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Items: 1 to 20 of 1457

1.

rs1490497189 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:31742887 (GRCh38)
    1:32208488 (GRCh37)
    Canonical SPDI:
    NC_000001.11:31742886:G:A
    Gene:
    ADGRB2 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000001.11:g.31742887G>A, NC_000001.10:g.32208488G>A, XM_011541858.3:c.294C>T, XM_011541858.2:c.294C>T, XM_011541858.1:c.294C>T, XM_017001899.2:c.1203C>T, XM_017001899.1:c.1203C>T, NM_001364857.2:c.1203C>T, NM_001364857.1:c.1203C>T, NM_001294335.2:c.1203C>T, NM_001294335.1:c.1203C>T, NM_001294336.2:c.1203C>T, NM_001294336.1:c.1203C>T, XM_017001900.2:c.1203C>T, XM_017001900.1:c.1203C>T, XM_024448673.2:c.1167C>T, XM_024448673.1:c.1167C>T, XM_017001901.2:c.1203C>T, XM_017001901.1:c.1203C>T, XM_017001902.2:c.1203C>T, XM_017001902.1:c.1203C>T, XM_017001903.2:c.1203C>T, XM_017001903.1:c.1203C>T, NM_001703.2:c.1203C>T, XM_017001905.2:c.1203C>T, XM_017001905.1:c.1203C>T, XM_017001906.2:c.1203C>T, XM_017001906.1:c.1203C>T, XM_017001908.2:c.1038C>T, XM_017001908.1:c.1038C>T, XM_017001909.2:c.1038C>T, XM_017001909.1:c.1038C>T, XM_017001910.2:c.1038C>T, XM_017001910.1:c.1038C>T, XM_017001911.2:c.1038C>T, XM_017001911.1:c.1038C>T, XM_047426178.1:c.1203C>T, XM_047426173.1:c.1203C>T, XM_047426179.1:c.1203C>T, XM_047426184.1:c.1203C>T, XM_047426185.1:c.1203C>T, XM_047426191.1:c.1203C>T

    2.

    rs1489993435 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:31741919 (GRCh38)
      1:32207520 (GRCh37)
      Canonical SPDI:
      NC_000001.11:31741918:T:C
      Gene:
      ADGRB2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.31741919T>C, NC_000001.10:g.32207520T>C, XM_011541858.3:c.557A>G, XM_011541858.2:c.557A>G, XM_011541858.1:c.557A>G, XM_017001899.2:c.1466A>G, XM_017001899.1:c.1466A>G, NM_001364857.2:c.1466A>G, NM_001364857.1:c.1466A>G, NM_001294335.2:c.1466A>G, NM_001294335.1:c.1466A>G, NM_001294336.2:c.1466A>G, NM_001294336.1:c.1466A>G, XM_017001900.2:c.1466A>G, XM_017001900.1:c.1466A>G, XM_024448673.2:c.1430A>G, XM_024448673.1:c.1430A>G, XM_017001901.2:c.1466A>G, XM_017001901.1:c.1466A>G, XM_017001902.2:c.1466A>G, XM_017001902.1:c.1466A>G, XM_017001903.2:c.1466A>G, XM_017001903.1:c.1466A>G, NM_001703.2:c.1466A>G, XM_017001905.2:c.1466A>G, XM_017001905.1:c.1466A>G, XM_017001906.2:c.1466A>G, XM_017001906.1:c.1466A>G, XM_017001908.2:c.1301A>G, XM_017001908.1:c.1301A>G, XM_017001909.2:c.1301A>G, XM_017001909.1:c.1301A>G, XM_017001910.2:c.1301A>G, XM_017001910.1:c.1301A>G, XM_017001911.2:c.1301A>G, XM_017001911.1:c.1301A>G, XM_017001912.2:c.1136A>G, XM_017001912.1:c.1136A>G, XM_047426188.1:c.1265A>G, XM_047426178.1:c.1466A>G, XM_047426173.1:c.1466A>G, XM_047426180.1:c.1301A>G, XM_047426186.1:c.1301A>G, XM_047426181.1:c.1301A>G, XM_047426179.1:c.1466A>G, XM_047426182.1:c.1301A>G, XM_047426184.1:c.1466A>G, XM_047426183.1:c.1301A>G, XM_047426185.1:c.1466A>G, XM_047426187.1:c.1265A>G, XM_047426189.1:c.1301A>G, XM_047426190.1:c.1301A>G, XM_047426191.1:c.1466A>G, XP_011540160.1:p.Lys186Arg, XP_016857388.1:p.Lys489Arg, NP_001351786.1:p.Lys489Arg, NP_001281264.1:p.Lys489Arg, NP_001281265.1:p.Lys489Arg, XP_016857389.1:p.Lys489Arg, XP_024304441.1:p.Lys477Arg, XP_016857390.1:p.Lys489Arg, XP_016857391.1:p.Lys489Arg, XP_016857392.1:p.Lys489Arg, XP_016857394.1:p.Lys489Arg, XP_016857395.1:p.Lys489Arg, XP_016857397.1:p.Lys434Arg, XP_016857398.1:p.Lys434Arg, XP_016857399.1:p.Lys434Arg, XP_016857400.1:p.Lys434Arg, XP_016857401.1:p.Lys379Arg, XP_047282144.1:p.Lys422Arg, XP_047282134.1:p.Lys489Arg, XP_047282129.1:p.Lys489Arg, XP_047282136.1:p.Lys434Arg, XP_047282142.1:p.Lys434Arg, XP_047282137.1:p.Lys434Arg, XP_047282135.1:p.Lys489Arg, XP_047282138.1:p.Lys434Arg, XP_047282140.1:p.Lys489Arg, XP_047282139.1:p.Lys434Arg, XP_047282141.1:p.Lys489Arg, XP_047282143.1:p.Lys422Arg, XP_047282145.1:p.Lys434Arg, XP_047282146.1:p.Lys434Arg, XP_047282147.1:p.Lys489Arg

      3.

      rs1489522110 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:31731017 (GRCh38)
        1:32196618 (GRCh37)
        Canonical SPDI:
        NC_000001.11:31731016:G:A
        Gene:
        ADGRB2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.31731017G>A, NC_000001.10:g.32196618G>A, XM_011541858.3:c.3254C>T, XM_011541858.2:c.3254C>T, XM_011541858.1:c.3254C>T, XM_017001899.2:c.4163C>T, XM_017001899.1:c.4163C>T, NM_001364857.2:c.4163C>T, NM_001364857.1:c.4163C>T, NM_001294335.2:c.4163C>T, NM_001294335.1:c.4163C>T, NM_001294336.2:c.4064C>T, NM_001294336.1:c.4064C>T, XM_017001900.2:c.4163C>T, XM_017001900.1:c.4163C>T, XM_024448673.2:c.4127C>T, XM_024448673.1:c.4127C>T, XM_017001901.2:c.4163C>T, XM_017001901.1:c.4163C>T, XM_017001902.2:c.4163C>T, XM_017001902.1:c.4163C>T, XM_017001903.2:c.4094C>T, XM_017001903.1:c.4094C>T, NM_001703.2:c.4163C>T, XM_017001905.2:c.4064C>T, XM_017001905.1:c.4064C>T, XM_017001906.2:c.4064C>T, XM_017001906.1:c.4064C>T, XM_017001908.2:c.3998C>T, XM_017001908.1:c.3998C>T, XM_017001909.2:c.3998C>T, XM_017001909.1:c.3998C>T, XM_017001910.2:c.3899C>T, XM_017001910.1:c.3899C>T, XM_017001911.2:c.3899C>T, XM_017001911.1:c.3899C>T, XM_017001912.2:c.3833C>T, XM_017001912.1:c.3833C>T, XM_047426188.1:c.3863C>T, XM_047426178.1:c.4064C>T, XM_047426173.1:c.4163C>T, XM_047426180.1:c.3998C>T, XM_047426186.1:c.3899C>T, XM_047426181.1:c.3998C>T, XM_047426179.1:c.4064C>T, XM_047426182.1:c.3998C>T, XM_047426184.1:c.3995C>T, XM_047426183.1:c.3998C>T, XM_047426185.1:c.3995C>T, XM_047426187.1:c.3863C>T, XM_047426189.1:c.3830C>T, XM_047426190.1:c.3830C>T, XP_011540160.1:p.Thr1085Ile, XP_016857388.1:p.Thr1388Ile, NP_001351786.1:p.Thr1388Ile, NP_001281264.1:p.Thr1388Ile, NP_001281265.1:p.Thr1355Ile, XP_016857389.1:p.Thr1388Ile, XP_024304441.1:p.Thr1376Ile, XP_016857390.1:p.Thr1388Ile, XP_016857391.1:p.Thr1388Ile, XP_016857392.1:p.Thr1365Ile, XP_016857394.1:p.Thr1355Ile, XP_016857395.1:p.Thr1355Ile, XP_016857397.1:p.Thr1333Ile, XP_016857398.1:p.Thr1333Ile, XP_016857399.1:p.Thr1300Ile, XP_016857400.1:p.Thr1300Ile, XP_016857401.1:p.Thr1278Ile, XP_047282144.1:p.Thr1288Ile, XP_047282134.1:p.Thr1355Ile, XP_047282129.1:p.Thr1388Ile, XP_047282136.1:p.Thr1333Ile, XP_047282142.1:p.Thr1300Ile, XP_047282137.1:p.Thr1333Ile, XP_047282135.1:p.Thr1355Ile, XP_047282138.1:p.Thr1333Ile, XP_047282140.1:p.Thr1332Ile, XP_047282139.1:p.Thr1333Ile, XP_047282141.1:p.Thr1332Ile, XP_047282143.1:p.Thr1288Ile, XP_047282145.1:p.Thr1277Ile, XP_047282146.1:p.Thr1277Ile

        4.

        rs1489480941 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:31744341 (GRCh38)
          1:32209942 (GRCh37)
          Canonical SPDI:
          NC_000001.11:31744340:C:T
          Gene:
          ADGRB2 (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000006/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.31744341C>T, NC_000001.10:g.32209942C>T, XM_011541858.3:c.30G>A, XM_011541858.2:c.30G>A, XM_011541858.1:c.30G>A, XM_017001899.2:c.939G>A, XM_017001899.1:c.939G>A, NM_001364857.2:c.939G>A, NM_001364857.1:c.939G>A, NM_001294335.2:c.939G>A, NM_001294335.1:c.939G>A, NM_001294336.2:c.939G>A, NM_001294336.1:c.939G>A, XM_017001900.2:c.939G>A, XM_017001900.1:c.939G>A, XM_024448673.2:c.903G>A, XM_024448673.1:c.903G>A, XM_017001901.2:c.939G>A, XM_017001901.1:c.939G>A, XM_017001902.2:c.939G>A, XM_017001902.1:c.939G>A, XM_017001903.2:c.939G>A, XM_017001903.1:c.939G>A, NM_001703.2:c.939G>A, XM_017001905.2:c.939G>A, XM_017001905.1:c.939G>A, XM_017001906.2:c.939G>A, XM_017001906.1:c.939G>A, XM_047426188.1:c.903G>A, XM_047426178.1:c.939G>A, XM_047426173.1:c.939G>A, XM_047426180.1:c.939G>A, XM_047426186.1:c.939G>A, XM_047426181.1:c.939G>A, XM_047426179.1:c.939G>A, XM_047426182.1:c.939G>A, XM_047426184.1:c.939G>A, XM_047426183.1:c.939G>A, XM_047426185.1:c.939G>A, XM_047426187.1:c.903G>A, XM_047426189.1:c.939G>A, XM_047426190.1:c.939G>A, XM_047426191.1:c.939G>A

          5.

          rs1488285678 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:31756236 (GRCh38)
            1:32221837 (GRCh37)
            Canonical SPDI:
            NC_000001.11:31756235:G:A
            Gene:
            ADGRB2 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.31756236G>A, NC_000001.10:g.32221837G>A, XM_017001899.2:c.601C>T, XM_017001899.1:c.601C>T, NM_001364857.2:c.601C>T, NM_001364857.1:c.601C>T, NM_001294335.2:c.601C>T, NM_001294335.1:c.601C>T, NM_001294336.2:c.601C>T, NM_001294336.1:c.601C>T, XM_017001900.2:c.601C>T, XM_017001900.1:c.601C>T, XM_024448673.2:c.565C>T, XM_024448673.1:c.565C>T, XM_017001901.2:c.601C>T, XM_017001901.1:c.601C>T, XM_017001902.2:c.601C>T, XM_017001902.1:c.601C>T, XM_017001903.2:c.601C>T, XM_017001903.1:c.601C>T, NM_001703.2:c.601C>T, XM_017001905.2:c.601C>T, XM_017001905.1:c.601C>T, XM_017001906.2:c.601C>T, XM_017001906.1:c.601C>T, XM_017001908.2:c.601C>T, XM_017001908.1:c.601C>T, XM_017001909.2:c.601C>T, XM_017001909.1:c.601C>T, XM_017001910.2:c.601C>T, XM_017001910.1:c.601C>T, XM_017001911.2:c.601C>T, XM_017001911.1:c.601C>T, XM_017001912.2:c.601C>T, XM_017001912.1:c.601C>T, XM_047426188.1:c.565C>T, XM_047426178.1:c.601C>T, XM_047426173.1:c.601C>T, XM_047426180.1:c.601C>T, XM_047426186.1:c.601C>T, XM_047426181.1:c.601C>T, XM_047426179.1:c.601C>T, XM_047426182.1:c.601C>T, XM_047426184.1:c.601C>T, XM_047426183.1:c.601C>T, XM_047426185.1:c.601C>T, XM_047426187.1:c.565C>T, XM_047426189.1:c.601C>T, XM_047426190.1:c.601C>T, XM_047426191.1:c.601C>T, XP_016857388.1:p.Leu201Phe, NP_001351786.1:p.Leu201Phe, NP_001281264.1:p.Leu201Phe, NP_001281265.1:p.Leu201Phe, XP_016857389.1:p.Leu201Phe, XP_024304441.1:p.Leu189Phe, XP_016857390.1:p.Leu201Phe, XP_016857391.1:p.Leu201Phe, XP_016857392.1:p.Leu201Phe, XP_016857394.1:p.Leu201Phe, XP_016857395.1:p.Leu201Phe, XP_016857397.1:p.Leu201Phe, XP_016857398.1:p.Leu201Phe, XP_016857399.1:p.Leu201Phe, XP_016857400.1:p.Leu201Phe, XP_016857401.1:p.Leu201Phe, XP_047282144.1:p.Leu189Phe, XP_047282134.1:p.Leu201Phe, XP_047282129.1:p.Leu201Phe, XP_047282136.1:p.Leu201Phe, XP_047282142.1:p.Leu201Phe, XP_047282137.1:p.Leu201Phe, XP_047282135.1:p.Leu201Phe, XP_047282138.1:p.Leu201Phe, XP_047282140.1:p.Leu201Phe, XP_047282139.1:p.Leu201Phe, XP_047282141.1:p.Leu201Phe, XP_047282143.1:p.Leu189Phe, XP_047282145.1:p.Leu201Phe, XP_047282146.1:p.Leu201Phe, XP_047282147.1:p.Leu201Phe

            6.

            rs1487678731 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:31733140 (GRCh38)
              1:32198741 (GRCh37)
              Canonical SPDI:
              NC_000001.11:31733139:G:T
              Gene:
              ADGRB2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.31733140G>T, NC_000001.10:g.32198741G>T, XM_011541858.3:c.2547C>A, XM_011541858.2:c.2547C>A, XM_011541858.1:c.2547C>A, XM_017001899.2:c.3456C>A, XM_017001899.1:c.3456C>A, NM_001364857.2:c.3456C>A, NM_001364857.1:c.3456C>A, NM_001294335.2:c.3456C>A, NM_001294335.1:c.3456C>A, NM_001294336.2:c.3357C>A, NM_001294336.1:c.3357C>A, XM_017001900.2:c.3456C>A, XM_017001900.1:c.3456C>A, XM_024448673.2:c.3420C>A, XM_024448673.1:c.3420C>A, XM_017001901.2:c.3456C>A, XM_017001901.1:c.3456C>A, XM_017001902.2:c.3456C>A, XM_017001902.1:c.3456C>A, XM_017001903.2:c.3387C>A, XM_017001903.1:c.3387C>A, NM_001703.2:c.3456C>A, XM_017001905.2:c.3357C>A, XM_017001905.1:c.3357C>A, XM_017001906.2:c.3357C>A, XM_017001906.1:c.3357C>A, XM_017001908.2:c.3291C>A, XM_017001908.1:c.3291C>A, XM_017001909.2:c.3291C>A, XM_017001909.1:c.3291C>A, XM_017001910.2:c.3192C>A, XM_017001910.1:c.3192C>A, XM_017001911.2:c.3192C>A, XM_017001911.1:c.3192C>A, XM_017001912.2:c.3126C>A, XM_017001912.1:c.3126C>A, XM_047426188.1:c.3156C>A, XM_047426178.1:c.3357C>A, XM_047426173.1:c.3456C>A, XM_047426180.1:c.3291C>A, XM_047426186.1:c.3192C>A, XM_047426181.1:c.3291C>A, XM_047426179.1:c.3357C>A, XM_047426182.1:c.3291C>A, XM_047426184.1:c.3288C>A, XM_047426183.1:c.3291C>A, XM_047426185.1:c.3288C>A, XM_047426187.1:c.3156C>A, XM_047426189.1:c.3123C>A, XM_047426190.1:c.3123C>A

              7.

              rs1487499950 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                1:31735659 (GRCh38)
                1:32201260 (GRCh37)
                Canonical SPDI:
                NC_000001.11:31735658:T:A,NC_000001.11:31735658:T:G
                Gene:
                ADGRB2 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.31735659T>A, NC_000001.11:g.31735659T>G, NC_000001.10:g.32201260T>A, NC_000001.10:g.32201260T>G, XM_011541858.3:c.2365A>T, XM_011541858.3:c.2365A>C, XM_011541858.2:c.2365A>T, XM_011541858.2:c.2365A>C, XM_011541858.1:c.2365A>T, XM_011541858.1:c.2365A>C, XM_017001899.2:c.3274A>T, XM_017001899.2:c.3274A>C, XM_017001899.1:c.3274A>T, XM_017001899.1:c.3274A>C, NM_001364857.2:c.3274A>T, NM_001364857.2:c.3274A>C, NM_001364857.1:c.3274A>T, NM_001364857.1:c.3274A>C, NM_001294335.2:c.3274A>T, NM_001294335.2:c.3274A>C, NM_001294335.1:c.3274A>T, NM_001294335.1:c.3274A>C, NM_001294336.2:c.3274A>T, NM_001294336.2:c.3274A>C, NM_001294336.1:c.3274A>T, NM_001294336.1:c.3274A>C, XM_017001900.2:c.3274A>T, XM_017001900.2:c.3274A>C, XM_017001900.1:c.3274A>T, XM_017001900.1:c.3274A>C, XM_024448673.2:c.3238A>T, XM_024448673.2:c.3238A>C, XM_024448673.1:c.3238A>T, XM_024448673.1:c.3238A>C, XM_017001901.2:c.3274A>T, XM_017001901.2:c.3274A>C, XM_017001901.1:c.3274A>T, XM_017001901.1:c.3274A>C, XM_017001902.2:c.3274A>T, XM_017001902.2:c.3274A>C, XM_017001902.1:c.3274A>T, XM_017001902.1:c.3274A>C, XM_017001903.2:c.3205A>T, XM_017001903.2:c.3205A>C, XM_017001903.1:c.3205A>T, XM_017001903.1:c.3205A>C, NM_001703.2:c.3274A>T, NM_001703.2:c.3274A>C, XM_017001905.2:c.3274A>T, XM_017001905.2:c.3274A>C, XM_017001905.1:c.3274A>T, XM_017001905.1:c.3274A>C, XM_017001906.2:c.3274A>T, XM_017001906.2:c.3274A>C, XM_017001906.1:c.3274A>T, XM_017001906.1:c.3274A>C, XM_017001908.2:c.3109A>T, XM_017001908.2:c.3109A>C, XM_017001908.1:c.3109A>T, XM_017001908.1:c.3109A>C, XM_017001909.2:c.3109A>T, XM_017001909.2:c.3109A>C, XM_017001909.1:c.3109A>T, XM_017001909.1:c.3109A>C, XM_017001910.2:c.3109A>T, XM_017001910.2:c.3109A>C, XM_017001910.1:c.3109A>T, XM_017001910.1:c.3109A>C, XM_017001911.2:c.3109A>T, XM_017001911.2:c.3109A>C, XM_017001911.1:c.3109A>T, XM_017001911.1:c.3109A>C, XM_017001912.2:c.2944A>T, XM_017001912.2:c.2944A>C, XM_017001912.1:c.2944A>T, XM_017001912.1:c.2944A>C, XM_047426188.1:c.3073A>T, XM_047426188.1:c.3073A>C, XM_047426178.1:c.3274A>T, XM_047426178.1:c.3274A>C, XM_047426173.1:c.3274A>T, XM_047426173.1:c.3274A>C, XM_047426180.1:c.3109A>T, XM_047426180.1:c.3109A>C, XM_047426186.1:c.3109A>T, XM_047426186.1:c.3109A>C, XM_047426181.1:c.3109A>T, XM_047426181.1:c.3109A>C, XM_047426179.1:c.3274A>T, XM_047426179.1:c.3274A>C, XM_047426182.1:c.3109A>T, XM_047426182.1:c.3109A>C, XM_047426184.1:c.3205A>T, XM_047426184.1:c.3205A>C, XM_047426183.1:c.3109A>T, XM_047426183.1:c.3109A>C, XM_047426185.1:c.3205A>T, XM_047426185.1:c.3205A>C, XM_047426187.1:c.3073A>T, XM_047426187.1:c.3073A>C, XM_047426189.1:c.3040A>T, XM_047426189.1:c.3040A>C, XM_047426190.1:c.3040A>T, XM_047426190.1:c.3040A>C, XM_047426191.1:c.*3A>T, XM_047426191.1:c.*3A>C, XP_011540160.1:p.Met789Leu, XP_011540160.1:p.Met789Leu, XP_016857388.1:p.Met1092Leu, XP_016857388.1:p.Met1092Leu, NP_001351786.1:p.Met1092Leu, NP_001351786.1:p.Met1092Leu, NP_001281264.1:p.Met1092Leu, NP_001281264.1:p.Met1092Leu, NP_001281265.1:p.Met1092Leu, NP_001281265.1:p.Met1092Leu, XP_016857389.1:p.Met1092Leu, XP_016857389.1:p.Met1092Leu, XP_024304441.1:p.Met1080Leu, XP_024304441.1:p.Met1080Leu, XP_016857390.1:p.Met1092Leu, XP_016857390.1:p.Met1092Leu, XP_016857391.1:p.Met1092Leu, XP_016857391.1:p.Met1092Leu, XP_016857392.1:p.Met1069Leu, XP_016857392.1:p.Met1069Leu, XP_016857394.1:p.Met1092Leu, XP_016857394.1:p.Met1092Leu, XP_016857395.1:p.Met1092Leu, XP_016857395.1:p.Met1092Leu, XP_016857397.1:p.Met1037Leu, XP_016857397.1:p.Met1037Leu, XP_016857398.1:p.Met1037Leu, XP_016857398.1:p.Met1037Leu, XP_016857399.1:p.Met1037Leu, XP_016857399.1:p.Met1037Leu, XP_016857400.1:p.Met1037Leu, XP_016857400.1:p.Met1037Leu, XP_016857401.1:p.Met982Leu, XP_016857401.1:p.Met982Leu, XP_047282144.1:p.Met1025Leu, XP_047282144.1:p.Met1025Leu, XP_047282134.1:p.Met1092Leu, XP_047282134.1:p.Met1092Leu, XP_047282129.1:p.Met1092Leu, XP_047282129.1:p.Met1092Leu, XP_047282136.1:p.Met1037Leu, XP_047282136.1:p.Met1037Leu, XP_047282142.1:p.Met1037Leu, XP_047282142.1:p.Met1037Leu, XP_047282137.1:p.Met1037Leu, XP_047282137.1:p.Met1037Leu, XP_047282135.1:p.Met1092Leu, XP_047282135.1:p.Met1092Leu, XP_047282138.1:p.Met1037Leu, XP_047282138.1:p.Met1037Leu, XP_047282140.1:p.Met1069Leu, XP_047282140.1:p.Met1069Leu, XP_047282139.1:p.Met1037Leu, XP_047282139.1:p.Met1037Leu, XP_047282141.1:p.Met1069Leu, XP_047282141.1:p.Met1069Leu, XP_047282143.1:p.Met1025Leu, XP_047282143.1:p.Met1025Leu, XP_047282145.1:p.Met1014Leu, XP_047282145.1:p.Met1014Leu, XP_047282146.1:p.Met1014Leu, XP_047282146.1:p.Met1014Leu

                8.

                rs1486561454 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:31739530 (GRCh38)
                  1:32205131 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:31739529:C:T
                  Gene:
                  ADGRB2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.001342/6 (ALFA)
                  T=0.000036/5 (GnomAD)
                  T=0.001339/6 (Estonian)
                  HGVS:
                  NC_000001.11:g.31739530C>T, NC_000001.10:g.32205131C>T, XM_011541858.3:c.1364G>A, XM_011541858.2:c.1364G>A, XM_011541858.1:c.1364G>A, XM_017001899.2:c.2273G>A, XM_017001899.1:c.2273G>A, NM_001364857.2:c.2273G>A, NM_001364857.1:c.2273G>A, NM_001294335.2:c.2273G>A, NM_001294335.1:c.2273G>A, NM_001294336.2:c.2273G>A, NM_001294336.1:c.2273G>A, XM_017001900.2:c.2273G>A, XM_017001900.1:c.2273G>A, XM_024448673.2:c.2237G>A, XM_024448673.1:c.2237G>A, XM_017001901.2:c.2273G>A, XM_017001901.1:c.2273G>A, XM_017001902.2:c.2273G>A, XM_017001902.1:c.2273G>A, XM_017001903.2:c.2204G>A, XM_017001903.1:c.2204G>A, NM_001703.2:c.2273G>A, XM_017001905.2:c.2273G>A, XM_017001905.1:c.2273G>A, XM_017001906.2:c.2273G>A, XM_017001906.1:c.2273G>A, XM_017001908.2:c.2108G>A, XM_017001908.1:c.2108G>A, XM_017001909.2:c.2108G>A, XM_017001909.1:c.2108G>A, XM_017001910.2:c.2108G>A, XM_017001910.1:c.2108G>A, XM_017001911.2:c.2108G>A, XM_017001911.1:c.2108G>A, XM_017001912.2:c.1943G>A, XM_017001912.1:c.1943G>A, XM_047426188.1:c.2072G>A, XM_047426178.1:c.2273G>A, XM_047426173.1:c.2273G>A, XM_047426180.1:c.2108G>A, XM_047426186.1:c.2108G>A, XM_047426181.1:c.2108G>A, XM_047426179.1:c.2273G>A, XM_047426182.1:c.2108G>A, XM_047426184.1:c.2204G>A, XM_047426183.1:c.2108G>A, XM_047426185.1:c.2204G>A, XM_047426187.1:c.2072G>A, XM_047426189.1:c.2039G>A, XM_047426190.1:c.2039G>A, XM_047426191.1:c.2273G>A, XP_011540160.1:p.Arg455His, XP_016857388.1:p.Arg758His, NP_001351786.1:p.Arg758His, NP_001281264.1:p.Arg758His, NP_001281265.1:p.Arg758His, XP_016857389.1:p.Arg758His, XP_024304441.1:p.Arg746His, XP_016857390.1:p.Arg758His, XP_016857391.1:p.Arg758His, XP_016857392.1:p.Arg735His, XP_016857394.1:p.Arg758His, XP_016857395.1:p.Arg758His, XP_016857397.1:p.Arg703His, XP_016857398.1:p.Arg703His, XP_016857399.1:p.Arg703His, XP_016857400.1:p.Arg703His, XP_016857401.1:p.Arg648His, XP_047282144.1:p.Arg691His, XP_047282134.1:p.Arg758His, XP_047282129.1:p.Arg758His, XP_047282136.1:p.Arg703His, XP_047282142.1:p.Arg703His, XP_047282137.1:p.Arg703His, XP_047282135.1:p.Arg758His, XP_047282138.1:p.Arg703His, XP_047282140.1:p.Arg735His, XP_047282139.1:p.Arg703His, XP_047282141.1:p.Arg735His, XP_047282143.1:p.Arg691His, XP_047282145.1:p.Arg680His, XP_047282146.1:p.Arg680His, XP_047282147.1:p.Arg758His

                  9.

                  rs1486515675 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:31736365 (GRCh38)
                    1:32201966 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:31736364:C:T
                    Gene:
                    ADGRB2 (Varview)
                    Functional Consequence:
                    synonymous_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.31736365C>T, NC_000001.10:g.32201966C>T, XM_011541858.3:c.2247G>A, XM_011541858.2:c.2247G>A, XM_011541858.1:c.2247G>A, XM_017001899.2:c.3156G>A, XM_017001899.1:c.3156G>A, NM_001364857.2:c.3156G>A, NM_001364857.1:c.3156G>A, NM_001294335.2:c.3156G>A, NM_001294335.1:c.3156G>A, NM_001294336.2:c.3156G>A, NM_001294336.1:c.3156G>A, XM_017001900.2:c.3156G>A, XM_017001900.1:c.3156G>A, XM_024448673.2:c.3120G>A, XM_024448673.1:c.3120G>A, XM_017001901.2:c.3156G>A, XM_017001901.1:c.3156G>A, XM_017001902.2:c.3156G>A, XM_017001902.1:c.3156G>A, XM_017001903.2:c.3087G>A, XM_017001903.1:c.3087G>A, NM_001703.2:c.3156G>A, XM_017001905.2:c.3156G>A, XM_017001905.1:c.3156G>A, XM_017001906.2:c.3156G>A, XM_017001906.1:c.3156G>A, XM_017001908.2:c.2991G>A, XM_017001908.1:c.2991G>A, XM_017001909.2:c.2991G>A, XM_017001909.1:c.2991G>A, XM_017001910.2:c.2991G>A, XM_017001910.1:c.2991G>A, XM_017001911.2:c.2991G>A, XM_017001911.1:c.2991G>A, XM_017001912.2:c.2826G>A, XM_017001912.1:c.2826G>A, XM_047426188.1:c.2955G>A, XM_047426178.1:c.3156G>A, XM_047426173.1:c.3156G>A, XM_047426180.1:c.2991G>A, XM_047426186.1:c.2991G>A, XM_047426181.1:c.2991G>A, XM_047426179.1:c.3156G>A, XM_047426182.1:c.2991G>A, XM_047426184.1:c.3087G>A, XM_047426183.1:c.2991G>A, XM_047426185.1:c.3087G>A, XM_047426187.1:c.2955G>A, XM_047426189.1:c.2922G>A, XM_047426190.1:c.2922G>A, XM_047426191.1:c.3005G>A, XP_047282147.1:p.Cys1002Tyr

                    10.

                    rs1486225106 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:31730965 (GRCh38)
                      1:32196566 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:31730964:G:A
                      Gene:
                      ADGRB2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000001.11:g.31730965G>A, NC_000001.10:g.32196566G>A, XM_011541858.3:c.3306C>T, XM_011541858.2:c.3306C>T, XM_011541858.1:c.3306C>T, XM_017001899.2:c.4215C>T, XM_017001899.1:c.4215C>T, NM_001364857.2:c.4215C>T, NM_001364857.1:c.4215C>T, NM_001294335.2:c.4215C>T, NM_001294335.1:c.4215C>T, NM_001294336.2:c.4116C>T, NM_001294336.1:c.4116C>T, XM_017001900.2:c.4215C>T, XM_017001900.1:c.4215C>T, XM_024448673.2:c.4179C>T, XM_024448673.1:c.4179C>T, XM_017001901.2:c.4215C>T, XM_017001901.1:c.4215C>T, XM_017001902.2:c.4215C>T, XM_017001902.1:c.4215C>T, XM_017001903.2:c.4146C>T, XM_017001903.1:c.4146C>T, NM_001703.2:c.4215C>T, XM_017001905.2:c.4116C>T, XM_017001905.1:c.4116C>T, XM_017001906.2:c.4116C>T, XM_017001906.1:c.4116C>T, XM_017001908.2:c.4050C>T, XM_017001908.1:c.4050C>T, XM_017001909.2:c.4050C>T, XM_017001909.1:c.4050C>T, XM_017001910.2:c.3951C>T, XM_017001910.1:c.3951C>T, XM_017001911.2:c.3951C>T, XM_017001911.1:c.3951C>T, XM_017001912.2:c.3885C>T, XM_017001912.1:c.3885C>T, XM_047426188.1:c.3915C>T, XM_047426178.1:c.4116C>T, XM_047426173.1:c.4215C>T, XM_047426180.1:c.4050C>T, XM_047426186.1:c.3951C>T, XM_047426181.1:c.4050C>T, XM_047426179.1:c.4116C>T, XM_047426182.1:c.4050C>T, XM_047426184.1:c.4047C>T, XM_047426183.1:c.4050C>T, XM_047426185.1:c.4047C>T, XM_047426187.1:c.3915C>T, XM_047426189.1:c.3882C>T, XM_047426190.1:c.3882C>T

                      11.

                      rs1486122733 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:31738257 (GRCh38)
                        1:32203858 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:31738256:G:A
                        Gene:
                        ADGRB2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000001.11:g.31738257G>A, NC_000001.10:g.32203858G>A, XM_011541858.3:c.1806C>T, XM_011541858.2:c.1806C>T, XM_011541858.1:c.1806C>T, XM_017001899.2:c.2715C>T, XM_017001899.1:c.2715C>T, NM_001364857.2:c.2715C>T, NM_001364857.1:c.2715C>T, NM_001294335.2:c.2715C>T, NM_001294335.1:c.2715C>T, NM_001294336.2:c.2715C>T, NM_001294336.1:c.2715C>T, XM_017001900.2:c.2715C>T, XM_017001900.1:c.2715C>T, XM_024448673.2:c.2679C>T, XM_024448673.1:c.2679C>T, XM_017001901.2:c.2715C>T, XM_017001901.1:c.2715C>T, XM_017001902.2:c.2715C>T, XM_017001902.1:c.2715C>T, XM_017001903.2:c.2646C>T, XM_017001903.1:c.2646C>T, NM_001703.2:c.2715C>T, XM_017001905.2:c.2715C>T, XM_017001905.1:c.2715C>T, XM_017001906.2:c.2715C>T, XM_017001906.1:c.2715C>T, XM_017001908.2:c.2550C>T, XM_017001908.1:c.2550C>T, XM_017001909.2:c.2550C>T, XM_017001909.1:c.2550C>T, XM_017001910.2:c.2550C>T, XM_017001910.1:c.2550C>T, XM_017001911.2:c.2550C>T, XM_017001911.1:c.2550C>T, XM_017001912.2:c.2385C>T, XM_017001912.1:c.2385C>T, XM_047426188.1:c.2514C>T, XM_047426178.1:c.2715C>T, XM_047426173.1:c.2715C>T, XM_047426180.1:c.2550C>T, XM_047426186.1:c.2550C>T, XM_047426181.1:c.2550C>T, XM_047426179.1:c.2715C>T, XM_047426182.1:c.2550C>T, XM_047426184.1:c.2646C>T, XM_047426183.1:c.2550C>T, XM_047426185.1:c.2646C>T, XM_047426187.1:c.2514C>T, XM_047426189.1:c.2481C>T, XM_047426190.1:c.2481C>T, XM_047426191.1:c.2715C>T

                        12.

                        rs1485994247 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:31741907 (GRCh38)
                          1:32207508 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:31741906:G:A
                          Gene:
                          ADGRB2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.31741907G>A, NC_000001.10:g.32207508G>A, XM_011541858.3:c.569C>T, XM_011541858.2:c.569C>T, XM_011541858.1:c.569C>T, XM_017001899.2:c.1478C>T, XM_017001899.1:c.1478C>T, NM_001364857.2:c.1478C>T, NM_001364857.1:c.1478C>T, NM_001294335.2:c.1478C>T, NM_001294335.1:c.1478C>T, NM_001294336.2:c.1478C>T, NM_001294336.1:c.1478C>T, XM_017001900.2:c.1478C>T, XM_017001900.1:c.1478C>T, XM_024448673.2:c.1442C>T, XM_024448673.1:c.1442C>T, XM_017001901.2:c.1478C>T, XM_017001901.1:c.1478C>T, XM_017001902.2:c.1478C>T, XM_017001902.1:c.1478C>T, XM_017001903.2:c.1478C>T, XM_017001903.1:c.1478C>T, NM_001703.2:c.1478C>T, XM_017001905.2:c.1478C>T, XM_017001905.1:c.1478C>T, XM_017001906.2:c.1478C>T, XM_017001906.1:c.1478C>T, XM_017001908.2:c.1313C>T, XM_017001908.1:c.1313C>T, XM_017001909.2:c.1313C>T, XM_017001909.1:c.1313C>T, XM_017001910.2:c.1313C>T, XM_017001910.1:c.1313C>T, XM_017001911.2:c.1313C>T, XM_017001911.1:c.1313C>T, XM_017001912.2:c.1148C>T, XM_017001912.1:c.1148C>T, XM_047426188.1:c.1277C>T, XM_047426178.1:c.1478C>T, XM_047426173.1:c.1478C>T, XM_047426180.1:c.1313C>T, XM_047426186.1:c.1313C>T, XM_047426181.1:c.1313C>T, XM_047426179.1:c.1478C>T, XM_047426182.1:c.1313C>T, XM_047426184.1:c.1478C>T, XM_047426183.1:c.1313C>T, XM_047426185.1:c.1478C>T, XM_047426187.1:c.1277C>T, XM_047426189.1:c.1313C>T, XM_047426190.1:c.1313C>T, XM_047426191.1:c.1478C>T, XP_011540160.1:p.Thr190Ile, XP_016857388.1:p.Thr493Ile, NP_001351786.1:p.Thr493Ile, NP_001281264.1:p.Thr493Ile, NP_001281265.1:p.Thr493Ile, XP_016857389.1:p.Thr493Ile, XP_024304441.1:p.Thr481Ile, XP_016857390.1:p.Thr493Ile, XP_016857391.1:p.Thr493Ile, XP_016857392.1:p.Thr493Ile, XP_016857394.1:p.Thr493Ile, XP_016857395.1:p.Thr493Ile, XP_016857397.1:p.Thr438Ile, XP_016857398.1:p.Thr438Ile, XP_016857399.1:p.Thr438Ile, XP_016857400.1:p.Thr438Ile, XP_016857401.1:p.Thr383Ile, XP_047282144.1:p.Thr426Ile, XP_047282134.1:p.Thr493Ile, XP_047282129.1:p.Thr493Ile, XP_047282136.1:p.Thr438Ile, XP_047282142.1:p.Thr438Ile, XP_047282137.1:p.Thr438Ile, XP_047282135.1:p.Thr493Ile, XP_047282138.1:p.Thr438Ile, XP_047282140.1:p.Thr493Ile, XP_047282139.1:p.Thr438Ile, XP_047282141.1:p.Thr493Ile, XP_047282143.1:p.Thr426Ile, XP_047282145.1:p.Thr438Ile, XP_047282146.1:p.Thr438Ile, XP_047282147.1:p.Thr493Ile

                          13.

                          rs1485585220 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:31741842 (GRCh38)
                            1:32207443 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:31741841:T:C
                            Gene:
                            ADGRB2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.31741842T>C, NC_000001.10:g.32207443T>C, XM_011541858.3:c.634A>G, XM_011541858.2:c.634A>G, XM_011541858.1:c.634A>G, XM_017001899.2:c.1543A>G, XM_017001899.1:c.1543A>G, NM_001364857.2:c.1543A>G, NM_001364857.1:c.1543A>G, NM_001294335.2:c.1543A>G, NM_001294335.1:c.1543A>G, NM_001294336.2:c.1543A>G, NM_001294336.1:c.1543A>G, XM_017001900.2:c.1543A>G, XM_017001900.1:c.1543A>G, XM_024448673.2:c.1507A>G, XM_024448673.1:c.1507A>G, XM_017001901.2:c.1543A>G, XM_017001901.1:c.1543A>G, XM_017001902.2:c.1543A>G, XM_017001902.1:c.1543A>G, XM_017001903.2:c.1543A>G, XM_017001903.1:c.1543A>G, NM_001703.2:c.1543A>G, XM_017001905.2:c.1543A>G, XM_017001905.1:c.1543A>G, XM_017001906.2:c.1543A>G, XM_017001906.1:c.1543A>G, XM_017001908.2:c.1378A>G, XM_017001908.1:c.1378A>G, XM_017001909.2:c.1378A>G, XM_017001909.1:c.1378A>G, XM_017001910.2:c.1378A>G, XM_017001910.1:c.1378A>G, XM_017001911.2:c.1378A>G, XM_017001911.1:c.1378A>G, XM_017001912.2:c.1213A>G, XM_017001912.1:c.1213A>G, XM_047426188.1:c.1342A>G, XM_047426178.1:c.1543A>G, XM_047426173.1:c.1543A>G, XM_047426180.1:c.1378A>G, XM_047426186.1:c.1378A>G, XM_047426181.1:c.1378A>G, XM_047426179.1:c.1543A>G, XM_047426182.1:c.1378A>G, XM_047426184.1:c.1543A>G, XM_047426183.1:c.1378A>G, XM_047426185.1:c.1543A>G, XM_047426187.1:c.1342A>G, XM_047426189.1:c.1378A>G, XM_047426190.1:c.1378A>G, XM_047426191.1:c.1543A>G, XP_011540160.1:p.Thr212Ala, XP_016857388.1:p.Thr515Ala, NP_001351786.1:p.Thr515Ala, NP_001281264.1:p.Thr515Ala, NP_001281265.1:p.Thr515Ala, XP_016857389.1:p.Thr515Ala, XP_024304441.1:p.Thr503Ala, XP_016857390.1:p.Thr515Ala, XP_016857391.1:p.Thr515Ala, XP_016857392.1:p.Thr515Ala, XP_016857394.1:p.Thr515Ala, XP_016857395.1:p.Thr515Ala, XP_016857397.1:p.Thr460Ala, XP_016857398.1:p.Thr460Ala, XP_016857399.1:p.Thr460Ala, XP_016857400.1:p.Thr460Ala, XP_016857401.1:p.Thr405Ala, XP_047282144.1:p.Thr448Ala, XP_047282134.1:p.Thr515Ala, XP_047282129.1:p.Thr515Ala, XP_047282136.1:p.Thr460Ala, XP_047282142.1:p.Thr460Ala, XP_047282137.1:p.Thr460Ala, XP_047282135.1:p.Thr515Ala, XP_047282138.1:p.Thr460Ala, XP_047282140.1:p.Thr515Ala, XP_047282139.1:p.Thr460Ala, XP_047282141.1:p.Thr515Ala, XP_047282143.1:p.Thr448Ala, XP_047282145.1:p.Thr460Ala, XP_047282146.1:p.Thr460Ala, XP_047282147.1:p.Thr515Ala

                            14.

                            rs1484825539 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:31737744 (GRCh38)
                              1:32203345 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:31737743:C:T
                              Gene:
                              ADGRB2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.31737744C>T, NC_000001.10:g.32203345C>T, XM_011541858.3:c.1875G>A, XM_011541858.2:c.1875G>A, XM_011541858.1:c.1875G>A, XM_017001899.2:c.2784G>A, XM_017001899.1:c.2784G>A, NM_001364857.2:c.2784G>A, NM_001364857.1:c.2784G>A, NM_001294335.2:c.2784G>A, NM_001294335.1:c.2784G>A, NM_001294336.2:c.2784G>A, NM_001294336.1:c.2784G>A, XM_017001900.2:c.2784G>A, XM_017001900.1:c.2784G>A, XM_024448673.2:c.2748G>A, XM_024448673.1:c.2748G>A, XM_017001901.2:c.2784G>A, XM_017001901.1:c.2784G>A, XM_017001902.2:c.2784G>A, XM_017001902.1:c.2784G>A, XM_017001903.2:c.2715G>A, XM_017001903.1:c.2715G>A, NM_001703.2:c.2784G>A, XM_017001905.2:c.2784G>A, XM_017001905.1:c.2784G>A, XM_017001906.2:c.2784G>A, XM_017001906.1:c.2784G>A, XM_017001908.2:c.2619G>A, XM_017001908.1:c.2619G>A, XM_017001909.2:c.2619G>A, XM_017001909.1:c.2619G>A, XM_017001910.2:c.2619G>A, XM_017001910.1:c.2619G>A, XM_017001911.2:c.2619G>A, XM_017001911.1:c.2619G>A, XM_017001912.2:c.2454G>A, XM_017001912.1:c.2454G>A, XM_047426188.1:c.2583G>A, XM_047426178.1:c.2784G>A, XM_047426173.1:c.2784G>A, XM_047426180.1:c.2619G>A, XM_047426186.1:c.2619G>A, XM_047426181.1:c.2619G>A, XM_047426179.1:c.2784G>A, XM_047426182.1:c.2619G>A, XM_047426184.1:c.2715G>A, XM_047426183.1:c.2619G>A, XM_047426185.1:c.2715G>A, XM_047426187.1:c.2583G>A, XM_047426189.1:c.2550G>A, XM_047426190.1:c.2550G>A, XM_047426191.1:c.2784G>A

                              15.

                              rs1484161253 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:31739396 (GRCh38)
                                1:32204997 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:31739395:G:A
                                Gene:
                                ADGRB2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000001.11:g.31739396G>A, NC_000001.10:g.32204997G>A, XM_011541858.3:c.1498C>T, XM_011541858.2:c.1498C>T, XM_011541858.1:c.1498C>T, XM_017001899.2:c.2407C>T, XM_017001899.1:c.2407C>T, NM_001364857.2:c.2407C>T, NM_001364857.1:c.2407C>T, NM_001294335.2:c.2407C>T, NM_001294335.1:c.2407C>T, NM_001294336.2:c.2407C>T, NM_001294336.1:c.2407C>T, XM_017001900.2:c.2407C>T, XM_017001900.1:c.2407C>T, XM_024448673.2:c.2371C>T, XM_024448673.1:c.2371C>T, XM_017001901.2:c.2407C>T, XM_017001901.1:c.2407C>T, XM_017001902.2:c.2407C>T, XM_017001902.1:c.2407C>T, XM_017001903.2:c.2338C>T, XM_017001903.1:c.2338C>T, NM_001703.2:c.2407C>T, XM_017001905.2:c.2407C>T, XM_017001905.1:c.2407C>T, XM_017001906.2:c.2407C>T, XM_017001906.1:c.2407C>T, XM_017001908.2:c.2242C>T, XM_017001908.1:c.2242C>T, XM_017001909.2:c.2242C>T, XM_017001909.1:c.2242C>T, XM_017001910.2:c.2242C>T, XM_017001910.1:c.2242C>T, XM_017001911.2:c.2242C>T, XM_017001911.1:c.2242C>T, XM_017001912.2:c.2077C>T, XM_017001912.1:c.2077C>T, XM_047426188.1:c.2206C>T, XM_047426178.1:c.2407C>T, XM_047426173.1:c.2407C>T, XM_047426180.1:c.2242C>T, XM_047426186.1:c.2242C>T, XM_047426181.1:c.2242C>T, XM_047426179.1:c.2407C>T, XM_047426182.1:c.2242C>T, XM_047426184.1:c.2338C>T, XM_047426183.1:c.2242C>T, XM_047426185.1:c.2338C>T, XM_047426187.1:c.2206C>T, XM_047426189.1:c.2173C>T, XM_047426190.1:c.2173C>T, XM_047426191.1:c.2407C>T, XP_011540160.1:p.Leu500Phe, XP_016857388.1:p.Leu803Phe, NP_001351786.1:p.Leu803Phe, NP_001281264.1:p.Leu803Phe, NP_001281265.1:p.Leu803Phe, XP_016857389.1:p.Leu803Phe, XP_024304441.1:p.Leu791Phe, XP_016857390.1:p.Leu803Phe, XP_016857391.1:p.Leu803Phe, XP_016857392.1:p.Leu780Phe, XP_016857394.1:p.Leu803Phe, XP_016857395.1:p.Leu803Phe, XP_016857397.1:p.Leu748Phe, XP_016857398.1:p.Leu748Phe, XP_016857399.1:p.Leu748Phe, XP_016857400.1:p.Leu748Phe, XP_016857401.1:p.Leu693Phe, XP_047282144.1:p.Leu736Phe, XP_047282134.1:p.Leu803Phe, XP_047282129.1:p.Leu803Phe, XP_047282136.1:p.Leu748Phe, XP_047282142.1:p.Leu748Phe, XP_047282137.1:p.Leu748Phe, XP_047282135.1:p.Leu803Phe, XP_047282138.1:p.Leu748Phe, XP_047282140.1:p.Leu780Phe, XP_047282139.1:p.Leu748Phe, XP_047282141.1:p.Leu780Phe, XP_047282143.1:p.Leu736Phe, XP_047282145.1:p.Leu725Phe, XP_047282146.1:p.Leu725Phe, XP_047282147.1:p.Leu803Phe

                                16.

                                rs1484039343 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:31744195 (GRCh38)
                                  1:32209796 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:31744194:G:T
                                  Gene:
                                  ADGRB2 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000001.11:g.31744195G>T, NC_000001.10:g.32209796G>T, XM_011541858.3:c.176C>A, XM_011541858.2:c.176C>A, XM_011541858.1:c.176C>A, XM_017001899.2:c.1085C>A, XM_017001899.1:c.1085C>A, NM_001364857.2:c.1085C>A, NM_001364857.1:c.1085C>A, NM_001294335.2:c.1085C>A, NM_001294335.1:c.1085C>A, NM_001294336.2:c.1085C>A, NM_001294336.1:c.1085C>A, XM_017001900.2:c.1085C>A, XM_017001900.1:c.1085C>A, XM_024448673.2:c.1049C>A, XM_024448673.1:c.1049C>A, XM_017001901.2:c.1085C>A, XM_017001901.1:c.1085C>A, XM_017001902.2:c.1085C>A, XM_017001902.1:c.1085C>A, XM_017001903.2:c.1085C>A, XM_017001903.1:c.1085C>A, NM_001703.2:c.1085C>A, XM_017001905.2:c.1085C>A, XM_017001905.1:c.1085C>A, XM_017001906.2:c.1085C>A, XM_017001906.1:c.1085C>A, XM_047426188.1:c.1049C>A, XM_047426178.1:c.1085C>A, XM_047426173.1:c.1085C>A, XM_047426180.1:c.1085C>A, XM_047426186.1:c.1085C>A, XM_047426181.1:c.1085C>A, XM_047426179.1:c.1085C>A, XM_047426182.1:c.1085C>A, XM_047426184.1:c.1085C>A, XM_047426183.1:c.1085C>A, XM_047426185.1:c.1085C>A, XM_047426187.1:c.1049C>A, XM_047426189.1:c.1085C>A, XM_047426190.1:c.1085C>A, XM_047426191.1:c.1085C>A, XP_011540160.1:p.Pro59Gln, XP_016857388.1:p.Pro362Gln, NP_001351786.1:p.Pro362Gln, NP_001281264.1:p.Pro362Gln, NP_001281265.1:p.Pro362Gln, XP_016857389.1:p.Pro362Gln, XP_024304441.1:p.Pro350Gln, XP_016857390.1:p.Pro362Gln, XP_016857391.1:p.Pro362Gln, XP_016857392.1:p.Pro362Gln, XP_016857394.1:p.Pro362Gln, XP_016857395.1:p.Pro362Gln, XP_047282144.1:p.Pro350Gln, XP_047282134.1:p.Pro362Gln, XP_047282129.1:p.Pro362Gln, XP_047282136.1:p.Pro362Gln, XP_047282142.1:p.Pro362Gln, XP_047282137.1:p.Pro362Gln, XP_047282135.1:p.Pro362Gln, XP_047282138.1:p.Pro362Gln, XP_047282140.1:p.Pro362Gln, XP_047282139.1:p.Pro362Gln, XP_047282141.1:p.Pro362Gln, XP_047282143.1:p.Pro350Gln, XP_047282145.1:p.Pro362Gln, XP_047282146.1:p.Pro362Gln, XP_047282147.1:p.Pro362Gln

                                  17.

                                  rs1484038148 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:31742937 (GRCh38)
                                    1:32208538 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:31742936:G:A
                                    Gene:
                                    ADGRB2 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.31742937G>A, NC_000001.10:g.32208538G>A, XM_011541858.3:c.244C>T, XM_011541858.2:c.244C>T, XM_011541858.1:c.244C>T, XM_017001899.2:c.1153C>T, XM_017001899.1:c.1153C>T, NM_001364857.2:c.1153C>T, NM_001364857.1:c.1153C>T, NM_001294335.2:c.1153C>T, NM_001294335.1:c.1153C>T, NM_001294336.2:c.1153C>T, NM_001294336.1:c.1153C>T, XM_017001900.2:c.1153C>T, XM_017001900.1:c.1153C>T, XM_024448673.2:c.1117C>T, XM_024448673.1:c.1117C>T, XM_017001901.2:c.1153C>T, XM_017001901.1:c.1153C>T, XM_017001902.2:c.1153C>T, XM_017001902.1:c.1153C>T, XM_017001903.2:c.1153C>T, XM_017001903.1:c.1153C>T, NM_001703.2:c.1153C>T, XM_017001905.2:c.1153C>T, XM_017001905.1:c.1153C>T, XM_017001906.2:c.1153C>T, XM_017001906.1:c.1153C>T, XM_017001908.2:c.988C>T, XM_017001908.1:c.988C>T, XM_017001909.2:c.988C>T, XM_017001909.1:c.988C>T, XM_017001910.2:c.988C>T, XM_017001910.1:c.988C>T, XM_017001911.2:c.988C>T, XM_017001911.1:c.988C>T, XM_047426178.1:c.1153C>T, XM_047426173.1:c.1153C>T, XM_047426179.1:c.1153C>T, XM_047426184.1:c.1153C>T, XM_047426185.1:c.1153C>T, XM_047426191.1:c.1153C>T, XP_011540160.1:p.Arg82Trp, XP_016857388.1:p.Arg385Trp, NP_001351786.1:p.Arg385Trp, NP_001281264.1:p.Arg385Trp, NP_001281265.1:p.Arg385Trp, XP_016857389.1:p.Arg385Trp, XP_024304441.1:p.Arg373Trp, XP_016857390.1:p.Arg385Trp, XP_016857391.1:p.Arg385Trp, XP_016857392.1:p.Arg385Trp, XP_016857394.1:p.Arg385Trp, XP_016857395.1:p.Arg385Trp, XP_016857397.1:p.Arg330Trp, XP_016857398.1:p.Arg330Trp, XP_016857399.1:p.Arg330Trp, XP_016857400.1:p.Arg330Trp, XP_047282134.1:p.Arg385Trp, XP_047282129.1:p.Arg385Trp, XP_047282135.1:p.Arg385Trp, XP_047282140.1:p.Arg385Trp, XP_047282141.1:p.Arg385Trp, XP_047282147.1:p.Arg385Trp

                                    18.

                                    rs1483190095 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GCCTCCTCC [Show Flanks]
                                      Chromosome:
                                      1:31756438 (GRCh38)
                                      1:32222040 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:31756438:GCCTCCTCC:GCCTCCTCCGCCTCCTCC
                                      Gene:
                                      ADGRB2 (Varview)
                                      Functional Consequence:
                                      inframe_insertion,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GCCTCCTCCGCCTCCTCC=0./0 (ALFA)
                                      GCCTCCTCC=0.000004/1 (TOPMED)
                                      GCCTCCTCC=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.31756439_31756447dup, NC_000001.10:g.32222040_32222048dup, XM_017001899.2:c.390_398dup, XM_017001899.1:c.390_398dup, NM_001364857.2:c.390_398dup, NM_001364857.1:c.390_398dup, NM_001294335.2:c.390_398dup, NM_001294335.1:c.390_398dup, NM_001294336.2:c.390_398dup, NM_001294336.1:c.390_398dup, XM_017001900.2:c.390_398dup, XM_017001900.1:c.390_398dup, XM_024448673.2:c.354_362dup, XM_024448673.1:c.354_362dup, XM_017001901.2:c.390_398dup, XM_017001901.1:c.390_398dup, XM_017001902.2:c.390_398dup, XM_017001902.1:c.390_398dup, XM_017001903.2:c.390_398dup, XM_017001903.1:c.390_398dup, NM_001703.2:c.390_398dup, XM_017001905.2:c.390_398dup, XM_017001905.1:c.390_398dup, XM_017001906.2:c.390_398dup, XM_017001906.1:c.390_398dup, XM_017001908.2:c.390_398dup, XM_017001908.1:c.390_398dup, XM_017001909.2:c.390_398dup, XM_017001909.1:c.390_398dup, XM_017001910.2:c.390_398dup, XM_017001910.1:c.390_398dup, XM_017001911.2:c.390_398dup, XM_017001911.1:c.390_398dup, XM_017001912.2:c.390_398dup, XM_017001912.1:c.390_398dup, XM_047426188.1:c.354_362dup, XM_047426178.1:c.390_398dup, XM_047426173.1:c.390_398dup, XM_047426180.1:c.390_398dup, XM_047426186.1:c.390_398dup, XM_047426181.1:c.390_398dup, XM_047426179.1:c.390_398dup, XM_047426182.1:c.390_398dup, XM_047426184.1:c.390_398dup, XM_047426183.1:c.390_398dup, XM_047426185.1:c.390_398dup, XM_047426187.1:c.354_362dup, XM_047426189.1:c.390_398dup, XM_047426190.1:c.390_398dup, XM_047426191.1:c.390_398dup, XP_016857388.1:p.Glu132_Glu134dup, NP_001351786.1:p.Glu132_Glu134dup, NP_001281264.1:p.Glu132_Glu134dup, NP_001281265.1:p.Glu132_Glu134dup, XP_016857389.1:p.Glu132_Glu134dup, XP_024304441.1:p.Glu120_Glu122dup, XP_016857390.1:p.Glu132_Glu134dup, XP_016857391.1:p.Glu132_Glu134dup, XP_016857392.1:p.Glu132_Glu134dup, XP_016857394.1:p.Glu132_Glu134dup, XP_016857395.1:p.Glu132_Glu134dup, XP_016857397.1:p.Glu132_Glu134dup, XP_016857398.1:p.Glu132_Glu134dup, XP_016857399.1:p.Glu132_Glu134dup, XP_016857400.1:p.Glu132_Glu134dup, XP_016857401.1:p.Glu132_Glu134dup, XP_047282144.1:p.Glu120_Glu122dup, XP_047282134.1:p.Glu132_Glu134dup, XP_047282129.1:p.Glu132_Glu134dup, XP_047282136.1:p.Glu132_Glu134dup, XP_047282142.1:p.Glu132_Glu134dup, XP_047282137.1:p.Glu132_Glu134dup, XP_047282135.1:p.Glu132_Glu134dup, XP_047282138.1:p.Glu132_Glu134dup, XP_047282140.1:p.Glu132_Glu134dup, XP_047282139.1:p.Glu132_Glu134dup, XP_047282141.1:p.Glu132_Glu134dup, XP_047282143.1:p.Glu120_Glu122dup, XP_047282145.1:p.Glu132_Glu134dup, XP_047282146.1:p.Glu132_Glu134dup, XP_047282147.1:p.Glu132_Glu134dup

                                      19.

                                      rs1483027506 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:31744306 (GRCh38)
                                        1:32209907 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:31744305:C:T
                                        Gene:
                                        ADGRB2 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.31744306C>T, NC_000001.10:g.32209907C>T, XM_011541858.3:c.65G>A, XM_011541858.2:c.65G>A, XM_011541858.1:c.65G>A, XM_017001899.2:c.974G>A, XM_017001899.1:c.974G>A, NM_001364857.2:c.974G>A, NM_001364857.1:c.974G>A, NM_001294335.2:c.974G>A, NM_001294335.1:c.974G>A, NM_001294336.2:c.974G>A, NM_001294336.1:c.974G>A, XM_017001900.2:c.974G>A, XM_017001900.1:c.974G>A, XM_024448673.2:c.938G>A, XM_024448673.1:c.938G>A, XM_017001901.2:c.974G>A, XM_017001901.1:c.974G>A, XM_017001902.2:c.974G>A, XM_017001902.1:c.974G>A, XM_017001903.2:c.974G>A, XM_017001903.1:c.974G>A, NM_001703.2:c.974G>A, XM_017001905.2:c.974G>A, XM_017001905.1:c.974G>A, XM_017001906.2:c.974G>A, XM_017001906.1:c.974G>A, XM_047426188.1:c.938G>A, XM_047426178.1:c.974G>A, XM_047426173.1:c.974G>A, XM_047426180.1:c.974G>A, XM_047426186.1:c.974G>A, XM_047426181.1:c.974G>A, XM_047426179.1:c.974G>A, XM_047426182.1:c.974G>A, XM_047426184.1:c.974G>A, XM_047426183.1:c.974G>A, XM_047426185.1:c.974G>A, XM_047426187.1:c.938G>A, XM_047426189.1:c.974G>A, XM_047426190.1:c.974G>A, XM_047426191.1:c.974G>A, XP_011540160.1:p.Cys22Tyr, XP_016857388.1:p.Cys325Tyr, NP_001351786.1:p.Cys325Tyr, NP_001281264.1:p.Cys325Tyr, NP_001281265.1:p.Cys325Tyr, XP_016857389.1:p.Cys325Tyr, XP_024304441.1:p.Cys313Tyr, XP_016857390.1:p.Cys325Tyr, XP_016857391.1:p.Cys325Tyr, XP_016857392.1:p.Cys325Tyr, XP_016857394.1:p.Cys325Tyr, XP_016857395.1:p.Cys325Tyr, XP_047282144.1:p.Cys313Tyr, XP_047282134.1:p.Cys325Tyr, XP_047282129.1:p.Cys325Tyr, XP_047282136.1:p.Cys325Tyr, XP_047282142.1:p.Cys325Tyr, XP_047282137.1:p.Cys325Tyr, XP_047282135.1:p.Cys325Tyr, XP_047282138.1:p.Cys325Tyr, XP_047282140.1:p.Cys325Tyr, XP_047282139.1:p.Cys325Tyr, XP_047282141.1:p.Cys325Tyr, XP_047282143.1:p.Cys313Tyr, XP_047282145.1:p.Cys325Tyr, XP_047282146.1:p.Cys325Tyr, XP_047282147.1:p.Cys325Tyr

                                        20.

                                        rs1482938987 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:31741376 (GRCh38)
                                          1:32206977 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:31741375:C:T
                                          Gene:
                                          ADGRB2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          HGVS:
                                          NC_000001.11:g.31741376C>T, NC_000001.10:g.32206977C>T, XM_011541858.3:c.882G>A, XM_011541858.2:c.882G>A, XM_011541858.1:c.882G>A, XM_017001899.2:c.1791G>A, XM_017001899.1:c.1791G>A, NM_001364857.2:c.1791G>A, NM_001364857.1:c.1791G>A, NM_001294335.2:c.1791G>A, NM_001294335.1:c.1791G>A, NM_001294336.2:c.1791G>A, NM_001294336.1:c.1791G>A, XM_017001900.2:c.1791G>A, XM_017001900.1:c.1791G>A, XM_024448673.2:c.1755G>A, XM_024448673.1:c.1755G>A, XM_017001901.2:c.1791G>A, XM_017001901.1:c.1791G>A, XM_017001902.2:c.1791G>A, XM_017001902.1:c.1791G>A, XM_017001903.2:c.1791G>A, XM_017001903.1:c.1791G>A, NM_001703.2:c.1791G>A, XM_017001905.2:c.1791G>A, XM_017001905.1:c.1791G>A, XM_017001906.2:c.1791G>A, XM_017001906.1:c.1791G>A, XM_017001908.2:c.1626G>A, XM_017001908.1:c.1626G>A, XM_017001909.2:c.1626G>A, XM_017001909.1:c.1626G>A, XM_017001910.2:c.1626G>A, XM_017001910.1:c.1626G>A, XM_017001911.2:c.1626G>A, XM_017001911.1:c.1626G>A, XM_017001912.2:c.1461G>A, XM_017001912.1:c.1461G>A, XM_047426188.1:c.1590G>A, XM_047426178.1:c.1791G>A, XM_047426173.1:c.1791G>A, XM_047426180.1:c.1626G>A, XM_047426186.1:c.1626G>A, XM_047426181.1:c.1626G>A, XM_047426179.1:c.1791G>A, XM_047426182.1:c.1626G>A, XM_047426184.1:c.1791G>A, XM_047426183.1:c.1626G>A, XM_047426185.1:c.1791G>A, XM_047426187.1:c.1590G>A, XM_047426189.1:c.1626G>A, XM_047426190.1:c.1626G>A, XM_047426191.1:c.1791G>A

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