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Items: 1 to 20 of 612

1.

rs1489137395 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:45622654 (GRCh38)
    1:46088326 (GRCh37)
    Canonical SPDI:
    NC_000001.11:45622653:C:T
    Gene:
    CCDC17 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    HGVS:
    NC_000001.11:g.45622654C>T, NC_000001.10:g.46088326C>T, NM_001114938.3:c.754G>A, NM_001114938.2:c.754G>A, XM_011540812.2:c.853G>A, XM_011540812.1:c.853G>A, XM_017000450.2:c.826G>A, XM_017000450.1:c.826G>A, XM_011540814.2:c.853G>A, XM_011540814.1:c.853G>A, XM_017000451.2:c.757G>A, XM_017000451.1:c.757G>A, XM_017000452.2:c.754G>A, XM_017000452.1:c.754G>A, XM_017000453.2:c.853G>A, XM_017000453.1:c.853G>A, XM_017000454.2:c.658G>A, XM_017000454.1:c.658G>A, NM_001190182.2:c.727G>A, NM_001190182.1:c.727G>A, XM_017000455.2:c.217G>A, XM_017000455.1:c.217G>A, NM_152500.2:c.217G>A, XM_011540820.2:c.853G>A, XM_011540820.1:c.853G>A, NM_152500.1:c.658G>A, XM_047447377.1:c.658G>A, XM_017000456.1:c.217G>A, NP_001108410.2:p.Ala252Thr, XP_011539114.1:p.Ala285Thr, XP_016855939.1:p.Ala276Thr, XP_011539116.1:p.Ala285Thr, XP_016855940.1:p.Ala253Thr, XP_016855941.1:p.Ala252Thr, XP_016855942.1:p.Ala285Thr, XP_016855943.1:p.Ala220Thr, NP_001177111.1:p.Ala243Thr, XP_016855944.1:p.Ala73Thr, XP_011539122.1:p.Ala285Thr, XP_047303333.1:p.Ala220Thr, XP_016855945.1:p.Ala73Thr

    2.

    rs1487830475 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:45621287 (GRCh38)
      1:46086959 (GRCh37)
      Canonical SPDI:
      NC_000001.11:45621286:A:G
      Gene:
      CCDC17 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000001.11:g.45621287A>G, NC_000001.10:g.46086959A>G, NM_001114938.3:c.1382T>C, NM_001114938.2:c.1382T>C, XM_011540812.2:c.1481T>C, XM_011540812.1:c.1481T>C, XM_017000450.2:c.1454T>C, XM_017000450.1:c.1454T>C, XM_011540814.2:c.1481T>C, XM_011540814.1:c.1481T>C, XM_017000451.2:c.1385T>C, XM_017000451.1:c.1385T>C, XM_017000452.2:c.1382T>C, XM_017000452.1:c.1382T>C, XM_017000453.2:c.1373T>C, XM_017000453.1:c.1373T>C, XM_017000454.2:c.1286T>C, XM_017000454.1:c.1286T>C, NM_001190182.2:c.1355T>C, NM_001190182.1:c.1355T>C, XM_017000455.2:c.845T>C, XM_017000455.1:c.845T>C, NM_152500.2:c.845T>C, NM_152500.1:c.1286T>C, XM_047447377.1:c.1286T>C, XM_017000456.1:c.845T>C, NP_001108410.2:p.Val461Ala, XP_011539114.1:p.Val494Ala, XP_016855939.1:p.Val485Ala, XP_011539116.1:p.Val494Ala, XP_016855940.1:p.Val462Ala, XP_016855941.1:p.Val461Ala, XP_016855942.1:p.Val458Ala, XP_016855943.1:p.Val429Ala, NP_001177111.1:p.Val452Ala, XP_016855944.1:p.Val282Ala, XP_047303333.1:p.Val429Ala, XP_016855945.1:p.Val282Ala

      3.

      rs1485934391 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        1:45622314 (GRCh38)
        1:46087986 (GRCh37)
        Canonical SPDI:
        NC_000001.11:45622313:T:
        Gene:
        CCDC17 (Varview)
        Functional Consequence:
        frameshift_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.45622314del, NC_000001.10:g.46087986del, NM_001114938.3:c.894del, NM_001114938.2:c.894del, XM_011540812.2:c.993del, XM_011540812.1:c.993del, XM_017000450.2:c.966del, XM_017000450.1:c.966del, XM_011540814.2:c.993del, XM_011540814.1:c.993del, XM_017000451.2:c.897del, XM_017000451.1:c.897del, XM_017000452.2:c.894del, XM_017000452.1:c.894del, XM_017000454.2:c.798del, XM_017000454.1:c.798del, NM_001190182.2:c.867del, NM_001190182.1:c.867del, XM_017000455.2:c.357del, XM_017000455.1:c.357del, NM_152500.2:c.357del, XM_011540820.2:c.993del, XM_011540820.1:c.993del, NM_152500.1:c.798del, XM_047447377.1:c.798del, XM_017000456.1:c.357del, NP_001108410.2:p.Val299fs, XP_011539114.1:p.Val332fs, XP_016855939.1:p.Val323fs, XP_011539116.1:p.Val332fs, XP_016855940.1:p.Val300fs, XP_016855941.1:p.Val299fs, XP_016855943.1:p.Val267fs, NP_001177111.1:p.Val290fs, XP_016855944.1:p.Val120fs, XP_011539122.1:p.Val332fs, XP_047303333.1:p.Val267fs, XP_016855945.1:p.Val120fs

        4.

        rs1481710922 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:45621108 (GRCh38)
          1:46086780 (GRCh37)
          Canonical SPDI:
          NC_000001.11:45621107:G:A
          Gene:
          CCDC17 (Varview)
          Functional Consequence:
          downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.45621108G>A, NC_000001.10:g.46086780G>A, NM_001114938.3:c.1394C>T, NM_001114938.2:c.1394C>T, XM_011540812.2:c.1493C>T, XM_011540812.1:c.1493C>T, XM_017000450.2:c.1466C>T, XM_017000450.1:c.1466C>T, XM_011540814.2:c.1493C>T, XM_011540814.1:c.1493C>T, XM_017000451.2:c.1397C>T, XM_017000451.1:c.1397C>T, XM_017000452.2:c.1394C>T, XM_017000452.1:c.1394C>T, XM_017000453.2:c.1385C>T, XM_017000453.1:c.1385C>T, XM_017000454.2:c.1298C>T, XM_017000454.1:c.1298C>T, NM_001190182.2:c.1367C>T, NM_001190182.1:c.1367C>T, XM_017000455.2:c.857C>T, XM_017000455.1:c.857C>T, NM_152500.2:c.857C>T, NM_152500.1:c.1298C>T, XM_047447377.1:c.1298C>T, XM_017000456.1:c.857C>T, NP_001108410.2:p.Pro465Leu, XP_011539114.1:p.Pro498Leu, XP_016855939.1:p.Pro489Leu, XP_011539116.1:p.Pro498Leu, XP_016855940.1:p.Pro466Leu, XP_016855941.1:p.Pro465Leu, XP_016855942.1:p.Pro462Leu, XP_016855943.1:p.Pro433Leu, NP_001177111.1:p.Pro456Leu, XP_016855944.1:p.Pro286Leu, XP_047303333.1:p.Pro433Leu, XP_016855945.1:p.Pro286Leu

          5.

          rs1481051070 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:45620395 (GRCh38)
            1:46086067 (GRCh37)
            Canonical SPDI:
            NC_000001.11:45620394:G:A
            Gene:
            CCDC17 (Varview)
            Functional Consequence:
            synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
            HGVS:

            6.

            rs1474947920 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:45621690 (GRCh38)
              1:46087362 (GRCh37)
              Canonical SPDI:
              NC_000001.11:45621689:G:A
              Gene:
              CCDC17 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.45621690G>A, NC_000001.10:g.46087362G>A, NM_001114938.3:c.1132C>T, NM_001114938.2:c.1132C>T, XM_011540812.2:c.1231C>T, XM_011540812.1:c.1231C>T, XM_017000450.2:c.1204C>T, XM_017000450.1:c.1204C>T, XM_011540814.2:c.1231C>T, XM_011540814.1:c.1231C>T, XM_017000451.2:c.1135C>T, XM_017000451.1:c.1135C>T, XM_017000452.2:c.1132C>T, XM_017000452.1:c.1132C>T, XM_017000453.2:c.1123C>T, XM_017000453.1:c.1123C>T, XM_017000454.2:c.1036C>T, XM_017000454.1:c.1036C>T, NM_001190182.2:c.1105C>T, NM_001190182.1:c.1105C>T, XM_017000455.2:c.595C>T, XM_017000455.1:c.595C>T, NM_152500.2:c.595C>T, NM_152500.1:c.1036C>T, XM_047447377.1:c.1036C>T, XM_017000456.1:c.595C>T, NP_001108410.2:p.His378Tyr, XP_011539114.1:p.His411Tyr, XP_016855939.1:p.His402Tyr, XP_011539116.1:p.His411Tyr, XP_016855940.1:p.His379Tyr, XP_016855941.1:p.His378Tyr, XP_016855942.1:p.His375Tyr, XP_016855943.1:p.His346Tyr, NP_001177111.1:p.His369Tyr, XP_016855944.1:p.His199Tyr, XP_047303333.1:p.His346Tyr, XP_016855945.1:p.His199Tyr

              7.

              rs1474736665 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:45622963 (GRCh38)
                1:46088635 (GRCh37)
                Canonical SPDI:
                NC_000001.11:45622962:C:T
                Gene:
                CCDC17 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000009/2 (GnomAD_exomes)
                HGVS:

                8.

                rs1474710186 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TC>- [Show Flanks]
                  Chromosome:
                  1:45621942 (GRCh38)
                  1:46087614 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:45621937:TCTCTC:TCTC
                  Gene:
                  CCDC17 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TCTC=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.45621938TC[2], NC_000001.10:g.46087610TC[2], NM_001114938.3:c.1024_1025del, NM_001114938.2:c.1024_1025del, XM_011540812.2:c.1123_1124del, XM_011540812.1:c.1123_1124del, XM_017000450.2:c.1096_1097del, XM_017000450.1:c.1096_1097del, XM_011540814.2:c.1123_1124del, XM_011540814.1:c.1123_1124del, XM_017000451.2:c.1027_1028del, XM_017000451.1:c.1027_1028del, XM_017000452.2:c.1024_1025del, XM_017000452.1:c.1024_1025del, XM_017000453.2:c.1015_1016del, XM_017000453.1:c.1015_1016del, XM_017000454.2:c.928_929del, XM_017000454.1:c.928_929del, NM_001190182.2:c.997_998del, NM_001190182.1:c.997_998del, XM_017000455.2:c.487_488del, XM_017000455.1:c.487_488del, NM_152500.2:c.487_488del, XM_011540820.2:c.1123_1124del, XM_011540820.1:c.1123_1124del, NM_152500.1:c.928_929del, XM_047447377.1:c.928_929del, XM_017000456.1:c.487_488del, NP_001108410.2:p.Asp342fs, XP_011539114.1:p.Asp375fs, XP_016855939.1:p.Asp366fs, XP_011539116.1:p.Asp375fs, XP_016855940.1:p.Asp343fs, XP_016855941.1:p.Asp342fs, XP_016855942.1:p.Asp339fs, XP_016855943.1:p.Asp310fs, NP_001177111.1:p.Asp333fs, XP_016855944.1:p.Asp163fs, XP_011539122.1:p.Asp375fs, XP_047303333.1:p.Asp310fs, XP_016855945.1:p.Asp163fs

                  9.

                  rs1474265202 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:45622772 (GRCh38)
                    1:46088444 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:45622771:C:A
                    Gene:
                    CCDC17 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000001.11:g.45622772C>A, NC_000001.10:g.46088444C>A, NM_001114938.3:c.719G>T, NM_001114938.2:c.719G>T, XM_011540812.2:c.818G>T, XM_011540812.1:c.818G>T, XM_017000450.2:c.791G>T, XM_017000450.1:c.791G>T, XM_011540814.2:c.818G>T, XM_011540814.1:c.818G>T, XM_017000451.2:c.722G>T, XM_017000451.1:c.722G>T, XM_017000452.2:c.719G>T, XM_017000452.1:c.719G>T, XM_017000453.2:c.818G>T, XM_017000453.1:c.818G>T, XM_017000454.2:c.623G>T, XM_017000454.1:c.623G>T, NM_001190182.2:c.692G>T, NM_001190182.1:c.692G>T, XM_017000455.2:c.182G>T, XM_017000455.1:c.182G>T, NM_152500.2:c.182G>T, XM_011540820.2:c.818G>T, XM_011540820.1:c.818G>T, NM_152500.1:c.623G>T, XM_047447377.1:c.623G>T, XM_017000456.1:c.182G>T, NP_001108410.2:p.Gly240Val, XP_011539114.1:p.Gly273Val, XP_016855939.1:p.Gly264Val, XP_011539116.1:p.Gly273Val, XP_016855940.1:p.Gly241Val, XP_016855941.1:p.Gly240Val, XP_016855942.1:p.Gly273Val, XP_016855943.1:p.Gly208Val, NP_001177111.1:p.Gly231Val, XP_016855944.1:p.Gly61Val, XP_011539122.1:p.Gly273Val, XP_047303333.1:p.Gly208Val, XP_016855945.1:p.Gly61Val

                    10.

                    rs1474029001 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      1:45622242 (GRCh38)
                      1:46087914 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:45622241:C:A,NC_000001.11:45622241:C:G
                      Gene:
                      CCDC17 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.45622242C>A, NC_000001.11:g.45622242C>G, NC_000001.10:g.46087914C>A, NC_000001.10:g.46087914C>G, NM_001114938.3:c.966G>T, NM_001114938.3:c.966G>C, NM_001114938.2:c.966G>T, NM_001114938.2:c.966G>C, XM_011540812.2:c.1065G>T, XM_011540812.2:c.1065G>C, XM_011540812.1:c.1065G>T, XM_011540812.1:c.1065G>C, XM_017000450.2:c.1038G>T, XM_017000450.2:c.1038G>C, XM_017000450.1:c.1038G>T, XM_017000450.1:c.1038G>C, XM_011540814.2:c.1065G>T, XM_011540814.2:c.1065G>C, XM_011540814.1:c.1065G>T, XM_011540814.1:c.1065G>C, XM_017000451.2:c.969G>T, XM_017000451.2:c.969G>C, XM_017000451.1:c.969G>T, XM_017000451.1:c.969G>C, XM_017000452.2:c.966G>T, XM_017000452.2:c.966G>C, XM_017000452.1:c.966G>T, XM_017000452.1:c.966G>C, XM_017000454.2:c.870G>T, XM_017000454.2:c.870G>C, XM_017000454.1:c.870G>T, XM_017000454.1:c.870G>C, NM_001190182.2:c.939G>T, NM_001190182.2:c.939G>C, NM_001190182.1:c.939G>T, NM_001190182.1:c.939G>C, XM_017000455.2:c.429G>T, XM_017000455.2:c.429G>C, XM_017000455.1:c.429G>T, XM_017000455.1:c.429G>C, NM_152500.2:c.429G>T, NM_152500.2:c.429G>C, XM_011540820.2:c.1065G>T, XM_011540820.2:c.1065G>C, XM_011540820.1:c.1065G>T, XM_011540820.1:c.1065G>C, NM_152500.1:c.870G>T, NM_152500.1:c.870G>C, XM_047447377.1:c.870G>T, XM_047447377.1:c.870G>C, XM_017000456.1:c.429G>T, XM_017000456.1:c.429G>C, NP_001108410.2:p.Leu322Phe, NP_001108410.2:p.Leu322Phe, XP_011539114.1:p.Leu355Phe, XP_011539114.1:p.Leu355Phe, XP_016855939.1:p.Leu346Phe, XP_016855939.1:p.Leu346Phe, XP_011539116.1:p.Leu355Phe, XP_011539116.1:p.Leu355Phe, XP_016855940.1:p.Leu323Phe, XP_016855940.1:p.Leu323Phe, XP_016855941.1:p.Leu322Phe, XP_016855941.1:p.Leu322Phe, XP_016855943.1:p.Leu290Phe, XP_016855943.1:p.Leu290Phe, NP_001177111.1:p.Leu313Phe, NP_001177111.1:p.Leu313Phe, XP_016855944.1:p.Leu143Phe, XP_016855944.1:p.Leu143Phe, XP_011539122.1:p.Leu355Phe, XP_011539122.1:p.Leu355Phe, XP_047303333.1:p.Leu290Phe, XP_047303333.1:p.Leu290Phe, XP_016855945.1:p.Leu143Phe, XP_016855945.1:p.Leu143Phe

                      11.

                      rs1472693608 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:45621654 (GRCh38)
                        1:46087326 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:45621653:C:A
                        Gene:
                        CCDC17 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.45621654C>A, NC_000001.10:g.46087326C>A, NM_001114938.3:c.1168G>T, NM_001114938.2:c.1168G>T, XM_011540812.2:c.1267G>T, XM_011540812.1:c.1267G>T, XM_017000450.2:c.1240G>T, XM_017000450.1:c.1240G>T, XM_011540814.2:c.1267G>T, XM_011540814.1:c.1267G>T, XM_017000451.2:c.1171G>T, XM_017000451.1:c.1171G>T, XM_017000452.2:c.1168G>T, XM_017000452.1:c.1168G>T, XM_017000453.2:c.1159G>T, XM_017000453.1:c.1159G>T, XM_017000454.2:c.1072G>T, XM_017000454.1:c.1072G>T, NM_001190182.2:c.1141G>T, NM_001190182.1:c.1141G>T, XM_017000455.2:c.631G>T, XM_017000455.1:c.631G>T, NM_152500.2:c.631G>T, NM_152500.1:c.1072G>T, XM_047447377.1:c.1072G>T, XM_017000456.1:c.631G>T, NP_001108410.2:p.Ala390Ser, XP_011539114.1:p.Ala423Ser, XP_016855939.1:p.Ala414Ser, XP_011539116.1:p.Ala423Ser, XP_016855940.1:p.Ala391Ser, XP_016855941.1:p.Ala390Ser, XP_016855942.1:p.Ala387Ser, XP_016855943.1:p.Ala358Ser, NP_001177111.1:p.Ala381Ser, XP_016855944.1:p.Ala211Ser, XP_047303333.1:p.Ala358Ser, XP_016855945.1:p.Ala211Ser

                        12.

                        rs1471218081 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:45620355 (GRCh38)
                          1:46086027 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:45620354:C:T
                          Gene:
                          CCDC17 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.45620355C>T, NC_000001.10:g.46086027C>T, NG_029224.1:g.41368C>T, NM_001114938.3:c.1789G>A, NM_001114938.2:c.1789G>A, XM_011540812.2:c.1957G>A, XM_011540812.1:c.1957G>A, XM_017000450.2:c.1930G>A, XM_017000450.1:c.1930G>A, XM_011540814.2:c.1888G>A, XM_011540814.1:c.1888G>A, XM_017000451.2:c.1861G>A, XM_017000451.1:c.1861G>A, XM_017000452.2:c.1858G>A, XM_017000452.1:c.1858G>A, XM_017000453.2:c.1849G>A, XM_017000453.1:c.1849G>A, XM_017000454.2:c.1762G>A, XM_017000454.1:c.1762G>A, NM_001190182.2:c.1762G>A, NM_001190182.1:c.1762G>A, XM_017000455.2:c.1321G>A, XM_017000455.1:c.1321G>A, NM_152500.2:c.1252G>A, NM_152500.1:c.*193G>A, XM_017000456.1:c.1321G>A, NP_001108410.2:p.Glu597Lys, XP_011539114.1:p.Glu653Lys, XP_016855939.1:p.Glu644Lys, XP_011539116.1:p.Glu630Lys, XP_016855940.1:p.Glu621Lys, XP_016855941.1:p.Glu620Lys, XP_016855942.1:p.Glu617Lys, XP_016855943.1:p.Glu588Lys, NP_001177111.1:p.Glu588Lys, XP_016855944.1:p.Glu441Lys, XP_016855945.1:p.Glu441Lys

                          13.

                          rs1470665082 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:45621056 (GRCh38)
                            1:46086728 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:45621055:T:C
                            Gene:
                            CCDC17 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1470341055 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:45622764 (GRCh38)
                              1:46088436 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:45622763:C:A
                              Gene:
                              CCDC17 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000001.11:g.45622764C>A, NC_000001.10:g.46088436C>A, NM_001114938.3:c.727G>T, NM_001114938.2:c.727G>T, XM_011540812.2:c.826G>T, XM_011540812.1:c.826G>T, XM_017000450.2:c.799G>T, XM_017000450.1:c.799G>T, XM_011540814.2:c.826G>T, XM_011540814.1:c.826G>T, XM_017000451.2:c.730G>T, XM_017000451.1:c.730G>T, XM_017000452.2:c.727G>T, XM_017000452.1:c.727G>T, XM_017000453.2:c.826G>T, XM_017000453.1:c.826G>T, XM_017000454.2:c.631G>T, XM_017000454.1:c.631G>T, NM_001190182.2:c.700G>T, NM_001190182.1:c.700G>T, XM_017000455.2:c.190G>T, XM_017000455.1:c.190G>T, NM_152500.2:c.190G>T, XM_011540820.2:c.826G>T, XM_011540820.1:c.826G>T, NM_152500.1:c.631G>T, XM_047447377.1:c.631G>T, XM_017000456.1:c.190G>T, NP_001108410.2:p.Ala243Ser, XP_011539114.1:p.Ala276Ser, XP_016855939.1:p.Ala267Ser, XP_011539116.1:p.Ala276Ser, XP_016855940.1:p.Ala244Ser, XP_016855941.1:p.Ala243Ser, XP_016855942.1:p.Ala276Ser, XP_016855943.1:p.Ala211Ser, NP_001177111.1:p.Ala234Ser, XP_016855944.1:p.Ala64Ser, XP_011539122.1:p.Ala276Ser, XP_047303333.1:p.Ala211Ser, XP_016855945.1:p.Ala64Ser

                              15.

                              rs1468651093 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:45622292 (GRCh38)
                                1:46087964 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:45622291:A:G
                                Gene:
                                CCDC17 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:

                                16.

                                rs1466901130 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:45622659 (GRCh38)
                                  1:46088331 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:45622658:C:A
                                  Gene:
                                  CCDC17 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000001.11:g.45622659C>A, NC_000001.10:g.46088331C>A, NM_001114938.3:c.749G>T, NM_001114938.2:c.749G>T, XM_011540812.2:c.848G>T, XM_011540812.1:c.848G>T, XM_017000450.2:c.821G>T, XM_017000450.1:c.821G>T, XM_011540814.2:c.848G>T, XM_011540814.1:c.848G>T, XM_017000451.2:c.752G>T, XM_017000451.1:c.752G>T, XM_017000452.2:c.749G>T, XM_017000452.1:c.749G>T, XM_017000453.2:c.848G>T, XM_017000453.1:c.848G>T, XM_017000454.2:c.653G>T, XM_017000454.1:c.653G>T, NM_001190182.2:c.722G>T, NM_001190182.1:c.722G>T, XM_017000455.2:c.212G>T, XM_017000455.1:c.212G>T, NM_152500.2:c.212G>T, XM_011540820.2:c.848G>T, XM_011540820.1:c.848G>T, NM_152500.1:c.653G>T, XM_047447377.1:c.653G>T, XM_017000456.1:c.212G>T, NP_001108410.2:p.Arg250Leu, XP_011539114.1:p.Arg283Leu, XP_016855939.1:p.Arg274Leu, XP_011539116.1:p.Arg283Leu, XP_016855940.1:p.Arg251Leu, XP_016855941.1:p.Arg250Leu, XP_016855942.1:p.Arg283Leu, XP_016855943.1:p.Arg218Leu, NP_001177111.1:p.Arg241Leu, XP_016855944.1:p.Arg71Leu, XP_011539122.1:p.Arg283Leu, XP_047303333.1:p.Arg218Leu, XP_016855945.1:p.Arg71Leu

                                  17.

                                  rs1466463224 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:45622318 (GRCh38)
                                    1:46087990 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:45622317:G:A
                                    Gene:
                                    CCDC17 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.45622318G>A, NC_000001.10:g.46087990G>A, NM_001114938.3:c.890C>T, NM_001114938.2:c.890C>T, XM_011540812.2:c.989C>T, XM_011540812.1:c.989C>T, XM_017000450.2:c.962C>T, XM_017000450.1:c.962C>T, XM_011540814.2:c.989C>T, XM_011540814.1:c.989C>T, XM_017000451.2:c.893C>T, XM_017000451.1:c.893C>T, XM_017000452.2:c.890C>T, XM_017000452.1:c.890C>T, XM_017000454.2:c.794C>T, XM_017000454.1:c.794C>T, NM_001190182.2:c.863C>T, NM_001190182.1:c.863C>T, XM_017000455.2:c.353C>T, XM_017000455.1:c.353C>T, NM_152500.2:c.353C>T, XM_011540820.2:c.989C>T, XM_011540820.1:c.989C>T, NM_152500.1:c.794C>T, XM_047447377.1:c.794C>T, XM_017000456.1:c.353C>T, NP_001108410.2:p.Pro297Leu, XP_011539114.1:p.Pro330Leu, XP_016855939.1:p.Pro321Leu, XP_011539116.1:p.Pro330Leu, XP_016855940.1:p.Pro298Leu, XP_016855941.1:p.Pro297Leu, XP_016855943.1:p.Pro265Leu, NP_001177111.1:p.Pro288Leu, XP_016855944.1:p.Pro118Leu, XP_011539122.1:p.Pro330Leu, XP_047303333.1:p.Pro265Leu, XP_016855945.1:p.Pro118Leu

                                    18.

                                    rs1465197931 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:45620972 (GRCh38)
                                      1:46086644 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:45620971:C:T
                                      Gene:
                                      CCDC17 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,stop_gained,downstream_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.45620972C>T, NC_000001.10:g.46086644C>T, NM_001114938.3:c.1530G>A, NM_001114938.2:c.1530G>A, XM_011540812.2:c.1629G>A, XM_011540812.1:c.1629G>A, XM_017000450.2:c.1602G>A, XM_017000450.1:c.1602G>A, XM_011540814.2:c.1629G>A, XM_011540814.1:c.1629G>A, XM_017000451.2:c.1533G>A, XM_017000451.1:c.1533G>A, XM_017000452.2:c.1530G>A, XM_017000452.1:c.1530G>A, XM_017000453.2:c.1521G>A, XM_017000453.1:c.1521G>A, XM_017000454.2:c.1434G>A, XM_017000454.1:c.1434G>A, NM_001190182.2:c.1503G>A, NM_001190182.1:c.1503G>A, XM_017000455.2:c.993G>A, XM_017000455.1:c.993G>A, NM_152500.2:c.993G>A, NM_152500.1:c.1434G>A, XM_047447377.1:c.1434G>A, XM_017000456.1:c.993G>A, NP_001108410.2:p.Trp510Ter, XP_011539114.1:p.Trp543Ter, XP_016855939.1:p.Trp534Ter, XP_011539116.1:p.Trp543Ter, XP_016855940.1:p.Trp511Ter, XP_016855941.1:p.Trp510Ter, XP_016855942.1:p.Trp507Ter, XP_016855943.1:p.Trp478Ter, NP_001177111.1:p.Trp501Ter, XP_016855944.1:p.Trp331Ter, XP_047303333.1:p.Trp478Ter, XP_016855945.1:p.Trp331Ter

                                      19.

                                      rs1461457758 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:45622625 (GRCh38)
                                        1:46088297 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:45622624:G:A
                                        Gene:
                                        CCDC17 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1460482143 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          1:45622979 (GRCh38)
                                          1:46088651 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:45622978:A:G,NC_000001.11:45622978:A:T
                                          Gene:
                                          CCDC17 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.45622979A>G, NC_000001.11:g.45622979A>T, NC_000001.10:g.46088651A>G, NC_000001.10:g.46088651A>T, NM_001114938.3:c.632T>C, NM_001114938.3:c.632T>A, NM_001114938.2:c.632T>C, NM_001114938.2:c.632T>A, XM_011540812.2:c.731T>C, XM_011540812.2:c.731T>A, XM_011540812.1:c.731T>C, XM_011540812.1:c.731T>A, XM_017000450.2:c.704T>C, XM_017000450.2:c.704T>A, XM_017000450.1:c.704T>C, XM_017000450.1:c.704T>A, XM_011540814.2:c.731T>C, XM_011540814.2:c.731T>A, XM_011540814.1:c.731T>C, XM_011540814.1:c.731T>A, XM_017000451.2:c.635T>C, XM_017000451.2:c.635T>A, XM_017000451.1:c.635T>C, XM_017000451.1:c.635T>A, XM_017000452.2:c.632T>C, XM_017000452.2:c.632T>A, XM_017000452.1:c.632T>C, XM_017000452.1:c.632T>A, XM_017000453.2:c.731T>C, XM_017000453.2:c.731T>A, XM_017000453.1:c.731T>C, XM_017000453.1:c.731T>A, XM_017000454.2:c.536T>C, XM_017000454.2:c.536T>A, XM_017000454.1:c.536T>C, XM_017000454.1:c.536T>A, NM_001190182.2:c.605T>C, NM_001190182.2:c.605T>A, NM_001190182.1:c.605T>C, NM_001190182.1:c.605T>A, XM_017000455.2:c.95T>C, XM_017000455.2:c.95T>A, XM_017000455.1:c.95T>C, XM_017000455.1:c.95T>A, NM_152500.2:c.95T>C, NM_152500.2:c.95T>A, XM_011540820.2:c.731T>C, XM_011540820.2:c.731T>A, XM_011540820.1:c.731T>C, XM_011540820.1:c.731T>A, NM_152500.1:c.536T>C, NM_152500.1:c.536T>A, XM_047447377.1:c.536T>C, XM_047447377.1:c.536T>A, XM_017000456.1:c.95T>C, XM_017000456.1:c.95T>A, NP_001108410.2:p.Ile211Thr, NP_001108410.2:p.Ile211Asn, XP_011539114.1:p.Ile244Thr, XP_011539114.1:p.Ile244Asn, XP_016855939.1:p.Ile235Thr, XP_016855939.1:p.Ile235Asn, XP_011539116.1:p.Ile244Thr, XP_011539116.1:p.Ile244Asn, XP_016855940.1:p.Ile212Thr, XP_016855940.1:p.Ile212Asn, XP_016855941.1:p.Ile211Thr, XP_016855941.1:p.Ile211Asn, XP_016855942.1:p.Ile244Thr, XP_016855942.1:p.Ile244Asn, XP_016855943.1:p.Ile179Thr, XP_016855943.1:p.Ile179Asn, NP_001177111.1:p.Ile202Thr, NP_001177111.1:p.Ile202Asn, XP_016855944.1:p.Ile32Thr, XP_016855944.1:p.Ile32Asn, XP_011539122.1:p.Ile244Thr, XP_011539122.1:p.Ile244Asn, XP_047303333.1:p.Ile179Thr, XP_047303333.1:p.Ile179Asn, XP_016855945.1:p.Ile32Thr, XP_016855945.1:p.Ile32Asn

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