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Links from Protein

Items: 1 to 20 of 248

1.

rs1488858285 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    9:93084681 (GRCh38)
    9:95846963 (GRCh37)
    Canonical SPDI:
    NC_000009.12:93084680:G:
    Gene:
    SUSD3 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.93084681del, NC_000009.11:g.95846963del, NM_145006.4:c.702del, NM_145006.3:c.702del, NM_145006.2:c.702del, XM_017014451.3:c.636del, XM_017014451.2:c.636del, XM_017014451.1:c.636del, XM_011518358.2:c.663del, XM_011518358.1:c.663del, XM_011518359.2:c.663del, XM_011518359.1:c.663del, XM_011518362.2:c.531del, XM_011518362.1:c.531del, XM_017014450.2:c.663del, XM_017014450.1:c.663del, NM_001287005.2:c.663del, NM_001287005.1:c.663del, NM_001287006.2:c.570del, NM_001287006.1:c.570del, NM_001287008.2:c.513del, NM_001287008.1:c.513del, NM_001287007.2:c.381del, NM_001287007.1:c.381del, XM_047422942.1:c.663del, XM_047422941.1:c.663del, XM_047422943.1:c.663del, NP_659443.1:p.Gln234fs, XP_016869940.1:p.Gln212fs, XP_011516660.1:p.Gln221fs, XP_011516661.1:p.Gln221fs, XP_011516664.1:p.Gln177fs, XP_016869939.1:p.Gln221fs, NP_001273934.1:p.Gln221fs, NP_001273935.1:p.Gln190fs, NP_001273937.1:p.Gln171fs, NP_001273936.1:p.Gln127fs, XP_047278898.1:p.Gln221fs, XP_047278897.1:p.Gln221fs, XP_047278899.1:p.Gln221fs

    2.

    rs1481690262 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      9:93084626 (GRCh38)
      9:95846908 (GRCh37)
      Canonical SPDI:
      NC_000009.12:93084625:G:A,NC_000009.12:93084625:G:T
      Gene:
      SUSD3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000009.12:g.93084626G>A, NC_000009.12:g.93084626G>T, NC_000009.11:g.95846908G>A, NC_000009.11:g.95846908G>T, NM_145006.4:c.647G>A, NM_145006.4:c.647G>T, NM_145006.3:c.647G>A, NM_145006.3:c.647G>T, NM_145006.2:c.647G>A, NM_145006.2:c.647G>T, XM_017014451.3:c.581G>A, XM_017014451.3:c.581G>T, XM_017014451.2:c.581G>A, XM_017014451.2:c.581G>T, XM_017014451.1:c.581G>A, XM_017014451.1:c.581G>T, XM_011518358.2:c.608G>A, XM_011518358.2:c.608G>T, XM_011518358.1:c.608G>A, XM_011518358.1:c.608G>T, XM_011518359.2:c.608G>A, XM_011518359.2:c.608G>T, XM_011518359.1:c.608G>A, XM_011518359.1:c.608G>T, XM_011518362.2:c.476G>A, XM_011518362.2:c.476G>T, XM_011518362.1:c.476G>A, XM_011518362.1:c.476G>T, XM_017014450.2:c.608G>A, XM_017014450.2:c.608G>T, XM_017014450.1:c.608G>A, XM_017014450.1:c.608G>T, NM_001287005.2:c.608G>A, NM_001287005.2:c.608G>T, NM_001287005.1:c.608G>A, NM_001287005.1:c.608G>T, NM_001287006.2:c.515G>A, NM_001287006.2:c.515G>T, NM_001287006.1:c.515G>A, NM_001287006.1:c.515G>T, NM_001287008.2:c.458G>A, NM_001287008.2:c.458G>T, NM_001287008.1:c.458G>A, NM_001287008.1:c.458G>T, NM_001287007.2:c.326G>A, NM_001287007.2:c.326G>T, NM_001287007.1:c.326G>A, NM_001287007.1:c.326G>T, XM_047422942.1:c.608G>A, XM_047422942.1:c.608G>T, XM_047422941.1:c.608G>A, XM_047422941.1:c.608G>T, XM_047422943.1:c.608G>A, XM_047422943.1:c.608G>T, NP_659443.1:p.Gly216Asp, NP_659443.1:p.Gly216Val, XP_016869940.1:p.Gly194Asp, XP_016869940.1:p.Gly194Val, XP_011516660.1:p.Gly203Asp, XP_011516660.1:p.Gly203Val, XP_011516661.1:p.Gly203Asp, XP_011516661.1:p.Gly203Val, XP_011516664.1:p.Gly159Asp, XP_011516664.1:p.Gly159Val, XP_016869939.1:p.Gly203Asp, XP_016869939.1:p.Gly203Val, NP_001273934.1:p.Gly203Asp, NP_001273934.1:p.Gly203Val, NP_001273935.1:p.Gly172Asp, NP_001273935.1:p.Gly172Val, NP_001273937.1:p.Gly153Asp, NP_001273937.1:p.Gly153Val, NP_001273936.1:p.Gly109Asp, NP_001273936.1:p.Gly109Val, XP_047278898.1:p.Gly203Asp, XP_047278898.1:p.Gly203Val, XP_047278897.1:p.Gly203Asp, XP_047278897.1:p.Gly203Val, XP_047278899.1:p.Gly203Asp, XP_047278899.1:p.Gly203Val

      3.

      rs1479994894 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:93084687 (GRCh38)
        9:95846969 (GRCh37)
        Canonical SPDI:
        NC_000009.12:93084686:G:A
        Gene:
        SUSD3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1478385644 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          9:93079580 (GRCh38)
          9:95841862 (GRCh37)
          Canonical SPDI:
          NC_000009.12:93079579:C:A,NC_000009.12:93079579:C:T
          Gene:
          SUSD3 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000342/1 (KOREAN)
          HGVS:
          NC_000009.12:g.93079580C>A, NC_000009.12:g.93079580C>T, NC_000009.11:g.95841862C>A, NC_000009.11:g.95841862C>T, NM_145006.4:c.535C>A, NM_145006.4:c.535C>T, NM_145006.3:c.535C>A, NM_145006.3:c.535C>T, NM_145006.2:c.535C>A, NM_145006.2:c.535C>T, XM_017014451.3:c.469C>A, XM_017014451.3:c.469C>T, XM_017014451.2:c.469C>A, XM_017014451.2:c.469C>T, XM_017014451.1:c.469C>A, XM_017014451.1:c.469C>T, XM_011518358.2:c.496C>A, XM_011518358.2:c.496C>T, XM_011518358.1:c.496C>A, XM_011518358.1:c.496C>T, XM_011518359.2:c.496C>A, XM_011518359.2:c.496C>T, XM_011518359.1:c.496C>A, XM_011518359.1:c.496C>T, XM_011518362.2:c.364C>A, XM_011518362.2:c.364C>T, XM_011518362.1:c.364C>A, XM_011518362.1:c.364C>T, XM_017014450.2:c.496C>A, XM_017014450.2:c.496C>T, XM_017014450.1:c.496C>A, XM_017014450.1:c.496C>T, NM_001287005.2:c.496C>A, NM_001287005.2:c.496C>T, NM_001287005.1:c.496C>A, NM_001287005.1:c.496C>T, NM_001287008.2:c.346C>A, NM_001287008.2:c.346C>T, NM_001287008.1:c.346C>A, NM_001287008.1:c.346C>T, XM_047422942.1:c.496C>A, XM_047422942.1:c.496C>T, XM_047422941.1:c.496C>A, XM_047422941.1:c.496C>T, XM_047422943.1:c.496C>A, XM_047422943.1:c.496C>T, NP_659443.1:p.His179Asn, NP_659443.1:p.His179Tyr, XP_016869940.1:p.His157Asn, XP_016869940.1:p.His157Tyr, XP_011516660.1:p.His166Asn, XP_011516660.1:p.His166Tyr, XP_011516661.1:p.His166Asn, XP_011516661.1:p.His166Tyr, XP_011516664.1:p.His122Asn, XP_011516664.1:p.His122Tyr, XP_016869939.1:p.His166Asn, XP_016869939.1:p.His166Tyr, NP_001273934.1:p.His166Asn, NP_001273934.1:p.His166Tyr, NP_001273937.1:p.His116Asn, NP_001273937.1:p.His116Tyr, XP_047278898.1:p.His166Asn, XP_047278898.1:p.His166Tyr, XP_047278897.1:p.His166Asn, XP_047278897.1:p.His166Tyr, XP_047278899.1:p.His166Asn, XP_047278899.1:p.His166Tyr

          5.

          rs1472326928 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:93077911 (GRCh38)
            9:95840193 (GRCh37)
            Canonical SPDI:
            NC_000009.12:93077910:A:G
            Gene:
            SUSD3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000019/5 (TOPMED)
            HGVS:
            NC_000009.12:g.93077911A>G, NC_000009.11:g.95840193A>G, NM_145006.4:c.343A>G, NM_145006.3:c.343A>G, NM_145006.2:c.343A>G, XM_017014451.3:c.277A>G, XM_017014451.2:c.277A>G, XM_017014451.1:c.277A>G, XM_011518358.2:c.304A>G, XM_011518358.1:c.304A>G, XM_011518359.2:c.304A>G, XM_011518359.1:c.304A>G, XM_011518362.2:c.172A>G, XM_011518362.1:c.172A>G, XM_017014450.2:c.304A>G, XM_017014450.1:c.304A>G, NM_001287005.2:c.304A>G, NM_001287005.1:c.304A>G, NM_001287006.2:c.343A>G, NM_001287006.1:c.343A>G, NM_001287008.2:c.154A>G, NM_001287008.1:c.154A>G, NM_001287007.2:c.154A>G, NM_001287007.1:c.154A>G, XM_047422942.1:c.304A>G, XM_047422941.1:c.304A>G, XM_047422943.1:c.304A>G, NP_659443.1:p.Ile115Val, XP_016869940.1:p.Ile93Val, XP_011516660.1:p.Ile102Val, XP_011516661.1:p.Ile102Val, XP_011516664.1:p.Ile58Val, XP_016869939.1:p.Ile102Val, NP_001273934.1:p.Ile102Val, NP_001273935.1:p.Ile115Val, NP_001273937.1:p.Ile52Val, NP_001273936.1:p.Ile52Val, XP_047278898.1:p.Ile102Val, XP_047278897.1:p.Ile102Val, XP_047278899.1:p.Ile102Val

            6.

            rs1463840893 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:93077863 (GRCh38)
              9:95840145 (GRCh37)
              Canonical SPDI:
              NC_000009.12:93077862:A:G
              Gene:
              SUSD3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.93077863A>G, NC_000009.11:g.95840145A>G, NM_145006.4:c.295A>G, NM_145006.3:c.295A>G, NM_145006.2:c.295A>G, XM_017014451.3:c.229A>G, XM_017014451.2:c.229A>G, XM_017014451.1:c.229A>G, XM_011518358.2:c.256A>G, XM_011518358.1:c.256A>G, XM_011518359.2:c.256A>G, XM_011518359.1:c.256A>G, XM_011518362.2:c.124A>G, XM_011518362.1:c.124A>G, XM_017014450.2:c.256A>G, XM_017014450.1:c.256A>G, NM_001287005.2:c.256A>G, NM_001287005.1:c.256A>G, NM_001287006.2:c.295A>G, NM_001287006.1:c.295A>G, NM_001287008.2:c.106A>G, NM_001287008.1:c.106A>G, NM_001287007.2:c.106A>G, NM_001287007.1:c.106A>G, XM_047422942.1:c.256A>G, XM_047422941.1:c.256A>G, XM_047422943.1:c.256A>G, NP_659443.1:p.Thr99Ala, XP_016869940.1:p.Thr77Ala, XP_011516660.1:p.Thr86Ala, XP_011516661.1:p.Thr86Ala, XP_011516664.1:p.Thr42Ala, XP_016869939.1:p.Thr86Ala, NP_001273934.1:p.Thr86Ala, NP_001273935.1:p.Thr99Ala, NP_001273937.1:p.Thr36Ala, NP_001273936.1:p.Thr36Ala, XP_047278898.1:p.Thr86Ala, XP_047278897.1:p.Thr86Ala, XP_047278899.1:p.Thr86Ala

              7.

              rs1461884638 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:93079589 (GRCh38)
                9:95841871 (GRCh37)
                Canonical SPDI:
                NC_000009.12:93079588:C:T
                Gene:
                SUSD3 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.93079589C>T, NC_000009.11:g.95841871C>T, NM_145006.4:c.544C>T, NM_145006.3:c.544C>T, NM_145006.2:c.544C>T, XM_017014451.3:c.478C>T, XM_017014451.2:c.478C>T, XM_017014451.1:c.478C>T, XM_011518358.2:c.505C>T, XM_011518358.1:c.505C>T, XM_011518359.2:c.505C>T, XM_011518359.1:c.505C>T, XM_011518362.2:c.373C>T, XM_011518362.1:c.373C>T, XM_017014450.2:c.505C>T, XM_017014450.1:c.505C>T, NM_001287005.2:c.505C>T, NM_001287005.1:c.505C>T, NM_001287008.2:c.355C>T, NM_001287008.1:c.355C>T, XM_047422942.1:c.505C>T, XM_047422941.1:c.505C>T, XM_047422943.1:c.505C>T, NP_659443.1:p.His182Tyr, XP_016869940.1:p.His160Tyr, XP_011516660.1:p.His169Tyr, XP_011516661.1:p.His169Tyr, XP_011516664.1:p.His125Tyr, XP_016869939.1:p.His169Tyr, NP_001273934.1:p.His169Tyr, NP_001273937.1:p.His119Tyr, XP_047278898.1:p.His169Tyr, XP_047278897.1:p.His169Tyr, XP_047278899.1:p.His169Tyr

                8.

                rs1460342805 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  9:93084551 (GRCh38)
                  9:95846833 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:93084550:G:T
                  Gene:
                  SUSD3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.93084551G>T, NC_000009.11:g.95846833G>T, NM_145006.4:c.572G>T, NM_145006.3:c.572G>T, NM_145006.2:c.572G>T, XM_017014451.3:c.506G>T, XM_017014451.2:c.506G>T, XM_017014451.1:c.506G>T, XM_011518358.2:c.533G>T, XM_011518358.1:c.533G>T, XM_011518359.2:c.533G>T, XM_011518359.1:c.533G>T, XM_011518362.2:c.401G>T, XM_011518362.1:c.401G>T, XM_017014450.2:c.533G>T, XM_017014450.1:c.533G>T, NM_001287005.2:c.533G>T, NM_001287005.1:c.533G>T, NM_001287006.2:c.440G>T, NM_001287006.1:c.440G>T, NM_001287008.2:c.383G>T, NM_001287008.1:c.383G>T, NM_001287007.2:c.251G>T, NM_001287007.1:c.251G>T, XM_047422942.1:c.533G>T, XM_047422941.1:c.533G>T, XM_047422943.1:c.533G>T, NP_659443.1:p.Ser191Ile, XP_016869940.1:p.Ser169Ile, XP_011516660.1:p.Ser178Ile, XP_011516661.1:p.Ser178Ile, XP_011516664.1:p.Ser134Ile, XP_016869939.1:p.Ser178Ile, NP_001273934.1:p.Ser178Ile, NP_001273935.1:p.Ser147Ile, NP_001273937.1:p.Ser128Ile, NP_001273936.1:p.Ser84Ile, XP_047278898.1:p.Ser178Ile, XP_047278897.1:p.Ser178Ile, XP_047278899.1:p.Ser178Ile

                  9.

                  rs1454175049 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:93075845 (GRCh38)
                    9:95838127 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:93075844:T:C
                    Gene:
                    SUSD3 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1448215987 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:93084656 (GRCh38)
                      9:95846938 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:93084655:T:C
                      Gene:
                      SUSD3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000009.12:g.93084656T>C, NC_000009.11:g.95846938T>C, NM_145006.4:c.677T>C, NM_145006.3:c.677T>C, NM_145006.2:c.677T>C, XM_017014451.3:c.611T>C, XM_017014451.2:c.611T>C, XM_017014451.1:c.611T>C, XM_011518358.2:c.638T>C, XM_011518358.1:c.638T>C, XM_011518359.2:c.638T>C, XM_011518359.1:c.638T>C, XM_011518362.2:c.506T>C, XM_011518362.1:c.506T>C, XM_017014450.2:c.638T>C, XM_017014450.1:c.638T>C, NM_001287005.2:c.638T>C, NM_001287005.1:c.638T>C, NM_001287006.2:c.545T>C, NM_001287006.1:c.545T>C, NM_001287008.2:c.488T>C, NM_001287008.1:c.488T>C, NM_001287007.2:c.356T>C, NM_001287007.1:c.356T>C, XM_047422942.1:c.638T>C, XM_047422941.1:c.638T>C, XM_047422943.1:c.638T>C, NP_659443.1:p.Met226Thr, XP_016869940.1:p.Met204Thr, XP_011516660.1:p.Met213Thr, XP_011516661.1:p.Met213Thr, XP_011516664.1:p.Met169Thr, XP_016869939.1:p.Met213Thr, NP_001273934.1:p.Met213Thr, NP_001273935.1:p.Met182Thr, NP_001273937.1:p.Met163Thr, NP_001273936.1:p.Met119Thr, XP_047278898.1:p.Met213Thr, XP_047278897.1:p.Met213Thr, XP_047278899.1:p.Met213Thr

                      11.

                      rs1446645135 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:93069110 (GRCh38)
                        9:95831392 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:93069109:T:C
                        Gene:
                        SUSD3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000142/2 (ALFA)
                        C=0.000049/13 (TOPMED)
                        C=0.000057/8 (GnomAD)
                        C=0.000066/9 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1436609812 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          9:93084624 (GRCh38)
                          9:95846906 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:93084623:T:G
                          Gene:
                          SUSD3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000015/4 (TOPMED)
                          G=0.000312/2 (1000Genomes)
                          HGVS:
                          NC_000009.12:g.93084624T>G, NC_000009.11:g.95846906T>G, NM_145006.4:c.645T>G, NM_145006.3:c.645T>G, NM_145006.2:c.645T>G, XM_017014451.3:c.579T>G, XM_017014451.2:c.579T>G, XM_017014451.1:c.579T>G, XM_011518358.2:c.606T>G, XM_011518358.1:c.606T>G, XM_011518359.2:c.606T>G, XM_011518359.1:c.606T>G, XM_011518362.2:c.474T>G, XM_011518362.1:c.474T>G, XM_017014450.2:c.606T>G, XM_017014450.1:c.606T>G, NM_001287005.2:c.606T>G, NM_001287005.1:c.606T>G, NM_001287006.2:c.513T>G, NM_001287006.1:c.513T>G, NM_001287008.2:c.456T>G, NM_001287008.1:c.456T>G, NM_001287007.2:c.324T>G, NM_001287007.1:c.324T>G, XM_047422942.1:c.606T>G, XM_047422941.1:c.606T>G, XM_047422943.1:c.606T>G, NP_659443.1:p.Ser215Arg, XP_016869940.1:p.Ser193Arg, XP_011516660.1:p.Ser202Arg, XP_011516661.1:p.Ser202Arg, XP_011516664.1:p.Ser158Arg, XP_016869939.1:p.Ser202Arg, NP_001273934.1:p.Ser202Arg, NP_001273935.1:p.Ser171Arg, NP_001273937.1:p.Ser152Arg, NP_001273936.1:p.Ser108Arg, XP_047278898.1:p.Ser202Arg, XP_047278897.1:p.Ser202Arg, XP_047278899.1:p.Ser202Arg

                          13.

                          rs1434347375 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:93084731 (GRCh38)
                            9:95847013 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:93084730:C:T
                            Gene:
                            SUSD3 (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_000009.12:g.93084731C>T, NC_000009.11:g.95847013C>T, NM_145006.4:c.752C>T, NM_145006.3:c.752C>T, NM_145006.2:c.752C>T, XM_017014451.3:c.686C>T, XM_017014451.2:c.686C>T, XM_017014451.1:c.686C>T, XM_011518358.2:c.713C>T, XM_011518358.1:c.713C>T, XM_011518359.2:c.713C>T, XM_011518359.1:c.713C>T, XM_011518362.2:c.581C>T, XM_011518362.1:c.581C>T, XM_017014450.2:c.713C>T, XM_017014450.1:c.713C>T, NM_001287005.2:c.713C>T, NM_001287005.1:c.713C>T, NM_001287006.2:c.620C>T, NM_001287006.1:c.620C>T, NM_001287008.2:c.563C>T, NM_001287008.1:c.563C>T, NM_001287007.2:c.431C>T, NM_001287007.1:c.431C>T, XM_047422942.1:c.713C>T, XM_047422941.1:c.713C>T, XM_047422943.1:c.713C>T, NP_659443.1:p.Ala251Val, XP_016869940.1:p.Ala229Val, XP_011516660.1:p.Ala238Val, XP_011516661.1:p.Ala238Val, XP_011516664.1:p.Ala194Val, XP_016869939.1:p.Ala238Val, NP_001273934.1:p.Ala238Val, NP_001273935.1:p.Ala207Val, NP_001273937.1:p.Ala188Val, NP_001273936.1:p.Ala144Val, XP_047278898.1:p.Ala238Val, XP_047278897.1:p.Ala238Val, XP_047278899.1:p.Ala238Val

                            14.

                            rs1429081295 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:93079528 (GRCh38)
                              9:95841810 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:93079527:A:G
                              Gene:
                              SUSD3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1420704334 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:93084713 (GRCh38)
                                9:95846995 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:93084712:T:C
                                Gene:
                                SUSD3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000009.12:g.93084713T>C, NC_000009.11:g.95846995T>C, NM_145006.4:c.734T>C, NM_145006.3:c.734T>C, NM_145006.2:c.734T>C, XM_017014451.3:c.668T>C, XM_017014451.2:c.668T>C, XM_017014451.1:c.668T>C, XM_011518358.2:c.695T>C, XM_011518358.1:c.695T>C, XM_011518359.2:c.695T>C, XM_011518359.1:c.695T>C, XM_011518362.2:c.563T>C, XM_011518362.1:c.563T>C, XM_017014450.2:c.695T>C, XM_017014450.1:c.695T>C, NM_001287005.2:c.695T>C, NM_001287005.1:c.695T>C, NM_001287006.2:c.602T>C, NM_001287006.1:c.602T>C, NM_001287008.2:c.545T>C, NM_001287008.1:c.545T>C, NM_001287007.2:c.413T>C, NM_001287007.1:c.413T>C, XM_047422942.1:c.695T>C, XM_047422941.1:c.695T>C, XM_047422943.1:c.695T>C, NP_659443.1:p.Met245Thr, XP_016869940.1:p.Met223Thr, XP_011516660.1:p.Met232Thr, XP_011516661.1:p.Met232Thr, XP_011516664.1:p.Met188Thr, XP_016869939.1:p.Met232Thr, NP_001273934.1:p.Met232Thr, NP_001273935.1:p.Met201Thr, NP_001273937.1:p.Met182Thr, NP_001273936.1:p.Met138Thr, XP_047278898.1:p.Met232Thr, XP_047278897.1:p.Met232Thr, XP_047278899.1:p.Met232Thr

                                16.

                                rs1415899889 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:93084561 (GRCh38)
                                  9:95846843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:93084560:G:A
                                  Gene:
                                  SUSD3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1415338055 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    9:93079524 (GRCh38)
                                    9:95841806 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:93079523:C:G
                                    Gene:
                                    SUSD3 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_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_000009.12:g.93079524C>G, NC_000009.11:g.95841806C>G, NM_145006.4:c.479C>G, NM_145006.3:c.479C>G, NM_145006.2:c.479C>G, XM_017014451.3:c.413C>G, XM_017014451.2:c.413C>G, XM_017014451.1:c.413C>G, XM_011518358.2:c.440C>G, XM_011518358.1:c.440C>G, XM_011518359.2:c.440C>G, XM_011518359.1:c.440C>G, XM_011518362.2:c.308C>G, XM_011518362.1:c.308C>G, XM_017014450.2:c.440C>G, XM_017014450.1:c.440C>G, NM_001287005.2:c.440C>G, NM_001287005.1:c.440C>G, NM_001287008.2:c.290C>G, NM_001287008.1:c.290C>G, XM_047422942.1:c.440C>G, XM_047422941.1:c.440C>G, XM_047422943.1:c.440C>G, NP_659443.1:p.Ala160Gly, XP_016869940.1:p.Ala138Gly, XP_011516660.1:p.Ala147Gly, XP_011516661.1:p.Ala147Gly, XP_011516664.1:p.Ala103Gly, XP_016869939.1:p.Ala147Gly, NP_001273934.1:p.Ala147Gly, NP_001273937.1:p.Ala97Gly, XP_047278898.1:p.Ala147Gly, XP_047278897.1:p.Ala147Gly, XP_047278899.1:p.Ala147Gly

                                    18.

                                    rs1412490969 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      9:93084650 (GRCh38)
                                      9:95846932 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:93084649:A:C
                                      Gene:
                                      SUSD3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.93084650A>C, NC_000009.11:g.95846932A>C, NM_145006.4:c.671A>C, NM_145006.3:c.671A>C, NM_145006.2:c.671A>C, XM_017014451.3:c.605A>C, XM_017014451.2:c.605A>C, XM_017014451.1:c.605A>C, XM_011518358.2:c.632A>C, XM_011518358.1:c.632A>C, XM_011518359.2:c.632A>C, XM_011518359.1:c.632A>C, XM_011518362.2:c.500A>C, XM_011518362.1:c.500A>C, XM_017014450.2:c.632A>C, XM_017014450.1:c.632A>C, NM_001287005.2:c.632A>C, NM_001287005.1:c.632A>C, NM_001287006.2:c.539A>C, NM_001287006.1:c.539A>C, NM_001287008.2:c.482A>C, NM_001287008.1:c.482A>C, NM_001287007.2:c.350A>C, NM_001287007.1:c.350A>C, XM_047422942.1:c.632A>C, XM_047422941.1:c.632A>C, XM_047422943.1:c.632A>C, NP_659443.1:p.Gln224Pro, XP_016869940.1:p.Gln202Pro, XP_011516660.1:p.Gln211Pro, XP_011516661.1:p.Gln211Pro, XP_011516664.1:p.Gln167Pro, XP_016869939.1:p.Gln211Pro, NP_001273934.1:p.Gln211Pro, NP_001273935.1:p.Gln180Pro, NP_001273937.1:p.Gln161Pro, NP_001273936.1:p.Gln117Pro, XP_047278898.1:p.Gln211Pro, XP_047278897.1:p.Gln211Pro, XP_047278899.1:p.Gln211Pro

                                      19.

                                      rs1408092349 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        9:93084699 (GRCh38)
                                        9:95846981 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:93084698:G:T
                                        Gene:
                                        SUSD3 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1398744109 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:93069109 (GRCh38)
                                          9:95831391 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:93069108:A:G
                                          Gene:
                                          SUSD3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000015/2 (GnomAD_exomes)
                                          HGVS:

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