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Links from Protein

Items: 1 to 20 of 428

1.

rs1485454777 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:94003855 (GRCh38)
    3:93722699 (GRCh37)
    Canonical SPDI:
    NC_000003.12:94003854:G:A
    Gene:
    ARL13B (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1485110677 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      3:94003731 (GRCh38)
      3:93722575 (GRCh37)
      Canonical SPDI:
      NC_000003.12:94003730:C:A
      Gene:
      ARL13B (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.94003731C>A, NC_000003.11:g.93722575C>A, NG_017076.1:g.28593C>A, NM_182896.3:c.203C>A, NM_182896.2:c.203C>A, NM_001321328.2:c.158C>A, NM_001321328.1:c.158C>A, NM_001174150.2:c.203C>A, NM_001174150.1:c.203C>A, NM_001174151.2:c.-107C>A, NM_001174151.1:c.-107C>A, XM_006713532.4:c.158C>A, XM_006713532.3:c.158C>A, XM_006713532.2:c.158C>A, XM_006713532.1:c.158C>A, XM_011512533.3:c.167C>A, XM_011512533.2:c.167C>A, XM_011512533.1:c.167C>A, XM_011512532.3:c.167C>A, XM_011512532.2:c.167C>A, XM_011512532.1:c.167C>A, XM_011512535.3:c.128C>A, XM_011512535.2:c.128C>A, XM_011512535.1:c.128C>A, XM_017005853.2:c.-107C>A, XM_017005853.1:c.-107C>A, XM_047447660.1:c.203C>A, NM_001410782.1:c.203C>A, NP_878899.1:p.Thr68Asn, NP_001308257.1:p.Thr53Asn, NP_001167621.1:p.Thr68Asn, XP_006713595.1:p.Thr53Asn, XP_011510835.1:p.Thr56Asn, XP_011510834.1:p.Thr56Asn, XP_011510837.1:p.Thr43Asn, XP_047303616.1:p.Thr68Asn

      3.

      rs1484719453 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        3:94053251 (GRCh38)
        3:93772095 (GRCh37)
        Canonical SPDI:
        NC_000003.12:94053250:T:G
        Gene:
        ARL13B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.94053251T>G, NC_000003.11:g.93772095T>G, NG_017076.1:g.78113T>G, NM_144996.4:c.954T>G, NM_144996.3:c.954T>G, NM_182896.3:c.1275T>G, NM_182896.2:c.1275T>G, NM_001321328.2:c.1230T>G, NM_001321328.1:c.1230T>G, NM_001174150.2:c.1275T>G, NM_001174150.1:c.1275T>G, NM_001174151.2:c.966T>G, NM_001174151.1:c.966T>G, NR_033427.2:n.1299T>G, NR_033427.1:n.1315T>G, NR_135621.2:n.1290T>G, NR_135621.1:n.1306T>G, XM_006713532.4:c.1230T>G, XM_006713532.3:c.1230T>G, XM_006713532.2:c.1230T>G, XM_006713532.1:c.1230T>G, XM_011512533.3:c.1239T>G, XM_011512533.2:c.1239T>G, XM_011512533.1:c.1239T>G, XM_011512532.3:c.1239T>G, XM_011512532.2:c.1239T>G, XM_011512532.1:c.1239T>G, XM_011512535.3:c.1200T>G, XM_011512535.2:c.1200T>G, XM_011512535.1:c.1200T>G, XM_017005853.2:c.966T>G, XM_017005853.1:c.966T>G, XM_047447660.1:c.1206T>G, NM_001410782.1:c.1206T>G, XM_047447661.1:c.885T>G, NP_659433.2:p.Asp318Glu, NP_878899.1:p.Asp425Glu, NP_001308257.1:p.Asp410Glu, NP_001167621.1:p.Asp425Glu, NP_001167622.1:p.Asp322Glu, XP_006713595.1:p.Asp410Glu, XP_011510835.1:p.Asp413Glu, XP_011510834.1:p.Asp413Glu, XP_011510837.1:p.Asp400Glu, XP_016861342.1:p.Asp322Glu, XP_047303616.1:p.Asp402Glu, XP_047303617.1:p.Asp295Glu

        4.

        rs1483784253 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:94035407 (GRCh38)
          3:93754251 (GRCh37)
          Canonical SPDI:
          NC_000003.12:94035406:G:A
          Gene:
          ARL13B (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          HGVS:
          NC_000003.12:g.94035407G>A, NC_000003.11:g.93754251G>A, NG_017076.1:g.60269G>A, NM_144996.4:c.136G>A, NM_144996.3:c.136G>A, NM_182896.3:c.457G>A, NM_182896.2:c.457G>A, NM_001321328.2:c.412G>A, NM_001321328.1:c.412G>A, NM_001174150.2:c.457G>A, NM_001174150.1:c.457G>A, NM_001174151.2:c.148G>A, NM_001174151.1:c.148G>A, NR_033427.2:n.476G>A, NR_033427.1:n.492G>A, NR_135621.2:n.472G>A, NR_135621.1:n.488G>A, XM_006713532.4:c.412G>A, XM_006713532.3:c.412G>A, XM_006713532.2:c.412G>A, XM_006713532.1:c.412G>A, XM_011512533.3:c.421G>A, XM_011512533.2:c.421G>A, XM_011512533.1:c.421G>A, XM_011512532.3:c.421G>A, XM_011512532.2:c.421G>A, XM_011512532.1:c.421G>A, XM_011512535.3:c.382G>A, XM_011512535.2:c.382G>A, XM_011512535.1:c.382G>A, XM_017005853.2:c.148G>A, XM_017005853.1:c.148G>A, XM_047447660.1:c.457G>A, NM_001410782.1:c.457G>A, XM_047447661.1:c.136G>A, NP_659433.2:p.Val46Ile, NP_878899.1:p.Val153Ile, NP_001308257.1:p.Val138Ile, NP_001167621.1:p.Val153Ile, NP_001167622.1:p.Val50Ile, XP_006713595.1:p.Val138Ile, XP_011510835.1:p.Val141Ile, XP_011510834.1:p.Val141Ile, XP_011510837.1:p.Val128Ile, XP_016861342.1:p.Val50Ile, XP_047303616.1:p.Val153Ile, XP_047303617.1:p.Val46Ile

          5.

          rs1483508428 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            3:94050875 (GRCh38)
            3:93769719 (GRCh37)
            Canonical SPDI:
            NC_000003.12:94050874:G:T
            Gene:
            ARL13B (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000142/2 (ALFA)
            T=0.000011/3 (TOPMED)
            HGVS:
            NC_000003.12:g.94050875G>T, NC_000003.11:g.93769719G>T, NG_017076.1:g.75737G>T, NM_144996.4:c.872G>T, NM_144996.3:c.872G>T, NM_182896.3:c.1193G>T, NM_182896.2:c.1193G>T, NM_001321328.2:c.1148G>T, NM_001321328.1:c.1148G>T, NM_001174150.2:c.1193G>T, NM_001174150.1:c.1193G>T, NM_001174151.2:c.884G>T, NM_001174151.1:c.884G>T, NR_033427.2:n.1217G>T, NR_033427.1:n.1233G>T, NR_135621.2:n.1208G>T, NR_135621.1:n.1224G>T, XM_006713532.4:c.1148G>T, XM_006713532.3:c.1148G>T, XM_006713532.2:c.1148G>T, XM_006713532.1:c.1148G>T, XM_011512533.3:c.1157G>T, XM_011512533.2:c.1157G>T, XM_011512533.1:c.1157G>T, XM_011512532.3:c.1157G>T, XM_011512532.2:c.1157G>T, XM_011512532.1:c.1157G>T, XM_011512535.3:c.1118G>T, XM_011512535.2:c.1118G>T, XM_011512535.1:c.1118G>T, XM_017005853.2:c.884G>T, XM_017005853.1:c.884G>T, NP_659433.2:p.Gly291Val, NP_878899.1:p.Gly398Val, NP_001308257.1:p.Gly383Val, NP_001167621.1:p.Gly398Val, NP_001167622.1:p.Gly295Val, XP_006713595.1:p.Gly383Val, XP_011510835.1:p.Gly386Val, XP_011510834.1:p.Gly386Val, XP_011510837.1:p.Gly373Val, XP_016861342.1:p.Gly295Val

            6.

            rs1481975288 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:94043126 (GRCh38)
              3:93761970 (GRCh37)
              Canonical SPDI:
              NC_000003.12:94043125:G:A
              Gene:
              ARL13B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              A=0.000425/7 (TOMMO)
              A=0.000684/2 (KOREAN)
              HGVS:
              NC_000003.12:g.94043126G>A, NC_000003.11:g.93761970G>A, NG_017076.1:g.67988G>A, NM_144996.4:c.589G>A, NM_144996.3:c.589G>A, NM_182896.3:c.910G>A, NM_182896.2:c.910G>A, NM_001321328.2:c.865G>A, NM_001321328.1:c.865G>A, NM_001174150.2:c.910G>A, NM_001174150.1:c.910G>A, NM_001174151.2:c.601G>A, NM_001174151.1:c.601G>A, NR_033427.2:n.934G>A, NR_033427.1:n.950G>A, NR_135621.2:n.925G>A, NR_135621.1:n.941G>A, XM_006713532.4:c.865G>A, XM_006713532.3:c.865G>A, XM_006713532.2:c.865G>A, XM_006713532.1:c.865G>A, XM_011512533.3:c.874G>A, XM_011512533.2:c.874G>A, XM_011512533.1:c.874G>A, XM_011512532.3:c.874G>A, XM_011512532.2:c.874G>A, XM_011512532.1:c.874G>A, XM_011512535.3:c.835G>A, XM_011512535.2:c.835G>A, XM_011512535.1:c.835G>A, XM_017005853.2:c.601G>A, XM_017005853.1:c.601G>A, XM_047447660.1:c.910G>A, NM_001410782.1:c.910G>A, XM_047447661.1:c.589G>A, NP_659433.2:p.Val197Ile, NP_878899.1:p.Val304Ile, NP_001308257.1:p.Val289Ile, NP_001167621.1:p.Val304Ile, NP_001167622.1:p.Val201Ile, XP_006713595.1:p.Val289Ile, XP_011510835.1:p.Val292Ile, XP_011510834.1:p.Val292Ile, XP_011510837.1:p.Val279Ile, XP_016861342.1:p.Val201Ile, XP_047303616.1:p.Val304Ile, XP_047303617.1:p.Val197Ile

              7.

              rs1481744412 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                3:94003734 (GRCh38)
                3:93722578 (GRCh37)
                Canonical SPDI:
                NC_000003.12:94003733:T:A
                Gene:
                ARL13B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.94003734T>A, NC_000003.11:g.93722578T>A, NG_017076.1:g.28596T>A, NM_182896.3:c.206T>A, NM_182896.2:c.206T>A, NM_001321328.2:c.161T>A, NM_001321328.1:c.161T>A, NM_001174150.2:c.206T>A, NM_001174150.1:c.206T>A, NM_001174151.2:c.-104T>A, NM_001174151.1:c.-104T>A, XM_006713532.4:c.161T>A, XM_006713532.3:c.161T>A, XM_006713532.2:c.161T>A, XM_006713532.1:c.161T>A, XM_011512533.3:c.170T>A, XM_011512533.2:c.170T>A, XM_011512533.1:c.170T>A, XM_011512532.3:c.170T>A, XM_011512532.2:c.170T>A, XM_011512532.1:c.170T>A, XM_011512535.3:c.131T>A, XM_011512535.2:c.131T>A, XM_011512535.1:c.131T>A, XM_017005853.2:c.-104T>A, XM_017005853.1:c.-104T>A, XM_047447660.1:c.206T>A, NM_001410782.1:c.206T>A, NP_878899.1:p.Ile69Asn, NP_001308257.1:p.Ile54Asn, NP_001167621.1:p.Ile69Asn, XP_006713595.1:p.Ile54Asn, XP_011510835.1:p.Ile57Asn, XP_011510834.1:p.Ile57Asn, XP_011510837.1:p.Ile44Asn, XP_047303616.1:p.Ile69Asn

                8.

                rs1478163991 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:94036730 (GRCh38)
                  3:93755574 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:94036729:G:A
                  Gene:
                  ARL13B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.94036730G>A, NC_000003.11:g.93755574G>A, NG_017076.1:g.61592G>A, NM_144996.4:c.344G>A, NM_144996.3:c.344G>A, NM_182896.3:c.665G>A, NM_182896.2:c.665G>A, NM_001321328.2:c.620G>A, NM_001321328.1:c.620G>A, NM_001174150.2:c.665G>A, NM_001174150.1:c.665G>A, NM_001174151.2:c.356G>A, NM_001174151.1:c.356G>A, NR_033427.2:n.689G>A, NR_033427.1:n.705G>A, NR_135621.2:n.680G>A, NR_135621.1:n.696G>A, XM_006713532.4:c.620G>A, XM_006713532.3:c.620G>A, XM_006713532.2:c.620G>A, XM_006713532.1:c.620G>A, XM_011512533.3:c.629G>A, XM_011512533.2:c.629G>A, XM_011512533.1:c.629G>A, XM_011512532.3:c.629G>A, XM_011512532.2:c.629G>A, XM_011512532.1:c.629G>A, XM_011512535.3:c.590G>A, XM_011512535.2:c.590G>A, XM_011512535.1:c.590G>A, XM_017005853.2:c.356G>A, XM_017005853.1:c.356G>A, XM_047447660.1:c.665G>A, NM_001410782.1:c.665G>A, XM_047447661.1:c.344G>A, NP_659433.2:p.Arg115Gln, NP_878899.1:p.Arg222Gln, NP_001308257.1:p.Arg207Gln, NP_001167621.1:p.Arg222Gln, NP_001167622.1:p.Arg119Gln, XP_006713595.1:p.Arg207Gln, XP_011510835.1:p.Arg210Gln, XP_011510834.1:p.Arg210Gln, XP_011510837.1:p.Arg197Gln, XP_016861342.1:p.Arg119Gln, XP_047303616.1:p.Arg222Gln, XP_047303617.1:p.Arg115Gln

                  9.

                  rs1474936663 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:94050846 (GRCh38)
                    3:93769690 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:94050845:C:T
                    Gene:
                    ARL13B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000003.12:g.94050846C>T, NC_000003.11:g.93769690C>T, NG_017076.1:g.75708C>T, NM_144996.4:c.843C>T, NM_144996.3:c.843C>T, NM_182896.3:c.1164C>T, NM_182896.2:c.1164C>T, NM_001321328.2:c.1119C>T, NM_001321328.1:c.1119C>T, NM_001174150.2:c.1164C>T, NM_001174150.1:c.1164C>T, NM_001174151.2:c.855C>T, NM_001174151.1:c.855C>T, NR_033427.2:n.1188C>T, NR_033427.1:n.1204C>T, NR_135621.2:n.1179C>T, NR_135621.1:n.1195C>T, XM_006713532.4:c.1119C>T, XM_006713532.3:c.1119C>T, XM_006713532.2:c.1119C>T, XM_006713532.1:c.1119C>T, XM_011512533.3:c.1128C>T, XM_011512533.2:c.1128C>T, XM_011512533.1:c.1128C>T, XM_011512532.3:c.1128C>T, XM_011512532.2:c.1128C>T, XM_011512532.1:c.1128C>T, XM_011512535.3:c.1089C>T, XM_011512535.2:c.1089C>T, XM_011512535.1:c.1089C>T, XM_017005853.2:c.855C>T, XM_017005853.1:c.855C>T

                    10.

                    rs1467247795 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:94035420 (GRCh38)
                      3:93754264 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:94035419:A:G
                      Gene:
                      ARL13B (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000003.12:g.94035420A>G, NC_000003.11:g.93754264A>G, NG_017076.1:g.60282A>G, NM_144996.4:c.149A>G, NM_144996.3:c.149A>G, NM_182896.3:c.470A>G, NM_182896.2:c.470A>G, NM_001321328.2:c.425A>G, NM_001321328.1:c.425A>G, NM_001174150.2:c.470A>G, NM_001174150.1:c.470A>G, NM_001174151.2:c.161A>G, NM_001174151.1:c.161A>G, NR_033427.2:n.489A>G, NR_033427.1:n.505A>G, NR_135621.2:n.485A>G, NR_135621.1:n.501A>G, XM_006713532.4:c.425A>G, XM_006713532.3:c.425A>G, XM_006713532.2:c.425A>G, XM_006713532.1:c.425A>G, XM_011512533.3:c.434A>G, XM_011512533.2:c.434A>G, XM_011512533.1:c.434A>G, XM_011512532.3:c.434A>G, XM_011512532.2:c.434A>G, XM_011512532.1:c.434A>G, XM_011512535.3:c.395A>G, XM_011512535.2:c.395A>G, XM_011512535.1:c.395A>G, XM_017005853.2:c.161A>G, XM_017005853.1:c.161A>G, XM_047447660.1:c.470A>G, NM_001410782.1:c.470A>G, XM_047447661.1:c.149A>G, NP_659433.2:p.Lys50Arg, NP_878899.1:p.Lys157Arg, NP_001308257.1:p.Lys142Arg, NP_001167621.1:p.Lys157Arg, NP_001167622.1:p.Lys54Arg, XP_006713595.1:p.Lys142Arg, XP_011510835.1:p.Lys145Arg, XP_011510834.1:p.Lys145Arg, XP_011510837.1:p.Lys132Arg, XP_016861342.1:p.Lys54Arg, XP_047303616.1:p.Lys157Arg, XP_047303617.1:p.Lys50Arg

                      11.

                      rs1466606984 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:94049475 (GRCh38)
                        3:93768319 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:94049474:A:G
                        Gene:
                        ARL13B (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000003.12:g.94049475A>G, NC_000003.11:g.93768319A>G, NG_017076.1:g.74337A>G, NM_144996.4:c.773A>G, NM_144996.3:c.773A>G, NM_182896.3:c.1094A>G, NM_182896.2:c.1094A>G, NM_001321328.2:c.1049A>G, NM_001321328.1:c.1049A>G, NM_001174150.2:c.1094A>G, NM_001174150.1:c.1094A>G, NM_001174151.2:c.785A>G, NM_001174151.1:c.785A>G, NR_033427.2:n.1118A>G, NR_033427.1:n.1134A>G, NR_135621.2:n.1109A>G, NR_135621.1:n.1125A>G, XM_006713532.4:c.1049A>G, XM_006713532.3:c.1049A>G, XM_006713532.2:c.1049A>G, XM_006713532.1:c.1049A>G, XM_011512533.3:c.1058A>G, XM_011512533.2:c.1058A>G, XM_011512533.1:c.1058A>G, XM_011512532.3:c.1058A>G, XM_011512532.2:c.1058A>G, XM_011512532.1:c.1058A>G, XM_011512535.3:c.1019A>G, XM_011512535.2:c.1019A>G, XM_011512535.1:c.1019A>G, XM_017005853.2:c.785A>G, XM_017005853.1:c.785A>G, XM_047447660.1:c.1094A>G, NM_001410782.1:c.1094A>G, XM_047447661.1:c.773A>G, NP_659433.2:p.Asp258Gly, NP_878899.1:p.Asp365Gly, NP_001308257.1:p.Asp350Gly, NP_001167621.1:p.Asp365Gly, NP_001167622.1:p.Asp262Gly, XP_006713595.1:p.Asp350Gly, XP_011510835.1:p.Asp353Gly, XP_011510834.1:p.Asp353Gly, XP_011510837.1:p.Asp340Gly, XP_016861342.1:p.Asp262Gly, XP_047303616.1:p.Asp365Gly, XP_047303617.1:p.Asp258Gly

                        12.

                        rs1462917796 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GT>- [Show Flanks]
                          Chromosome:
                          3:94035429 (GRCh38)
                          3:93754273 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:94035425:TGTGT:TGT
                          Gene:
                          ARL13B (Varview)
                          Functional Consequence:
                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.94035427GT[1], NC_000003.11:g.93754271GT[1], NG_017076.1:g.60289GT[1], NM_144996.4:c.158_159del, NM_144996.3:c.158_159del, NM_182896.3:c.479_480del, NM_182896.2:c.479_480del, NM_001321328.2:c.434_435del, NM_001321328.1:c.434_435del, NM_001174150.2:c.479_480del, NM_001174150.1:c.479_480del, NM_001174151.2:c.170_171del, NM_001174151.1:c.170_171del, NR_033427.2:n.496GT[1], NR_033427.1:n.512GT[1], NR_135621.2:n.492GT[1], NR_135621.1:n.508GT[1], XM_006713532.4:c.434_435del, XM_006713532.3:c.434_435del, XM_006713532.2:c.434_435del, XM_006713532.1:c.434_435del, XM_011512533.3:c.443_444del, XM_011512533.2:c.443_444del, XM_011512533.1:c.443_444del, XM_011512532.3:c.443_444del, XM_011512532.2:c.443_444del, XM_011512532.1:c.443_444del, XM_011512535.3:c.404_405del, XM_011512535.2:c.404_405del, XM_011512535.1:c.404_405del, XM_017005853.2:c.170_171del, XM_017005853.1:c.170_171del, XM_047447660.1:c.479_480del, NM_001410782.1:c.479_480del, XM_047447661.1:c.158_159del, NP_659433.2:p.Cys53fs, NP_878899.1:p.Cys160fs, NP_001308257.1:p.Cys145fs, NP_001167621.1:p.Cys160fs, NP_001167622.1:p.Cys57fs, XP_006713595.1:p.Cys145fs, XP_011510835.1:p.Cys148fs, XP_011510834.1:p.Cys148fs, XP_011510837.1:p.Cys135fs, XP_016861342.1:p.Cys57fs, XP_047303616.1:p.Cys160fs, XP_047303617.1:p.Cys53fs

                          13.

                          rs1457967935 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:94036606 (GRCh38)
                            3:93755450 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:94036605:A:G
                            Gene:
                            ARL13B (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.94036606A>G, NC_000003.11:g.93755450A>G, NG_017076.1:g.61468A>G, NM_144996.4:c.220A>G, NM_144996.3:c.220A>G, NM_182896.3:c.541A>G, NM_182896.2:c.541A>G, NM_001321328.2:c.496A>G, NM_001321328.1:c.496A>G, NM_001174150.2:c.541A>G, NM_001174150.1:c.541A>G, NM_001174151.2:c.232A>G, NM_001174151.1:c.232A>G, NR_033427.2:n.565A>G, NR_033427.1:n.581A>G, NR_135621.2:n.556A>G, NR_135621.1:n.572A>G, XM_006713532.4:c.496A>G, XM_006713532.3:c.496A>G, XM_006713532.2:c.496A>G, XM_006713532.1:c.496A>G, XM_011512533.3:c.505A>G, XM_011512533.2:c.505A>G, XM_011512533.1:c.505A>G, XM_011512532.3:c.505A>G, XM_011512532.2:c.505A>G, XM_011512532.1:c.505A>G, XM_011512535.3:c.466A>G, XM_011512535.2:c.466A>G, XM_011512535.1:c.466A>G, XM_017005853.2:c.232A>G, XM_017005853.1:c.232A>G, XM_047447660.1:c.541A>G, NM_001410782.1:c.541A>G, XM_047447661.1:c.220A>G, NP_659433.2:p.Lys74Glu, NP_878899.1:p.Lys181Glu, NP_001308257.1:p.Lys166Glu, NP_001167621.1:p.Lys181Glu, NP_001167622.1:p.Lys78Glu, XP_006713595.1:p.Lys166Glu, XP_011510835.1:p.Lys169Glu, XP_011510834.1:p.Lys169Glu, XP_011510837.1:p.Lys156Glu, XP_016861342.1:p.Lys78Glu, XP_047303616.1:p.Lys181Glu, XP_047303617.1:p.Lys74Glu

                            14.

                            rs1455730899 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:94003901 (GRCh38)
                              3:93722745 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:94003900:A:G
                              Gene:
                              ARL13B (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.94003901A>G, NC_000003.11:g.93722745A>G, NG_017076.1:g.28763A>G, NM_182896.3:c.373A>G, NM_182896.2:c.373A>G, NM_001321328.2:c.328A>G, NM_001321328.1:c.328A>G, NM_001174150.2:c.373A>G, NM_001174150.1:c.373A>G, NM_001174151.2:c.64A>G, NM_001174151.1:c.64A>G, XM_006713532.4:c.328A>G, XM_006713532.3:c.328A>G, XM_006713532.2:c.328A>G, XM_006713532.1:c.328A>G, XM_011512533.3:c.337A>G, XM_011512533.2:c.337A>G, XM_011512533.1:c.337A>G, XM_011512532.3:c.337A>G, XM_011512532.2:c.337A>G, XM_011512532.1:c.337A>G, XM_011512535.3:c.298A>G, XM_011512535.2:c.298A>G, XM_011512535.1:c.298A>G, XM_017005853.2:c.64A>G, XM_017005853.1:c.64A>G, XM_047447660.1:c.373A>G, NM_001410782.1:c.373A>G, NP_878899.1:p.Ile125Val, NP_001308257.1:p.Ile110Val, NP_001167621.1:p.Ile125Val, NP_001167622.1:p.Ile22Val, XP_006713595.1:p.Ile110Val, XP_011510835.1:p.Ile113Val, XP_011510834.1:p.Ile113Val, XP_011510837.1:p.Ile100Val, XP_016861342.1:p.Ile22Val, XP_047303616.1:p.Ile125Val

                              15.

                              rs1453508206 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:94043154 (GRCh38)
                                3:93761998 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:94043153:A:C
                                Gene:
                                ARL13B (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.94043154A>C, NC_000003.11:g.93761998A>C, NG_017076.1:g.68016A>C, NM_144996.4:c.617A>C, NM_144996.3:c.617A>C, NM_182896.3:c.938A>C, NM_182896.2:c.938A>C, NM_001321328.2:c.893A>C, NM_001321328.1:c.893A>C, NM_001174150.2:c.938A>C, NM_001174150.1:c.938A>C, NM_001174151.2:c.629A>C, NM_001174151.1:c.629A>C, NR_033427.2:n.962A>C, NR_033427.1:n.978A>C, NR_135621.2:n.953A>C, NR_135621.1:n.969A>C, XM_006713532.4:c.893A>C, XM_006713532.3:c.893A>C, XM_006713532.2:c.893A>C, XM_006713532.1:c.893A>C, XM_011512533.3:c.902A>C, XM_011512533.2:c.902A>C, XM_011512533.1:c.902A>C, XM_011512532.3:c.902A>C, XM_011512532.2:c.902A>C, XM_011512532.1:c.902A>C, XM_011512535.3:c.863A>C, XM_011512535.2:c.863A>C, XM_011512535.1:c.863A>C, XM_017005853.2:c.629A>C, XM_017005853.1:c.629A>C, XM_047447660.1:c.938A>C, NM_001410782.1:c.938A>C, XM_047447661.1:c.617A>C, NP_659433.2:p.Glu206Ala, NP_878899.1:p.Glu313Ala, NP_001308257.1:p.Glu298Ala, NP_001167621.1:p.Glu313Ala, NP_001167622.1:p.Glu210Ala, XP_006713595.1:p.Glu298Ala, XP_011510835.1:p.Glu301Ala, XP_011510834.1:p.Glu301Ala, XP_011510837.1:p.Glu288Ala, XP_016861342.1:p.Glu210Ala, XP_047303616.1:p.Glu313Ala, XP_047303617.1:p.Glu206Ala

                                16.

                                rs1441975278 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:94003799 (GRCh38)
                                  3:93722643 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:94003798:G:A
                                  Gene:
                                  ARL13B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.94003799G>A, NC_000003.11:g.93722643G>A, NG_017076.1:g.28661G>A, NM_182896.3:c.271G>A, NM_182896.2:c.271G>A, NM_001321328.2:c.226G>A, NM_001321328.1:c.226G>A, NM_001174150.2:c.271G>A, NM_001174150.1:c.271G>A, NM_001174151.2:c.-39G>A, NM_001174151.1:c.-39G>A, XM_006713532.4:c.226G>A, XM_006713532.3:c.226G>A, XM_006713532.2:c.226G>A, XM_006713532.1:c.226G>A, XM_011512533.3:c.235G>A, XM_011512533.2:c.235G>A, XM_011512533.1:c.235G>A, XM_011512532.3:c.235G>A, XM_011512532.2:c.235G>A, XM_011512532.1:c.235G>A, XM_011512535.3:c.196G>A, XM_011512535.2:c.196G>A, XM_011512535.1:c.196G>A, XM_017005853.2:c.-39G>A, XM_017005853.1:c.-39G>A, XM_047447660.1:c.271G>A, NM_001410782.1:c.271G>A, NP_878899.1:p.Gly91Arg, NP_001308257.1:p.Gly76Arg, NP_001167621.1:p.Gly91Arg, XP_006713595.1:p.Gly76Arg, XP_011510835.1:p.Gly79Arg, XP_011510834.1:p.Gly79Arg, XP_011510837.1:p.Gly66Arg, XP_047303616.1:p.Gly91Arg

                                  17.

                                  rs1440031319 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:94043231 (GRCh38)
                                    3:93762075 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:94043230:T:C
                                    Gene:
                                    ARL13B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.94043231T>C, NC_000003.11:g.93762075T>C, NG_017076.1:g.68093T>C, NM_144996.4:c.694T>C, NM_144996.3:c.694T>C, NM_182896.3:c.1015T>C, NM_182896.2:c.1015T>C, NM_001321328.2:c.970T>C, NM_001321328.1:c.970T>C, NM_001174150.2:c.1015T>C, NM_001174150.1:c.1015T>C, NM_001174151.2:c.706T>C, NM_001174151.1:c.706T>C, NR_033427.2:n.1039T>C, NR_033427.1:n.1055T>C, NR_135621.2:n.1030T>C, NR_135621.1:n.1046T>C, XM_006713532.4:c.970T>C, XM_006713532.3:c.970T>C, XM_006713532.2:c.970T>C, XM_006713532.1:c.970T>C, XM_011512533.3:c.979T>C, XM_011512533.2:c.979T>C, XM_011512533.1:c.979T>C, XM_011512532.3:c.979T>C, XM_011512532.2:c.979T>C, XM_011512532.1:c.979T>C, XM_011512535.3:c.940T>C, XM_011512535.2:c.940T>C, XM_011512535.1:c.940T>C, XM_017005853.2:c.706T>C, XM_017005853.1:c.706T>C, XM_047447660.1:c.1015T>C, NM_001410782.1:c.1015T>C, XM_047447661.1:c.694T>C

                                    18.

                                    rs1437100832 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      3:94043104 (GRCh38)
                                      3:93761948 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:94043103:G:
                                      Gene:
                                      ARL13B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.94043104del, NC_000003.11:g.93761948del, NG_017076.1:g.67966del, NM_144996.4:c.567del, NM_144996.3:c.567del, NM_182896.3:c.888del, NM_182896.2:c.888del, NM_001321328.2:c.843del, NM_001321328.1:c.843del, NM_001174150.2:c.888del, NM_001174150.1:c.888del, NM_001174151.2:c.579del, NM_001174151.1:c.579del, NR_033427.2:n.912del, NR_033427.1:n.928del, NR_135621.2:n.903del, NR_135621.1:n.919del, XM_006713532.4:c.843del, XM_006713532.3:c.843del, XM_006713532.2:c.843del, XM_006713532.1:c.843del, XM_011512533.3:c.852del, XM_011512533.2:c.852del, XM_011512533.1:c.852del, XM_011512532.3:c.852del, XM_011512532.2:c.852del, XM_011512532.1:c.852del, XM_011512535.3:c.813del, XM_011512535.2:c.813del, XM_011512535.1:c.813del, XM_017005853.2:c.579del, XM_017005853.1:c.579del, XM_047447660.1:c.888del, NM_001410782.1:c.888del, XM_047447661.1:c.567del, NP_659433.2:p.Glu189fs, NP_878899.1:p.Glu296fs, NP_001308257.1:p.Glu281fs, NP_001167621.1:p.Glu296fs, NP_001167622.1:p.Glu193fs, XP_006713595.1:p.Glu281fs, XP_011510835.1:p.Glu284fs, XP_011510834.1:p.Glu284fs, XP_011510837.1:p.Glu271fs, XP_016861342.1:p.Glu193fs, XP_047303616.1:p.Glu296fs, XP_047303617.1:p.Glu189fs

                                      19.

                                      rs1437035616 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        3:94036705 (GRCh38)
                                        3:93755549 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:94036704:C:A,NC_000003.12:94036704:C:G
                                        Gene:
                                        ARL13B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.94036705C>A, NC_000003.12:g.94036705C>G, NC_000003.11:g.93755549C>A, NC_000003.11:g.93755549C>G, NG_017076.1:g.61567C>A, NG_017076.1:g.61567C>G, NM_144996.4:c.319C>A, NM_144996.4:c.319C>G, NM_144996.3:c.319C>A, NM_144996.3:c.319C>G, NM_182896.3:c.640C>A, NM_182896.3:c.640C>G, NM_182896.2:c.640C>A, NM_182896.2:c.640C>G, NM_001321328.2:c.595C>A, NM_001321328.2:c.595C>G, NM_001321328.1:c.595C>A, NM_001321328.1:c.595C>G, NM_001174150.2:c.640C>A, NM_001174150.2:c.640C>G, NM_001174150.1:c.640C>A, NM_001174150.1:c.640C>G, NM_001174151.2:c.331C>A, NM_001174151.2:c.331C>G, NM_001174151.1:c.331C>A, NM_001174151.1:c.331C>G, NR_033427.2:n.664C>A, NR_033427.2:n.664C>G, NR_033427.1:n.680C>A, NR_033427.1:n.680C>G, NR_135621.2:n.655C>A, NR_135621.2:n.655C>G, NR_135621.1:n.671C>A, NR_135621.1:n.671C>G, XM_006713532.4:c.595C>A, XM_006713532.4:c.595C>G, XM_006713532.3:c.595C>A, XM_006713532.3:c.595C>G, XM_006713532.2:c.595C>A, XM_006713532.2:c.595C>G, XM_006713532.1:c.595C>A, XM_006713532.1:c.595C>G, XM_011512533.3:c.604C>A, XM_011512533.3:c.604C>G, XM_011512533.2:c.604C>A, XM_011512533.2:c.604C>G, XM_011512533.1:c.604C>A, XM_011512533.1:c.604C>G, XM_011512532.3:c.604C>A, XM_011512532.3:c.604C>G, XM_011512532.2:c.604C>A, XM_011512532.2:c.604C>G, XM_011512532.1:c.604C>A, XM_011512532.1:c.604C>G, XM_011512535.3:c.565C>A, XM_011512535.3:c.565C>G, XM_011512535.2:c.565C>A, XM_011512535.2:c.565C>G, XM_011512535.1:c.565C>A, XM_011512535.1:c.565C>G, XM_017005853.2:c.331C>A, XM_017005853.2:c.331C>G, XM_017005853.1:c.331C>A, XM_017005853.1:c.331C>G, XM_047447660.1:c.640C>A, XM_047447660.1:c.640C>G, NM_001410782.1:c.640C>A, NM_001410782.1:c.640C>G, XM_047447661.1:c.319C>A, XM_047447661.1:c.319C>G, NP_659433.2:p.Gln107Lys, NP_659433.2:p.Gln107Glu, NP_878899.1:p.Gln214Lys, NP_878899.1:p.Gln214Glu, NP_001308257.1:p.Gln199Lys, NP_001308257.1:p.Gln199Glu, NP_001167621.1:p.Gln214Lys, NP_001167621.1:p.Gln214Glu, NP_001167622.1:p.Gln111Lys, NP_001167622.1:p.Gln111Glu, XP_006713595.1:p.Gln199Lys, XP_006713595.1:p.Gln199Glu, XP_011510835.1:p.Gln202Lys, XP_011510835.1:p.Gln202Glu, XP_011510834.1:p.Gln202Lys, XP_011510834.1:p.Gln202Glu, XP_011510837.1:p.Gln189Lys, XP_011510837.1:p.Gln189Glu, XP_016861342.1:p.Gln111Lys, XP_016861342.1:p.Gln111Glu, XP_047303616.1:p.Gln214Lys, XP_047303616.1:p.Gln214Glu, XP_047303617.1:p.Gln107Lys, XP_047303617.1:p.Gln107Glu

                                        20.

                                        rs1436525094 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:94053202 (GRCh38)
                                          3:93772046 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:94053201:C:T
                                          Gene:
                                          ARL13B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          HGVS:
                                          NC_000003.12:g.94053202C>T, NC_000003.11:g.93772046C>T, NG_017076.1:g.78064C>T, NM_144996.4:c.905C>T, NM_144996.3:c.905C>T, NM_182896.3:c.1226C>T, NM_182896.2:c.1226C>T, NM_001321328.2:c.1181C>T, NM_001321328.1:c.1181C>T, NM_001174150.2:c.1226C>T, NM_001174150.1:c.1226C>T, NM_001174151.2:c.917C>T, NM_001174151.1:c.917C>T, NR_033427.2:n.1250C>T, NR_033427.1:n.1266C>T, NR_135621.2:n.1241C>T, NR_135621.1:n.1257C>T, XM_006713532.4:c.1181C>T, XM_006713532.3:c.1181C>T, XM_006713532.2:c.1181C>T, XM_006713532.1:c.1181C>T, XM_011512533.3:c.1190C>T, XM_011512533.2:c.1190C>T, XM_011512533.1:c.1190C>T, XM_011512532.3:c.1190C>T, XM_011512532.2:c.1190C>T, XM_011512532.1:c.1190C>T, XM_011512535.3:c.1151C>T, XM_011512535.2:c.1151C>T, XM_011512535.1:c.1151C>T, XM_017005853.2:c.917C>T, XM_017005853.1:c.917C>T, XM_047447660.1:c.1157C>T, NM_001410782.1:c.1157C>T, XM_047447661.1:c.836C>T, NP_659433.2:p.Pro302Leu, NP_878899.1:p.Pro409Leu, NP_001308257.1:p.Pro394Leu, NP_001167621.1:p.Pro409Leu, NP_001167622.1:p.Pro306Leu, XP_006713595.1:p.Pro394Leu, XP_011510835.1:p.Pro397Leu, XP_011510834.1:p.Pro397Leu, XP_011510837.1:p.Pro384Leu, XP_016861342.1:p.Pro306Leu, XP_047303616.1:p.Pro386Leu, XP_047303617.1:p.Pro279Leu

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