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Items: 1 to 20 of 882

1.

rs1488796105 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    1:24652492 (GRCh38)
    1:24978984 (GRCh37)
    Canonical SPDI:
    NC_000001.11:24652492:AAAAAAA:AAAAAAAA
    Gene:
    SRRM1 (Varview)
    Functional Consequence:
    frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
    HGVS:
    NC_000001.11:g.24652499dup, NC_000001.10:g.24978990dup, NM_005839.4:c.791dup, NM_005839.3:c.791dup, XM_017000011.2:c.674dup, XM_017000011.1:c.674dup, XM_017000012.2:c.674dup, XM_017000012.1:c.674dup, XM_017000013.2:c.674dup, XM_017000013.1:c.674dup, XM_017000014.2:c.674dup, XM_017000014.1:c.674dup, XM_017000015.2:c.674dup, XM_017000015.1:c.674dup, XM_017000017.2:c.584dup, XM_017000017.1:c.584dup, NM_001303448.2:c.791dup, NM_001303448.1:c.791dup, XM_017000034.2:c.584dup, XM_017000034.1:c.584dup, NR_159378.1:n.2885dup, NM_001366568.1:c.542dup, NM_001366585.1:c.542dup, NM_001366573.1:c.542dup, NM_001366584.1:c.542dup, NM_001366587.1:c.452dup, NM_001366598.1:c.542dup, NR_159391.1:n.2596dup, NR_159388.1:n.2596dup, NM_001366571.1:c.542dup, NM_001366593.1:c.542dup, NR_159379.1:n.2596dup, NM_001366590.1:c.542dup, NM_001366570.1:c.542dup, NR_159389.1:n.2596dup, NM_001366565.1:c.542dup, NM_001366572.1:c.542dup, NM_001366567.1:c.542dup, NR_159385.1:n.2506dup, NM_001366591.1:c.452dup, NM_001366594.1:c.452dup, NM_001366586.1:c.452dup, XM_047427315.1:c.542dup, XM_047427340.1:c.452dup, XM_047427357.1:c.452dup, XM_047427270.1:c.542dup, XM_047427257.1:c.542dup, NR_159383.1:n.946dup, NR_159387.1:n.946dup, NM_001366600.1:c.542dup, NM_001303449.1:c.674dup, NM_001366597.1:c.674dup, NM_001366566.1:c.542dup, NM_001366599.1:c.542dup, XM_047427027.1:c.674dup, NR_159390.1:n.834dup, NR_159380.1:n.816dup, NM_001366578.1:c.452dup, XM_047427056.1:c.584dup, NM_001366596.1:c.584dup, NM_001366595.1:c.791dup, NM_001366569.1:c.791dup, XM_047427068.1:c.584dup, NR_159382.1:n.816dup, XM_047427112.1:c.584dup, NM_001366575.1:c.791dup, XM_047427126.1:c.584dup, XM_047427145.1:c.584dup, NR_159386.1:n.726dup, NM_001366582.1:c.791dup, NM_001366588.1:c.791dup, NM_001366589.1:c.791dup, NR_159384.1:n.726dup, NM_001366577.1:c.701dup, NM_001366576.1:c.701dup, NM_001366581.1:c.701dup, XM_047427154.1:c.701dup, XM_047427188.1:c.701dup, XM_047427220.1:c.701dup, NM_001366592.1:c.701dup, XM_047427247.1:c.701dup, XR_007062492.1:n.816dup, XM_047427394.1:c.791dup, XM_047427397.1:c.791dup, NP_005830.2:p.Asn264fs, XP_016855500.1:p.Asn225fs, XP_016855501.1:p.Asn225fs, XP_016855502.1:p.Asn225fs, XP_016855503.1:p.Asn225fs, XP_016855504.1:p.Asn225fs, XP_016855506.1:p.Asn195fs, NP_001290377.1:p.Asn264fs, XP_016855523.1:p.Asn195fs, NP_001353497.1:p.Asn181fs, NP_001353514.1:p.Asn181fs, NP_001353502.1:p.Asn181fs, NP_001353513.1:p.Asn181fs, NP_001353516.1:p.Asn151fs, NP_001353527.1:p.Asn181fs, NP_001353500.1:p.Asn181fs, NP_001353522.1:p.Asn181fs, NP_001353519.1:p.Asn181fs, NP_001353499.1:p.Asn181fs, NP_001353494.1:p.Asn181fs, NP_001353501.1:p.Asn181fs, NP_001353496.1:p.Asn181fs, NP_001353520.1:p.Asn151fs, NP_001353523.1:p.Asn151fs, NP_001353515.1:p.Asn151fs, XP_047283271.1:p.Asn181fs, XP_047283296.1:p.Asn151fs, XP_047283313.1:p.Asn151fs, XP_047283226.1:p.Asn181fs, XP_047283213.1:p.Asn181fs, NP_001353529.1:p.Asn181fs, NP_001290378.1:p.Asn225fs, NP_001353526.1:p.Asn225fs, NP_001353495.1:p.Asn181fs, NP_001353528.1:p.Asn181fs, XP_047282983.1:p.Asn225fs, NP_001353507.1:p.Asn151fs, XP_047283012.1:p.Asn195fs, NP_001353525.1:p.Asn195fs, NP_001353524.1:p.Asn264fs, NP_001353498.1:p.Asn264fs, XP_047283024.1:p.Asn195fs, XP_047283068.1:p.Asn195fs, NP_001353504.1:p.Asn264fs, XP_047283082.1:p.Asn195fs, XP_047283101.1:p.Asn195fs, NP_001353511.1:p.Asn264fs, NP_001353517.1:p.Asn264fs, NP_001353518.1:p.Asn264fs, NP_001353506.1:p.Asn234fs, NP_001353505.1:p.Asn234fs, NP_001353510.1:p.Asn234fs, XP_047283110.1:p.Asn234fs, XP_047283144.1:p.Asn234fs, XP_047283176.1:p.Asn234fs, NP_001353521.1:p.Asn234fs, XP_047283203.1:p.Asn234fs, XP_047283350.1:p.Asn264fs, XP_047283353.1:p.Asn264fs

    2.

    rs1488322528 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:24652923 (GRCh38)
      1:24979414 (GRCh37)
      Canonical SPDI:
      NC_000001.11:24652922:C:G
      Gene:
      SRRM1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.24652923C>G, NC_000001.10:g.24979414C>G, NM_005839.4:c.931C>G, NM_005839.3:c.931C>G, XM_017000011.2:c.814C>G, XM_017000011.1:c.814C>G, XM_017000012.2:c.814C>G, XM_017000012.1:c.814C>G, XM_017000013.2:c.814C>G, XM_017000013.1:c.814C>G, XM_017000014.2:c.814C>G, XM_017000014.1:c.814C>G, XM_017000015.2:c.814C>G, XM_017000015.1:c.814C>G, XM_017000017.2:c.724C>G, XM_017000017.1:c.724C>G, NM_001303448.2:c.931C>G, NM_001303448.1:c.931C>G, XM_017000034.2:c.724C>G, XM_017000034.1:c.724C>G, NR_159378.1:n.3025C>G, NM_001366568.1:c.682C>G, NM_001366585.1:c.682C>G, NM_001366573.1:c.682C>G, NM_001366584.1:c.682C>G, NM_001366587.1:c.592C>G, NM_001366598.1:c.682C>G, NR_159391.1:n.2736C>G, NR_159388.1:n.2736C>G, NM_001366571.1:c.682C>G, NM_001366593.1:c.682C>G, NR_159379.1:n.2736C>G, NM_001366590.1:c.682C>G, NM_001366570.1:c.682C>G, NR_159389.1:n.2736C>G, NM_001366565.1:c.682C>G, NM_001366572.1:c.682C>G, NM_001366567.1:c.682C>G, NR_159385.1:n.2646C>G, NM_001366591.1:c.592C>G, NM_001366594.1:c.592C>G, NM_001366586.1:c.592C>G, XM_047427315.1:c.682C>G, XM_047427340.1:c.592C>G, XM_047427357.1:c.592C>G, XM_047427270.1:c.682C>G, XM_047427257.1:c.682C>G, NR_159383.1:n.1086C>G, NR_159387.1:n.1086C>G, NM_001366600.1:c.682C>G, NM_001303449.1:c.814C>G, NM_001366597.1:c.814C>G, NM_001366566.1:c.682C>G, NM_001366599.1:c.682C>G, XM_047427027.1:c.814C>G, NR_159390.1:n.974C>G, NR_159380.1:n.956C>G, NM_001366578.1:c.592C>G, XM_047427056.1:c.724C>G, NM_001366596.1:c.724C>G, NM_001366595.1:c.931C>G, NM_001366569.1:c.931C>G, XM_047427068.1:c.724C>G, NR_159382.1:n.956C>G, XM_047427112.1:c.724C>G, NM_001366575.1:c.931C>G, XM_047427126.1:c.724C>G, XM_047427145.1:c.724C>G, NR_159386.1:n.866C>G, NM_001366582.1:c.931C>G, NM_001366588.1:c.931C>G, NM_001366589.1:c.931C>G, NR_159384.1:n.866C>G, NM_001366577.1:c.841C>G, NM_001366576.1:c.841C>G, NM_001366581.1:c.841C>G, XM_047427154.1:c.841C>G, XM_047427188.1:c.841C>G, XM_047427220.1:c.841C>G, NM_001366592.1:c.841C>G, XM_047427247.1:c.841C>G, XR_007062492.1:n.956C>G, XM_047427394.1:c.931C>G, XM_047427397.1:c.931C>G, NP_005830.2:p.Pro311Ala, XP_016855500.1:p.Pro272Ala, XP_016855501.1:p.Pro272Ala, XP_016855502.1:p.Pro272Ala, XP_016855503.1:p.Pro272Ala, XP_016855504.1:p.Pro272Ala, XP_016855506.1:p.Pro242Ala, NP_001290377.1:p.Pro311Ala, XP_016855523.1:p.Pro242Ala, NP_001353497.1:p.Pro228Ala, NP_001353514.1:p.Pro228Ala, NP_001353502.1:p.Pro228Ala, NP_001353513.1:p.Pro228Ala, NP_001353516.1:p.Pro198Ala, NP_001353527.1:p.Pro228Ala, NP_001353500.1:p.Pro228Ala, NP_001353522.1:p.Pro228Ala, NP_001353519.1:p.Pro228Ala, NP_001353499.1:p.Pro228Ala, NP_001353494.1:p.Pro228Ala, NP_001353501.1:p.Pro228Ala, NP_001353496.1:p.Pro228Ala, NP_001353520.1:p.Pro198Ala, NP_001353523.1:p.Pro198Ala, NP_001353515.1:p.Pro198Ala, XP_047283271.1:p.Pro228Ala, XP_047283296.1:p.Pro198Ala, XP_047283313.1:p.Pro198Ala, XP_047283226.1:p.Pro228Ala, XP_047283213.1:p.Pro228Ala, NP_001353529.1:p.Pro228Ala, NP_001290378.1:p.Pro272Ala, NP_001353526.1:p.Pro272Ala, NP_001353495.1:p.Pro228Ala, NP_001353528.1:p.Pro228Ala, XP_047282983.1:p.Pro272Ala, NP_001353507.1:p.Pro198Ala, XP_047283012.1:p.Pro242Ala, NP_001353525.1:p.Pro242Ala, NP_001353524.1:p.Pro311Ala, NP_001353498.1:p.Pro311Ala, XP_047283024.1:p.Pro242Ala, XP_047283068.1:p.Pro242Ala, NP_001353504.1:p.Pro311Ala, XP_047283082.1:p.Pro242Ala, XP_047283101.1:p.Pro242Ala, NP_001353511.1:p.Pro311Ala, NP_001353517.1:p.Pro311Ala, NP_001353518.1:p.Pro311Ala, NP_001353506.1:p.Pro281Ala, NP_001353505.1:p.Pro281Ala, NP_001353510.1:p.Pro281Ala, XP_047283110.1:p.Pro281Ala, XP_047283144.1:p.Pro281Ala, XP_047283176.1:p.Pro281Ala, NP_001353521.1:p.Pro281Ala, XP_047283203.1:p.Pro281Ala, XP_047283350.1:p.Pro311Ala, XP_047283353.1:p.Pro311Ala

      3.

      rs1486737328 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:24662705 (GRCh38)
        1:24989196 (GRCh37)
        Canonical SPDI:
        NC_000001.11:24662704:C:G
        Gene:
        SRRM1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.24662705C>G, NC_000001.10:g.24989196C>G, NM_005839.4:c.1529C>G, NM_005839.3:c.1529C>G, XM_017000011.2:c.1409C>G, XM_017000011.1:c.1409C>G, XM_017000012.2:c.1403C>G, XM_017000012.1:c.1403C>G, XM_017000013.2:c.1412C>G, XM_017000013.1:c.1412C>G, XM_017000014.2:c.1409C>G, XM_017000014.1:c.1409C>G, XM_017000015.2:c.1406C>G, XM_017000015.1:c.1406C>G, XM_017000017.2:c.1319C>G, XM_017000017.1:c.1319C>G, NM_001303448.2:c.1523C>G, NM_001303448.1:c.1523C>G, NR_159378.1:n.3661C>G, NM_001366568.1:c.1280C>G, NM_001366585.1:c.1277C>G, NM_001366573.1:c.1274C>G, NM_001366584.1:c.1274C>G, NM_001366587.1:c.1190C>G, NM_001366598.1:c.1277C>G, NR_159391.1:n.3372C>G, NR_159388.1:n.3367C>G, NM_001366571.1:c.1280C>G, NM_001366593.1:c.1277C>G, NR_159379.1:n.3372C>G, NM_001366590.1:c.1274C>G, NM_001366570.1:c.1271C>G, NR_159389.1:n.3366C>G, NM_001366565.1:c.1280C>G, NM_001366572.1:c.1277C>G, NM_001366567.1:c.1274C>G, NR_159385.1:n.3276C>G, NM_001366591.1:c.1190C>G, NM_001366594.1:c.1187C>G, NM_001366586.1:c.1190C>G, XM_047427315.1:c.1271C>G, XM_047427340.1:c.1184C>G, XM_047427357.1:c.1184C>G, XM_047427270.1:c.1280C>G, XM_047427257.1:c.1280C>G, NR_159383.1:n.1723C>G, NR_159387.1:n.1722C>G, NM_001366600.1:c.1280C>G, NM_001303449.1:c.1406C>G, NM_001366597.1:c.1412C>G, NM_001366566.1:c.1280C>G, NM_001366599.1:c.1274C>G, XM_047427027.1:c.1403C>G, NR_159390.1:n.1601C>G, NR_159380.1:n.1592C>G, NM_001366578.1:c.1187C>G, XM_047427056.1:c.1316C>G, NM_001366596.1:c.1322C>G, NM_001366595.1:c.1529C>G, NM_001366569.1:c.1526C>G, XM_047427068.1:c.1322C>G, NR_159382.1:n.1592C>G, XM_047427112.1:c.1319C>G, NM_001366575.1:c.1520C>G, XM_047427126.1:c.1316C>G, XM_047427145.1:c.1313C>G, NR_159386.1:n.1535C>G, NM_001366582.1:c.1526C>G, NM_001366588.1:c.1523C>G, NM_001366589.1:c.1520C>G, NR_159384.1:n.1502C>G, NM_001366577.1:c.1439C>G, NM_001366576.1:c.1436C>G, NM_001366581.1:c.1433C>G, XM_047427154.1:c.1430C>G, XM_047427188.1:c.1439C>G, XM_047427220.1:c.1436C>G, NM_001366592.1:c.1433C>G, XM_047427247.1:c.1430C>G, NP_005830.2:p.Ser510Cys, XP_016855500.1:p.Ser470Cys, XP_016855501.1:p.Ser468Cys, XP_016855502.1:p.Ser471Cys, XP_016855503.1:p.Ser470Cys, XP_016855504.1:p.Ser469Cys, XP_016855506.1:p.Ser440Cys, NP_001290377.1:p.Ser508Cys, NP_001353497.1:p.Ser427Cys, NP_001353514.1:p.Ser426Cys, NP_001353502.1:p.Ser425Cys, NP_001353513.1:p.Ser425Cys, NP_001353516.1:p.Ser397Cys, NP_001353527.1:p.Ser426Cys, NP_001353500.1:p.Ser427Cys, NP_001353522.1:p.Ser426Cys, NP_001353519.1:p.Ser425Cys, NP_001353499.1:p.Ser424Cys, NP_001353494.1:p.Ser427Cys, NP_001353501.1:p.Ser426Cys, NP_001353496.1:p.Ser425Cys, NP_001353520.1:p.Ser397Cys, NP_001353523.1:p.Ser396Cys, NP_001353515.1:p.Ser397Cys, XP_047283271.1:p.Ser424Cys, XP_047283296.1:p.Ser395Cys, XP_047283313.1:p.Ser395Cys, XP_047283226.1:p.Ser427Cys, XP_047283213.1:p.Ser427Cys, NP_001353529.1:p.Ser427Cys, NP_001290378.1:p.Ser469Cys, NP_001353526.1:p.Ser471Cys, NP_001353495.1:p.Ser427Cys, NP_001353528.1:p.Ser425Cys, XP_047282983.1:p.Ser468Cys, NP_001353507.1:p.Ser396Cys, XP_047283012.1:p.Ser439Cys, NP_001353525.1:p.Ser441Cys, NP_001353524.1:p.Ser510Cys, NP_001353498.1:p.Ser509Cys, XP_047283024.1:p.Ser441Cys, XP_047283068.1:p.Ser440Cys, NP_001353504.1:p.Ser507Cys, XP_047283082.1:p.Ser439Cys, XP_047283101.1:p.Ser438Cys, NP_001353511.1:p.Ser509Cys, NP_001353517.1:p.Ser508Cys, NP_001353518.1:p.Ser507Cys, NP_001353506.1:p.Ser480Cys, NP_001353505.1:p.Ser479Cys, NP_001353510.1:p.Ser478Cys, XP_047283110.1:p.Ser477Cys, XP_047283144.1:p.Ser480Cys, XP_047283176.1:p.Ser479Cys, NP_001353521.1:p.Ser478Cys, XP_047283203.1:p.Ser477Cys

        4.

        rs1486347474 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          1:24669460 (GRCh38)
          1:24995951 (GRCh37)
          Canonical SPDI:
          NC_000001.11:24669459:A:G,NC_000001.11:24669459:A:T
          Gene:
          SRRM1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.24669460A>G, NC_000001.11:g.24669460A>T, NC_000001.10:g.24995951A>G, NC_000001.10:g.24995951A>T, NM_005839.4:c.2077A>G, NM_005839.4:c.2077A>T, NM_005839.3:c.2077A>G, NM_005839.3:c.2077A>T, XM_017000011.2:c.1999A>G, XM_017000011.2:c.1999A>T, XM_017000011.1:c.1999A>G, XM_017000011.1:c.1999A>T, XM_017000012.2:c.1993A>G, XM_017000012.2:c.1993A>T, XM_017000012.1:c.1993A>G, XM_017000012.1:c.1993A>T, XM_017000013.2:c.1960A>G, XM_017000013.2:c.1960A>T, XM_017000013.1:c.1960A>G, XM_017000013.1:c.1960A>T, XM_017000014.2:c.1957A>G, XM_017000014.2:c.1957A>T, XM_017000014.1:c.1957A>G, XM_017000014.1:c.1957A>T, XM_017000015.2:c.1954A>G, XM_017000015.2:c.1954A>T, XM_017000015.1:c.1954A>G, XM_017000015.1:c.1954A>T, XM_017000017.2:c.1909A>G, XM_017000017.2:c.1909A>T, XM_017000017.1:c.1909A>G, XM_017000017.1:c.1909A>T, NM_001303448.2:c.2113A>G, NM_001303448.2:c.2113A>T, NM_001303448.1:c.2113A>G, NM_001303448.1:c.2113A>T, NR_159378.1:n.4251A>G, NR_159378.1:n.4251A>T, NM_001366568.1:c.1870A>G, NM_001366568.1:c.1870A>T, NM_001366585.1:c.1867A>G, NM_001366585.1:c.1867A>T, NM_001366573.1:c.1864A>G, NM_001366573.1:c.1864A>T, NM_001366584.1:c.1822A>G, NM_001366584.1:c.1822A>T, NM_001366587.1:c.1780A>G, NM_001366587.1:c.1780A>T, NM_001366598.1:c.1825A>G, NM_001366598.1:c.1825A>T, NR_159391.1:n.3962A>G, NR_159391.1:n.3962A>T, NR_159388.1:n.3957A>G, NR_159388.1:n.3957A>T, NM_001366571.1:c.1870A>G, NM_001366571.1:c.1870A>T, NM_001366593.1:c.1867A>G, NM_001366593.1:c.1867A>T, NR_159379.1:n.3920A>G, NR_159379.1:n.3920A>T, NM_001366590.1:c.1864A>G, NM_001366590.1:c.1864A>T, NM_001366570.1:c.1861A>G, NM_001366570.1:c.1861A>T, NR_159389.1:n.3914A>G, NR_159389.1:n.3914A>T, NM_001366565.1:c.1828A>G, NM_001366565.1:c.1828A>T, NM_001366572.1:c.1825A>G, NM_001366572.1:c.1825A>T, NM_001366567.1:c.1822A>G, NM_001366567.1:c.1822A>T, NR_159385.1:n.3866A>G, NR_159385.1:n.3866A>T, NM_001366591.1:c.1780A>G, NM_001366591.1:c.1780A>T, NM_001366594.1:c.1777A>G, NM_001366594.1:c.1777A>T, NM_001366586.1:c.1738A>G, NM_001366586.1:c.1738A>T, XM_047427315.1:c.1819A>G, XM_047427315.1:c.1819A>T, XM_047427340.1:c.1774A>G, XM_047427340.1:c.1774A>T, XM_047427357.1:c.1732A>G, XM_047427357.1:c.1732A>T, XM_047427270.1:c.1870A>G, XM_047427270.1:c.1870A>T, XM_047427257.1:c.1870A>G, XM_047427257.1:c.1870A>T, NR_159383.1:n.2313A>G, NR_159383.1:n.2313A>T, NR_159387.1:n.2312A>G, NR_159387.1:n.2312A>T, NM_001366600.1:c.1870A>G, NM_001366600.1:c.1870A>T, NM_001303449.1:c.1996A>G, NM_001303449.1:c.1996A>T, NM_001366597.1:c.2002A>G, NM_001366597.1:c.2002A>T, NM_001366566.1:c.1828A>G, NM_001366566.1:c.1828A>T, NM_001366599.1:c.1822A>G, NM_001366599.1:c.1822A>T, XM_047427027.1:c.1951A>G, XM_047427027.1:c.1951A>T, NR_159390.1:n.2191A>G, NR_159390.1:n.2191A>T, NR_159380.1:n.2182A>G, NR_159380.1:n.2182A>T, NM_001366578.1:c.1777A>G, NM_001366578.1:c.1777A>T, XM_047427056.1:c.1906A>G, XM_047427056.1:c.1906A>T, NM_001366596.1:c.1912A>G, NM_001366596.1:c.1912A>T, NM_001366595.1:c.2119A>G, NM_001366595.1:c.2119A>T, NM_001366569.1:c.2116A>G, NM_001366569.1:c.2116A>T, XM_047427068.1:c.1870A>G, XM_047427068.1:c.1870A>T, NR_159382.1:n.2140A>G, NR_159382.1:n.2140A>T, XM_047427112.1:c.1867A>G, XM_047427112.1:c.1867A>T, NM_001366575.1:c.2110A>G, NM_001366575.1:c.2110A>T, XM_047427126.1:c.1864A>G, XM_047427126.1:c.1864A>T, XM_047427145.1:c.1861A>G, XM_047427145.1:c.1861A>T, NR_159386.1:n.2125A>G, NR_159386.1:n.2125A>T, NM_001366582.1:c.2074A>G, NM_001366582.1:c.2074A>T, NM_001366588.1:c.2071A>G, NM_001366588.1:c.2071A>T, NM_001366589.1:c.2068A>G, NM_001366589.1:c.2068A>T, NR_159384.1:n.2092A>G, NR_159384.1:n.2092A>T, NM_001366577.1:c.2029A>G, NM_001366577.1:c.2029A>T, NM_001366576.1:c.2026A>G, NM_001366576.1:c.2026A>T, NM_001366581.1:c.2023A>G, NM_001366581.1:c.2023A>T, XM_047427154.1:c.2020A>G, XM_047427154.1:c.2020A>T, XM_047427188.1:c.1987A>G, XM_047427188.1:c.1987A>T, XM_047427220.1:c.1984A>G, XM_047427220.1:c.1984A>T, NM_001366592.1:c.1981A>G, NM_001366592.1:c.1981A>T, XM_047427247.1:c.1978A>G, XM_047427247.1:c.1978A>T, NP_005830.2:p.Thr693Ala, NP_005830.2:p.Thr693Ser, XP_016855500.1:p.Thr667Ala, XP_016855500.1:p.Thr667Ser, XP_016855501.1:p.Thr665Ala, XP_016855501.1:p.Thr665Ser, XP_016855502.1:p.Thr654Ala, XP_016855502.1:p.Thr654Ser, XP_016855503.1:p.Thr653Ala, XP_016855503.1:p.Thr653Ser, XP_016855504.1:p.Thr652Ala, XP_016855504.1:p.Thr652Ser, XP_016855506.1:p.Thr637Ala, XP_016855506.1:p.Thr637Ser, NP_001290377.1:p.Thr705Ala, NP_001290377.1:p.Thr705Ser, NP_001353497.1:p.Thr624Ala, NP_001353497.1:p.Thr624Ser, NP_001353514.1:p.Thr623Ala, NP_001353514.1:p.Thr623Ser, NP_001353502.1:p.Thr622Ala, NP_001353502.1:p.Thr622Ser, NP_001353513.1:p.Thr608Ala, NP_001353513.1:p.Thr608Ser, NP_001353516.1:p.Thr594Ala, NP_001353516.1:p.Thr594Ser, NP_001353527.1:p.Thr609Ala, NP_001353527.1:p.Thr609Ser, NP_001353500.1:p.Thr624Ala, NP_001353500.1:p.Thr624Ser, NP_001353522.1:p.Thr623Ala, NP_001353522.1:p.Thr623Ser, NP_001353519.1:p.Thr622Ala, NP_001353519.1:p.Thr622Ser, NP_001353499.1:p.Thr621Ala, NP_001353499.1:p.Thr621Ser, NP_001353494.1:p.Thr610Ala, NP_001353494.1:p.Thr610Ser, NP_001353501.1:p.Thr609Ala, NP_001353501.1:p.Thr609Ser, NP_001353496.1:p.Thr608Ala, NP_001353496.1:p.Thr608Ser, NP_001353520.1:p.Thr594Ala, NP_001353520.1:p.Thr594Ser, NP_001353523.1:p.Thr593Ala, NP_001353523.1:p.Thr593Ser, NP_001353515.1:p.Thr580Ala, NP_001353515.1:p.Thr580Ser, XP_047283271.1:p.Thr607Ala, XP_047283271.1:p.Thr607Ser, XP_047283296.1:p.Thr592Ala, XP_047283296.1:p.Thr592Ser, XP_047283313.1:p.Thr578Ala, XP_047283313.1:p.Thr578Ser, XP_047283226.1:p.Thr624Ala, XP_047283226.1:p.Thr624Ser, XP_047283213.1:p.Thr624Ala, XP_047283213.1:p.Thr624Ser, NP_001353529.1:p.Thr624Ala, NP_001353529.1:p.Thr624Ser, NP_001290378.1:p.Thr666Ala, NP_001290378.1:p.Thr666Ser, NP_001353526.1:p.Thr668Ala, NP_001353526.1:p.Thr668Ser, NP_001353495.1:p.Thr610Ala, NP_001353495.1:p.Thr610Ser, NP_001353528.1:p.Thr608Ala, NP_001353528.1:p.Thr608Ser, XP_047282983.1:p.Thr651Ala, XP_047282983.1:p.Thr651Ser, NP_001353507.1:p.Thr593Ala, NP_001353507.1:p.Thr593Ser, XP_047283012.1:p.Thr636Ala, XP_047283012.1:p.Thr636Ser, NP_001353525.1:p.Thr638Ala, NP_001353525.1:p.Thr638Ser, NP_001353524.1:p.Thr707Ala, NP_001353524.1:p.Thr707Ser, NP_001353498.1:p.Thr706Ala, NP_001353498.1:p.Thr706Ser, XP_047283024.1:p.Thr624Ala, XP_047283024.1:p.Thr624Ser, XP_047283068.1:p.Thr623Ala, XP_047283068.1:p.Thr623Ser, NP_001353504.1:p.Thr704Ala, NP_001353504.1:p.Thr704Ser, XP_047283082.1:p.Thr622Ala, XP_047283082.1:p.Thr622Ser, XP_047283101.1:p.Thr621Ala, XP_047283101.1:p.Thr621Ser, NP_001353511.1:p.Thr692Ala, NP_001353511.1:p.Thr692Ser, NP_001353517.1:p.Thr691Ala, NP_001353517.1:p.Thr691Ser, NP_001353518.1:p.Thr690Ala, NP_001353518.1:p.Thr690Ser, NP_001353506.1:p.Thr677Ala, NP_001353506.1:p.Thr677Ser, NP_001353505.1:p.Thr676Ala, NP_001353505.1:p.Thr676Ser, NP_001353510.1:p.Thr675Ala, NP_001353510.1:p.Thr675Ser, XP_047283110.1:p.Thr674Ala, XP_047283110.1:p.Thr674Ser, XP_047283144.1:p.Thr663Ala, XP_047283144.1:p.Thr663Ser, XP_047283176.1:p.Thr662Ala, XP_047283176.1:p.Thr662Ser, NP_001353521.1:p.Thr661Ala, NP_001353521.1:p.Thr661Ser, XP_047283203.1:p.Thr660Ala, XP_047283203.1:p.Thr660Ser

          5.

          rs1485343689 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TCC>- [Show Flanks]
            Chromosome:
            1:24669135 (GRCh38)
            1:24995626 (GRCh37)
            Canonical SPDI:
            NC_000001.11:24669130:CTCCTCC:CTCC
            Gene:
            SRRM1 (Varview)
            Functional Consequence:
            inframe_deletion,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTCC=0./0 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            -=0.000014/2 (GnomAD)
            -=0.000015/4 (TOPMED)
            HGVS:
            NC_000001.11:g.24669132TCC[1], NC_000001.10:g.24995623TCC[1], NM_005839.4:c.1749TCC[1], NM_005839.3:c.1749TCC[1], XM_017000011.2:c.1671TCC[1], XM_017000011.1:c.1671TCC[1], XM_017000012.2:c.1665TCC[1], XM_017000012.1:c.1665TCC[1], XM_017000013.2:c.1632TCC[1], XM_017000013.1:c.1632TCC[1], XM_017000014.2:c.1629TCC[1], XM_017000014.1:c.1629TCC[1], XM_017000015.2:c.1626TCC[1], XM_017000015.1:c.1626TCC[1], XM_017000017.2:c.1581TCC[1], XM_017000017.1:c.1581TCC[1], NM_001303448.2:c.1785TCC[1], NM_001303448.1:c.1785TCC[1], NR_159378.1:n.3923TCC[1], NM_001366568.1:c.1542TCC[1], NM_001366585.1:c.1539TCC[1], NM_001366573.1:c.1536TCC[1], NM_001366584.1:c.1494TCC[1], NM_001366587.1:c.1452TCC[1], NM_001366598.1:c.1497TCC[1], NR_159391.1:n.3634TCC[1], NR_159388.1:n.3629TCC[1], NM_001366571.1:c.1542TCC[1], NM_001366593.1:c.1539TCC[1], NR_159379.1:n.3592TCC[1], NM_001366590.1:c.1536TCC[1], NM_001366570.1:c.1533TCC[1], NR_159389.1:n.3586TCC[1], NM_001366565.1:c.1500TCC[1], NM_001366572.1:c.1497TCC[1], NM_001366567.1:c.1494TCC[1], NR_159385.1:n.3538TCC[1], NM_001366591.1:c.1452TCC[1], NM_001366594.1:c.1449TCC[1], NM_001366586.1:c.1410TCC[1], XM_047427315.1:c.1491TCC[1], XM_047427340.1:c.1446TCC[1], XM_047427357.1:c.1404TCC[1], XM_047427270.1:c.1542TCC[1], XM_047427257.1:c.1542TCC[1], NR_159383.1:n.1985TCC[1], NR_159387.1:n.1984TCC[1], NM_001366600.1:c.1542TCC[1], NM_001303449.1:c.1668TCC[1], NM_001366597.1:c.1674TCC[1], NM_001366566.1:c.1500TCC[1], NM_001366599.1:c.1494TCC[1], XM_047427027.1:c.1623TCC[1], NR_159390.1:n.1863TCC[1], NR_159380.1:n.1854TCC[1], NM_001366578.1:c.1449TCC[1], XM_047427056.1:c.1578TCC[1], NM_001366596.1:c.1584TCC[1], NM_001366595.1:c.1791TCC[1], NM_001366569.1:c.1788TCC[1], XM_047427068.1:c.1542TCC[1], NR_159382.1:n.1812TCC[1], XM_047427112.1:c.1539TCC[1], NM_001366575.1:c.1782TCC[1], XM_047427126.1:c.1536TCC[1], XM_047427145.1:c.1533TCC[1], NR_159386.1:n.1797TCC[1], NM_001366582.1:c.1746TCC[1], NM_001366588.1:c.1743TCC[1], NM_001366589.1:c.1740TCC[1], NR_159384.1:n.1764TCC[1], NM_001366577.1:c.1701TCC[1], NM_001366576.1:c.1698TCC[1], NM_001366581.1:c.1695TCC[1], XM_047427154.1:c.1692TCC[1], XM_047427188.1:c.1659TCC[1], XM_047427220.1:c.1656TCC[1], NM_001366592.1:c.1653TCC[1], XM_047427247.1:c.1650TCC[1], NP_005830.2:p.Pro586del, XP_016855500.1:p.Pro560del, XP_016855501.1:p.Pro558del, XP_016855502.1:p.Pro547del, XP_016855503.1:p.Pro546del, XP_016855504.1:p.Pro545del, XP_016855506.1:p.Pro530del, NP_001290377.1:p.Pro598del, NP_001353497.1:p.Pro517del, NP_001353514.1:p.Pro516del, NP_001353502.1:p.Pro515del, NP_001353513.1:p.Pro501del, NP_001353516.1:p.Pro487del, NP_001353527.1:p.Pro502del, NP_001353500.1:p.Pro517del, NP_001353522.1:p.Pro516del, NP_001353519.1:p.Pro515del, NP_001353499.1:p.Pro514del, NP_001353494.1:p.Pro503del, NP_001353501.1:p.Pro502del, NP_001353496.1:p.Pro501del, NP_001353520.1:p.Pro487del, NP_001353523.1:p.Pro486del, NP_001353515.1:p.Pro473del, XP_047283271.1:p.Pro500del, XP_047283296.1:p.Pro485del, XP_047283313.1:p.Pro471del, XP_047283226.1:p.Pro517del, XP_047283213.1:p.Pro517del, NP_001353529.1:p.Pro517del, NP_001290378.1:p.Pro559del, NP_001353526.1:p.Pro561del, NP_001353495.1:p.Pro503del, NP_001353528.1:p.Pro501del, XP_047282983.1:p.Pro544del, NP_001353507.1:p.Pro486del, XP_047283012.1:p.Pro529del, NP_001353525.1:p.Pro531del, NP_001353524.1:p.Pro600del, NP_001353498.1:p.Pro599del, XP_047283024.1:p.Pro517del, XP_047283068.1:p.Pro516del, NP_001353504.1:p.Pro597del, XP_047283082.1:p.Pro515del, XP_047283101.1:p.Pro514del, NP_001353511.1:p.Pro585del, NP_001353517.1:p.Pro584del, NP_001353518.1:p.Pro583del, NP_001353506.1:p.Pro570del, NP_001353505.1:p.Pro569del, NP_001353510.1:p.Pro568del, XP_047283110.1:p.Pro567del, XP_047283144.1:p.Pro556del, XP_047283176.1:p.Pro555del, NP_001353521.1:p.Pro554del, XP_047283203.1:p.Pro553del

            6.

            rs1485016855 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:24669390 (GRCh38)
              1:24995881 (GRCh37)
              Canonical SPDI:
              NC_000001.11:24669389:T:C
              Gene:
              SRRM1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.24669390T>C, NC_000001.10:g.24995881T>C, NM_005839.4:c.2007T>C, NM_005839.3:c.2007T>C, XM_017000011.2:c.1929T>C, XM_017000011.1:c.1929T>C, XM_017000012.2:c.1923T>C, XM_017000012.1:c.1923T>C, XM_017000013.2:c.1890T>C, XM_017000013.1:c.1890T>C, XM_017000014.2:c.1887T>C, XM_017000014.1:c.1887T>C, XM_017000015.2:c.1884T>C, XM_017000015.1:c.1884T>C, XM_017000017.2:c.1839T>C, XM_017000017.1:c.1839T>C, NM_001303448.2:c.2043T>C, NM_001303448.1:c.2043T>C, NR_159378.1:n.4181T>C, NM_001366568.1:c.1800T>C, NM_001366585.1:c.1797T>C, NM_001366573.1:c.1794T>C, NM_001366584.1:c.1752T>C, NM_001366587.1:c.1710T>C, NM_001366598.1:c.1755T>C, NR_159391.1:n.3892T>C, NR_159388.1:n.3887T>C, NM_001366571.1:c.1800T>C, NM_001366593.1:c.1797T>C, NR_159379.1:n.3850T>C, NM_001366590.1:c.1794T>C, NM_001366570.1:c.1791T>C, NR_159389.1:n.3844T>C, NM_001366565.1:c.1758T>C, NM_001366572.1:c.1755T>C, NM_001366567.1:c.1752T>C, NR_159385.1:n.3796T>C, NM_001366591.1:c.1710T>C, NM_001366594.1:c.1707T>C, NM_001366586.1:c.1668T>C, XM_047427315.1:c.1749T>C, XM_047427340.1:c.1704T>C, XM_047427357.1:c.1662T>C, XM_047427270.1:c.1800T>C, XM_047427257.1:c.1800T>C, NR_159383.1:n.2243T>C, NR_159387.1:n.2242T>C, NM_001366600.1:c.1800T>C, NM_001303449.1:c.1926T>C, NM_001366597.1:c.1932T>C, NM_001366566.1:c.1758T>C, NM_001366599.1:c.1752T>C, XM_047427027.1:c.1881T>C, NR_159390.1:n.2121T>C, NR_159380.1:n.2112T>C, NM_001366578.1:c.1707T>C, XM_047427056.1:c.1836T>C, NM_001366596.1:c.1842T>C, NM_001366595.1:c.2049T>C, NM_001366569.1:c.2046T>C, XM_047427068.1:c.1800T>C, NR_159382.1:n.2070T>C, XM_047427112.1:c.1797T>C, NM_001366575.1:c.2040T>C, XM_047427126.1:c.1794T>C, XM_047427145.1:c.1791T>C, NR_159386.1:n.2055T>C, NM_001366582.1:c.2004T>C, NM_001366588.1:c.2001T>C, NM_001366589.1:c.1998T>C, NR_159384.1:n.2022T>C, NM_001366577.1:c.1959T>C, NM_001366576.1:c.1956T>C, NM_001366581.1:c.1953T>C, XM_047427154.1:c.1950T>C, XM_047427188.1:c.1917T>C, XM_047427220.1:c.1914T>C, NM_001366592.1:c.1911T>C, XM_047427247.1:c.1908T>C

              7.

              rs1484784974 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:24669198 (GRCh38)
                1:24995689 (GRCh37)
                Canonical SPDI:
                NC_000001.11:24669197:T:C
                Gene:
                SRRM1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000111/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.24669198T>C, NC_000001.10:g.24995689T>C, NM_005839.4:c.1815T>C, NM_005839.3:c.1815T>C, XM_017000011.2:c.1737T>C, XM_017000011.1:c.1737T>C, XM_017000012.2:c.1731T>C, XM_017000012.1:c.1731T>C, XM_017000013.2:c.1698T>C, XM_017000013.1:c.1698T>C, XM_017000014.2:c.1695T>C, XM_017000014.1:c.1695T>C, XM_017000015.2:c.1692T>C, XM_017000015.1:c.1692T>C, XM_017000017.2:c.1647T>C, XM_017000017.1:c.1647T>C, NM_001303448.2:c.1851T>C, NM_001303448.1:c.1851T>C, NR_159378.1:n.3989T>C, NM_001366568.1:c.1608T>C, NM_001366585.1:c.1605T>C, NM_001366573.1:c.1602T>C, NM_001366584.1:c.1560T>C, NM_001366587.1:c.1518T>C, NM_001366598.1:c.1563T>C, NR_159391.1:n.3700T>C, NR_159388.1:n.3695T>C, NM_001366571.1:c.1608T>C, NM_001366593.1:c.1605T>C, NR_159379.1:n.3658T>C, NM_001366590.1:c.1602T>C, NM_001366570.1:c.1599T>C, NR_159389.1:n.3652T>C, NM_001366565.1:c.1566T>C, NM_001366572.1:c.1563T>C, NM_001366567.1:c.1560T>C, NR_159385.1:n.3604T>C, NM_001366591.1:c.1518T>C, NM_001366594.1:c.1515T>C, NM_001366586.1:c.1476T>C, XM_047427315.1:c.1557T>C, XM_047427340.1:c.1512T>C, XM_047427357.1:c.1470T>C, XM_047427270.1:c.1608T>C, XM_047427257.1:c.1608T>C, NR_159383.1:n.2051T>C, NR_159387.1:n.2050T>C, NM_001366600.1:c.1608T>C, NM_001303449.1:c.1734T>C, NM_001366597.1:c.1740T>C, NM_001366566.1:c.1566T>C, NM_001366599.1:c.1560T>C, XM_047427027.1:c.1689T>C, NR_159390.1:n.1929T>C, NR_159380.1:n.1920T>C, NM_001366578.1:c.1515T>C, XM_047427056.1:c.1644T>C, NM_001366596.1:c.1650T>C, NM_001366595.1:c.1857T>C, NM_001366569.1:c.1854T>C, XM_047427068.1:c.1608T>C, NR_159382.1:n.1878T>C, XM_047427112.1:c.1605T>C, NM_001366575.1:c.1848T>C, XM_047427126.1:c.1602T>C, XM_047427145.1:c.1599T>C, NR_159386.1:n.1863T>C, NM_001366582.1:c.1812T>C, NM_001366588.1:c.1809T>C, NM_001366589.1:c.1806T>C, NR_159384.1:n.1830T>C, NM_001366577.1:c.1767T>C, NM_001366576.1:c.1764T>C, NM_001366581.1:c.1761T>C, XM_047427154.1:c.1758T>C, XM_047427188.1:c.1725T>C, XM_047427220.1:c.1722T>C, NM_001366592.1:c.1719T>C, XM_047427247.1:c.1716T>C

                8.

                rs1484365329 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:24671530 (GRCh38)
                  1:24998021 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:24671529:G:A
                  Gene:
                  SRRM1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.24671530G>A, NC_000001.10:g.24998021G>A, NM_005839.4:c.2545G>A, NM_005839.3:c.2545G>A, XM_017000011.2:c.2467G>A, XM_017000011.1:c.2467G>A, XM_017000012.2:c.2461G>A, XM_017000012.1:c.2461G>A, XM_017000013.2:c.2428G>A, XM_017000013.1:c.2428G>A, XM_017000014.2:c.2425G>A, XM_017000014.1:c.2425G>A, XM_017000015.2:c.2422G>A, XM_017000015.1:c.2422G>A, XM_017000017.2:c.2377G>A, XM_017000017.1:c.2377G>A, NM_001303448.2:c.2581G>A, NM_001303448.1:c.2581G>A, NR_159378.1:n.4719G>A, NM_001366568.1:c.2338G>A, NM_001366585.1:c.2335G>A, NM_001366573.1:c.2332G>A, NM_001366584.1:c.2290G>A, NM_001366587.1:c.2248G>A, NM_001366598.1:c.2293G>A, NR_159391.1:n.4430G>A, NR_159388.1:n.4425G>A, NM_001366571.1:c.2338G>A, NM_001366593.1:c.2335G>A, NR_159379.1:n.4388G>A, NM_001366590.1:c.2332G>A, NM_001366570.1:c.2329G>A, NR_159389.1:n.4382G>A, NM_001366565.1:c.2296G>A, NM_001366572.1:c.2293G>A, NM_001366567.1:c.2290G>A, NR_159385.1:n.4334G>A, NM_001366591.1:c.2248G>A, NM_001366594.1:c.2245G>A, NM_001366586.1:c.2206G>A, XM_047427315.1:c.2287G>A, XM_047427340.1:c.2242G>A, XM_047427357.1:c.2200G>A, XM_047427270.1:c.2338G>A, XM_047427257.1:c.2338G>A, NR_159383.1:n.2781G>A, NR_159387.1:n.2780G>A, NM_001366600.1:c.2338G>A, NM_001303449.1:c.2464G>A, NM_001366597.1:c.2470G>A, NM_001366566.1:c.2296G>A, NM_001366599.1:c.2290G>A, XM_047427027.1:c.2419G>A, NR_159390.1:n.2659G>A, NR_159380.1:n.2650G>A, NM_001366578.1:c.2245G>A, XM_047427056.1:c.2374G>A, NM_001366596.1:c.2380G>A, NM_001366595.1:c.2587G>A, NM_001366569.1:c.2584G>A, XM_047427068.1:c.2338G>A, NR_159382.1:n.2608G>A, XM_047427112.1:c.2335G>A, NM_001366575.1:c.2578G>A, XM_047427126.1:c.2332G>A, XM_047427145.1:c.2329G>A, NR_159386.1:n.2593G>A, NM_001366582.1:c.2542G>A, NM_001366588.1:c.2539G>A, NM_001366589.1:c.2536G>A, NR_159384.1:n.2560G>A, NM_001366577.1:c.2497G>A, NM_001366576.1:c.2494G>A, NM_001366581.1:c.2491G>A, XM_047427154.1:c.2488G>A, XM_047427188.1:c.2455G>A, XM_047427220.1:c.2452G>A, NM_001366592.1:c.2449G>A, XM_047427247.1:c.2446G>A, NP_005830.2:p.Ala849Thr, XP_016855500.1:p.Ala823Thr, XP_016855501.1:p.Ala821Thr, XP_016855502.1:p.Ala810Thr, XP_016855503.1:p.Ala809Thr, XP_016855504.1:p.Ala808Thr, XP_016855506.1:p.Ala793Thr, NP_001290377.1:p.Ala861Thr, NP_001353497.1:p.Ala780Thr, NP_001353514.1:p.Ala779Thr, NP_001353502.1:p.Ala778Thr, NP_001353513.1:p.Ala764Thr, NP_001353516.1:p.Ala750Thr, NP_001353527.1:p.Ala765Thr, NP_001353500.1:p.Ala780Thr, NP_001353522.1:p.Ala779Thr, NP_001353519.1:p.Ala778Thr, NP_001353499.1:p.Ala777Thr, NP_001353494.1:p.Ala766Thr, NP_001353501.1:p.Ala765Thr, NP_001353496.1:p.Ala764Thr, NP_001353520.1:p.Ala750Thr, NP_001353523.1:p.Ala749Thr, NP_001353515.1:p.Ala736Thr, XP_047283271.1:p.Ala763Thr, XP_047283296.1:p.Ala748Thr, XP_047283313.1:p.Ala734Thr, XP_047283226.1:p.Ala780Thr, XP_047283213.1:p.Ala780Thr, NP_001353529.1:p.Ala780Thr, NP_001290378.1:p.Ala822Thr, NP_001353526.1:p.Ala824Thr, NP_001353495.1:p.Ala766Thr, NP_001353528.1:p.Ala764Thr, XP_047282983.1:p.Ala807Thr, NP_001353507.1:p.Ala749Thr, XP_047283012.1:p.Ala792Thr, NP_001353525.1:p.Ala794Thr, NP_001353524.1:p.Ala863Thr, NP_001353498.1:p.Ala862Thr, XP_047283024.1:p.Ala780Thr, XP_047283068.1:p.Ala779Thr, NP_001353504.1:p.Ala860Thr, XP_047283082.1:p.Ala778Thr, XP_047283101.1:p.Ala777Thr, NP_001353511.1:p.Ala848Thr, NP_001353517.1:p.Ala847Thr, NP_001353518.1:p.Ala846Thr, NP_001353506.1:p.Ala833Thr, NP_001353505.1:p.Ala832Thr, NP_001353510.1:p.Ala831Thr, XP_047283110.1:p.Ala830Thr, XP_047283144.1:p.Ala819Thr, XP_047283176.1:p.Ala818Thr, NP_001353521.1:p.Ala817Thr, XP_047283203.1:p.Ala816Thr

                  9.

                  rs1481872133 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:24654925 (GRCh38)
                    1:24981416 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:24654924:C:T
                    Gene:
                    SRRM1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.24654925C>T, NC_000001.10:g.24981416C>T, NM_005839.4:c.1111C>T, NM_005839.3:c.1111C>T, XM_017000011.2:c.994C>T, XM_017000011.1:c.994C>T, XM_017000012.2:c.994C>T, XM_017000012.1:c.994C>T, XM_017000013.2:c.994C>T, XM_017000013.1:c.994C>T, XM_017000014.2:c.994C>T, XM_017000014.1:c.994C>T, XM_017000015.2:c.994C>T, XM_017000015.1:c.994C>T, XM_017000017.2:c.904C>T, XM_017000017.1:c.904C>T, NM_001303448.2:c.1111C>T, NM_001303448.1:c.1111C>T, XM_017000034.2:c.942C>T, XM_017000034.1:c.942C>T, NR_159378.1:n.3243C>T, NM_001366568.1:c.862C>T, NM_001366585.1:c.862C>T, NM_001366573.1:c.862C>T, NM_001366584.1:c.862C>T, NM_001366587.1:c.772C>T, NM_001366598.1:c.862C>T, NR_159391.1:n.2954C>T, NR_159388.1:n.2916C>T, NM_001366571.1:c.862C>T, NM_001366593.1:c.862C>T, NR_159379.1:n.2954C>T, NM_001366590.1:c.862C>T, NM_001366570.1:c.862C>T, NR_159389.1:n.2954C>T, NM_001366565.1:c.862C>T, NM_001366572.1:c.862C>T, NM_001366567.1:c.862C>T, NR_159385.1:n.2864C>T, NM_001366591.1:c.772C>T, NM_001366594.1:c.772C>T, NM_001366586.1:c.772C>T, XM_047427315.1:c.862C>T, XM_047427340.1:c.772C>T, XM_047427357.1:c.772C>T, XM_047427270.1:c.862C>T, XM_047427257.1:c.862C>T, NR_159383.1:n.1266C>T, NR_159387.1:n.1304C>T, NM_001366600.1:c.862C>T, NM_001303449.1:c.994C>T, NM_001366597.1:c.994C>T, NM_001366566.1:c.862C>T, NM_001366599.1:c.862C>T, XM_047427027.1:c.994C>T, NR_159390.1:n.1192C>T, NR_159380.1:n.1174C>T, NM_001366578.1:c.772C>T, XM_047427056.1:c.904C>T, NM_001366596.1:c.904C>T, NM_001366595.1:c.1111C>T, NM_001366569.1:c.1111C>T, XM_047427068.1:c.904C>T, NR_159382.1:n.1174C>T, XM_047427112.1:c.904C>T, NM_001366575.1:c.1111C>T, XM_047427126.1:c.904C>T, XM_047427145.1:c.904C>T, NR_159386.1:n.1084C>T, NM_001366582.1:c.1111C>T, NM_001366588.1:c.1111C>T, NM_001366589.1:c.1111C>T, NR_159384.1:n.1084C>T, NM_001366577.1:c.1021C>T, NM_001366576.1:c.1021C>T, NM_001366581.1:c.1021C>T, XM_047427154.1:c.1021C>T, XM_047427188.1:c.1021C>T, XM_047427220.1:c.1021C>T, NM_001366592.1:c.1021C>T, XM_047427247.1:c.1021C>T, XR_007062492.1:n.1174C>T, XM_047427394.1:c.1149C>T, XM_047427397.1:c.1149C>T, NP_005830.2:p.Pro371Ser, XP_016855500.1:p.Pro332Ser, XP_016855501.1:p.Pro332Ser, XP_016855502.1:p.Pro332Ser, XP_016855503.1:p.Pro332Ser, XP_016855504.1:p.Pro332Ser, XP_016855506.1:p.Pro302Ser, NP_001290377.1:p.Pro371Ser, NP_001353497.1:p.Pro288Ser, NP_001353514.1:p.Pro288Ser, NP_001353502.1:p.Pro288Ser, NP_001353513.1:p.Pro288Ser, NP_001353516.1:p.Pro258Ser, NP_001353527.1:p.Pro288Ser, NP_001353500.1:p.Pro288Ser, NP_001353522.1:p.Pro288Ser, NP_001353519.1:p.Pro288Ser, NP_001353499.1:p.Pro288Ser, NP_001353494.1:p.Pro288Ser, NP_001353501.1:p.Pro288Ser, NP_001353496.1:p.Pro288Ser, NP_001353520.1:p.Pro258Ser, NP_001353523.1:p.Pro258Ser, NP_001353515.1:p.Pro258Ser, XP_047283271.1:p.Pro288Ser, XP_047283296.1:p.Pro258Ser, XP_047283313.1:p.Pro258Ser, XP_047283226.1:p.Pro288Ser, XP_047283213.1:p.Pro288Ser, NP_001353529.1:p.Pro288Ser, NP_001290378.1:p.Pro332Ser, NP_001353526.1:p.Pro332Ser, NP_001353495.1:p.Pro288Ser, NP_001353528.1:p.Pro288Ser, XP_047282983.1:p.Pro332Ser, NP_001353507.1:p.Pro258Ser, XP_047283012.1:p.Pro302Ser, NP_001353525.1:p.Pro302Ser, NP_001353524.1:p.Pro371Ser, NP_001353498.1:p.Pro371Ser, XP_047283024.1:p.Pro302Ser, XP_047283068.1:p.Pro302Ser, NP_001353504.1:p.Pro371Ser, XP_047283082.1:p.Pro302Ser, XP_047283101.1:p.Pro302Ser, NP_001353511.1:p.Pro371Ser, NP_001353517.1:p.Pro371Ser, NP_001353518.1:p.Pro371Ser, NP_001353506.1:p.Pro341Ser, NP_001353505.1:p.Pro341Ser, NP_001353510.1:p.Pro341Ser, XP_047283110.1:p.Pro341Ser, XP_047283144.1:p.Pro341Ser, XP_047283176.1:p.Pro341Ser, NP_001353521.1:p.Pro341Ser, XP_047283203.1:p.Pro341Ser

                    10.

                    rs1479380454 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:24646040 (GRCh38)
                      1:24972531 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:24646039:G:A
                      Gene:
                      SRRM1 (Varview)
                      Functional Consequence:
                      synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      A=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.24646040G>A, NC_000001.10:g.24972531G>A, NM_005839.4:c.78G>A, NM_005839.3:c.78G>A, XM_017000011.2:c.-40G>A, XM_017000011.1:c.-40G>A, XM_017000012.2:c.-40G>A, XM_017000012.1:c.-40G>A, XM_017000013.2:c.-40G>A, XM_017000013.1:c.-40G>A, XM_017000014.2:c.-40G>A, XM_017000014.1:c.-40G>A, XM_017000015.2:c.-40G>A, XM_017000015.1:c.-40G>A, XM_017000017.2:c.-40G>A, XM_017000017.1:c.-40G>A, NM_001303448.2:c.78G>A, NM_001303448.1:c.78G>A, XM_017000034.2:c.-40G>A, XM_017000034.1:c.-40G>A, NR_159378.1:n.103G>A, NM_001366568.1:c.-2241G>A, NM_001366585.1:c.-2241G>A, NM_001366573.1:c.-2241G>A, NM_001366584.1:c.-2241G>A, NM_001366587.1:c.-2241G>A, NM_001366598.1:c.-1952G>A, NR_159391.1:n.103G>A, NR_159388.1:n.103G>A, NM_001366571.1:c.-1952G>A, NM_001366593.1:c.-1952G>A, NR_159379.1:n.103G>A, NM_001366590.1:c.-1952G>A, NM_001366570.1:c.-1952G>A, NR_159389.1:n.103G>A, NM_001366565.1:c.-1952G>A, NM_001366572.1:c.-1952G>A, NM_001366567.1:c.-1952G>A, NR_159385.1:n.103G>A, NM_001366591.1:c.-1952G>A, NM_001366594.1:c.-1952G>A, NM_001366586.1:c.-1952G>A, NR_159383.1:n.103G>A, NR_159387.1:n.103G>A, NM_001366600.1:c.-302G>A, NM_001303449.1:c.-40G>A, NM_001366597.1:c.-40G>A, NM_001366566.1:c.-302G>A, NM_001366599.1:c.-302G>A, XM_047427027.1:c.-40G>A, NR_159390.1:n.211G>A, NR_159380.1:n.103G>A, NM_001366578.1:c.-302G>A, XM_047427056.1:c.-40G>A, NM_001366596.1:c.-40G>A, NM_001366595.1:c.78G>A, NM_001366569.1:c.78G>A, XM_047427068.1:c.-40G>A, NR_159382.1:n.103G>A, XM_047427112.1:c.-40G>A, NM_001366575.1:c.78G>A, XM_047427126.1:c.-40G>A, XM_047427145.1:c.-40G>A, NR_159386.1:n.103G>A, NM_001366582.1:c.78G>A, NM_001366588.1:c.78G>A, NM_001366589.1:c.78G>A, NR_159384.1:n.103G>A, NM_001366577.1:c.78G>A, NM_001366576.1:c.78G>A, NM_001366581.1:c.78G>A, XM_047427154.1:c.78G>A, XM_047427188.1:c.78G>A, XM_047427220.1:c.78G>A, NM_001366592.1:c.78G>A, XM_047427247.1:c.78G>A, XR_007062492.1:n.103G>A, XM_047427394.1:c.78G>A, XM_047427397.1:c.78G>A

                      11.

                      rs1479001846 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GAG>- [Show Flanks]
                        Chromosome:
                        1:24669549 (GRCh38)
                        1:24996040 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:24669546:AGGAG:AG
                        Gene:
                        SRRM1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.24669549_24669551del, NC_000001.10:g.24996040_24996042del, NM_005839.4:c.2166_2168del, NM_005839.3:c.2166_2168del, XM_017000011.2:c.2088_2090del, XM_017000011.1:c.2088_2090del, XM_017000012.2:c.2082_2084del, XM_017000012.1:c.2082_2084del, XM_017000013.2:c.2049_2051del, XM_017000013.1:c.2049_2051del, XM_017000014.2:c.2046_2048del, XM_017000014.1:c.2046_2048del, XM_017000015.2:c.2043_2045del, XM_017000015.1:c.2043_2045del, XM_017000017.2:c.1998_2000del, XM_017000017.1:c.1998_2000del, NM_001303448.2:c.2202_2204del, NM_001303448.1:c.2202_2204del, NR_159378.1:n.4340_4342del, NM_001366568.1:c.1959_1961del, NM_001366585.1:c.1956_1958del, NM_001366573.1:c.1953_1955del, NM_001366584.1:c.1911_1913del, NM_001366587.1:c.1869_1871del, NM_001366598.1:c.1914_1916del, NR_159391.1:n.4051_4053del, NR_159388.1:n.4046_4048del, NM_001366571.1:c.1959_1961del, NM_001366593.1:c.1956_1958del, NR_159379.1:n.4009_4011del, NM_001366590.1:c.1953_1955del, NM_001366570.1:c.1950_1952del, NR_159389.1:n.4003_4005del, NM_001366565.1:c.1917_1919del, NM_001366572.1:c.1914_1916del, NM_001366567.1:c.1911_1913del, NR_159385.1:n.3955_3957del, NM_001366591.1:c.1869_1871del, NM_001366594.1:c.1866_1868del, NM_001366586.1:c.1827_1829del, XM_047427315.1:c.1908_1910del, XM_047427340.1:c.1863_1865del, XM_047427357.1:c.1821_1823del, XM_047427270.1:c.1959_1961del, XM_047427257.1:c.1959_1961del, NR_159383.1:n.2402_2404del, NR_159387.1:n.2401_2403del, NM_001366600.1:c.1959_1961del, NM_001303449.1:c.2085_2087del, NM_001366597.1:c.2091_2093del, NM_001366566.1:c.1917_1919del, NM_001366599.1:c.1911_1913del, XM_047427027.1:c.2040_2042del, NR_159390.1:n.2280_2282del, NR_159380.1:n.2271_2273del, NM_001366578.1:c.1866_1868del, XM_047427056.1:c.1995_1997del, NM_001366596.1:c.2001_2003del, NM_001366595.1:c.2208_2210del, NM_001366569.1:c.2205_2207del, XM_047427068.1:c.1959_1961del, NR_159382.1:n.2229_2231del, XM_047427112.1:c.1956_1958del, NM_001366575.1:c.2199_2201del, XM_047427126.1:c.1953_1955del, XM_047427145.1:c.1950_1952del, NR_159386.1:n.2214_2216del, NM_001366582.1:c.2163_2165del, NM_001366588.1:c.2160_2162del, NM_001366589.1:c.2157_2159del, NR_159384.1:n.2181_2183del, NM_001366577.1:c.2118_2120del, NM_001366576.1:c.2115_2117del, NM_001366581.1:c.2112_2114del, XM_047427154.1:c.2109_2111del, XM_047427188.1:c.2076_2078del, XM_047427220.1:c.2073_2075del, NM_001366592.1:c.2070_2072del, XM_047427247.1:c.2067_2069del, NP_005830.2:p.Arg723del, XP_016855500.1:p.Arg697del, XP_016855501.1:p.Arg695del, XP_016855502.1:p.Arg684del, XP_016855503.1:p.Arg683del, XP_016855504.1:p.Arg682del, XP_016855506.1:p.Arg667del, NP_001290377.1:p.Arg735del, NP_001353497.1:p.Arg654del, NP_001353514.1:p.Arg653del, NP_001353502.1:p.Arg652del, NP_001353513.1:p.Arg638del, NP_001353516.1:p.Arg624del, NP_001353527.1:p.Arg639del, NP_001353500.1:p.Arg654del, NP_001353522.1:p.Arg653del, NP_001353519.1:p.Arg652del, NP_001353499.1:p.Arg651del, NP_001353494.1:p.Arg640del, NP_001353501.1:p.Arg639del, NP_001353496.1:p.Arg638del, NP_001353520.1:p.Arg624del, NP_001353523.1:p.Arg623del, NP_001353515.1:p.Arg610del, XP_047283271.1:p.Arg637del, XP_047283296.1:p.Arg622del, XP_047283313.1:p.Arg608del, XP_047283226.1:p.Arg654del, XP_047283213.1:p.Arg654del, NP_001353529.1:p.Arg654del, NP_001290378.1:p.Arg696del, NP_001353526.1:p.Arg698del, NP_001353495.1:p.Arg640del, NP_001353528.1:p.Arg638del, XP_047282983.1:p.Arg681del, NP_001353507.1:p.Arg623del, XP_047283012.1:p.Arg666del, NP_001353525.1:p.Arg668del, NP_001353524.1:p.Arg737del, NP_001353498.1:p.Arg736del, XP_047283024.1:p.Arg654del, XP_047283068.1:p.Arg653del, NP_001353504.1:p.Arg734del, XP_047283082.1:p.Arg652del, XP_047283101.1:p.Arg651del, NP_001353511.1:p.Arg722del, NP_001353517.1:p.Arg721del, NP_001353518.1:p.Arg720del, NP_001353506.1:p.Arg707del, NP_001353505.1:p.Arg706del, NP_001353510.1:p.Arg705del, XP_047283110.1:p.Arg704del, XP_047283144.1:p.Arg693del, XP_047283176.1:p.Arg692del, NP_001353521.1:p.Arg691del, XP_047283203.1:p.Arg690del

                        12.

                        rs1477922938 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:24652934 (GRCh38)
                          1:24979425 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:24652933:G:A
                          Gene:
                          SRRM1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.24652934G>A, NC_000001.10:g.24979425G>A, NM_005839.4:c.942G>A, NM_005839.3:c.942G>A, XM_017000011.2:c.825G>A, XM_017000011.1:c.825G>A, XM_017000012.2:c.825G>A, XM_017000012.1:c.825G>A, XM_017000013.2:c.825G>A, XM_017000013.1:c.825G>A, XM_017000014.2:c.825G>A, XM_017000014.1:c.825G>A, XM_017000015.2:c.825G>A, XM_017000015.1:c.825G>A, XM_017000017.2:c.735G>A, XM_017000017.1:c.735G>A, NM_001303448.2:c.942G>A, NM_001303448.1:c.942G>A, XM_017000034.2:c.735G>A, XM_017000034.1:c.735G>A, NR_159378.1:n.3036G>A, NM_001366568.1:c.693G>A, NM_001366585.1:c.693G>A, NM_001366573.1:c.693G>A, NM_001366584.1:c.693G>A, NM_001366587.1:c.603G>A, NM_001366598.1:c.693G>A, NR_159391.1:n.2747G>A, NR_159388.1:n.2747G>A, NM_001366571.1:c.693G>A, NM_001366593.1:c.693G>A, NR_159379.1:n.2747G>A, NM_001366590.1:c.693G>A, NM_001366570.1:c.693G>A, NR_159389.1:n.2747G>A, NM_001366565.1:c.693G>A, NM_001366572.1:c.693G>A, NM_001366567.1:c.693G>A, NR_159385.1:n.2657G>A, NM_001366591.1:c.603G>A, NM_001366594.1:c.603G>A, NM_001366586.1:c.603G>A, XM_047427315.1:c.693G>A, XM_047427340.1:c.603G>A, XM_047427357.1:c.603G>A, XM_047427270.1:c.693G>A, XM_047427257.1:c.693G>A, NR_159383.1:n.1097G>A, NR_159387.1:n.1097G>A, NM_001366600.1:c.693G>A, NM_001303449.1:c.825G>A, NM_001366597.1:c.825G>A, NM_001366566.1:c.693G>A, NM_001366599.1:c.693G>A, XM_047427027.1:c.825G>A, NR_159390.1:n.985G>A, NR_159380.1:n.967G>A, NM_001366578.1:c.603G>A, XM_047427056.1:c.735G>A, NM_001366596.1:c.735G>A, NM_001366595.1:c.942G>A, NM_001366569.1:c.942G>A, XM_047427068.1:c.735G>A, NR_159382.1:n.967G>A, XM_047427112.1:c.735G>A, NM_001366575.1:c.942G>A, XM_047427126.1:c.735G>A, XM_047427145.1:c.735G>A, NR_159386.1:n.877G>A, NM_001366582.1:c.942G>A, NM_001366588.1:c.942G>A, NM_001366589.1:c.942G>A, NR_159384.1:n.877G>A, NM_001366577.1:c.852G>A, NM_001366576.1:c.852G>A, NM_001366581.1:c.852G>A, XM_047427154.1:c.852G>A, XM_047427188.1:c.852G>A, XM_047427220.1:c.852G>A, NM_001366592.1:c.852G>A, XM_047427247.1:c.852G>A, XR_007062492.1:n.967G>A, XM_047427394.1:c.942G>A, XM_047427397.1:c.942G>A

                          13.

                          rs1475524918 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            1:24670200 (GRCh38)
                            1:24996691 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:24670199:A:C
                            Gene:
                            SRRM1 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.24670200A>C, NC_000001.10:g.24996691A>C, NM_005839.4:c.2285A>C, NM_005839.3:c.2285A>C, XM_017000011.2:c.2207A>C, XM_017000011.1:c.2207A>C, XM_017000012.2:c.2201A>C, XM_017000012.1:c.2201A>C, XM_017000013.2:c.2168A>C, XM_017000013.1:c.2168A>C, XM_017000014.2:c.2165A>C, XM_017000014.1:c.2165A>C, XM_017000015.2:c.2162A>C, XM_017000015.1:c.2162A>C, XM_017000017.2:c.2117A>C, XM_017000017.1:c.2117A>C, NM_001303448.2:c.2321A>C, NM_001303448.1:c.2321A>C, NR_159378.1:n.4459A>C, NM_001366568.1:c.2078A>C, NM_001366585.1:c.2075A>C, NM_001366573.1:c.2072A>C, NM_001366584.1:c.2030A>C, NM_001366587.1:c.1988A>C, NM_001366598.1:c.2033A>C, NR_159391.1:n.4170A>C, NR_159388.1:n.4165A>C, NM_001366571.1:c.2078A>C, NM_001366593.1:c.2075A>C, NR_159379.1:n.4128A>C, NM_001366590.1:c.2072A>C, NM_001366570.1:c.2069A>C, NR_159389.1:n.4122A>C, NM_001366565.1:c.2036A>C, NM_001366572.1:c.2033A>C, NM_001366567.1:c.2030A>C, NR_159385.1:n.4074A>C, NM_001366591.1:c.1988A>C, NM_001366594.1:c.1985A>C, NM_001366586.1:c.1946A>C, XM_047427315.1:c.2027A>C, XM_047427340.1:c.1982A>C, XM_047427357.1:c.1940A>C, XM_047427270.1:c.2078A>C, XM_047427257.1:c.2078A>C, NR_159383.1:n.2521A>C, NR_159387.1:n.2520A>C, NM_001366600.1:c.2078A>C, NM_001303449.1:c.2204A>C, NM_001366597.1:c.2210A>C, NM_001366566.1:c.2036A>C, NM_001366599.1:c.2030A>C, XM_047427027.1:c.2159A>C, NR_159390.1:n.2399A>C, NR_159380.1:n.2390A>C, NM_001366578.1:c.1985A>C, XM_047427056.1:c.2114A>C, NM_001366596.1:c.2120A>C, NM_001366595.1:c.2327A>C, NM_001366569.1:c.2324A>C, XM_047427068.1:c.2078A>C, NR_159382.1:n.2348A>C, XM_047427112.1:c.2075A>C, NM_001366575.1:c.2318A>C, XM_047427126.1:c.2072A>C, XM_047427145.1:c.2069A>C, NR_159386.1:n.2333A>C, NM_001366582.1:c.2282A>C, NM_001366588.1:c.2279A>C, NM_001366589.1:c.2276A>C, NR_159384.1:n.2300A>C, NM_001366577.1:c.2237A>C, NM_001366576.1:c.2234A>C, NM_001366581.1:c.2231A>C, XM_047427154.1:c.2228A>C, XM_047427188.1:c.2195A>C, XM_047427220.1:c.2192A>C, NM_001366592.1:c.2189A>C, XM_047427247.1:c.2186A>C, NP_005830.2:p.Lys762Thr, XP_016855500.1:p.Lys736Thr, XP_016855501.1:p.Lys734Thr, XP_016855502.1:p.Lys723Thr, XP_016855503.1:p.Lys722Thr, XP_016855504.1:p.Lys721Thr, XP_016855506.1:p.Lys706Thr, NP_001290377.1:p.Lys774Thr, NP_001353497.1:p.Lys693Thr, NP_001353514.1:p.Lys692Thr, NP_001353502.1:p.Lys691Thr, NP_001353513.1:p.Lys677Thr, NP_001353516.1:p.Lys663Thr, NP_001353527.1:p.Lys678Thr, NP_001353500.1:p.Lys693Thr, NP_001353522.1:p.Lys692Thr, NP_001353519.1:p.Lys691Thr, NP_001353499.1:p.Lys690Thr, NP_001353494.1:p.Lys679Thr, NP_001353501.1:p.Lys678Thr, NP_001353496.1:p.Lys677Thr, NP_001353520.1:p.Lys663Thr, NP_001353523.1:p.Lys662Thr, NP_001353515.1:p.Lys649Thr, XP_047283271.1:p.Lys676Thr, XP_047283296.1:p.Lys661Thr, XP_047283313.1:p.Lys647Thr, XP_047283226.1:p.Lys693Thr, XP_047283213.1:p.Lys693Thr, NP_001353529.1:p.Lys693Thr, NP_001290378.1:p.Lys735Thr, NP_001353526.1:p.Lys737Thr, NP_001353495.1:p.Lys679Thr, NP_001353528.1:p.Lys677Thr, XP_047282983.1:p.Lys720Thr, NP_001353507.1:p.Lys662Thr, XP_047283012.1:p.Lys705Thr, NP_001353525.1:p.Lys707Thr, NP_001353524.1:p.Lys776Thr, NP_001353498.1:p.Lys775Thr, XP_047283024.1:p.Lys693Thr, XP_047283068.1:p.Lys692Thr, NP_001353504.1:p.Lys773Thr, XP_047283082.1:p.Lys691Thr, XP_047283101.1:p.Lys690Thr, NP_001353511.1:p.Lys761Thr, NP_001353517.1:p.Lys760Thr, NP_001353518.1:p.Lys759Thr, NP_001353506.1:p.Lys746Thr, NP_001353505.1:p.Lys745Thr, NP_001353510.1:p.Lys744Thr, XP_047283110.1:p.Lys743Thr, XP_047283144.1:p.Lys732Thr, XP_047283176.1:p.Lys731Thr, NP_001353521.1:p.Lys730Thr, XP_047283203.1:p.Lys729Thr

                            14.

                            rs1475458060 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:24650011 (GRCh38)
                              1:24976502 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:24650010:A:G
                              Gene:
                              SRRM1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000001.11:g.24650011A>G, NC_000001.10:g.24976502A>G, NM_005839.4:c.446A>G, NM_005839.3:c.446A>G, XM_017000011.2:c.329A>G, XM_017000011.1:c.329A>G, XM_017000012.2:c.329A>G, XM_017000012.1:c.329A>G, XM_017000013.2:c.329A>G, XM_017000013.1:c.329A>G, XM_017000014.2:c.329A>G, XM_017000014.1:c.329A>G, XM_017000015.2:c.329A>G, XM_017000015.1:c.329A>G, XM_017000017.2:c.329A>G, XM_017000017.1:c.329A>G, NM_001303448.2:c.446A>G, NM_001303448.1:c.446A>G, XM_017000034.2:c.329A>G, XM_017000034.1:c.329A>G, NR_159378.1:n.2540A>G, NM_001366568.1:c.197A>G, NM_001366585.1:c.197A>G, NM_001366573.1:c.197A>G, NM_001366584.1:c.197A>G, NM_001366587.1:c.197A>G, NM_001366598.1:c.197A>G, NR_159391.1:n.2251A>G, NR_159388.1:n.2251A>G, NM_001366571.1:c.197A>G, NM_001366593.1:c.197A>G, NR_159379.1:n.2251A>G, NM_001366590.1:c.197A>G, NM_001366570.1:c.197A>G, NR_159389.1:n.2251A>G, NM_001366565.1:c.197A>G, NM_001366572.1:c.197A>G, NM_001366567.1:c.197A>G, NR_159385.1:n.2251A>G, NM_001366591.1:c.197A>G, NM_001366594.1:c.197A>G, NM_001366586.1:c.197A>G, XM_047427315.1:c.197A>G, XM_047427340.1:c.197A>G, XM_047427357.1:c.197A>G, XM_047427270.1:c.197A>G, XM_047427257.1:c.197A>G, NR_159383.1:n.601A>G, NR_159387.1:n.601A>G, NM_001366600.1:c.197A>G, NM_001303449.1:c.329A>G, NM_001366597.1:c.329A>G, NM_001366566.1:c.197A>G, NM_001366599.1:c.197A>G, XM_047427027.1:c.329A>G, NR_159390.1:n.579A>G, NR_159380.1:n.471A>G, NM_001366578.1:c.197A>G, XM_047427056.1:c.329A>G, NM_001366596.1:c.329A>G, NM_001366595.1:c.446A>G, NM_001366569.1:c.446A>G, XM_047427068.1:c.329A>G, NR_159382.1:n.471A>G, XM_047427112.1:c.329A>G, NM_001366575.1:c.446A>G, XM_047427126.1:c.329A>G, XM_047427145.1:c.329A>G, NR_159386.1:n.471A>G, NM_001366582.1:c.446A>G, NM_001366588.1:c.446A>G, NM_001366589.1:c.446A>G, NR_159384.1:n.471A>G, NM_001366577.1:c.446A>G, NM_001366576.1:c.446A>G, NM_001366581.1:c.446A>G, XM_047427154.1:c.446A>G, XM_047427188.1:c.446A>G, XM_047427220.1:c.446A>G, NM_001366592.1:c.446A>G, XM_047427247.1:c.446A>G, XR_007062492.1:n.471A>G, XM_047427394.1:c.446A>G, XM_047427397.1:c.446A>G, NP_005830.2:p.Glu149Gly, XP_016855500.1:p.Glu110Gly, XP_016855501.1:p.Glu110Gly, XP_016855502.1:p.Glu110Gly, XP_016855503.1:p.Glu110Gly, XP_016855504.1:p.Glu110Gly, XP_016855506.1:p.Glu110Gly, NP_001290377.1:p.Glu149Gly, XP_016855523.1:p.Glu110Gly, NP_001353497.1:p.Glu66Gly, NP_001353514.1:p.Glu66Gly, NP_001353502.1:p.Glu66Gly, NP_001353513.1:p.Glu66Gly, NP_001353516.1:p.Glu66Gly, NP_001353527.1:p.Glu66Gly, NP_001353500.1:p.Glu66Gly, NP_001353522.1:p.Glu66Gly, NP_001353519.1:p.Glu66Gly, NP_001353499.1:p.Glu66Gly, NP_001353494.1:p.Glu66Gly, NP_001353501.1:p.Glu66Gly, NP_001353496.1:p.Glu66Gly, NP_001353520.1:p.Glu66Gly, NP_001353523.1:p.Glu66Gly, NP_001353515.1:p.Glu66Gly, XP_047283271.1:p.Glu66Gly, XP_047283296.1:p.Glu66Gly, XP_047283313.1:p.Glu66Gly, XP_047283226.1:p.Glu66Gly, XP_047283213.1:p.Glu66Gly, NP_001353529.1:p.Glu66Gly, NP_001290378.1:p.Glu110Gly, NP_001353526.1:p.Glu110Gly, NP_001353495.1:p.Glu66Gly, NP_001353528.1:p.Glu66Gly, XP_047282983.1:p.Glu110Gly, NP_001353507.1:p.Glu66Gly, XP_047283012.1:p.Glu110Gly, NP_001353525.1:p.Glu110Gly, NP_001353524.1:p.Glu149Gly, NP_001353498.1:p.Glu149Gly, XP_047283024.1:p.Glu110Gly, XP_047283068.1:p.Glu110Gly, NP_001353504.1:p.Glu149Gly, XP_047283082.1:p.Glu110Gly, XP_047283101.1:p.Glu110Gly, NP_001353511.1:p.Glu149Gly, NP_001353517.1:p.Glu149Gly, NP_001353518.1:p.Glu149Gly, NP_001353506.1:p.Glu149Gly, NP_001353505.1:p.Glu149Gly, NP_001353510.1:p.Glu149Gly, XP_047283110.1:p.Glu149Gly, XP_047283144.1:p.Glu149Gly, XP_047283176.1:p.Glu149Gly, NP_001353521.1:p.Glu149Gly, XP_047283203.1:p.Glu149Gly, XP_047283350.1:p.Glu149Gly, XP_047283353.1:p.Glu149Gly

                              15.

                              rs1474410630 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:24671423 (GRCh38)
                                1:24997914 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:24671422:A:G
                                Gene:
                                SRRM1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.24671423A>G, NC_000001.10:g.24997914A>G, NM_005839.4:c.2438A>G, NM_005839.3:c.2438A>G, XM_017000011.2:c.2360A>G, XM_017000011.1:c.2360A>G, XM_017000012.2:c.2354A>G, XM_017000012.1:c.2354A>G, XM_017000013.2:c.2321A>G, XM_017000013.1:c.2321A>G, XM_017000014.2:c.2318A>G, XM_017000014.1:c.2318A>G, XM_017000015.2:c.2315A>G, XM_017000015.1:c.2315A>G, XM_017000017.2:c.2270A>G, XM_017000017.1:c.2270A>G, NM_001303448.2:c.2474A>G, NM_001303448.1:c.2474A>G, NR_159378.1:n.4612A>G, NM_001366568.1:c.2231A>G, NM_001366585.1:c.2228A>G, NM_001366573.1:c.2225A>G, NM_001366584.1:c.2183A>G, NM_001366587.1:c.2141A>G, NM_001366598.1:c.2186A>G, NR_159391.1:n.4323A>G, NR_159388.1:n.4318A>G, NM_001366571.1:c.2231A>G, NM_001366593.1:c.2228A>G, NR_159379.1:n.4281A>G, NM_001366590.1:c.2225A>G, NM_001366570.1:c.2222A>G, NR_159389.1:n.4275A>G, NM_001366565.1:c.2189A>G, NM_001366572.1:c.2186A>G, NM_001366567.1:c.2183A>G, NR_159385.1:n.4227A>G, NM_001366591.1:c.2141A>G, NM_001366594.1:c.2138A>G, NM_001366586.1:c.2099A>G, XM_047427315.1:c.2180A>G, XM_047427340.1:c.2135A>G, XM_047427357.1:c.2093A>G, XM_047427270.1:c.2231A>G, XM_047427257.1:c.2231A>G, NR_159383.1:n.2674A>G, NR_159387.1:n.2673A>G, NM_001366600.1:c.2231A>G, NM_001303449.1:c.2357A>G, NM_001366597.1:c.2363A>G, NM_001366566.1:c.2189A>G, NM_001366599.1:c.2183A>G, XM_047427027.1:c.2312A>G, NR_159390.1:n.2552A>G, NR_159380.1:n.2543A>G, NM_001366578.1:c.2138A>G, XM_047427056.1:c.2267A>G, NM_001366596.1:c.2273A>G, NM_001366595.1:c.2480A>G, NM_001366569.1:c.2477A>G, XM_047427068.1:c.2231A>G, NR_159382.1:n.2501A>G, XM_047427112.1:c.2228A>G, NM_001366575.1:c.2471A>G, XM_047427126.1:c.2225A>G, XM_047427145.1:c.2222A>G, NR_159386.1:n.2486A>G, NM_001366582.1:c.2435A>G, NM_001366588.1:c.2432A>G, NM_001366589.1:c.2429A>G, NR_159384.1:n.2453A>G, NM_001366577.1:c.2390A>G, NM_001366576.1:c.2387A>G, NM_001366581.1:c.2384A>G, XM_047427154.1:c.2381A>G, XM_047427188.1:c.2348A>G, XM_047427220.1:c.2345A>G, NM_001366592.1:c.2342A>G, XM_047427247.1:c.2339A>G, NP_005830.2:p.Lys813Arg, XP_016855500.1:p.Lys787Arg, XP_016855501.1:p.Lys785Arg, XP_016855502.1:p.Lys774Arg, XP_016855503.1:p.Lys773Arg, XP_016855504.1:p.Lys772Arg, XP_016855506.1:p.Lys757Arg, NP_001290377.1:p.Lys825Arg, NP_001353497.1:p.Lys744Arg, NP_001353514.1:p.Lys743Arg, NP_001353502.1:p.Lys742Arg, NP_001353513.1:p.Lys728Arg, NP_001353516.1:p.Lys714Arg, NP_001353527.1:p.Lys729Arg, NP_001353500.1:p.Lys744Arg, NP_001353522.1:p.Lys743Arg, NP_001353519.1:p.Lys742Arg, NP_001353499.1:p.Lys741Arg, NP_001353494.1:p.Lys730Arg, NP_001353501.1:p.Lys729Arg, NP_001353496.1:p.Lys728Arg, NP_001353520.1:p.Lys714Arg, NP_001353523.1:p.Lys713Arg, NP_001353515.1:p.Lys700Arg, XP_047283271.1:p.Lys727Arg, XP_047283296.1:p.Lys712Arg, XP_047283313.1:p.Lys698Arg, XP_047283226.1:p.Lys744Arg, XP_047283213.1:p.Lys744Arg, NP_001353529.1:p.Lys744Arg, NP_001290378.1:p.Lys786Arg, NP_001353526.1:p.Lys788Arg, NP_001353495.1:p.Lys730Arg, NP_001353528.1:p.Lys728Arg, XP_047282983.1:p.Lys771Arg, NP_001353507.1:p.Lys713Arg, XP_047283012.1:p.Lys756Arg, NP_001353525.1:p.Lys758Arg, NP_001353524.1:p.Lys827Arg, NP_001353498.1:p.Lys826Arg, XP_047283024.1:p.Lys744Arg, XP_047283068.1:p.Lys743Arg, NP_001353504.1:p.Lys824Arg, XP_047283082.1:p.Lys742Arg, XP_047283101.1:p.Lys741Arg, NP_001353511.1:p.Lys812Arg, NP_001353517.1:p.Lys811Arg, NP_001353518.1:p.Lys810Arg, NP_001353506.1:p.Lys797Arg, NP_001353505.1:p.Lys796Arg, NP_001353510.1:p.Lys795Arg, XP_047283110.1:p.Lys794Arg, XP_047283144.1:p.Lys783Arg, XP_047283176.1:p.Lys782Arg, NP_001353521.1:p.Lys781Arg, XP_047283203.1:p.Lys780Arg

                                16.

                                rs1474204950 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:24670153 (GRCh38)
                                  1:24996644 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:24670152:G:A
                                  Gene:
                                  SRRM1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.24670153G>A, NC_000001.10:g.24996644G>A, NM_005839.4:c.2238G>A, NM_005839.3:c.2238G>A, XM_017000011.2:c.2160G>A, XM_017000011.1:c.2160G>A, XM_017000012.2:c.2154G>A, XM_017000012.1:c.2154G>A, XM_017000013.2:c.2121G>A, XM_017000013.1:c.2121G>A, XM_017000014.2:c.2118G>A, XM_017000014.1:c.2118G>A, XM_017000015.2:c.2115G>A, XM_017000015.1:c.2115G>A, XM_017000017.2:c.2070G>A, XM_017000017.1:c.2070G>A, NM_001303448.2:c.2274G>A, NM_001303448.1:c.2274G>A, NR_159378.1:n.4412G>A, NM_001366568.1:c.2031G>A, NM_001366585.1:c.2028G>A, NM_001366573.1:c.2025G>A, NM_001366584.1:c.1983G>A, NM_001366587.1:c.1941G>A, NM_001366598.1:c.1986G>A, NR_159391.1:n.4123G>A, NR_159388.1:n.4118G>A, NM_001366571.1:c.2031G>A, NM_001366593.1:c.2028G>A, NR_159379.1:n.4081G>A, NM_001366590.1:c.2025G>A, NM_001366570.1:c.2022G>A, NR_159389.1:n.4075G>A, NM_001366565.1:c.1989G>A, NM_001366572.1:c.1986G>A, NM_001366567.1:c.1983G>A, NR_159385.1:n.4027G>A, NM_001366591.1:c.1941G>A, NM_001366594.1:c.1938G>A, NM_001366586.1:c.1899G>A, XM_047427315.1:c.1980G>A, XM_047427340.1:c.1935G>A, XM_047427357.1:c.1893G>A, XM_047427270.1:c.2031G>A, XM_047427257.1:c.2031G>A, NR_159383.1:n.2474G>A, NR_159387.1:n.2473G>A, NM_001366600.1:c.2031G>A, NM_001303449.1:c.2157G>A, NM_001366597.1:c.2163G>A, NM_001366566.1:c.1989G>A, NM_001366599.1:c.1983G>A, XM_047427027.1:c.2112G>A, NR_159390.1:n.2352G>A, NR_159380.1:n.2343G>A, NM_001366578.1:c.1938G>A, XM_047427056.1:c.2067G>A, NM_001366596.1:c.2073G>A, NM_001366595.1:c.2280G>A, NM_001366569.1:c.2277G>A, XM_047427068.1:c.2031G>A, NR_159382.1:n.2301G>A, XM_047427112.1:c.2028G>A, NM_001366575.1:c.2271G>A, XM_047427126.1:c.2025G>A, XM_047427145.1:c.2022G>A, NR_159386.1:n.2286G>A, NM_001366582.1:c.2235G>A, NM_001366588.1:c.2232G>A, NM_001366589.1:c.2229G>A, NR_159384.1:n.2253G>A, NM_001366577.1:c.2190G>A, NM_001366576.1:c.2187G>A, NM_001366581.1:c.2184G>A, XM_047427154.1:c.2181G>A, XM_047427188.1:c.2148G>A, XM_047427220.1:c.2145G>A, NM_001366592.1:c.2142G>A, XM_047427247.1:c.2139G>A

                                  17.

                                  rs1473955640 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    1:24669394 (GRCh38)
                                    1:24995885 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:24669393:C:A,NC_000001.11:24669393:C:T
                                    Gene:
                                    SRRM1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.24669394C>A, NC_000001.11:g.24669394C>T, NC_000001.10:g.24995885C>A, NC_000001.10:g.24995885C>T, NM_005839.4:c.2011C>A, NM_005839.4:c.2011C>T, NM_005839.3:c.2011C>A, NM_005839.3:c.2011C>T, XM_017000011.2:c.1933C>A, XM_017000011.2:c.1933C>T, XM_017000011.1:c.1933C>A, XM_017000011.1:c.1933C>T, XM_017000012.2:c.1927C>A, XM_017000012.2:c.1927C>T, XM_017000012.1:c.1927C>A, XM_017000012.1:c.1927C>T, XM_017000013.2:c.1894C>A, XM_017000013.2:c.1894C>T, XM_017000013.1:c.1894C>A, XM_017000013.1:c.1894C>T, XM_017000014.2:c.1891C>A, XM_017000014.2:c.1891C>T, XM_017000014.1:c.1891C>A, XM_017000014.1:c.1891C>T, XM_017000015.2:c.1888C>A, XM_017000015.2:c.1888C>T, XM_017000015.1:c.1888C>A, XM_017000015.1:c.1888C>T, XM_017000017.2:c.1843C>A, XM_017000017.2:c.1843C>T, XM_017000017.1:c.1843C>A, XM_017000017.1:c.1843C>T, NM_001303448.2:c.2047C>A, NM_001303448.2:c.2047C>T, NM_001303448.1:c.2047C>A, NM_001303448.1:c.2047C>T, NR_159378.1:n.4185C>A, NR_159378.1:n.4185C>T, NM_001366568.1:c.1804C>A, NM_001366568.1:c.1804C>T, NM_001366585.1:c.1801C>A, NM_001366585.1:c.1801C>T, NM_001366573.1:c.1798C>A, NM_001366573.1:c.1798C>T, NM_001366584.1:c.1756C>A, NM_001366584.1:c.1756C>T, NM_001366587.1:c.1714C>A, NM_001366587.1:c.1714C>T, NM_001366598.1:c.1759C>A, NM_001366598.1:c.1759C>T, NR_159391.1:n.3896C>A, NR_159391.1:n.3896C>T, NR_159388.1:n.3891C>A, NR_159388.1:n.3891C>T, NM_001366571.1:c.1804C>A, NM_001366571.1:c.1804C>T, NM_001366593.1:c.1801C>A, NM_001366593.1:c.1801C>T, NR_159379.1:n.3854C>A, NR_159379.1:n.3854C>T, NM_001366590.1:c.1798C>A, NM_001366590.1:c.1798C>T, NM_001366570.1:c.1795C>A, NM_001366570.1:c.1795C>T, NR_159389.1:n.3848C>A, NR_159389.1:n.3848C>T, NM_001366565.1:c.1762C>A, NM_001366565.1:c.1762C>T, NM_001366572.1:c.1759C>A, NM_001366572.1:c.1759C>T, NM_001366567.1:c.1756C>A, NM_001366567.1:c.1756C>T, NR_159385.1:n.3800C>A, NR_159385.1:n.3800C>T, NM_001366591.1:c.1714C>A, NM_001366591.1:c.1714C>T, NM_001366594.1:c.1711C>A, NM_001366594.1:c.1711C>T, NM_001366586.1:c.1672C>A, NM_001366586.1:c.1672C>T, XM_047427315.1:c.1753C>A, XM_047427315.1:c.1753C>T, XM_047427340.1:c.1708C>A, XM_047427340.1:c.1708C>T, XM_047427357.1:c.1666C>A, XM_047427357.1:c.1666C>T, XM_047427270.1:c.1804C>A, XM_047427270.1:c.1804C>T, XM_047427257.1:c.1804C>A, XM_047427257.1:c.1804C>T, NR_159383.1:n.2247C>A, NR_159383.1:n.2247C>T, NR_159387.1:n.2246C>A, NR_159387.1:n.2246C>T, NM_001366600.1:c.1804C>A, NM_001366600.1:c.1804C>T, NM_001303449.1:c.1930C>A, NM_001303449.1:c.1930C>T, NM_001366597.1:c.1936C>A, NM_001366597.1:c.1936C>T, NM_001366566.1:c.1762C>A, NM_001366566.1:c.1762C>T, NM_001366599.1:c.1756C>A, NM_001366599.1:c.1756C>T, XM_047427027.1:c.1885C>A, XM_047427027.1:c.1885C>T, NR_159390.1:n.2125C>A, NR_159390.1:n.2125C>T, NR_159380.1:n.2116C>A, NR_159380.1:n.2116C>T, NM_001366578.1:c.1711C>A, NM_001366578.1:c.1711C>T, XM_047427056.1:c.1840C>A, XM_047427056.1:c.1840C>T, NM_001366596.1:c.1846C>A, NM_001366596.1:c.1846C>T, NM_001366595.1:c.2053C>A, NM_001366595.1:c.2053C>T, NM_001366569.1:c.2050C>A, NM_001366569.1:c.2050C>T, XM_047427068.1:c.1804C>A, XM_047427068.1:c.1804C>T, NR_159382.1:n.2074C>A, NR_159382.1:n.2074C>T, XM_047427112.1:c.1801C>A, XM_047427112.1:c.1801C>T, NM_001366575.1:c.2044C>A, NM_001366575.1:c.2044C>T, XM_047427126.1:c.1798C>A, XM_047427126.1:c.1798C>T, XM_047427145.1:c.1795C>A, XM_047427145.1:c.1795C>T, NR_159386.1:n.2059C>A, NR_159386.1:n.2059C>T, NM_001366582.1:c.2008C>A, NM_001366582.1:c.2008C>T, NM_001366588.1:c.2005C>A, NM_001366588.1:c.2005C>T, NM_001366589.1:c.2002C>A, NM_001366589.1:c.2002C>T, NR_159384.1:n.2026C>A, NR_159384.1:n.2026C>T, NM_001366577.1:c.1963C>A, NM_001366577.1:c.1963C>T, NM_001366576.1:c.1960C>A, NM_001366576.1:c.1960C>T, NM_001366581.1:c.1957C>A, NM_001366581.1:c.1957C>T, XM_047427154.1:c.1954C>A, XM_047427154.1:c.1954C>T, XM_047427188.1:c.1921C>A, XM_047427188.1:c.1921C>T, XM_047427220.1:c.1918C>A, XM_047427220.1:c.1918C>T, NM_001366592.1:c.1915C>A, NM_001366592.1:c.1915C>T, XM_047427247.1:c.1912C>A, XM_047427247.1:c.1912C>T, NP_005830.2:p.Arg671Trp, XP_016855500.1:p.Arg645Trp, XP_016855501.1:p.Arg643Trp, XP_016855502.1:p.Arg632Trp, XP_016855503.1:p.Arg631Trp, XP_016855504.1:p.Arg630Trp, XP_016855506.1:p.Arg615Trp, NP_001290377.1:p.Arg683Trp, NP_001353497.1:p.Arg602Trp, NP_001353514.1:p.Arg601Trp, NP_001353502.1:p.Arg600Trp, NP_001353513.1:p.Arg586Trp, NP_001353516.1:p.Arg572Trp, NP_001353527.1:p.Arg587Trp, NP_001353500.1:p.Arg602Trp, NP_001353522.1:p.Arg601Trp, NP_001353519.1:p.Arg600Trp, NP_001353499.1:p.Arg599Trp, NP_001353494.1:p.Arg588Trp, NP_001353501.1:p.Arg587Trp, NP_001353496.1:p.Arg586Trp, NP_001353520.1:p.Arg572Trp, NP_001353523.1:p.Arg571Trp, NP_001353515.1:p.Arg558Trp, XP_047283271.1:p.Arg585Trp, XP_047283296.1:p.Arg570Trp, XP_047283313.1:p.Arg556Trp, XP_047283226.1:p.Arg602Trp, XP_047283213.1:p.Arg602Trp, NP_001353529.1:p.Arg602Trp, NP_001290378.1:p.Arg644Trp, NP_001353526.1:p.Arg646Trp, NP_001353495.1:p.Arg588Trp, NP_001353528.1:p.Arg586Trp, XP_047282983.1:p.Arg629Trp, NP_001353507.1:p.Arg571Trp, XP_047283012.1:p.Arg614Trp, NP_001353525.1:p.Arg616Trp, NP_001353524.1:p.Arg685Trp, NP_001353498.1:p.Arg684Trp, XP_047283024.1:p.Arg602Trp, XP_047283068.1:p.Arg601Trp, NP_001353504.1:p.Arg682Trp, XP_047283082.1:p.Arg600Trp, XP_047283101.1:p.Arg599Trp, NP_001353511.1:p.Arg670Trp, NP_001353517.1:p.Arg669Trp, NP_001353518.1:p.Arg668Trp, NP_001353506.1:p.Arg655Trp, NP_001353505.1:p.Arg654Trp, NP_001353510.1:p.Arg653Trp, XP_047283110.1:p.Arg652Trp, XP_047283144.1:p.Arg641Trp, XP_047283176.1:p.Arg640Trp, NP_001353521.1:p.Arg639Trp, XP_047283203.1:p.Arg638Trp

                                    18.

                                    rs1470504394 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:24666894 (GRCh38)
                                      1:24993385 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:24666893:C:T
                                      Gene:
                                      SRRM1 (Varview), LOC124904829 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000028/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.24666894C>T, NC_000001.10:g.24993385C>T, NM_005839.4:c.1708C>T, NM_005839.3:c.1708C>T, XM_017000011.2:c.1630C>T, XM_017000011.1:c.1630C>T, XM_017000012.2:c.1624C>T, XM_017000012.1:c.1624C>T, XM_017000013.2:c.1591C>T, XM_017000013.1:c.1591C>T, XM_017000014.2:c.1588C>T, XM_017000014.1:c.1588C>T, XM_017000015.2:c.1585C>T, XM_017000015.1:c.1585C>T, XM_017000017.2:c.1540C>T, XM_017000017.1:c.1540C>T, NM_001303448.2:c.1744C>T, NM_001303448.1:c.1744C>T, NR_159378.1:n.3882C>T, NM_001366568.1:c.1501C>T, NM_001366585.1:c.1498C>T, NM_001366573.1:c.1495C>T, NM_001366584.1:c.1453C>T, NM_001366587.1:c.1411C>T, NM_001366598.1:c.1456C>T, NR_159391.1:n.3593C>T, NR_159388.1:n.3588C>T, NM_001366571.1:c.1501C>T, NM_001366593.1:c.1498C>T, NR_159379.1:n.3551C>T, NM_001366590.1:c.1495C>T, NM_001366570.1:c.1492C>T, NR_159389.1:n.3545C>T, NM_001366565.1:c.1459C>T, NM_001366572.1:c.1456C>T, NM_001366567.1:c.1453C>T, NR_159385.1:n.3497C>T, NM_001366591.1:c.1411C>T, NM_001366594.1:c.1408C>T, NM_001366586.1:c.1369C>T, XM_047427315.1:c.1450C>T, XM_047427340.1:c.1405C>T, XM_047427357.1:c.1363C>T, XM_047427270.1:c.1501C>T, XM_047427257.1:c.1501C>T, NR_159383.1:n.1944C>T, NR_159387.1:n.1943C>T, NM_001366600.1:c.1501C>T, NM_001303449.1:c.1627C>T, NM_001366597.1:c.1633C>T, NM_001366566.1:c.1459C>T, NM_001366599.1:c.1453C>T, XM_047427027.1:c.1582C>T, NR_159390.1:n.1822C>T, NR_159380.1:n.1813C>T, NM_001366578.1:c.1408C>T, XM_047427056.1:c.1537C>T, NM_001366596.1:c.1543C>T, NM_001366595.1:c.1750C>T, NM_001366569.1:c.1747C>T, XM_047427068.1:c.1501C>T, NR_159382.1:n.1771C>T, XM_047427112.1:c.1498C>T, NM_001366575.1:c.1741C>T, XM_047427126.1:c.1495C>T, XM_047427145.1:c.1492C>T, NR_159386.1:n.1756C>T, NM_001366582.1:c.1705C>T, NM_001366588.1:c.1702C>T, NM_001366589.1:c.1699C>T, NR_159384.1:n.1723C>T, NM_001366577.1:c.1660C>T, NM_001366576.1:c.1657C>T, NM_001366581.1:c.1654C>T, XM_047427154.1:c.1651C>T, XM_047427188.1:c.1618C>T, XM_047427220.1:c.1615C>T, NM_001366592.1:c.1612C>T, XM_047427247.1:c.1609C>T, NP_005830.2:p.Arg570Cys, XP_016855500.1:p.Arg544Cys, XP_016855501.1:p.Arg542Cys, XP_016855502.1:p.Arg531Cys, XP_016855503.1:p.Arg530Cys, XP_016855504.1:p.Arg529Cys, XP_016855506.1:p.Arg514Cys, NP_001290377.1:p.Arg582Cys, NP_001353497.1:p.Arg501Cys, NP_001353514.1:p.Arg500Cys, NP_001353502.1:p.Arg499Cys, NP_001353513.1:p.Arg485Cys, NP_001353516.1:p.Arg471Cys, NP_001353527.1:p.Arg486Cys, NP_001353500.1:p.Arg501Cys, NP_001353522.1:p.Arg500Cys, NP_001353519.1:p.Arg499Cys, NP_001353499.1:p.Arg498Cys, NP_001353494.1:p.Arg487Cys, NP_001353501.1:p.Arg486Cys, NP_001353496.1:p.Arg485Cys, NP_001353520.1:p.Arg471Cys, NP_001353523.1:p.Arg470Cys, NP_001353515.1:p.Arg457Cys, XP_047283271.1:p.Arg484Cys, XP_047283296.1:p.Arg469Cys, XP_047283313.1:p.Arg455Cys, XP_047283226.1:p.Arg501Cys, XP_047283213.1:p.Arg501Cys, NP_001353529.1:p.Arg501Cys, NP_001290378.1:p.Arg543Cys, NP_001353526.1:p.Arg545Cys, NP_001353495.1:p.Arg487Cys, NP_001353528.1:p.Arg485Cys, XP_047282983.1:p.Arg528Cys, NP_001353507.1:p.Arg470Cys, XP_047283012.1:p.Arg513Cys, NP_001353525.1:p.Arg515Cys, NP_001353524.1:p.Arg584Cys, NP_001353498.1:p.Arg583Cys, XP_047283024.1:p.Arg501Cys, XP_047283068.1:p.Arg500Cys, NP_001353504.1:p.Arg581Cys, XP_047283082.1:p.Arg499Cys, XP_047283101.1:p.Arg498Cys, NP_001353511.1:p.Arg569Cys, NP_001353517.1:p.Arg568Cys, NP_001353518.1:p.Arg567Cys, NP_001353506.1:p.Arg554Cys, NP_001353505.1:p.Arg553Cys, NP_001353510.1:p.Arg552Cys, XP_047283110.1:p.Arg551Cys, XP_047283144.1:p.Arg540Cys, XP_047283176.1:p.Arg539Cys, NP_001353521.1:p.Arg538Cys, XP_047283203.1:p.Arg537Cys

                                      19.

                                      rs1468189906 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:24669525 (GRCh38)
                                        1:24996016 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:24669524:G:A
                                        Gene:
                                        SRRM1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000028/1 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        A=0.000017/4 (GnomAD_exomes)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.24669525G>A, NC_000001.10:g.24996016G>A, NM_005839.4:c.2142G>A, NM_005839.3:c.2142G>A, XM_017000011.2:c.2064G>A, XM_017000011.1:c.2064G>A, XM_017000012.2:c.2058G>A, XM_017000012.1:c.2058G>A, XM_017000013.2:c.2025G>A, XM_017000013.1:c.2025G>A, XM_017000014.2:c.2022G>A, XM_017000014.1:c.2022G>A, XM_017000015.2:c.2019G>A, XM_017000015.1:c.2019G>A, XM_017000017.2:c.1974G>A, XM_017000017.1:c.1974G>A, NM_001303448.2:c.2178G>A, NM_001303448.1:c.2178G>A, NR_159378.1:n.4316G>A, NM_001366568.1:c.1935G>A, NM_001366585.1:c.1932G>A, NM_001366573.1:c.1929G>A, NM_001366584.1:c.1887G>A, NM_001366587.1:c.1845G>A, NM_001366598.1:c.1890G>A, NR_159391.1:n.4027G>A, NR_159388.1:n.4022G>A, NM_001366571.1:c.1935G>A, NM_001366593.1:c.1932G>A, NR_159379.1:n.3985G>A, NM_001366590.1:c.1929G>A, NM_001366570.1:c.1926G>A, NR_159389.1:n.3979G>A, NM_001366565.1:c.1893G>A, NM_001366572.1:c.1890G>A, NM_001366567.1:c.1887G>A, NR_159385.1:n.3931G>A, NM_001366591.1:c.1845G>A, NM_001366594.1:c.1842G>A, NM_001366586.1:c.1803G>A, XM_047427315.1:c.1884G>A, XM_047427340.1:c.1839G>A, XM_047427357.1:c.1797G>A, XM_047427270.1:c.1935G>A, XM_047427257.1:c.1935G>A, NR_159383.1:n.2378G>A, NR_159387.1:n.2377G>A, NM_001366600.1:c.1935G>A, NM_001303449.1:c.2061G>A, NM_001366597.1:c.2067G>A, NM_001366566.1:c.1893G>A, NM_001366599.1:c.1887G>A, XM_047427027.1:c.2016G>A, NR_159390.1:n.2256G>A, NR_159380.1:n.2247G>A, NM_001366578.1:c.1842G>A, XM_047427056.1:c.1971G>A, NM_001366596.1:c.1977G>A, NM_001366595.1:c.2184G>A, NM_001366569.1:c.2181G>A, XM_047427068.1:c.1935G>A, NR_159382.1:n.2205G>A, XM_047427112.1:c.1932G>A, NM_001366575.1:c.2175G>A, XM_047427126.1:c.1929G>A, XM_047427145.1:c.1926G>A, NR_159386.1:n.2190G>A, NM_001366582.1:c.2139G>A, NM_001366588.1:c.2136G>A, NM_001366589.1:c.2133G>A, NR_159384.1:n.2157G>A, NM_001366577.1:c.2094G>A, NM_001366576.1:c.2091G>A, NM_001366581.1:c.2088G>A, XM_047427154.1:c.2085G>A, XM_047427188.1:c.2052G>A, XM_047427220.1:c.2049G>A, NM_001366592.1:c.2046G>A, XM_047427247.1:c.2043G>A

                                        20.

                                        rs1466409738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:24655110 (GRCh38)
                                          1:24981601 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:24655109:A:G
                                          Gene:
                                          SRRM1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.24655110A>G, NC_000001.10:g.24981601A>G, NM_005839.4:c.1296A>G, NM_005839.3:c.1296A>G, XM_017000011.2:c.1179A>G, XM_017000011.1:c.1179A>G, XM_017000012.2:c.1179A>G, XM_017000012.1:c.1179A>G, XM_017000013.2:c.1179A>G, XM_017000013.1:c.1179A>G, XM_017000014.2:c.1179A>G, XM_017000014.1:c.1179A>G, XM_017000015.2:c.1179A>G, XM_017000015.1:c.1179A>G, XM_017000017.2:c.1089A>G, XM_017000017.1:c.1089A>G, NM_001303448.2:c.1296A>G, NM_001303448.1:c.1296A>G, XM_017000034.2:c.1127A>G, XM_017000034.1:c.1127A>G, NR_159378.1:n.3428A>G, NM_001366568.1:c.1047A>G, NM_001366585.1:c.1047A>G, NM_001366573.1:c.1047A>G, NM_001366584.1:c.1047A>G, NM_001366587.1:c.957A>G, NM_001366598.1:c.1047A>G, NR_159391.1:n.3139A>G, NR_159388.1:n.3101A>G, NM_001366571.1:c.1047A>G, NM_001366593.1:c.1047A>G, NR_159379.1:n.3139A>G, NM_001366590.1:c.1047A>G, NM_001366570.1:c.1047A>G, NR_159389.1:n.3139A>G, NM_001366565.1:c.1047A>G, NM_001366572.1:c.1047A>G, NM_001366567.1:c.1047A>G, NR_159385.1:n.3049A>G, NM_001366591.1:c.957A>G, NM_001366594.1:c.957A>G, NM_001366586.1:c.957A>G, XM_047427315.1:c.1047A>G, XM_047427340.1:c.957A>G, XM_047427357.1:c.957A>G, XM_047427270.1:c.1047A>G, XM_047427257.1:c.1047A>G, NR_159383.1:n.1451A>G, NR_159387.1:n.1489A>G, NM_001366600.1:c.1047A>G, NM_001303449.1:c.1179A>G, NM_001366597.1:c.1179A>G, NM_001366566.1:c.1047A>G, NM_001366599.1:c.1047A>G, XM_047427027.1:c.1179A>G, NR_159390.1:n.1377A>G, NR_159380.1:n.1359A>G, NM_001366578.1:c.957A>G, XM_047427056.1:c.1089A>G, NM_001366596.1:c.1089A>G, NM_001366595.1:c.1296A>G, NM_001366569.1:c.1296A>G, XM_047427068.1:c.1089A>G, NR_159382.1:n.1359A>G, XM_047427112.1:c.1089A>G, NM_001366575.1:c.1296A>G, XM_047427126.1:c.1089A>G, XM_047427145.1:c.1089A>G, NR_159386.1:n.1269A>G, NM_001366582.1:c.1296A>G, NM_001366588.1:c.1296A>G, NM_001366589.1:c.1296A>G, NR_159384.1:n.1269A>G, NM_001366577.1:c.1206A>G, NM_001366576.1:c.1206A>G, NM_001366581.1:c.1206A>G, XM_047427154.1:c.1206A>G, XM_047427188.1:c.1206A>G, XM_047427220.1:c.1206A>G, NM_001366592.1:c.1206A>G, XM_047427247.1:c.1206A>G, XR_007062492.1:n.1359A>G, XM_047427394.1:c.1334A>G, XM_047427397.1:c.1334A>G, XP_016855523.1:p.Gln376Arg, XP_047283350.1:p.Gln445Arg, XP_047283353.1:p.Gln445Arg

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