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1.

rs1490663976 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    7:44220665 (GRCh38)
    7:44260264 (GRCh37)
    Canonical SPDI:
    NC_000007.14:44220664:C:G,NC_000007.14:44220664:C:T
    Gene:
    CAMK2B (Varview)
    Functional Consequence:
    downstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000007.14:g.44220665C>G, NC_000007.14:g.44220665C>T, NC_000007.13:g.44260264C>G, NC_000007.13:g.44260264C>T, NG_029407.1:g.109967G>C, NG_029407.1:g.109967G>A, NM_001220.5:c.1719G>C, NM_001220.5:c.1719G>A, NM_001220.4:c.1719G>C, NM_001220.4:c.1719G>A, NM_172078.3:c.1347G>C, NM_172078.3:c.1347G>A, NM_172078.2:c.1347G>C, NM_172078.2:c.1347G>A, NM_172079.3:c.1275G>C, NM_172079.3:c.1275G>A, NM_172079.2:c.1275G>C, NM_172079.2:c.1275G>A, NM_172080.3:c.1272G>C, NM_172080.3:c.1272G>A, NM_172080.2:c.1272G>C, NM_172080.2:c.1272G>A, NM_172081.3:c.1230G>C, NM_172081.3:c.1230G>A, NM_172081.2:c.1230G>C, NM_172081.2:c.1230G>A, NM_172083.3:c.1158G>C, NM_172083.3:c.1158G>A, NM_172083.2:c.1158G>C, NM_172083.2:c.1158G>A, NM_172084.3:c.1068G>C, NM_172084.3:c.1068G>A, NM_172084.2:c.1068G>C, NM_172084.2:c.1068G>A, NM_001293170.2:c.1347G>C, NM_001293170.2:c.1347G>A, NM_001293170.1:c.1347G>C, NM_001293170.1:c.1347G>A, XM_005249862.4:c.1302G>C, XM_005249862.4:c.1302G>A, XM_005249862.3:c.1302G>C, XM_005249862.3:c.1302G>A, XM_005249862.2:c.1302G>C, XM_005249862.2:c.1302G>A, XM_005249862.1:c.1302G>C, XM_005249862.1:c.1302G>A, XM_005249864.4:c.1203G>C, XM_005249864.4:c.1203G>A, XM_005249864.3:c.1203G>C, XM_005249864.3:c.1203G>A, XM_005249864.2:c.1203G>C, XM_005249864.2:c.1203G>A, XM_005249864.1:c.1203G>C, XM_005249864.1:c.1203G>A, XM_011515559.3:c.1461G>C, XM_011515559.3:c.1461G>A, XM_011515559.2:c.1461G>C, XM_011515559.2:c.1461G>A, XM_011515559.1:c.1461G>C, XM_011515559.1:c.1461G>A, XM_006715781.3:c.1599G>C, XM_006715781.3:c.1599G>A, XM_006715781.2:c.1599G>C, XM_006715781.2:c.1599G>A, XM_006715781.1:c.1599G>C, XM_006715781.1:c.1599G>A, XM_006715784.3:c.1275G>C, XM_006715784.3:c.1275G>A, XM_006715784.2:c.1275G>C, XM_006715784.2:c.1275G>A, XM_006715784.1:c.1275G>C, XM_006715784.1:c.1275G>A, XM_011515547.2:c.1848G>C, XM_011515547.2:c.1848G>A, XM_011515547.1:c.1848G>C, XM_011515547.1:c.1848G>A, XM_011515549.2:c.1803G>C, XM_011515549.2:c.1803G>A, XM_011515549.1:c.1803G>C, XM_011515549.1:c.1803G>A, XM_011515551.2:c.1776G>C, XM_011515551.2:c.1776G>A, XM_011515551.1:c.1776G>C, XM_011515551.1:c.1776G>A, XM_011515550.2:c.1776G>C, XM_011515550.2:c.1776G>A, XM_011515550.1:c.1776G>C, XM_011515550.1:c.1776G>A, XM_011515552.2:c.1773G>C, XM_011515552.2:c.1773G>A, XM_011515552.1:c.1773G>C, XM_011515552.1:c.1773G>A, XM_011515553.2:c.1734G>C, XM_011515553.2:c.1734G>A, XM_011515553.1:c.1734G>C, XM_011515553.1:c.1734G>A, XM_017012660.2:c.1731G>C, XM_017012660.2:c.1731G>A, XM_017012660.1:c.1731G>C, XM_017012660.1:c.1731G>A, XM_011515554.2:c.1728G>C, XM_011515554.2:c.1728G>A, XM_011515554.1:c.1728G>C, XM_011515554.1:c.1728G>A, XM_011515555.2:c.1719G>C, XM_011515555.2:c.1719G>A, XM_011515555.1:c.1719G>C, XM_011515555.1:c.1719G>A, XM_011515556.2:c.1704G>C, XM_011515556.2:c.1704G>A, XM_011515556.1:c.1704G>C, XM_011515556.1:c.1704G>A, XM_011515557.2:c.1701G>C, XM_011515557.2:c.1701G>A, XM_011515557.1:c.1701G>C, XM_011515557.1:c.1701G>A, XM_017012661.2:c.1689G>C, XM_017012661.2:c.1689G>A, XM_017012661.1:c.1689G>C, XM_017012661.1:c.1689G>A, XM_024446945.2:c.1605G>C, XM_024446945.2:c.1605G>A, XM_024446945.1:c.1605G>C, XM_024446945.1:c.1605G>A, XM_017012662.2:c.1530G>C, XM_017012662.2:c.1530G>A, XM_017012662.1:c.1530G>C, XM_017012662.1:c.1530G>A, XM_017012664.2:c.1227G>C, XM_017012664.2:c.1227G>A, XM_017012664.1:c.1227G>C, XM_017012664.1:c.1227G>A, XM_017012665.2:c.1200G>C, XM_017012665.2:c.1200G>A, XM_017012665.1:c.1200G>C, XM_017012665.1:c.1200G>A, XM_047420880.1:c.1647G>C, XM_047420880.1:c.1647G>A, XM_047420881.1:c.1602G>C, XM_047420881.1:c.1602G>A, XM_047420882.1:c.1488G>C, XM_047420882.1:c.1488G>A

    2.

    rs1489828341 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:44258892 (GRCh38)
      7:44298491 (GRCh37)
      Canonical SPDI:
      NC_000007.14:44258891:G:A
      Gene:
      CAMK2B (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.44258892G>A, NC_000007.13:g.44298491G>A, NG_029407.1:g.71740C>T, NM_001220.5:c.255C>T, NM_001220.4:c.255C>T, NM_172078.3:c.255C>T, NM_172078.2:c.255C>T, NM_172079.3:c.255C>T, NM_172079.2:c.255C>T, NM_172080.3:c.255C>T, NM_172080.2:c.255C>T, NM_172081.3:c.255C>T, NM_172081.2:c.255C>T, NM_172082.3:c.255C>T, NM_172082.2:c.255C>T, NM_172083.3:c.255C>T, NM_172083.2:c.255C>T, NM_172084.3:c.255C>T, NM_172084.2:c.255C>T, NM_001293170.2:c.255C>T, NM_001293170.1:c.255C>T, XM_005249862.4:c.255C>T, XM_005249862.3:c.255C>T, XM_005249862.2:c.255C>T, XM_005249862.1:c.255C>T, XM_005249864.4:c.255C>T, XM_005249864.3:c.255C>T, XM_005249864.2:c.255C>T, XM_005249864.1:c.255C>T, XM_011515559.3:c.-133C>T, XM_011515559.2:c.-133C>T, XM_011515559.1:c.-133C>T, XM_006715781.3:c.255C>T, XM_006715781.2:c.255C>T, XM_006715781.1:c.255C>T, XM_006715784.3:c.255C>T, XM_006715784.2:c.255C>T, XM_006715784.1:c.255C>T, XM_011515558.3:c.255C>T, XM_011515558.2:c.255C>T, XM_011515558.1:c.255C>T, XM_011515547.2:c.255C>T, XM_011515547.1:c.255C>T, XM_011515549.2:c.255C>T, XM_011515549.1:c.255C>T, XM_011515551.2:c.255C>T, XM_011515551.1:c.255C>T, XM_011515550.2:c.255C>T, XM_011515550.1:c.255C>T, XM_011515552.2:c.255C>T, XM_011515552.1:c.255C>T, XM_011515553.2:c.255C>T, XM_011515553.1:c.255C>T, XM_017012660.2:c.255C>T, XM_017012660.1:c.255C>T, XM_011515554.2:c.255C>T, XM_011515554.1:c.255C>T, XM_011515555.2:c.255C>T, XM_011515555.1:c.255C>T, XM_011515556.2:c.255C>T, XM_011515556.1:c.255C>T, XM_011515557.2:c.255C>T, XM_011515557.1:c.255C>T, XM_017012661.2:c.255C>T, XM_017012661.1:c.255C>T, XM_024446945.2:c.255C>T, XM_024446945.1:c.255C>T, XM_017012662.2:c.255C>T, XM_017012662.1:c.255C>T, XM_017012664.2:c.255C>T, XM_017012664.1:c.255C>T, XM_017012665.2:c.255C>T, XM_017012665.1:c.255C>T, XM_047420880.1:c.255C>T, XM_047420881.1:c.255C>T, XM_047420882.1:c.255C>T, XM_047420883.1:c.255C>T

      3.

      rs1489151076 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:44220124 (GRCh38)
        7:44259723 (GRCh37)
        Canonical SPDI:
        NC_000007.14:44220123:C:T
        Gene:
        CAMK2B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000023/6 (TOPMED)
        T=0.000029/4 (GnomAD)
        T=0.000343/1 (KOREAN)
        HGVS:
        NC_000007.14:g.44220124C>T, NC_000007.13:g.44259723C>T, NG_029407.1:g.110508G>A, NM_001220.5:c.1939G>A, NM_001220.4:c.1939G>A, NM_172078.3:c.1567G>A, NM_172078.2:c.1567G>A, NM_172079.3:c.1495G>A, NM_172079.2:c.1495G>A, NM_172080.3:c.1492G>A, NM_172080.2:c.1492G>A, NM_172081.3:c.1450G>A, NM_172081.2:c.1450G>A, NM_172082.3:c.1417G>A, NM_172082.2:c.1417G>A, NM_172083.3:c.1378G>A, NM_172083.2:c.1378G>A, NM_172084.3:c.1288G>A, NM_172084.2:c.1288G>A, NM_001293170.2:c.1567G>A, NM_001293170.1:c.1567G>A, XM_005249862.4:c.1522G>A, XM_005249862.3:c.1522G>A, XM_005249862.2:c.1522G>A, XM_005249862.1:c.1522G>A, XM_005249864.4:c.1423G>A, XM_005249864.3:c.1423G>A, XM_005249864.2:c.1423G>A, XM_005249864.1:c.1423G>A, XM_011515559.3:c.1681G>A, XM_011515559.2:c.1681G>A, XM_011515559.1:c.1681G>A, XM_006715781.3:c.1819G>A, XM_006715781.2:c.1819G>A, XM_006715781.1:c.1819G>A, XM_006715784.3:c.1495G>A, XM_006715784.2:c.1495G>A, XM_006715784.1:c.1495G>A, XM_011515547.2:c.2068G>A, XM_011515547.1:c.2068G>A, XM_011515549.2:c.2023G>A, XM_011515549.1:c.2023G>A, XM_011515551.2:c.1996G>A, XM_011515551.1:c.1996G>A, XM_011515550.2:c.1996G>A, XM_011515550.1:c.1996G>A, XM_011515552.2:c.1993G>A, XM_011515552.1:c.1993G>A, XM_011515553.2:c.1954G>A, XM_011515553.1:c.1954G>A, XM_017012660.2:c.1951G>A, XM_017012660.1:c.1951G>A, XM_011515554.2:c.1948G>A, XM_011515554.1:c.1948G>A, XM_011515555.2:c.1939G>A, XM_011515555.1:c.1939G>A, XM_011515556.2:c.1924G>A, XM_011515556.1:c.1924G>A, XM_011515557.2:c.1921G>A, XM_011515557.1:c.1921G>A, XM_017012661.2:c.1909G>A, XM_017012661.1:c.1909G>A, XM_024446945.2:c.1825G>A, XM_024446945.1:c.1825G>A, XM_017012662.2:c.1750G>A, XM_017012662.1:c.1750G>A, XM_017012664.2:c.1447G>A, XM_017012664.1:c.1447G>A, XM_017012665.2:c.1420G>A, XM_017012665.1:c.1420G>A, XM_047420880.1:c.1867G>A, XM_047420881.1:c.1822G>A, XM_047420882.1:c.1708G>A, NP_001211.3:p.Asp647Asn, NP_742075.1:p.Asp523Asn, NP_742076.1:p.Asp499Asn, NP_742077.1:p.Asp498Asn, NP_742078.1:p.Asp484Asn, NP_742079.1:p.Asp473Asn, NP_742080.1:p.Asp460Asn, NP_742081.1:p.Asp430Asn, NP_001280099.1:p.Asp523Asn, XP_005249919.1:p.Asp508Asn, XP_005249921.1:p.Asp475Asn, XP_011513861.1:p.Asp561Asn, XP_006715844.1:p.Asp607Asn, XP_006715847.1:p.Asp499Asn, XP_011513849.1:p.Asp690Asn, XP_011513851.1:p.Asp675Asn, XP_011513853.1:p.Asp666Asn, XP_011513852.1:p.Asp666Asn, XP_011513854.1:p.Asp665Asn, XP_011513855.1:p.Asp652Asn, XP_016868149.1:p.Asp651Asn, XP_011513856.1:p.Asp650Asn, XP_011513857.1:p.Asp647Asn, XP_011513858.1:p.Asp642Asn, XP_011513859.1:p.Asp641Asn, XP_016868150.1:p.Asp637Asn, XP_024302713.1:p.Asp609Asn, XP_016868151.1:p.Asp584Asn, XP_016868153.1:p.Asp483Asn, XP_016868154.1:p.Asp474Asn, XP_047276836.1:p.Asp623Asn, XP_047276837.1:p.Asp608Asn, XP_047276838.1:p.Asp570Asn

        4.

        rs1488399289 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          7:44325418 (GRCh38)
          7:44365017 (GRCh37)
          Canonical SPDI:
          NC_000007.14:44325417:C:A
          Gene:
          CAMK2B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_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_000007.14:g.44325418C>A, NC_000007.13:g.44365017C>A, NG_029407.1:g.5214G>T, NM_001220.5:c.4G>T, NM_001220.4:c.4G>T, NM_172078.3:c.4G>T, NM_172078.2:c.4G>T, NM_172079.3:c.4G>T, NM_172079.2:c.4G>T, NM_172080.3:c.4G>T, NM_172080.2:c.4G>T, NM_172081.3:c.4G>T, NM_172081.2:c.4G>T, NM_172082.3:c.4G>T, NM_172082.2:c.4G>T, NM_172083.3:c.4G>T, NM_172083.2:c.4G>T, NM_172084.3:c.4G>T, NM_172084.2:c.4G>T, NM_001293170.2:c.4G>T, NM_001293170.1:c.4G>T, XM_005249862.4:c.4G>T, XM_005249862.3:c.4G>T, XM_005249862.2:c.4G>T, XM_005249862.1:c.4G>T, XM_005249864.4:c.4G>T, XM_005249864.3:c.4G>T, XM_005249864.2:c.4G>T, XM_005249864.1:c.4G>T, XM_006715781.3:c.4G>T, XM_006715781.2:c.4G>T, XM_006715781.1:c.4G>T, XM_006715784.3:c.4G>T, XM_006715784.2:c.4G>T, XM_006715784.1:c.4G>T, XM_011515558.3:c.4G>T, XM_011515558.2:c.4G>T, XM_011515558.1:c.4G>T, XM_011515547.2:c.4G>T, XM_011515547.1:c.4G>T, XM_011515549.2:c.4G>T, XM_011515549.1:c.4G>T, XM_011515551.2:c.4G>T, XM_011515551.1:c.4G>T, XM_011515550.2:c.4G>T, XM_011515550.1:c.4G>T, XM_011515552.2:c.4G>T, XM_011515552.1:c.4G>T, XM_011515553.2:c.4G>T, XM_011515553.1:c.4G>T, XM_017012660.2:c.4G>T, XM_017012660.1:c.4G>T, XM_011515554.2:c.4G>T, XM_011515554.1:c.4G>T, XM_011515555.2:c.4G>T, XM_011515555.1:c.4G>T, XM_011515556.2:c.4G>T, XM_011515556.1:c.4G>T, XM_011515557.2:c.4G>T, XM_011515557.1:c.4G>T, XM_017012661.2:c.4G>T, XM_017012661.1:c.4G>T, XM_024446945.2:c.4G>T, XM_024446945.1:c.4G>T, XM_017012662.2:c.4G>T, XM_017012662.1:c.4G>T, XM_017012664.2:c.4G>T, XM_017012664.1:c.4G>T, XM_017012665.2:c.4G>T, XM_017012665.1:c.4G>T, XM_047420880.1:c.4G>T, XM_047420881.1:c.4G>T, XM_047420882.1:c.4G>T, XM_047420883.1:c.4G>T, NP_001211.3:p.Ala2Ser, NP_742075.1:p.Ala2Ser, NP_742076.1:p.Ala2Ser, NP_742077.1:p.Ala2Ser, NP_742078.1:p.Ala2Ser, NP_742079.1:p.Ala2Ser, NP_742080.1:p.Ala2Ser, NP_742081.1:p.Ala2Ser, NP_001280099.1:p.Ala2Ser, XP_005249919.1:p.Ala2Ser, XP_005249921.1:p.Ala2Ser, XP_006715844.1:p.Ala2Ser, XP_006715847.1:p.Ala2Ser, XP_011513860.1:p.Ala2Ser, XP_011513849.1:p.Ala2Ser, XP_011513851.1:p.Ala2Ser, XP_011513853.1:p.Ala2Ser, XP_011513852.1:p.Ala2Ser, XP_011513854.1:p.Ala2Ser, XP_011513855.1:p.Ala2Ser, XP_016868149.1:p.Ala2Ser, XP_011513856.1:p.Ala2Ser, XP_011513857.1:p.Ala2Ser, XP_011513858.1:p.Ala2Ser, XP_011513859.1:p.Ala2Ser, XP_016868150.1:p.Ala2Ser, XP_024302713.1:p.Ala2Ser, XP_016868151.1:p.Ala2Ser, XP_016868153.1:p.Ala2Ser, XP_016868154.1:p.Ala2Ser, XP_047276836.1:p.Ala2Ser, XP_047276837.1:p.Ala2Ser, XP_047276838.1:p.Ala2Ser, XP_047276839.1:p.Ala2Ser

          5.

          rs1487965817 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:44241780 (GRCh38)
            7:44281379 (GRCh37)
            Canonical SPDI:
            NC_000007.14:44241779:G:A
            Gene:
            CAMK2B (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000035/1 (TOMMO)
            HGVS:
            NC_000007.14:g.44241780G>A, NC_000007.13:g.44281379G>A, NG_029407.1:g.88852C>T, NM_001220.5:c.823C>T, NM_001220.4:c.823C>T, NM_172078.3:c.823C>T, NM_172078.2:c.823C>T, NM_172079.3:c.823C>T, NM_172079.2:c.823C>T, NM_172080.3:c.823C>T, NM_172080.2:c.823C>T, NM_172081.3:c.823C>T, NM_172081.2:c.823C>T, NM_172082.3:c.823C>T, NM_172082.2:c.823C>T, NM_172083.3:c.823C>T, NM_172083.2:c.823C>T, NM_172084.3:c.823C>T, NM_172084.2:c.823C>T, NM_001293170.2:c.823C>T, NM_001293170.1:c.823C>T, XM_005249862.4:c.823C>T, XM_005249862.3:c.823C>T, XM_005249862.2:c.823C>T, XM_005249862.1:c.823C>T, XM_005249864.4:c.823C>T, XM_005249864.3:c.823C>T, XM_005249864.2:c.823C>T, XM_005249864.1:c.823C>T, XM_011515559.3:c.436C>T, XM_011515559.2:c.436C>T, XM_011515559.1:c.436C>T, XM_006715781.3:c.823C>T, XM_006715781.2:c.823C>T, XM_006715781.1:c.823C>T, XM_006715784.3:c.823C>T, XM_006715784.2:c.823C>T, XM_006715784.1:c.823C>T, XM_011515558.3:c.823C>T, XM_011515558.2:c.823C>T, XM_011515558.1:c.823C>T, XM_011515547.2:c.823C>T, XM_011515547.1:c.823C>T, XM_011515549.2:c.823C>T, XM_011515549.1:c.823C>T, XM_011515551.2:c.823C>T, XM_011515551.1:c.823C>T, XM_011515550.2:c.823C>T, XM_011515550.1:c.823C>T, XM_011515552.2:c.823C>T, XM_011515552.1:c.823C>T, XM_011515553.2:c.823C>T, XM_011515553.1:c.823C>T, XM_017012660.2:c.823C>T, XM_017012660.1:c.823C>T, XM_011515554.2:c.823C>T, XM_011515554.1:c.823C>T, XM_011515555.2:c.823C>T, XM_011515555.1:c.823C>T, XM_011515556.2:c.823C>T, XM_011515556.1:c.823C>T, XM_011515557.2:c.823C>T, XM_011515557.1:c.823C>T, XM_017012661.2:c.823C>T, XM_017012661.1:c.823C>T, XM_024446945.2:c.823C>T, XM_024446945.1:c.823C>T, XM_017012662.2:c.823C>T, XM_017012662.1:c.823C>T, XM_017012664.2:c.823C>T, XM_017012664.1:c.823C>T, XM_017012665.2:c.823C>T, XM_017012665.1:c.823C>T, XM_047420880.1:c.823C>T, XM_047420881.1:c.823C>T, XM_047420882.1:c.823C>T, XM_047420883.1:c.823C>T, NP_001211.3:p.Arg275Cys, NP_742075.1:p.Arg275Cys, NP_742076.1:p.Arg275Cys, NP_742077.1:p.Arg275Cys, NP_742078.1:p.Arg275Cys, NP_742079.1:p.Arg275Cys, NP_742080.1:p.Arg275Cys, NP_742081.1:p.Arg275Cys, NP_001280099.1:p.Arg275Cys, XP_005249919.1:p.Arg275Cys, XP_005249921.1:p.Arg275Cys, XP_011513861.1:p.Arg146Cys, XP_006715844.1:p.Arg275Cys, XP_006715847.1:p.Arg275Cys, XP_011513860.1:p.Arg275Cys, XP_011513849.1:p.Arg275Cys, XP_011513851.1:p.Arg275Cys, XP_011513853.1:p.Arg275Cys, XP_011513852.1:p.Arg275Cys, XP_011513854.1:p.Arg275Cys, XP_011513855.1:p.Arg275Cys, XP_016868149.1:p.Arg275Cys, XP_011513856.1:p.Arg275Cys, XP_011513857.1:p.Arg275Cys, XP_011513858.1:p.Arg275Cys, XP_011513859.1:p.Arg275Cys, XP_016868150.1:p.Arg275Cys, XP_024302713.1:p.Arg275Cys, XP_016868151.1:p.Arg275Cys, XP_016868153.1:p.Arg275Cys, XP_016868154.1:p.Arg275Cys, XP_047276836.1:p.Arg275Cys, XP_047276837.1:p.Arg275Cys, XP_047276838.1:p.Arg275Cys, XP_047276839.1:p.Arg275Cys

            6.

            rs1486618086 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              7:44220158 (GRCh38)
              7:44259757 (GRCh37)
              Canonical SPDI:
              NC_000007.14:44220157:G:A
              Gene:
              CAMK2B (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000007.14:g.44220158G>A, NC_000007.13:g.44259757G>A, NG_029407.1:g.110474C>T, NM_001220.5:c.1905C>T, NM_001220.4:c.1905C>T, NM_172078.3:c.1533C>T, NM_172078.2:c.1533C>T, NM_172079.3:c.1461C>T, NM_172079.2:c.1461C>T, NM_172080.3:c.1458C>T, NM_172080.2:c.1458C>T, NM_172081.3:c.1416C>T, NM_172081.2:c.1416C>T, NM_172082.3:c.1383C>T, NM_172082.2:c.1383C>T, NM_172083.3:c.1344C>T, NM_172083.2:c.1344C>T, NM_172084.3:c.1254C>T, NM_172084.2:c.1254C>T, NM_001293170.2:c.1533C>T, NM_001293170.1:c.1533C>T, XM_005249862.4:c.1488C>T, XM_005249862.3:c.1488C>T, XM_005249862.2:c.1488C>T, XM_005249862.1:c.1488C>T, XM_005249864.4:c.1389C>T, XM_005249864.3:c.1389C>T, XM_005249864.2:c.1389C>T, XM_005249864.1:c.1389C>T, XM_011515559.3:c.1647C>T, XM_011515559.2:c.1647C>T, XM_011515559.1:c.1647C>T, XM_006715781.3:c.1785C>T, XM_006715781.2:c.1785C>T, XM_006715781.1:c.1785C>T, XM_006715784.3:c.1461C>T, XM_006715784.2:c.1461C>T, XM_006715784.1:c.1461C>T, XM_011515547.2:c.2034C>T, XM_011515547.1:c.2034C>T, XM_011515549.2:c.1989C>T, XM_011515549.1:c.1989C>T, XM_011515551.2:c.1962C>T, XM_011515551.1:c.1962C>T, XM_011515550.2:c.1962C>T, XM_011515550.1:c.1962C>T, XM_011515552.2:c.1959C>T, XM_011515552.1:c.1959C>T, XM_011515553.2:c.1920C>T, XM_011515553.1:c.1920C>T, XM_017012660.2:c.1917C>T, XM_017012660.1:c.1917C>T, XM_011515554.2:c.1914C>T, XM_011515554.1:c.1914C>T, XM_011515555.2:c.1905C>T, XM_011515555.1:c.1905C>T, XM_011515556.2:c.1890C>T, XM_011515556.1:c.1890C>T, XM_011515557.2:c.1887C>T, XM_011515557.1:c.1887C>T, XM_017012661.2:c.1875C>T, XM_017012661.1:c.1875C>T, XM_024446945.2:c.1791C>T, XM_024446945.1:c.1791C>T, XM_017012662.2:c.1716C>T, XM_017012662.1:c.1716C>T, XM_017012664.2:c.1413C>T, XM_017012664.1:c.1413C>T, XM_017012665.2:c.1386C>T, XM_017012665.1:c.1386C>T, XM_047420880.1:c.1833C>T, XM_047420881.1:c.1788C>T, XM_047420882.1:c.1674C>T

              7.

              rs1486576292 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                7:44242638 (GRCh38)
                7:44282237 (GRCh37)
                Canonical SPDI:
                NC_000007.14:44242637:G:T
                Gene:
                CAMK2B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000007.14:g.44242638G>T, NC_000007.13:g.44282237G>T, NG_029407.1:g.87994C>A, NM_001220.5:c.618C>A, NM_001220.4:c.618C>A, NM_172078.3:c.618C>A, NM_172078.2:c.618C>A, NM_172079.3:c.618C>A, NM_172079.2:c.618C>A, NM_172080.3:c.618C>A, NM_172080.2:c.618C>A, NM_172081.3:c.618C>A, NM_172081.2:c.618C>A, NM_172082.3:c.618C>A, NM_172082.2:c.618C>A, NM_172083.3:c.618C>A, NM_172083.2:c.618C>A, NM_172084.3:c.618C>A, NM_172084.2:c.618C>A, NM_001293170.2:c.618C>A, NM_001293170.1:c.618C>A, XM_005249862.4:c.618C>A, XM_005249862.3:c.618C>A, XM_005249862.2:c.618C>A, XM_005249862.1:c.618C>A, XM_005249864.4:c.618C>A, XM_005249864.3:c.618C>A, XM_005249864.2:c.618C>A, XM_005249864.1:c.618C>A, XM_011515559.3:c.231C>A, XM_011515559.2:c.231C>A, XM_011515559.1:c.231C>A, XM_006715781.3:c.618C>A, XM_006715781.2:c.618C>A, XM_006715781.1:c.618C>A, XM_006715784.3:c.618C>A, XM_006715784.2:c.618C>A, XM_006715784.1:c.618C>A, XM_011515558.3:c.618C>A, XM_011515558.2:c.618C>A, XM_011515558.1:c.618C>A, XM_011515547.2:c.618C>A, XM_011515547.1:c.618C>A, XM_011515549.2:c.618C>A, XM_011515549.1:c.618C>A, XM_011515551.2:c.618C>A, XM_011515551.1:c.618C>A, XM_011515550.2:c.618C>A, XM_011515550.1:c.618C>A, XM_011515552.2:c.618C>A, XM_011515552.1:c.618C>A, XM_011515553.2:c.618C>A, XM_011515553.1:c.618C>A, XM_017012660.2:c.618C>A, XM_017012660.1:c.618C>A, XM_011515554.2:c.618C>A, XM_011515554.1:c.618C>A, XM_011515555.2:c.618C>A, XM_011515555.1:c.618C>A, XM_011515556.2:c.618C>A, XM_011515556.1:c.618C>A, XM_011515557.2:c.618C>A, XM_011515557.1:c.618C>A, XM_017012661.2:c.618C>A, XM_017012661.1:c.618C>A, XM_024446945.2:c.618C>A, XM_024446945.1:c.618C>A, XM_017012662.2:c.618C>A, XM_017012662.1:c.618C>A, XM_017012664.2:c.618C>A, XM_017012664.1:c.618C>A, XM_017012665.2:c.618C>A, XM_017012665.1:c.618C>A, XM_047420880.1:c.618C>A, XM_047420881.1:c.618C>A, XM_047420882.1:c.618C>A, XM_047420883.1:c.618C>A

                8.

                rs1483027166 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:44325409 (GRCh38)
                  7:44365008 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:44325408:C:T
                  Gene:
                  CAMK2B (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000007.14:g.44325409C>T, NC_000007.13:g.44365008C>T, NG_029407.1:g.5223G>A, NM_001220.5:c.13G>A, NM_001220.4:c.13G>A, NM_172078.3:c.13G>A, NM_172078.2:c.13G>A, NM_172079.3:c.13G>A, NM_172079.2:c.13G>A, NM_172080.3:c.13G>A, NM_172080.2:c.13G>A, NM_172081.3:c.13G>A, NM_172081.2:c.13G>A, NM_172082.3:c.13G>A, NM_172082.2:c.13G>A, NM_172083.3:c.13G>A, NM_172083.2:c.13G>A, NM_172084.3:c.13G>A, NM_172084.2:c.13G>A, NM_001293170.2:c.13G>A, NM_001293170.1:c.13G>A, XM_005249862.4:c.13G>A, XM_005249862.3:c.13G>A, XM_005249862.2:c.13G>A, XM_005249862.1:c.13G>A, XM_005249864.4:c.13G>A, XM_005249864.3:c.13G>A, XM_005249864.2:c.13G>A, XM_005249864.1:c.13G>A, XM_006715781.3:c.13G>A, XM_006715781.2:c.13G>A, XM_006715781.1:c.13G>A, XM_006715784.3:c.13G>A, XM_006715784.2:c.13G>A, XM_006715784.1:c.13G>A, XM_011515558.3:c.13G>A, XM_011515558.2:c.13G>A, XM_011515558.1:c.13G>A, XM_011515547.2:c.13G>A, XM_011515547.1:c.13G>A, XM_011515549.2:c.13G>A, XM_011515549.1:c.13G>A, XM_011515551.2:c.13G>A, XM_011515551.1:c.13G>A, XM_011515550.2:c.13G>A, XM_011515550.1:c.13G>A, XM_011515552.2:c.13G>A, XM_011515552.1:c.13G>A, XM_011515553.2:c.13G>A, XM_011515553.1:c.13G>A, XM_017012660.2:c.13G>A, XM_017012660.1:c.13G>A, XM_011515554.2:c.13G>A, XM_011515554.1:c.13G>A, XM_011515555.2:c.13G>A, XM_011515555.1:c.13G>A, XM_011515556.2:c.13G>A, XM_011515556.1:c.13G>A, XM_011515557.2:c.13G>A, XM_011515557.1:c.13G>A, XM_017012661.2:c.13G>A, XM_017012661.1:c.13G>A, XM_024446945.2:c.13G>A, XM_024446945.1:c.13G>A, XM_017012662.2:c.13G>A, XM_017012662.1:c.13G>A, XM_017012664.2:c.13G>A, XM_017012664.1:c.13G>A, XM_017012665.2:c.13G>A, XM_017012665.1:c.13G>A, XM_047420880.1:c.13G>A, XM_047420881.1:c.13G>A, XM_047420882.1:c.13G>A, XM_047420883.1:c.13G>A, NP_001211.3:p.Val5Met, NP_742075.1:p.Val5Met, NP_742076.1:p.Val5Met, NP_742077.1:p.Val5Met, NP_742078.1:p.Val5Met, NP_742079.1:p.Val5Met, NP_742080.1:p.Val5Met, NP_742081.1:p.Val5Met, NP_001280099.1:p.Val5Met, XP_005249919.1:p.Val5Met, XP_005249921.1:p.Val5Met, XP_006715844.1:p.Val5Met, XP_006715847.1:p.Val5Met, XP_011513860.1:p.Val5Met, XP_011513849.1:p.Val5Met, XP_011513851.1:p.Val5Met, XP_011513853.1:p.Val5Met, XP_011513852.1:p.Val5Met, XP_011513854.1:p.Val5Met, XP_011513855.1:p.Val5Met, XP_016868149.1:p.Val5Met, XP_011513856.1:p.Val5Met, XP_011513857.1:p.Val5Met, XP_011513858.1:p.Val5Met, XP_011513859.1:p.Val5Met, XP_016868150.1:p.Val5Met, XP_024302713.1:p.Val5Met, XP_016868151.1:p.Val5Met, XP_016868153.1:p.Val5Met, XP_016868154.1:p.Val5Met, XP_047276836.1:p.Val5Met, XP_047276837.1:p.Val5Met, XP_047276838.1:p.Val5Met, XP_047276839.1:p.Val5Met

                  9.

                  rs1481762950 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:44243287 (GRCh38)
                    7:44282886 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:44243286:T:C
                    Gene:
                    CAMK2B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.44243287T>C, NC_000007.13:g.44282886T>C, NG_029407.1:g.87345A>G, NM_001220.5:c.564A>G, NM_001220.4:c.564A>G, NM_172078.3:c.564A>G, NM_172078.2:c.564A>G, NM_172079.3:c.564A>G, NM_172079.2:c.564A>G, NM_172080.3:c.564A>G, NM_172080.2:c.564A>G, NM_172081.3:c.564A>G, NM_172081.2:c.564A>G, NM_172082.3:c.564A>G, NM_172082.2:c.564A>G, NM_172083.3:c.564A>G, NM_172083.2:c.564A>G, NM_172084.3:c.564A>G, NM_172084.2:c.564A>G, NM_001293170.2:c.564A>G, NM_001293170.1:c.564A>G, XM_005249862.4:c.564A>G, XM_005249862.3:c.564A>G, XM_005249862.2:c.564A>G, XM_005249862.1:c.564A>G, XM_005249864.4:c.564A>G, XM_005249864.3:c.564A>G, XM_005249864.2:c.564A>G, XM_005249864.1:c.564A>G, XM_011515559.3:c.177A>G, XM_011515559.2:c.177A>G, XM_011515559.1:c.177A>G, XM_006715781.3:c.564A>G, XM_006715781.2:c.564A>G, XM_006715781.1:c.564A>G, XM_006715784.3:c.564A>G, XM_006715784.2:c.564A>G, XM_006715784.1:c.564A>G, XM_011515558.3:c.564A>G, XM_011515558.2:c.564A>G, XM_011515558.1:c.564A>G, XM_011515547.2:c.564A>G, XM_011515547.1:c.564A>G, XM_011515549.2:c.564A>G, XM_011515549.1:c.564A>G, XM_011515551.2:c.564A>G, XM_011515551.1:c.564A>G, XM_011515550.2:c.564A>G, XM_011515550.1:c.564A>G, XM_011515552.2:c.564A>G, XM_011515552.1:c.564A>G, XM_011515553.2:c.564A>G, XM_011515553.1:c.564A>G, XM_017012660.2:c.564A>G, XM_017012660.1:c.564A>G, XM_011515554.2:c.564A>G, XM_011515554.1:c.564A>G, XM_011515555.2:c.564A>G, XM_011515555.1:c.564A>G, XM_011515556.2:c.564A>G, XM_011515556.1:c.564A>G, XM_011515557.2:c.564A>G, XM_011515557.1:c.564A>G, XM_017012661.2:c.564A>G, XM_017012661.1:c.564A>G, XM_024446945.2:c.564A>G, XM_024446945.1:c.564A>G, XM_017012662.2:c.564A>G, XM_017012662.1:c.564A>G, XM_017012664.2:c.564A>G, XM_017012664.1:c.564A>G, XM_017012665.2:c.564A>G, XM_017012665.1:c.564A>G, XM_047420880.1:c.564A>G, XM_047420881.1:c.564A>G, XM_047420882.1:c.564A>G, XM_047420883.1:c.564A>G

                    10.

                    rs1481145547 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:44325410 (GRCh38)
                      7:44365009 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:44325409:C:T
                      Gene:
                      CAMK2B (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.0002/1 (ALFA)
                      T=0.0002/1 (Estonian)
                      HGVS:
                      NC_000007.14:g.44325410C>T, NC_000007.13:g.44365009C>T, NG_029407.1:g.5222G>A, NM_001220.5:c.12G>A, NM_001220.4:c.12G>A, NM_172078.3:c.12G>A, NM_172078.2:c.12G>A, NM_172079.3:c.12G>A, NM_172079.2:c.12G>A, NM_172080.3:c.12G>A, NM_172080.2:c.12G>A, NM_172081.3:c.12G>A, NM_172081.2:c.12G>A, NM_172082.3:c.12G>A, NM_172082.2:c.12G>A, NM_172083.3:c.12G>A, NM_172083.2:c.12G>A, NM_172084.3:c.12G>A, NM_172084.2:c.12G>A, NM_001293170.2:c.12G>A, NM_001293170.1:c.12G>A, XM_005249862.4:c.12G>A, XM_005249862.3:c.12G>A, XM_005249862.2:c.12G>A, XM_005249862.1:c.12G>A, XM_005249864.4:c.12G>A, XM_005249864.3:c.12G>A, XM_005249864.2:c.12G>A, XM_005249864.1:c.12G>A, XM_006715781.3:c.12G>A, XM_006715781.2:c.12G>A, XM_006715781.1:c.12G>A, XM_006715784.3:c.12G>A, XM_006715784.2:c.12G>A, XM_006715784.1:c.12G>A, XM_011515558.3:c.12G>A, XM_011515558.2:c.12G>A, XM_011515558.1:c.12G>A, XM_011515547.2:c.12G>A, XM_011515547.1:c.12G>A, XM_011515549.2:c.12G>A, XM_011515549.1:c.12G>A, XM_011515551.2:c.12G>A, XM_011515551.1:c.12G>A, XM_011515550.2:c.12G>A, XM_011515550.1:c.12G>A, XM_011515552.2:c.12G>A, XM_011515552.1:c.12G>A, XM_011515553.2:c.12G>A, XM_011515553.1:c.12G>A, XM_017012660.2:c.12G>A, XM_017012660.1:c.12G>A, XM_011515554.2:c.12G>A, XM_011515554.1:c.12G>A, XM_011515555.2:c.12G>A, XM_011515555.1:c.12G>A, XM_011515556.2:c.12G>A, XM_011515556.1:c.12G>A, XM_011515557.2:c.12G>A, XM_011515557.1:c.12G>A, XM_017012661.2:c.12G>A, XM_017012661.1:c.12G>A, XM_024446945.2:c.12G>A, XM_024446945.1:c.12G>A, XM_017012662.2:c.12G>A, XM_017012662.1:c.12G>A, XM_017012664.2:c.12G>A, XM_017012664.1:c.12G>A, XM_017012665.2:c.12G>A, XM_017012665.1:c.12G>A, XM_047420880.1:c.12G>A, XM_047420881.1:c.12G>A, XM_047420882.1:c.12G>A, XM_047420883.1:c.12G>A

                      11.

                      rs1479321111 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:44220159 (GRCh38)
                        7:44259758 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:44220158:C:T
                        Gene:
                        CAMK2B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000007.14:g.44220159C>T, NC_000007.13:g.44259758C>T, NG_029407.1:g.110473G>A, NM_001220.5:c.1904G>A, NM_001220.4:c.1904G>A, NM_172078.3:c.1532G>A, NM_172078.2:c.1532G>A, NM_172079.3:c.1460G>A, NM_172079.2:c.1460G>A, NM_172080.3:c.1457G>A, NM_172080.2:c.1457G>A, NM_172081.3:c.1415G>A, NM_172081.2:c.1415G>A, NM_172082.3:c.1382G>A, NM_172082.2:c.1382G>A, NM_172083.3:c.1343G>A, NM_172083.2:c.1343G>A, NM_172084.3:c.1253G>A, NM_172084.2:c.1253G>A, NM_001293170.2:c.1532G>A, NM_001293170.1:c.1532G>A, XM_005249862.4:c.1487G>A, XM_005249862.3:c.1487G>A, XM_005249862.2:c.1487G>A, XM_005249862.1:c.1487G>A, XM_005249864.4:c.1388G>A, XM_005249864.3:c.1388G>A, XM_005249864.2:c.1388G>A, XM_005249864.1:c.1388G>A, XM_011515559.3:c.1646G>A, XM_011515559.2:c.1646G>A, XM_011515559.1:c.1646G>A, XM_006715781.3:c.1784G>A, XM_006715781.2:c.1784G>A, XM_006715781.1:c.1784G>A, XM_006715784.3:c.1460G>A, XM_006715784.2:c.1460G>A, XM_006715784.1:c.1460G>A, XM_011515547.2:c.2033G>A, XM_011515547.1:c.2033G>A, XM_011515549.2:c.1988G>A, XM_011515549.1:c.1988G>A, XM_011515551.2:c.1961G>A, XM_011515551.1:c.1961G>A, XM_011515550.2:c.1961G>A, XM_011515550.1:c.1961G>A, XM_011515552.2:c.1958G>A, XM_011515552.1:c.1958G>A, XM_011515553.2:c.1919G>A, XM_011515553.1:c.1919G>A, XM_017012660.2:c.1916G>A, XM_017012660.1:c.1916G>A, XM_011515554.2:c.1913G>A, XM_011515554.1:c.1913G>A, XM_011515555.2:c.1904G>A, XM_011515555.1:c.1904G>A, XM_011515556.2:c.1889G>A, XM_011515556.1:c.1889G>A, XM_011515557.2:c.1886G>A, XM_011515557.1:c.1886G>A, XM_017012661.2:c.1874G>A, XM_017012661.1:c.1874G>A, XM_024446945.2:c.1790G>A, XM_024446945.1:c.1790G>A, XM_017012662.2:c.1715G>A, XM_017012662.1:c.1715G>A, XM_017012664.2:c.1412G>A, XM_017012664.1:c.1412G>A, XM_017012665.2:c.1385G>A, XM_017012665.1:c.1385G>A, XM_047420880.1:c.1832G>A, XM_047420881.1:c.1787G>A, XM_047420882.1:c.1673G>A, NP_001211.3:p.Ser635Asn, NP_742075.1:p.Ser511Asn, NP_742076.1:p.Ser487Asn, NP_742077.1:p.Ser486Asn, NP_742078.1:p.Ser472Asn, NP_742079.1:p.Ser461Asn, NP_742080.1:p.Ser448Asn, NP_742081.1:p.Ser418Asn, NP_001280099.1:p.Ser511Asn, XP_005249919.1:p.Ser496Asn, XP_005249921.1:p.Ser463Asn, XP_011513861.1:p.Ser549Asn, XP_006715844.1:p.Ser595Asn, XP_006715847.1:p.Ser487Asn, XP_011513849.1:p.Ser678Asn, XP_011513851.1:p.Ser663Asn, XP_011513853.1:p.Ser654Asn, XP_011513852.1:p.Ser654Asn, XP_011513854.1:p.Ser653Asn, XP_011513855.1:p.Ser640Asn, XP_016868149.1:p.Ser639Asn, XP_011513856.1:p.Ser638Asn, XP_011513857.1:p.Ser635Asn, XP_011513858.1:p.Ser630Asn, XP_011513859.1:p.Ser629Asn, XP_016868150.1:p.Ser625Asn, XP_024302713.1:p.Ser597Asn, XP_016868151.1:p.Ser572Asn, XP_016868153.1:p.Ser471Asn, XP_016868154.1:p.Ser462Asn, XP_047276836.1:p.Ser611Asn, XP_047276837.1:p.Ser596Asn, XP_047276838.1:p.Ser558Asn

                        12.

                        rs1479244505 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          7:44284210 (GRCh38)
                          7:44323809 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:44284209:C:A,NC_000007.14:44284209:C:G
                          Gene:
                          CAMK2B (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.0001/1 (ALFA)
                          HGVS:
                          NC_000007.14:g.44284210C>A, NC_000007.14:g.44284210C>G, NC_000007.13:g.44323809C>A, NC_000007.13:g.44323809C>G, NG_029407.1:g.46422G>T, NG_029407.1:g.46422G>C, NM_001220.5:c.81G>T, NM_001220.5:c.81G>C, NM_001220.4:c.81G>T, NM_001220.4:c.81G>C, NM_172078.3:c.81G>T, NM_172078.3:c.81G>C, NM_172078.2:c.81G>T, NM_172078.2:c.81G>C, NM_172079.3:c.81G>T, NM_172079.3:c.81G>C, NM_172079.2:c.81G>T, NM_172079.2:c.81G>C, NM_172080.3:c.81G>T, NM_172080.3:c.81G>C, NM_172080.2:c.81G>T, NM_172080.2:c.81G>C, NM_172081.3:c.81G>T, NM_172081.3:c.81G>C, NM_172081.2:c.81G>T, NM_172081.2:c.81G>C, NM_172082.3:c.81G>T, NM_172082.3:c.81G>C, NM_172082.2:c.81G>T, NM_172082.2:c.81G>C, NM_172083.3:c.81G>T, NM_172083.3:c.81G>C, NM_172083.2:c.81G>T, NM_172083.2:c.81G>C, NM_172084.3:c.81G>T, NM_172084.3:c.81G>C, NM_172084.2:c.81G>T, NM_172084.2:c.81G>C, NM_001293170.2:c.81G>T, NM_001293170.2:c.81G>C, NM_001293170.1:c.81G>T, NM_001293170.1:c.81G>C, XM_005249862.4:c.81G>T, XM_005249862.4:c.81G>C, XM_005249862.3:c.81G>T, XM_005249862.3:c.81G>C, XM_005249862.2:c.81G>T, XM_005249862.2:c.81G>C, XM_005249862.1:c.81G>T, XM_005249862.1:c.81G>C, XM_005249864.4:c.81G>T, XM_005249864.4:c.81G>C, XM_005249864.3:c.81G>T, XM_005249864.3:c.81G>C, XM_005249864.2:c.81G>T, XM_005249864.2:c.81G>C, XM_005249864.1:c.81G>T, XM_005249864.1:c.81G>C, XM_011515559.3:c.-307G>T, XM_011515559.3:c.-307G>C, XM_011515559.2:c.-307G>T, XM_011515559.2:c.-307G>C, XM_011515559.1:c.-307G>T, XM_011515559.1:c.-307G>C, XM_006715781.3:c.81G>T, XM_006715781.3:c.81G>C, XM_006715781.2:c.81G>T, XM_006715781.2:c.81G>C, XM_006715781.1:c.81G>T, XM_006715781.1:c.81G>C, XM_006715784.3:c.81G>T, XM_006715784.3:c.81G>C, XM_006715784.2:c.81G>T, XM_006715784.2:c.81G>C, XM_006715784.1:c.81G>T, XM_006715784.1:c.81G>C, XM_011515558.3:c.81G>T, XM_011515558.3:c.81G>C, XM_011515558.2:c.81G>T, XM_011515558.2:c.81G>C, XM_011515558.1:c.81G>T, XM_011515558.1:c.81G>C, XM_011515547.2:c.81G>T, XM_011515547.2:c.81G>C, XM_011515547.1:c.81G>T, XM_011515547.1:c.81G>C, XM_011515549.2:c.81G>T, XM_011515549.2:c.81G>C, XM_011515549.1:c.81G>T, XM_011515549.1:c.81G>C, XM_011515551.2:c.81G>T, XM_011515551.2:c.81G>C, XM_011515551.1:c.81G>T, XM_011515551.1:c.81G>C, XM_011515550.2:c.81G>T, XM_011515550.2:c.81G>C, XM_011515550.1:c.81G>T, XM_011515550.1:c.81G>C, XM_011515552.2:c.81G>T, XM_011515552.2:c.81G>C, XM_011515552.1:c.81G>T, XM_011515552.1:c.81G>C, XM_011515553.2:c.81G>T, XM_011515553.2:c.81G>C, XM_011515553.1:c.81G>T, XM_011515553.1:c.81G>C, XM_017012660.2:c.81G>T, XM_017012660.2:c.81G>C, XM_017012660.1:c.81G>T, XM_017012660.1:c.81G>C, XM_011515554.2:c.81G>T, XM_011515554.2:c.81G>C, XM_011515554.1:c.81G>T, XM_011515554.1:c.81G>C, XM_011515555.2:c.81G>T, XM_011515555.2:c.81G>C, XM_011515555.1:c.81G>T, XM_011515555.1:c.81G>C, XM_011515556.2:c.81G>T, XM_011515556.2:c.81G>C, XM_011515556.1:c.81G>T, XM_011515556.1:c.81G>C, XM_011515557.2:c.81G>T, XM_011515557.2:c.81G>C, XM_011515557.1:c.81G>T, XM_011515557.1:c.81G>C, XM_017012661.2:c.81G>T, XM_017012661.2:c.81G>C, XM_017012661.1:c.81G>T, XM_017012661.1:c.81G>C, XM_024446945.2:c.81G>T, XM_024446945.2:c.81G>C, XM_024446945.1:c.81G>T, XM_024446945.1:c.81G>C, XM_017012662.2:c.81G>T, XM_017012662.2:c.81G>C, XM_017012662.1:c.81G>T, XM_017012662.1:c.81G>C, XM_017012664.2:c.81G>T, XM_017012664.2:c.81G>C, XM_017012664.1:c.81G>T, XM_017012664.1:c.81G>C, XM_017012665.2:c.81G>T, XM_017012665.2:c.81G>C, XM_017012665.1:c.81G>T, XM_017012665.1:c.81G>C, XM_047420880.1:c.81G>T, XM_047420880.1:c.81G>C, XM_047420881.1:c.81G>T, XM_047420881.1:c.81G>C, XM_047420882.1:c.81G>T, XM_047420882.1:c.81G>C, XM_047420883.1:c.81G>T, XM_047420883.1:c.81G>C

                          13.

                          rs1478203275 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:44232848 (GRCh38)
                            7:44272447 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:44232847:T:C
                            Gene:
                            CAMK2B (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.44232848T>C, NC_000007.13:g.44272447T>C, NG_029407.1:g.97784A>G, NM_001220.5:c.1150A>G, NM_001220.4:c.1150A>G, NM_172078.3:c.1150A>G, NM_172078.2:c.1150A>G, NM_172079.3:c.1078A>G, NM_172079.2:c.1078A>G, NM_172080.3:c.1075A>G, NM_172080.2:c.1075A>G, NM_172082.3:c.1078A>G, NM_172082.2:c.1078A>G, NM_001293170.2:c.1150A>G, NM_001293170.1:c.1150A>G, XM_005249864.4:c.1006A>G, XM_005249864.3:c.1006A>G, XM_005249864.2:c.1006A>G, XM_005249864.1:c.1006A>G, XM_011515559.3:c.763A>G, XM_011515559.2:c.763A>G, XM_011515559.1:c.763A>G, XM_006715784.3:c.1078A>G, XM_006715784.2:c.1078A>G, XM_006715784.1:c.1078A>G, XM_011515558.3:c.1150A>G, XM_011515558.2:c.1150A>G, XM_011515558.1:c.1150A>G, XM_011515547.2:c.1150A>G, XM_011515547.1:c.1150A>G, XM_011515551.2:c.1078A>G, XM_011515551.1:c.1078A>G, XM_011515550.2:c.1078A>G, XM_011515550.1:c.1078A>G, XM_011515552.2:c.1075A>G, XM_011515552.1:c.1075A>G, XM_011515553.2:c.1150A>G, XM_011515553.1:c.1150A>G, XM_011515555.2:c.1150A>G, XM_011515555.1:c.1150A>G, XM_011515556.2:c.1006A>G, XM_011515556.1:c.1006A>G, XM_011515557.2:c.1003A>G, XM_011515557.1:c.1003A>G, XM_024446945.2:c.1150A>G, XM_024446945.1:c.1150A>G, XM_017012662.2:c.1075A>G, XM_017012662.1:c.1075A>G, XM_017012665.2:c.1003A>G, XM_017012665.1:c.1003A>G, XM_047420880.1:c.1078A>G, XM_047420883.1:c.1150A>G, NP_001211.3:p.Ile384Val, NP_742075.1:p.Ile384Val, NP_742076.1:p.Ile360Val, NP_742077.1:p.Ile359Val, NP_742079.1:p.Ile360Val, NP_001280099.1:p.Ile384Val, XP_005249921.1:p.Ile336Val, XP_011513861.1:p.Ile255Val, XP_006715847.1:p.Ile360Val, XP_011513860.1:p.Ile384Val, XP_011513849.1:p.Ile384Val, XP_011513853.1:p.Ile360Val, XP_011513852.1:p.Ile360Val, XP_011513854.1:p.Ile359Val, XP_011513855.1:p.Ile384Val, XP_011513857.1:p.Ile384Val, XP_011513858.1:p.Ile336Val, XP_011513859.1:p.Ile335Val, XP_024302713.1:p.Ile384Val, XP_016868151.1:p.Ile359Val, XP_016868154.1:p.Ile335Val, XP_047276836.1:p.Ile360Val, XP_047276839.1:p.Ile384Val

                            14.

                            rs1477858569 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:44242280 (GRCh38)
                              7:44281879 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:44242279:G:A
                              Gene:
                              CAMK2B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000007.14:g.44242280G>A, NC_000007.13:g.44281879G>A, NG_029407.1:g.88352C>T, NM_001220.5:c.757C>T, NM_001220.4:c.757C>T, NM_172078.3:c.757C>T, NM_172078.2:c.757C>T, NM_172079.3:c.757C>T, NM_172079.2:c.757C>T, NM_172080.3:c.757C>T, NM_172080.2:c.757C>T, NM_172081.3:c.757C>T, NM_172081.2:c.757C>T, NM_172082.3:c.757C>T, NM_172082.2:c.757C>T, NM_172083.3:c.757C>T, NM_172083.2:c.757C>T, NM_172084.3:c.757C>T, NM_172084.2:c.757C>T, NM_001293170.2:c.757C>T, NM_001293170.1:c.757C>T, XM_005249862.4:c.757C>T, XM_005249862.3:c.757C>T, XM_005249862.2:c.757C>T, XM_005249862.1:c.757C>T, XM_005249864.4:c.757C>T, XM_005249864.3:c.757C>T, XM_005249864.2:c.757C>T, XM_005249864.1:c.757C>T, XM_011515559.3:c.370C>T, XM_011515559.2:c.370C>T, XM_011515559.1:c.370C>T, XM_006715781.3:c.757C>T, XM_006715781.2:c.757C>T, XM_006715781.1:c.757C>T, XM_006715784.3:c.757C>T, XM_006715784.2:c.757C>T, XM_006715784.1:c.757C>T, XM_011515558.3:c.757C>T, XM_011515558.2:c.757C>T, XM_011515558.1:c.757C>T, XM_011515547.2:c.757C>T, XM_011515547.1:c.757C>T, XM_011515549.2:c.757C>T, XM_011515549.1:c.757C>T, XM_011515551.2:c.757C>T, XM_011515551.1:c.757C>T, XM_011515550.2:c.757C>T, XM_011515550.1:c.757C>T, XM_011515552.2:c.757C>T, XM_011515552.1:c.757C>T, XM_011515553.2:c.757C>T, XM_011515553.1:c.757C>T, XM_017012660.2:c.757C>T, XM_017012660.1:c.757C>T, XM_011515554.2:c.757C>T, XM_011515554.1:c.757C>T, XM_011515555.2:c.757C>T, XM_011515555.1:c.757C>T, XM_011515556.2:c.757C>T, XM_011515556.1:c.757C>T, XM_011515557.2:c.757C>T, XM_011515557.1:c.757C>T, XM_017012661.2:c.757C>T, XM_017012661.1:c.757C>T, XM_024446945.2:c.757C>T, XM_024446945.1:c.757C>T, XM_017012662.2:c.757C>T, XM_017012662.1:c.757C>T, XM_017012664.2:c.757C>T, XM_017012664.1:c.757C>T, XM_017012665.2:c.757C>T, XM_017012665.1:c.757C>T, XM_047420880.1:c.757C>T, XM_047420881.1:c.757C>T, XM_047420882.1:c.757C>T, XM_047420883.1:c.757C>T

                              15.

                              rs1477520698 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:44234459 (GRCh38)
                                7:44274058 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:44234458:G:A
                                Gene:
                                CAMK2B (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,synonymous_variant
                                HGVS:
                                NC_000007.14:g.44234459G>A, NC_000007.13:g.44274058G>A, NG_029407.1:g.96173C>T, NM_001220.5:c.1062C>T, NM_001220.4:c.1062C>T, NM_172078.3:c.1062C>T, NM_172078.2:c.1062C>T, NM_172079.3:c.990C>T, NM_172079.2:c.990C>T, NM_172080.3:c.987C>T, NM_172080.2:c.987C>T, NM_172081.3:c.990C>T, NM_172081.2:c.990C>T, NM_001293170.2:c.1062C>T, NM_001293170.1:c.1062C>T, XM_005249862.4:c.1062C>T, XM_005249862.3:c.1062C>T, XM_005249862.2:c.1062C>T, XM_005249862.1:c.1062C>T, XM_011515559.3:c.675C>T, XM_011515559.2:c.675C>T, XM_011515559.1:c.675C>T, XM_006715781.3:c.987C>T, XM_006715781.2:c.987C>T, XM_006715781.1:c.987C>T, XM_011515558.3:c.1062C>T, XM_011515558.2:c.1062C>T, XM_011515558.1:c.1062C>T, XM_011515547.2:c.1062C>T, XM_011515547.1:c.1062C>T, XM_011515549.2:c.1062C>T, XM_011515549.1:c.1062C>T, XM_011515550.2:c.990C>T, XM_011515550.1:c.990C>T, XM_011515552.2:c.987C>T, XM_011515552.1:c.987C>T, XM_011515553.2:c.1062C>T, XM_011515553.1:c.1062C>T, XM_017012660.2:c.990C>T, XM_017012660.1:c.990C>T, XM_011515554.2:c.987C>T, XM_011515554.1:c.987C>T, XM_011515555.2:c.1062C>T, XM_011515555.1:c.1062C>T, XM_017012661.2:c.1062C>T, XM_017012661.1:c.1062C>T, XM_024446945.2:c.1062C>T, XM_024446945.1:c.1062C>T, XM_017012662.2:c.987C>T, XM_017012662.1:c.987C>T, XM_017012664.2:c.987C>T, XM_017012664.1:c.987C>T, XM_047420880.1:c.990C>T, XM_047420881.1:c.990C>T, XM_047420882.1:c.990C>T, XM_047420883.1:c.1062C>T

                                16.

                                rs1477202799 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:44243292 (GRCh38)
                                  7:44282891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:44243291:G:A
                                  Gene:
                                  CAMK2B (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.44243292G>A, NC_000007.13:g.44282891G>A, NG_029407.1:g.87340C>T, NM_001220.5:c.559C>T, NM_001220.4:c.559C>T, NM_172078.3:c.559C>T, NM_172078.2:c.559C>T, NM_172079.3:c.559C>T, NM_172079.2:c.559C>T, NM_172080.3:c.559C>T, NM_172080.2:c.559C>T, NM_172081.3:c.559C>T, NM_172081.2:c.559C>T, NM_172082.3:c.559C>T, NM_172082.2:c.559C>T, NM_172083.3:c.559C>T, NM_172083.2:c.559C>T, NM_172084.3:c.559C>T, NM_172084.2:c.559C>T, NM_001293170.2:c.559C>T, NM_001293170.1:c.559C>T, XM_005249862.4:c.559C>T, XM_005249862.3:c.559C>T, XM_005249862.2:c.559C>T, XM_005249862.1:c.559C>T, XM_005249864.4:c.559C>T, XM_005249864.3:c.559C>T, XM_005249864.2:c.559C>T, XM_005249864.1:c.559C>T, XM_011515559.3:c.172C>T, XM_011515559.2:c.172C>T, XM_011515559.1:c.172C>T, XM_006715781.3:c.559C>T, XM_006715781.2:c.559C>T, XM_006715781.1:c.559C>T, XM_006715784.3:c.559C>T, XM_006715784.2:c.559C>T, XM_006715784.1:c.559C>T, XM_011515558.3:c.559C>T, XM_011515558.2:c.559C>T, XM_011515558.1:c.559C>T, XM_011515547.2:c.559C>T, XM_011515547.1:c.559C>T, XM_011515549.2:c.559C>T, XM_011515549.1:c.559C>T, XM_011515551.2:c.559C>T, XM_011515551.1:c.559C>T, XM_011515550.2:c.559C>T, XM_011515550.1:c.559C>T, XM_011515552.2:c.559C>T, XM_011515552.1:c.559C>T, XM_011515553.2:c.559C>T, XM_011515553.1:c.559C>T, XM_017012660.2:c.559C>T, XM_017012660.1:c.559C>T, XM_011515554.2:c.559C>T, XM_011515554.1:c.559C>T, XM_011515555.2:c.559C>T, XM_011515555.1:c.559C>T, XM_011515556.2:c.559C>T, XM_011515556.1:c.559C>T, XM_011515557.2:c.559C>T, XM_011515557.1:c.559C>T, XM_017012661.2:c.559C>T, XM_017012661.1:c.559C>T, XM_024446945.2:c.559C>T, XM_024446945.1:c.559C>T, XM_017012662.2:c.559C>T, XM_017012662.1:c.559C>T, XM_017012664.2:c.559C>T, XM_017012664.1:c.559C>T, XM_017012665.2:c.559C>T, XM_017012665.1:c.559C>T, XM_047420880.1:c.559C>T, XM_047420881.1:c.559C>T, XM_047420882.1:c.559C>T, XM_047420883.1:c.559C>T, NP_001211.3:p.Arg187Cys, NP_742075.1:p.Arg187Cys, NP_742076.1:p.Arg187Cys, NP_742077.1:p.Arg187Cys, NP_742078.1:p.Arg187Cys, NP_742079.1:p.Arg187Cys, NP_742080.1:p.Arg187Cys, NP_742081.1:p.Arg187Cys, NP_001280099.1:p.Arg187Cys, XP_005249919.1:p.Arg187Cys, XP_005249921.1:p.Arg187Cys, XP_011513861.1:p.Arg58Cys, XP_006715844.1:p.Arg187Cys, XP_006715847.1:p.Arg187Cys, XP_011513860.1:p.Arg187Cys, XP_011513849.1:p.Arg187Cys, XP_011513851.1:p.Arg187Cys, XP_011513853.1:p.Arg187Cys, XP_011513852.1:p.Arg187Cys, XP_011513854.1:p.Arg187Cys, XP_011513855.1:p.Arg187Cys, XP_016868149.1:p.Arg187Cys, XP_011513856.1:p.Arg187Cys, XP_011513857.1:p.Arg187Cys, XP_011513858.1:p.Arg187Cys, XP_011513859.1:p.Arg187Cys, XP_016868150.1:p.Arg187Cys, XP_024302713.1:p.Arg187Cys, XP_016868151.1:p.Arg187Cys, XP_016868153.1:p.Arg187Cys, XP_016868154.1:p.Arg187Cys, XP_047276836.1:p.Arg187Cys, XP_047276837.1:p.Arg187Cys, XP_047276838.1:p.Arg187Cys, XP_047276839.1:p.Arg187Cys

                                  17.

                                  rs1475463207 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:44243465 (GRCh38)
                                    7:44283064 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:44243464:G:A
                                    Gene:
                                    CAMK2B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.44243465G>A, NC_000007.13:g.44283064G>A, NG_029407.1:g.87167C>T, NM_001220.5:c.477C>T, NM_001220.4:c.477C>T, NM_172078.3:c.477C>T, NM_172078.2:c.477C>T, NM_172079.3:c.477C>T, NM_172079.2:c.477C>T, NM_172080.3:c.477C>T, NM_172080.2:c.477C>T, NM_172081.3:c.477C>T, NM_172081.2:c.477C>T, NM_172082.3:c.477C>T, NM_172082.2:c.477C>T, NM_172083.3:c.477C>T, NM_172083.2:c.477C>T, NM_172084.3:c.477C>T, NM_172084.2:c.477C>T, NM_001293170.2:c.477C>T, NM_001293170.1:c.477C>T, XM_005249862.4:c.477C>T, XM_005249862.3:c.477C>T, XM_005249862.2:c.477C>T, XM_005249862.1:c.477C>T, XM_005249864.4:c.477C>T, XM_005249864.3:c.477C>T, XM_005249864.2:c.477C>T, XM_005249864.1:c.477C>T, XM_011515559.3:c.90C>T, XM_011515559.2:c.90C>T, XM_011515559.1:c.90C>T, XM_006715781.3:c.477C>T, XM_006715781.2:c.477C>T, XM_006715781.1:c.477C>T, XM_006715784.3:c.477C>T, XM_006715784.2:c.477C>T, XM_006715784.1:c.477C>T, XM_011515558.3:c.477C>T, XM_011515558.2:c.477C>T, XM_011515558.1:c.477C>T, XM_011515547.2:c.477C>T, XM_011515547.1:c.477C>T, XM_011515549.2:c.477C>T, XM_011515549.1:c.477C>T, XM_011515551.2:c.477C>T, XM_011515551.1:c.477C>T, XM_011515550.2:c.477C>T, XM_011515550.1:c.477C>T, XM_011515552.2:c.477C>T, XM_011515552.1:c.477C>T, XM_011515553.2:c.477C>T, XM_011515553.1:c.477C>T, XM_017012660.2:c.477C>T, XM_017012660.1:c.477C>T, XM_011515554.2:c.477C>T, XM_011515554.1:c.477C>T, XM_011515555.2:c.477C>T, XM_011515555.1:c.477C>T, XM_011515556.2:c.477C>T, XM_011515556.1:c.477C>T, XM_011515557.2:c.477C>T, XM_011515557.1:c.477C>T, XM_017012661.2:c.477C>T, XM_017012661.1:c.477C>T, XM_024446945.2:c.477C>T, XM_024446945.1:c.477C>T, XM_017012662.2:c.477C>T, XM_017012662.1:c.477C>T, XM_017012664.2:c.477C>T, XM_017012664.1:c.477C>T, XM_017012665.2:c.477C>T, XM_017012665.1:c.477C>T, XM_047420880.1:c.477C>T, XM_047420881.1:c.477C>T, XM_047420882.1:c.477C>T, XM_047420883.1:c.477C>T

                                    18.

                                    rs1475372090 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      7:44284172 (GRCh38)
                                      7:44323771 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:44284171:T:A
                                      Gene:
                                      CAMK2B (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.44284172T>A, NC_000007.13:g.44323771T>A, NG_029407.1:g.46460A>T, NM_001220.5:c.119A>T, NM_001220.4:c.119A>T, NM_172078.3:c.119A>T, NM_172078.2:c.119A>T, NM_172079.3:c.119A>T, NM_172079.2:c.119A>T, NM_172080.3:c.119A>T, NM_172080.2:c.119A>T, NM_172081.3:c.119A>T, NM_172081.2:c.119A>T, NM_172082.3:c.119A>T, NM_172082.2:c.119A>T, NM_172083.3:c.119A>T, NM_172083.2:c.119A>T, NM_172084.3:c.119A>T, NM_172084.2:c.119A>T, NM_001293170.2:c.119A>T, NM_001293170.1:c.119A>T, XM_005249862.4:c.119A>T, XM_005249862.3:c.119A>T, XM_005249862.2:c.119A>T, XM_005249862.1:c.119A>T, XM_005249864.4:c.119A>T, XM_005249864.3:c.119A>T, XM_005249864.2:c.119A>T, XM_005249864.1:c.119A>T, XM_011515559.3:c.-269A>T, XM_011515559.2:c.-269A>T, XM_011515559.1:c.-269A>T, XM_006715781.3:c.119A>T, XM_006715781.2:c.119A>T, XM_006715781.1:c.119A>T, XM_006715784.3:c.119A>T, XM_006715784.2:c.119A>T, XM_006715784.1:c.119A>T, XM_011515558.3:c.119A>T, XM_011515558.2:c.119A>T, XM_011515558.1:c.119A>T, XM_011515547.2:c.119A>T, XM_011515547.1:c.119A>T, XM_011515549.2:c.119A>T, XM_011515549.1:c.119A>T, XM_011515551.2:c.119A>T, XM_011515551.1:c.119A>T, XM_011515550.2:c.119A>T, XM_011515550.1:c.119A>T, XM_011515552.2:c.119A>T, XM_011515552.1:c.119A>T, XM_011515553.2:c.119A>T, XM_011515553.1:c.119A>T, XM_017012660.2:c.119A>T, XM_017012660.1:c.119A>T, XM_011515554.2:c.119A>T, XM_011515554.1:c.119A>T, XM_011515555.2:c.119A>T, XM_011515555.1:c.119A>T, XM_011515556.2:c.119A>T, XM_011515556.1:c.119A>T, XM_011515557.2:c.119A>T, XM_011515557.1:c.119A>T, XM_017012661.2:c.119A>T, XM_017012661.1:c.119A>T, XM_024446945.2:c.119A>T, XM_024446945.1:c.119A>T, XM_017012662.2:c.119A>T, XM_017012662.1:c.119A>T, XM_017012664.2:c.119A>T, XM_017012664.1:c.119A>T, XM_017012665.2:c.119A>T, XM_017012665.1:c.119A>T, XM_047420880.1:c.119A>T, XM_047420881.1:c.119A>T, XM_047420882.1:c.119A>T, XM_047420883.1:c.119A>T, NP_001211.3:p.Tyr40Phe, NP_742075.1:p.Tyr40Phe, NP_742076.1:p.Tyr40Phe, NP_742077.1:p.Tyr40Phe, NP_742078.1:p.Tyr40Phe, NP_742079.1:p.Tyr40Phe, NP_742080.1:p.Tyr40Phe, NP_742081.1:p.Tyr40Phe, NP_001280099.1:p.Tyr40Phe, XP_005249919.1:p.Tyr40Phe, XP_005249921.1:p.Tyr40Phe, XP_006715844.1:p.Tyr40Phe, XP_006715847.1:p.Tyr40Phe, XP_011513860.1:p.Tyr40Phe, XP_011513849.1:p.Tyr40Phe, XP_011513851.1:p.Tyr40Phe, XP_011513853.1:p.Tyr40Phe, XP_011513852.1:p.Tyr40Phe, XP_011513854.1:p.Tyr40Phe, XP_011513855.1:p.Tyr40Phe, XP_016868149.1:p.Tyr40Phe, XP_011513856.1:p.Tyr40Phe, XP_011513857.1:p.Tyr40Phe, XP_011513858.1:p.Tyr40Phe, XP_011513859.1:p.Tyr40Phe, XP_016868150.1:p.Tyr40Phe, XP_024302713.1:p.Tyr40Phe, XP_016868151.1:p.Tyr40Phe, XP_016868153.1:p.Tyr40Phe, XP_016868154.1:p.Tyr40Phe, XP_047276836.1:p.Tyr40Phe, XP_047276837.1:p.Tyr40Phe, XP_047276838.1:p.Tyr40Phe, XP_047276839.1:p.Tyr40Phe

                                      19.

                                      rs1463275169 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:44220182 (GRCh38)
                                        7:44259781 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:44220181:G:A
                                        Gene:
                                        CAMK2B (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.44220182G>A, NC_000007.13:g.44259781G>A, NG_029407.1:g.110450C>T, NM_001220.5:c.1881C>T, NM_001220.4:c.1881C>T, NM_172078.3:c.1509C>T, NM_172078.2:c.1509C>T, NM_172079.3:c.1437C>T, NM_172079.2:c.1437C>T, NM_172080.3:c.1434C>T, NM_172080.2:c.1434C>T, NM_172081.3:c.1392C>T, NM_172081.2:c.1392C>T, NM_172082.3:c.1359C>T, NM_172082.2:c.1359C>T, NM_172083.3:c.1320C>T, NM_172083.2:c.1320C>T, NM_172084.3:c.1230C>T, NM_172084.2:c.1230C>T, NM_001293170.2:c.1509C>T, NM_001293170.1:c.1509C>T, XM_005249862.4:c.1464C>T, XM_005249862.3:c.1464C>T, XM_005249862.2:c.1464C>T, XM_005249862.1:c.1464C>T, XM_005249864.4:c.1365C>T, XM_005249864.3:c.1365C>T, XM_005249864.2:c.1365C>T, XM_005249864.1:c.1365C>T, XM_011515559.3:c.1623C>T, XM_011515559.2:c.1623C>T, XM_011515559.1:c.1623C>T, XM_006715781.3:c.1761C>T, XM_006715781.2:c.1761C>T, XM_006715781.1:c.1761C>T, XM_006715784.3:c.1437C>T, XM_006715784.2:c.1437C>T, XM_006715784.1:c.1437C>T, XM_011515547.2:c.2010C>T, XM_011515547.1:c.2010C>T, XM_011515549.2:c.1965C>T, XM_011515549.1:c.1965C>T, XM_011515551.2:c.1938C>T, XM_011515551.1:c.1938C>T, XM_011515550.2:c.1938C>T, XM_011515550.1:c.1938C>T, XM_011515552.2:c.1935C>T, XM_011515552.1:c.1935C>T, XM_011515553.2:c.1896C>T, XM_011515553.1:c.1896C>T, XM_017012660.2:c.1893C>T, XM_017012660.1:c.1893C>T, XM_011515554.2:c.1890C>T, XM_011515554.1:c.1890C>T, XM_011515555.2:c.1881C>T, XM_011515555.1:c.1881C>T, XM_011515556.2:c.1866C>T, XM_011515556.1:c.1866C>T, XM_011515557.2:c.1863C>T, XM_011515557.1:c.1863C>T, XM_017012661.2:c.1851C>T, XM_017012661.1:c.1851C>T, XM_024446945.2:c.1767C>T, XM_024446945.1:c.1767C>T, XM_017012662.2:c.1692C>T, XM_017012662.1:c.1692C>T, XM_017012664.2:c.1389C>T, XM_017012664.1:c.1389C>T, XM_017012665.2:c.1362C>T, XM_017012665.1:c.1362C>T, XM_047420880.1:c.1809C>T, XM_047420881.1:c.1764C>T, XM_047420882.1:c.1650C>T

                                        20.

                                        rs1455660734 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:44220244 (GRCh38)
                                          7:44259843 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:44220243:C:T
                                          Gene:
                                          CAMK2B (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000224/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000007.14:g.44220244C>T, NC_000007.13:g.44259843C>T, NG_029407.1:g.110388G>A, NM_001220.5:c.1819G>A, NM_001220.4:c.1819G>A, NM_172078.3:c.1447G>A, NM_172078.2:c.1447G>A, NM_172079.3:c.1375G>A, NM_172079.2:c.1375G>A, NM_172080.3:c.1372G>A, NM_172080.2:c.1372G>A, NM_172081.3:c.1330G>A, NM_172081.2:c.1330G>A, NM_172082.3:c.1297G>A, NM_172082.2:c.1297G>A, NM_172083.3:c.1258G>A, NM_172083.2:c.1258G>A, NM_172084.3:c.1168G>A, NM_172084.2:c.1168G>A, NM_001293170.2:c.1447G>A, NM_001293170.1:c.1447G>A, XM_005249862.4:c.1402G>A, XM_005249862.3:c.1402G>A, XM_005249862.2:c.1402G>A, XM_005249862.1:c.1402G>A, XM_005249864.4:c.1303G>A, XM_005249864.3:c.1303G>A, XM_005249864.2:c.1303G>A, XM_005249864.1:c.1303G>A, XM_011515559.3:c.1561G>A, XM_011515559.2:c.1561G>A, XM_011515559.1:c.1561G>A, XM_006715781.3:c.1699G>A, XM_006715781.2:c.1699G>A, XM_006715781.1:c.1699G>A, XM_006715784.3:c.1375G>A, XM_006715784.2:c.1375G>A, XM_006715784.1:c.1375G>A, XM_011515547.2:c.1948G>A, XM_011515547.1:c.1948G>A, XM_011515549.2:c.1903G>A, XM_011515549.1:c.1903G>A, XM_011515551.2:c.1876G>A, XM_011515551.1:c.1876G>A, XM_011515550.2:c.1876G>A, XM_011515550.1:c.1876G>A, XM_011515552.2:c.1873G>A, XM_011515552.1:c.1873G>A, XM_011515553.2:c.1834G>A, XM_011515553.1:c.1834G>A, XM_017012660.2:c.1831G>A, XM_017012660.1:c.1831G>A, XM_011515554.2:c.1828G>A, XM_011515554.1:c.1828G>A, XM_011515555.2:c.1819G>A, XM_011515555.1:c.1819G>A, XM_011515556.2:c.1804G>A, XM_011515556.1:c.1804G>A, XM_011515557.2:c.1801G>A, XM_011515557.1:c.1801G>A, XM_017012661.2:c.1789G>A, XM_017012661.1:c.1789G>A, XM_024446945.2:c.1705G>A, XM_024446945.1:c.1705G>A, XM_017012662.2:c.1630G>A, XM_017012662.1:c.1630G>A, XM_017012664.2:c.1327G>A, XM_017012664.1:c.1327G>A, XM_017012665.2:c.1300G>A, XM_017012665.1:c.1300G>A, XM_047420880.1:c.1747G>A, XM_047420881.1:c.1702G>A, XM_047420882.1:c.1588G>A, NP_001211.3:p.Val607Met, NP_742075.1:p.Val483Met, NP_742076.1:p.Val459Met, NP_742077.1:p.Val458Met, NP_742078.1:p.Val444Met, NP_742079.1:p.Val433Met, NP_742080.1:p.Val420Met, NP_742081.1:p.Val390Met, NP_001280099.1:p.Val483Met, XP_005249919.1:p.Val468Met, XP_005249921.1:p.Val435Met, XP_011513861.1:p.Val521Met, XP_006715844.1:p.Val567Met, XP_006715847.1:p.Val459Met, XP_011513849.1:p.Val650Met, XP_011513851.1:p.Val635Met, XP_011513853.1:p.Val626Met, XP_011513852.1:p.Val626Met, XP_011513854.1:p.Val625Met, XP_011513855.1:p.Val612Met, XP_016868149.1:p.Val611Met, XP_011513856.1:p.Val610Met, XP_011513857.1:p.Val607Met, XP_011513858.1:p.Val602Met, XP_011513859.1:p.Val601Met, XP_016868150.1:p.Val597Met, XP_024302713.1:p.Val569Met, XP_016868151.1:p.Val544Met, XP_016868153.1:p.Val443Met, XP_016868154.1:p.Val434Met, XP_047276836.1:p.Val583Met, XP_047276837.1:p.Val568Met, XP_047276838.1:p.Val530Met

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