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Items: 1 to 20 of 487

1.

rs1488704626 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:59773354 (GRCh38)
    20:58348409 (GRCh37)
    Canonical SPDI:
    NC_000020.11:59773353:C:T
    Gene:
    PHACTR3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.00002/5 (GnomAD_exomes)
    T=0.000021/3 (GnomAD)
    T=0.000035/1 (TOMMO)
    HGVS:
    NC_000020.11:g.59773354C>T, NC_000020.10:g.58348409C>T, NG_029537.2:g.200846C>T, NM_080672.5:c.827C>T, NM_080672.4:c.827C>T, NM_183244.2:c.704C>T, NM_183244.1:c.704C>T, NM_001281507.2:c.704C>T, NM_001281507.1:c.704C>T, NM_001199506.2:c.704C>T, NM_001199506.1:c.704C>T, NM_183246.2:c.494C>T, NM_183246.1:c.494C>T, NM_001199505.1:c.818C>T, XM_011528526.3:c.617C>T, XM_011528526.2:c.617C>T, XM_011528526.1:c.617C>T, XM_017027626.3:c.704C>T, XM_017027626.2:c.704C>T, XM_017027626.1:c.704C>T, XM_017027627.3:c.704C>T, XM_017027627.2:c.704C>T, XM_017027627.1:c.704C>T, XM_011528525.3:c.704C>T, XM_011528525.2:c.704C>T, XM_011528525.1:c.704C>T, XM_017027631.2:c.704C>T, XM_017027631.1:c.704C>T, XM_017027630.2:c.494C>T, XM_017027630.1:c.494C>T, XM_017027628.2:c.608C>T, XM_017027628.1:c.608C>T, NP_542403.1:p.Thr276Met, NP_899067.1:p.Thr235Met, NP_001268436.1:p.Thr235Met, NP_001186435.1:p.Thr235Met, NP_899069.1:p.Thr165Met, NP_001186434.1:p.Thr273Met, XP_011526828.1:p.Thr206Met, XP_016883115.1:p.Thr235Met, XP_016883116.1:p.Thr235Met, XP_011526827.1:p.Thr235Met, XP_016883120.1:p.Thr235Met, XP_016883119.1:p.Thr165Met, XP_016883117.1:p.Thr203Met

    2.

    rs1486942573 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      20:59845199 (GRCh38)
      20:58420254 (GRCh37)
      Canonical SPDI:
      NC_000020.11:59845198:G:A
      Gene:
      PHACTR3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.59845199G>A, NC_000020.10:g.58420254G>A, NG_029537.2:g.272691G>A, NM_080672.5:c.1598G>A, NM_080672.4:c.1598G>A, NM_183244.2:c.1475G>A, NM_183244.1:c.1475G>A, NM_001281507.2:c.1475G>A, NM_001281507.1:c.1475G>A, NM_001199506.2:c.1475G>A, NM_001199506.1:c.1475G>A, NM_183246.2:c.1265G>A, NM_183246.1:c.1265G>A, NM_001199505.1:c.1589G>A, XM_011528526.3:c.1388G>A, XM_011528526.2:c.1388G>A, XM_011528526.1:c.1388G>A, XM_017027626.3:c.1475G>A, XM_017027626.2:c.1475G>A, XM_017027626.1:c.1475G>A, XM_017027627.3:c.1475G>A, XM_017027627.2:c.1475G>A, XM_017027627.1:c.1475G>A, XM_011528525.3:c.1475G>A, XM_011528525.2:c.1475G>A, XM_011528525.1:c.1475G>A, XM_017027631.2:c.1475G>A, XM_017027631.1:c.1475G>A, XM_017027630.2:c.1265G>A, XM_017027630.1:c.1265G>A, XM_017027628.2:c.1379G>A, XM_017027628.1:c.1379G>A, NP_542403.1:p.Arg533His, NP_899067.1:p.Arg492His, NP_001268436.1:p.Arg492His, NP_001186435.1:p.Arg492His, NP_899069.1:p.Arg422His, NP_001186434.1:p.Arg530His, XP_011526828.1:p.Arg463His, XP_016883115.1:p.Arg492His, XP_016883116.1:p.Arg492His, XP_011526827.1:p.Arg492His, XP_016883120.1:p.Arg492His, XP_016883119.1:p.Arg422His, XP_016883117.1:p.Arg460His

      3.

      rs1486727297 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:59806070 (GRCh38)
        20:58381125 (GRCh37)
        Canonical SPDI:
        NC_000020.11:59806069:C:T
        Gene:
        PHACTR3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.59806070C>T, NC_000020.10:g.58381125C>T, NG_029537.2:g.233562C>T, NM_080672.5:c.1204C>T, NM_080672.4:c.1204C>T, NM_183244.2:c.1081C>T, NM_183244.1:c.1081C>T, NM_001281507.2:c.1081C>T, NM_001281507.1:c.1081C>T, NM_001199506.2:c.1081C>T, NM_001199506.1:c.1081C>T, NM_183246.2:c.871C>T, NM_183246.1:c.871C>T, NM_001199505.1:c.1195C>T, XM_011528526.3:c.994C>T, XM_011528526.2:c.994C>T, XM_011528526.1:c.994C>T, XM_017027626.3:c.1081C>T, XM_017027626.2:c.1081C>T, XM_017027626.1:c.1081C>T, XM_017027627.3:c.1081C>T, XM_017027627.2:c.1081C>T, XM_017027627.1:c.1081C>T, XM_011528525.3:c.1081C>T, XM_011528525.2:c.1081C>T, XM_011528525.1:c.1081C>T, XM_017027631.2:c.1081C>T, XM_017027631.1:c.1081C>T, XM_017027630.2:c.871C>T, XM_017027630.1:c.871C>T, XM_017027628.2:c.985C>T, XM_017027628.1:c.985C>T, NP_542403.1:p.Leu402Phe, NP_899067.1:p.Leu361Phe, NP_001268436.1:p.Leu361Phe, NP_001186435.1:p.Leu361Phe, NP_899069.1:p.Leu291Phe, NP_001186434.1:p.Leu399Phe, XP_011526828.1:p.Leu332Phe, XP_016883115.1:p.Leu361Phe, XP_016883116.1:p.Leu361Phe, XP_011526827.1:p.Leu361Phe, XP_016883120.1:p.Leu361Phe, XP_016883119.1:p.Leu291Phe, XP_016883117.1:p.Leu329Phe

        4.

        rs1480391430 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:59743194 (GRCh38)
          20:58318249 (GRCh37)
          Canonical SPDI:
          NC_000020.11:59743193:C:T
          Gene:
          PHACTR3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.59743194C>T, NC_000020.10:g.58318249C>T, NG_029537.2:g.170686C>T, NM_080672.5:c.206C>T, NM_080672.4:c.206C>T, NM_183244.2:c.83C>T, NM_183244.1:c.83C>T, NM_001281507.2:c.83C>T, NM_001281507.1:c.83C>T, NM_001199506.2:c.83C>T, NM_001199506.1:c.83C>T, NM_183246.2:c.83C>T, NM_183246.1:c.83C>T, NM_001199505.1:c.197C>T, XM_011528526.3:c.206C>T, XM_011528526.2:c.206C>T, XM_011528526.1:c.206C>T, XM_017027626.3:c.83C>T, XM_017027626.2:c.83C>T, XM_017027626.1:c.83C>T, XM_017027627.3:c.83C>T, XM_017027627.2:c.83C>T, XM_017027627.1:c.83C>T, XM_011528525.3:c.83C>T, XM_011528525.2:c.83C>T, XM_011528525.1:c.83C>T, XM_017027631.2:c.83C>T, XM_017027631.1:c.83C>T, XM_017027630.2:c.83C>T, XM_017027630.1:c.83C>T, XM_017027628.2:c.197C>T, XM_017027628.1:c.197C>T, NP_542403.1:p.Ala69Val, NP_899067.1:p.Ala28Val, NP_001268436.1:p.Ala28Val, NP_001186435.1:p.Ala28Val, NP_899069.1:p.Ala28Val, NP_001186434.1:p.Ala66Val, XP_011526828.1:p.Ala69Val, XP_016883115.1:p.Ala28Val, XP_016883116.1:p.Ala28Val, XP_011526827.1:p.Ala28Val, XP_016883120.1:p.Ala28Val, XP_016883119.1:p.Ala28Val, XP_016883117.1:p.Ala66Val

          5.

          rs1469453831 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:59755272 (GRCh38)
            20:58330327 (GRCh37)
            Canonical SPDI:
            NC_000020.11:59755271:A:G
            Gene:
            PHACTR3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.59755272A>G, NC_000020.10:g.58330327A>G, NG_029537.2:g.182764A>G, NM_080672.5:c.449A>G, NM_080672.4:c.449A>G, NM_183244.2:c.326A>G, NM_183244.1:c.326A>G, NM_001281507.2:c.326A>G, NM_001281507.1:c.326A>G, NM_001199506.2:c.326A>G, NM_001199506.1:c.326A>G, NM_183246.2:c.326A>G, NM_183246.1:c.326A>G, NM_001199505.1:c.440A>G, XM_011528526.3:c.449A>G, XM_011528526.2:c.449A>G, XM_011528526.1:c.449A>G, XM_017027626.3:c.326A>G, XM_017027626.2:c.326A>G, XM_017027626.1:c.326A>G, XM_017027627.3:c.326A>G, XM_017027627.2:c.326A>G, XM_017027627.1:c.326A>G, XM_011528525.3:c.326A>G, XM_011528525.2:c.326A>G, XM_011528525.1:c.326A>G, XM_017027631.2:c.326A>G, XM_017027631.1:c.326A>G, XM_017027630.2:c.326A>G, XM_017027630.1:c.326A>G, XM_017027628.2:c.440A>G, XM_017027628.1:c.440A>G, NP_542403.1:p.Glu150Gly, NP_899067.1:p.Glu109Gly, NP_001268436.1:p.Glu109Gly, NP_001186435.1:p.Glu109Gly, NP_899069.1:p.Glu109Gly, NP_001186434.1:p.Glu147Gly, XP_011526828.1:p.Glu150Gly, XP_016883115.1:p.Glu109Gly, XP_016883116.1:p.Glu109Gly, XP_011526827.1:p.Glu109Gly, XP_016883120.1:p.Glu109Gly, XP_016883119.1:p.Glu109Gly, XP_016883117.1:p.Glu147Gly

            6.

            rs1469056284 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              20:59806150 (GRCh38)
              20:58381205 (GRCh37)
              Canonical SPDI:
              NC_000020.11:59806149:A:C
              Gene:
              PHACTR3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000012/3 (GnomAD_exomes)
              C=0.000014/2 (GnomAD)
              C=0.000015/4 (TOPMED)
              HGVS:
              NC_000020.11:g.59806150A>C, NC_000020.10:g.58381205A>C, NG_029537.2:g.233642A>C, NM_080672.5:c.1284A>C, NM_080672.4:c.1284A>C, NM_183244.2:c.1161A>C, NM_183244.1:c.1161A>C, NM_001281507.2:c.1161A>C, NM_001281507.1:c.1161A>C, NM_001199506.2:c.1161A>C, NM_001199506.1:c.1161A>C, NM_183246.2:c.951A>C, NM_183246.1:c.951A>C, NM_001199505.1:c.1275A>C, XM_011528526.3:c.1074A>C, XM_011528526.2:c.1074A>C, XM_011528526.1:c.1074A>C, XM_017027626.3:c.1161A>C, XM_017027626.2:c.1161A>C, XM_017027626.1:c.1161A>C, XM_017027627.3:c.1161A>C, XM_017027627.2:c.1161A>C, XM_017027627.1:c.1161A>C, XM_011528525.3:c.1161A>C, XM_011528525.2:c.1161A>C, XM_011528525.1:c.1161A>C, XM_017027631.2:c.1161A>C, XM_017027631.1:c.1161A>C, XM_017027630.2:c.951A>C, XM_017027630.1:c.951A>C, XM_017027628.2:c.1065A>C, XM_017027628.1:c.1065A>C, NP_542403.1:p.Glu428Asp, NP_899067.1:p.Glu387Asp, NP_001268436.1:p.Glu387Asp, NP_001186435.1:p.Glu387Asp, NP_899069.1:p.Glu317Asp, NP_001186434.1:p.Glu425Asp, XP_011526828.1:p.Glu358Asp, XP_016883115.1:p.Glu387Asp, XP_016883116.1:p.Glu387Asp, XP_011526827.1:p.Glu387Asp, XP_016883120.1:p.Glu387Asp, XP_016883119.1:p.Glu317Asp, XP_016883117.1:p.Glu355Asp

              7.

              rs1464599179 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TCG>- [Show Flanks]
                Chromosome:
                20:59755253 (GRCh38)
                20:58330308 (GRCh37)
                Canonical SPDI:
                NC_000020.11:59755251:GTCG:G
                Gene:
                PHACTR3 (Varview)
                Functional Consequence:
                inframe_deletion,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000008/2 (TOPMED)
                HGVS:
                NC_000020.11:g.59755253_59755255del, NC_000020.10:g.58330308_58330310del, NG_029537.2:g.182745_182747del, NM_080672.5:c.430_432del, NM_080672.4:c.430_432del, NM_183244.2:c.307_309del, NM_183244.1:c.307_309del, NM_001281507.2:c.307_309del, NM_001281507.1:c.307_309del, NM_001199506.2:c.307_309del, NM_001199506.1:c.307_309del, NM_183246.2:c.307_309del, NM_183246.1:c.307_309del, NM_001199505.1:c.421_423del, XM_011528526.3:c.430_432del, XM_011528526.2:c.430_432del, XM_011528526.1:c.430_432del, XM_017027626.3:c.307_309del, XM_017027626.2:c.307_309del, XM_017027626.1:c.307_309del, XM_017027627.3:c.307_309del, XM_017027627.2:c.307_309del, XM_017027627.1:c.307_309del, XM_011528525.3:c.307_309del, XM_011528525.2:c.307_309del, XM_011528525.1:c.307_309del, XM_017027631.2:c.307_309del, XM_017027631.1:c.307_309del, XM_017027630.2:c.307_309del, XM_017027630.1:c.307_309del, XM_017027628.2:c.421_423del, XM_017027628.1:c.421_423del, NP_542403.1:p.Ser144del, NP_899067.1:p.Ser103del, NP_001268436.1:p.Ser103del, NP_001186435.1:p.Ser103del, NP_899069.1:p.Ser103del, NP_001186434.1:p.Ser141del, XP_011526828.1:p.Ser144del, XP_016883115.1:p.Ser103del, XP_016883116.1:p.Ser103del, XP_011526827.1:p.Ser103del, XP_016883120.1:p.Ser103del, XP_016883119.1:p.Ser103del, XP_016883117.1:p.Ser141del

                8.

                rs1462411157 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:59767308 (GRCh38)
                  20:58342363 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:59767307:G:A
                  Gene:
                  PHACTR3 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_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.59767308G>A, NC_000020.10:g.58342363G>A, NG_029537.2:g.194800G>A, NM_080672.5:c.664G>A, NM_080672.4:c.664G>A, NM_183244.2:c.541G>A, NM_183244.1:c.541G>A, NM_001281507.2:c.541G>A, NM_001281507.1:c.541G>A, NM_001199506.2:c.541G>A, NM_001199506.1:c.541G>A, NM_001199505.1:c.655G>A, XM_017027626.3:c.541G>A, XM_017027626.2:c.541G>A, XM_017027626.1:c.541G>A, XM_017027627.3:c.541G>A, XM_017027627.2:c.541G>A, XM_017027627.1:c.541G>A, XM_011528525.3:c.541G>A, XM_011528525.2:c.541G>A, XM_011528525.1:c.541G>A, XM_017027631.2:c.541G>A, XM_017027631.1:c.541G>A, NP_542403.1:p.Glu222Lys, NP_899067.1:p.Glu181Lys, NP_001268436.1:p.Glu181Lys, NP_001186435.1:p.Glu181Lys, NP_001186434.1:p.Glu219Lys, XP_016883115.1:p.Glu181Lys, XP_016883116.1:p.Glu181Lys, XP_011526827.1:p.Glu181Lys, XP_016883120.1:p.Glu181Lys

                  9.

                  rs1461594370 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:59806191 (GRCh38)
                    20:58381246 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:59806190:C:T
                    Gene:
                    PHACTR3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.59806191C>T, NC_000020.10:g.58381246C>T, NG_029537.2:g.233683C>T, NM_080672.5:c.1325C>T, NM_080672.4:c.1325C>T, NM_183244.2:c.1202C>T, NM_183244.1:c.1202C>T, NM_001281507.2:c.1202C>T, NM_001281507.1:c.1202C>T, NM_001199506.2:c.1202C>T, NM_001199506.1:c.1202C>T, NM_183246.2:c.992C>T, NM_183246.1:c.992C>T, NM_001199505.1:c.1316C>T, XM_011528526.3:c.1115C>T, XM_011528526.2:c.1115C>T, XM_011528526.1:c.1115C>T, XM_017027626.3:c.1202C>T, XM_017027626.2:c.1202C>T, XM_017027626.1:c.1202C>T, XM_017027627.3:c.1202C>T, XM_017027627.2:c.1202C>T, XM_017027627.1:c.1202C>T, XM_011528525.3:c.1202C>T, XM_011528525.2:c.1202C>T, XM_011528525.1:c.1202C>T, XM_017027631.2:c.1202C>T, XM_017027631.1:c.1202C>T, XM_017027630.2:c.992C>T, XM_017027630.1:c.992C>T, XM_017027628.2:c.1106C>T, XM_017027628.1:c.1106C>T, NP_542403.1:p.Ser442Phe, NP_899067.1:p.Ser401Phe, NP_001268436.1:p.Ser401Phe, NP_001186435.1:p.Ser401Phe, NP_899069.1:p.Ser331Phe, NP_001186434.1:p.Ser439Phe, XP_011526828.1:p.Ser372Phe, XP_016883115.1:p.Ser401Phe, XP_016883116.1:p.Ser401Phe, XP_011526827.1:p.Ser401Phe, XP_016883120.1:p.Ser401Phe, XP_016883119.1:p.Ser331Phe, XP_016883117.1:p.Ser369Phe

                    10.

                    rs1461078853 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:59840388 (GRCh38)
                      20:58415443 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:59840387:G:A
                      Gene:
                      PHACTR3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.59840388G>A, NC_000020.10:g.58415443G>A, NG_029537.2:g.267880G>A, NM_080672.5:c.1404G>A, NM_080672.4:c.1404G>A, NM_183244.2:c.1281G>A, NM_183244.1:c.1281G>A, NM_001281507.2:c.1281G>A, NM_001281507.1:c.1281G>A, NM_001199506.2:c.1281G>A, NM_001199506.1:c.1281G>A, NM_183246.2:c.1071G>A, NM_183246.1:c.1071G>A, NM_001199505.1:c.1395G>A, XM_011528526.3:c.1194G>A, XM_011528526.2:c.1194G>A, XM_011528526.1:c.1194G>A, XM_017027626.3:c.1281G>A, XM_017027626.2:c.1281G>A, XM_017027626.1:c.1281G>A, XM_017027627.3:c.1281G>A, XM_017027627.2:c.1281G>A, XM_017027627.1:c.1281G>A, XM_011528525.3:c.1281G>A, XM_011528525.2:c.1281G>A, XM_011528525.1:c.1281G>A, XM_017027631.2:c.1281G>A, XM_017027631.1:c.1281G>A, XM_017027630.2:c.1071G>A, XM_017027630.1:c.1071G>A, XM_017027628.2:c.1185G>A, XM_017027628.1:c.1185G>A

                      11.

                      rs1460151386 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        20:59806140 (GRCh38)
                        20:58381195 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:59806139:G:T
                        Gene:
                        PHACTR3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000020.11:g.59806140G>T, NC_000020.10:g.58381195G>T, NG_029537.2:g.233632G>T, NM_080672.5:c.1274G>T, NM_080672.4:c.1274G>T, NM_183244.2:c.1151G>T, NM_183244.1:c.1151G>T, NM_001281507.2:c.1151G>T, NM_001281507.1:c.1151G>T, NM_001199506.2:c.1151G>T, NM_001199506.1:c.1151G>T, NM_183246.2:c.941G>T, NM_183246.1:c.941G>T, NM_001199505.1:c.1265G>T, XM_011528526.3:c.1064G>T, XM_011528526.2:c.1064G>T, XM_011528526.1:c.1064G>T, XM_017027626.3:c.1151G>T, XM_017027626.2:c.1151G>T, XM_017027626.1:c.1151G>T, XM_017027627.3:c.1151G>T, XM_017027627.2:c.1151G>T, XM_017027627.1:c.1151G>T, XM_011528525.3:c.1151G>T, XM_011528525.2:c.1151G>T, XM_011528525.1:c.1151G>T, XM_017027631.2:c.1151G>T, XM_017027631.1:c.1151G>T, XM_017027630.2:c.941G>T, XM_017027630.1:c.941G>T, XM_017027628.2:c.1055G>T, XM_017027628.1:c.1055G>T, NP_542403.1:p.Arg425Met, NP_899067.1:p.Arg384Met, NP_001268436.1:p.Arg384Met, NP_001186435.1:p.Arg384Met, NP_899069.1:p.Arg314Met, NP_001186434.1:p.Arg422Met, XP_011526828.1:p.Arg355Met, XP_016883115.1:p.Arg384Met, XP_016883116.1:p.Arg384Met, XP_011526827.1:p.Arg384Met, XP_016883120.1:p.Arg384Met, XP_016883119.1:p.Arg314Met, XP_016883117.1:p.Arg352Met

                        12.

                        rs1460146428 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          20:59755321 (GRCh38)
                          20:58330376 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:59755320:C:A
                          Gene:
                          PHACTR3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1457912590 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            20:59767350 (GRCh38)
                            20:58342405 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:59767349:A:C
                            Gene:
                            PHACTR3 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000020.11:g.59767350A>C, NC_000020.10:g.58342405A>C, NG_029537.2:g.194842A>C, NM_080672.5:c.706A>C, NM_080672.4:c.706A>C, NM_183244.2:c.583A>C, NM_183244.1:c.583A>C, NM_001281507.2:c.583A>C, NM_001281507.1:c.583A>C, NM_001199506.2:c.583A>C, NM_001199506.1:c.583A>C, NM_001199505.1:c.697A>C, XM_017027626.3:c.583A>C, XM_017027626.2:c.583A>C, XM_017027626.1:c.583A>C, XM_017027627.3:c.583A>C, XM_017027627.2:c.583A>C, XM_017027627.1:c.583A>C, XM_011528525.3:c.583A>C, XM_011528525.2:c.583A>C, XM_011528525.1:c.583A>C, XM_017027631.2:c.583A>C, XM_017027631.1:c.583A>C, NP_542403.1:p.Thr236Pro, NP_899067.1:p.Thr195Pro, NP_001268436.1:p.Thr195Pro, NP_001186435.1:p.Thr195Pro, NP_001186434.1:p.Thr233Pro, XP_016883115.1:p.Thr195Pro, XP_016883116.1:p.Thr195Pro, XP_011526827.1:p.Thr195Pro, XP_016883120.1:p.Thr195Pro

                            14.

                            rs1454774105 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:59845232 (GRCh38)
                              20:58420287 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:59845231:T:C
                              Gene:
                              PHACTR3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.59845232T>C, NC_000020.10:g.58420287T>C, NG_029537.2:g.272724T>C, NM_080672.5:c.1631T>C, NM_080672.4:c.1631T>C, NM_183244.2:c.1508T>C, NM_183244.1:c.1508T>C, NM_001281507.2:c.1508T>C, NM_001281507.1:c.1508T>C, NM_001199506.2:c.1508T>C, NM_001199506.1:c.1508T>C, NM_183246.2:c.1298T>C, NM_183246.1:c.1298T>C, NM_001199505.1:c.1622T>C, XM_011528526.3:c.1421T>C, XM_011528526.2:c.1421T>C, XM_011528526.1:c.1421T>C, XM_017027626.3:c.1508T>C, XM_017027626.2:c.1508T>C, XM_017027626.1:c.1508T>C, XM_017027627.3:c.1508T>C, XM_017027627.2:c.1508T>C, XM_017027627.1:c.1508T>C, XM_011528525.3:c.1508T>C, XM_011528525.2:c.1508T>C, XM_011528525.1:c.1508T>C, XM_017027631.2:c.1508T>C, XM_017027631.1:c.1508T>C, XM_017027630.2:c.1298T>C, XM_017027630.1:c.1298T>C, XM_017027628.2:c.1412T>C, XM_017027628.1:c.1412T>C, NP_542403.1:p.Met544Thr, NP_899067.1:p.Met503Thr, NP_001268436.1:p.Met503Thr, NP_001186435.1:p.Met503Thr, NP_899069.1:p.Met433Thr, NP_001186434.1:p.Met541Thr, XP_011526828.1:p.Met474Thr, XP_016883115.1:p.Met503Thr, XP_016883116.1:p.Met503Thr, XP_011526827.1:p.Met503Thr, XP_016883120.1:p.Met503Thr, XP_016883119.1:p.Met433Thr, XP_016883117.1:p.Met471Thr

                              15.

                              rs1454282092 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                20:59840376 (GRCh38)
                                20:58415431 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:59840375:T:C
                                Gene:
                                PHACTR3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.59840376T>C, NC_000020.10:g.58415431T>C, NG_029537.2:g.267868T>C, NM_080672.5:c.1392T>C, NM_080672.4:c.1392T>C, NM_183244.2:c.1269T>C, NM_183244.1:c.1269T>C, NM_001281507.2:c.1269T>C, NM_001281507.1:c.1269T>C, NM_001199506.2:c.1269T>C, NM_001199506.1:c.1269T>C, NM_183246.2:c.1059T>C, NM_183246.1:c.1059T>C, NM_001199505.1:c.1383T>C, XM_011528526.3:c.1182T>C, XM_011528526.2:c.1182T>C, XM_011528526.1:c.1182T>C, XM_017027626.3:c.1269T>C, XM_017027626.2:c.1269T>C, XM_017027626.1:c.1269T>C, XM_017027627.3:c.1269T>C, XM_017027627.2:c.1269T>C, XM_017027627.1:c.1269T>C, XM_011528525.3:c.1269T>C, XM_011528525.2:c.1269T>C, XM_011528525.1:c.1269T>C, XM_017027631.2:c.1269T>C, XM_017027631.1:c.1269T>C, XM_017027630.2:c.1059T>C, XM_017027630.1:c.1059T>C, XM_017027628.2:c.1173T>C, XM_017027628.1:c.1173T>C

                                16.

                                rs1445671232 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  20:59755335 (GRCh38)
                                  20:58330390 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:59755334:T:G
                                  Gene:
                                  PHACTR3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000020.11:g.59755335T>G, NC_000020.10:g.58330390T>G, NG_029537.2:g.182827T>G, NM_080672.5:c.512T>G, NM_080672.4:c.512T>G, NM_183244.2:c.389T>G, NM_183244.1:c.389T>G, NM_001281507.2:c.389T>G, NM_001281507.1:c.389T>G, NM_001199506.2:c.389T>G, NM_001199506.1:c.389T>G, NM_183246.2:c.389T>G, NM_183246.1:c.389T>G, NM_001199505.1:c.503T>G, XM_011528526.3:c.512T>G, XM_011528526.2:c.512T>G, XM_011528526.1:c.512T>G, XM_017027626.3:c.389T>G, XM_017027626.2:c.389T>G, XM_017027626.1:c.389T>G, XM_017027627.3:c.389T>G, XM_017027627.2:c.389T>G, XM_017027627.1:c.389T>G, XM_011528525.3:c.389T>G, XM_011528525.2:c.389T>G, XM_011528525.1:c.389T>G, XM_017027631.2:c.389T>G, XM_017027631.1:c.389T>G, XM_017027630.2:c.389T>G, XM_017027630.1:c.389T>G, XM_017027628.2:c.503T>G, XM_017027628.1:c.503T>G, NP_542403.1:p.Leu171Arg, NP_899067.1:p.Leu130Arg, NP_001268436.1:p.Leu130Arg, NP_001186435.1:p.Leu130Arg, NP_899069.1:p.Leu130Arg, NP_001186434.1:p.Leu168Arg, XP_011526828.1:p.Leu171Arg, XP_016883115.1:p.Leu130Arg, XP_016883116.1:p.Leu130Arg, XP_011526827.1:p.Leu130Arg, XP_016883120.1:p.Leu130Arg, XP_016883119.1:p.Leu130Arg, XP_016883117.1:p.Leu168Arg

                                  17.

                                  rs1445198876 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    20:59773434 (GRCh38)
                                    20:58348489 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:59773433:A:T
                                    Gene:
                                    PHACTR3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000111/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.59773434A>T, NC_000020.10:g.58348489A>T, NG_029537.2:g.200926A>T, NM_080672.5:c.907A>T, NM_080672.4:c.907A>T, NM_183244.2:c.784A>T, NM_183244.1:c.784A>T, NM_001281507.2:c.784A>T, NM_001281507.1:c.784A>T, NM_001199506.2:c.784A>T, NM_001199506.1:c.784A>T, NM_183246.2:c.574A>T, NM_183246.1:c.574A>T, NM_001199505.1:c.898A>T, XM_011528526.3:c.697A>T, XM_011528526.2:c.697A>T, XM_011528526.1:c.697A>T, XM_017027626.3:c.784A>T, XM_017027626.2:c.784A>T, XM_017027626.1:c.784A>T, XM_017027627.3:c.784A>T, XM_017027627.2:c.784A>T, XM_017027627.1:c.784A>T, XM_011528525.3:c.784A>T, XM_011528525.2:c.784A>T, XM_011528525.1:c.784A>T, XM_017027631.2:c.784A>T, XM_017027631.1:c.784A>T, XM_017027630.2:c.574A>T, XM_017027630.1:c.574A>T, XM_017027628.2:c.688A>T, XM_017027628.1:c.688A>T, NP_542403.1:p.Thr303Ser, NP_899067.1:p.Thr262Ser, NP_001268436.1:p.Thr262Ser, NP_001186435.1:p.Thr262Ser, NP_899069.1:p.Thr192Ser, NP_001186434.1:p.Thr300Ser, XP_011526828.1:p.Thr233Ser, XP_016883115.1:p.Thr262Ser, XP_016883116.1:p.Thr262Ser, XP_011526827.1:p.Thr262Ser, XP_016883120.1:p.Thr262Ser, XP_016883119.1:p.Thr192Ser, XP_016883117.1:p.Thr230Ser

                                    18.

                                    rs1444634588 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      20:59840406 (GRCh38)
                                      20:58415461 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:59840405:A:T
                                      Gene:
                                      PHACTR3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000047/1 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.59840406A>T, NC_000020.10:g.58415461A>T, NG_029537.2:g.267898A>T, NM_080672.5:c.1422A>T, NM_080672.4:c.1422A>T, NM_183244.2:c.1299A>T, NM_183244.1:c.1299A>T, NM_001281507.2:c.1299A>T, NM_001281507.1:c.1299A>T, NM_001199506.2:c.1299A>T, NM_001199506.1:c.1299A>T, NM_183246.2:c.1089A>T, NM_183246.1:c.1089A>T, NM_001199505.1:c.1413A>T, XM_011528526.3:c.1212A>T, XM_011528526.2:c.1212A>T, XM_011528526.1:c.1212A>T, XM_017027626.3:c.1299A>T, XM_017027626.2:c.1299A>T, XM_017027626.1:c.1299A>T, XM_017027627.3:c.1299A>T, XM_017027627.2:c.1299A>T, XM_017027627.1:c.1299A>T, XM_011528525.3:c.1299A>T, XM_011528525.2:c.1299A>T, XM_011528525.1:c.1299A>T, XM_017027631.2:c.1299A>T, XM_017027631.1:c.1299A>T, XM_017027630.2:c.1089A>T, XM_017027630.1:c.1089A>T, XM_017027628.2:c.1203A>T, XM_017027628.1:c.1203A>T, NP_542403.1:p.Glu474Asp, NP_899067.1:p.Glu433Asp, NP_001268436.1:p.Glu433Asp, NP_001186435.1:p.Glu433Asp, NP_899069.1:p.Glu363Asp, NP_001186434.1:p.Glu471Asp, XP_011526828.1:p.Glu404Asp, XP_016883115.1:p.Glu433Asp, XP_016883116.1:p.Glu433Asp, XP_011526827.1:p.Glu433Asp, XP_016883120.1:p.Glu433Asp, XP_016883119.1:p.Glu363Asp, XP_016883117.1:p.Glu401Asp

                                      19.

                                      rs1443366464 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        20:59841416 (GRCh38)
                                        20:58416471 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:59841415:G:A,NC_000020.11:59841415:G:T
                                        Gene:
                                        PHACTR3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000028/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        A=0.000071/1 (TOMMO)
                                        HGVS:
                                        NC_000020.11:g.59841416G>A, NC_000020.11:g.59841416G>T, NC_000020.10:g.58416471G>A, NC_000020.10:g.58416471G>T, NG_029537.2:g.268908G>A, NG_029537.2:g.268908G>T, NM_080672.5:c.1468G>A, NM_080672.5:c.1468G>T, NM_080672.4:c.1468G>A, NM_080672.4:c.1468G>T, NM_183244.2:c.1345G>A, NM_183244.2:c.1345G>T, NM_183244.1:c.1345G>A, NM_183244.1:c.1345G>T, NM_001281507.2:c.1345G>A, NM_001281507.2:c.1345G>T, NM_001281507.1:c.1345G>A, NM_001281507.1:c.1345G>T, NM_001199506.2:c.1345G>A, NM_001199506.2:c.1345G>T, NM_001199506.1:c.1345G>A, NM_001199506.1:c.1345G>T, NM_183246.2:c.1135G>A, NM_183246.2:c.1135G>T, NM_183246.1:c.1135G>A, NM_183246.1:c.1135G>T, NM_001199505.1:c.1459G>A, NM_001199505.1:c.1459G>T, XM_011528526.3:c.1258G>A, XM_011528526.3:c.1258G>T, XM_011528526.2:c.1258G>A, XM_011528526.2:c.1258G>T, XM_011528526.1:c.1258G>A, XM_011528526.1:c.1258G>T, XM_017027626.3:c.1345G>A, XM_017027626.3:c.1345G>T, XM_017027626.2:c.1345G>A, XM_017027626.2:c.1345G>T, XM_017027626.1:c.1345G>A, XM_017027626.1:c.1345G>T, XM_017027627.3:c.1345G>A, XM_017027627.3:c.1345G>T, XM_017027627.2:c.1345G>A, XM_017027627.2:c.1345G>T, XM_017027627.1:c.1345G>A, XM_017027627.1:c.1345G>T, XM_011528525.3:c.1345G>A, XM_011528525.3:c.1345G>T, XM_011528525.2:c.1345G>A, XM_011528525.2:c.1345G>T, XM_011528525.1:c.1345G>A, XM_011528525.1:c.1345G>T, XM_017027631.2:c.1345G>A, XM_017027631.2:c.1345G>T, XM_017027631.1:c.1345G>A, XM_017027631.1:c.1345G>T, XM_017027630.2:c.1135G>A, XM_017027630.2:c.1135G>T, XM_017027630.1:c.1135G>A, XM_017027630.1:c.1135G>T, XM_017027628.2:c.1249G>A, XM_017027628.2:c.1249G>T, XM_017027628.1:c.1249G>A, XM_017027628.1:c.1249G>T, NP_542403.1:p.Asp490Asn, NP_542403.1:p.Asp490Tyr, NP_899067.1:p.Asp449Asn, NP_899067.1:p.Asp449Tyr, NP_001268436.1:p.Asp449Asn, NP_001268436.1:p.Asp449Tyr, NP_001186435.1:p.Asp449Asn, NP_001186435.1:p.Asp449Tyr, NP_899069.1:p.Asp379Asn, NP_899069.1:p.Asp379Tyr, NP_001186434.1:p.Asp487Asn, NP_001186434.1:p.Asp487Tyr, XP_011526828.1:p.Asp420Asn, XP_011526828.1:p.Asp420Tyr, XP_016883115.1:p.Asp449Asn, XP_016883115.1:p.Asp449Tyr, XP_016883116.1:p.Asp449Asn, XP_016883116.1:p.Asp449Tyr, XP_011526827.1:p.Asp449Asn, XP_011526827.1:p.Asp449Tyr, XP_016883120.1:p.Asp449Asn, XP_016883120.1:p.Asp449Tyr, XP_016883119.1:p.Asp379Asn, XP_016883119.1:p.Asp379Tyr, XP_016883117.1:p.Asp417Asn, XP_016883117.1:p.Asp417Tyr

                                        20.

                                        rs1439463863 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          20:59840422 (GRCh38)
                                          20:58415477 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:59840421:A:G,NC_000020.11:59840421:A:T
                                          Gene:
                                          PHACTR3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.59840422A>G, NC_000020.11:g.59840422A>T, NC_000020.10:g.58415477A>G, NC_000020.10:g.58415477A>T, NG_029537.2:g.267914A>G, NG_029537.2:g.267914A>T, NM_080672.5:c.1438A>G, NM_080672.5:c.1438A>T, NM_080672.4:c.1438A>G, NM_080672.4:c.1438A>T, NM_183244.2:c.1315A>G, NM_183244.2:c.1315A>T, NM_183244.1:c.1315A>G, NM_183244.1:c.1315A>T, NM_001281507.2:c.1315A>G, NM_001281507.2:c.1315A>T, NM_001281507.1:c.1315A>G, NM_001281507.1:c.1315A>T, NM_001199506.2:c.1315A>G, NM_001199506.2:c.1315A>T, NM_001199506.1:c.1315A>G, NM_001199506.1:c.1315A>T, NM_183246.2:c.1105A>G, NM_183246.2:c.1105A>T, NM_183246.1:c.1105A>G, NM_183246.1:c.1105A>T, NM_001199505.1:c.1429A>G, NM_001199505.1:c.1429A>T, XM_011528526.3:c.1228A>G, XM_011528526.3:c.1228A>T, XM_011528526.2:c.1228A>G, XM_011528526.2:c.1228A>T, XM_011528526.1:c.1228A>G, XM_011528526.1:c.1228A>T, XM_017027626.3:c.1315A>G, XM_017027626.3:c.1315A>T, XM_017027626.2:c.1315A>G, XM_017027626.2:c.1315A>T, XM_017027626.1:c.1315A>G, XM_017027626.1:c.1315A>T, XM_017027627.3:c.1315A>G, XM_017027627.3:c.1315A>T, XM_017027627.2:c.1315A>G, XM_017027627.2:c.1315A>T, XM_017027627.1:c.1315A>G, XM_017027627.1:c.1315A>T, XM_011528525.3:c.1315A>G, XM_011528525.3:c.1315A>T, XM_011528525.2:c.1315A>G, XM_011528525.2:c.1315A>T, XM_011528525.1:c.1315A>G, XM_011528525.1:c.1315A>T, XM_017027631.2:c.1315A>G, XM_017027631.2:c.1315A>T, XM_017027631.1:c.1315A>G, XM_017027631.1:c.1315A>T, XM_017027630.2:c.1105A>G, XM_017027630.2:c.1105A>T, XM_017027630.1:c.1105A>G, XM_017027630.1:c.1105A>T, XM_017027628.2:c.1219A>G, XM_017027628.2:c.1219A>T, XM_017027628.1:c.1219A>G, XM_017027628.1:c.1219A>T, NP_542403.1:p.Thr480Ala, NP_542403.1:p.Thr480Ser, NP_899067.1:p.Thr439Ala, NP_899067.1:p.Thr439Ser, NP_001268436.1:p.Thr439Ala, NP_001268436.1:p.Thr439Ser, NP_001186435.1:p.Thr439Ala, NP_001186435.1:p.Thr439Ser, NP_899069.1:p.Thr369Ala, NP_899069.1:p.Thr369Ser, NP_001186434.1:p.Thr477Ala, NP_001186434.1:p.Thr477Ser, XP_011526828.1:p.Thr410Ala, XP_011526828.1:p.Thr410Ser, XP_016883115.1:p.Thr439Ala, XP_016883115.1:p.Thr439Ser, XP_016883116.1:p.Thr439Ala, XP_016883116.1:p.Thr439Ser, XP_011526827.1:p.Thr439Ala, XP_011526827.1:p.Thr439Ser, XP_016883120.1:p.Thr439Ala, XP_016883120.1:p.Thr439Ser, XP_016883119.1:p.Thr369Ala, XP_016883119.1:p.Thr369Ser, XP_016883117.1:p.Thr407Ala, XP_016883117.1:p.Thr407Ser

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