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Items: 1 to 20 of 620

1.

rs1490537588 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    5:169594658 (GRCh38)
    5:169021662 (GRCh37)
    Canonical SPDI:
    NC_000005.10:169594657:A:G
    Gene:
    SPDL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000047/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.169594658A>G, NC_000005.9:g.169021662A>G, NG_051238.1:g.16025A>G, NM_017785.5:c.868A>G, NM_017785.4:c.868A>G, NM_001329642.2:c.655A>G, NM_001329642.1:c.655A>G, NM_001329639.2:c.868A>G, NM_001329639.1:c.868A>G, NM_001329640.2:c.868A>G, NM_001329640.1:c.868A>G, NM_001329643.2:c.655A>G, NM_001329643.1:c.655A>G, NM_001329641.2:c.868A>G, NM_001329641.1:c.868A>G, XM_011534587.3:c.868A>G, XM_011534587.2:c.868A>G, XM_011534587.1:c.868A>G, XM_011534588.3:c.868A>G, XM_011534588.2:c.868A>G, XM_011534588.1:c.868A>G, XM_011534589.3:c.868A>G, XM_011534589.2:c.868A>G, XM_011534589.1:c.868A>G, XM_047417347.1:c.655A>G, XM_047417344.1:c.868A>G, XM_047417345.1:c.868A>G, XM_047417346.1:c.868A>G, NP_060255.3:p.Arg290Gly, NP_001316571.1:p.Arg219Gly, NP_001316568.1:p.Arg290Gly, NP_001316569.1:p.Arg290Gly, NP_001316572.1:p.Arg219Gly, NP_001316570.1:p.Arg290Gly, XP_011532889.1:p.Arg290Gly, XP_011532890.1:p.Arg290Gly, XP_011532891.1:p.Arg290Gly, XP_047273303.1:p.Arg219Gly, XP_047273300.1:p.Arg290Gly, XP_047273301.1:p.Arg290Gly, XP_047273302.1:p.Arg290Gly

    2.

    rs1490207348 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:169593514 (GRCh38)
      5:169020518 (GRCh37)
      Canonical SPDI:
      NC_000005.10:169593513:T:C
      Gene:
      SPDL1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      HGVS:
      NC_000005.10:g.169593514T>C, NC_000005.9:g.169020518T>C, NG_051238.1:g.14881T>C, NM_017785.5:c.497T>C, NM_017785.4:c.497T>C, NM_001329642.2:c.284T>C, NM_001329642.1:c.284T>C, NM_001329639.2:c.497T>C, NM_001329639.1:c.497T>C, NM_001329640.2:c.497T>C, NM_001329640.1:c.497T>C, NM_001329643.2:c.284T>C, NM_001329643.1:c.284T>C, NM_001329641.2:c.497T>C, NM_001329641.1:c.497T>C, XM_011534587.3:c.497T>C, XM_011534587.2:c.497T>C, XM_011534587.1:c.497T>C, XM_011534588.3:c.497T>C, XM_011534588.2:c.497T>C, XM_011534588.1:c.497T>C, XM_011534589.3:c.497T>C, XM_011534589.2:c.497T>C, XM_011534589.1:c.497T>C, XM_047417347.1:c.284T>C, XM_047417344.1:c.497T>C, XM_047417345.1:c.497T>C, XM_047417346.1:c.497T>C, NP_060255.3:p.Leu166Pro, NP_001316571.1:p.Leu95Pro, NP_001316568.1:p.Leu166Pro, NP_001316569.1:p.Leu166Pro, NP_001316572.1:p.Leu95Pro, NP_001316570.1:p.Leu166Pro, XP_011532889.1:p.Leu166Pro, XP_011532890.1:p.Leu166Pro, XP_011532891.1:p.Leu166Pro, XP_047273303.1:p.Leu95Pro, XP_047273300.1:p.Leu166Pro, XP_047273301.1:p.Leu166Pro, XP_047273302.1:p.Leu166Pro

      3.

      rs1489695701 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        5:169593375 (GRCh38)
        5:169020379 (GRCh37)
        Canonical SPDI:
        NC_000005.10:169593374:T:C
        Gene:
        SPDL1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000028/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1488562792 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:169599159 (GRCh38)
          5:169026163 (GRCh37)
          Canonical SPDI:
          NC_000005.10:169599158:G:A
          Gene:
          SPDL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000005.10:g.169599159G>A, NC_000005.9:g.169026163G>A, NG_051238.1:g.20526G>A, NM_017785.5:c.1324G>A, NM_017785.4:c.1324G>A, NM_001329642.2:c.1111G>A, NM_001329642.1:c.1111G>A, NM_001329639.2:c.1324G>A, NM_001329639.1:c.1324G>A, NM_001329640.2:c.1324G>A, NM_001329640.1:c.1324G>A, NM_001329643.2:c.1111G>A, NM_001329643.1:c.1111G>A, NM_001329641.2:c.1324G>A, NM_001329641.1:c.1324G>A, XM_011534587.3:c.1324G>A, XM_011534587.2:c.1324G>A, XM_011534587.1:c.1324G>A, XM_011534588.3:c.1324G>A, XM_011534588.2:c.1324G>A, XM_011534588.1:c.1324G>A, XM_011534589.3:c.1324G>A, XM_011534589.2:c.1324G>A, XM_011534589.1:c.1324G>A, XM_047417347.1:c.1111G>A, XM_047417344.1:c.1324G>A, XM_047417345.1:c.1324G>A, XM_047417346.1:c.1324G>A, NP_060255.3:p.Glu442Lys, NP_001316571.1:p.Glu371Lys, NP_001316568.1:p.Glu442Lys, NP_001316569.1:p.Glu442Lys, NP_001316572.1:p.Glu371Lys, NP_001316570.1:p.Glu442Lys, XP_011532889.1:p.Glu442Lys, XP_011532890.1:p.Glu442Lys, XP_011532891.1:p.Glu442Lys, XP_047273303.1:p.Glu371Lys, XP_047273300.1:p.Glu442Lys, XP_047273301.1:p.Glu442Lys, XP_047273302.1:p.Glu442Lys

          5.

          rs1487654927 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:169601476 (GRCh38)
            5:169028480 (GRCh37)
            Canonical SPDI:
            NC_000005.10:169601475:A:G
            Gene:
            SPDL1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.169601476A>G, NC_000005.9:g.169028480A>G, NG_051238.1:g.22843A>G, NM_017785.5:c.1521A>G, NM_017785.4:c.1521A>G, NM_001329642.2:c.1308A>G, NM_001329642.1:c.1308A>G, NM_001329639.2:c.1521A>G, NM_001329639.1:c.1521A>G, NM_001329640.2:c.1521A>G, NM_001329640.1:c.1521A>G, NM_001329643.2:c.1308A>G, NM_001329643.1:c.1308A>G, NM_001329641.2:c.1521A>G, NM_001329641.1:c.1521A>G, XM_011534587.3:c.1521A>G, XM_011534587.2:c.1521A>G, XM_011534587.1:c.1521A>G, XM_011534588.3:c.1521A>G, XM_011534588.2:c.1521A>G, XM_011534588.1:c.1521A>G, XM_011534589.3:c.1521A>G, XM_011534589.2:c.1521A>G, XM_011534589.1:c.1521A>G, XM_047417347.1:c.1308A>G, XM_047417344.1:c.1521A>G, XM_047417345.1:c.1521A>G, XM_047417346.1:c.1521A>G, NP_060255.3:p.Ile507Met, NP_001316571.1:p.Ile436Met, NP_001316568.1:p.Ile507Met, NP_001316569.1:p.Ile507Met, NP_001316572.1:p.Ile436Met, NP_001316570.1:p.Ile507Met, XP_011532889.1:p.Ile507Met, XP_011532890.1:p.Ile507Met, XP_011532891.1:p.Ile507Met, XP_047273303.1:p.Ile436Met, XP_047273300.1:p.Ile507Met, XP_047273301.1:p.Ile507Met, XP_047273302.1:p.Ile507Met

            6.

            rs1484013491 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:169594169 (GRCh38)
              5:169021173 (GRCh37)
              Canonical SPDI:
              NC_000005.10:169594168:G:A
              Gene:
              SPDL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.169594169G>A, NC_000005.9:g.169021173G>A, NG_051238.1:g.15536G>A, NM_017785.5:c.556G>A, NM_017785.4:c.556G>A, NM_001329642.2:c.343G>A, NM_001329642.1:c.343G>A, NM_001329639.2:c.556G>A, NM_001329639.1:c.556G>A, NM_001329640.2:c.556G>A, NM_001329640.1:c.556G>A, NM_001329643.2:c.343G>A, NM_001329643.1:c.343G>A, NM_001329641.2:c.556G>A, NM_001329641.1:c.556G>A, XM_011534587.3:c.556G>A, XM_011534587.2:c.556G>A, XM_011534587.1:c.556G>A, XM_011534588.3:c.556G>A, XM_011534588.2:c.556G>A, XM_011534588.1:c.556G>A, XM_011534589.3:c.556G>A, XM_011534589.2:c.556G>A, XM_011534589.1:c.556G>A, XM_047417347.1:c.343G>A, XM_047417344.1:c.556G>A, XM_047417345.1:c.556G>A, XM_047417346.1:c.556G>A, NP_060255.3:p.Glu186Lys, NP_001316571.1:p.Glu115Lys, NP_001316568.1:p.Glu186Lys, NP_001316569.1:p.Glu186Lys, NP_001316572.1:p.Glu115Lys, NP_001316570.1:p.Glu186Lys, XP_011532889.1:p.Glu186Lys, XP_011532890.1:p.Glu186Lys, XP_011532891.1:p.Glu186Lys, XP_047273303.1:p.Glu115Lys, XP_047273300.1:p.Glu186Lys, XP_047273301.1:p.Glu186Lys, XP_047273302.1:p.Glu186Lys

              7.

              rs1480781549 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:169594583 (GRCh38)
                5:169021587 (GRCh37)
                Canonical SPDI:
                NC_000005.10:169594582:A:G
                Gene:
                SPDL1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000005.10:g.169594583A>G, NC_000005.9:g.169021587A>G, NG_051238.1:g.15950A>G, NM_017785.5:c.793A>G, NM_017785.4:c.793A>G, NM_001329642.2:c.580A>G, NM_001329642.1:c.580A>G, NM_001329639.2:c.793A>G, NM_001329639.1:c.793A>G, NM_001329640.2:c.793A>G, NM_001329640.1:c.793A>G, NM_001329643.2:c.580A>G, NM_001329643.1:c.580A>G, NM_001329641.2:c.793A>G, NM_001329641.1:c.793A>G, XM_011534587.3:c.793A>G, XM_011534587.2:c.793A>G, XM_011534587.1:c.793A>G, XM_011534588.3:c.793A>G, XM_011534588.2:c.793A>G, XM_011534588.1:c.793A>G, XM_011534589.3:c.793A>G, XM_011534589.2:c.793A>G, XM_011534589.1:c.793A>G, XM_047417347.1:c.580A>G, XM_047417344.1:c.793A>G, XM_047417345.1:c.793A>G, XM_047417346.1:c.793A>G, NP_060255.3:p.Arg265Gly, NP_001316571.1:p.Arg194Gly, NP_001316568.1:p.Arg265Gly, NP_001316569.1:p.Arg265Gly, NP_001316572.1:p.Arg194Gly, NP_001316570.1:p.Arg265Gly, XP_011532889.1:p.Arg265Gly, XP_011532890.1:p.Arg265Gly, XP_011532891.1:p.Arg265Gly, XP_047273303.1:p.Arg194Gly, XP_047273300.1:p.Arg265Gly, XP_047273301.1:p.Arg265Gly, XP_047273302.1:p.Arg265Gly

                8.

                rs1480207022 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:169596669 (GRCh38)
                  5:169023673 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:169596668:T:C
                  Gene:
                  SPDL1 (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)
                  HGVS:

                  9.

                  rs1479359456 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    5:169594163 (GRCh38)
                    5:169021167 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:169594162:G:
                    Gene:
                    SPDL1 (Varview)
                    Functional Consequence:
                    stop_gained,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000005.10:g.169594163del, NC_000005.9:g.169021167del, NG_051238.1:g.15530del, NM_017785.5:c.550del, NM_017785.4:c.550del, NM_001329642.2:c.337del, NM_001329642.1:c.337del, NM_001329639.2:c.550del, NM_001329639.1:c.550del, NM_001329640.2:c.550del, NM_001329640.1:c.550del, NM_001329643.2:c.337del, NM_001329643.1:c.337del, NM_001329641.2:c.550del, NM_001329641.1:c.550del, XM_011534587.3:c.550del, XM_011534587.2:c.550del, XM_011534587.1:c.550del, XM_011534588.3:c.550del, XM_011534588.2:c.550del, XM_011534588.1:c.550del, XM_011534589.3:c.550del, XM_011534589.2:c.550del, XM_011534589.1:c.550del, XM_047417347.1:c.337del, XM_047417344.1:c.550del, XM_047417345.1:c.550del, XM_047417346.1:c.550del, NP_060255.3:p.Glu183_Val184insTer, NP_001316571.1:p.Glu112_Val113insTer, NP_001316568.1:p.Glu183_Val184insTer, NP_001316569.1:p.Glu183_Val184insTer, NP_001316572.1:p.Glu112_Val113insTer, NP_001316570.1:p.Glu183_Val184insTer, XP_011532889.1:p.Glu183_Val184insTer, XP_011532890.1:p.Glu183_Val184insTer, XP_011532891.1:p.Glu183_Val184insTer, XP_047273303.1:p.Glu112_Val113insTer, XP_047273300.1:p.Glu183_Val184insTer, XP_047273301.1:p.Glu183_Val184insTer, XP_047273302.1:p.Glu183_Val184insTer

                    10.

                    rs1478531789 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      5:169591078 (GRCh38)
                      5:169018082 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:169591077:A:C,NC_000005.10:169591077:A:G
                      Gene:
                      SPDL1 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.169591078A>C, NC_000005.10:g.169591078A>G, NC_000005.9:g.169018082A>C, NC_000005.9:g.169018082A>G, NG_051238.1:g.12445A>C, NG_051238.1:g.12445A>G, NM_017785.5:c.190A>C, NM_017785.5:c.190A>G, NM_017785.4:c.190A>C, NM_017785.4:c.190A>G, NM_001329642.2:c.-24A>C, NM_001329642.2:c.-24A>G, NM_001329642.1:c.-24A>C, NM_001329642.1:c.-24A>G, NM_001329639.2:c.190A>C, NM_001329639.2:c.190A>G, NM_001329639.1:c.190A>C, NM_001329639.1:c.190A>G, NM_001329640.2:c.190A>C, NM_001329640.2:c.190A>G, NM_001329640.1:c.190A>C, NM_001329640.1:c.190A>G, NM_001329643.2:c.-24A>C, NM_001329643.2:c.-24A>G, NM_001329643.1:c.-24A>C, NM_001329643.1:c.-24A>G, NM_001329641.2:c.190A>C, NM_001329641.2:c.190A>G, NM_001329641.1:c.190A>C, NM_001329641.1:c.190A>G, XM_011534587.3:c.190A>C, XM_011534587.3:c.190A>G, XM_011534587.2:c.190A>C, XM_011534587.2:c.190A>G, XM_011534587.1:c.190A>C, XM_011534587.1:c.190A>G, XM_011534588.3:c.190A>C, XM_011534588.3:c.190A>G, XM_011534588.2:c.190A>C, XM_011534588.2:c.190A>G, XM_011534588.1:c.190A>C, XM_011534588.1:c.190A>G, XM_011534589.3:c.190A>C, XM_011534589.3:c.190A>G, XM_011534589.2:c.190A>C, XM_011534589.2:c.190A>G, XM_011534589.1:c.190A>C, XM_011534589.1:c.190A>G, XM_047417347.1:c.-24A>C, XM_047417347.1:c.-24A>G, XM_047417344.1:c.190A>C, XM_047417344.1:c.190A>G, XM_047417345.1:c.190A>C, XM_047417345.1:c.190A>G, XM_047417346.1:c.190A>C, XM_047417346.1:c.190A>G, NP_060255.3:p.Arg64Gly, NP_001316568.1:p.Arg64Gly, NP_001316569.1:p.Arg64Gly, NP_001316570.1:p.Arg64Gly, XP_011532889.1:p.Arg64Gly, XP_011532890.1:p.Arg64Gly, XP_011532891.1:p.Arg64Gly, XP_047273300.1:p.Arg64Gly, XP_047273301.1:p.Arg64Gly, XP_047273302.1:p.Arg64Gly

                      11.

                      rs1477802419 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        5:169594666 (GRCh38)
                        5:169021670 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:169594665:G:C
                        Gene:
                        SPDL1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000005.10:g.169594666G>C, NC_000005.9:g.169021670G>C, NG_051238.1:g.16033G>C, NM_017785.5:c.876G>C, NM_017785.4:c.876G>C, NM_001329642.2:c.663G>C, NM_001329642.1:c.663G>C, NM_001329639.2:c.876G>C, NM_001329639.1:c.876G>C, NM_001329640.2:c.876G>C, NM_001329640.1:c.876G>C, NM_001329643.2:c.663G>C, NM_001329643.1:c.663G>C, NM_001329641.2:c.876G>C, NM_001329641.1:c.876G>C, XM_011534587.3:c.876G>C, XM_011534587.2:c.876G>C, XM_011534587.1:c.876G>C, XM_011534588.3:c.876G>C, XM_011534588.2:c.876G>C, XM_011534588.1:c.876G>C, XM_011534589.3:c.876G>C, XM_011534589.2:c.876G>C, XM_011534589.1:c.876G>C, XM_047417347.1:c.663G>C, XM_047417344.1:c.876G>C, XM_047417345.1:c.876G>C, XM_047417346.1:c.876G>C, NP_060255.3:p.Gln292His, NP_001316571.1:p.Gln221His, NP_001316568.1:p.Gln292His, NP_001316569.1:p.Gln292His, NP_001316572.1:p.Gln221His, NP_001316570.1:p.Gln292His, XP_011532889.1:p.Gln292His, XP_011532890.1:p.Gln292His, XP_011532891.1:p.Gln292His, XP_047273303.1:p.Gln221His, XP_047273300.1:p.Gln292His, XP_047273301.1:p.Gln292His, XP_047273302.1:p.Gln292His

                        12.

                        rs1476882570 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          5:169601416 (GRCh38)
                          5:169028420 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:169601415:A:T
                          Gene:
                          SPDL1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1475487778 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            5:169596591 (GRCh38)
                            5:169023595 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:169596590:GGG:GG
                            Gene:
                            SPDL1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.169596593del, NC_000005.9:g.169023597del, NG_051238.1:g.17960del, NM_017785.5:c.924del, NM_017785.4:c.924del, NM_001329642.2:c.711del, NM_001329642.1:c.711del, NM_001329639.2:c.924del, NM_001329639.1:c.924del, NM_001329640.2:c.924del, NM_001329640.1:c.924del, NM_001329643.2:c.711del, NM_001329643.1:c.711del, NM_001329641.2:c.924del, NM_001329641.1:c.924del, XM_011534587.3:c.924del, XM_011534587.2:c.924del, XM_011534587.1:c.924del, XM_011534588.3:c.924del, XM_011534588.2:c.924del, XM_011534588.1:c.924del, XM_011534589.3:c.924del, XM_011534589.2:c.924del, XM_011534589.1:c.924del, XM_047417347.1:c.711del, XM_047417344.1:c.924del, XM_047417345.1:c.924del, XM_047417346.1:c.924del, NP_060255.3:p.Ser309fs, NP_001316571.1:p.Ser238fs, NP_001316568.1:p.Ser309fs, NP_001316569.1:p.Ser309fs, NP_001316572.1:p.Ser238fs, NP_001316570.1:p.Ser309fs, XP_011532889.1:p.Ser309fs, XP_011532890.1:p.Ser309fs, XP_011532891.1:p.Ser309fs, XP_047273303.1:p.Ser238fs, XP_047273300.1:p.Ser309fs, XP_047273301.1:p.Ser309fs, XP_047273302.1:p.Ser309fs

                            14.

                            rs1475417934 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              5:169601362 (GRCh38)
                              5:169028366 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:169601361:C:A,NC_000005.10:169601361:C:T
                              Gene:
                              SPDL1 (Varview)
                              Functional Consequence:
                              synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000005.10:g.169601362C>A, NC_000005.10:g.169601362C>T, NC_000005.9:g.169028366C>A, NC_000005.9:g.169028366C>T, NG_051238.1:g.22729C>A, NG_051238.1:g.22729C>T, NM_017785.5:c.1407C>A, NM_017785.5:c.1407C>T, NM_017785.4:c.1407C>A, NM_017785.4:c.1407C>T, NM_001329642.2:c.1194C>A, NM_001329642.2:c.1194C>T, NM_001329642.1:c.1194C>A, NM_001329642.1:c.1194C>T, NM_001329639.2:c.1407C>A, NM_001329639.2:c.1407C>T, NM_001329639.1:c.1407C>A, NM_001329639.1:c.1407C>T, NM_001329640.2:c.1407C>A, NM_001329640.2:c.1407C>T, NM_001329640.1:c.1407C>A, NM_001329640.1:c.1407C>T, NM_001329643.2:c.1194C>A, NM_001329643.2:c.1194C>T, NM_001329643.1:c.1194C>A, NM_001329643.1:c.1194C>T, NM_001329641.2:c.1407C>A, NM_001329641.2:c.1407C>T, NM_001329641.1:c.1407C>A, NM_001329641.1:c.1407C>T, XM_011534587.3:c.1407C>A, XM_011534587.3:c.1407C>T, XM_011534587.2:c.1407C>A, XM_011534587.2:c.1407C>T, XM_011534587.1:c.1407C>A, XM_011534587.1:c.1407C>T, XM_011534588.3:c.1407C>A, XM_011534588.3:c.1407C>T, XM_011534588.2:c.1407C>A, XM_011534588.2:c.1407C>T, XM_011534588.1:c.1407C>A, XM_011534588.1:c.1407C>T, XM_011534589.3:c.1407C>A, XM_011534589.3:c.1407C>T, XM_011534589.2:c.1407C>A, XM_011534589.2:c.1407C>T, XM_011534589.1:c.1407C>A, XM_011534589.1:c.1407C>T, XM_047417347.1:c.1194C>A, XM_047417347.1:c.1194C>T, XM_047417344.1:c.1407C>A, XM_047417344.1:c.1407C>T, XM_047417345.1:c.1407C>A, XM_047417345.1:c.1407C>T, XM_047417346.1:c.1407C>A, XM_047417346.1:c.1407C>T, NP_060255.3:p.Asn469Lys, NP_001316571.1:p.Asn398Lys, NP_001316568.1:p.Asn469Lys, NP_001316569.1:p.Asn469Lys, NP_001316572.1:p.Asn398Lys, NP_001316570.1:p.Asn469Lys, XP_011532889.1:p.Asn469Lys, XP_011532890.1:p.Asn469Lys, XP_011532891.1:p.Asn469Lys, XP_047273303.1:p.Asn398Lys, XP_047273300.1:p.Asn469Lys, XP_047273301.1:p.Asn469Lys, XP_047273302.1:p.Asn469Lys

                              15.

                              rs1473896675 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                5:169588534 (GRCh38)
                                5:169015538 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:169588533:C:T
                                Gene:
                                SPDL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000047/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.169588534C>T, NC_000005.9:g.169015538C>T, NG_051238.1:g.9901C>T, NM_017785.5:c.118C>T, NM_017785.4:c.118C>T, NM_001329642.2:c.-170C>T, NM_001329642.1:c.-170C>T, NM_001329639.2:c.118C>T, NM_001329639.1:c.118C>T, NM_001329640.2:c.118C>T, NM_001329640.1:c.118C>T, NM_001329643.2:c.-173C>T, NM_001329643.1:c.-173C>T, NM_001329641.2:c.118C>T, NM_001329641.1:c.118C>T, XM_011534587.3:c.118C>T, XM_011534587.2:c.118C>T, XM_011534587.1:c.118C>T, XM_011534588.3:c.118C>T, XM_011534588.2:c.118C>T, XM_011534588.1:c.118C>T, XM_011534589.3:c.118C>T, XM_011534589.2:c.118C>T, XM_011534589.1:c.118C>T, XM_047417344.1:c.118C>T, XM_047417345.1:c.118C>T, XM_047417346.1:c.118C>T, NP_060255.3:p.Gln40Ter, NP_001316568.1:p.Gln40Ter, NP_001316569.1:p.Gln40Ter, NP_001316570.1:p.Gln40Ter, XP_011532889.1:p.Gln40Ter, XP_011532890.1:p.Gln40Ter, XP_011532891.1:p.Gln40Ter, XP_047273300.1:p.Gln40Ter, XP_047273301.1:p.Gln40Ter, XP_047273302.1:p.Gln40Ter

                                16.

                                rs1473418140 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAG>- [Show Flanks]
                                  Chromosome:
                                  5:169594253 (GRCh38)
                                  5:169021257 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:169594249:GAGGAG:GAG
                                  Gene:
                                  SPDL1 (Varview)
                                  Functional Consequence:
                                  inframe_deletion,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GAGGAG=0.000071/1 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.169594250GAG[1], NC_000005.9:g.169021254GAG[1], NG_051238.1:g.15617GAG[1], NM_017785.5:c.637GAG[1], NM_017785.4:c.637GAG[1], NM_001329642.2:c.424GAG[1], NM_001329642.1:c.424GAG[1], NM_001329639.2:c.637GAG[1], NM_001329639.1:c.637GAG[1], NM_001329640.2:c.637GAG[1], NM_001329640.1:c.637GAG[1], NM_001329643.2:c.424GAG[1], NM_001329643.1:c.424GAG[1], NM_001329641.2:c.637GAG[1], NM_001329641.1:c.637GAG[1], XM_011534587.3:c.637GAG[1], XM_011534587.2:c.637GAG[1], XM_011534587.1:c.637GAG[1], XM_011534588.3:c.637GAG[1], XM_011534588.2:c.637GAG[1], XM_011534588.1:c.637GAG[1], XM_011534589.3:c.637GAG[1], XM_011534589.2:c.637GAG[1], XM_011534589.1:c.637GAG[1], XM_047417347.1:c.424GAG[1], XM_047417344.1:c.637GAG[1], XM_047417345.1:c.637GAG[1], XM_047417346.1:c.637GAG[1], NP_060255.3:p.Glu214del, NP_001316571.1:p.Glu143del, NP_001316568.1:p.Glu214del, NP_001316569.1:p.Glu214del, NP_001316572.1:p.Glu143del, NP_001316570.1:p.Glu214del, XP_011532889.1:p.Glu214del, XP_011532890.1:p.Glu214del, XP_011532891.1:p.Glu214del, XP_047273303.1:p.Glu143del, XP_047273300.1:p.Glu214del, XP_047273301.1:p.Glu214del, XP_047273302.1:p.Glu214del

                                  17.

                                  rs1470544947 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    5:169598989 (GRCh38)
                                    5:169025993 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:169598988:C:G
                                    Gene:
                                    SPDL1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000005.10:g.169598989C>G, NC_000005.9:g.169025993C>G, NG_051238.1:g.20356C>G, NM_017785.5:c.1154C>G, NM_017785.4:c.1154C>G, NM_001329642.2:c.941C>G, NM_001329642.1:c.941C>G, NM_001329639.2:c.1154C>G, NM_001329639.1:c.1154C>G, NM_001329640.2:c.1154C>G, NM_001329640.1:c.1154C>G, NM_001329643.2:c.941C>G, NM_001329643.1:c.941C>G, NM_001329641.2:c.1154C>G, NM_001329641.1:c.1154C>G, XM_011534587.3:c.1154C>G, XM_011534587.2:c.1154C>G, XM_011534587.1:c.1154C>G, XM_011534588.3:c.1154C>G, XM_011534588.2:c.1154C>G, XM_011534588.1:c.1154C>G, XM_011534589.3:c.1154C>G, XM_011534589.2:c.1154C>G, XM_011534589.1:c.1154C>G, XM_047417347.1:c.941C>G, XM_047417344.1:c.1154C>G, XM_047417345.1:c.1154C>G, XM_047417346.1:c.1154C>G, NP_060255.3:p.Thr385Ser, NP_001316571.1:p.Thr314Ser, NP_001316568.1:p.Thr385Ser, NP_001316569.1:p.Thr385Ser, NP_001316572.1:p.Thr314Ser, NP_001316570.1:p.Thr385Ser, XP_011532889.1:p.Thr385Ser, XP_011532890.1:p.Thr385Ser, XP_011532891.1:p.Thr385Ser, XP_047273303.1:p.Thr314Ser, XP_047273300.1:p.Thr385Ser, XP_047273301.1:p.Thr385Ser, XP_047273302.1:p.Thr385Ser

                                    18.

                                    rs1469659438 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:169594591 (GRCh38)
                                      5:169021595 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:169594590:A:G
                                      Gene:
                                      SPDL1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1469458068 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        5:169593394 (GRCh38)
                                        5:169020398 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:169593393:G:C
                                        Gene:
                                        SPDL1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.169593394G>C, NC_000005.9:g.169020398G>C, NG_051238.1:g.14761G>C, NM_017785.5:c.377G>C, NM_017785.4:c.377G>C, NM_001329642.2:c.164G>C, NM_001329642.1:c.164G>C, NM_001329639.2:c.377G>C, NM_001329639.1:c.377G>C, NM_001329640.2:c.377G>C, NM_001329640.1:c.377G>C, NM_001329643.2:c.164G>C, NM_001329643.1:c.164G>C, NM_001329641.2:c.377G>C, NM_001329641.1:c.377G>C, XM_011534587.3:c.377G>C, XM_011534587.2:c.377G>C, XM_011534587.1:c.377G>C, XM_011534588.3:c.377G>C, XM_011534588.2:c.377G>C, XM_011534588.1:c.377G>C, XM_011534589.3:c.377G>C, XM_011534589.2:c.377G>C, XM_011534589.1:c.377G>C, XM_047417347.1:c.164G>C, XM_047417344.1:c.377G>C, XM_047417345.1:c.377G>C, XM_047417346.1:c.377G>C, NP_060255.3:p.Ser126Thr, NP_001316571.1:p.Ser55Thr, NP_001316568.1:p.Ser126Thr, NP_001316569.1:p.Ser126Thr, NP_001316572.1:p.Ser55Thr, NP_001316570.1:p.Ser126Thr, XP_011532889.1:p.Ser126Thr, XP_011532890.1:p.Ser126Thr, XP_011532891.1:p.Ser126Thr, XP_047273303.1:p.Ser55Thr, XP_047273300.1:p.Ser126Thr, XP_047273301.1:p.Ser126Thr, XP_047273302.1:p.Ser126Thr

                                        20.

                                        rs1469179189 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:169588567 (GRCh38)
                                          5:169015571 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:169588566:A:G
                                          Gene:
                                          SPDL1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000005.10:g.169588567A>G, NC_000005.9:g.169015571A>G, NG_051238.1:g.9934A>G, NM_017785.5:c.151A>G, NM_017785.4:c.151A>G, NM_001329642.2:c.-137A>G, NM_001329642.1:c.-137A>G, NM_001329639.2:c.151A>G, NM_001329639.1:c.151A>G, NM_001329640.2:c.151A>G, NM_001329640.1:c.151A>G, NM_001329643.2:c.-140A>G, NM_001329643.1:c.-140A>G, NM_001329641.2:c.151A>G, NM_001329641.1:c.151A>G, XM_011534587.3:c.151A>G, XM_011534587.2:c.151A>G, XM_011534587.1:c.151A>G, XM_011534588.3:c.151A>G, XM_011534588.2:c.151A>G, XM_011534588.1:c.151A>G, XM_011534589.3:c.151A>G, XM_011534589.2:c.151A>G, XM_011534589.1:c.151A>G, XM_047417344.1:c.151A>G, XM_047417345.1:c.151A>G, XM_047417346.1:c.151A>G, NP_060255.3:p.Met51Val, NP_001316568.1:p.Met51Val, NP_001316569.1:p.Met51Val, NP_001316570.1:p.Met51Val, XP_011532889.1:p.Met51Val, XP_011532890.1:p.Met51Val, XP_011532891.1:p.Met51Val, XP_047273300.1:p.Met51Val, XP_047273301.1:p.Met51Val, XP_047273302.1:p.Met51Val

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