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Items: 1 to 20 of 341

1.

rs1490432133 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:109281222 (GRCh38)
    1:109823844 (GRCh37)
    Canonical SPDI:
    NC_000001.11:109281221:T:C
    Gene:
    PSRC1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000087/2 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000008/2 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    NC_000001.11:g.109281222T>C, NC_000001.10:g.109823844T>C, NM_032636.8:c.549A>G, NM_032636.7:c.549A>G, XM_005271283.4:c.549A>G, XM_005271283.3:c.549A>G, XM_005271283.2:c.549A>G, XM_005271283.1:c.549A>G, NM_001005290.4:c.549A>G, NM_001005290.3:c.549A>G, XM_017002560.3:c.549A>G, XM_017002560.2:c.549A>G, XM_017002560.1:c.549A>G, NM_001032291.3:c.549A>G, NM_001032291.2:c.549A>G, NM_001350237.2:c.549A>G, NM_001350237.1:c.549A>G, XM_017002563.2:c.549A>G, XM_017002563.1:c.549A>G, XM_017002562.2:c.549A>G, XM_017002562.1:c.549A>G, XM_017002566.2:c.549A>G, XM_017002566.1:c.549A>G, XM_017002567.2:c.549A>G, XM_017002567.1:c.549A>G, XM_017002564.2:c.549A>G, XM_017002564.1:c.549A>G, NM_001363309.2:c.549A>G, NM_001363309.1:c.549A>G, XM_017002569.2:c.549A>G, XM_017002569.1:c.549A>G, XM_017002570.2:c.549A>G, XM_017002570.1:c.549A>G, NM_001350241.2:c.549A>G, NM_001350241.1:c.549A>G, NM_001350238.2:c.549A>G, NM_001350238.1:c.549A>G, NM_001350239.2:c.549A>G, NM_001350239.1:c.549A>G, NM_001350240.2:c.549A>G, NM_001350240.1:c.549A>G, NM_001350242.2:c.549A>G, NM_001350242.1:c.549A>G, XM_047432251.1:c.549A>G, NM_001032290.1:c.549A>G, XM_047432264.1:c.549A>G, NM_001394005.1:c.549A>G, XM_047432255.1:c.549A>G, XM_047432272.1:c.549A>G, XM_047432274.1:c.549A>G, NM_001394002.1:c.549A>G, NM_001394004.1:c.549A>G, XM_047432275.1:c.549A>G, XM_047432294.1:c.549A>G, NM_001394003.1:c.549A>G, XM_047432277.1:c.549A>G, XM_047432284.1:c.549A>G

    2.

    rs1484861775 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      1:109281125 (GRCh38)
      1:109823748 (GRCh37)
      Canonical SPDI:
      NC_000001.11:109281125:GG:GGG
      Gene:
      PSRC1 (Varview)
      Functional Consequence:
      frameshift_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGG=0./0 (ALFA)
      G=0.00004/1 (TOMMO)
      G=0.00055/1 (Korea1K)
      HGVS:
      NC_000001.11:g.109281127dup, NC_000001.10:g.109823749dup, NM_001005290.4:c.645dup, NM_001005290.3:c.645dup, XM_017002560.3:c.645dup, XM_017002560.2:c.645dup, XM_017002560.1:c.645dup, NM_001350237.2:c.645dup, NM_001350237.1:c.645dup, XM_017002563.2:c.645dup, XM_017002563.1:c.645dup, XM_017002562.2:c.645dup, XM_017002562.1:c.645dup, XM_017002566.2:c.645dup, XM_017002566.1:c.645dup, XM_017002567.2:c.645dup, XM_017002567.1:c.645dup, XM_017002564.2:c.645dup, XM_017002564.1:c.645dup, NM_001363309.2:c.645dup, NM_001363309.1:c.645dup, NM_001350241.2:c.645dup, NM_001350241.1:c.645dup, NM_001350238.2:c.645dup, NM_001350238.1:c.645dup, NM_001350239.2:c.645dup, NM_001350239.1:c.645dup, NM_001350240.2:c.645dup, NM_001350240.1:c.645dup, NM_001350242.2:c.645dup, NM_001350242.1:c.645dup, XM_047432251.1:c.645dup, NM_001032290.1:c.645dup, NM_001394005.1:c.645dup, XM_047432274.1:c.645dup, NM_001394004.1:c.645dup, XM_047432275.1:c.645dup, XM_047432294.1:c.645dup, NM_001394003.1:c.645dup, XM_047432277.1:c.645dup, XM_047432284.1:c.645dup, NP_001005290.1:p.Arg216fs, XP_016858049.1:p.Arg216fs, NP_001337166.1:p.Arg216fs, XP_016858052.1:p.Arg216fs, XP_016858051.1:p.Arg216fs, XP_016858055.1:p.Arg216fs, XP_016858056.1:p.Arg216fs, XP_016858053.1:p.Arg216fs, NP_001350238.1:p.Arg216fs, NP_001337170.1:p.Arg216fs, NP_001337167.1:p.Arg216fs, NP_001337168.1:p.Arg216fs, NP_001337169.1:p.Arg216fs, NP_001337171.1:p.Arg216fs, XP_047288207.1:p.Arg216fs, NP_001380934.1:p.Arg216fs, XP_047288230.1:p.Arg216fs, NP_001380933.1:p.Arg216fs, XP_047288231.1:p.Arg216fs, XP_047288250.1:p.Arg216fs, NP_001380932.1:p.Arg216fs, XP_047288233.1:p.Arg216fs, XP_047288240.1:p.Arg216fs

      3.

      rs1481675403 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:109281202 (GRCh38)
        1:109823824 (GRCh37)
        Canonical SPDI:
        NC_000001.11:109281201:G:A
        Gene:
        PSRC1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000015/4 (TOPMED)
        HGVS:
        NC_000001.11:g.109281202G>A, NC_000001.10:g.109823824G>A, NM_032636.8:c.569C>T, NM_032636.7:c.569C>T, XM_005271283.4:c.569C>T, XM_005271283.3:c.569C>T, XM_005271283.2:c.569C>T, XM_005271283.1:c.569C>T, NM_001005290.4:c.569C>T, NM_001005290.3:c.569C>T, XM_017002560.3:c.569C>T, XM_017002560.2:c.569C>T, XM_017002560.1:c.569C>T, NM_001032291.3:c.569C>T, NM_001032291.2:c.569C>T, NM_001350237.2:c.569C>T, NM_001350237.1:c.569C>T, XM_017002563.2:c.569C>T, XM_017002563.1:c.569C>T, XM_017002562.2:c.569C>T, XM_017002562.1:c.569C>T, XM_017002566.2:c.569C>T, XM_017002566.1:c.569C>T, XM_017002567.2:c.569C>T, XM_017002567.1:c.569C>T, XM_017002564.2:c.569C>T, XM_017002564.1:c.569C>T, NM_001363309.2:c.569C>T, NM_001363309.1:c.569C>T, XM_017002569.2:c.569C>T, XM_017002569.1:c.569C>T, XM_017002570.2:c.569C>T, XM_017002570.1:c.569C>T, NM_001350241.2:c.569C>T, NM_001350241.1:c.569C>T, NM_001350238.2:c.569C>T, NM_001350238.1:c.569C>T, NM_001350239.2:c.569C>T, NM_001350239.1:c.569C>T, NM_001350240.2:c.569C>T, NM_001350240.1:c.569C>T, NM_001350242.2:c.569C>T, NM_001350242.1:c.569C>T, XM_047432251.1:c.569C>T, NM_001032290.1:c.569C>T, XM_047432264.1:c.569C>T, NM_001394005.1:c.569C>T, XM_047432255.1:c.569C>T, XM_047432272.1:c.569C>T, XM_047432274.1:c.569C>T, NM_001394002.1:c.569C>T, NM_001394004.1:c.569C>T, XM_047432275.1:c.569C>T, XM_047432294.1:c.569C>T, NM_001394003.1:c.569C>T, XM_047432277.1:c.569C>T, XM_047432284.1:c.569C>T, NP_116025.1:p.Ser190Phe, XP_005271340.1:p.Ser190Phe, NP_001005290.1:p.Ser190Phe, XP_016858049.1:p.Ser190Phe, NP_001027462.1:p.Ser190Phe, NP_001337166.1:p.Ser190Phe, XP_016858052.1:p.Ser190Phe, XP_016858051.1:p.Ser190Phe, XP_016858055.1:p.Ser190Phe, XP_016858056.1:p.Ser190Phe, XP_016858053.1:p.Ser190Phe, NP_001350238.1:p.Ser190Phe, XP_016858058.1:p.Ser190Phe, XP_016858059.1:p.Ser190Phe, NP_001337170.1:p.Ser190Phe, NP_001337167.1:p.Ser190Phe, NP_001337168.1:p.Ser190Phe, NP_001337169.1:p.Ser190Phe, NP_001337171.1:p.Ser190Phe, XP_047288207.1:p.Ser190Phe, XP_047288220.1:p.Ser190Phe, NP_001380934.1:p.Ser190Phe, XP_047288211.1:p.Ser190Phe, XP_047288228.1:p.Ser190Phe, XP_047288230.1:p.Ser190Phe, NP_001380931.1:p.Ser190Phe, NP_001380933.1:p.Ser190Phe, XP_047288231.1:p.Ser190Phe, XP_047288250.1:p.Ser190Phe, NP_001380932.1:p.Ser190Phe, XP_047288233.1:p.Ser190Phe, XP_047288240.1:p.Ser190Phe

        4.

        rs1481641465 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:109280894 (GRCh38)
          1:109823516 (GRCh37)
          Canonical SPDI:
          NC_000001.11:109280893:T:C
          Gene:
          PSRC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000016/4 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.109280894T>C, NC_000001.10:g.109823516T>C, NM_032636.8:c.787A>G, NM_032636.7:c.787A>G, XM_005271283.4:c.787A>G, XM_005271283.3:c.787A>G, XM_005271283.2:c.787A>G, XM_005271283.1:c.787A>G, NM_001005290.4:c.686A>G, NM_001005290.3:c.686A>G, XM_017002560.3:c.877A>G, XM_017002560.2:c.877A>G, XM_017002560.1:c.877A>G, NM_001032291.3:c.787A>G, NM_001032291.2:c.787A>G, NM_001350237.2:c.739A>G, NM_001350237.1:c.739A>G, XM_017002563.2:c.877A>G, XM_017002563.1:c.877A>G, XM_017002562.2:c.877A>G, XM_017002562.1:c.877A>G, XM_017002566.2:c.877A>G, XM_017002566.1:c.877A>G, XM_017002567.2:c.877A>G, XM_017002567.1:c.877A>G, XM_017002564.2:c.877A>G, XM_017002564.1:c.877A>G, NM_001363309.2:c.877A>G, NM_001363309.1:c.877A>G, XM_017002569.2:c.787A>G, XM_017002569.1:c.787A>G, XM_017002570.2:c.787A>G, XM_017002570.1:c.787A>G, NM_001350241.2:c.739A>G, NM_001350241.1:c.739A>G, NM_001350238.2:c.739A>G, NM_001350238.1:c.739A>G, NM_001350239.2:c.739A>G, NM_001350239.1:c.739A>G, NM_001350240.2:c.739A>G, NM_001350240.1:c.739A>G, NM_001350242.2:c.739A>G, NM_001350242.1:c.739A>G, XM_047432251.1:c.877A>G, NM_001032290.1:c.877A>G, XM_047432264.1:c.787A>G, NM_001394005.1:c.877A>G, XM_047432255.1:c.787A>G, XM_047432272.1:c.787A>G, XM_047432274.1:c.739A>G, NM_001394002.1:c.787A>G, NM_001394004.1:c.686A>G, XM_047432275.1:c.739A>G, XM_047432294.1:c.686A>G, NM_001394003.1:c.686A>G, XM_047432277.1:c.686A>G, XM_047432284.1:c.686A>G, NP_116025.1:p.Thr263Ala, XP_005271340.1:p.Thr263Ala, NP_001005290.1:p.His229Arg, XP_016858049.1:p.Thr293Ala, NP_001027462.1:p.Thr263Ala, NP_001337166.1:p.Thr247Ala, XP_016858052.1:p.Thr293Ala, XP_016858051.1:p.Thr293Ala, XP_016858055.1:p.Thr293Ala, XP_016858056.1:p.Thr293Ala, XP_016858053.1:p.Thr293Ala, NP_001350238.1:p.Thr293Ala, XP_016858058.1:p.Thr263Ala, XP_016858059.1:p.Thr263Ala, NP_001337170.1:p.Thr247Ala, NP_001337167.1:p.Thr247Ala, NP_001337168.1:p.Thr247Ala, NP_001337169.1:p.Thr247Ala, NP_001337171.1:p.Thr247Ala, XP_047288207.1:p.Thr293Ala, XP_047288220.1:p.Thr263Ala, NP_001380934.1:p.Thr293Ala, XP_047288211.1:p.Thr263Ala, XP_047288228.1:p.Thr263Ala, XP_047288230.1:p.Thr247Ala, NP_001380931.1:p.Thr263Ala, NP_001380933.1:p.His229Arg, XP_047288231.1:p.Thr247Ala, XP_047288250.1:p.His229Arg, NP_001380932.1:p.His229Arg, XP_047288233.1:p.His229Arg, XP_047288240.1:p.His229Arg

          5.

          rs1480741774 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:109281727 (GRCh38)
            1:109824349 (GRCh37)
            Canonical SPDI:
            NC_000001.11:109281726:G:T
            Gene:
            PSRC1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000001.11:g.109281727G>T, NC_000001.10:g.109824349G>T, NM_032636.8:c.411C>A, NM_032636.7:c.411C>A, XM_005271283.4:c.411C>A, XM_005271283.3:c.411C>A, XM_005271283.2:c.411C>A, XM_005271283.1:c.411C>A, NM_001005290.4:c.411C>A, NM_001005290.3:c.411C>A, XM_017002560.3:c.411C>A, XM_017002560.2:c.411C>A, XM_017002560.1:c.411C>A, NM_001032291.3:c.411C>A, NM_001032291.2:c.411C>A, NM_001350237.2:c.411C>A, NM_001350237.1:c.411C>A, XM_017002563.2:c.411C>A, XM_017002563.1:c.411C>A, XM_017002562.2:c.411C>A, XM_017002562.1:c.411C>A, XM_017002566.2:c.411C>A, XM_017002566.1:c.411C>A, XM_017002567.2:c.411C>A, XM_017002567.1:c.411C>A, XM_017002564.2:c.411C>A, XM_017002564.1:c.411C>A, NM_001363309.2:c.411C>A, NM_001363309.1:c.411C>A, XM_017002569.2:c.411C>A, XM_017002569.1:c.411C>A, XM_017002570.2:c.411C>A, XM_017002570.1:c.411C>A, NM_001350241.2:c.411C>A, NM_001350241.1:c.411C>A, NM_001350238.2:c.411C>A, NM_001350238.1:c.411C>A, NM_001350239.2:c.411C>A, NM_001350239.1:c.411C>A, NM_001350240.2:c.411C>A, NM_001350240.1:c.411C>A, NM_001350242.2:c.411C>A, NM_001350242.1:c.411C>A, XM_047432251.1:c.411C>A, NM_001032290.1:c.411C>A, XM_047432264.1:c.411C>A, NM_001394005.1:c.411C>A, XM_047432255.1:c.411C>A, XM_047432272.1:c.411C>A, XM_047432274.1:c.411C>A, NM_001394002.1:c.411C>A, NM_001394004.1:c.411C>A, XM_047432275.1:c.411C>A, XM_047432294.1:c.411C>A, NM_001394003.1:c.411C>A, XM_047432277.1:c.411C>A, XM_047432284.1:c.411C>A, NP_116025.1:p.Ser137Arg, XP_005271340.1:p.Ser137Arg, NP_001005290.1:p.Ser137Arg, XP_016858049.1:p.Ser137Arg, NP_001027462.1:p.Ser137Arg, NP_001337166.1:p.Ser137Arg, XP_016858052.1:p.Ser137Arg, XP_016858051.1:p.Ser137Arg, XP_016858055.1:p.Ser137Arg, XP_016858056.1:p.Ser137Arg, XP_016858053.1:p.Ser137Arg, NP_001350238.1:p.Ser137Arg, XP_016858058.1:p.Ser137Arg, XP_016858059.1:p.Ser137Arg, NP_001337170.1:p.Ser137Arg, NP_001337167.1:p.Ser137Arg, NP_001337168.1:p.Ser137Arg, NP_001337169.1:p.Ser137Arg, NP_001337171.1:p.Ser137Arg, XP_047288207.1:p.Ser137Arg, XP_047288220.1:p.Ser137Arg, NP_001380934.1:p.Ser137Arg, XP_047288211.1:p.Ser137Arg, XP_047288228.1:p.Ser137Arg, XP_047288230.1:p.Ser137Arg, NP_001380931.1:p.Ser137Arg, NP_001380933.1:p.Ser137Arg, XP_047288231.1:p.Ser137Arg, XP_047288250.1:p.Ser137Arg, NP_001380932.1:p.Ser137Arg, XP_047288233.1:p.Ser137Arg, XP_047288240.1:p.Ser137Arg

            6.

            rs1471971566 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              1:109281917 (GRCh38)
              1:109824539 (GRCh37)
              Canonical SPDI:
              NC_000001.11:109281916:A:G,NC_000001.11:109281916:A:T
              Gene:
              PSRC1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.109281917A>G, NC_000001.11:g.109281917A>T, NC_000001.10:g.109824539A>G, NC_000001.10:g.109824539A>T, NM_032636.8:c.221T>C, NM_032636.8:c.221T>A, NM_032636.7:c.221T>C, NM_032636.7:c.221T>A, XM_005271283.4:c.221T>C, XM_005271283.4:c.221T>A, XM_005271283.3:c.221T>C, XM_005271283.3:c.221T>A, XM_005271283.2:c.221T>C, XM_005271283.2:c.221T>A, XM_005271283.1:c.221T>C, XM_005271283.1:c.221T>A, NM_001005290.4:c.221T>C, NM_001005290.4:c.221T>A, NM_001005290.3:c.221T>C, NM_001005290.3:c.221T>A, XM_017002560.3:c.221T>C, XM_017002560.3:c.221T>A, XM_017002560.2:c.221T>C, XM_017002560.2:c.221T>A, XM_017002560.1:c.221T>C, XM_017002560.1:c.221T>A, NM_001032291.3:c.221T>C, NM_001032291.3:c.221T>A, NM_001032291.2:c.221T>C, NM_001032291.2:c.221T>A, NM_001350237.2:c.221T>C, NM_001350237.2:c.221T>A, NM_001350237.1:c.221T>C, NM_001350237.1:c.221T>A, XM_017002563.2:c.221T>C, XM_017002563.2:c.221T>A, XM_017002563.1:c.221T>C, XM_017002563.1:c.221T>A, XM_017002562.2:c.221T>C, XM_017002562.2:c.221T>A, XM_017002562.1:c.221T>C, XM_017002562.1:c.221T>A, XM_017002566.2:c.221T>C, XM_017002566.2:c.221T>A, XM_017002566.1:c.221T>C, XM_017002566.1:c.221T>A, XM_017002567.2:c.221T>C, XM_017002567.2:c.221T>A, XM_017002567.1:c.221T>C, XM_017002567.1:c.221T>A, XM_017002564.2:c.221T>C, XM_017002564.2:c.221T>A, XM_017002564.1:c.221T>C, XM_017002564.1:c.221T>A, NM_001363309.2:c.221T>C, NM_001363309.2:c.221T>A, NM_001363309.1:c.221T>C, NM_001363309.1:c.221T>A, XM_017002569.2:c.221T>C, XM_017002569.2:c.221T>A, XM_017002569.1:c.221T>C, XM_017002569.1:c.221T>A, XM_017002570.2:c.221T>C, XM_017002570.2:c.221T>A, XM_017002570.1:c.221T>C, XM_017002570.1:c.221T>A, NM_001350241.2:c.221T>C, NM_001350241.2:c.221T>A, NM_001350241.1:c.221T>C, NM_001350241.1:c.221T>A, NM_001350238.2:c.221T>C, NM_001350238.2:c.221T>A, NM_001350238.1:c.221T>C, NM_001350238.1:c.221T>A, NM_001350239.2:c.221T>C, NM_001350239.2:c.221T>A, NM_001350239.1:c.221T>C, NM_001350239.1:c.221T>A, NM_001350240.2:c.221T>C, NM_001350240.2:c.221T>A, NM_001350240.1:c.221T>C, NM_001350240.1:c.221T>A, NM_001350242.2:c.221T>C, NM_001350242.2:c.221T>A, NM_001350242.1:c.221T>C, NM_001350242.1:c.221T>A, XM_047432251.1:c.221T>C, XM_047432251.1:c.221T>A, NM_001032290.1:c.221T>C, NM_001032290.1:c.221T>A, XM_047432264.1:c.221T>C, XM_047432264.1:c.221T>A, NM_001394005.1:c.221T>C, NM_001394005.1:c.221T>A, XM_047432255.1:c.221T>C, XM_047432255.1:c.221T>A, XM_047432272.1:c.221T>C, XM_047432272.1:c.221T>A, XM_047432274.1:c.221T>C, XM_047432274.1:c.221T>A, NM_001394002.1:c.221T>C, NM_001394002.1:c.221T>A, NM_001394004.1:c.221T>C, NM_001394004.1:c.221T>A, XM_047432275.1:c.221T>C, XM_047432275.1:c.221T>A, XM_047432294.1:c.221T>C, XM_047432294.1:c.221T>A, NM_001394003.1:c.221T>C, NM_001394003.1:c.221T>A, XM_047432277.1:c.221T>C, XM_047432277.1:c.221T>A, XM_047432284.1:c.221T>C, XM_047432284.1:c.221T>A, NP_116025.1:p.Leu74Pro, NP_116025.1:p.Leu74Gln, XP_005271340.1:p.Leu74Pro, XP_005271340.1:p.Leu74Gln, NP_001005290.1:p.Leu74Pro, NP_001005290.1:p.Leu74Gln, XP_016858049.1:p.Leu74Pro, XP_016858049.1:p.Leu74Gln, NP_001027462.1:p.Leu74Pro, NP_001027462.1:p.Leu74Gln, NP_001337166.1:p.Leu74Pro, NP_001337166.1:p.Leu74Gln, XP_016858052.1:p.Leu74Pro, XP_016858052.1:p.Leu74Gln, XP_016858051.1:p.Leu74Pro, XP_016858051.1:p.Leu74Gln, XP_016858055.1:p.Leu74Pro, XP_016858055.1:p.Leu74Gln, XP_016858056.1:p.Leu74Pro, XP_016858056.1:p.Leu74Gln, XP_016858053.1:p.Leu74Pro, XP_016858053.1:p.Leu74Gln, NP_001350238.1:p.Leu74Pro, NP_001350238.1:p.Leu74Gln, XP_016858058.1:p.Leu74Pro, XP_016858058.1:p.Leu74Gln, XP_016858059.1:p.Leu74Pro, XP_016858059.1:p.Leu74Gln, NP_001337170.1:p.Leu74Pro, NP_001337170.1:p.Leu74Gln, NP_001337167.1:p.Leu74Pro, NP_001337167.1:p.Leu74Gln, NP_001337168.1:p.Leu74Pro, NP_001337168.1:p.Leu74Gln, NP_001337169.1:p.Leu74Pro, NP_001337169.1:p.Leu74Gln, NP_001337171.1:p.Leu74Pro, NP_001337171.1:p.Leu74Gln, XP_047288207.1:p.Leu74Pro, XP_047288207.1:p.Leu74Gln, XP_047288220.1:p.Leu74Pro, XP_047288220.1:p.Leu74Gln, NP_001380934.1:p.Leu74Pro, NP_001380934.1:p.Leu74Gln, XP_047288211.1:p.Leu74Pro, XP_047288211.1:p.Leu74Gln, XP_047288228.1:p.Leu74Pro, XP_047288228.1:p.Leu74Gln, XP_047288230.1:p.Leu74Pro, XP_047288230.1:p.Leu74Gln, NP_001380931.1:p.Leu74Pro, NP_001380931.1:p.Leu74Gln, NP_001380933.1:p.Leu74Pro, NP_001380933.1:p.Leu74Gln, XP_047288231.1:p.Leu74Pro, XP_047288231.1:p.Leu74Gln, XP_047288250.1:p.Leu74Pro, XP_047288250.1:p.Leu74Gln, NP_001380932.1:p.Leu74Pro, NP_001380932.1:p.Leu74Gln, XP_047288233.1:p.Leu74Pro, XP_047288233.1:p.Leu74Gln, XP_047288240.1:p.Leu74Pro, XP_047288240.1:p.Leu74Gln

              7.

              rs1471967037 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                1:109281144 (GRCh38)
                1:109823766 (GRCh37)
                Canonical SPDI:
                NC_000001.11:109281143:T:A,NC_000001.11:109281143:T:C
                Gene:
                PSRC1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                C=0.001639/3 (Korea1K)
                HGVS:
                NC_000001.11:g.109281144T>A, NC_000001.11:g.109281144T>C, NC_000001.10:g.109823766T>A, NC_000001.10:g.109823766T>C, NM_032636.8:c.627A>T, NM_032636.8:c.627A>G, NM_032636.7:c.627A>T, NM_032636.7:c.627A>G, XM_005271283.4:c.627A>T, XM_005271283.4:c.627A>G, XM_005271283.3:c.627A>T, XM_005271283.3:c.627A>G, XM_005271283.2:c.627A>T, XM_005271283.2:c.627A>G, XM_005271283.1:c.627A>T, XM_005271283.1:c.627A>G, NM_001005290.4:c.627A>T, NM_001005290.4:c.627A>G, NM_001005290.3:c.627A>T, NM_001005290.3:c.627A>G, XM_017002560.3:c.627A>T, XM_017002560.3:c.627A>G, XM_017002560.2:c.627A>T, XM_017002560.2:c.627A>G, XM_017002560.1:c.627A>T, XM_017002560.1:c.627A>G, NM_001032291.3:c.627A>T, NM_001032291.3:c.627A>G, NM_001032291.2:c.627A>T, NM_001032291.2:c.627A>G, NM_001350237.2:c.627A>T, NM_001350237.2:c.627A>G, NM_001350237.1:c.627A>T, NM_001350237.1:c.627A>G, XM_017002563.2:c.627A>T, XM_017002563.2:c.627A>G, XM_017002563.1:c.627A>T, XM_017002563.1:c.627A>G, XM_017002562.2:c.627A>T, XM_017002562.2:c.627A>G, XM_017002562.1:c.627A>T, XM_017002562.1:c.627A>G, XM_017002566.2:c.627A>T, XM_017002566.2:c.627A>G, XM_017002566.1:c.627A>T, XM_017002566.1:c.627A>G, XM_017002567.2:c.627A>T, XM_017002567.2:c.627A>G, XM_017002567.1:c.627A>T, XM_017002567.1:c.627A>G, XM_017002564.2:c.627A>T, XM_017002564.2:c.627A>G, XM_017002564.1:c.627A>T, XM_017002564.1:c.627A>G, NM_001363309.2:c.627A>T, NM_001363309.2:c.627A>G, NM_001363309.1:c.627A>T, NM_001363309.1:c.627A>G, XM_017002569.2:c.627A>T, XM_017002569.2:c.627A>G, XM_017002569.1:c.627A>T, XM_017002569.1:c.627A>G, XM_017002570.2:c.627A>T, XM_017002570.2:c.627A>G, XM_017002570.1:c.627A>T, XM_017002570.1:c.627A>G, NM_001350241.2:c.627A>T, NM_001350241.2:c.627A>G, NM_001350241.1:c.627A>T, NM_001350241.1:c.627A>G, NM_001350238.2:c.627A>T, NM_001350238.2:c.627A>G, NM_001350238.1:c.627A>T, NM_001350238.1:c.627A>G, NM_001350239.2:c.627A>T, NM_001350239.2:c.627A>G, NM_001350239.1:c.627A>T, NM_001350239.1:c.627A>G, NM_001350240.2:c.627A>T, NM_001350240.2:c.627A>G, NM_001350240.1:c.627A>T, NM_001350240.1:c.627A>G, NM_001350242.2:c.627A>T, NM_001350242.2:c.627A>G, NM_001350242.1:c.627A>T, NM_001350242.1:c.627A>G, XM_047432251.1:c.627A>T, XM_047432251.1:c.627A>G, NM_001032290.1:c.627A>T, NM_001032290.1:c.627A>G, XM_047432264.1:c.627A>T, XM_047432264.1:c.627A>G, NM_001394005.1:c.627A>T, NM_001394005.1:c.627A>G, XM_047432255.1:c.627A>T, XM_047432255.1:c.627A>G, XM_047432272.1:c.627A>T, XM_047432272.1:c.627A>G, XM_047432274.1:c.627A>T, XM_047432274.1:c.627A>G, NM_001394002.1:c.627A>T, NM_001394002.1:c.627A>G, NM_001394004.1:c.627A>T, NM_001394004.1:c.627A>G, XM_047432275.1:c.627A>T, XM_047432275.1:c.627A>G, XM_047432294.1:c.627A>T, XM_047432294.1:c.627A>G, NM_001394003.1:c.627A>T, NM_001394003.1:c.627A>G, XM_047432277.1:c.627A>T, XM_047432277.1:c.627A>G, XM_047432284.1:c.627A>T, XM_047432284.1:c.627A>G

                8.

                rs1467538008 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:109280410 (GRCh38)
                  1:109823032 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:109280409:G:A,NC_000001.11:109280409:G:T
                  Gene:
                  PSRC1 (Varview)
                  Functional Consequence:
                  synonymous_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000001.11:g.109280410G>A, NC_000001.11:g.109280410G>T, NC_000001.10:g.109823032G>A, NC_000001.10:g.109823032G>T, NM_032636.8:c.984C>T, NM_032636.8:c.984C>A, NM_032636.7:c.984C>T, NM_032636.7:c.984C>A, XM_005271283.4:c.984C>T, XM_005271283.4:c.984C>A, XM_005271283.3:c.984C>T, XM_005271283.3:c.984C>A, XM_005271283.2:c.984C>T, XM_005271283.2:c.984C>A, XM_005271283.1:c.984C>T, XM_005271283.1:c.984C>A, NM_001005290.4:c.883C>T, NM_001005290.4:c.883C>A, NM_001005290.3:c.883C>T, NM_001005290.3:c.883C>A, XM_017002560.3:c.1074C>T, XM_017002560.3:c.1074C>A, XM_017002560.2:c.1074C>T, XM_017002560.2:c.1074C>A, XM_017002560.1:c.1074C>T, XM_017002560.1:c.1074C>A, NM_001032291.3:c.984C>T, NM_001032291.3:c.984C>A, NM_001032291.2:c.984C>T, NM_001032291.2:c.984C>A, NM_001350237.2:c.936C>T, NM_001350237.2:c.936C>A, NM_001350237.1:c.936C>T, NM_001350237.1:c.936C>A, XM_017002563.2:c.1074C>T, XM_017002563.2:c.1074C>A, XM_017002563.1:c.1074C>T, XM_017002563.1:c.1074C>A, XM_017002562.2:c.1074C>T, XM_017002562.2:c.1074C>A, XM_017002562.1:c.1074C>T, XM_017002562.1:c.1074C>A, XM_017002566.2:c.1074C>T, XM_017002566.2:c.1074C>A, XM_017002566.1:c.1074C>T, XM_017002566.1:c.1074C>A, XM_017002567.2:c.1074C>T, XM_017002567.2:c.1074C>A, XM_017002567.1:c.1074C>T, XM_017002567.1:c.1074C>A, XM_017002564.2:c.1074C>T, XM_017002564.2:c.1074C>A, XM_017002564.1:c.1074C>T, XM_017002564.1:c.1074C>A, NM_001363309.2:c.1074C>T, NM_001363309.2:c.1074C>A, NM_001363309.1:c.1074C>T, NM_001363309.1:c.1074C>A, XM_017002569.2:c.984C>T, XM_017002569.2:c.984C>A, XM_017002569.1:c.984C>T, XM_017002569.1:c.984C>A, XM_017002570.2:c.984C>T, XM_017002570.2:c.984C>A, XM_017002570.1:c.984C>T, XM_017002570.1:c.984C>A, NM_001350241.2:c.936C>T, NM_001350241.2:c.936C>A, NM_001350241.1:c.936C>T, NM_001350241.1:c.936C>A, NM_001350238.2:c.936C>T, NM_001350238.2:c.936C>A, NM_001350238.1:c.936C>T, NM_001350238.1:c.936C>A, NM_001350239.2:c.936C>T, NM_001350239.2:c.936C>A, NM_001350239.1:c.936C>T, NM_001350239.1:c.936C>A, NM_001350240.2:c.936C>T, NM_001350240.2:c.936C>A, NM_001350240.1:c.936C>T, NM_001350240.1:c.936C>A, NM_001350242.2:c.936C>T, NM_001350242.2:c.936C>A, NM_001350242.1:c.936C>T, NM_001350242.1:c.936C>A, XM_047432251.1:c.1074C>T, XM_047432251.1:c.1074C>A, NM_001032290.1:c.1074C>T, NM_001032290.1:c.1074C>A, XM_047432264.1:c.984C>T, XM_047432264.1:c.984C>A, NM_001394005.1:c.1074C>T, NM_001394005.1:c.1074C>A, XM_047432255.1:c.984C>T, XM_047432255.1:c.984C>A, XM_047432272.1:c.984C>T, XM_047432272.1:c.984C>A, XM_047432274.1:c.936C>T, XM_047432274.1:c.936C>A, NM_001394002.1:c.984C>T, NM_001394002.1:c.984C>A, NM_001394004.1:c.883C>T, NM_001394004.1:c.883C>A, XM_047432275.1:c.936C>T, XM_047432275.1:c.936C>A, XM_047432294.1:c.883C>T, XM_047432294.1:c.883C>A, NM_001394003.1:c.883C>T, NM_001394003.1:c.883C>A, XM_047432277.1:c.883C>T, XM_047432277.1:c.883C>A, XM_047432284.1:c.883C>T, XM_047432284.1:c.883C>A, NP_001005290.1:p.Pro295Ser, NP_001005290.1:p.Pro295Thr, NP_001380933.1:p.Pro295Ser, NP_001380933.1:p.Pro295Thr, XP_047288250.1:p.Pro295Ser, XP_047288250.1:p.Pro295Thr, NP_001380932.1:p.Pro295Ser, NP_001380932.1:p.Pro295Thr, XP_047288233.1:p.Pro295Ser, XP_047288233.1:p.Pro295Thr, XP_047288240.1:p.Pro295Ser, XP_047288240.1:p.Pro295Thr

                  9.

                  rs1464571354 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:109280831 (GRCh38)
                    1:109823453 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:109280830:C:G
                    Gene:
                    PSRC1 (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_000001.11:g.109280831C>G, NC_000001.10:g.109823453C>G, NM_032636.8:c.850G>C, NM_032636.7:c.850G>C, XM_005271283.4:c.850G>C, XM_005271283.3:c.850G>C, XM_005271283.2:c.850G>C, XM_005271283.1:c.850G>C, NM_001005290.4:c.749G>C, NM_001005290.3:c.749G>C, XM_017002560.3:c.940G>C, XM_017002560.2:c.940G>C, XM_017002560.1:c.940G>C, NM_001032291.3:c.850G>C, NM_001032291.2:c.850G>C, NM_001350237.2:c.802G>C, NM_001350237.1:c.802G>C, XM_017002563.2:c.940G>C, XM_017002563.1:c.940G>C, XM_017002562.2:c.940G>C, XM_017002562.1:c.940G>C, XM_017002566.2:c.940G>C, XM_017002566.1:c.940G>C, XM_017002567.2:c.940G>C, XM_017002567.1:c.940G>C, XM_017002564.2:c.940G>C, XM_017002564.1:c.940G>C, NM_001363309.2:c.940G>C, NM_001363309.1:c.940G>C, XM_017002569.2:c.850G>C, XM_017002569.1:c.850G>C, XM_017002570.2:c.850G>C, XM_017002570.1:c.850G>C, NM_001350241.2:c.802G>C, NM_001350241.1:c.802G>C, NM_001350238.2:c.802G>C, NM_001350238.1:c.802G>C, NM_001350239.2:c.802G>C, NM_001350239.1:c.802G>C, NM_001350240.2:c.802G>C, NM_001350240.1:c.802G>C, NM_001350242.2:c.802G>C, NM_001350242.1:c.802G>C, XM_047432251.1:c.940G>C, NM_001032290.1:c.940G>C, XM_047432264.1:c.850G>C, NM_001394005.1:c.940G>C, XM_047432255.1:c.850G>C, XM_047432272.1:c.850G>C, XM_047432274.1:c.802G>C, NM_001394002.1:c.850G>C, NM_001394004.1:c.749G>C, XM_047432275.1:c.802G>C, XM_047432294.1:c.749G>C, NM_001394003.1:c.749G>C, XM_047432277.1:c.749G>C, XM_047432284.1:c.749G>C, NP_116025.1:p.Gly284Arg, XP_005271340.1:p.Gly284Arg, NP_001005290.1:p.Arg250Thr, XP_016858049.1:p.Gly314Arg, NP_001027462.1:p.Gly284Arg, NP_001337166.1:p.Gly268Arg, XP_016858052.1:p.Gly314Arg, XP_016858051.1:p.Gly314Arg, XP_016858055.1:p.Gly314Arg, XP_016858056.1:p.Gly314Arg, XP_016858053.1:p.Gly314Arg, NP_001350238.1:p.Gly314Arg, XP_016858058.1:p.Gly284Arg, XP_016858059.1:p.Gly284Arg, NP_001337170.1:p.Gly268Arg, NP_001337167.1:p.Gly268Arg, NP_001337168.1:p.Gly268Arg, NP_001337169.1:p.Gly268Arg, NP_001337171.1:p.Gly268Arg, XP_047288207.1:p.Gly314Arg, XP_047288220.1:p.Gly284Arg, NP_001380934.1:p.Gly314Arg, XP_047288211.1:p.Gly284Arg, XP_047288228.1:p.Gly284Arg, XP_047288230.1:p.Gly268Arg, NP_001380931.1:p.Gly284Arg, NP_001380933.1:p.Arg250Thr, XP_047288231.1:p.Gly268Arg, XP_047288250.1:p.Arg250Thr, NP_001380932.1:p.Arg250Thr, XP_047288233.1:p.Arg250Thr, XP_047288240.1:p.Arg250Thr

                    10.

                    rs1462213553 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      1:109281713 (GRCh38)
                      1:109824335 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:109281712:C:G,NC_000001.11:109281712:C:T
                      Gene:
                      PSRC1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.109281713C>G, NC_000001.11:g.109281713C>T, NC_000001.10:g.109824335C>G, NC_000001.10:g.109824335C>T, NM_032636.8:c.425G>C, NM_032636.8:c.425G>A, NM_032636.7:c.425G>C, NM_032636.7:c.425G>A, XM_005271283.4:c.425G>C, XM_005271283.4:c.425G>A, XM_005271283.3:c.425G>C, XM_005271283.3:c.425G>A, XM_005271283.2:c.425G>C, XM_005271283.2:c.425G>A, XM_005271283.1:c.425G>C, XM_005271283.1:c.425G>A, NM_001005290.4:c.425G>C, NM_001005290.4:c.425G>A, NM_001005290.3:c.425G>C, NM_001005290.3:c.425G>A, XM_017002560.3:c.425G>C, XM_017002560.3:c.425G>A, XM_017002560.2:c.425G>C, XM_017002560.2:c.425G>A, XM_017002560.1:c.425G>C, XM_017002560.1:c.425G>A, NM_001032291.3:c.425G>C, NM_001032291.3:c.425G>A, NM_001032291.2:c.425G>C, NM_001032291.2:c.425G>A, NM_001350237.2:c.425G>C, NM_001350237.2:c.425G>A, NM_001350237.1:c.425G>C, NM_001350237.1:c.425G>A, XM_017002563.2:c.425G>C, XM_017002563.2:c.425G>A, XM_017002563.1:c.425G>C, XM_017002563.1:c.425G>A, XM_017002562.2:c.425G>C, XM_017002562.2:c.425G>A, XM_017002562.1:c.425G>C, XM_017002562.1:c.425G>A, XM_017002566.2:c.425G>C, XM_017002566.2:c.425G>A, XM_017002566.1:c.425G>C, XM_017002566.1:c.425G>A, XM_017002567.2:c.425G>C, XM_017002567.2:c.425G>A, XM_017002567.1:c.425G>C, XM_017002567.1:c.425G>A, XM_017002564.2:c.425G>C, XM_017002564.2:c.425G>A, XM_017002564.1:c.425G>C, XM_017002564.1:c.425G>A, NM_001363309.2:c.425G>C, NM_001363309.2:c.425G>A, NM_001363309.1:c.425G>C, NM_001363309.1:c.425G>A, XM_017002569.2:c.425G>C, XM_017002569.2:c.425G>A, XM_017002569.1:c.425G>C, XM_017002569.1:c.425G>A, XM_017002570.2:c.425G>C, XM_017002570.2:c.425G>A, XM_017002570.1:c.425G>C, XM_017002570.1:c.425G>A, NM_001350241.2:c.425G>C, NM_001350241.2:c.425G>A, NM_001350241.1:c.425G>C, NM_001350241.1:c.425G>A, NM_001350238.2:c.425G>C, NM_001350238.2:c.425G>A, NM_001350238.1:c.425G>C, NM_001350238.1:c.425G>A, NM_001350239.2:c.425G>C, NM_001350239.2:c.425G>A, NM_001350239.1:c.425G>C, NM_001350239.1:c.425G>A, NM_001350240.2:c.425G>C, NM_001350240.2:c.425G>A, NM_001350240.1:c.425G>C, NM_001350240.1:c.425G>A, NM_001350242.2:c.425G>C, NM_001350242.2:c.425G>A, NM_001350242.1:c.425G>C, NM_001350242.1:c.425G>A, XM_047432251.1:c.425G>C, XM_047432251.1:c.425G>A, NM_001032290.1:c.425G>C, NM_001032290.1:c.425G>A, XM_047432264.1:c.425G>C, XM_047432264.1:c.425G>A, NM_001394005.1:c.425G>C, NM_001394005.1:c.425G>A, XM_047432255.1:c.425G>C, XM_047432255.1:c.425G>A, XM_047432272.1:c.425G>C, XM_047432272.1:c.425G>A, XM_047432274.1:c.425G>C, XM_047432274.1:c.425G>A, NM_001394002.1:c.425G>C, NM_001394002.1:c.425G>A, NM_001394004.1:c.425G>C, NM_001394004.1:c.425G>A, XM_047432275.1:c.425G>C, XM_047432275.1:c.425G>A, XM_047432294.1:c.425G>C, XM_047432294.1:c.425G>A, NM_001394003.1:c.425G>C, NM_001394003.1:c.425G>A, XM_047432277.1:c.425G>C, XM_047432277.1:c.425G>A, XM_047432284.1:c.425G>C, XM_047432284.1:c.425G>A, NP_116025.1:p.Ser142Thr, NP_116025.1:p.Ser142Asn, XP_005271340.1:p.Ser142Thr, XP_005271340.1:p.Ser142Asn, NP_001005290.1:p.Ser142Thr, NP_001005290.1:p.Ser142Asn, XP_016858049.1:p.Ser142Thr, XP_016858049.1:p.Ser142Asn, NP_001027462.1:p.Ser142Thr, NP_001027462.1:p.Ser142Asn, NP_001337166.1:p.Ser142Thr, NP_001337166.1:p.Ser142Asn, XP_016858052.1:p.Ser142Thr, XP_016858052.1:p.Ser142Asn, XP_016858051.1:p.Ser142Thr, XP_016858051.1:p.Ser142Asn, XP_016858055.1:p.Ser142Thr, XP_016858055.1:p.Ser142Asn, XP_016858056.1:p.Ser142Thr, XP_016858056.1:p.Ser142Asn, XP_016858053.1:p.Ser142Thr, XP_016858053.1:p.Ser142Asn, NP_001350238.1:p.Ser142Thr, NP_001350238.1:p.Ser142Asn, XP_016858058.1:p.Ser142Thr, XP_016858058.1:p.Ser142Asn, XP_016858059.1:p.Ser142Thr, XP_016858059.1:p.Ser142Asn, NP_001337170.1:p.Ser142Thr, NP_001337170.1:p.Ser142Asn, NP_001337167.1:p.Ser142Thr, NP_001337167.1:p.Ser142Asn, NP_001337168.1:p.Ser142Thr, NP_001337168.1:p.Ser142Asn, NP_001337169.1:p.Ser142Thr, NP_001337169.1:p.Ser142Asn, NP_001337171.1:p.Ser142Thr, NP_001337171.1:p.Ser142Asn, XP_047288207.1:p.Ser142Thr, XP_047288207.1:p.Ser142Asn, XP_047288220.1:p.Ser142Thr, XP_047288220.1:p.Ser142Asn, NP_001380934.1:p.Ser142Thr, NP_001380934.1:p.Ser142Asn, XP_047288211.1:p.Ser142Thr, XP_047288211.1:p.Ser142Asn, XP_047288228.1:p.Ser142Thr, XP_047288228.1:p.Ser142Asn, XP_047288230.1:p.Ser142Thr, XP_047288230.1:p.Ser142Asn, NP_001380931.1:p.Ser142Thr, NP_001380931.1:p.Ser142Asn, NP_001380933.1:p.Ser142Thr, NP_001380933.1:p.Ser142Asn, XP_047288231.1:p.Ser142Thr, XP_047288231.1:p.Ser142Asn, XP_047288250.1:p.Ser142Thr, XP_047288250.1:p.Ser142Asn, NP_001380932.1:p.Ser142Thr, NP_001380932.1:p.Ser142Asn, XP_047288233.1:p.Ser142Thr, XP_047288233.1:p.Ser142Asn, XP_047288240.1:p.Ser142Thr, XP_047288240.1:p.Ser142Asn

                      11.

                      rs1461052941 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:109281865 (GRCh38)
                        1:109824487 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:109281864:A:G
                        Gene:
                        PSRC1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.109281865A>G, NC_000001.10:g.109824487A>G, NM_032636.8:c.273T>C, NM_032636.7:c.273T>C, XM_005271283.4:c.273T>C, XM_005271283.3:c.273T>C, XM_005271283.2:c.273T>C, XM_005271283.1:c.273T>C, NM_001005290.4:c.273T>C, NM_001005290.3:c.273T>C, XM_017002560.3:c.273T>C, XM_017002560.2:c.273T>C, XM_017002560.1:c.273T>C, NM_001032291.3:c.273T>C, NM_001032291.2:c.273T>C, NM_001350237.2:c.273T>C, NM_001350237.1:c.273T>C, XM_017002563.2:c.273T>C, XM_017002563.1:c.273T>C, XM_017002562.2:c.273T>C, XM_017002562.1:c.273T>C, XM_017002566.2:c.273T>C, XM_017002566.1:c.273T>C, XM_017002567.2:c.273T>C, XM_017002567.1:c.273T>C, XM_017002564.2:c.273T>C, XM_017002564.1:c.273T>C, NM_001363309.2:c.273T>C, NM_001363309.1:c.273T>C, XM_017002569.2:c.273T>C, XM_017002569.1:c.273T>C, XM_017002570.2:c.273T>C, XM_017002570.1:c.273T>C, NM_001350241.2:c.273T>C, NM_001350241.1:c.273T>C, NM_001350238.2:c.273T>C, NM_001350238.1:c.273T>C, NM_001350239.2:c.273T>C, NM_001350239.1:c.273T>C, NM_001350240.2:c.273T>C, NM_001350240.1:c.273T>C, NM_001350242.2:c.273T>C, NM_001350242.1:c.273T>C, XM_047432251.1:c.273T>C, NM_001032290.1:c.273T>C, XM_047432264.1:c.273T>C, NM_001394005.1:c.273T>C, XM_047432255.1:c.273T>C, XM_047432272.1:c.273T>C, XM_047432274.1:c.273T>C, NM_001394002.1:c.273T>C, NM_001394004.1:c.273T>C, XM_047432275.1:c.273T>C, XM_047432294.1:c.273T>C, NM_001394003.1:c.273T>C, XM_047432277.1:c.273T>C, XM_047432284.1:c.273T>C

                        12.

                        rs1459968993 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          1:109280421 (GRCh38)
                          1:109823043 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:109280420:T:A
                          Gene:
                          PSRC1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,stop_gained
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.109280421T>A, NC_000001.10:g.109823043T>A, NM_032636.8:c.973A>T, NM_032636.7:c.973A>T, XM_005271283.4:c.973A>T, XM_005271283.3:c.973A>T, XM_005271283.2:c.973A>T, XM_005271283.1:c.973A>T, NM_001005290.4:c.872A>T, NM_001005290.3:c.872A>T, XM_017002560.3:c.1063A>T, XM_017002560.2:c.1063A>T, XM_017002560.1:c.1063A>T, NM_001032291.3:c.973A>T, NM_001032291.2:c.973A>T, NM_001350237.2:c.925A>T, NM_001350237.1:c.925A>T, XM_017002563.2:c.1063A>T, XM_017002563.1:c.1063A>T, XM_017002562.2:c.1063A>T, XM_017002562.1:c.1063A>T, XM_017002566.2:c.1063A>T, XM_017002566.1:c.1063A>T, XM_017002567.2:c.1063A>T, XM_017002567.1:c.1063A>T, XM_017002564.2:c.1063A>T, XM_017002564.1:c.1063A>T, NM_001363309.2:c.1063A>T, NM_001363309.1:c.1063A>T, XM_017002569.2:c.973A>T, XM_017002569.1:c.973A>T, XM_017002570.2:c.973A>T, XM_017002570.1:c.973A>T, NM_001350241.2:c.925A>T, NM_001350241.1:c.925A>T, NM_001350238.2:c.925A>T, NM_001350238.1:c.925A>T, NM_001350239.2:c.925A>T, NM_001350239.1:c.925A>T, NM_001350240.2:c.925A>T, NM_001350240.1:c.925A>T, NM_001350242.2:c.925A>T, NM_001350242.1:c.925A>T, XM_047432251.1:c.1063A>T, NM_001032290.1:c.1063A>T, XM_047432264.1:c.973A>T, NM_001394005.1:c.1063A>T, XM_047432255.1:c.973A>T, XM_047432272.1:c.973A>T, XM_047432274.1:c.925A>T, NM_001394002.1:c.973A>T, NM_001394004.1:c.872A>T, XM_047432275.1:c.925A>T, XM_047432294.1:c.872A>T, NM_001394003.1:c.872A>T, XM_047432277.1:c.872A>T, XM_047432284.1:c.872A>T, NP_116025.1:p.Lys325Ter, XP_005271340.1:p.Lys325Ter, NP_001005290.1:p.Glu291Val, XP_016858049.1:p.Lys355Ter, NP_001027462.1:p.Lys325Ter, NP_001337166.1:p.Lys309Ter, XP_016858052.1:p.Lys355Ter, XP_016858051.1:p.Lys355Ter, XP_016858055.1:p.Lys355Ter, XP_016858056.1:p.Lys355Ter, XP_016858053.1:p.Lys355Ter, NP_001350238.1:p.Lys355Ter, XP_016858058.1:p.Lys325Ter, XP_016858059.1:p.Lys325Ter, NP_001337170.1:p.Lys309Ter, NP_001337167.1:p.Lys309Ter, NP_001337168.1:p.Lys309Ter, NP_001337169.1:p.Lys309Ter, NP_001337171.1:p.Lys309Ter, XP_047288207.1:p.Lys355Ter, XP_047288220.1:p.Lys325Ter, NP_001380934.1:p.Lys355Ter, XP_047288211.1:p.Lys325Ter, XP_047288228.1:p.Lys325Ter, XP_047288230.1:p.Lys309Ter, NP_001380931.1:p.Lys325Ter, NP_001380933.1:p.Glu291Val, XP_047288231.1:p.Lys309Ter, XP_047288250.1:p.Glu291Val, NP_001380932.1:p.Glu291Val, XP_047288233.1:p.Glu291Val, XP_047288240.1:p.Glu291Val

                          13.

                          rs1457461517 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:109281814 (GRCh38)
                            1:109824436 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:109281813:C:T
                            Gene:
                            PSRC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.109281814C>T, NC_000001.10:g.109824436C>T, NM_032636.8:c.324G>A, NM_032636.7:c.324G>A, XM_005271283.4:c.324G>A, XM_005271283.3:c.324G>A, XM_005271283.2:c.324G>A, XM_005271283.1:c.324G>A, NM_001005290.4:c.324G>A, NM_001005290.3:c.324G>A, XM_017002560.3:c.324G>A, XM_017002560.2:c.324G>A, XM_017002560.1:c.324G>A, NM_001032291.3:c.324G>A, NM_001032291.2:c.324G>A, NM_001350237.2:c.324G>A, NM_001350237.1:c.324G>A, XM_017002563.2:c.324G>A, XM_017002563.1:c.324G>A, XM_017002562.2:c.324G>A, XM_017002562.1:c.324G>A, XM_017002566.2:c.324G>A, XM_017002566.1:c.324G>A, XM_017002567.2:c.324G>A, XM_017002567.1:c.324G>A, XM_017002564.2:c.324G>A, XM_017002564.1:c.324G>A, NM_001363309.2:c.324G>A, NM_001363309.1:c.324G>A, XM_017002569.2:c.324G>A, XM_017002569.1:c.324G>A, XM_017002570.2:c.324G>A, XM_017002570.1:c.324G>A, NM_001350241.2:c.324G>A, NM_001350241.1:c.324G>A, NM_001350238.2:c.324G>A, NM_001350238.1:c.324G>A, NM_001350239.2:c.324G>A, NM_001350239.1:c.324G>A, NM_001350240.2:c.324G>A, NM_001350240.1:c.324G>A, NM_001350242.2:c.324G>A, NM_001350242.1:c.324G>A, XM_047432251.1:c.324G>A, NM_001032290.1:c.324G>A, XM_047432264.1:c.324G>A, NM_001394005.1:c.324G>A, XM_047432255.1:c.324G>A, XM_047432272.1:c.324G>A, XM_047432274.1:c.324G>A, NM_001394002.1:c.324G>A, NM_001394004.1:c.324G>A, XM_047432275.1:c.324G>A, XM_047432294.1:c.324G>A, NM_001394003.1:c.324G>A, XM_047432277.1:c.324G>A, XM_047432284.1:c.324G>A

                            14.

                            rs1449244148 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              1:109280454 (GRCh38)
                              1:109823076 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:109280453:C:G,NC_000001.11:109280453:C:T
                              Gene:
                              PSRC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000001.11:g.109280454C>G, NC_000001.11:g.109280454C>T, NC_000001.10:g.109823076C>G, NC_000001.10:g.109823076C>T, NM_032636.8:c.940G>C, NM_032636.8:c.940G>A, NM_032636.7:c.940G>C, NM_032636.7:c.940G>A, XM_005271283.4:c.940G>C, XM_005271283.4:c.940G>A, XM_005271283.3:c.940G>C, XM_005271283.3:c.940G>A, XM_005271283.2:c.940G>C, XM_005271283.2:c.940G>A, XM_005271283.1:c.940G>C, XM_005271283.1:c.940G>A, NM_001005290.4:c.839G>C, NM_001005290.4:c.839G>A, NM_001005290.3:c.839G>C, NM_001005290.3:c.839G>A, XM_017002560.3:c.1030G>C, XM_017002560.3:c.1030G>A, XM_017002560.2:c.1030G>C, XM_017002560.2:c.1030G>A, XM_017002560.1:c.1030G>C, XM_017002560.1:c.1030G>A, NM_001032291.3:c.940G>C, NM_001032291.3:c.940G>A, NM_001032291.2:c.940G>C, NM_001032291.2:c.940G>A, NM_001350237.2:c.892G>C, NM_001350237.2:c.892G>A, NM_001350237.1:c.892G>C, NM_001350237.1:c.892G>A, XM_017002563.2:c.1030G>C, XM_017002563.2:c.1030G>A, XM_017002563.1:c.1030G>C, XM_017002563.1:c.1030G>A, XM_017002562.2:c.1030G>C, XM_017002562.2:c.1030G>A, XM_017002562.1:c.1030G>C, XM_017002562.1:c.1030G>A, XM_017002566.2:c.1030G>C, XM_017002566.2:c.1030G>A, XM_017002566.1:c.1030G>C, XM_017002566.1:c.1030G>A, XM_017002567.2:c.1030G>C, XM_017002567.2:c.1030G>A, XM_017002567.1:c.1030G>C, XM_017002567.1:c.1030G>A, XM_017002564.2:c.1030G>C, XM_017002564.2:c.1030G>A, XM_017002564.1:c.1030G>C, XM_017002564.1:c.1030G>A, NM_001363309.2:c.1030G>C, NM_001363309.2:c.1030G>A, NM_001363309.1:c.1030G>C, NM_001363309.1:c.1030G>A, XM_017002569.2:c.940G>C, XM_017002569.2:c.940G>A, XM_017002569.1:c.940G>C, XM_017002569.1:c.940G>A, XM_017002570.2:c.940G>C, XM_017002570.2:c.940G>A, XM_017002570.1:c.940G>C, XM_017002570.1:c.940G>A, NM_001350241.2:c.892G>C, NM_001350241.2:c.892G>A, NM_001350241.1:c.892G>C, NM_001350241.1:c.892G>A, NM_001350238.2:c.892G>C, NM_001350238.2:c.892G>A, NM_001350238.1:c.892G>C, NM_001350238.1:c.892G>A, NM_001350239.2:c.892G>C, NM_001350239.2:c.892G>A, NM_001350239.1:c.892G>C, NM_001350239.1:c.892G>A, NM_001350240.2:c.892G>C, NM_001350240.2:c.892G>A, NM_001350240.1:c.892G>C, NM_001350240.1:c.892G>A, NM_001350242.2:c.892G>C, NM_001350242.2:c.892G>A, NM_001350242.1:c.892G>C, NM_001350242.1:c.892G>A, XM_047432251.1:c.1030G>C, XM_047432251.1:c.1030G>A, NM_001032290.1:c.1030G>C, NM_001032290.1:c.1030G>A, XM_047432264.1:c.940G>C, XM_047432264.1:c.940G>A, NM_001394005.1:c.1030G>C, NM_001394005.1:c.1030G>A, XM_047432255.1:c.940G>C, XM_047432255.1:c.940G>A, XM_047432272.1:c.940G>C, XM_047432272.1:c.940G>A, XM_047432274.1:c.892G>C, XM_047432274.1:c.892G>A, NM_001394002.1:c.940G>C, NM_001394002.1:c.940G>A, NM_001394004.1:c.839G>C, NM_001394004.1:c.839G>A, XM_047432275.1:c.892G>C, XM_047432275.1:c.892G>A, XM_047432294.1:c.839G>C, XM_047432294.1:c.839G>A, NM_001394003.1:c.839G>C, NM_001394003.1:c.839G>A, XM_047432277.1:c.839G>C, XM_047432277.1:c.839G>A, XM_047432284.1:c.839G>C, XM_047432284.1:c.839G>A, NP_116025.1:p.Gly314Arg, NP_116025.1:p.Gly314Ser, XP_005271340.1:p.Gly314Arg, XP_005271340.1:p.Gly314Ser, NP_001005290.1:p.Gly280Ala, NP_001005290.1:p.Gly280Glu, XP_016858049.1:p.Gly344Arg, XP_016858049.1:p.Gly344Ser, NP_001027462.1:p.Gly314Arg, NP_001027462.1:p.Gly314Ser, NP_001337166.1:p.Gly298Arg, NP_001337166.1:p.Gly298Ser, XP_016858052.1:p.Gly344Arg, XP_016858052.1:p.Gly344Ser, XP_016858051.1:p.Gly344Arg, XP_016858051.1:p.Gly344Ser, XP_016858055.1:p.Gly344Arg, XP_016858055.1:p.Gly344Ser, XP_016858056.1:p.Gly344Arg, XP_016858056.1:p.Gly344Ser, XP_016858053.1:p.Gly344Arg, XP_016858053.1:p.Gly344Ser, NP_001350238.1:p.Gly344Arg, NP_001350238.1:p.Gly344Ser, XP_016858058.1:p.Gly314Arg, XP_016858058.1:p.Gly314Ser, XP_016858059.1:p.Gly314Arg, XP_016858059.1:p.Gly314Ser, NP_001337170.1:p.Gly298Arg, NP_001337170.1:p.Gly298Ser, NP_001337167.1:p.Gly298Arg, NP_001337167.1:p.Gly298Ser, NP_001337168.1:p.Gly298Arg, NP_001337168.1:p.Gly298Ser, NP_001337169.1:p.Gly298Arg, NP_001337169.1:p.Gly298Ser, NP_001337171.1:p.Gly298Arg, NP_001337171.1:p.Gly298Ser, XP_047288207.1:p.Gly344Arg, XP_047288207.1:p.Gly344Ser, XP_047288220.1:p.Gly314Arg, XP_047288220.1:p.Gly314Ser, NP_001380934.1:p.Gly344Arg, NP_001380934.1:p.Gly344Ser, XP_047288211.1:p.Gly314Arg, XP_047288211.1:p.Gly314Ser, XP_047288228.1:p.Gly314Arg, XP_047288228.1:p.Gly314Ser, XP_047288230.1:p.Gly298Arg, XP_047288230.1:p.Gly298Ser, NP_001380931.1:p.Gly314Arg, NP_001380931.1:p.Gly314Ser, NP_001380933.1:p.Gly280Ala, NP_001380933.1:p.Gly280Glu, XP_047288231.1:p.Gly298Arg, XP_047288231.1:p.Gly298Ser, XP_047288250.1:p.Gly280Ala, XP_047288250.1:p.Gly280Glu, NP_001380932.1:p.Gly280Ala, NP_001380932.1:p.Gly280Glu, XP_047288233.1:p.Gly280Ala, XP_047288233.1:p.Gly280Glu, XP_047288240.1:p.Gly280Ala, XP_047288240.1:p.Gly280Glu

                              15.

                              rs1448057792 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:109281890 (GRCh38)
                                1:109824512 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:109281889:C:T
                                Gene:
                                PSRC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000012/3 (GnomAD_exomes)
                                T=0.000014/2 (GnomAD)
                                T=0.000019/5 (TOPMED)
                                HGVS:
                                NC_000001.11:g.109281890C>T, NC_000001.10:g.109824512C>T, NM_032636.8:c.248G>A, NM_032636.7:c.248G>A, XM_005271283.4:c.248G>A, XM_005271283.3:c.248G>A, XM_005271283.2:c.248G>A, XM_005271283.1:c.248G>A, NM_001005290.4:c.248G>A, NM_001005290.3:c.248G>A, XM_017002560.3:c.248G>A, XM_017002560.2:c.248G>A, XM_017002560.1:c.248G>A, NM_001032291.3:c.248G>A, NM_001032291.2:c.248G>A, NM_001350237.2:c.248G>A, NM_001350237.1:c.248G>A, XM_017002563.2:c.248G>A, XM_017002563.1:c.248G>A, XM_017002562.2:c.248G>A, XM_017002562.1:c.248G>A, XM_017002566.2:c.248G>A, XM_017002566.1:c.248G>A, XM_017002567.2:c.248G>A, XM_017002567.1:c.248G>A, XM_017002564.2:c.248G>A, XM_017002564.1:c.248G>A, NM_001363309.2:c.248G>A, NM_001363309.1:c.248G>A, XM_017002569.2:c.248G>A, XM_017002569.1:c.248G>A, XM_017002570.2:c.248G>A, XM_017002570.1:c.248G>A, NM_001350241.2:c.248G>A, NM_001350241.1:c.248G>A, NM_001350238.2:c.248G>A, NM_001350238.1:c.248G>A, NM_001350239.2:c.248G>A, NM_001350239.1:c.248G>A, NM_001350240.2:c.248G>A, NM_001350240.1:c.248G>A, NM_001350242.2:c.248G>A, NM_001350242.1:c.248G>A, XM_047432251.1:c.248G>A, NM_001032290.1:c.248G>A, XM_047432264.1:c.248G>A, NM_001394005.1:c.248G>A, XM_047432255.1:c.248G>A, XM_047432272.1:c.248G>A, XM_047432274.1:c.248G>A, NM_001394002.1:c.248G>A, NM_001394004.1:c.248G>A, XM_047432275.1:c.248G>A, XM_047432294.1:c.248G>A, NM_001394003.1:c.248G>A, XM_047432277.1:c.248G>A, XM_047432284.1:c.248G>A, NP_116025.1:p.Arg83Gln, XP_005271340.1:p.Arg83Gln, NP_001005290.1:p.Arg83Gln, XP_016858049.1:p.Arg83Gln, NP_001027462.1:p.Arg83Gln, NP_001337166.1:p.Arg83Gln, XP_016858052.1:p.Arg83Gln, XP_016858051.1:p.Arg83Gln, XP_016858055.1:p.Arg83Gln, XP_016858056.1:p.Arg83Gln, XP_016858053.1:p.Arg83Gln, NP_001350238.1:p.Arg83Gln, XP_016858058.1:p.Arg83Gln, XP_016858059.1:p.Arg83Gln, NP_001337170.1:p.Arg83Gln, NP_001337167.1:p.Arg83Gln, NP_001337168.1:p.Arg83Gln, NP_001337169.1:p.Arg83Gln, NP_001337171.1:p.Arg83Gln, XP_047288207.1:p.Arg83Gln, XP_047288220.1:p.Arg83Gln, NP_001380934.1:p.Arg83Gln, XP_047288211.1:p.Arg83Gln, XP_047288228.1:p.Arg83Gln, XP_047288230.1:p.Arg83Gln, NP_001380931.1:p.Arg83Gln, NP_001380933.1:p.Arg83Gln, XP_047288231.1:p.Arg83Gln, XP_047288250.1:p.Arg83Gln, NP_001380932.1:p.Arg83Gln, XP_047288233.1:p.Arg83Gln, XP_047288240.1:p.Arg83Gln

                                16.

                                rs1441708951 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  1:109280916 (GRCh38)
                                  1:109823538 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:109280915:C:A,NC_000001.11:109280915:C:T
                                  Gene:
                                  PSRC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.109280916C>A, NC_000001.11:g.109280916C>T, NC_000001.10:g.109823538C>A, NC_000001.10:g.109823538C>T, NM_032636.8:c.765G>T, NM_032636.8:c.765G>A, NM_032636.7:c.765G>T, NM_032636.7:c.765G>A, XM_005271283.4:c.765G>T, XM_005271283.4:c.765G>A, XM_005271283.3:c.765G>T, XM_005271283.3:c.765G>A, XM_005271283.2:c.765G>T, XM_005271283.2:c.765G>A, XM_005271283.1:c.765G>T, XM_005271283.1:c.765G>A, NM_001005290.4:c.664G>T, NM_001005290.4:c.664G>A, NM_001005290.3:c.664G>T, NM_001005290.3:c.664G>A, XM_017002560.3:c.855G>T, XM_017002560.3:c.855G>A, XM_017002560.2:c.855G>T, XM_017002560.2:c.855G>A, XM_017002560.1:c.855G>T, XM_017002560.1:c.855G>A, NM_001032291.3:c.765G>T, NM_001032291.3:c.765G>A, NM_001032291.2:c.765G>T, NM_001032291.2:c.765G>A, NM_001350237.2:c.717G>T, NM_001350237.2:c.717G>A, NM_001350237.1:c.717G>T, NM_001350237.1:c.717G>A, XM_017002563.2:c.855G>T, XM_017002563.2:c.855G>A, XM_017002563.1:c.855G>T, XM_017002563.1:c.855G>A, XM_017002562.2:c.855G>T, XM_017002562.2:c.855G>A, XM_017002562.1:c.855G>T, XM_017002562.1:c.855G>A, XM_017002566.2:c.855G>T, XM_017002566.2:c.855G>A, XM_017002566.1:c.855G>T, XM_017002566.1:c.855G>A, XM_017002567.2:c.855G>T, XM_017002567.2:c.855G>A, XM_017002567.1:c.855G>T, XM_017002567.1:c.855G>A, XM_017002564.2:c.855G>T, XM_017002564.2:c.855G>A, XM_017002564.1:c.855G>T, XM_017002564.1:c.855G>A, NM_001363309.2:c.855G>T, NM_001363309.2:c.855G>A, NM_001363309.1:c.855G>T, NM_001363309.1:c.855G>A, XM_017002569.2:c.765G>T, XM_017002569.2:c.765G>A, XM_017002569.1:c.765G>T, XM_017002569.1:c.765G>A, XM_017002570.2:c.765G>T, XM_017002570.2:c.765G>A, XM_017002570.1:c.765G>T, XM_017002570.1:c.765G>A, NM_001350241.2:c.717G>T, NM_001350241.2:c.717G>A, NM_001350241.1:c.717G>T, NM_001350241.1:c.717G>A, NM_001350238.2:c.717G>T, NM_001350238.2:c.717G>A, NM_001350238.1:c.717G>T, NM_001350238.1:c.717G>A, NM_001350239.2:c.717G>T, NM_001350239.2:c.717G>A, NM_001350239.1:c.717G>T, NM_001350239.1:c.717G>A, NM_001350240.2:c.717G>T, NM_001350240.2:c.717G>A, NM_001350240.1:c.717G>T, NM_001350240.1:c.717G>A, NM_001350242.2:c.717G>T, NM_001350242.2:c.717G>A, NM_001350242.1:c.717G>T, NM_001350242.1:c.717G>A, XM_047432251.1:c.855G>T, XM_047432251.1:c.855G>A, NM_001032290.1:c.855G>T, NM_001032290.1:c.855G>A, XM_047432264.1:c.765G>T, XM_047432264.1:c.765G>A, NM_001394005.1:c.855G>T, NM_001394005.1:c.855G>A, XM_047432255.1:c.765G>T, XM_047432255.1:c.765G>A, XM_047432272.1:c.765G>T, XM_047432272.1:c.765G>A, XM_047432274.1:c.717G>T, XM_047432274.1:c.717G>A, NM_001394002.1:c.765G>T, NM_001394002.1:c.765G>A, NM_001394004.1:c.664G>T, NM_001394004.1:c.664G>A, XM_047432275.1:c.717G>T, XM_047432275.1:c.717G>A, XM_047432294.1:c.664G>T, XM_047432294.1:c.664G>A, NM_001394003.1:c.664G>T, NM_001394003.1:c.664G>A, XM_047432277.1:c.664G>T, XM_047432277.1:c.664G>A, XM_047432284.1:c.664G>T, XM_047432284.1:c.664G>A, NP_116025.1:p.Arg255Ser, XP_005271340.1:p.Arg255Ser, NP_001005290.1:p.Ala222Ser, NP_001005290.1:p.Ala222Thr, XP_016858049.1:p.Arg285Ser, NP_001027462.1:p.Arg255Ser, NP_001337166.1:p.Arg239Ser, XP_016858052.1:p.Arg285Ser, XP_016858051.1:p.Arg285Ser, XP_016858055.1:p.Arg285Ser, XP_016858056.1:p.Arg285Ser, XP_016858053.1:p.Arg285Ser, NP_001350238.1:p.Arg285Ser, XP_016858058.1:p.Arg255Ser, XP_016858059.1:p.Arg255Ser, NP_001337170.1:p.Arg239Ser, NP_001337167.1:p.Arg239Ser, NP_001337168.1:p.Arg239Ser, NP_001337169.1:p.Arg239Ser, NP_001337171.1:p.Arg239Ser, XP_047288207.1:p.Arg285Ser, XP_047288220.1:p.Arg255Ser, NP_001380934.1:p.Arg285Ser, XP_047288211.1:p.Arg255Ser, XP_047288228.1:p.Arg255Ser, XP_047288230.1:p.Arg239Ser, NP_001380931.1:p.Arg255Ser, NP_001380933.1:p.Ala222Ser, NP_001380933.1:p.Ala222Thr, XP_047288231.1:p.Arg239Ser, XP_047288250.1:p.Ala222Ser, XP_047288250.1:p.Ala222Thr, NP_001380932.1:p.Ala222Ser, NP_001380932.1:p.Ala222Thr, XP_047288233.1:p.Ala222Ser, XP_047288233.1:p.Ala222Thr, XP_047288240.1:p.Ala222Ser, XP_047288240.1:p.Ala222Thr

                                  17.

                                  rs1440890235 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:109281995 (GRCh38)
                                    1:109824617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:109281994:T:G
                                    Gene:
                                    PSRC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000001.11:g.109281995T>G, NC_000001.10:g.109824617T>G, NM_032636.8:c.143A>C, NM_032636.7:c.143A>C, XM_005271283.4:c.143A>C, XM_005271283.3:c.143A>C, XM_005271283.2:c.143A>C, XM_005271283.1:c.143A>C, NM_001005290.4:c.143A>C, NM_001005290.3:c.143A>C, XM_017002560.3:c.143A>C, XM_017002560.2:c.143A>C, XM_017002560.1:c.143A>C, NM_001032291.3:c.143A>C, NM_001032291.2:c.143A>C, NM_001350237.2:c.143A>C, NM_001350237.1:c.143A>C, XM_017002563.2:c.143A>C, XM_017002563.1:c.143A>C, XM_017002562.2:c.143A>C, XM_017002562.1:c.143A>C, XM_017002566.2:c.143A>C, XM_017002566.1:c.143A>C, XM_017002567.2:c.143A>C, XM_017002567.1:c.143A>C, XM_017002564.2:c.143A>C, XM_017002564.1:c.143A>C, NM_001363309.2:c.143A>C, NM_001363309.1:c.143A>C, XM_017002569.2:c.143A>C, XM_017002569.1:c.143A>C, XM_017002570.2:c.143A>C, XM_017002570.1:c.143A>C, NM_001350241.2:c.143A>C, NM_001350241.1:c.143A>C, NM_001350238.2:c.143A>C, NM_001350238.1:c.143A>C, NM_001350239.2:c.143A>C, NM_001350239.1:c.143A>C, NM_001350240.2:c.143A>C, NM_001350240.1:c.143A>C, NM_001350242.2:c.143A>C, NM_001350242.1:c.143A>C, XM_047432251.1:c.143A>C, NM_001032290.1:c.143A>C, XM_047432264.1:c.143A>C, NM_001394005.1:c.143A>C, XM_047432255.1:c.143A>C, XM_047432272.1:c.143A>C, XM_047432274.1:c.143A>C, NM_001394002.1:c.143A>C, NM_001394004.1:c.143A>C, XM_047432275.1:c.143A>C, XM_047432294.1:c.143A>C, NM_001394003.1:c.143A>C, XM_047432277.1:c.143A>C, XM_047432284.1:c.143A>C, NP_116025.1:p.His48Pro, XP_005271340.1:p.His48Pro, NP_001005290.1:p.His48Pro, XP_016858049.1:p.His48Pro, NP_001027462.1:p.His48Pro, NP_001337166.1:p.His48Pro, XP_016858052.1:p.His48Pro, XP_016858051.1:p.His48Pro, XP_016858055.1:p.His48Pro, XP_016858056.1:p.His48Pro, XP_016858053.1:p.His48Pro, NP_001350238.1:p.His48Pro, XP_016858058.1:p.His48Pro, XP_016858059.1:p.His48Pro, NP_001337170.1:p.His48Pro, NP_001337167.1:p.His48Pro, NP_001337168.1:p.His48Pro, NP_001337169.1:p.His48Pro, NP_001337171.1:p.His48Pro, XP_047288207.1:p.His48Pro, XP_047288220.1:p.His48Pro, NP_001380934.1:p.His48Pro, XP_047288211.1:p.His48Pro, XP_047288228.1:p.His48Pro, XP_047288230.1:p.His48Pro, NP_001380931.1:p.His48Pro, NP_001380933.1:p.His48Pro, XP_047288231.1:p.His48Pro, XP_047288250.1:p.His48Pro, NP_001380932.1:p.His48Pro, XP_047288233.1:p.His48Pro, XP_047288240.1:p.His48Pro

                                    18.

                                    rs1437876819 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:109280396 (GRCh38)
                                      1:109823018 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:109280395:C:T
                                      Gene:
                                      PSRC1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.109280396C>T, NC_000001.10:g.109823018C>T, NM_032636.8:c.998G>A, NM_032636.7:c.998G>A, XM_005271283.4:c.998G>A, XM_005271283.3:c.998G>A, XM_005271283.2:c.998G>A, XM_005271283.1:c.998G>A, NM_001005290.4:c.897G>A, NM_001005290.3:c.897G>A, XM_017002560.3:c.1088G>A, XM_017002560.2:c.1088G>A, XM_017002560.1:c.1088G>A, NM_001032291.3:c.998G>A, NM_001032291.2:c.998G>A, NM_001350237.2:c.950G>A, NM_001350237.1:c.950G>A, XM_017002563.2:c.1088G>A, XM_017002563.1:c.1088G>A, XM_017002562.2:c.1088G>A, XM_017002562.1:c.1088G>A, XM_017002566.2:c.1088G>A, XM_017002566.1:c.1088G>A, XM_017002567.2:c.1088G>A, XM_017002567.1:c.1088G>A, XM_017002564.2:c.1088G>A, XM_017002564.1:c.1088G>A, NM_001363309.2:c.1088G>A, NM_001363309.1:c.1088G>A, XM_017002569.2:c.998G>A, XM_017002569.1:c.998G>A, XM_017002570.2:c.998G>A, XM_017002570.1:c.998G>A, NM_001350241.2:c.950G>A, NM_001350241.1:c.950G>A, NM_001350238.2:c.950G>A, NM_001350238.1:c.950G>A, NM_001350239.2:c.950G>A, NM_001350239.1:c.950G>A, NM_001350240.2:c.950G>A, NM_001350240.1:c.950G>A, NM_001350242.2:c.950G>A, NM_001350242.1:c.950G>A, XM_047432251.1:c.1088G>A, NM_001032290.1:c.1088G>A, XM_047432264.1:c.998G>A, NM_001394005.1:c.1088G>A, XM_047432255.1:c.998G>A, XM_047432272.1:c.998G>A, XM_047432274.1:c.950G>A, NM_001394002.1:c.998G>A, NM_001394004.1:c.897G>A, XM_047432275.1:c.950G>A, XM_047432294.1:c.897G>A, NM_001394003.1:c.897G>A, XM_047432277.1:c.897G>A, XM_047432284.1:c.897G>A, NP_116025.1:p.Arg333Lys, XP_005271340.1:p.Arg333Lys, XP_016858049.1:p.Arg363Lys, NP_001027462.1:p.Arg333Lys, NP_001337166.1:p.Arg317Lys, XP_016858052.1:p.Arg363Lys, XP_016858051.1:p.Arg363Lys, XP_016858055.1:p.Arg363Lys, XP_016858056.1:p.Arg363Lys, XP_016858053.1:p.Arg363Lys, NP_001350238.1:p.Arg363Lys, XP_016858058.1:p.Arg333Lys, XP_016858059.1:p.Arg333Lys, NP_001337170.1:p.Arg317Lys, NP_001337167.1:p.Arg317Lys, NP_001337168.1:p.Arg317Lys, NP_001337169.1:p.Arg317Lys, NP_001337171.1:p.Arg317Lys, XP_047288207.1:p.Arg363Lys, XP_047288220.1:p.Arg333Lys, NP_001380934.1:p.Arg363Lys, XP_047288211.1:p.Arg333Lys, XP_047288228.1:p.Arg333Lys, XP_047288230.1:p.Arg317Lys, NP_001380931.1:p.Arg333Lys, XP_047288231.1:p.Arg317Lys

                                      19.

                                      rs1436765922 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        1:109280943 (GRCh38)
                                        1:109823565 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:109280942:T:C,NC_000001.11:109280942:T:G
                                        Gene:
                                        PSRC1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
                                        HGVS:
                                        NC_000001.11:g.109280943T>C, NC_000001.11:g.109280943T>G, NC_000001.10:g.109823565T>C, NC_000001.10:g.109823565T>G, NM_032636.8:c.738A>G, NM_032636.8:c.738A>C, NM_032636.7:c.738A>G, NM_032636.7:c.738A>C, XM_005271283.4:c.738A>G, XM_005271283.4:c.738A>C, XM_005271283.3:c.738A>G, XM_005271283.3:c.738A>C, XM_005271283.2:c.738A>G, XM_005271283.2:c.738A>C, XM_005271283.1:c.738A>G, XM_005271283.1:c.738A>C, XM_017002560.3:c.828A>G, XM_017002560.3:c.828A>C, XM_017002560.2:c.828A>G, XM_017002560.2:c.828A>C, XM_017002560.1:c.828A>G, XM_017002560.1:c.828A>C, NM_001032291.3:c.738A>G, NM_001032291.3:c.738A>C, NM_001032291.2:c.738A>G, NM_001032291.2:c.738A>C, NM_001350237.2:c.690A>G, NM_001350237.2:c.690A>C, NM_001350237.1:c.690A>G, NM_001350237.1:c.690A>C, XM_017002563.2:c.828A>G, XM_017002563.2:c.828A>C, XM_017002563.1:c.828A>G, XM_017002563.1:c.828A>C, XM_017002562.2:c.828A>G, XM_017002562.2:c.828A>C, XM_017002562.1:c.828A>G, XM_017002562.1:c.828A>C, XM_017002566.2:c.828A>G, XM_017002566.2:c.828A>C, XM_017002566.1:c.828A>G, XM_017002566.1:c.828A>C, XM_017002567.2:c.828A>G, XM_017002567.2:c.828A>C, XM_017002567.1:c.828A>G, XM_017002567.1:c.828A>C, XM_017002564.2:c.828A>G, XM_017002564.2:c.828A>C, XM_017002564.1:c.828A>G, XM_017002564.1:c.828A>C, NM_001363309.2:c.828A>G, NM_001363309.2:c.828A>C, NM_001363309.1:c.828A>G, NM_001363309.1:c.828A>C, XM_017002569.2:c.738A>G, XM_017002569.2:c.738A>C, XM_017002569.1:c.738A>G, XM_017002569.1:c.738A>C, XM_017002570.2:c.738A>G, XM_017002570.2:c.738A>C, XM_017002570.1:c.738A>G, XM_017002570.1:c.738A>C, NM_001350241.2:c.690A>G, NM_001350241.2:c.690A>C, NM_001350241.1:c.690A>G, NM_001350241.1:c.690A>C, NM_001350238.2:c.690A>G, NM_001350238.2:c.690A>C, NM_001350238.1:c.690A>G, NM_001350238.1:c.690A>C, NM_001350239.2:c.690A>G, NM_001350239.2:c.690A>C, NM_001350239.1:c.690A>G, NM_001350239.1:c.690A>C, NM_001350240.2:c.690A>G, NM_001350240.2:c.690A>C, NM_001350240.1:c.690A>G, NM_001350240.1:c.690A>C, NM_001350242.2:c.690A>G, NM_001350242.2:c.690A>C, NM_001350242.1:c.690A>G, NM_001350242.1:c.690A>C, XM_047432251.1:c.828A>G, XM_047432251.1:c.828A>C, NM_001032290.1:c.828A>G, NM_001032290.1:c.828A>C, XM_047432264.1:c.738A>G, XM_047432264.1:c.738A>C, NM_001394005.1:c.828A>G, NM_001394005.1:c.828A>C, XM_047432255.1:c.738A>G, XM_047432255.1:c.738A>C, XM_047432272.1:c.738A>G, XM_047432272.1:c.738A>C, XM_047432274.1:c.690A>G, XM_047432274.1:c.690A>C, NM_001394002.1:c.738A>G, NM_001394002.1:c.738A>C, XM_047432275.1:c.690A>G, XM_047432275.1:c.690A>C, NP_116025.1:p.Gln246His, XP_005271340.1:p.Gln246His, XP_016858049.1:p.Gln276His, NP_001027462.1:p.Gln246His, NP_001337166.1:p.Gln230His, XP_016858052.1:p.Gln276His, XP_016858051.1:p.Gln276His, XP_016858055.1:p.Gln276His, XP_016858056.1:p.Gln276His, XP_016858053.1:p.Gln276His, NP_001350238.1:p.Gln276His, XP_016858058.1:p.Gln246His, XP_016858059.1:p.Gln246His, NP_001337170.1:p.Gln230His, NP_001337167.1:p.Gln230His, NP_001337168.1:p.Gln230His, NP_001337169.1:p.Gln230His, NP_001337171.1:p.Gln230His, XP_047288207.1:p.Gln276His, XP_047288220.1:p.Gln246His, NP_001380934.1:p.Gln276His, XP_047288211.1:p.Gln246His, XP_047288228.1:p.Gln246His, XP_047288230.1:p.Gln230His, NP_001380931.1:p.Gln246His, XP_047288231.1:p.Gln230His

                                        20.

                                        rs1432878812 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:109281874 (GRCh38)
                                          1:109824496 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:109281873:C:T
                                          Gene:
                                          PSRC1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.109281874C>T, NC_000001.10:g.109824496C>T, NM_032636.8:c.264G>A, NM_032636.7:c.264G>A, XM_005271283.4:c.264G>A, XM_005271283.3:c.264G>A, XM_005271283.2:c.264G>A, XM_005271283.1:c.264G>A, NM_001005290.4:c.264G>A, NM_001005290.3:c.264G>A, XM_017002560.3:c.264G>A, XM_017002560.2:c.264G>A, XM_017002560.1:c.264G>A, NM_001032291.3:c.264G>A, NM_001032291.2:c.264G>A, NM_001350237.2:c.264G>A, NM_001350237.1:c.264G>A, XM_017002563.2:c.264G>A, XM_017002563.1:c.264G>A, XM_017002562.2:c.264G>A, XM_017002562.1:c.264G>A, XM_017002566.2:c.264G>A, XM_017002566.1:c.264G>A, XM_017002567.2:c.264G>A, XM_017002567.1:c.264G>A, XM_017002564.2:c.264G>A, XM_017002564.1:c.264G>A, NM_001363309.2:c.264G>A, NM_001363309.1:c.264G>A, XM_017002569.2:c.264G>A, XM_017002569.1:c.264G>A, XM_017002570.2:c.264G>A, XM_017002570.1:c.264G>A, NM_001350241.2:c.264G>A, NM_001350241.1:c.264G>A, NM_001350238.2:c.264G>A, NM_001350238.1:c.264G>A, NM_001350239.2:c.264G>A, NM_001350239.1:c.264G>A, NM_001350240.2:c.264G>A, NM_001350240.1:c.264G>A, NM_001350242.2:c.264G>A, NM_001350242.1:c.264G>A, XM_047432251.1:c.264G>A, NM_001032290.1:c.264G>A, XM_047432264.1:c.264G>A, NM_001394005.1:c.264G>A, XM_047432255.1:c.264G>A, XM_047432272.1:c.264G>A, XM_047432274.1:c.264G>A, NM_001394002.1:c.264G>A, NM_001394004.1:c.264G>A, XM_047432275.1:c.264G>A, XM_047432294.1:c.264G>A, NM_001394003.1:c.264G>A, XM_047432277.1:c.264G>A, XM_047432284.1:c.264G>A

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