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Items: 1 to 20 of 726

1.

rs1490167095 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:57659662 (GRCh38)
    16:57693574 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57659661:G:A
    Gene:
    ADGRG1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.57659662G>A, NC_000016.9:g.57693574G>A, NG_011643.1:g.44665G>A, NM_005682.7:c.1554G>A, NM_005682.6:c.1554G>A, NM_005682.5:c.1554G>A, NM_201524.4:c.1536G>A, NM_201524.3:c.1536G>A, NM_201524.2:c.1536G>A, NM_201525.4:c.1536G>A, NM_201525.3:c.1536G>A, NM_201525.2:c.1536G>A, NM_001145772.3:c.1536G>A, NM_001145772.2:c.1536G>A, NM_001145772.1:c.1536G>A, NM_001145771.3:c.1554G>A, NM_001145771.2:c.1554G>A, NM_001145771.1:c.1554G>A, NM_001145774.3:c.1536G>A, NM_001145774.2:c.1536G>A, NM_001145774.1:c.1536G>A, NM_001145770.3:c.1536G>A, NM_001145770.2:c.1536G>A, NM_001145770.1:c.1536G>A, NM_001145773.3:c.1551G>A, NM_001145773.2:c.1551G>A, NM_001145773.1:c.1551G>A, NM_001290144.2:c.1011G>A, NM_001290144.1:c.1011G>A, NM_001290143.2:c.1029G>A, NM_001290143.1:c.1029G>A, NM_001290142.2:c.1044G>A, NM_001290142.1:c.1044G>A, NM_001370428.1:c.1554G>A, NM_001370440.1:c.1536G>A, NM_001370436.1:c.1536G>A, NM_001370453.1:c.1011G>A, NM_001370431.1:c.1554G>A, NM_001370434.1:c.1551G>A, NM_001370451.1:c.1011G>A, NM_001370437.1:c.1536G>A, NM_001370429.1:c.1554G>A, NM_001370430.1:c.1554G>A, NM_001370438.1:c.1536G>A, NM_001370454.1:c.1011G>A, NM_001370435.1:c.1536G>A, NM_001370432.1:c.1554G>A, NM_001370433.1:c.1551G>A, NM_001370439.1:c.1536G>A, NM_001370441.1:c.1533G>A, NM_001370442.1:c.1380G>A, XM_006721339.5:c.1569G>A, XM_006721339.4:c.1569G>A, XM_006721339.3:c.1569G>A, XM_006721339.2:c.1569G>A, XM_006721339.1:c.1569G>A, XM_005256242.5:c.1569G>A, XM_005256242.4:c.1569G>A, XM_005256242.3:c.1569G>A, XM_005256242.2:c.1569G>A, XM_005256242.1:c.1569G>A, XM_005256241.5:c.1569G>A, XM_005256241.4:c.1569G>A, XM_005256241.3:c.1569G>A, XM_005256241.2:c.1569G>A, XM_005256241.1:c.1569G>A, XM_005256240.5:c.1569G>A, XM_005256240.4:c.1569G>A, XM_005256240.3:c.1569G>A, XM_005256240.2:c.1569G>A, XM_005256240.1:c.1569G>A, XM_006721340.4:c.1569G>A, XM_006721340.3:c.1569G>A, XM_006721340.2:c.1569G>A, XM_006721340.1:c.1569G>A, XM_005256244.4:c.1569G>A, XM_005256244.3:c.1569G>A, XM_005256244.2:c.1569G>A, XM_005256244.1:c.1569G>A, XM_005256239.3:c.1569G>A, XM_005256239.2:c.1569G>A, XM_005256239.1:c.1569G>A, XM_006721338.3:c.1569G>A, XM_006721338.2:c.1569G>A, XM_006721338.1:c.1569G>A, XM_005256238.3:c.1569G>A, XM_005256238.2:c.1569G>A, XM_005256238.1:c.1569G>A, XM_005256246.3:c.1554G>A, XM_005256246.2:c.1554G>A, XM_005256246.1:c.1554G>A, XM_006721342.3:c.1554G>A, XM_006721342.2:c.1554G>A, XM_006721342.1:c.1554G>A, XM_006721347.3:c.1551G>A, XM_006721347.2:c.1551G>A, XM_006721347.1:c.1551G>A, XM_005256255.3:c.1536G>A, XM_005256255.2:c.1536G>A, XM_005256255.1:c.1536G>A, XM_011523462.3:c.1569G>A, XM_011523462.2:c.1569G>A, XM_011523462.1:c.1569G>A, XM_011523466.3:c.1554G>A, XM_011523466.2:c.1554G>A, XM_011523466.1:c.1554G>A, XM_005256245.3:c.1569G>A, XM_005256245.2:c.1569G>A, XM_005256245.1:c.1569G>A, XM_005256254.3:c.1554G>A, XM_005256254.2:c.1554G>A, XM_005256254.1:c.1554G>A, XM_005256237.3:c.1569G>A, XM_005256237.2:c.1569G>A, XM_005256237.1:c.1569G>A, XM_005256248.3:c.1554G>A, XM_005256248.2:c.1554G>A, XM_005256248.1:c.1554G>A, XM_005256252.3:c.1554G>A, XM_005256252.2:c.1554G>A, XM_005256252.1:c.1554G>A, XM_011523468.3:c.1554G>A, XM_011523468.2:c.1554G>A, XM_011523468.1:c.1554G>A, XM_017023892.2:c.1536G>A, XM_017023892.1:c.1536G>A, XM_047434909.1:c.1551G>A, XM_047434911.1:c.1551G>A, XM_047434907.1:c.1551G>A, XM_047434906.1:c.1569G>A, XM_047434913.1:c.1536G>A, XM_047434910.1:c.1551G>A, XM_047434908.1:c.1551G>A, XM_047434914.1:c.1536G>A, XM_047434912.1:c.1551G>A, XM_047434915.1:c.1536G>A, XM_047434916.1:c.1536G>A

    2.

    rs1488480156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      16:57655437 (GRCh38)
      16:57689349 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57655436:G:A,NC_000016.10:57655436:G:T
      Gene:
      ADGRG1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Clinical significance:
      likely-benign
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.57655437G>A, NC_000016.10:g.57655437G>T, NC_000016.9:g.57689349G>A, NC_000016.9:g.57689349G>T, NG_011643.1:g.40440G>A, NG_011643.1:g.40440G>T, NM_005682.7:c.807G>A, NM_005682.7:c.807G>T, NM_005682.6:c.807G>A, NM_005682.6:c.807G>T, NM_005682.5:c.807G>A, NM_005682.5:c.807G>T, NM_201524.4:c.807G>A, NM_201524.4:c.807G>T, NM_201524.3:c.807G>A, NM_201524.3:c.807G>T, NM_201524.2:c.807G>A, NM_201524.2:c.807G>T, NM_201525.4:c.807G>A, NM_201525.4:c.807G>T, NM_201525.3:c.807G>A, NM_201525.3:c.807G>T, NM_201525.2:c.807G>A, NM_201525.2:c.807G>T, NM_001145772.3:c.807G>A, NM_001145772.3:c.807G>T, NM_001145772.2:c.807G>A, NM_001145772.2:c.807G>T, NM_001145772.1:c.807G>A, NM_001145772.1:c.807G>T, NM_001145771.3:c.807G>A, NM_001145771.3:c.807G>T, NM_001145771.2:c.807G>A, NM_001145771.2:c.807G>T, NM_001145771.1:c.807G>A, NM_001145771.1:c.807G>T, NM_001145774.3:c.807G>A, NM_001145774.3:c.807G>T, NM_001145774.2:c.807G>A, NM_001145774.2:c.807G>T, NM_001145774.1:c.807G>A, NM_001145774.1:c.807G>T, NM_001145770.3:c.807G>A, NM_001145770.3:c.807G>T, NM_001145770.2:c.807G>A, NM_001145770.2:c.807G>T, NM_001145770.1:c.807G>A, NM_001145770.1:c.807G>T, NM_001145773.3:c.822G>A, NM_001145773.3:c.822G>T, NM_001145773.2:c.822G>A, NM_001145773.2:c.822G>T, NM_001145773.1:c.822G>A, NM_001145773.1:c.822G>T, NM_001290144.2:c.282G>A, NM_001290144.2:c.282G>T, NM_001290144.1:c.282G>A, NM_001290144.1:c.282G>T, NM_001290143.2:c.282G>A, NM_001290143.2:c.282G>T, NM_001290143.1:c.282G>A, NM_001290143.1:c.282G>T, NM_001290142.2:c.297G>A, NM_001290142.2:c.297G>T, NM_001290142.1:c.297G>A, NM_001290142.1:c.297G>T, NM_001370428.1:c.807G>A, NM_001370428.1:c.807G>T, NM_001370440.1:c.807G>A, NM_001370440.1:c.807G>T, NM_001370436.1:c.807G>A, NM_001370436.1:c.807G>T, NM_001370453.1:c.282G>A, NM_001370453.1:c.282G>T, NM_001370431.1:c.807G>A, NM_001370431.1:c.807G>T, NM_001370434.1:c.807G>A, NM_001370434.1:c.807G>T, NM_001370451.1:c.282G>A, NM_001370451.1:c.282G>T, NM_001370437.1:c.807G>A, NM_001370437.1:c.807G>T, NM_001370429.1:c.807G>A, NM_001370429.1:c.807G>T, NM_001370430.1:c.807G>A, NM_001370430.1:c.807G>T, NM_001370438.1:c.807G>A, NM_001370438.1:c.807G>T, NM_001370454.1:c.282G>A, NM_001370454.1:c.282G>T, NM_001370435.1:c.807G>A, NM_001370435.1:c.807G>T, NM_001370432.1:c.807G>A, NM_001370432.1:c.807G>T, NM_001370433.1:c.822G>A, NM_001370433.1:c.822G>T, NM_001370439.1:c.807G>A, NM_001370439.1:c.807G>T, NM_001370441.1:c.807G>A, NM_001370441.1:c.807G>T, NM_001370442.1:c.651G>A, NM_001370442.1:c.651G>T, XM_006721339.5:c.822G>A, XM_006721339.5:c.822G>T, XM_006721339.4:c.822G>A, XM_006721339.4:c.822G>T, XM_006721339.3:c.822G>A, XM_006721339.3:c.822G>T, XM_006721339.2:c.822G>A, XM_006721339.2:c.822G>T, XM_006721339.1:c.822G>A, XM_006721339.1:c.822G>T, XM_005256242.5:c.822G>A, XM_005256242.5:c.822G>T, XM_005256242.4:c.822G>A, XM_005256242.4:c.822G>T, XM_005256242.3:c.822G>A, XM_005256242.3:c.822G>T, XM_005256242.2:c.822G>A, XM_005256242.2:c.822G>T, XM_005256242.1:c.822G>A, XM_005256242.1:c.822G>T, XM_005256241.5:c.822G>A, XM_005256241.5:c.822G>T, XM_005256241.4:c.822G>A, XM_005256241.4:c.822G>T, XM_005256241.3:c.822G>A, XM_005256241.3:c.822G>T, XM_005256241.2:c.822G>A, XM_005256241.2:c.822G>T, XM_005256241.1:c.822G>A, XM_005256241.1:c.822G>T, XM_005256240.5:c.822G>A, XM_005256240.5:c.822G>T, XM_005256240.4:c.822G>A, XM_005256240.4:c.822G>T, XM_005256240.3:c.822G>A, XM_005256240.3:c.822G>T, XM_005256240.2:c.822G>A, XM_005256240.2:c.822G>T, XM_005256240.1:c.822G>A, XM_005256240.1:c.822G>T, XM_006721340.4:c.822G>A, XM_006721340.4:c.822G>T, XM_006721340.3:c.822G>A, XM_006721340.3:c.822G>T, XM_006721340.2:c.822G>A, XM_006721340.2:c.822G>T, XM_006721340.1:c.822G>A, XM_006721340.1:c.822G>T, XM_005256244.4:c.822G>A, XM_005256244.4:c.822G>T, XM_005256244.3:c.822G>A, XM_005256244.3:c.822G>T, XM_005256244.2:c.822G>A, XM_005256244.2:c.822G>T, XM_005256244.1:c.822G>A, XM_005256244.1:c.822G>T, XM_005256239.3:c.822G>A, XM_005256239.3:c.822G>T, XM_005256239.2:c.822G>A, XM_005256239.2:c.822G>T, XM_005256239.1:c.822G>A, XM_005256239.1:c.822G>T, XM_006721338.3:c.822G>A, XM_006721338.3:c.822G>T, XM_006721338.2:c.822G>A, XM_006721338.2:c.822G>T, XM_006721338.1:c.822G>A, XM_006721338.1:c.822G>T, XM_005256238.3:c.822G>A, XM_005256238.3:c.822G>T, XM_005256238.2:c.822G>A, XM_005256238.2:c.822G>T, XM_005256238.1:c.822G>A, XM_005256238.1:c.822G>T, XM_005256246.3:c.807G>A, XM_005256246.3:c.807G>T, XM_005256246.2:c.807G>A, XM_005256246.2:c.807G>T, XM_005256246.1:c.807G>A, XM_005256246.1:c.807G>T, XM_006721342.3:c.807G>A, XM_006721342.3:c.807G>T, XM_006721342.2:c.807G>A, XM_006721342.2:c.807G>T, XM_006721342.1:c.807G>A, XM_006721342.1:c.807G>T, XM_006721347.3:c.822G>A, XM_006721347.3:c.822G>T, XM_006721347.2:c.822G>A, XM_006721347.2:c.822G>T, XM_006721347.1:c.822G>A, XM_006721347.1:c.822G>T, XM_005256255.3:c.807G>A, XM_005256255.3:c.807G>T, XM_005256255.2:c.807G>A, XM_005256255.2:c.807G>T, XM_005256255.1:c.807G>A, XM_005256255.1:c.807G>T, XM_011523462.3:c.822G>A, XM_011523462.3:c.822G>T, XM_011523462.2:c.822G>A, XM_011523462.2:c.822G>T, XM_011523462.1:c.822G>A, XM_011523462.1:c.822G>T, XM_011523466.3:c.807G>A, XM_011523466.3:c.807G>T, XM_011523466.2:c.807G>A, XM_011523466.2:c.807G>T, XM_011523466.1:c.807G>A, XM_011523466.1:c.807G>T, XM_005256245.3:c.822G>A, XM_005256245.3:c.822G>T, XM_005256245.2:c.822G>A, XM_005256245.2:c.822G>T, XM_005256245.1:c.822G>A, XM_005256245.1:c.822G>T, XM_005256254.3:c.807G>A, XM_005256254.3:c.807G>T, XM_005256254.2:c.807G>A, XM_005256254.2:c.807G>T, XM_005256254.1:c.807G>A, XM_005256254.1:c.807G>T, XM_005256237.3:c.822G>A, XM_005256237.3:c.822G>T, XM_005256237.2:c.822G>A, XM_005256237.2:c.822G>T, XM_005256237.1:c.822G>A, XM_005256237.1:c.822G>T, XM_005256248.3:c.807G>A, XM_005256248.3:c.807G>T, XM_005256248.2:c.807G>A, XM_005256248.2:c.807G>T, XM_005256248.1:c.807G>A, XM_005256248.1:c.807G>T, XM_005256252.3:c.807G>A, XM_005256252.3:c.807G>T, XM_005256252.2:c.807G>A, XM_005256252.2:c.807G>T, XM_005256252.1:c.807G>A, XM_005256252.1:c.807G>T, XM_011523468.3:c.807G>A, XM_011523468.3:c.807G>T, XM_011523468.2:c.807G>A, XM_011523468.2:c.807G>T, XM_011523468.1:c.807G>A, XM_011523468.1:c.807G>T, XM_017023892.2:c.807G>A, XM_017023892.2:c.807G>T, XM_017023892.1:c.807G>A, XM_017023892.1:c.807G>T, XM_047434909.1:c.822G>A, XM_047434909.1:c.822G>T, XM_047434911.1:c.822G>A, XM_047434911.1:c.822G>T, XM_047434907.1:c.822G>A, XM_047434907.1:c.822G>T, XM_047434906.1:c.822G>A, XM_047434906.1:c.822G>T, XM_047434913.1:c.807G>A, XM_047434913.1:c.807G>T, XM_047434910.1:c.822G>A, XM_047434910.1:c.822G>T, XM_047434908.1:c.822G>A, XM_047434908.1:c.822G>T, XM_047434914.1:c.807G>A, XM_047434914.1:c.807G>T, XM_047434912.1:c.822G>A, XM_047434912.1:c.822G>T, XM_047434915.1:c.807G>A, XM_047434915.1:c.807G>T, XM_047434916.1:c.807G>A, XM_047434916.1:c.807G>T

      3.

      rs1486644869 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:57655446 (GRCh38)
        16:57689358 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57655445:A:G
        Gene:
        ADGRG1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.57655446A>G, NC_000016.9:g.57689358A>G, NG_011643.1:g.40449A>G, NM_005682.7:c.816A>G, NM_005682.6:c.816A>G, NM_005682.5:c.816A>G, NM_201524.4:c.816A>G, NM_201524.3:c.816A>G, NM_201524.2:c.816A>G, NM_201525.4:c.816A>G, NM_201525.3:c.816A>G, NM_201525.2:c.816A>G, NM_001145772.3:c.816A>G, NM_001145772.2:c.816A>G, NM_001145772.1:c.816A>G, NM_001145771.3:c.816A>G, NM_001145771.2:c.816A>G, NM_001145771.1:c.816A>G, NM_001145774.3:c.816A>G, NM_001145774.2:c.816A>G, NM_001145774.1:c.816A>G, NM_001145770.3:c.816A>G, NM_001145770.2:c.816A>G, NM_001145770.1:c.816A>G, NM_001145773.3:c.831A>G, NM_001145773.2:c.831A>G, NM_001145773.1:c.831A>G, NM_001290144.2:c.291A>G, NM_001290144.1:c.291A>G, NM_001290143.2:c.291A>G, NM_001290143.1:c.291A>G, NM_001290142.2:c.306A>G, NM_001290142.1:c.306A>G, NM_001370428.1:c.816A>G, NM_001370440.1:c.816A>G, NM_001370436.1:c.816A>G, NM_001370453.1:c.291A>G, NM_001370431.1:c.816A>G, NM_001370434.1:c.816A>G, NM_001370451.1:c.291A>G, NM_001370437.1:c.816A>G, NM_001370429.1:c.816A>G, NM_001370430.1:c.816A>G, NM_001370438.1:c.816A>G, NM_001370454.1:c.291A>G, NM_001370435.1:c.816A>G, NM_001370432.1:c.816A>G, NM_001370433.1:c.831A>G, NM_001370439.1:c.816A>G, NM_001370441.1:c.816A>G, NM_001370442.1:c.660A>G, XM_006721339.5:c.831A>G, XM_006721339.4:c.831A>G, XM_006721339.3:c.831A>G, XM_006721339.2:c.831A>G, XM_006721339.1:c.831A>G, XM_005256242.5:c.831A>G, XM_005256242.4:c.831A>G, XM_005256242.3:c.831A>G, XM_005256242.2:c.831A>G, XM_005256242.1:c.831A>G, XM_005256241.5:c.831A>G, XM_005256241.4:c.831A>G, XM_005256241.3:c.831A>G, XM_005256241.2:c.831A>G, XM_005256241.1:c.831A>G, XM_005256240.5:c.831A>G, XM_005256240.4:c.831A>G, XM_005256240.3:c.831A>G, XM_005256240.2:c.831A>G, XM_005256240.1:c.831A>G, XM_006721340.4:c.831A>G, XM_006721340.3:c.831A>G, XM_006721340.2:c.831A>G, XM_006721340.1:c.831A>G, XM_005256244.4:c.831A>G, XM_005256244.3:c.831A>G, XM_005256244.2:c.831A>G, XM_005256244.1:c.831A>G, XM_005256239.3:c.831A>G, XM_005256239.2:c.831A>G, XM_005256239.1:c.831A>G, XM_006721338.3:c.831A>G, XM_006721338.2:c.831A>G, XM_006721338.1:c.831A>G, XM_005256238.3:c.831A>G, XM_005256238.2:c.831A>G, XM_005256238.1:c.831A>G, XM_005256246.3:c.816A>G, XM_005256246.2:c.816A>G, XM_005256246.1:c.816A>G, XM_006721342.3:c.816A>G, XM_006721342.2:c.816A>G, XM_006721342.1:c.816A>G, XM_006721347.3:c.831A>G, XM_006721347.2:c.831A>G, XM_006721347.1:c.831A>G, XM_005256255.3:c.816A>G, XM_005256255.2:c.816A>G, XM_005256255.1:c.816A>G, XM_011523462.3:c.831A>G, XM_011523462.2:c.831A>G, XM_011523462.1:c.831A>G, XM_011523466.3:c.816A>G, XM_011523466.2:c.816A>G, XM_011523466.1:c.816A>G, XM_005256245.3:c.831A>G, XM_005256245.2:c.831A>G, XM_005256245.1:c.831A>G, XM_005256254.3:c.816A>G, XM_005256254.2:c.816A>G, XM_005256254.1:c.816A>G, XM_005256237.3:c.831A>G, XM_005256237.2:c.831A>G, XM_005256237.1:c.831A>G, XM_005256248.3:c.816A>G, XM_005256248.2:c.816A>G, XM_005256248.1:c.816A>G, XM_005256252.3:c.816A>G, XM_005256252.2:c.816A>G, XM_005256252.1:c.816A>G, XM_011523468.3:c.816A>G, XM_011523468.2:c.816A>G, XM_011523468.1:c.816A>G, XM_017023892.2:c.816A>G, XM_017023892.1:c.816A>G, XM_047434909.1:c.831A>G, XM_047434911.1:c.831A>G, XM_047434907.1:c.831A>G, XM_047434906.1:c.831A>G, XM_047434913.1:c.816A>G, XM_047434910.1:c.831A>G, XM_047434908.1:c.831A>G, XM_047434914.1:c.816A>G, XM_047434912.1:c.831A>G, XM_047434915.1:c.816A>G, XM_047434916.1:c.816A>G

        4.

        rs1486215571 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:57651522 (GRCh38)
          16:57685434 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57651521:G:C
          Gene:
          ADGRG1 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.57651522G>C, NC_000016.9:g.57685434G>C, NG_011643.1:g.36525G>C, NM_005682.7:c.387G>C, NM_005682.6:c.387G>C, NM_005682.5:c.387G>C, NM_201524.4:c.387G>C, NM_201524.3:c.387G>C, NM_201524.2:c.387G>C, NM_201525.4:c.387G>C, NM_201525.3:c.387G>C, NM_201525.2:c.387G>C, NM_001145772.3:c.387G>C, NM_001145772.2:c.387G>C, NM_001145772.1:c.387G>C, NM_001145771.3:c.387G>C, NM_001145771.2:c.387G>C, NM_001145771.1:c.387G>C, NM_001145774.3:c.387G>C, NM_001145774.2:c.387G>C, NM_001145774.1:c.387G>C, NM_001145770.3:c.387G>C, NM_001145770.2:c.387G>C, NM_001145770.1:c.387G>C, NM_001145773.3:c.402G>C, NM_001145773.2:c.402G>C, NM_001145773.1:c.402G>C, NM_001290144.2:c.-139G>C, NM_001290144.1:c.-139G>C, NM_001290143.2:c.-139G>C, NM_001290143.1:c.-139G>C, NM_001370428.1:c.387G>C, NM_001370440.1:c.387G>C, NM_001370436.1:c.387G>C, NM_001370453.1:c.-139G>C, NM_001370431.1:c.387G>C, NM_001370434.1:c.387G>C, NM_001370451.1:c.-139G>C, NM_001370437.1:c.387G>C, NM_001370429.1:c.387G>C, NM_001370430.1:c.387G>C, NM_001370438.1:c.387G>C, NM_001370454.1:c.-139G>C, NM_001370435.1:c.387G>C, NM_001370432.1:c.387G>C, NM_001370433.1:c.402G>C, NM_001370439.1:c.387G>C, NM_001370441.1:c.387G>C, NM_001370442.1:c.231G>C, XM_006721339.5:c.402G>C, XM_006721339.4:c.402G>C, XM_006721339.3:c.402G>C, XM_006721339.2:c.402G>C, XM_006721339.1:c.402G>C, XM_005256242.5:c.402G>C, XM_005256242.4:c.402G>C, XM_005256242.3:c.402G>C, XM_005256242.2:c.402G>C, XM_005256242.1:c.402G>C, XM_005256241.5:c.402G>C, XM_005256241.4:c.402G>C, XM_005256241.3:c.402G>C, XM_005256241.2:c.402G>C, XM_005256241.1:c.402G>C, XM_005256240.5:c.402G>C, XM_005256240.4:c.402G>C, XM_005256240.3:c.402G>C, XM_005256240.2:c.402G>C, XM_005256240.1:c.402G>C, XM_006721340.4:c.402G>C, XM_006721340.3:c.402G>C, XM_006721340.2:c.402G>C, XM_006721340.1:c.402G>C, XM_005256244.4:c.402G>C, XM_005256244.3:c.402G>C, XM_005256244.2:c.402G>C, XM_005256244.1:c.402G>C, XM_005256239.3:c.402G>C, XM_005256239.2:c.402G>C, XM_005256239.1:c.402G>C, XM_006721338.3:c.402G>C, XM_006721338.2:c.402G>C, XM_006721338.1:c.402G>C, XM_005256238.3:c.402G>C, XM_005256238.2:c.402G>C, XM_005256238.1:c.402G>C, XM_005256246.3:c.387G>C, XM_005256246.2:c.387G>C, XM_005256246.1:c.387G>C, XM_006721342.3:c.387G>C, XM_006721342.2:c.387G>C, XM_006721342.1:c.387G>C, XM_006721347.3:c.402G>C, XM_006721347.2:c.402G>C, XM_006721347.1:c.402G>C, XM_005256255.3:c.387G>C, XM_005256255.2:c.387G>C, XM_005256255.1:c.387G>C, XM_011523462.3:c.402G>C, XM_011523462.2:c.402G>C, XM_011523462.1:c.402G>C, XM_011523466.3:c.387G>C, XM_011523466.2:c.387G>C, XM_011523466.1:c.387G>C, XM_005256245.3:c.402G>C, XM_005256245.2:c.402G>C, XM_005256245.1:c.402G>C, XM_005256254.3:c.387G>C, XM_005256254.2:c.387G>C, XM_005256254.1:c.387G>C, XM_005256237.3:c.402G>C, XM_005256237.2:c.402G>C, XM_005256237.1:c.402G>C, XM_005256248.3:c.387G>C, XM_005256248.2:c.387G>C, XM_005256248.1:c.387G>C, XM_005256252.3:c.387G>C, XM_005256252.2:c.387G>C, XM_005256252.1:c.387G>C, XM_011523468.3:c.387G>C, XM_011523468.2:c.387G>C, XM_011523468.1:c.387G>C, XM_017023892.2:c.387G>C, XM_017023892.1:c.387G>C, XM_047434909.1:c.402G>C, XM_047434911.1:c.402G>C, XM_047434907.1:c.402G>C, XM_047434906.1:c.402G>C, XM_047434913.1:c.387G>C, XM_047434910.1:c.402G>C, XM_047434908.1:c.402G>C, XM_047434914.1:c.387G>C, XM_047434912.1:c.402G>C, XM_047434915.1:c.387G>C, XM_047434916.1:c.387G>C

          5.

          rs1483090171 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            16:57661712 (GRCh38)
            16:57695624 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57661711:C:A
            Gene:
            ADGRG1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.57661712C>A, NC_000016.9:g.57695624C>A, NG_011643.1:g.46715C>A, NM_005682.7:c.1698C>A, NM_005682.6:c.1698C>A, NM_005682.5:c.1698C>A, NM_201524.4:c.1680C>A, NM_201524.3:c.1680C>A, NM_201524.2:c.1680C>A, NM_201525.4:c.1680C>A, NM_201525.3:c.1680C>A, NM_201525.2:c.1680C>A, NM_001145772.3:c.1680C>A, NM_001145772.2:c.1680C>A, NM_001145772.1:c.1680C>A, NM_001145771.3:c.1698C>A, NM_001145771.2:c.1698C>A, NM_001145771.1:c.1698C>A, NM_001145774.3:c.1680C>A, NM_001145774.2:c.1680C>A, NM_001145774.1:c.1680C>A, NM_001145770.3:c.1680C>A, NM_001145770.2:c.1680C>A, NM_001145770.1:c.1680C>A, NM_001145773.3:c.1695C>A, NM_001145773.2:c.1695C>A, NM_001145773.1:c.1695C>A, NM_001290144.2:c.1155C>A, NM_001290144.1:c.1155C>A, NM_001290143.2:c.1173C>A, NM_001290143.1:c.1173C>A, NM_001290142.2:c.1188C>A, NM_001290142.1:c.1188C>A, NM_001370428.1:c.1698C>A, NM_001370440.1:c.1680C>A, NM_001370436.1:c.1680C>A, NM_001370453.1:c.1155C>A, NM_001370431.1:c.1698C>A, NM_001370434.1:c.1695C>A, NM_001370451.1:c.1155C>A, NM_001370437.1:c.1680C>A, NM_001370429.1:c.1698C>A, NM_001370430.1:c.1698C>A, NM_001370438.1:c.1680C>A, NM_001370454.1:c.1155C>A, NM_001370435.1:c.1680C>A, NM_001370432.1:c.1698C>A, NM_001370433.1:c.1695C>A, NM_001370439.1:c.1680C>A, NM_001370441.1:c.1677C>A, NM_001370442.1:c.1524C>A, XM_006721339.5:c.1713C>A, XM_006721339.4:c.1713C>A, XM_006721339.3:c.1713C>A, XM_006721339.2:c.1713C>A, XM_006721339.1:c.1713C>A, XM_005256242.5:c.1713C>A, XM_005256242.4:c.1713C>A, XM_005256242.3:c.1713C>A, XM_005256242.2:c.1713C>A, XM_005256242.1:c.1713C>A, XM_005256241.5:c.1713C>A, XM_005256241.4:c.1713C>A, XM_005256241.3:c.1713C>A, XM_005256241.2:c.1713C>A, XM_005256241.1:c.1713C>A, XM_005256240.5:c.1713C>A, XM_005256240.4:c.1713C>A, XM_005256240.3:c.1713C>A, XM_005256240.2:c.1713C>A, XM_005256240.1:c.1713C>A, XM_006721340.4:c.1713C>A, XM_006721340.3:c.1713C>A, XM_006721340.2:c.1713C>A, XM_006721340.1:c.1713C>A, XM_005256244.4:c.1713C>A, XM_005256244.3:c.1713C>A, XM_005256244.2:c.1713C>A, XM_005256244.1:c.1713C>A, XM_005256239.3:c.1713C>A, XM_005256239.2:c.1713C>A, XM_005256239.1:c.1713C>A, XM_006721338.3:c.1713C>A, XM_006721338.2:c.1713C>A, XM_006721338.1:c.1713C>A, XM_005256238.3:c.1713C>A, XM_005256238.2:c.1713C>A, XM_005256238.1:c.1713C>A, XM_005256246.3:c.1698C>A, XM_005256246.2:c.1698C>A, XM_005256246.1:c.1698C>A, XM_006721342.3:c.1698C>A, XM_006721342.2:c.1698C>A, XM_006721342.1:c.1698C>A, XM_006721347.3:c.1695C>A, XM_006721347.2:c.1695C>A, XM_006721347.1:c.1695C>A, XM_005256255.3:c.1680C>A, XM_005256255.2:c.1680C>A, XM_005256255.1:c.1680C>A, XM_011523462.3:c.1713C>A, XM_011523462.2:c.1713C>A, XM_011523462.1:c.1713C>A, XM_011523466.3:c.1698C>A, XM_011523466.2:c.1698C>A, XM_011523466.1:c.1698C>A, XM_005256245.3:c.1713C>A, XM_005256245.2:c.1713C>A, XM_005256245.1:c.1713C>A, XM_005256254.3:c.1698C>A, XM_005256254.2:c.1698C>A, XM_005256254.1:c.1698C>A, XM_005256237.3:c.1713C>A, XM_005256237.2:c.1713C>A, XM_005256237.1:c.1713C>A, XM_005256248.3:c.1698C>A, XM_005256248.2:c.1698C>A, XM_005256248.1:c.1698C>A, XM_005256252.3:c.1698C>A, XM_005256252.2:c.1698C>A, XM_005256252.1:c.1698C>A, XM_011523468.3:c.1698C>A, XM_011523468.2:c.1698C>A, XM_011523468.1:c.1698C>A, XM_017023892.2:c.1680C>A, XM_017023892.1:c.1680C>A, XM_047434909.1:c.1695C>A, XM_047434911.1:c.1695C>A, XM_047434907.1:c.1695C>A, XM_047434906.1:c.1713C>A, XM_047434913.1:c.1680C>A, XM_047434910.1:c.1695C>A, XM_047434908.1:c.1695C>A, XM_047434914.1:c.1680C>A, XM_047434912.1:c.1695C>A, XM_047434915.1:c.1680C>A, XM_047434916.1:c.1680C>A, NP_005673.3:p.Asp566Glu, NP_958932.1:p.Asp560Glu, NP_958933.1:p.Asp560Glu, NP_001139244.1:p.Asp560Glu, NP_001139243.1:p.Asp566Glu, NP_001139246.1:p.Asp560Glu, NP_001139242.1:p.Asp560Glu, NP_001139245.1:p.Asp565Glu, NP_001277073.1:p.Asp385Glu, NP_001277072.1:p.Asp391Glu, NP_001277071.1:p.Asp396Glu, NP_001357357.1:p.Asp566Glu, NP_001357369.1:p.Asp560Glu, NP_001357365.1:p.Asp560Glu, NP_001357382.1:p.Asp385Glu, NP_001357360.1:p.Asp566Glu, NP_001357363.1:p.Asp565Glu, NP_001357380.1:p.Asp385Glu, NP_001357366.1:p.Asp560Glu, NP_001357358.1:p.Asp566Glu, NP_001357359.1:p.Asp566Glu, NP_001357367.1:p.Asp560Glu, NP_001357383.1:p.Asp385Glu, NP_001357364.1:p.Asp560Glu, NP_001357361.1:p.Asp566Glu, NP_001357362.1:p.Asp565Glu, NP_001357368.1:p.Asp560Glu, NP_001357370.1:p.Asp559Glu, NP_001357371.1:p.Asp508Glu, XP_006721402.1:p.Asp571Glu, XP_005256299.1:p.Asp571Glu, XP_005256298.1:p.Asp571Glu, XP_005256297.1:p.Asp571Glu, XP_006721403.1:p.Asp571Glu, XP_005256301.1:p.Asp571Glu, XP_005256296.1:p.Asp571Glu, XP_006721401.1:p.Asp571Glu, XP_005256295.1:p.Asp571Glu, XP_005256303.1:p.Asp566Glu, XP_006721405.1:p.Asp566Glu, XP_006721410.1:p.Asp565Glu, XP_005256312.1:p.Asp560Glu, XP_011521764.1:p.Asp571Glu, XP_011521768.1:p.Asp566Glu, XP_005256302.1:p.Asp571Glu, XP_005256311.1:p.Asp566Glu, XP_005256294.1:p.Asp571Glu, XP_005256305.1:p.Asp566Glu, XP_005256309.1:p.Asp566Glu, XP_011521770.1:p.Asp566Glu, XP_016879381.1:p.Asp560Glu, XP_047290865.1:p.Asp565Glu, XP_047290867.1:p.Asp565Glu, XP_047290863.1:p.Asp565Glu, XP_047290862.1:p.Asp571Glu, XP_047290869.1:p.Asp560Glu, XP_047290866.1:p.Asp565Glu, XP_047290864.1:p.Asp565Glu, XP_047290870.1:p.Asp560Glu, XP_047290868.1:p.Asp565Glu, XP_047290871.1:p.Asp560Glu, XP_047290872.1:p.Asp560Glu

            6.

            rs1472183013 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:57651202 (GRCh38)
              16:57685114 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57651201:G:A
              Gene:
              ADGRG1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_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_000016.10:g.57651202G>A, NC_000016.9:g.57685114G>A, NG_011643.1:g.36205G>A, NM_005682.7:c.67G>A, NM_005682.6:c.67G>A, NM_005682.5:c.67G>A, NM_201524.4:c.67G>A, NM_201524.3:c.67G>A, NM_201524.2:c.67G>A, NM_201525.4:c.67G>A, NM_201525.3:c.67G>A, NM_201525.2:c.67G>A, NM_001145772.3:c.67G>A, NM_001145772.2:c.67G>A, NM_001145772.1:c.67G>A, NM_001145771.3:c.67G>A, NM_001145771.2:c.67G>A, NM_001145771.1:c.67G>A, NM_001145774.3:c.67G>A, NM_001145774.2:c.67G>A, NM_001145774.1:c.67G>A, NM_001145770.3:c.67G>A, NM_001145770.2:c.67G>A, NM_001145770.1:c.67G>A, NM_001145773.3:c.82G>A, NM_001145773.2:c.82G>A, NM_001145773.1:c.82G>A, NM_001290142.2:c.67G>A, NM_001290142.1:c.67G>A, NM_001370428.1:c.67G>A, NM_001370440.1:c.67G>A, NM_001370436.1:c.67G>A, NM_001370453.1:c.-459G>A, NM_001370431.1:c.67G>A, NM_001370434.1:c.67G>A, NM_001370437.1:c.67G>A, NM_001370429.1:c.67G>A, NM_001370430.1:c.67G>A, NM_001370438.1:c.67G>A, NM_001370435.1:c.67G>A, NM_001370432.1:c.67G>A, NM_001370433.1:c.82G>A, NM_001370439.1:c.67G>A, NM_001370441.1:c.67G>A, XM_006721339.5:c.82G>A, XM_006721339.4:c.82G>A, XM_006721339.3:c.82G>A, XM_006721339.2:c.82G>A, XM_006721339.1:c.82G>A, XM_005256242.5:c.82G>A, XM_005256242.4:c.82G>A, XM_005256242.3:c.82G>A, XM_005256242.2:c.82G>A, XM_005256242.1:c.82G>A, XM_005256241.5:c.82G>A, XM_005256241.4:c.82G>A, XM_005256241.3:c.82G>A, XM_005256241.2:c.82G>A, XM_005256241.1:c.82G>A, XM_005256240.5:c.82G>A, XM_005256240.4:c.82G>A, XM_005256240.3:c.82G>A, XM_005256240.2:c.82G>A, XM_005256240.1:c.82G>A, XM_006721340.4:c.82G>A, XM_006721340.3:c.82G>A, XM_006721340.2:c.82G>A, XM_006721340.1:c.82G>A, XM_005256244.4:c.82G>A, XM_005256244.3:c.82G>A, XM_005256244.2:c.82G>A, XM_005256244.1:c.82G>A, XM_005256239.3:c.82G>A, XM_005256239.2:c.82G>A, XM_005256239.1:c.82G>A, XM_006721338.3:c.82G>A, XM_006721338.2:c.82G>A, XM_006721338.1:c.82G>A, XM_005256238.3:c.82G>A, XM_005256238.2:c.82G>A, XM_005256238.1:c.82G>A, XM_005256246.3:c.67G>A, XM_005256246.2:c.67G>A, XM_005256246.1:c.67G>A, XM_006721342.3:c.67G>A, XM_006721342.2:c.67G>A, XM_006721342.1:c.67G>A, XM_006721347.3:c.82G>A, XM_006721347.2:c.82G>A, XM_006721347.1:c.82G>A, XM_005256255.3:c.67G>A, XM_005256255.2:c.67G>A, XM_005256255.1:c.67G>A, XM_011523462.3:c.82G>A, XM_011523462.2:c.82G>A, XM_011523462.1:c.82G>A, XM_011523466.3:c.67G>A, XM_011523466.2:c.67G>A, XM_011523466.1:c.67G>A, XM_005256245.3:c.82G>A, XM_005256245.2:c.82G>A, XM_005256245.1:c.82G>A, XM_005256254.3:c.67G>A, XM_005256254.2:c.67G>A, XM_005256254.1:c.67G>A, XM_005256237.3:c.82G>A, XM_005256237.2:c.82G>A, XM_005256237.1:c.82G>A, XM_005256248.3:c.67G>A, XM_005256248.2:c.67G>A, XM_005256248.1:c.67G>A, XM_005256252.3:c.67G>A, XM_005256252.2:c.67G>A, XM_005256252.1:c.67G>A, XM_011523468.3:c.67G>A, XM_011523468.2:c.67G>A, XM_011523468.1:c.67G>A, XM_017023892.2:c.67G>A, XM_017023892.1:c.67G>A, XM_047434909.1:c.82G>A, XM_047434911.1:c.82G>A, XM_047434907.1:c.82G>A, XM_047434906.1:c.82G>A, XM_047434913.1:c.67G>A, XM_047434910.1:c.82G>A, XM_047434908.1:c.82G>A, XM_047434914.1:c.67G>A, XM_047434912.1:c.82G>A, XM_047434915.1:c.67G>A, XM_047434916.1:c.67G>A, NP_005673.3:p.Ala23Thr, NP_958932.1:p.Ala23Thr, NP_958933.1:p.Ala23Thr, NP_001139244.1:p.Ala23Thr, NP_001139243.1:p.Ala23Thr, NP_001139246.1:p.Ala23Thr, NP_001139242.1:p.Ala23Thr, NP_001139245.1:p.Ala28Thr, NP_001277071.1:p.Ala23Thr, NP_001357357.1:p.Ala23Thr, NP_001357369.1:p.Ala23Thr, NP_001357365.1:p.Ala23Thr, NP_001357360.1:p.Ala23Thr, NP_001357363.1:p.Ala23Thr, NP_001357366.1:p.Ala23Thr, NP_001357358.1:p.Ala23Thr, NP_001357359.1:p.Ala23Thr, NP_001357367.1:p.Ala23Thr, NP_001357364.1:p.Ala23Thr, NP_001357361.1:p.Ala23Thr, NP_001357362.1:p.Ala28Thr, NP_001357368.1:p.Ala23Thr, NP_001357370.1:p.Ala23Thr, XP_006721402.1:p.Ala28Thr, XP_005256299.1:p.Ala28Thr, XP_005256298.1:p.Ala28Thr, XP_005256297.1:p.Ala28Thr, XP_006721403.1:p.Ala28Thr, XP_005256301.1:p.Ala28Thr, XP_005256296.1:p.Ala28Thr, XP_006721401.1:p.Ala28Thr, XP_005256295.1:p.Ala28Thr, XP_005256303.1:p.Ala23Thr, XP_006721405.1:p.Ala23Thr, XP_006721410.1:p.Ala28Thr, XP_005256312.1:p.Ala23Thr, XP_011521764.1:p.Ala28Thr, XP_011521768.1:p.Ala23Thr, XP_005256302.1:p.Ala28Thr, XP_005256311.1:p.Ala23Thr, XP_005256294.1:p.Ala28Thr, XP_005256305.1:p.Ala23Thr, XP_005256309.1:p.Ala23Thr, XP_011521770.1:p.Ala23Thr, XP_016879381.1:p.Ala23Thr, XP_047290865.1:p.Ala28Thr, XP_047290867.1:p.Ala28Thr, XP_047290863.1:p.Ala28Thr, XP_047290862.1:p.Ala28Thr, XP_047290869.1:p.Ala23Thr, XP_047290866.1:p.Ala28Thr, XP_047290864.1:p.Ala28Thr, XP_047290870.1:p.Ala23Thr, XP_047290868.1:p.Ala28Thr, XP_047290871.1:p.Ala23Thr, XP_047290872.1:p.Ala23Thr

              7.

              rs1470700508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:57657443 (GRCh38)
                16:57691355 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57657442:T:C
                Gene:
                ADGRG1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.57657443T>C, NC_000016.9:g.57691355T>C, NG_011643.1:g.42446T>C, NM_005682.7:c.1238T>C, NM_005682.6:c.1238T>C, NM_005682.5:c.1238T>C, NM_201524.4:c.1238T>C, NM_201524.3:c.1238T>C, NM_201524.2:c.1238T>C, NM_201525.4:c.1238T>C, NM_201525.3:c.1238T>C, NM_201525.2:c.1238T>C, NM_001145772.3:c.1238T>C, NM_001145772.2:c.1238T>C, NM_001145772.1:c.1238T>C, NM_001145771.3:c.1238T>C, NM_001145771.2:c.1238T>C, NM_001145771.1:c.1238T>C, NM_001145774.3:c.1238T>C, NM_001145774.2:c.1238T>C, NM_001145774.1:c.1238T>C, NM_001145770.3:c.1238T>C, NM_001145770.2:c.1238T>C, NM_001145770.1:c.1238T>C, NM_001145773.3:c.1253T>C, NM_001145773.2:c.1253T>C, NM_001145773.1:c.1253T>C, NM_001290144.2:c.713T>C, NM_001290144.1:c.713T>C, NM_001290143.2:c.713T>C, NM_001290143.1:c.713T>C, NM_001290142.2:c.728T>C, NM_001290142.1:c.728T>C, NM_001370428.1:c.1238T>C, NM_001370440.1:c.1238T>C, NM_001370436.1:c.1238T>C, NM_001370453.1:c.713T>C, NM_001370431.1:c.1238T>C, NM_001370434.1:c.1235T>C, NM_001370451.1:c.713T>C, NM_001370437.1:c.1238T>C, NM_001370429.1:c.1238T>C, NM_001370430.1:c.1238T>C, NM_001370438.1:c.1238T>C, NM_001370454.1:c.713T>C, NM_001370435.1:c.1238T>C, NM_001370432.1:c.1238T>C, NM_001370433.1:c.1253T>C, NM_001370439.1:c.1238T>C, NM_001370441.1:c.1235T>C, NM_001370442.1:c.1082T>C, XM_006721339.5:c.1253T>C, XM_006721339.4:c.1253T>C, XM_006721339.3:c.1253T>C, XM_006721339.2:c.1253T>C, XM_006721339.1:c.1253T>C, XM_005256242.5:c.1253T>C, XM_005256242.4:c.1253T>C, XM_005256242.3:c.1253T>C, XM_005256242.2:c.1253T>C, XM_005256242.1:c.1253T>C, XM_005256241.5:c.1253T>C, XM_005256241.4:c.1253T>C, XM_005256241.3:c.1253T>C, XM_005256241.2:c.1253T>C, XM_005256241.1:c.1253T>C, XM_005256240.5:c.1253T>C, XM_005256240.4:c.1253T>C, XM_005256240.3:c.1253T>C, XM_005256240.2:c.1253T>C, XM_005256240.1:c.1253T>C, XM_006721340.4:c.1253T>C, XM_006721340.3:c.1253T>C, XM_006721340.2:c.1253T>C, XM_006721340.1:c.1253T>C, XM_005256244.4:c.1253T>C, XM_005256244.3:c.1253T>C, XM_005256244.2:c.1253T>C, XM_005256244.1:c.1253T>C, XM_005256239.3:c.1253T>C, XM_005256239.2:c.1253T>C, XM_005256239.1:c.1253T>C, XM_006721338.3:c.1253T>C, XM_006721338.2:c.1253T>C, XM_006721338.1:c.1253T>C, XM_005256238.3:c.1253T>C, XM_005256238.2:c.1253T>C, XM_005256238.1:c.1253T>C, XM_005256246.3:c.1238T>C, XM_005256246.2:c.1238T>C, XM_005256246.1:c.1238T>C, XM_006721342.3:c.1238T>C, XM_006721342.2:c.1238T>C, XM_006721342.1:c.1238T>C, XM_006721347.3:c.1253T>C, XM_006721347.2:c.1253T>C, XM_006721347.1:c.1253T>C, XM_005256255.3:c.1238T>C, XM_005256255.2:c.1238T>C, XM_005256255.1:c.1238T>C, XM_011523462.3:c.1253T>C, XM_011523462.2:c.1253T>C, XM_011523462.1:c.1253T>C, XM_011523466.3:c.1238T>C, XM_011523466.2:c.1238T>C, XM_011523466.1:c.1238T>C, XM_005256245.3:c.1253T>C, XM_005256245.2:c.1253T>C, XM_005256245.1:c.1253T>C, XM_005256254.3:c.1238T>C, XM_005256254.2:c.1238T>C, XM_005256254.1:c.1238T>C, XM_005256237.3:c.1253T>C, XM_005256237.2:c.1253T>C, XM_005256237.1:c.1253T>C, XM_005256248.3:c.1238T>C, XM_005256248.2:c.1238T>C, XM_005256248.1:c.1238T>C, XM_005256252.3:c.1238T>C, XM_005256252.2:c.1238T>C, XM_005256252.1:c.1238T>C, XM_011523468.3:c.1238T>C, XM_011523468.2:c.1238T>C, XM_011523468.1:c.1238T>C, XM_017023892.2:c.1238T>C, XM_017023892.1:c.1238T>C, XM_047434909.1:c.1253T>C, XM_047434911.1:c.1253T>C, XM_047434907.1:c.1253T>C, XM_047434906.1:c.1253T>C, XM_047434913.1:c.1238T>C, XM_047434910.1:c.1253T>C, XM_047434908.1:c.1253T>C, XM_047434914.1:c.1238T>C, XM_047434912.1:c.1253T>C, XM_047434915.1:c.1238T>C, XM_047434916.1:c.1238T>C, NP_005673.3:p.Val413Ala, NP_958932.1:p.Val413Ala, NP_958933.1:p.Val413Ala, NP_001139244.1:p.Val413Ala, NP_001139243.1:p.Val413Ala, NP_001139246.1:p.Val413Ala, NP_001139242.1:p.Val413Ala, NP_001139245.1:p.Val418Ala, NP_001277073.1:p.Val238Ala, NP_001277072.1:p.Val238Ala, NP_001277071.1:p.Val243Ala, NP_001357357.1:p.Val413Ala, NP_001357369.1:p.Val413Ala, NP_001357365.1:p.Val413Ala, NP_001357382.1:p.Val238Ala, NP_001357360.1:p.Val413Ala, NP_001357363.1:p.Val412Ala, NP_001357380.1:p.Val238Ala, NP_001357366.1:p.Val413Ala, NP_001357358.1:p.Val413Ala, NP_001357359.1:p.Val413Ala, NP_001357367.1:p.Val413Ala, NP_001357383.1:p.Val238Ala, NP_001357364.1:p.Val413Ala, NP_001357361.1:p.Val413Ala, NP_001357362.1:p.Val418Ala, NP_001357368.1:p.Val413Ala, NP_001357370.1:p.Val412Ala, NP_001357371.1:p.Val361Ala, XP_006721402.1:p.Val418Ala, XP_005256299.1:p.Val418Ala, XP_005256298.1:p.Val418Ala, XP_005256297.1:p.Val418Ala, XP_006721403.1:p.Val418Ala, XP_005256301.1:p.Val418Ala, XP_005256296.1:p.Val418Ala, XP_006721401.1:p.Val418Ala, XP_005256295.1:p.Val418Ala, XP_005256303.1:p.Val413Ala, XP_006721405.1:p.Val413Ala, XP_006721410.1:p.Val418Ala, XP_005256312.1:p.Val413Ala, XP_011521764.1:p.Val418Ala, XP_011521768.1:p.Val413Ala, XP_005256302.1:p.Val418Ala, XP_005256311.1:p.Val413Ala, XP_005256294.1:p.Val418Ala, XP_005256305.1:p.Val413Ala, XP_005256309.1:p.Val413Ala, XP_011521770.1:p.Val413Ala, XP_016879381.1:p.Val413Ala, XP_047290865.1:p.Val418Ala, XP_047290867.1:p.Val418Ala, XP_047290863.1:p.Val418Ala, XP_047290862.1:p.Val418Ala, XP_047290869.1:p.Val413Ala, XP_047290866.1:p.Val418Ala, XP_047290864.1:p.Val418Ala, XP_047290870.1:p.Val413Ala, XP_047290868.1:p.Val418Ala, XP_047290871.1:p.Val413Ala, XP_047290872.1:p.Val413Ala

                8.

                rs1468990925 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:57661951 (GRCh38)
                  16:57695863 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57661950:T:C
                  Gene:
                  ADGRG1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.57661951T>C, NC_000016.9:g.57695863T>C, NG_011643.1:g.46954T>C, NM_005682.7:c.1937T>C, NM_005682.6:c.1937T>C, NM_005682.5:c.1937T>C, NM_201524.4:c.1919T>C, NM_201524.3:c.1919T>C, NM_201524.2:c.1919T>C, NM_201525.4:c.1919T>C, NM_201525.3:c.1919T>C, NM_201525.2:c.1919T>C, NM_001145772.3:c.1919T>C, NM_001145772.2:c.1919T>C, NM_001145772.1:c.1919T>C, NM_001145771.3:c.1937T>C, NM_001145771.2:c.1937T>C, NM_001145771.1:c.1937T>C, NM_001145774.3:c.1919T>C, NM_001145774.2:c.1919T>C, NM_001145774.1:c.1919T>C, NM_001145770.3:c.1919T>C, NM_001145770.2:c.1919T>C, NM_001145770.1:c.1919T>C, NM_001145773.3:c.1934T>C, NM_001145773.2:c.1934T>C, NM_001145773.1:c.1934T>C, NM_001290144.2:c.1394T>C, NM_001290144.1:c.1394T>C, NM_001290143.2:c.1412T>C, NM_001290143.1:c.1412T>C, NM_001290142.2:c.1427T>C, NM_001290142.1:c.1427T>C, NM_001370428.1:c.1937T>C, NM_001370440.1:c.1919T>C, NM_001370436.1:c.1919T>C, NM_001370453.1:c.1394T>C, NM_001370431.1:c.1937T>C, NM_001370434.1:c.1934T>C, NM_001370451.1:c.1394T>C, NM_001370437.1:c.1919T>C, NM_001370429.1:c.1937T>C, NM_001370430.1:c.1937T>C, NM_001370438.1:c.1919T>C, NM_001370454.1:c.1394T>C, NM_001370435.1:c.1919T>C, NM_001370432.1:c.1937T>C, NM_001370433.1:c.1934T>C, NM_001370439.1:c.1919T>C, NM_001370441.1:c.1916T>C, NM_001370442.1:c.1763T>C, XM_006721339.5:c.1952T>C, XM_006721339.4:c.1952T>C, XM_006721339.3:c.1952T>C, XM_006721339.2:c.1952T>C, XM_006721339.1:c.1952T>C, XM_005256242.5:c.1952T>C, XM_005256242.4:c.1952T>C, XM_005256242.3:c.1952T>C, XM_005256242.2:c.1952T>C, XM_005256242.1:c.1952T>C, XM_005256241.5:c.1952T>C, XM_005256241.4:c.1952T>C, XM_005256241.3:c.1952T>C, XM_005256241.2:c.1952T>C, XM_005256241.1:c.1952T>C, XM_005256240.5:c.1952T>C, XM_005256240.4:c.1952T>C, XM_005256240.3:c.1952T>C, XM_005256240.2:c.1952T>C, XM_005256240.1:c.1952T>C, XM_006721340.4:c.1952T>C, XM_006721340.3:c.1952T>C, XM_006721340.2:c.1952T>C, XM_006721340.1:c.1952T>C, XM_005256244.4:c.1952T>C, XM_005256244.3:c.1952T>C, XM_005256244.2:c.1952T>C, XM_005256244.1:c.1952T>C, XM_005256239.3:c.1952T>C, XM_005256239.2:c.1952T>C, XM_005256239.1:c.1952T>C, XM_006721338.3:c.1952T>C, XM_006721338.2:c.1952T>C, XM_006721338.1:c.1952T>C, XM_005256238.3:c.1952T>C, XM_005256238.2:c.1952T>C, XM_005256238.1:c.1952T>C, XM_005256246.3:c.1937T>C, XM_005256246.2:c.1937T>C, XM_005256246.1:c.1937T>C, XM_006721342.3:c.1937T>C, XM_006721342.2:c.1937T>C, XM_006721342.1:c.1937T>C, XM_006721347.3:c.1934T>C, XM_006721347.2:c.1934T>C, XM_006721347.1:c.1934T>C, XM_005256255.3:c.1919T>C, XM_005256255.2:c.1919T>C, XM_005256255.1:c.1919T>C, XM_011523462.3:c.1952T>C, XM_011523462.2:c.1952T>C, XM_011523462.1:c.1952T>C, XM_011523466.3:c.1937T>C, XM_011523466.2:c.1937T>C, XM_011523466.1:c.1937T>C, XM_005256245.3:c.1952T>C, XM_005256245.2:c.1952T>C, XM_005256245.1:c.1952T>C, XM_005256254.3:c.1937T>C, XM_005256254.2:c.1937T>C, XM_005256254.1:c.1937T>C, XM_005256237.3:c.1952T>C, XM_005256237.2:c.1952T>C, XM_005256237.1:c.1952T>C, XM_005256248.3:c.1937T>C, XM_005256248.2:c.1937T>C, XM_005256248.1:c.1937T>C, XM_005256252.3:c.1937T>C, XM_005256252.2:c.1937T>C, XM_005256252.1:c.1937T>C, XM_011523468.3:c.1937T>C, XM_011523468.2:c.1937T>C, XM_011523468.1:c.1937T>C, XM_017023892.2:c.1919T>C, XM_017023892.1:c.1919T>C, XM_047434909.1:c.1934T>C, XM_047434911.1:c.1934T>C, XM_047434907.1:c.1934T>C, XM_047434906.1:c.1952T>C, XM_047434913.1:c.1919T>C, XM_047434910.1:c.1934T>C, XM_047434908.1:c.1934T>C, XM_047434914.1:c.1919T>C, XM_047434912.1:c.1934T>C, XM_047434915.1:c.1919T>C, XM_047434916.1:c.1919T>C, NP_005673.3:p.Ile646Thr, NP_958932.1:p.Ile640Thr, NP_958933.1:p.Ile640Thr, NP_001139244.1:p.Ile640Thr, NP_001139243.1:p.Ile646Thr, NP_001139246.1:p.Ile640Thr, NP_001139242.1:p.Ile640Thr, NP_001139245.1:p.Ile645Thr, NP_001277073.1:p.Ile465Thr, NP_001277072.1:p.Ile471Thr, NP_001277071.1:p.Ile476Thr, NP_001357357.1:p.Ile646Thr, NP_001357369.1:p.Ile640Thr, NP_001357365.1:p.Ile640Thr, NP_001357382.1:p.Ile465Thr, NP_001357360.1:p.Ile646Thr, NP_001357363.1:p.Ile645Thr, NP_001357380.1:p.Ile465Thr, NP_001357366.1:p.Ile640Thr, NP_001357358.1:p.Ile646Thr, NP_001357359.1:p.Ile646Thr, NP_001357367.1:p.Ile640Thr, NP_001357383.1:p.Ile465Thr, NP_001357364.1:p.Ile640Thr, NP_001357361.1:p.Ile646Thr, NP_001357362.1:p.Ile645Thr, NP_001357368.1:p.Ile640Thr, NP_001357370.1:p.Ile639Thr, NP_001357371.1:p.Ile588Thr, XP_006721402.1:p.Ile651Thr, XP_005256299.1:p.Ile651Thr, XP_005256298.1:p.Ile651Thr, XP_005256297.1:p.Ile651Thr, XP_006721403.1:p.Ile651Thr, XP_005256301.1:p.Ile651Thr, XP_005256296.1:p.Ile651Thr, XP_006721401.1:p.Ile651Thr, XP_005256295.1:p.Ile651Thr, XP_005256303.1:p.Ile646Thr, XP_006721405.1:p.Ile646Thr, XP_006721410.1:p.Ile645Thr, XP_005256312.1:p.Ile640Thr, XP_011521764.1:p.Ile651Thr, XP_011521768.1:p.Ile646Thr, XP_005256302.1:p.Ile651Thr, XP_005256311.1:p.Ile646Thr, XP_005256294.1:p.Ile651Thr, XP_005256305.1:p.Ile646Thr, XP_005256309.1:p.Ile646Thr, XP_011521770.1:p.Ile646Thr, XP_016879381.1:p.Ile640Thr, XP_047290865.1:p.Ile645Thr, XP_047290867.1:p.Ile645Thr, XP_047290863.1:p.Ile645Thr, XP_047290862.1:p.Ile651Thr, XP_047290869.1:p.Ile640Thr, XP_047290866.1:p.Ile645Thr, XP_047290864.1:p.Ile645Thr, XP_047290870.1:p.Ile640Thr, XP_047290868.1:p.Ile645Thr, XP_047290871.1:p.Ile640Thr, XP_047290872.1:p.Ile640Thr

                  9.

                  rs1468479668 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:57656240 (GRCh38)
                    16:57690152 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57656239:G:A
                    Gene:
                    ADGRG1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000016.10:g.57656240G>A, NC_000016.9:g.57690152G>A, NG_011643.1:g.41243G>A, NM_005682.7:c.1032G>A, NM_005682.6:c.1032G>A, NM_005682.5:c.1032G>A, NM_201524.4:c.1032G>A, NM_201524.3:c.1032G>A, NM_201524.2:c.1032G>A, NM_201525.4:c.1032G>A, NM_201525.3:c.1032G>A, NM_201525.2:c.1032G>A, NM_001145772.3:c.1032G>A, NM_001145772.2:c.1032G>A, NM_001145772.1:c.1032G>A, NM_001145771.3:c.1032G>A, NM_001145771.2:c.1032G>A, NM_001145771.1:c.1032G>A, NM_001145774.3:c.1032G>A, NM_001145774.2:c.1032G>A, NM_001145774.1:c.1032G>A, NM_001145770.3:c.1032G>A, NM_001145770.2:c.1032G>A, NM_001145770.1:c.1032G>A, NM_001145773.3:c.1047G>A, NM_001145773.2:c.1047G>A, NM_001145773.1:c.1047G>A, NM_001290144.2:c.507G>A, NM_001290144.1:c.507G>A, NM_001290143.2:c.507G>A, NM_001290143.1:c.507G>A, NM_001290142.2:c.522G>A, NM_001290142.1:c.522G>A, NM_001370428.1:c.1032G>A, NM_001370440.1:c.1032G>A, NM_001370436.1:c.1032G>A, NM_001370453.1:c.507G>A, NM_001370431.1:c.1032G>A, NM_001370434.1:c.1029G>A, NM_001370451.1:c.507G>A, NM_001370437.1:c.1032G>A, NM_001370429.1:c.1032G>A, NM_001370430.1:c.1032G>A, NM_001370438.1:c.1032G>A, NM_001370454.1:c.507G>A, NM_001370435.1:c.1032G>A, NM_001370432.1:c.1032G>A, NM_001370433.1:c.1047G>A, NM_001370439.1:c.1032G>A, NM_001370441.1:c.1029G>A, NM_001370442.1:c.876G>A, XM_006721339.5:c.1047G>A, XM_006721339.4:c.1047G>A, XM_006721339.3:c.1047G>A, XM_006721339.2:c.1047G>A, XM_006721339.1:c.1047G>A, XM_005256242.5:c.1047G>A, XM_005256242.4:c.1047G>A, XM_005256242.3:c.1047G>A, XM_005256242.2:c.1047G>A, XM_005256242.1:c.1047G>A, XM_005256241.5:c.1047G>A, XM_005256241.4:c.1047G>A, XM_005256241.3:c.1047G>A, XM_005256241.2:c.1047G>A, XM_005256241.1:c.1047G>A, XM_005256240.5:c.1047G>A, XM_005256240.4:c.1047G>A, XM_005256240.3:c.1047G>A, XM_005256240.2:c.1047G>A, XM_005256240.1:c.1047G>A, XM_006721340.4:c.1047G>A, XM_006721340.3:c.1047G>A, XM_006721340.2:c.1047G>A, XM_006721340.1:c.1047G>A, XM_005256244.4:c.1047G>A, XM_005256244.3:c.1047G>A, XM_005256244.2:c.1047G>A, XM_005256244.1:c.1047G>A, XM_005256239.3:c.1047G>A, XM_005256239.2:c.1047G>A, XM_005256239.1:c.1047G>A, XM_006721338.3:c.1047G>A, XM_006721338.2:c.1047G>A, XM_006721338.1:c.1047G>A, XM_005256238.3:c.1047G>A, XM_005256238.2:c.1047G>A, XM_005256238.1:c.1047G>A, XM_005256246.3:c.1032G>A, XM_005256246.2:c.1032G>A, XM_005256246.1:c.1032G>A, XM_006721342.3:c.1032G>A, XM_006721342.2:c.1032G>A, XM_006721342.1:c.1032G>A, XM_006721347.3:c.1047G>A, XM_006721347.2:c.1047G>A, XM_006721347.1:c.1047G>A, XM_005256255.3:c.1032G>A, XM_005256255.2:c.1032G>A, XM_005256255.1:c.1032G>A, XM_011523462.3:c.1047G>A, XM_011523462.2:c.1047G>A, XM_011523462.1:c.1047G>A, XM_011523466.3:c.1032G>A, XM_011523466.2:c.1032G>A, XM_011523466.1:c.1032G>A, XM_005256245.3:c.1047G>A, XM_005256245.2:c.1047G>A, XM_005256245.1:c.1047G>A, XM_005256254.3:c.1032G>A, XM_005256254.2:c.1032G>A, XM_005256254.1:c.1032G>A, XM_005256237.3:c.1047G>A, XM_005256237.2:c.1047G>A, XM_005256237.1:c.1047G>A, XM_005256248.3:c.1032G>A, XM_005256248.2:c.1032G>A, XM_005256248.1:c.1032G>A, XM_005256252.3:c.1032G>A, XM_005256252.2:c.1032G>A, XM_005256252.1:c.1032G>A, XM_011523468.3:c.1032G>A, XM_011523468.2:c.1032G>A, XM_011523468.1:c.1032G>A, XM_017023892.2:c.1032G>A, XM_017023892.1:c.1032G>A, XM_047434909.1:c.1047G>A, XM_047434911.1:c.1047G>A, XM_047434907.1:c.1047G>A, XM_047434906.1:c.1047G>A, XM_047434913.1:c.1032G>A, XM_047434910.1:c.1047G>A, XM_047434908.1:c.1047G>A, XM_047434914.1:c.1032G>A, XM_047434912.1:c.1047G>A, XM_047434915.1:c.1032G>A, XM_047434916.1:c.1032G>A

                    10.

                    rs1468340075 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:57657462 (GRCh38)
                      16:57691374 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57657461:T:C
                      Gene:
                      ADGRG1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.57657462T>C, NC_000016.9:g.57691374T>C, NG_011643.1:g.42465T>C, NM_005682.7:c.1257T>C, NM_005682.6:c.1257T>C, NM_005682.5:c.1257T>C, NM_201524.4:c.1257T>C, NM_201524.3:c.1257T>C, NM_201524.2:c.1257T>C, NM_201525.4:c.1257T>C, NM_201525.3:c.1257T>C, NM_201525.2:c.1257T>C, NM_001145772.3:c.1257T>C, NM_001145772.2:c.1257T>C, NM_001145772.1:c.1257T>C, NM_001145771.3:c.1257T>C, NM_001145771.2:c.1257T>C, NM_001145771.1:c.1257T>C, NM_001145774.3:c.1257T>C, NM_001145774.2:c.1257T>C, NM_001145774.1:c.1257T>C, NM_001145770.3:c.1257T>C, NM_001145770.2:c.1257T>C, NM_001145770.1:c.1257T>C, NM_001145773.3:c.1272T>C, NM_001145773.2:c.1272T>C, NM_001145773.1:c.1272T>C, NM_001290144.2:c.732T>C, NM_001290144.1:c.732T>C, NM_001290143.2:c.732T>C, NM_001290143.1:c.732T>C, NM_001290142.2:c.747T>C, NM_001290142.1:c.747T>C, NM_001370428.1:c.1257T>C, NM_001370440.1:c.1257T>C, NM_001370436.1:c.1257T>C, NM_001370453.1:c.732T>C, NM_001370431.1:c.1257T>C, NM_001370434.1:c.1254T>C, NM_001370451.1:c.732T>C, NM_001370437.1:c.1257T>C, NM_001370429.1:c.1257T>C, NM_001370430.1:c.1257T>C, NM_001370438.1:c.1257T>C, NM_001370454.1:c.732T>C, NM_001370435.1:c.1257T>C, NM_001370432.1:c.1257T>C, NM_001370433.1:c.1272T>C, NM_001370439.1:c.1257T>C, NM_001370441.1:c.1254T>C, NM_001370442.1:c.1101T>C, XM_006721339.5:c.1272T>C, XM_006721339.4:c.1272T>C, XM_006721339.3:c.1272T>C, XM_006721339.2:c.1272T>C, XM_006721339.1:c.1272T>C, XM_005256242.5:c.1272T>C, XM_005256242.4:c.1272T>C, XM_005256242.3:c.1272T>C, XM_005256242.2:c.1272T>C, XM_005256242.1:c.1272T>C, XM_005256241.5:c.1272T>C, XM_005256241.4:c.1272T>C, XM_005256241.3:c.1272T>C, XM_005256241.2:c.1272T>C, XM_005256241.1:c.1272T>C, XM_005256240.5:c.1272T>C, XM_005256240.4:c.1272T>C, XM_005256240.3:c.1272T>C, XM_005256240.2:c.1272T>C, XM_005256240.1:c.1272T>C, XM_006721340.4:c.1272T>C, XM_006721340.3:c.1272T>C, XM_006721340.2:c.1272T>C, XM_006721340.1:c.1272T>C, XM_005256244.4:c.1272T>C, XM_005256244.3:c.1272T>C, XM_005256244.2:c.1272T>C, XM_005256244.1:c.1272T>C, XM_005256239.3:c.1272T>C, XM_005256239.2:c.1272T>C, XM_005256239.1:c.1272T>C, XM_006721338.3:c.1272T>C, XM_006721338.2:c.1272T>C, XM_006721338.1:c.1272T>C, XM_005256238.3:c.1272T>C, XM_005256238.2:c.1272T>C, XM_005256238.1:c.1272T>C, XM_005256246.3:c.1257T>C, XM_005256246.2:c.1257T>C, XM_005256246.1:c.1257T>C, XM_006721342.3:c.1257T>C, XM_006721342.2:c.1257T>C, XM_006721342.1:c.1257T>C, XM_006721347.3:c.1272T>C, XM_006721347.2:c.1272T>C, XM_006721347.1:c.1272T>C, XM_005256255.3:c.1257T>C, XM_005256255.2:c.1257T>C, XM_005256255.1:c.1257T>C, XM_011523462.3:c.1272T>C, XM_011523462.2:c.1272T>C, XM_011523462.1:c.1272T>C, XM_011523466.3:c.1257T>C, XM_011523466.2:c.1257T>C, XM_011523466.1:c.1257T>C, XM_005256245.3:c.1272T>C, XM_005256245.2:c.1272T>C, XM_005256245.1:c.1272T>C, XM_005256254.3:c.1257T>C, XM_005256254.2:c.1257T>C, XM_005256254.1:c.1257T>C, XM_005256237.3:c.1272T>C, XM_005256237.2:c.1272T>C, XM_005256237.1:c.1272T>C, XM_005256248.3:c.1257T>C, XM_005256248.2:c.1257T>C, XM_005256248.1:c.1257T>C, XM_005256252.3:c.1257T>C, XM_005256252.2:c.1257T>C, XM_005256252.1:c.1257T>C, XM_011523468.3:c.1257T>C, XM_011523468.2:c.1257T>C, XM_011523468.1:c.1257T>C, XM_017023892.2:c.1257T>C, XM_017023892.1:c.1257T>C, XM_047434909.1:c.1272T>C, XM_047434911.1:c.1272T>C, XM_047434907.1:c.1272T>C, XM_047434906.1:c.1272T>C, XM_047434913.1:c.1257T>C, XM_047434910.1:c.1272T>C, XM_047434908.1:c.1272T>C, XM_047434914.1:c.1257T>C, XM_047434912.1:c.1272T>C, XM_047434915.1:c.1257T>C, XM_047434916.1:c.1257T>C

                      11.

                      rs1464673111 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->ATGC [Show Flanks]
                        Chromosome:
                        16:57651336 (GRCh38)
                        16:57685249 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57651336:CATGC:CATGCATGC
                        Gene:
                        ADGRG1 (Varview)
                        Functional Consequence:
                        intron_variant,frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CATGCATGC=0.000071/1 (ALFA)
                        CATG=0.000004/1 (TOPMED)
                        CATG=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.57651338_57651341dup, NC_000016.9:g.57685250_57685253dup, NG_011643.1:g.36341_36344dup, NM_005682.7:c.203_206dup, NM_005682.6:c.203_206dup, NM_005682.5:c.203_206dup, NM_201524.4:c.203_206dup, NM_201524.3:c.203_206dup, NM_201524.2:c.203_206dup, NM_201525.4:c.203_206dup, NM_201525.3:c.203_206dup, NM_201525.2:c.203_206dup, NM_001145772.3:c.203_206dup, NM_001145772.2:c.203_206dup, NM_001145772.1:c.203_206dup, NM_001145771.3:c.203_206dup, NM_001145771.2:c.203_206dup, NM_001145771.1:c.203_206dup, NM_001145774.3:c.203_206dup, NM_001145774.2:c.203_206dup, NM_001145774.1:c.203_206dup, NM_001145770.3:c.203_206dup, NM_001145770.2:c.203_206dup, NM_001145770.1:c.203_206dup, NM_001145773.3:c.218_221dup, NM_001145773.2:c.218_221dup, NM_001145773.1:c.218_221dup, NM_001290144.2:c.-323_-320dup, NM_001290144.1:c.-323_-320dup, NM_001290143.2:c.-323_-320dup, NM_001290143.1:c.-323_-320dup, NM_001370428.1:c.203_206dup, NM_001370440.1:c.203_206dup, NM_001370436.1:c.203_206dup, NM_001370453.1:c.-323_-320dup, NM_001370431.1:c.203_206dup, NM_001370434.1:c.203_206dup, NM_001370451.1:c.-323_-320dup, NM_001370437.1:c.203_206dup, NM_001370429.1:c.203_206dup, NM_001370430.1:c.203_206dup, NM_001370438.1:c.203_206dup, NM_001370454.1:c.-323_-320dup, NM_001370435.1:c.203_206dup, NM_001370432.1:c.203_206dup, NM_001370433.1:c.218_221dup, NM_001370439.1:c.203_206dup, NM_001370441.1:c.203_206dup, XM_006721339.5:c.218_221dup, XM_006721339.4:c.218_221dup, XM_006721339.3:c.218_221dup, XM_006721339.2:c.218_221dup, XM_006721339.1:c.218_221dup, XM_005256242.5:c.218_221dup, XM_005256242.4:c.218_221dup, XM_005256242.3:c.218_221dup, XM_005256242.2:c.218_221dup, XM_005256242.1:c.218_221dup, XM_005256241.5:c.218_221dup, XM_005256241.4:c.218_221dup, XM_005256241.3:c.218_221dup, XM_005256241.2:c.218_221dup, XM_005256241.1:c.218_221dup, XM_005256240.5:c.218_221dup, XM_005256240.4:c.218_221dup, XM_005256240.3:c.218_221dup, XM_005256240.2:c.218_221dup, XM_005256240.1:c.218_221dup, XM_006721340.4:c.218_221dup, XM_006721340.3:c.218_221dup, XM_006721340.2:c.218_221dup, XM_006721340.1:c.218_221dup, XM_005256244.4:c.218_221dup, XM_005256244.3:c.218_221dup, XM_005256244.2:c.218_221dup, XM_005256244.1:c.218_221dup, XM_005256239.3:c.218_221dup, XM_005256239.2:c.218_221dup, XM_005256239.1:c.218_221dup, XM_006721338.3:c.218_221dup, XM_006721338.2:c.218_221dup, XM_006721338.1:c.218_221dup, XM_005256238.3:c.218_221dup, XM_005256238.2:c.218_221dup, XM_005256238.1:c.218_221dup, XM_005256246.3:c.203_206dup, XM_005256246.2:c.203_206dup, XM_005256246.1:c.203_206dup, XM_006721342.3:c.203_206dup, XM_006721342.2:c.203_206dup, XM_006721342.1:c.203_206dup, XM_006721347.3:c.218_221dup, XM_006721347.2:c.218_221dup, XM_006721347.1:c.218_221dup, XM_005256255.3:c.203_206dup, XM_005256255.2:c.203_206dup, XM_005256255.1:c.203_206dup, XM_011523462.3:c.218_221dup, XM_011523462.2:c.218_221dup, XM_011523462.1:c.218_221dup, XM_011523466.3:c.203_206dup, XM_011523466.2:c.203_206dup, XM_011523466.1:c.203_206dup, XM_005256245.3:c.218_221dup, XM_005256245.2:c.218_221dup, XM_005256245.1:c.218_221dup, XM_005256254.3:c.203_206dup, XM_005256254.2:c.203_206dup, XM_005256254.1:c.203_206dup, XM_005256237.3:c.218_221dup, XM_005256237.2:c.218_221dup, XM_005256237.1:c.218_221dup, XM_005256248.3:c.203_206dup, XM_005256248.2:c.203_206dup, XM_005256248.1:c.203_206dup, XM_005256252.3:c.203_206dup, XM_005256252.2:c.203_206dup, XM_005256252.1:c.203_206dup, XM_011523468.3:c.203_206dup, XM_011523468.2:c.203_206dup, XM_011523468.1:c.203_206dup, XM_017023892.2:c.203_206dup, XM_017023892.1:c.203_206dup, XM_047434909.1:c.218_221dup, XM_047434911.1:c.218_221dup, XM_047434907.1:c.218_221dup, XM_047434906.1:c.218_221dup, XM_047434913.1:c.203_206dup, XM_047434910.1:c.218_221dup, XM_047434908.1:c.218_221dup, XM_047434914.1:c.203_206dup, XM_047434912.1:c.218_221dup, XM_047434915.1:c.203_206dup, XM_047434916.1:c.203_206dup, NP_005673.3:p.Pro70fs, NP_958932.1:p.Pro70fs, NP_958933.1:p.Pro70fs, NP_001139244.1:p.Pro70fs, NP_001139243.1:p.Pro70fs, NP_001139246.1:p.Pro70fs, NP_001139242.1:p.Pro70fs, NP_001139245.1:p.Pro75fs, NP_001357357.1:p.Pro70fs, NP_001357369.1:p.Pro70fs, NP_001357365.1:p.Pro70fs, NP_001357360.1:p.Pro70fs, NP_001357363.1:p.Pro70fs, NP_001357366.1:p.Pro70fs, NP_001357358.1:p.Pro70fs, NP_001357359.1:p.Pro70fs, NP_001357367.1:p.Pro70fs, NP_001357364.1:p.Pro70fs, NP_001357361.1:p.Pro70fs, NP_001357362.1:p.Pro75fs, NP_001357368.1:p.Pro70fs, NP_001357370.1:p.Pro70fs, XP_006721402.1:p.Pro75fs, XP_005256299.1:p.Pro75fs, XP_005256298.1:p.Pro75fs, XP_005256297.1:p.Pro75fs, XP_006721403.1:p.Pro75fs, XP_005256301.1:p.Pro75fs, XP_005256296.1:p.Pro75fs, XP_006721401.1:p.Pro75fs, XP_005256295.1:p.Pro75fs, XP_005256303.1:p.Pro70fs, XP_006721405.1:p.Pro70fs, XP_006721410.1:p.Pro75fs, XP_005256312.1:p.Pro70fs, XP_011521764.1:p.Pro75fs, XP_011521768.1:p.Pro70fs, XP_005256302.1:p.Pro75fs, XP_005256311.1:p.Pro70fs, XP_005256294.1:p.Pro75fs, XP_005256305.1:p.Pro70fs, XP_005256309.1:p.Pro70fs, XP_011521770.1:p.Pro70fs, XP_016879381.1:p.Pro70fs, XP_047290865.1:p.Pro75fs, XP_047290867.1:p.Pro75fs, XP_047290863.1:p.Pro75fs, XP_047290862.1:p.Pro75fs, XP_047290869.1:p.Pro70fs, XP_047290866.1:p.Pro75fs, XP_047290864.1:p.Pro75fs, XP_047290870.1:p.Pro70fs, XP_047290868.1:p.Pro75fs, XP_047290871.1:p.Pro70fs, XP_047290872.1:p.Pro70fs

                        12.

                        rs1462491679 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:57651377 (GRCh38)
                          16:57685289 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57651376:T:C
                          Gene:
                          ADGRG1 (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.57651377T>C, NC_000016.9:g.57685289T>C, NG_011643.1:g.36380T>C, NM_005682.7:c.242T>C, NM_005682.6:c.242T>C, NM_005682.5:c.242T>C, NM_201524.4:c.242T>C, NM_201524.3:c.242T>C, NM_201524.2:c.242T>C, NM_201525.4:c.242T>C, NM_201525.3:c.242T>C, NM_201525.2:c.242T>C, NM_001145772.3:c.242T>C, NM_001145772.2:c.242T>C, NM_001145772.1:c.242T>C, NM_001145771.3:c.242T>C, NM_001145771.2:c.242T>C, NM_001145771.1:c.242T>C, NM_001145774.3:c.242T>C, NM_001145774.2:c.242T>C, NM_001145774.1:c.242T>C, NM_001145770.3:c.242T>C, NM_001145770.2:c.242T>C, NM_001145770.1:c.242T>C, NM_001145773.3:c.257T>C, NM_001145773.2:c.257T>C, NM_001145773.1:c.257T>C, NM_001290144.2:c.-284T>C, NM_001290144.1:c.-284T>C, NM_001290143.2:c.-284T>C, NM_001290143.1:c.-284T>C, NM_001370428.1:c.242T>C, NM_001370440.1:c.242T>C, NM_001370436.1:c.242T>C, NM_001370453.1:c.-284T>C, NM_001370431.1:c.242T>C, NM_001370434.1:c.242T>C, NM_001370451.1:c.-284T>C, NM_001370437.1:c.242T>C, NM_001370429.1:c.242T>C, NM_001370430.1:c.242T>C, NM_001370438.1:c.242T>C, NM_001370454.1:c.-284T>C, NM_001370435.1:c.242T>C, NM_001370432.1:c.242T>C, NM_001370433.1:c.257T>C, NM_001370439.1:c.242T>C, NM_001370441.1:c.242T>C, NM_001370442.1:c.86T>C, XM_006721339.5:c.257T>C, XM_006721339.4:c.257T>C, XM_006721339.3:c.257T>C, XM_006721339.2:c.257T>C, XM_006721339.1:c.257T>C, XM_005256242.5:c.257T>C, XM_005256242.4:c.257T>C, XM_005256242.3:c.257T>C, XM_005256242.2:c.257T>C, XM_005256242.1:c.257T>C, XM_005256241.5:c.257T>C, XM_005256241.4:c.257T>C, XM_005256241.3:c.257T>C, XM_005256241.2:c.257T>C, XM_005256241.1:c.257T>C, XM_005256240.5:c.257T>C, XM_005256240.4:c.257T>C, XM_005256240.3:c.257T>C, XM_005256240.2:c.257T>C, XM_005256240.1:c.257T>C, XM_006721340.4:c.257T>C, XM_006721340.3:c.257T>C, XM_006721340.2:c.257T>C, XM_006721340.1:c.257T>C, XM_005256244.4:c.257T>C, XM_005256244.3:c.257T>C, XM_005256244.2:c.257T>C, XM_005256244.1:c.257T>C, XM_005256239.3:c.257T>C, XM_005256239.2:c.257T>C, XM_005256239.1:c.257T>C, XM_006721338.3:c.257T>C, XM_006721338.2:c.257T>C, XM_006721338.1:c.257T>C, XM_005256238.3:c.257T>C, XM_005256238.2:c.257T>C, XM_005256238.1:c.257T>C, XM_005256246.3:c.242T>C, XM_005256246.2:c.242T>C, XM_005256246.1:c.242T>C, XM_006721342.3:c.242T>C, XM_006721342.2:c.242T>C, XM_006721342.1:c.242T>C, XM_006721347.3:c.257T>C, XM_006721347.2:c.257T>C, XM_006721347.1:c.257T>C, XM_005256255.3:c.242T>C, XM_005256255.2:c.242T>C, XM_005256255.1:c.242T>C, XM_011523462.3:c.257T>C, XM_011523462.2:c.257T>C, XM_011523462.1:c.257T>C, XM_011523466.3:c.242T>C, XM_011523466.2:c.242T>C, XM_011523466.1:c.242T>C, XM_005256245.3:c.257T>C, XM_005256245.2:c.257T>C, XM_005256245.1:c.257T>C, XM_005256254.3:c.242T>C, XM_005256254.2:c.242T>C, XM_005256254.1:c.242T>C, XM_005256237.3:c.257T>C, XM_005256237.2:c.257T>C, XM_005256237.1:c.257T>C, XM_005256248.3:c.242T>C, XM_005256248.2:c.242T>C, XM_005256248.1:c.242T>C, XM_005256252.3:c.242T>C, XM_005256252.2:c.242T>C, XM_005256252.1:c.242T>C, XM_011523468.3:c.242T>C, XM_011523468.2:c.242T>C, XM_011523468.1:c.242T>C, XM_017023892.2:c.242T>C, XM_017023892.1:c.242T>C, XM_047434909.1:c.257T>C, XM_047434911.1:c.257T>C, XM_047434907.1:c.257T>C, XM_047434906.1:c.257T>C, XM_047434913.1:c.242T>C, XM_047434910.1:c.257T>C, XM_047434908.1:c.257T>C, XM_047434914.1:c.242T>C, XM_047434912.1:c.257T>C, XM_047434915.1:c.242T>C, XM_047434916.1:c.242T>C, NP_005673.3:p.Phe81Ser, NP_958932.1:p.Phe81Ser, NP_958933.1:p.Phe81Ser, NP_001139244.1:p.Phe81Ser, NP_001139243.1:p.Phe81Ser, NP_001139246.1:p.Phe81Ser, NP_001139242.1:p.Phe81Ser, NP_001139245.1:p.Phe86Ser, NP_001357357.1:p.Phe81Ser, NP_001357369.1:p.Phe81Ser, NP_001357365.1:p.Phe81Ser, NP_001357360.1:p.Phe81Ser, NP_001357363.1:p.Phe81Ser, NP_001357366.1:p.Phe81Ser, NP_001357358.1:p.Phe81Ser, NP_001357359.1:p.Phe81Ser, NP_001357367.1:p.Phe81Ser, NP_001357364.1:p.Phe81Ser, NP_001357361.1:p.Phe81Ser, NP_001357362.1:p.Phe86Ser, NP_001357368.1:p.Phe81Ser, NP_001357370.1:p.Phe81Ser, NP_001357371.1:p.Phe29Ser, XP_006721402.1:p.Phe86Ser, XP_005256299.1:p.Phe86Ser, XP_005256298.1:p.Phe86Ser, XP_005256297.1:p.Phe86Ser, XP_006721403.1:p.Phe86Ser, XP_005256301.1:p.Phe86Ser, XP_005256296.1:p.Phe86Ser, XP_006721401.1:p.Phe86Ser, XP_005256295.1:p.Phe86Ser, XP_005256303.1:p.Phe81Ser, XP_006721405.1:p.Phe81Ser, XP_006721410.1:p.Phe86Ser, XP_005256312.1:p.Phe81Ser, XP_011521764.1:p.Phe86Ser, XP_011521768.1:p.Phe81Ser, XP_005256302.1:p.Phe86Ser, XP_005256311.1:p.Phe81Ser, XP_005256294.1:p.Phe86Ser, XP_005256305.1:p.Phe81Ser, XP_005256309.1:p.Phe81Ser, XP_011521770.1:p.Phe81Ser, XP_016879381.1:p.Phe81Ser, XP_047290865.1:p.Phe86Ser, XP_047290867.1:p.Phe86Ser, XP_047290863.1:p.Phe86Ser, XP_047290862.1:p.Phe86Ser, XP_047290869.1:p.Phe81Ser, XP_047290866.1:p.Phe86Ser, XP_047290864.1:p.Phe86Ser, XP_047290870.1:p.Phe81Ser, XP_047290868.1:p.Phe86Ser, XP_047290871.1:p.Phe81Ser, XP_047290872.1:p.Phe81Ser

                          13.

                          rs1462375970 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:57651602 (GRCh38)
                            16:57685514 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57651601:G:A
                            Gene:
                            ADGRG1 (Varview)
                            Functional Consequence:
                            intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.57651602G>A, NC_000016.9:g.57685514G>A, NG_011643.1:g.36605G>A, NM_005682.7:c.467G>A, NM_005682.6:c.467G>A, NM_005682.5:c.467G>A, NM_201524.4:c.467G>A, NM_201524.3:c.467G>A, NM_201524.2:c.467G>A, NM_201525.4:c.467G>A, NM_201525.3:c.467G>A, NM_201525.2:c.467G>A, NM_001145772.3:c.467G>A, NM_001145772.2:c.467G>A, NM_001145772.1:c.467G>A, NM_001145771.3:c.467G>A, NM_001145771.2:c.467G>A, NM_001145771.1:c.467G>A, NM_001145774.3:c.467G>A, NM_001145774.2:c.467G>A, NM_001145774.1:c.467G>A, NM_001145770.3:c.467G>A, NM_001145770.2:c.467G>A, NM_001145770.1:c.467G>A, NM_001145773.3:c.482G>A, NM_001145773.2:c.482G>A, NM_001145773.1:c.482G>A, NM_001290144.2:c.-59G>A, NM_001290144.1:c.-59G>A, NM_001290143.2:c.-59G>A, NM_001290143.1:c.-59G>A, NM_001370428.1:c.467G>A, NM_001370440.1:c.467G>A, NM_001370436.1:c.467G>A, NM_001370453.1:c.-59G>A, NM_001370431.1:c.467G>A, NM_001370434.1:c.467G>A, NM_001370451.1:c.-59G>A, NM_001370437.1:c.467G>A, NM_001370429.1:c.467G>A, NM_001370430.1:c.467G>A, NM_001370438.1:c.467G>A, NM_001370454.1:c.-59G>A, NM_001370435.1:c.467G>A, NM_001370432.1:c.467G>A, NM_001370433.1:c.482G>A, NM_001370439.1:c.467G>A, NM_001370441.1:c.467G>A, NM_001370442.1:c.311G>A, XM_006721339.5:c.482G>A, XM_006721339.4:c.482G>A, XM_006721339.3:c.482G>A, XM_006721339.2:c.482G>A, XM_006721339.1:c.482G>A, XM_005256242.5:c.482G>A, XM_005256242.4:c.482G>A, XM_005256242.3:c.482G>A, XM_005256242.2:c.482G>A, XM_005256242.1:c.482G>A, XM_005256241.5:c.482G>A, XM_005256241.4:c.482G>A, XM_005256241.3:c.482G>A, XM_005256241.2:c.482G>A, XM_005256241.1:c.482G>A, XM_005256240.5:c.482G>A, XM_005256240.4:c.482G>A, XM_005256240.3:c.482G>A, XM_005256240.2:c.482G>A, XM_005256240.1:c.482G>A, XM_006721340.4:c.482G>A, XM_006721340.3:c.482G>A, XM_006721340.2:c.482G>A, XM_006721340.1:c.482G>A, XM_005256244.4:c.482G>A, XM_005256244.3:c.482G>A, XM_005256244.2:c.482G>A, XM_005256244.1:c.482G>A, XM_005256239.3:c.482G>A, XM_005256239.2:c.482G>A, XM_005256239.1:c.482G>A, XM_006721338.3:c.482G>A, XM_006721338.2:c.482G>A, XM_006721338.1:c.482G>A, XM_005256238.3:c.482G>A, XM_005256238.2:c.482G>A, XM_005256238.1:c.482G>A, XM_005256246.3:c.467G>A, XM_005256246.2:c.467G>A, XM_005256246.1:c.467G>A, XM_006721342.3:c.467G>A, XM_006721342.2:c.467G>A, XM_006721342.1:c.467G>A, XM_006721347.3:c.482G>A, XM_006721347.2:c.482G>A, XM_006721347.1:c.482G>A, XM_005256255.3:c.467G>A, XM_005256255.2:c.467G>A, XM_005256255.1:c.467G>A, XM_011523462.3:c.482G>A, XM_011523462.2:c.482G>A, XM_011523462.1:c.482G>A, XM_011523466.3:c.467G>A, XM_011523466.2:c.467G>A, XM_011523466.1:c.467G>A, XM_005256245.3:c.482G>A, XM_005256245.2:c.482G>A, XM_005256245.1:c.482G>A, XM_005256254.3:c.467G>A, XM_005256254.2:c.467G>A, XM_005256254.1:c.467G>A, XM_005256237.3:c.482G>A, XM_005256237.2:c.482G>A, XM_005256237.1:c.482G>A, XM_005256248.3:c.467G>A, XM_005256248.2:c.467G>A, XM_005256248.1:c.467G>A, XM_005256252.3:c.467G>A, XM_005256252.2:c.467G>A, XM_005256252.1:c.467G>A, XM_011523468.3:c.467G>A, XM_011523468.2:c.467G>A, XM_011523468.1:c.467G>A, XM_017023892.2:c.467G>A, XM_017023892.1:c.467G>A, XM_047434909.1:c.482G>A, XM_047434911.1:c.482G>A, XM_047434907.1:c.482G>A, XM_047434906.1:c.482G>A, XM_047434913.1:c.467G>A, XM_047434910.1:c.482G>A, XM_047434908.1:c.482G>A, XM_047434914.1:c.467G>A, XM_047434912.1:c.482G>A, XM_047434915.1:c.467G>A, XM_047434916.1:c.467G>A, NP_005673.3:p.Ser156Asn, NP_958932.1:p.Ser156Asn, NP_958933.1:p.Ser156Asn, NP_001139244.1:p.Ser156Asn, NP_001139243.1:p.Ser156Asn, NP_001139246.1:p.Ser156Asn, NP_001139242.1:p.Ser156Asn, NP_001139245.1:p.Ser161Asn, NP_001357357.1:p.Ser156Asn, NP_001357369.1:p.Ser156Asn, NP_001357365.1:p.Ser156Asn, NP_001357360.1:p.Ser156Asn, NP_001357363.1:p.Ser156Asn, NP_001357366.1:p.Ser156Asn, NP_001357358.1:p.Ser156Asn, NP_001357359.1:p.Ser156Asn, NP_001357367.1:p.Ser156Asn, NP_001357364.1:p.Ser156Asn, NP_001357361.1:p.Ser156Asn, NP_001357362.1:p.Ser161Asn, NP_001357368.1:p.Ser156Asn, NP_001357370.1:p.Ser156Asn, NP_001357371.1:p.Ser104Asn, XP_006721402.1:p.Ser161Asn, XP_005256299.1:p.Ser161Asn, XP_005256298.1:p.Ser161Asn, XP_005256297.1:p.Ser161Asn, XP_006721403.1:p.Ser161Asn, XP_005256301.1:p.Ser161Asn, XP_005256296.1:p.Ser161Asn, XP_006721401.1:p.Ser161Asn, XP_005256295.1:p.Ser161Asn, XP_005256303.1:p.Ser156Asn, XP_006721405.1:p.Ser156Asn, XP_006721410.1:p.Ser161Asn, XP_005256312.1:p.Ser156Asn, XP_011521764.1:p.Ser161Asn, XP_011521768.1:p.Ser156Asn, XP_005256302.1:p.Ser161Asn, XP_005256311.1:p.Ser156Asn, XP_005256294.1:p.Ser161Asn, XP_005256305.1:p.Ser156Asn, XP_005256309.1:p.Ser156Asn, XP_011521770.1:p.Ser156Asn, XP_016879381.1:p.Ser156Asn, XP_047290865.1:p.Ser161Asn, XP_047290867.1:p.Ser161Asn, XP_047290863.1:p.Ser161Asn, XP_047290862.1:p.Ser161Asn, XP_047290869.1:p.Ser156Asn, XP_047290866.1:p.Ser161Asn, XP_047290864.1:p.Ser161Asn, XP_047290870.1:p.Ser156Asn, XP_047290868.1:p.Ser161Asn, XP_047290871.1:p.Ser156Asn, XP_047290872.1:p.Ser156Asn

                            14.

                            rs1462317722 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:57651325 (GRCh38)
                              16:57685237 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57651324:G:A
                              Gene:
                              ADGRG1 (Varview)
                              Functional Consequence:
                              intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000016.10:g.57651325G>A, NC_000016.9:g.57685237G>A, NG_011643.1:g.36328G>A, NM_005682.7:c.190G>A, NM_005682.6:c.190G>A, NM_005682.5:c.190G>A, NM_201524.4:c.190G>A, NM_201524.3:c.190G>A, NM_201524.2:c.190G>A, NM_201525.4:c.190G>A, NM_201525.3:c.190G>A, NM_201525.2:c.190G>A, NM_001145772.3:c.190G>A, NM_001145772.2:c.190G>A, NM_001145772.1:c.190G>A, NM_001145771.3:c.190G>A, NM_001145771.2:c.190G>A, NM_001145771.1:c.190G>A, NM_001145774.3:c.190G>A, NM_001145774.2:c.190G>A, NM_001145774.1:c.190G>A, NM_001145770.3:c.190G>A, NM_001145770.2:c.190G>A, NM_001145770.1:c.190G>A, NM_001145773.3:c.205G>A, NM_001145773.2:c.205G>A, NM_001145773.1:c.205G>A, NM_001290144.2:c.-336G>A, NM_001290144.1:c.-336G>A, NM_001290143.2:c.-336G>A, NM_001290143.1:c.-336G>A, NM_001370428.1:c.190G>A, NM_001370440.1:c.190G>A, NM_001370436.1:c.190G>A, NM_001370453.1:c.-336G>A, NM_001370431.1:c.190G>A, NM_001370434.1:c.190G>A, NM_001370451.1:c.-336G>A, NM_001370437.1:c.190G>A, NM_001370429.1:c.190G>A, NM_001370430.1:c.190G>A, NM_001370438.1:c.190G>A, NM_001370454.1:c.-336G>A, NM_001370435.1:c.190G>A, NM_001370432.1:c.190G>A, NM_001370433.1:c.205G>A, NM_001370439.1:c.190G>A, NM_001370441.1:c.190G>A, XM_006721339.5:c.205G>A, XM_006721339.4:c.205G>A, XM_006721339.3:c.205G>A, XM_006721339.2:c.205G>A, XM_006721339.1:c.205G>A, XM_005256242.5:c.205G>A, XM_005256242.4:c.205G>A, XM_005256242.3:c.205G>A, XM_005256242.2:c.205G>A, XM_005256242.1:c.205G>A, XM_005256241.5:c.205G>A, XM_005256241.4:c.205G>A, XM_005256241.3:c.205G>A, XM_005256241.2:c.205G>A, XM_005256241.1:c.205G>A, XM_005256240.5:c.205G>A, XM_005256240.4:c.205G>A, XM_005256240.3:c.205G>A, XM_005256240.2:c.205G>A, XM_005256240.1:c.205G>A, XM_006721340.4:c.205G>A, XM_006721340.3:c.205G>A, XM_006721340.2:c.205G>A, XM_006721340.1:c.205G>A, XM_005256244.4:c.205G>A, XM_005256244.3:c.205G>A, XM_005256244.2:c.205G>A, XM_005256244.1:c.205G>A, XM_005256239.3:c.205G>A, XM_005256239.2:c.205G>A, XM_005256239.1:c.205G>A, XM_006721338.3:c.205G>A, XM_006721338.2:c.205G>A, XM_006721338.1:c.205G>A, XM_005256238.3:c.205G>A, XM_005256238.2:c.205G>A, XM_005256238.1:c.205G>A, XM_005256246.3:c.190G>A, XM_005256246.2:c.190G>A, XM_005256246.1:c.190G>A, XM_006721342.3:c.190G>A, XM_006721342.2:c.190G>A, XM_006721342.1:c.190G>A, XM_006721347.3:c.205G>A, XM_006721347.2:c.205G>A, XM_006721347.1:c.205G>A, XM_005256255.3:c.190G>A, XM_005256255.2:c.190G>A, XM_005256255.1:c.190G>A, XM_011523462.3:c.205G>A, XM_011523462.2:c.205G>A, XM_011523462.1:c.205G>A, XM_011523466.3:c.190G>A, XM_011523466.2:c.190G>A, XM_011523466.1:c.190G>A, XM_005256245.3:c.205G>A, XM_005256245.2:c.205G>A, XM_005256245.1:c.205G>A, XM_005256254.3:c.190G>A, XM_005256254.2:c.190G>A, XM_005256254.1:c.190G>A, XM_005256237.3:c.205G>A, XM_005256237.2:c.205G>A, XM_005256237.1:c.205G>A, XM_005256248.3:c.190G>A, XM_005256248.2:c.190G>A, XM_005256248.1:c.190G>A, XM_005256252.3:c.190G>A, XM_005256252.2:c.190G>A, XM_005256252.1:c.190G>A, XM_011523468.3:c.190G>A, XM_011523468.2:c.190G>A, XM_011523468.1:c.190G>A, XM_017023892.2:c.190G>A, XM_017023892.1:c.190G>A, XM_047434909.1:c.205G>A, XM_047434911.1:c.205G>A, XM_047434907.1:c.205G>A, XM_047434906.1:c.205G>A, XM_047434913.1:c.190G>A, XM_047434910.1:c.205G>A, XM_047434908.1:c.205G>A, XM_047434914.1:c.190G>A, XM_047434912.1:c.205G>A, XM_047434915.1:c.190G>A, XM_047434916.1:c.190G>A, NP_005673.3:p.Ala64Thr, NP_958932.1:p.Ala64Thr, NP_958933.1:p.Ala64Thr, NP_001139244.1:p.Ala64Thr, NP_001139243.1:p.Ala64Thr, NP_001139246.1:p.Ala64Thr, NP_001139242.1:p.Ala64Thr, NP_001139245.1:p.Ala69Thr, NP_001357357.1:p.Ala64Thr, NP_001357369.1:p.Ala64Thr, NP_001357365.1:p.Ala64Thr, NP_001357360.1:p.Ala64Thr, NP_001357363.1:p.Ala64Thr, NP_001357366.1:p.Ala64Thr, NP_001357358.1:p.Ala64Thr, NP_001357359.1:p.Ala64Thr, NP_001357367.1:p.Ala64Thr, NP_001357364.1:p.Ala64Thr, NP_001357361.1:p.Ala64Thr, NP_001357362.1:p.Ala69Thr, NP_001357368.1:p.Ala64Thr, NP_001357370.1:p.Ala64Thr, XP_006721402.1:p.Ala69Thr, XP_005256299.1:p.Ala69Thr, XP_005256298.1:p.Ala69Thr, XP_005256297.1:p.Ala69Thr, XP_006721403.1:p.Ala69Thr, XP_005256301.1:p.Ala69Thr, XP_005256296.1:p.Ala69Thr, XP_006721401.1:p.Ala69Thr, XP_005256295.1:p.Ala69Thr, XP_005256303.1:p.Ala64Thr, XP_006721405.1:p.Ala64Thr, XP_006721410.1:p.Ala69Thr, XP_005256312.1:p.Ala64Thr, XP_011521764.1:p.Ala69Thr, XP_011521768.1:p.Ala64Thr, XP_005256302.1:p.Ala69Thr, XP_005256311.1:p.Ala64Thr, XP_005256294.1:p.Ala69Thr, XP_005256305.1:p.Ala64Thr, XP_005256309.1:p.Ala64Thr, XP_011521770.1:p.Ala64Thr, XP_016879381.1:p.Ala64Thr, XP_047290865.1:p.Ala69Thr, XP_047290867.1:p.Ala69Thr, XP_047290863.1:p.Ala69Thr, XP_047290862.1:p.Ala69Thr, XP_047290869.1:p.Ala64Thr, XP_047290866.1:p.Ala69Thr, XP_047290864.1:p.Ala69Thr, XP_047290870.1:p.Ala64Thr, XP_047290868.1:p.Ala69Thr, XP_047290871.1:p.Ala64Thr, XP_047290872.1:p.Ala64Thr

                              15.

                              rs1461590736 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                16:57661845 (GRCh38)
                                16:57695757 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57661844:A:T
                                Gene:
                                ADGRG1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.57661845A>T, NC_000016.9:g.57695757A>T, NG_011643.1:g.46848A>T, NM_005682.7:c.1831A>T, NM_005682.6:c.1831A>T, NM_005682.5:c.1831A>T, NM_201524.4:c.1813A>T, NM_201524.3:c.1813A>T, NM_201524.2:c.1813A>T, NM_201525.4:c.1813A>T, NM_201525.3:c.1813A>T, NM_201525.2:c.1813A>T, NM_001145772.3:c.1813A>T, NM_001145772.2:c.1813A>T, NM_001145772.1:c.1813A>T, NM_001145771.3:c.1831A>T, NM_001145771.2:c.1831A>T, NM_001145771.1:c.1831A>T, NM_001145774.3:c.1813A>T, NM_001145774.2:c.1813A>T, NM_001145774.1:c.1813A>T, NM_001145770.3:c.1813A>T, NM_001145770.2:c.1813A>T, NM_001145770.1:c.1813A>T, NM_001145773.3:c.1828A>T, NM_001145773.2:c.1828A>T, NM_001145773.1:c.1828A>T, NM_001290144.2:c.1288A>T, NM_001290144.1:c.1288A>T, NM_001290143.2:c.1306A>T, NM_001290143.1:c.1306A>T, NM_001290142.2:c.1321A>T, NM_001290142.1:c.1321A>T, NM_001370428.1:c.1831A>T, NM_001370440.1:c.1813A>T, NM_001370436.1:c.1813A>T, NM_001370453.1:c.1288A>T, NM_001370431.1:c.1831A>T, NM_001370434.1:c.1828A>T, NM_001370451.1:c.1288A>T, NM_001370437.1:c.1813A>T, NM_001370429.1:c.1831A>T, NM_001370430.1:c.1831A>T, NM_001370438.1:c.1813A>T, NM_001370454.1:c.1288A>T, NM_001370435.1:c.1813A>T, NM_001370432.1:c.1831A>T, NM_001370433.1:c.1828A>T, NM_001370439.1:c.1813A>T, NM_001370441.1:c.1810A>T, NM_001370442.1:c.1657A>T, XM_006721339.5:c.1846A>T, XM_006721339.4:c.1846A>T, XM_006721339.3:c.1846A>T, XM_006721339.2:c.1846A>T, XM_006721339.1:c.1846A>T, XM_005256242.5:c.1846A>T, XM_005256242.4:c.1846A>T, XM_005256242.3:c.1846A>T, XM_005256242.2:c.1846A>T, XM_005256242.1:c.1846A>T, XM_005256241.5:c.1846A>T, XM_005256241.4:c.1846A>T, XM_005256241.3:c.1846A>T, XM_005256241.2:c.1846A>T, XM_005256241.1:c.1846A>T, XM_005256240.5:c.1846A>T, XM_005256240.4:c.1846A>T, XM_005256240.3:c.1846A>T, XM_005256240.2:c.1846A>T, XM_005256240.1:c.1846A>T, XM_006721340.4:c.1846A>T, XM_006721340.3:c.1846A>T, XM_006721340.2:c.1846A>T, XM_006721340.1:c.1846A>T, XM_005256244.4:c.1846A>T, XM_005256244.3:c.1846A>T, XM_005256244.2:c.1846A>T, XM_005256244.1:c.1846A>T, XM_005256239.3:c.1846A>T, XM_005256239.2:c.1846A>T, XM_005256239.1:c.1846A>T, XM_006721338.3:c.1846A>T, XM_006721338.2:c.1846A>T, XM_006721338.1:c.1846A>T, XM_005256238.3:c.1846A>T, XM_005256238.2:c.1846A>T, XM_005256238.1:c.1846A>T, XM_005256246.3:c.1831A>T, XM_005256246.2:c.1831A>T, XM_005256246.1:c.1831A>T, XM_006721342.3:c.1831A>T, XM_006721342.2:c.1831A>T, XM_006721342.1:c.1831A>T, XM_006721347.3:c.1828A>T, XM_006721347.2:c.1828A>T, XM_006721347.1:c.1828A>T, XM_005256255.3:c.1813A>T, XM_005256255.2:c.1813A>T, XM_005256255.1:c.1813A>T, XM_011523462.3:c.1846A>T, XM_011523462.2:c.1846A>T, XM_011523462.1:c.1846A>T, XM_011523466.3:c.1831A>T, XM_011523466.2:c.1831A>T, XM_011523466.1:c.1831A>T, XM_005256245.3:c.1846A>T, XM_005256245.2:c.1846A>T, XM_005256245.1:c.1846A>T, XM_005256254.3:c.1831A>T, XM_005256254.2:c.1831A>T, XM_005256254.1:c.1831A>T, XM_005256237.3:c.1846A>T, XM_005256237.2:c.1846A>T, XM_005256237.1:c.1846A>T, XM_005256248.3:c.1831A>T, XM_005256248.2:c.1831A>T, XM_005256248.1:c.1831A>T, XM_005256252.3:c.1831A>T, XM_005256252.2:c.1831A>T, XM_005256252.1:c.1831A>T, XM_011523468.3:c.1831A>T, XM_011523468.2:c.1831A>T, XM_011523468.1:c.1831A>T, XM_017023892.2:c.1813A>T, XM_017023892.1:c.1813A>T, XM_047434909.1:c.1828A>T, XM_047434911.1:c.1828A>T, XM_047434907.1:c.1828A>T, XM_047434906.1:c.1846A>T, XM_047434913.1:c.1813A>T, XM_047434910.1:c.1828A>T, XM_047434908.1:c.1828A>T, XM_047434914.1:c.1813A>T, XM_047434912.1:c.1828A>T, XM_047434915.1:c.1813A>T, XM_047434916.1:c.1813A>T, NP_005673.3:p.Thr611Ser, NP_958932.1:p.Thr605Ser, NP_958933.1:p.Thr605Ser, NP_001139244.1:p.Thr605Ser, NP_001139243.1:p.Thr611Ser, NP_001139246.1:p.Thr605Ser, NP_001139242.1:p.Thr605Ser, NP_001139245.1:p.Thr610Ser, NP_001277073.1:p.Thr430Ser, NP_001277072.1:p.Thr436Ser, NP_001277071.1:p.Thr441Ser, NP_001357357.1:p.Thr611Ser, NP_001357369.1:p.Thr605Ser, NP_001357365.1:p.Thr605Ser, NP_001357382.1:p.Thr430Ser, NP_001357360.1:p.Thr611Ser, NP_001357363.1:p.Thr610Ser, NP_001357380.1:p.Thr430Ser, NP_001357366.1:p.Thr605Ser, NP_001357358.1:p.Thr611Ser, NP_001357359.1:p.Thr611Ser, NP_001357367.1:p.Thr605Ser, NP_001357383.1:p.Thr430Ser, NP_001357364.1:p.Thr605Ser, NP_001357361.1:p.Thr611Ser, NP_001357362.1:p.Thr610Ser, NP_001357368.1:p.Thr605Ser, NP_001357370.1:p.Thr604Ser, NP_001357371.1:p.Thr553Ser, XP_006721402.1:p.Thr616Ser, XP_005256299.1:p.Thr616Ser, XP_005256298.1:p.Thr616Ser, XP_005256297.1:p.Thr616Ser, XP_006721403.1:p.Thr616Ser, XP_005256301.1:p.Thr616Ser, XP_005256296.1:p.Thr616Ser, XP_006721401.1:p.Thr616Ser, XP_005256295.1:p.Thr616Ser, XP_005256303.1:p.Thr611Ser, XP_006721405.1:p.Thr611Ser, XP_006721410.1:p.Thr610Ser, XP_005256312.1:p.Thr605Ser, XP_011521764.1:p.Thr616Ser, XP_011521768.1:p.Thr611Ser, XP_005256302.1:p.Thr616Ser, XP_005256311.1:p.Thr611Ser, XP_005256294.1:p.Thr616Ser, XP_005256305.1:p.Thr611Ser, XP_005256309.1:p.Thr611Ser, XP_011521770.1:p.Thr611Ser, XP_016879381.1:p.Thr605Ser, XP_047290865.1:p.Thr610Ser, XP_047290867.1:p.Thr610Ser, XP_047290863.1:p.Thr610Ser, XP_047290862.1:p.Thr616Ser, XP_047290869.1:p.Thr605Ser, XP_047290866.1:p.Thr610Ser, XP_047290864.1:p.Thr610Ser, XP_047290870.1:p.Thr605Ser, XP_047290868.1:p.Thr610Ser, XP_047290871.1:p.Thr605Ser, XP_047290872.1:p.Thr605Ser

                                16.

                                rs1461299145 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:57663457 (GRCh38)
                                  16:57697369 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57663456:C:T
                                  Gene:
                                  ADGRG1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.57663457C>T, NC_000016.9:g.57697369C>T, NG_011643.1:g.48460C>T, NM_005682.7:c.1957C>T, NM_005682.6:c.1957C>T, NM_005682.5:c.1957C>T, NM_201524.4:c.1939C>T, NM_201524.3:c.1939C>T, NM_201524.2:c.1939C>T, NM_201525.4:c.1939C>T, NM_201525.3:c.1939C>T, NM_201525.2:c.1939C>T, NM_001145772.3:c.1939C>T, NM_001145772.2:c.1939C>T, NM_001145772.1:c.1939C>T, NM_001145771.3:c.1957C>T, NM_001145771.2:c.1957C>T, NM_001145771.1:c.1957C>T, NM_001145774.3:c.1939C>T, NM_001145774.2:c.1939C>T, NM_001145774.1:c.1939C>T, NM_001145770.3:c.1939C>T, NM_001145770.2:c.1939C>T, NM_001145770.1:c.1939C>T, NM_001145773.3:c.1954C>T, NM_001145773.2:c.1954C>T, NM_001145773.1:c.1954C>T, NM_001290144.2:c.1414C>T, NM_001290144.1:c.1414C>T, NM_001290143.2:c.1432C>T, NM_001290143.1:c.1432C>T, NM_001290142.2:c.1447C>T, NM_001290142.1:c.1447C>T, NM_001370428.1:c.1957C>T, NM_001370440.1:c.1939C>T, NM_001370436.1:c.1939C>T, NM_001370453.1:c.1414C>T, NM_001370431.1:c.1957C>T, NM_001370434.1:c.1954C>T, NM_001370451.1:c.1414C>T, NM_001370437.1:c.1939C>T, NM_001370429.1:c.1957C>T, NM_001370430.1:c.1957C>T, NM_001370438.1:c.1939C>T, NM_001370454.1:c.1414C>T, NM_001370435.1:c.1939C>T, NM_001370432.1:c.1957C>T, NM_001370433.1:c.1954C>T, NM_001370439.1:c.1939C>T, NM_001370441.1:c.1936C>T, NM_001370442.1:c.1783C>T, XM_006721339.5:c.1972C>T, XM_006721339.4:c.1972C>T, XM_006721339.3:c.1972C>T, XM_006721339.2:c.1972C>T, XM_006721339.1:c.1972C>T, XM_005256242.5:c.1972C>T, XM_005256242.4:c.1972C>T, XM_005256242.3:c.1972C>T, XM_005256242.2:c.1972C>T, XM_005256242.1:c.1972C>T, XM_005256241.5:c.1972C>T, XM_005256241.4:c.1972C>T, XM_005256241.3:c.1972C>T, XM_005256241.2:c.1972C>T, XM_005256241.1:c.1972C>T, XM_005256240.5:c.1972C>T, XM_005256240.4:c.1972C>T, XM_005256240.3:c.1972C>T, XM_005256240.2:c.1972C>T, XM_005256240.1:c.1972C>T, XM_006721340.4:c.1972C>T, XM_006721340.3:c.1972C>T, XM_006721340.2:c.1972C>T, XM_006721340.1:c.1972C>T, XM_005256244.4:c.1972C>T, XM_005256244.3:c.1972C>T, XM_005256244.2:c.1972C>T, XM_005256244.1:c.1972C>T, XM_005256239.3:c.1972C>T, XM_005256239.2:c.1972C>T, XM_005256239.1:c.1972C>T, XM_006721338.3:c.1972C>T, XM_006721338.2:c.1972C>T, XM_006721338.1:c.1972C>T, XM_005256238.3:c.1972C>T, XM_005256238.2:c.1972C>T, XM_005256238.1:c.1972C>T, XM_005256246.3:c.1957C>T, XM_005256246.2:c.1957C>T, XM_005256246.1:c.1957C>T, XM_006721342.3:c.1957C>T, XM_006721342.2:c.1957C>T, XM_006721342.1:c.1957C>T, XM_006721347.3:c.1954C>T, XM_006721347.2:c.1954C>T, XM_006721347.1:c.1954C>T, XM_005256255.3:c.1939C>T, XM_005256255.2:c.1939C>T, XM_005256255.1:c.1939C>T, XM_011523462.3:c.1972C>T, XM_011523462.2:c.1972C>T, XM_011523462.1:c.1972C>T, XM_011523466.3:c.1957C>T, XM_011523466.2:c.1957C>T, XM_011523466.1:c.1957C>T, XM_005256245.3:c.1972C>T, XM_005256245.2:c.1972C>T, XM_005256245.1:c.1972C>T, XM_005256254.3:c.1957C>T, XM_005256254.2:c.1957C>T, XM_005256254.1:c.1957C>T, XM_005256237.3:c.1972C>T, XM_005256237.2:c.1972C>T, XM_005256237.1:c.1972C>T, XM_005256248.3:c.1957C>T, XM_005256248.2:c.1957C>T, XM_005256248.1:c.1957C>T, XM_005256252.3:c.1957C>T, XM_005256252.2:c.1957C>T, XM_005256252.1:c.1957C>T, XM_011523468.3:c.1957C>T, XM_011523468.2:c.1957C>T, XM_011523468.1:c.1957C>T, XM_017023892.2:c.1939C>T, XM_017023892.1:c.1939C>T, XM_047434909.1:c.1954C>T, XM_047434911.1:c.1954C>T, XM_047434907.1:c.1954C>T, XM_047434906.1:c.1972C>T, XM_047434913.1:c.1939C>T, XM_047434910.1:c.1954C>T, XM_047434908.1:c.1954C>T, XM_047434914.1:c.1939C>T, XM_047434912.1:c.1954C>T, XM_047434915.1:c.1939C>T, XM_047434916.1:c.1939C>T, NP_005673.3:p.Leu653Phe, NP_958932.1:p.Leu647Phe, NP_958933.1:p.Leu647Phe, NP_001139244.1:p.Leu647Phe, NP_001139243.1:p.Leu653Phe, NP_001139246.1:p.Leu647Phe, NP_001139242.1:p.Leu647Phe, NP_001139245.1:p.Leu652Phe, NP_001277073.1:p.Leu472Phe, NP_001277072.1:p.Leu478Phe, NP_001277071.1:p.Leu483Phe, NP_001357357.1:p.Leu653Phe, NP_001357369.1:p.Leu647Phe, NP_001357365.1:p.Leu647Phe, NP_001357382.1:p.Leu472Phe, NP_001357360.1:p.Leu653Phe, NP_001357363.1:p.Leu652Phe, NP_001357380.1:p.Leu472Phe, NP_001357366.1:p.Leu647Phe, NP_001357358.1:p.Leu653Phe, NP_001357359.1:p.Leu653Phe, NP_001357367.1:p.Leu647Phe, NP_001357383.1:p.Leu472Phe, NP_001357364.1:p.Leu647Phe, NP_001357361.1:p.Leu653Phe, NP_001357362.1:p.Leu652Phe, NP_001357368.1:p.Leu647Phe, NP_001357370.1:p.Leu646Phe, NP_001357371.1:p.Leu595Phe, XP_006721402.1:p.Leu658Phe, XP_005256299.1:p.Leu658Phe, XP_005256298.1:p.Leu658Phe, XP_005256297.1:p.Leu658Phe, XP_006721403.1:p.Leu658Phe, XP_005256301.1:p.Leu658Phe, XP_005256296.1:p.Leu658Phe, XP_006721401.1:p.Leu658Phe, XP_005256295.1:p.Leu658Phe, XP_005256303.1:p.Leu653Phe, XP_006721405.1:p.Leu653Phe, XP_006721410.1:p.Leu652Phe, XP_005256312.1:p.Leu647Phe, XP_011521764.1:p.Leu658Phe, XP_011521768.1:p.Leu653Phe, XP_005256302.1:p.Leu658Phe, XP_005256311.1:p.Leu653Phe, XP_005256294.1:p.Leu658Phe, XP_005256305.1:p.Leu653Phe, XP_005256309.1:p.Leu653Phe, XP_011521770.1:p.Leu653Phe, XP_016879381.1:p.Leu647Phe, XP_047290865.1:p.Leu652Phe, XP_047290867.1:p.Leu652Phe, XP_047290863.1:p.Leu652Phe, XP_047290862.1:p.Leu658Phe, XP_047290869.1:p.Leu647Phe, XP_047290866.1:p.Leu652Phe, XP_047290864.1:p.Leu652Phe, XP_047290870.1:p.Leu647Phe, XP_047290868.1:p.Leu652Phe, XP_047290871.1:p.Leu647Phe, XP_047290872.1:p.Leu647Phe

                                  17.

                                  rs1461136924 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    16:57660784 (GRCh38)
                                    16:57694696 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57660783:G:A,NC_000016.10:57660783:G:T
                                    Gene:
                                    ADGRG1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.57660784G>A, NC_000016.10:g.57660784G>T, NC_000016.9:g.57694696G>A, NC_000016.9:g.57694696G>T, NG_011643.1:g.45787G>A, NG_011643.1:g.45787G>T, NM_005682.7:c.1590G>A, NM_005682.7:c.1590G>T, NM_005682.6:c.1590G>A, NM_005682.6:c.1590G>T, NM_005682.5:c.1590G>A, NM_005682.5:c.1590G>T, NM_201524.4:c.1572G>A, NM_201524.4:c.1572G>T, NM_201524.3:c.1572G>A, NM_201524.3:c.1572G>T, NM_201524.2:c.1572G>A, NM_201524.2:c.1572G>T, NM_201525.4:c.1572G>A, NM_201525.4:c.1572G>T, NM_201525.3:c.1572G>A, NM_201525.3:c.1572G>T, NM_201525.2:c.1572G>A, NM_201525.2:c.1572G>T, NM_001145772.3:c.1572G>A, NM_001145772.3:c.1572G>T, NM_001145772.2:c.1572G>A, NM_001145772.2:c.1572G>T, NM_001145772.1:c.1572G>A, NM_001145772.1:c.1572G>T, NM_001145771.3:c.1590G>A, NM_001145771.3:c.1590G>T, NM_001145771.2:c.1590G>A, NM_001145771.2:c.1590G>T, NM_001145771.1:c.1590G>A, NM_001145771.1:c.1590G>T, NM_001145774.3:c.1572G>A, NM_001145774.3:c.1572G>T, NM_001145774.2:c.1572G>A, NM_001145774.2:c.1572G>T, NM_001145774.1:c.1572G>A, NM_001145774.1:c.1572G>T, NM_001145770.3:c.1572G>A, NM_001145770.3:c.1572G>T, NM_001145770.2:c.1572G>A, NM_001145770.2:c.1572G>T, NM_001145770.1:c.1572G>A, NM_001145770.1:c.1572G>T, NM_001145773.3:c.1587G>A, NM_001145773.3:c.1587G>T, NM_001145773.2:c.1587G>A, NM_001145773.2:c.1587G>T, NM_001145773.1:c.1587G>A, NM_001145773.1:c.1587G>T, NM_001290144.2:c.1047G>A, NM_001290144.2:c.1047G>T, NM_001290144.1:c.1047G>A, NM_001290144.1:c.1047G>T, NM_001290143.2:c.1065G>A, NM_001290143.2:c.1065G>T, NM_001290143.1:c.1065G>A, NM_001290143.1:c.1065G>T, NM_001290142.2:c.1080G>A, NM_001290142.2:c.1080G>T, NM_001290142.1:c.1080G>A, NM_001290142.1:c.1080G>T, NM_001370428.1:c.1590G>A, NM_001370428.1:c.1590G>T, NM_001370440.1:c.1572G>A, NM_001370440.1:c.1572G>T, NM_001370436.1:c.1572G>A, NM_001370436.1:c.1572G>T, NM_001370453.1:c.1047G>A, NM_001370453.1:c.1047G>T, NM_001370431.1:c.1590G>A, NM_001370431.1:c.1590G>T, NM_001370434.1:c.1587G>A, NM_001370434.1:c.1587G>T, NM_001370451.1:c.1047G>A, NM_001370451.1:c.1047G>T, NM_001370437.1:c.1572G>A, NM_001370437.1:c.1572G>T, NM_001370429.1:c.1590G>A, NM_001370429.1:c.1590G>T, NM_001370430.1:c.1590G>A, NM_001370430.1:c.1590G>T, NM_001370438.1:c.1572G>A, NM_001370438.1:c.1572G>T, NM_001370454.1:c.1047G>A, NM_001370454.1:c.1047G>T, NM_001370435.1:c.1572G>A, NM_001370435.1:c.1572G>T, NM_001370432.1:c.1590G>A, NM_001370432.1:c.1590G>T, NM_001370433.1:c.1587G>A, NM_001370433.1:c.1587G>T, NM_001370439.1:c.1572G>A, NM_001370439.1:c.1572G>T, NM_001370441.1:c.1569G>A, NM_001370441.1:c.1569G>T, NM_001370442.1:c.1416G>A, NM_001370442.1:c.1416G>T, XM_006721339.5:c.1605G>A, XM_006721339.5:c.1605G>T, XM_006721339.4:c.1605G>A, XM_006721339.4:c.1605G>T, XM_006721339.3:c.1605G>A, XM_006721339.3:c.1605G>T, XM_006721339.2:c.1605G>A, XM_006721339.2:c.1605G>T, XM_006721339.1:c.1605G>A, XM_006721339.1:c.1605G>T, XM_005256242.5:c.1605G>A, XM_005256242.5:c.1605G>T, XM_005256242.4:c.1605G>A, XM_005256242.4:c.1605G>T, XM_005256242.3:c.1605G>A, XM_005256242.3:c.1605G>T, XM_005256242.2:c.1605G>A, XM_005256242.2:c.1605G>T, XM_005256242.1:c.1605G>A, XM_005256242.1:c.1605G>T, XM_005256241.5:c.1605G>A, XM_005256241.5:c.1605G>T, XM_005256241.4:c.1605G>A, XM_005256241.4:c.1605G>T, XM_005256241.3:c.1605G>A, XM_005256241.3:c.1605G>T, XM_005256241.2:c.1605G>A, XM_005256241.2:c.1605G>T, XM_005256241.1:c.1605G>A, XM_005256241.1:c.1605G>T, XM_005256240.5:c.1605G>A, XM_005256240.5:c.1605G>T, XM_005256240.4:c.1605G>A, XM_005256240.4:c.1605G>T, XM_005256240.3:c.1605G>A, XM_005256240.3:c.1605G>T, XM_005256240.2:c.1605G>A, XM_005256240.2:c.1605G>T, XM_005256240.1:c.1605G>A, XM_005256240.1:c.1605G>T, XM_006721340.4:c.1605G>A, XM_006721340.4:c.1605G>T, XM_006721340.3:c.1605G>A, XM_006721340.3:c.1605G>T, XM_006721340.2:c.1605G>A, XM_006721340.2:c.1605G>T, XM_006721340.1:c.1605G>A, XM_006721340.1:c.1605G>T, XM_005256244.4:c.1605G>A, XM_005256244.4:c.1605G>T, XM_005256244.3:c.1605G>A, XM_005256244.3:c.1605G>T, XM_005256244.2:c.1605G>A, XM_005256244.2:c.1605G>T, XM_005256244.1:c.1605G>A, XM_005256244.1:c.1605G>T, XM_005256239.3:c.1605G>A, XM_005256239.3:c.1605G>T, XM_005256239.2:c.1605G>A, XM_005256239.2:c.1605G>T, XM_005256239.1:c.1605G>A, XM_005256239.1:c.1605G>T, XM_006721338.3:c.1605G>A, XM_006721338.3:c.1605G>T, XM_006721338.2:c.1605G>A, XM_006721338.2:c.1605G>T, XM_006721338.1:c.1605G>A, XM_006721338.1:c.1605G>T, XM_005256238.3:c.1605G>A, XM_005256238.3:c.1605G>T, XM_005256238.2:c.1605G>A, XM_005256238.2:c.1605G>T, XM_005256238.1:c.1605G>A, XM_005256238.1:c.1605G>T, XM_005256246.3:c.1590G>A, XM_005256246.3:c.1590G>T, XM_005256246.2:c.1590G>A, XM_005256246.2:c.1590G>T, XM_005256246.1:c.1590G>A, XM_005256246.1:c.1590G>T, XM_006721342.3:c.1590G>A, XM_006721342.3:c.1590G>T, XM_006721342.2:c.1590G>A, XM_006721342.2:c.1590G>T, XM_006721342.1:c.1590G>A, XM_006721342.1:c.1590G>T, XM_006721347.3:c.1587G>A, XM_006721347.3:c.1587G>T, XM_006721347.2:c.1587G>A, XM_006721347.2:c.1587G>T, XM_006721347.1:c.1587G>A, XM_006721347.1:c.1587G>T, XM_005256255.3:c.1572G>A, XM_005256255.3:c.1572G>T, XM_005256255.2:c.1572G>A, XM_005256255.2:c.1572G>T, XM_005256255.1:c.1572G>A, XM_005256255.1:c.1572G>T, XM_011523462.3:c.1605G>A, XM_011523462.3:c.1605G>T, XM_011523462.2:c.1605G>A, XM_011523462.2:c.1605G>T, XM_011523462.1:c.1605G>A, XM_011523462.1:c.1605G>T, XM_011523466.3:c.1590G>A, XM_011523466.3:c.1590G>T, XM_011523466.2:c.1590G>A, XM_011523466.2:c.1590G>T, XM_011523466.1:c.1590G>A, XM_011523466.1:c.1590G>T, XM_005256245.3:c.1605G>A, XM_005256245.3:c.1605G>T, XM_005256245.2:c.1605G>A, XM_005256245.2:c.1605G>T, XM_005256245.1:c.1605G>A, XM_005256245.1:c.1605G>T, XM_005256254.3:c.1590G>A, XM_005256254.3:c.1590G>T, XM_005256254.2:c.1590G>A, XM_005256254.2:c.1590G>T, XM_005256254.1:c.1590G>A, XM_005256254.1:c.1590G>T, XM_005256237.3:c.1605G>A, XM_005256237.3:c.1605G>T, XM_005256237.2:c.1605G>A, XM_005256237.2:c.1605G>T, XM_005256237.1:c.1605G>A, XM_005256237.1:c.1605G>T, XM_005256248.3:c.1590G>A, XM_005256248.3:c.1590G>T, XM_005256248.2:c.1590G>A, XM_005256248.2:c.1590G>T, XM_005256248.1:c.1590G>A, XM_005256248.1:c.1590G>T, XM_005256252.3:c.1590G>A, XM_005256252.3:c.1590G>T, XM_005256252.2:c.1590G>A, XM_005256252.2:c.1590G>T, XM_005256252.1:c.1590G>A, XM_005256252.1:c.1590G>T, XM_011523468.3:c.1590G>A, XM_011523468.3:c.1590G>T, XM_011523468.2:c.1590G>A, XM_011523468.2:c.1590G>T, XM_011523468.1:c.1590G>A, XM_011523468.1:c.1590G>T, XM_017023892.2:c.1572G>A, XM_017023892.2:c.1572G>T, XM_017023892.1:c.1572G>A, XM_017023892.1:c.1572G>T, XM_047434909.1:c.1587G>A, XM_047434909.1:c.1587G>T, XM_047434911.1:c.1587G>A, XM_047434911.1:c.1587G>T, XM_047434907.1:c.1587G>A, XM_047434907.1:c.1587G>T, XM_047434906.1:c.1605G>A, XM_047434906.1:c.1605G>T, XM_047434913.1:c.1572G>A, XM_047434913.1:c.1572G>T, XM_047434910.1:c.1587G>A, XM_047434910.1:c.1587G>T, XM_047434908.1:c.1587G>A, XM_047434908.1:c.1587G>T, XM_047434914.1:c.1572G>A, XM_047434914.1:c.1572G>T, XM_047434912.1:c.1587G>A, XM_047434912.1:c.1587G>T, XM_047434915.1:c.1572G>A, XM_047434915.1:c.1572G>T, XM_047434916.1:c.1572G>A, XM_047434916.1:c.1572G>T

                                    18.

                                    rs1459264714 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      16:57659585 (GRCh38)
                                      16:57693497 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57659584:A:C,NC_000016.10:57659584:A:T
                                      Gene:
                                      ADGRG1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.57659585A>C, NC_000016.10:g.57659585A>T, NC_000016.9:g.57693497A>C, NC_000016.9:g.57693497A>T, NG_011643.1:g.44588A>C, NG_011643.1:g.44588A>T, NM_005682.7:c.1477A>C, NM_005682.7:c.1477A>T, NM_005682.6:c.1477A>C, NM_005682.6:c.1477A>T, NM_005682.5:c.1477A>C, NM_005682.5:c.1477A>T, NM_201524.4:c.1459A>C, NM_201524.4:c.1459A>T, NM_201524.3:c.1459A>C, NM_201524.3:c.1459A>T, NM_201524.2:c.1459A>C, NM_201524.2:c.1459A>T, NM_201525.4:c.1459A>C, NM_201525.4:c.1459A>T, NM_201525.3:c.1459A>C, NM_201525.3:c.1459A>T, NM_201525.2:c.1459A>C, NM_201525.2:c.1459A>T, NM_001145772.3:c.1459A>C, NM_001145772.3:c.1459A>T, NM_001145772.2:c.1459A>C, NM_001145772.2:c.1459A>T, NM_001145772.1:c.1459A>C, NM_001145772.1:c.1459A>T, NM_001145771.3:c.1477A>C, NM_001145771.3:c.1477A>T, NM_001145771.2:c.1477A>C, NM_001145771.2:c.1477A>T, NM_001145771.1:c.1477A>C, NM_001145771.1:c.1477A>T, NM_001145774.3:c.1459A>C, NM_001145774.3:c.1459A>T, NM_001145774.2:c.1459A>C, NM_001145774.2:c.1459A>T, NM_001145774.1:c.1459A>C, NM_001145774.1:c.1459A>T, NM_001145770.3:c.1459A>C, NM_001145770.3:c.1459A>T, NM_001145770.2:c.1459A>C, NM_001145770.2:c.1459A>T, NM_001145770.1:c.1459A>C, NM_001145770.1:c.1459A>T, NM_001145773.3:c.1474A>C, NM_001145773.3:c.1474A>T, NM_001145773.2:c.1474A>C, NM_001145773.2:c.1474A>T, NM_001145773.1:c.1474A>C, NM_001145773.1:c.1474A>T, NM_001290144.2:c.934A>C, NM_001290144.2:c.934A>T, NM_001290144.1:c.934A>C, NM_001290144.1:c.934A>T, NM_001290143.2:c.952A>C, NM_001290143.2:c.952A>T, NM_001290143.1:c.952A>C, NM_001290143.1:c.952A>T, NM_001290142.2:c.967A>C, NM_001290142.2:c.967A>T, NM_001290142.1:c.967A>C, NM_001290142.1:c.967A>T, NM_001370428.1:c.1477A>C, NM_001370428.1:c.1477A>T, NM_001370440.1:c.1459A>C, NM_001370440.1:c.1459A>T, NM_001370436.1:c.1459A>C, NM_001370436.1:c.1459A>T, NM_001370453.1:c.934A>C, NM_001370453.1:c.934A>T, NM_001370431.1:c.1477A>C, NM_001370431.1:c.1477A>T, NM_001370434.1:c.1474A>C, NM_001370434.1:c.1474A>T, NM_001370451.1:c.934A>C, NM_001370451.1:c.934A>T, NM_001370437.1:c.1459A>C, NM_001370437.1:c.1459A>T, NM_001370429.1:c.1477A>C, NM_001370429.1:c.1477A>T, NM_001370430.1:c.1477A>C, NM_001370430.1:c.1477A>T, NM_001370438.1:c.1459A>C, NM_001370438.1:c.1459A>T, NM_001370454.1:c.934A>C, NM_001370454.1:c.934A>T, NM_001370435.1:c.1459A>C, NM_001370435.1:c.1459A>T, NM_001370432.1:c.1477A>C, NM_001370432.1:c.1477A>T, NM_001370433.1:c.1474A>C, NM_001370433.1:c.1474A>T, NM_001370439.1:c.1459A>C, NM_001370439.1:c.1459A>T, NM_001370441.1:c.1456A>C, NM_001370441.1:c.1456A>T, NM_001370442.1:c.1303A>C, NM_001370442.1:c.1303A>T, XM_006721339.5:c.1492A>C, XM_006721339.5:c.1492A>T, XM_006721339.4:c.1492A>C, XM_006721339.4:c.1492A>T, XM_006721339.3:c.1492A>C, XM_006721339.3:c.1492A>T, XM_006721339.2:c.1492A>C, XM_006721339.2:c.1492A>T, XM_006721339.1:c.1492A>C, XM_006721339.1:c.1492A>T, XM_005256242.5:c.1492A>C, XM_005256242.5:c.1492A>T, XM_005256242.4:c.1492A>C, XM_005256242.4:c.1492A>T, XM_005256242.3:c.1492A>C, XM_005256242.3:c.1492A>T, XM_005256242.2:c.1492A>C, XM_005256242.2:c.1492A>T, XM_005256242.1:c.1492A>C, XM_005256242.1:c.1492A>T, XM_005256241.5:c.1492A>C, XM_005256241.5:c.1492A>T, XM_005256241.4:c.1492A>C, XM_005256241.4:c.1492A>T, XM_005256241.3:c.1492A>C, XM_005256241.3:c.1492A>T, XM_005256241.2:c.1492A>C, XM_005256241.2:c.1492A>T, XM_005256241.1:c.1492A>C, XM_005256241.1:c.1492A>T, XM_005256240.5:c.1492A>C, XM_005256240.5:c.1492A>T, XM_005256240.4:c.1492A>C, XM_005256240.4:c.1492A>T, XM_005256240.3:c.1492A>C, XM_005256240.3:c.1492A>T, XM_005256240.2:c.1492A>C, XM_005256240.2:c.1492A>T, XM_005256240.1:c.1492A>C, XM_005256240.1:c.1492A>T, XM_006721340.4:c.1492A>C, XM_006721340.4:c.1492A>T, XM_006721340.3:c.1492A>C, XM_006721340.3:c.1492A>T, XM_006721340.2:c.1492A>C, XM_006721340.2:c.1492A>T, XM_006721340.1:c.1492A>C, XM_006721340.1:c.1492A>T, XM_005256244.4:c.1492A>C, XM_005256244.4:c.1492A>T, XM_005256244.3:c.1492A>C, XM_005256244.3:c.1492A>T, XM_005256244.2:c.1492A>C, XM_005256244.2:c.1492A>T, XM_005256244.1:c.1492A>C, XM_005256244.1:c.1492A>T, XM_005256239.3:c.1492A>C, XM_005256239.3:c.1492A>T, XM_005256239.2:c.1492A>C, XM_005256239.2:c.1492A>T, XM_005256239.1:c.1492A>C, XM_005256239.1:c.1492A>T, XM_006721338.3:c.1492A>C, XM_006721338.3:c.1492A>T, XM_006721338.2:c.1492A>C, XM_006721338.2:c.1492A>T, XM_006721338.1:c.1492A>C, XM_006721338.1:c.1492A>T, XM_005256238.3:c.1492A>C, XM_005256238.3:c.1492A>T, XM_005256238.2:c.1492A>C, XM_005256238.2:c.1492A>T, XM_005256238.1:c.1492A>C, XM_005256238.1:c.1492A>T, XM_005256246.3:c.1477A>C, XM_005256246.3:c.1477A>T, XM_005256246.2:c.1477A>C, XM_005256246.2:c.1477A>T, XM_005256246.1:c.1477A>C, XM_005256246.1:c.1477A>T, XM_006721342.3:c.1477A>C, XM_006721342.3:c.1477A>T, XM_006721342.2:c.1477A>C, XM_006721342.2:c.1477A>T, XM_006721342.1:c.1477A>C, XM_006721342.1:c.1477A>T, XM_006721347.3:c.1474A>C, XM_006721347.3:c.1474A>T, XM_006721347.2:c.1474A>C, XM_006721347.2:c.1474A>T, XM_006721347.1:c.1474A>C, XM_006721347.1:c.1474A>T, XM_005256255.3:c.1459A>C, XM_005256255.3:c.1459A>T, XM_005256255.2:c.1459A>C, XM_005256255.2:c.1459A>T, XM_005256255.1:c.1459A>C, XM_005256255.1:c.1459A>T, XM_011523462.3:c.1492A>C, XM_011523462.3:c.1492A>T, XM_011523462.2:c.1492A>C, XM_011523462.2:c.1492A>T, XM_011523462.1:c.1492A>C, XM_011523462.1:c.1492A>T, XM_011523466.3:c.1477A>C, XM_011523466.3:c.1477A>T, XM_011523466.2:c.1477A>C, XM_011523466.2:c.1477A>T, XM_011523466.1:c.1477A>C, XM_011523466.1:c.1477A>T, XM_005256245.3:c.1492A>C, XM_005256245.3:c.1492A>T, XM_005256245.2:c.1492A>C, XM_005256245.2:c.1492A>T, XM_005256245.1:c.1492A>C, XM_005256245.1:c.1492A>T, XM_005256254.3:c.1477A>C, XM_005256254.3:c.1477A>T, XM_005256254.2:c.1477A>C, XM_005256254.2:c.1477A>T, XM_005256254.1:c.1477A>C, XM_005256254.1:c.1477A>T, XM_005256237.3:c.1492A>C, XM_005256237.3:c.1492A>T, XM_005256237.2:c.1492A>C, XM_005256237.2:c.1492A>T, XM_005256237.1:c.1492A>C, XM_005256237.1:c.1492A>T, XM_005256248.3:c.1477A>C, XM_005256248.3:c.1477A>T, XM_005256248.2:c.1477A>C, XM_005256248.2:c.1477A>T, XM_005256248.1:c.1477A>C, XM_005256248.1:c.1477A>T, XM_005256252.3:c.1477A>C, XM_005256252.3:c.1477A>T, XM_005256252.2:c.1477A>C, XM_005256252.2:c.1477A>T, XM_005256252.1:c.1477A>C, XM_005256252.1:c.1477A>T, XM_011523468.3:c.1477A>C, XM_011523468.3:c.1477A>T, XM_011523468.2:c.1477A>C, XM_011523468.2:c.1477A>T, XM_011523468.1:c.1477A>C, XM_011523468.1:c.1477A>T, XM_017023892.2:c.1459A>C, XM_017023892.2:c.1459A>T, XM_017023892.1:c.1459A>C, XM_017023892.1:c.1459A>T, XM_047434909.1:c.1474A>C, XM_047434909.1:c.1474A>T, XM_047434911.1:c.1474A>C, XM_047434911.1:c.1474A>T, XM_047434907.1:c.1474A>C, XM_047434907.1:c.1474A>T, XM_047434906.1:c.1492A>C, XM_047434906.1:c.1492A>T, XM_047434913.1:c.1459A>C, XM_047434913.1:c.1459A>T, XM_047434910.1:c.1474A>C, XM_047434910.1:c.1474A>T, XM_047434908.1:c.1474A>C, XM_047434908.1:c.1474A>T, XM_047434914.1:c.1459A>C, XM_047434914.1:c.1459A>T, XM_047434912.1:c.1474A>C, XM_047434912.1:c.1474A>T, XM_047434915.1:c.1459A>C, XM_047434915.1:c.1459A>T, XM_047434916.1:c.1459A>C, XM_047434916.1:c.1459A>T, NP_005673.3:p.Met493Leu, NP_005673.3:p.Met493Leu, NP_958932.1:p.Met487Leu, NP_958932.1:p.Met487Leu, NP_958933.1:p.Met487Leu, NP_958933.1:p.Met487Leu, NP_001139244.1:p.Met487Leu, NP_001139244.1:p.Met487Leu, NP_001139243.1:p.Met493Leu, NP_001139243.1:p.Met493Leu, NP_001139246.1:p.Met487Leu, NP_001139246.1:p.Met487Leu, NP_001139242.1:p.Met487Leu, NP_001139242.1:p.Met487Leu, NP_001139245.1:p.Met492Leu, NP_001139245.1:p.Met492Leu, NP_001277073.1:p.Met312Leu, NP_001277073.1:p.Met312Leu, NP_001277072.1:p.Met318Leu, NP_001277072.1:p.Met318Leu, NP_001277071.1:p.Met323Leu, NP_001277071.1:p.Met323Leu, NP_001357357.1:p.Met493Leu, NP_001357357.1:p.Met493Leu, NP_001357369.1:p.Met487Leu, NP_001357369.1:p.Met487Leu, NP_001357365.1:p.Met487Leu, NP_001357365.1:p.Met487Leu, NP_001357382.1:p.Met312Leu, NP_001357382.1:p.Met312Leu, NP_001357360.1:p.Met493Leu, NP_001357360.1:p.Met493Leu, NP_001357363.1:p.Met492Leu, NP_001357363.1:p.Met492Leu, NP_001357380.1:p.Met312Leu, NP_001357380.1:p.Met312Leu, NP_001357366.1:p.Met487Leu, NP_001357366.1:p.Met487Leu, NP_001357358.1:p.Met493Leu, NP_001357358.1:p.Met493Leu, NP_001357359.1:p.Met493Leu, NP_001357359.1:p.Met493Leu, NP_001357367.1:p.Met487Leu, NP_001357367.1:p.Met487Leu, NP_001357383.1:p.Met312Leu, NP_001357383.1:p.Met312Leu, NP_001357364.1:p.Met487Leu, NP_001357364.1:p.Met487Leu, NP_001357361.1:p.Met493Leu, NP_001357361.1:p.Met493Leu, NP_001357362.1:p.Met492Leu, NP_001357362.1:p.Met492Leu, NP_001357368.1:p.Met487Leu, NP_001357368.1:p.Met487Leu, NP_001357370.1:p.Met486Leu, NP_001357370.1:p.Met486Leu, NP_001357371.1:p.Met435Leu, NP_001357371.1:p.Met435Leu, XP_006721402.1:p.Met498Leu, XP_006721402.1:p.Met498Leu, XP_005256299.1:p.Met498Leu, XP_005256299.1:p.Met498Leu, XP_005256298.1:p.Met498Leu, XP_005256298.1:p.Met498Leu, XP_005256297.1:p.Met498Leu, XP_005256297.1:p.Met498Leu, XP_006721403.1:p.Met498Leu, XP_006721403.1:p.Met498Leu, XP_005256301.1:p.Met498Leu, XP_005256301.1:p.Met498Leu, XP_005256296.1:p.Met498Leu, XP_005256296.1:p.Met498Leu, XP_006721401.1:p.Met498Leu, XP_006721401.1:p.Met498Leu, XP_005256295.1:p.Met498Leu, XP_005256295.1:p.Met498Leu, XP_005256303.1:p.Met493Leu, XP_005256303.1:p.Met493Leu, XP_006721405.1:p.Met493Leu, XP_006721405.1:p.Met493Leu, XP_006721410.1:p.Met492Leu, XP_006721410.1:p.Met492Leu, XP_005256312.1:p.Met487Leu, XP_005256312.1:p.Met487Leu, XP_011521764.1:p.Met498Leu, XP_011521764.1:p.Met498Leu, XP_011521768.1:p.Met493Leu, XP_011521768.1:p.Met493Leu, XP_005256302.1:p.Met498Leu, XP_005256302.1:p.Met498Leu, XP_005256311.1:p.Met493Leu, XP_005256311.1:p.Met493Leu, XP_005256294.1:p.Met498Leu, XP_005256294.1:p.Met498Leu, XP_005256305.1:p.Met493Leu, XP_005256305.1:p.Met493Leu, XP_005256309.1:p.Met493Leu, XP_005256309.1:p.Met493Leu, XP_011521770.1:p.Met493Leu, XP_011521770.1:p.Met493Leu, XP_016879381.1:p.Met487Leu, XP_016879381.1:p.Met487Leu, XP_047290865.1:p.Met492Leu, XP_047290865.1:p.Met492Leu, XP_047290867.1:p.Met492Leu, XP_047290867.1:p.Met492Leu, XP_047290863.1:p.Met492Leu, XP_047290863.1:p.Met492Leu, XP_047290862.1:p.Met498Leu, XP_047290862.1:p.Met498Leu, XP_047290869.1:p.Met487Leu, XP_047290869.1:p.Met487Leu, XP_047290866.1:p.Met492Leu, XP_047290866.1:p.Met492Leu, XP_047290864.1:p.Met492Leu, XP_047290864.1:p.Met492Leu, XP_047290870.1:p.Met487Leu, XP_047290870.1:p.Met487Leu, XP_047290868.1:p.Met492Leu, XP_047290868.1:p.Met492Leu, XP_047290871.1:p.Met487Leu, XP_047290871.1:p.Met487Leu, XP_047290872.1:p.Met487Leu, XP_047290872.1:p.Met487Leu

                                      19.

                                      rs1458919372 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        16:57659525 (GRCh38)
                                        16:57693437 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57659524:G:T
                                        Gene:
                                        ADGRG1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.57659525G>T, NC_000016.9:g.57693437G>T, NG_011643.1:g.44528G>T, NM_005682.7:c.1417G>T, NM_005682.6:c.1417G>T, NM_005682.5:c.1417G>T, NM_201524.4:c.1399G>T, NM_201524.3:c.1399G>T, NM_201524.2:c.1399G>T, NM_201525.4:c.1399G>T, NM_201525.3:c.1399G>T, NM_201525.2:c.1399G>T, NM_001145772.3:c.1399G>T, NM_001145772.2:c.1399G>T, NM_001145772.1:c.1399G>T, NM_001145771.3:c.1417G>T, NM_001145771.2:c.1417G>T, NM_001145771.1:c.1417G>T, NM_001145774.3:c.1399G>T, NM_001145774.2:c.1399G>T, NM_001145774.1:c.1399G>T, NM_001145770.3:c.1399G>T, NM_001145770.2:c.1399G>T, NM_001145770.1:c.1399G>T, NM_001145773.3:c.1414G>T, NM_001145773.2:c.1414G>T, NM_001145773.1:c.1414G>T, NM_001290144.2:c.874G>T, NM_001290144.1:c.874G>T, NM_001290143.2:c.892G>T, NM_001290143.1:c.892G>T, NM_001290142.2:c.907G>T, NM_001290142.1:c.907G>T, NM_001370428.1:c.1417G>T, NM_001370440.1:c.1399G>T, NM_001370436.1:c.1399G>T, NM_001370453.1:c.874G>T, NM_001370431.1:c.1417G>T, NM_001370434.1:c.1414G>T, NM_001370451.1:c.874G>T, NM_001370437.1:c.1399G>T, NM_001370429.1:c.1417G>T, NM_001370430.1:c.1417G>T, NM_001370438.1:c.1399G>T, NM_001370454.1:c.874G>T, NM_001370435.1:c.1399G>T, NM_001370432.1:c.1417G>T, NM_001370433.1:c.1414G>T, NM_001370439.1:c.1399G>T, NM_001370441.1:c.1396G>T, NM_001370442.1:c.1243G>T, XM_006721339.5:c.1432G>T, XM_006721339.4:c.1432G>T, XM_006721339.3:c.1432G>T, XM_006721339.2:c.1432G>T, XM_006721339.1:c.1432G>T, XM_005256242.5:c.1432G>T, XM_005256242.4:c.1432G>T, XM_005256242.3:c.1432G>T, XM_005256242.2:c.1432G>T, XM_005256242.1:c.1432G>T, XM_005256241.5:c.1432G>T, XM_005256241.4:c.1432G>T, XM_005256241.3:c.1432G>T, XM_005256241.2:c.1432G>T, XM_005256241.1:c.1432G>T, XM_005256240.5:c.1432G>T, XM_005256240.4:c.1432G>T, XM_005256240.3:c.1432G>T, XM_005256240.2:c.1432G>T, XM_005256240.1:c.1432G>T, XM_006721340.4:c.1432G>T, XM_006721340.3:c.1432G>T, XM_006721340.2:c.1432G>T, XM_006721340.1:c.1432G>T, XM_005256244.4:c.1432G>T, XM_005256244.3:c.1432G>T, XM_005256244.2:c.1432G>T, XM_005256244.1:c.1432G>T, XM_005256239.3:c.1432G>T, XM_005256239.2:c.1432G>T, XM_005256239.1:c.1432G>T, XM_006721338.3:c.1432G>T, XM_006721338.2:c.1432G>T, XM_006721338.1:c.1432G>T, XM_005256238.3:c.1432G>T, XM_005256238.2:c.1432G>T, XM_005256238.1:c.1432G>T, XM_005256246.3:c.1417G>T, XM_005256246.2:c.1417G>T, XM_005256246.1:c.1417G>T, XM_006721342.3:c.1417G>T, XM_006721342.2:c.1417G>T, XM_006721342.1:c.1417G>T, XM_006721347.3:c.1414G>T, XM_006721347.2:c.1414G>T, XM_006721347.1:c.1414G>T, XM_005256255.3:c.1399G>T, XM_005256255.2:c.1399G>T, XM_005256255.1:c.1399G>T, XM_011523462.3:c.1432G>T, XM_011523462.2:c.1432G>T, XM_011523462.1:c.1432G>T, XM_011523466.3:c.1417G>T, XM_011523466.2:c.1417G>T, XM_011523466.1:c.1417G>T, XM_005256245.3:c.1432G>T, XM_005256245.2:c.1432G>T, XM_005256245.1:c.1432G>T, XM_005256254.3:c.1417G>T, XM_005256254.2:c.1417G>T, XM_005256254.1:c.1417G>T, XM_005256237.3:c.1432G>T, XM_005256237.2:c.1432G>T, XM_005256237.1:c.1432G>T, XM_005256248.3:c.1417G>T, XM_005256248.2:c.1417G>T, XM_005256248.1:c.1417G>T, XM_005256252.3:c.1417G>T, XM_005256252.2:c.1417G>T, XM_005256252.1:c.1417G>T, XM_011523468.3:c.1417G>T, XM_011523468.2:c.1417G>T, XM_011523468.1:c.1417G>T, XM_017023892.2:c.1399G>T, XM_017023892.1:c.1399G>T, XM_047434909.1:c.1414G>T, XM_047434911.1:c.1414G>T, XM_047434907.1:c.1414G>T, XM_047434906.1:c.1432G>T, XM_047434913.1:c.1399G>T, XM_047434910.1:c.1414G>T, XM_047434908.1:c.1414G>T, XM_047434914.1:c.1399G>T, XM_047434912.1:c.1414G>T, XM_047434915.1:c.1399G>T, XM_047434916.1:c.1399G>T, NP_005673.3:p.Ala473Ser, NP_958932.1:p.Ala467Ser, NP_958933.1:p.Ala467Ser, NP_001139244.1:p.Ala467Ser, NP_001139243.1:p.Ala473Ser, NP_001139246.1:p.Ala467Ser, NP_001139242.1:p.Ala467Ser, NP_001139245.1:p.Ala472Ser, NP_001277073.1:p.Ala292Ser, NP_001277072.1:p.Ala298Ser, NP_001277071.1:p.Ala303Ser, NP_001357357.1:p.Ala473Ser, NP_001357369.1:p.Ala467Ser, NP_001357365.1:p.Ala467Ser, NP_001357382.1:p.Ala292Ser, NP_001357360.1:p.Ala473Ser, NP_001357363.1:p.Ala472Ser, NP_001357380.1:p.Ala292Ser, NP_001357366.1:p.Ala467Ser, NP_001357358.1:p.Ala473Ser, NP_001357359.1:p.Ala473Ser, NP_001357367.1:p.Ala467Ser, NP_001357383.1:p.Ala292Ser, NP_001357364.1:p.Ala467Ser, NP_001357361.1:p.Ala473Ser, NP_001357362.1:p.Ala472Ser, NP_001357368.1:p.Ala467Ser, NP_001357370.1:p.Ala466Ser, NP_001357371.1:p.Ala415Ser, XP_006721402.1:p.Ala478Ser, XP_005256299.1:p.Ala478Ser, XP_005256298.1:p.Ala478Ser, XP_005256297.1:p.Ala478Ser, XP_006721403.1:p.Ala478Ser, XP_005256301.1:p.Ala478Ser, XP_005256296.1:p.Ala478Ser, XP_006721401.1:p.Ala478Ser, XP_005256295.1:p.Ala478Ser, XP_005256303.1:p.Ala473Ser, XP_006721405.1:p.Ala473Ser, XP_006721410.1:p.Ala472Ser, XP_005256312.1:p.Ala467Ser, XP_011521764.1:p.Ala478Ser, XP_011521768.1:p.Ala473Ser, XP_005256302.1:p.Ala478Ser, XP_005256311.1:p.Ala473Ser, XP_005256294.1:p.Ala478Ser, XP_005256305.1:p.Ala473Ser, XP_005256309.1:p.Ala473Ser, XP_011521770.1:p.Ala473Ser, XP_016879381.1:p.Ala467Ser, XP_047290865.1:p.Ala472Ser, XP_047290867.1:p.Ala472Ser, XP_047290863.1:p.Ala472Ser, XP_047290862.1:p.Ala478Ser, XP_047290869.1:p.Ala467Ser, XP_047290866.1:p.Ala472Ser, XP_047290864.1:p.Ala472Ser, XP_047290870.1:p.Ala467Ser, XP_047290868.1:p.Ala472Ser, XP_047290871.1:p.Ala467Ser, XP_047290872.1:p.Ala467Ser

                                        20.

                                        rs1456948551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:57653319 (GRCh38)
                                          16:57687231 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57653318:G:A
                                          Gene:
                                          ADGRG1 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000016.10:g.57653319G>A, NC_000016.9:g.57687231G>A, NG_011643.1:g.38322G>A, NM_005682.7:c.604G>A, NM_005682.6:c.604G>A, NM_005682.5:c.604G>A, NM_201524.4:c.604G>A, NM_201524.3:c.604G>A, NM_201524.2:c.604G>A, NM_201525.4:c.604G>A, NM_201525.3:c.604G>A, NM_201525.2:c.604G>A, NM_001145772.3:c.604G>A, NM_001145772.2:c.604G>A, NM_001145772.1:c.604G>A, NM_001145771.3:c.604G>A, NM_001145771.2:c.604G>A, NM_001145771.1:c.604G>A, NM_001145774.3:c.604G>A, NM_001145774.2:c.604G>A, NM_001145774.1:c.604G>A, NM_001145770.3:c.604G>A, NM_001145770.2:c.604G>A, NM_001145770.1:c.604G>A, NM_001145773.3:c.619G>A, NM_001145773.2:c.619G>A, NM_001145773.1:c.619G>A, NM_001290144.2:c.79G>A, NM_001290144.1:c.79G>A, NM_001290143.2:c.79G>A, NM_001290143.1:c.79G>A, NM_001370428.1:c.604G>A, NM_001370440.1:c.604G>A, NM_001370436.1:c.604G>A, NM_001370453.1:c.79G>A, NM_001370431.1:c.604G>A, NM_001370434.1:c.604G>A, NM_001370451.1:c.79G>A, NM_001370437.1:c.604G>A, NM_001370429.1:c.604G>A, NM_001370430.1:c.604G>A, NM_001370438.1:c.604G>A, NM_001370454.1:c.79G>A, NM_001370435.1:c.604G>A, NM_001370432.1:c.604G>A, NM_001370433.1:c.619G>A, NM_001370439.1:c.604G>A, NM_001370441.1:c.604G>A, NM_001370442.1:c.448G>A, XM_006721339.5:c.619G>A, XM_006721339.4:c.619G>A, XM_006721339.3:c.619G>A, XM_006721339.2:c.619G>A, XM_006721339.1:c.619G>A, XM_005256242.5:c.619G>A, XM_005256242.4:c.619G>A, XM_005256242.3:c.619G>A, XM_005256242.2:c.619G>A, XM_005256242.1:c.619G>A, XM_005256241.5:c.619G>A, XM_005256241.4:c.619G>A, XM_005256241.3:c.619G>A, XM_005256241.2:c.619G>A, XM_005256241.1:c.619G>A, XM_005256240.5:c.619G>A, XM_005256240.4:c.619G>A, XM_005256240.3:c.619G>A, XM_005256240.2:c.619G>A, XM_005256240.1:c.619G>A, XM_006721340.4:c.619G>A, XM_006721340.3:c.619G>A, XM_006721340.2:c.619G>A, XM_006721340.1:c.619G>A, XM_005256244.4:c.619G>A, XM_005256244.3:c.619G>A, XM_005256244.2:c.619G>A, XM_005256244.1:c.619G>A, XM_005256239.3:c.619G>A, XM_005256239.2:c.619G>A, XM_005256239.1:c.619G>A, XM_006721338.3:c.619G>A, XM_006721338.2:c.619G>A, XM_006721338.1:c.619G>A, XM_005256238.3:c.619G>A, XM_005256238.2:c.619G>A, XM_005256238.1:c.619G>A, XM_005256246.3:c.604G>A, XM_005256246.2:c.604G>A, XM_005256246.1:c.604G>A, XM_006721342.3:c.604G>A, XM_006721342.2:c.604G>A, XM_006721342.1:c.604G>A, XM_006721347.3:c.619G>A, XM_006721347.2:c.619G>A, XM_006721347.1:c.619G>A, XM_005256255.3:c.604G>A, XM_005256255.2:c.604G>A, XM_005256255.1:c.604G>A, XM_011523462.3:c.619G>A, XM_011523462.2:c.619G>A, XM_011523462.1:c.619G>A, XM_011523466.3:c.604G>A, XM_011523466.2:c.604G>A, XM_011523466.1:c.604G>A, XM_005256245.3:c.619G>A, XM_005256245.2:c.619G>A, XM_005256245.1:c.619G>A, XM_005256254.3:c.604G>A, XM_005256254.2:c.604G>A, XM_005256254.1:c.604G>A, XM_005256237.3:c.619G>A, XM_005256237.2:c.619G>A, XM_005256237.1:c.619G>A, XM_005256248.3:c.604G>A, XM_005256248.2:c.604G>A, XM_005256248.1:c.604G>A, XM_005256252.3:c.604G>A, XM_005256252.2:c.604G>A, XM_005256252.1:c.604G>A, XM_011523468.3:c.604G>A, XM_011523468.2:c.604G>A, XM_011523468.1:c.604G>A, XM_017023892.2:c.604G>A, XM_017023892.1:c.604G>A, XM_047434909.1:c.619G>A, XM_047434911.1:c.619G>A, XM_047434907.1:c.619G>A, XM_047434906.1:c.619G>A, XM_047434913.1:c.604G>A, XM_047434910.1:c.619G>A, XM_047434908.1:c.619G>A, XM_047434914.1:c.604G>A, XM_047434912.1:c.619G>A, XM_047434915.1:c.604G>A, XM_047434916.1:c.604G>A, NP_005673.3:p.Ala202Thr, NP_958932.1:p.Ala202Thr, NP_958933.1:p.Ala202Thr, NP_001139244.1:p.Ala202Thr, NP_001139243.1:p.Ala202Thr, NP_001139246.1:p.Ala202Thr, NP_001139242.1:p.Ala202Thr, NP_001139245.1:p.Ala207Thr, NP_001277073.1:p.Ala27Thr, NP_001277072.1:p.Ala27Thr, NP_001357357.1:p.Ala202Thr, NP_001357369.1:p.Ala202Thr, NP_001357365.1:p.Ala202Thr, NP_001357382.1:p.Ala27Thr, NP_001357360.1:p.Ala202Thr, NP_001357363.1:p.Ala202Thr, NP_001357380.1:p.Ala27Thr, NP_001357366.1:p.Ala202Thr, NP_001357358.1:p.Ala202Thr, NP_001357359.1:p.Ala202Thr, NP_001357367.1:p.Ala202Thr, NP_001357383.1:p.Ala27Thr, NP_001357364.1:p.Ala202Thr, NP_001357361.1:p.Ala202Thr, NP_001357362.1:p.Ala207Thr, NP_001357368.1:p.Ala202Thr, NP_001357370.1:p.Ala202Thr, NP_001357371.1:p.Ala150Thr, XP_006721402.1:p.Ala207Thr, XP_005256299.1:p.Ala207Thr, XP_005256298.1:p.Ala207Thr, XP_005256297.1:p.Ala207Thr, XP_006721403.1:p.Ala207Thr, XP_005256301.1:p.Ala207Thr, XP_005256296.1:p.Ala207Thr, XP_006721401.1:p.Ala207Thr, XP_005256295.1:p.Ala207Thr, XP_005256303.1:p.Ala202Thr, XP_006721405.1:p.Ala202Thr, XP_006721410.1:p.Ala207Thr, XP_005256312.1:p.Ala202Thr, XP_011521764.1:p.Ala207Thr, XP_011521768.1:p.Ala202Thr, XP_005256302.1:p.Ala207Thr, XP_005256311.1:p.Ala202Thr, XP_005256294.1:p.Ala207Thr, XP_005256305.1:p.Ala202Thr, XP_005256309.1:p.Ala202Thr, XP_011521770.1:p.Ala202Thr, XP_016879381.1:p.Ala202Thr, XP_047290865.1:p.Ala207Thr, XP_047290867.1:p.Ala207Thr, XP_047290863.1:p.Ala207Thr, XP_047290862.1:p.Ala207Thr, XP_047290869.1:p.Ala202Thr, XP_047290866.1:p.Ala207Thr, XP_047290864.1:p.Ala207Thr, XP_047290870.1:p.Ala202Thr, XP_047290868.1:p.Ala207Thr, XP_047290871.1:p.Ala202Thr, XP_047290872.1:p.Ala202Thr

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