U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 432

1.

rs1490178044 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:143816739 (GRCh38)
    8:144898909 (GRCh37)
    Canonical SPDI:
    NC_000008.11:143816738:A:G
    Gene:
    PUF60 (Varview), SCRIB (Varview)
    Functional Consequence:
    2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000047/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.143816739A>G, NW_003315923.1:g.155384A>G, NG_030583.1:g.3641T>C, NG_033879.1:g.17648T>C, NM_014281.5:c.1410T>C, NM_014281.4:c.1410T>C, NM_001136033.3:c.1332T>C, NM_001136033.2:c.1332T>C, NM_078480.3:c.1461T>C, NM_078480.2:c.1461T>C, NM_001362896.2:c.1572T>C, NM_001362896.1:c.1572T>C, NM_001362895.2:c.1572T>C, NM_001362895.1:c.1572T>C, NM_001362897.2:c.1521T>C, NM_001362897.1:c.1521T>C, NM_001271098.2:c.1458T>C, NM_001271098.1:c.1458T>C, NM_001271100.2:c.1281T>C, NM_001271100.1:c.1281T>C, NM_001271096.2:c.1407T>C, NM_001271096.1:c.1407T>C, NM_001271099.2:c.1374T>C, NM_001271099.1:c.1374T>C, NM_001271097.2:c.1323T>C, NM_001271097.1:c.1323T>C, NT_187571.1:g.293786A>G, NC_000008.10:g.144898909A>G, XM_017013234.2:c.1572T>C, XM_017013234.1:c.1572T>C, XM_017013236.2:c.1521T>C, XM_017013236.1:c.1521T>C, XM_047421579.1:c.1569T>C, XM_047421583.1:c.1518T>C, XM_047421578.1:c.1572T>C, XM_047421581.1:c.1521T>C, XM_047421580.1:c.1569T>C, XM_047421582.1:c.1521T>C

    2.

    rs1489383612 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTC>- [Show Flanks]
      Chromosome:
      8:143817024 (GRCh38)
      8:144899194 (GRCh37)
      Canonical SPDI:
      NC_000008.11:143817020:CTCCTC:CTC
      Gene:
      PUF60 (Varview), SCRIB (Varview)
      Functional Consequence:
      2KB_upstream_variant,inframe_deletion,coding_sequence_variant,upstream_transcript_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTCCTC=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000008.11:g.143817021CTC[1], NW_003315923.1:g.155666CTC[1], NG_030583.1:g.3354GAG[1], NG_033879.1:g.17361GAG[1], NM_014281.5:c.1213GAG[1], NM_014281.4:c.1213GAG[1], NM_001136033.3:c.1135GAG[1], NM_001136033.2:c.1135GAG[1], NM_078480.3:c.1264GAG[1], NM_078480.2:c.1264GAG[1], NM_001362896.2:c.1375GAG[1], NM_001362896.1:c.1375GAG[1], NM_001362895.2:c.1375GAG[1], NM_001362895.1:c.1375GAG[1], NM_001362897.2:c.1324GAG[1], NM_001362897.1:c.1324GAG[1], NM_001271098.2:c.1261GAG[1], NM_001271098.1:c.1261GAG[1], NM_001271100.2:c.1084GAG[1], NM_001271100.1:c.1084GAG[1], NM_001271096.2:c.1210GAG[1], NM_001271096.1:c.1210GAG[1], NM_001271099.2:c.1177GAG[1], NM_001271099.1:c.1177GAG[1], NM_001271097.2:c.1126GAG[1], NM_001271097.1:c.1126GAG[1], NT_187571.1:g.294068CTC[1], NC_000008.10:g.144899191CTC[1], XM_017013234.2:c.1375GAG[1], XM_017013234.1:c.1375GAG[1], XM_017013236.2:c.1324GAG[1], XM_017013236.1:c.1324GAG[1], XM_047421579.1:c.1372GAG[1], XM_047421583.1:c.1321GAG[1], XM_047421578.1:c.1375GAG[1], XM_047421581.1:c.1324GAG[1], XM_047421580.1:c.1372GAG[1], XM_047421582.1:c.1324GAG[1], NP_055096.2:p.Glu406del, NP_001129505.1:p.Glu380del, NP_510965.1:p.Glu423del, NP_001349825.1:p.Glu460del, NP_001349824.1:p.Glu460del, NP_001349826.1:p.Glu443del, NP_001258027.1:p.Glu422del, NP_001258029.1:p.Glu363del, NP_001258025.1:p.Glu405del, NP_001258028.1:p.Glu394del, NP_001258026.1:p.Glu377del, XP_016868723.1:p.Glu460del, XP_016868725.1:p.Glu443del, XP_047277535.1:p.Glu459del, XP_047277539.1:p.Glu442del, XP_047277534.1:p.Glu460del, XP_047277537.1:p.Glu443del, XP_047277536.1:p.Glu459del, XP_047277538.1:p.Glu443del

      3.

      rs1482328275 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        8:143817111 (GRCh38)
        8:144899281 (GRCh37)
        Canonical SPDI:
        NC_000008.11:143817110:G:A,NC_000008.11:143817110:G:C
        Gene:
        PUF60 (Varview), SCRIB (Varview)
        Functional Consequence:
        synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        C=0.000035/1 (TOMMO)
        HGVS:
        NC_000008.11:g.143817111G>A, NC_000008.11:g.143817111G>C, NW_003315923.1:g.155756G>A, NW_003315923.1:g.155756G>C, NG_030583.1:g.3269C>T, NG_030583.1:g.3269C>G, NG_033879.1:g.17276C>T, NG_033879.1:g.17276C>G, NM_014281.5:c.1128C>T, NM_014281.5:c.1128C>G, NM_014281.4:c.1128C>T, NM_014281.4:c.1128C>G, NM_001136033.3:c.1050C>T, NM_001136033.3:c.1050C>G, NM_001136033.2:c.1050C>T, NM_001136033.2:c.1050C>G, NM_078480.3:c.1179C>T, NM_078480.3:c.1179C>G, NM_078480.2:c.1179C>T, NM_078480.2:c.1179C>G, NM_001362896.2:c.1290C>T, NM_001362896.2:c.1290C>G, NM_001362896.1:c.1290C>T, NM_001362896.1:c.1290C>G, NM_001362895.2:c.1290C>T, NM_001362895.2:c.1290C>G, NM_001362895.1:c.1290C>T, NM_001362895.1:c.1290C>G, NM_001362897.2:c.1239C>T, NM_001362897.2:c.1239C>G, NM_001362897.1:c.1239C>T, NM_001362897.1:c.1239C>G, NM_001271098.2:c.1176C>T, NM_001271098.2:c.1176C>G, NM_001271098.1:c.1176C>T, NM_001271098.1:c.1176C>G, NM_001271100.2:c.999C>T, NM_001271100.2:c.999C>G, NM_001271100.1:c.999C>T, NM_001271100.1:c.999C>G, NM_001271096.2:c.1125C>T, NM_001271096.2:c.1125C>G, NM_001271096.1:c.1125C>T, NM_001271096.1:c.1125C>G, NM_001271099.2:c.1092C>T, NM_001271099.2:c.1092C>G, NM_001271099.1:c.1092C>T, NM_001271099.1:c.1092C>G, NM_001271097.2:c.1041C>T, NM_001271097.2:c.1041C>G, NM_001271097.1:c.1041C>T, NM_001271097.1:c.1041C>G, NT_187571.1:g.294158G>A, NT_187571.1:g.294158G>C, NC_000008.10:g.144899281G>A, NC_000008.10:g.144899281G>C, XM_017013234.2:c.1290C>T, XM_017013234.2:c.1290C>G, XM_017013234.1:c.1290C>T, XM_017013234.1:c.1290C>G, XM_017013236.2:c.1239C>T, XM_017013236.2:c.1239C>G, XM_017013236.1:c.1239C>T, XM_017013236.1:c.1239C>G, XM_047421579.1:c.1287C>T, XM_047421579.1:c.1287C>G, XM_047421583.1:c.1236C>T, XM_047421583.1:c.1236C>G, XM_047421582.1:c.1239C>T, XM_047421582.1:c.1239C>G, XM_047421581.1:c.1239C>T, XM_047421581.1:c.1239C>G, XM_047421580.1:c.1287C>T, XM_047421580.1:c.1287C>G, XM_047421578.1:c.1290C>T, XM_047421578.1:c.1290C>G

        4.

        rs1480982147 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:143816979 (GRCh38)
          8:144899149 (GRCh37)
          Canonical SPDI:
          NC_000008.11:143816978:C:T
          Gene:
          PUF60 (Varview), SCRIB (Varview)
          Functional Consequence:
          synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000019/5 (TOPMED)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          NC_000008.11:g.143816979C>T, NW_003315923.1:g.155624C>T, NG_030583.1:g.3401G>A, NG_033879.1:g.17408G>A, NM_014281.5:c.1260G>A, NM_014281.4:c.1260G>A, NM_001136033.3:c.1182G>A, NM_001136033.2:c.1182G>A, NM_078480.3:c.1311G>A, NM_078480.2:c.1311G>A, NM_001362896.2:c.1422G>A, NM_001362896.1:c.1422G>A, NM_001362895.2:c.1422G>A, NM_001362895.1:c.1422G>A, NM_001362897.2:c.1371G>A, NM_001362897.1:c.1371G>A, NM_001271098.2:c.1308G>A, NM_001271098.1:c.1308G>A, NM_001271100.2:c.1131G>A, NM_001271100.1:c.1131G>A, NM_001271096.2:c.1257G>A, NM_001271096.1:c.1257G>A, NM_001271099.2:c.1224G>A, NM_001271099.1:c.1224G>A, NM_001271097.2:c.1173G>A, NM_001271097.1:c.1173G>A, NT_187571.1:g.294026C>T, NC_000008.10:g.144899149C>T, XM_017013234.2:c.1422G>A, XM_017013234.1:c.1422G>A, XM_017013236.2:c.1371G>A, XM_017013236.1:c.1371G>A, XM_047421579.1:c.1419G>A, XM_047421583.1:c.1368G>A, XM_047421582.1:c.1371G>A, XM_047421581.1:c.1371G>A, XM_047421580.1:c.1419G>A, XM_047421578.1:c.1422G>A

          5.

          rs1479344201 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:143817425 (GRCh38)
            8:144899595 (GRCh37)
            Canonical SPDI:
            NC_000008.11:143817424:T:C
            Gene:
            PUF60 (Varview), SCRIB (Varview)
            Functional Consequence:
            synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000008.11:g.143817425T>C, NW_003315923.1:g.156070T>C, NG_030583.1:g.2955A>G, NG_033879.1:g.16962A>G, NM_014281.5:c.999A>G, NM_014281.4:c.999A>G, NM_001136033.3:c.921A>G, NM_001136033.2:c.921A>G, NM_078480.3:c.1050A>G, NM_078480.2:c.1050A>G, NM_001362896.2:c.1161A>G, NM_001362896.1:c.1161A>G, NM_001362895.2:c.1161A>G, NM_001362895.1:c.1161A>G, NM_001362897.2:c.1110A>G, NM_001362897.1:c.1110A>G, NM_001271098.2:c.1047A>G, NM_001271098.1:c.1047A>G, NM_001271100.2:c.870A>G, NM_001271100.1:c.870A>G, NM_001271096.2:c.996A>G, NM_001271096.1:c.996A>G, NM_001271099.2:c.963A>G, NM_001271099.1:c.963A>G, NM_001271097.2:c.912A>G, NM_001271097.1:c.912A>G, NT_187571.1:g.294472T>C, NC_000008.10:g.144899595T>C, XM_017013234.2:c.1161A>G, XM_017013234.1:c.1161A>G, XM_017013236.2:c.1110A>G, XM_017013236.1:c.1110A>G, XM_047421579.1:c.1158A>G, XM_047421583.1:c.1107A>G, XM_047421582.1:c.1110A>G, XM_047421581.1:c.1110A>G, XM_047421580.1:c.1158A>G, XM_047421578.1:c.1161A>G

            6.

            rs1479023389 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              8:143817070 (GRCh38)
              8:144899240 (GRCh37)
              Canonical SPDI:
              NC_000008.11:143817069:G:A,NC_000008.11:143817069:G:C
              Gene:
              PUF60 (Varview), SCRIB (Varview)
              Functional Consequence:
              missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000008.11:g.143817070G>A, NC_000008.11:g.143817070G>C, NW_003315923.1:g.155715G>A, NW_003315923.1:g.155715G>C, NG_030583.1:g.3310C>T, NG_030583.1:g.3310C>G, NG_033879.1:g.17317C>T, NG_033879.1:g.17317C>G, NM_014281.5:c.1169C>T, NM_014281.5:c.1169C>G, NM_014281.4:c.1169C>T, NM_014281.4:c.1169C>G, NM_001136033.3:c.1091C>T, NM_001136033.3:c.1091C>G, NM_001136033.2:c.1091C>T, NM_001136033.2:c.1091C>G, NM_078480.3:c.1220C>T, NM_078480.3:c.1220C>G, NM_078480.2:c.1220C>T, NM_078480.2:c.1220C>G, NM_001362896.2:c.1331C>T, NM_001362896.2:c.1331C>G, NM_001362896.1:c.1331C>T, NM_001362896.1:c.1331C>G, NM_001362895.2:c.1331C>T, NM_001362895.2:c.1331C>G, NM_001362895.1:c.1331C>T, NM_001362895.1:c.1331C>G, NM_001362897.2:c.1280C>T, NM_001362897.2:c.1280C>G, NM_001362897.1:c.1280C>T, NM_001362897.1:c.1280C>G, NM_001271098.2:c.1217C>T, NM_001271098.2:c.1217C>G, NM_001271098.1:c.1217C>T, NM_001271098.1:c.1217C>G, NM_001271100.2:c.1040C>T, NM_001271100.2:c.1040C>G, NM_001271100.1:c.1040C>T, NM_001271100.1:c.1040C>G, NM_001271096.2:c.1166C>T, NM_001271096.2:c.1166C>G, NM_001271096.1:c.1166C>T, NM_001271096.1:c.1166C>G, NM_001271099.2:c.1133C>T, NM_001271099.2:c.1133C>G, NM_001271099.1:c.1133C>T, NM_001271099.1:c.1133C>G, NM_001271097.2:c.1082C>T, NM_001271097.2:c.1082C>G, NM_001271097.1:c.1082C>T, NM_001271097.1:c.1082C>G, NT_187571.1:g.294117G>A, NT_187571.1:g.294117G>C, NC_000008.10:g.144899240G>A, NC_000008.10:g.144899240G>C, XM_017013234.2:c.1331C>T, XM_017013234.2:c.1331C>G, XM_017013234.1:c.1331C>T, XM_017013234.1:c.1331C>G, XM_017013236.2:c.1280C>T, XM_017013236.2:c.1280C>G, XM_017013236.1:c.1280C>T, XM_017013236.1:c.1280C>G, XM_047421579.1:c.1328C>T, XM_047421579.1:c.1328C>G, XM_047421583.1:c.1277C>T, XM_047421583.1:c.1277C>G, XM_047421578.1:c.1331C>T, XM_047421578.1:c.1331C>G, XM_047421581.1:c.1280C>T, XM_047421581.1:c.1280C>G, XM_047421580.1:c.1328C>T, XM_047421580.1:c.1328C>G, XM_047421582.1:c.1280C>T, XM_047421582.1:c.1280C>G, NP_055096.2:p.Pro390Leu, NP_055096.2:p.Pro390Arg, NP_001129505.1:p.Pro364Leu, NP_001129505.1:p.Pro364Arg, NP_510965.1:p.Pro407Leu, NP_510965.1:p.Pro407Arg, NP_001349825.1:p.Pro444Leu, NP_001349825.1:p.Pro444Arg, NP_001349824.1:p.Pro444Leu, NP_001349824.1:p.Pro444Arg, NP_001349826.1:p.Pro427Leu, NP_001349826.1:p.Pro427Arg, NP_001258027.1:p.Pro406Leu, NP_001258027.1:p.Pro406Arg, NP_001258029.1:p.Pro347Leu, NP_001258029.1:p.Pro347Arg, NP_001258025.1:p.Pro389Leu, NP_001258025.1:p.Pro389Arg, NP_001258028.1:p.Pro378Leu, NP_001258028.1:p.Pro378Arg, NP_001258026.1:p.Pro361Leu, NP_001258026.1:p.Pro361Arg, XP_016868723.1:p.Pro444Leu, XP_016868723.1:p.Pro444Arg, XP_016868725.1:p.Pro427Leu, XP_016868725.1:p.Pro427Arg, XP_047277535.1:p.Pro443Leu, XP_047277535.1:p.Pro443Arg, XP_047277539.1:p.Pro426Leu, XP_047277539.1:p.Pro426Arg, XP_047277534.1:p.Pro444Leu, XP_047277534.1:p.Pro444Arg, XP_047277537.1:p.Pro427Leu, XP_047277537.1:p.Pro427Arg, XP_047277536.1:p.Pro443Leu, XP_047277536.1:p.Pro443Arg, XP_047277538.1:p.Pro427Leu, XP_047277538.1:p.Pro427Arg

              7.

              rs1478405795 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:143818250 (GRCh38)
                8:144900420 (GRCh37)
                Canonical SPDI:
                NC_000008.11:143818249:A:G
                Gene:
                PUF60 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.143818250A>G, NW_003315923.1:g.156895A>G, NG_030583.1:g.2130T>C, NG_033879.1:g.16137T>C, NM_014281.5:c.495T>C, NM_014281.4:c.495T>C, NM_001136033.3:c.417T>C, NM_001136033.2:c.417T>C, NM_078480.3:c.546T>C, NM_078480.2:c.546T>C, NM_001362896.2:c.657T>C, NM_001362896.1:c.657T>C, NM_001362895.2:c.657T>C, NM_001362895.1:c.657T>C, NM_001362897.2:c.606T>C, NM_001362897.1:c.606T>C, NM_001271098.2:c.543T>C, NM_001271098.1:c.543T>C, NM_001271100.2:c.366T>C, NM_001271100.1:c.366T>C, NM_001271096.2:c.492T>C, NM_001271096.1:c.492T>C, NM_001271099.2:c.459T>C, NM_001271099.1:c.459T>C, NM_001271097.2:c.408T>C, NM_001271097.1:c.408T>C, NT_187571.1:g.295297A>G, NC_000008.10:g.144900420A>G, XM_017013234.2:c.657T>C, XM_017013234.1:c.657T>C, XM_017013236.2:c.606T>C, XM_017013236.1:c.606T>C, XM_047421579.1:c.654T>C, XM_047421583.1:c.603T>C, XM_047421578.1:c.657T>C, XM_047421581.1:c.606T>C, XM_047421580.1:c.654T>C, XM_047421582.1:c.606T>C

                8.

                rs1470702077 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  8:143818459 (GRCh38)
                  8:144900629 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:143818458:CCCCC:CCCC
                  Gene:
                  PUF60 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  HGVS:
                  NC_000008.11:g.143818463del, NW_003315923.1:g.157108del, NG_030583.1:g.1921del, NG_033879.1:g.15928del, NM_014281.5:c.373del, NM_014281.4:c.373del, NM_001136033.3:c.295del, NM_001136033.2:c.295del, NM_078480.3:c.424del, NM_078480.2:c.424del, NM_001362896.2:c.535del, NM_001362896.1:c.535del, NM_001362895.2:c.535del, NM_001362895.1:c.535del, NM_001362897.2:c.484del, NM_001362897.1:c.484del, NM_001271098.2:c.421del, NM_001271098.1:c.421del, NM_001271100.2:c.244del, NM_001271100.1:c.244del, NM_001271096.2:c.370del, NM_001271096.1:c.370del, NM_001271099.2:c.337del, NM_001271099.1:c.337del, NM_001271097.2:c.286del, NM_001271097.1:c.286del, NT_187571.1:g.295510del, NC_000008.10:g.144900633del, XM_017013234.2:c.535del, XM_017013234.1:c.535del, XM_017013236.2:c.484del, XM_017013236.1:c.484del, XM_047421579.1:c.532del, XM_047421583.1:c.481del, XM_047421582.1:c.484del, XM_047421581.1:c.484del, XM_047421580.1:c.532del, XM_047421578.1:c.535del, NP_055096.2:p.Glu125fs, NP_001129505.1:p.Glu99fs, NP_510965.1:p.Glu142fs, NP_001349825.1:p.Glu179fs, NP_001349824.1:p.Glu179fs, NP_001349826.1:p.Glu162fs, NP_001258027.1:p.Glu141fs, NP_001258029.1:p.Glu82fs, NP_001258025.1:p.Glu124fs, NP_001258028.1:p.Glu113fs, NP_001258026.1:p.Glu96fs, XP_016868723.1:p.Glu179fs, XP_016868725.1:p.Glu162fs, XP_047277535.1:p.Glu178fs, XP_047277539.1:p.Glu161fs, XP_047277538.1:p.Glu162fs, XP_047277537.1:p.Glu162fs, XP_047277536.1:p.Glu178fs, XP_047277534.1:p.Glu179fs

                  9.

                  rs1470612920 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    8:143817045 (GRCh38)
                    8:144899215 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:143817044:G:C
                    Gene:
                    PUF60 (Varview), SCRIB (Varview)
                    Functional Consequence:
                    synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000008.11:g.143817045G>C, NW_003315923.1:g.155690G>C, NG_030583.1:g.3335C>G, NG_033879.1:g.17342C>G, NM_014281.5:c.1194C>G, NM_014281.4:c.1194C>G, NM_001136033.3:c.1116C>G, NM_001136033.2:c.1116C>G, NM_078480.3:c.1245C>G, NM_078480.2:c.1245C>G, NM_001362896.2:c.1356C>G, NM_001362896.1:c.1356C>G, NM_001362895.2:c.1356C>G, NM_001362895.1:c.1356C>G, NM_001362897.2:c.1305C>G, NM_001362897.1:c.1305C>G, NM_001271098.2:c.1242C>G, NM_001271098.1:c.1242C>G, NM_001271100.2:c.1065C>G, NM_001271100.1:c.1065C>G, NM_001271096.2:c.1191C>G, NM_001271096.1:c.1191C>G, NM_001271099.2:c.1158C>G, NM_001271099.1:c.1158C>G, NM_001271097.2:c.1107C>G, NM_001271097.1:c.1107C>G, NT_187571.1:g.294092G>C, NC_000008.10:g.144899215G>C, XM_017013234.2:c.1356C>G, XM_017013234.1:c.1356C>G, XM_017013236.2:c.1305C>G, XM_017013236.1:c.1305C>G, XM_047421579.1:c.1353C>G, XM_047421583.1:c.1302C>G, XM_047421578.1:c.1356C>G, XM_047421581.1:c.1305C>G, XM_047421580.1:c.1353C>G, XM_047421582.1:c.1305C>G

                    10.

                    rs1470495710 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      8:143829284 (GRCh38)
                      8:144911454 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:143829283:G:A,NC_000008.11:143829283:G:C
                      Gene:
                      PUF60 (Varview), NRBP2 (Varview), LOC107986985 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000008.11:g.143829284G>A, NC_000008.11:g.143829284G>C, NW_003315923.1:g.167929G>A, NW_003315923.1:g.167929G>C, NG_033879.1:g.5103C>T, NG_033879.1:g.5103C>G, NM_014281.5:c.20C>T, NM_014281.5:c.20C>G, NM_014281.4:c.20C>T, NM_014281.4:c.20C>G, NM_078480.3:c.20C>T, NM_078480.3:c.20C>G, NM_078480.2:c.20C>T, NM_078480.2:c.20C>G, NM_001271098.2:c.20C>T, NM_001271098.2:c.20C>G, NM_001271098.1:c.20C>T, NM_001271098.1:c.20C>G, NM_001271096.2:c.20C>T, NM_001271096.2:c.20C>G, NM_001271096.1:c.20C>T, NM_001271096.1:c.20C>G, NM_001271099.2:c.20C>T, NM_001271099.2:c.20C>G, NM_001271099.1:c.20C>T, NM_001271099.1:c.20C>G, NM_001271097.2:c.20C>T, NM_001271097.2:c.20C>G, NM_001271097.1:c.20C>T, NM_001271097.1:c.20C>G, NC_000008.10:g.144911454G>A, NC_000008.10:g.144911454G>C, XM_017013234.2:c.-1765C>T, XM_017013234.2:c.-1765C>G, XM_017013236.2:c.-1765C>T, XM_017013236.2:c.-1765C>G, XR_001746138.2:n.5G>A, XR_001746138.2:n.5G>C, XR_001746138.1:n.5G>A, XR_001746138.1:n.5G>C, XM_047421579.1:c.-1765C>T, XM_047421579.1:c.-1765C>G, XM_047421583.1:c.-1765C>T, XM_047421583.1:c.-1765C>G, XM_047421578.1:c.-398C>T, XM_047421578.1:c.-398C>G, XM_047421582.1:c.-398C>T, XM_047421582.1:c.-398C>G, NP_055096.2:p.Ala7Val, NP_055096.2:p.Ala7Gly, NP_510965.1:p.Ala7Val, NP_510965.1:p.Ala7Gly, NP_001258027.1:p.Ala7Val, NP_001258027.1:p.Ala7Gly, NP_001258025.1:p.Ala7Val, NP_001258025.1:p.Ala7Gly, NP_001258028.1:p.Ala7Val, NP_001258028.1:p.Ala7Gly, NP_001258026.1:p.Ala7Val, NP_001258026.1:p.Ala7Gly

                      11.

                      rs1467251207 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        8:143824394 (GRCh38)
                        8:144906564 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:143824393:G:T
                        Gene:
                        PUF60 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.143824394G>T, NW_003315923.1:g.163039G>T, NG_033879.1:g.9993C>A, NM_014281.5:c.30C>A, NM_014281.4:c.30C>A, NM_001136033.3:c.-100C>A, NM_001136033.2:c.-100C>A, NM_078480.3:c.30C>A, NM_078480.2:c.30C>A, NM_001362896.2:c.141C>A, NM_001362896.1:c.141C>A, NM_001362895.2:c.141C>A, NM_001362895.1:c.141C>A, NM_001362897.2:c.141C>A, NM_001362897.1:c.141C>A, NM_001271098.2:c.27C>A, NM_001271098.1:c.27C>A, NM_001271100.2:c.-100C>A, NM_001271100.1:c.-100C>A, NM_001271096.2:c.27C>A, NM_001271096.1:c.27C>A, NT_187571.1:g.301441G>T, NC_000008.10:g.144906564G>T, XM_017013234.2:c.141C>A, XM_017013234.1:c.141C>A, XM_017013236.2:c.141C>A, XM_017013236.1:c.141C>A, XM_047421579.1:c.138C>A, XM_047421582.1:c.141C>A, XM_047421580.1:c.138C>A, XM_047421578.1:c.141C>A, XM_047421583.1:c.138C>A, XM_047421581.1:c.141C>A

                        12.

                        rs1466762286 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          8:143824371 (GRCh38)
                          8:144906541 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:143824370:G:A,NC_000008.11:143824370:G:C
                          Gene:
                          PUF60 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000028/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.143824371G>A, NC_000008.11:g.143824371G>C, NW_003315923.1:g.163016G>A, NW_003315923.1:g.163016G>C, NG_033879.1:g.10016C>T, NG_033879.1:g.10016C>G, NM_014281.5:c.53C>T, NM_014281.5:c.53C>G, NM_014281.4:c.53C>T, NM_014281.4:c.53C>G, NM_001136033.3:c.-77C>T, NM_001136033.3:c.-77C>G, NM_001136033.2:c.-77C>T, NM_001136033.2:c.-77C>G, NM_078480.3:c.53C>T, NM_078480.3:c.53C>G, NM_078480.2:c.53C>T, NM_078480.2:c.53C>G, NM_001362896.2:c.164C>T, NM_001362896.2:c.164C>G, NM_001362896.1:c.164C>T, NM_001362896.1:c.164C>G, NM_001362895.2:c.164C>T, NM_001362895.2:c.164C>G, NM_001362895.1:c.164C>T, NM_001362895.1:c.164C>G, NM_001362897.2:c.164C>T, NM_001362897.2:c.164C>G, NM_001362897.1:c.164C>T, NM_001362897.1:c.164C>G, NM_001271098.2:c.50C>T, NM_001271098.2:c.50C>G, NM_001271098.1:c.50C>T, NM_001271098.1:c.50C>G, NM_001271100.2:c.-77C>T, NM_001271100.2:c.-77C>G, NM_001271100.1:c.-77C>T, NM_001271100.1:c.-77C>G, NM_001271096.2:c.50C>T, NM_001271096.2:c.50C>G, NM_001271096.1:c.50C>T, NM_001271096.1:c.50C>G, NT_187571.1:g.301418G>A, NT_187571.1:g.301418G>C, NC_000008.10:g.144906541G>A, NC_000008.10:g.144906541G>C, XM_017013234.2:c.164C>T, XM_017013234.2:c.164C>G, XM_017013234.1:c.164C>T, XM_017013234.1:c.164C>G, XM_017013236.2:c.164C>T, XM_017013236.2:c.164C>G, XM_017013236.1:c.164C>T, XM_017013236.1:c.164C>G, XM_047421579.1:c.161C>T, XM_047421579.1:c.161C>G, XM_047421582.1:c.164C>T, XM_047421582.1:c.164C>G, XM_047421580.1:c.161C>T, XM_047421580.1:c.161C>G, XM_047421578.1:c.164C>T, XM_047421578.1:c.164C>G, XM_047421583.1:c.161C>T, XM_047421583.1:c.161C>G, XM_047421581.1:c.164C>T, XM_047421581.1:c.164C>G, NP_055096.2:p.Ser18Phe, NP_055096.2:p.Ser18Cys, NP_510965.1:p.Ser18Phe, NP_510965.1:p.Ser18Cys, NP_001349825.1:p.Ser55Phe, NP_001349825.1:p.Ser55Cys, NP_001349824.1:p.Ser55Phe, NP_001349824.1:p.Ser55Cys, NP_001349826.1:p.Ser55Phe, NP_001349826.1:p.Ser55Cys, NP_001258027.1:p.Ser17Phe, NP_001258027.1:p.Ser17Cys, NP_001258025.1:p.Ser17Phe, NP_001258025.1:p.Ser17Cys, XP_016868723.1:p.Ser55Phe, XP_016868723.1:p.Ser55Cys, XP_016868725.1:p.Ser55Phe, XP_016868725.1:p.Ser55Cys, XP_047277535.1:p.Ser54Phe, XP_047277535.1:p.Ser54Cys, XP_047277538.1:p.Ser55Phe, XP_047277538.1:p.Ser55Cys, XP_047277536.1:p.Ser54Phe, XP_047277536.1:p.Ser54Cys, XP_047277534.1:p.Ser55Phe, XP_047277534.1:p.Ser55Cys, XP_047277539.1:p.Ser54Phe, XP_047277539.1:p.Ser54Cys, XP_047277537.1:p.Ser55Phe, XP_047277537.1:p.Ser55Cys

                          13.

                          rs1466383479 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:143816688 (GRCh38)
                            8:144898858 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:143816687:G:A
                            Gene:
                            PUF60 (Varview), SCRIB (Varview)
                            Functional Consequence:
                            synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000008.11:g.143816688G>A, NW_003315923.1:g.155333G>A, NG_030583.1:g.3692C>T, NG_033879.1:g.17699C>T, NM_014281.5:c.1461C>T, NM_014281.4:c.1461C>T, NM_001136033.3:c.1383C>T, NM_001136033.2:c.1383C>T, NM_078480.3:c.1512C>T, NM_078480.2:c.1512C>T, NM_001362896.2:c.1623C>T, NM_001362896.1:c.1623C>T, NM_001362895.2:c.1623C>T, NM_001362895.1:c.1623C>T, NM_001362897.2:c.1572C>T, NM_001362897.1:c.1572C>T, NM_001271098.2:c.1509C>T, NM_001271098.1:c.1509C>T, NM_001271100.2:c.1332C>T, NM_001271100.1:c.1332C>T, NM_001271096.2:c.1458C>T, NM_001271096.1:c.1458C>T, NM_001271099.2:c.1425C>T, NM_001271099.1:c.1425C>T, NM_001271097.2:c.1374C>T, NM_001271097.1:c.1374C>T, NT_187571.1:g.293735G>A, NC_000008.10:g.144898858G>A, XM_017013234.2:c.1623C>T, XM_017013234.1:c.1623C>T, XM_017013236.2:c.1572C>T, XM_017013236.1:c.1572C>T, XM_047421579.1:c.1620C>T, XM_047421583.1:c.1569C>T, XM_047421578.1:c.1623C>T, XM_047421581.1:c.1572C>T, XM_047421580.1:c.1620C>T, XM_047421582.1:c.1572C>T

                            14.

                            rs1464362967 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              8:143824381 (GRCh38)
                              8:144906551 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:143824380:C:G
                              Gene:
                              PUF60 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.143824381C>G, NW_003315923.1:g.163026C>G, NG_033879.1:g.10006G>C, NM_014281.5:c.43G>C, NM_014281.4:c.43G>C, NM_001136033.3:c.-87G>C, NM_001136033.2:c.-87G>C, NM_078480.3:c.43G>C, NM_078480.2:c.43G>C, NM_001362896.2:c.154G>C, NM_001362896.1:c.154G>C, NM_001362895.2:c.154G>C, NM_001362895.1:c.154G>C, NM_001362897.2:c.154G>C, NM_001362897.1:c.154G>C, NM_001271098.2:c.40G>C, NM_001271098.1:c.40G>C, NM_001271100.2:c.-87G>C, NM_001271100.1:c.-87G>C, NM_001271096.2:c.40G>C, NM_001271096.1:c.40G>C, NT_187571.1:g.301428C>G, NC_000008.10:g.144906551C>G, XM_017013234.2:c.154G>C, XM_017013234.1:c.154G>C, XM_017013236.2:c.154G>C, XM_017013236.1:c.154G>C, XM_047421579.1:c.151G>C, XM_047421582.1:c.154G>C, XM_047421580.1:c.151G>C, XM_047421578.1:c.154G>C, XM_047421583.1:c.151G>C, XM_047421581.1:c.154G>C, NP_055096.2:p.Gly15Arg, NP_510965.1:p.Gly15Arg, NP_001349825.1:p.Gly52Arg, NP_001349824.1:p.Gly52Arg, NP_001349826.1:p.Gly52Arg, NP_001258027.1:p.Gly14Arg, NP_001258025.1:p.Gly14Arg, XP_016868723.1:p.Gly52Arg, XP_016868725.1:p.Gly52Arg, XP_047277535.1:p.Gly51Arg, XP_047277538.1:p.Gly52Arg, XP_047277536.1:p.Gly51Arg, XP_047277534.1:p.Gly52Arg, XP_047277539.1:p.Gly51Arg, XP_047277537.1:p.Gly52Arg

                              15.

                              rs1464195034 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:143817781 (GRCh38)
                                8:144899951 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:143817780:C:T
                                Gene:
                                PUF60 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000056/2 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000008.11:g.143817781C>T, NW_003315923.1:g.156426C>T, NG_030583.1:g.2599G>A, NG_033879.1:g.16606G>A, NM_014281.5:c.768G>A, NM_014281.4:c.768G>A, NM_001136033.3:c.690G>A, NM_001136033.2:c.690G>A, NM_078480.3:c.819G>A, NM_078480.2:c.819G>A, NM_001362896.2:c.930G>A, NM_001362896.1:c.930G>A, NM_001362895.2:c.930G>A, NM_001362895.1:c.930G>A, NM_001362897.2:c.879G>A, NM_001362897.1:c.879G>A, NM_001271098.2:c.816G>A, NM_001271098.1:c.816G>A, NM_001271100.2:c.639G>A, NM_001271100.1:c.639G>A, NM_001271096.2:c.765G>A, NM_001271096.1:c.765G>A, NM_001271099.2:c.732G>A, NM_001271099.1:c.732G>A, NM_001271097.2:c.681G>A, NM_001271097.1:c.681G>A, NT_187571.1:g.294828C>T, NC_000008.10:g.144899951C>T, XM_017013234.2:c.930G>A, XM_017013234.1:c.930G>A, XM_017013236.2:c.879G>A, XM_017013236.1:c.879G>A, XM_047421579.1:c.927G>A, XM_047421583.1:c.876G>A, XM_047421582.1:c.879G>A, XM_047421581.1:c.879G>A, XM_047421580.1:c.927G>A, XM_047421578.1:c.930G>A

                                16.

                                rs1464053660 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  8:143821623 (GRCh38)
                                  8:144903793 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:143821622:G:A,NC_000008.11:143821622:G:T
                                  Gene:
                                  PUF60 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant,missense_variant
                                  Clinical significance:
                                  pathogenic
                                  HGVS:
                                  NC_000008.11:g.143821623G>A, NC_000008.11:g.143821623G>T, NW_003315923.1:g.160268G>A, NW_003315923.1:g.160268G>T, NG_033879.1:g.12764C>T, NG_033879.1:g.12764C>A, NM_014281.5:c.271C>T, NM_014281.5:c.271C>A, NM_014281.4:c.271C>T, NM_014281.4:c.271C>A, NM_001136033.3:c.142C>T, NM_001136033.3:c.142C>A, NM_001136033.2:c.142C>T, NM_001136033.2:c.142C>A, NM_078480.3:c.271C>T, NM_078480.3:c.271C>A, NM_078480.2:c.271C>T, NM_078480.2:c.271C>A, NM_001362896.2:c.382C>T, NM_001362896.2:c.382C>A, NM_001362896.1:c.382C>T, NM_001362896.1:c.382C>A, NM_001362895.2:c.382C>T, NM_001362895.2:c.382C>A, NM_001362895.1:c.382C>T, NM_001362895.1:c.382C>A, NM_001362897.2:c.382C>T, NM_001362897.2:c.382C>A, NM_001362897.1:c.382C>T, NM_001362897.1:c.382C>A, NM_001271098.2:c.268C>T, NM_001271098.2:c.268C>A, NM_001271098.1:c.268C>T, NM_001271098.1:c.268C>A, NM_001271100.2:c.142C>T, NM_001271100.2:c.142C>A, NM_001271100.1:c.142C>T, NM_001271100.1:c.142C>A, NM_001271096.2:c.268C>T, NM_001271096.2:c.268C>A, NM_001271096.1:c.268C>T, NM_001271096.1:c.268C>A, NM_001271099.2:c.184C>T, NM_001271099.2:c.184C>A, NM_001271099.1:c.184C>T, NM_001271099.1:c.184C>A, NM_001271097.2:c.184C>T, NM_001271097.2:c.184C>A, NM_001271097.1:c.184C>T, NM_001271097.1:c.184C>A, NT_187571.1:g.298670G>A, NT_187571.1:g.298670G>T, NC_000008.10:g.144903793G>A, NC_000008.10:g.144903793G>T, XM_017013234.2:c.382C>T, XM_017013234.2:c.382C>A, XM_017013234.1:c.382C>T, XM_017013234.1:c.382C>A, XM_017013236.2:c.382C>T, XM_017013236.2:c.382C>A, XM_017013236.1:c.382C>T, XM_017013236.1:c.382C>A, XM_047421583.1:c.379C>T, XM_047421583.1:c.379C>A, XM_047421578.1:c.382C>T, XM_047421578.1:c.382C>A, XM_047421579.1:c.379C>T, XM_047421579.1:c.379C>A, XM_047421582.1:c.382C>T, XM_047421582.1:c.382C>A, XM_047421581.1:c.382C>T, XM_047421581.1:c.382C>A, XM_047421580.1:c.379C>T, XM_047421580.1:c.379C>A, NP_055096.2:p.Gln91Ter, NP_055096.2:p.Gln91Lys, NP_001129505.1:p.Gln48Ter, NP_001129505.1:p.Gln48Lys, NP_510965.1:p.Gln91Ter, NP_510965.1:p.Gln91Lys, NP_001349825.1:p.Gln128Ter, NP_001349825.1:p.Gln128Lys, NP_001349824.1:p.Gln128Ter, NP_001349824.1:p.Gln128Lys, NP_001349826.1:p.Gln128Ter, NP_001349826.1:p.Gln128Lys, NP_001258027.1:p.Gln90Ter, NP_001258027.1:p.Gln90Lys, NP_001258029.1:p.Gln48Ter, NP_001258029.1:p.Gln48Lys, NP_001258025.1:p.Gln90Ter, NP_001258025.1:p.Gln90Lys, NP_001258028.1:p.Gln62Ter, NP_001258028.1:p.Gln62Lys, NP_001258026.1:p.Gln62Ter, NP_001258026.1:p.Gln62Lys, XP_016868723.1:p.Gln128Ter, XP_016868723.1:p.Gln128Lys, XP_016868725.1:p.Gln128Ter, XP_016868725.1:p.Gln128Lys, XP_047277539.1:p.Gln127Ter, XP_047277539.1:p.Gln127Lys, XP_047277534.1:p.Gln128Ter, XP_047277534.1:p.Gln128Lys, XP_047277535.1:p.Gln127Ter, XP_047277535.1:p.Gln127Lys, XP_047277538.1:p.Gln128Ter, XP_047277538.1:p.Gln128Lys, XP_047277537.1:p.Gln128Ter, XP_047277537.1:p.Gln128Lys, XP_047277536.1:p.Gln127Ter, XP_047277536.1:p.Gln127Lys

                                  17.

                                  rs1460193097 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:143816913 (GRCh38)
                                    8:144899083 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:143816912:C:T
                                    Gene:
                                    PUF60 (Varview), SCRIB (Varview)
                                    Functional Consequence:
                                    synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.143816913C>T, NW_003315923.1:g.155558C>T, NG_030583.1:g.3467G>A, NG_033879.1:g.17474G>A, NM_014281.5:c.1326G>A, NM_014281.4:c.1326G>A, NM_001136033.3:c.1248G>A, NM_001136033.2:c.1248G>A, NM_078480.3:c.1377G>A, NM_078480.2:c.1377G>A, NM_001362896.2:c.1488G>A, NM_001362896.1:c.1488G>A, NM_001362895.2:c.1488G>A, NM_001362895.1:c.1488G>A, NM_001362897.2:c.1437G>A, NM_001362897.1:c.1437G>A, NM_001271098.2:c.1374G>A, NM_001271098.1:c.1374G>A, NM_001271100.2:c.1197G>A, NM_001271100.1:c.1197G>A, NM_001271096.2:c.1323G>A, NM_001271096.1:c.1323G>A, NM_001271099.2:c.1290G>A, NM_001271099.1:c.1290G>A, NM_001271097.2:c.1239G>A, NM_001271097.1:c.1239G>A, NT_187571.1:g.293960C>T, NC_000008.10:g.144899083C>T, XM_017013234.2:c.1488G>A, XM_017013234.1:c.1488G>A, XM_017013236.2:c.1437G>A, XM_017013236.1:c.1437G>A, XM_047421579.1:c.1485G>A, XM_047421583.1:c.1434G>A, XM_047421582.1:c.1437G>A, XM_047421581.1:c.1437G>A, XM_047421580.1:c.1485G>A, XM_047421578.1:c.1488G>A

                                    18.

                                    rs1458777514 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:143816548 (GRCh38)
                                      8:144898718 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:143816547:C:T
                                      Gene:
                                      PUF60 (Varview), SCRIB (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.143816548C>T, NW_003315923.1:g.155193C>T, NG_030583.1:g.3832G>A, NG_033879.1:g.17839G>A, NM_014281.5:c.1601G>A, NM_014281.4:c.1601G>A, NM_001136033.3:c.1523G>A, NM_001136033.2:c.1523G>A, NM_078480.3:c.1652G>A, NM_078480.2:c.1652G>A, NM_001362896.2:c.1763G>A, NM_001362896.1:c.1763G>A, NM_001362895.2:c.1763G>A, NM_001362895.1:c.1763G>A, NM_001362897.2:c.1712G>A, NM_001362897.1:c.1712G>A, NM_001271098.2:c.1649G>A, NM_001271098.1:c.1649G>A, NM_001271100.2:c.1472G>A, NM_001271100.1:c.1472G>A, NM_001271096.2:c.1598G>A, NM_001271096.1:c.1598G>A, NM_001271099.2:c.1565G>A, NM_001271099.1:c.1565G>A, NM_001271097.2:c.1514G>A, NM_001271097.1:c.1514G>A, NT_187571.1:g.293595C>T, NC_000008.10:g.144898718C>T, XM_017013234.2:c.1763G>A, XM_017013234.1:c.1763G>A, XM_017013236.2:c.1712G>A, XM_017013236.1:c.1712G>A, XM_047421579.1:c.1760G>A, XM_047421583.1:c.1709G>A, XM_047421578.1:c.1763G>A, XM_047421581.1:c.1712G>A, XM_047421580.1:c.1760G>A, XM_047421582.1:c.1712G>A, NP_055096.2:p.Arg534His, NP_001129505.1:p.Arg508His, NP_510965.1:p.Arg551His, NP_001349825.1:p.Arg588His, NP_001349824.1:p.Arg588His, NP_001349826.1:p.Arg571His, NP_001258027.1:p.Arg550His, NP_001258029.1:p.Arg491His, NP_001258025.1:p.Arg533His, NP_001258028.1:p.Arg522His, NP_001258026.1:p.Arg505His, XP_016868723.1:p.Arg588His, XP_016868725.1:p.Arg571His, XP_047277535.1:p.Arg587His, XP_047277539.1:p.Arg570His, XP_047277534.1:p.Arg588His, XP_047277537.1:p.Arg571His, XP_047277536.1:p.Arg587His, XP_047277538.1:p.Arg571His

                                      19.

                                      rs1455761568 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        8:143821660 (GRCh38)
                                        8:144903830 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:143821659:G:C
                                        Gene:
                                        PUF60 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000008.11:g.143821660G>C, NW_003315923.1:g.160305G>C, NG_033879.1:g.12727C>G, NM_014281.5:c.234C>G, NM_014281.4:c.234C>G, NM_001136033.3:c.105C>G, NM_001136033.2:c.105C>G, NM_078480.3:c.234C>G, NM_078480.2:c.234C>G, NM_001362896.2:c.345C>G, NM_001362896.1:c.345C>G, NM_001362895.2:c.345C>G, NM_001362895.1:c.345C>G, NM_001362897.2:c.345C>G, NM_001362897.1:c.345C>G, NM_001271098.2:c.231C>G, NM_001271098.1:c.231C>G, NM_001271100.2:c.105C>G, NM_001271100.1:c.105C>G, NM_001271096.2:c.231C>G, NM_001271096.1:c.231C>G, NM_001271099.2:c.147C>G, NM_001271099.1:c.147C>G, NM_001271097.2:c.147C>G, NM_001271097.1:c.147C>G, NT_187571.1:g.298707G>C, NC_000008.10:g.144903830G>C, XM_017013234.2:c.345C>G, XM_017013234.1:c.345C>G, XM_017013236.2:c.345C>G, XM_017013236.1:c.345C>G, XM_047421583.1:c.342C>G, XM_047421578.1:c.345C>G, XM_047421579.1:c.342C>G, XM_047421582.1:c.345C>G, XM_047421581.1:c.345C>G, XM_047421580.1:c.342C>G, NP_055096.2:p.Ser78Arg, NP_001129505.1:p.Ser35Arg, NP_510965.1:p.Ser78Arg, NP_001349825.1:p.Ser115Arg, NP_001349824.1:p.Ser115Arg, NP_001349826.1:p.Ser115Arg, NP_001258027.1:p.Ser77Arg, NP_001258029.1:p.Ser35Arg, NP_001258025.1:p.Ser77Arg, NP_001258028.1:p.Ser49Arg, NP_001258026.1:p.Ser49Arg, XP_016868723.1:p.Ser115Arg, XP_016868725.1:p.Ser115Arg, XP_047277539.1:p.Ser114Arg, XP_047277534.1:p.Ser115Arg, XP_047277535.1:p.Ser114Arg, XP_047277538.1:p.Ser115Arg, XP_047277537.1:p.Ser115Arg, XP_047277536.1:p.Ser114Arg

                                        20.

                                        rs1454130802 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          8:143817623 (GRCh38)
                                          8:144899793 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:143817622:G:C
                                          Gene:
                                          PUF60 (Varview), SCRIB (Varview)
                                          Functional Consequence:
                                          missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.143817623G>C, NW_003315923.1:g.156268G>C, NG_030583.1:g.2757C>G, NG_033879.1:g.16764C>G, NM_014281.5:c.926C>G, NM_014281.4:c.926C>G, NM_001136033.3:c.848C>G, NM_001136033.2:c.848C>G, NM_078480.3:c.977C>G, NM_078480.2:c.977C>G, NM_001362896.2:c.1088C>G, NM_001362896.1:c.1088C>G, NM_001362895.2:c.1088C>G, NM_001362895.1:c.1088C>G, NM_001362897.2:c.1037C>G, NM_001362897.1:c.1037C>G, NM_001271098.2:c.974C>G, NM_001271098.1:c.974C>G, NM_001271100.2:c.797C>G, NM_001271100.1:c.797C>G, NM_001271096.2:c.923C>G, NM_001271096.1:c.923C>G, NM_001271099.2:c.890C>G, NM_001271099.1:c.890C>G, NM_001271097.2:c.839C>G, NM_001271097.1:c.839C>G, NT_187571.1:g.294670G>C, NC_000008.10:g.144899793G>C, XM_017013234.2:c.1088C>G, XM_017013234.1:c.1088C>G, XM_017013236.2:c.1037C>G, XM_017013236.1:c.1037C>G, XM_047421579.1:c.1085C>G, XM_047421583.1:c.1034C>G, XM_047421582.1:c.1037C>G, XM_047421581.1:c.1037C>G, XM_047421580.1:c.1085C>G, XM_047421578.1:c.1088C>G, NP_055096.2:p.Ala309Gly, NP_001129505.1:p.Ala283Gly, NP_510965.1:p.Ala326Gly, NP_001349825.1:p.Ala363Gly, NP_001349824.1:p.Ala363Gly, NP_001349826.1:p.Ala346Gly, NP_001258027.1:p.Ala325Gly, NP_001258029.1:p.Ala266Gly, NP_001258025.1:p.Ala308Gly, NP_001258028.1:p.Ala297Gly, NP_001258026.1:p.Ala280Gly, XP_016868723.1:p.Ala363Gly, XP_016868725.1:p.Ala346Gly, XP_047277535.1:p.Ala362Gly, XP_047277539.1:p.Ala345Gly, XP_047277538.1:p.Ala346Gly, XP_047277537.1:p.Ala346Gly, XP_047277536.1:p.Ala362Gly, XP_047277534.1:p.Ala363Gly

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...