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Items: 1 to 20 of 1948

1.

rs1491579427 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    20:25452811 (GRCh38)
    20:25433447 (GRCh37)
    Canonical SPDI:
    NC_000020.11:25452810:CT:
    Gene:
    NINL (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000214/3 (ALFA)
    -=0.000083/22 (TOPMED)
    -=0.000135/16 (GnomAD)
    HGVS:
    NC_000020.11:g.25452811_25452812del, NC_000020.10:g.25433447_25433448del, NM_025176.6:c.*639_*640del, NM_025176.5:c.*639_*640del, NM_025176.4:c.*639_*640del, XM_011529186.3:c.*639_*640del, XM_011529186.2:c.*639_*640del, XM_011529186.1:c.*639_*640del, XM_011529187.3:c.*639_*640del, XM_011529187.2:c.*639_*640del, XM_011529187.1:c.*639_*640del, XM_011529194.3:c.*639_*640del, XM_011529194.2:c.*639_*640del, XM_011529194.1:c.*639_*640del, XM_011529192.3:c.*639_*640del, XM_011529192.2:c.*639_*640del, XM_011529192.1:c.*639_*640del, XM_011529195.3:c.*639_*640del, XM_011529195.2:c.*639_*640del, XM_011529195.1:c.*639_*640del, XM_011529189.2:c.*639_*640del, XM_011529189.1:c.*639_*640del, NM_001318226.2:c.*639_*640del, NM_001318226.1:c.*639_*640del, XM_017027735.2:c.*639_*640del, XM_017027735.1:c.*639_*640del, XM_047440019.1:c.*639_*640del, XM_047440020.1:c.*639_*640del, XM_047440025.1:c.*639_*640del, XM_047440026.1:c.*639_*640del, XM_047440022.1:c.*639_*640del, XM_047440023.1:c.*639_*640del, XM_047440024.1:c.*639_*640del, XM_047440034.1:c.*639_*640del, XM_011529188.1:c.*639_*640del, XM_047440021.1:c.*639_*640del, XM_047440027.1:c.*639_*640del, XM_011529191.1:c.*639_*640del, XM_047440028.1:c.*639_*640del, XM_047440029.1:c.*639_*640del, XM_047440030.1:c.*639_*640del, XM_047440032.1:c.*639_*640del, XM_047440031.1:c.*639_*640del, XM_047440035.1:c.*639_*640del, XM_047440033.1:c.*639_*640del, XM_011529198.1:c.*639_*640del

    2.

    rs1490703957 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      20:25517775 (GRCh38)
      20:25498411 (GRCh37)
      Canonical SPDI:
      NC_000020.11:25517774:TT:
      Gene:
      NINL (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.25517775_25517776del, NC_000020.10:g.25498411_25498412del, NM_025176.6:c.254_255del, NM_025176.5:c.254_255del, NM_025176.4:c.254_255del, XM_011529186.3:c.302_303del, XM_011529186.2:c.302_303del, XM_011529186.1:c.302_303del, XM_011529187.3:c.302_303del, XM_011529187.2:c.302_303del, XM_011529187.1:c.302_303del, XM_011529189.2:c.254_255del, XM_011529189.1:c.254_255del, NM_001318226.2:c.254_255del, NM_001318226.1:c.254_255del, XM_047440019.1:c.275_276del, XM_047440020.1:c.275_276del, XM_047440025.1:c.275_276del, XM_047440026.1:c.275_276del, XM_047440022.1:c.308_309del, XM_047440023.1:c.332_333del, XM_047440024.1:c.302_303del, XM_011529188.1:c.254_255del, XM_047440021.1:c.254_255del, XM_047440027.1:c.254_255del, XM_047440032.1:c.302_303del, XR_007067445.1:n.342_343del, XM_047440033.1:c.254_255del, XR_007067446.1:n.342_343del, NP_079452.3:p.Glu85fs, XP_011527488.1:p.Glu101fs, XP_011527489.1:p.Glu101fs, XP_011527491.1:p.Glu85fs, NP_001305155.1:p.Glu85fs, XP_047295975.1:p.Glu92fs, XP_047295976.1:p.Glu92fs, XP_047295981.1:p.Glu92fs, XP_047295982.1:p.Glu92fs, XP_047295978.1:p.Glu103fs, XP_047295979.1:p.Glu111fs, XP_047295980.1:p.Glu101fs, XP_011527490.1:p.Glu85fs, XP_047295977.1:p.Glu85fs, XP_047295983.1:p.Glu85fs, XP_047295988.1:p.Glu101fs, XP_047295989.1:p.Glu85fs

      3.

      rs1490077264 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:25476525 (GRCh38)
        20:25457161 (GRCh37)
        Canonical SPDI:
        NC_000020.11:25476524:C:T
        Gene:
        NINL (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.00003/1 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.25476525C>T, NC_000020.10:g.25457161C>T, NM_025176.6:c.2766G>A, NM_025176.5:c.2766G>A, NM_025176.4:c.2766G>A, XM_011529186.3:c.3030G>A, XM_011529186.2:c.3030G>A, XM_011529186.1:c.3030G>A, XM_011529187.3:c.3015G>A, XM_011529187.2:c.3015G>A, XM_011529187.1:c.3015G>A, XM_011529194.3:c.1680G>A, XM_011529194.2:c.1680G>A, XM_011529194.1:c.1680G>A, XM_011529192.3:c.1866G>A, XM_011529192.2:c.1866G>A, XM_011529192.1:c.1866G>A, XM_011529195.3:c.1509G>A, XM_011529195.2:c.1509G>A, XM_011529195.1:c.1509G>A, XM_011529189.2:c.2982G>A, XM_011529189.1:c.2982G>A, XM_017027735.2:c.1107G>A, XM_017027735.1:c.1107G>A, XM_047440019.1:c.3003G>A, XM_047440020.1:c.2988G>A, XM_047440025.1:c.2802G>A, XM_047440026.1:c.2787G>A, XM_047440022.1:c.2820G>A, XM_047440023.1:c.2844G>A, XM_047440024.1:c.2814G>A, XM_047440034.1:c.1479G>A, XM_011529188.1:c.2982G>A, XM_047440021.1:c.2967G>A, XM_047440027.1:c.2781G>A, XM_011529191.1:c.2505G>A, XM_047440028.1:c.2490G>A, XM_047440029.1:c.2289G>A, XM_047440030.1:c.2013G>A, XR_007067445.1:n.2854G>A, XM_047440031.1:c.1812G>A, XM_047440035.1:c.1308G>A, XM_011529198.1:c.1053G>A

        4.

        rs1489705071 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->AGAAGAGTGGG
          Chromosome:
          no mapping
          Canonical SPDI:

          5.

          rs1488753992 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:25476734 (GRCh38)
            20:25457370 (GRCh37)
            Canonical SPDI:
            NC_000020.11:25476733:A:G
            Gene:
            NINL (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.25476734A>G, NC_000020.10:g.25457370A>G, NM_025176.6:c.2557T>C, NM_025176.5:c.2557T>C, NM_025176.4:c.2557T>C, XM_011529186.3:c.2821T>C, XM_011529186.2:c.2821T>C, XM_011529186.1:c.2821T>C, XM_011529187.3:c.2806T>C, XM_011529187.2:c.2806T>C, XM_011529187.1:c.2806T>C, XM_011529194.3:c.1471T>C, XM_011529194.2:c.1471T>C, XM_011529194.1:c.1471T>C, XM_011529192.3:c.1657T>C, XM_011529192.2:c.1657T>C, XM_011529192.1:c.1657T>C, XM_011529195.3:c.1300T>C, XM_011529195.2:c.1300T>C, XM_011529195.1:c.1300T>C, XM_011529189.2:c.2773T>C, XM_011529189.1:c.2773T>C, XM_017027735.2:c.898T>C, XM_017027735.1:c.898T>C, XM_047440019.1:c.2794T>C, XM_047440020.1:c.2779T>C, XM_047440025.1:c.2593T>C, XM_047440026.1:c.2578T>C, XM_047440022.1:c.2611T>C, XM_047440023.1:c.2635T>C, XM_047440024.1:c.2605T>C, XM_047440034.1:c.1270T>C, XM_011529188.1:c.2773T>C, XM_047440021.1:c.2758T>C, XM_047440027.1:c.2572T>C, XM_011529191.1:c.2296T>C, XM_047440028.1:c.2281T>C, XM_047440029.1:c.2080T>C, XM_047440030.1:c.1804T>C, XR_007067445.1:n.2645T>C, XM_047440031.1:c.1603T>C, XM_047440035.1:c.1099T>C, XM_011529198.1:c.844T>C, NP_079452.3:p.Cys853Arg, XP_011527488.1:p.Cys941Arg, XP_011527489.1:p.Cys936Arg, XP_011527496.1:p.Cys491Arg, XP_011527494.1:p.Cys553Arg, XP_011527497.1:p.Cys434Arg, XP_011527491.1:p.Cys925Arg, XP_016883224.1:p.Cys300Arg, XP_047295975.1:p.Cys932Arg, XP_047295976.1:p.Cys927Arg, XP_047295981.1:p.Cys865Arg, XP_047295982.1:p.Cys860Arg, XP_047295978.1:p.Cys871Arg, XP_047295979.1:p.Cys879Arg, XP_047295980.1:p.Cys869Arg, XP_047295990.1:p.Cys424Arg, XP_011527490.1:p.Cys925Arg, XP_047295977.1:p.Cys920Arg, XP_047295983.1:p.Cys858Arg, XP_011527493.1:p.Cys766Arg, XP_047295984.1:p.Cys761Arg, XP_047295985.1:p.Cys694Arg, XP_047295986.1:p.Cys602Arg, XP_047295987.1:p.Cys535Arg, XP_047295991.1:p.Cys367Arg, XP_011527500.1:p.Cys282Arg

            6.

            rs1488257619 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:25500912 (GRCh38)
              20:25481548 (GRCh37)
              Canonical SPDI:
              NC_000020.11:25500911:G:A
              Gene:
              NINL (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              NC_000020.11:g.25500912G>A, NC_000020.10:g.25481548G>A, NM_025176.6:c.960C>T, NM_025176.5:c.960C>T, NM_025176.4:c.960C>T, XM_011529186.3:c.1008C>T, XM_011529186.2:c.1008C>T, XM_011529186.1:c.1008C>T, XM_011529187.3:c.1008C>T, XM_011529187.2:c.1008C>T, XM_011529187.1:c.1008C>T, XM_011529189.2:c.960C>T, XM_011529189.1:c.960C>T, NM_001318226.2:c.960C>T, NM_001318226.1:c.960C>T, XM_047440019.1:c.981C>T, XM_047440020.1:c.981C>T, XM_047440025.1:c.981C>T, XM_047440026.1:c.981C>T, XM_047440022.1:c.1014C>T, XM_047440023.1:c.1038C>T, XM_047440024.1:c.1008C>T, XM_011529188.1:c.960C>T, XM_047440021.1:c.960C>T, XM_047440027.1:c.960C>T, XM_011529191.1:c.483C>T, XM_047440028.1:c.483C>T, XM_047440029.1:c.483C>T, XM_047440032.1:c.1008C>T, XR_007067445.1:n.1048C>T, XM_047440033.1:c.960C>T, XR_007067446.1:n.1048C>T

              7.

              rs1488132406 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                20:25479159 (GRCh38)
                20:25459795 (GRCh37)
                Canonical SPDI:
                NC_000020.11:25479158:C:T
                Gene:
                NINL (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                HGVS:
                NC_000020.11:g.25479159C>T, NC_000020.10:g.25459795C>T, NM_025176.6:c.1965G>A, NM_025176.5:c.1965G>A, NM_025176.4:c.1965G>A, XM_011529186.3:c.2028G>A, XM_011529186.2:c.2028G>A, XM_011529186.1:c.2028G>A, XM_011529187.3:c.2013G>A, XM_011529187.2:c.2013G>A, XM_011529187.1:c.2013G>A, XM_011529194.3:c.678G>A, XM_011529194.2:c.678G>A, XM_011529194.1:c.678G>A, XM_011529192.3:c.864G>A, XM_011529192.2:c.864G>A, XM_011529192.1:c.864G>A, XM_011529195.3:c.507G>A, XM_011529195.2:c.507G>A, XM_011529195.1:c.507G>A, XM_011529189.2:c.1980G>A, XM_011529189.1:c.1980G>A, NM_001318226.2:c.1965G>A, NM_001318226.1:c.1965G>A, XM_017027735.2:c.105G>A, XM_017027735.1:c.105G>A, XM_047440019.1:c.2001G>A, XM_047440020.1:c.1986G>A, XM_047440025.1:c.2001G>A, XM_047440026.1:c.1986G>A, XM_047440022.1:c.2019G>A, XM_047440023.1:c.2043G>A, XM_047440024.1:c.2013G>A, XM_047440034.1:c.678G>A, XM_011529188.1:c.1980G>A, XM_047440021.1:c.1965G>A, XM_047440027.1:c.1980G>A, XM_011529191.1:c.1503G>A, XM_047440028.1:c.1488G>A, XM_047440029.1:c.1488G>A, XM_047440030.1:c.1011G>A, XM_047440032.1:c.2013G>A, XR_007067445.1:n.2053G>A, XM_047440031.1:c.1011G>A, XM_047440035.1:c.507G>A, XM_047440033.1:c.1980G>A, XM_011529198.1:c.51G>A, XR_007067446.1:n.2053G>A

                8.

                rs1487116291 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  20:25476926 (GRCh38)
                  20:25457562 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:25476925:G:A,NC_000020.11:25476925:G:T
                  Gene:
                  NINL (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                  HGVS:
                  NC_000020.11:g.25476926G>A, NC_000020.11:g.25476926G>T, NC_000020.10:g.25457562G>A, NC_000020.10:g.25457562G>T, NM_025176.6:c.2365C>T, NM_025176.6:c.2365C>A, NM_025176.5:c.2365C>T, NM_025176.5:c.2365C>A, NM_025176.4:c.2365C>T, NM_025176.4:c.2365C>A, XM_011529186.3:c.2629C>T, XM_011529186.3:c.2629C>A, XM_011529186.2:c.2629C>T, XM_011529186.2:c.2629C>A, XM_011529186.1:c.2629C>T, XM_011529186.1:c.2629C>A, XM_011529187.3:c.2614C>T, XM_011529187.3:c.2614C>A, XM_011529187.2:c.2614C>T, XM_011529187.2:c.2614C>A, XM_011529187.1:c.2614C>T, XM_011529187.1:c.2614C>A, XM_011529194.3:c.1279C>T, XM_011529194.3:c.1279C>A, XM_011529194.2:c.1279C>T, XM_011529194.2:c.1279C>A, XM_011529194.1:c.1279C>T, XM_011529194.1:c.1279C>A, XM_011529192.3:c.1465C>T, XM_011529192.3:c.1465C>A, XM_011529192.2:c.1465C>T, XM_011529192.2:c.1465C>A, XM_011529192.1:c.1465C>T, XM_011529192.1:c.1465C>A, XM_011529195.3:c.1108C>T, XM_011529195.3:c.1108C>A, XM_011529195.2:c.1108C>T, XM_011529195.2:c.1108C>A, XM_011529195.1:c.1108C>T, XM_011529195.1:c.1108C>A, XM_011529189.2:c.2581C>T, XM_011529189.2:c.2581C>A, XM_011529189.1:c.2581C>T, XM_011529189.1:c.2581C>A, XM_017027735.2:c.706C>T, XM_017027735.2:c.706C>A, XM_017027735.1:c.706C>T, XM_017027735.1:c.706C>A, XM_047440019.1:c.2602C>T, XM_047440019.1:c.2602C>A, XM_047440020.1:c.2587C>T, XM_047440020.1:c.2587C>A, XM_047440025.1:c.2401C>T, XM_047440025.1:c.2401C>A, XM_047440026.1:c.2386C>T, XM_047440026.1:c.2386C>A, XM_047440022.1:c.2419C>T, XM_047440022.1:c.2419C>A, XM_047440023.1:c.2443C>T, XM_047440023.1:c.2443C>A, XM_047440024.1:c.2413C>T, XM_047440024.1:c.2413C>A, XM_047440034.1:c.1078C>T, XM_047440034.1:c.1078C>A, XM_011529188.1:c.2581C>T, XM_011529188.1:c.2581C>A, XM_047440021.1:c.2566C>T, XM_047440021.1:c.2566C>A, XM_047440027.1:c.2380C>T, XM_047440027.1:c.2380C>A, XM_011529191.1:c.2104C>T, XM_011529191.1:c.2104C>A, XM_047440028.1:c.2089C>T, XM_047440028.1:c.2089C>A, XM_047440029.1:c.1888C>T, XM_047440029.1:c.1888C>A, XM_047440030.1:c.1612C>T, XM_047440030.1:c.1612C>A, XR_007067445.1:n.2453C>T, XR_007067445.1:n.2453C>A, XM_047440031.1:c.1411C>T, XM_047440031.1:c.1411C>A, XM_047440035.1:c.907C>T, XM_047440035.1:c.907C>A, XM_011529198.1:c.652C>T, XM_011529198.1:c.652C>A, NP_079452.3:p.Pro789Ser, NP_079452.3:p.Pro789Thr, XP_011527488.1:p.Pro877Ser, XP_011527488.1:p.Pro877Thr, XP_011527489.1:p.Pro872Ser, XP_011527489.1:p.Pro872Thr, XP_011527496.1:p.Pro427Ser, XP_011527496.1:p.Pro427Thr, XP_011527494.1:p.Pro489Ser, XP_011527494.1:p.Pro489Thr, XP_011527497.1:p.Pro370Ser, XP_011527497.1:p.Pro370Thr, XP_011527491.1:p.Pro861Ser, XP_011527491.1:p.Pro861Thr, XP_016883224.1:p.Pro236Ser, XP_016883224.1:p.Pro236Thr, XP_047295975.1:p.Pro868Ser, XP_047295975.1:p.Pro868Thr, XP_047295976.1:p.Pro863Ser, XP_047295976.1:p.Pro863Thr, XP_047295981.1:p.Pro801Ser, XP_047295981.1:p.Pro801Thr, XP_047295982.1:p.Pro796Ser, XP_047295982.1:p.Pro796Thr, XP_047295978.1:p.Pro807Ser, XP_047295978.1:p.Pro807Thr, XP_047295979.1:p.Pro815Ser, XP_047295979.1:p.Pro815Thr, XP_047295980.1:p.Pro805Ser, XP_047295980.1:p.Pro805Thr, XP_047295990.1:p.Pro360Ser, XP_047295990.1:p.Pro360Thr, XP_011527490.1:p.Pro861Ser, XP_011527490.1:p.Pro861Thr, XP_047295977.1:p.Pro856Ser, XP_047295977.1:p.Pro856Thr, XP_047295983.1:p.Pro794Ser, XP_047295983.1:p.Pro794Thr, XP_011527493.1:p.Pro702Ser, XP_011527493.1:p.Pro702Thr, XP_047295984.1:p.Pro697Ser, XP_047295984.1:p.Pro697Thr, XP_047295985.1:p.Pro630Ser, XP_047295985.1:p.Pro630Thr, XP_047295986.1:p.Pro538Ser, XP_047295986.1:p.Pro538Thr, XP_047295987.1:p.Pro471Ser, XP_047295987.1:p.Pro471Thr, XP_047295991.1:p.Pro303Ser, XP_047295991.1:p.Pro303Thr, XP_011527500.1:p.Pro218Ser, XP_011527500.1:p.Pro218Thr

                  9.

                  rs1486630257 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    20:25512859 (GRCh38)
                    20:25493495 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:25512858:C:A,NC_000020.11:25512858:C:T
                    Gene:
                    NINL (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000020.11:g.25512859C>A, NC_000020.11:g.25512859C>T, NC_000020.10:g.25493495C>A, NC_000020.10:g.25493495C>T, NM_025176.6:c.425G>T, NM_025176.6:c.425G>A, NM_025176.5:c.425G>T, NM_025176.5:c.425G>A, NM_025176.4:c.425G>T, NM_025176.4:c.425G>A, XM_011529186.3:c.473G>T, XM_011529186.3:c.473G>A, XM_011529186.2:c.473G>T, XM_011529186.2:c.473G>A, XM_011529186.1:c.473G>T, XM_011529186.1:c.473G>A, XM_011529187.3:c.473G>T, XM_011529187.3:c.473G>A, XM_011529187.2:c.473G>T, XM_011529187.2:c.473G>A, XM_011529187.1:c.473G>T, XM_011529187.1:c.473G>A, XM_011529189.2:c.425G>T, XM_011529189.2:c.425G>A, XM_011529189.1:c.425G>T, XM_011529189.1:c.425G>A, NM_001318226.2:c.425G>T, NM_001318226.2:c.425G>A, NM_001318226.1:c.425G>T, NM_001318226.1:c.425G>A, XM_047440019.1:c.446G>T, XM_047440019.1:c.446G>A, XM_047440020.1:c.446G>T, XM_047440020.1:c.446G>A, XM_047440025.1:c.446G>T, XM_047440025.1:c.446G>A, XM_047440026.1:c.446G>T, XM_047440026.1:c.446G>A, XM_047440022.1:c.479G>T, XM_047440022.1:c.479G>A, XM_047440023.1:c.503G>T, XM_047440023.1:c.503G>A, XM_047440024.1:c.473G>T, XM_047440024.1:c.473G>A, XM_011529188.1:c.425G>T, XM_011529188.1:c.425G>A, XM_047440021.1:c.425G>T, XM_047440021.1:c.425G>A, XM_047440027.1:c.425G>T, XM_047440027.1:c.425G>A, XM_047440032.1:c.473G>T, XM_047440032.1:c.473G>A, XR_007067445.1:n.513G>T, XR_007067445.1:n.513G>A, XM_047440033.1:c.425G>T, XM_047440033.1:c.425G>A, XR_007067446.1:n.513G>T, XR_007067446.1:n.513G>A, NP_079452.3:p.Arg142Leu, NP_079452.3:p.Arg142His, XP_011527488.1:p.Arg158Leu, XP_011527488.1:p.Arg158His, XP_011527489.1:p.Arg158Leu, XP_011527489.1:p.Arg158His, XP_011527491.1:p.Arg142Leu, XP_011527491.1:p.Arg142His, NP_001305155.1:p.Arg142Leu, NP_001305155.1:p.Arg142His, XP_047295975.1:p.Arg149Leu, XP_047295975.1:p.Arg149His, XP_047295976.1:p.Arg149Leu, XP_047295976.1:p.Arg149His, XP_047295981.1:p.Arg149Leu, XP_047295981.1:p.Arg149His, XP_047295982.1:p.Arg149Leu, XP_047295982.1:p.Arg149His, XP_047295978.1:p.Arg160Leu, XP_047295978.1:p.Arg160His, XP_047295979.1:p.Arg168Leu, XP_047295979.1:p.Arg168His, XP_047295980.1:p.Arg158Leu, XP_047295980.1:p.Arg158His, XP_011527490.1:p.Arg142Leu, XP_011527490.1:p.Arg142His, XP_047295977.1:p.Arg142Leu, XP_047295977.1:p.Arg142His, XP_047295983.1:p.Arg142Leu, XP_047295983.1:p.Arg142His, XP_047295988.1:p.Arg158Leu, XP_047295988.1:p.Arg158His, XP_047295989.1:p.Arg142Leu, XP_047295989.1:p.Arg142His

                    10.

                    rs1486619373 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      20:25491445 (GRCh38)
                      20:25472081 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:25491444:T:G
                      Gene:
                      NINL (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (GnomAD_exomes)
                      G=0.000023/6 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      NC_000020.11:g.25491445T>G, NC_000020.10:g.25472081T>G, NM_025176.6:c.1391A>C, NM_025176.5:c.1391A>C, NM_025176.4:c.1391A>C, XM_011529186.3:c.1454A>C, XM_011529186.2:c.1454A>C, XM_011529186.1:c.1454A>C, XM_011529187.3:c.1439A>C, XM_011529187.2:c.1439A>C, XM_011529187.1:c.1439A>C, XM_011529194.3:c.104A>C, XM_011529194.2:c.104A>C, XM_011529194.1:c.104A>C, XM_011529192.3:c.290A>C, XM_011529192.2:c.290A>C, XM_011529192.1:c.290A>C, XM_011529189.2:c.1406A>C, XM_011529189.1:c.1406A>C, NM_001318226.2:c.1391A>C, NM_001318226.1:c.1391A>C, XM_047440019.1:c.1427A>C, XM_047440020.1:c.1412A>C, XM_047440025.1:c.1427A>C, XM_047440026.1:c.1412A>C, XM_047440022.1:c.1445A>C, XM_047440023.1:c.1469A>C, XM_047440024.1:c.1439A>C, XM_047440034.1:c.104A>C, XM_011529188.1:c.1406A>C, XM_047440021.1:c.1391A>C, XM_047440027.1:c.1406A>C, XM_011529191.1:c.929A>C, XM_047440028.1:c.914A>C, XM_047440029.1:c.914A>C, XM_047440030.1:c.437A>C, XM_047440032.1:c.1439A>C, XR_007067445.1:n.1479A>C, XM_047440031.1:c.437A>C, XM_047440033.1:c.1406A>C, XR_007067446.1:n.1479A>C, NP_079452.3:p.Gln464Pro, XP_011527488.1:p.Gln485Pro, XP_011527489.1:p.Gln480Pro, XP_011527496.1:p.Gln35Pro, XP_011527494.1:p.Gln97Pro, XP_011527491.1:p.Gln469Pro, NP_001305155.1:p.Gln464Pro, XP_047295975.1:p.Gln476Pro, XP_047295976.1:p.Gln471Pro, XP_047295981.1:p.Gln476Pro, XP_047295982.1:p.Gln471Pro, XP_047295978.1:p.Gln482Pro, XP_047295979.1:p.Gln490Pro, XP_047295980.1:p.Gln480Pro, XP_047295990.1:p.Gln35Pro, XP_011527490.1:p.Gln469Pro, XP_047295977.1:p.Gln464Pro, XP_047295983.1:p.Gln469Pro, XP_011527493.1:p.Gln310Pro, XP_047295984.1:p.Gln305Pro, XP_047295985.1:p.Gln305Pro, XP_047295986.1:p.Gln146Pro, XP_047295988.1:p.Gln480Pro, XP_047295987.1:p.Gln146Pro, XP_047295989.1:p.Gln469Pro

                      11.

                      rs1486024852 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:25512933 (GRCh38)
                        20:25493569 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:25512932:T:C
                        Gene:
                        NINL (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1485839179 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          20:25452928 (GRCh38)
                          20:25433564 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:25452927:G:
                          Gene:
                          NINL (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000020.11:g.25452928del, NC_000020.10:g.25433564del, NM_025176.6:c.*523del, NM_025176.5:c.*523del, NM_025176.4:c.*523del, XM_011529186.3:c.*523del, XM_011529186.2:c.*523del, XM_011529186.1:c.*523del, XM_011529187.3:c.*523del, XM_011529187.2:c.*523del, XM_011529187.1:c.*523del, XM_011529194.3:c.*523del, XM_011529194.2:c.*523del, XM_011529194.1:c.*523del, XM_011529192.3:c.*523del, XM_011529192.2:c.*523del, XM_011529192.1:c.*523del, XM_011529195.3:c.*523del, XM_011529195.2:c.*523del, XM_011529195.1:c.*523del, XM_011529189.2:c.*523del, XM_011529189.1:c.*523del, NM_001318226.2:c.*523del, NM_001318226.1:c.*523del, XM_017027735.2:c.*523del, XM_017027735.1:c.*523del, XM_047440019.1:c.*523del, XM_047440020.1:c.*523del, XM_047440025.1:c.*523del, XM_047440026.1:c.*523del, XM_047440022.1:c.*523del, XM_047440023.1:c.*523del, XM_047440024.1:c.*523del, XM_047440034.1:c.*523del, XM_011529188.1:c.*523del, XM_047440021.1:c.*523del, XM_047440027.1:c.*523del, XM_011529191.1:c.*523del, XM_047440028.1:c.*523del, XM_047440029.1:c.*523del, XM_047440030.1:c.*523del, XM_047440032.1:c.*523del, XM_047440031.1:c.*523del, XM_047440035.1:c.*523del, XM_047440033.1:c.*523del, XM_011529198.1:c.*523del

                          13.

                          rs1485429272 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            20:25479081 (GRCh38)
                            20:25459717 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:25479080:C:G
                            Gene:
                            NINL (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000056/2 (ALFA)
                            G=0.000021/3 (GnomAD)
                            G=0.000023/6 (TOPMED)
                            HGVS:
                            NC_000020.11:g.25479081C>G, NC_000020.10:g.25459717C>G, NM_025176.6:c.2043G>C, NM_025176.5:c.2043G>C, NM_025176.4:c.2043G>C, XM_011529186.3:c.2106G>C, XM_011529186.2:c.2106G>C, XM_011529186.1:c.2106G>C, XM_011529187.3:c.2091G>C, XM_011529187.2:c.2091G>C, XM_011529187.1:c.2091G>C, XM_011529194.3:c.756G>C, XM_011529194.2:c.756G>C, XM_011529194.1:c.756G>C, XM_011529192.3:c.942G>C, XM_011529192.2:c.942G>C, XM_011529192.1:c.942G>C, XM_011529195.3:c.585G>C, XM_011529195.2:c.585G>C, XM_011529195.1:c.585G>C, XM_011529189.2:c.2058G>C, XM_011529189.1:c.2058G>C, NM_001318226.2:c.2043G>C, NM_001318226.1:c.2043G>C, XM_017027735.2:c.183G>C, XM_017027735.1:c.183G>C, XM_047440019.1:c.2079G>C, XM_047440020.1:c.2064G>C, XM_047440025.1:c.2079G>C, XM_047440026.1:c.2064G>C, XM_047440022.1:c.2097G>C, XM_047440023.1:c.2121G>C, XM_047440024.1:c.2091G>C, XM_047440034.1:c.756G>C, XM_011529188.1:c.2058G>C, XM_047440021.1:c.2043G>C, XM_047440027.1:c.2058G>C, XM_011529191.1:c.1581G>C, XM_047440028.1:c.1566G>C, XM_047440029.1:c.1566G>C, XM_047440030.1:c.1089G>C, XM_047440032.1:c.2091G>C, XR_007067445.1:n.2131G>C, XM_047440031.1:c.1089G>C, XM_047440035.1:c.585G>C, XM_047440033.1:c.2058G>C, XM_011529198.1:c.129G>C, XR_007067446.1:n.2131G>C, NP_079452.3:p.Glu681Asp, XP_011527488.1:p.Glu702Asp, XP_011527489.1:p.Glu697Asp, XP_011527496.1:p.Glu252Asp, XP_011527494.1:p.Glu314Asp, XP_011527497.1:p.Glu195Asp, XP_011527491.1:p.Glu686Asp, NP_001305155.1:p.Glu681Asp, XP_016883224.1:p.Glu61Asp, XP_047295975.1:p.Glu693Asp, XP_047295976.1:p.Glu688Asp, XP_047295981.1:p.Glu693Asp, XP_047295982.1:p.Glu688Asp, XP_047295978.1:p.Glu699Asp, XP_047295979.1:p.Glu707Asp, XP_047295980.1:p.Glu697Asp, XP_047295990.1:p.Glu252Asp, XP_011527490.1:p.Glu686Asp, XP_047295977.1:p.Glu681Asp, XP_047295983.1:p.Glu686Asp, XP_011527493.1:p.Glu527Asp, XP_047295984.1:p.Glu522Asp, XP_047295985.1:p.Glu522Asp, XP_047295986.1:p.Glu363Asp, XP_047295988.1:p.Glu697Asp, XP_047295987.1:p.Glu363Asp, XP_047295991.1:p.Glu195Asp, XP_047295989.1:p.Glu686Asp, XP_011527500.1:p.Glu43Asp

                            14.

                            rs1485243152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:25476550 (GRCh38)
                              20:25457186 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:25476549:A:G
                              Gene:
                              NINL (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000020.11:g.25476550A>G, NC_000020.10:g.25457186A>G, NM_025176.6:c.2741T>C, NM_025176.5:c.2741T>C, NM_025176.4:c.2741T>C, XM_011529186.3:c.3005T>C, XM_011529186.2:c.3005T>C, XM_011529186.1:c.3005T>C, XM_011529187.3:c.2990T>C, XM_011529187.2:c.2990T>C, XM_011529187.1:c.2990T>C, XM_011529194.3:c.1655T>C, XM_011529194.2:c.1655T>C, XM_011529194.1:c.1655T>C, XM_011529192.3:c.1841T>C, XM_011529192.2:c.1841T>C, XM_011529192.1:c.1841T>C, XM_011529195.3:c.1484T>C, XM_011529195.2:c.1484T>C, XM_011529195.1:c.1484T>C, XM_011529189.2:c.2957T>C, XM_011529189.1:c.2957T>C, XM_017027735.2:c.1082T>C, XM_017027735.1:c.1082T>C, XM_047440019.1:c.2978T>C, XM_047440020.1:c.2963T>C, XM_047440025.1:c.2777T>C, XM_047440026.1:c.2762T>C, XM_047440022.1:c.2795T>C, XM_047440023.1:c.2819T>C, XM_047440024.1:c.2789T>C, XM_047440034.1:c.1454T>C, XM_011529188.1:c.2957T>C, XM_047440021.1:c.2942T>C, XM_047440027.1:c.2756T>C, XM_011529191.1:c.2480T>C, XM_047440028.1:c.2465T>C, XM_047440029.1:c.2264T>C, XM_047440030.1:c.1988T>C, XR_007067445.1:n.2829T>C, XM_047440031.1:c.1787T>C, XM_047440035.1:c.1283T>C, XM_011529198.1:c.1028T>C, NP_079452.3:p.Val914Ala, XP_011527488.1:p.Val1002Ala, XP_011527489.1:p.Val997Ala, XP_011527496.1:p.Val552Ala, XP_011527494.1:p.Val614Ala, XP_011527497.1:p.Val495Ala, XP_011527491.1:p.Val986Ala, XP_016883224.1:p.Val361Ala, XP_047295975.1:p.Val993Ala, XP_047295976.1:p.Val988Ala, XP_047295981.1:p.Val926Ala, XP_047295982.1:p.Val921Ala, XP_047295978.1:p.Val932Ala, XP_047295979.1:p.Val940Ala, XP_047295980.1:p.Val930Ala, XP_047295990.1:p.Val485Ala, XP_011527490.1:p.Val986Ala, XP_047295977.1:p.Val981Ala, XP_047295983.1:p.Val919Ala, XP_011527493.1:p.Val827Ala, XP_047295984.1:p.Val822Ala, XP_047295985.1:p.Val755Ala, XP_047295986.1:p.Val663Ala, XP_047295987.1:p.Val596Ala, XP_047295991.1:p.Val428Ala, XP_011527500.1:p.Val343Ala

                              15.

                              rs1484982775 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                20:25496723 (GRCh38)
                                20:25477359 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:25496722:A:G,NC_000020.11:25496722:A:T
                                Gene:
                                NINL (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000051/1 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000020.11:g.25496723A>G, NC_000020.11:g.25496723A>T, NC_000020.10:g.25477359A>G, NC_000020.10:g.25477359A>T, NM_025176.6:c.1250T>C, NM_025176.6:c.1250T>A, NM_025176.5:c.1250T>C, NM_025176.5:c.1250T>A, NM_025176.4:c.1250T>C, NM_025176.4:c.1250T>A, XM_011529186.3:c.1313T>C, XM_011529186.3:c.1313T>A, XM_011529186.2:c.1313T>C, XM_011529186.2:c.1313T>A, XM_011529186.1:c.1313T>C, XM_011529186.1:c.1313T>A, XM_011529187.3:c.1298T>C, XM_011529187.3:c.1298T>A, XM_011529187.2:c.1298T>C, XM_011529187.2:c.1298T>A, XM_011529187.1:c.1298T>C, XM_011529187.1:c.1298T>A, XM_011529192.3:c.149T>C, XM_011529192.3:c.149T>A, XM_011529192.2:c.149T>C, XM_011529192.2:c.149T>A, XM_011529192.1:c.149T>C, XM_011529192.1:c.149T>A, XM_011529189.2:c.1265T>C, XM_011529189.2:c.1265T>A, XM_011529189.1:c.1265T>C, XM_011529189.1:c.1265T>A, NM_001318226.2:c.1250T>C, NM_001318226.2:c.1250T>A, NM_001318226.1:c.1250T>C, NM_001318226.1:c.1250T>A, XM_047440019.1:c.1286T>C, XM_047440019.1:c.1286T>A, XM_047440020.1:c.1271T>C, XM_047440020.1:c.1271T>A, XM_047440025.1:c.1286T>C, XM_047440025.1:c.1286T>A, XM_047440026.1:c.1271T>C, XM_047440026.1:c.1271T>A, XM_047440022.1:c.1304T>C, XM_047440022.1:c.1304T>A, XM_047440023.1:c.1328T>C, XM_047440023.1:c.1328T>A, XM_047440024.1:c.1298T>C, XM_047440024.1:c.1298T>A, XM_011529188.1:c.1265T>C, XM_011529188.1:c.1265T>A, XM_047440021.1:c.1250T>C, XM_047440021.1:c.1250T>A, XM_047440027.1:c.1265T>C, XM_047440027.1:c.1265T>A, XM_011529191.1:c.788T>C, XM_011529191.1:c.788T>A, XM_047440028.1:c.773T>C, XM_047440028.1:c.773T>A, XM_047440029.1:c.773T>C, XM_047440029.1:c.773T>A, XM_047440030.1:c.296T>C, XM_047440030.1:c.296T>A, XM_047440032.1:c.1298T>C, XM_047440032.1:c.1298T>A, XR_007067445.1:n.1338T>C, XR_007067445.1:n.1338T>A, XM_047440031.1:c.296T>C, XM_047440031.1:c.296T>A, XM_047440033.1:c.1265T>C, XM_047440033.1:c.1265T>A, XR_007067446.1:n.1338T>C, XR_007067446.1:n.1338T>A, NP_079452.3:p.Phe417Ser, NP_079452.3:p.Phe417Tyr, XP_011527488.1:p.Phe438Ser, XP_011527488.1:p.Phe438Tyr, XP_011527489.1:p.Phe433Ser, XP_011527489.1:p.Phe433Tyr, XP_011527494.1:p.Phe50Ser, XP_011527494.1:p.Phe50Tyr, XP_011527491.1:p.Phe422Ser, XP_011527491.1:p.Phe422Tyr, NP_001305155.1:p.Phe417Ser, NP_001305155.1:p.Phe417Tyr, XP_047295975.1:p.Phe429Ser, XP_047295975.1:p.Phe429Tyr, XP_047295976.1:p.Phe424Ser, XP_047295976.1:p.Phe424Tyr, XP_047295981.1:p.Phe429Ser, XP_047295981.1:p.Phe429Tyr, XP_047295982.1:p.Phe424Ser, XP_047295982.1:p.Phe424Tyr, XP_047295978.1:p.Phe435Ser, XP_047295978.1:p.Phe435Tyr, XP_047295979.1:p.Phe443Ser, XP_047295979.1:p.Phe443Tyr, XP_047295980.1:p.Phe433Ser, XP_047295980.1:p.Phe433Tyr, XP_011527490.1:p.Phe422Ser, XP_011527490.1:p.Phe422Tyr, XP_047295977.1:p.Phe417Ser, XP_047295977.1:p.Phe417Tyr, XP_047295983.1:p.Phe422Ser, XP_047295983.1:p.Phe422Tyr, XP_011527493.1:p.Phe263Ser, XP_011527493.1:p.Phe263Tyr, XP_047295984.1:p.Phe258Ser, XP_047295984.1:p.Phe258Tyr, XP_047295985.1:p.Phe258Ser, XP_047295985.1:p.Phe258Tyr, XP_047295986.1:p.Phe99Ser, XP_047295986.1:p.Phe99Tyr, XP_047295988.1:p.Phe433Ser, XP_047295988.1:p.Phe433Tyr, XP_047295987.1:p.Phe99Ser, XP_047295987.1:p.Phe99Tyr, XP_047295989.1:p.Phe422Ser, XP_047295989.1:p.Phe422Tyr

                                16.

                                rs1484877518 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:25585491 (GRCh38)
                                  20:25566127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:25585490:A:G
                                  Gene:
                                  NINL (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1484510363 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    20:25453489 (GRCh38)
                                    20:25434125 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:25453488:G:C
                                    Gene:
                                    NINL (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.25453489G>C, NC_000020.10:g.25434125G>C, NM_025176.6:c.4111C>G, NM_025176.5:c.4111C>G, NM_025176.4:c.4111C>G, XM_011529186.3:c.4375C>G, XM_011529186.2:c.4375C>G, XM_011529186.1:c.4375C>G, XM_011529187.3:c.4360C>G, XM_011529187.2:c.4360C>G, XM_011529187.1:c.4360C>G, XM_011529194.3:c.3025C>G, XM_011529194.2:c.3025C>G, XM_011529194.1:c.3025C>G, XM_011529192.3:c.3211C>G, XM_011529192.2:c.3211C>G, XM_011529192.1:c.3211C>G, XM_011529195.3:c.2854C>G, XM_011529195.2:c.2854C>G, XM_011529195.1:c.2854C>G, XM_011529189.2:c.4327C>G, XM_011529189.1:c.4327C>G, NM_001318226.2:c.3064C>G, NM_001318226.1:c.3064C>G, XM_017027735.2:c.2452C>G, XM_017027735.1:c.2452C>G, XM_047440019.1:c.4348C>G, XM_047440020.1:c.4333C>G, XM_047440025.1:c.4147C>G, XM_047440026.1:c.4132C>G, XM_047440022.1:c.4165C>G, XM_047440023.1:c.4189C>G, XM_047440024.1:c.4159C>G, XM_047440034.1:c.2824C>G, XM_011529188.1:c.4327C>G, XM_047440021.1:c.4312C>G, XM_047440027.1:c.4126C>G, XM_011529191.1:c.3850C>G, XM_047440028.1:c.3835C>G, XM_047440029.1:c.3634C>G, XM_047440030.1:c.3358C>G, XM_047440032.1:c.3112C>G, XM_047440031.1:c.3157C>G, XM_047440035.1:c.2653C>G, XM_047440033.1:c.3079C>G, XM_011529198.1:c.2398C>G, NP_079452.3:p.Leu1371Val, XP_011527488.1:p.Leu1459Val, XP_011527489.1:p.Leu1454Val, XP_011527496.1:p.Leu1009Val, XP_011527494.1:p.Leu1071Val, XP_011527497.1:p.Leu952Val, XP_011527491.1:p.Leu1443Val, NP_001305155.1:p.Leu1022Val, XP_016883224.1:p.Leu818Val, XP_047295975.1:p.Leu1450Val, XP_047295976.1:p.Leu1445Val, XP_047295981.1:p.Leu1383Val, XP_047295982.1:p.Leu1378Val, XP_047295978.1:p.Leu1389Val, XP_047295979.1:p.Leu1397Val, XP_047295980.1:p.Leu1387Val, XP_047295990.1:p.Leu942Val, XP_011527490.1:p.Leu1443Val, XP_047295977.1:p.Leu1438Val, XP_047295983.1:p.Leu1376Val, XP_011527493.1:p.Leu1284Val, XP_047295984.1:p.Leu1279Val, XP_047295985.1:p.Leu1212Val, XP_047295986.1:p.Leu1120Val, XP_047295988.1:p.Leu1038Val, XP_047295987.1:p.Leu1053Val, XP_047295991.1:p.Leu885Val, XP_047295989.1:p.Leu1027Val, XP_011527500.1:p.Leu800Val

                                    18.

                                    rs1484418334 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:25453537 (GRCh38)
                                      20:25434173 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:25453536:C:T
                                      Gene:
                                      NINL (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.25453537C>T, NC_000020.10:g.25434173C>T, NM_025176.6:c.4063G>A, NM_025176.5:c.4063G>A, NM_025176.4:c.4063G>A, XM_011529186.3:c.4327G>A, XM_011529186.2:c.4327G>A, XM_011529186.1:c.4327G>A, XM_011529187.3:c.4312G>A, XM_011529187.2:c.4312G>A, XM_011529187.1:c.4312G>A, XM_011529194.3:c.2977G>A, XM_011529194.2:c.2977G>A, XM_011529194.1:c.2977G>A, XM_011529192.3:c.3163G>A, XM_011529192.2:c.3163G>A, XM_011529192.1:c.3163G>A, XM_011529195.3:c.2806G>A, XM_011529195.2:c.2806G>A, XM_011529195.1:c.2806G>A, XM_011529189.2:c.4279G>A, XM_011529189.1:c.4279G>A, NM_001318226.2:c.3016G>A, NM_001318226.1:c.3016G>A, XM_017027735.2:c.2404G>A, XM_017027735.1:c.2404G>A, XM_047440019.1:c.4300G>A, XM_047440020.1:c.4285G>A, XM_047440025.1:c.4099G>A, XM_047440026.1:c.4084G>A, XM_047440022.1:c.4117G>A, XM_047440023.1:c.4141G>A, XM_047440024.1:c.4111G>A, XM_047440034.1:c.2776G>A, XM_011529188.1:c.4279G>A, XM_047440021.1:c.4264G>A, XM_047440027.1:c.4078G>A, XM_011529191.1:c.3802G>A, XM_047440028.1:c.3787G>A, XM_047440029.1:c.3586G>A, XM_047440030.1:c.3310G>A, XM_047440032.1:c.3064G>A, XM_047440031.1:c.3109G>A, XM_047440035.1:c.2605G>A, XM_047440033.1:c.3031G>A, XM_011529198.1:c.2350G>A, NP_079452.3:p.Glu1355Lys, XP_011527488.1:p.Glu1443Lys, XP_011527489.1:p.Glu1438Lys, XP_011527496.1:p.Glu993Lys, XP_011527494.1:p.Glu1055Lys, XP_011527497.1:p.Glu936Lys, XP_011527491.1:p.Glu1427Lys, NP_001305155.1:p.Glu1006Lys, XP_016883224.1:p.Glu802Lys, XP_047295975.1:p.Glu1434Lys, XP_047295976.1:p.Glu1429Lys, XP_047295981.1:p.Glu1367Lys, XP_047295982.1:p.Glu1362Lys, XP_047295978.1:p.Glu1373Lys, XP_047295979.1:p.Glu1381Lys, XP_047295980.1:p.Glu1371Lys, XP_047295990.1:p.Glu926Lys, XP_011527490.1:p.Glu1427Lys, XP_047295977.1:p.Glu1422Lys, XP_047295983.1:p.Glu1360Lys, XP_011527493.1:p.Glu1268Lys, XP_047295984.1:p.Glu1263Lys, XP_047295985.1:p.Glu1196Lys, XP_047295986.1:p.Glu1104Lys, XP_047295988.1:p.Glu1022Lys, XP_047295987.1:p.Glu1037Lys, XP_047295991.1:p.Glu869Lys, XP_047295989.1:p.Glu1011Lys, XP_011527500.1:p.Glu784Lys

                                      19.

                                      rs1483691072 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:25455723 (GRCh38)
                                        20:25436359 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:25455722:T:C
                                        Gene:
                                        NINL (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000020.11:g.25455723T>C, NC_000020.10:g.25436359T>C, NM_025176.6:c.3907A>G, NM_025176.5:c.3907A>G, NM_025176.4:c.3907A>G, XM_011529186.3:c.4171A>G, XM_011529186.2:c.4171A>G, XM_011529186.1:c.4171A>G, XM_011529187.3:c.4156A>G, XM_011529187.2:c.4156A>G, XM_011529187.1:c.4156A>G, XM_011529194.3:c.2821A>G, XM_011529194.2:c.2821A>G, XM_011529194.1:c.2821A>G, XM_011529192.3:c.3007A>G, XM_011529192.2:c.3007A>G, XM_011529192.1:c.3007A>G, XM_011529195.3:c.2650A>G, XM_011529195.2:c.2650A>G, XM_011529195.1:c.2650A>G, XM_011529189.2:c.4123A>G, XM_011529189.1:c.4123A>G, NM_001318226.2:c.2860A>G, NM_001318226.1:c.2860A>G, XM_017027735.2:c.2248A>G, XM_017027735.1:c.2248A>G, XM_047440019.1:c.4144A>G, XM_047440020.1:c.4129A>G, XM_047440025.1:c.3943A>G, XM_047440026.1:c.3928A>G, XM_047440022.1:c.3961A>G, XM_047440023.1:c.3985A>G, XM_047440024.1:c.3955A>G, XM_047440034.1:c.2620A>G, XM_011529188.1:c.4123A>G, XM_047440021.1:c.4108A>G, XM_047440027.1:c.3922A>G, XM_011529191.1:c.3646A>G, XM_047440028.1:c.3631A>G, XM_047440029.1:c.3430A>G, XM_047440030.1:c.3154A>G, XM_047440032.1:c.2908A>G, XM_047440031.1:c.2953A>G, XM_047440035.1:c.2449A>G, XM_047440033.1:c.2875A>G, XM_011529198.1:c.2194A>G, NP_079452.3:p.Lys1303Glu, XP_011527488.1:p.Lys1391Glu, XP_011527489.1:p.Lys1386Glu, XP_011527496.1:p.Lys941Glu, XP_011527494.1:p.Lys1003Glu, XP_011527497.1:p.Lys884Glu, XP_011527491.1:p.Lys1375Glu, NP_001305155.1:p.Lys954Glu, XP_016883224.1:p.Lys750Glu, XP_047295975.1:p.Lys1382Glu, XP_047295976.1:p.Lys1377Glu, XP_047295981.1:p.Lys1315Glu, XP_047295982.1:p.Lys1310Glu, XP_047295978.1:p.Lys1321Glu, XP_047295979.1:p.Lys1329Glu, XP_047295980.1:p.Lys1319Glu, XP_047295990.1:p.Lys874Glu, XP_011527490.1:p.Lys1375Glu, XP_047295977.1:p.Lys1370Glu, XP_047295983.1:p.Lys1308Glu, XP_011527493.1:p.Lys1216Glu, XP_047295984.1:p.Lys1211Glu, XP_047295985.1:p.Lys1144Glu, XP_047295986.1:p.Lys1052Glu, XP_047295988.1:p.Lys970Glu, XP_047295987.1:p.Lys985Glu, XP_047295991.1:p.Lys817Glu, XP_047295989.1:p.Lys959Glu, XP_011527500.1:p.Lys732Glu

                                        20.

                                        rs1483627198 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          20:25476167 (GRCh38)
                                          20:25456803 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:25476166:G:C
                                          Gene:
                                          NINL (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000020.11:g.25476167G>C, NC_000020.10:g.25456803G>C, NM_025176.6:c.3124C>G, NM_025176.5:c.3124C>G, NM_025176.4:c.3124C>G, XM_011529186.3:c.3388C>G, XM_011529186.2:c.3388C>G, XM_011529186.1:c.3388C>G, XM_011529187.3:c.3373C>G, XM_011529187.2:c.3373C>G, XM_011529187.1:c.3373C>G, XM_011529194.3:c.2038C>G, XM_011529194.2:c.2038C>G, XM_011529194.1:c.2038C>G, XM_011529192.3:c.2224C>G, XM_011529192.2:c.2224C>G, XM_011529192.1:c.2224C>G, XM_011529195.3:c.1867C>G, XM_011529195.2:c.1867C>G, XM_011529195.1:c.1867C>G, XM_011529189.2:c.3340C>G, XM_011529189.1:c.3340C>G, XM_017027735.2:c.1465C>G, XM_017027735.1:c.1465C>G, XM_047440019.1:c.3361C>G, XM_047440020.1:c.3346C>G, XM_047440025.1:c.3160C>G, XM_047440026.1:c.3145C>G, XM_047440022.1:c.3178C>G, XM_047440023.1:c.3202C>G, XM_047440024.1:c.3172C>G, XM_047440034.1:c.1837C>G, XM_011529188.1:c.3340C>G, XM_047440021.1:c.3325C>G, XM_047440027.1:c.3139C>G, XM_011529191.1:c.2863C>G, XM_047440028.1:c.2848C>G, XM_047440029.1:c.2647C>G, XM_047440030.1:c.2371C>G, XR_007067445.1:n.3212C>G, XM_047440031.1:c.2170C>G, XM_047440035.1:c.1666C>G, XM_011529198.1:c.1411C>G, NP_079452.3:p.Pro1042Ala, XP_011527488.1:p.Pro1130Ala, XP_011527489.1:p.Pro1125Ala, XP_011527496.1:p.Pro680Ala, XP_011527494.1:p.Pro742Ala, XP_011527497.1:p.Pro623Ala, XP_011527491.1:p.Pro1114Ala, XP_016883224.1:p.Pro489Ala, XP_047295975.1:p.Pro1121Ala, XP_047295976.1:p.Pro1116Ala, XP_047295981.1:p.Pro1054Ala, XP_047295982.1:p.Pro1049Ala, XP_047295978.1:p.Pro1060Ala, XP_047295979.1:p.Pro1068Ala, XP_047295980.1:p.Pro1058Ala, XP_047295990.1:p.Pro613Ala, XP_011527490.1:p.Pro1114Ala, XP_047295977.1:p.Pro1109Ala, XP_047295983.1:p.Pro1047Ala, XP_011527493.1:p.Pro955Ala, XP_047295984.1:p.Pro950Ala, XP_047295985.1:p.Pro883Ala, XP_047295986.1:p.Pro791Ala, XP_047295987.1:p.Pro724Ala, XP_047295991.1:p.Pro556Ala, XP_011527500.1:p.Pro471Ala

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