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Items: 1 to 20 of 578

1.

rs1489232815 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:13869577 (GRCh38)
    20:13850223 (GRCh37)
    Canonical SPDI:
    NC_000020.11:13869576:G:A
    Gene:
    SEL1L2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000020.11:g.13869577G>A, NC_000020.10:g.13850223G>A, NW_025791811.1:g.78128G>A, XM_006723654.5:c.173C>T, XM_006723654.4:c.173C>T, XM_006723654.3:c.173C>T, XM_006723654.2:c.173C>T, XM_006723654.1:c.173C>T, XM_006723646.4:c.1181C>T, XM_006723646.3:c.1181C>T, XM_006723646.2:c.1181C>T, XM_006723646.1:c.1181C>T, XM_006723648.4:c.1124C>T, XM_006723648.3:c.1124C>T, XM_006723648.2:c.1124C>T, XM_006723648.1:c.1124C>T, XM_006723652.4:c.1181C>T, XM_006723652.3:c.1181C>T, XM_006723652.2:c.1181C>T, XM_006723652.1:c.1181C>T, XM_006723650.3:c.1181C>T, XM_006723650.2:c.1181C>T, XM_006723650.1:c.1181C>T, XM_011529374.3:c.1121C>T, XM_011529374.2:c.1121C>T, XM_011529374.1:c.1121C>T, XM_011529375.3:c.1070C>T, XM_011529375.2:c.1070C>T, XM_011529375.1:c.1070C>T, XM_011529376.3:c.1013C>T, XM_011529376.2:c.1013C>T, XM_011529376.1:c.1013C>T, XM_006723651.3:c.1181C>T, XM_006723651.2:c.1181C>T, XM_006723651.1:c.1181C>T, XM_011529379.3:c.764C>T, XM_011529379.2:c.764C>T, XM_011529379.1:c.764C>T, XM_011529378.3:c.845C>T, XM_011529378.2:c.845C>T, XM_011529378.1:c.845C>T, NR_073206.2:n.1382C>T, NR_073206.1:n.1387C>T, NR_073207.2:n.1434C>T, NR_073207.1:n.1434C>T, NM_025229.2:c.1181C>T, NM_025229.1:c.1181C>T, XM_024452003.2:c.845C>T, XM_024452003.1:c.845C>T, NM_001271539.2:c.1181C>T, NM_001271539.1:c.1181C>T, NM_001363752.2:c.788C>T, NM_001363752.1:c.788C>T, XR_937159.2:n.1261C>T, XR_937159.1:n.1268C>T, XR_937162.2:n.1261C>T, XR_937162.1:n.1268C>T, XR_937160.2:n.1261C>T, XR_937160.1:n.1268C>T, XR_937163.2:n.1386C>T, XR_937163.1:n.1393C>T, XM_047440520.1:c.926C>T, XM_047440522.1:c.1124C>T, XM_047440523.1:c.1181C>T, XM_047440524.1:c.1181C>T, XM_047440521.1:c.845C>T, XP_006723717.1:p.Ala58Val, XP_006723709.1:p.Ala394Val, XP_006723711.1:p.Ala375Val, XP_006723715.1:p.Ala394Val, XP_006723713.1:p.Ala394Val, XP_011527676.1:p.Ala374Val, XP_011527677.1:p.Ala357Val, XP_011527678.1:p.Ala338Val, XP_006723714.1:p.Ala394Val, XP_011527681.1:p.Ala255Val, XP_011527680.1:p.Ala282Val, NP_079505.1:p.Ala394Val, XP_024307771.1:p.Ala282Val, NP_001258468.1:p.Ala394Val, NP_001350681.1:p.Ala263Val, XP_047296476.1:p.Ala309Val, XP_047296478.1:p.Ala375Val, XP_047296479.1:p.Ala394Val, XP_047296480.1:p.Ala394Val, XP_047296477.1:p.Ala282Val

    2.

    rs1484441486 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      20:13886436 (GRCh38)
      20:13867082 (GRCh37)
      Canonical SPDI:
      NC_000020.11:13886435:T:G
      Gene:
      SEL1L2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_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_000020.11:g.13886436T>G, NC_000020.10:g.13867082T>G, NW_025791811.1:g.94987T>G, XM_006723646.4:c.752A>C, XM_006723646.3:c.752A>C, XM_006723646.2:c.752A>C, XM_006723646.1:c.752A>C, XM_006723648.4:c.752A>C, XM_006723648.3:c.752A>C, XM_006723648.2:c.752A>C, XM_006723648.1:c.752A>C, XM_006723652.4:c.752A>C, XM_006723652.3:c.752A>C, XM_006723652.2:c.752A>C, XM_006723652.1:c.752A>C, XM_006723650.3:c.752A>C, XM_006723650.2:c.752A>C, XM_006723650.1:c.752A>C, XM_011529374.3:c.692A>C, XM_011529374.2:c.692A>C, XM_011529374.1:c.692A>C, XM_011529375.3:c.752A>C, XM_011529375.2:c.752A>C, XM_011529375.1:c.752A>C, XM_011529376.3:c.752A>C, XM_011529376.2:c.752A>C, XM_011529376.1:c.752A>C, XM_006723651.3:c.752A>C, XM_006723651.2:c.752A>C, XM_006723651.1:c.752A>C, XM_011529379.3:c.335A>C, XM_011529379.2:c.335A>C, XM_011529379.1:c.335A>C, XM_011529378.3:c.416A>C, XM_011529378.2:c.416A>C, XM_011529378.1:c.416A>C, NR_073206.2:n.953A>C, NR_073206.1:n.958A>C, NR_073207.2:n.1005A>C, NR_073207.1:n.1005A>C, NM_025229.2:c.752A>C, NM_025229.1:c.752A>C, XM_024452003.2:c.416A>C, XM_024452003.1:c.416A>C, NM_001271539.2:c.752A>C, NM_001271539.1:c.752A>C, NM_001363752.2:c.416A>C, NM_001363752.1:c.416A>C, XR_937159.2:n.832A>C, XR_937159.1:n.839A>C, XR_937162.2:n.832A>C, XR_937162.1:n.839A>C, XR_937160.2:n.832A>C, XR_937160.1:n.839A>C, XR_937163.2:n.832A>C, XR_937163.1:n.839A>C, XM_047440521.1:c.416A>C, XM_047440520.1:c.497A>C, XM_047440522.1:c.752A>C, XM_047440523.1:c.752A>C, XM_047440524.1:c.752A>C, XP_006723709.1:p.Asp251Ala, XP_006723711.1:p.Asp251Ala, XP_006723715.1:p.Asp251Ala, XP_006723713.1:p.Asp251Ala, XP_011527676.1:p.Asp231Ala, XP_011527677.1:p.Asp251Ala, XP_011527678.1:p.Asp251Ala, XP_006723714.1:p.Asp251Ala, XP_011527681.1:p.Asp112Ala, XP_011527680.1:p.Asp139Ala, NP_079505.1:p.Asp251Ala, XP_024307771.1:p.Asp139Ala, NP_001258468.1:p.Asp251Ala, NP_001350681.1:p.Asp139Ala, XP_047296477.1:p.Asp139Ala, XP_047296476.1:p.Asp166Ala, XP_047296478.1:p.Asp251Ala, XP_047296479.1:p.Asp251Ala, XP_047296480.1:p.Asp251Ala

      3.

      rs1479822491 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:13931708 (GRCh38)
        20:13912354 (GRCh37)
        Canonical SPDI:
        NC_000020.11:13931707:C:T
        Gene:
        SEL1L2 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.13931708C>T, NC_000020.10:g.13912354C>T, NW_025791811.1:g.140259C>T, XM_006723646.4:c.178G>A, XM_006723646.3:c.178G>A, XM_006723646.2:c.178G>A, XM_006723646.1:c.178G>A, XM_006723648.4:c.178G>A, XM_006723648.3:c.178G>A, XM_006723648.2:c.178G>A, XM_006723648.1:c.178G>A, XM_006723652.4:c.178G>A, XM_006723652.3:c.178G>A, XM_006723652.2:c.178G>A, XM_006723652.1:c.178G>A, XM_006723650.3:c.178G>A, XM_006723650.2:c.178G>A, XM_006723650.1:c.178G>A, XM_011529374.3:c.178G>A, XM_011529374.2:c.178G>A, XM_011529374.1:c.178G>A, XM_011529375.3:c.178G>A, XM_011529375.2:c.178G>A, XM_011529375.1:c.178G>A, XM_011529376.3:c.178G>A, XM_011529376.2:c.178G>A, XM_011529376.1:c.178G>A, XM_006723651.3:c.178G>A, XM_006723651.2:c.178G>A, XM_006723651.1:c.178G>A, NR_073206.2:n.258G>A, NR_073206.1:n.263G>A, NR_073207.2:n.431G>A, NR_073207.1:n.431G>A, NM_025229.2:c.178G>A, NM_025229.1:c.178G>A, XM_024452003.2:c.-159G>A, XM_024452003.1:c.-159G>A, NM_001271539.2:c.178G>A, NM_001271539.1:c.178G>A, NM_001363752.2:c.-159G>A, NM_001363752.1:c.-159G>A, XR_937159.2:n.258G>A, XR_937159.1:n.265G>A, XR_937162.2:n.258G>A, XR_937162.1:n.265G>A, XR_937160.2:n.258G>A, XR_937160.1:n.265G>A, XR_937163.2:n.258G>A, XR_937163.1:n.265G>A, XM_047440521.1:c.-159G>A, XM_047440523.1:c.178G>A, XM_047440524.1:c.178G>A, XM_047440522.1:c.178G>A, XP_006723709.1:p.Val60Ile, XP_006723711.1:p.Val60Ile, XP_006723715.1:p.Val60Ile, XP_006723713.1:p.Val60Ile, XP_011527676.1:p.Val60Ile, XP_011527677.1:p.Val60Ile, XP_011527678.1:p.Val60Ile, XP_006723714.1:p.Val60Ile, NP_079505.1:p.Val60Ile, NP_001258468.1:p.Val60Ile, XP_047296479.1:p.Val60Ile, XP_047296480.1:p.Val60Ile, XP_047296478.1:p.Val60Ile

        4.

        rs1479430261 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          20:13931736 (GRCh38)
          20:13912382 (GRCh37)
          Canonical SPDI:
          NC_000020.11:13931735:G:A
          Gene:
          SEL1L2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000028/1 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000020.11:g.13931736G>A, NC_000020.10:g.13912382G>A, NW_025791811.1:g.140287G>A, XM_006723646.4:c.150C>T, XM_006723646.3:c.150C>T, XM_006723646.2:c.150C>T, XM_006723646.1:c.150C>T, XM_006723648.4:c.150C>T, XM_006723648.3:c.150C>T, XM_006723648.2:c.150C>T, XM_006723648.1:c.150C>T, XM_006723652.4:c.150C>T, XM_006723652.3:c.150C>T, XM_006723652.2:c.150C>T, XM_006723652.1:c.150C>T, XM_006723650.3:c.150C>T, XM_006723650.2:c.150C>T, XM_006723650.1:c.150C>T, XM_011529374.3:c.150C>T, XM_011529374.2:c.150C>T, XM_011529374.1:c.150C>T, XM_011529375.3:c.150C>T, XM_011529375.2:c.150C>T, XM_011529375.1:c.150C>T, XM_011529376.3:c.150C>T, XM_011529376.2:c.150C>T, XM_011529376.1:c.150C>T, XM_006723651.3:c.150C>T, XM_006723651.2:c.150C>T, XM_006723651.1:c.150C>T, NR_073206.2:n.230C>T, NR_073206.1:n.235C>T, NR_073207.2:n.403C>T, NR_073207.1:n.403C>T, NM_025229.2:c.150C>T, NM_025229.1:c.150C>T, XM_024452003.2:c.-187C>T, XM_024452003.1:c.-187C>T, NM_001271539.2:c.150C>T, NM_001271539.1:c.150C>T, NM_001363752.2:c.-187C>T, NM_001363752.1:c.-187C>T, XR_937159.2:n.230C>T, XR_937159.1:n.237C>T, XR_937162.2:n.230C>T, XR_937162.1:n.237C>T, XR_937160.2:n.230C>T, XR_937160.1:n.237C>T, XR_937163.2:n.230C>T, XR_937163.1:n.237C>T, XM_047440521.1:c.-187C>T, XM_047440523.1:c.150C>T, XM_047440524.1:c.150C>T, XM_047440522.1:c.150C>T

          5.

          rs1476887918 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:13869504 (GRCh38)
            20:13850150 (GRCh37)
            Canonical SPDI:
            NC_000020.11:13869503:G:A
            Gene:
            SEL1L2 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000020.11:g.13869504G>A, NC_000020.10:g.13850150G>A, NW_025791811.1:g.78055G>A, XM_006723654.5:c.246C>T, XM_006723654.4:c.246C>T, XM_006723654.3:c.246C>T, XM_006723654.2:c.246C>T, XM_006723654.1:c.246C>T, XM_006723646.4:c.1254C>T, XM_006723646.3:c.1254C>T, XM_006723646.2:c.1254C>T, XM_006723646.1:c.1254C>T, XM_006723648.4:c.1197C>T, XM_006723648.3:c.1197C>T, XM_006723648.2:c.1197C>T, XM_006723648.1:c.1197C>T, XM_006723652.4:c.1254C>T, XM_006723652.3:c.1254C>T, XM_006723652.2:c.1254C>T, XM_006723652.1:c.1254C>T, XM_006723650.3:c.1254C>T, XM_006723650.2:c.1254C>T, XM_006723650.1:c.1254C>T, XM_011529374.3:c.1194C>T, XM_011529374.2:c.1194C>T, XM_011529374.1:c.1194C>T, XM_011529375.3:c.1143C>T, XM_011529375.2:c.1143C>T, XM_011529375.1:c.1143C>T, XM_011529376.3:c.1086C>T, XM_011529376.2:c.1086C>T, XM_011529376.1:c.1086C>T, XM_006723651.3:c.1254C>T, XM_006723651.2:c.1254C>T, XM_006723651.1:c.1254C>T, XM_011529379.3:c.837C>T, XM_011529379.2:c.837C>T, XM_011529379.1:c.837C>T, XM_011529378.3:c.918C>T, XM_011529378.2:c.918C>T, XM_011529378.1:c.918C>T, NR_073206.2:n.1455C>T, NR_073206.1:n.1460C>T, NR_073207.2:n.1507C>T, NR_073207.1:n.1507C>T, NM_025229.2:c.1254C>T, NM_025229.1:c.1254C>T, XM_024452003.2:c.918C>T, XM_024452003.1:c.918C>T, NM_001271539.2:c.1254C>T, NM_001271539.1:c.1254C>T, NM_001363752.2:c.861C>T, NM_001363752.1:c.861C>T, XR_937159.2:n.1334C>T, XR_937159.1:n.1341C>T, XR_937162.2:n.1334C>T, XR_937162.1:n.1341C>T, XR_937160.2:n.1334C>T, XR_937160.1:n.1341C>T, XM_047440521.1:c.918C>T, XM_047440520.1:c.999C>T, XM_047440523.1:c.1254C>T, XM_047440524.1:c.1254C>T, XM_047440522.1:c.1197C>T

            6.

            rs1475471664 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:13866776 (GRCh38)
              20:13847422 (GRCh37)
              Canonical SPDI:
              NC_000020.11:13866775:G:A
              Gene:
              SEL1L2 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
              HGVS:
              NC_000020.11:g.13866776G>A, NC_000020.10:g.13847422G>A, NW_025791811.1:g.75327G>A, XM_006723654.5:c.322C>T, XM_006723654.4:c.322C>T, XM_006723654.3:c.322C>T, XM_006723654.2:c.322C>T, XM_006723654.1:c.322C>T, XM_006723646.4:c.1330C>T, XM_006723646.3:c.1330C>T, XM_006723646.2:c.1330C>T, XM_006723646.1:c.1330C>T, XM_006723648.4:c.1273C>T, XM_006723648.3:c.1273C>T, XM_006723648.2:c.1273C>T, XM_006723648.1:c.1273C>T, XM_006723652.4:c.1330C>T, XM_006723652.3:c.1330C>T, XM_006723652.2:c.1330C>T, XM_006723652.1:c.1330C>T, XM_006723650.3:c.1330C>T, XM_006723650.2:c.1330C>T, XM_006723650.1:c.1330C>T, XM_011529374.3:c.1270C>T, XM_011529374.2:c.1270C>T, XM_011529374.1:c.1270C>T, XM_011529375.3:c.1219C>T, XM_011529375.2:c.1219C>T, XM_011529375.1:c.1219C>T, XM_011529376.3:c.1162C>T, XM_011529376.2:c.1162C>T, XM_011529376.1:c.1162C>T, XM_006723651.3:c.1330C>T, XM_006723651.2:c.1330C>T, XM_006723651.1:c.1330C>T, XM_011529379.3:c.913C>T, XM_011529379.2:c.913C>T, XM_011529379.1:c.913C>T, XM_011529378.3:c.994C>T, XM_011529378.2:c.994C>T, XM_011529378.1:c.994C>T, NR_073206.2:n.1531C>T, NR_073206.1:n.1536C>T, NR_073207.2:n.1583C>T, NR_073207.1:n.1583C>T, NM_025229.2:c.1330C>T, NM_025229.1:c.1330C>T, XM_024452003.2:c.994C>T, XM_024452003.1:c.994C>T, NM_001271539.2:c.1330C>T, NM_001271539.1:c.1330C>T, NM_001363752.2:c.937C>T, NM_001363752.1:c.937C>T, XR_937159.2:n.1410C>T, XR_937159.1:n.1417C>T, XR_937162.2:n.1410C>T, XR_937162.1:n.1417C>T, XR_937160.2:n.1410C>T, XR_937160.1:n.1417C>T, XM_047440521.1:c.994C>T, XM_047440520.1:c.1075C>T, XM_047440523.1:c.1330C>T, XM_047440522.1:c.1273C>T, XP_006723717.1:p.Leu108Phe, XP_006723709.1:p.Leu444Phe, XP_006723711.1:p.Leu425Phe, XP_006723715.1:p.Leu444Phe, XP_006723713.1:p.Leu444Phe, XP_011527676.1:p.Leu424Phe, XP_011527677.1:p.Leu407Phe, XP_011527678.1:p.Leu388Phe, XP_006723714.1:p.Leu444Phe, XP_011527681.1:p.Leu305Phe, XP_011527680.1:p.Leu332Phe, NP_079505.1:p.Leu444Phe, XP_024307771.1:p.Leu332Phe, NP_001258468.1:p.Leu444Phe, NP_001350681.1:p.Leu313Phe, XP_047296477.1:p.Leu332Phe, XP_047296476.1:p.Leu359Phe, XP_047296479.1:p.Leu444Phe, XP_047296478.1:p.Leu425Phe

              7.

              rs1473607415 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:13866709 (GRCh38)
                20:13847355 (GRCh37)
                Canonical SPDI:
                NC_000020.11:13866708:G:A
                Gene:
                SEL1L2 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000020.11:g.13866709G>A, NC_000020.10:g.13847355G>A, NW_025791811.1:g.75260G>A, XM_006723654.5:c.389C>T, XM_006723654.4:c.389C>T, XM_006723654.3:c.389C>T, XM_006723654.2:c.389C>T, XM_006723654.1:c.389C>T, XM_006723646.4:c.1397C>T, XM_006723646.3:c.1397C>T, XM_006723646.2:c.1397C>T, XM_006723646.1:c.1397C>T, XM_006723648.4:c.1340C>T, XM_006723648.3:c.1340C>T, XM_006723648.2:c.1340C>T, XM_006723648.1:c.1340C>T, XM_006723652.4:c.1397C>T, XM_006723652.3:c.1397C>T, XM_006723652.2:c.1397C>T, XM_006723652.1:c.1397C>T, XM_006723650.3:c.1397C>T, XM_006723650.2:c.1397C>T, XM_006723650.1:c.1397C>T, XM_011529374.3:c.1337C>T, XM_011529374.2:c.1337C>T, XM_011529374.1:c.1337C>T, XM_011529375.3:c.1286C>T, XM_011529375.2:c.1286C>T, XM_011529375.1:c.1286C>T, XM_011529376.3:c.1229C>T, XM_011529376.2:c.1229C>T, XM_011529376.1:c.1229C>T, XM_006723651.3:c.1397C>T, XM_006723651.2:c.1397C>T, XM_006723651.1:c.1397C>T, XM_011529379.3:c.980C>T, XM_011529379.2:c.980C>T, XM_011529379.1:c.980C>T, XM_011529378.3:c.1061C>T, XM_011529378.2:c.1061C>T, XM_011529378.1:c.1061C>T, NR_073206.2:n.1598C>T, NR_073206.1:n.1603C>T, NR_073207.2:n.1650C>T, NR_073207.1:n.1650C>T, NM_025229.2:c.1397C>T, NM_025229.1:c.1397C>T, XM_024452003.2:c.1061C>T, XM_024452003.1:c.1061C>T, NM_001271539.2:c.1397C>T, NM_001271539.1:c.1397C>T, NM_001363752.2:c.1004C>T, NM_001363752.1:c.1004C>T, XR_937159.2:n.1477C>T, XR_937159.1:n.1484C>T, XR_937162.2:n.1477C>T, XR_937162.1:n.1484C>T, XR_937160.2:n.1477C>T, XR_937160.1:n.1484C>T, XM_047440521.1:c.1061C>T, XM_047440520.1:c.1142C>T, XM_047440523.1:c.1397C>T, XM_047440522.1:c.1340C>T, XP_006723717.1:p.Ala130Val, XP_006723709.1:p.Ala466Val, XP_006723711.1:p.Ala447Val, XP_006723715.1:p.Ala466Val, XP_006723713.1:p.Ala466Val, XP_011527676.1:p.Ala446Val, XP_011527677.1:p.Ala429Val, XP_011527678.1:p.Ala410Val, XP_006723714.1:p.Ala466Val, XP_011527681.1:p.Ala327Val, XP_011527680.1:p.Ala354Val, NP_079505.1:p.Ala466Val, XP_024307771.1:p.Ala354Val, NP_001258468.1:p.Ala466Val, NP_001350681.1:p.Ala335Val, XP_047296477.1:p.Ala354Val, XP_047296476.1:p.Ala381Val, XP_047296479.1:p.Ala466Val, XP_047296478.1:p.Ala447Val

                8.

                rs1472333974 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  20:13866797 (GRCh38)
                  20:13847443 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:13866796:C:A
                  Gene:
                  SEL1L2 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.13866797C>A, NC_000020.10:g.13847443C>A, NW_025791811.1:g.75348C>A, XM_006723654.5:c.301G>T, XM_006723654.4:c.301G>T, XM_006723654.3:c.301G>T, XM_006723654.2:c.301G>T, XM_006723654.1:c.301G>T, XM_006723646.4:c.1309G>T, XM_006723646.3:c.1309G>T, XM_006723646.2:c.1309G>T, XM_006723646.1:c.1309G>T, XM_006723648.4:c.1252G>T, XM_006723648.3:c.1252G>T, XM_006723648.2:c.1252G>T, XM_006723648.1:c.1252G>T, XM_006723652.4:c.1309G>T, XM_006723652.3:c.1309G>T, XM_006723652.2:c.1309G>T, XM_006723652.1:c.1309G>T, XM_006723650.3:c.1309G>T, XM_006723650.2:c.1309G>T, XM_006723650.1:c.1309G>T, XM_011529374.3:c.1249G>T, XM_011529374.2:c.1249G>T, XM_011529374.1:c.1249G>T, XM_011529375.3:c.1198G>T, XM_011529375.2:c.1198G>T, XM_011529375.1:c.1198G>T, XM_011529376.3:c.1141G>T, XM_011529376.2:c.1141G>T, XM_011529376.1:c.1141G>T, XM_006723651.3:c.1309G>T, XM_006723651.2:c.1309G>T, XM_006723651.1:c.1309G>T, XM_011529379.3:c.892G>T, XM_011529379.2:c.892G>T, XM_011529379.1:c.892G>T, XM_011529378.3:c.973G>T, XM_011529378.2:c.973G>T, XM_011529378.1:c.973G>T, NR_073206.2:n.1510G>T, NR_073206.1:n.1515G>T, NR_073207.2:n.1562G>T, NR_073207.1:n.1562G>T, NM_025229.2:c.1309G>T, NM_025229.1:c.1309G>T, XM_024452003.2:c.973G>T, XM_024452003.1:c.973G>T, NM_001271539.2:c.1309G>T, NM_001271539.1:c.1309G>T, NM_001363752.2:c.916G>T, NM_001363752.1:c.916G>T, XR_937159.2:n.1389G>T, XR_937159.1:n.1396G>T, XR_937162.2:n.1389G>T, XR_937162.1:n.1396G>T, XR_937160.2:n.1389G>T, XR_937160.1:n.1396G>T, XM_047440521.1:c.973G>T, XM_047440520.1:c.1054G>T, XM_047440523.1:c.1309G>T, XM_047440522.1:c.1252G>T, XP_006723717.1:p.Ala101Ser, XP_006723709.1:p.Ala437Ser, XP_006723711.1:p.Ala418Ser, XP_006723715.1:p.Ala437Ser, XP_006723713.1:p.Ala437Ser, XP_011527676.1:p.Ala417Ser, XP_011527677.1:p.Ala400Ser, XP_011527678.1:p.Ala381Ser, XP_006723714.1:p.Ala437Ser, XP_011527681.1:p.Ala298Ser, XP_011527680.1:p.Ala325Ser, NP_079505.1:p.Ala437Ser, XP_024307771.1:p.Ala325Ser, NP_001258468.1:p.Ala437Ser, NP_001350681.1:p.Ala306Ser, XP_047296477.1:p.Ala325Ser, XP_047296476.1:p.Ala352Ser, XP_047296479.1:p.Ala437Ser, XP_047296478.1:p.Ala418Ser

                  9.

                  rs1471859114 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:13870142 (GRCh38)
                    20:13850788 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:13870141:A:G
                    Gene:
                    SEL1L2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.13870142A>G, NC_000020.10:g.13850788A>G, NW_025791811.1:g.78693A>G, XM_006723654.5:c.158T>C, XM_006723654.4:c.158T>C, XM_006723654.3:c.158T>C, XM_006723654.2:c.158T>C, XM_006723654.1:c.158T>C, XM_006723646.4:c.1166T>C, XM_006723646.3:c.1166T>C, XM_006723646.2:c.1166T>C, XM_006723646.1:c.1166T>C, XM_006723648.4:c.1109T>C, XM_006723648.3:c.1109T>C, XM_006723648.2:c.1109T>C, XM_006723648.1:c.1109T>C, XM_006723652.4:c.1166T>C, XM_006723652.3:c.1166T>C, XM_006723652.2:c.1166T>C, XM_006723652.1:c.1166T>C, XM_006723650.3:c.1166T>C, XM_006723650.2:c.1166T>C, XM_006723650.1:c.1166T>C, XM_011529374.3:c.1106T>C, XM_011529374.2:c.1106T>C, XM_011529374.1:c.1106T>C, XM_011529375.3:c.1055T>C, XM_011529375.2:c.1055T>C, XM_011529375.1:c.1055T>C, XM_011529376.3:c.998T>C, XM_011529376.2:c.998T>C, XM_011529376.1:c.998T>C, XM_006723651.3:c.1166T>C, XM_006723651.2:c.1166T>C, XM_006723651.1:c.1166T>C, XM_011529379.3:c.749T>C, XM_011529379.2:c.749T>C, XM_011529379.1:c.749T>C, XM_011529378.3:c.830T>C, XM_011529378.2:c.830T>C, XM_011529378.1:c.830T>C, NR_073206.2:n.1367T>C, NR_073206.1:n.1372T>C, NR_073207.2:n.1419T>C, NR_073207.1:n.1419T>C, NM_025229.2:c.1166T>C, NM_025229.1:c.1166T>C, XM_024452003.2:c.830T>C, XM_024452003.1:c.830T>C, NM_001271539.2:c.1166T>C, NM_001271539.1:c.1166T>C, NM_001363752.2:c.773T>C, NM_001363752.1:c.773T>C, XR_937159.2:n.1246T>C, XR_937159.1:n.1253T>C, XR_937162.2:n.1246T>C, XR_937162.1:n.1253T>C, XR_937160.2:n.1246T>C, XR_937160.1:n.1253T>C, XR_937163.2:n.1371T>C, XR_937163.1:n.1378T>C, XM_047440521.1:c.830T>C, XM_047440520.1:c.911T>C, XM_047440522.1:c.1109T>C, XM_047440523.1:c.1166T>C, XM_047440524.1:c.1166T>C, XP_006723717.1:p.Leu53Pro, XP_006723709.1:p.Leu389Pro, XP_006723711.1:p.Leu370Pro, XP_006723715.1:p.Leu389Pro, XP_006723713.1:p.Leu389Pro, XP_011527676.1:p.Leu369Pro, XP_011527677.1:p.Leu352Pro, XP_011527678.1:p.Leu333Pro, XP_006723714.1:p.Leu389Pro, XP_011527681.1:p.Leu250Pro, XP_011527680.1:p.Leu277Pro, NP_079505.1:p.Leu389Pro, XP_024307771.1:p.Leu277Pro, NP_001258468.1:p.Leu389Pro, NP_001350681.1:p.Leu258Pro, XP_047296477.1:p.Leu277Pro, XP_047296476.1:p.Leu304Pro, XP_047296478.1:p.Leu370Pro, XP_047296479.1:p.Leu389Pro, XP_047296480.1:p.Leu389Pro

                    10.

                    rs1469242996 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:13919088 (GRCh38)
                      20:13899734 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:13919087:C:T
                      Gene:
                      SEL1L2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000020.11:g.13919088C>T, NC_000020.10:g.13899734C>T, NW_025791811.1:g.127639C>T, XM_006723646.4:c.319G>A, XM_006723646.3:c.319G>A, XM_006723646.2:c.319G>A, XM_006723646.1:c.319G>A, XM_006723648.4:c.319G>A, XM_006723648.3:c.319G>A, XM_006723648.2:c.319G>A, XM_006723648.1:c.319G>A, XM_006723652.4:c.319G>A, XM_006723652.3:c.319G>A, XM_006723652.2:c.319G>A, XM_006723652.1:c.319G>A, XM_006723650.3:c.319G>A, XM_006723650.2:c.319G>A, XM_006723650.1:c.319G>A, XM_011529374.3:c.319G>A, XM_011529374.2:c.319G>A, XM_011529374.1:c.319G>A, XM_011529375.3:c.319G>A, XM_011529375.2:c.319G>A, XM_011529375.1:c.319G>A, XM_011529376.3:c.319G>A, XM_011529376.2:c.319G>A, XM_011529376.1:c.319G>A, XM_006723651.3:c.319G>A, XM_006723651.2:c.319G>A, XM_006723651.1:c.319G>A, XM_011529379.3:c.-220G>A, XM_011529379.2:c.-220G>A, XM_011529379.1:c.-220G>A, XM_011529378.3:c.-18G>A, XM_011529378.2:c.-18G>A, XM_011529378.1:c.-18G>A, NR_073206.2:n.399G>A, NR_073206.1:n.404G>A, NR_073207.2:n.572G>A, NR_073207.1:n.572G>A, NM_025229.2:c.319G>A, NM_025229.1:c.319G>A, XM_024452003.2:c.-18G>A, XM_024452003.1:c.-18G>A, NM_001271539.2:c.319G>A, NM_001271539.1:c.319G>A, NM_001363752.2:c.-18G>A, NM_001363752.1:c.-18G>A, XR_937159.2:n.399G>A, XR_937159.1:n.406G>A, XR_937162.2:n.399G>A, XR_937162.1:n.406G>A, XR_937160.2:n.399G>A, XR_937160.1:n.406G>A, XR_937163.2:n.399G>A, XR_937163.1:n.406G>A, XM_047440521.1:c.-18G>A, XM_047440520.1:c.64G>A, XM_047440522.1:c.319G>A, XM_047440523.1:c.319G>A, XM_047440524.1:c.319G>A, XP_006723709.1:p.Gly107Arg, XP_006723711.1:p.Gly107Arg, XP_006723715.1:p.Gly107Arg, XP_006723713.1:p.Gly107Arg, XP_011527676.1:p.Gly107Arg, XP_011527677.1:p.Gly107Arg, XP_011527678.1:p.Gly107Arg, XP_006723714.1:p.Gly107Arg, NP_079505.1:p.Gly107Arg, NP_001258468.1:p.Gly107Arg, XP_047296476.1:p.Gly22Arg, XP_047296478.1:p.Gly107Arg, XP_047296479.1:p.Gly107Arg, XP_047296480.1:p.Gly107Arg

                      11.

                      rs1461940235 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        20:13866719 (GRCh38)
                        20:13847365 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:13866718:A:G,NC_000020.11:13866718:A:T
                        Gene:
                        SEL1L2 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000047/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000020.11:g.13866719A>G, NC_000020.11:g.13866719A>T, NC_000020.10:g.13847365A>G, NC_000020.10:g.13847365A>T, NW_025791811.1:g.75270A>G, NW_025791811.1:g.75270A>T, XM_006723654.5:c.379T>C, XM_006723654.5:c.379T>A, XM_006723654.4:c.379T>C, XM_006723654.4:c.379T>A, XM_006723654.3:c.379T>C, XM_006723654.3:c.379T>A, XM_006723654.2:c.379T>C, XM_006723654.2:c.379T>A, XM_006723654.1:c.379T>C, XM_006723654.1:c.379T>A, XM_006723646.4:c.1387T>C, XM_006723646.4:c.1387T>A, XM_006723646.3:c.1387T>C, XM_006723646.3:c.1387T>A, XM_006723646.2:c.1387T>C, XM_006723646.2:c.1387T>A, XM_006723646.1:c.1387T>C, XM_006723646.1:c.1387T>A, XM_006723648.4:c.1330T>C, XM_006723648.4:c.1330T>A, XM_006723648.3:c.1330T>C, XM_006723648.3:c.1330T>A, XM_006723648.2:c.1330T>C, XM_006723648.2:c.1330T>A, XM_006723648.1:c.1330T>C, XM_006723648.1:c.1330T>A, XM_006723652.4:c.1387T>C, XM_006723652.4:c.1387T>A, XM_006723652.3:c.1387T>C, XM_006723652.3:c.1387T>A, XM_006723652.2:c.1387T>C, XM_006723652.2:c.1387T>A, XM_006723652.1:c.1387T>C, XM_006723652.1:c.1387T>A, XM_006723650.3:c.1387T>C, XM_006723650.3:c.1387T>A, XM_006723650.2:c.1387T>C, XM_006723650.2:c.1387T>A, XM_006723650.1:c.1387T>C, XM_006723650.1:c.1387T>A, XM_011529374.3:c.1327T>C, XM_011529374.3:c.1327T>A, XM_011529374.2:c.1327T>C, XM_011529374.2:c.1327T>A, XM_011529374.1:c.1327T>C, XM_011529374.1:c.1327T>A, XM_011529375.3:c.1276T>C, XM_011529375.3:c.1276T>A, XM_011529375.2:c.1276T>C, XM_011529375.2:c.1276T>A, XM_011529375.1:c.1276T>C, XM_011529375.1:c.1276T>A, XM_011529376.3:c.1219T>C, XM_011529376.3:c.1219T>A, XM_011529376.2:c.1219T>C, XM_011529376.2:c.1219T>A, XM_011529376.1:c.1219T>C, XM_011529376.1:c.1219T>A, XM_006723651.3:c.1387T>C, XM_006723651.3:c.1387T>A, XM_006723651.2:c.1387T>C, XM_006723651.2:c.1387T>A, XM_006723651.1:c.1387T>C, XM_006723651.1:c.1387T>A, XM_011529379.3:c.970T>C, XM_011529379.3:c.970T>A, XM_011529379.2:c.970T>C, XM_011529379.2:c.970T>A, XM_011529379.1:c.970T>C, XM_011529379.1:c.970T>A, XM_011529378.3:c.1051T>C, XM_011529378.3:c.1051T>A, XM_011529378.2:c.1051T>C, XM_011529378.2:c.1051T>A, XM_011529378.1:c.1051T>C, XM_011529378.1:c.1051T>A, NR_073206.2:n.1588T>C, NR_073206.2:n.1588T>A, NR_073206.1:n.1593T>C, NR_073206.1:n.1593T>A, NR_073207.2:n.1640T>C, NR_073207.2:n.1640T>A, NR_073207.1:n.1640T>C, NR_073207.1:n.1640T>A, NM_025229.2:c.1387T>C, NM_025229.2:c.1387T>A, NM_025229.1:c.1387T>C, NM_025229.1:c.1387T>A, XM_024452003.2:c.1051T>C, XM_024452003.2:c.1051T>A, XM_024452003.1:c.1051T>C, XM_024452003.1:c.1051T>A, NM_001271539.2:c.1387T>C, NM_001271539.2:c.1387T>A, NM_001271539.1:c.1387T>C, NM_001271539.1:c.1387T>A, NM_001363752.2:c.994T>C, NM_001363752.2:c.994T>A, NM_001363752.1:c.994T>C, NM_001363752.1:c.994T>A, XR_937159.2:n.1467T>C, XR_937159.2:n.1467T>A, XR_937159.1:n.1474T>C, XR_937159.1:n.1474T>A, XR_937162.2:n.1467T>C, XR_937162.2:n.1467T>A, XR_937162.1:n.1474T>C, XR_937162.1:n.1474T>A, XR_937160.2:n.1467T>C, XR_937160.2:n.1467T>A, XR_937160.1:n.1474T>C, XR_937160.1:n.1474T>A, XM_047440521.1:c.1051T>C, XM_047440521.1:c.1051T>A, XM_047440520.1:c.1132T>C, XM_047440520.1:c.1132T>A, XM_047440523.1:c.1387T>C, XM_047440523.1:c.1387T>A, XM_047440522.1:c.1330T>C, XM_047440522.1:c.1330T>A, XP_006723717.1:p.Cys127Arg, XP_006723717.1:p.Cys127Ser, XP_006723709.1:p.Cys463Arg, XP_006723709.1:p.Cys463Ser, XP_006723711.1:p.Cys444Arg, XP_006723711.1:p.Cys444Ser, XP_006723715.1:p.Cys463Arg, XP_006723715.1:p.Cys463Ser, XP_006723713.1:p.Cys463Arg, XP_006723713.1:p.Cys463Ser, XP_011527676.1:p.Cys443Arg, XP_011527676.1:p.Cys443Ser, XP_011527677.1:p.Cys426Arg, XP_011527677.1:p.Cys426Ser, XP_011527678.1:p.Cys407Arg, XP_011527678.1:p.Cys407Ser, XP_006723714.1:p.Cys463Arg, XP_006723714.1:p.Cys463Ser, XP_011527681.1:p.Cys324Arg, XP_011527681.1:p.Cys324Ser, XP_011527680.1:p.Cys351Arg, XP_011527680.1:p.Cys351Ser, NP_079505.1:p.Cys463Arg, NP_079505.1:p.Cys463Ser, XP_024307771.1:p.Cys351Arg, XP_024307771.1:p.Cys351Ser, NP_001258468.1:p.Cys463Arg, NP_001258468.1:p.Cys463Ser, NP_001350681.1:p.Cys332Arg, NP_001350681.1:p.Cys332Ser, XP_047296477.1:p.Cys351Arg, XP_047296477.1:p.Cys351Ser, XP_047296476.1:p.Cys378Arg, XP_047296476.1:p.Cys378Ser, XP_047296479.1:p.Cys463Arg, XP_047296479.1:p.Cys463Ser, XP_047296478.1:p.Cys444Arg, XP_047296478.1:p.Cys444Ser

                        12.

                        rs1461447302 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          20:13931625 (GRCh38)
                          20:13912271 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:13931624:G:T
                          Gene:
                          SEL1L2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.00005/1 (ALFA)
                          HGVS:
                          NC_000020.11:g.13931625G>T, NC_000020.10:g.13912271G>T, NW_025791811.1:g.140176G>T, XM_006723646.4:c.261C>A, XM_006723646.3:c.261C>A, XM_006723646.2:c.261C>A, XM_006723646.1:c.261C>A, XM_006723648.4:c.261C>A, XM_006723648.3:c.261C>A, XM_006723648.2:c.261C>A, XM_006723648.1:c.261C>A, XM_006723652.4:c.261C>A, XM_006723652.3:c.261C>A, XM_006723652.2:c.261C>A, XM_006723652.1:c.261C>A, XM_006723650.3:c.261C>A, XM_006723650.2:c.261C>A, XM_006723650.1:c.261C>A, XM_011529374.3:c.261C>A, XM_011529374.2:c.261C>A, XM_011529374.1:c.261C>A, XM_011529375.3:c.261C>A, XM_011529375.2:c.261C>A, XM_011529375.1:c.261C>A, XM_011529376.3:c.261C>A, XM_011529376.2:c.261C>A, XM_011529376.1:c.261C>A, XM_006723651.3:c.261C>A, XM_006723651.2:c.261C>A, XM_006723651.1:c.261C>A, NR_073206.2:n.341C>A, NR_073206.1:n.346C>A, NR_073207.2:n.514C>A, NR_073207.1:n.514C>A, NM_025229.2:c.261C>A, NM_025229.1:c.261C>A, XM_024452003.2:c.-76C>A, XM_024452003.1:c.-76C>A, NM_001271539.2:c.261C>A, NM_001271539.1:c.261C>A, NM_001363752.2:c.-76C>A, NM_001363752.1:c.-76C>A, XR_937159.2:n.341C>A, XR_937159.1:n.348C>A, XR_937162.2:n.341C>A, XR_937162.1:n.348C>A, XR_937160.2:n.341C>A, XR_937160.1:n.348C>A, XR_937163.2:n.341C>A, XR_937163.1:n.348C>A, XM_047440520.1:c.-83C>A, XM_047440522.1:c.261C>A, XM_047440523.1:c.261C>A, XM_047440524.1:c.261C>A, XM_047440521.1:c.-76C>A

                          13.

                          rs1460467813 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            20:13919060 (GRCh38)
                            20:13899706 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:13919059:T:G
                            Gene:
                            SEL1L2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000020.11:g.13919060T>G, NC_000020.10:g.13899706T>G, NW_025791811.1:g.127611T>G, XM_006723646.4:c.347A>C, XM_006723646.3:c.347A>C, XM_006723646.2:c.347A>C, XM_006723646.1:c.347A>C, XM_006723648.4:c.347A>C, XM_006723648.3:c.347A>C, XM_006723648.2:c.347A>C, XM_006723648.1:c.347A>C, XM_006723652.4:c.347A>C, XM_006723652.3:c.347A>C, XM_006723652.2:c.347A>C, XM_006723652.1:c.347A>C, XM_006723650.3:c.347A>C, XM_006723650.2:c.347A>C, XM_006723650.1:c.347A>C, XM_011529374.3:c.347A>C, XM_011529374.2:c.347A>C, XM_011529374.1:c.347A>C, XM_011529375.3:c.347A>C, XM_011529375.2:c.347A>C, XM_011529375.1:c.347A>C, XM_011529376.3:c.347A>C, XM_011529376.2:c.347A>C, XM_011529376.1:c.347A>C, XM_006723651.3:c.347A>C, XM_006723651.2:c.347A>C, XM_006723651.1:c.347A>C, XM_011529379.3:c.-192A>C, XM_011529379.2:c.-192A>C, XM_011529379.1:c.-192A>C, XM_011529378.3:c.11A>C, XM_011529378.2:c.11A>C, XM_011529378.1:c.11A>C, NR_073206.2:n.427A>C, NR_073206.1:n.432A>C, NR_073207.2:n.600A>C, NR_073207.1:n.600A>C, NM_025229.2:c.347A>C, NM_025229.1:c.347A>C, XM_024452003.2:c.11A>C, XM_024452003.1:c.11A>C, NM_001271539.2:c.347A>C, NM_001271539.1:c.347A>C, NM_001363752.2:c.11A>C, NM_001363752.1:c.11A>C, XR_937159.2:n.427A>C, XR_937159.1:n.434A>C, XR_937162.2:n.427A>C, XR_937162.1:n.434A>C, XR_937160.2:n.427A>C, XR_937160.1:n.434A>C, XR_937163.2:n.427A>C, XR_937163.1:n.434A>C, XM_047440521.1:c.11A>C, XM_047440520.1:c.92A>C, XM_047440522.1:c.347A>C, XM_047440523.1:c.347A>C, XM_047440524.1:c.347A>C, XP_006723709.1:p.Lys116Thr, XP_006723711.1:p.Lys116Thr, XP_006723715.1:p.Lys116Thr, XP_006723713.1:p.Lys116Thr, XP_011527676.1:p.Lys116Thr, XP_011527677.1:p.Lys116Thr, XP_011527678.1:p.Lys116Thr, XP_006723714.1:p.Lys116Thr, XP_011527680.1:p.Lys4Thr, NP_079505.1:p.Lys116Thr, XP_024307771.1:p.Lys4Thr, NP_001258468.1:p.Lys116Thr, NP_001350681.1:p.Lys4Thr, XP_047296477.1:p.Lys4Thr, XP_047296476.1:p.Lys31Thr, XP_047296478.1:p.Lys116Thr, XP_047296479.1:p.Lys116Thr, XP_047296480.1:p.Lys116Thr

                            14.

                            rs1457555475 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              20:13913897 (GRCh38)
                              20:13894543 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:13913896:G:T
                              Gene:
                              SEL1L2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000020.11:g.13913897G>T, NC_000020.10:g.13894543G>T, NW_025791811.1:g.122448G>T, XM_006723646.4:c.434C>A, XM_006723646.3:c.434C>A, XM_006723646.2:c.434C>A, XM_006723646.1:c.434C>A, XM_006723648.4:c.434C>A, XM_006723648.3:c.434C>A, XM_006723648.2:c.434C>A, XM_006723648.1:c.434C>A, XM_006723652.4:c.434C>A, XM_006723652.3:c.434C>A, XM_006723652.2:c.434C>A, XM_006723652.1:c.434C>A, XM_006723650.3:c.434C>A, XM_006723650.2:c.434C>A, XM_006723650.1:c.434C>A, XM_011529374.3:c.434C>A, XM_011529374.2:c.434C>A, XM_011529374.1:c.434C>A, XM_011529375.3:c.434C>A, XM_011529375.2:c.434C>A, XM_011529375.1:c.434C>A, XM_011529376.3:c.434C>A, XM_011529376.2:c.434C>A, XM_011529376.1:c.434C>A, XM_006723651.3:c.434C>A, XM_006723651.2:c.434C>A, XM_006723651.1:c.434C>A, XM_011529379.3:c.17C>A, XM_011529379.2:c.17C>A, XM_011529379.1:c.17C>A, XM_011529378.3:c.98C>A, XM_011529378.2:c.98C>A, XM_011529378.1:c.98C>A, NR_073206.2:n.635C>A, NR_073206.1:n.640C>A, NR_073207.2:n.687C>A, NR_073207.1:n.687C>A, NM_025229.2:c.434C>A, NM_025229.1:c.434C>A, XM_024452003.2:c.98C>A, XM_024452003.1:c.98C>A, NM_001271539.2:c.434C>A, NM_001271539.1:c.434C>A, NM_001363752.2:c.98C>A, NM_001363752.1:c.98C>A, XR_937159.2:n.514C>A, XR_937159.1:n.521C>A, XR_937162.2:n.514C>A, XR_937162.1:n.521C>A, XR_937160.2:n.514C>A, XR_937160.1:n.521C>A, XR_937163.2:n.514C>A, XR_937163.1:n.521C>A, XM_047440521.1:c.98C>A, XM_047440520.1:c.179C>A, XM_047440522.1:c.434C>A, XM_047440523.1:c.434C>A, XM_047440524.1:c.434C>A, XP_006723709.1:p.Ala145Asp, XP_006723711.1:p.Ala145Asp, XP_006723715.1:p.Ala145Asp, XP_006723713.1:p.Ala145Asp, XP_011527676.1:p.Ala145Asp, XP_011527677.1:p.Ala145Asp, XP_011527678.1:p.Ala145Asp, XP_006723714.1:p.Ala145Asp, XP_011527681.1:p.Ala6Asp, XP_011527680.1:p.Ala33Asp, NP_079505.1:p.Ala145Asp, XP_024307771.1:p.Ala33Asp, NP_001258468.1:p.Ala145Asp, NP_001350681.1:p.Ala33Asp, XP_047296477.1:p.Ala33Asp, XP_047296476.1:p.Ala60Asp, XP_047296478.1:p.Ala145Asp, XP_047296479.1:p.Ala145Asp, XP_047296480.1:p.Ala145Asp

                              15.

                              rs1456072119 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:13865207 (GRCh38)
                                20:13845853 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:13865206:A:G
                                Gene:
                                SEL1L2 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000111/1 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.13865207A>G, NC_000020.10:g.13845853A>G, NW_025791811.1:g.73758A>G, XM_006723654.5:c.597T>C, XM_006723654.4:c.597T>C, XM_006723654.3:c.597T>C, XM_006723654.2:c.597T>C, XM_006723654.1:c.597T>C, XM_006723646.4:c.1605T>C, XM_006723646.3:c.1605T>C, XM_006723646.2:c.1605T>C, XM_006723646.1:c.1605T>C, XM_006723648.4:c.1548T>C, XM_006723648.3:c.1548T>C, XM_006723648.2:c.1548T>C, XM_006723648.1:c.1548T>C, XM_006723652.4:c.1439T>C, XM_006723652.3:c.1439T>C, XM_006723652.2:c.1439T>C, XM_006723652.1:c.1439T>C, XM_006723650.3:c.1605T>C, XM_006723650.2:c.1605T>C, XM_006723650.1:c.1605T>C, XM_011529374.3:c.1545T>C, XM_011529374.2:c.1545T>C, XM_011529374.1:c.1545T>C, XM_011529375.3:c.1494T>C, XM_011529375.2:c.1494T>C, XM_011529375.1:c.1494T>C, XM_011529376.3:c.1437T>C, XM_011529376.2:c.1437T>C, XM_011529376.1:c.1437T>C, XM_006723651.3:c.1605T>C, XM_006723651.2:c.1605T>C, XM_006723651.1:c.1605T>C, XM_011529379.3:c.1188T>C, XM_011529379.2:c.1188T>C, XM_011529379.1:c.1188T>C, XM_011529378.3:c.1269T>C, XM_011529378.2:c.1269T>C, XM_011529378.1:c.1269T>C, NR_073206.2:n.1806T>C, NR_073206.1:n.1811T>C, NR_073207.2:n.1692T>C, NR_073207.1:n.1692T>C, NM_025229.2:c.1605T>C, NM_025229.1:c.1605T>C, XM_024452003.2:c.1269T>C, XM_024452003.1:c.1269T>C, NM_001271539.2:c.1439T>C, NM_001271539.1:c.1439T>C, NM_001363752.2:c.1046T>C, NM_001363752.1:c.1046T>C, XR_937159.2:n.1685T>C, XR_937159.1:n.1692T>C, XR_937162.2:n.1519T>C, XR_937162.1:n.1526T>C, XR_937160.2:n.1641T>C, XR_937160.1:n.1648T>C, XM_047440521.1:c.1269T>C, XM_047440520.1:c.1350T>C, XM_047440523.1:c.1439T>C, XM_047440524.1:c.*33T>C, XM_047440522.1:c.1382T>C, XP_006723715.1:p.Ile480Thr, NP_001258468.1:p.Ile480Thr, NP_001350681.1:p.Ile349Thr, XP_047296479.1:p.Ile480Thr, XP_047296478.1:p.Ile461Thr

                                16.

                                rs1455569538 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  20:13866710 (GRCh38)
                                  20:13847356 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:13866709:C:A
                                  Gene:
                                  SEL1L2 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.0004/2 (ALFA)
                                  A=0.0004/2 (Estonian)
                                  HGVS:
                                  NC_000020.11:g.13866710C>A, NC_000020.10:g.13847356C>A, NW_025791811.1:g.75261C>A, XM_006723654.5:c.388G>T, XM_006723654.4:c.388G>T, XM_006723654.3:c.388G>T, XM_006723654.2:c.388G>T, XM_006723654.1:c.388G>T, XM_006723646.4:c.1396G>T, XM_006723646.3:c.1396G>T, XM_006723646.2:c.1396G>T, XM_006723646.1:c.1396G>T, XM_006723648.4:c.1339G>T, XM_006723648.3:c.1339G>T, XM_006723648.2:c.1339G>T, XM_006723648.1:c.1339G>T, XM_006723652.4:c.1396G>T, XM_006723652.3:c.1396G>T, XM_006723652.2:c.1396G>T, XM_006723652.1:c.1396G>T, XM_006723650.3:c.1396G>T, XM_006723650.2:c.1396G>T, XM_006723650.1:c.1396G>T, XM_011529374.3:c.1336G>T, XM_011529374.2:c.1336G>T, XM_011529374.1:c.1336G>T, XM_011529375.3:c.1285G>T, XM_011529375.2:c.1285G>T, XM_011529375.1:c.1285G>T, XM_011529376.3:c.1228G>T, XM_011529376.2:c.1228G>T, XM_011529376.1:c.1228G>T, XM_006723651.3:c.1396G>T, XM_006723651.2:c.1396G>T, XM_006723651.1:c.1396G>T, XM_011529379.3:c.979G>T, XM_011529379.2:c.979G>T, XM_011529379.1:c.979G>T, XM_011529378.3:c.1060G>T, XM_011529378.2:c.1060G>T, XM_011529378.1:c.1060G>T, NR_073206.2:n.1597G>T, NR_073206.1:n.1602G>T, NR_073207.2:n.1649G>T, NR_073207.1:n.1649G>T, NM_025229.2:c.1396G>T, NM_025229.1:c.1396G>T, XM_024452003.2:c.1060G>T, XM_024452003.1:c.1060G>T, NM_001271539.2:c.1396G>T, NM_001271539.1:c.1396G>T, NM_001363752.2:c.1003G>T, NM_001363752.1:c.1003G>T, XR_937159.2:n.1476G>T, XR_937159.1:n.1483G>T, XR_937162.2:n.1476G>T, XR_937162.1:n.1483G>T, XR_937160.2:n.1476G>T, XR_937160.1:n.1483G>T, XM_047440521.1:c.1060G>T, XM_047440520.1:c.1141G>T, XM_047440523.1:c.1396G>T, XM_047440522.1:c.1339G>T, XP_006723717.1:p.Ala130Ser, XP_006723709.1:p.Ala466Ser, XP_006723711.1:p.Ala447Ser, XP_006723715.1:p.Ala466Ser, XP_006723713.1:p.Ala466Ser, XP_011527676.1:p.Ala446Ser, XP_011527677.1:p.Ala429Ser, XP_011527678.1:p.Ala410Ser, XP_006723714.1:p.Ala466Ser, XP_011527681.1:p.Ala327Ser, XP_011527680.1:p.Ala354Ser, NP_079505.1:p.Ala466Ser, XP_024307771.1:p.Ala354Ser, NP_001258468.1:p.Ala466Ser, NP_001350681.1:p.Ala335Ser, XP_047296477.1:p.Ala354Ser, XP_047296476.1:p.Ala381Ser, XP_047296479.1:p.Ala466Ser, XP_047296478.1:p.Ala447Ser

                                  17.

                                  rs1452768808 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:13850315 (GRCh38)
                                    20:13830961 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:13850314:A:G
                                    Gene:
                                    SEL1L2 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.13850315A>G, NC_000020.10:g.13830961A>G, NW_025791811.1:g.58866A>G, XM_006723654.5:c.815T>C, XM_006723654.4:c.815T>C, XM_006723654.3:c.815T>C, XM_006723654.2:c.815T>C, XM_006723654.1:c.815T>C, XM_006723646.4:c.1823T>C, XM_006723646.3:c.1823T>C, XM_006723646.2:c.1823T>C, XM_006723646.1:c.1823T>C, XM_006723648.4:c.1766T>C, XM_006723648.3:c.1766T>C, XM_006723648.2:c.1766T>C, XM_006723648.1:c.1766T>C, XM_006723652.4:c.1484T>C, XM_006723652.3:c.1484T>C, XM_006723652.2:c.1484T>C, XM_006723652.1:c.1484T>C, XM_006723650.3:c.1650T>C, XM_006723650.2:c.1650T>C, XM_006723650.1:c.1650T>C, XM_011529374.3:c.1763T>C, XM_011529374.2:c.1763T>C, XM_011529374.1:c.1763T>C, XM_011529375.3:c.1712T>C, XM_011529375.2:c.1712T>C, XM_011529375.1:c.1712T>C, XM_011529376.3:c.1655T>C, XM_011529376.2:c.1655T>C, XM_011529376.1:c.1655T>C, XM_006723651.3:c.1650T>C, XM_006723651.2:c.1650T>C, XM_006723651.1:c.1650T>C, XM_011529379.3:c.1406T>C, XM_011529379.2:c.1406T>C, XM_011529379.1:c.1406T>C, XM_011529378.3:c.1487T>C, XM_011529378.2:c.1487T>C, XM_011529378.1:c.1487T>C, NR_073206.2:n.2024T>C, NR_073206.1:n.2029T>C, NR_073207.2:n.1910T>C, NR_073207.1:n.1910T>C, NM_025229.2:c.1823T>C, NM_025229.1:c.1823T>C, XM_024452003.2:c.1487T>C, XM_024452003.1:c.1487T>C, NM_001271539.2:c.1484T>C, NM_001271539.1:c.1484T>C, NM_001363752.2:c.1091T>C, NM_001363752.1:c.1091T>C, XM_047440521.1:c.1487T>C, XM_047440520.1:c.1568T>C, XM_047440522.1:c.1427T>C, XP_006723717.1:p.Ile272Thr, XP_006723709.1:p.Ile608Thr, XP_006723711.1:p.Ile589Thr, XP_006723715.1:p.Ile495Thr, XP_011527676.1:p.Ile588Thr, XP_011527677.1:p.Ile571Thr, XP_011527678.1:p.Ile552Thr, XP_011527681.1:p.Ile469Thr, XP_011527680.1:p.Ile496Thr, NP_079505.1:p.Ile608Thr, XP_024307771.1:p.Ile496Thr, NP_001258468.1:p.Ile495Thr, NP_001350681.1:p.Ile364Thr, XP_047296477.1:p.Ile496Thr, XP_047296476.1:p.Ile523Thr, XP_047296478.1:p.Ile476Thr

                                    18.

                                    rs1452202522 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      20:13888472 (GRCh38)
                                      20:13869118 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:13888471:T:C
                                      Gene:
                                      SEL1L2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000043/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.13888472T>C, NC_000020.10:g.13869118T>C, NW_025791811.1:g.97023T>C, XM_006723646.4:c.590A>G, XM_006723646.3:c.590A>G, XM_006723646.2:c.590A>G, XM_006723646.1:c.590A>G, XM_006723648.4:c.590A>G, XM_006723648.3:c.590A>G, XM_006723648.2:c.590A>G, XM_006723648.1:c.590A>G, XM_006723652.4:c.590A>G, XM_006723652.3:c.590A>G, XM_006723652.2:c.590A>G, XM_006723652.1:c.590A>G, XM_006723650.3:c.590A>G, XM_006723650.2:c.590A>G, XM_006723650.1:c.590A>G, XM_011529374.3:c.590A>G, XM_011529374.2:c.590A>G, XM_011529374.1:c.590A>G, XM_011529375.3:c.590A>G, XM_011529375.2:c.590A>G, XM_011529375.1:c.590A>G, XM_011529376.3:c.590A>G, XM_011529376.2:c.590A>G, XM_011529376.1:c.590A>G, XM_006723651.3:c.590A>G, XM_006723651.2:c.590A>G, XM_006723651.1:c.590A>G, XM_011529379.3:c.173A>G, XM_011529379.2:c.173A>G, XM_011529379.1:c.173A>G, XM_011529378.3:c.254A>G, XM_011529378.2:c.254A>G, XM_011529378.1:c.254A>G, NR_073206.2:n.791A>G, NR_073206.1:n.796A>G, NR_073207.2:n.843A>G, NR_073207.1:n.843A>G, NM_025229.2:c.590A>G, NM_025229.1:c.590A>G, XM_024452003.2:c.254A>G, XM_024452003.1:c.254A>G, NM_001271539.2:c.590A>G, NM_001271539.1:c.590A>G, NM_001363752.2:c.254A>G, NM_001363752.1:c.254A>G, XR_937159.2:n.670A>G, XR_937159.1:n.677A>G, XR_937162.2:n.670A>G, XR_937162.1:n.677A>G, XR_937160.2:n.670A>G, XR_937160.1:n.677A>G, XR_937163.2:n.670A>G, XR_937163.1:n.677A>G, XM_047440521.1:c.254A>G, XM_047440520.1:c.335A>G, XM_047440522.1:c.590A>G, XM_047440523.1:c.590A>G, XM_047440524.1:c.590A>G, XP_006723709.1:p.Tyr197Cys, XP_006723711.1:p.Tyr197Cys, XP_006723715.1:p.Tyr197Cys, XP_006723713.1:p.Tyr197Cys, XP_011527676.1:p.Tyr197Cys, XP_011527677.1:p.Tyr197Cys, XP_011527678.1:p.Tyr197Cys, XP_006723714.1:p.Tyr197Cys, XP_011527681.1:p.Tyr58Cys, XP_011527680.1:p.Tyr85Cys, NP_079505.1:p.Tyr197Cys, XP_024307771.1:p.Tyr85Cys, NP_001258468.1:p.Tyr197Cys, NP_001350681.1:p.Tyr85Cys, XP_047296477.1:p.Tyr85Cys, XP_047296476.1:p.Tyr112Cys, XP_047296478.1:p.Tyr197Cys, XP_047296479.1:p.Tyr197Cys, XP_047296480.1:p.Tyr197Cys

                                      19.

                                      rs1448692016 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        20:13886415 (GRCh38)
                                        20:13867061 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:13886414:C:T
                                        Gene:
                                        SEL1L2 (Varview)
                                        Functional Consequence:
                                        missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000224/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000020.11:g.13886415C>T, NC_000020.10:g.13867061C>T, NW_025791811.1:g.94966C>T, XM_006723654.5:c.-108G>A, XM_006723654.4:c.-108G>A, XM_006723654.3:c.-108G>A, XM_006723654.2:c.-108G>A, XM_006723646.4:c.773G>A, XM_006723646.3:c.773G>A, XM_006723646.2:c.773G>A, XM_006723646.1:c.773G>A, XM_006723648.4:c.773G>A, XM_006723648.3:c.773G>A, XM_006723648.2:c.773G>A, XM_006723648.1:c.773G>A, XM_006723652.4:c.773G>A, XM_006723652.3:c.773G>A, XM_006723652.2:c.773G>A, XM_006723652.1:c.773G>A, XM_006723650.3:c.773G>A, XM_006723650.2:c.773G>A, XM_006723650.1:c.773G>A, XM_011529374.3:c.713G>A, XM_011529374.2:c.713G>A, XM_011529374.1:c.713G>A, XM_011529375.3:c.773G>A, XM_011529375.2:c.773G>A, XM_011529375.1:c.773G>A, XM_011529376.3:c.773G>A, XM_011529376.2:c.773G>A, XM_011529376.1:c.773G>A, XM_006723651.3:c.773G>A, XM_006723651.2:c.773G>A, XM_006723651.1:c.773G>A, XM_011529379.3:c.356G>A, XM_011529379.2:c.356G>A, XM_011529379.1:c.356G>A, XM_011529378.3:c.437G>A, XM_011529378.2:c.437G>A, XM_011529378.1:c.437G>A, NR_073206.2:n.974G>A, NR_073206.1:n.979G>A, NR_073207.2:n.1026G>A, NR_073207.1:n.1026G>A, NM_025229.2:c.773G>A, NM_025229.1:c.773G>A, XM_024452003.2:c.437G>A, XM_024452003.1:c.437G>A, NM_001271539.2:c.773G>A, NM_001271539.1:c.773G>A, NM_001363752.2:c.437G>A, NM_001363752.1:c.437G>A, XR_937159.2:n.853G>A, XR_937159.1:n.860G>A, XR_937162.2:n.853G>A, XR_937162.1:n.860G>A, XR_937160.2:n.853G>A, XR_937160.1:n.860G>A, XR_937163.2:n.853G>A, XR_937163.1:n.860G>A, XM_047440520.1:c.518G>A, XM_047440522.1:c.773G>A, XM_047440523.1:c.773G>A, XM_047440524.1:c.773G>A, XM_047440521.1:c.437G>A, XP_006723709.1:p.Gly258Asp, XP_006723711.1:p.Gly258Asp, XP_006723715.1:p.Gly258Asp, XP_006723713.1:p.Gly258Asp, XP_011527676.1:p.Gly238Asp, XP_011527677.1:p.Gly258Asp, XP_011527678.1:p.Gly258Asp, XP_006723714.1:p.Gly258Asp, XP_011527681.1:p.Gly119Asp, XP_011527680.1:p.Gly146Asp, NP_079505.1:p.Gly258Asp, XP_024307771.1:p.Gly146Asp, NP_001258468.1:p.Gly258Asp, NP_001350681.1:p.Gly146Asp, XP_047296476.1:p.Gly173Asp, XP_047296478.1:p.Gly258Asp, XP_047296479.1:p.Gly258Asp, XP_047296480.1:p.Gly258Asp, XP_047296477.1:p.Gly146Asp

                                        20.

                                        rs1446597670 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:13876092 (GRCh38)
                                          20:13856738 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:13876091:G:A
                                          Gene:
                                          SEL1L2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000051/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000020.11:g.13876092G>A, NC_000020.10:g.13856738G>A, NW_025791811.1:g.84643G>A, XM_006723654.5:c.42C>T, XM_006723654.4:c.42C>T, XM_006723654.3:c.42C>T, XM_006723654.2:c.42C>T, XM_006723654.1:c.42C>T, XM_006723646.4:c.1050C>T, XM_006723646.3:c.1050C>T, XM_006723646.2:c.1050C>T, XM_006723646.1:c.1050C>T, XM_006723648.4:c.993C>T, XM_006723648.3:c.993C>T, XM_006723648.2:c.993C>T, XM_006723648.1:c.993C>T, XM_006723652.4:c.1050C>T, XM_006723652.3:c.1050C>T, XM_006723652.2:c.1050C>T, XM_006723652.1:c.1050C>T, XM_006723650.3:c.1050C>T, XM_006723650.2:c.1050C>T, XM_006723650.1:c.1050C>T, XM_011529374.3:c.990C>T, XM_011529374.2:c.990C>T, XM_011529374.1:c.990C>T, XM_011529375.3:c.939C>T, XM_011529375.2:c.939C>T, XM_011529375.1:c.939C>T, XM_011529376.3:c.882C>T, XM_011529376.2:c.882C>T, XM_011529376.1:c.882C>T, XM_006723651.3:c.1050C>T, XM_006723651.2:c.1050C>T, XM_006723651.1:c.1050C>T, XM_011529379.3:c.633C>T, XM_011529379.2:c.633C>T, XM_011529379.1:c.633C>T, XM_011529378.3:c.714C>T, XM_011529378.2:c.714C>T, XM_011529378.1:c.714C>T, NR_073206.2:n.1251C>T, NR_073206.1:n.1256C>T, NR_073207.2:n.1303C>T, NR_073207.1:n.1303C>T, NM_025229.2:c.1050C>T, NM_025229.1:c.1050C>T, XM_024452003.2:c.714C>T, XM_024452003.1:c.714C>T, NM_001271539.2:c.1050C>T, NM_001271539.1:c.1050C>T, NM_001363752.2:c.657C>T, NM_001363752.1:c.657C>T, XR_937159.2:n.1130C>T, XR_937159.1:n.1137C>T, XR_937162.2:n.1130C>T, XR_937162.1:n.1137C>T, XR_937160.2:n.1130C>T, XR_937160.1:n.1137C>T, XR_937163.2:n.1130C>T, XR_937163.1:n.1137C>T, XM_047440520.1:c.795C>T, XM_047440522.1:c.993C>T, XM_047440523.1:c.1050C>T, XM_047440524.1:c.1050C>T, XM_047440521.1:c.714C>T

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