.2:p.Gly140Arg, NP_001161384.1:p.Gly140Arg, XP_024309516.1:p.Gly140Arg, NP_001161383.1:p.Gly140Arg, XP_024309517.1:p.Gly140Arg, XP_024309518.1:p.Gly140Arg, XP_047304877.1:p.Gly140Arg, XP_047304879.1:p.Gly28Arg, XP_047304878.1:p.Gly140Arg, XP_047304880.1:p.Gly28Arg, XP_047304882.1:p.Gly28Arg, XP_047304883.1:p.Gly28Arg, XP_047304881.1:p.Gly28Arg, XP_047304886.1:p.Gly140Arg, XP_047304885.1:p.Gly140Arg, XP_047304884.1:p.Gly140Arg, XP_047304887.1:p.Gly140Arg, NP_001161389.1:p.Gly140Arg

    2.

    rs1489154120 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:157470386 (GRCh38)
      3:157188175 (GRCh37)
      Canonical SPDI:
      NC_000003.12:157470385:C:T
      Gene:
      VEPH1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.157470386C>T, NC_000003.11:g.157188175C>T, XM_011513134.3:c.315G>A, XM_011513134.2:c.315G>A, XM_011513134.1:c.315G>A, XM_011513135.3:c.147G>A, XM_011513135.2:c.147G>A, XM_011513135.1:c.147G>A, NM_001167915.3:c.282G>A, NM_001167915.2:c.282G>A, NM_001167915.1:c.282G>A, NM_001167916.3:c.282G>A, NM_001167916.2:c.282G>A, NM_001167916.1:c.282G>A, XM_024453746.2:c.282G>A, XM_024453746.1:c.282G>A, XM_024453747.2:c.282G>A, XM_024453747.1:c.282G>A, NM_024621.2:c.282G>A, NM_001167912.2:c.282G>A, NM_001167912.1:c.282G>A, XM_024453748.2:c.282G>A, XM_024453748.1:c.282G>A, NM_001167911.2:c.282G>A, NM_001167911.1:c.282G>A, XM_024453749.2:c.282G>A, XM_024453749.1:c.282G>A, XM_024453750.2:c.282G>A, XM_024453750.1:c.282G>A, XM_047448921.1:c.282G>A, XM_047448923.1:c.-55G>A, XM_047448922.1:c.282G>A, XM_047448924.1:c.-55G>A, XM_047448926.1:c.-55G>A, XM_047448927.1:c.-55G>A, XM_047448925.1:c.-55G>A, XM_047448930.1:c.282G>A, XM_047448929.1:c.282G>A, XM_047448928.1:c.282G>A, XM_047448931.1:c.282G>A, NM_001167917.1:c.282G>A

      3.

      rs1487669073 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        3:157495225 (GRCh38)
        3:157213014 (GRCh37)
        Canonical SPDI:
        NC_000003.12:157495224:A:T
        Gene:
        VEPH1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.157495225A>T, NC_000003.11:g.157213014A>T, NM_001167915.3:c.125T>A, NM_001167915.2:c.125T>A, NM_001167915.1:c.125T>A, NM_001167916.3:c.125T>A, NM_001167916.2:c.125T>A, NM_001167916.1:c.125T>A, XM_024453746.2:c.125T>A, XM_024453746.1:c.125T>A, XM_024453747.2:c.125T>A, XM_024453747.1:c.125T>A, NM_024621.2:c.125T>A, NM_001167912.2:c.125T>A, NM_001167912.1:c.125T>A, XM_024453748.2:c.125T>A, XM_024453748.1:c.125T>A, NM_001167911.2:c.125T>A, NM_001167911.1:c.125T>A, XM_024453749.2:c.125T>A, XM_024453749.1:c.125T>A, XM_024453750.2:c.125T>A, XM_024453750.1:c.125T>A, XM_047448921.1:c.125T>A, XM_047448923.1:c.-318T>A, XM_047448922.1:c.125T>A, XM_047448930.1:c.125T>A, XM_047448929.1:c.125T>A, XM_047448928.1:c.125T>A, XM_047448931.1:c.125T>A, NM_001167917.1:c.125T>A, NP_001161387.1:p.Ile42Asn, NP_001161388.1:p.Ile42Asn, XP_024309514.1:p.Ile42Asn, XP_024309515.1:p.Ile42Asn, NP_078897.2:p.Ile42Asn, NP_001161384.1:p.Ile42Asn, XP_024309516.1:p.Ile42Asn, NP_001161383.1:p.Ile42Asn, XP_024309517.1:p.Ile42Asn, XP_024309518.1:p.Ile42Asn, XP_047304877.1:p.Ile42Asn, XP_047304878.1:p.Ile42Asn, XP_047304886.1:p.Ile42Asn, XP_047304885.1:p.Ile42Asn, XP_047304884.1:p.Ile42Asn, XP_047304887.1:p.Ile42Asn, NP_001161389.1:p.Ile42Asn

        4.

        rs1485707312 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:157459871 (GRCh38)
          3:157177660 (GRCh37)
          Canonical SPDI:
          NC_000003.12:157459870:C:T
          Gene:
          VEPH1 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000011/3 (TOPMED)
          HGVS:

          5.

          rs1485353827 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            3:157459865 (GRCh38)
            3:157177654 (GRCh37)
            Canonical SPDI:
            NC_000003.12:157459864:T:A
            Gene:
            VEPH1 (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1482723928 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              3:157470320 (GRCh38)
              3:157188109 (GRCh37)
              Canonical SPDI:
              NC_000003.12:157470319:A:T
              Gene:
              VEPH1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.157470320A>T, NC_000003.11:g.157188109A>T, XM_011513134.3:c.381T>A, XM_011513134.2:c.381T>A, XM_011513134.1:c.381T>A, XM_011513135.3:c.213T>A, XM_011513135.2:c.213T>A, XM_011513135.1:c.213T>A, NM_001167915.3:c.348T>A, NM_001167915.2:c.348T>A, NM_001167915.1:c.348T>A, NM_001167916.3:c.348T>A, NM_001167916.2:c.348T>A, NM_001167916.1:c.348T>A, XM_024453746.2:c.348T>A, XM_024453746.1:c.348T>A, XM_024453747.2:c.348T>A, XM_024453747.1:c.348T>A, NM_024621.2:c.348T>A, NM_001167912.2:c.348T>A, NM_001167912.1:c.348T>A, XM_024453748.2:c.348T>A, XM_024453748.1:c.348T>A, NM_001167911.2:c.348T>A, NM_001167911.1:c.348T>A, XM_024453749.2:c.348T>A, XM_024453749.1:c.348T>A, XM_024453750.2:c.348T>A, XM_024453750.1:c.348T>A, XM_047448921.1:c.348T>A, XM_047448923.1:c.12T>A, XM_047448922.1:c.348T>A, XM_047448924.1:c.12T>A, XM_047448926.1:c.12T>A, XM_047448927.1:c.12T>A, XM_047448925.1:c.12T>A, XM_047448930.1:c.348T>A, XM_047448929.1:c.348T>A, XM_047448928.1:c.348T>A, XM_047448931.1:c.348T>A, NM_001167917.1:c.348T>A

              7.

              rs1482606494 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                3:157495389 (GRCh38)
                3:157213178 (GRCh37)
                Canonical SPDI:
                NC_000003.12:157495388:A:C,NC_000003.12:157495388:A:G
                Gene:
                VEPH1 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.157495389A>C, NC_000003.12:g.157495389A>G, NC_000003.11:g.157213178A>C, NC_000003.11:g.157213178A>G, NM_001167915.3:c.-40T>G, NM_001167915.3:c.-40T>C, NM_001167915.2:c.-40T>G, NM_001167915.2:c.-40T>C, NM_001167915.1:c.-40T>G, NM_001167915.1:c.-40T>C, NM_001167916.3:c.-40T>G, NM_001167916.3:c.-40T>C, NM_001167916.2:c.-40T>G, NM_001167916.2:c.-40T>C, NM_001167916.1:c.-40T>G, NM_001167916.1:c.-40T>C, XM_024453746.2:c.-40T>G, XM_024453746.2:c.-40T>C, XM_024453746.1:c.-40T>G, XM_024453746.1:c.-40T>C, XM_024453747.2:c.-40T>G, XM_024453747.2:c.-40T>C, XM_024453747.1:c.-40T>G, XM_024453747.1:c.-40T>C, NM_024621.2:c.-40T>G, NM_024621.2:c.-40T>C, NM_001167912.2:c.-40T>G, NM_001167912.2:c.-40T>C, NM_001167912.1:c.-40T>G, NM_001167912.1:c.-40T>C, XM_024453748.2:c.-40T>G, XM_024453748.2:c.-40T>C, XM_024453748.1:c.-40T>G, XM_024453748.1:c.-40T>C, NM_001167911.2:c.-40T>G, NM_001167911.2:c.-40T>C, NM_001167911.1:c.-40T>G, NM_001167911.1:c.-40T>C, XM_024453749.2:c.-40T>G, XM_024453749.2:c.-40T>C, XM_024453749.1:c.-40T>G, XM_024453749.1:c.-40T>C, XM_024453750.2:c.-40T>G, XM_024453750.2:c.-40T>C, XM_024453750.1:c.-40T>G, XM_024453750.1:c.-40T>C, XM_047448921.1:c.-40T>G, XM_047448921.1:c.-40T>C, XM_047448923.1:c.-482T>G, XM_047448923.1:c.-482T>C, XM_047448922.1:c.-40T>G, XM_047448922.1:c.-40T>C, XM_047448930.1:c.-40T>G, XM_047448930.1:c.-40T>C, XM_047448929.1:c.-40T>G, XM_047448929.1:c.-40T>C, XM_047448928.1:c.-40T>G, XM_047448928.1:c.-40T>C, XM_047448931.1:c.-40T>G, XM_047448931.1:c.-40T>C, NM_001167917.1:c.-40T>G, NM_001167917.1:c.-40T>C

                8.

                rs1479493475 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  3:157470331 (GRCh38)
                  3:157188120 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:157470330:T:G
                  Gene:
                  VEPH1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,initiator_codon_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.157470331T>G, NC_000003.11:g.157188120T>G, XM_011513134.3:c.370A>C, XM_011513134.2:c.370A>C, XM_011513134.1:c.370A>C, XM_011513135.3:c.202A>C, XM_011513135.2:c.202A>C, XM_011513135.1:c.202A>C, NM_001167915.3:c.337A>C, NM_001167915.2:c.337A>C, NM_001167915.1:c.337A>C, NM_001167916.3:c.337A>C, NM_001167916.2:c.337A>C, NM_001167916.1:c.337A>C, XM_024453746.2:c.337A>C, XM_024453746.1:c.337A>C, XM_024453747.2:c.337A>C, XM_024453747.1:c.337A>C, NM_024621.2:c.337A>C, NM_001167912.2:c.337A>C, NM_001167912.1:c.337A>C, XM_024453748.2:c.337A>C, XM_024453748.1:c.337A>C, NM_001167911.2:c.337A>C, NM_001167911.1:c.337A>C, XM_024453749.2:c.337A>C, XM_024453749.1:c.337A>C, XM_024453750.2:c.337A>C, XM_024453750.1:c.337A>C, XM_047448921.1:c.337A>C, XM_047448923.1:c.1A>C, XM_047448922.1:c.337A>C, XM_047448924.1:c.1A>C, XM_047448926.1:c.1A>C, XM_047448927.1:c.1A>C, XM_047448925.1:c.1A>C, XM_047448930.1:c.337A>C, XM_047448929.1:c.337A>C, XM_047448928.1:c.337A>C, XM_047448931.1:c.337A>C, NM_001167917.1:c.337A>C, XP_011511436.1:p.Met124Leu, XP_011511437.1:p.Met68Leu, NP_001161387.1:p.Met113Leu, NP_001161388.1:p.Met113Leu, XP_024309514.1:p.Met113Leu, XP_024309515.1:p.Met113Leu, NP_078897.2:p.Met113Leu, NP_001161384.1:p.Met113Leu, XP_024309516.1:p.Met113Leu, NP_001161383.1:p.Met113Leu, XP_024309517.1:p.Met113Leu, XP_024309518.1:p.Met113Leu, XP_047304877.1:p.Met113Leu, XP_047304879.1:p.Met1Leu, XP_047304878.1:p.Met113Leu, XP_047304880.1:p.Met1Leu, XP_047304882.1:p.Met1Leu, XP_047304883.1:p.Met1Leu, XP_047304881.1:p.Met1Leu, XP_047304886.1:p.Met113Leu, XP_047304885.1:p.Met113Leu, XP_047304884.1:p.Met113Leu, XP_047304887.1:p.Met113Leu, NP_001161389.1:p.Met113Leu

                  9.

                  rs1479412974 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    3:157495257 (GRCh38)
                    3:157213046 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:157495256:G:A,NC_000003.12:157495256:G:T
                    Gene:
                    VEPH1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.157495257G>A, NC_000003.12:g.157495257G>T, NC_000003.11:g.157213046G>A, NC_000003.11:g.157213046G>T, NM_001167915.3:c.93C>T, NM_001167915.3:c.93C>A, NM_001167915.2:c.93C>T, NM_001167915.2:c.93C>A, NM_001167915.1:c.93C>T, NM_001167915.1:c.93C>A, NM_001167916.3:c.93C>T, NM_001167916.3:c.93C>A, NM_001167916.2:c.93C>T, NM_001167916.2:c.93C>A, NM_001167916.1:c.93C>T, NM_001167916.1:c.93C>A, XM_024453746.2:c.93C>T, XM_024453746.2:c.93C>A, XM_024453746.1:c.93C>T, XM_024453746.1:c.93C>A, XM_024453747.2:c.93C>T, XM_024453747.2:c.93C>A, XM_024453747.1:c.93C>T, XM_024453747.1:c.93C>A, NM_024621.2:c.93C>T, NM_024621.2:c.93C>A, NM_001167912.2:c.93C>T, NM_001167912.2:c.93C>A, NM_001167912.1:c.93C>T, NM_001167912.1:c.93C>A, XM_024453748.2:c.93C>T, XM_024453748.2:c.93C>A, XM_024453748.1:c.93C>T, XM_024453748.1:c.93C>A, NM_001167911.2:c.93C>T, NM_001167911.2:c.93C>A, NM_001167911.1:c.93C>T, NM_001167911.1:c.93C>A, XM_024453749.2:c.93C>T, XM_024453749.2:c.93C>A, XM_024453749.1:c.93C>T, XM_024453749.1:c.93C>A, XM_024453750.2:c.93C>T, XM_024453750.2:c.93C>A, XM_024453750.1:c.93C>T, XM_024453750.1:c.93C>A, XM_047448921.1:c.93C>T, XM_047448921.1:c.93C>A, XM_047448923.1:c.-350C>T, XM_047448923.1:c.-350C>A, XM_047448922.1:c.93C>T, XM_047448922.1:c.93C>A, XM_047448930.1:c.93C>T, XM_047448930.1:c.93C>A, XM_047448929.1:c.93C>T, XM_047448929.1:c.93C>A, XM_047448928.1:c.93C>T, XM_047448928.1:c.93C>A, XM_047448931.1:c.93C>T, XM_047448931.1:c.93C>A, NM_001167917.1:c.93C>T, NM_001167917.1:c.93C>A, NP_001161387.1:p.Ser31Arg, NP_001161388.1:p.Ser31Arg, XP_024309514.1:p.Ser31Arg, XP_024309515.1:p.Ser31Arg, NP_078897.2:p.Ser31Arg, NP_001161384.1:p.Ser31Arg, XP_024309516.1:p.Ser31Arg, NP_001161383.1:p.Ser31Arg, XP_024309517.1:p.Ser31Arg, XP_024309518.1:p.Ser31Arg, XP_047304877.1:p.Ser31Arg, XP_047304878.1:p.Ser31Arg, XP_047304886.1:p.Ser31Arg, XP_047304885.1:p.Ser31Arg, XP_047304884.1:p.Ser31Arg, XP_047304887.1:p.Ser31Arg, NP_001161389.1:p.Ser31Arg

                    10.

                    rs1478741590 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:157460274 (GRCh38)
                      3:157178063 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:157460273:T:C
                      Gene:
                      VEPH1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000003.12:g.157460274T>C, NC_000003.11:g.157178063T>C, XM_011513134.3:c.469A>G, XM_011513134.2:c.469A>G, XM_011513134.1:c.469A>G, XM_011513135.3:c.301A>G, XM_011513135.2:c.301A>G, XM_011513135.1:c.301A>G, NM_001167915.3:c.436A>G, NM_001167915.2:c.436A>G, NM_001167915.1:c.436A>G, NM_001167916.3:c.436A>G, NM_001167916.2:c.436A>G, NM_001167916.1:c.436A>G, XM_024453746.2:c.436A>G, XM_024453746.1:c.436A>G, XM_024453747.2:c.436A>G, XM_024453747.1:c.436A>G, NM_024621.2:c.436A>G, NM_001167912.2:c.436A>G, NM_001167912.1:c.436A>G, XM_024453748.2:c.436A>G, XM_024453748.1:c.436A>G, NM_001167911.2:c.436A>G, NM_001167911.1:c.436A>G, XM_024453749.2:c.436A>G, XM_024453749.1:c.436A>G, XM_024453750.2:c.436A>G, XM_024453750.1:c.436A>G, XM_047448921.1:c.436A>G, XM_047448923.1:c.100A>G, XM_047448922.1:c.436A>G, XM_047448924.1:c.100A>G, XM_047448926.1:c.100A>G, XM_047448927.1:c.100A>G, XM_047448925.1:c.100A>G, XM_047448930.1:c.436A>G, XM_047448929.1:c.436A>G, XM_047448928.1:c.436A>G, XM_047448931.1:c.436A>G, NM_001167917.1:c.436A>G, XP_011511436.1:p.Arg157Gly, XP_011511437.1:p.Arg101Gly, NP_001161387.1:p.Arg146Gly, NP_001161388.1:p.Arg146Gly, XP_024309514.1:p.Arg146Gly, XP_024309515.1:p.Arg146Gly, NP_078897.2:p.Arg146Gly, NP_001161384.1:p.Arg146Gly, XP_024309516.1:p.Arg146Gly, NP_001161383.1:p.Arg146Gly, XP_024309517.1:p.Arg146Gly, XP_024309518.1:p.Arg146Gly, XP_047304877.1:p.Arg146Gly, XP_047304879.1:p.Arg34Gly, XP_047304878.1:p.Arg146Gly, XP_047304880.1:p.Arg34Gly, XP_047304882.1:p.Arg34Gly, XP_047304883.1:p.Arg34Gly, XP_047304881.1:p.Arg34Gly, XP_047304886.1:p.Arg146Gly, XP_047304885.1:p.Arg146Gly, XP_047304884.1:p.Arg146Gly, XP_047304887.1:p.Arg146Gly, NP_001161389.1:p.Arg146Gly

                      11.

                      rs1474448921 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:157470411 (GRCh38)
                        3:157188200 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:157470410:C:T
                        Gene:
                        VEPH1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.157470411C>T, NC_000003.11:g.157188200C>T, XM_011513134.3:c.290G>A, XM_011513134.2:c.290G>A, XM_011513134.1:c.290G>A, XM_011513135.3:c.122G>A, XM_011513135.2:c.122G>A, XM_011513135.1:c.122G>A, NM_001167915.3:c.257G>A, NM_001167915.2:c.257G>A, NM_001167915.1:c.257G>A, NM_001167916.3:c.257G>A, NM_001167916.2:c.257G>A, NM_001167916.1:c.257G>A, XM_024453746.2:c.257G>A, XM_024453746.1:c.257G>A, XM_024453747.2:c.257G>A, XM_024453747.1:c.257G>A, NM_024621.2:c.257G>A, NM_001167912.2:c.257G>A, NM_001167912.1:c.257G>A, XM_024453748.2:c.257G>A, XM_024453748.1:c.257G>A, NM_001167911.2:c.257G>A, NM_001167911.1:c.257G>A, XM_024453749.2:c.257G>A, XM_024453749.1:c.257G>A, XM_024453750.2:c.257G>A, XM_024453750.1:c.257G>A, XM_047448921.1:c.257G>A, XM_047448923.1:c.-80G>A, XM_047448922.1:c.257G>A, XM_047448924.1:c.-80G>A, XM_047448926.1:c.-80G>A, XM_047448927.1:c.-80G>A, XM_047448925.1:c.-80G>A, XM_047448930.1:c.257G>A, XM_047448929.1:c.257G>A, XM_047448928.1:c.257G>A, XM_047448931.1:c.257G>A, NM_001167917.1:c.257G>A, XP_011511436.1:p.Trp97Ter, XP_011511437.1:p.Trp41Ter, NP_001161387.1:p.Trp86Ter, NP_001161388.1:p.Trp86Ter, XP_024309514.1:p.Trp86Ter, XP_024309515.1:p.Trp86Ter, NP_078897.2:p.Trp86Ter, NP_001161384.1:p.Trp86Ter, XP_024309516.1:p.Trp86Ter, NP_001161383.1:p.Trp86Ter, XP_024309517.1:p.Trp86Ter, XP_024309518.1:p.Trp86Ter, XP_047304877.1:p.Trp86Ter, XP_047304878.1:p.Trp86Ter, XP_047304886.1:p.Trp86Ter, XP_047304885.1:p.Trp86Ter, XP_047304884.1:p.Trp86Ter, XP_047304887.1:p.Trp86Ter, NP_001161389.1:p.Trp86Ter

                        12.

                        rs1473525462 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:157459836 (GRCh38)
                          3:157177625 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:157459835:A:G
                          Gene:
                          VEPH1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1473196468 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:157460245 (GRCh38)
                            3:157178034 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:157460244:A:G
                            Gene:
                            VEPH1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.157460245A>G, NC_000003.11:g.157178034A>G, XM_011513134.3:c.498T>C, XM_011513134.2:c.498T>C, XM_011513134.1:c.498T>C, XM_011513135.3:c.330T>C, XM_011513135.2:c.330T>C, XM_011513135.1:c.330T>C, NM_001167915.3:c.465T>C, NM_001167915.2:c.465T>C, NM_001167915.1:c.465T>C, NM_001167916.3:c.465T>C, NM_001167916.2:c.465T>C, NM_001167916.1:c.465T>C, XM_024453746.2:c.465T>C, XM_024453746.1:c.465T>C, XM_024453747.2:c.465T>C, XM_024453747.1:c.465T>C, NM_024621.2:c.465T>C, NM_001167912.2:c.465T>C, NM_001167912.1:c.465T>C, XM_024453748.2:c.465T>C, XM_024453748.1:c.465T>C, NM_001167911.2:c.465T>C, NM_001167911.1:c.465T>C, XM_024453749.2:c.465T>C, XM_024453749.1:c.465T>C, XM_024453750.2:c.465T>C, XM_024453750.1:c.465T>C, XM_047448921.1:c.465T>C, XM_047448923.1:c.129T>C, XM_047448922.1:c.465T>C, XM_047448924.1:c.129T>C, XM_047448926.1:c.129T>C, XM_047448927.1:c.129T>C, XM_047448925.1:c.129T>C, XM_047448930.1:c.465T>C, XM_047448929.1:c.465T>C, XM_047448928.1:c.465T>C, XM_047448931.1:c.465T>C, NM_001167917.1:c.465T>C

                            14.

                            rs1467034040 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              3:157459677 (GRCh38)
                              3:157177466 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:157459676:G:C
                              Gene:
                              VEPH1 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1462611826 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                3:157495279 (GRCh38)
                                3:157213068 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:157495278:T:A
                                Gene:
                                VEPH1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000003.12:g.157495279T>A, NC_000003.11:g.157213068T>A, NM_001167915.3:c.71A>T, NM_001167915.2:c.71A>T, NM_001167915.1:c.71A>T, NM_001167916.3:c.71A>T, NM_001167916.2:c.71A>T, NM_001167916.1:c.71A>T, XM_024453746.2:c.71A>T, XM_024453746.1:c.71A>T, XM_024453747.2:c.71A>T, XM_024453747.1:c.71A>T, NM_024621.2:c.71A>T, NM_001167912.2:c.71A>T, NM_001167912.1:c.71A>T, XM_024453748.2:c.71A>T, XM_024453748.1:c.71A>T, NM_001167911.2:c.71A>T, NM_001167911.1:c.71A>T, XM_024453749.2:c.71A>T, XM_024453749.1:c.71A>T, XM_024453750.2:c.71A>T, XM_024453750.1:c.71A>T, XM_047448921.1:c.71A>T, XM_047448923.1:c.-372A>T, XM_047448922.1:c.71A>T, XM_047448930.1:c.71A>T, XM_047448929.1:c.71A>T, XM_047448928.1:c.71A>T, XM_047448931.1:c.71A>T, NM_001167917.1:c.71A>T, NP_001161387.1:p.Asp24Val, NP_001161388.1:p.Asp24Val, XP_024309514.1:p.Asp24Val, XP_024309515.1:p.Asp24Val, NP_078897.2:p.Asp24Val, NP_001161384.1:p.Asp24Val, XP_024309516.1:p.Asp24Val, NP_001161383.1:p.Asp24Val, XP_024309517.1:p.Asp24Val, XP_024309518.1:p.Asp24Val, XP_047304877.1:p.Asp24Val, XP_047304878.1:p.Asp24Val, XP_047304886.1:p.Asp24Val, XP_047304885.1:p.Asp24Val, XP_047304884.1:p.Asp24Val, XP_047304887.1:p.Asp24Val, NP_001161389.1:p.Asp24Val

                                16.

                                rs1456466295 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  3:157460343 (GRCh38)
                                  3:157178132 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:157460342:G:A,NC_000003.12:157460342:G:T
                                  Gene:
                                  VEPH1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000003.12:g.157460343G>A, NC_000003.12:g.157460343G>T, NC_000003.11:g.157178132G>A, NC_000003.11:g.157178132G>T, XM_011513134.3:c.400C>T, XM_011513134.3:c.400C>A, XM_011513134.2:c.400C>T, XM_011513134.2:c.400C>A, XM_011513134.1:c.400C>T, XM_011513134.1:c.400C>A, XM_011513135.3:c.232C>T, XM_011513135.3:c.232C>A, XM_011513135.2:c.232C>T, XM_011513135.2:c.232C>A, XM_011513135.1:c.232C>T, XM_011513135.1:c.232C>A, NM_001167915.3:c.367C>T, NM_001167915.3:c.367C>A, NM_001167915.2:c.367C>T, NM_001167915.2:c.367C>A, NM_001167915.1:c.367C>T, NM_001167915.1:c.367C>A, NM_001167916.3:c.367C>T, NM_001167916.3:c.367C>A, NM_001167916.2:c.367C>T, NM_001167916.2:c.367C>A, NM_001167916.1:c.367C>T, NM_001167916.1:c.367C>A, XM_024453746.2:c.367C>T, XM_024453746.2:c.367C>A, XM_024453746.1:c.367C>T, XM_024453746.1:c.367C>A, XM_024453747.2:c.367C>T, XM_024453747.2:c.367C>A, XM_024453747.1:c.367C>T, XM_024453747.1:c.367C>A, NM_024621.2:c.367C>T, NM_024621.2:c.367C>A, NM_001167912.2:c.367C>T, NM_001167912.2:c.367C>A, NM_001167912.1:c.367C>T, NM_001167912.1:c.367C>A, XM_024453748.2:c.367C>T, XM_024453748.2:c.367C>A, XM_024453748.1:c.367C>T, XM_024453748.1:c.367C>A, NM_001167911.2:c.367C>T, NM_001167911.2:c.367C>A, NM_001167911.1:c.367C>T, NM_001167911.1:c.367C>A, XM_024453749.2:c.367C>T, XM_024453749.2:c.367C>A, XM_024453749.1:c.367C>T, XM_024453749.1:c.367C>A, XM_024453750.2:c.367C>T, XM_024453750.2:c.367C>A, XM_024453750.1:c.367C>T, XM_024453750.1:c.367C>A, XM_047448921.1:c.367C>T, XM_047448921.1:c.367C>A, XM_047448923.1:c.31C>T, XM_047448923.1:c.31C>A, XM_047448922.1:c.367C>T, XM_047448922.1:c.367C>A, XM_047448924.1:c.31C>T, XM_047448924.1:c.31C>A, XM_047448926.1:c.31C>T, XM_047448926.1:c.31C>A, XM_047448927.1:c.31C>T, XM_047448927.1:c.31C>A, XM_047448925.1:c.31C>T, XM_047448925.1:c.31C>A, XM_047448930.1:c.367C>T, XM_047448930.1:c.367C>A, XM_047448929.1:c.367C>T, XM_047448929.1:c.367C>A, XM_047448928.1:c.367C>T, XM_047448928.1:c.367C>A, XM_047448931.1:c.367C>T, XM_047448931.1:c.367C>A, NM_001167917.1:c.367C>T, NM_001167917.1:c.367C>A, XP_011511436.1:p.Pro134Ser, XP_011511436.1:p.Pro134Thr, XP_011511437.1:p.Pro78Ser, XP_011511437.1:p.Pro78Thr, NP_001161387.1:p.Pro123Ser, NP_001161387.1:p.Pro123Thr, NP_001161388.1:p.Pro123Ser, NP_001161388.1:p.Pro123Thr, XP_024309514.1:p.Pro123Ser, XP_024309514.1:p.Pro123Thr, XP_024309515.1:p.Pro123Ser, XP_024309515.1:p.Pro123Thr, NP_078897.2:p.Pro123Ser, NP_078897.2:p.Pro123Thr, NP_001161384.1:p.Pro123Ser, NP_001161384.1:p.Pro123Thr, XP_024309516.1:p.Pro123Ser, XP_024309516.1:p.Pro123Thr, NP_001161383.1:p.Pro123Ser, NP_001161383.1:p.Pro123Thr, XP_024309517.1:p.Pro123Ser, XP_024309517.1:p.Pro123Thr, XP_024309518.1:p.Pro123Ser, XP_024309518.1:p.Pro123Thr, XP_047304877.1:p.Pro123Ser, XP_047304877.1:p.Pro123Thr, XP_047304879.1:p.Pro11Ser, XP_047304879.1:p.Pro11Thr, XP_047304878.1:p.Pro123Ser, XP_047304878.1:p.Pro123Thr, XP_047304880.1:p.Pro11Ser, XP_047304880.1:p.Pro11Thr, XP_047304882.1:p.Pro11Ser, XP_047304882.1:p.Pro11Thr, XP_047304883.1:p.Pro11Ser, XP_047304883.1:p.Pro11Thr, XP_047304881.1:p.Pro11Ser, XP_047304881.1:p.Pro11Thr, XP_047304886.1:p.Pro123Ser, XP_047304886.1:p.Pro123Thr, XP_047304885.1:p.Pro123Ser, XP_047304885.1:p.Pro123Thr, XP_047304884.1:p.Pro123Ser, XP_047304884.1:p.Pro123Thr, XP_047304887.1:p.Pro123Ser, XP_047304887.1:p.Pro123Thr, NP_001161389.1:p.Pro123Ser, NP_001161389.1:p.Pro123Thr

                                  17.

                                  rs1452458896 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:157459848 (GRCh38)
                                    3:157177637 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:157459847:C:T
                                    Gene:
                                    VEPH1 (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1447132648 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:157470495 (GRCh38)
                                      3:157188284 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:157470494:A:G
                                      Gene:
                                      VEPH1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.157470495A>G, NC_000003.11:g.157188284A>G, XM_011513134.3:c.206T>C, XM_011513134.2:c.206T>C, XM_011513134.1:c.206T>C, XM_011513135.3:c.38T>C, XM_011513135.2:c.38T>C, XM_011513135.1:c.38T>C, NM_001167915.3:c.173T>C, NM_001167915.2:c.173T>C, NM_001167915.1:c.173T>C, NM_001167916.3:c.173T>C, NM_001167916.2:c.173T>C, NM_001167916.1:c.173T>C, XM_024453746.2:c.173T>C, XM_024453746.1:c.173T>C, XM_024453747.2:c.173T>C, XM_024453747.1:c.173T>C, NM_024621.2:c.173T>C, NM_001167912.2:c.173T>C, NM_001167912.1:c.173T>C, XM_024453748.2:c.173T>C, XM_024453748.1:c.173T>C, NM_001167911.2:c.173T>C, NM_001167911.1:c.173T>C, XM_024453749.2:c.173T>C, XM_024453749.1:c.173T>C, XM_024453750.2:c.173T>C, XM_024453750.1:c.173T>C, XM_047448921.1:c.173T>C, XM_047448923.1:c.-164T>C, XM_047448922.1:c.173T>C, XM_047448924.1:c.-164T>C, XM_047448926.1:c.-164T>C, XM_047448927.1:c.-164T>C, XM_047448925.1:c.-164T>C, XM_047448930.1:c.173T>C, XM_047448929.1:c.173T>C, XM_047448928.1:c.173T>C, XM_047448931.1:c.173T>C, NM_001167917.1:c.173T>C, XP_011511436.1:p.Val69Ala, XP_011511437.1:p.Val13Ala, NP_001161387.1:p.Val58Ala, NP_001161388.1:p.Val58Ala, XP_024309514.1:p.Val58Ala, XP_024309515.1:p.Val58Ala, NP_078897.2:p.Val58Ala, NP_001161384.1:p.Val58Ala, XP_024309516.1:p.Val58Ala, NP_001161383.1:p.Val58Ala, XP_024309517.1:p.Val58Ala, XP_024309518.1:p.Val58Ala, XP_047304877.1:p.Val58Ala, XP_047304878.1:p.Val58Ala, XP_047304886.1:p.Val58Ala, XP_047304885.1:p.Val58Ala, XP_047304884.1:p.Val58Ala, XP_047304887.1:p.Val58Ala, NP_001161389.1:p.Val58Ala

                                      19.

                                      rs1443963801 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        3:157495490 (GRCh38)
                                        3:157213279 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:157495489:G:T
                                        Gene:
                                        VEPH1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.157495490G>T, NC_000003.11:g.157213279G>T, NM_001167915.3:c.-141C>A, NM_001167915.2:c.-141C>A, NM_001167915.1:c.-141C>A, NM_001167916.3:c.-141C>A, NM_001167916.2:c.-141C>A, NM_001167916.1:c.-141C>A, XM_024453746.2:c.-141C>A, XM_024453746.1:c.-141C>A, XM_024453747.2:c.-141C>A, XM_024453747.1:c.-141C>A, NM_024621.2:c.-141C>A, NM_001167912.2:c.-141C>A, NM_001167912.1:c.-141C>A, XM_024453748.2:c.-141C>A, XM_024453748.1:c.-141C>A, NM_001167911.2:c.-141C>A, NM_001167911.1:c.-141C>A, XM_024453749.2:c.-141C>A, XM_024453749.1:c.-141C>A, XM_024453750.2:c.-141C>A, XM_024453750.1:c.-141C>A, XM_047448921.1:c.-141C>A, XM_047448923.1:c.-583C>A, XM_047448922.1:c.-141C>A, XM_047448930.1:c.-141C>A, XM_047448929.1:c.-141C>A, XM_047448928.1:c.-141C>A, XM_047448931.1:c.-141C>A, NM_001167917.1:c.-141C>A

                                        20.

                                        rs1443888636 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:157470463 (GRCh38)
                                          3:157188252 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:157470462:T:C
                                          Gene:
                                          VEPH1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.157470463T>C, NC_000003.11:g.157188252T>C, XM_011513134.3:c.238A>G, XM_011513134.2:c.238A>G, XM_011513134.1:c.238A>G, XM_011513135.3:c.70A>G, XM_011513135.2:c.70A>G, XM_011513135.1:c.70A>G, NM_001167915.3:c.205A>G, NM_001167915.2:c.205A>G, NM_001167915.1:c.205A>G, NM_001167916.3:c.205A>G, NM_001167916.2:c.205A>G, NM_001167916.1:c.205A>G, XM_024453746.2:c.205A>G, XM_024453746.1:c.205A>G, XM_024453747.2:c.205A>G, XM_024453747.1:c.205A>G, NM_024621.2:c.205A>G, NM_001167912.2:c.205A>G, NM_001167912.1:c.205A>G, XM_024453748.2:c.205A>G, XM_024453748.1:c.205A>G, NM_001167911.2:c.205A>G, NM_001167911.1:c.205A>G, XM_024453749.2:c.205A>G, XM_024453749.1:c.205A>G, XM_024453750.2:c.205A>G, XM_024453750.1:c.205A>G, XM_047448921.1:c.205A>G, XM_047448923.1:c.-132A>G, XM_047448922.1:c.205A>G, XM_047448924.1:c.-132A>G, XM_047448926.1:c.-132A>G, XM_047448927.1:c.-132A>G, XM_047448925.1:c.-132A>G, XM_047448930.1:c.205A>G, XM_047448929.1:c.205A>G, XM_047448928.1:c.205A>G, XM_047448931.1:c.205A>G, NM_001167917.1:c.205A>G, XP_011511436.1:p.Ile80Val, XP_011511437.1:p.Ile24Val, NP_001161387.1:p.Ile69Val, NP_001161388.1:p.Ile69Val, XP_024309514.1:p.Ile69Val, XP_024309515.1:p.Ile69Val, NP_078897.2:p.Ile69Val, NP_001161384.1:p.Ile69Val, XP_024309516.1:p.Ile69Val, NP_001161383.1:p.Ile69Val, XP_024309517.1:p.Ile69Val, XP_024309518.1:p.Ile69Val, XP_047304877.1:p.Ile69Val, XP_047304878.1:p.Ile69Val, XP_047304886.1:p.Ile69Val, XP_047304885.1:p.Ile69Val, XP_047304884.1:p.Ile69Val, XP_047304887.1:p.Ile69Val, NP_001161389.1:p.Ile69Val

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