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Items: 1 to 20 of 613

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.

    rs1486158483 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      20:13859390 (GRCh38)
      20:13840036 (GRCh37)
      Canonical SPDI:
      NC_000020.11:13859389:C:T
      Gene:
      SEL1L2 (Varview)
      Functional Consequence:
      missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.13859390C>T, NC_000020.10:g.13840036C>T, NW_025791811.1:g.67941C>T, XM_006723654.5:c.682G>A, XM_006723654.4:c.682G>A, XM_006723654.3:c.682G>A, XM_006723654.2:c.682G>A, XM_006723654.1:c.682G>A, XM_006723646.4:c.1690G>A, XM_006723646.3:c.1690G>A, XM_006723646.2:c.1690G>A, XM_006723646.1:c.1690G>A, XM_006723648.4:c.1633G>A, XM_006723648.3:c.1633G>A, XM_006723648.2:c.1633G>A, XM_006723648.1:c.1633G>A, XM_011529374.3:c.1630G>A, XM_011529374.2:c.1630G>A, XM_011529374.1:c.1630G>A, XM_011529375.3:c.1579G>A, XM_011529375.2:c.1579G>A, XM_011529375.1:c.1579G>A, XM_011529376.3:c.1522G>A, XM_011529376.2:c.1522G>A, XM_011529376.1:c.1522G>A, XM_011529379.3:c.1273G>A, XM_011529379.2:c.1273G>A, XM_011529379.1:c.1273G>A, XM_011529378.3:c.1354G>A, XM_011529378.2:c.1354G>A, XM_011529378.1:c.1354G>A, NR_073206.2:n.1891G>A, NR_073206.1:n.1896G>A, NR_073207.2:n.1777G>A, NR_073207.1:n.1777G>A, NM_025229.2:c.1690G>A, NM_025229.1:c.1690G>A, XM_024452003.2:c.1354G>A, XM_024452003.1:c.1354G>A, XR_937159.2:n.1926G>A, XR_937159.1:n.1933G>A, XR_937162.2:n.1760G>A, XR_937162.1:n.1767G>A, XM_047440521.1:c.1354G>A, XM_047440520.1:c.1435G>A, XM_047440523.1:c.*24G>A, XP_006723717.1:p.Gly228Ser, XP_006723709.1:p.Gly564Ser, XP_006723711.1:p.Gly545Ser, XP_011527676.1:p.Gly544Ser, XP_011527677.1:p.Gly527Ser, XP_011527678.1:p.Gly508Ser, XP_011527681.1:p.Gly425Ser, XP_011527680.1:p.Gly452Ser, NP_079505.1:p.Gly564Ser, XP_024307771.1:p.Gly452Ser, XP_047296477.1:p.Gly452Ser, XP_047296476.1:p.Gly479Ser

      3.

      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

        4.

        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

          5.

          rs1479796256 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GTGTTCA>- [Show Flanks]
            Chromosome:
            20:13859280 (GRCh38)
            20:13839926 (GRCh37)
            Canonical SPDI:
            NC_000020.11:13859279:GTGTTCA:
            Gene:
            SEL1L2 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,stop_gained
            Validated:
            by frequency,by alfa
            MAF:
            -=0.000071/1 (ALFA)
            -=0.000068/18 (TOPMED)
            HGVS:
            NC_000020.11:g.13859280_13859286del, NC_000020.10:g.13839926_13839932del, NW_025791811.1:g.67831_67837del, XM_006723654.5:c.786_792del, XM_006723654.4:c.786_792del, XM_006723654.3:c.786_792del, XM_006723654.2:c.786_792del, XM_006723654.1:c.786_792del, XM_006723646.4:c.1794_1800del, XM_006723646.3:c.1794_1800del, XM_006723646.2:c.1794_1800del, XM_006723646.1:c.1794_1800del, XM_006723648.4:c.1737_1743del, XM_006723648.3:c.1737_1743del, XM_006723648.2:c.1737_1743del, XM_006723648.1:c.1737_1743del, XM_011529374.3:c.1734_1740del, XM_011529374.2:c.1734_1740del, XM_011529374.1:c.1734_1740del, XM_011529375.3:c.1683_1689del, XM_011529375.2:c.1683_1689del, XM_011529375.1:c.1683_1689del, XM_011529376.3:c.1626_1632del, XM_011529376.2:c.1626_1632del, XM_011529376.1:c.1626_1632del, XM_011529379.3:c.1377_1383del, XM_011529379.2:c.1377_1383del, XM_011529379.1:c.1377_1383del, XM_011529378.3:c.1458_1464del, XM_011529378.2:c.1458_1464del, XM_011529378.1:c.1458_1464del, NR_073206.2:n.1995_2001del, NR_073206.1:n.2000_2006del, NR_073207.2:n.1881_1887del, NR_073207.1:n.1881_1887del, NM_025229.2:c.1794_1800del, NM_025229.1:c.1794_1800del, XM_024452003.2:c.1458_1464del, XM_024452003.1:c.1458_1464del, XM_047440521.1:c.1458_1464del, XM_047440520.1:c.1539_1545del, XP_006723717.1:p.Met261_Tyr262insTer, XP_006723709.1:p.Met597_Tyr598insTer, XP_006723711.1:p.Met578_Tyr579insTer, XP_011527676.1:p.Met577_Tyr578insTer, XP_011527677.1:p.Met560_Tyr561insTer, XP_011527678.1:p.Met541_Tyr542insTer, XP_011527681.1:p.Met458_Tyr459insTer, XP_011527680.1:p.Met485_Tyr486insTer, NP_079505.1:p.Met597_Tyr598insTer, XP_024307771.1:p.Met485_Tyr486insTer, XP_047296477.1:p.Met485_Tyr486insTer, XP_047296476.1:p.Met512_Tyr513insTer

            6.

            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

              7.

              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

                8.

                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

                  9.

                  rs1474298162 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,G [Show Flanks]
                    Chromosome:
                    20:13859432 (GRCh38)
                    20:13840078 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:13859431:T:A,NC_000020.11:13859431:T:G
                    Gene:
                    SEL1L2 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    G=0.000071/1 (TOMMO)
                    HGVS:
                    NC_000020.11:g.13859432T>A, NC_000020.11:g.13859432T>G, NC_000020.10:g.13840078T>A, NC_000020.10:g.13840078T>G, NW_025791811.1:g.67983T>A, NW_025791811.1:g.67983T>G, XM_006723654.5:c.640A>T, XM_006723654.5:c.640A>C, XM_006723654.4:c.640A>T, XM_006723654.4:c.640A>C, XM_006723654.3:c.640A>T, XM_006723654.3:c.640A>C, XM_006723654.2:c.640A>T, XM_006723654.2:c.640A>C, XM_006723654.1:c.640A>T, XM_006723654.1:c.640A>C, XM_006723646.4:c.1648A>T, XM_006723646.4:c.1648A>C, XM_006723646.3:c.1648A>T, XM_006723646.3:c.1648A>C, XM_006723646.2:c.1648A>T, XM_006723646.2:c.1648A>C, XM_006723646.1:c.1648A>T, XM_006723646.1:c.1648A>C, XM_006723648.4:c.1591A>T, XM_006723648.4:c.1591A>C, XM_006723648.3:c.1591A>T, XM_006723648.3:c.1591A>C, XM_006723648.2:c.1591A>T, XM_006723648.2:c.1591A>C, XM_006723648.1:c.1591A>T, XM_006723648.1:c.1591A>C, XM_011529374.3:c.1588A>T, XM_011529374.3:c.1588A>C, XM_011529374.2:c.1588A>T, XM_011529374.2:c.1588A>C, XM_011529374.1:c.1588A>T, XM_011529374.1:c.1588A>C, XM_011529375.3:c.1537A>T, XM_011529375.3:c.1537A>C, XM_011529375.2:c.1537A>T, XM_011529375.2:c.1537A>C, XM_011529375.1:c.1537A>T, XM_011529375.1:c.1537A>C, XM_011529376.3:c.1480A>T, XM_011529376.3:c.1480A>C, XM_011529376.2:c.1480A>T, XM_011529376.2:c.1480A>C, XM_011529376.1:c.1480A>T, XM_011529376.1:c.1480A>C, XM_011529379.3:c.1231A>T, XM_011529379.3:c.1231A>C, XM_011529379.2:c.1231A>T, XM_011529379.2:c.1231A>C, XM_011529379.1:c.1231A>T, XM_011529379.1:c.1231A>C, XM_011529378.3:c.1312A>T, XM_011529378.3:c.1312A>C, XM_011529378.2:c.1312A>T, XM_011529378.2:c.1312A>C, XM_011529378.1:c.1312A>T, XM_011529378.1:c.1312A>C, NR_073206.2:n.1849A>T, NR_073206.2:n.1849A>C, NR_073206.1:n.1854A>T, NR_073206.1:n.1854A>C, NR_073207.2:n.1735A>T, NR_073207.2:n.1735A>C, NR_073207.1:n.1735A>T, NR_073207.1:n.1735A>C, NM_025229.2:c.1648A>T, NM_025229.2:c.1648A>C, NM_025229.1:c.1648A>T, NM_025229.1:c.1648A>C, XM_024452003.2:c.1312A>T, XM_024452003.2:c.1312A>C, XM_024452003.1:c.1312A>T, XM_024452003.1:c.1312A>C, XR_937159.2:n.1884A>T, XR_937159.2:n.1884A>C, XR_937159.1:n.1891A>T, XR_937159.1:n.1891A>C, XR_937162.2:n.1718A>T, XR_937162.2:n.1718A>C, XR_937162.1:n.1725A>T, XR_937162.1:n.1725A>C, XR_937160.2:n.1684A>T, XR_937160.2:n.1684A>C, XR_937160.1:n.1691A>T, XR_937160.1:n.1691A>C, XM_047440521.1:c.1312A>T, XM_047440521.1:c.1312A>C, XM_047440520.1:c.1393A>T, XM_047440520.1:c.1393A>C, XM_047440523.1:c.1482A>T, XM_047440523.1:c.1482A>C, XP_006723717.1:p.Asn214Tyr, XP_006723717.1:p.Asn214His, XP_006723709.1:p.Asn550Tyr, XP_006723709.1:p.Asn550His, XP_006723711.1:p.Asn531Tyr, XP_006723711.1:p.Asn531His, XP_011527676.1:p.Asn530Tyr, XP_011527676.1:p.Asn530His, XP_011527677.1:p.Asn513Tyr, XP_011527677.1:p.Asn513His, XP_011527678.1:p.Asn494Tyr, XP_011527678.1:p.Asn494His, XP_011527681.1:p.Asn411Tyr, XP_011527681.1:p.Asn411His, XP_011527680.1:p.Asn438Tyr, XP_011527680.1:p.Asn438His, NP_079505.1:p.Asn550Tyr, NP_079505.1:p.Asn550His, XP_024307771.1:p.Asn438Tyr, XP_024307771.1:p.Asn438His, XP_047296477.1:p.Asn438Tyr, XP_047296477.1:p.Asn438His, XP_047296476.1:p.Asn465Tyr, XP_047296476.1:p.Asn465His

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            rs1465747879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              20:13859324 (GRCh38)
                              20:13839970 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:13859323:G:T
                              Gene:
                              SEL1L2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_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.13859324G>T, NC_000020.10:g.13839970G>T, NW_025791811.1:g.67875G>T, XM_006723654.5:c.748C>A, XM_006723654.4:c.748C>A, XM_006723654.3:c.748C>A, XM_006723654.2:c.748C>A, XM_006723654.1:c.748C>A, XM_006723646.4:c.1756C>A, XM_006723646.3:c.1756C>A, XM_006723646.2:c.1756C>A, XM_006723646.1:c.1756C>A, XM_006723648.4:c.1699C>A, XM_006723648.3:c.1699C>A, XM_006723648.2:c.1699C>A, XM_006723648.1:c.1699C>A, XM_011529374.3:c.1696C>A, XM_011529374.2:c.1696C>A, XM_011529374.1:c.1696C>A, XM_011529375.3:c.1645C>A, XM_011529375.2:c.1645C>A, XM_011529375.1:c.1645C>A, XM_011529376.3:c.1588C>A, XM_011529376.2:c.1588C>A, XM_011529376.1:c.1588C>A, XM_011529379.3:c.1339C>A, XM_011529379.2:c.1339C>A, XM_011529379.1:c.1339C>A, XM_011529378.3:c.1420C>A, XM_011529378.2:c.1420C>A, XM_011529378.1:c.1420C>A, NR_073206.2:n.1957C>A, NR_073206.1:n.1962C>A, NR_073207.2:n.1843C>A, NR_073207.1:n.1843C>A, NM_025229.2:c.1756C>A, NM_025229.1:c.1756C>A, XM_024452003.2:c.1420C>A, XM_024452003.1:c.1420C>A, XM_047440521.1:c.1420C>A, XM_047440523.1:c.*90C>A, XM_047440520.1:c.1501C>A, XP_006723717.1:p.His250Asn, XP_006723709.1:p.His586Asn, XP_006723711.1:p.His567Asn, XP_011527676.1:p.His566Asn, XP_011527677.1:p.His549Asn, XP_011527678.1:p.His530Asn, XP_011527681.1:p.His447Asn, XP_011527680.1:p.His474Asn, NP_079505.1:p.His586Asn, XP_024307771.1:p.His474Asn, XP_047296477.1:p.His474Asn, XP_047296476.1:p.His501Asn

                              15.

                              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

                                16.

                                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

                                  17.

                                  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

                                    18.

                                    rs1459185151 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      20:13859429 (GRCh38)
                                      20:13840075 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:13859428: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./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000020.11:g.13859429C>A, NC_000020.10:g.13840075C>A, NW_025791811.1:g.67980C>A, XM_006723654.5:c.643G>T, XM_006723654.4:c.643G>T, XM_006723654.3:c.643G>T, XM_006723654.2:c.643G>T, XM_006723654.1:c.643G>T, XM_006723646.4:c.1651G>T, XM_006723646.3:c.1651G>T, XM_006723646.2:c.1651G>T, XM_006723646.1:c.1651G>T, XM_006723648.4:c.1594G>T, XM_006723648.3:c.1594G>T, XM_006723648.2:c.1594G>T, XM_006723648.1:c.1594G>T, XM_011529374.3:c.1591G>T, XM_011529374.2:c.1591G>T, XM_011529374.1:c.1591G>T, XM_011529375.3:c.1540G>T, XM_011529375.2:c.1540G>T, XM_011529375.1:c.1540G>T, XM_011529376.3:c.1483G>T, XM_011529376.2:c.1483G>T, XM_011529376.1:c.1483G>T, XM_011529379.3:c.1234G>T, XM_011529379.2:c.1234G>T, XM_011529379.1:c.1234G>T, XM_011529378.3:c.1315G>T, XM_011529378.2:c.1315G>T, XM_011529378.1:c.1315G>T, NR_073206.2:n.1852G>T, NR_073206.1:n.1857G>T, NR_073207.2:n.1738G>T, NR_073207.1:n.1738G>T, NM_025229.2:c.1651G>T, NM_025229.1:c.1651G>T, XM_024452003.2:c.1315G>T, XM_024452003.1:c.1315G>T, XR_937159.2:n.1887G>T, XR_937159.1:n.1894G>T, XR_937162.2:n.1721G>T, XR_937162.1:n.1728G>T, XR_937160.2:n.1687G>T, XR_937160.1:n.1694G>T, XM_047440521.1:c.1315G>T, XM_047440523.1:c.1485G>T, XM_047440520.1:c.1396G>T, XP_006723717.1:p.Ala215Ser, XP_006723709.1:p.Ala551Ser, XP_006723711.1:p.Ala532Ser, XP_011527676.1:p.Ala531Ser, XP_011527677.1:p.Ala514Ser, XP_011527678.1:p.Ala495Ser, XP_011527681.1:p.Ala412Ser, XP_011527680.1:p.Ala439Ser, NP_079505.1:p.Ala551Ser, XP_024307771.1:p.Ala439Ser, XP_047296477.1:p.Ala439Ser, XP_047296479.1:p.Met495Ile, XP_047296476.1:p.Ala466Ser

                                      19.

                                      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

                                        20.

                                        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

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