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Items: 1 to 20 of 641

1.

rs1489568192 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    15:91266647 (GRCh38)
    15:91809877 (GRCh37)
    Canonical SPDI:
    NC_000015.10:91266646:C:A
    Gene:
    SV2B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000015.10:g.91266647C>A, NC_000015.9:g.91809877C>A, NG_051558.1:g.171927C>A, NM_014848.7:c.1074C>A, NM_014848.6:c.1074C>A, NM_014848.5:c.1074C>A, NM_014848.4:c.1074C>A, NM_001323039.3:c.1074C>A, NM_001323039.2:c.1074C>A, NM_001323039.1:c.1074C>A, NM_001323037.3:c.1074C>A, NM_001323037.2:c.1074C>A, NM_001323037.1:c.1074C>A, NM_001323038.3:c.1074C>A, NM_001323038.2:c.1074C>A, NM_001323038.1:c.1074C>A, NM_001323032.3:c.1074C>A, NM_001323032.2:c.1074C>A, NM_001323032.1:c.1074C>A, NM_001323034.3:c.1074C>A, NM_001323034.2:c.1074C>A, NM_001323034.1:c.1074C>A, NM_001323033.3:c.741C>A, NM_001323033.2:c.741C>A, NM_001323033.1:c.741C>A, NM_001323040.3:c.621C>A, NM_001323040.2:c.621C>A, NM_001323040.1:c.621C>A, NM_001323036.3:c.645C>A, NM_001323036.2:c.645C>A, NM_001323036.1:c.645C>A, NM_001167580.3:c.621C>A, NM_001167580.2:c.621C>A, NM_001167580.1:c.621C>A, NM_001323031.2:c.1074C>A, NM_001323031.1:c.1074C>A, XM_005254998.4:c.1074C>A, XM_005254998.3:c.1074C>A, XM_005254998.2:c.1074C>A, XM_005254998.1:c.1074C>A, XM_017022762.2:c.1074C>A, XM_017022762.1:c.1074C>A, XM_017022761.2:c.1074C>A, XM_017022761.1:c.1074C>A, XM_047433392.1:c.1074C>A

    2.

    rs1488621652 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:91268456 (GRCh38)
      15:91811686 (GRCh37)
      Canonical SPDI:
      NC_000015.10:91268455:A:C
      Gene:
      SV2B (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.91268456A>C, NC_000015.9:g.91811686A>C, NG_051558.1:g.173736A>C, NM_014848.7:c.1224A>C, NM_014848.6:c.1224A>C, NM_014848.5:c.1224A>C, NM_014848.4:c.1224A>C, NM_001323039.3:c.1224A>C, NM_001323039.2:c.1224A>C, NM_001323039.1:c.1224A>C, NM_001323037.3:c.1224A>C, NM_001323037.2:c.1224A>C, NM_001323037.1:c.1224A>C, NM_001323038.3:c.1224A>C, NM_001323038.2:c.1224A>C, NM_001323038.1:c.1224A>C, NM_001323032.3:c.1224A>C, NM_001323032.2:c.1224A>C, NM_001323032.1:c.1224A>C, NM_001323034.3:c.1224A>C, NM_001323034.2:c.1224A>C, NM_001323034.1:c.1224A>C, NM_001323033.3:c.891A>C, NM_001323033.2:c.891A>C, NM_001323033.1:c.891A>C, NM_001323040.3:c.771A>C, NM_001323040.2:c.771A>C, NM_001323040.1:c.771A>C, NM_001323036.3:c.795A>C, NM_001323036.2:c.795A>C, NM_001323036.1:c.795A>C, NM_001167580.3:c.771A>C, NM_001167580.2:c.771A>C, NM_001167580.1:c.771A>C, NM_001323031.2:c.1224A>C, NM_001323031.1:c.1224A>C, XM_005254998.4:c.1224A>C, XM_005254998.3:c.1224A>C, XM_005254998.2:c.1224A>C, XM_005254998.1:c.1224A>C, XM_017022762.2:c.1224A>C, XM_017022762.1:c.1224A>C, XM_017022761.2:c.1224A>C, XM_017022761.1:c.1224A>C, XM_047433392.1:c.1224A>C

      3.

      rs1487353517 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        15:91266626 (GRCh38)
        15:91809856 (GRCh37)
        Canonical SPDI:
        NC_000015.10:91266625:G:T
        Gene:
        SV2B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000015.10:g.91266626G>T, NC_000015.9:g.91809856G>T, NG_051558.1:g.171906G>T, NM_014848.7:c.1053G>T, NM_014848.6:c.1053G>T, NM_014848.5:c.1053G>T, NM_014848.4:c.1053G>T, NM_001323039.3:c.1053G>T, NM_001323039.2:c.1053G>T, NM_001323039.1:c.1053G>T, NM_001323037.3:c.1053G>T, NM_001323037.2:c.1053G>T, NM_001323037.1:c.1053G>T, NM_001323038.3:c.1053G>T, NM_001323038.2:c.1053G>T, NM_001323038.1:c.1053G>T, NM_001323032.3:c.1053G>T, NM_001323032.2:c.1053G>T, NM_001323032.1:c.1053G>T, NM_001323034.3:c.1053G>T, NM_001323034.2:c.1053G>T, NM_001323034.1:c.1053G>T, NM_001323033.3:c.720G>T, NM_001323033.2:c.720G>T, NM_001323033.1:c.720G>T, NM_001323040.3:c.600G>T, NM_001323040.2:c.600G>T, NM_001323040.1:c.600G>T, NM_001323036.3:c.624G>T, NM_001323036.2:c.624G>T, NM_001323036.1:c.624G>T, NM_001167580.3:c.600G>T, NM_001167580.2:c.600G>T, NM_001167580.1:c.600G>T, NM_001323031.2:c.1053G>T, NM_001323031.1:c.1053G>T, XM_005254998.4:c.1053G>T, XM_005254998.3:c.1053G>T, XM_005254998.2:c.1053G>T, XM_005254998.1:c.1053G>T, XM_017022762.2:c.1053G>T, XM_017022762.1:c.1053G>T, XM_017022761.2:c.1053G>T, XM_017022761.1:c.1053G>T, XM_047433392.1:c.1053G>T, NP_055663.1:p.Glu351Asp, NP_001309968.1:p.Glu351Asp, NP_001309966.1:p.Glu351Asp, NP_001309967.1:p.Glu351Asp, NP_001309961.1:p.Glu351Asp, NP_001309963.1:p.Glu351Asp, NP_001309962.1:p.Glu240Asp, NP_001309969.1:p.Glu200Asp, NP_001309965.1:p.Glu208Asp, NP_001161052.1:p.Glu200Asp, NP_001309960.1:p.Glu351Asp, XP_005255055.1:p.Glu351Asp, XP_016878251.1:p.Glu351Asp, XP_016878250.1:p.Glu351Asp, XP_047289348.1:p.Glu351Asp

        4.

        rs1487071078 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          15:91266593 (GRCh38)
          15:91809823 (GRCh37)
          Canonical SPDI:
          NC_000015.10:91266592:C:G
          Gene:
          SV2B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000015.10:g.91266593C>G, NC_000015.9:g.91809823C>G, NG_051558.1:g.171873C>G, NM_014848.7:c.1020C>G, NM_014848.6:c.1020C>G, NM_014848.5:c.1020C>G, NM_014848.4:c.1020C>G, NM_001323039.3:c.1020C>G, NM_001323039.2:c.1020C>G, NM_001323039.1:c.1020C>G, NM_001323037.3:c.1020C>G, NM_001323037.2:c.1020C>G, NM_001323037.1:c.1020C>G, NM_001323038.3:c.1020C>G, NM_001323038.2:c.1020C>G, NM_001323038.1:c.1020C>G, NM_001323032.3:c.1020C>G, NM_001323032.2:c.1020C>G, NM_001323032.1:c.1020C>G, NM_001323034.3:c.1020C>G, NM_001323034.2:c.1020C>G, NM_001323034.1:c.1020C>G, NM_001323033.3:c.687C>G, NM_001323033.2:c.687C>G, NM_001323033.1:c.687C>G, NM_001323040.3:c.567C>G, NM_001323040.2:c.567C>G, NM_001323040.1:c.567C>G, NM_001323036.3:c.591C>G, NM_001323036.2:c.591C>G, NM_001323036.1:c.591C>G, NM_001167580.3:c.567C>G, NM_001167580.2:c.567C>G, NM_001167580.1:c.567C>G, NM_001323031.2:c.1020C>G, NM_001323031.1:c.1020C>G, XM_005254998.4:c.1020C>G, XM_005254998.3:c.1020C>G, XM_005254998.2:c.1020C>G, XM_005254998.1:c.1020C>G, XM_017022762.2:c.1020C>G, XM_017022762.1:c.1020C>G, XM_017022761.2:c.1020C>G, XM_017022761.1:c.1020C>G, XM_047433392.1:c.1020C>G, NP_055663.1:p.Ile340Met, NP_001309968.1:p.Ile340Met, NP_001309966.1:p.Ile340Met, NP_001309967.1:p.Ile340Met, NP_001309961.1:p.Ile340Met, NP_001309963.1:p.Ile340Met, NP_001309962.1:p.Ile229Met, NP_001309969.1:p.Ile189Met, NP_001309965.1:p.Ile197Met, NP_001161052.1:p.Ile189Met, NP_001309960.1:p.Ile340Met, XP_005255055.1:p.Ile340Met, XP_016878251.1:p.Ile340Met, XP_016878250.1:p.Ile340Met, XP_047289348.1:p.Ile340Met

          5.

          rs1487018721 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            15:91251999 (GRCh38)
            15:91795229 (GRCh37)
            Canonical SPDI:
            NC_000015.10:91251998:G:C
            Gene:
            SV2B (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.91251999G>C, NC_000015.9:g.91795229G>C, NG_051558.1:g.157279G>C, NM_014848.7:c.632G>C, NM_014848.6:c.632G>C, NM_014848.5:c.632G>C, NM_014848.4:c.632G>C, NM_001323039.3:c.632G>C, NM_001323039.2:c.632G>C, NM_001323039.1:c.632G>C, NM_001323037.3:c.632G>C, NM_001323037.2:c.632G>C, NM_001323037.1:c.632G>C, NM_001323038.3:c.632G>C, NM_001323038.2:c.632G>C, NM_001323038.1:c.632G>C, NM_001323032.3:c.632G>C, NM_001323032.2:c.632G>C, NM_001323032.1:c.632G>C, NM_001323034.3:c.632G>C, NM_001323034.2:c.632G>C, NM_001323034.1:c.632G>C, NM_001323040.3:c.179G>C, NM_001323040.2:c.179G>C, NM_001323040.1:c.179G>C, NM_001323036.3:c.203G>C, NM_001323036.2:c.203G>C, NM_001323036.1:c.203G>C, NM_001167580.3:c.179G>C, NM_001167580.2:c.179G>C, NM_001167580.1:c.179G>C, NM_001323031.2:c.632G>C, NM_001323031.1:c.632G>C, XM_005254998.4:c.632G>C, XM_005254998.3:c.632G>C, XM_005254998.2:c.632G>C, XM_005254998.1:c.632G>C, XM_017022762.2:c.632G>C, XM_017022762.1:c.632G>C, XM_017022761.2:c.632G>C, XM_017022761.1:c.632G>C, XM_047433392.1:c.632G>C, NP_055663.1:p.Gly211Ala, NP_001309968.1:p.Gly211Ala, NP_001309966.1:p.Gly211Ala, NP_001309967.1:p.Gly211Ala, NP_001309961.1:p.Gly211Ala, NP_001309963.1:p.Gly211Ala, NP_001309969.1:p.Gly60Ala, NP_001309965.1:p.Gly68Ala, NP_001161052.1:p.Gly60Ala, NP_001309960.1:p.Gly211Ala, XP_005255055.1:p.Gly211Ala, XP_016878251.1:p.Gly211Ala, XP_016878250.1:p.Gly211Ala, XP_047289348.1:p.Gly211Ala

            6.

            rs1485583189 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              15:91284187 (GRCh38)
              15:91827417 (GRCh37)
              Canonical SPDI:
              NC_000015.10:91284186:G:T
              Gene:
              SV2B (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000045/2 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              T=0.000011/3 (TOPMED)
              HGVS:
              NC_000015.10:g.91284187G>T, NC_000015.9:g.91827417G>T, NG_051558.1:g.189467G>T, NM_014848.7:c.1674G>T, NM_014848.6:c.1674G>T, NM_014848.5:c.1674G>T, NM_014848.4:c.1674G>T, NM_001323039.3:c.1674G>T, NM_001323039.2:c.1674G>T, NM_001323039.1:c.1674G>T, NM_001323037.3:c.1674G>T, NM_001323037.2:c.1674G>T, NM_001323037.1:c.1674G>T, NM_001323038.3:c.1674G>T, NM_001323038.2:c.1674G>T, NM_001323038.1:c.1674G>T, NM_001323032.3:c.1674G>T, NM_001323032.2:c.1674G>T, NM_001323032.1:c.1674G>T, NM_001323033.3:c.1341G>T, NM_001323033.2:c.1341G>T, NM_001323033.1:c.1341G>T, NM_001323040.3:c.1221G>T, NM_001323040.2:c.1221G>T, NM_001323040.1:c.1221G>T, NM_001323036.3:c.1245G>T, NM_001323036.2:c.1245G>T, NM_001323036.1:c.1245G>T, NM_001167580.3:c.1221G>T, NM_001167580.2:c.1221G>T, NM_001167580.1:c.1221G>T, NM_001323031.2:c.1674G>T, NM_001323031.1:c.1674G>T, XM_005254998.4:c.1674G>T, XM_005254998.3:c.1674G>T, XM_005254998.2:c.1674G>T, XM_005254998.1:c.1674G>T, XM_017022762.2:c.1674G>T, XM_017022762.1:c.1674G>T, XM_017022761.2:c.1674G>T, XM_017022761.1:c.1674G>T, XM_047433392.1:c.1674G>T

              7.

              rs1484996008 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                15:91267621 (GRCh38)
                15:91810851 (GRCh37)
                Canonical SPDI:
                NC_000015.10:91267620:G:T
                Gene:
                SV2B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.91267621G>T, NC_000015.9:g.91810851G>T, NG_051558.1:g.172901G>T, NM_014848.7:c.1186G>T, NM_014848.6:c.1186G>T, NM_014848.5:c.1186G>T, NM_014848.4:c.1186G>T, NM_001323039.3:c.1186G>T, NM_001323039.2:c.1186G>T, NM_001323039.1:c.1186G>T, NM_001323037.3:c.1186G>T, NM_001323037.2:c.1186G>T, NM_001323037.1:c.1186G>T, NM_001323038.3:c.1186G>T, NM_001323038.2:c.1186G>T, NM_001323038.1:c.1186G>T, NM_001323032.3:c.1186G>T, NM_001323032.2:c.1186G>T, NM_001323032.1:c.1186G>T, NM_001323034.3:c.1186G>T, NM_001323034.2:c.1186G>T, NM_001323034.1:c.1186G>T, NM_001323033.3:c.853G>T, NM_001323033.2:c.853G>T, NM_001323033.1:c.853G>T, NM_001323040.3:c.733G>T, NM_001323040.2:c.733G>T, NM_001323040.1:c.733G>T, NM_001323036.3:c.757G>T, NM_001323036.2:c.757G>T, NM_001323036.1:c.757G>T, NM_001167580.3:c.733G>T, NM_001167580.2:c.733G>T, NM_001167580.1:c.733G>T, NM_001323031.2:c.1186G>T, NM_001323031.1:c.1186G>T, XM_005254998.4:c.1186G>T, XM_005254998.3:c.1186G>T, XM_005254998.2:c.1186G>T, XM_005254998.1:c.1186G>T, XM_017022762.2:c.1186G>T, XM_017022762.1:c.1186G>T, XM_017022761.2:c.1186G>T, XM_017022761.1:c.1186G>T, XM_047433392.1:c.1186G>T, NP_055663.1:p.Val396Phe, NP_001309968.1:p.Val396Phe, NP_001309966.1:p.Val396Phe, NP_001309967.1:p.Val396Phe, NP_001309961.1:p.Val396Phe, NP_001309963.1:p.Val396Phe, NP_001309962.1:p.Val285Phe, NP_001309969.1:p.Val245Phe, NP_001309965.1:p.Val253Phe, NP_001161052.1:p.Val245Phe, NP_001309960.1:p.Val396Phe, XP_005255055.1:p.Val396Phe, XP_016878251.1:p.Val396Phe, XP_016878250.1:p.Val396Phe, XP_047289348.1:p.Val396Phe

                8.

                rs1483868993 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:91226479 (GRCh38)
                  15:91769709 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:91226478:C:T
                  Gene:
                  SV2B (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.91226479C>T, NC_000015.9:g.91769709C>T, NG_051558.1:g.131759C>T, NM_014848.7:c.216C>T, NM_014848.6:c.216C>T, NM_014848.5:c.216C>T, NM_014848.4:c.216C>T, NM_001323039.3:c.216C>T, NM_001323039.2:c.216C>T, NM_001323039.1:c.216C>T, NM_001323037.3:c.216C>T, NM_001323037.2:c.216C>T, NM_001323037.1:c.216C>T, NM_001323038.3:c.216C>T, NM_001323038.2:c.216C>T, NM_001323038.1:c.216C>T, NM_001323032.3:c.216C>T, NM_001323032.2:c.216C>T, NM_001323032.1:c.216C>T, NM_001323034.3:c.216C>T, NM_001323034.2:c.216C>T, NM_001323034.1:c.216C>T, NM_001323033.3:c.216C>T, NM_001323033.2:c.216C>T, NM_001323033.1:c.216C>T, NM_001323031.2:c.216C>T, NM_001323031.1:c.216C>T, XM_005254998.4:c.216C>T, XM_005254998.3:c.216C>T, XM_005254998.2:c.216C>T, XM_005254998.1:c.216C>T, XM_017022762.2:c.216C>T, XM_017022762.1:c.216C>T, XM_017022761.2:c.216C>T, XM_017022761.1:c.216C>T, XM_047433392.1:c.216C>T

                  9.

                  rs1481727004 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    15:91268473 (GRCh38)
                    15:91811703 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:91268472:T:A,NC_000015.10:91268472:T:C
                    Gene:
                    SV2B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000008/2 (TOPMED)
                    C=0.000684/2 (KOREAN)
                    HGVS:
                    NC_000015.10:g.91268473T>A, NC_000015.10:g.91268473T>C, NC_000015.9:g.91811703T>A, NC_000015.9:g.91811703T>C, NG_051558.1:g.173753T>A, NG_051558.1:g.173753T>C, NM_014848.7:c.1241T>A, NM_014848.7:c.1241T>C, NM_014848.6:c.1241T>A, NM_014848.6:c.1241T>C, NM_014848.5:c.1241T>A, NM_014848.5:c.1241T>C, NM_014848.4:c.1241T>A, NM_014848.4:c.1241T>C, NM_001323039.3:c.1241T>A, NM_001323039.3:c.1241T>C, NM_001323039.2:c.1241T>A, NM_001323039.2:c.1241T>C, NM_001323039.1:c.1241T>A, NM_001323039.1:c.1241T>C, NM_001323037.3:c.1241T>A, NM_001323037.3:c.1241T>C, NM_001323037.2:c.1241T>A, NM_001323037.2:c.1241T>C, NM_001323037.1:c.1241T>A, NM_001323037.1:c.1241T>C, NM_001323038.3:c.1241T>A, NM_001323038.3:c.1241T>C, NM_001323038.2:c.1241T>A, NM_001323038.2:c.1241T>C, NM_001323038.1:c.1241T>A, NM_001323038.1:c.1241T>C, NM_001323032.3:c.1241T>A, NM_001323032.3:c.1241T>C, NM_001323032.2:c.1241T>A, NM_001323032.2:c.1241T>C, NM_001323032.1:c.1241T>A, NM_001323032.1:c.1241T>C, NM_001323034.3:c.1241T>A, NM_001323034.3:c.1241T>C, NM_001323034.2:c.1241T>A, NM_001323034.2:c.1241T>C, NM_001323034.1:c.1241T>A, NM_001323034.1:c.1241T>C, NM_001323033.3:c.908T>A, NM_001323033.3:c.908T>C, NM_001323033.2:c.908T>A, NM_001323033.2:c.908T>C, NM_001323033.1:c.908T>A, NM_001323033.1:c.908T>C, NM_001323040.3:c.788T>A, NM_001323040.3:c.788T>C, NM_001323040.2:c.788T>A, NM_001323040.2:c.788T>C, NM_001323040.1:c.788T>A, NM_001323040.1:c.788T>C, NM_001323036.3:c.812T>A, NM_001323036.3:c.812T>C, NM_001323036.2:c.812T>A, NM_001323036.2:c.812T>C, NM_001323036.1:c.812T>A, NM_001323036.1:c.812T>C, NM_001167580.3:c.788T>A, NM_001167580.3:c.788T>C, NM_001167580.2:c.788T>A, NM_001167580.2:c.788T>C, NM_001167580.1:c.788T>A, NM_001167580.1:c.788T>C, NM_001323031.2:c.1241T>A, NM_001323031.2:c.1241T>C, NM_001323031.1:c.1241T>A, NM_001323031.1:c.1241T>C, XM_005254998.4:c.1241T>A, XM_005254998.4:c.1241T>C, XM_005254998.3:c.1241T>A, XM_005254998.3:c.1241T>C, XM_005254998.2:c.1241T>A, XM_005254998.2:c.1241T>C, XM_005254998.1:c.1241T>A, XM_005254998.1:c.1241T>C, XM_017022762.2:c.1241T>A, XM_017022762.2:c.1241T>C, XM_017022762.1:c.1241T>A, XM_017022762.1:c.1241T>C, XM_017022761.2:c.1241T>A, XM_017022761.2:c.1241T>C, XM_017022761.1:c.1241T>A, XM_017022761.1:c.1241T>C, XM_047433392.1:c.1241T>A, XM_047433392.1:c.1241T>C, NP_055663.1:p.Met414Lys, NP_055663.1:p.Met414Thr, NP_001309968.1:p.Met414Lys, NP_001309968.1:p.Met414Thr, NP_001309966.1:p.Met414Lys, NP_001309966.1:p.Met414Thr, NP_001309967.1:p.Met414Lys, NP_001309967.1:p.Met414Thr, NP_001309961.1:p.Met414Lys, NP_001309961.1:p.Met414Thr, NP_001309963.1:p.Met414Lys, NP_001309963.1:p.Met414Thr, NP_001309962.1:p.Met303Lys, NP_001309962.1:p.Met303Thr, NP_001309969.1:p.Met263Lys, NP_001309969.1:p.Met263Thr, NP_001309965.1:p.Met271Lys, NP_001309965.1:p.Met271Thr, NP_001161052.1:p.Met263Lys, NP_001161052.1:p.Met263Thr, NP_001309960.1:p.Met414Lys, NP_001309960.1:p.Met414Thr, XP_005255055.1:p.Met414Lys, XP_005255055.1:p.Met414Thr, XP_016878251.1:p.Met414Lys, XP_016878251.1:p.Met414Thr, XP_016878250.1:p.Met414Lys, XP_016878250.1:p.Met414Thr, XP_047289348.1:p.Met414Lys, XP_047289348.1:p.Met414Thr

                    10.

                    rs1481472446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:91258442 (GRCh38)
                      15:91801672 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:91258441:C:T
                      Gene:
                      SV2B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_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:
                      NC_000015.10:g.91258442C>T, NC_000015.9:g.91801672C>T, NG_051558.1:g.163722C>T, NM_014848.7:c.806C>T, NM_014848.6:c.806C>T, NM_014848.5:c.806C>T, NM_014848.4:c.806C>T, NM_001323039.3:c.806C>T, NM_001323039.2:c.806C>T, NM_001323039.1:c.806C>T, NM_001323037.3:c.806C>T, NM_001323037.2:c.806C>T, NM_001323037.1:c.806C>T, NM_001323038.3:c.806C>T, NM_001323038.2:c.806C>T, NM_001323038.1:c.806C>T, NM_001323032.3:c.806C>T, NM_001323032.2:c.806C>T, NM_001323032.1:c.806C>T, NM_001323034.3:c.806C>T, NM_001323034.2:c.806C>T, NM_001323034.1:c.806C>T, NM_001323033.3:c.473C>T, NM_001323033.2:c.473C>T, NM_001323033.1:c.473C>T, NM_001323040.3:c.353C>T, NM_001323040.2:c.353C>T, NM_001323040.1:c.353C>T, NM_001323036.3:c.377C>T, NM_001323036.2:c.377C>T, NM_001323036.1:c.377C>T, NM_001167580.3:c.353C>T, NM_001167580.2:c.353C>T, NM_001167580.1:c.353C>T, NM_001323031.2:c.806C>T, NM_001323031.1:c.806C>T, XM_005254998.4:c.806C>T, XM_005254998.3:c.806C>T, XM_005254998.2:c.806C>T, XM_005254998.1:c.806C>T, XM_017022762.2:c.806C>T, XM_017022762.1:c.806C>T, XM_017022761.2:c.806C>T, XM_017022761.1:c.806C>T, XM_047433392.1:c.806C>T, NP_055663.1:p.Thr269Ile, NP_001309968.1:p.Thr269Ile, NP_001309966.1:p.Thr269Ile, NP_001309967.1:p.Thr269Ile, NP_001309961.1:p.Thr269Ile, NP_001309963.1:p.Thr269Ile, NP_001309962.1:p.Thr158Ile, NP_001309969.1:p.Thr118Ile, NP_001309965.1:p.Thr126Ile, NP_001161052.1:p.Thr118Ile, NP_001309960.1:p.Thr269Ile, XP_005255055.1:p.Thr269Ile, XP_016878251.1:p.Thr269Ile, XP_016878250.1:p.Thr269Ile, XP_047289348.1:p.Thr269Ile

                      11.

                      rs1481346147 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        15:91252443 (GRCh38)
                        15:91795673 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:91252442:T:A
                        Gene:
                        SV2B (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000015.10:g.91252443T>A, NC_000015.9:g.91795673T>A, NG_051558.1:g.157723T>A, NM_014848.7:c.707T>A, NM_014848.6:c.707T>A, NM_014848.5:c.707T>A, NM_014848.4:c.707T>A, NM_001323039.3:c.707T>A, NM_001323039.2:c.707T>A, NM_001323039.1:c.707T>A, NM_001323037.3:c.707T>A, NM_001323037.2:c.707T>A, NM_001323037.1:c.707T>A, NM_001323038.3:c.707T>A, NM_001323038.2:c.707T>A, NM_001323038.1:c.707T>A, NM_001323032.3:c.707T>A, NM_001323032.2:c.707T>A, NM_001323032.1:c.707T>A, NM_001323034.3:c.707T>A, NM_001323034.2:c.707T>A, NM_001323034.1:c.707T>A, NM_001323040.3:c.254T>A, NM_001323040.2:c.254T>A, NM_001323040.1:c.254T>A, NM_001323036.3:c.278T>A, NM_001323036.2:c.278T>A, NM_001323036.1:c.278T>A, NM_001167580.3:c.254T>A, NM_001167580.2:c.254T>A, NM_001167580.1:c.254T>A, NM_001323031.2:c.707T>A, NM_001323031.1:c.707T>A, XM_005254998.4:c.707T>A, XM_005254998.3:c.707T>A, XM_005254998.2:c.707T>A, XM_005254998.1:c.707T>A, XM_017022762.2:c.707T>A, XM_017022762.1:c.707T>A, XM_017022761.2:c.707T>A, XM_017022761.1:c.707T>A, XM_047433392.1:c.707T>A, NP_055663.1:p.Leu236His, NP_001309968.1:p.Leu236His, NP_001309966.1:p.Leu236His, NP_001309967.1:p.Leu236His, NP_001309961.1:p.Leu236His, NP_001309963.1:p.Leu236His, NP_001309969.1:p.Leu85His, NP_001309965.1:p.Leu93His, NP_001161052.1:p.Leu85His, NP_001309960.1:p.Leu236His, XP_005255055.1:p.Leu236His, XP_016878251.1:p.Leu236His, XP_016878250.1:p.Leu236His, XP_047289348.1:p.Leu236His

                        12.

                        rs1480753224 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:91266628 (GRCh38)
                          15:91809858 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:91266627:T:C
                          Gene:
                          SV2B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.91266628T>C, NC_000015.9:g.91809858T>C, NG_051558.1:g.171908T>C, NM_014848.7:c.1055T>C, NM_014848.6:c.1055T>C, NM_014848.5:c.1055T>C, NM_014848.4:c.1055T>C, NM_001323039.3:c.1055T>C, NM_001323039.2:c.1055T>C, NM_001323039.1:c.1055T>C, NM_001323037.3:c.1055T>C, NM_001323037.2:c.1055T>C, NM_001323037.1:c.1055T>C, NM_001323038.3:c.1055T>C, NM_001323038.2:c.1055T>C, NM_001323038.1:c.1055T>C, NM_001323032.3:c.1055T>C, NM_001323032.2:c.1055T>C, NM_001323032.1:c.1055T>C, NM_001323034.3:c.1055T>C, NM_001323034.2:c.1055T>C, NM_001323034.1:c.1055T>C, NM_001323033.3:c.722T>C, NM_001323033.2:c.722T>C, NM_001323033.1:c.722T>C, NM_001323040.3:c.602T>C, NM_001323040.2:c.602T>C, NM_001323040.1:c.602T>C, NM_001323036.3:c.626T>C, NM_001323036.2:c.626T>C, NM_001323036.1:c.626T>C, NM_001167580.3:c.602T>C, NM_001167580.2:c.602T>C, NM_001167580.1:c.602T>C, NM_001323031.2:c.1055T>C, NM_001323031.1:c.1055T>C, XM_005254998.4:c.1055T>C, XM_005254998.3:c.1055T>C, XM_005254998.2:c.1055T>C, XM_005254998.1:c.1055T>C, XM_017022762.2:c.1055T>C, XM_017022762.1:c.1055T>C, XM_017022761.2:c.1055T>C, XM_017022761.1:c.1055T>C, XM_047433392.1:c.1055T>C, NP_055663.1:p.Ile352Thr, NP_001309968.1:p.Ile352Thr, NP_001309966.1:p.Ile352Thr, NP_001309967.1:p.Ile352Thr, NP_001309961.1:p.Ile352Thr, NP_001309963.1:p.Ile352Thr, NP_001309962.1:p.Ile241Thr, NP_001309969.1:p.Ile201Thr, NP_001309965.1:p.Ile209Thr, NP_001161052.1:p.Ile201Thr, NP_001309960.1:p.Ile352Thr, XP_005255055.1:p.Ile352Thr, XP_016878251.1:p.Ile352Thr, XP_016878250.1:p.Ile352Thr, XP_047289348.1:p.Ile352Thr

                          13.

                          rs1480092828 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            15:91281811 (GRCh38)
                            15:91825041 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:91281810:A:T
                            Gene:
                            SV2B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.91281811A>T, NC_000015.9:g.91825041A>T, NG_051558.1:g.187091A>T, NM_014848.7:c.1457A>T, NM_014848.6:c.1457A>T, NM_014848.5:c.1457A>T, NM_014848.4:c.1457A>T, NM_001323039.3:c.1457A>T, NM_001323039.2:c.1457A>T, NM_001323039.1:c.1457A>T, NM_001323037.3:c.1457A>T, NM_001323037.2:c.1457A>T, NM_001323037.1:c.1457A>T, NM_001323038.3:c.1457A>T, NM_001323038.2:c.1457A>T, NM_001323038.1:c.1457A>T, NM_001323032.3:c.1457A>T, NM_001323032.2:c.1457A>T, NM_001323032.1:c.1457A>T, NM_001323034.3:c.1457A>T, NM_001323034.2:c.1457A>T, NM_001323034.1:c.1457A>T, NM_001323033.3:c.1124A>T, NM_001323033.2:c.1124A>T, NM_001323033.1:c.1124A>T, NM_001323040.3:c.1004A>T, NM_001323040.2:c.1004A>T, NM_001323040.1:c.1004A>T, NM_001323036.3:c.1028A>T, NM_001323036.2:c.1028A>T, NM_001323036.1:c.1028A>T, NM_001167580.3:c.1004A>T, NM_001167580.2:c.1004A>T, NM_001167580.1:c.1004A>T, NM_001323031.2:c.1457A>T, NM_001323031.1:c.1457A>T, XM_005254998.4:c.1457A>T, XM_005254998.3:c.1457A>T, XM_005254998.2:c.1457A>T, XM_005254998.1:c.1457A>T, XM_017022762.2:c.1457A>T, XM_017022762.1:c.1457A>T, XM_017022761.2:c.1457A>T, XM_017022761.1:c.1457A>T, XM_047433392.1:c.1457A>T, NP_055663.1:p.Asp486Val, NP_001309968.1:p.Asp486Val, NP_001309966.1:p.Asp486Val, NP_001309967.1:p.Asp486Val, NP_001309961.1:p.Asp486Val, NP_001309963.1:p.Asp486Val, NP_001309962.1:p.Asp375Val, NP_001309969.1:p.Asp335Val, NP_001309965.1:p.Asp343Val, NP_001161052.1:p.Asp335Val, NP_001309960.1:p.Asp486Val, XP_005255055.1:p.Asp486Val, XP_016878251.1:p.Asp486Val, XP_016878250.1:p.Asp486Val, XP_047289348.1:p.Asp486Val

                            14.

                            rs1479387950 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:91252459 (GRCh38)
                              15:91795689 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:91252458:C:T
                              Gene:
                              SV2B (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000015.10:g.91252459C>T, NC_000015.9:g.91795689C>T, NG_051558.1:g.157739C>T, NM_014848.7:c.723C>T, NM_014848.6:c.723C>T, NM_014848.5:c.723C>T, NM_014848.4:c.723C>T, NM_001323039.3:c.723C>T, NM_001323039.2:c.723C>T, NM_001323039.1:c.723C>T, NM_001323037.3:c.723C>T, NM_001323037.2:c.723C>T, NM_001323037.1:c.723C>T, NM_001323038.3:c.723C>T, NM_001323038.2:c.723C>T, NM_001323038.1:c.723C>T, NM_001323032.3:c.723C>T, NM_001323032.2:c.723C>T, NM_001323032.1:c.723C>T, NM_001323034.3:c.723C>T, NM_001323034.2:c.723C>T, NM_001323034.1:c.723C>T, NM_001323040.3:c.270C>T, NM_001323040.2:c.270C>T, NM_001323040.1:c.270C>T, NM_001323036.3:c.294C>T, NM_001323036.2:c.294C>T, NM_001323036.1:c.294C>T, NM_001167580.3:c.270C>T, NM_001167580.2:c.270C>T, NM_001167580.1:c.270C>T, NM_001323031.2:c.723C>T, NM_001323031.1:c.723C>T, XM_005254998.4:c.723C>T, XM_005254998.3:c.723C>T, XM_005254998.2:c.723C>T, XM_005254998.1:c.723C>T, XM_017022762.2:c.723C>T, XM_017022762.1:c.723C>T, XM_017022761.2:c.723C>T, XM_017022761.1:c.723C>T, XM_047433392.1:c.723C>T

                              15.

                              rs1478450098 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:91292472 (GRCh38)
                                15:91835702 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:91292471:C:T
                                Gene:
                                SV2B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.91292472C>T, NC_000015.9:g.91835702C>T, NG_051558.1:g.197752C>T, NM_014848.7:c.1972C>T, NM_014848.6:c.1972C>T, NM_014848.5:c.1972C>T, NM_014848.4:c.1972C>T, NM_001323039.3:c.1972C>T, NM_001323039.2:c.1972C>T, NM_001323039.1:c.1972C>T, NM_001323037.3:c.1972C>T, NM_001323037.2:c.1972C>T, NM_001323037.1:c.1972C>T, NM_001323038.3:c.1972C>T, NM_001323038.2:c.1972C>T, NM_001323038.1:c.1972C>T, NM_001323032.3:c.1972C>T, NM_001323032.2:c.1972C>T, NM_001323032.1:c.1972C>T, NM_001323034.3:c.1771C>T, NM_001323034.2:c.1771C>T, NM_001323034.1:c.1771C>T, NM_001323033.3:c.1639C>T, NM_001323033.2:c.1639C>T, NM_001323033.1:c.1639C>T, NM_001323040.3:c.1519C>T, NM_001323040.2:c.1519C>T, NM_001323040.1:c.1519C>T, NM_001323036.3:c.1543C>T, NM_001323036.2:c.1543C>T, NM_001323036.1:c.1543C>T, NM_001167580.3:c.1519C>T, NM_001167580.2:c.1519C>T, NM_001167580.1:c.1519C>T, NM_001323031.2:c.1972C>T, NM_001323031.1:c.1972C>T, XM_005254998.4:c.1972C>T, XM_005254998.3:c.1972C>T, XM_005254998.2:c.1972C>T, XM_005254998.1:c.1972C>T, XM_017022762.2:c.1972C>T, XM_017022762.1:c.1972C>T, XM_017022761.2:c.1972C>T, XM_017022761.1:c.1972C>T, XM_047433392.1:c.1972C>T, NP_055663.1:p.Leu658Phe, NP_001309968.1:p.Leu658Phe, NP_001309966.1:p.Leu658Phe, NP_001309967.1:p.Leu658Phe, NP_001309961.1:p.Leu658Phe, NP_001309963.1:p.Leu591Phe, NP_001309962.1:p.Leu547Phe, NP_001309969.1:p.Leu507Phe, NP_001309965.1:p.Leu515Phe, NP_001161052.1:p.Leu507Phe, NP_001309960.1:p.Leu658Phe, XP_005255055.1:p.Leu658Phe, XP_016878251.1:p.Leu658Phe, XP_016878250.1:p.Leu658Phe, XP_047289348.1:p.Leu658Phe

                                16.

                                rs1477549127 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  15:91258474 (GRCh38)
                                  15:91801704 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:91258473:G:A,NC_000015.10:91258473:G:T
                                  Gene:
                                  SV2B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.91258474G>A, NC_000015.10:g.91258474G>T, NC_000015.9:g.91801704G>A, NC_000015.9:g.91801704G>T, NG_051558.1:g.163754G>A, NG_051558.1:g.163754G>T, NM_014848.7:c.838G>A, NM_014848.7:c.838G>T, NM_014848.6:c.838G>A, NM_014848.6:c.838G>T, NM_014848.5:c.838G>A, NM_014848.5:c.838G>T, NM_014848.4:c.838G>A, NM_014848.4:c.838G>T, NM_001323039.3:c.838G>A, NM_001323039.3:c.838G>T, NM_001323039.2:c.838G>A, NM_001323039.2:c.838G>T, NM_001323039.1:c.838G>A, NM_001323039.1:c.838G>T, NM_001323037.3:c.838G>A, NM_001323037.3:c.838G>T, NM_001323037.2:c.838G>A, NM_001323037.2:c.838G>T, NM_001323037.1:c.838G>A, NM_001323037.1:c.838G>T, NM_001323038.3:c.838G>A, NM_001323038.3:c.838G>T, NM_001323038.2:c.838G>A, NM_001323038.2:c.838G>T, NM_001323038.1:c.838G>A, NM_001323038.1:c.838G>T, NM_001323032.3:c.838G>A, NM_001323032.3:c.838G>T, NM_001323032.2:c.838G>A, NM_001323032.2:c.838G>T, NM_001323032.1:c.838G>A, NM_001323032.1:c.838G>T, NM_001323034.3:c.838G>A, NM_001323034.3:c.838G>T, NM_001323034.2:c.838G>A, NM_001323034.2:c.838G>T, NM_001323034.1:c.838G>A, NM_001323034.1:c.838G>T, NM_001323033.3:c.505G>A, NM_001323033.3:c.505G>T, NM_001323033.2:c.505G>A, NM_001323033.2:c.505G>T, NM_001323033.1:c.505G>A, NM_001323033.1:c.505G>T, NM_001323040.3:c.385G>A, NM_001323040.3:c.385G>T, NM_001323040.2:c.385G>A, NM_001323040.2:c.385G>T, NM_001323040.1:c.385G>A, NM_001323040.1:c.385G>T, NM_001323036.3:c.409G>A, NM_001323036.3:c.409G>T, NM_001323036.2:c.409G>A, NM_001323036.2:c.409G>T, NM_001323036.1:c.409G>A, NM_001323036.1:c.409G>T, NM_001167580.3:c.385G>A, NM_001167580.3:c.385G>T, NM_001167580.2:c.385G>A, NM_001167580.2:c.385G>T, NM_001167580.1:c.385G>A, NM_001167580.1:c.385G>T, NM_001323031.2:c.838G>A, NM_001323031.2:c.838G>T, NM_001323031.1:c.838G>A, NM_001323031.1:c.838G>T, XM_005254998.4:c.838G>A, XM_005254998.4:c.838G>T, XM_005254998.3:c.838G>A, XM_005254998.3:c.838G>T, XM_005254998.2:c.838G>A, XM_005254998.2:c.838G>T, XM_005254998.1:c.838G>A, XM_005254998.1:c.838G>T, XM_017022762.2:c.838G>A, XM_017022762.2:c.838G>T, XM_017022762.1:c.838G>A, XM_017022762.1:c.838G>T, XM_017022761.2:c.838G>A, XM_017022761.2:c.838G>T, XM_017022761.1:c.838G>A, XM_017022761.1:c.838G>T, XM_047433392.1:c.838G>A, XM_047433392.1:c.838G>T, NP_055663.1:p.Val280Ile, NP_055663.1:p.Val280Phe, NP_001309968.1:p.Val280Ile, NP_001309968.1:p.Val280Phe, NP_001309966.1:p.Val280Ile, NP_001309966.1:p.Val280Phe, NP_001309967.1:p.Val280Ile, NP_001309967.1:p.Val280Phe, NP_001309961.1:p.Val280Ile, NP_001309961.1:p.Val280Phe, NP_001309963.1:p.Val280Ile, NP_001309963.1:p.Val280Phe, NP_001309962.1:p.Val169Ile, NP_001309962.1:p.Val169Phe, NP_001309969.1:p.Val129Ile, NP_001309969.1:p.Val129Phe, NP_001309965.1:p.Val137Ile, NP_001309965.1:p.Val137Phe, NP_001161052.1:p.Val129Ile, NP_001161052.1:p.Val129Phe, NP_001309960.1:p.Val280Ile, NP_001309960.1:p.Val280Phe, XP_005255055.1:p.Val280Ile, XP_005255055.1:p.Val280Phe, XP_016878251.1:p.Val280Ile, XP_016878251.1:p.Val280Phe, XP_016878250.1:p.Val280Ile, XP_016878250.1:p.Val280Phe, XP_047289348.1:p.Val280Ile, XP_047289348.1:p.Val280Phe

                                  17.

                                  rs1475891461 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    15:91258421 (GRCh38)
                                    15:91801651 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:91258420:G:C
                                    Gene:
                                    SV2B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.91258421G>C, NC_000015.9:g.91801651G>C, NG_051558.1:g.163701G>C, NM_014848.7:c.785G>C, NM_014848.6:c.785G>C, NM_014848.5:c.785G>C, NM_014848.4:c.785G>C, NM_001323039.3:c.785G>C, NM_001323039.2:c.785G>C, NM_001323039.1:c.785G>C, NM_001323037.3:c.785G>C, NM_001323037.2:c.785G>C, NM_001323037.1:c.785G>C, NM_001323038.3:c.785G>C, NM_001323038.2:c.785G>C, NM_001323038.1:c.785G>C, NM_001323032.3:c.785G>C, NM_001323032.2:c.785G>C, NM_001323032.1:c.785G>C, NM_001323034.3:c.785G>C, NM_001323034.2:c.785G>C, NM_001323034.1:c.785G>C, NM_001323033.3:c.452G>C, NM_001323033.2:c.452G>C, NM_001323033.1:c.452G>C, NM_001323040.3:c.332G>C, NM_001323040.2:c.332G>C, NM_001323040.1:c.332G>C, NM_001323036.3:c.356G>C, NM_001323036.2:c.356G>C, NM_001323036.1:c.356G>C, NM_001167580.3:c.332G>C, NM_001167580.2:c.332G>C, NM_001167580.1:c.332G>C, NM_001323031.2:c.785G>C, NM_001323031.1:c.785G>C, XM_005254998.4:c.785G>C, XM_005254998.3:c.785G>C, XM_005254998.2:c.785G>C, XM_005254998.1:c.785G>C, XM_017022762.2:c.785G>C, XM_017022762.1:c.785G>C, XM_017022761.2:c.785G>C, XM_017022761.1:c.785G>C, XM_047433392.1:c.785G>C, NP_055663.1:p.Gly262Ala, NP_001309968.1:p.Gly262Ala, NP_001309966.1:p.Gly262Ala, NP_001309967.1:p.Gly262Ala, NP_001309961.1:p.Gly262Ala, NP_001309963.1:p.Gly262Ala, NP_001309962.1:p.Gly151Ala, NP_001309969.1:p.Gly111Ala, NP_001309965.1:p.Gly119Ala, NP_001161052.1:p.Gly111Ala, NP_001309960.1:p.Gly262Ala, XP_005255055.1:p.Gly262Ala, XP_016878251.1:p.Gly262Ala, XP_016878250.1:p.Gly262Ala, XP_047289348.1:p.Gly262Ala

                                    18.

                                    rs1472483637 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:91226301 (GRCh38)
                                      15:91769531 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:91226300:A:G
                                      Gene:
                                      SV2B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000028/1 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000015.10:g.91226301A>G, NC_000015.9:g.91769531A>G, NG_051558.1:g.131581A>G, NM_014848.7:c.38A>G, NM_014848.6:c.38A>G, NM_014848.5:c.38A>G, NM_014848.4:c.38A>G, NM_001323039.3:c.38A>G, NM_001323039.2:c.38A>G, NM_001323039.1:c.38A>G, NM_001323037.3:c.38A>G, NM_001323037.2:c.38A>G, NM_001323037.1:c.38A>G, NM_001323038.3:c.38A>G, NM_001323038.2:c.38A>G, NM_001323038.1:c.38A>G, NM_001323032.3:c.38A>G, NM_001323032.2:c.38A>G, NM_001323032.1:c.38A>G, NM_001323034.3:c.38A>G, NM_001323034.2:c.38A>G, NM_001323034.1:c.38A>G, NM_001323033.3:c.38A>G, NM_001323033.2:c.38A>G, NM_001323033.1:c.38A>G, NM_001323031.2:c.38A>G, NM_001323031.1:c.38A>G, XM_005254998.4:c.38A>G, XM_005254998.3:c.38A>G, XM_005254998.2:c.38A>G, XM_005254998.1:c.38A>G, XM_017022762.2:c.38A>G, XM_017022762.1:c.38A>G, XM_017022761.2:c.38A>G, XM_017022761.1:c.38A>G, XM_047433392.1:c.38A>G, NP_055663.1:p.Tyr13Cys, NP_001309968.1:p.Tyr13Cys, NP_001309966.1:p.Tyr13Cys, NP_001309967.1:p.Tyr13Cys, NP_001309961.1:p.Tyr13Cys, NP_001309963.1:p.Tyr13Cys, NP_001309962.1:p.Tyr13Cys, NP_001309960.1:p.Tyr13Cys, XP_005255055.1:p.Tyr13Cys, XP_016878251.1:p.Tyr13Cys, XP_016878250.1:p.Tyr13Cys, XP_047289348.1:p.Tyr13Cys

                                      19.

                                      rs1469155203 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:91292460 (GRCh38)
                                        15:91835690 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:91292459:G:A
                                        Gene:
                                        SV2B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.91292460G>A, NC_000015.9:g.91835690G>A, NG_051558.1:g.197740G>A, NM_014848.7:c.1960G>A, NM_014848.6:c.1960G>A, NM_014848.5:c.1960G>A, NM_014848.4:c.1960G>A, NM_001323039.3:c.1960G>A, NM_001323039.2:c.1960G>A, NM_001323039.1:c.1960G>A, NM_001323037.3:c.1960G>A, NM_001323037.2:c.1960G>A, NM_001323037.1:c.1960G>A, NM_001323038.3:c.1960G>A, NM_001323038.2:c.1960G>A, NM_001323038.1:c.1960G>A, NM_001323032.3:c.1960G>A, NM_001323032.2:c.1960G>A, NM_001323032.1:c.1960G>A, NM_001323034.3:c.1759G>A, NM_001323034.2:c.1759G>A, NM_001323034.1:c.1759G>A, NM_001323033.3:c.1627G>A, NM_001323033.2:c.1627G>A, NM_001323033.1:c.1627G>A, NM_001323040.3:c.1507G>A, NM_001323040.2:c.1507G>A, NM_001323040.1:c.1507G>A, NM_001323036.3:c.1531G>A, NM_001323036.2:c.1531G>A, NM_001323036.1:c.1531G>A, NM_001167580.3:c.1507G>A, NM_001167580.2:c.1507G>A, NM_001167580.1:c.1507G>A, NM_001323031.2:c.1960G>A, NM_001323031.1:c.1960G>A, XM_005254998.4:c.1960G>A, XM_005254998.3:c.1960G>A, XM_005254998.2:c.1960G>A, XM_005254998.1:c.1960G>A, XM_017022762.2:c.1960G>A, XM_017022762.1:c.1960G>A, XM_017022761.2:c.1960G>A, XM_017022761.1:c.1960G>A, XM_047433392.1:c.1960G>A, NP_055663.1:p.Val654Met, NP_001309968.1:p.Val654Met, NP_001309966.1:p.Val654Met, NP_001309967.1:p.Val654Met, NP_001309961.1:p.Val654Met, NP_001309963.1:p.Val587Met, NP_001309962.1:p.Val543Met, NP_001309969.1:p.Val503Met, NP_001309965.1:p.Val511Met, NP_001161052.1:p.Val503Met, NP_001309960.1:p.Val654Met, XP_005255055.1:p.Val654Met, XP_016878251.1:p.Val654Met, XP_016878250.1:p.Val654Met, XP_047289348.1:p.Val654Met

                                        20.

                                        rs1466460464 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          15:91284103 (GRCh38)
                                          15:91827333 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:91284102:G:T
                                          Gene:
                                          SV2B (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.91284103G>T, NC_000015.9:g.91827333G>T, NG_051558.1:g.189383G>T, NM_014848.7:c.1590G>T, NM_014848.6:c.1590G>T, NM_014848.5:c.1590G>T, NM_014848.4:c.1590G>T, NM_001323039.3:c.1590G>T, NM_001323039.2:c.1590G>T, NM_001323039.1:c.1590G>T, NM_001323037.3:c.1590G>T, NM_001323037.2:c.1590G>T, NM_001323037.1:c.1590G>T, NM_001323038.3:c.1590G>T, NM_001323038.2:c.1590G>T, NM_001323038.1:c.1590G>T, NM_001323032.3:c.1590G>T, NM_001323032.2:c.1590G>T, NM_001323032.1:c.1590G>T, NM_001323033.3:c.1257G>T, NM_001323033.2:c.1257G>T, NM_001323033.1:c.1257G>T, NM_001323040.3:c.1137G>T, NM_001323040.2:c.1137G>T, NM_001323040.1:c.1137G>T, NM_001323036.3:c.1161G>T, NM_001323036.2:c.1161G>T, NM_001323036.1:c.1161G>T, NM_001167580.3:c.1137G>T, NM_001167580.2:c.1137G>T, NM_001167580.1:c.1137G>T, NM_001323031.2:c.1590G>T, NM_001323031.1:c.1590G>T, XM_005254998.4:c.1590G>T, XM_005254998.3:c.1590G>T, XM_005254998.2:c.1590G>T, XM_005254998.1:c.1590G>T, XM_017022762.2:c.1590G>T, XM_017022762.1:c.1590G>T, XM_017022761.2:c.1590G>T, XM_017022761.1:c.1590G>T, XM_047433392.1:c.1590G>T, NP_055663.1:p.Leu530Phe, NP_001309968.1:p.Leu530Phe, NP_001309966.1:p.Leu530Phe, NP_001309967.1:p.Leu530Phe, NP_001309961.1:p.Leu530Phe, NP_001309962.1:p.Leu419Phe, NP_001309969.1:p.Leu379Phe, NP_001309965.1:p.Leu387Phe, NP_001161052.1:p.Leu379Phe, NP_001309960.1:p.Leu530Phe, XP_005255055.1:p.Leu530Phe, XP_016878251.1:p.Leu530Phe, XP_016878250.1:p.Leu530Phe, XP_047289348.1:p.Leu530Phe

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