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Items: 1 to 20 of 688

1.

rs1489841362 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    5:150649598 (GRCh38)
    5:150029160 (GRCh37)
    Canonical SPDI:
    NC_000005.10:150649597:C:G,NC_000005.10:150649597:C:T
    Gene:
    SYNPO (Varview)
    Functional Consequence:
    synonymous_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.150649598C>G, NC_000005.10:g.150649598C>T, NC_000005.9:g.150029160C>G, NC_000005.9:g.150029160C>T, NM_007286.6:c.1323C>G, NM_007286.6:c.1323C>T, NM_007286.5:c.1323C>G, NM_007286.5:c.1323C>T, XM_006714755.4:c.2055C>G, XM_006714755.4:c.2055C>T, XM_006714755.3:c.2055C>G, XM_006714755.3:c.2055C>T, XM_006714755.2:c.2055C>G, XM_006714755.2:c.2055C>T, XM_006714755.1:c.2055C>G, XM_006714755.1:c.2055C>T, NM_001109974.3:c.1323C>G, NM_001109974.3:c.1323C>T, NM_001109974.2:c.1323C>G, NM_001109974.2:c.1323C>T, NM_001166208.2:c.2055C>G, NM_001166208.2:c.2055C>T, NM_001166208.1:c.2055C>G, NM_001166208.1:c.2055C>T, NM_001166209.2:c.2055C>G, NM_001166209.2:c.2055C>T, NM_001166209.1:c.2055C>G, NM_001166209.1:c.2055C>T, XM_024454351.2:c.1323C>G, XM_024454351.2:c.1323C>T, XM_024454351.1:c.1323C>G, XM_024454351.1:c.1323C>T, XM_017009008.2:c.2055C>G, XM_017009008.2:c.2055C>T, XM_017009008.1:c.2055C>G, XM_017009008.1:c.2055C>T, XM_005268371.2:c.1323C>G, XM_005268371.2:c.1323C>T, XM_005268371.1:c.1323C>G, XM_005268371.1:c.1323C>T, XM_047416685.1:c.2055C>G, XM_047416685.1:c.2055C>T, XM_047416686.1:c.2055C>G, XM_047416686.1:c.2055C>T, XM_047416687.1:c.2055C>G, XM_047416687.1:c.2055C>T, XM_047416684.1:c.2055C>G, XM_047416684.1:c.2055C>T, XM_047416688.1:c.2055C>G, XM_047416688.1:c.2055C>T, XM_047416689.1:c.2055C>G, XM_047416689.1:c.2055C>T, NP_009217.3:p.Ser441Arg, XP_006714818.1:p.Ser685Arg, NP_001103444.1:p.Ser441Arg, NP_001159680.1:p.Ser685Arg, NP_001159681.1:p.Ser685Arg, XP_024310119.2:p.Ser441Arg, XP_016864497.1:p.Ser685Arg, XP_005268428.1:p.Ser441Arg, XP_047272641.1:p.Ser685Arg, XP_047272642.1:p.Ser685Arg, XP_047272643.1:p.Ser685Arg, XP_047272640.1:p.Ser685Arg, XP_047272644.1:p.Ser685Arg, XP_047272645.1:p.Ser685Arg

    2.

    rs1486556860 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      5:150649997 (GRCh38)
      5:150029559 (GRCh37)
      Canonical SPDI:
      NC_000005.10:150649996:C:G
      Gene:
      SYNPO (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1485478137 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:150649548 (GRCh38)
        5:150029110 (GRCh37)
        Canonical SPDI:
        NC_000005.10:150649547:G:A
        Gene:
        SYNPO (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        HGVS:
        NC_000005.10:g.150649548G>A, NC_000005.9:g.150029110G>A, NM_007286.6:c.1273G>A, NM_007286.5:c.1273G>A, XM_006714755.4:c.2005G>A, XM_006714755.3:c.2005G>A, XM_006714755.2:c.2005G>A, XM_006714755.1:c.2005G>A, NM_001109974.3:c.1273G>A, NM_001109974.2:c.1273G>A, NM_001166208.2:c.2005G>A, NM_001166208.1:c.2005G>A, NM_001166209.2:c.2005G>A, NM_001166209.1:c.2005G>A, XM_024454351.2:c.1273G>A, XM_024454351.1:c.1273G>A, XM_017009008.2:c.2005G>A, XM_017009008.1:c.2005G>A, XM_005268371.2:c.1273G>A, XM_005268371.1:c.1273G>A, XM_047416685.1:c.2005G>A, XM_047416686.1:c.2005G>A, XM_047416687.1:c.2005G>A, XM_047416684.1:c.2005G>A, XM_047416688.1:c.2005G>A, XM_047416689.1:c.2005G>A, NP_009217.3:p.Ala425Thr, XP_006714818.1:p.Ala669Thr, NP_001103444.1:p.Ala425Thr, NP_001159680.1:p.Ala669Thr, NP_001159681.1:p.Ala669Thr, XP_024310119.2:p.Ala425Thr, XP_016864497.1:p.Ala669Thr, XP_005268428.1:p.Ala425Thr, XP_047272641.1:p.Ala669Thr, XP_047272642.1:p.Ala669Thr, XP_047272643.1:p.Ala669Thr, XP_047272640.1:p.Ala669Thr, XP_047272644.1:p.Ala669Thr, XP_047272645.1:p.Ala669Thr

        4.

        rs1483670108 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:150649298 (GRCh38)
          5:150028860 (GRCh37)
          Canonical SPDI:
          NC_000005.10:150649297:T:C
          Gene:
          SYNPO (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (GnomAD_exomes)
          C=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1483531062 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            5:150650186 (GRCh38)
            5:150029748 (GRCh37)
            Canonical SPDI:
            NC_000005.10:150650185:G:A,NC_000005.10:150650185:G:C
            Gene:
            SYNPO (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.00003/1 (ALFA)
            HGVS:
            NC_000005.10:g.150650186G>A, NC_000005.10:g.150650186G>C, NC_000005.9:g.150029748G>A, NC_000005.9:g.150029748G>C, NM_007286.6:c.1911G>A, NM_007286.6:c.1911G>C, NM_007286.5:c.1911G>A, NM_007286.5:c.1911G>C, XM_006714755.4:c.2643G>A, XM_006714755.4:c.2643G>C, XM_006714755.3:c.2643G>A, XM_006714755.3:c.2643G>C, XM_006714755.2:c.2643G>A, XM_006714755.2:c.2643G>C, XM_006714755.1:c.2643G>A, XM_006714755.1:c.2643G>C, NM_001109974.3:c.1911G>A, NM_001109974.3:c.1911G>C, NM_001109974.2:c.1911G>A, NM_001109974.2:c.1911G>C, NM_001166208.2:c.2643G>A, NM_001166208.2:c.2643G>C, NM_001166208.1:c.2643G>A, NM_001166208.1:c.2643G>C, NM_001166209.2:c.2643G>A, NM_001166209.2:c.2643G>C, NM_001166209.1:c.2643G>A, NM_001166209.1:c.2643G>C, XM_024454351.2:c.1911G>A, XM_024454351.2:c.1911G>C, XM_024454351.1:c.1911G>A, XM_024454351.1:c.1911G>C, XM_017009008.2:c.2643G>A, XM_017009008.2:c.2643G>C, XM_017009008.1:c.2643G>A, XM_017009008.1:c.2643G>C, XM_005268371.2:c.1911G>A, XM_005268371.2:c.1911G>C, XM_005268371.1:c.1911G>A, XM_005268371.1:c.1911G>C, XM_047416685.1:c.2643G>A, XM_047416685.1:c.2643G>C, XM_047416686.1:c.2643G>A, XM_047416686.1:c.2643G>C, XM_047416687.1:c.2643G>A, XM_047416687.1:c.2643G>C, XM_047416684.1:c.2643G>A, XM_047416684.1:c.2643G>C, XM_047416688.1:c.2643G>A, XM_047416688.1:c.2643G>C, XM_047416689.1:c.2643G>A, XM_047416689.1:c.2643G>C

            6.

            rs1481708490 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:150649142 (GRCh38)
              5:150028704 (GRCh37)
              Canonical SPDI:
              NC_000005.10:150649141:G:A
              Gene:
              SYNPO (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000047/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.150649142G>A, NC_000005.9:g.150028704G>A, NM_007286.6:c.867G>A, NM_007286.5:c.867G>A, XM_006714755.4:c.1599G>A, XM_006714755.3:c.1599G>A, XM_006714755.2:c.1599G>A, XM_006714755.1:c.1599G>A, NM_001109974.3:c.867G>A, NM_001109974.2:c.867G>A, NM_001166208.2:c.1599G>A, NM_001166208.1:c.1599G>A, NM_001166209.2:c.1599G>A, NM_001166209.1:c.1599G>A, XM_024454351.2:c.867G>A, XM_024454351.1:c.867G>A, XM_017009008.2:c.1599G>A, XM_017009008.1:c.1599G>A, XM_005268371.2:c.867G>A, XM_005268371.1:c.867G>A, XM_047416685.1:c.1599G>A, XM_047416686.1:c.1599G>A, XM_047416687.1:c.1599G>A, XM_047416684.1:c.1599G>A, XM_047416688.1:c.1599G>A, XM_047416689.1:c.1599G>A, NP_009217.3:p.Met289Ile, XP_006714818.1:p.Met533Ile, NP_001103444.1:p.Met289Ile, NP_001159680.1:p.Met533Ile, NP_001159681.1:p.Met533Ile, XP_024310119.2:p.Met289Ile, XP_016864497.1:p.Met533Ile, XP_005268428.1:p.Met289Ile, XP_047272641.1:p.Met533Ile, XP_047272642.1:p.Met533Ile, XP_047272643.1:p.Met533Ile, XP_047272640.1:p.Met533Ile, XP_047272644.1:p.Met533Ile, XP_047272645.1:p.Met533Ile

              7.

              rs1481524056 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:150649791 (GRCh38)
                5:150029353 (GRCh37)
                Canonical SPDI:
                NC_000005.10:150649790:G:A
                Gene:
                SYNPO (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000005.10:g.150649791G>A, NC_000005.9:g.150029353G>A, NM_007286.6:c.1516G>A, NM_007286.5:c.1516G>A, XM_006714755.4:c.2248G>A, XM_006714755.3:c.2248G>A, XM_006714755.2:c.2248G>A, XM_006714755.1:c.2248G>A, NM_001109974.3:c.1516G>A, NM_001109974.2:c.1516G>A, NM_001166208.2:c.2248G>A, NM_001166208.1:c.2248G>A, NM_001166209.2:c.2248G>A, NM_001166209.1:c.2248G>A, XM_024454351.2:c.1516G>A, XM_024454351.1:c.1516G>A, XM_017009008.2:c.2248G>A, XM_017009008.1:c.2248G>A, XM_005268371.2:c.1516G>A, XM_005268371.1:c.1516G>A, XM_047416685.1:c.2248G>A, XM_047416686.1:c.2248G>A, XM_047416687.1:c.2248G>A, XM_047416684.1:c.2248G>A, XM_047416688.1:c.2248G>A, XM_047416689.1:c.2248G>A, NP_009217.3:p.Ala506Thr, XP_006714818.1:p.Ala750Thr, NP_001103444.1:p.Ala506Thr, NP_001159680.1:p.Ala750Thr, NP_001159681.1:p.Ala750Thr, XP_024310119.2:p.Ala506Thr, XP_016864497.1:p.Ala750Thr, XP_005268428.1:p.Ala506Thr, XP_047272641.1:p.Ala750Thr, XP_047272642.1:p.Ala750Thr, XP_047272643.1:p.Ala750Thr, XP_047272640.1:p.Ala750Thr, XP_047272644.1:p.Ala750Thr, XP_047272645.1:p.Ala750Thr

                8.

                rs1481419099 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  5:150650264 (GRCh38)
                  5:150029826 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:150650263:G:T
                  Gene:
                  SYNPO (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.150650264G>T, NC_000005.9:g.150029826G>T, NM_007286.6:c.1989G>T, NM_007286.5:c.1989G>T, XM_006714755.4:c.2721G>T, XM_006714755.3:c.2721G>T, XM_006714755.2:c.2721G>T, XM_006714755.1:c.2721G>T, NM_001109974.3:c.1989G>T, NM_001109974.2:c.1989G>T, NM_001166208.2:c.2721G>T, NM_001166208.1:c.2721G>T, NM_001166209.2:c.2721G>T, NM_001166209.1:c.2721G>T, XM_024454351.2:c.1989G>T, XM_024454351.1:c.1989G>T, XM_017009008.2:c.2721G>T, XM_017009008.1:c.2721G>T, XM_005268371.2:c.1989G>T, XM_005268371.1:c.1989G>T, XM_047416685.1:c.2721G>T, XM_047416686.1:c.2721G>T, XM_047416687.1:c.2721G>T, XM_047416684.1:c.2721G>T, XM_047416688.1:c.2721G>T, XM_047416689.1:c.2721G>T, NP_009217.3:p.Arg663Ser, XP_006714818.1:p.Arg907Ser, NP_001103444.1:p.Arg663Ser, NP_001159680.1:p.Arg907Ser, NP_001159681.1:p.Arg907Ser, XP_024310119.2:p.Arg663Ser, XP_016864497.1:p.Arg907Ser, XP_005268428.1:p.Arg663Ser, XP_047272641.1:p.Arg907Ser, XP_047272642.1:p.Arg907Ser, XP_047272643.1:p.Arg907Ser, XP_047272640.1:p.Arg907Ser, XP_047272644.1:p.Arg907Ser, XP_047272645.1:p.Arg907Ser

                  9.

                  rs1481390371 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:150649604 (GRCh38)
                    5:150029166 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:150649603:G:A
                    Gene:
                    SYNPO (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1477276650 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      5:150650078 (GRCh38)
                      5:150029640 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:150650077:C:G,NC_000005.10:150650077:C:T
                      Gene:
                      SYNPO (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.150650078C>G, NC_000005.10:g.150650078C>T, NC_000005.9:g.150029640C>G, NC_000005.9:g.150029640C>T, NM_007286.6:c.1803C>G, NM_007286.6:c.1803C>T, NM_007286.5:c.1803C>G, NM_007286.5:c.1803C>T, XM_006714755.4:c.2535C>G, XM_006714755.4:c.2535C>T, XM_006714755.3:c.2535C>G, XM_006714755.3:c.2535C>T, XM_006714755.2:c.2535C>G, XM_006714755.2:c.2535C>T, XM_006714755.1:c.2535C>G, XM_006714755.1:c.2535C>T, NM_001109974.3:c.1803C>G, NM_001109974.3:c.1803C>T, NM_001109974.2:c.1803C>G, NM_001109974.2:c.1803C>T, NM_001166208.2:c.2535C>G, NM_001166208.2:c.2535C>T, NM_001166208.1:c.2535C>G, NM_001166208.1:c.2535C>T, NM_001166209.2:c.2535C>G, NM_001166209.2:c.2535C>T, NM_001166209.1:c.2535C>G, NM_001166209.1:c.2535C>T, XM_024454351.2:c.1803C>G, XM_024454351.2:c.1803C>T, XM_024454351.1:c.1803C>G, XM_024454351.1:c.1803C>T, XM_017009008.2:c.2535C>G, XM_017009008.2:c.2535C>T, XM_017009008.1:c.2535C>G, XM_017009008.1:c.2535C>T, XM_005268371.2:c.1803C>G, XM_005268371.2:c.1803C>T, XM_005268371.1:c.1803C>G, XM_005268371.1:c.1803C>T, XM_047416685.1:c.2535C>G, XM_047416685.1:c.2535C>T, XM_047416686.1:c.2535C>G, XM_047416686.1:c.2535C>T, XM_047416687.1:c.2535C>G, XM_047416687.1:c.2535C>T, XM_047416684.1:c.2535C>G, XM_047416684.1:c.2535C>T, XM_047416688.1:c.2535C>G, XM_047416688.1:c.2535C>T, XM_047416689.1:c.2535C>G, XM_047416689.1:c.2535C>T, NP_009217.3:p.Asn601Lys, XP_006714818.1:p.Asn845Lys, NP_001103444.1:p.Asn601Lys, NP_001159680.1:p.Asn845Lys, NP_001159681.1:p.Asn845Lys, XP_024310119.2:p.Asn601Lys, XP_016864497.1:p.Asn845Lys, XP_005268428.1:p.Asn601Lys, XP_047272641.1:p.Asn845Lys, XP_047272642.1:p.Asn845Lys, XP_047272643.1:p.Asn845Lys, XP_047272640.1:p.Asn845Lys, XP_047272644.1:p.Asn845Lys, XP_047272645.1:p.Asn845Lys

                      11.

                      rs1472991871 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:150649226 (GRCh38)
                        5:150028788 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:150649225:A:G
                        Gene:
                        SYNPO (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000047/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1472790842 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:150650242 (GRCh38)
                          5:150029804 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:150650241:C:T
                          Gene:
                          SYNPO (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000005.10:g.150650242C>T, NC_000005.9:g.150029804C>T, NM_007286.6:c.1967C>T, NM_007286.5:c.1967C>T, XM_006714755.4:c.2699C>T, XM_006714755.3:c.2699C>T, XM_006714755.2:c.2699C>T, XM_006714755.1:c.2699C>T, NM_001109974.3:c.1967C>T, NM_001109974.2:c.1967C>T, NM_001166208.2:c.2699C>T, NM_001166208.1:c.2699C>T, NM_001166209.2:c.2699C>T, NM_001166209.1:c.2699C>T, XM_024454351.2:c.1967C>T, XM_024454351.1:c.1967C>T, XM_017009008.2:c.2699C>T, XM_017009008.1:c.2699C>T, XM_005268371.2:c.1967C>T, XM_005268371.1:c.1967C>T, XM_047416685.1:c.2699C>T, XM_047416686.1:c.2699C>T, XM_047416687.1:c.2699C>T, XM_047416684.1:c.2699C>T, XM_047416688.1:c.2699C>T, XM_047416689.1:c.2699C>T, NP_009217.3:p.Pro656Leu, XP_006714818.1:p.Pro900Leu, NP_001103444.1:p.Pro656Leu, NP_001159680.1:p.Pro900Leu, NP_001159681.1:p.Pro900Leu, XP_024310119.2:p.Pro656Leu, XP_016864497.1:p.Pro900Leu, XP_005268428.1:p.Pro656Leu, XP_047272641.1:p.Pro900Leu, XP_047272642.1:p.Pro900Leu, XP_047272643.1:p.Pro900Leu, XP_047272640.1:p.Pro900Leu, XP_047272644.1:p.Pro900Leu, XP_047272645.1:p.Pro900Leu

                          13.

                          rs1471406177 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:150649728 (GRCh38)
                            5:150029290 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:150649727:G:A
                            Gene:
                            SYNPO (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            NC_000005.10:g.150649728G>A, NC_000005.9:g.150029290G>A, NM_007286.6:c.1453G>A, NM_007286.5:c.1453G>A, XM_006714755.4:c.2185G>A, XM_006714755.3:c.2185G>A, XM_006714755.2:c.2185G>A, XM_006714755.1:c.2185G>A, NM_001109974.3:c.1453G>A, NM_001109974.2:c.1453G>A, NM_001166208.2:c.2185G>A, NM_001166208.1:c.2185G>A, NM_001166209.2:c.2185G>A, NM_001166209.1:c.2185G>A, XM_024454351.2:c.1453G>A, XM_024454351.1:c.1453G>A, XM_017009008.2:c.2185G>A, XM_017009008.1:c.2185G>A, XM_005268371.2:c.1453G>A, XM_005268371.1:c.1453G>A, XM_047416685.1:c.2185G>A, XM_047416686.1:c.2185G>A, XM_047416687.1:c.2185G>A, XM_047416684.1:c.2185G>A, XM_047416688.1:c.2185G>A, XM_047416689.1:c.2185G>A, NP_009217.3:p.Ala485Thr, XP_006714818.1:p.Ala729Thr, NP_001103444.1:p.Ala485Thr, NP_001159680.1:p.Ala729Thr, NP_001159681.1:p.Ala729Thr, XP_024310119.2:p.Ala485Thr, XP_016864497.1:p.Ala729Thr, XP_005268428.1:p.Ala485Thr, XP_047272641.1:p.Ala729Thr, XP_047272642.1:p.Ala729Thr, XP_047272643.1:p.Ala729Thr, XP_047272640.1:p.Ala729Thr, XP_047272644.1:p.Ala729Thr, XP_047272645.1:p.Ala729Thr

                            14.

                            rs1471093058 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:150649712 (GRCh38)
                              5:150029274 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:150649711:G:A
                              Gene:
                              SYNPO (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              HGVS:

                              15.

                              rs1470644199 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:150649864 (GRCh38)
                                5:150029426 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:150649863:G:A
                                Gene:
                                SYNPO (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000005.10:g.150649864G>A, NC_000005.9:g.150029426G>A, NM_007286.6:c.1589G>A, NM_007286.5:c.1589G>A, XM_006714755.4:c.2321G>A, XM_006714755.3:c.2321G>A, XM_006714755.2:c.2321G>A, XM_006714755.1:c.2321G>A, NM_001109974.3:c.1589G>A, NM_001109974.2:c.1589G>A, NM_001166208.2:c.2321G>A, NM_001166208.1:c.2321G>A, NM_001166209.2:c.2321G>A, NM_001166209.1:c.2321G>A, XM_024454351.2:c.1589G>A, XM_024454351.1:c.1589G>A, XM_017009008.2:c.2321G>A, XM_017009008.1:c.2321G>A, XM_005268371.2:c.1589G>A, XM_005268371.1:c.1589G>A, XM_047416685.1:c.2321G>A, XM_047416686.1:c.2321G>A, XM_047416687.1:c.2321G>A, XM_047416684.1:c.2321G>A, XM_047416688.1:c.2321G>A, XM_047416689.1:c.2321G>A, NP_009217.3:p.Arg530Gln, XP_006714818.1:p.Arg774Gln, NP_001103444.1:p.Arg530Gln, NP_001159680.1:p.Arg774Gln, NP_001159681.1:p.Arg774Gln, XP_024310119.2:p.Arg530Gln, XP_016864497.1:p.Arg774Gln, XP_005268428.1:p.Arg530Gln, XP_047272641.1:p.Arg774Gln, XP_047272642.1:p.Arg774Gln, XP_047272643.1:p.Arg774Gln, XP_047272640.1:p.Arg774Gln, XP_047272644.1:p.Arg774Gln, XP_047272645.1:p.Arg774Gln

                                16.

                                rs1464796596 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:150650083 (GRCh38)
                                  5:150029645 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:150650082:C:T
                                  Gene:
                                  SYNPO (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  likely-pathogenic
                                  Validated:
                                  by cluster
                                  HGVS:
                                  NC_000005.10:g.150650083C>T, NC_000005.9:g.150029645C>T, NM_007286.6:c.1808C>T, NM_007286.5:c.1808C>T, XM_006714755.4:c.2540C>T, XM_006714755.3:c.2540C>T, XM_006714755.2:c.2540C>T, XM_006714755.1:c.2540C>T, NM_001109974.3:c.1808C>T, NM_001109974.2:c.1808C>T, NM_001166208.2:c.2540C>T, NM_001166208.1:c.2540C>T, NM_001166209.2:c.2540C>T, NM_001166209.1:c.2540C>T, XM_024454351.2:c.1808C>T, XM_024454351.1:c.1808C>T, XM_017009008.2:c.2540C>T, XM_017009008.1:c.2540C>T, XM_005268371.2:c.1808C>T, XM_005268371.1:c.1808C>T, XM_047416685.1:c.2540C>T, XM_047416686.1:c.2540C>T, XM_047416687.1:c.2540C>T, XM_047416684.1:c.2540C>T, XM_047416688.1:c.2540C>T, XM_047416689.1:c.2540C>T, NP_009217.3:p.Pro603Leu, XP_006714818.1:p.Pro847Leu, NP_001103444.1:p.Pro603Leu, NP_001159680.1:p.Pro847Leu, NP_001159681.1:p.Pro847Leu, XP_024310119.2:p.Pro603Leu, XP_016864497.1:p.Pro847Leu, XP_005268428.1:p.Pro603Leu, XP_047272641.1:p.Pro847Leu, XP_047272642.1:p.Pro847Leu, XP_047272643.1:p.Pro847Leu, XP_047272640.1:p.Pro847Leu, XP_047272644.1:p.Pro847Leu, XP_047272645.1:p.Pro847Leu

                                  17.

                                  rs1461499563 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    5:150649668 (GRCh38)
                                    5:150029230 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:150649667:C:A,NC_000005.10:150649667:C:G
                                    Gene:
                                    SYNPO (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000005.10:g.150649668C>A, NC_000005.10:g.150649668C>G, NC_000005.9:g.150029230C>A, NC_000005.9:g.150029230C>G, NM_007286.6:c.1393C>A, NM_007286.6:c.1393C>G, NM_007286.5:c.1393C>A, NM_007286.5:c.1393C>G, XM_006714755.4:c.2125C>A, XM_006714755.4:c.2125C>G, XM_006714755.3:c.2125C>A, XM_006714755.3:c.2125C>G, XM_006714755.2:c.2125C>A, XM_006714755.2:c.2125C>G, XM_006714755.1:c.2125C>A, XM_006714755.1:c.2125C>G, NM_001109974.3:c.1393C>A, NM_001109974.3:c.1393C>G, NM_001109974.2:c.1393C>A, NM_001109974.2:c.1393C>G, NM_001166208.2:c.2125C>A, NM_001166208.2:c.2125C>G, NM_001166208.1:c.2125C>A, NM_001166208.1:c.2125C>G, NM_001166209.2:c.2125C>A, NM_001166209.2:c.2125C>G, NM_001166209.1:c.2125C>A, NM_001166209.1:c.2125C>G, XM_024454351.2:c.1393C>A, XM_024454351.2:c.1393C>G, XM_024454351.1:c.1393C>A, XM_024454351.1:c.1393C>G, XM_017009008.2:c.2125C>A, XM_017009008.2:c.2125C>G, XM_017009008.1:c.2125C>A, XM_017009008.1:c.2125C>G, XM_005268371.2:c.1393C>A, XM_005268371.2:c.1393C>G, XM_005268371.1:c.1393C>A, XM_005268371.1:c.1393C>G, XM_047416685.1:c.2125C>A, XM_047416685.1:c.2125C>G, XM_047416686.1:c.2125C>A, XM_047416686.1:c.2125C>G, XM_047416687.1:c.2125C>A, XM_047416687.1:c.2125C>G, XM_047416684.1:c.2125C>A, XM_047416684.1:c.2125C>G, XM_047416688.1:c.2125C>A, XM_047416688.1:c.2125C>G, XM_047416689.1:c.2125C>A, XM_047416689.1:c.2125C>G, NP_009217.3:p.Pro465Thr, NP_009217.3:p.Pro465Ala, XP_006714818.1:p.Pro709Thr, XP_006714818.1:p.Pro709Ala, NP_001103444.1:p.Pro465Thr, NP_001103444.1:p.Pro465Ala, NP_001159680.1:p.Pro709Thr, NP_001159680.1:p.Pro709Ala, NP_001159681.1:p.Pro709Thr, NP_001159681.1:p.Pro709Ala, XP_024310119.2:p.Pro465Thr, XP_024310119.2:p.Pro465Ala, XP_016864497.1:p.Pro709Thr, XP_016864497.1:p.Pro709Ala, XP_005268428.1:p.Pro465Thr, XP_005268428.1:p.Pro465Ala, XP_047272641.1:p.Pro709Thr, XP_047272641.1:p.Pro709Ala, XP_047272642.1:p.Pro709Thr, XP_047272642.1:p.Pro709Ala, XP_047272643.1:p.Pro709Thr, XP_047272643.1:p.Pro709Ala, XP_047272640.1:p.Pro709Thr, XP_047272640.1:p.Pro709Ala, XP_047272644.1:p.Pro709Thr, XP_047272644.1:p.Pro709Ala, XP_047272645.1:p.Pro709Thr, XP_047272645.1:p.Pro709Ala

                                    18.

                                    rs1460598685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:150649072 (GRCh38)
                                      5:150028634 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:150649071:G:A
                                      Gene:
                                      SYNPO (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.150649072G>A, NC_000005.9:g.150028634G>A, NM_007286.6:c.797G>A, NM_007286.5:c.797G>A, XM_006714755.4:c.1529G>A, XM_006714755.3:c.1529G>A, XM_006714755.2:c.1529G>A, XM_006714755.1:c.1529G>A, NM_001109974.3:c.797G>A, NM_001109974.2:c.797G>A, NM_001166208.2:c.1529G>A, NM_001166208.1:c.1529G>A, NM_001166209.2:c.1529G>A, NM_001166209.1:c.1529G>A, XM_024454351.2:c.797G>A, XM_024454351.1:c.797G>A, XM_017009008.2:c.1529G>A, XM_017009008.1:c.1529G>A, XM_005268371.2:c.797G>A, XM_005268371.1:c.797G>A, XM_047416685.1:c.1529G>A, XM_047416686.1:c.1529G>A, XM_047416687.1:c.1529G>A, XM_047416684.1:c.1529G>A, XM_047416688.1:c.1529G>A, XM_047416689.1:c.1529G>A, NP_009217.3:p.Gly266Glu, XP_006714818.1:p.Gly510Glu, NP_001103444.1:p.Gly266Glu, NP_001159680.1:p.Gly510Glu, NP_001159681.1:p.Gly510Glu, XP_024310119.2:p.Gly266Glu, XP_016864497.1:p.Gly510Glu, XP_005268428.1:p.Gly266Glu, XP_047272641.1:p.Gly510Glu, XP_047272642.1:p.Gly510Glu, XP_047272643.1:p.Gly510Glu, XP_047272640.1:p.Gly510Glu, XP_047272644.1:p.Gly510Glu, XP_047272645.1:p.Gly510Glu

                                      19.

                                      rs1459590884 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        5:150648999 (GRCh38)
                                        5:150028561 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:150648998:C:A
                                        Gene:
                                        SYNPO (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000005.10:g.150648999C>A, NC_000005.9:g.150028561C>A, NM_007286.6:c.724C>A, NM_007286.5:c.724C>A, XM_006714755.4:c.1456C>A, XM_006714755.3:c.1456C>A, XM_006714755.2:c.1456C>A, XM_006714755.1:c.1456C>A, NM_001109974.3:c.724C>A, NM_001109974.2:c.724C>A, NM_001166208.2:c.1456C>A, NM_001166208.1:c.1456C>A, NM_001166209.2:c.1456C>A, NM_001166209.1:c.1456C>A, XM_024454351.2:c.724C>A, XM_024454351.1:c.724C>A, XM_017009008.2:c.1456C>A, XM_017009008.1:c.1456C>A, XM_005268371.2:c.724C>A, XM_005268371.1:c.724C>A, XM_047416685.1:c.1456C>A, XM_047416686.1:c.1456C>A, XM_047416687.1:c.1456C>A, XM_047416684.1:c.1456C>A, XM_047416688.1:c.1456C>A, XM_047416689.1:c.1456C>A, NP_009217.3:p.Pro242Thr, XP_006714818.1:p.Pro486Thr, NP_001103444.1:p.Pro242Thr, NP_001159680.1:p.Pro486Thr, NP_001159681.1:p.Pro486Thr, XP_024310119.2:p.Pro242Thr, XP_016864497.1:p.Pro486Thr, XP_005268428.1:p.Pro242Thr, XP_047272641.1:p.Pro486Thr, XP_047272642.1:p.Pro486Thr, XP_047272643.1:p.Pro486Thr, XP_047272640.1:p.Pro486Thr, XP_047272644.1:p.Pro486Thr, XP_047272645.1:p.Pro486Thr

                                        20.

                                        rs1458454460 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:150648826 (GRCh38)
                                          5:150028388 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:150648825:C:T
                                          Gene:
                                          SYNPO (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.150648826C>T, NC_000005.9:g.150028388C>T, NM_007286.6:c.551C>T, NM_007286.5:c.551C>T, XM_006714755.4:c.1283C>T, XM_006714755.3:c.1283C>T, XM_006714755.2:c.1283C>T, XM_006714755.1:c.1283C>T, NM_001109974.3:c.551C>T, NM_001109974.2:c.551C>T, NM_001166208.2:c.1283C>T, NM_001166208.1:c.1283C>T, NM_001166209.2:c.1283C>T, NM_001166209.1:c.1283C>T, XM_024454351.2:c.551C>T, XM_024454351.1:c.551C>T, XM_017009008.2:c.1283C>T, XM_017009008.1:c.1283C>T, XM_005268371.2:c.551C>T, XM_005268371.1:c.551C>T, XM_047416685.1:c.1283C>T, XM_047416686.1:c.1283C>T, XM_047416687.1:c.1283C>T, XM_047416684.1:c.1283C>T, XM_047416688.1:c.1283C>T, XM_047416689.1:c.1283C>T, NP_009217.3:p.Ala184Val, XP_006714818.1:p.Ala428Val, NP_001103444.1:p.Ala184Val, NP_001159680.1:p.Ala428Val, NP_001159681.1:p.Ala428Val, XP_024310119.2:p.Ala184Val, XP_016864497.1:p.Ala428Val, XP_005268428.1:p.Ala184Val, XP_047272641.1:p.Ala428Val, XP_047272642.1:p.Ala428Val, XP_047272643.1:p.Ala428Val, XP_047272640.1:p.Ala428Val, XP_047272644.1:p.Ala428Val, XP_047272645.1:p.Ala428Val

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