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Links from Protein

Items: 1 to 20 of 334

1.

rs1486778635 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:44131542 (GRCh38)
    22:44527422 (GRCh37)
    Canonical SPDI:
    NC_000022.11:44131541:G:A
    Gene:
    PARVB (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1478442495 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:44168664 (GRCh38)
      22:44564544 (GRCh37)
      Canonical SPDI:
      NC_000022.11:44168663:A:G
      Gene:
      PARVB (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.44168664A>G, NC_000022.10:g.44564544A>G, NG_029743.2:g.174454A>G, NM_013327.5:c.1081A>G, NM_013327.4:c.1081A>G, NM_001003828.3:c.1180A>G, NM_001003828.2:c.1180A>G, NM_001243385.2:c.970A>G, NM_001243385.1:c.970A>G, NM_001243386.2:c.856A>G, NM_001243386.1:c.856A>G, XM_017028792.3:c.1012A>G, XM_017028792.2:c.1012A>G, XM_017028792.1:c.1012A>G, XM_024452235.2:c.1135A>G, XM_024452235.1:c.1135A>G, XM_024452236.2:c.1111A>G, XM_024452236.1:c.1111A>G, XM_024452237.2:c.970A>G, XM_024452237.1:c.970A>G, XM_047441350.1:c.970A>G, XM_047441349.1:c.970A>G, XM_047441351.1:c.925A>G, NP_037459.2:p.Lys361Glu, NP_001003828.1:p.Lys394Glu, NP_001230314.1:p.Lys324Glu, NP_001230315.1:p.Lys286Glu, XP_016884281.1:p.Lys338Glu, XP_024308003.1:p.Lys379Glu, XP_024308004.1:p.Lys371Glu, XP_024308005.1:p.Lys324Glu, XP_047297306.1:p.Lys324Glu, XP_047297305.1:p.Lys324Glu, XP_047297307.1:p.Lys309Glu

      3.

      rs1477730656 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:44136483 (GRCh38)
        22:44532363 (GRCh37)
        Canonical SPDI:
        NC_000022.11:44136482:C:T
        Gene:
        PARVB (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1477361516 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          22:44131555 (GRCh38)
          22:44527435 (GRCh37)
          Canonical SPDI:
          NC_000022.11:44131554:C:G
          Gene:
          PARVB (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000022.11:g.44131555C>G, NC_000022.10:g.44527435C>G, NG_029743.2:g.137345C>G, NM_013327.5:c.445C>G, NM_013327.4:c.445C>G, NM_001003828.3:c.544C>G, NM_001003828.2:c.544C>G, NM_001243385.2:c.334C>G, NM_001243385.1:c.334C>G, NM_001243386.2:c.289C>G, NM_001243386.1:c.289C>G, XM_017028792.3:c.445C>G, XM_017028792.2:c.445C>G, XM_017028792.1:c.445C>G, XM_024452235.2:c.499C>G, XM_024452235.1:c.499C>G, XM_024452236.2:c.544C>G, XM_024452236.1:c.544C>G, XM_024452237.2:c.334C>G, XM_024452237.1:c.334C>G, XM_047441350.1:c.334C>G, XM_047441349.1:c.334C>G, XM_047441351.1:c.289C>G, NP_037459.2:p.Leu149Val, NP_001003828.1:p.Leu182Val, NP_001230314.1:p.Leu112Val, NP_001230315.1:p.Leu97Val, XP_016884281.1:p.Leu149Val, XP_024308003.1:p.Leu167Val, XP_024308004.1:p.Leu182Val, XP_024308005.1:p.Leu112Val, XP_047297306.1:p.Leu112Val, XP_047297305.1:p.Leu112Val, XP_047297307.1:p.Leu97Val

          5.

          rs1466204583 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            22:44119122 (GRCh38)
            22:44515002 (GRCh37)
            Canonical SPDI:
            NC_000022.11:44119121:G:A,NC_000022.11:44119121:G:T
            Gene:
            PARVB (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            A=0.000106/2 (TOMMO)
            HGVS:
            NC_000022.11:g.44119122G>A, NC_000022.11:g.44119122G>T, NC_000022.10:g.44515002G>A, NC_000022.10:g.44515002G>T, NG_029743.2:g.124912G>A, NG_029743.2:g.124912G>T, NM_013327.5:c.358G>A, NM_013327.5:c.358G>T, NM_013327.4:c.358G>A, NM_013327.4:c.358G>T, NM_001003828.3:c.457G>A, NM_001003828.3:c.457G>T, NM_001003828.2:c.457G>A, NM_001003828.2:c.457G>T, NM_001243385.2:c.247G>A, NM_001243385.2:c.247G>T, NM_001243385.1:c.247G>A, NM_001243385.1:c.247G>T, NM_001243386.2:c.202G>A, NM_001243386.2:c.202G>T, NM_001243386.1:c.202G>A, NM_001243386.1:c.202G>T, XM_017028792.3:c.358G>A, XM_017028792.3:c.358G>T, XM_017028792.2:c.358G>A, XM_017028792.2:c.358G>T, XM_017028792.1:c.358G>A, XM_017028792.1:c.358G>T, XM_024452235.2:c.412G>A, XM_024452235.2:c.412G>T, XM_024452235.1:c.412G>A, XM_024452235.1:c.412G>T, XM_024452236.2:c.457G>A, XM_024452236.2:c.457G>T, XM_024452236.1:c.457G>A, XM_024452236.1:c.457G>T, XM_024452237.2:c.247G>A, XM_024452237.2:c.247G>T, XM_024452237.1:c.247G>A, XM_024452237.1:c.247G>T, XM_047441350.1:c.247G>A, XM_047441350.1:c.247G>T, XM_047441349.1:c.247G>A, XM_047441349.1:c.247G>T, XM_047441351.1:c.202G>A, XM_047441351.1:c.202G>T, NP_037459.2:p.Val120Met, NP_037459.2:p.Val120Leu, NP_001003828.1:p.Val153Met, NP_001003828.1:p.Val153Leu, NP_001230314.1:p.Val83Met, NP_001230314.1:p.Val83Leu, NP_001230315.1:p.Val68Met, NP_001230315.1:p.Val68Leu, XP_016884281.1:p.Val120Met, XP_016884281.1:p.Val120Leu, XP_024308003.1:p.Val138Met, XP_024308003.1:p.Val138Leu, XP_024308004.1:p.Val153Met, XP_024308004.1:p.Val153Leu, XP_024308005.1:p.Val83Met, XP_024308005.1:p.Val83Leu, XP_047297306.1:p.Val83Met, XP_047297306.1:p.Val83Leu, XP_047297305.1:p.Val83Met, XP_047297305.1:p.Val83Leu, XP_047297307.1:p.Val68Met, XP_047297307.1:p.Val68Leu

            6.

            rs1459172588 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              22:44168648 (GRCh38)
              22:44564528 (GRCh37)
              Canonical SPDI:
              NC_000022.11:44168647:C:A
              Gene:
              PARVB (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.44168648C>A, NC_000022.10:g.44564528C>A, NG_029743.2:g.174438C>A, NM_013327.5:c.1065C>A, NM_013327.4:c.1065C>A, NM_001003828.3:c.1164C>A, NM_001003828.2:c.1164C>A, NM_001243385.2:c.954C>A, NM_001243385.1:c.954C>A, NM_001243386.2:c.840C>A, NM_001243386.1:c.840C>A, XM_017028792.3:c.996C>A, XM_017028792.2:c.996C>A, XM_017028792.1:c.996C>A, XM_024452235.2:c.1119C>A, XM_024452235.1:c.1119C>A, XM_024452236.2:c.1095C>A, XM_024452236.1:c.1095C>A, XM_024452237.2:c.954C>A, XM_024452237.1:c.954C>A, XM_047441350.1:c.954C>A, XM_047441349.1:c.954C>A, XM_047441351.1:c.909C>A, NP_037459.2:p.Asn355Lys, NP_001003828.1:p.Asn388Lys, NP_001230314.1:p.Asn318Lys, NP_001230315.1:p.Asn280Lys, XP_016884281.1:p.Asn332Lys, XP_024308003.1:p.Asn373Lys, XP_024308004.1:p.Asn365Lys, XP_024308005.1:p.Asn318Lys, XP_047297306.1:p.Asn318Lys, XP_047297305.1:p.Asn318Lys, XP_047297307.1:p.Asn303Lys

              7.

              rs1457561739 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:44131500 (GRCh38)
                22:44527380 (GRCh37)
                Canonical SPDI:
                NC_000022.11:44131499:G:A
                Gene:
                PARVB (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1444218235 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  22:44131585 (GRCh38)
                  22:44527465 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:44131584:C:G
                  Gene:
                  PARVB (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000022.11:g.44131585C>G, NC_000022.10:g.44527465C>G, NG_029743.2:g.137375C>G, NM_013327.5:c.475C>G, NM_013327.4:c.475C>G, NM_001003828.3:c.574C>G, NM_001003828.2:c.574C>G, NM_001243385.2:c.364C>G, NM_001243385.1:c.364C>G, NM_001243386.2:c.319C>G, NM_001243386.1:c.319C>G, XM_017028792.3:c.475C>G, XM_017028792.2:c.475C>G, XM_017028792.1:c.475C>G, XM_024452235.2:c.529C>G, XM_024452235.1:c.529C>G, XM_024452236.2:c.574C>G, XM_024452236.1:c.574C>G, XM_024452237.2:c.364C>G, XM_024452237.1:c.364C>G, XM_047441350.1:c.364C>G, XM_047441349.1:c.364C>G, XM_047441351.1:c.319C>G, NP_037459.2:p.Leu159Val, NP_001003828.1:p.Leu192Val, NP_001230314.1:p.Leu122Val, NP_001230315.1:p.Leu107Val, XP_016884281.1:p.Leu159Val, XP_024308003.1:p.Leu177Val, XP_024308004.1:p.Leu192Val, XP_024308005.1:p.Leu122Val, XP_047297306.1:p.Leu122Val, XP_047297305.1:p.Leu122Val, XP_047297307.1:p.Leu107Val

                  9.

                  rs1442931610 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    22:44136502 (GRCh38)
                    22:44532382 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:44136501:C:A,NC_000022.11:44136501:C:G
                    Gene:
                    PARVB (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000051/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000022.11:g.44136502C>A, NC_000022.11:g.44136502C>G, NC_000022.10:g.44532382C>A, NC_000022.10:g.44532382C>G, NG_029743.2:g.142292C>A, NG_029743.2:g.142292C>G, NM_013327.5:c.676C>A, NM_013327.5:c.676C>G, NM_013327.4:c.676C>A, NM_013327.4:c.676C>G, NM_001003828.3:c.775C>A, NM_001003828.3:c.775C>G, NM_001003828.2:c.775C>A, NM_001003828.2:c.775C>G, NM_001243385.2:c.565C>A, NM_001243385.2:c.565C>G, NM_001243385.1:c.565C>A, NM_001243385.1:c.565C>G, NM_001243386.2:c.520C>A, NM_001243386.2:c.520C>G, NM_001243386.1:c.520C>A, NM_001243386.1:c.520C>G, XM_017028792.3:c.676C>A, XM_017028792.3:c.676C>G, XM_017028792.2:c.676C>A, XM_017028792.2:c.676C>G, XM_017028792.1:c.676C>A, XM_017028792.1:c.676C>G, XM_024452235.2:c.730C>A, XM_024452235.2:c.730C>G, XM_024452235.1:c.730C>A, XM_024452235.1:c.730C>G, XM_024452236.2:c.775C>A, XM_024452236.2:c.775C>G, XM_024452236.1:c.775C>A, XM_024452236.1:c.775C>G, XM_024452237.2:c.565C>A, XM_024452237.2:c.565C>G, XM_024452237.1:c.565C>A, XM_024452237.1:c.565C>G, XM_047441350.1:c.565C>A, XM_047441350.1:c.565C>G, XM_047441349.1:c.565C>A, XM_047441349.1:c.565C>G, XM_047441351.1:c.520C>A, XM_047441351.1:c.520C>G, NP_037459.2:p.Leu226Met, NP_037459.2:p.Leu226Val, NP_001003828.1:p.Leu259Met, NP_001003828.1:p.Leu259Val, NP_001230314.1:p.Leu189Met, NP_001230314.1:p.Leu189Val, NP_001230315.1:p.Leu174Met, NP_001230315.1:p.Leu174Val, XP_016884281.1:p.Leu226Met, XP_016884281.1:p.Leu226Val, XP_024308003.1:p.Leu244Met, XP_024308003.1:p.Leu244Val, XP_024308004.1:p.Leu259Met, XP_024308004.1:p.Leu259Val, XP_024308005.1:p.Leu189Met, XP_024308005.1:p.Leu189Val, XP_047297306.1:p.Leu189Met, XP_047297306.1:p.Leu189Val, XP_047297305.1:p.Leu189Met, XP_047297305.1:p.Leu189Val, XP_047297307.1:p.Leu174Met, XP_047297307.1:p.Leu174Val

                    10.

                    rs1437954190 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      22:44131487 (GRCh38)
                      22:44527367 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:44131486:A:G
                      Gene:
                      PARVB (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000022.11:g.44131487A>G, NC_000022.10:g.44527367A>G, NG_029743.2:g.137277A>G, NM_013327.5:c.377A>G, NM_013327.4:c.377A>G, NM_001003828.3:c.476A>G, NM_001003828.2:c.476A>G, NM_001243385.2:c.266A>G, NM_001243385.1:c.266A>G, NM_001243386.2:c.221A>G, NM_001243386.1:c.221A>G, XM_017028792.3:c.377A>G, XM_017028792.2:c.377A>G, XM_017028792.1:c.377A>G, XM_024452235.2:c.431A>G, XM_024452235.1:c.431A>G, XM_024452236.2:c.476A>G, XM_024452236.1:c.476A>G, XM_024452237.2:c.266A>G, XM_024452237.1:c.266A>G, XM_047441350.1:c.266A>G, XM_047441349.1:c.266A>G, XM_047441351.1:c.221A>G, NP_037459.2:p.Glu126Gly, NP_001003828.1:p.Glu159Gly, NP_001230314.1:p.Glu89Gly, NP_001230315.1:p.Glu74Gly, XP_016884281.1:p.Glu126Gly, XP_024308003.1:p.Glu144Gly, XP_024308004.1:p.Glu159Gly, XP_024308005.1:p.Glu89Gly, XP_047297306.1:p.Glu89Gly, XP_047297305.1:p.Glu89Gly, XP_047297307.1:p.Glu74Gly

                      11.

                      rs1437356819 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:44132934 (GRCh38)
                        22:44528814 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:44132933:G:A
                        Gene:
                        PARVB (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1435500217 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          22:44147921 (GRCh38)
                          22:44543801 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:44147920:A:G
                          Gene:
                          PARVB (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000056/2 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.44147921A>G, NC_000022.10:g.44543801A>G, NG_029743.2:g.153711A>G, NM_013327.5:c.773A>G, NM_013327.4:c.773A>G, NM_001003828.3:c.872A>G, NM_001003828.2:c.872A>G, NM_001243385.2:c.662A>G, NM_001243385.1:c.662A>G, NM_001243386.2:c.617A>G, NM_001243386.1:c.617A>G, XM_017028792.3:c.773A>G, XM_017028792.2:c.773A>G, XM_017028792.1:c.773A>G, XM_024452235.2:c.827A>G, XM_024452235.1:c.827A>G, XM_024452236.2:c.872A>G, XM_024452236.1:c.872A>G, XM_024452237.2:c.662A>G, XM_024452237.1:c.662A>G, XM_047441350.1:c.662A>G, XM_047441349.1:c.662A>G, XM_047441351.1:c.617A>G, NP_037459.2:p.Lys258Arg, NP_001003828.1:p.Lys291Arg, NP_001230314.1:p.Lys221Arg, NP_001230315.1:p.Lys206Arg, XP_016884281.1:p.Lys258Arg, XP_024308003.1:p.Lys276Arg, XP_024308004.1:p.Lys291Arg, XP_024308005.1:p.Lys221Arg, XP_047297306.1:p.Lys221Arg, XP_047297305.1:p.Lys221Arg, XP_047297307.1:p.Lys206Arg

                          13.

                          rs1427957721 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:44093984 (GRCh38)
                            22:44489864 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:44093983:C:T
                            Gene:
                            PARVB (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1424155624 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              22:44131560 (GRCh38)
                              22:44527440 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:44131559:G:C
                              Gene:
                              PARVB (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000028/1 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000022.11:g.44131560G>C, NC_000022.10:g.44527440G>C, NG_029743.2:g.137350G>C, NM_013327.5:c.450G>C, NM_013327.4:c.450G>C, NM_001003828.3:c.549G>C, NM_001003828.2:c.549G>C, NM_001243385.2:c.339G>C, NM_001243385.1:c.339G>C, NM_001243386.2:c.294G>C, NM_001243386.1:c.294G>C, XM_017028792.3:c.450G>C, XM_017028792.2:c.450G>C, XM_017028792.1:c.450G>C, XM_024452235.2:c.504G>C, XM_024452235.1:c.504G>C, XM_024452236.2:c.549G>C, XM_024452236.1:c.549G>C, XM_024452237.2:c.339G>C, XM_024452237.1:c.339G>C, XM_047441350.1:c.339G>C, XM_047441349.1:c.339G>C, XM_047441351.1:c.294G>C, NP_037459.2:p.Gln150His, NP_001003828.1:p.Gln183His, NP_001230314.1:p.Gln113His, NP_001230315.1:p.Gln98His, XP_016884281.1:p.Gln150His, XP_024308003.1:p.Gln168His, XP_024308004.1:p.Gln183His, XP_024308005.1:p.Gln113His, XP_047297306.1:p.Gln113His, XP_047297305.1:p.Gln113His, XP_047297307.1:p.Gln98His

                              15.

                              rs1423973645 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                22:44132913 (GRCh38)
                                22:44528793 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:44132912:G:T
                                Gene:
                                PARVB (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1423885891 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:44119050 (GRCh38)
                                  22:44514930 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:44119049:T:C
                                  Gene:
                                  PARVB (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.44119050T>C, NC_000022.10:g.44514930T>C, NG_029743.2:g.124840T>C, NM_013327.5:c.286T>C, NM_013327.4:c.286T>C, NM_001003828.3:c.385T>C, NM_001003828.2:c.385T>C, NM_001243385.2:c.175T>C, NM_001243385.1:c.175T>C, NM_001243386.2:c.130T>C, NM_001243386.1:c.130T>C, XM_017028792.3:c.286T>C, XM_017028792.2:c.286T>C, XM_017028792.1:c.286T>C, XM_024452235.2:c.340T>C, XM_024452235.1:c.340T>C, XM_024452236.2:c.385T>C, XM_024452236.1:c.385T>C, XM_024452237.2:c.175T>C, XM_024452237.1:c.175T>C, XM_047441350.1:c.175T>C, XM_047441349.1:c.175T>C, XM_047441351.1:c.130T>C, NP_037459.2:p.Trp96Arg, NP_001003828.1:p.Trp129Arg, NP_001230314.1:p.Trp59Arg, NP_001230315.1:p.Trp44Arg, XP_016884281.1:p.Trp96Arg, XP_024308003.1:p.Trp114Arg, XP_024308004.1:p.Trp129Arg, XP_024308005.1:p.Trp59Arg, XP_047297306.1:p.Trp59Arg, XP_047297305.1:p.Trp59Arg, XP_047297307.1:p.Trp44Arg

                                  17.

                                  rs1423426866 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    22:44132914 (GRCh38)
                                    22:44528794 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:44132913:G:T
                                    Gene:
                                    PARVB (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.44132914G>T, NC_000022.10:g.44528794G>T, NG_029743.2:g.138704G>T, NM_013327.5:c.538G>T, NM_013327.4:c.538G>T, NM_001003828.3:c.637G>T, NM_001003828.2:c.637G>T, NM_001243385.2:c.427G>T, NM_001243385.1:c.427G>T, NM_001243386.2:c.382G>T, NM_001243386.1:c.382G>T, XM_017028792.3:c.538G>T, XM_017028792.2:c.538G>T, XM_017028792.1:c.538G>T, XM_024452235.2:c.592G>T, XM_024452235.1:c.592G>T, XM_024452236.2:c.637G>T, XM_024452236.1:c.637G>T, XM_024452237.2:c.427G>T, XM_024452237.1:c.427G>T, XM_047441350.1:c.427G>T, XM_047441349.1:c.427G>T, XM_047441351.1:c.382G>T, NP_037459.2:p.Val180Leu, NP_001003828.1:p.Val213Leu, NP_001230314.1:p.Val143Leu, NP_001230315.1:p.Val128Leu, XP_016884281.1:p.Val180Leu, XP_024308003.1:p.Val198Leu, XP_024308004.1:p.Val213Leu, XP_024308005.1:p.Val143Leu, XP_047297306.1:p.Val143Leu, XP_047297305.1:p.Val143Leu, XP_047297307.1:p.Val128Leu

                                    18.

                                    rs1422855429 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      22:44168667 (GRCh38)
                                      22:44564547 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:44168666:A:G
                                      Gene:
                                      PARVB (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.44168667A>G, NC_000022.10:g.44564547A>G, NG_029743.2:g.174457A>G, NM_013327.5:c.1084A>G, NM_013327.4:c.1084A>G, NM_001003828.3:c.1183A>G, NM_001003828.2:c.1183A>G, NM_001243385.2:c.973A>G, NM_001243385.1:c.973A>G, NM_001243386.2:c.859A>G, NM_001243386.1:c.859A>G, XM_017028792.3:c.1015A>G, XM_017028792.2:c.1015A>G, XM_017028792.1:c.1015A>G, XM_024452235.2:c.1138A>G, XM_024452235.1:c.1138A>G, XM_024452236.2:c.1114A>G, XM_024452236.1:c.1114A>G, XM_024452237.2:c.973A>G, XM_024452237.1:c.973A>G, XM_047441350.1:c.973A>G, XM_047441349.1:c.973A>G, XM_047441351.1:c.928A>G, NP_037459.2:p.Asn362Asp, NP_001003828.1:p.Asn395Asp, NP_001230314.1:p.Asn325Asp, NP_001230315.1:p.Asn287Asp, XP_016884281.1:p.Asn339Asp, XP_024308003.1:p.Asn380Asp, XP_024308004.1:p.Asn372Asp, XP_024308005.1:p.Asn325Asp, XP_047297306.1:p.Asn325Asp, XP_047297305.1:p.Asn325Asp, XP_047297307.1:p.Asn310Asp

                                      19.

                                      rs1420562407 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        22:44132921 (GRCh38)
                                        22:44528801 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:44132920:T:C
                                        Gene:
                                        PARVB (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.44132921T>C, NC_000022.10:g.44528801T>C, NG_029743.2:g.138711T>C, NM_013327.5:c.545T>C, NM_013327.4:c.545T>C, NM_001003828.3:c.644T>C, NM_001003828.2:c.644T>C, NM_001243385.2:c.434T>C, NM_001243385.1:c.434T>C, NM_001243386.2:c.389T>C, NM_001243386.1:c.389T>C, XM_017028792.3:c.545T>C, XM_017028792.2:c.545T>C, XM_017028792.1:c.545T>C, XM_024452235.2:c.599T>C, XM_024452235.1:c.599T>C, XM_024452236.2:c.644T>C, XM_024452236.1:c.644T>C, XM_024452237.2:c.434T>C, XM_024452237.1:c.434T>C, XM_047441350.1:c.434T>C, XM_047441349.1:c.434T>C, XM_047441351.1:c.389T>C, NP_037459.2:p.Ile182Thr, NP_001003828.1:p.Ile215Thr, NP_001230314.1:p.Ile145Thr, NP_001230315.1:p.Ile130Thr, XP_016884281.1:p.Ile182Thr, XP_024308003.1:p.Ile200Thr, XP_024308004.1:p.Ile215Thr, XP_024308005.1:p.Ile145Thr, XP_047297306.1:p.Ile145Thr, XP_047297305.1:p.Ile145Thr, XP_047297307.1:p.Ile130Thr

                                        20.

                                        rs1418082663 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          22:44119048 (GRCh38)
                                          22:44514928 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:44119047:A:T
                                          Gene:
                                          PARVB (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.44119048A>T, NC_000022.10:g.44514928A>T, NG_029743.2:g.124838A>T, NM_013327.5:c.284A>T, NM_013327.4:c.284A>T, NM_001003828.3:c.383A>T, NM_001003828.2:c.383A>T, NM_001243385.2:c.173A>T, NM_001243385.1:c.173A>T, NM_001243386.2:c.128A>T, NM_001243386.1:c.128A>T, XM_017028792.3:c.284A>T, XM_017028792.2:c.284A>T, XM_017028792.1:c.284A>T, XM_024452235.2:c.338A>T, XM_024452235.1:c.338A>T, XM_024452236.2:c.383A>T, XM_024452236.1:c.383A>T, XM_024452237.2:c.173A>T, XM_024452237.1:c.173A>T, XM_047441350.1:c.173A>T, XM_047441349.1:c.173A>T, XM_047441351.1:c.128A>T, NP_037459.2:p.Asp95Val, NP_001003828.1:p.Asp128Val, NP_001230314.1:p.Asp58Val, NP_001230315.1:p.Asp43Val, XP_016884281.1:p.Asp95Val, XP_024308003.1:p.Asp113Val, XP_024308004.1:p.Asp128Val, XP_024308005.1:p.Asp58Val, XP_047297306.1:p.Asp58Val, XP_047297305.1:p.Asp58Val, XP_047297307.1:p.Asp43Val

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