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Items: 1 to 20 of 626

1.

rs1489199967 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CT [Show Flanks]
    Chromosome:
    1:109751334 (GRCh38)
    1:110293957 (GRCh37)
    Canonical SPDI:
    NC_000001.11:109751334::CT
    Gene:
    EPS8L3 (Varview)
    Functional Consequence:
    frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    CT=0./0 (ALFA)
    CT=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.109751334_109751335insCT, NC_000001.10:g.110293956_110293957insCT, NG_082147.1:g.1022_1023insCT, NM_133181.4:c.1580_1581insAG, NM_133181.3:c.1580_1581insAG, XM_011542135.4:c.1415_1416insAG, XM_011542135.3:c.1415_1416insAG, XM_011542135.2:c.1415_1416insAG, XM_011542135.1:c.1415_1416insAG, XM_011542134.4:c.1505_1506insAG, XM_011542134.3:c.1505_1506insAG, XM_011542134.2:c.1505_1506insAG, XM_011542134.1:c.1505_1506insAG, NM_024526.4:c.1490_1491insAG, NM_024526.3:c.1490_1491insAG, XM_011542132.3:c.1607_1608insAG, XM_011542132.2:c.1607_1608insAG, XM_011542132.1:c.1607_1608insAG, XM_011542133.3:c.1604_1605insAG, XM_011542133.2:c.1604_1605insAG, XM_011542133.1:c.1604_1605insAG, NM_139053.3:c.1583_1584insAG, NM_139053.2:c.1583_1584insAG, XM_017002328.3:c.1517_1518insAG, XM_017002328.2:c.1517_1518insAG, XM_017002328.1:c.1517_1518insAG, XM_017002329.3:c.1493_1494insAG, XM_017002329.2:c.1493_1494insAG, XM_017002329.1:c.1493_1494insAG, NM_001319952.2:c.1391_1392insAG, NM_001319952.1:c.1391_1392insAG, XM_047430369.1:c.1505_1506insAG, XM_047430384.1:c.1505_1506insAG, XM_047430382.1:c.1478_1479insAG, XM_047430379.1:c.1481_1482insAG, XM_047430380.1:c.1478_1479insAG, XR_007063682.1:n.1803_1804insAG, NP_573444.2:p.Ser528fs, XP_011540437.1:p.Ser473fs, XP_011540436.1:p.Ser503fs, NP_078802.2:p.Ser498fs, XP_011540434.1:p.Ser537fs, XP_011540435.1:p.Ser536fs, NP_620641.1:p.Ser529fs, XP_016857817.1:p.Ser507fs, XP_016857818.1:p.Ser499fs, NP_001306881.1:p.Ser465fs, XP_047286325.1:p.Ser503fs, XP_047286340.1:p.Ser503fs, XP_047286338.1:p.Ser494fs, XP_047286335.1:p.Ser495fs, XP_047286336.1:p.Ser494fs

    2.

    rs1487569430 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      1:109753187 (GRCh38)
      1:110295809 (GRCh37)
      Canonical SPDI:
      NC_000001.11:109753186:G:
      Gene:
      EPS8L3 (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.109753187del, NC_000001.10:g.110295809del, NM_133181.4:c.1130del, NM_133181.3:c.1130del, XM_011542135.4:c.1055del, XM_011542135.3:c.1055del, XM_011542135.2:c.1055del, XM_011542135.1:c.1055del, XM_011542134.4:c.1055del, XM_011542134.3:c.1055del, XM_011542134.2:c.1055del, XM_011542134.1:c.1055del, NM_024526.4:c.1130del, NM_024526.3:c.1130del, XM_011542132.3:c.1157del, XM_011542132.2:c.1157del, XM_011542132.1:c.1157del, XM_011542133.3:c.1154del, XM_011542133.2:c.1154del, XM_011542133.1:c.1154del, NM_139053.3:c.1133del, NM_139053.2:c.1133del, XM_017002328.3:c.1157del, XM_017002328.2:c.1157del, XM_017002328.1:c.1157del, XM_017002329.3:c.1133del, XM_017002329.2:c.1133del, XM_017002329.1:c.1133del, XM_017002327.3:c.1157del, XM_017002327.2:c.1157del, XM_017002327.1:c.1157del, XR_001737407.3:n.1283del, XR_001737407.2:n.1306del, XR_001737407.1:n.1280del, NM_001319952.2:c.1031del, NM_001319952.1:c.1031del, XM_047430369.1:c.1055del, XM_047430384.1:c.1055del, XM_047430382.1:c.1028del, XM_047430379.1:c.1031del, XM_047430380.1:c.1028del, XR_007063682.1:n.1283del, NP_573444.2:p.Thr377fs, XP_011540437.1:p.Thr352fs, XP_011540436.1:p.Thr352fs, NP_078802.2:p.Thr377fs, XP_011540434.1:p.Thr386fs, XP_011540435.1:p.Thr385fs, NP_620641.1:p.Thr378fs, XP_016857817.1:p.Thr386fs, XP_016857818.1:p.Thr378fs, XP_016857816.1:p.Thr386fs, NP_001306881.1:p.Thr344fs, XP_047286325.1:p.Thr352fs, XP_047286340.1:p.Thr352fs, XP_047286338.1:p.Thr343fs, XP_047286335.1:p.Thr344fs, XP_047286336.1:p.Thr343fs

      3.

      rs1485709544 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        1:109757521 (GRCh38)
        1:110300143 (GRCh37)
        Canonical SPDI:
        NC_000001.11:109757520:G:T
        Gene:
        EPS8L3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        HGVS:
        NC_000001.11:g.109757521G>T, NC_000001.10:g.110300143G>T, NM_133181.4:c.929C>A, NM_133181.3:c.929C>A, XM_011542135.4:c.854C>A, XM_011542135.3:c.854C>A, XM_011542135.2:c.854C>A, XM_011542135.1:c.854C>A, XM_011542134.4:c.854C>A, XM_011542134.3:c.854C>A, XM_011542134.2:c.854C>A, XM_011542134.1:c.854C>A, NM_024526.4:c.929C>A, NM_024526.3:c.929C>A, XM_011542132.3:c.956C>A, XM_011542132.2:c.956C>A, XM_011542132.1:c.956C>A, XM_011542133.3:c.953C>A, XM_011542133.2:c.953C>A, XM_011542133.1:c.953C>A, NM_139053.3:c.932C>A, NM_139053.2:c.932C>A, XM_017002328.3:c.956C>A, XM_017002328.2:c.956C>A, XM_017002328.1:c.956C>A, XM_017002329.3:c.932C>A, XM_017002329.2:c.932C>A, XM_017002329.1:c.932C>A, XM_017002327.3:c.956C>A, XM_017002327.2:c.956C>A, XM_017002327.1:c.956C>A, XR_001737407.3:n.1082C>A, XR_001737407.2:n.1105C>A, XR_001737407.1:n.1079C>A, NM_001319952.2:c.830C>A, NM_001319952.1:c.830C>A, XM_047430369.1:c.854C>A, XM_047430384.1:c.854C>A, XM_047430382.1:c.827C>A, XM_047430379.1:c.830C>A, XM_047430380.1:c.827C>A, XR_007063682.1:n.1082C>A, NP_573444.2:p.Ala310Asp, XP_011540437.1:p.Ala285Asp, XP_011540436.1:p.Ala285Asp, NP_078802.2:p.Ala310Asp, XP_011540434.1:p.Ala319Asp, XP_011540435.1:p.Ala318Asp, NP_620641.1:p.Ala311Asp, XP_016857817.1:p.Ala319Asp, XP_016857818.1:p.Ala311Asp, XP_016857816.1:p.Ala319Asp, NP_001306881.1:p.Ala277Asp, XP_047286325.1:p.Ala285Asp, XP_047286340.1:p.Ala285Asp, XP_047286338.1:p.Ala276Asp, XP_047286335.1:p.Ala277Asp, XP_047286336.1:p.Ala276Asp

        4.

        rs1485093386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:109751678 (GRCh38)
          1:110294300 (GRCh37)
          Canonical SPDI:
          NC_000001.11:109751677:C:T
          Gene:
          EPS8L3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.109751678C>T, NC_000001.10:g.110294300C>T, NG_082147.1:g.1366C>T, NM_133181.4:c.1539G>A, NM_133181.3:c.1539G>A, XM_011542135.4:c.1374G>A, XM_011542135.3:c.1374G>A, XM_011542135.2:c.1374G>A, XM_011542135.1:c.1374G>A, XM_011542134.4:c.1464G>A, XM_011542134.3:c.1464G>A, XM_011542134.2:c.1464G>A, XM_011542134.1:c.1464G>A, NM_024526.4:c.1449G>A, NM_024526.3:c.1449G>A, XM_011542132.3:c.1566G>A, XM_011542132.2:c.1566G>A, XM_011542132.1:c.1566G>A, XM_011542133.3:c.1563G>A, XM_011542133.2:c.1563G>A, XM_011542133.1:c.1563G>A, NM_139053.3:c.1542G>A, NM_139053.2:c.1542G>A, XM_017002328.3:c.1476G>A, XM_017002328.2:c.1476G>A, XM_017002328.1:c.1476G>A, XM_017002329.3:c.1452G>A, XM_017002329.2:c.1452G>A, XM_017002329.1:c.1452G>A, XM_017002327.3:c.1566G>A, XM_017002327.2:c.1566G>A, XM_017002327.1:c.1566G>A, NM_001319952.2:c.1350G>A, NM_001319952.1:c.1350G>A, XM_047430369.1:c.1464G>A, XM_047430384.1:c.1464G>A, XM_047430382.1:c.1437G>A, XM_047430379.1:c.1440G>A, XM_047430380.1:c.1437G>A, XR_007063682.1:n.1692G>A

          5.

          rs1483161788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:109757843 (GRCh38)
            1:110300465 (GRCh37)
            Canonical SPDI:
            NC_000001.11:109757842:T:C
            Gene:
            EPS8L3 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            NC_000001.11:g.109757843T>C, NC_000001.10:g.110300465T>C, NM_133181.4:c.853A>G, NM_133181.3:c.853A>G, XM_011542135.4:c.778A>G, XM_011542135.3:c.778A>G, XM_011542135.2:c.778A>G, XM_011542135.1:c.778A>G, XM_011542134.4:c.778A>G, XM_011542134.3:c.778A>G, XM_011542134.2:c.778A>G, XM_011542134.1:c.778A>G, NM_024526.4:c.853A>G, NM_024526.3:c.853A>G, XM_011542132.3:c.880A>G, XM_011542132.2:c.880A>G, XM_011542132.1:c.880A>G, XM_011542133.3:c.877A>G, XM_011542133.2:c.877A>G, XM_011542133.1:c.877A>G, NM_139053.3:c.856A>G, NM_139053.2:c.856A>G, XM_017002328.3:c.880A>G, XM_017002328.2:c.880A>G, XM_017002328.1:c.880A>G, XM_017002329.3:c.856A>G, XM_017002329.2:c.856A>G, XM_017002329.1:c.856A>G, XM_017002327.3:c.880A>G, XM_017002327.2:c.880A>G, XM_017002327.1:c.880A>G, XR_001737407.3:n.1006A>G, XR_001737407.2:n.1029A>G, XR_001737407.1:n.1003A>G, NM_001319952.2:c.754A>G, NM_001319952.1:c.754A>G, XM_047430369.1:c.778A>G, XM_047430384.1:c.778A>G, XM_047430382.1:c.751A>G, XM_047430379.1:c.754A>G, XM_047430380.1:c.751A>G, XR_007063682.1:n.1006A>G, NP_573444.2:p.Ile285Val, XP_011540437.1:p.Ile260Val, XP_011540436.1:p.Ile260Val, NP_078802.2:p.Ile285Val, XP_011540434.1:p.Ile294Val, XP_011540435.1:p.Ile293Val, NP_620641.1:p.Ile286Val, XP_016857817.1:p.Ile294Val, XP_016857818.1:p.Ile286Val, XP_016857816.1:p.Ile294Val, NP_001306881.1:p.Ile252Val, XP_047286325.1:p.Ile260Val, XP_047286340.1:p.Ile260Val, XP_047286338.1:p.Ile251Val, XP_047286335.1:p.Ile252Val, XP_047286336.1:p.Ile251Val

            6.

            rs1481022562 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:109757070 (GRCh38)
              1:110299692 (GRCh37)
              Canonical SPDI:
              NC_000001.11:109757069:G:T
              Gene:
              EPS8L3 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.109757070G>T, NC_000001.10:g.110299692G>T, NM_133181.4:c.1065C>A, NM_133181.3:c.1065C>A, XM_011542135.4:c.990C>A, XM_011542135.3:c.990C>A, XM_011542135.2:c.990C>A, XM_011542135.1:c.990C>A, XM_011542134.4:c.990C>A, XM_011542134.3:c.990C>A, XM_011542134.2:c.990C>A, XM_011542134.1:c.990C>A, NM_024526.4:c.1065C>A, NM_024526.3:c.1065C>A, XM_011542132.3:c.1092C>A, XM_011542132.2:c.1092C>A, XM_011542132.1:c.1092C>A, XM_011542133.3:c.1089C>A, XM_011542133.2:c.1089C>A, XM_011542133.1:c.1089C>A, NM_139053.3:c.1068C>A, NM_139053.2:c.1068C>A, XM_017002328.3:c.1092C>A, XM_017002328.2:c.1092C>A, XM_017002328.1:c.1092C>A, XM_017002329.3:c.1068C>A, XM_017002329.2:c.1068C>A, XM_017002329.1:c.1068C>A, XM_017002327.3:c.1092C>A, XM_017002327.2:c.1092C>A, XM_017002327.1:c.1092C>A, XR_001737407.3:n.1218C>A, XR_001737407.2:n.1241C>A, XR_001737407.1:n.1215C>A, NM_001319952.2:c.966C>A, NM_001319952.1:c.966C>A, XM_047430369.1:c.990C>A, XM_047430384.1:c.990C>A, XM_047430382.1:c.963C>A, XM_047430379.1:c.966C>A, XM_047430380.1:c.963C>A, XR_007063682.1:n.1218C>A, NP_573444.2:p.Ser355Arg, XP_011540437.1:p.Ser330Arg, XP_011540436.1:p.Ser330Arg, NP_078802.2:p.Ser355Arg, XP_011540434.1:p.Ser364Arg, XP_011540435.1:p.Ser363Arg, NP_620641.1:p.Ser356Arg, XP_016857817.1:p.Ser364Arg, XP_016857818.1:p.Ser356Arg, XP_016857816.1:p.Ser364Arg, NP_001306881.1:p.Ser322Arg, XP_047286325.1:p.Ser330Arg, XP_047286340.1:p.Ser330Arg, XP_047286338.1:p.Ser321Arg, XP_047286335.1:p.Ser322Arg, XP_047286336.1:p.Ser321Arg

              7.

              rs1480999027 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:109751756 (GRCh38)
                1:110294378 (GRCh37)
                Canonical SPDI:
                NC_000001.11:109751755:C:G
                Gene:
                EPS8L3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.00009/4 (ALFA)
                G=0.000008/2 (GnomAD_exomes)
                G=0.000019/5 (TOPMED)
                G=0.000021/3 (GnomAD)
                HGVS:
                NC_000001.11:g.109751756C>G, NC_000001.10:g.110294378C>G, NM_133181.4:c.1461G>C, NM_133181.3:c.1461G>C, XM_011542135.4:c.1296G>C, XM_011542135.3:c.1296G>C, XM_011542135.2:c.1296G>C, XM_011542135.1:c.1296G>C, XM_011542134.4:c.1386G>C, XM_011542134.3:c.1386G>C, XM_011542134.2:c.1386G>C, XM_011542134.1:c.1386G>C, NM_024526.4:c.1371G>C, NM_024526.3:c.1371G>C, XM_011542132.3:c.1488G>C, XM_011542132.2:c.1488G>C, XM_011542132.1:c.1488G>C, XM_011542133.3:c.1485G>C, XM_011542133.2:c.1485G>C, XM_011542133.1:c.1485G>C, NM_139053.3:c.1464G>C, NM_139053.2:c.1464G>C, XM_017002328.3:c.1398G>C, XM_017002328.2:c.1398G>C, XM_017002328.1:c.1398G>C, XM_017002329.3:c.1374G>C, XM_017002329.2:c.1374G>C, XM_017002329.1:c.1374G>C, XM_017002327.3:c.1488G>C, XM_017002327.2:c.1488G>C, XM_017002327.1:c.1488G>C, XR_001737407.3:n.1571G>C, XR_001737407.2:n.1594G>C, XR_001737407.1:n.1568G>C, NM_001319952.2:c.1272G>C, NM_001319952.1:c.1272G>C, XM_047430369.1:c.1386G>C, XM_047430384.1:c.1386G>C, XM_047430382.1:c.1359G>C, XM_047430379.1:c.1362G>C, XM_047430380.1:c.1359G>C, XR_007063682.1:n.1614G>C, NP_573444.2:p.Trp487Cys, XP_011540437.1:p.Trp432Cys, XP_011540436.1:p.Trp462Cys, NP_078802.2:p.Trp457Cys, XP_011540434.1:p.Trp496Cys, XP_011540435.1:p.Trp495Cys, NP_620641.1:p.Trp488Cys, XP_016857817.1:p.Trp466Cys, XP_016857818.1:p.Trp458Cys, XP_016857816.1:p.Trp496Cys, NP_001306881.1:p.Trp424Cys, XP_047286325.1:p.Trp462Cys, XP_047286340.1:p.Trp462Cys, XP_047286338.1:p.Trp453Cys, XP_047286335.1:p.Trp454Cys, XP_047286336.1:p.Trp453Cys

                8.

                rs1480245459 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  1:109759327 (GRCh38)
                  1:110301949 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:109759326:AT:
                  Gene:
                  EPS8L3 (Varview), LOC124904258 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.109759327_109759328del, NC_000001.10:g.110301949_110301950del, NM_133181.4:c.315_316del, NM_133181.3:c.315_316del, XM_011542135.4:c.213_214del, XM_011542135.3:c.213_214del, XM_011542135.2:c.213_214del, XM_011542135.1:c.213_214del, XM_011542134.4:c.213_214del, XM_011542134.3:c.213_214del, XM_011542134.2:c.213_214del, XM_011542134.1:c.213_214del, NM_024526.4:c.315_316del, NM_024526.3:c.315_316del, XM_011542132.3:c.315_316del, XM_011542132.2:c.315_316del, XM_011542132.1:c.315_316del, XM_011542133.3:c.315_316del, XM_011542133.2:c.315_316del, XM_011542133.1:c.315_316del, NM_139053.3:c.315_316del, NM_139053.2:c.315_316del, XM_017002328.3:c.315_316del, XM_017002328.2:c.315_316del, XM_017002328.1:c.315_316del, XM_017002329.3:c.315_316del, XM_017002329.2:c.315_316del, XM_017002329.1:c.315_316del, XM_017002327.3:c.315_316del, XM_017002327.2:c.315_316del, XM_017002327.1:c.315_316del, XR_001737407.3:n.441_442del, XR_001737407.2:n.464_465del, XR_001737407.1:n.438_439del, NM_001319952.2:c.213_214del, NM_001319952.1:c.213_214del, XM_047430369.1:c.213_214del, XM_047430384.1:c.213_214del, XM_047430382.1:c.213_214del, XM_047430379.1:c.213_214del, XM_047430380.1:c.213_214del, XR_007063682.1:n.441_442del, NP_573444.2:p.Cys106fs, XP_011540437.1:p.Cys72fs, XP_011540436.1:p.Cys72fs, NP_078802.2:p.Cys106fs, XP_011540434.1:p.Cys106fs, XP_011540435.1:p.Cys106fs, NP_620641.1:p.Cys106fs, XP_016857817.1:p.Cys106fs, XP_016857818.1:p.Cys106fs, XP_016857816.1:p.Cys106fs, NP_001306881.1:p.Cys72fs, XP_047286325.1:p.Cys72fs, XP_047286340.1:p.Cys72fs, XP_047286338.1:p.Cys72fs, XP_047286335.1:p.Cys72fs, XP_047286336.1:p.Cys72fs

                  9.

                  rs1479210291 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    1:109759331 (GRCh38)
                    1:110301953 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:109759330:G:T
                    Gene:
                    EPS8L3 (Varview), LOC124904258 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    T=0.000004/1 (TOPMED)
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.109759331G>T, NC_000001.10:g.110301953G>T, NM_133181.4:c.312C>A, NM_133181.3:c.312C>A, XM_011542135.4:c.210C>A, XM_011542135.3:c.210C>A, XM_011542135.2:c.210C>A, XM_011542135.1:c.210C>A, XM_011542134.4:c.210C>A, XM_011542134.3:c.210C>A, XM_011542134.2:c.210C>A, XM_011542134.1:c.210C>A, NM_024526.4:c.312C>A, NM_024526.3:c.312C>A, XM_011542132.3:c.312C>A, XM_011542132.2:c.312C>A, XM_011542132.1:c.312C>A, XM_011542133.3:c.312C>A, XM_011542133.2:c.312C>A, XM_011542133.1:c.312C>A, NM_139053.3:c.312C>A, NM_139053.2:c.312C>A, XM_017002328.3:c.312C>A, XM_017002328.2:c.312C>A, XM_017002328.1:c.312C>A, XM_017002329.3:c.312C>A, XM_017002329.2:c.312C>A, XM_017002329.1:c.312C>A, XM_017002327.3:c.312C>A, XM_017002327.2:c.312C>A, XM_017002327.1:c.312C>A, XR_001737407.3:n.438C>A, XR_001737407.2:n.461C>A, XR_001737407.1:n.435C>A, NM_001319952.2:c.210C>A, NM_001319952.1:c.210C>A, XM_047430369.1:c.210C>A, XM_047430384.1:c.210C>A, XM_047430382.1:c.210C>A, XM_047430379.1:c.210C>A, XM_047430380.1:c.210C>A, XR_007063682.1:n.438C>A, NP_573444.2:p.Asn104Lys, XP_011540437.1:p.Asn70Lys, XP_011540436.1:p.Asn70Lys, NP_078802.2:p.Asn104Lys, XP_011540434.1:p.Asn104Lys, XP_011540435.1:p.Asn104Lys, NP_620641.1:p.Asn104Lys, XP_016857817.1:p.Asn104Lys, XP_016857818.1:p.Asn104Lys, XP_016857816.1:p.Asn104Lys, NP_001306881.1:p.Asn70Lys, XP_047286325.1:p.Asn70Lys, XP_047286340.1:p.Asn70Lys, XP_047286338.1:p.Asn70Lys, XP_047286335.1:p.Asn70Lys, XP_047286336.1:p.Asn70Lys

                    10.

                    rs1477118286 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      1:109752137 (GRCh38)
                      1:110294759 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:109752136:T:A
                      Gene:
                      EPS8L3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000019/5 (TOPMED)
                      HGVS:
                      NC_000001.11:g.109752137T>A, NC_000001.10:g.110294759T>A, NM_133181.4:c.1292A>T, NM_133181.3:c.1292A>T, XM_011542134.4:c.1217A>T, XM_011542134.3:c.1217A>T, XM_011542134.2:c.1217A>T, XM_011542134.1:c.1217A>T, XM_011542132.3:c.1319A>T, XM_011542132.2:c.1319A>T, XM_011542132.1:c.1319A>T, XM_011542133.3:c.1316A>T, XM_011542133.2:c.1316A>T, XM_011542133.1:c.1316A>T, NM_139053.3:c.1295A>T, NM_139053.2:c.1295A>T, XM_017002327.3:c.1319A>T, XM_017002327.2:c.1319A>T, XM_017002327.1:c.1319A>T, XR_001737407.3:n.1402A>T, XR_001737407.2:n.1425A>T, XR_001737407.1:n.1399A>T, XM_047430369.1:c.1217A>T, XM_047430384.1:c.1217A>T, XM_047430382.1:c.1190A>T, XM_047430379.1:c.1193A>T, XM_047430380.1:c.1190A>T, XR_007063682.1:n.1445A>T, NP_573444.2:p.Asn431Ile, XP_011540436.1:p.Asn406Ile, XP_011540434.1:p.Asn440Ile, XP_011540435.1:p.Asn439Ile, NP_620641.1:p.Asn432Ile, XP_016857816.1:p.Asn440Ile, XP_047286325.1:p.Asn406Ile, XP_047286340.1:p.Asn406Ile, XP_047286338.1:p.Asn397Ile, XP_047286335.1:p.Asn398Ile, XP_047286336.1:p.Asn397Ile

                      11.

                      rs1473172026 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:109750393 (GRCh38)
                        1:110293015 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:109750392:A:G
                        Gene:
                        EPS8L3 (Varview)
                        Functional Consequence:
                        stop_lost,genic_downstream_transcript_variant,terminator_codon_variant,downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.109750393A>G, NC_000001.10:g.110293015A>G, NG_082147.1:g.81A>G, NM_133181.4:c.1780T>C, NM_133181.3:c.1780T>C, XM_011542135.4:c.1615T>C, XM_011542135.3:c.1615T>C, XM_011542135.2:c.1615T>C, XM_011542135.1:c.1615T>C, XM_011542134.4:c.1705T>C, XM_011542134.3:c.1705T>C, XM_011542134.2:c.1705T>C, XM_011542134.1:c.1705T>C, NM_024526.4:c.1690T>C, NM_024526.3:c.1690T>C, XM_011542132.3:c.1807T>C, XM_011542132.2:c.1807T>C, XM_011542132.1:c.1807T>C, XM_011542133.3:c.1804T>C, XM_011542133.2:c.1804T>C, XM_011542133.1:c.1804T>C, NM_139053.3:c.1783T>C, NM_139053.2:c.1783T>C, XM_017002328.3:c.1717T>C, XM_017002328.2:c.1717T>C, XM_017002328.1:c.1717T>C, XM_017002329.3:c.1693T>C, XM_017002329.2:c.1693T>C, XM_017002329.1:c.1693T>C, NM_001319952.2:c.1591T>C, NM_001319952.1:c.1591T>C, XM_047430369.1:c.1705T>C, XM_047430384.1:c.1705T>C, XM_047430382.1:c.1678T>C, XM_047430379.1:c.1681T>C, XM_047430380.1:c.1678T>C, NP_573444.2:p.Ter594Gln, XP_011540437.1:p.Ter539Gln, XP_011540436.1:p.Ter569Gln, NP_078802.2:p.Ter564Gln, XP_011540434.1:p.Ter603Gln, XP_011540435.1:p.Ter602Gln, NP_620641.1:p.Ter595Gln, XP_016857817.1:p.Ter573Gln, XP_016857818.1:p.Ter565Gln, NP_001306881.1:p.Ter531Gln, XP_047286325.1:p.Ter569Gln, XP_047286340.1:p.Ter569Gln, XP_047286338.1:p.Ter560Gln, XP_047286335.1:p.Ter561Gln, XP_047286336.1:p.Ter560Gln

                        12.

                        rs1472898307 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          1:109758543 (GRCh38)
                          1:110301165 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:109758542:G:A,NC_000001.11:109758542:G:T
                          Gene:
                          EPS8L3 (Varview), LOC124904258 (Varview)
                          Functional Consequence:
                          synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.109758543G>A, NC_000001.11:g.109758543G>T, NC_000001.10:g.110301165G>A, NC_000001.10:g.110301165G>T, NM_133181.4:c.582C>T, NM_133181.4:c.582C>A, NM_133181.3:c.582C>T, NM_133181.3:c.582C>A, XM_011542135.4:c.483C>T, XM_011542135.4:c.483C>A, XM_011542135.3:c.483C>T, XM_011542135.3:c.483C>A, XM_011542135.2:c.483C>T, XM_011542135.2:c.483C>A, XM_011542135.1:c.483C>T, XM_011542135.1:c.483C>A, XM_011542134.4:c.483C>T, XM_011542134.4:c.483C>A, XM_011542134.3:c.483C>T, XM_011542134.3:c.483C>A, XM_011542134.2:c.483C>T, XM_011542134.2:c.483C>A, XM_011542134.1:c.483C>T, XM_011542134.1:c.483C>A, NM_024526.4:c.582C>T, NM_024526.4:c.582C>A, NM_024526.3:c.582C>T, NM_024526.3:c.582C>A, XM_011542132.3:c.585C>T, XM_011542132.3:c.585C>A, XM_011542132.2:c.585C>T, XM_011542132.2:c.585C>A, XM_011542132.1:c.585C>T, XM_011542132.1:c.585C>A, XM_011542133.3:c.582C>T, XM_011542133.3:c.582C>A, XM_011542133.2:c.582C>T, XM_011542133.2:c.582C>A, XM_011542133.1:c.582C>T, XM_011542133.1:c.582C>A, NM_139053.3:c.585C>T, NM_139053.3:c.585C>A, NM_139053.2:c.585C>T, NM_139053.2:c.585C>A, XM_017002328.3:c.585C>T, XM_017002328.3:c.585C>A, XM_017002328.2:c.585C>T, XM_017002328.2:c.585C>A, XM_017002328.1:c.585C>T, XM_017002328.1:c.585C>A, XM_017002329.3:c.585C>T, XM_017002329.3:c.585C>A, XM_017002329.2:c.585C>T, XM_017002329.2:c.585C>A, XM_017002329.1:c.585C>T, XM_017002329.1:c.585C>A, XM_017002327.3:c.585C>T, XM_017002327.3:c.585C>A, XM_017002327.2:c.585C>T, XM_017002327.2:c.585C>A, XM_017002327.1:c.585C>T, XM_017002327.1:c.585C>A, XR_001737407.3:n.711C>T, XR_001737407.3:n.711C>A, XR_001737407.2:n.734C>T, XR_001737407.2:n.734C>A, XR_001737407.1:n.708C>T, XR_001737407.1:n.708C>A, NM_001319952.2:c.483C>T, NM_001319952.2:c.483C>A, NM_001319952.1:c.483C>T, NM_001319952.1:c.483C>A, XM_047430369.1:c.483C>T, XM_047430369.1:c.483C>A, XM_047430384.1:c.483C>T, XM_047430384.1:c.483C>A, XM_047430382.1:c.480C>T, XM_047430382.1:c.480C>A, XM_047430379.1:c.483C>T, XM_047430379.1:c.483C>A, XM_047430380.1:c.480C>T, XM_047430380.1:c.480C>A, XR_007063682.1:n.711C>T, XR_007063682.1:n.711C>A, NP_573444.2:p.His194Gln, XP_011540437.1:p.His161Gln, XP_011540436.1:p.His161Gln, NP_078802.2:p.His194Gln, XP_011540434.1:p.His195Gln, XP_011540435.1:p.His194Gln, NP_620641.1:p.His195Gln, XP_016857817.1:p.His195Gln, XP_016857818.1:p.His195Gln, XP_016857816.1:p.His195Gln, NP_001306881.1:p.His161Gln, XP_047286325.1:p.His161Gln, XP_047286340.1:p.His161Gln, XP_047286338.1:p.His160Gln, XP_047286335.1:p.His161Gln, XP_047286336.1:p.His160Gln

                          13.

                          rs1472229946 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:109757545 (GRCh38)
                            1:110300167 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:109757544:G:A
                            Gene:
                            EPS8L3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000001.11:g.109757545G>A, NC_000001.10:g.110300167G>A, NM_133181.4:c.905C>T, NM_133181.3:c.905C>T, XM_011542135.4:c.830C>T, XM_011542135.3:c.830C>T, XM_011542135.2:c.830C>T, XM_011542135.1:c.830C>T, XM_011542134.4:c.830C>T, XM_011542134.3:c.830C>T, XM_011542134.2:c.830C>T, XM_011542134.1:c.830C>T, NM_024526.4:c.905C>T, NM_024526.3:c.905C>T, XM_011542132.3:c.932C>T, XM_011542132.2:c.932C>T, XM_011542132.1:c.932C>T, XM_011542133.3:c.929C>T, XM_011542133.2:c.929C>T, XM_011542133.1:c.929C>T, NM_139053.3:c.908C>T, NM_139053.2:c.908C>T, XM_017002328.3:c.932C>T, XM_017002328.2:c.932C>T, XM_017002328.1:c.932C>T, XM_017002329.3:c.908C>T, XM_017002329.2:c.908C>T, XM_017002329.1:c.908C>T, XM_017002327.3:c.932C>T, XM_017002327.2:c.932C>T, XM_017002327.1:c.932C>T, XR_001737407.3:n.1058C>T, XR_001737407.2:n.1081C>T, XR_001737407.1:n.1055C>T, NM_001319952.2:c.806C>T, NM_001319952.1:c.806C>T, XM_047430369.1:c.830C>T, XM_047430384.1:c.830C>T, XM_047430382.1:c.803C>T, XM_047430379.1:c.806C>T, XM_047430380.1:c.803C>T, XR_007063682.1:n.1058C>T, NP_573444.2:p.Ala302Val, XP_011540437.1:p.Ala277Val, XP_011540436.1:p.Ala277Val, NP_078802.2:p.Ala302Val, XP_011540434.1:p.Ala311Val, XP_011540435.1:p.Ala310Val, NP_620641.1:p.Ala303Val, XP_016857817.1:p.Ala311Val, XP_016857818.1:p.Ala303Val, XP_016857816.1:p.Ala311Val, NP_001306881.1:p.Ala269Val, XP_047286325.1:p.Ala277Val, XP_047286340.1:p.Ala277Val, XP_047286338.1:p.Ala268Val, XP_047286335.1:p.Ala269Val, XP_047286336.1:p.Ala268Val

                            14.

                            rs1472167266 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:109758655 (GRCh38)
                              1:110301277 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:109758654:A:G
                              Gene:
                              EPS8L3 (Varview), LOC124904258 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.109758655A>G, NC_000001.10:g.110301277A>G, NM_133181.4:c.470T>C, NM_133181.3:c.470T>C, XM_011542135.4:c.371T>C, XM_011542135.3:c.371T>C, XM_011542135.2:c.371T>C, XM_011542135.1:c.371T>C, XM_011542134.4:c.371T>C, XM_011542134.3:c.371T>C, XM_011542134.2:c.371T>C, XM_011542134.1:c.371T>C, NM_024526.4:c.470T>C, NM_024526.3:c.470T>C, XM_011542132.3:c.473T>C, XM_011542132.2:c.473T>C, XM_011542132.1:c.473T>C, XM_011542133.3:c.470T>C, XM_011542133.2:c.470T>C, XM_011542133.1:c.470T>C, NM_139053.3:c.473T>C, NM_139053.2:c.473T>C, XM_017002328.3:c.473T>C, XM_017002328.2:c.473T>C, XM_017002328.1:c.473T>C, XM_017002329.3:c.473T>C, XM_017002329.2:c.473T>C, XM_017002329.1:c.473T>C, XM_017002327.3:c.473T>C, XM_017002327.2:c.473T>C, XM_017002327.1:c.473T>C, XR_001737407.3:n.599T>C, XR_001737407.2:n.622T>C, XR_001737407.1:n.596T>C, NM_001319952.2:c.371T>C, NM_001319952.1:c.371T>C, XM_047430369.1:c.371T>C, XM_047430384.1:c.371T>C, XM_047430382.1:c.368T>C, XM_047430379.1:c.371T>C, XM_047430380.1:c.368T>C, XR_007063682.1:n.599T>C, NP_573444.2:p.Leu157Pro, XP_011540437.1:p.Leu124Pro, XP_011540436.1:p.Leu124Pro, NP_078802.2:p.Leu157Pro, XP_011540434.1:p.Leu158Pro, XP_011540435.1:p.Leu157Pro, NP_620641.1:p.Leu158Pro, XP_016857817.1:p.Leu158Pro, XP_016857818.1:p.Leu158Pro, XP_016857816.1:p.Leu158Pro, NP_001306881.1:p.Leu124Pro, XP_047286325.1:p.Leu124Pro, XP_047286340.1:p.Leu124Pro, XP_047286338.1:p.Leu123Pro, XP_047286335.1:p.Leu124Pro, XP_047286336.1:p.Leu123Pro

                              15.

                              rs1463266614 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:109758626 (GRCh38)
                                1:110301248 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:109758625:A:G
                                Gene:
                                EPS8L3 (Varview), LOC124904258 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000001.11:g.109758626A>G, NC_000001.10:g.110301248A>G, NM_133181.4:c.499T>C, NM_133181.3:c.499T>C, XM_011542135.4:c.400T>C, XM_011542135.3:c.400T>C, XM_011542135.2:c.400T>C, XM_011542135.1:c.400T>C, XM_011542134.4:c.400T>C, XM_011542134.3:c.400T>C, XM_011542134.2:c.400T>C, XM_011542134.1:c.400T>C, NM_024526.4:c.499T>C, NM_024526.3:c.499T>C, XM_011542132.3:c.502T>C, XM_011542132.2:c.502T>C, XM_011542132.1:c.502T>C, XM_011542133.3:c.499T>C, XM_011542133.2:c.499T>C, XM_011542133.1:c.499T>C, NM_139053.3:c.502T>C, NM_139053.2:c.502T>C, XM_017002328.3:c.502T>C, XM_017002328.2:c.502T>C, XM_017002328.1:c.502T>C, XM_017002329.3:c.502T>C, XM_017002329.2:c.502T>C, XM_017002329.1:c.502T>C, XM_017002327.3:c.502T>C, XM_017002327.2:c.502T>C, XM_017002327.1:c.502T>C, XR_001737407.3:n.628T>C, XR_001737407.2:n.651T>C, XR_001737407.1:n.625T>C, NM_001319952.2:c.400T>C, NM_001319952.1:c.400T>C, XM_047430369.1:c.400T>C, XM_047430384.1:c.400T>C, XM_047430382.1:c.397T>C, XM_047430379.1:c.400T>C, XM_047430380.1:c.397T>C, XR_007063682.1:n.628T>C, NP_573444.2:p.Trp167Arg, XP_011540437.1:p.Trp134Arg, XP_011540436.1:p.Trp134Arg, NP_078802.2:p.Trp167Arg, XP_011540434.1:p.Trp168Arg, XP_011540435.1:p.Trp167Arg, NP_620641.1:p.Trp168Arg, XP_016857817.1:p.Trp168Arg, XP_016857818.1:p.Trp168Arg, XP_016857816.1:p.Trp168Arg, NP_001306881.1:p.Trp134Arg, XP_047286325.1:p.Trp134Arg, XP_047286340.1:p.Trp134Arg, XP_047286338.1:p.Trp133Arg, XP_047286335.1:p.Trp134Arg, XP_047286336.1:p.Trp133Arg

                                16.

                                rs1463123817 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  1:109757106 (GRCh38)
                                  1:110299728 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:109757105:G:A,NC_000001.11:109757105:G:T
                                  Gene:
                                  EPS8L3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.0001/1 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.109757106G>A, NC_000001.11:g.109757106G>T, NC_000001.10:g.110299728G>A, NC_000001.10:g.110299728G>T, NM_133181.4:c.1029C>T, NM_133181.4:c.1029C>A, NM_133181.3:c.1029C>T, NM_133181.3:c.1029C>A, XM_011542135.4:c.954C>T, XM_011542135.4:c.954C>A, XM_011542135.3:c.954C>T, XM_011542135.3:c.954C>A, XM_011542135.2:c.954C>T, XM_011542135.2:c.954C>A, XM_011542135.1:c.954C>T, XM_011542135.1:c.954C>A, XM_011542134.4:c.954C>T, XM_011542134.4:c.954C>A, XM_011542134.3:c.954C>T, XM_011542134.3:c.954C>A, XM_011542134.2:c.954C>T, XM_011542134.2:c.954C>A, XM_011542134.1:c.954C>T, XM_011542134.1:c.954C>A, NM_024526.4:c.1029C>T, NM_024526.4:c.1029C>A, NM_024526.3:c.1029C>T, NM_024526.3:c.1029C>A, XM_011542132.3:c.1056C>T, XM_011542132.3:c.1056C>A, XM_011542132.2:c.1056C>T, XM_011542132.2:c.1056C>A, XM_011542132.1:c.1056C>T, XM_011542132.1:c.1056C>A, XM_011542133.3:c.1053C>T, XM_011542133.3:c.1053C>A, XM_011542133.2:c.1053C>T, XM_011542133.2:c.1053C>A, XM_011542133.1:c.1053C>T, XM_011542133.1:c.1053C>A, NM_139053.3:c.1032C>T, NM_139053.3:c.1032C>A, NM_139053.2:c.1032C>T, NM_139053.2:c.1032C>A, XM_017002328.3:c.1056C>T, XM_017002328.3:c.1056C>A, XM_017002328.2:c.1056C>T, XM_017002328.2:c.1056C>A, XM_017002328.1:c.1056C>T, XM_017002328.1:c.1056C>A, XM_017002329.3:c.1032C>T, XM_017002329.3:c.1032C>A, XM_017002329.2:c.1032C>T, XM_017002329.2:c.1032C>A, XM_017002329.1:c.1032C>T, XM_017002329.1:c.1032C>A, XM_017002327.3:c.1056C>T, XM_017002327.3:c.1056C>A, XM_017002327.2:c.1056C>T, XM_017002327.2:c.1056C>A, XM_017002327.1:c.1056C>T, XM_017002327.1:c.1056C>A, XR_001737407.3:n.1182C>T, XR_001737407.3:n.1182C>A, XR_001737407.2:n.1205C>T, XR_001737407.2:n.1205C>A, XR_001737407.1:n.1179C>T, XR_001737407.1:n.1179C>A, NM_001319952.2:c.930C>T, NM_001319952.2:c.930C>A, NM_001319952.1:c.930C>T, NM_001319952.1:c.930C>A, XM_047430369.1:c.954C>T, XM_047430369.1:c.954C>A, XM_047430384.1:c.954C>T, XM_047430384.1:c.954C>A, XM_047430382.1:c.927C>T, XM_047430382.1:c.927C>A, XM_047430379.1:c.930C>T, XM_047430379.1:c.930C>A, XM_047430380.1:c.927C>T, XM_047430380.1:c.927C>A, XR_007063682.1:n.1182C>T, XR_007063682.1:n.1182C>A

                                  17.

                                  rs1461903845 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:109759350 (GRCh38)
                                    1:110301972 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:109759349:G:A
                                    Gene:
                                    EPS8L3 (Varview), LOC124904258 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000001.11:g.109759350G>A, NC_000001.10:g.110301972G>A, NM_133181.4:c.293C>T, NM_133181.3:c.293C>T, XM_011542135.4:c.191C>T, XM_011542135.3:c.191C>T, XM_011542135.2:c.191C>T, XM_011542135.1:c.191C>T, XM_011542134.4:c.191C>T, XM_011542134.3:c.191C>T, XM_011542134.2:c.191C>T, XM_011542134.1:c.191C>T, NM_024526.4:c.293C>T, NM_024526.3:c.293C>T, XM_011542132.3:c.293C>T, XM_011542132.2:c.293C>T, XM_011542132.1:c.293C>T, XM_011542133.3:c.293C>T, XM_011542133.2:c.293C>T, XM_011542133.1:c.293C>T, NM_139053.3:c.293C>T, NM_139053.2:c.293C>T, XM_017002328.3:c.293C>T, XM_017002328.2:c.293C>T, XM_017002328.1:c.293C>T, XM_017002329.3:c.293C>T, XM_017002329.2:c.293C>T, XM_017002329.1:c.293C>T, XM_017002327.3:c.293C>T, XM_017002327.2:c.293C>T, XM_017002327.1:c.293C>T, XR_001737407.3:n.419C>T, XR_001737407.2:n.442C>T, XR_001737407.1:n.416C>T, NM_001319952.2:c.191C>T, NM_001319952.1:c.191C>T, XM_047430369.1:c.191C>T, XM_047430384.1:c.191C>T, XM_047430382.1:c.191C>T, XM_047430379.1:c.191C>T, XM_047430380.1:c.191C>T, XR_007063682.1:n.419C>T, NP_573444.2:p.Ala98Val, XP_011540437.1:p.Ala64Val, XP_011540436.1:p.Ala64Val, NP_078802.2:p.Ala98Val, XP_011540434.1:p.Ala98Val, XP_011540435.1:p.Ala98Val, NP_620641.1:p.Ala98Val, XP_016857817.1:p.Ala98Val, XP_016857818.1:p.Ala98Val, XP_016857816.1:p.Ala98Val, NP_001306881.1:p.Ala64Val, XP_047286325.1:p.Ala64Val, XP_047286340.1:p.Ala64Val, XP_047286338.1:p.Ala64Val, XP_047286335.1:p.Ala64Val, XP_047286336.1:p.Ala64Val

                                    18.

                                    rs1460572238 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:109758641 (GRCh38)
                                      1:110301263 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:109758640:G:A
                                      Gene:
                                      EPS8L3 (Varview), LOC124904258 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000001.11:g.109758641G>A, NC_000001.10:g.110301263G>A, NM_133181.4:c.484C>T, NM_133181.3:c.484C>T, XM_011542135.4:c.385C>T, XM_011542135.3:c.385C>T, XM_011542135.2:c.385C>T, XM_011542135.1:c.385C>T, XM_011542134.4:c.385C>T, XM_011542134.3:c.385C>T, XM_011542134.2:c.385C>T, XM_011542134.1:c.385C>T, NM_024526.4:c.484C>T, NM_024526.3:c.484C>T, XM_011542132.3:c.487C>T, XM_011542132.2:c.487C>T, XM_011542132.1:c.487C>T, XM_011542133.3:c.484C>T, XM_011542133.2:c.484C>T, XM_011542133.1:c.484C>T, NM_139053.3:c.487C>T, NM_139053.2:c.487C>T, XM_017002328.3:c.487C>T, XM_017002328.2:c.487C>T, XM_017002328.1:c.487C>T, XM_017002329.3:c.487C>T, XM_017002329.2:c.487C>T, XM_017002329.1:c.487C>T, XM_017002327.3:c.487C>T, XM_017002327.2:c.487C>T, XM_017002327.1:c.487C>T, XR_001737407.3:n.613C>T, XR_001737407.2:n.636C>T, XR_001737407.1:n.610C>T, NM_001319952.2:c.385C>T, NM_001319952.1:c.385C>T, XM_047430369.1:c.385C>T, XM_047430384.1:c.385C>T, XM_047430382.1:c.382C>T, XM_047430379.1:c.385C>T, XM_047430380.1:c.382C>T, XR_007063682.1:n.613C>T, NP_573444.2:p.Pro162Ser, XP_011540437.1:p.Pro129Ser, XP_011540436.1:p.Pro129Ser, NP_078802.2:p.Pro162Ser, XP_011540434.1:p.Pro163Ser, XP_011540435.1:p.Pro162Ser, NP_620641.1:p.Pro163Ser, XP_016857817.1:p.Pro163Ser, XP_016857818.1:p.Pro163Ser, XP_016857816.1:p.Pro163Ser, NP_001306881.1:p.Pro129Ser, XP_047286325.1:p.Pro129Ser, XP_047286340.1:p.Pro129Ser, XP_047286338.1:p.Pro128Ser, XP_047286335.1:p.Pro129Ser, XP_047286336.1:p.Pro128Ser

                                      19.

                                      rs1460558799 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:109752086 (GRCh38)
                                        1:110294708 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:109752085:G:A
                                        Gene:
                                        EPS8L3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.109752086G>A, NC_000001.10:g.110294708G>A, NM_133181.4:c.1343C>T, NM_133181.3:c.1343C>T, XM_011542135.4:c.1178C>T, XM_011542135.3:c.1178C>T, XM_011542135.2:c.1178C>T, XM_011542135.1:c.1178C>T, XM_011542134.4:c.1268C>T, XM_011542134.3:c.1268C>T, XM_011542134.2:c.1268C>T, XM_011542134.1:c.1268C>T, NM_024526.4:c.1253C>T, NM_024526.3:c.1253C>T, XM_011542132.3:c.1370C>T, XM_011542132.2:c.1370C>T, XM_011542132.1:c.1370C>T, XM_011542133.3:c.1367C>T, XM_011542133.2:c.1367C>T, XM_011542133.1:c.1367C>T, NM_139053.3:c.1346C>T, NM_139053.2:c.1346C>T, XM_017002328.3:c.1280C>T, XM_017002328.2:c.1280C>T, XM_017002328.1:c.1280C>T, XM_017002329.3:c.1256C>T, XM_017002329.2:c.1256C>T, XM_017002329.1:c.1256C>T, XM_017002327.3:c.1370C>T, XM_017002327.2:c.1370C>T, XM_017002327.1:c.1370C>T, XR_001737407.3:n.1453C>T, XR_001737407.2:n.1476C>T, XR_001737407.1:n.1450C>T, NM_001319952.2:c.1154C>T, NM_001319952.1:c.1154C>T, XM_047430369.1:c.1268C>T, XM_047430384.1:c.1268C>T, XM_047430382.1:c.1241C>T, XM_047430379.1:c.1244C>T, XM_047430380.1:c.1241C>T, XR_007063682.1:n.1496C>T, NP_573444.2:p.Pro448Leu, XP_011540437.1:p.Pro393Leu, XP_011540436.1:p.Pro423Leu, NP_078802.2:p.Pro418Leu, XP_011540434.1:p.Pro457Leu, XP_011540435.1:p.Pro456Leu, NP_620641.1:p.Pro449Leu, XP_016857817.1:p.Pro427Leu, XP_016857818.1:p.Pro419Leu, XP_016857816.1:p.Pro457Leu, NP_001306881.1:p.Pro385Leu, XP_047286325.1:p.Pro423Leu, XP_047286340.1:p.Pro423Leu, XP_047286338.1:p.Pro414Leu, XP_047286335.1:p.Pro415Leu, XP_047286336.1:p.Pro414Leu

                                        20.

                                        rs1460465756 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          1:109750757 (GRCh38)
                                          1:110293379 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:109750756:T:A
                                          Gene:
                                          EPS8L3 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.109750757T>A, NC_000001.10:g.110293379T>A, NG_082147.1:g.445T>A, NM_133181.4:c.1673A>T, NM_133181.3:c.1673A>T, XM_011542135.4:c.1508A>T, XM_011542135.3:c.1508A>T, XM_011542135.2:c.1508A>T, XM_011542135.1:c.1508A>T, XM_011542134.4:c.1598A>T, XM_011542134.3:c.1598A>T, XM_011542134.2:c.1598A>T, XM_011542134.1:c.1598A>T, NM_024526.4:c.1583A>T, NM_024526.3:c.1583A>T, XM_011542132.3:c.1700A>T, XM_011542132.2:c.1700A>T, XM_011542132.1:c.1700A>T, XM_011542133.3:c.1697A>T, XM_011542133.2:c.1697A>T, XM_011542133.1:c.1697A>T, NM_139053.3:c.1676A>T, NM_139053.2:c.1676A>T, XM_017002328.3:c.1610A>T, XM_017002328.2:c.1610A>T, XM_017002328.1:c.1610A>T, XM_017002329.3:c.1586A>T, XM_017002329.2:c.1586A>T, XM_017002329.1:c.1586A>T, NM_001319952.2:c.1484A>T, NM_001319952.1:c.1484A>T, XM_047430369.1:c.1598A>T, XM_047430384.1:c.1598A>T, XM_047430382.1:c.1571A>T, XM_047430379.1:c.1574A>T, XM_047430380.1:c.1571A>T, XR_007063682.1:n.1896A>T, NP_573444.2:p.Gln558Leu, XP_011540437.1:p.Gln503Leu, XP_011540436.1:p.Gln533Leu, NP_078802.2:p.Gln528Leu, XP_011540434.1:p.Gln567Leu, XP_011540435.1:p.Gln566Leu, NP_620641.1:p.Gln559Leu, XP_016857817.1:p.Gln537Leu, XP_016857818.1:p.Gln529Leu, NP_001306881.1:p.Gln495Leu, XP_047286325.1:p.Gln533Leu, XP_047286340.1:p.Gln533Leu, XP_047286338.1:p.Gln524Leu, XP_047286335.1:p.Gln525Leu, XP_047286336.1:p.Gln524Leu

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