U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 496

1.

rs1490178522 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    11:40116004 (GRCh38)
    11:40137554 (GRCh37)
    Canonical SPDI:
    NC_000011.10:40116003:T:G
    Gene:
    LRRC4C (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.40116004T>G, NC_000011.9:g.40137554T>G, XM_011520241.4:c.289A>C, XM_011520241.3:c.289A>C, XM_011520241.2:c.289A>C, XM_011520241.1:c.289A>C, XM_011520242.4:c.289A>C, XM_011520242.3:c.289A>C, XM_011520242.2:c.289A>C, XM_011520242.1:c.289A>C, XM_011520239.4:c.289A>C, XM_011520239.3:c.289A>C, XM_011520239.2:c.289A>C, XM_011520239.1:c.289A>C, XM_011520238.4:c.289A>C, XM_011520238.3:c.289A>C, XM_011520238.2:c.289A>C, XM_011520238.1:c.289A>C, XM_011520243.4:c.289A>C, XM_011520243.3:c.289A>C, XM_011520243.2:c.289A>C, XM_011520243.1:c.289A>C, XM_011520240.4:c.289A>C, XM_011520240.3:c.289A>C, XM_011520240.2:c.289A>C, XM_011520240.1:c.289A>C, XM_011520244.4:c.289A>C, XM_011520244.3:c.289A>C, XM_011520244.2:c.289A>C, XM_011520244.1:c.289A>C, XM_017018078.3:c.289A>C, XM_017018078.2:c.289A>C, XM_017018078.1:c.289A>C, XM_017018074.3:c.289A>C, XM_017018074.2:c.289A>C, XM_017018074.1:c.289A>C, XM_017018076.3:c.289A>C, XM_017018076.2:c.289A>C, XM_017018076.1:c.289A>C, XM_017018070.3:c.289A>C, XM_017018070.2:c.289A>C, XM_017018070.1:c.289A>C, XM_017018071.3:c.289A>C, XM_017018071.2:c.289A>C, XM_017018071.1:c.289A>C, XM_017018079.3:c.289A>C, XM_017018079.2:c.289A>C, XM_017018079.1:c.289A>C, XM_017018072.3:c.289A>C, XM_017018072.2:c.289A>C, XM_017018072.1:c.289A>C, XM_017018077.3:c.289A>C, XM_017018077.2:c.289A>C, XM_017018077.1:c.289A>C, XM_017018073.3:c.289A>C, XM_017018073.2:c.289A>C, XM_017018073.1:c.289A>C, XM_017018075.3:c.289A>C, XM_017018075.2:c.289A>C, XM_017018075.1:c.289A>C, NM_020929.3:c.289A>C, NM_020929.2:c.289A>C, NM_001258419.2:c.289A>C, NM_001258419.1:c.289A>C, XM_047427351.1:c.289A>C, XM_047427350.1:c.289A>C, NR_047673.1:n.1322A>C, XM_047427349.1:c.289A>C, NR_047674.1:n.1269A>C, XM_047427352.1:c.289A>C, XP_011518543.1:p.Lys97Gln, XP_011518544.1:p.Lys97Gln, XP_011518541.1:p.Lys97Gln, XP_011518540.1:p.Lys97Gln, XP_011518545.1:p.Lys97Gln, XP_011518542.1:p.Lys97Gln, XP_011518546.1:p.Lys97Gln, XP_016873567.1:p.Lys97Gln, XP_016873563.1:p.Lys97Gln, XP_016873565.1:p.Lys97Gln, XP_016873559.1:p.Lys97Gln, XP_016873560.1:p.Lys97Gln, XP_016873568.1:p.Lys97Gln, XP_016873561.1:p.Lys97Gln, XP_016873566.1:p.Lys97Gln, XP_016873562.1:p.Lys97Gln, XP_016873564.1:p.Lys97Gln, NP_065980.1:p.Lys97Gln, NP_001245348.1:p.Lys97Gln, XP_047283307.1:p.Lys97Gln, XP_047283306.1:p.Lys97Gln, XP_047283305.1:p.Lys97Gln, XP_047283308.1:p.Lys97Gln

    2.

    rs1489316712 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      11:40114611 (GRCh38)
      11:40136161 (GRCh37)
      Canonical SPDI:
      NC_000011.10:40114610:G:T
      Gene:
      LRRC4C (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.40114611G>T, NC_000011.9:g.40136161G>T, XM_011520241.4:c.1682C>A, XM_011520241.3:c.1682C>A, XM_011520241.2:c.1682C>A, XM_011520241.1:c.1682C>A, XM_011520242.4:c.1682C>A, XM_011520242.3:c.1682C>A, XM_011520242.2:c.1682C>A, XM_011520242.1:c.1682C>A, XM_011520239.4:c.1682C>A, XM_011520239.3:c.1682C>A, XM_011520239.2:c.1682C>A, XM_011520239.1:c.1682C>A, XM_011520238.4:c.1682C>A, XM_011520238.3:c.1682C>A, XM_011520238.2:c.1682C>A, XM_011520238.1:c.1682C>A, XM_011520243.4:c.1682C>A, XM_011520243.3:c.1682C>A, XM_011520243.2:c.1682C>A, XM_011520243.1:c.1682C>A, XM_011520240.4:c.1682C>A, XM_011520240.3:c.1682C>A, XM_011520240.2:c.1682C>A, XM_011520240.1:c.1682C>A, XM_011520244.4:c.1682C>A, XM_011520244.3:c.1682C>A, XM_011520244.2:c.1682C>A, XM_011520244.1:c.1682C>A, XM_017018078.3:c.1682C>A, XM_017018078.2:c.1682C>A, XM_017018078.1:c.1682C>A, XM_017018074.3:c.1682C>A, XM_017018074.2:c.1682C>A, XM_017018074.1:c.1682C>A, XM_017018076.3:c.1682C>A, XM_017018076.2:c.1682C>A, XM_017018076.1:c.1682C>A, XM_017018070.3:c.1682C>A, XM_017018070.2:c.1682C>A, XM_017018070.1:c.1682C>A, XM_017018071.3:c.1682C>A, XM_017018071.2:c.1682C>A, XM_017018071.1:c.1682C>A, XM_017018079.3:c.1682C>A, XM_017018079.2:c.1682C>A, XM_017018079.1:c.1682C>A, XM_017018072.3:c.1682C>A, XM_017018072.2:c.1682C>A, XM_017018072.1:c.1682C>A, XM_017018077.3:c.1682C>A, XM_017018077.2:c.1682C>A, XM_017018077.1:c.1682C>A, XM_017018073.3:c.1682C>A, XM_017018073.2:c.1682C>A, XM_017018073.1:c.1682C>A, XM_017018075.3:c.1682C>A, XM_017018075.2:c.1682C>A, XM_017018075.1:c.1682C>A, NM_020929.3:c.1682C>A, NM_020929.2:c.1682C>A, NM_001258419.2:c.1682C>A, NM_001258419.1:c.1682C>A, XM_047427351.1:c.1682C>A, XM_047427350.1:c.1682C>A, NR_047673.1:n.2715C>A, XM_047427349.1:c.1682C>A, NR_047674.1:n.2662C>A, XM_047427352.1:c.1682C>A, XP_011518543.1:p.Ala561Asp, XP_011518544.1:p.Ala561Asp, XP_011518541.1:p.Ala561Asp, XP_011518540.1:p.Ala561Asp, XP_011518545.1:p.Ala561Asp, XP_011518542.1:p.Ala561Asp, XP_011518546.1:p.Ala561Asp, XP_016873567.1:p.Ala561Asp, XP_016873563.1:p.Ala561Asp, XP_016873565.1:p.Ala561Asp, XP_016873559.1:p.Ala561Asp, XP_016873560.1:p.Ala561Asp, XP_016873568.1:p.Ala561Asp, XP_016873561.1:p.Ala561Asp, XP_016873566.1:p.Ala561Asp, XP_016873562.1:p.Ala561Asp, XP_016873564.1:p.Ala561Asp, NP_065980.1:p.Ala561Asp, NP_001245348.1:p.Ala561Asp, XP_047283307.1:p.Ala561Asp, XP_047283306.1:p.Ala561Asp, XP_047283305.1:p.Ala561Asp, XP_047283308.1:p.Ala561Asp

      3.

      rs1485685013 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        11:40114578 (GRCh38)
        11:40136128 (GRCh37)
        Canonical SPDI:
        NC_000011.10:40114577:T:G
        Gene:
        LRRC4C (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000011.10:g.40114578T>G, NC_000011.9:g.40136128T>G, XM_011520241.4:c.1715A>C, XM_011520241.3:c.1715A>C, XM_011520241.2:c.1715A>C, XM_011520241.1:c.1715A>C, XM_011520242.4:c.1715A>C, XM_011520242.3:c.1715A>C, XM_011520242.2:c.1715A>C, XM_011520242.1:c.1715A>C, XM_011520239.4:c.1715A>C, XM_011520239.3:c.1715A>C, XM_011520239.2:c.1715A>C, XM_011520239.1:c.1715A>C, XM_011520238.4:c.1715A>C, XM_011520238.3:c.1715A>C, XM_011520238.2:c.1715A>C, XM_011520238.1:c.1715A>C, XM_011520243.4:c.1715A>C, XM_011520243.3:c.1715A>C, XM_011520243.2:c.1715A>C, XM_011520243.1:c.1715A>C, XM_011520240.4:c.1715A>C, XM_011520240.3:c.1715A>C, XM_011520240.2:c.1715A>C, XM_011520240.1:c.1715A>C, XM_011520244.4:c.1715A>C, XM_011520244.3:c.1715A>C, XM_011520244.2:c.1715A>C, XM_011520244.1:c.1715A>C, XM_017018078.3:c.1715A>C, XM_017018078.2:c.1715A>C, XM_017018078.1:c.1715A>C, XM_017018074.3:c.1715A>C, XM_017018074.2:c.1715A>C, XM_017018074.1:c.1715A>C, XM_017018076.3:c.1715A>C, XM_017018076.2:c.1715A>C, XM_017018076.1:c.1715A>C, XM_017018070.3:c.1715A>C, XM_017018070.2:c.1715A>C, XM_017018070.1:c.1715A>C, XM_017018071.3:c.1715A>C, XM_017018071.2:c.1715A>C, XM_017018071.1:c.1715A>C, XM_017018079.3:c.1715A>C, XM_017018079.2:c.1715A>C, XM_017018079.1:c.1715A>C, XM_017018072.3:c.1715A>C, XM_017018072.2:c.1715A>C, XM_017018072.1:c.1715A>C, XM_017018077.3:c.1715A>C, XM_017018077.2:c.1715A>C, XM_017018077.1:c.1715A>C, XM_017018073.3:c.1715A>C, XM_017018073.2:c.1715A>C, XM_017018073.1:c.1715A>C, XM_017018075.3:c.1715A>C, XM_017018075.2:c.1715A>C, XM_017018075.1:c.1715A>C, NM_020929.3:c.1715A>C, NM_020929.2:c.1715A>C, NM_001258419.2:c.1715A>C, NM_001258419.1:c.1715A>C, XM_047427351.1:c.1715A>C, XM_047427350.1:c.1715A>C, NR_047673.1:n.2748A>C, XM_047427349.1:c.1715A>C, NR_047674.1:n.2695A>C, XM_047427352.1:c.1715A>C, XP_011518543.1:p.Asp572Ala, XP_011518544.1:p.Asp572Ala, XP_011518541.1:p.Asp572Ala, XP_011518540.1:p.Asp572Ala, XP_011518545.1:p.Asp572Ala, XP_011518542.1:p.Asp572Ala, XP_011518546.1:p.Asp572Ala, XP_016873567.1:p.Asp572Ala, XP_016873563.1:p.Asp572Ala, XP_016873565.1:p.Asp572Ala, XP_016873559.1:p.Asp572Ala, XP_016873560.1:p.Asp572Ala, XP_016873568.1:p.Asp572Ala, XP_016873561.1:p.Asp572Ala, XP_016873566.1:p.Asp572Ala, XP_016873562.1:p.Asp572Ala, XP_016873564.1:p.Asp572Ala, NP_065980.1:p.Asp572Ala, NP_001245348.1:p.Asp572Ala, XP_047283307.1:p.Asp572Ala, XP_047283306.1:p.Asp572Ala, XP_047283305.1:p.Asp572Ala, XP_047283308.1:p.Asp572Ala

        4.

        rs1477127692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          11:40114534 (GRCh38)
          11:40136084 (GRCh37)
          Canonical SPDI:
          NC_000011.10:40114533:T:A,NC_000011.10:40114533:T:C
          Gene:
          LRRC4C (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          HGVS:
          NC_000011.10:g.40114534T>A, NC_000011.10:g.40114534T>C, NC_000011.9:g.40136084T>A, NC_000011.9:g.40136084T>C, XM_011520241.4:c.1759A>T, XM_011520241.4:c.1759A>G, XM_011520241.3:c.1759A>T, XM_011520241.3:c.1759A>G, XM_011520241.2:c.1759A>T, XM_011520241.2:c.1759A>G, XM_011520241.1:c.1759A>T, XM_011520241.1:c.1759A>G, XM_011520242.4:c.1759A>T, XM_011520242.4:c.1759A>G, XM_011520242.3:c.1759A>T, XM_011520242.3:c.1759A>G, XM_011520242.2:c.1759A>T, XM_011520242.2:c.1759A>G, XM_011520242.1:c.1759A>T, XM_011520242.1:c.1759A>G, XM_011520239.4:c.1759A>T, XM_011520239.4:c.1759A>G, XM_011520239.3:c.1759A>T, XM_011520239.3:c.1759A>G, XM_011520239.2:c.1759A>T, XM_011520239.2:c.1759A>G, XM_011520239.1:c.1759A>T, XM_011520239.1:c.1759A>G, XM_011520238.4:c.1759A>T, XM_011520238.4:c.1759A>G, XM_011520238.3:c.1759A>T, XM_011520238.3:c.1759A>G, XM_011520238.2:c.1759A>T, XM_011520238.2:c.1759A>G, XM_011520238.1:c.1759A>T, XM_011520238.1:c.1759A>G, XM_011520243.4:c.1759A>T, XM_011520243.4:c.1759A>G, XM_011520243.3:c.1759A>T, XM_011520243.3:c.1759A>G, XM_011520243.2:c.1759A>T, XM_011520243.2:c.1759A>G, XM_011520243.1:c.1759A>T, XM_011520243.1:c.1759A>G, XM_011520240.4:c.1759A>T, XM_011520240.4:c.1759A>G, XM_011520240.3:c.1759A>T, XM_011520240.3:c.1759A>G, XM_011520240.2:c.1759A>T, XM_011520240.2:c.1759A>G, XM_011520240.1:c.1759A>T, XM_011520240.1:c.1759A>G, XM_011520244.4:c.1759A>T, XM_011520244.4:c.1759A>G, XM_011520244.3:c.1759A>T, XM_011520244.3:c.1759A>G, XM_011520244.2:c.1759A>T, XM_011520244.2:c.1759A>G, XM_011520244.1:c.1759A>T, XM_011520244.1:c.1759A>G, XM_017018078.3:c.1759A>T, XM_017018078.3:c.1759A>G, XM_017018078.2:c.1759A>T, XM_017018078.2:c.1759A>G, XM_017018078.1:c.1759A>T, XM_017018078.1:c.1759A>G, XM_017018074.3:c.1759A>T, XM_017018074.3:c.1759A>G, XM_017018074.2:c.1759A>T, XM_017018074.2:c.1759A>G, XM_017018074.1:c.1759A>T, XM_017018074.1:c.1759A>G, XM_017018076.3:c.1759A>T, XM_017018076.3:c.1759A>G, XM_017018076.2:c.1759A>T, XM_017018076.2:c.1759A>G, XM_017018076.1:c.1759A>T, XM_017018076.1:c.1759A>G, XM_017018070.3:c.1759A>T, XM_017018070.3:c.1759A>G, XM_017018070.2:c.1759A>T, XM_017018070.2:c.1759A>G, XM_017018070.1:c.1759A>T, XM_017018070.1:c.1759A>G, XM_017018071.3:c.1759A>T, XM_017018071.3:c.1759A>G, XM_017018071.2:c.1759A>T, XM_017018071.2:c.1759A>G, XM_017018071.1:c.1759A>T, XM_017018071.1:c.1759A>G, XM_017018079.3:c.1759A>T, XM_017018079.3:c.1759A>G, XM_017018079.2:c.1759A>T, XM_017018079.2:c.1759A>G, XM_017018079.1:c.1759A>T, XM_017018079.1:c.1759A>G, XM_017018072.3:c.1759A>T, XM_017018072.3:c.1759A>G, XM_017018072.2:c.1759A>T, XM_017018072.2:c.1759A>G, XM_017018072.1:c.1759A>T, XM_017018072.1:c.1759A>G, XM_017018077.3:c.1759A>T, XM_017018077.3:c.1759A>G, XM_017018077.2:c.1759A>T, XM_017018077.2:c.1759A>G, XM_017018077.1:c.1759A>T, XM_017018077.1:c.1759A>G, XM_017018073.3:c.1759A>T, XM_017018073.3:c.1759A>G, XM_017018073.2:c.1759A>T, XM_017018073.2:c.1759A>G, XM_017018073.1:c.1759A>T, XM_017018073.1:c.1759A>G, XM_017018075.3:c.1759A>T, XM_017018075.3:c.1759A>G, XM_017018075.2:c.1759A>T, XM_017018075.2:c.1759A>G, XM_017018075.1:c.1759A>T, XM_017018075.1:c.1759A>G, NM_020929.3:c.1759A>T, NM_020929.3:c.1759A>G, NM_020929.2:c.1759A>T, NM_020929.2:c.1759A>G, NM_001258419.2:c.1759A>T, NM_001258419.2:c.1759A>G, NM_001258419.1:c.1759A>T, NM_001258419.1:c.1759A>G, XM_047427351.1:c.1759A>T, XM_047427351.1:c.1759A>G, XM_047427350.1:c.1759A>T, XM_047427350.1:c.1759A>G, NR_047673.1:n.2792A>T, NR_047673.1:n.2792A>G, XM_047427349.1:c.1759A>T, XM_047427349.1:c.1759A>G, NR_047674.1:n.2739A>T, NR_047674.1:n.2739A>G, XM_047427352.1:c.1759A>T, XM_047427352.1:c.1759A>G, XP_011518543.1:p.Met587Leu, XP_011518543.1:p.Met587Val, XP_011518544.1:p.Met587Leu, XP_011518544.1:p.Met587Val, XP_011518541.1:p.Met587Leu, XP_011518541.1:p.Met587Val, XP_011518540.1:p.Met587Leu, XP_011518540.1:p.Met587Val, XP_011518545.1:p.Met587Leu, XP_011518545.1:p.Met587Val, XP_011518542.1:p.Met587Leu, XP_011518542.1:p.Met587Val, XP_011518546.1:p.Met587Leu, XP_011518546.1:p.Met587Val, XP_016873567.1:p.Met587Leu, XP_016873567.1:p.Met587Val, XP_016873563.1:p.Met587Leu, XP_016873563.1:p.Met587Val, XP_016873565.1:p.Met587Leu, XP_016873565.1:p.Met587Val, XP_016873559.1:p.Met587Leu, XP_016873559.1:p.Met587Val, XP_016873560.1:p.Met587Leu, XP_016873560.1:p.Met587Val, XP_016873568.1:p.Met587Leu, XP_016873568.1:p.Met587Val, XP_016873561.1:p.Met587Leu, XP_016873561.1:p.Met587Val, XP_016873566.1:p.Met587Leu, XP_016873566.1:p.Met587Val, XP_016873562.1:p.Met587Leu, XP_016873562.1:p.Met587Val, XP_016873564.1:p.Met587Leu, XP_016873564.1:p.Met587Val, NP_065980.1:p.Met587Leu, NP_065980.1:p.Met587Val, NP_001245348.1:p.Met587Leu, NP_001245348.1:p.Met587Val, XP_047283307.1:p.Met587Leu, XP_047283307.1:p.Met587Val, XP_047283306.1:p.Met587Leu, XP_047283306.1:p.Met587Val, XP_047283305.1:p.Met587Leu, XP_047283305.1:p.Met587Val, XP_047283308.1:p.Met587Leu, XP_047283308.1:p.Met587Val

          5.

          rs1473914681 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:40116113 (GRCh38)
            11:40137663 (GRCh37)
            Canonical SPDI:
            NC_000011.10:40116112:C:G
            Gene:
            LRRC4C (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.40116113C>G, NC_000011.9:g.40137663C>G, XM_011520241.4:c.180G>C, XM_011520241.3:c.180G>C, XM_011520241.2:c.180G>C, XM_011520241.1:c.180G>C, XM_011520242.4:c.180G>C, XM_011520242.3:c.180G>C, XM_011520242.2:c.180G>C, XM_011520242.1:c.180G>C, XM_011520239.4:c.180G>C, XM_011520239.3:c.180G>C, XM_011520239.2:c.180G>C, XM_011520239.1:c.180G>C, XM_011520238.4:c.180G>C, XM_011520238.3:c.180G>C, XM_011520238.2:c.180G>C, XM_011520238.1:c.180G>C, XM_011520243.4:c.180G>C, XM_011520243.3:c.180G>C, XM_011520243.2:c.180G>C, XM_011520243.1:c.180G>C, XM_011520240.4:c.180G>C, XM_011520240.3:c.180G>C, XM_011520240.2:c.180G>C, XM_011520240.1:c.180G>C, XM_011520244.4:c.180G>C, XM_011520244.3:c.180G>C, XM_011520244.2:c.180G>C, XM_011520244.1:c.180G>C, XM_017018078.3:c.180G>C, XM_017018078.2:c.180G>C, XM_017018078.1:c.180G>C, XM_017018074.3:c.180G>C, XM_017018074.2:c.180G>C, XM_017018074.1:c.180G>C, XM_017018076.3:c.180G>C, XM_017018076.2:c.180G>C, XM_017018076.1:c.180G>C, XM_017018070.3:c.180G>C, XM_017018070.2:c.180G>C, XM_017018070.1:c.180G>C, XM_017018071.3:c.180G>C, XM_017018071.2:c.180G>C, XM_017018071.1:c.180G>C, XM_017018079.3:c.180G>C, XM_017018079.2:c.180G>C, XM_017018079.1:c.180G>C, XM_017018072.3:c.180G>C, XM_017018072.2:c.180G>C, XM_017018072.1:c.180G>C, XM_017018077.3:c.180G>C, XM_017018077.2:c.180G>C, XM_017018077.1:c.180G>C, XM_017018073.3:c.180G>C, XM_017018073.2:c.180G>C, XM_017018073.1:c.180G>C, XM_017018075.3:c.180G>C, XM_017018075.2:c.180G>C, XM_017018075.1:c.180G>C, NM_020929.3:c.180G>C, NM_020929.2:c.180G>C, NM_001258419.2:c.180G>C, NM_001258419.1:c.180G>C, XM_047427351.1:c.180G>C, XM_047427350.1:c.180G>C, NR_047673.1:n.1213G>C, XM_047427349.1:c.180G>C, NR_047674.1:n.1160G>C, XM_047427352.1:c.180G>C

            6.

            rs1470104559 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:40116206 (GRCh38)
              11:40137756 (GRCh37)
              Canonical SPDI:
              NC_000011.10:40116205:C:T
              Gene:
              LRRC4C (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.40116206C>T, NC_000011.9:g.40137756C>T, XM_011520241.4:c.87G>A, XM_011520241.3:c.87G>A, XM_011520241.2:c.87G>A, XM_011520241.1:c.87G>A, XM_011520242.4:c.87G>A, XM_011520242.3:c.87G>A, XM_011520242.2:c.87G>A, XM_011520242.1:c.87G>A, XM_011520239.4:c.87G>A, XM_011520239.3:c.87G>A, XM_011520239.2:c.87G>A, XM_011520239.1:c.87G>A, XM_011520238.4:c.87G>A, XM_011520238.3:c.87G>A, XM_011520238.2:c.87G>A, XM_011520238.1:c.87G>A, XM_011520243.4:c.87G>A, XM_011520243.3:c.87G>A, XM_011520243.2:c.87G>A, XM_011520243.1:c.87G>A, XM_011520240.4:c.87G>A, XM_011520240.3:c.87G>A, XM_011520240.2:c.87G>A, XM_011520240.1:c.87G>A, XM_011520244.4:c.87G>A, XM_011520244.3:c.87G>A, XM_011520244.2:c.87G>A, XM_011520244.1:c.87G>A, XM_017018078.3:c.87G>A, XM_017018078.2:c.87G>A, XM_017018078.1:c.87G>A, XM_017018074.3:c.87G>A, XM_017018074.2:c.87G>A, XM_017018074.1:c.87G>A, XM_017018076.3:c.87G>A, XM_017018076.2:c.87G>A, XM_017018076.1:c.87G>A, XM_017018070.3:c.87G>A, XM_017018070.2:c.87G>A, XM_017018070.1:c.87G>A, XM_017018071.3:c.87G>A, XM_017018071.2:c.87G>A, XM_017018071.1:c.87G>A, XM_017018079.3:c.87G>A, XM_017018079.2:c.87G>A, XM_017018079.1:c.87G>A, XM_017018072.3:c.87G>A, XM_017018072.2:c.87G>A, XM_017018072.1:c.87G>A, XM_017018077.3:c.87G>A, XM_017018077.2:c.87G>A, XM_017018077.1:c.87G>A, XM_017018073.3:c.87G>A, XM_017018073.2:c.87G>A, XM_017018073.1:c.87G>A, XM_017018075.3:c.87G>A, XM_017018075.2:c.87G>A, XM_017018075.1:c.87G>A, NM_020929.3:c.87G>A, NM_020929.2:c.87G>A, NM_001258419.2:c.87G>A, NM_001258419.1:c.87G>A, XM_047427351.1:c.87G>A, XM_047427350.1:c.87G>A, NR_047673.1:n.1120G>A, XM_047427349.1:c.87G>A, NR_047674.1:n.1067G>A, XM_047427352.1:c.87G>A

              7.

              rs1468280863 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:40114881 (GRCh38)
                11:40136431 (GRCh37)
                Canonical SPDI:
                NC_000011.10:40114880:G:A
                Gene:
                LRRC4C (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.40114881G>A, NC_000011.9:g.40136431G>A, XM_011520241.4:c.1412C>T, XM_011520241.3:c.1412C>T, XM_011520241.2:c.1412C>T, XM_011520241.1:c.1412C>T, XM_011520242.4:c.1412C>T, XM_011520242.3:c.1412C>T, XM_011520242.2:c.1412C>T, XM_011520242.1:c.1412C>T, XM_011520239.4:c.1412C>T, XM_011520239.3:c.1412C>T, XM_011520239.2:c.1412C>T, XM_011520239.1:c.1412C>T, XM_011520238.4:c.1412C>T, XM_011520238.3:c.1412C>T, XM_011520238.2:c.1412C>T, XM_011520238.1:c.1412C>T, XM_011520243.4:c.1412C>T, XM_011520243.3:c.1412C>T, XM_011520243.2:c.1412C>T, XM_011520243.1:c.1412C>T, XM_011520240.4:c.1412C>T, XM_011520240.3:c.1412C>T, XM_011520240.2:c.1412C>T, XM_011520240.1:c.1412C>T, XM_011520244.4:c.1412C>T, XM_011520244.3:c.1412C>T, XM_011520244.2:c.1412C>T, XM_011520244.1:c.1412C>T, XM_017018078.3:c.1412C>T, XM_017018078.2:c.1412C>T, XM_017018078.1:c.1412C>T, XM_017018074.3:c.1412C>T, XM_017018074.2:c.1412C>T, XM_017018074.1:c.1412C>T, XM_017018076.3:c.1412C>T, XM_017018076.2:c.1412C>T, XM_017018076.1:c.1412C>T, XM_017018070.3:c.1412C>T, XM_017018070.2:c.1412C>T, XM_017018070.1:c.1412C>T, XM_017018071.3:c.1412C>T, XM_017018071.2:c.1412C>T, XM_017018071.1:c.1412C>T, XM_017018079.3:c.1412C>T, XM_017018079.2:c.1412C>T, XM_017018079.1:c.1412C>T, XM_017018072.3:c.1412C>T, XM_017018072.2:c.1412C>T, XM_017018072.1:c.1412C>T, XM_017018077.3:c.1412C>T, XM_017018077.2:c.1412C>T, XM_017018077.1:c.1412C>T, XM_017018073.3:c.1412C>T, XM_017018073.2:c.1412C>T, XM_017018073.1:c.1412C>T, XM_017018075.3:c.1412C>T, XM_017018075.2:c.1412C>T, XM_017018075.1:c.1412C>T, NM_020929.3:c.1412C>T, NM_020929.2:c.1412C>T, NM_001258419.2:c.1412C>T, NM_001258419.1:c.1412C>T, XM_047427351.1:c.1412C>T, XM_047427350.1:c.1412C>T, NR_047673.1:n.2445C>T, XM_047427349.1:c.1412C>T, NR_047674.1:n.2392C>T, XM_047427352.1:c.1412C>T, XP_011518543.1:p.Thr471Ile, XP_011518544.1:p.Thr471Ile, XP_011518541.1:p.Thr471Ile, XP_011518540.1:p.Thr471Ile, XP_011518545.1:p.Thr471Ile, XP_011518542.1:p.Thr471Ile, XP_011518546.1:p.Thr471Ile, XP_016873567.1:p.Thr471Ile, XP_016873563.1:p.Thr471Ile, XP_016873565.1:p.Thr471Ile, XP_016873559.1:p.Thr471Ile, XP_016873560.1:p.Thr471Ile, XP_016873568.1:p.Thr471Ile, XP_016873561.1:p.Thr471Ile, XP_016873566.1:p.Thr471Ile, XP_016873562.1:p.Thr471Ile, XP_016873564.1:p.Thr471Ile, NP_065980.1:p.Thr471Ile, NP_001245348.1:p.Thr471Ile, XP_047283307.1:p.Thr471Ile, XP_047283306.1:p.Thr471Ile, XP_047283305.1:p.Thr471Ile, XP_047283308.1:p.Thr471Ile

                8.

                rs1467078553 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:40114947 (GRCh38)
                  11:40136497 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:40114946:G:A
                  Gene:
                  LRRC4C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000011.10:g.40114947G>A, NC_000011.9:g.40136497G>A, XM_011520241.4:c.1346C>T, XM_011520241.3:c.1346C>T, XM_011520241.2:c.1346C>T, XM_011520241.1:c.1346C>T, XM_011520242.4:c.1346C>T, XM_011520242.3:c.1346C>T, XM_011520242.2:c.1346C>T, XM_011520242.1:c.1346C>T, XM_011520239.4:c.1346C>T, XM_011520239.3:c.1346C>T, XM_011520239.2:c.1346C>T, XM_011520239.1:c.1346C>T, XM_011520238.4:c.1346C>T, XM_011520238.3:c.1346C>T, XM_011520238.2:c.1346C>T, XM_011520238.1:c.1346C>T, XM_011520243.4:c.1346C>T, XM_011520243.3:c.1346C>T, XM_011520243.2:c.1346C>T, XM_011520243.1:c.1346C>T, XM_011520240.4:c.1346C>T, XM_011520240.3:c.1346C>T, XM_011520240.2:c.1346C>T, XM_011520240.1:c.1346C>T, XM_011520244.4:c.1346C>T, XM_011520244.3:c.1346C>T, XM_011520244.2:c.1346C>T, XM_011520244.1:c.1346C>T, XM_017018078.3:c.1346C>T, XM_017018078.2:c.1346C>T, XM_017018078.1:c.1346C>T, XM_017018074.3:c.1346C>T, XM_017018074.2:c.1346C>T, XM_017018074.1:c.1346C>T, XM_017018076.3:c.1346C>T, XM_017018076.2:c.1346C>T, XM_017018076.1:c.1346C>T, XM_017018070.3:c.1346C>T, XM_017018070.2:c.1346C>T, XM_017018070.1:c.1346C>T, XM_017018071.3:c.1346C>T, XM_017018071.2:c.1346C>T, XM_017018071.1:c.1346C>T, XM_017018079.3:c.1346C>T, XM_017018079.2:c.1346C>T, XM_017018079.1:c.1346C>T, XM_017018072.3:c.1346C>T, XM_017018072.2:c.1346C>T, XM_017018072.1:c.1346C>T, XM_017018077.3:c.1346C>T, XM_017018077.2:c.1346C>T, XM_017018077.1:c.1346C>T, XM_017018073.3:c.1346C>T, XM_017018073.2:c.1346C>T, XM_017018073.1:c.1346C>T, XM_017018075.3:c.1346C>T, XM_017018075.2:c.1346C>T, XM_017018075.1:c.1346C>T, NM_020929.3:c.1346C>T, NM_020929.2:c.1346C>T, NM_001258419.2:c.1346C>T, NM_001258419.1:c.1346C>T, XM_047427351.1:c.1346C>T, XM_047427350.1:c.1346C>T, NR_047673.1:n.2379C>T, XM_047427349.1:c.1346C>T, NR_047674.1:n.2326C>T, XM_047427352.1:c.1346C>T, XP_011518543.1:p.Thr449Ile, XP_011518544.1:p.Thr449Ile, XP_011518541.1:p.Thr449Ile, XP_011518540.1:p.Thr449Ile, XP_011518545.1:p.Thr449Ile, XP_011518542.1:p.Thr449Ile, XP_011518546.1:p.Thr449Ile, XP_016873567.1:p.Thr449Ile, XP_016873563.1:p.Thr449Ile, XP_016873565.1:p.Thr449Ile, XP_016873559.1:p.Thr449Ile, XP_016873560.1:p.Thr449Ile, XP_016873568.1:p.Thr449Ile, XP_016873561.1:p.Thr449Ile, XP_016873566.1:p.Thr449Ile, XP_016873562.1:p.Thr449Ile, XP_016873564.1:p.Thr449Ile, NP_065980.1:p.Thr449Ile, NP_001245348.1:p.Thr449Ile, XP_047283307.1:p.Thr449Ile, XP_047283306.1:p.Thr449Ile, XP_047283305.1:p.Thr449Ile, XP_047283308.1:p.Thr449Ile

                  9.

                  rs1465577297 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:40115474 (GRCh38)
                    11:40137024 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:40115473:G:A
                    Gene:
                    LRRC4C (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000011.10:g.40115474G>A, NC_000011.9:g.40137024G>A, XM_011520241.4:c.819C>T, XM_011520241.3:c.819C>T, XM_011520241.2:c.819C>T, XM_011520241.1:c.819C>T, XM_011520242.4:c.819C>T, XM_011520242.3:c.819C>T, XM_011520242.2:c.819C>T, XM_011520242.1:c.819C>T, XM_011520239.4:c.819C>T, XM_011520239.3:c.819C>T, XM_011520239.2:c.819C>T, XM_011520239.1:c.819C>T, XM_011520238.4:c.819C>T, XM_011520238.3:c.819C>T, XM_011520238.2:c.819C>T, XM_011520238.1:c.819C>T, XM_011520243.4:c.819C>T, XM_011520243.3:c.819C>T, XM_011520243.2:c.819C>T, XM_011520243.1:c.819C>T, XM_011520240.4:c.819C>T, XM_011520240.3:c.819C>T, XM_011520240.2:c.819C>T, XM_011520240.1:c.819C>T, XM_011520244.4:c.819C>T, XM_011520244.3:c.819C>T, XM_011520244.2:c.819C>T, XM_011520244.1:c.819C>T, XM_017018078.3:c.819C>T, XM_017018078.2:c.819C>T, XM_017018078.1:c.819C>T, XM_017018074.3:c.819C>T, XM_017018074.2:c.819C>T, XM_017018074.1:c.819C>T, XM_017018076.3:c.819C>T, XM_017018076.2:c.819C>T, XM_017018076.1:c.819C>T, XM_017018070.3:c.819C>T, XM_017018070.2:c.819C>T, XM_017018070.1:c.819C>T, XM_017018071.3:c.819C>T, XM_017018071.2:c.819C>T, XM_017018071.1:c.819C>T, XM_017018079.3:c.819C>T, XM_017018079.2:c.819C>T, XM_017018079.1:c.819C>T, XM_017018072.3:c.819C>T, XM_017018072.2:c.819C>T, XM_017018072.1:c.819C>T, XM_017018077.3:c.819C>T, XM_017018077.2:c.819C>T, XM_017018077.1:c.819C>T, XM_017018073.3:c.819C>T, XM_017018073.2:c.819C>T, XM_017018073.1:c.819C>T, XM_017018075.3:c.819C>T, XM_017018075.2:c.819C>T, XM_017018075.1:c.819C>T, NM_020929.3:c.819C>T, NM_020929.2:c.819C>T, NM_001258419.2:c.819C>T, NM_001258419.1:c.819C>T, XM_047427351.1:c.819C>T, XM_047427350.1:c.819C>T, NR_047673.1:n.1852C>T, XM_047427349.1:c.819C>T, NR_047674.1:n.1799C>T, XM_047427352.1:c.819C>T

                    10.

                    rs1464218275 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      11:40116269 (GRCh38)
                      11:40137819 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:40116268:A:C
                      Gene:
                      LRRC4C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000011.10:g.40116269A>C, NC_000011.9:g.40137819A>C, XM_011520241.4:c.24T>G, XM_011520241.3:c.24T>G, XM_011520241.2:c.24T>G, XM_011520241.1:c.24T>G, XM_011520242.4:c.24T>G, XM_011520242.3:c.24T>G, XM_011520242.2:c.24T>G, XM_011520242.1:c.24T>G, XM_011520239.4:c.24T>G, XM_011520239.3:c.24T>G, XM_011520239.2:c.24T>G, XM_011520239.1:c.24T>G, XM_011520238.4:c.24T>G, XM_011520238.3:c.24T>G, XM_011520238.2:c.24T>G, XM_011520238.1:c.24T>G, XM_011520243.4:c.24T>G, XM_011520243.3:c.24T>G, XM_011520243.2:c.24T>G, XM_011520243.1:c.24T>G, XM_011520240.4:c.24T>G, XM_011520240.3:c.24T>G, XM_011520240.2:c.24T>G, XM_011520240.1:c.24T>G, XM_011520244.4:c.24T>G, XM_011520244.3:c.24T>G, XM_011520244.2:c.24T>G, XM_011520244.1:c.24T>G, XM_017018078.3:c.24T>G, XM_017018078.2:c.24T>G, XM_017018078.1:c.24T>G, XM_017018074.3:c.24T>G, XM_017018074.2:c.24T>G, XM_017018074.1:c.24T>G, XM_017018076.3:c.24T>G, XM_017018076.2:c.24T>G, XM_017018076.1:c.24T>G, XM_017018070.3:c.24T>G, XM_017018070.2:c.24T>G, XM_017018070.1:c.24T>G, XM_017018071.3:c.24T>G, XM_017018071.2:c.24T>G, XM_017018071.1:c.24T>G, XM_017018079.3:c.24T>G, XM_017018079.2:c.24T>G, XM_017018079.1:c.24T>G, XM_017018072.3:c.24T>G, XM_017018072.2:c.24T>G, XM_017018072.1:c.24T>G, XM_017018077.3:c.24T>G, XM_017018077.2:c.24T>G, XM_017018077.1:c.24T>G, XM_017018073.3:c.24T>G, XM_017018073.2:c.24T>G, XM_017018073.1:c.24T>G, XM_017018075.3:c.24T>G, XM_017018075.2:c.24T>G, XM_017018075.1:c.24T>G, NM_020929.3:c.24T>G, NM_020929.2:c.24T>G, NM_001258419.2:c.24T>G, NM_001258419.1:c.24T>G, XM_047427351.1:c.24T>G, XM_047427350.1:c.24T>G, NR_047673.1:n.1057T>G, XM_047427349.1:c.24T>G, NR_047674.1:n.1004T>G, XM_047427352.1:c.24T>G, XP_011518543.1:p.His8Gln, XP_011518544.1:p.His8Gln, XP_011518541.1:p.His8Gln, XP_011518540.1:p.His8Gln, XP_011518545.1:p.His8Gln, XP_011518542.1:p.His8Gln, XP_011518546.1:p.His8Gln, XP_016873567.1:p.His8Gln, XP_016873563.1:p.His8Gln, XP_016873565.1:p.His8Gln, XP_016873559.1:p.His8Gln, XP_016873560.1:p.His8Gln, XP_016873568.1:p.His8Gln, XP_016873561.1:p.His8Gln, XP_016873566.1:p.His8Gln, XP_016873562.1:p.His8Gln, XP_016873564.1:p.His8Gln, NP_065980.1:p.His8Gln, NP_001245348.1:p.His8Gln, XP_047283307.1:p.His8Gln, XP_047283306.1:p.His8Gln, XP_047283305.1:p.His8Gln, XP_047283308.1:p.His8Gln

                      11.

                      rs1460181110 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:40116267 (GRCh38)
                        11:40137817 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:40116266:G:A
                        Gene:
                        LRRC4C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000011.10:g.40116267G>A, NC_000011.9:g.40137817G>A, XM_011520241.4:c.26C>T, XM_011520241.3:c.26C>T, XM_011520241.2:c.26C>T, XM_011520241.1:c.26C>T, XM_011520242.4:c.26C>T, XM_011520242.3:c.26C>T, XM_011520242.2:c.26C>T, XM_011520242.1:c.26C>T, XM_011520239.4:c.26C>T, XM_011520239.3:c.26C>T, XM_011520239.2:c.26C>T, XM_011520239.1:c.26C>T, XM_011520238.4:c.26C>T, XM_011520238.3:c.26C>T, XM_011520238.2:c.26C>T, XM_011520238.1:c.26C>T, XM_011520243.4:c.26C>T, XM_011520243.3:c.26C>T, XM_011520243.2:c.26C>T, XM_011520243.1:c.26C>T, XM_011520240.4:c.26C>T, XM_011520240.3:c.26C>T, XM_011520240.2:c.26C>T, XM_011520240.1:c.26C>T, XM_011520244.4:c.26C>T, XM_011520244.3:c.26C>T, XM_011520244.2:c.26C>T, XM_011520244.1:c.26C>T, XM_017018078.3:c.26C>T, XM_017018078.2:c.26C>T, XM_017018078.1:c.26C>T, XM_017018074.3:c.26C>T, XM_017018074.2:c.26C>T, XM_017018074.1:c.26C>T, XM_017018076.3:c.26C>T, XM_017018076.2:c.26C>T, XM_017018076.1:c.26C>T, XM_017018070.3:c.26C>T, XM_017018070.2:c.26C>T, XM_017018070.1:c.26C>T, XM_017018071.3:c.26C>T, XM_017018071.2:c.26C>T, XM_017018071.1:c.26C>T, XM_017018079.3:c.26C>T, XM_017018079.2:c.26C>T, XM_017018079.1:c.26C>T, XM_017018072.3:c.26C>T, XM_017018072.2:c.26C>T, XM_017018072.1:c.26C>T, XM_017018077.3:c.26C>T, XM_017018077.2:c.26C>T, XM_017018077.1:c.26C>T, XM_017018073.3:c.26C>T, XM_017018073.2:c.26C>T, XM_017018073.1:c.26C>T, XM_017018075.3:c.26C>T, XM_017018075.2:c.26C>T, XM_017018075.1:c.26C>T, NM_020929.3:c.26C>T, NM_020929.2:c.26C>T, NM_001258419.2:c.26C>T, NM_001258419.1:c.26C>T, XM_047427351.1:c.26C>T, XM_047427350.1:c.26C>T, NR_047673.1:n.1059C>T, XM_047427349.1:c.26C>T, NR_047674.1:n.1006C>T, XM_047427352.1:c.26C>T, XP_011518543.1:p.Pro9Leu, XP_011518544.1:p.Pro9Leu, XP_011518541.1:p.Pro9Leu, XP_011518540.1:p.Pro9Leu, XP_011518545.1:p.Pro9Leu, XP_011518542.1:p.Pro9Leu, XP_011518546.1:p.Pro9Leu, XP_016873567.1:p.Pro9Leu, XP_016873563.1:p.Pro9Leu, XP_016873565.1:p.Pro9Leu, XP_016873559.1:p.Pro9Leu, XP_016873560.1:p.Pro9Leu, XP_016873568.1:p.Pro9Leu, XP_016873561.1:p.Pro9Leu, XP_016873566.1:p.Pro9Leu, XP_016873562.1:p.Pro9Leu, XP_016873564.1:p.Pro9Leu, NP_065980.1:p.Pro9Leu, NP_001245348.1:p.Pro9Leu, XP_047283307.1:p.Pro9Leu, XP_047283306.1:p.Pro9Leu, XP_047283305.1:p.Pro9Leu, XP_047283308.1:p.Pro9Leu

                        12.

                        rs1458845264 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:40115859 (GRCh38)
                          11:40137409 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:40115858:A:G
                          Gene:
                          LRRC4C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.40115859A>G, NC_000011.9:g.40137409A>G, XM_011520241.4:c.434T>C, XM_011520241.3:c.434T>C, XM_011520241.2:c.434T>C, XM_011520241.1:c.434T>C, XM_011520242.4:c.434T>C, XM_011520242.3:c.434T>C, XM_011520242.2:c.434T>C, XM_011520242.1:c.434T>C, XM_011520239.4:c.434T>C, XM_011520239.3:c.434T>C, XM_011520239.2:c.434T>C, XM_011520239.1:c.434T>C, XM_011520238.4:c.434T>C, XM_011520238.3:c.434T>C, XM_011520238.2:c.434T>C, XM_011520238.1:c.434T>C, XM_011520243.4:c.434T>C, XM_011520243.3:c.434T>C, XM_011520243.2:c.434T>C, XM_011520243.1:c.434T>C, XM_011520240.4:c.434T>C, XM_011520240.3:c.434T>C, XM_011520240.2:c.434T>C, XM_011520240.1:c.434T>C, XM_011520244.4:c.434T>C, XM_011520244.3:c.434T>C, XM_011520244.2:c.434T>C, XM_011520244.1:c.434T>C, XM_017018078.3:c.434T>C, XM_017018078.2:c.434T>C, XM_017018078.1:c.434T>C, XM_017018074.3:c.434T>C, XM_017018074.2:c.434T>C, XM_017018074.1:c.434T>C, XM_017018076.3:c.434T>C, XM_017018076.2:c.434T>C, XM_017018076.1:c.434T>C, XM_017018070.3:c.434T>C, XM_017018070.2:c.434T>C, XM_017018070.1:c.434T>C, XM_017018071.3:c.434T>C, XM_017018071.2:c.434T>C, XM_017018071.1:c.434T>C, XM_017018079.3:c.434T>C, XM_017018079.2:c.434T>C, XM_017018079.1:c.434T>C, XM_017018072.3:c.434T>C, XM_017018072.2:c.434T>C, XM_017018072.1:c.434T>C, XM_017018077.3:c.434T>C, XM_017018077.2:c.434T>C, XM_017018077.1:c.434T>C, XM_017018073.3:c.434T>C, XM_017018073.2:c.434T>C, XM_017018073.1:c.434T>C, XM_017018075.3:c.434T>C, XM_017018075.2:c.434T>C, XM_017018075.1:c.434T>C, NM_020929.3:c.434T>C, NM_020929.2:c.434T>C, NM_001258419.2:c.434T>C, NM_001258419.1:c.434T>C, XM_047427351.1:c.434T>C, XM_047427350.1:c.434T>C, NR_047673.1:n.1467T>C, XM_047427349.1:c.434T>C, NR_047674.1:n.1414T>C, XM_047427352.1:c.434T>C, XP_011518543.1:p.Val145Ala, XP_011518544.1:p.Val145Ala, XP_011518541.1:p.Val145Ala, XP_011518540.1:p.Val145Ala, XP_011518545.1:p.Val145Ala, XP_011518542.1:p.Val145Ala, XP_011518546.1:p.Val145Ala, XP_016873567.1:p.Val145Ala, XP_016873563.1:p.Val145Ala, XP_016873565.1:p.Val145Ala, XP_016873559.1:p.Val145Ala, XP_016873560.1:p.Val145Ala, XP_016873568.1:p.Val145Ala, XP_016873561.1:p.Val145Ala, XP_016873566.1:p.Val145Ala, XP_016873562.1:p.Val145Ala, XP_016873564.1:p.Val145Ala, NP_065980.1:p.Val145Ala, NP_001245348.1:p.Val145Ala, XP_047283307.1:p.Val145Ala, XP_047283306.1:p.Val145Ala, XP_047283305.1:p.Val145Ala, XP_047283308.1:p.Val145Ala

                          13.

                          rs1458128380 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:40114559 (GRCh38)
                            11:40136109 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:40114558:G:A
                            Gene:
                            LRRC4C (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.40114559G>A, NC_000011.9:g.40136109G>A, XM_011520241.4:c.1734C>T, XM_011520241.3:c.1734C>T, XM_011520241.2:c.1734C>T, XM_011520241.1:c.1734C>T, XM_011520242.4:c.1734C>T, XM_011520242.3:c.1734C>T, XM_011520242.2:c.1734C>T, XM_011520242.1:c.1734C>T, XM_011520239.4:c.1734C>T, XM_011520239.3:c.1734C>T, XM_011520239.2:c.1734C>T, XM_011520239.1:c.1734C>T, XM_011520238.4:c.1734C>T, XM_011520238.3:c.1734C>T, XM_011520238.2:c.1734C>T, XM_011520238.1:c.1734C>T, XM_011520243.4:c.1734C>T, XM_011520243.3:c.1734C>T, XM_011520243.2:c.1734C>T, XM_011520243.1:c.1734C>T, XM_011520240.4:c.1734C>T, XM_011520240.3:c.1734C>T, XM_011520240.2:c.1734C>T, XM_011520240.1:c.1734C>T, XM_011520244.4:c.1734C>T, XM_011520244.3:c.1734C>T, XM_011520244.2:c.1734C>T, XM_011520244.1:c.1734C>T, XM_017018078.3:c.1734C>T, XM_017018078.2:c.1734C>T, XM_017018078.1:c.1734C>T, XM_017018074.3:c.1734C>T, XM_017018074.2:c.1734C>T, XM_017018074.1:c.1734C>T, XM_017018076.3:c.1734C>T, XM_017018076.2:c.1734C>T, XM_017018076.1:c.1734C>T, XM_017018070.3:c.1734C>T, XM_017018070.2:c.1734C>T, XM_017018070.1:c.1734C>T, XM_017018071.3:c.1734C>T, XM_017018071.2:c.1734C>T, XM_017018071.1:c.1734C>T, XM_017018079.3:c.1734C>T, XM_017018079.2:c.1734C>T, XM_017018079.1:c.1734C>T, XM_017018072.3:c.1734C>T, XM_017018072.2:c.1734C>T, XM_017018072.1:c.1734C>T, XM_017018077.3:c.1734C>T, XM_017018077.2:c.1734C>T, XM_017018077.1:c.1734C>T, XM_017018073.3:c.1734C>T, XM_017018073.2:c.1734C>T, XM_017018073.1:c.1734C>T, XM_017018075.3:c.1734C>T, XM_017018075.2:c.1734C>T, XM_017018075.1:c.1734C>T, NM_020929.3:c.1734C>T, NM_020929.2:c.1734C>T, NM_001258419.2:c.1734C>T, NM_001258419.1:c.1734C>T, XM_047427351.1:c.1734C>T, XM_047427350.1:c.1734C>T, NR_047673.1:n.2767C>T, XM_047427349.1:c.1734C>T, NR_047674.1:n.2714C>T, XM_047427352.1:c.1734C>T

                            14.

                            rs1457120152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              11:40114431 (GRCh38)
                              11:40135981 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:40114430:A:C,NC_000011.10:40114430:A:G
                              Gene:
                              LRRC4C (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000028/1 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.40114431A>C, NC_000011.10:g.40114431A>G, NC_000011.9:g.40135981A>C, NC_000011.9:g.40135981A>G, XM_011520241.4:c.1862T>G, XM_011520241.4:c.1862T>C, XM_011520241.3:c.1862T>G, XM_011520241.3:c.1862T>C, XM_011520241.2:c.1862T>G, XM_011520241.2:c.1862T>C, XM_011520241.1:c.1862T>G, XM_011520241.1:c.1862T>C, XM_011520242.4:c.1862T>G, XM_011520242.4:c.1862T>C, XM_011520242.3:c.1862T>G, XM_011520242.3:c.1862T>C, XM_011520242.2:c.1862T>G, XM_011520242.2:c.1862T>C, XM_011520242.1:c.1862T>G, XM_011520242.1:c.1862T>C, XM_011520239.4:c.1862T>G, XM_011520239.4:c.1862T>C, XM_011520239.3:c.1862T>G, XM_011520239.3:c.1862T>C, XM_011520239.2:c.1862T>G, XM_011520239.2:c.1862T>C, XM_011520239.1:c.1862T>G, XM_011520239.1:c.1862T>C, XM_011520238.4:c.1862T>G, XM_011520238.4:c.1862T>C, XM_011520238.3:c.1862T>G, XM_011520238.3:c.1862T>C, XM_011520238.2:c.1862T>G, XM_011520238.2:c.1862T>C, XM_011520238.1:c.1862T>G, XM_011520238.1:c.1862T>C, XM_011520243.4:c.1862T>G, XM_011520243.4:c.1862T>C, XM_011520243.3:c.1862T>G, XM_011520243.3:c.1862T>C, XM_011520243.2:c.1862T>G, XM_011520243.2:c.1862T>C, XM_011520243.1:c.1862T>G, XM_011520243.1:c.1862T>C, XM_011520240.4:c.1862T>G, XM_011520240.4:c.1862T>C, XM_011520240.3:c.1862T>G, XM_011520240.3:c.1862T>C, XM_011520240.2:c.1862T>G, XM_011520240.2:c.1862T>C, XM_011520240.1:c.1862T>G, XM_011520240.1:c.1862T>C, XM_011520244.4:c.1862T>G, XM_011520244.4:c.1862T>C, XM_011520244.3:c.1862T>G, XM_011520244.3:c.1862T>C, XM_011520244.2:c.1862T>G, XM_011520244.2:c.1862T>C, XM_011520244.1:c.1862T>G, XM_011520244.1:c.1862T>C, XM_017018078.3:c.1862T>G, XM_017018078.3:c.1862T>C, XM_017018078.2:c.1862T>G, XM_017018078.2:c.1862T>C, XM_017018078.1:c.1862T>G, XM_017018078.1:c.1862T>C, XM_017018074.3:c.1862T>G, XM_017018074.3:c.1862T>C, XM_017018074.2:c.1862T>G, XM_017018074.2:c.1862T>C, XM_017018074.1:c.1862T>G, XM_017018074.1:c.1862T>C, XM_017018076.3:c.1862T>G, XM_017018076.3:c.1862T>C, XM_017018076.2:c.1862T>G, XM_017018076.2:c.1862T>C, XM_017018076.1:c.1862T>G, XM_017018076.1:c.1862T>C, XM_017018070.3:c.1862T>G, XM_017018070.3:c.1862T>C, XM_017018070.2:c.1862T>G, XM_017018070.2:c.1862T>C, XM_017018070.1:c.1862T>G, XM_017018070.1:c.1862T>C, XM_017018071.3:c.1862T>G, XM_017018071.3:c.1862T>C, XM_017018071.2:c.1862T>G, XM_017018071.2:c.1862T>C, XM_017018071.1:c.1862T>G, XM_017018071.1:c.1862T>C, XM_017018079.3:c.1862T>G, XM_017018079.3:c.1862T>C, XM_017018079.2:c.1862T>G, XM_017018079.2:c.1862T>C, XM_017018079.1:c.1862T>G, XM_017018079.1:c.1862T>C, XM_017018072.3:c.1862T>G, XM_017018072.3:c.1862T>C, XM_017018072.2:c.1862T>G, XM_017018072.2:c.1862T>C, XM_017018072.1:c.1862T>G, XM_017018072.1:c.1862T>C, XM_017018077.3:c.1862T>G, XM_017018077.3:c.1862T>C, XM_017018077.2:c.1862T>G, XM_017018077.2:c.1862T>C, XM_017018077.1:c.1862T>G, XM_017018077.1:c.1862T>C, XM_017018073.3:c.1862T>G, XM_017018073.3:c.1862T>C, XM_017018073.2:c.1862T>G, XM_017018073.2:c.1862T>C, XM_017018073.1:c.1862T>G, XM_017018073.1:c.1862T>C, XM_017018075.3:c.1862T>G, XM_017018075.3:c.1862T>C, XM_017018075.2:c.1862T>G, XM_017018075.2:c.1862T>C, XM_017018075.1:c.1862T>G, XM_017018075.1:c.1862T>C, NM_020929.3:c.1862T>G, NM_020929.3:c.1862T>C, NM_020929.2:c.1862T>G, NM_020929.2:c.1862T>C, NM_001258419.2:c.1862T>G, NM_001258419.2:c.1862T>C, NM_001258419.1:c.1862T>G, NM_001258419.1:c.1862T>C, XM_047427351.1:c.1862T>G, XM_047427351.1:c.1862T>C, XM_047427350.1:c.1862T>G, XM_047427350.1:c.1862T>C, NR_047673.1:n.2895T>G, NR_047673.1:n.2895T>C, XM_047427349.1:c.1862T>G, XM_047427349.1:c.1862T>C, NR_047674.1:n.2842T>G, NR_047674.1:n.2842T>C, XM_047427352.1:c.1862T>G, XM_047427352.1:c.1862T>C, XP_011518543.1:p.Val621Gly, XP_011518543.1:p.Val621Ala, XP_011518544.1:p.Val621Gly, XP_011518544.1:p.Val621Ala, XP_011518541.1:p.Val621Gly, XP_011518541.1:p.Val621Ala, XP_011518540.1:p.Val621Gly, XP_011518540.1:p.Val621Ala, XP_011518545.1:p.Val621Gly, XP_011518545.1:p.Val621Ala, XP_011518542.1:p.Val621Gly, XP_011518542.1:p.Val621Ala, XP_011518546.1:p.Val621Gly, XP_011518546.1:p.Val621Ala, XP_016873567.1:p.Val621Gly, XP_016873567.1:p.Val621Ala, XP_016873563.1:p.Val621Gly, XP_016873563.1:p.Val621Ala, XP_016873565.1:p.Val621Gly, XP_016873565.1:p.Val621Ala, XP_016873559.1:p.Val621Gly, XP_016873559.1:p.Val621Ala, XP_016873560.1:p.Val621Gly, XP_016873560.1:p.Val621Ala, XP_016873568.1:p.Val621Gly, XP_016873568.1:p.Val621Ala, XP_016873561.1:p.Val621Gly, XP_016873561.1:p.Val621Ala, XP_016873566.1:p.Val621Gly, XP_016873566.1:p.Val621Ala, XP_016873562.1:p.Val621Gly, XP_016873562.1:p.Val621Ala, XP_016873564.1:p.Val621Gly, XP_016873564.1:p.Val621Ala, NP_065980.1:p.Val621Gly, NP_065980.1:p.Val621Ala, NP_001245348.1:p.Val621Gly, NP_001245348.1:p.Val621Ala, XP_047283307.1:p.Val621Gly, XP_047283307.1:p.Val621Ala, XP_047283306.1:p.Val621Gly, XP_047283306.1:p.Val621Ala, XP_047283305.1:p.Val621Gly, XP_047283305.1:p.Val621Ala, XP_047283308.1:p.Val621Gly, XP_047283308.1:p.Val621Ala

                              15.

                              rs1454271046 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                11:40116157 (GRCh38)
                                11:40137707 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:40116156:T:C,NC_000011.10:40116156:T:G
                                Gene:
                                LRRC4C (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                G=0.002729/5 (Korea1K)
                                HGVS:
                                NC_000011.10:g.40116157T>C, NC_000011.10:g.40116157T>G, NC_000011.9:g.40137707T>C, NC_000011.9:g.40137707T>G, XM_011520241.4:c.136A>G, XM_011520241.4:c.136A>C, XM_011520241.3:c.136A>G, XM_011520241.3:c.136A>C, XM_011520241.2:c.136A>G, XM_011520241.2:c.136A>C, XM_011520241.1:c.136A>G, XM_011520241.1:c.136A>C, XM_011520242.4:c.136A>G, XM_011520242.4:c.136A>C, XM_011520242.3:c.136A>G, XM_011520242.3:c.136A>C, XM_011520242.2:c.136A>G, XM_011520242.2:c.136A>C, XM_011520242.1:c.136A>G, XM_011520242.1:c.136A>C, XM_011520239.4:c.136A>G, XM_011520239.4:c.136A>C, XM_011520239.3:c.136A>G, XM_011520239.3:c.136A>C, XM_011520239.2:c.136A>G, XM_011520239.2:c.136A>C, XM_011520239.1:c.136A>G, XM_011520239.1:c.136A>C, XM_011520238.4:c.136A>G, XM_011520238.4:c.136A>C, XM_011520238.3:c.136A>G, XM_011520238.3:c.136A>C, XM_011520238.2:c.136A>G, XM_011520238.2:c.136A>C, XM_011520238.1:c.136A>G, XM_011520238.1:c.136A>C, XM_011520243.4:c.136A>G, XM_011520243.4:c.136A>C, XM_011520243.3:c.136A>G, XM_011520243.3:c.136A>C, XM_011520243.2:c.136A>G, XM_011520243.2:c.136A>C, XM_011520243.1:c.136A>G, XM_011520243.1:c.136A>C, XM_011520240.4:c.136A>G, XM_011520240.4:c.136A>C, XM_011520240.3:c.136A>G, XM_011520240.3:c.136A>C, XM_011520240.2:c.136A>G, XM_011520240.2:c.136A>C, XM_011520240.1:c.136A>G, XM_011520240.1:c.136A>C, XM_011520244.4:c.136A>G, XM_011520244.4:c.136A>C, XM_011520244.3:c.136A>G, XM_011520244.3:c.136A>C, XM_011520244.2:c.136A>G, XM_011520244.2:c.136A>C, XM_011520244.1:c.136A>G, XM_011520244.1:c.136A>C, XM_017018078.3:c.136A>G, XM_017018078.3:c.136A>C, XM_017018078.2:c.136A>G, XM_017018078.2:c.136A>C, XM_017018078.1:c.136A>G, XM_017018078.1:c.136A>C, XM_017018074.3:c.136A>G, XM_017018074.3:c.136A>C, XM_017018074.2:c.136A>G, XM_017018074.2:c.136A>C, XM_017018074.1:c.136A>G, XM_017018074.1:c.136A>C, XM_017018076.3:c.136A>G, XM_017018076.3:c.136A>C, XM_017018076.2:c.136A>G, XM_017018076.2:c.136A>C, XM_017018076.1:c.136A>G, XM_017018076.1:c.136A>C, XM_017018070.3:c.136A>G, XM_017018070.3:c.136A>C, XM_017018070.2:c.136A>G, XM_017018070.2:c.136A>C, XM_017018070.1:c.136A>G, XM_017018070.1:c.136A>C, XM_017018071.3:c.136A>G, XM_017018071.3:c.136A>C, XM_017018071.2:c.136A>G, XM_017018071.2:c.136A>C, XM_017018071.1:c.136A>G, XM_017018071.1:c.136A>C, XM_017018079.3:c.136A>G, XM_017018079.3:c.136A>C, XM_017018079.2:c.136A>G, XM_017018079.2:c.136A>C, XM_017018079.1:c.136A>G, XM_017018079.1:c.136A>C, XM_017018072.3:c.136A>G, XM_017018072.3:c.136A>C, XM_017018072.2:c.136A>G, XM_017018072.2:c.136A>C, XM_017018072.1:c.136A>G, XM_017018072.1:c.136A>C, XM_017018077.3:c.136A>G, XM_017018077.3:c.136A>C, XM_017018077.2:c.136A>G, XM_017018077.2:c.136A>C, XM_017018077.1:c.136A>G, XM_017018077.1:c.136A>C, XM_017018073.3:c.136A>G, XM_017018073.3:c.136A>C, XM_017018073.2:c.136A>G, XM_017018073.2:c.136A>C, XM_017018073.1:c.136A>G, XM_017018073.1:c.136A>C, XM_017018075.3:c.136A>G, XM_017018075.3:c.136A>C, XM_017018075.2:c.136A>G, XM_017018075.2:c.136A>C, XM_017018075.1:c.136A>G, XM_017018075.1:c.136A>C, NM_020929.3:c.136A>G, NM_020929.3:c.136A>C, NM_020929.2:c.136A>G, NM_020929.2:c.136A>C, NM_001258419.2:c.136A>G, NM_001258419.2:c.136A>C, NM_001258419.1:c.136A>G, NM_001258419.1:c.136A>C, XM_047427351.1:c.136A>G, XM_047427351.1:c.136A>C, XM_047427350.1:c.136A>G, XM_047427350.1:c.136A>C, NR_047673.1:n.1169A>G, NR_047673.1:n.1169A>C, XM_047427349.1:c.136A>G, XM_047427349.1:c.136A>C, NR_047674.1:n.1116A>G, NR_047674.1:n.1116A>C, XM_047427352.1:c.136A>G, XM_047427352.1:c.136A>C, XP_011518543.1:p.Thr46Ala, XP_011518543.1:p.Thr46Pro, XP_011518544.1:p.Thr46Ala, XP_011518544.1:p.Thr46Pro, XP_011518541.1:p.Thr46Ala, XP_011518541.1:p.Thr46Pro, XP_011518540.1:p.Thr46Ala, XP_011518540.1:p.Thr46Pro, XP_011518545.1:p.Thr46Ala, XP_011518545.1:p.Thr46Pro, XP_011518542.1:p.Thr46Ala, XP_011518542.1:p.Thr46Pro, XP_011518546.1:p.Thr46Ala, XP_011518546.1:p.Thr46Pro, XP_016873567.1:p.Thr46Ala, XP_016873567.1:p.Thr46Pro, XP_016873563.1:p.Thr46Ala, XP_016873563.1:p.Thr46Pro, XP_016873565.1:p.Thr46Ala, XP_016873565.1:p.Thr46Pro, XP_016873559.1:p.Thr46Ala, XP_016873559.1:p.Thr46Pro, XP_016873560.1:p.Thr46Ala, XP_016873560.1:p.Thr46Pro, XP_016873568.1:p.Thr46Ala, XP_016873568.1:p.Thr46Pro, XP_016873561.1:p.Thr46Ala, XP_016873561.1:p.Thr46Pro, XP_016873566.1:p.Thr46Ala, XP_016873566.1:p.Thr46Pro, XP_016873562.1:p.Thr46Ala, XP_016873562.1:p.Thr46Pro, XP_016873564.1:p.Thr46Ala, XP_016873564.1:p.Thr46Pro, NP_065980.1:p.Thr46Ala, NP_065980.1:p.Thr46Pro, NP_001245348.1:p.Thr46Ala, NP_001245348.1:p.Thr46Pro, XP_047283307.1:p.Thr46Ala, XP_047283307.1:p.Thr46Pro, XP_047283306.1:p.Thr46Ala, XP_047283306.1:p.Thr46Pro, XP_047283305.1:p.Thr46Ala, XP_047283305.1:p.Thr46Pro, XP_047283308.1:p.Thr46Ala, XP_047283308.1:p.Thr46Pro

                                16.

                                rs1450656731 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:40116219 (GRCh38)
                                  11:40137769 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:40116218:G:A
                                  Gene:
                                  LRRC4C (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.40116219G>A, NC_000011.9:g.40137769G>A, XM_011520241.4:c.74C>T, XM_011520241.3:c.74C>T, XM_011520241.2:c.74C>T, XM_011520241.1:c.74C>T, XM_011520242.4:c.74C>T, XM_011520242.3:c.74C>T, XM_011520242.2:c.74C>T, XM_011520242.1:c.74C>T, XM_011520239.4:c.74C>T, XM_011520239.3:c.74C>T, XM_011520239.2:c.74C>T, XM_011520239.1:c.74C>T, XM_011520238.4:c.74C>T, XM_011520238.3:c.74C>T, XM_011520238.2:c.74C>T, XM_011520238.1:c.74C>T, XM_011520243.4:c.74C>T, XM_011520243.3:c.74C>T, XM_011520243.2:c.74C>T, XM_011520243.1:c.74C>T, XM_011520240.4:c.74C>T, XM_011520240.3:c.74C>T, XM_011520240.2:c.74C>T, XM_011520240.1:c.74C>T, XM_011520244.4:c.74C>T, XM_011520244.3:c.74C>T, XM_011520244.2:c.74C>T, XM_011520244.1:c.74C>T, XM_017018078.3:c.74C>T, XM_017018078.2:c.74C>T, XM_017018078.1:c.74C>T, XM_017018074.3:c.74C>T, XM_017018074.2:c.74C>T, XM_017018074.1:c.74C>T, XM_017018076.3:c.74C>T, XM_017018076.2:c.74C>T, XM_017018076.1:c.74C>T, XM_017018070.3:c.74C>T, XM_017018070.2:c.74C>T, XM_017018070.1:c.74C>T, XM_017018071.3:c.74C>T, XM_017018071.2:c.74C>T, XM_017018071.1:c.74C>T, XM_017018079.3:c.74C>T, XM_017018079.2:c.74C>T, XM_017018079.1:c.74C>T, XM_017018072.3:c.74C>T, XM_017018072.2:c.74C>T, XM_017018072.1:c.74C>T, XM_017018077.3:c.74C>T, XM_017018077.2:c.74C>T, XM_017018077.1:c.74C>T, XM_017018073.3:c.74C>T, XM_017018073.2:c.74C>T, XM_017018073.1:c.74C>T, XM_017018075.3:c.74C>T, XM_017018075.2:c.74C>T, XM_017018075.1:c.74C>T, NM_020929.3:c.74C>T, NM_020929.2:c.74C>T, NM_001258419.2:c.74C>T, NM_001258419.1:c.74C>T, XM_047427351.1:c.74C>T, XM_047427350.1:c.74C>T, NR_047673.1:n.1107C>T, XM_047427349.1:c.74C>T, NR_047674.1:n.1054C>T, XM_047427352.1:c.74C>T, XP_011518543.1:p.Pro25Leu, XP_011518544.1:p.Pro25Leu, XP_011518541.1:p.Pro25Leu, XP_011518540.1:p.Pro25Leu, XP_011518545.1:p.Pro25Leu, XP_011518542.1:p.Pro25Leu, XP_011518546.1:p.Pro25Leu, XP_016873567.1:p.Pro25Leu, XP_016873563.1:p.Pro25Leu, XP_016873565.1:p.Pro25Leu, XP_016873559.1:p.Pro25Leu, XP_016873560.1:p.Pro25Leu, XP_016873568.1:p.Pro25Leu, XP_016873561.1:p.Pro25Leu, XP_016873566.1:p.Pro25Leu, XP_016873562.1:p.Pro25Leu, XP_016873564.1:p.Pro25Leu, NP_065980.1:p.Pro25Leu, NP_001245348.1:p.Pro25Leu, XP_047283307.1:p.Pro25Leu, XP_047283306.1:p.Pro25Leu, XP_047283305.1:p.Pro25Leu, XP_047283308.1:p.Pro25Leu

                                  17.

                                  rs1447830102 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:40114844 (GRCh38)
                                    11:40136394 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:40114843:G:A
                                    Gene:
                                    LRRC4C (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.40114844G>A, NC_000011.9:g.40136394G>A, XM_011520241.4:c.1449C>T, XM_011520241.3:c.1449C>T, XM_011520241.2:c.1449C>T, XM_011520241.1:c.1449C>T, XM_011520242.4:c.1449C>T, XM_011520242.3:c.1449C>T, XM_011520242.2:c.1449C>T, XM_011520242.1:c.1449C>T, XM_011520239.4:c.1449C>T, XM_011520239.3:c.1449C>T, XM_011520239.2:c.1449C>T, XM_011520239.1:c.1449C>T, XM_011520238.4:c.1449C>T, XM_011520238.3:c.1449C>T, XM_011520238.2:c.1449C>T, XM_011520238.1:c.1449C>T, XM_011520243.4:c.1449C>T, XM_011520243.3:c.1449C>T, XM_011520243.2:c.1449C>T, XM_011520243.1:c.1449C>T, XM_011520240.4:c.1449C>T, XM_011520240.3:c.1449C>T, XM_011520240.2:c.1449C>T, XM_011520240.1:c.1449C>T, XM_011520244.4:c.1449C>T, XM_011520244.3:c.1449C>T, XM_011520244.2:c.1449C>T, XM_011520244.1:c.1449C>T, XM_017018078.3:c.1449C>T, XM_017018078.2:c.1449C>T, XM_017018078.1:c.1449C>T, XM_017018074.3:c.1449C>T, XM_017018074.2:c.1449C>T, XM_017018074.1:c.1449C>T, XM_017018076.3:c.1449C>T, XM_017018076.2:c.1449C>T, XM_017018076.1:c.1449C>T, XM_017018070.3:c.1449C>T, XM_017018070.2:c.1449C>T, XM_017018070.1:c.1449C>T, XM_017018071.3:c.1449C>T, XM_017018071.2:c.1449C>T, XM_017018071.1:c.1449C>T, XM_017018079.3:c.1449C>T, XM_017018079.2:c.1449C>T, XM_017018079.1:c.1449C>T, XM_017018072.3:c.1449C>T, XM_017018072.2:c.1449C>T, XM_017018072.1:c.1449C>T, XM_017018077.3:c.1449C>T, XM_017018077.2:c.1449C>T, XM_017018077.1:c.1449C>T, XM_017018073.3:c.1449C>T, XM_017018073.2:c.1449C>T, XM_017018073.1:c.1449C>T, XM_017018075.3:c.1449C>T, XM_017018075.2:c.1449C>T, XM_017018075.1:c.1449C>T, NM_020929.3:c.1449C>T, NM_020929.2:c.1449C>T, NM_001258419.2:c.1449C>T, NM_001258419.1:c.1449C>T, XM_047427351.1:c.1449C>T, XM_047427350.1:c.1449C>T, NR_047673.1:n.2482C>T, XM_047427349.1:c.1449C>T, NR_047674.1:n.2429C>T, XM_047427352.1:c.1449C>T

                                    18.

                                    rs1444909041 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:40115597 (GRCh38)
                                      11:40137147 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:40115596:A:G
                                      Gene:
                                      LRRC4C (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.40115597A>G, NC_000011.9:g.40137147A>G, XM_011520241.4:c.696T>C, XM_011520241.3:c.696T>C, XM_011520241.2:c.696T>C, XM_011520241.1:c.696T>C, XM_011520242.4:c.696T>C, XM_011520242.3:c.696T>C, XM_011520242.2:c.696T>C, XM_011520242.1:c.696T>C, XM_011520239.4:c.696T>C, XM_011520239.3:c.696T>C, XM_011520239.2:c.696T>C, XM_011520239.1:c.696T>C, XM_011520238.4:c.696T>C, XM_011520238.3:c.696T>C, XM_011520238.2:c.696T>C, XM_011520238.1:c.696T>C, XM_011520243.4:c.696T>C, XM_011520243.3:c.696T>C, XM_011520243.2:c.696T>C, XM_011520243.1:c.696T>C, XM_011520240.4:c.696T>C, XM_011520240.3:c.696T>C, XM_011520240.2:c.696T>C, XM_011520240.1:c.696T>C, XM_011520244.4:c.696T>C, XM_011520244.3:c.696T>C, XM_011520244.2:c.696T>C, XM_011520244.1:c.696T>C, XM_017018078.3:c.696T>C, XM_017018078.2:c.696T>C, XM_017018078.1:c.696T>C, XM_017018074.3:c.696T>C, XM_017018074.2:c.696T>C, XM_017018074.1:c.696T>C, XM_017018076.3:c.696T>C, XM_017018076.2:c.696T>C, XM_017018076.1:c.696T>C, XM_017018070.3:c.696T>C, XM_017018070.2:c.696T>C, XM_017018070.1:c.696T>C, XM_017018071.3:c.696T>C, XM_017018071.2:c.696T>C, XM_017018071.1:c.696T>C, XM_017018079.3:c.696T>C, XM_017018079.2:c.696T>C, XM_017018079.1:c.696T>C, XM_017018072.3:c.696T>C, XM_017018072.2:c.696T>C, XM_017018072.1:c.696T>C, XM_017018077.3:c.696T>C, XM_017018077.2:c.696T>C, XM_017018077.1:c.696T>C, XM_017018073.3:c.696T>C, XM_017018073.2:c.696T>C, XM_017018073.1:c.696T>C, XM_017018075.3:c.696T>C, XM_017018075.2:c.696T>C, XM_017018075.1:c.696T>C, NM_020929.3:c.696T>C, NM_020929.2:c.696T>C, NM_001258419.2:c.696T>C, NM_001258419.1:c.696T>C, XM_047427351.1:c.696T>C, XM_047427350.1:c.696T>C, NR_047673.1:n.1729T>C, XM_047427349.1:c.696T>C, NR_047674.1:n.1676T>C, XM_047427352.1:c.696T>C

                                      19.

                                      rs1442991152 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        11:40116199 (GRCh38)
                                        11:40137749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:40116198:C:A,NC_000011.10:40116198:C:G
                                        Gene:
                                        LRRC4C (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        A=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000011.10:g.40116199C>A, NC_000011.10:g.40116199C>G, NC_000011.9:g.40137749C>A, NC_000011.9:g.40137749C>G, XM_011520241.4:c.94G>T, XM_011520241.4:c.94G>C, XM_011520241.3:c.94G>T, XM_011520241.3:c.94G>C, XM_011520241.2:c.94G>T, XM_011520241.2:c.94G>C, XM_011520241.1:c.94G>T, XM_011520241.1:c.94G>C, XM_011520242.4:c.94G>T, XM_011520242.4:c.94G>C, XM_011520242.3:c.94G>T, XM_011520242.3:c.94G>C, XM_011520242.2:c.94G>T, XM_011520242.2:c.94G>C, XM_011520242.1:c.94G>T, XM_011520242.1:c.94G>C, XM_011520239.4:c.94G>T, XM_011520239.4:c.94G>C, XM_011520239.3:c.94G>T, XM_011520239.3:c.94G>C, XM_011520239.2:c.94G>T, XM_011520239.2:c.94G>C, XM_011520239.1:c.94G>T, XM_011520239.1:c.94G>C, XM_011520238.4:c.94G>T, XM_011520238.4:c.94G>C, XM_011520238.3:c.94G>T, XM_011520238.3:c.94G>C, XM_011520238.2:c.94G>T, XM_011520238.2:c.94G>C, XM_011520238.1:c.94G>T, XM_011520238.1:c.94G>C, XM_011520243.4:c.94G>T, XM_011520243.4:c.94G>C, XM_011520243.3:c.94G>T, XM_011520243.3:c.94G>C, XM_011520243.2:c.94G>T, XM_011520243.2:c.94G>C, XM_011520243.1:c.94G>T, XM_011520243.1:c.94G>C, XM_011520240.4:c.94G>T, XM_011520240.4:c.94G>C, XM_011520240.3:c.94G>T, XM_011520240.3:c.94G>C, XM_011520240.2:c.94G>T, XM_011520240.2:c.94G>C, XM_011520240.1:c.94G>T, XM_011520240.1:c.94G>C, XM_011520244.4:c.94G>T, XM_011520244.4:c.94G>C, XM_011520244.3:c.94G>T, XM_011520244.3:c.94G>C, XM_011520244.2:c.94G>T, XM_011520244.2:c.94G>C, XM_011520244.1:c.94G>T, XM_011520244.1:c.94G>C, XM_017018078.3:c.94G>T, XM_017018078.3:c.94G>C, XM_017018078.2:c.94G>T, XM_017018078.2:c.94G>C, XM_017018078.1:c.94G>T, XM_017018078.1:c.94G>C, XM_017018074.3:c.94G>T, XM_017018074.3:c.94G>C, XM_017018074.2:c.94G>T, XM_017018074.2:c.94G>C, XM_017018074.1:c.94G>T, XM_017018074.1:c.94G>C, XM_017018076.3:c.94G>T, XM_017018076.3:c.94G>C, XM_017018076.2:c.94G>T, XM_017018076.2:c.94G>C, XM_017018076.1:c.94G>T, XM_017018076.1:c.94G>C, XM_017018070.3:c.94G>T, XM_017018070.3:c.94G>C, XM_017018070.2:c.94G>T, XM_017018070.2:c.94G>C, XM_017018070.1:c.94G>T, XM_017018070.1:c.94G>C, XM_017018071.3:c.94G>T, XM_017018071.3:c.94G>C, XM_017018071.2:c.94G>T, XM_017018071.2:c.94G>C, XM_017018071.1:c.94G>T, XM_017018071.1:c.94G>C, XM_017018079.3:c.94G>T, XM_017018079.3:c.94G>C, XM_017018079.2:c.94G>T, XM_017018079.2:c.94G>C, XM_017018079.1:c.94G>T, XM_017018079.1:c.94G>C, XM_017018072.3:c.94G>T, XM_017018072.3:c.94G>C, XM_017018072.2:c.94G>T, XM_017018072.2:c.94G>C, XM_017018072.1:c.94G>T, XM_017018072.1:c.94G>C, XM_017018077.3:c.94G>T, XM_017018077.3:c.94G>C, XM_017018077.2:c.94G>T, XM_017018077.2:c.94G>C, XM_017018077.1:c.94G>T, XM_017018077.1:c.94G>C, XM_017018073.3:c.94G>T, XM_017018073.3:c.94G>C, XM_017018073.2:c.94G>T, XM_017018073.2:c.94G>C, XM_017018073.1:c.94G>T, XM_017018073.1:c.94G>C, XM_017018075.3:c.94G>T, XM_017018075.3:c.94G>C, XM_017018075.2:c.94G>T, XM_017018075.2:c.94G>C, XM_017018075.1:c.94G>T, XM_017018075.1:c.94G>C, NM_020929.3:c.94G>T, NM_020929.3:c.94G>C, NM_020929.2:c.94G>T, NM_020929.2:c.94G>C, NM_001258419.2:c.94G>T, NM_001258419.2:c.94G>C, NM_001258419.1:c.94G>T, NM_001258419.1:c.94G>C, XM_047427351.1:c.94G>T, XM_047427351.1:c.94G>C, XM_047427350.1:c.94G>T, XM_047427350.1:c.94G>C, NR_047673.1:n.1127G>T, NR_047673.1:n.1127G>C, XM_047427349.1:c.94G>T, XM_047427349.1:c.94G>C, NR_047674.1:n.1074G>T, NR_047674.1:n.1074G>C, XM_047427352.1:c.94G>T, XM_047427352.1:c.94G>C, XP_011518543.1:p.Ala32Ser, XP_011518543.1:p.Ala32Pro, XP_011518544.1:p.Ala32Ser, XP_011518544.1:p.Ala32Pro, XP_011518541.1:p.Ala32Ser, XP_011518541.1:p.Ala32Pro, XP_011518540.1:p.Ala32Ser, XP_011518540.1:p.Ala32Pro, XP_011518545.1:p.Ala32Ser, XP_011518545.1:p.Ala32Pro, XP_011518542.1:p.Ala32Ser, XP_011518542.1:p.Ala32Pro, XP_011518546.1:p.Ala32Ser, XP_011518546.1:p.Ala32Pro, XP_016873567.1:p.Ala32Ser, XP_016873567.1:p.Ala32Pro, XP_016873563.1:p.Ala32Ser, XP_016873563.1:p.Ala32Pro, XP_016873565.1:p.Ala32Ser, XP_016873565.1:p.Ala32Pro, XP_016873559.1:p.Ala32Ser, XP_016873559.1:p.Ala32Pro, XP_016873560.1:p.Ala32Ser, XP_016873560.1:p.Ala32Pro, XP_016873568.1:p.Ala32Ser, XP_016873568.1:p.Ala32Pro, XP_016873561.1:p.Ala32Ser, XP_016873561.1:p.Ala32Pro, XP_016873566.1:p.Ala32Ser, XP_016873566.1:p.Ala32Pro, XP_016873562.1:p.Ala32Ser, XP_016873562.1:p.Ala32Pro, XP_016873564.1:p.Ala32Ser, XP_016873564.1:p.Ala32Pro, NP_065980.1:p.Ala32Ser, NP_065980.1:p.Ala32Pro, NP_001245348.1:p.Ala32Ser, NP_001245348.1:p.Ala32Pro, XP_047283307.1:p.Ala32Ser, XP_047283307.1:p.Ala32Pro, XP_047283306.1:p.Ala32Ser, XP_047283306.1:p.Ala32Pro, XP_047283305.1:p.Ala32Ser, XP_047283305.1:p.Ala32Pro, XP_047283308.1:p.Ala32Ser, XP_047283308.1:p.Ala32Pro

                                        20.

                                        rs1439838517 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:40115978 (GRCh38)
                                          11:40137528 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:40115977:T:C
                                          Gene:
                                          LRRC4C (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000019/5 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.40115978T>C, NC_000011.9:g.40137528T>C, XM_011520241.4:c.315A>G, XM_011520241.3:c.315A>G, XM_011520241.2:c.315A>G, XM_011520241.1:c.315A>G, XM_011520242.4:c.315A>G, XM_011520242.3:c.315A>G, XM_011520242.2:c.315A>G, XM_011520242.1:c.315A>G, XM_011520239.4:c.315A>G, XM_011520239.3:c.315A>G, XM_011520239.2:c.315A>G, XM_011520239.1:c.315A>G, XM_011520238.4:c.315A>G, XM_011520238.3:c.315A>G, XM_011520238.2:c.315A>G, XM_011520238.1:c.315A>G, XM_011520243.4:c.315A>G, XM_011520243.3:c.315A>G, XM_011520243.2:c.315A>G, XM_011520243.1:c.315A>G, XM_011520240.4:c.315A>G, XM_011520240.3:c.315A>G, XM_011520240.2:c.315A>G, XM_011520240.1:c.315A>G, XM_011520244.4:c.315A>G, XM_011520244.3:c.315A>G, XM_011520244.2:c.315A>G, XM_011520244.1:c.315A>G, XM_017018078.3:c.315A>G, XM_017018078.2:c.315A>G, XM_017018078.1:c.315A>G, XM_017018074.3:c.315A>G, XM_017018074.2:c.315A>G, XM_017018074.1:c.315A>G, XM_017018076.3:c.315A>G, XM_017018076.2:c.315A>G, XM_017018076.1:c.315A>G, XM_017018070.3:c.315A>G, XM_017018070.2:c.315A>G, XM_017018070.1:c.315A>G, XM_017018071.3:c.315A>G, XM_017018071.2:c.315A>G, XM_017018071.1:c.315A>G, XM_017018079.3:c.315A>G, XM_017018079.2:c.315A>G, XM_017018079.1:c.315A>G, XM_017018072.3:c.315A>G, XM_017018072.2:c.315A>G, XM_017018072.1:c.315A>G, XM_017018077.3:c.315A>G, XM_017018077.2:c.315A>G, XM_017018077.1:c.315A>G, XM_017018073.3:c.315A>G, XM_017018073.2:c.315A>G, XM_017018073.1:c.315A>G, XM_017018075.3:c.315A>G, XM_017018075.2:c.315A>G, XM_017018075.1:c.315A>G, NM_020929.3:c.315A>G, NM_020929.2:c.315A>G, NM_001258419.2:c.315A>G, NM_001258419.1:c.315A>G, XM_047427351.1:c.315A>G, XM_047427350.1:c.315A>G, NR_047673.1:n.1348A>G, XM_047427349.1:c.315A>G, NR_047674.1:n.1295A>G, XM_047427352.1:c.315A>G

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...