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Items: 1 to 20 of 331

1.

rs1489489894 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    13:19751347 (GRCh38)
    13:20325487 (GRCh37)
    Canonical SPDI:
    NC_000013.11:19751346:G:A
    Gene:
    PSPC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    NC_000013.11:g.19751347G>A, NC_000013.10:g.20325487G>A, NG_029751.2:g.36673C>T, NM_001042414.4:c.891C>T, NM_001042414.3:c.891C>T, NM_001042414.2:c.891C>T, NR_003272.4:n.1079C>T, NR_003272.3:n.1170C>T, NR_003272.2:n.1153C>T, NR_044998.3:n.1079C>T, NR_044998.2:n.1170C>T, NR_044998.1:n.1153C>T, NM_001363660.2:c.891C>T, NM_001363660.1:c.891C>T, NR_149052.2:n.1079C>T, NR_149052.1:n.1170C>T, NM_001354909.2:c.891C>T, NM_001354909.1:c.891C>T, NR_149053.2:n.1079C>T, NR_149053.1:n.1170C>T, NM_001354908.2:c.891C>T, NM_001354908.1:c.891C>T, NR_156729.2:n.1079C>T, NR_156729.1:n.1170C>T, XM_011535142.4:c.891C>T, XM_011535142.3:c.891C>T, XM_011535142.2:c.891C>T, XM_011535142.1:c.891C>T, XM_011535138.4:c.891C>T, XM_011535138.3:c.891C>T, XM_011535138.2:c.891C>T, XM_011535138.1:c.891C>T, XM_011535141.4:c.891C>T, XM_011535141.3:c.891C>T, XM_011535141.2:c.891C>T, XM_011535141.1:c.891C>T, XM_011535139.3:c.891C>T, XM_011535139.2:c.891C>T, XM_011535139.1:c.891C>T, XR_941617.3:n.1079C>T, XR_941617.2:n.1077C>T, XR_941617.1:n.1140C>T, NM_018282.2:c.891C>T, XR_007063689.1:n.1079C>T, XR_007063688.1:n.1079C>T, XM_047430435.1:c.891C>T, NM_018282.1:c.783C>T

    2.

    rs1478448246 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      13:19782553 (GRCh38)
      13:20356693 (GRCh37)
      Canonical SPDI:
      NC_000013.11:19782552:T:C,NC_000013.11:19782552:T:G
      Gene:
      PSPC1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000008/2 (GnomAD_exomes)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000013.11:g.19782553T>C, NC_000013.11:g.19782553T>G, NC_000013.10:g.20356693T>C, NC_000013.10:g.20356693T>G, NG_029751.2:g.5467A>G, NG_029751.2:g.5467A>C, NM_001042414.4:c.205A>G, NM_001042414.4:c.205A>C, NM_001042414.3:c.205A>G, NM_001042414.3:c.205A>C, NM_001042414.2:c.205A>G, NM_001042414.2:c.205A>C, NR_003272.4:n.393A>G, NR_003272.4:n.393A>C, NR_003272.3:n.484A>G, NR_003272.3:n.484A>C, NR_003272.2:n.467A>G, NR_003272.2:n.467A>C, NR_044998.3:n.393A>G, NR_044998.3:n.393A>C, NR_044998.2:n.484A>G, NR_044998.2:n.484A>C, NR_044998.1:n.467A>G, NR_044998.1:n.467A>C, NM_001363660.2:c.205A>G, NM_001363660.2:c.205A>C, NM_001363660.1:c.205A>G, NM_001363660.1:c.205A>C, NR_149052.2:n.393A>G, NR_149052.2:n.393A>C, NR_149052.1:n.484A>G, NR_149052.1:n.484A>C, NM_001354909.2:c.205A>G, NM_001354909.2:c.205A>C, NM_001354909.1:c.205A>G, NM_001354909.1:c.205A>C, NR_149053.2:n.393A>G, NR_149053.2:n.393A>C, NR_149053.1:n.484A>G, NR_149053.1:n.484A>C, NM_001354908.2:c.205A>G, NM_001354908.2:c.205A>C, NM_001354908.1:c.205A>G, NM_001354908.1:c.205A>C, NR_156729.2:n.393A>G, NR_156729.2:n.393A>C, NR_156729.1:n.484A>G, NR_156729.1:n.484A>C, XM_011535142.4:c.205A>G, XM_011535142.4:c.205A>C, XM_011535142.3:c.205A>G, XM_011535142.3:c.205A>C, XM_011535142.2:c.205A>G, XM_011535142.2:c.205A>C, XM_011535142.1:c.205A>G, XM_011535142.1:c.205A>C, XM_011535138.4:c.205A>G, XM_011535138.4:c.205A>C, XM_011535138.3:c.205A>G, XM_011535138.3:c.205A>C, XM_011535138.2:c.205A>G, XM_011535138.2:c.205A>C, XM_011535138.1:c.205A>G, XM_011535138.1:c.205A>C, XM_011535141.4:c.205A>G, XM_011535141.4:c.205A>C, XM_011535141.3:c.205A>G, XM_011535141.3:c.205A>C, XM_011535141.2:c.205A>G, XM_011535141.2:c.205A>C, XM_011535141.1:c.205A>G, XM_011535141.1:c.205A>C, XM_011535139.3:c.205A>G, XM_011535139.3:c.205A>C, XM_011535139.2:c.205A>G, XM_011535139.2:c.205A>C, XM_011535139.1:c.205A>G, XM_011535139.1:c.205A>C, XR_941617.3:n.393A>G, XR_941617.3:n.393A>C, XR_941617.2:n.391A>G, XR_941617.2:n.391A>C, XR_941617.1:n.454A>G, XR_941617.1:n.454A>C, NM_018282.2:c.205A>G, NM_018282.2:c.205A>C, XR_007063689.1:n.393A>G, XR_007063689.1:n.393A>C, XR_007063688.1:n.393A>G, XR_007063688.1:n.393A>C, XM_047430435.1:c.205A>G, XM_047430435.1:c.205A>C, NM_018282.1:c.97A>G, NM_018282.1:c.97A>C, NP_001035879.1:p.Ser69Gly, NP_001035879.1:p.Ser69Arg, NP_001350589.1:p.Ser69Gly, NP_001350589.1:p.Ser69Arg, NP_001341838.1:p.Ser69Gly, NP_001341838.1:p.Ser69Arg, NP_001341837.1:p.Ser69Gly, NP_001341837.1:p.Ser69Arg, XP_011533444.1:p.Ser69Gly, XP_011533444.1:p.Ser69Arg, XP_011533440.1:p.Ser69Gly, XP_011533440.1:p.Ser69Arg, XP_011533443.1:p.Ser69Gly, XP_011533443.1:p.Ser69Arg, XP_011533441.1:p.Ser69Gly, XP_011533441.1:p.Ser69Arg, XP_047286391.1:p.Ser69Gly, XP_047286391.1:p.Ser69Arg

      3.

      rs1477996692 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        13:19726662 (GRCh38)
        13:20300802 (GRCh37)
        Canonical SPDI:
        NC_000013.11:19726661:C:A
        Gene:
        PSPC1 (Varview)
        Functional Consequence:
        intron_variant,stop_lost,terminator_codon_variant,downstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1476974236 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:19751314 (GRCh38)
          13:20325454 (GRCh37)
          Canonical SPDI:
          NC_000013.11:19751313:C:T
          Gene:
          PSPC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000039/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000013.11:g.19751314C>T, NC_000013.10:g.20325454C>T, NG_029751.2:g.36706G>A, NM_001042414.4:c.924G>A, NM_001042414.3:c.924G>A, NM_001042414.2:c.924G>A, NR_003272.4:n.1112G>A, NR_003272.3:n.1203G>A, NR_003272.2:n.1186G>A, NR_044998.3:n.1112G>A, NR_044998.2:n.1203G>A, NR_044998.1:n.1186G>A, NM_001363660.2:c.924G>A, NM_001363660.1:c.924G>A, NR_149052.2:n.1112G>A, NR_149052.1:n.1203G>A, NM_001354909.2:c.924G>A, NM_001354909.1:c.924G>A, NR_149053.2:n.1112G>A, NR_149053.1:n.1203G>A, NM_001354908.2:c.924G>A, NM_001354908.1:c.924G>A, NR_156729.2:n.1112G>A, NR_156729.1:n.1203G>A, XM_011535142.4:c.924G>A, XM_011535142.3:c.924G>A, XM_011535142.2:c.924G>A, XM_011535142.1:c.924G>A, XM_011535138.4:c.924G>A, XM_011535138.3:c.924G>A, XM_011535138.2:c.924G>A, XM_011535138.1:c.924G>A, XM_011535141.4:c.924G>A, XM_011535141.3:c.924G>A, XM_011535141.2:c.924G>A, XM_011535141.1:c.924G>A, XM_011535139.3:c.924G>A, XM_011535139.2:c.924G>A, XM_011535139.1:c.924G>A, XR_941617.3:n.1112G>A, XR_941617.2:n.1110G>A, XR_941617.1:n.1173G>A, NM_018282.2:c.924G>A, XR_007063689.1:n.1112G>A, XR_007063688.1:n.1112G>A, XM_047430435.1:c.924G>A, NM_018282.1:c.816G>A, NP_001035879.1:p.Met308Ile, NP_001350589.1:p.Met308Ile, NP_001341838.1:p.Met308Ile, NP_001341837.1:p.Met308Ile, XP_011533444.1:p.Met308Ile, XP_011533440.1:p.Met308Ile, XP_011533443.1:p.Met308Ile, XP_011533441.1:p.Met308Ile, XP_047286391.1:p.Met308Ile

          5.

          rs1469948405 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            13:19772468 (GRCh38)
            13:20346608 (GRCh37)
            Canonical SPDI:
            NC_000013.11:19772467:G:A
            Gene:
            PSPC1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000013.11:g.19772468G>A, NC_000013.10:g.20346608G>A, NG_029751.2:g.15552C>T, NM_001042414.4:c.448C>T, NM_001042414.3:c.448C>T, NM_001042414.2:c.448C>T, NR_003272.4:n.636C>T, NR_003272.3:n.727C>T, NR_003272.2:n.710C>T, NR_044998.3:n.636C>T, NR_044998.2:n.727C>T, NR_044998.1:n.710C>T, NM_001363660.2:c.448C>T, NM_001363660.1:c.448C>T, NR_149052.2:n.636C>T, NR_149052.1:n.727C>T, NM_001354909.2:c.448C>T, NM_001354909.1:c.448C>T, NR_149053.2:n.636C>T, NR_149053.1:n.727C>T, NM_001354908.2:c.448C>T, NM_001354908.1:c.448C>T, NR_156729.2:n.636C>T, NR_156729.1:n.727C>T, XM_011535142.4:c.448C>T, XM_011535142.3:c.448C>T, XM_011535142.2:c.448C>T, XM_011535142.1:c.448C>T, XM_011535138.4:c.448C>T, XM_011535138.3:c.448C>T, XM_011535138.2:c.448C>T, XM_011535138.1:c.448C>T, XM_011535141.4:c.448C>T, XM_011535141.3:c.448C>T, XM_011535141.2:c.448C>T, XM_011535141.1:c.448C>T, XM_011535139.3:c.448C>T, XM_011535139.2:c.448C>T, XM_011535139.1:c.448C>T, XR_941617.3:n.636C>T, XR_941617.2:n.634C>T, XR_941617.1:n.697C>T, NM_018282.2:c.448C>T, XR_007063689.1:n.636C>T, XR_007063688.1:n.636C>T, XM_047430435.1:c.448C>T, NM_018282.1:c.340C>T, NP_001035879.1:p.Arg150Cys, NP_001350589.1:p.Arg150Cys, NP_001341838.1:p.Arg150Cys, NP_001341837.1:p.Arg150Cys, XP_011533444.1:p.Arg150Cys, XP_011533440.1:p.Arg150Cys, XP_011533443.1:p.Arg150Cys, XP_011533441.1:p.Arg150Cys, XP_047286391.1:p.Arg150Cys

            6.

            rs1469855212 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:19782617 (GRCh38)
              13:20356757 (GRCh37)
              Canonical SPDI:
              NC_000013.11:19782616:C:T
              Gene:
              PSPC1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.00001/2 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.19782617C>T, NC_000013.10:g.20356757C>T, NG_029751.2:g.5403G>A, NM_001042414.4:c.141G>A, NM_001042414.3:c.141G>A, NM_001042414.2:c.141G>A, NR_003272.4:n.329G>A, NR_003272.3:n.420G>A, NR_003272.2:n.403G>A, NR_044998.3:n.329G>A, NR_044998.2:n.420G>A, NR_044998.1:n.403G>A, NM_001363660.2:c.141G>A, NM_001363660.1:c.141G>A, NR_149052.2:n.329G>A, NR_149052.1:n.420G>A, NM_001354909.2:c.141G>A, NM_001354909.1:c.141G>A, NR_149053.2:n.329G>A, NR_149053.1:n.420G>A, NM_001354908.2:c.141G>A, NM_001354908.1:c.141G>A, NR_156729.2:n.329G>A, NR_156729.1:n.420G>A, XM_011535142.4:c.141G>A, XM_011535142.3:c.141G>A, XM_011535142.2:c.141G>A, XM_011535142.1:c.141G>A, XM_011535138.4:c.141G>A, XM_011535138.3:c.141G>A, XM_011535138.2:c.141G>A, XM_011535138.1:c.141G>A, XM_011535141.4:c.141G>A, XM_011535141.3:c.141G>A, XM_011535141.2:c.141G>A, XM_011535141.1:c.141G>A, XM_011535139.3:c.141G>A, XM_011535139.2:c.141G>A, XM_011535139.1:c.141G>A, XR_941617.3:n.329G>A, XR_941617.2:n.327G>A, XR_941617.1:n.390G>A, NM_018282.2:c.141G>A, XR_007063689.1:n.329G>A, XR_007063688.1:n.329G>A, XM_047430435.1:c.141G>A, NM_018282.1:c.33G>A

              7.

              rs1469802712 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:19751410 (GRCh38)
                13:20325550 (GRCh37)
                Canonical SPDI:
                NC_000013.11:19751409:T:C
                Gene:
                PSPC1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000009/2 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.19751410T>C, NC_000013.10:g.20325550T>C, NG_029751.2:g.36610A>G, NM_001042414.4:c.828A>G, NM_001042414.3:c.828A>G, NM_001042414.2:c.828A>G, NR_003272.4:n.1016A>G, NR_003272.3:n.1107A>G, NR_003272.2:n.1090A>G, NR_044998.3:n.1016A>G, NR_044998.2:n.1107A>G, NR_044998.1:n.1090A>G, NM_001363660.2:c.828A>G, NM_001363660.1:c.828A>G, NR_149052.2:n.1016A>G, NR_149052.1:n.1107A>G, NM_001354909.2:c.828A>G, NM_001354909.1:c.828A>G, NR_149053.2:n.1016A>G, NR_149053.1:n.1107A>G, NM_001354908.2:c.828A>G, NM_001354908.1:c.828A>G, NR_156729.2:n.1016A>G, NR_156729.1:n.1107A>G, XM_011535142.4:c.828A>G, XM_011535142.3:c.828A>G, XM_011535142.2:c.828A>G, XM_011535142.1:c.828A>G, XM_011535138.4:c.828A>G, XM_011535138.3:c.828A>G, XM_011535138.2:c.828A>G, XM_011535138.1:c.828A>G, XM_011535141.4:c.828A>G, XM_011535141.3:c.828A>G, XM_011535141.2:c.828A>G, XM_011535141.1:c.828A>G, XM_011535139.3:c.828A>G, XM_011535139.2:c.828A>G, XM_011535139.1:c.828A>G, XR_941617.3:n.1016A>G, XR_941617.2:n.1014A>G, XR_941617.1:n.1077A>G, NM_018282.2:c.828A>G, XR_007063689.1:n.1016A>G, XR_007063688.1:n.1016A>G, XM_047430435.1:c.828A>G, NM_018282.1:c.720A>G

                8.

                rs1468465339 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:19772364 (GRCh38)
                  13:20346504 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:19772363:T:C
                  Gene:
                  PSPC1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.19772364T>C, NC_000013.10:g.20346504T>C, NG_029751.2:g.15656A>G, NM_001042414.4:c.552A>G, NM_001042414.3:c.552A>G, NM_001042414.2:c.552A>G, NR_003272.4:n.740A>G, NR_003272.3:n.831A>G, NR_003272.2:n.814A>G, NR_044998.3:n.740A>G, NR_044998.2:n.831A>G, NR_044998.1:n.814A>G, NM_001363660.2:c.552A>G, NM_001363660.1:c.552A>G, NR_149052.2:n.740A>G, NR_149052.1:n.831A>G, NM_001354909.2:c.552A>G, NM_001354909.1:c.552A>G, NR_149053.2:n.740A>G, NR_149053.1:n.831A>G, NM_001354908.2:c.552A>G, NM_001354908.1:c.552A>G, NR_156729.2:n.740A>G, NR_156729.1:n.831A>G, XM_011535142.4:c.552A>G, XM_011535142.3:c.552A>G, XM_011535142.2:c.552A>G, XM_011535142.1:c.552A>G, XM_011535138.4:c.552A>G, XM_011535138.3:c.552A>G, XM_011535138.2:c.552A>G, XM_011535138.1:c.552A>G, XM_011535141.4:c.552A>G, XM_011535141.3:c.552A>G, XM_011535141.2:c.552A>G, XM_011535141.1:c.552A>G, XM_011535139.3:c.552A>G, XM_011535139.2:c.552A>G, XM_011535139.1:c.552A>G, XR_941617.3:n.740A>G, XR_941617.2:n.738A>G, XR_941617.1:n.801A>G, NM_018282.2:c.552A>G, XR_007063689.1:n.740A>G, XR_007063688.1:n.740A>G, XM_047430435.1:c.552A>G, NM_018282.1:c.444A>G

                  9.

                  rs1467112713 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    13:19782548 (GRCh38)
                    13:20356688 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:19782547:G:A,NC_000013.11:19782547:G:C
                    Gene:
                    PSPC1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000013.11:g.19782548G>A, NC_000013.11:g.19782548G>C, NC_000013.10:g.20356688G>A, NC_000013.10:g.20356688G>C, NG_029751.2:g.5472C>T, NG_029751.2:g.5472C>G, NM_001042414.4:c.210C>T, NM_001042414.4:c.210C>G, NM_001042414.3:c.210C>T, NM_001042414.3:c.210C>G, NM_001042414.2:c.210C>T, NM_001042414.2:c.210C>G, NR_003272.4:n.398C>T, NR_003272.4:n.398C>G, NR_003272.3:n.489C>T, NR_003272.3:n.489C>G, NR_003272.2:n.472C>T, NR_003272.2:n.472C>G, NR_044998.3:n.398C>T, NR_044998.3:n.398C>G, NR_044998.2:n.489C>T, NR_044998.2:n.489C>G, NR_044998.1:n.472C>T, NR_044998.1:n.472C>G, NM_001363660.2:c.210C>T, NM_001363660.2:c.210C>G, NM_001363660.1:c.210C>T, NM_001363660.1:c.210C>G, NR_149052.2:n.398C>T, NR_149052.2:n.398C>G, NR_149052.1:n.489C>T, NR_149052.1:n.489C>G, NM_001354909.2:c.210C>T, NM_001354909.2:c.210C>G, NM_001354909.1:c.210C>T, NM_001354909.1:c.210C>G, NR_149053.2:n.398C>T, NR_149053.2:n.398C>G, NR_149053.1:n.489C>T, NR_149053.1:n.489C>G, NM_001354908.2:c.210C>T, NM_001354908.2:c.210C>G, NM_001354908.1:c.210C>T, NM_001354908.1:c.210C>G, NR_156729.2:n.398C>T, NR_156729.2:n.398C>G, NR_156729.1:n.489C>T, NR_156729.1:n.489C>G, XM_011535142.4:c.210C>T, XM_011535142.4:c.210C>G, XM_011535142.3:c.210C>T, XM_011535142.3:c.210C>G, XM_011535142.2:c.210C>T, XM_011535142.2:c.210C>G, XM_011535142.1:c.210C>T, XM_011535142.1:c.210C>G, XM_011535138.4:c.210C>T, XM_011535138.4:c.210C>G, XM_011535138.3:c.210C>T, XM_011535138.3:c.210C>G, XM_011535138.2:c.210C>T, XM_011535138.2:c.210C>G, XM_011535138.1:c.210C>T, XM_011535138.1:c.210C>G, XM_011535141.4:c.210C>T, XM_011535141.4:c.210C>G, XM_011535141.3:c.210C>T, XM_011535141.3:c.210C>G, XM_011535141.2:c.210C>T, XM_011535141.2:c.210C>G, XM_011535141.1:c.210C>T, XM_011535141.1:c.210C>G, XM_011535139.3:c.210C>T, XM_011535139.3:c.210C>G, XM_011535139.2:c.210C>T, XM_011535139.2:c.210C>G, XM_011535139.1:c.210C>T, XM_011535139.1:c.210C>G, XR_941617.3:n.398C>T, XR_941617.3:n.398C>G, XR_941617.2:n.396C>T, XR_941617.2:n.396C>G, XR_941617.1:n.459C>T, XR_941617.1:n.459C>G, NM_018282.2:c.210C>T, NM_018282.2:c.210C>G, XR_007063689.1:n.398C>T, XR_007063689.1:n.398C>G, XR_007063688.1:n.398C>T, XR_007063688.1:n.398C>G, XM_047430435.1:c.210C>T, XM_047430435.1:c.210C>G, NM_018282.1:c.102C>T, NM_018282.1:c.102C>G, NP_001035879.1:p.Phe70Leu, NP_001350589.1:p.Phe70Leu, NP_001341838.1:p.Phe70Leu, NP_001341837.1:p.Phe70Leu, XP_011533444.1:p.Phe70Leu, XP_011533440.1:p.Phe70Leu, XP_011533443.1:p.Phe70Leu, XP_011533441.1:p.Phe70Leu, XP_047286391.1:p.Phe70Leu

                    10.

                    rs1466262745 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:19782416 (GRCh38)
                      13:20356556 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:19782415:G:A
                      Gene:
                      PSPC1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000013.11:g.19782416G>A, NC_000013.10:g.20356556G>A, NG_029751.2:g.5604C>T, NM_001042414.4:c.342C>T, NM_001042414.3:c.342C>T, NM_001042414.2:c.342C>T, NR_003272.4:n.530C>T, NR_003272.3:n.621C>T, NR_003272.2:n.604C>T, NR_044998.3:n.530C>T, NR_044998.2:n.621C>T, NR_044998.1:n.604C>T, NM_001363660.2:c.342C>T, NM_001363660.1:c.342C>T, NR_149052.2:n.530C>T, NR_149052.1:n.621C>T, NM_001354909.2:c.342C>T, NM_001354909.1:c.342C>T, NR_149053.2:n.530C>T, NR_149053.1:n.621C>T, NM_001354908.2:c.342C>T, NM_001354908.1:c.342C>T, NR_156729.2:n.530C>T, NR_156729.1:n.621C>T, XM_011535142.4:c.342C>T, XM_011535142.3:c.342C>T, XM_011535142.2:c.342C>T, XM_011535142.1:c.342C>T, XM_011535138.4:c.342C>T, XM_011535138.3:c.342C>T, XM_011535138.2:c.342C>T, XM_011535138.1:c.342C>T, XM_011535141.4:c.342C>T, XM_011535141.3:c.342C>T, XM_011535141.2:c.342C>T, XM_011535141.1:c.342C>T, XM_011535139.3:c.342C>T, XM_011535139.2:c.342C>T, XM_011535139.1:c.342C>T, XR_941617.3:n.530C>T, XR_941617.2:n.528C>T, XR_941617.1:n.591C>T, NM_018282.2:c.342C>T, XR_007063689.1:n.530C>T, XR_007063688.1:n.530C>T, XM_047430435.1:c.342C>T, NM_018282.1:c.234C>T

                      11.

                      rs1466021917 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        13:19730308 (GRCh38)
                        13:20304448 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:19730307:C:G,NC_000013.11:19730307:C:T
                        Gene:
                        PSPC1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.19730308C>G, NC_000013.11:g.19730308C>T, NC_000013.10:g.20304448C>G, NC_000013.10:g.20304448C>T, NG_029751.2:g.57712G>C, NG_029751.2:g.57712G>A, NM_001042414.4:c.1089G>C, NM_001042414.4:c.1089G>A, NM_001042414.3:c.1089G>C, NM_001042414.3:c.1089G>A, NM_001042414.2:c.1089G>C, NM_001042414.2:c.1089G>A, NR_003272.4:n.1277G>C, NR_003272.4:n.1277G>A, NR_003272.3:n.1368G>C, NR_003272.3:n.1368G>A, NR_003272.2:n.1351G>C, NR_003272.2:n.1351G>A, NR_044998.3:n.1277G>C, NR_044998.3:n.1277G>A, NR_044998.2:n.1368G>C, NR_044998.2:n.1368G>A, NR_044998.1:n.1351G>C, NR_044998.1:n.1351G>A, NM_001363660.2:c.1089G>C, NM_001363660.2:c.1089G>A, NM_001363660.1:c.1089G>C, NM_001363660.1:c.1089G>A, NR_149052.2:n.1277G>C, NR_149052.2:n.1277G>A, NR_149052.1:n.1368G>C, NR_149052.1:n.1368G>A, NM_001354909.2:c.1089G>C, NM_001354909.2:c.1089G>A, NM_001354909.1:c.1089G>C, NM_001354909.1:c.1089G>A, NR_149053.2:n.1277G>C, NR_149053.2:n.1277G>A, NR_149053.1:n.1368G>C, NR_149053.1:n.1368G>A, NM_001354908.2:c.1089G>C, NM_001354908.2:c.1089G>A, NM_001354908.1:c.1089G>C, NM_001354908.1:c.1089G>A, NR_156729.2:n.1277G>C, NR_156729.2:n.1277G>A, NR_156729.1:n.1368G>C, NR_156729.1:n.1368G>A, XM_011535142.4:c.1089G>C, XM_011535142.4:c.1089G>A, XM_011535142.3:c.1089G>C, XM_011535142.3:c.1089G>A, XM_011535142.2:c.1089G>C, XM_011535142.2:c.1089G>A, XM_011535142.1:c.1089G>C, XM_011535142.1:c.1089G>A, XM_011535138.4:c.1089G>C, XM_011535138.4:c.1089G>A, XM_011535138.3:c.1089G>C, XM_011535138.3:c.1089G>A, XM_011535138.2:c.1089G>C, XM_011535138.2:c.1089G>A, XM_011535138.1:c.1089G>C, XM_011535138.1:c.1089G>A, XM_011535141.4:c.1089G>C, XM_011535141.4:c.1089G>A, XM_011535141.3:c.1089G>C, XM_011535141.3:c.1089G>A, XM_011535141.2:c.1089G>C, XM_011535141.2:c.1089G>A, XM_011535141.1:c.1089G>C, XM_011535141.1:c.1089G>A, XM_011535139.3:c.1089G>C, XM_011535139.3:c.1089G>A, XM_011535139.2:c.1089G>C, XM_011535139.2:c.1089G>A, XM_011535139.1:c.1089G>C, XM_011535139.1:c.1089G>A, XR_941617.3:n.1277G>C, XR_941617.3:n.1277G>A, XR_941617.2:n.1275G>C, XR_941617.2:n.1275G>A, XR_941617.1:n.1338G>C, XR_941617.1:n.1338G>A, NM_018282.2:c.1089G>C, NM_018282.2:c.1089G>A, XR_007063689.1:n.1277G>C, XR_007063689.1:n.1277G>A, XR_007063688.1:n.1277G>C, XR_007063688.1:n.1277G>A, XM_047430435.1:c.1089G>C, XM_047430435.1:c.1089G>A, NM_018282.1:c.981G>C, NM_018282.1:c.981G>A, NP_001035879.1:p.Met363Ile, NP_001035879.1:p.Met363Ile, NP_001350589.1:p.Met363Ile, NP_001350589.1:p.Met363Ile, NP_001341838.1:p.Met363Ile, NP_001341838.1:p.Met363Ile, NP_001341837.1:p.Met363Ile, NP_001341837.1:p.Met363Ile, XP_011533444.1:p.Met363Ile, XP_011533444.1:p.Met363Ile, XP_011533440.1:p.Met363Ile, XP_011533440.1:p.Met363Ile, XP_011533443.1:p.Met363Ile, XP_011533443.1:p.Met363Ile, XP_011533441.1:p.Met363Ile, XP_011533441.1:p.Met363Ile, XP_047286391.1:p.Met363Ile, XP_047286391.1:p.Met363Ile

                        12.

                        rs1461502191 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:19741590 (GRCh38)
                          13:20315730 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:19741589:G:A
                          Gene:
                          PSPC1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,stop_gained,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.19741590G>A, NC_000013.10:g.20315730G>A, NG_029751.2:g.46430C>T, NM_001042414.4:c.1027C>T, NM_001042414.3:c.1027C>T, NM_001042414.2:c.1027C>T, NR_003272.4:n.1215C>T, NR_003272.3:n.1306C>T, NR_003272.2:n.1289C>T, NR_044998.3:n.1215C>T, NR_044998.2:n.1306C>T, NR_044998.1:n.1289C>T, NM_001363660.2:c.1027C>T, NM_001363660.1:c.1027C>T, NR_149052.2:n.1215C>T, NR_149052.1:n.1306C>T, NM_001354909.2:c.1027C>T, NM_001354909.1:c.1027C>T, NR_149053.2:n.1215C>T, NR_149053.1:n.1306C>T, NM_001354908.2:c.1027C>T, NM_001354908.1:c.1027C>T, NR_156729.2:n.1215C>T, NR_156729.1:n.1306C>T, XM_011535142.4:c.1027C>T, XM_011535142.3:c.1027C>T, XM_011535142.2:c.1027C>T, XM_011535142.1:c.1027C>T, XM_011535138.4:c.1027C>T, XM_011535138.3:c.1027C>T, XM_011535138.2:c.1027C>T, XM_011535138.1:c.1027C>T, XM_011535141.4:c.1027C>T, XM_011535141.3:c.1027C>T, XM_011535141.2:c.1027C>T, XM_011535141.1:c.1027C>T, XM_011535139.3:c.1027C>T, XM_011535139.2:c.1027C>T, XM_011535139.1:c.1027C>T, XR_941617.3:n.1215C>T, XR_941617.2:n.1213C>T, XR_941617.1:n.1276C>T, NM_018282.2:c.1027C>T, XR_007063689.1:n.1215C>T, XR_007063688.1:n.1215C>T, XM_047430435.1:c.1027C>T, NM_018282.1:c.919C>T, NP_001035879.1:p.Gln343Ter, NP_001350589.1:p.Gln343Ter, NP_001341838.1:p.Gln343Ter, NP_001341837.1:p.Gln343Ter, XP_011533444.1:p.Gln343Ter, XP_011533440.1:p.Gln343Ter, XP_011533443.1:p.Gln343Ter, XP_011533441.1:p.Gln343Ter, XP_047286391.1:p.Gln343Ter

                          13.

                          rs1460285202 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            13:19782623 (GRCh38)
                            13:20356763 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:19782622:C:G
                            Gene:
                            PSPC1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.19782623C>G, NC_000013.10:g.20356763C>G, NG_029751.2:g.5397G>C, NM_001042414.4:c.135G>C, NM_001042414.3:c.135G>C, NM_001042414.2:c.135G>C, NR_003272.4:n.323G>C, NR_003272.3:n.414G>C, NR_003272.2:n.397G>C, NR_044998.3:n.323G>C, NR_044998.2:n.414G>C, NR_044998.1:n.397G>C, NM_001363660.2:c.135G>C, NM_001363660.1:c.135G>C, NR_149052.2:n.323G>C, NR_149052.1:n.414G>C, NM_001354909.2:c.135G>C, NM_001354909.1:c.135G>C, NR_149053.2:n.323G>C, NR_149053.1:n.414G>C, NM_001354908.2:c.135G>C, NM_001354908.1:c.135G>C, NR_156729.2:n.323G>C, NR_156729.1:n.414G>C, XM_011535142.4:c.135G>C, XM_011535142.3:c.135G>C, XM_011535142.2:c.135G>C, XM_011535142.1:c.135G>C, XM_011535138.4:c.135G>C, XM_011535138.3:c.135G>C, XM_011535138.2:c.135G>C, XM_011535138.1:c.135G>C, XM_011535141.4:c.135G>C, XM_011535141.3:c.135G>C, XM_011535141.2:c.135G>C, XM_011535141.1:c.135G>C, XM_011535139.3:c.135G>C, XM_011535139.2:c.135G>C, XM_011535139.1:c.135G>C, XR_941617.3:n.323G>C, XR_941617.2:n.321G>C, XR_941617.1:n.384G>C, NM_018282.2:c.135G>C, XR_007063689.1:n.323G>C, XR_007063688.1:n.323G>C, XM_047430435.1:c.135G>C, NM_018282.1:c.27G>C

                            14.

                            rs1459928831 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              13:19751447 (GRCh38)
                              13:20325587 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:19751446:C:T
                              Gene:
                              PSPC1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.19751447C>T, NC_000013.10:g.20325587C>T, NG_029751.2:g.36573G>A, NM_001042414.4:c.791G>A, NM_001042414.3:c.791G>A, NM_001042414.2:c.791G>A, NR_003272.4:n.979G>A, NR_003272.3:n.1070G>A, NR_003272.2:n.1053G>A, NR_044998.3:n.979G>A, NR_044998.2:n.1070G>A, NR_044998.1:n.1053G>A, NM_001363660.2:c.791G>A, NM_001363660.1:c.791G>A, NR_149052.2:n.979G>A, NR_149052.1:n.1070G>A, NM_001354909.2:c.791G>A, NM_001354909.1:c.791G>A, NR_149053.2:n.979G>A, NR_149053.1:n.1070G>A, NM_001354908.2:c.791G>A, NM_001354908.1:c.791G>A, NR_156729.2:n.979G>A, NR_156729.1:n.1070G>A, XM_011535142.4:c.791G>A, XM_011535142.3:c.791G>A, XM_011535142.2:c.791G>A, XM_011535142.1:c.791G>A, XM_011535138.4:c.791G>A, XM_011535138.3:c.791G>A, XM_011535138.2:c.791G>A, XM_011535138.1:c.791G>A, XM_011535141.4:c.791G>A, XM_011535141.3:c.791G>A, XM_011535141.2:c.791G>A, XM_011535141.1:c.791G>A, XM_011535139.3:c.791G>A, XM_011535139.2:c.791G>A, XM_011535139.1:c.791G>A, XR_941617.3:n.979G>A, XR_941617.2:n.977G>A, XR_941617.1:n.1040G>A, NM_018282.2:c.791G>A, XR_007063689.1:n.979G>A, XR_007063688.1:n.979G>A, XM_047430435.1:c.791G>A, NM_018282.1:c.683G>A, NP_001035879.1:p.Arg264His, NP_001350589.1:p.Arg264His, NP_001341838.1:p.Arg264His, NP_001341837.1:p.Arg264His, XP_011533444.1:p.Arg264His, XP_011533440.1:p.Arg264His, XP_011533443.1:p.Arg264His, XP_011533441.1:p.Arg264His, XP_047286391.1:p.Arg264His

                              15.

                              rs1455415292 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                13:19751346 (GRCh38)
                                13:20325486 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:19751345:T:C
                                Gene:
                                PSPC1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000009/2 (GnomAD_exomes)
                                HGVS:
                                NC_000013.11:g.19751346T>C, NC_000013.10:g.20325486T>C, NG_029751.2:g.36674A>G, NM_001042414.4:c.892A>G, NM_001042414.3:c.892A>G, NM_001042414.2:c.892A>G, NR_003272.4:n.1080A>G, NR_003272.3:n.1171A>G, NR_003272.2:n.1154A>G, NR_044998.3:n.1080A>G, NR_044998.2:n.1171A>G, NR_044998.1:n.1154A>G, NM_001363660.2:c.892A>G, NM_001363660.1:c.892A>G, NR_149052.2:n.1080A>G, NR_149052.1:n.1171A>G, NM_001354909.2:c.892A>G, NM_001354909.1:c.892A>G, NR_149053.2:n.1080A>G, NR_149053.1:n.1171A>G, NM_001354908.2:c.892A>G, NM_001354908.1:c.892A>G, NR_156729.2:n.1080A>G, NR_156729.1:n.1171A>G, XM_011535142.4:c.892A>G, XM_011535142.3:c.892A>G, XM_011535142.2:c.892A>G, XM_011535142.1:c.892A>G, XM_011535138.4:c.892A>G, XM_011535138.3:c.892A>G, XM_011535138.2:c.892A>G, XM_011535138.1:c.892A>G, XM_011535141.4:c.892A>G, XM_011535141.3:c.892A>G, XM_011535141.2:c.892A>G, XM_011535141.1:c.892A>G, XM_011535139.3:c.892A>G, XM_011535139.2:c.892A>G, XM_011535139.1:c.892A>G, XR_941617.3:n.1080A>G, XR_941617.2:n.1078A>G, XR_941617.1:n.1141A>G, NM_018282.2:c.892A>G, XR_007063689.1:n.1080A>G, XR_007063688.1:n.1080A>G, XM_047430435.1:c.892A>G, NM_018282.1:c.784A>G, NP_001035879.1:p.Arg298Gly, NP_001350589.1:p.Arg298Gly, NP_001341838.1:p.Arg298Gly, NP_001341837.1:p.Arg298Gly, XP_011533444.1:p.Arg298Gly, XP_011533440.1:p.Arg298Gly, XP_011533443.1:p.Arg298Gly, XP_011533441.1:p.Arg298Gly, XP_047286391.1:p.Arg298Gly

                                16.

                                rs1451442037 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:19782582 (GRCh38)
                                  13:20356722 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:19782581:T:C
                                  Gene:
                                  PSPC1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000013.11:g.19782582T>C, NC_000013.10:g.20356722T>C, NG_029751.2:g.5438A>G, NM_001042414.4:c.176A>G, NM_001042414.3:c.176A>G, NM_001042414.2:c.176A>G, NR_003272.4:n.364A>G, NR_003272.3:n.455A>G, NR_003272.2:n.438A>G, NR_044998.3:n.364A>G, NR_044998.2:n.455A>G, NR_044998.1:n.438A>G, NM_001363660.2:c.176A>G, NM_001363660.1:c.176A>G, NR_149052.2:n.364A>G, NR_149052.1:n.455A>G, NM_001354909.2:c.176A>G, NM_001354909.1:c.176A>G, NR_149053.2:n.364A>G, NR_149053.1:n.455A>G, NM_001354908.2:c.176A>G, NM_001354908.1:c.176A>G, NR_156729.2:n.364A>G, NR_156729.1:n.455A>G, XM_011535142.4:c.176A>G, XM_011535142.3:c.176A>G, XM_011535142.2:c.176A>G, XM_011535142.1:c.176A>G, XM_011535138.4:c.176A>G, XM_011535138.3:c.176A>G, XM_011535138.2:c.176A>G, XM_011535138.1:c.176A>G, XM_011535141.4:c.176A>G, XM_011535141.3:c.176A>G, XM_011535141.2:c.176A>G, XM_011535141.1:c.176A>G, XM_011535139.3:c.176A>G, XM_011535139.2:c.176A>G, XM_011535139.1:c.176A>G, XR_941617.3:n.364A>G, XR_941617.2:n.362A>G, XR_941617.1:n.425A>G, NM_018282.2:c.176A>G, XR_007063689.1:n.364A>G, XR_007063688.1:n.364A>G, XM_047430435.1:c.176A>G, NM_018282.1:c.68A>G, NP_001035879.1:p.Glu59Gly, NP_001350589.1:p.Glu59Gly, NP_001341838.1:p.Glu59Gly, NP_001341837.1:p.Glu59Gly, XP_011533444.1:p.Glu59Gly, XP_011533440.1:p.Glu59Gly, XP_011533443.1:p.Glu59Gly, XP_011533441.1:p.Glu59Gly, XP_047286391.1:p.Glu59Gly

                                  17.

                                  rs1451215046 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:19772250 (GRCh38)
                                    13:20346390 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:19772249:C:T
                                    Gene:
                                    PSPC1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000028/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.19772250C>T, NC_000013.10:g.20346390C>T, NG_029751.2:g.15770G>A, NM_001042414.4:c.666G>A, NM_001042414.3:c.666G>A, NM_001042414.2:c.666G>A, NR_003272.4:n.854G>A, NR_003272.3:n.945G>A, NR_003272.2:n.928G>A, NR_044998.3:n.854G>A, NR_044998.2:n.945G>A, NR_044998.1:n.928G>A, NM_001363660.2:c.666G>A, NM_001363660.1:c.666G>A, NR_149052.2:n.854G>A, NR_149052.1:n.945G>A, NM_001354909.2:c.666G>A, NM_001354909.1:c.666G>A, NR_149053.2:n.854G>A, NR_149053.1:n.945G>A, NM_001354908.2:c.666G>A, NM_001354908.1:c.666G>A, NR_156729.2:n.854G>A, NR_156729.1:n.945G>A, XM_011535142.4:c.666G>A, XM_011535142.3:c.666G>A, XM_011535142.2:c.666G>A, XM_011535142.1:c.666G>A, XM_011535138.4:c.666G>A, XM_011535138.3:c.666G>A, XM_011535138.2:c.666G>A, XM_011535138.1:c.666G>A, XM_011535141.4:c.666G>A, XM_011535141.3:c.666G>A, XM_011535141.2:c.666G>A, XM_011535141.1:c.666G>A, XM_011535139.3:c.666G>A, XM_011535139.2:c.666G>A, XM_011535139.1:c.666G>A, XR_941617.3:n.854G>A, XR_941617.2:n.852G>A, XR_941617.1:n.915G>A, NM_018282.2:c.666G>A, XR_007063689.1:n.854G>A, XR_007063688.1:n.854G>A, XM_047430435.1:c.666G>A, NM_018282.1:c.558G>A

                                    18.

                                    rs1450797175 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      13:19741597 (GRCh38)
                                      13:20315737 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:19741596:T:G
                                      Gene:
                                      PSPC1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.19741597T>G, NC_000013.10:g.20315737T>G, NG_029751.2:g.46423A>C, NM_001042414.4:c.1020A>C, NM_001042414.3:c.1020A>C, NM_001042414.2:c.1020A>C, NR_003272.4:n.1208A>C, NR_003272.3:n.1299A>C, NR_003272.2:n.1282A>C, NR_044998.3:n.1208A>C, NR_044998.2:n.1299A>C, NR_044998.1:n.1282A>C, NM_001363660.2:c.1020A>C, NM_001363660.1:c.1020A>C, NR_149052.2:n.1208A>C, NR_149052.1:n.1299A>C, NM_001354909.2:c.1020A>C, NM_001354909.1:c.1020A>C, NR_149053.2:n.1208A>C, NR_149053.1:n.1299A>C, NM_001354908.2:c.1020A>C, NM_001354908.1:c.1020A>C, NR_156729.2:n.1208A>C, NR_156729.1:n.1299A>C, XM_011535142.4:c.1020A>C, XM_011535142.3:c.1020A>C, XM_011535142.2:c.1020A>C, XM_011535142.1:c.1020A>C, XM_011535138.4:c.1020A>C, XM_011535138.3:c.1020A>C, XM_011535138.2:c.1020A>C, XM_011535138.1:c.1020A>C, XM_011535141.4:c.1020A>C, XM_011535141.3:c.1020A>C, XM_011535141.2:c.1020A>C, XM_011535141.1:c.1020A>C, XM_011535139.3:c.1020A>C, XM_011535139.2:c.1020A>C, XM_011535139.1:c.1020A>C, XR_941617.3:n.1208A>C, XR_941617.2:n.1206A>C, XR_941617.1:n.1269A>C, NM_018282.2:c.1020A>C, XR_007063689.1:n.1208A>C, XR_007063688.1:n.1208A>C, XM_047430435.1:c.1020A>C, NM_018282.1:c.912A>C, NP_001035879.1:p.Gln340His, NP_001350589.1:p.Gln340His, NP_001341838.1:p.Gln340His, NP_001341837.1:p.Gln340His, XP_011533444.1:p.Gln340His, XP_011533440.1:p.Gln340His, XP_011533443.1:p.Gln340His, XP_011533441.1:p.Gln340His, XP_047286391.1:p.Gln340His

                                      19.

                                      rs1445913477 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:19782535 (GRCh38)
                                        13:20356675 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:19782534:C:T
                                        Gene:
                                        PSPC1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.19782535C>T, NC_000013.10:g.20356675C>T, NG_029751.2:g.5485G>A, NM_001042414.4:c.223G>A, NM_001042414.3:c.223G>A, NM_001042414.2:c.223G>A, NR_003272.4:n.411G>A, NR_003272.3:n.502G>A, NR_003272.2:n.485G>A, NR_044998.3:n.411G>A, NR_044998.2:n.502G>A, NR_044998.1:n.485G>A, NM_001363660.2:c.223G>A, NM_001363660.1:c.223G>A, NR_149052.2:n.411G>A, NR_149052.1:n.502G>A, NM_001354909.2:c.223G>A, NM_001354909.1:c.223G>A, NR_149053.2:n.411G>A, NR_149053.1:n.502G>A, NM_001354908.2:c.223G>A, NM_001354908.1:c.223G>A, NR_156729.2:n.411G>A, NR_156729.1:n.502G>A, XM_011535142.4:c.223G>A, XM_011535142.3:c.223G>A, XM_011535142.2:c.223G>A, XM_011535142.1:c.223G>A, XM_011535138.4:c.223G>A, XM_011535138.3:c.223G>A, XM_011535138.2:c.223G>A, XM_011535138.1:c.223G>A, XM_011535141.4:c.223G>A, XM_011535141.3:c.223G>A, XM_011535141.2:c.223G>A, XM_011535141.1:c.223G>A, XM_011535139.3:c.223G>A, XM_011535139.2:c.223G>A, XM_011535139.1:c.223G>A, XR_941617.3:n.411G>A, XR_941617.2:n.409G>A, XR_941617.1:n.472G>A, NM_018282.2:c.223G>A, XR_007063689.1:n.411G>A, XR_007063688.1:n.411G>A, XM_047430435.1:c.223G>A, NM_018282.1:c.115G>A, NP_001035879.1:p.Glu75Lys, NP_001350589.1:p.Glu75Lys, NP_001341838.1:p.Glu75Lys, NP_001341837.1:p.Glu75Lys, XP_011533444.1:p.Glu75Lys, XP_011533440.1:p.Glu75Lys, XP_011533443.1:p.Glu75Lys, XP_011533441.1:p.Glu75Lys, XP_047286391.1:p.Glu75Lys

                                        20.

                                        rs1445527704 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          13:19730291 (GRCh38)
                                          13:20304431 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:19730290:T:C
                                          Gene:
                                          PSPC1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.19730291T>C, NC_000013.10:g.20304431T>C, NG_029751.2:g.57729A>G, NM_001042414.4:c.1106A>G, NM_001042414.3:c.1106A>G, NM_001042414.2:c.1106A>G, NR_003272.4:n.1294A>G, NR_003272.3:n.1385A>G, NR_003272.2:n.1368A>G, NR_044998.3:n.1294A>G, NR_044998.2:n.1385A>G, NR_044998.1:n.1368A>G, NM_001363660.2:c.1106A>G, NM_001363660.1:c.1106A>G, NR_149052.2:n.1294A>G, NR_149052.1:n.1385A>G, NM_001354909.2:c.1106A>G, NM_001354909.1:c.1106A>G, NR_149053.2:n.1294A>G, NR_149053.1:n.1385A>G, NM_001354908.2:c.1106A>G, NM_001354908.1:c.1106A>G, NR_156729.2:n.1294A>G, NR_156729.1:n.1385A>G, XM_011535142.4:c.1106A>G, XM_011535142.3:c.1106A>G, XM_011535142.2:c.1106A>G, XM_011535142.1:c.1106A>G, XM_011535138.4:c.1106A>G, XM_011535138.3:c.1106A>G, XM_011535138.2:c.1106A>G, XM_011535138.1:c.1106A>G, XM_011535141.4:c.1106A>G, XM_011535141.3:c.1106A>G, XM_011535141.2:c.1106A>G, XM_011535141.1:c.1106A>G, XM_011535139.3:c.1106A>G, XM_011535139.2:c.1106A>G, XM_011535139.1:c.1106A>G, XR_941617.3:n.1294A>G, XR_941617.2:n.1292A>G, XR_941617.1:n.1355A>G, NM_018282.2:c.1106A>G, XR_007063689.1:n.1294A>G, XR_007063688.1:n.1294A>G, XM_047430435.1:c.1106A>G, NM_018282.1:c.998A>G, NP_001035879.1:p.Gln369Arg, NP_001350589.1:p.Gln369Arg, NP_001341838.1:p.Gln369Arg, NP_001341837.1:p.Gln369Arg, XP_011533444.1:p.Gln369Arg, XP_011533440.1:p.Gln369Arg, XP_011533443.1:p.Gln369Arg, XP_011533441.1:p.Gln369Arg, XP_047286391.1:p.Gln369Arg

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