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Items: 1 to 20 of 438

1.

rs1488320565 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    2:37929316 (GRCh38)
    2:38156459 (GRCh37)
    Canonical SPDI:
    NC_000002.12:37929315:C:A,NC_000002.12:37929315:C:G,NC_000002.12:37929315:C:T
    Gene:
    RMDN2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.37929316C>A, NC_000002.12:g.37929316C>G, NC_000002.12:g.37929316C>T, NC_000002.11:g.38156459C>A, NC_000002.11:g.38156459C>G, NC_000002.11:g.38156459C>T, NM_001170792.3:c.39C>A, NM_001170792.3:c.39C>G, NM_001170792.3:c.39C>T, NM_001170792.2:c.39C>A, NM_001170792.2:c.39C>G, NM_001170792.2:c.39C>T, NM_001170792.1:c.39C>A, NM_001170792.1:c.39C>G, NM_001170792.1:c.39C>T, NM_001170791.3:c.39C>A, NM_001170791.3:c.39C>G, NM_001170791.3:c.39C>T, NM_001170791.2:c.39C>A, NM_001170791.2:c.39C>G, NM_001170791.2:c.39C>T, NM_001170791.1:c.39C>A, NM_001170791.1:c.39C>G, NM_001170791.1:c.39C>T, XM_011532616.3:c.39C>A, XM_011532616.3:c.39C>G, XM_011532616.3:c.39C>T, XM_011532616.2:c.39C>A, XM_011532616.2:c.39C>G, XM_011532616.2:c.39C>T, XM_011532616.1:c.39C>A, XM_011532616.1:c.39C>G, XM_011532616.1:c.39C>T, XM_017003477.3:c.39C>A, XM_017003477.3:c.39C>G, XM_017003477.3:c.39C>T, XM_017003477.2:c.39C>A, XM_017003477.2:c.39C>G, XM_017003477.2:c.39C>T, XM_017003477.1:c.39C>A, XM_017003477.1:c.39C>G, XM_017003477.1:c.39C>T, XM_017003476.3:c.39C>A, XM_017003476.3:c.39C>G, XM_017003476.3:c.39C>T, XM_017003476.2:c.39C>A, XM_017003476.2:c.39C>G, XM_017003476.2:c.39C>T, XM_017003476.1:c.39C>A, XM_017003476.1:c.39C>G, XM_017003476.1:c.39C>T, NM_001322211.2:c.39C>A, NM_001322211.2:c.39C>G, NM_001322211.2:c.39C>T, NM_001322211.1:c.39C>A, NM_001322211.1:c.39C>G, NM_001322211.1:c.39C>T, XM_017003478.2:c.39C>A, XM_017003478.2:c.39C>G, XM_017003478.2:c.39C>T, XM_017003478.1:c.39C>A, XM_017003478.1:c.39C>G, XM_017003478.1:c.39C>T, NM_001322212.2:c.39C>A, NM_001322212.2:c.39C>G, NM_001322212.2:c.39C>T, NM_001322212.1:c.39C>A, NM_001322212.1:c.39C>G, NM_001322212.1:c.39C>T, XM_047443518.1:c.39C>A, XM_047443518.1:c.39C>G, XM_047443518.1:c.39C>T, XM_047443519.1:c.39C>A, XM_047443519.1:c.39C>G, XM_047443519.1:c.39C>T, NP_001164263.1:p.Ile13Met, NP_001164262.1:p.Ile13Met, XP_011530918.1:p.Ile13Met, XP_016858966.1:p.Ile13Met, XP_016858965.1:p.Ile13Met, NP_001309140.1:p.Ile13Met, XP_016858967.1:p.Ile13Met, NP_001309141.1:p.Ile13Met, XP_047299474.1:p.Ile13Met, XP_047299475.1:p.Ile13Met

    2.

    rs1484710382 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:37997466 (GRCh38)
      2:38224609 (GRCh37)
      Canonical SPDI:
      NC_000002.12:37997465:A:G
      Gene:
      RMDN2 (Varview), RMDN2-AS1 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000012/3 (GnomAD_exomes)
      G=0.000021/3 (GnomAD)
      HGVS:
      NC_000002.12:g.37997466A>G, NC_000002.11:g.38224609A>G, NM_144713.5:c.1530A>G, NM_144713.4:c.1530A>G, NM_144713.3:c.1530A>G, XM_011532615.4:c.1530A>G, XM_011532615.3:c.1530A>G, XM_011532615.2:c.1530A>G, XM_011532615.1:c.1530A>G, XM_011532614.4:c.1530A>G, XM_011532614.3:c.1530A>G, XM_011532614.2:c.1530A>G, XM_011532614.1:c.1530A>G, XR_939668.4:n.1692A>G, XR_939668.3:n.1777A>G, XR_939668.2:n.1777A>G, XR_939668.1:n.1646A>G, NM_001170792.3:c.996A>G, NM_001170792.2:c.996A>G, NM_001170792.1:c.996A>G, NM_001170791.3:c.996A>G, NM_001170791.2:c.996A>G, NM_001170791.1:c.996A>G, XM_011532616.3:c.996A>G, XM_011532616.2:c.996A>G, XM_011532616.1:c.996A>G, XM_017003477.3:c.996A>G, XM_017003477.2:c.996A>G, XM_017003477.1:c.996A>G, XM_017003476.3:c.996A>G, XM_017003476.2:c.996A>G, XM_017003476.1:c.996A>G, NM_001170793.3:c.561A>G, NM_001170793.2:c.561A>G, NM_001170793.1:c.561A>G, XM_017003474.2:c.1530A>G, XM_017003474.1:c.1530A>G, NM_001322211.2:c.996A>G, NM_001322211.1:c.996A>G, XM_017003478.2:c.996A>G, XM_017003478.1:c.996A>G, NM_001322212.2:c.996A>G, NM_001322212.1:c.996A>G, XM_047443518.1:c.996A>G, XM_047443520.1:c.561A>G, XM_047443519.1:c.996A>G, XM_047443521.1:c.561A>G

      3.

      rs1484344922 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:38004032 (GRCh38)
        2:38231175 (GRCh37)
        Canonical SPDI:
        NC_000002.12:38004031:G:A
        Gene:
        RMDN2 (Varview), RMDN2-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000002.12:g.38004032G>A, NC_000002.11:g.38231175G>A, NM_144713.5:c.1620G>A, NM_144713.4:c.1620G>A, NM_144713.3:c.1620G>A, XM_011532615.4:c.1620G>A, XM_011532615.3:c.1620G>A, XM_011532615.2:c.1620G>A, XM_011532615.1:c.1620G>A, XM_011532614.4:c.1620G>A, XM_011532614.3:c.1620G>A, XM_011532614.2:c.1620G>A, XM_011532614.1:c.1620G>A, XR_939668.4:n.1934G>A, XR_939668.3:n.2019G>A, XR_939668.2:n.2019G>A, XR_939668.1:n.1888G>A, NM_001170792.3:c.1086G>A, NM_001170792.2:c.1086G>A, NM_001170792.1:c.1086G>A, NM_001170791.3:c.1086G>A, NM_001170791.2:c.1086G>A, NM_001170791.1:c.1086G>A, XM_011532616.3:c.1086G>A, XM_011532616.2:c.1086G>A, XM_011532616.1:c.1086G>A, XM_017003477.3:c.1086G>A, XM_017003477.2:c.1086G>A, XM_017003477.1:c.1086G>A, XM_017003476.3:c.1086G>A, XM_017003476.2:c.1086G>A, XM_017003476.1:c.1086G>A, NM_001170793.3:c.651G>A, NM_001170793.2:c.651G>A, NM_001170793.1:c.651G>A, XM_017003474.2:c.1620G>A, XM_017003474.1:c.1620G>A, NM_001322211.2:c.1086G>A, NM_001322211.1:c.1086G>A, XM_017003478.2:c.1086G>A, XM_017003478.1:c.1086G>A, NM_001322212.2:c.1086G>A, NM_001322212.1:c.1086G>A, XM_047443518.1:c.1086G>A, XM_047443520.1:c.651G>A, XM_047443519.1:c.1086G>A, XM_047443521.1:c.651G>A, NP_653314.3:p.Met540Ile, XP_011530917.2:p.Met540Ile, XP_011530916.1:p.Met540Ile, NP_001164263.1:p.Met362Ile, NP_001164262.1:p.Met362Ile, XP_011530918.1:p.Met362Ile, XP_016858966.1:p.Met362Ile, XP_016858965.1:p.Met362Ile, NP_001164264.1:p.Met217Ile, XP_016858963.1:p.Met540Ile, NP_001309140.1:p.Met362Ile, XP_016858967.1:p.Met362Ile, NP_001309141.1:p.Met362Ile, XP_047299474.1:p.Met362Ile, XP_047299476.1:p.Met217Ile, XP_047299475.1:p.Met362Ile, XP_047299477.1:p.Met217Ile

        4.

        rs1483455138 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:37975247 (GRCh38)
          2:38202390 (GRCh37)
          Canonical SPDI:
          NC_000002.12:37975246:T:C
          Gene:
          RMDN2 (Varview), RMDN2-AS1 (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000015/4 (TOPMED)
          HGVS:
          NC_000002.12:g.37975247T>C, NC_000002.11:g.38202390T>C, NM_144713.5:c.1197T>C, NM_144713.4:c.1197T>C, NM_144713.3:c.1197T>C, XM_011532615.4:c.1197T>C, XM_011532615.3:c.1197T>C, XM_011532615.2:c.1197T>C, XM_011532615.1:c.1197T>C, XM_011532614.4:c.1197T>C, XM_011532614.3:c.1197T>C, XM_011532614.2:c.1197T>C, XM_011532614.1:c.1197T>C, XR_939668.4:n.1359T>C, XR_939668.3:n.1444T>C, XR_939668.2:n.1444T>C, XR_939668.1:n.1313T>C, NM_001170792.3:c.663T>C, NM_001170792.2:c.663T>C, NM_001170792.1:c.663T>C, NM_001170791.3:c.663T>C, NM_001170791.2:c.663T>C, NM_001170791.1:c.663T>C, XM_011532616.3:c.663T>C, XM_011532616.2:c.663T>C, XM_011532616.1:c.663T>C, XM_017003477.3:c.663T>C, XM_017003477.2:c.663T>C, XM_017003477.1:c.663T>C, XM_017003476.3:c.663T>C, XM_017003476.2:c.663T>C, XM_017003476.1:c.663T>C, NM_001170793.3:c.228T>C, NM_001170793.2:c.228T>C, NM_001170793.1:c.228T>C, XM_017003474.2:c.1197T>C, XM_017003474.1:c.1197T>C, NM_001322211.2:c.663T>C, NM_001322211.1:c.663T>C, XM_017003478.2:c.663T>C, XM_017003478.1:c.663T>C, NM_001322212.2:c.663T>C, NM_001322212.1:c.663T>C, XM_047443518.1:c.663T>C, XM_047443520.1:c.228T>C, XM_047443519.1:c.663T>C, XM_047443521.1:c.228T>C

          5.

          rs1483064921 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:37929529 (GRCh38)
            2:38156672 (GRCh37)
            Canonical SPDI:
            NC_000002.12:37929528:A:G
            Gene:
            RMDN2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000006/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1482603561 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              2:37981284 (GRCh38)
              2:38208427 (GRCh37)
              Canonical SPDI:
              NC_000002.12:37981283:AAAAA:AAAA
              Gene:
              RMDN2 (Varview), RMDN2-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAAA=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              NC_000002.12:g.37981288del, NC_000002.11:g.38208431del, NM_144713.5:c.1270del, NM_144713.4:c.1270del, NM_144713.3:c.1270del, XM_011532615.4:c.1270del, XM_011532615.3:c.1270del, XM_011532615.2:c.1270del, XM_011532615.1:c.1270del, XM_011532614.4:c.1270del, XM_011532614.3:c.1270del, XM_011532614.2:c.1270del, XM_011532614.1:c.1270del, XR_939668.4:n.1432del, XR_939668.3:n.1517del, XR_939668.2:n.1517del, XR_939668.1:n.1386del, NM_001170792.3:c.736del, NM_001170792.2:c.736del, NM_001170792.1:c.736del, NM_001170791.3:c.736del, NM_001170791.2:c.736del, NM_001170791.1:c.736del, XM_011532616.3:c.736del, XM_011532616.2:c.736del, XM_011532616.1:c.736del, XM_017003477.3:c.736del, XM_017003477.2:c.736del, XM_017003477.1:c.736del, XM_017003476.3:c.736del, XM_017003476.2:c.736del, XM_017003476.1:c.736del, NM_001170793.3:c.301del, NM_001170793.2:c.301del, NM_001170793.1:c.301del, XM_017003474.2:c.1270del, XM_017003474.1:c.1270del, NM_001322211.2:c.736del, NM_001322211.1:c.736del, XM_017003478.2:c.736del, XM_017003478.1:c.736del, NM_001322212.2:c.736del, NM_001322212.1:c.736del, XM_047443518.1:c.736del, XM_047443520.1:c.301del, XM_047443519.1:c.736del, XM_047443521.1:c.301del, NP_653314.3:p.Thr424fs, XP_011530917.2:p.Thr424fs, XP_011530916.1:p.Thr424fs, NP_001164263.1:p.Thr246fs, NP_001164262.1:p.Thr246fs, XP_011530918.1:p.Thr246fs, XP_016858966.1:p.Thr246fs, XP_016858965.1:p.Thr246fs, NP_001164264.1:p.Thr101fs, XP_016858963.1:p.Thr424fs, NP_001309140.1:p.Thr246fs, XP_016858967.1:p.Thr246fs, NP_001309141.1:p.Thr246fs, XP_047299474.1:p.Thr246fs, XP_047299476.1:p.Thr101fs, XP_047299475.1:p.Thr246fs, XP_047299477.1:p.Thr101fs

              7.

              rs1482156502 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:37929452 (GRCh38)
                2:38156595 (GRCh37)
                Canonical SPDI:
                NC_000002.12:37929451:C:T
                Gene:
                RMDN2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000019/3 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.37929452C>T, NC_000002.11:g.38156595C>T, NM_001170792.3:c.175C>T, NM_001170792.2:c.175C>T, NM_001170792.1:c.175C>T, NM_001170791.3:c.175C>T, NM_001170791.2:c.175C>T, NM_001170791.1:c.175C>T, XM_011532616.3:c.175C>T, XM_011532616.2:c.175C>T, XM_011532616.1:c.175C>T, XM_017003477.3:c.175C>T, XM_017003477.2:c.175C>T, XM_017003477.1:c.175C>T, XM_017003476.3:c.175C>T, XM_017003476.2:c.175C>T, XM_017003476.1:c.175C>T, NM_001322211.2:c.175C>T, NM_001322211.1:c.175C>T, XM_017003478.2:c.175C>T, XM_017003478.1:c.175C>T, NM_001322212.2:c.175C>T, NM_001322212.1:c.175C>T, XM_047443518.1:c.175C>T, XM_047443519.1:c.175C>T, NP_001164263.1:p.His59Tyr, NP_001164262.1:p.His59Tyr, XP_011530918.1:p.His59Tyr, XP_016858966.1:p.His59Tyr, XP_016858965.1:p.His59Tyr, NP_001309140.1:p.His59Tyr, XP_016858967.1:p.His59Tyr, NP_001309141.1:p.His59Tyr, XP_047299474.1:p.His59Tyr, XP_047299475.1:p.His59Tyr

                8.

                rs1478574439 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:37929633 (GRCh38)
                  2:38156776 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:37929632:A:G
                  Gene:
                  RMDN2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.00011/2 (TOMMO)
                  G=0.00055/1 (Korea1K)
                  HGVS:
                  NC_000002.12:g.37929633A>G, NC_000002.11:g.38156776A>G, NM_001170792.3:c.356A>G, NM_001170792.2:c.356A>G, NM_001170792.1:c.356A>G, NM_001170791.3:c.356A>G, NM_001170791.2:c.356A>G, NM_001170791.1:c.356A>G, XM_011532616.3:c.356A>G, XM_011532616.2:c.356A>G, XM_011532616.1:c.356A>G, XM_017003477.3:c.356A>G, XM_017003477.2:c.356A>G, XM_017003477.1:c.356A>G, XM_017003476.3:c.356A>G, XM_017003476.2:c.356A>G, XM_017003476.1:c.356A>G, NM_001322211.2:c.356A>G, NM_001322211.1:c.356A>G, XM_017003478.2:c.356A>G, XM_017003478.1:c.356A>G, NM_001322212.2:c.356A>G, NM_001322212.1:c.356A>G, XM_047443518.1:c.356A>G, XM_047443519.1:c.356A>G, NP_001164263.1:p.Lys119Arg, NP_001164262.1:p.Lys119Arg, XP_011530918.1:p.Lys119Arg, XP_016858966.1:p.Lys119Arg, XP_016858965.1:p.Lys119Arg, NP_001309140.1:p.Lys119Arg, XP_016858967.1:p.Lys119Arg, NP_001309141.1:p.Lys119Arg, XP_047299474.1:p.Lys119Arg, XP_047299475.1:p.Lys119Arg

                  9.

                  rs1475278754 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    2:37989598 (GRCh38)
                    2:38216741 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:37989597:C:G,NC_000002.12:37989597:C:T
                    Gene:
                    RMDN2 (Varview), RMDN2-AS1 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000002.12:g.37989598C>G, NC_000002.12:g.37989598C>T, NC_000002.11:g.38216741C>G, NC_000002.11:g.38216741C>T, NM_144713.5:c.1383C>G, NM_144713.5:c.1383C>T, NM_144713.4:c.1383C>G, NM_144713.4:c.1383C>T, NM_144713.3:c.1383C>G, NM_144713.3:c.1383C>T, XM_011532615.4:c.1383C>G, XM_011532615.4:c.1383C>T, XM_011532615.3:c.1383C>G, XM_011532615.3:c.1383C>T, XM_011532615.2:c.1383C>G, XM_011532615.2:c.1383C>T, XM_011532615.1:c.1383C>G, XM_011532615.1:c.1383C>T, XM_011532614.4:c.1383C>G, XM_011532614.4:c.1383C>T, XM_011532614.3:c.1383C>G, XM_011532614.3:c.1383C>T, XM_011532614.2:c.1383C>G, XM_011532614.2:c.1383C>T, XM_011532614.1:c.1383C>G, XM_011532614.1:c.1383C>T, XR_939668.4:n.1545C>G, XR_939668.4:n.1545C>T, XR_939668.3:n.1630C>G, XR_939668.3:n.1630C>T, XR_939668.2:n.1630C>G, XR_939668.2:n.1630C>T, XR_939668.1:n.1499C>G, XR_939668.1:n.1499C>T, NM_001170792.3:c.849C>G, NM_001170792.3:c.849C>T, NM_001170792.2:c.849C>G, NM_001170792.2:c.849C>T, NM_001170792.1:c.849C>G, NM_001170792.1:c.849C>T, NM_001170791.3:c.849C>G, NM_001170791.3:c.849C>T, NM_001170791.2:c.849C>G, NM_001170791.2:c.849C>T, NM_001170791.1:c.849C>G, NM_001170791.1:c.849C>T, XM_011532616.3:c.849C>G, XM_011532616.3:c.849C>T, XM_011532616.2:c.849C>G, XM_011532616.2:c.849C>T, XM_011532616.1:c.849C>G, XM_011532616.1:c.849C>T, XM_017003477.3:c.849C>G, XM_017003477.3:c.849C>T, XM_017003477.2:c.849C>G, XM_017003477.2:c.849C>T, XM_017003477.1:c.849C>G, XM_017003477.1:c.849C>T, XM_017003476.3:c.849C>G, XM_017003476.3:c.849C>T, XM_017003476.2:c.849C>G, XM_017003476.2:c.849C>T, XM_017003476.1:c.849C>G, XM_017003476.1:c.849C>T, NM_001170793.3:c.414C>G, NM_001170793.3:c.414C>T, NM_001170793.2:c.414C>G, NM_001170793.2:c.414C>T, NM_001170793.1:c.414C>G, NM_001170793.1:c.414C>T, XM_017003474.2:c.1383C>G, XM_017003474.2:c.1383C>T, XM_017003474.1:c.1383C>G, XM_017003474.1:c.1383C>T, NM_001322211.2:c.849C>G, NM_001322211.2:c.849C>T, NM_001322211.1:c.849C>G, NM_001322211.1:c.849C>T, XM_017003478.2:c.849C>G, XM_017003478.2:c.849C>T, XM_017003478.1:c.849C>G, XM_017003478.1:c.849C>T, NM_001322212.2:c.849C>G, NM_001322212.2:c.849C>T, NM_001322212.1:c.849C>G, NM_001322212.1:c.849C>T, XM_047443518.1:c.849C>G, XM_047443518.1:c.849C>T, XM_047443520.1:c.414C>G, XM_047443520.1:c.414C>T, XM_047443519.1:c.849C>G, XM_047443519.1:c.849C>T, XM_047443521.1:c.414C>G, XM_047443521.1:c.414C>T, NP_653314.3:p.Asn461Lys, XP_011530917.2:p.Asn461Lys, XP_011530916.1:p.Asn461Lys, NP_001164263.1:p.Asn283Lys, NP_001164262.1:p.Asn283Lys, XP_011530918.1:p.Asn283Lys, XP_016858966.1:p.Asn283Lys, XP_016858965.1:p.Asn283Lys, NP_001164264.1:p.Asn138Lys, XP_016858963.1:p.Asn461Lys, NP_001309140.1:p.Asn283Lys, XP_016858967.1:p.Asn283Lys, NP_001309141.1:p.Asn283Lys, XP_047299474.1:p.Asn283Lys, XP_047299476.1:p.Asn138Lys, XP_047299475.1:p.Asn283Lys, XP_047299477.1:p.Asn138Lys

                    10.

                    rs1474448392 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:37974144 (GRCh38)
                      2:38201287 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:37974143:T:C
                      Gene:
                      RMDN2 (Varview), RMDN2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000224/1 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000223/1 (Estonian)
                      HGVS:
                      NC_000002.12:g.37974144T>C, NC_000002.11:g.38201287T>C, NM_144713.5:c.1091T>C, NM_144713.4:c.1091T>C, NM_144713.3:c.1091T>C, XM_011532615.4:c.1091T>C, XM_011532615.3:c.1091T>C, XM_011532615.2:c.1091T>C, XM_011532615.1:c.1091T>C, XM_011532614.4:c.1091T>C, XM_011532614.3:c.1091T>C, XM_011532614.2:c.1091T>C, XM_011532614.1:c.1091T>C, XR_939668.4:n.1253T>C, XR_939668.3:n.1338T>C, XR_939668.2:n.1338T>C, XR_939668.1:n.1207T>C, NM_001170792.3:c.557T>C, NM_001170792.2:c.557T>C, NM_001170792.1:c.557T>C, NM_001170791.3:c.557T>C, NM_001170791.2:c.557T>C, NM_001170791.1:c.557T>C, XM_011532616.3:c.557T>C, XM_011532616.2:c.557T>C, XM_011532616.1:c.557T>C, XM_017003477.3:c.557T>C, XM_017003477.2:c.557T>C, XM_017003477.1:c.557T>C, XM_017003476.3:c.557T>C, XM_017003476.2:c.557T>C, XM_017003476.1:c.557T>C, NM_001170793.3:c.122T>C, NM_001170793.2:c.122T>C, NM_001170793.1:c.122T>C, XM_017003474.2:c.1091T>C, XM_017003474.1:c.1091T>C, NM_001322211.2:c.557T>C, NM_001322211.1:c.557T>C, XM_017003478.2:c.557T>C, XM_017003478.1:c.557T>C, NM_001322212.2:c.557T>C, NM_001322212.1:c.557T>C, XM_047443518.1:c.557T>C, XM_047443520.1:c.122T>C, XM_047443519.1:c.557T>C, XM_047443521.1:c.122T>C, NP_653314.3:p.Val364Ala, XP_011530917.2:p.Val364Ala, XP_011530916.1:p.Val364Ala, NP_001164263.1:p.Val186Ala, NP_001164262.1:p.Val186Ala, XP_011530918.1:p.Val186Ala, XP_016858966.1:p.Val186Ala, XP_016858965.1:p.Val186Ala, NP_001164264.1:p.Val41Ala, XP_016858963.1:p.Val364Ala, NP_001309140.1:p.Val186Ala, XP_016858967.1:p.Val186Ala, NP_001309141.1:p.Val186Ala, XP_047299474.1:p.Val186Ala, XP_047299476.1:p.Val41Ala, XP_047299475.1:p.Val186Ala, XP_047299477.1:p.Val41Ala

                      11.

                      rs1473279092 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:37974170 (GRCh38)
                        2:38201313 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:37974169:G:A
                        Gene:
                        RMDN2 (Varview), RMDN2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000066/1 (ALFA)
                        A=0.000021/3 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        NC_000002.12:g.37974170G>A, NC_000002.11:g.38201313G>A, NM_144713.5:c.1117G>A, NM_144713.4:c.1117G>A, NM_144713.3:c.1117G>A, XM_011532615.4:c.1117G>A, XM_011532615.3:c.1117G>A, XM_011532615.2:c.1117G>A, XM_011532615.1:c.1117G>A, XM_011532614.4:c.1117G>A, XM_011532614.3:c.1117G>A, XM_011532614.2:c.1117G>A, XM_011532614.1:c.1117G>A, XR_939668.4:n.1279G>A, XR_939668.3:n.1364G>A, XR_939668.2:n.1364G>A, XR_939668.1:n.1233G>A, NM_001170792.3:c.583G>A, NM_001170792.2:c.583G>A, NM_001170792.1:c.583G>A, NM_001170791.3:c.583G>A, NM_001170791.2:c.583G>A, NM_001170791.1:c.583G>A, XM_011532616.3:c.583G>A, XM_011532616.2:c.583G>A, XM_011532616.1:c.583G>A, XM_017003477.3:c.583G>A, XM_017003477.2:c.583G>A, XM_017003477.1:c.583G>A, XM_017003476.3:c.583G>A, XM_017003476.2:c.583G>A, XM_017003476.1:c.583G>A, NM_001170793.3:c.148G>A, NM_001170793.2:c.148G>A, NM_001170793.1:c.148G>A, XM_017003474.2:c.1117G>A, XM_017003474.1:c.1117G>A, NM_001322211.2:c.583G>A, NM_001322211.1:c.583G>A, XM_017003478.2:c.583G>A, XM_017003478.1:c.583G>A, NM_001322212.2:c.583G>A, NM_001322212.1:c.583G>A, XM_047443518.1:c.583G>A, XM_047443520.1:c.148G>A, XM_047443519.1:c.583G>A, XM_047443521.1:c.148G>A, NP_653314.3:p.Gly373Ser, XP_011530917.2:p.Gly373Ser, XP_011530916.1:p.Gly373Ser, NP_001164263.1:p.Gly195Ser, NP_001164262.1:p.Gly195Ser, XP_011530918.1:p.Gly195Ser, XP_016858966.1:p.Gly195Ser, XP_016858965.1:p.Gly195Ser, NP_001164264.1:p.Gly50Ser, XP_016858963.1:p.Gly373Ser, NP_001309140.1:p.Gly195Ser, XP_016858967.1:p.Gly195Ser, NP_001309141.1:p.Gly195Ser, XP_047299474.1:p.Gly195Ser, XP_047299476.1:p.Gly50Ser, XP_047299475.1:p.Gly195Ser, XP_047299477.1:p.Gly50Ser

                        12.

                        rs1471754142 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          2:37929361 (GRCh38)
                          2:38156504 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:37929360:C:G,NC_000002.12:37929360:C:T
                          Gene:
                          RMDN2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,synonymous_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000031/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000051/8 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.37929361C>G, NC_000002.12:g.37929361C>T, NC_000002.11:g.38156504C>G, NC_000002.11:g.38156504C>T, NM_001170792.3:c.84C>G, NM_001170792.3:c.84C>T, NM_001170792.2:c.84C>G, NM_001170792.2:c.84C>T, NM_001170792.1:c.84C>G, NM_001170792.1:c.84C>T, NM_001170791.3:c.84C>G, NM_001170791.3:c.84C>T, NM_001170791.2:c.84C>G, NM_001170791.2:c.84C>T, NM_001170791.1:c.84C>G, NM_001170791.1:c.84C>T, XM_011532616.3:c.84C>G, XM_011532616.3:c.84C>T, XM_011532616.2:c.84C>G, XM_011532616.2:c.84C>T, XM_011532616.1:c.84C>G, XM_011532616.1:c.84C>T, XM_017003477.3:c.84C>G, XM_017003477.3:c.84C>T, XM_017003477.2:c.84C>G, XM_017003477.2:c.84C>T, XM_017003477.1:c.84C>G, XM_017003477.1:c.84C>T, XM_017003476.3:c.84C>G, XM_017003476.3:c.84C>T, XM_017003476.2:c.84C>G, XM_017003476.2:c.84C>T, XM_017003476.1:c.84C>G, XM_017003476.1:c.84C>T, NM_001322211.2:c.84C>G, NM_001322211.2:c.84C>T, NM_001322211.1:c.84C>G, NM_001322211.1:c.84C>T, XM_017003478.2:c.84C>G, XM_017003478.2:c.84C>T, XM_017003478.1:c.84C>G, XM_017003478.1:c.84C>T, NM_001322212.2:c.84C>G, NM_001322212.2:c.84C>T, NM_001322212.1:c.84C>G, NM_001322212.1:c.84C>T, XM_047443518.1:c.84C>G, XM_047443518.1:c.84C>T, XM_047443519.1:c.84C>G, XM_047443519.1:c.84C>T, NP_001164263.1:p.His28Gln, NP_001164262.1:p.His28Gln, XP_011530918.1:p.His28Gln, XP_016858966.1:p.His28Gln, XP_016858965.1:p.His28Gln, NP_001309140.1:p.His28Gln, XP_016858967.1:p.His28Gln, NP_001309141.1:p.His28Gln, XP_047299474.1:p.His28Gln, XP_047299475.1:p.His28Gln

                          13.

                          rs1465551205 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            2:37975306 (GRCh38)
                            2:38202449 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:37975305:C:G
                            Gene:
                            RMDN2 (Varview), RMDN2-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.37975306C>G, NC_000002.11:g.38202449C>G, NM_144713.5:c.1256C>G, NM_144713.4:c.1256C>G, NM_144713.3:c.1256C>G, XM_011532615.4:c.1256C>G, XM_011532615.3:c.1256C>G, XM_011532615.2:c.1256C>G, XM_011532615.1:c.1256C>G, XM_011532614.4:c.1256C>G, XM_011532614.3:c.1256C>G, XM_011532614.2:c.1256C>G, XM_011532614.1:c.1256C>G, XR_939668.4:n.1418C>G, XR_939668.3:n.1503C>G, XR_939668.2:n.1503C>G, XR_939668.1:n.1372C>G, NM_001170792.3:c.722C>G, NM_001170792.2:c.722C>G, NM_001170792.1:c.722C>G, NM_001170791.3:c.722C>G, NM_001170791.2:c.722C>G, NM_001170791.1:c.722C>G, XM_011532616.3:c.722C>G, XM_011532616.2:c.722C>G, XM_011532616.1:c.722C>G, XM_017003477.3:c.722C>G, XM_017003477.2:c.722C>G, XM_017003477.1:c.722C>G, XM_017003476.3:c.722C>G, XM_017003476.2:c.722C>G, XM_017003476.1:c.722C>G, NM_001170793.3:c.287C>G, NM_001170793.2:c.287C>G, NM_001170793.1:c.287C>G, XM_017003474.2:c.1256C>G, XM_017003474.1:c.1256C>G, NM_001322211.2:c.722C>G, NM_001322211.1:c.722C>G, XM_017003478.2:c.722C>G, XM_017003478.1:c.722C>G, NM_001322212.2:c.722C>G, NM_001322212.1:c.722C>G, XM_047443518.1:c.722C>G, XM_047443520.1:c.287C>G, XM_047443519.1:c.722C>G, XM_047443521.1:c.287C>G, NP_653314.3:p.Ala419Gly, XP_011530917.2:p.Ala419Gly, XP_011530916.1:p.Ala419Gly, NP_001164263.1:p.Ala241Gly, NP_001164262.1:p.Ala241Gly, XP_011530918.1:p.Ala241Gly, XP_016858966.1:p.Ala241Gly, XP_016858965.1:p.Ala241Gly, NP_001164264.1:p.Ala96Gly, XP_016858963.1:p.Ala419Gly, NP_001309140.1:p.Ala241Gly, XP_016858967.1:p.Ala241Gly, NP_001309141.1:p.Ala241Gly, XP_047299474.1:p.Ala241Gly, XP_047299476.1:p.Ala96Gly, XP_047299475.1:p.Ala241Gly, XP_047299477.1:p.Ala96Gly

                            14.

                            rs1462105942 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              2:37929542 (GRCh38)
                              2:38156685 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:37929541:C:A
                              Gene:
                              RMDN2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.37929542C>A, NC_000002.11:g.38156685C>A, NM_001170792.3:c.265C>A, NM_001170792.2:c.265C>A, NM_001170792.1:c.265C>A, NM_001170791.3:c.265C>A, NM_001170791.2:c.265C>A, NM_001170791.1:c.265C>A, XM_011532616.3:c.265C>A, XM_011532616.2:c.265C>A, XM_011532616.1:c.265C>A, XM_017003477.3:c.265C>A, XM_017003477.2:c.265C>A, XM_017003477.1:c.265C>A, XM_017003476.3:c.265C>A, XM_017003476.2:c.265C>A, XM_017003476.1:c.265C>A, NM_001322211.2:c.265C>A, NM_001322211.1:c.265C>A, XM_017003478.2:c.265C>A, XM_017003478.1:c.265C>A, NM_001322212.2:c.265C>A, NM_001322212.1:c.265C>A, XM_047443518.1:c.265C>A, XM_047443519.1:c.265C>A, NP_001164263.1:p.Leu89Ile, NP_001164262.1:p.Leu89Ile, XP_011530918.1:p.Leu89Ile, XP_016858966.1:p.Leu89Ile, XP_016858965.1:p.Leu89Ile, NP_001309140.1:p.Leu89Ile, XP_016858967.1:p.Leu89Ile, NP_001309141.1:p.Leu89Ile, XP_047299474.1:p.Leu89Ile, XP_047299475.1:p.Leu89Ile

                              15.

                              rs1456681290 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:37989564 (GRCh38)
                                2:38216707 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:37989563:T:C
                                Gene:
                                RMDN2 (Varview), RMDN2-AS1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000043/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.37989564T>C, NC_000002.11:g.38216707T>C, NM_144713.5:c.1349T>C, NM_144713.4:c.1349T>C, NM_144713.3:c.1349T>C, XM_011532615.4:c.1349T>C, XM_011532615.3:c.1349T>C, XM_011532615.2:c.1349T>C, XM_011532615.1:c.1349T>C, XM_011532614.4:c.1349T>C, XM_011532614.3:c.1349T>C, XM_011532614.2:c.1349T>C, XM_011532614.1:c.1349T>C, XR_939668.4:n.1511T>C, XR_939668.3:n.1596T>C, XR_939668.2:n.1596T>C, XR_939668.1:n.1465T>C, NM_001170792.3:c.815T>C, NM_001170792.2:c.815T>C, NM_001170792.1:c.815T>C, NM_001170791.3:c.815T>C, NM_001170791.2:c.815T>C, NM_001170791.1:c.815T>C, XM_011532616.3:c.815T>C, XM_011532616.2:c.815T>C, XM_011532616.1:c.815T>C, XM_017003477.3:c.815T>C, XM_017003477.2:c.815T>C, XM_017003477.1:c.815T>C, XM_017003476.3:c.815T>C, XM_017003476.2:c.815T>C, XM_017003476.1:c.815T>C, NM_001170793.3:c.380T>C, NM_001170793.2:c.380T>C, NM_001170793.1:c.380T>C, XM_017003474.2:c.1349T>C, XM_017003474.1:c.1349T>C, NM_001322211.2:c.815T>C, NM_001322211.1:c.815T>C, XM_017003478.2:c.815T>C, XM_017003478.1:c.815T>C, NM_001322212.2:c.815T>C, NM_001322212.1:c.815T>C, XM_047443518.1:c.815T>C, XM_047443520.1:c.380T>C, XM_047443519.1:c.815T>C, XM_047443521.1:c.380T>C, NP_653314.3:p.Val450Ala, XP_011530917.2:p.Val450Ala, XP_011530916.1:p.Val450Ala, NP_001164263.1:p.Val272Ala, NP_001164262.1:p.Val272Ala, XP_011530918.1:p.Val272Ala, XP_016858966.1:p.Val272Ala, XP_016858965.1:p.Val272Ala, NP_001164264.1:p.Val127Ala, XP_016858963.1:p.Val450Ala, NP_001309140.1:p.Val272Ala, XP_016858967.1:p.Val272Ala, NP_001309141.1:p.Val272Ala, XP_047299474.1:p.Val272Ala, XP_047299476.1:p.Val127Ala, XP_047299475.1:p.Val272Ala, XP_047299477.1:p.Val127Ala

                                16.

                                rs1456217382 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  2:37929653 (GRCh38)
                                  2:38156796 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:37929652:G:A,NC_000002.12:37929652:G:T
                                  Gene:
                                  RMDN2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000014/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.37929653G>A, NC_000002.12:g.37929653G>T, NC_000002.11:g.38156796G>A, NC_000002.11:g.38156796G>T, NM_001170792.3:c.376G>A, NM_001170792.3:c.376G>T, NM_001170792.2:c.376G>A, NM_001170792.2:c.376G>T, NM_001170792.1:c.376G>A, NM_001170792.1:c.376G>T, NM_001170791.3:c.376G>A, NM_001170791.3:c.376G>T, NM_001170791.2:c.376G>A, NM_001170791.2:c.376G>T, NM_001170791.1:c.376G>A, NM_001170791.1:c.376G>T, XM_011532616.3:c.376G>A, XM_011532616.3:c.376G>T, XM_011532616.2:c.376G>A, XM_011532616.2:c.376G>T, XM_011532616.1:c.376G>A, XM_011532616.1:c.376G>T, XM_017003477.3:c.376G>A, XM_017003477.3:c.376G>T, XM_017003477.2:c.376G>A, XM_017003477.2:c.376G>T, XM_017003477.1:c.376G>A, XM_017003477.1:c.376G>T, XM_017003476.3:c.376G>A, XM_017003476.3:c.376G>T, XM_017003476.2:c.376G>A, XM_017003476.2:c.376G>T, XM_017003476.1:c.376G>A, XM_017003476.1:c.376G>T, NM_001322211.2:c.376G>A, NM_001322211.2:c.376G>T, NM_001322211.1:c.376G>A, NM_001322211.1:c.376G>T, XM_017003478.2:c.376G>A, XM_017003478.2:c.376G>T, XM_017003478.1:c.376G>A, XM_017003478.1:c.376G>T, NM_001322212.2:c.376G>A, NM_001322212.2:c.376G>T, NM_001322212.1:c.376G>A, NM_001322212.1:c.376G>T, XM_047443518.1:c.376G>A, XM_047443518.1:c.376G>T, XM_047443519.1:c.376G>A, XM_047443519.1:c.376G>T, NP_001164263.1:p.Ala126Thr, NP_001164263.1:p.Ala126Ser, NP_001164262.1:p.Ala126Thr, NP_001164262.1:p.Ala126Ser, XP_011530918.1:p.Ala126Thr, XP_011530918.1:p.Ala126Ser, XP_016858966.1:p.Ala126Thr, XP_016858966.1:p.Ala126Ser, XP_016858965.1:p.Ala126Thr, XP_016858965.1:p.Ala126Ser, NP_001309140.1:p.Ala126Thr, NP_001309140.1:p.Ala126Ser, XP_016858967.1:p.Ala126Thr, XP_016858967.1:p.Ala126Ser, NP_001309141.1:p.Ala126Thr, NP_001309141.1:p.Ala126Ser, XP_047299474.1:p.Ala126Thr, XP_047299474.1:p.Ala126Ser, XP_047299475.1:p.Ala126Thr, XP_047299475.1:p.Ala126Ser

                                  17.

                                  rs1455692634 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CAAA>- [Show Flanks]
                                    Chromosome:
                                    2:37929295 (GRCh38)
                                    2:38156438 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:37929289:ACAAACAAA:ACAAA
                                    Gene:
                                    RMDN2 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACAAA=0./0 (ALFA)
                                    -=0.000008/1 (GnomAD_exomes)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.37929291CAAA[1], NC_000002.11:g.38156434CAAA[1], NM_001170792.3:c.18_21del, NM_001170792.2:c.18_21del, NM_001170792.1:c.18_21del, NM_001170791.3:c.18_21del, NM_001170791.2:c.18_21del, NM_001170791.1:c.18_21del, XM_011532616.3:c.18_21del, XM_011532616.2:c.18_21del, XM_011532616.1:c.18_21del, XM_017003477.3:c.18_21del, XM_017003477.2:c.18_21del, XM_017003477.1:c.18_21del, XM_017003476.3:c.18_21del, XM_017003476.2:c.18_21del, XM_017003476.1:c.18_21del, NM_001322211.2:c.18_21del, NM_001322211.1:c.18_21del, XM_017003478.2:c.18_21del, XM_017003478.1:c.18_21del, NM_001322212.2:c.18_21del, NM_001322212.1:c.18_21del, XM_047443518.1:c.18_21del, XM_047443519.1:c.18_21del, NP_001164263.1:p.Asn6fs, NP_001164262.1:p.Asn6fs, XP_011530918.1:p.Asn6fs, XP_016858966.1:p.Asn6fs, XP_016858965.1:p.Asn6fs, NP_001309140.1:p.Asn6fs, XP_016858967.1:p.Asn6fs, NP_001309141.1:p.Asn6fs, XP_047299474.1:p.Asn6fs, XP_047299475.1:p.Asn6fs

                                    18.

                                    rs1451695189 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:37929549 (GRCh38)
                                      2:38156692 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:37929548:A:G
                                      Gene:
                                      RMDN2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.37929549A>G, NC_000002.11:g.38156692A>G, NM_001170792.3:c.272A>G, NM_001170792.2:c.272A>G, NM_001170792.1:c.272A>G, NM_001170791.3:c.272A>G, NM_001170791.2:c.272A>G, NM_001170791.1:c.272A>G, XM_011532616.3:c.272A>G, XM_011532616.2:c.272A>G, XM_011532616.1:c.272A>G, XM_017003477.3:c.272A>G, XM_017003477.2:c.272A>G, XM_017003477.1:c.272A>G, XM_017003476.3:c.272A>G, XM_017003476.2:c.272A>G, XM_017003476.1:c.272A>G, NM_001322211.2:c.272A>G, NM_001322211.1:c.272A>G, XM_017003478.2:c.272A>G, XM_017003478.1:c.272A>G, NM_001322212.2:c.272A>G, NM_001322212.1:c.272A>G, XM_047443518.1:c.272A>G, XM_047443519.1:c.272A>G, NP_001164263.1:p.Glu91Gly, NP_001164262.1:p.Glu91Gly, XP_011530918.1:p.Glu91Gly, XP_016858966.1:p.Glu91Gly, XP_016858965.1:p.Glu91Gly, NP_001309140.1:p.Glu91Gly, XP_016858967.1:p.Glu91Gly, NP_001309141.1:p.Glu91Gly, XP_047299474.1:p.Glu91Gly, XP_047299475.1:p.Glu91Gly

                                      19.

                                      rs1448638612 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:37974073 (GRCh38)
                                        2:38201216 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:37974072:G:C
                                        Gene:
                                        RMDN2 (Varview), RMDN2-AS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.37974073G>C, NC_000002.11:g.38201216G>C, NM_144713.5:c.1020G>C, NM_144713.4:c.1020G>C, NM_144713.3:c.1020G>C, XM_011532615.4:c.1020G>C, XM_011532615.3:c.1020G>C, XM_011532615.2:c.1020G>C, XM_011532615.1:c.1020G>C, XM_011532614.4:c.1020G>C, XM_011532614.3:c.1020G>C, XM_011532614.2:c.1020G>C, XM_011532614.1:c.1020G>C, XR_939668.4:n.1182G>C, XR_939668.3:n.1267G>C, XR_939668.2:n.1267G>C, XR_939668.1:n.1136G>C, NM_001170792.3:c.486G>C, NM_001170792.2:c.486G>C, NM_001170792.1:c.486G>C, NM_001170791.3:c.486G>C, NM_001170791.2:c.486G>C, NM_001170791.1:c.486G>C, XM_011532616.3:c.486G>C, XM_011532616.2:c.486G>C, XM_011532616.1:c.486G>C, XM_017003477.3:c.486G>C, XM_017003477.2:c.486G>C, XM_017003477.1:c.486G>C, XM_017003476.3:c.486G>C, XM_017003476.2:c.486G>C, XM_017003476.1:c.486G>C, NM_001170793.3:c.51G>C, NM_001170793.2:c.51G>C, NM_001170793.1:c.51G>C, XM_017003474.2:c.1020G>C, XM_017003474.1:c.1020G>C, NM_001322211.2:c.486G>C, NM_001322211.1:c.486G>C, XM_017003478.2:c.486G>C, XM_017003478.1:c.486G>C, NM_001322212.2:c.486G>C, NM_001322212.1:c.486G>C, XM_047443518.1:c.486G>C, XM_047443520.1:c.51G>C, XM_047443519.1:c.486G>C, XM_047443521.1:c.51G>C, NP_653314.3:p.Gln340His, XP_011530917.2:p.Gln340His, XP_011530916.1:p.Gln340His, NP_001164263.1:p.Gln162His, NP_001164262.1:p.Gln162His, XP_011530918.1:p.Gln162His, XP_016858966.1:p.Gln162His, XP_016858965.1:p.Gln162His, NP_001164264.1:p.Gln17His, XP_016858963.1:p.Gln340His, NP_001309140.1:p.Gln162His, XP_016858967.1:p.Gln162His, NP_001309141.1:p.Gln162His, XP_047299474.1:p.Gln162His, XP_047299476.1:p.Gln17His, XP_047299475.1:p.Gln162His, XP_047299477.1:p.Gln17His

                                        20.

                                        rs1446574796 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          2:37974100 (GRCh38)
                                          2:38201243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:37974099:C:G,NC_000002.12:37974099:C:T
                                          Gene:
                                          RMDN2 (Varview), RMDN2-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000002.12:g.37974100C>G, NC_000002.12:g.37974100C>T, NC_000002.11:g.38201243C>G, NC_000002.11:g.38201243C>T, NM_144713.5:c.1047C>G, NM_144713.5:c.1047C>T, NM_144713.4:c.1047C>G, NM_144713.4:c.1047C>T, NM_144713.3:c.1047C>G, NM_144713.3:c.1047C>T, XM_011532615.4:c.1047C>G, XM_011532615.4:c.1047C>T, XM_011532615.3:c.1047C>G, XM_011532615.3:c.1047C>T, XM_011532615.2:c.1047C>G, XM_011532615.2:c.1047C>T, XM_011532615.1:c.1047C>G, XM_011532615.1:c.1047C>T, XM_011532614.4:c.1047C>G, XM_011532614.4:c.1047C>T, XM_011532614.3:c.1047C>G, XM_011532614.3:c.1047C>T, XM_011532614.2:c.1047C>G, XM_011532614.2:c.1047C>T, XM_011532614.1:c.1047C>G, XM_011532614.1:c.1047C>T, XR_939668.4:n.1209C>G, XR_939668.4:n.1209C>T, XR_939668.3:n.1294C>G, XR_939668.3:n.1294C>T, XR_939668.2:n.1294C>G, XR_939668.2:n.1294C>T, XR_939668.1:n.1163C>G, XR_939668.1:n.1163C>T, NM_001170792.3:c.513C>G, NM_001170792.3:c.513C>T, NM_001170792.2:c.513C>G, NM_001170792.2:c.513C>T, NM_001170792.1:c.513C>G, NM_001170792.1:c.513C>T, NM_001170791.3:c.513C>G, NM_001170791.3:c.513C>T, NM_001170791.2:c.513C>G, NM_001170791.2:c.513C>T, NM_001170791.1:c.513C>G, NM_001170791.1:c.513C>T, XM_011532616.3:c.513C>G, XM_011532616.3:c.513C>T, XM_011532616.2:c.513C>G, XM_011532616.2:c.513C>T, XM_011532616.1:c.513C>G, XM_011532616.1:c.513C>T, XM_017003477.3:c.513C>G, XM_017003477.3:c.513C>T, XM_017003477.2:c.513C>G, XM_017003477.2:c.513C>T, XM_017003477.1:c.513C>G, XM_017003477.1:c.513C>T, XM_017003476.3:c.513C>G, XM_017003476.3:c.513C>T, XM_017003476.2:c.513C>G, XM_017003476.2:c.513C>T, XM_017003476.1:c.513C>G, XM_017003476.1:c.513C>T, NM_001170793.3:c.78C>G, NM_001170793.3:c.78C>T, NM_001170793.2:c.78C>G, NM_001170793.2:c.78C>T, NM_001170793.1:c.78C>G, NM_001170793.1:c.78C>T, XM_017003474.2:c.1047C>G, XM_017003474.2:c.1047C>T, XM_017003474.1:c.1047C>G, XM_017003474.1:c.1047C>T, NM_001322211.2:c.513C>G, NM_001322211.2:c.513C>T, NM_001322211.1:c.513C>G, NM_001322211.1:c.513C>T, XM_017003478.2:c.513C>G, XM_017003478.2:c.513C>T, XM_017003478.1:c.513C>G, XM_017003478.1:c.513C>T, NM_001322212.2:c.513C>G, NM_001322212.2:c.513C>T, NM_001322212.1:c.513C>G, NM_001322212.1:c.513C>T, XM_047443518.1:c.513C>G, XM_047443518.1:c.513C>T, XM_047443520.1:c.78C>G, XM_047443520.1:c.78C>T, XM_047443519.1:c.513C>G, XM_047443519.1:c.513C>T, XM_047443521.1:c.78C>G, XM_047443521.1:c.78C>T, NP_653314.3:p.Asn349Lys, XP_011530917.2:p.Asn349Lys, XP_011530916.1:p.Asn349Lys, NP_001164263.1:p.Asn171Lys, NP_001164262.1:p.Asn171Lys, XP_011530918.1:p.Asn171Lys, XP_016858966.1:p.Asn171Lys, XP_016858965.1:p.Asn171Lys, NP_001164264.1:p.Asn26Lys, XP_016858963.1:p.Asn349Lys, NP_001309140.1:p.Asn171Lys, XP_016858967.1:p.Asn171Lys, NP_001309141.1:p.Asn171Lys, XP_047299474.1:p.Asn171Lys, XP_047299476.1:p.Asn26Lys, XP_047299475.1:p.Asn171Lys, XP_047299477.1:p.Asn26Lys

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