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Items: 1 to 20 of 906

1.

rs1491444410 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    10:77637609 (GRCh38)
    10:79397367 (GRCh37)
    Canonical SPDI:
    NC_000010.11:77637608:TG:
    Gene:
    KCNMA1 (Varview)
    Functional Consequence:
    frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.000024/3 (GnomAD_exomes)
    -=0.000179/25 (GnomAD)
    HGVS:
    NC_000010.11:g.77637609_77637610del, NC_000010.10:g.79397367_79397368del, NG_012270.1:g.5210_5211del, NM_002247.4:c.33_34del, NM_002247.3:c.33_34del, NM_001014797.3:c.33_34del, NM_001014797.2:c.33_34del, NM_001322830.2:c.33_34del, NM_001322830.1:c.33_34del, NM_001322835.2:c.33_34del, NM_001322835.1:c.33_34del, NM_001322829.2:c.33_34del, NM_001322829.1:c.33_34del, NM_001322832.2:c.33_34del, NM_001322832.1:c.33_34del, NM_001271518.2:c.33_34del, NM_001271518.1:c.33_34del, NM_001161352.2:c.33_34del, NM_001161352.1:c.33_34del, NM_001161353.2:c.33_34del, NM_001161353.1:c.33_34del, NM_001322837.2:c.33_34del, NM_001322837.1:c.33_34del, NM_001271519.2:c.33_34del, NM_001271519.1:c.33_34del, NM_001322836.2:c.33_34del, NM_001322836.1:c.33_34del, NM_001271522.2:c.33_34del, NM_001271522.1:c.33_34del, NM_001271520.2:c.33_34del, NM_001271520.1:c.33_34del, NM_001322839.2:c.33_34del, NM_001322839.1:c.33_34del, NM_001271521.2:c.33_34del, NM_001271521.1:c.33_34del, NM_001410940.1:c.33_34del, XM_005269776.5:c.33_34del, XM_005269776.4:c.33_34del, XM_005269776.3:c.33_34del, XM_005269776.2:c.33_34del, XM_005269776.1:c.33_34del, XM_005269787.5:c.33_34del, XM_005269787.4:c.33_34del, XM_005269787.3:c.33_34del, XM_005269787.2:c.33_34del, XM_005269787.1:c.33_34del, XM_011539781.4:c.33_34del, XM_011539781.3:c.33_34del, XM_011539781.2:c.33_34del, XM_011539781.1:c.33_34del, XM_017016207.3:c.33_34del, XM_017016207.2:c.33_34del, XM_017016207.1:c.33_34del, XM_017016208.3:c.33_34del, XM_017016208.2:c.33_34del, XM_017016208.1:c.33_34del, XM_011539773.3:c.33_34del, XM_011539773.2:c.33_34del, XM_011539773.1:c.33_34del, XM_017016210.3:c.33_34del, XM_017016210.2:c.33_34del, XM_017016210.1:c.33_34del, XM_011539775.3:c.33_34del, XM_011539775.2:c.33_34del, XM_011539775.1:c.33_34del, XM_017016211.3:c.33_34del, XM_017016211.2:c.33_34del, XM_017016211.1:c.33_34del, XM_017016213.3:c.33_34del, XM_017016213.2:c.33_34del, XM_017016213.1:c.33_34del, XM_011539780.3:c.33_34del, XM_011539780.2:c.33_34del, XM_011539780.1:c.33_34del, XM_005269778.3:c.33_34del, XM_005269778.2:c.33_34del, XM_005269778.1:c.33_34del, XM_005269781.3:c.33_34del, XM_005269781.2:c.33_34del, XM_005269781.1:c.33_34del, XM_005269789.3:c.33_34del, XM_005269789.2:c.33_34del, XM_005269789.1:c.33_34del, XM_011539785.3:c.33_34del, XM_011539785.2:c.33_34del, XM_011539785.1:c.33_34del, XM_005269792.3:c.33_34del, XM_005269792.2:c.33_34del, XM_005269792.1:c.33_34del, XM_005269796.3:c.33_34del, XM_017016222.3:c.33_34del, XM_017016222.2:c.33_34del, XM_017016222.1:c.33_34del, XM_017016219.3:c.33_34del, XM_017016219.2:c.33_34del, XM_017016219.1:c.33_34del, XM_017016209.3:c.33_34del, XM_017016209.2:c.33_34del, XM_017016209.1:c.33_34del, XM_011539774.3:c.33_34del, XM_011539774.2:c.33_34del, XM_011539774.1:c.33_34del, XM_011539777.3:c.33_34del, XM_011539777.2:c.33_34del, XM_011539777.1:c.33_34del, XM_011539778.3:c.33_34del, XM_011539778.2:c.33_34del, XM_011539778.1:c.33_34del, XM_017016214.3:c.33_34del, XM_017016214.2:c.33_34del, XM_017016214.1:c.33_34del, XM_011539782.3:c.33_34del, XM_011539782.2:c.33_34del, XM_011539782.1:c.33_34del, XM_011539783.3:c.33_34del, XM_011539783.2:c.33_34del, XM_011539783.1:c.33_34del, XM_006717826.3:c.33_34del, XM_006717826.2:c.33_34del, XM_006717826.1:c.33_34del, XM_011539784.3:c.33_34del, XM_011539784.2:c.33_34del, XM_011539784.1:c.33_34del, XM_024447987.2:c.33_34del, XM_024447987.1:c.33_34del, XM_024447984.2:c.33_34del, XM_024447984.1:c.33_34del, XM_017016217.2:c.33_34del, XM_017016217.1:c.33_34del, XM_024447989.2:c.33_34del, XM_024447989.1:c.33_34del, XM_024447988.2:c.33_34del, XM_024447988.1:c.33_34del, XM_024447990.2:c.33_34del, XM_024447990.1:c.33_34del, XM_024447985.2:c.33_34del, XM_024447985.1:c.33_34del, XM_047425196.1:c.33_34del, XM_047425199.1:c.33_34del, XM_047425195.1:c.33_34del, XM_047425197.1:c.33_34del, XM_047425201.1:c.33_34del, XR_007061964.1:n.199_200del, NP_002238.2:p.Ser11fs, NP_001014797.1:p.Ser11fs, NP_001309759.1:p.Ser11fs, NP_001309764.1:p.Ser11fs, NP_001309758.1:p.Ser11fs, NP_001309761.1:p.Ser11fs, NP_001258447.1:p.Ser11fs, NP_001154824.1:p.Ser11fs, NP_001154825.1:p.Ser11fs, NP_001309766.1:p.Ser11fs, NP_001258448.1:p.Ser11fs, NP_001309765.1:p.Ser11fs, NP_001258451.1:p.Ser11fs, NP_001258449.1:p.Ser11fs, NP_001309768.1:p.Ser11fs, NP_001258450.1:p.Ser11fs, XP_005269833.1:p.Ser11fs, XP_005269844.1:p.Ser11fs, XP_011538083.1:p.Ser11fs, XP_016871696.1:p.Ser11fs, XP_016871697.1:p.Ser11fs, XP_011538075.1:p.Ser11fs, XP_016871699.1:p.Ser11fs, XP_011538077.1:p.Ser11fs, XP_016871700.1:p.Ser11fs, XP_016871702.1:p.Ser11fs, XP_011538082.1:p.Ser11fs, XP_005269835.1:p.Ser11fs, XP_005269838.1:p.Ser11fs, XP_005269846.1:p.Ser11fs, XP_011538087.1:p.Ser11fs, XP_005269849.1:p.Ser11fs, XP_005269853.1:p.Ser11fs, XP_016871711.2:p.Ser11fs, XP_016871708.1:p.Ser11fs, XP_016871698.1:p.Ser11fs, XP_011538076.1:p.Ser11fs, XP_011538079.1:p.Ser11fs, XP_011538080.1:p.Ser11fs, XP_016871703.1:p.Ser11fs, XP_011538084.1:p.Ser11fs, XP_011538085.1:p.Ser11fs, XP_006717889.1:p.Ser11fs, XP_011538086.1:p.Ser11fs, XP_024303755.1:p.Ser11fs, XP_024303752.1:p.Ser11fs, XP_016871706.1:p.Ser11fs, XP_024303757.1:p.Ser11fs, XP_024303756.1:p.Ser11fs, XP_024303758.1:p.Ser11fs, XP_024303753.1:p.Ser11fs, XP_047281152.1:p.Ser11fs, XP_047281155.1:p.Ser11fs, XP_047281151.1:p.Ser11fs, XP_047281153.1:p.Ser11fs, XP_047281157.1:p.Ser11fs

    2.

    rs1491384967 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGCCGCCGCCGCCGCCGC>-,TGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGC [Show Flanks]
      Chromosome:
      10:77637612 (GRCh38)
      10:79397370 (GRCh37)
      Canonical SPDI:
      NC_000010.11:77637609:GCTGCCGCCGCCGCCGCCGC:GC,NC_000010.11:77637609:GCTGCCGCCGCCGCCGCCGC:GCTGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGC
      Gene:
      KCNMA1 (Varview)
      Functional Consequence:
      inframe_insertion,non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GCTGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGC=0./0 (ALFA)
      GCTGCCGCCGCCGCCGCC=0.000051/7 (GnomAD)
      HGVS:
      NC_000010.11:g.77637612_77637629del, NC_000010.11:g.77637612_77637629dup, NC_000010.10:g.79397370_79397387del, NC_000010.10:g.79397370_79397387dup, NG_012270.1:g.5193_5210del, NG_012270.1:g.5193_5210dup, NM_002247.4:c.16_33del, NM_002247.4:c.16_33dup, NM_002247.3:c.16_33del, NM_002247.3:c.16_33dup, NM_001014797.3:c.16_33del, NM_001014797.3:c.16_33dup, NM_001014797.2:c.16_33del, NM_001014797.2:c.16_33dup, NM_001322830.2:c.16_33del, NM_001322830.2:c.16_33dup, NM_001322830.1:c.16_33del, NM_001322830.1:c.16_33dup, NM_001322835.2:c.16_33del, NM_001322835.2:c.16_33dup, NM_001322835.1:c.16_33del, NM_001322835.1:c.16_33dup, NM_001322829.2:c.16_33del, NM_001322829.2:c.16_33dup, NM_001322829.1:c.16_33del, NM_001322829.1:c.16_33dup, NM_001322832.2:c.16_33del, NM_001322832.2:c.16_33dup, NM_001322832.1:c.16_33del, NM_001322832.1:c.16_33dup, NM_001271518.2:c.16_33del, NM_001271518.2:c.16_33dup, NM_001271518.1:c.16_33del, NM_001271518.1:c.16_33dup, NM_001161352.2:c.16_33del, NM_001161352.2:c.16_33dup, NM_001161352.1:c.16_33del, NM_001161352.1:c.16_33dup, NM_001161353.2:c.16_33del, NM_001161353.2:c.16_33dup, NM_001161353.1:c.16_33del, NM_001161353.1:c.16_33dup, NM_001322837.2:c.16_33del, NM_001322837.2:c.16_33dup, NM_001322837.1:c.16_33del, NM_001322837.1:c.16_33dup, NM_001271519.2:c.16_33del, NM_001271519.2:c.16_33dup, NM_001271519.1:c.16_33del, NM_001271519.1:c.16_33dup, NM_001322836.2:c.16_33del, NM_001322836.2:c.16_33dup, NM_001322836.1:c.16_33del, NM_001322836.1:c.16_33dup, NM_001271522.2:c.16_33del, NM_001271522.2:c.16_33dup, NM_001271522.1:c.16_33del, NM_001271522.1:c.16_33dup, NM_001271520.2:c.16_33del, NM_001271520.2:c.16_33dup, NM_001271520.1:c.16_33del, NM_001271520.1:c.16_33dup, NM_001322839.2:c.16_33del, NM_001322839.2:c.16_33dup, NM_001322839.1:c.16_33del, NM_001322839.1:c.16_33dup, NM_001271521.2:c.16_33del, NM_001271521.2:c.16_33dup, NM_001271521.1:c.16_33del, NM_001271521.1:c.16_33dup, NM_001410940.1:c.16_33del, NM_001410940.1:c.16_33dup, XM_005269776.5:c.16_33del, XM_005269776.5:c.16_33dup, XM_005269776.4:c.16_33del, XM_005269776.4:c.16_33dup, XM_005269776.3:c.16_33del, XM_005269776.3:c.16_33dup, XM_005269776.2:c.16_33del, XM_005269776.2:c.16_33dup, XM_005269776.1:c.16_33del, XM_005269776.1:c.16_33dup, XM_005269787.5:c.16_33del, XM_005269787.5:c.16_33dup, XM_005269787.4:c.16_33del, XM_005269787.4:c.16_33dup, XM_005269787.3:c.16_33del, XM_005269787.3:c.16_33dup, XM_005269787.2:c.16_33del, XM_005269787.2:c.16_33dup, XM_005269787.1:c.16_33del, XM_005269787.1:c.16_33dup, XM_011539781.4:c.16_33del, XM_011539781.4:c.16_33dup, XM_011539781.3:c.16_33del, XM_011539781.3:c.16_33dup, XM_011539781.2:c.16_33del, XM_011539781.2:c.16_33dup, XM_011539781.1:c.16_33del, XM_011539781.1:c.16_33dup, XM_017016207.3:c.16_33del, XM_017016207.3:c.16_33dup, XM_017016207.2:c.16_33del, XM_017016207.2:c.16_33dup, XM_017016207.1:c.16_33del, XM_017016207.1:c.16_33dup, XM_017016208.3:c.16_33del, XM_017016208.3:c.16_33dup, XM_017016208.2:c.16_33del, XM_017016208.2:c.16_33dup, XM_017016208.1:c.16_33del, XM_017016208.1:c.16_33dup, XM_011539773.3:c.16_33del, XM_011539773.3:c.16_33dup, XM_011539773.2:c.16_33del, XM_011539773.2:c.16_33dup, XM_011539773.1:c.16_33del, XM_011539773.1:c.16_33dup, XM_017016210.3:c.16_33del, XM_017016210.3:c.16_33dup, XM_017016210.2:c.16_33del, XM_017016210.2:c.16_33dup, XM_017016210.1:c.16_33del, XM_017016210.1:c.16_33dup, XM_011539775.3:c.16_33del, XM_011539775.3:c.16_33dup, XM_011539775.2:c.16_33del, XM_011539775.2:c.16_33dup, XM_011539775.1:c.16_33del, XM_011539775.1:c.16_33dup, XM_017016211.3:c.16_33del, XM_017016211.3:c.16_33dup, XM_017016211.2:c.16_33del, XM_017016211.2:c.16_33dup, XM_017016211.1:c.16_33del, XM_017016211.1:c.16_33dup, XM_017016213.3:c.16_33del, XM_017016213.3:c.16_33dup, XM_017016213.2:c.16_33del, XM_017016213.2:c.16_33dup, XM_017016213.1:c.16_33del, XM_017016213.1:c.16_33dup, XM_011539780.3:c.16_33del, XM_011539780.3:c.16_33dup, XM_011539780.2:c.16_33del, XM_011539780.2:c.16_33dup, XM_011539780.1:c.16_33del, XM_011539780.1:c.16_33dup, XM_005269778.3:c.16_33del, XM_005269778.3:c.16_33dup, XM_005269778.2:c.16_33del, XM_005269778.2:c.16_33dup, XM_005269778.1:c.16_33del, XM_005269778.1:c.16_33dup, XM_005269781.3:c.16_33del, XM_005269781.3:c.16_33dup, XM_005269781.2:c.16_33del, XM_005269781.2:c.16_33dup, XM_005269781.1:c.16_33del, XM_005269781.1:c.16_33dup, XM_005269789.3:c.16_33del, XM_005269789.3:c.16_33dup, XM_005269789.2:c.16_33del, XM_005269789.2:c.16_33dup, XM_005269789.1:c.16_33del, XM_005269789.1:c.16_33dup, XM_011539785.3:c.16_33del, XM_011539785.3:c.16_33dup, XM_011539785.2:c.16_33del, XM_011539785.2:c.16_33dup, XM_011539785.1:c.16_33del, XM_011539785.1:c.16_33dup, XM_005269792.3:c.16_33del, XM_005269792.3:c.16_33dup, XM_005269792.2:c.16_33del, XM_005269792.2:c.16_33dup, XM_005269792.1:c.16_33del, XM_005269792.1:c.16_33dup, XM_005269796.3:c.16_33del, XM_005269796.3:c.16_33dup, XM_017016222.3:c.16_33del, XM_017016222.3:c.16_33dup, XM_017016222.2:c.16_33del, XM_017016222.2:c.16_33dup, XM_017016222.1:c.16_33del, XM_017016222.1:c.16_33dup, XM_017016219.3:c.16_33del, XM_017016219.3:c.16_33dup, XM_017016219.2:c.16_33del, XM_017016219.2:c.16_33dup, XM_017016219.1:c.16_33del, XM_017016219.1:c.16_33dup, XM_017016209.3:c.16_33del, XM_017016209.3:c.16_33dup, XM_017016209.2:c.16_33del, XM_017016209.2:c.16_33dup, XM_017016209.1:c.16_33del, XM_017016209.1:c.16_33dup, XM_011539774.3:c.16_33del, XM_011539774.3:c.16_33dup, XM_011539774.2:c.16_33del, XM_011539774.2:c.16_33dup, XM_011539774.1:c.16_33del, XM_011539774.1:c.16_33dup, XM_011539777.3:c.16_33del, XM_011539777.3:c.16_33dup, XM_011539777.2:c.16_33del, XM_011539777.2:c.16_33dup, XM_011539777.1:c.16_33del, XM_011539777.1:c.16_33dup, XM_011539778.3:c.16_33del, XM_011539778.3:c.16_33dup, XM_011539778.2:c.16_33del, XM_011539778.2:c.16_33dup, XM_011539778.1:c.16_33del, XM_011539778.1:c.16_33dup, XM_017016214.3:c.16_33del, XM_017016214.3:c.16_33dup, XM_017016214.2:c.16_33del, XM_017016214.2:c.16_33dup, XM_017016214.1:c.16_33del, XM_017016214.1:c.16_33dup, XM_011539782.3:c.16_33del, XM_011539782.3:c.16_33dup, XM_011539782.2:c.16_33del, XM_011539782.2:c.16_33dup, XM_011539782.1:c.16_33del, XM_011539782.1:c.16_33dup, XM_011539783.3:c.16_33del, XM_011539783.3:c.16_33dup, XM_011539783.2:c.16_33del, XM_011539783.2:c.16_33dup, XM_011539783.1:c.16_33del, XM_011539783.1:c.16_33dup, XM_006717826.3:c.16_33del, XM_006717826.3:c.16_33dup, XM_006717826.2:c.16_33del, XM_006717826.2:c.16_33dup, XM_006717826.1:c.16_33del, XM_006717826.1:c.16_33dup, XM_011539784.3:c.16_33del, XM_011539784.3:c.16_33dup, XM_011539784.2:c.16_33del, XM_011539784.2:c.16_33dup, XM_011539784.1:c.16_33del, XM_011539784.1:c.16_33dup, XM_024447987.2:c.16_33del, XM_024447987.2:c.16_33dup, XM_024447987.1:c.16_33del, XM_024447987.1:c.16_33dup, XM_024447984.2:c.16_33del, XM_024447984.2:c.16_33dup, XM_024447984.1:c.16_33del, XM_024447984.1:c.16_33dup, XM_017016217.2:c.16_33del, XM_017016217.2:c.16_33dup, XM_017016217.1:c.16_33del, XM_017016217.1:c.16_33dup, XM_024447989.2:c.16_33del, XM_024447989.2:c.16_33dup, XM_024447989.1:c.16_33del, XM_024447989.1:c.16_33dup, XM_024447988.2:c.16_33del, XM_024447988.2:c.16_33dup, XM_024447988.1:c.16_33del, XM_024447988.1:c.16_33dup, XM_024447990.2:c.16_33del, XM_024447990.2:c.16_33dup, XM_024447990.1:c.16_33del, XM_024447990.1:c.16_33dup, XM_024447985.2:c.16_33del, XM_024447985.2:c.16_33dup, XM_024447985.1:c.16_33del, XM_024447985.1:c.16_33dup, XM_047425196.1:c.16_33del, XM_047425196.1:c.16_33dup, XM_047425199.1:c.16_33del, XM_047425199.1:c.16_33dup, XM_047425195.1:c.16_33del, XM_047425195.1:c.16_33dup, XM_047425197.1:c.16_33del, XM_047425197.1:c.16_33dup, XM_047425201.1:c.16_33del, XM_047425201.1:c.16_33dup, XR_007061964.1:n.182_199del, XR_007061964.1:n.182_199dup, NP_002238.2:p.Gly6_Ser11del, NP_002238.2:p.Gly6_Ser11dup, NP_001014797.1:p.Gly6_Ser11del, NP_001014797.1:p.Gly6_Ser11dup, NP_001309759.1:p.Gly6_Ser11del, NP_001309759.1:p.Gly6_Ser11dup, NP_001309764.1:p.Gly6_Ser11del, NP_001309764.1:p.Gly6_Ser11dup, NP_001309758.1:p.Gly6_Ser11del, NP_001309758.1:p.Gly6_Ser11dup, NP_001309761.1:p.Gly6_Ser11del, NP_001309761.1:p.Gly6_Ser11dup, NP_001258447.1:p.Gly6_Ser11del, NP_001258447.1:p.Gly6_Ser11dup, NP_001154824.1:p.Gly6_Ser11del, NP_001154824.1:p.Gly6_Ser11dup, NP_001154825.1:p.Gly6_Ser11del, NP_001154825.1:p.Gly6_Ser11dup, NP_001309766.1:p.Gly6_Ser11del, NP_001309766.1:p.Gly6_Ser11dup, NP_001258448.1:p.Gly6_Ser11del, NP_001258448.1:p.Gly6_Ser11dup, NP_001309765.1:p.Gly6_Ser11del, NP_001309765.1:p.Gly6_Ser11dup, NP_001258451.1:p.Gly6_Ser11del, NP_001258451.1:p.Gly6_Ser11dup, NP_001258449.1:p.Gly6_Ser11del, NP_001258449.1:p.Gly6_Ser11dup, NP_001309768.1:p.Gly6_Ser11del, NP_001309768.1:p.Gly6_Ser11dup, NP_001258450.1:p.Gly6_Ser11del, NP_001258450.1:p.Gly6_Ser11dup, XP_005269833.1:p.Gly6_Ser11del, XP_005269833.1:p.Gly6_Ser11dup, XP_005269844.1:p.Gly6_Ser11del, XP_005269844.1:p.Gly6_Ser11dup, XP_011538083.1:p.Gly6_Ser11del, XP_011538083.1:p.Gly6_Ser11dup, XP_016871696.1:p.Gly6_Ser11del, XP_016871696.1:p.Gly6_Ser11dup, XP_016871697.1:p.Gly6_Ser11del, XP_016871697.1:p.Gly6_Ser11dup, XP_011538075.1:p.Gly6_Ser11del, XP_011538075.1:p.Gly6_Ser11dup, XP_016871699.1:p.Gly6_Ser11del, XP_016871699.1:p.Gly6_Ser11dup, XP_011538077.1:p.Gly6_Ser11del, XP_011538077.1:p.Gly6_Ser11dup, XP_016871700.1:p.Gly6_Ser11del, XP_016871700.1:p.Gly6_Ser11dup, XP_016871702.1:p.Gly6_Ser11del, XP_016871702.1:p.Gly6_Ser11dup, XP_011538082.1:p.Gly6_Ser11del, XP_011538082.1:p.Gly6_Ser11dup, XP_005269835.1:p.Gly6_Ser11del, XP_005269835.1:p.Gly6_Ser11dup, XP_005269838.1:p.Gly6_Ser11del, XP_005269838.1:p.Gly6_Ser11dup, XP_005269846.1:p.Gly6_Ser11del, XP_005269846.1:p.Gly6_Ser11dup, XP_011538087.1:p.Gly6_Ser11del, XP_011538087.1:p.Gly6_Ser11dup, XP_005269849.1:p.Gly6_Ser11del, XP_005269849.1:p.Gly6_Ser11dup, XP_005269853.1:p.Gly6_Ser11del, XP_005269853.1:p.Gly6_Ser11dup, XP_016871711.2:p.Gly6_Ser11del, XP_016871711.2:p.Gly6_Ser11dup, XP_016871708.1:p.Gly6_Ser11del, XP_016871708.1:p.Gly6_Ser11dup, XP_016871698.1:p.Gly6_Ser11del, XP_016871698.1:p.Gly6_Ser11dup, XP_011538076.1:p.Gly6_Ser11del, XP_011538076.1:p.Gly6_Ser11dup, XP_011538079.1:p.Gly6_Ser11del, XP_011538079.1:p.Gly6_Ser11dup, XP_011538080.1:p.Gly6_Ser11del, XP_011538080.1:p.Gly6_Ser11dup, XP_016871703.1:p.Gly6_Ser11del, XP_016871703.1:p.Gly6_Ser11dup, XP_011538084.1:p.Gly6_Ser11del, XP_011538084.1:p.Gly6_Ser11dup, XP_011538085.1:p.Gly6_Ser11del, XP_011538085.1:p.Gly6_Ser11dup, XP_006717889.1:p.Gly6_Ser11del, XP_006717889.1:p.Gly6_Ser11dup, XP_011538086.1:p.Gly6_Ser11del, XP_011538086.1:p.Gly6_Ser11dup, XP_024303755.1:p.Gly6_Ser11del, XP_024303755.1:p.Gly6_Ser11dup, XP_024303752.1:p.Gly6_Ser11del, XP_024303752.1:p.Gly6_Ser11dup, XP_016871706.1:p.Gly6_Ser11del, XP_016871706.1:p.Gly6_Ser11dup, XP_024303757.1:p.Gly6_Ser11del, XP_024303757.1:p.Gly6_Ser11dup, XP_024303756.1:p.Gly6_Ser11del, XP_024303756.1:p.Gly6_Ser11dup, XP_024303758.1:p.Gly6_Ser11del, XP_024303758.1:p.Gly6_Ser11dup, XP_024303753.1:p.Gly6_Ser11del, XP_024303753.1:p.Gly6_Ser11dup, XP_047281152.1:p.Gly6_Ser11del, XP_047281152.1:p.Gly6_Ser11dup, XP_047281155.1:p.Gly6_Ser11del, XP_047281155.1:p.Gly6_Ser11dup, XP_047281151.1:p.Gly6_Ser11del, XP_047281151.1:p.Gly6_Ser11dup, XP_047281153.1:p.Gly6_Ser11del, XP_047281153.1:p.Gly6_Ser11dup, XP_047281157.1:p.Gly6_Ser11del, XP_047281157.1:p.Gly6_Ser11dup

      3.

      rs1489363135 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        10:76891694 (GRCh38)
        10:78651452 (GRCh37)
        Canonical SPDI:
        NC_000010.11:76891693:G:C
        Gene:
        KCNMA1 (Varview), KCNMA1-AS1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.76891694G>C, NC_000010.10:g.78651452G>C, NG_012270.1:g.751126C>G, NM_002247.4:c.2999C>G, NM_002247.3:c.2999C>G, NM_001014797.3:c.3011C>G, NM_001014797.2:c.3011C>G, NM_001322830.2:c.3101C>G, NM_001322830.1:c.3101C>G, NM_001322835.2:c.3092C>G, NM_001322835.1:c.3092C>G, NM_001322838.2:c.2546C>G, NM_001322838.1:c.2546C>G, NM_001322829.2:c.3008C>G, NM_001322829.1:c.3008C>G, NM_001322832.2:c.2999C>G, NM_001322832.1:c.2999C>G, NM_001271518.2:c.2849C>G, NM_001271518.1:c.2849C>G, NM_001161352.2:c.3173C>G, NM_001161352.1:c.3173C>G, NM_001161353.2:c.3122C>G, NM_001161353.1:c.3122C>G, NM_001322837.2:c.3092C>G, NM_001322837.1:c.3092C>G, NM_001271519.2:c.3089C>G, NM_001271519.1:c.3089C>G, NM_001322836.2:c.3008C>G, NM_001322836.1:c.3008C>G, NM_001410940.1:c.2999C>G, XM_005269776.5:c.3080C>G, XM_005269776.4:c.3080C>G, XM_005269776.3:c.3080C>G, XM_005269776.2:c.3080C>G, XM_005269776.1:c.3080C>G, XM_005269787.5:c.2999C>G, XM_005269787.4:c.2999C>G, XM_005269787.3:c.2999C>G, XM_005269787.2:c.2999C>G, XM_005269787.1:c.2999C>G, XM_011539781.4:c.3143C>G, XM_011539781.3:c.3143C>G, XM_011539781.2:c.3143C>G, XM_011539781.1:c.3143C>G, XM_017016207.3:c.3398C>G, XM_017016207.2:c.3398C>G, XM_017016207.1:c.3398C>G, XM_017016208.3:c.3398C>G, XM_017016208.2:c.3398C>G, XM_017016208.1:c.3398C>G, XM_011539773.3:c.3317C>G, XM_011539773.2:c.3317C>G, XM_011539773.1:c.3317C>G, XM_017016210.3:c.3317C>G, XM_017016210.2:c.3317C>G, XM_017016210.1:c.3317C>G, XM_011539775.3:c.3305C>G, XM_011539775.2:c.3305C>G, XM_011539775.1:c.3305C>G, XM_017016211.3:c.3230C>G, XM_017016211.2:c.3230C>G, XM_017016211.1:c.3230C>G, XM_017016213.3:c.3218C>G, XM_017016213.2:c.3218C>G, XM_017016213.1:c.3218C>G, XM_011539780.3:c.3185C>G, XM_011539780.2:c.3185C>G, XM_011539780.1:c.3185C>G, XM_005269778.3:c.3185C>G, XM_005269778.2:c.3185C>G, XM_005269778.1:c.3185C>G, XM_005269781.3:c.3173C>G, XM_005269781.2:c.3173C>G, XM_005269781.1:c.3173C>G, XM_005269789.3:c.3092C>G, XM_005269789.2:c.3092C>G, XM_005269789.1:c.3092C>G, XM_011539785.3:c.3089C>G, XM_011539785.2:c.3089C>G, XM_011539785.1:c.3089C>G, XM_005269792.3:c.3086C>G, XM_005269792.2:c.3086C>G, XM_005269792.1:c.3086C>G, XM_005269796.3:c.2999C>G, XM_017016222.3:c.2999C>G, XM_017016222.2:c.2999C>G, XM_017016222.1:c.2999C>G, XM_017016209.3:c.3386C>G, XM_017016209.2:c.3386C>G, XM_017016209.1:c.3386C>G, XM_011539774.3:c.3311C>G, XM_011539774.2:c.3311C>G, XM_011539774.1:c.3311C>G, XM_011539777.3:c.3266C>G, XM_011539777.2:c.3266C>G, XM_011539777.1:c.3266C>G, XM_011539778.3:c.3254C>G, XM_011539778.2:c.3254C>G, XM_011539778.1:c.3254C>G, XM_017016214.3:c.3212C>G, XM_017016214.2:c.3212C>G, XM_017016214.1:c.3212C>G, XM_011539782.3:c.3131C>G, XM_011539782.2:c.3131C>G, XM_011539782.1:c.3131C>G, XM_011539783.3:c.3098C>G, XM_011539783.2:c.3098C>G, XM_011539783.1:c.3098C>G, XM_006717826.3:c.3080C>G, XM_006717826.2:c.3080C>G, XM_006717826.1:c.3080C>G, XM_024447986.2:c.2792C>G, XM_024447986.1:c.2792C>G, XM_024447987.2:c.3173C>G, XM_024447987.1:c.3173C>G, XM_024447984.2:c.3173C>G, XM_024447984.1:c.3173C>G, XM_017016217.2:c.3131C>G, XM_017016217.1:c.3131C>G, XM_024447989.2:c.3011C>G, XM_024447989.1:c.3011C>G, XM_024447988.2:c.3011C>G, XM_024447988.1:c.3011C>G, XM_024447990.2:c.2999C>G, XM_024447990.1:c.2999C>G, XM_024447985.2:c.3011C>G, XM_024447985.1:c.3011C>G, XM_047425196.1:c.3218C>G, XM_047425199.1:c.3086C>G, XM_017016223.1:c.2546C>G, XM_047425195.1:c.3224C>G, XM_047425197.1:c.3167C>G, XM_047425200.1:c.2498C>G, NP_002238.2:p.Thr1000Ser, NP_001014797.1:p.Thr1004Ser, NP_001309759.1:p.Thr1034Ser, NP_001309764.1:p.Thr1031Ser, NP_001309767.1:p.Thr849Ser, NP_001309758.1:p.Thr1003Ser, NP_001309761.1:p.Thr1000Ser, NP_001258447.1:p.Thr950Ser, NP_001154824.1:p.Thr1058Ser, NP_001154825.1:p.Thr1041Ser, NP_001309766.1:p.Thr1031Ser, NP_001258448.1:p.Thr1030Ser, NP_001309765.1:p.Thr1003Ser, XP_005269833.1:p.Thr1027Ser, XP_005269844.1:p.Thr1000Ser, XP_011538083.1:p.Thr1048Ser, XP_016871696.1:p.Thr1133Ser, XP_016871697.1:p.Thr1133Ser, XP_011538075.1:p.Thr1106Ser, XP_016871699.1:p.Thr1106Ser, XP_011538077.1:p.Thr1102Ser, XP_016871700.1:p.Thr1077Ser, XP_016871702.1:p.Thr1073Ser, XP_011538082.1:p.Thr1062Ser, XP_005269835.1:p.Thr1062Ser, XP_005269838.1:p.Thr1058Ser, XP_005269846.1:p.Thr1031Ser, XP_011538087.1:p.Thr1030Ser, XP_005269849.1:p.Thr1029Ser, XP_005269853.1:p.Thr1000Ser, XP_016871711.2:p.Thr1000Ser, XP_016871698.1:p.Thr1129Ser, XP_011538076.1:p.Thr1104Ser, XP_011538079.1:p.Thr1089Ser, XP_011538080.1:p.Thr1085Ser, XP_016871703.1:p.Thr1071Ser, XP_011538084.1:p.Thr1044Ser, XP_011538085.1:p.Thr1033Ser, XP_006717889.1:p.Thr1027Ser, XP_024303754.1:p.Thr931Ser, XP_024303755.1:p.Thr1058Ser, XP_024303752.1:p.Thr1058Ser, XP_016871706.1:p.Thr1044Ser, XP_024303757.1:p.Thr1004Ser, XP_024303756.1:p.Thr1004Ser, XP_024303758.1:p.Thr1000Ser, XP_024303753.1:p.Thr1004Ser, XP_047281152.1:p.Thr1073Ser, XP_047281155.1:p.Thr1029Ser, XP_016871712.1:p.Thr849Ser, XP_047281151.1:p.Thr1075Ser, XP_047281153.1:p.Thr1056Ser, XP_047281156.1:p.Thr833Ser

        4.

        rs1486636115 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          10:77112397 (GRCh38)
          10:78872155 (GRCh37)
          Canonical SPDI:
          NC_000010.11:77112396:C:A,NC_000010.11:77112396:C:T
          Gene:
          KCNMA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000010.11:g.77112397C>A, NC_000010.11:g.77112397C>T, NC_000010.10:g.78872155C>A, NC_000010.10:g.78872155C>T, NG_012270.1:g.530423G>T, NG_012270.1:g.530423G>A, NM_002247.4:c.930G>T, NM_002247.4:c.930G>A, NM_002247.3:c.930G>T, NM_002247.3:c.930G>A, NM_001014797.3:c.930G>T, NM_001014797.3:c.930G>A, NM_001014797.2:c.930G>T, NM_001014797.2:c.930G>A, NM_001322830.2:c.930G>T, NM_001322830.2:c.930G>A, NM_001322830.1:c.930G>T, NM_001322830.1:c.930G>A, NM_001322835.2:c.930G>T, NM_001322835.2:c.930G>A, NM_001322835.1:c.930G>T, NM_001322835.1:c.930G>A, NM_001322838.2:c.390G>T, NM_001322838.2:c.390G>A, NM_001322838.1:c.390G>T, NM_001322838.1:c.390G>A, NM_001322829.2:c.930G>T, NM_001322829.2:c.930G>A, NM_001322829.1:c.930G>T, NM_001322829.1:c.930G>A, NM_001322832.2:c.930G>T, NM_001322832.2:c.930G>A, NM_001322832.1:c.930G>T, NM_001322832.1:c.930G>A, NM_001271518.2:c.768G>T, NM_001271518.2:c.768G>A, NM_001271518.1:c.768G>T, NM_001271518.1:c.768G>A, NM_001161352.2:c.930G>T, NM_001161352.2:c.930G>A, NM_001161352.1:c.930G>T, NM_001161352.1:c.930G>A, NM_001161353.2:c.930G>T, NM_001161353.2:c.930G>A, NM_001161353.1:c.930G>T, NM_001161353.1:c.930G>A, NM_001322837.2:c.930G>T, NM_001322837.2:c.930G>A, NM_001322837.1:c.930G>T, NM_001322837.1:c.930G>A, NM_001271519.2:c.930G>T, NM_001271519.2:c.930G>A, NM_001271519.1:c.930G>T, NM_001271519.1:c.930G>A, NM_001322836.2:c.930G>T, NM_001322836.2:c.930G>A, NM_001322836.1:c.930G>T, NM_001322836.1:c.930G>A, NM_001410940.1:c.930G>T, NM_001410940.1:c.930G>A, XM_005269776.5:c.930G>T, XM_005269776.5:c.930G>A, XM_005269776.4:c.930G>T, XM_005269776.4:c.930G>A, XM_005269776.3:c.930G>T, XM_005269776.3:c.930G>A, XM_005269776.2:c.930G>T, XM_005269776.2:c.930G>A, XM_005269776.1:c.930G>T, XM_005269776.1:c.930G>A, XM_005269787.5:c.930G>T, XM_005269787.5:c.930G>A, XM_005269787.4:c.930G>T, XM_005269787.4:c.930G>A, XM_005269787.3:c.930G>T, XM_005269787.3:c.930G>A, XM_005269787.2:c.930G>T, XM_005269787.2:c.930G>A, XM_005269787.1:c.930G>T, XM_005269787.1:c.930G>A, XM_011539781.4:c.1062G>T, XM_011539781.4:c.1062G>A, XM_011539781.3:c.1062G>T, XM_011539781.3:c.1062G>A, XM_011539781.2:c.1062G>T, XM_011539781.2:c.1062G>A, XM_011539781.1:c.1062G>T, XM_011539781.1:c.1062G>A, XM_017016207.3:c.1062G>T, XM_017016207.3:c.1062G>A, XM_017016207.2:c.1062G>T, XM_017016207.2:c.1062G>A, XM_017016207.1:c.1062G>T, XM_017016207.1:c.1062G>A, XM_017016208.3:c.1062G>T, XM_017016208.3:c.1062G>A, XM_017016208.2:c.1062G>T, XM_017016208.2:c.1062G>A, XM_017016208.1:c.1062G>T, XM_017016208.1:c.1062G>A, XM_011539773.3:c.1062G>T, XM_011539773.3:c.1062G>A, XM_011539773.2:c.1062G>T, XM_011539773.2:c.1062G>A, XM_011539773.1:c.1062G>T, XM_011539773.1:c.1062G>A, XM_017016210.3:c.1062G>T, XM_017016210.3:c.1062G>A, XM_017016210.2:c.1062G>T, XM_017016210.2:c.1062G>A, XM_017016210.1:c.1062G>T, XM_017016210.1:c.1062G>A, XM_011539775.3:c.1062G>T, XM_011539775.3:c.1062G>A, XM_011539775.2:c.1062G>T, XM_011539775.2:c.1062G>A, XM_011539775.1:c.1062G>T, XM_011539775.1:c.1062G>A, XM_017016211.3:c.1062G>T, XM_017016211.3:c.1062G>A, XM_017016211.2:c.1062G>T, XM_017016211.2:c.1062G>A, XM_017016211.1:c.1062G>T, XM_017016211.1:c.1062G>A, XM_017016213.3:c.1062G>T, XM_017016213.3:c.1062G>A, XM_017016213.2:c.1062G>T, XM_017016213.2:c.1062G>A, XM_017016213.1:c.1062G>T, XM_017016213.1:c.1062G>A, XM_011539780.3:c.930G>T, XM_011539780.3:c.930G>A, XM_011539780.2:c.930G>T, XM_011539780.2:c.930G>A, XM_011539780.1:c.930G>T, XM_011539780.1:c.930G>A, XM_005269778.3:c.930G>T, XM_005269778.3:c.930G>A, XM_005269778.2:c.930G>T, XM_005269778.2:c.930G>A, XM_005269778.1:c.930G>T, XM_005269778.1:c.930G>A, XM_005269781.3:c.930G>T, XM_005269781.3:c.930G>A, XM_005269781.2:c.930G>T, XM_005269781.2:c.930G>A, XM_005269781.1:c.930G>T, XM_005269781.1:c.930G>A, XM_005269789.3:c.930G>T, XM_005269789.3:c.930G>A, XM_005269789.2:c.930G>T, XM_005269789.2:c.930G>A, XM_005269789.1:c.930G>T, XM_005269789.1:c.930G>A, XM_011539785.3:c.930G>T, XM_011539785.3:c.930G>A, XM_011539785.2:c.930G>T, XM_011539785.2:c.930G>A, XM_011539785.1:c.930G>T, XM_011539785.1:c.930G>A, XM_005269792.3:c.930G>T, XM_005269792.3:c.930G>A, XM_005269792.2:c.930G>T, XM_005269792.2:c.930G>A, XM_005269792.1:c.930G>T, XM_005269792.1:c.930G>A, XM_005269796.3:c.930G>T, XM_005269796.3:c.930G>A, XM_017016222.3:c.930G>T, XM_017016222.3:c.930G>A, XM_017016222.2:c.930G>T, XM_017016222.2:c.930G>A, XM_017016222.1:c.930G>T, XM_017016222.1:c.930G>A, XM_017016219.3:c.1062G>T, XM_017016219.3:c.1062G>A, XM_017016219.2:c.1062G>T, XM_017016219.2:c.1062G>A, XM_017016219.1:c.1062G>T, XM_017016219.1:c.1062G>A, XM_017016209.3:c.1062G>T, XM_017016209.3:c.1062G>A, XM_017016209.2:c.1062G>T, XM_017016209.2:c.1062G>A, XM_017016209.1:c.1062G>T, XM_017016209.1:c.1062G>A, XM_011539774.3:c.1062G>T, XM_011539774.3:c.1062G>A, XM_011539774.2:c.1062G>T, XM_011539774.2:c.1062G>A, XM_011539774.1:c.1062G>T, XM_011539774.1:c.1062G>A, XM_011539777.3:c.930G>T, XM_011539777.3:c.930G>A, XM_011539777.2:c.930G>T, XM_011539777.2:c.930G>A, XM_011539777.1:c.930G>T, XM_011539777.1:c.930G>A, XM_011539778.3:c.930G>T, XM_011539778.3:c.930G>A, XM_011539778.2:c.930G>T, XM_011539778.2:c.930G>A, XM_011539778.1:c.930G>T, XM_011539778.1:c.930G>A, XM_017016214.3:c.1062G>T, XM_017016214.3:c.1062G>A, XM_017016214.2:c.1062G>T, XM_017016214.2:c.1062G>A, XM_017016214.1:c.1062G>T, XM_017016214.1:c.1062G>A, XM_011539782.3:c.1062G>T, XM_011539782.3:c.1062G>A, XM_011539782.2:c.1062G>T, XM_011539782.2:c.1062G>A, XM_011539782.1:c.1062G>T, XM_011539782.1:c.1062G>A, XM_011539783.3:c.930G>T, XM_011539783.3:c.930G>A, XM_011539783.2:c.930G>T, XM_011539783.2:c.930G>A, XM_011539783.1:c.930G>T, XM_011539783.1:c.930G>A, XM_006717826.3:c.930G>T, XM_006717826.3:c.930G>A, XM_006717826.2:c.930G>T, XM_006717826.2:c.930G>A, XM_006717826.1:c.930G>T, XM_006717826.1:c.930G>A, XM_011539784.3:c.1062G>T, XM_011539784.3:c.1062G>A, XM_011539784.2:c.1062G>T, XM_011539784.2:c.1062G>A, XM_011539784.1:c.1062G>T, XM_011539784.1:c.1062G>A, XM_024447986.2:c.456G>T, XM_024447986.2:c.456G>A, XM_024447986.1:c.456G>T, XM_024447986.1:c.456G>A, XM_024447987.2:c.930G>T, XM_024447987.2:c.930G>A, XM_024447987.1:c.930G>T, XM_024447987.1:c.930G>A, XM_024447984.2:c.930G>T, XM_024447984.2:c.930G>A, XM_024447984.1:c.930G>T, XM_024447984.1:c.930G>A, XM_017016217.2:c.1062G>T, XM_017016217.2:c.1062G>A, XM_017016217.1:c.1062G>T, XM_017016217.1:c.1062G>A, XM_024447989.2:c.930G>T, XM_024447989.2:c.930G>A, XM_024447989.1:c.930G>T, XM_024447989.1:c.930G>A, XM_024447988.2:c.930G>T, XM_024447988.2:c.930G>A, XM_024447988.1:c.930G>T, XM_024447988.1:c.930G>A, XM_024447990.2:c.930G>T, XM_024447990.2:c.930G>A, XM_024447990.1:c.930G>T, XM_024447990.1:c.930G>A, XM_024447985.2:c.930G>T, XM_024447985.2:c.930G>A, XM_024447985.1:c.930G>T, XM_024447985.1:c.930G>A, XM_047425196.1:c.1062G>T, XM_047425196.1:c.1062G>A, XM_047425199.1:c.930G>T, XM_047425199.1:c.930G>A, XM_017016223.1:c.390G>T, XM_017016223.1:c.390G>A, XM_047425195.1:c.1062G>T, XM_047425195.1:c.1062G>A, XM_047425197.1:c.930G>T, XM_047425197.1:c.930G>A, XM_047425200.1:c.429G>T, XM_047425200.1:c.429G>A, XM_047425201.1:c.930G>T, XM_047425201.1:c.930G>A

          5.

          rs1486355508 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            10:77403929 (GRCh38)
            10:79163687 (GRCh37)
            Canonical SPDI:
            NC_000010.11:77403928:C:A
            Gene:
            KCNMA1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            HGVS:
            NC_000010.11:g.77403929C>A, NC_000010.10:g.79163687C>A, NG_012270.1:g.238891G>T, NM_002247.4:c.473G>T, NM_002247.3:c.473G>T, NM_001014797.3:c.473G>T, NM_001014797.2:c.473G>T, NM_001322830.2:c.473G>T, NM_001322830.1:c.473G>T, NM_001322835.2:c.473G>T, NM_001322835.1:c.473G>T, NM_001322829.2:c.473G>T, NM_001322829.1:c.473G>T, NM_001322832.2:c.473G>T, NM_001322832.1:c.473G>T, NM_001161352.2:c.473G>T, NM_001161352.1:c.473G>T, NM_001161353.2:c.473G>T, NM_001161353.1:c.473G>T, NM_001322837.2:c.473G>T, NM_001322837.1:c.473G>T, NM_001271519.2:c.473G>T, NM_001271519.1:c.473G>T, NM_001322836.2:c.473G>T, NM_001322836.1:c.473G>T, NM_001410940.1:c.473G>T, XM_005269776.5:c.473G>T, XM_005269776.4:c.473G>T, XM_005269776.3:c.473G>T, XM_005269776.2:c.473G>T, XM_005269776.1:c.473G>T, XM_005269787.5:c.473G>T, XM_005269787.4:c.473G>T, XM_005269787.3:c.473G>T, XM_005269787.2:c.473G>T, XM_005269787.1:c.473G>T, XM_011539781.4:c.605G>T, XM_011539781.3:c.605G>T, XM_011539781.2:c.605G>T, XM_011539781.1:c.605G>T, XM_017016207.3:c.605G>T, XM_017016207.2:c.605G>T, XM_017016207.1:c.605G>T, XM_017016208.3:c.605G>T, XM_017016208.2:c.605G>T, XM_017016208.1:c.605G>T, XM_011539773.3:c.605G>T, XM_011539773.2:c.605G>T, XM_011539773.1:c.605G>T, XM_017016210.3:c.605G>T, XM_017016210.2:c.605G>T, XM_017016210.1:c.605G>T, XM_011539775.3:c.605G>T, XM_011539775.2:c.605G>T, XM_011539775.1:c.605G>T, XM_017016211.3:c.605G>T, XM_017016211.2:c.605G>T, XM_017016211.1:c.605G>T, XM_017016213.3:c.605G>T, XM_017016213.2:c.605G>T, XM_017016213.1:c.605G>T, XM_011539780.3:c.473G>T, XM_011539780.2:c.473G>T, XM_011539780.1:c.473G>T, XM_005269778.3:c.473G>T, XM_005269778.2:c.473G>T, XM_005269778.1:c.473G>T, XM_005269781.3:c.473G>T, XM_005269781.2:c.473G>T, XM_005269781.1:c.473G>T, XM_005269789.3:c.473G>T, XM_005269789.2:c.473G>T, XM_005269789.1:c.473G>T, XM_011539785.3:c.473G>T, XM_011539785.2:c.473G>T, XM_011539785.1:c.473G>T, XM_005269792.3:c.473G>T, XM_005269792.2:c.473G>T, XM_005269792.1:c.473G>T, XM_005269796.3:c.473G>T, XM_017016222.3:c.473G>T, XM_017016222.2:c.473G>T, XM_017016222.1:c.473G>T, XM_017016219.3:c.605G>T, XM_017016219.2:c.605G>T, XM_017016219.1:c.605G>T, XM_017016209.3:c.605G>T, XM_017016209.2:c.605G>T, XM_017016209.1:c.605G>T, XM_011539774.3:c.605G>T, XM_011539774.2:c.605G>T, XM_011539774.1:c.605G>T, XM_011539777.3:c.473G>T, XM_011539777.2:c.473G>T, XM_011539777.1:c.473G>T, XM_011539778.3:c.473G>T, XM_011539778.2:c.473G>T, XM_011539778.1:c.473G>T, XM_017016214.3:c.605G>T, XM_017016214.2:c.605G>T, XM_017016214.1:c.605G>T, XM_011539782.3:c.605G>T, XM_011539782.2:c.605G>T, XM_011539782.1:c.605G>T, XM_011539783.3:c.473G>T, XM_011539783.2:c.473G>T, XM_011539783.1:c.473G>T, XM_006717826.3:c.473G>T, XM_006717826.2:c.473G>T, XM_006717826.1:c.473G>T, XM_011539784.3:c.605G>T, XM_011539784.2:c.605G>T, XM_011539784.1:c.605G>T, XM_024447986.2:c.-2G>T, XM_024447986.1:c.-2G>T, XM_024447987.2:c.473G>T, XM_024447987.1:c.473G>T, XM_024447984.2:c.473G>T, XM_024447984.1:c.473G>T, XM_017016217.2:c.605G>T, XM_017016217.1:c.605G>T, XM_024447989.2:c.473G>T, XM_024447989.1:c.473G>T, XM_024447988.2:c.473G>T, XM_024447988.1:c.473G>T, XM_024447990.2:c.473G>T, XM_024447990.1:c.473G>T, XM_024447985.2:c.473G>T, XM_024447985.1:c.473G>T, XM_047425196.1:c.605G>T, XM_047425199.1:c.473G>T, XM_047425195.1:c.605G>T, XM_047425197.1:c.473G>T, XM_047425201.1:c.473G>T, XR_007061964.1:n.639G>T, NP_002238.2:p.Trp158Leu, NP_001014797.1:p.Trp158Leu, NP_001309759.1:p.Trp158Leu, NP_001309764.1:p.Trp158Leu, NP_001309758.1:p.Trp158Leu, NP_001309761.1:p.Trp158Leu, NP_001154824.1:p.Trp158Leu, NP_001154825.1:p.Trp158Leu, NP_001309766.1:p.Trp158Leu, NP_001258448.1:p.Trp158Leu, NP_001309765.1:p.Trp158Leu, XP_005269833.1:p.Trp158Leu, XP_005269844.1:p.Trp158Leu, XP_011538083.1:p.Trp202Leu, XP_016871696.1:p.Trp202Leu, XP_016871697.1:p.Trp202Leu, XP_011538075.1:p.Trp202Leu, XP_016871699.1:p.Trp202Leu, XP_011538077.1:p.Trp202Leu, XP_016871700.1:p.Trp202Leu, XP_016871702.1:p.Trp202Leu, XP_011538082.1:p.Trp158Leu, XP_005269835.1:p.Trp158Leu, XP_005269838.1:p.Trp158Leu, XP_005269846.1:p.Trp158Leu, XP_011538087.1:p.Trp158Leu, XP_005269849.1:p.Trp158Leu, XP_005269853.1:p.Trp158Leu, XP_016871711.2:p.Trp158Leu, XP_016871708.1:p.Trp202Leu, XP_016871698.1:p.Trp202Leu, XP_011538076.1:p.Trp202Leu, XP_011538079.1:p.Trp158Leu, XP_011538080.1:p.Trp158Leu, XP_016871703.1:p.Trp202Leu, XP_011538084.1:p.Trp202Leu, XP_011538085.1:p.Trp158Leu, XP_006717889.1:p.Trp158Leu, XP_011538086.1:p.Trp202Leu, XP_024303755.1:p.Trp158Leu, XP_024303752.1:p.Trp158Leu, XP_016871706.1:p.Trp202Leu, XP_024303757.1:p.Trp158Leu, XP_024303756.1:p.Trp158Leu, XP_024303758.1:p.Trp158Leu, XP_024303753.1:p.Trp158Leu, XP_047281152.1:p.Trp202Leu, XP_047281155.1:p.Trp158Leu, XP_047281151.1:p.Trp202Leu, XP_047281153.1:p.Trp158Leu, XP_047281157.1:p.Trp158Leu

            6.

            rs1486148649 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:77039553 (GRCh38)
              10:78799311 (GRCh37)
              Canonical SPDI:
              NC_000010.11:77039552:C:T
              Gene:
              KCNMA1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.77039553C>T, NC_000010.10:g.78799311C>T, NG_012270.1:g.603267G>A, NM_002247.4:c.1834G>A, NM_002247.3:c.1834G>A, NM_001014797.3:c.1834G>A, NM_001014797.2:c.1834G>A, NM_001322830.2:c.1834G>A, NM_001322830.1:c.1834G>A, NM_001322835.2:c.1834G>A, NM_001322835.1:c.1834G>A, NM_001322838.2:c.1294G>A, NM_001322838.1:c.1294G>A, NM_001322829.2:c.1834G>A, NM_001322829.1:c.1834G>A, NM_001322832.2:c.1834G>A, NM_001322832.1:c.1834G>A, NM_001271518.2:c.1672G>A, NM_001271518.1:c.1672G>A, NM_001161352.2:c.1834G>A, NM_001161352.1:c.1834G>A, NM_001161353.2:c.1834G>A, NM_001161353.1:c.1834G>A, NM_001322837.2:c.1834G>A, NM_001322837.1:c.1834G>A, NM_001271519.2:c.1834G>A, NM_001271519.1:c.1834G>A, NM_001322836.2:c.1834G>A, NM_001322836.1:c.1834G>A, NM_001410940.1:c.1834G>A, XM_005269776.5:c.1834G>A, XM_005269776.4:c.1834G>A, XM_005269776.3:c.1834G>A, XM_005269776.2:c.1834G>A, XM_005269776.1:c.1834G>A, XM_005269787.5:c.1834G>A, XM_005269787.4:c.1834G>A, XM_005269787.3:c.1834G>A, XM_005269787.2:c.1834G>A, XM_005269787.1:c.1834G>A, XM_011539781.4:c.1966G>A, XM_011539781.3:c.1966G>A, XM_011539781.2:c.1966G>A, XM_011539781.1:c.1966G>A, XM_017016207.3:c.1966G>A, XM_017016207.2:c.1966G>A, XM_017016207.1:c.1966G>A, XM_017016208.3:c.1966G>A, XM_017016208.2:c.1966G>A, XM_017016208.1:c.1966G>A, XM_011539773.3:c.1966G>A, XM_011539773.2:c.1966G>A, XM_011539773.1:c.1966G>A, XM_017016210.3:c.1966G>A, XM_017016210.2:c.1966G>A, XM_017016210.1:c.1966G>A, XM_011539775.3:c.1966G>A, XM_011539775.2:c.1966G>A, XM_011539775.1:c.1966G>A, XM_017016211.3:c.1966G>A, XM_017016211.2:c.1966G>A, XM_017016211.1:c.1966G>A, XM_017016213.3:c.1966G>A, XM_017016213.2:c.1966G>A, XM_017016213.1:c.1966G>A, XM_011539780.3:c.1834G>A, XM_011539780.2:c.1834G>A, XM_011539780.1:c.1834G>A, XM_005269778.3:c.1834G>A, XM_005269778.2:c.1834G>A, XM_005269778.1:c.1834G>A, XM_005269781.3:c.1834G>A, XM_005269781.2:c.1834G>A, XM_005269781.1:c.1834G>A, XM_005269789.3:c.1834G>A, XM_005269789.2:c.1834G>A, XM_005269789.1:c.1834G>A, XM_011539785.3:c.1834G>A, XM_011539785.2:c.1834G>A, XM_011539785.1:c.1834G>A, XM_005269792.3:c.1834G>A, XM_005269792.2:c.1834G>A, XM_005269792.1:c.1834G>A, XM_005269796.3:c.1834G>A, XM_017016222.3:c.1834G>A, XM_017016222.2:c.1834G>A, XM_017016222.1:c.1834G>A, XM_017016219.3:c.1966G>A, XM_017016219.2:c.1966G>A, XM_017016219.1:c.1966G>A, XM_017016209.3:c.1966G>A, XM_017016209.2:c.1966G>A, XM_017016209.1:c.1966G>A, XM_011539774.3:c.1966G>A, XM_011539774.2:c.1966G>A, XM_011539774.1:c.1966G>A, XM_011539777.3:c.1834G>A, XM_011539777.2:c.1834G>A, XM_011539777.1:c.1834G>A, XM_011539778.3:c.1834G>A, XM_011539778.2:c.1834G>A, XM_011539778.1:c.1834G>A, XM_017016214.3:c.1966G>A, XM_017016214.2:c.1966G>A, XM_017016214.1:c.1966G>A, XM_011539782.3:c.1966G>A, XM_011539782.2:c.1966G>A, XM_011539782.1:c.1966G>A, XM_011539783.3:c.1834G>A, XM_011539783.2:c.1834G>A, XM_011539783.1:c.1834G>A, XM_006717826.3:c.1834G>A, XM_006717826.2:c.1834G>A, XM_006717826.1:c.1834G>A, XM_011539784.3:c.1966G>A, XM_011539784.2:c.1966G>A, XM_011539784.1:c.1966G>A, XM_024447986.2:c.1360G>A, XM_024447986.1:c.1360G>A, XM_024447987.2:c.1834G>A, XM_024447987.1:c.1834G>A, XM_024447984.2:c.1834G>A, XM_024447984.1:c.1834G>A, XM_017016217.2:c.1966G>A, XM_017016217.1:c.1966G>A, XM_024447989.2:c.1834G>A, XM_024447989.1:c.1834G>A, XM_024447988.2:c.1834G>A, XM_024447988.1:c.1834G>A, XM_024447990.2:c.1834G>A, XM_024447990.1:c.1834G>A, XM_024447985.2:c.1834G>A, XM_024447985.1:c.1834G>A, XM_047425196.1:c.1966G>A, XM_047425199.1:c.1834G>A, XM_017016223.1:c.1294G>A, XM_047425195.1:c.1966G>A, XM_047425197.1:c.1834G>A, XM_047425200.1:c.1333G>A, XM_047425201.1:c.1834G>A, NP_002238.2:p.Gly612Ser, NP_001014797.1:p.Gly612Ser, NP_001309759.1:p.Gly612Ser, NP_001309764.1:p.Gly612Ser, NP_001309767.1:p.Gly432Ser, NP_001309758.1:p.Gly612Ser, NP_001309761.1:p.Gly612Ser, NP_001258447.1:p.Gly558Ser, NP_001154824.1:p.Gly612Ser, NP_001154825.1:p.Gly612Ser, NP_001309766.1:p.Gly612Ser, NP_001258448.1:p.Gly612Ser, NP_001309765.1:p.Gly612Ser, XP_005269833.1:p.Gly612Ser, XP_005269844.1:p.Gly612Ser, XP_011538083.1:p.Gly656Ser, XP_016871696.1:p.Gly656Ser, XP_016871697.1:p.Gly656Ser, XP_011538075.1:p.Gly656Ser, XP_016871699.1:p.Gly656Ser, XP_011538077.1:p.Gly656Ser, XP_016871700.1:p.Gly656Ser, XP_016871702.1:p.Gly656Ser, XP_011538082.1:p.Gly612Ser, XP_005269835.1:p.Gly612Ser, XP_005269838.1:p.Gly612Ser, XP_005269846.1:p.Gly612Ser, XP_011538087.1:p.Gly612Ser, XP_005269849.1:p.Gly612Ser, XP_005269853.1:p.Gly612Ser, XP_016871711.2:p.Gly612Ser, XP_016871708.1:p.Gly656Ser, XP_016871698.1:p.Gly656Ser, XP_011538076.1:p.Gly656Ser, XP_011538079.1:p.Gly612Ser, XP_011538080.1:p.Gly612Ser, XP_016871703.1:p.Gly656Ser, XP_011538084.1:p.Gly656Ser, XP_011538085.1:p.Gly612Ser, XP_006717889.1:p.Gly612Ser, XP_011538086.1:p.Gly656Ser, XP_024303754.1:p.Gly454Ser, XP_024303755.1:p.Gly612Ser, XP_024303752.1:p.Gly612Ser, XP_016871706.1:p.Gly656Ser, XP_024303757.1:p.Gly612Ser, XP_024303756.1:p.Gly612Ser, XP_024303758.1:p.Gly612Ser, XP_024303753.1:p.Gly612Ser, XP_047281152.1:p.Gly656Ser, XP_047281155.1:p.Gly612Ser, XP_016871712.1:p.Gly432Ser, XP_047281151.1:p.Gly656Ser, XP_047281153.1:p.Gly612Ser, XP_047281156.1:p.Gly445Ser, XP_047281157.1:p.Gly612Ser

              7.

              rs1485176204 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                10:77637571 (GRCh38)
                10:79397329 (GRCh37)
                Canonical SPDI:
                NC_000010.11:77637570:T:C,NC_000010.11:77637570:T:G
                Gene:
                KCNMA1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                G=0.000563/1 (Korea1K)
                HGVS:
                NC_000010.11:g.77637571T>C, NC_000010.11:g.77637571T>G, NC_000010.10:g.79397329T>C, NC_000010.10:g.79397329T>G, NG_012270.1:g.5249A>G, NG_012270.1:g.5249A>C, NM_002247.4:c.72A>G, NM_002247.4:c.72A>C, NM_002247.3:c.72A>G, NM_002247.3:c.72A>C, NM_001014797.3:c.72A>G, NM_001014797.3:c.72A>C, NM_001014797.2:c.72A>G, NM_001014797.2:c.72A>C, NM_001322830.2:c.72A>G, NM_001322830.2:c.72A>C, NM_001322830.1:c.72A>G, NM_001322830.1:c.72A>C, NM_001322835.2:c.72A>G, NM_001322835.2:c.72A>C, NM_001322835.1:c.72A>G, NM_001322835.1:c.72A>C, NM_001322829.2:c.72A>G, NM_001322829.2:c.72A>C, NM_001322829.1:c.72A>G, NM_001322829.1:c.72A>C, NM_001322832.2:c.72A>G, NM_001322832.2:c.72A>C, NM_001322832.1:c.72A>G, NM_001322832.1:c.72A>C, NM_001271518.2:c.72A>G, NM_001271518.2:c.72A>C, NM_001271518.1:c.72A>G, NM_001271518.1:c.72A>C, NM_001161352.2:c.72A>G, NM_001161352.2:c.72A>C, NM_001161352.1:c.72A>G, NM_001161352.1:c.72A>C, NM_001161353.2:c.72A>G, NM_001161353.2:c.72A>C, NM_001161353.1:c.72A>G, NM_001161353.1:c.72A>C, NM_001322837.2:c.72A>G, NM_001322837.2:c.72A>C, NM_001322837.1:c.72A>G, NM_001322837.1:c.72A>C, NM_001271519.2:c.72A>G, NM_001271519.2:c.72A>C, NM_001271519.1:c.72A>G, NM_001271519.1:c.72A>C, NM_001322836.2:c.72A>G, NM_001322836.2:c.72A>C, NM_001322836.1:c.72A>G, NM_001322836.1:c.72A>C, NM_001271522.2:c.72A>G, NM_001271522.2:c.72A>C, NM_001271522.1:c.72A>G, NM_001271522.1:c.72A>C, NM_001271520.2:c.72A>G, NM_001271520.2:c.72A>C, NM_001271520.1:c.72A>G, NM_001271520.1:c.72A>C, NM_001322839.2:c.72A>G, NM_001322839.2:c.72A>C, NM_001322839.1:c.72A>G, NM_001322839.1:c.72A>C, NM_001271521.2:c.72A>G, NM_001271521.2:c.72A>C, NM_001271521.1:c.72A>G, NM_001271521.1:c.72A>C, NM_001410940.1:c.72A>G, NM_001410940.1:c.72A>C, XM_005269776.5:c.72A>G, XM_005269776.5:c.72A>C, XM_005269776.4:c.72A>G, XM_005269776.4:c.72A>C, XM_005269776.3:c.72A>G, XM_005269776.3:c.72A>C, XM_005269776.2:c.72A>G, XM_005269776.2:c.72A>C, XM_005269776.1:c.72A>G, XM_005269776.1:c.72A>C, XM_005269787.5:c.72A>G, XM_005269787.5:c.72A>C, XM_005269787.4:c.72A>G, XM_005269787.4:c.72A>C, XM_005269787.3:c.72A>G, XM_005269787.3:c.72A>C, XM_005269787.2:c.72A>G, XM_005269787.2:c.72A>C, XM_005269787.1:c.72A>G, XM_005269787.1:c.72A>C, XM_011539781.4:c.72A>G, XM_011539781.4:c.72A>C, XM_011539781.3:c.72A>G, XM_011539781.3:c.72A>C, XM_011539781.2:c.72A>G, XM_011539781.2:c.72A>C, XM_011539781.1:c.72A>G, XM_011539781.1:c.72A>C, XM_017016207.3:c.72A>G, XM_017016207.3:c.72A>C, XM_017016207.2:c.72A>G, XM_017016207.2:c.72A>C, XM_017016207.1:c.72A>G, XM_017016207.1:c.72A>C, XM_017016208.3:c.72A>G, XM_017016208.3:c.72A>C, XM_017016208.2:c.72A>G, XM_017016208.2:c.72A>C, XM_017016208.1:c.72A>G, XM_017016208.1:c.72A>C, XM_011539773.3:c.72A>G, XM_011539773.3:c.72A>C, XM_011539773.2:c.72A>G, XM_011539773.2:c.72A>C, XM_011539773.1:c.72A>G, XM_011539773.1:c.72A>C, XM_017016210.3:c.72A>G, XM_017016210.3:c.72A>C, XM_017016210.2:c.72A>G, XM_017016210.2:c.72A>C, XM_017016210.1:c.72A>G, XM_017016210.1:c.72A>C, XM_011539775.3:c.72A>G, XM_011539775.3:c.72A>C, XM_011539775.2:c.72A>G, XM_011539775.2:c.72A>C, XM_011539775.1:c.72A>G, XM_011539775.1:c.72A>C, XM_017016211.3:c.72A>G, XM_017016211.3:c.72A>C, XM_017016211.2:c.72A>G, XM_017016211.2:c.72A>C, XM_017016211.1:c.72A>G, XM_017016211.1:c.72A>C, XM_017016213.3:c.72A>G, XM_017016213.3:c.72A>C, XM_017016213.2:c.72A>G, XM_017016213.2:c.72A>C, XM_017016213.1:c.72A>G, XM_017016213.1:c.72A>C, XM_011539780.3:c.72A>G, XM_011539780.3:c.72A>C, XM_011539780.2:c.72A>G, XM_011539780.2:c.72A>C, XM_011539780.1:c.72A>G, XM_011539780.1:c.72A>C, XM_005269778.3:c.72A>G, XM_005269778.3:c.72A>C, XM_005269778.2:c.72A>G, XM_005269778.2:c.72A>C, XM_005269778.1:c.72A>G, XM_005269778.1:c.72A>C, XM_005269781.3:c.72A>G, XM_005269781.3:c.72A>C, XM_005269781.2:c.72A>G, XM_005269781.2:c.72A>C, XM_005269781.1:c.72A>G, XM_005269781.1:c.72A>C, XM_005269789.3:c.72A>G, XM_005269789.3:c.72A>C, XM_005269789.2:c.72A>G, XM_005269789.2:c.72A>C, XM_005269789.1:c.72A>G, XM_005269789.1:c.72A>C, XM_011539785.3:c.72A>G, XM_011539785.3:c.72A>C, XM_011539785.2:c.72A>G, XM_011539785.2:c.72A>C, XM_011539785.1:c.72A>G, XM_011539785.1:c.72A>C, XM_005269792.3:c.72A>G, XM_005269792.3:c.72A>C, XM_005269792.2:c.72A>G, XM_005269792.2:c.72A>C, XM_005269792.1:c.72A>G, XM_005269792.1:c.72A>C, XM_005269796.3:c.72A>G, XM_005269796.3:c.72A>C, XM_017016222.3:c.72A>G, XM_017016222.3:c.72A>C, XM_017016222.2:c.72A>G, XM_017016222.2:c.72A>C, XM_017016222.1:c.72A>G, XM_017016222.1:c.72A>C, XM_017016219.3:c.72A>G, XM_017016219.3:c.72A>C, XM_017016219.2:c.72A>G, XM_017016219.2:c.72A>C, XM_017016219.1:c.72A>G, XM_017016219.1:c.72A>C, XM_017016209.3:c.72A>G, XM_017016209.3:c.72A>C, XM_017016209.2:c.72A>G, XM_017016209.2:c.72A>C, XM_017016209.1:c.72A>G, XM_017016209.1:c.72A>C, XM_011539774.3:c.72A>G, XM_011539774.3:c.72A>C, XM_011539774.2:c.72A>G, XM_011539774.2:c.72A>C, XM_011539774.1:c.72A>G, XM_011539774.1:c.72A>C, XM_011539777.3:c.72A>G, XM_011539777.3:c.72A>C, XM_011539777.2:c.72A>G, XM_011539777.2:c.72A>C, XM_011539777.1:c.72A>G, XM_011539777.1:c.72A>C, XM_011539778.3:c.72A>G, XM_011539778.3:c.72A>C, XM_011539778.2:c.72A>G, XM_011539778.2:c.72A>C, XM_011539778.1:c.72A>G, XM_011539778.1:c.72A>C, XM_017016214.3:c.72A>G, XM_017016214.3:c.72A>C, XM_017016214.2:c.72A>G, XM_017016214.2:c.72A>C, XM_017016214.1:c.72A>G, XM_017016214.1:c.72A>C, XM_011539782.3:c.72A>G, XM_011539782.3:c.72A>C, XM_011539782.2:c.72A>G, XM_011539782.2:c.72A>C, XM_011539782.1:c.72A>G, XM_011539782.1:c.72A>C, XM_011539783.3:c.72A>G, XM_011539783.3:c.72A>C, XM_011539783.2:c.72A>G, XM_011539783.2:c.72A>C, XM_011539783.1:c.72A>G, XM_011539783.1:c.72A>C, XM_006717826.3:c.72A>G, XM_006717826.3:c.72A>C, XM_006717826.2:c.72A>G, XM_006717826.2:c.72A>C, XM_006717826.1:c.72A>G, XM_006717826.1:c.72A>C, XM_011539784.3:c.72A>G, XM_011539784.3:c.72A>C, XM_011539784.2:c.72A>G, XM_011539784.2:c.72A>C, XM_011539784.1:c.72A>G, XM_011539784.1:c.72A>C, XM_024447987.2:c.72A>G, XM_024447987.2:c.72A>C, XM_024447987.1:c.72A>G, XM_024447987.1:c.72A>C, XM_024447984.2:c.72A>G, XM_024447984.2:c.72A>C, XM_024447984.1:c.72A>G, XM_024447984.1:c.72A>C, XM_017016217.2:c.72A>G, XM_017016217.2:c.72A>C, XM_017016217.1:c.72A>G, XM_017016217.1:c.72A>C, XM_024447989.2:c.72A>G, XM_024447989.2:c.72A>C, XM_024447989.1:c.72A>G, XM_024447989.1:c.72A>C, XM_024447988.2:c.72A>G, XM_024447988.2:c.72A>C, XM_024447988.1:c.72A>G, XM_024447988.1:c.72A>C, XM_024447990.2:c.72A>G, XM_024447990.2:c.72A>C, XM_024447990.1:c.72A>G, XM_024447990.1:c.72A>C, XM_024447985.2:c.72A>G, XM_024447985.2:c.72A>C, XM_024447985.1:c.72A>G, XM_024447985.1:c.72A>C, XM_047425196.1:c.72A>G, XM_047425196.1:c.72A>C, XM_047425199.1:c.72A>G, XM_047425199.1:c.72A>C, XM_047425195.1:c.72A>G, XM_047425195.1:c.72A>C, XM_047425197.1:c.72A>G, XM_047425197.1:c.72A>C, XM_047425201.1:c.72A>G, XM_047425201.1:c.72A>C, XR_007061964.1:n.238A>G, XR_007061964.1:n.238A>C, NP_002238.2:p.Arg24Ser, NP_001014797.1:p.Arg24Ser, NP_001309759.1:p.Arg24Ser, NP_001309764.1:p.Arg24Ser, NP_001309758.1:p.Arg24Ser, NP_001309761.1:p.Arg24Ser, NP_001258447.1:p.Arg24Ser, NP_001154824.1:p.Arg24Ser, NP_001154825.1:p.Arg24Ser, NP_001309766.1:p.Arg24Ser, NP_001258448.1:p.Arg24Ser, NP_001309765.1:p.Arg24Ser, NP_001258451.1:p.Arg24Ser, NP_001258449.1:p.Arg24Ser, NP_001309768.1:p.Arg24Ser, NP_001258450.1:p.Arg24Ser, XP_005269833.1:p.Arg24Ser, XP_005269844.1:p.Arg24Ser, XP_011538083.1:p.Arg24Ser, XP_016871696.1:p.Arg24Ser, XP_016871697.1:p.Arg24Ser, XP_011538075.1:p.Arg24Ser, XP_016871699.1:p.Arg24Ser, XP_011538077.1:p.Arg24Ser, XP_016871700.1:p.Arg24Ser, XP_016871702.1:p.Arg24Ser, XP_011538082.1:p.Arg24Ser, XP_005269835.1:p.Arg24Ser, XP_005269838.1:p.Arg24Ser, XP_005269846.1:p.Arg24Ser, XP_011538087.1:p.Arg24Ser, XP_005269849.1:p.Arg24Ser, XP_005269853.1:p.Arg24Ser, XP_016871711.2:p.Arg24Ser, XP_016871708.1:p.Arg24Ser, XP_016871698.1:p.Arg24Ser, XP_011538076.1:p.Arg24Ser, XP_011538079.1:p.Arg24Ser, XP_011538080.1:p.Arg24Ser, XP_016871703.1:p.Arg24Ser, XP_011538084.1:p.Arg24Ser, XP_011538085.1:p.Arg24Ser, XP_006717889.1:p.Arg24Ser, XP_011538086.1:p.Arg24Ser, XP_024303755.1:p.Arg24Ser, XP_024303752.1:p.Arg24Ser, XP_016871706.1:p.Arg24Ser, XP_024303757.1:p.Arg24Ser, XP_024303756.1:p.Arg24Ser, XP_024303758.1:p.Arg24Ser, XP_024303753.1:p.Arg24Ser, XP_047281152.1:p.Arg24Ser, XP_047281155.1:p.Arg24Ser, XP_047281151.1:p.Arg24Ser, XP_047281153.1:p.Arg24Ser, XP_047281157.1:p.Arg24Ser

                8.

                rs1484259264 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TGCTGCCGCCGCCGCCGCCGC>-,TGCTGCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGC [Show Flanks]
                  Chromosome:
                  10:77637609 (GRCh38)
                  10:79397367 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:77637591:GCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGC,NC_000010.11:77637591:GCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGC
                  Gene:
                  KCNMA1 (Varview)
                  Functional Consequence:
                  inframe_insertion,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
                  Clinical significance:
                  conflicting-interpretations-of-pathogenicity,uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GCCGCCGCCGCCGCCGC=0.000169/2 (ALFA)
                  -=0.000161/20 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.77637609_77637629del, NC_000010.11:g.77637609_77637629dup, NC_000010.10:g.79397367_79397387del, NC_000010.10:g.79397367_79397387dup, NG_012270.1:g.5208_5228del, NG_012270.1:g.5208_5228dup, NM_002247.4:c.31_51del, NM_002247.4:c.31_51dup, NM_002247.3:c.31_51del, NM_002247.3:c.31_51dup, NM_001014797.3:c.31_51del, NM_001014797.3:c.31_51dup, NM_001014797.2:c.31_51del, NM_001014797.2:c.31_51dup, NM_001322830.2:c.31_51del, NM_001322830.2:c.31_51dup, NM_001322830.1:c.31_51del, NM_001322830.1:c.31_51dup, NM_001322835.2:c.31_51del, NM_001322835.2:c.31_51dup, NM_001322835.1:c.31_51del, NM_001322835.1:c.31_51dup, NM_001322829.2:c.31_51del, NM_001322829.2:c.31_51dup, NM_001322829.1:c.31_51del, NM_001322829.1:c.31_51dup, NM_001322832.2:c.31_51del, NM_001322832.2:c.31_51dup, NM_001322832.1:c.31_51del, NM_001322832.1:c.31_51dup, NM_001271518.2:c.31_51del, NM_001271518.2:c.31_51dup, NM_001271518.1:c.31_51del, NM_001271518.1:c.31_51dup, NM_001161352.2:c.31_51del, NM_001161352.2:c.31_51dup, NM_001161352.1:c.31_51del, NM_001161352.1:c.31_51dup, NM_001161353.2:c.31_51del, NM_001161353.2:c.31_51dup, NM_001161353.1:c.31_51del, NM_001161353.1:c.31_51dup, NM_001322837.2:c.31_51del, NM_001322837.2:c.31_51dup, NM_001322837.1:c.31_51del, NM_001322837.1:c.31_51dup, NM_001271519.2:c.31_51del, NM_001271519.2:c.31_51dup, NM_001271519.1:c.31_51del, NM_001271519.1:c.31_51dup, NM_001322836.2:c.31_51del, NM_001322836.2:c.31_51dup, NM_001322836.1:c.31_51del, NM_001322836.1:c.31_51dup, NM_001271522.2:c.31_51del, NM_001271522.2:c.31_51dup, NM_001271522.1:c.31_51del, NM_001271522.1:c.31_51dup, NM_001271520.2:c.31_51del, NM_001271520.2:c.31_51dup, NM_001271520.1:c.31_51del, NM_001271520.1:c.31_51dup, NM_001322839.2:c.31_51del, NM_001322839.2:c.31_51dup, NM_001322839.1:c.31_51del, NM_001322839.1:c.31_51dup, NM_001271521.2:c.31_51del, NM_001271521.2:c.31_51dup, NM_001271521.1:c.31_51del, NM_001271521.1:c.31_51dup, NM_001410940.1:c.31_51del, NM_001410940.1:c.31_51dup, XM_005269776.5:c.31_51del, XM_005269776.5:c.31_51dup, XM_005269776.4:c.31_51del, XM_005269776.4:c.31_51dup, XM_005269776.3:c.31_51del, XM_005269776.3:c.31_51dup, XM_005269776.2:c.31_51del, XM_005269776.2:c.31_51dup, XM_005269776.1:c.31_51del, XM_005269776.1:c.31_51dup, XM_005269787.5:c.31_51del, XM_005269787.5:c.31_51dup, XM_005269787.4:c.31_51del, XM_005269787.4:c.31_51dup, XM_005269787.3:c.31_51del, XM_005269787.3:c.31_51dup, XM_005269787.2:c.31_51del, XM_005269787.2:c.31_51dup, XM_005269787.1:c.31_51del, XM_005269787.1:c.31_51dup, XM_011539781.4:c.31_51del, XM_011539781.4:c.31_51dup, XM_011539781.3:c.31_51del, XM_011539781.3:c.31_51dup, XM_011539781.2:c.31_51del, XM_011539781.2:c.31_51dup, XM_011539781.1:c.31_51del, XM_011539781.1:c.31_51dup, XM_017016207.3:c.31_51del, XM_017016207.3:c.31_51dup, XM_017016207.2:c.31_51del, XM_017016207.2:c.31_51dup, XM_017016207.1:c.31_51del, XM_017016207.1:c.31_51dup, XM_017016208.3:c.31_51del, XM_017016208.3:c.31_51dup, XM_017016208.2:c.31_51del, XM_017016208.2:c.31_51dup, XM_017016208.1:c.31_51del, XM_017016208.1:c.31_51dup, XM_011539773.3:c.31_51del, XM_011539773.3:c.31_51dup, XM_011539773.2:c.31_51del, XM_011539773.2:c.31_51dup, XM_011539773.1:c.31_51del, XM_011539773.1:c.31_51dup, XM_017016210.3:c.31_51del, XM_017016210.3:c.31_51dup, XM_017016210.2:c.31_51del, XM_017016210.2:c.31_51dup, XM_017016210.1:c.31_51del, XM_017016210.1:c.31_51dup, XM_011539775.3:c.31_51del, XM_011539775.3:c.31_51dup, XM_011539775.2:c.31_51del, XM_011539775.2:c.31_51dup, XM_011539775.1:c.31_51del, XM_011539775.1:c.31_51dup, XM_017016211.3:c.31_51del, XM_017016211.3:c.31_51dup, XM_017016211.2:c.31_51del, XM_017016211.2:c.31_51dup, XM_017016211.1:c.31_51del, XM_017016211.1:c.31_51dup, XM_017016213.3:c.31_51del, XM_017016213.3:c.31_51dup, XM_017016213.2:c.31_51del, XM_017016213.2:c.31_51dup, XM_017016213.1:c.31_51del, XM_017016213.1:c.31_51dup, XM_011539780.3:c.31_51del, XM_011539780.3:c.31_51dup, XM_011539780.2:c.31_51del, XM_011539780.2:c.31_51dup, XM_011539780.1:c.31_51del, XM_011539780.1:c.31_51dup, XM_005269778.3:c.31_51del, XM_005269778.3:c.31_51dup, XM_005269778.2:c.31_51del, XM_005269778.2:c.31_51dup, XM_005269778.1:c.31_51del, XM_005269778.1:c.31_51dup, XM_005269781.3:c.31_51del, XM_005269781.3:c.31_51dup, XM_005269781.2:c.31_51del, XM_005269781.2:c.31_51dup, XM_005269781.1:c.31_51del, XM_005269781.1:c.31_51dup, XM_005269789.3:c.31_51del, XM_005269789.3:c.31_51dup, XM_005269789.2:c.31_51del, XM_005269789.2:c.31_51dup, XM_005269789.1:c.31_51del, XM_005269789.1:c.31_51dup, XM_011539785.3:c.31_51del, XM_011539785.3:c.31_51dup, XM_011539785.2:c.31_51del, XM_011539785.2:c.31_51dup, XM_011539785.1:c.31_51del, XM_011539785.1:c.31_51dup, XM_005269792.3:c.31_51del, XM_005269792.3:c.31_51dup, XM_005269792.2:c.31_51del, XM_005269792.2:c.31_51dup, XM_005269792.1:c.31_51del, XM_005269792.1:c.31_51dup, XM_005269796.3:c.31_51del, XM_005269796.3:c.31_51dup, XM_017016222.3:c.31_51del, XM_017016222.3:c.31_51dup, XM_017016222.2:c.31_51del, XM_017016222.2:c.31_51dup, XM_017016222.1:c.31_51del, XM_017016222.1:c.31_51dup, XM_017016219.3:c.31_51del, XM_017016219.3:c.31_51dup, XM_017016219.2:c.31_51del, XM_017016219.2:c.31_51dup, XM_017016219.1:c.31_51del, XM_017016219.1:c.31_51dup, XM_017016209.3:c.31_51del, XM_017016209.3:c.31_51dup, XM_017016209.2:c.31_51del, XM_017016209.2:c.31_51dup, XM_017016209.1:c.31_51del, XM_017016209.1:c.31_51dup, XM_011539774.3:c.31_51del, XM_011539774.3:c.31_51dup, XM_011539774.2:c.31_51del, XM_011539774.2:c.31_51dup, XM_011539774.1:c.31_51del, XM_011539774.1:c.31_51dup, XM_011539777.3:c.31_51del, XM_011539777.3:c.31_51dup, XM_011539777.2:c.31_51del, XM_011539777.2:c.31_51dup, XM_011539777.1:c.31_51del, XM_011539777.1:c.31_51dup, XM_011539778.3:c.31_51del, XM_011539778.3:c.31_51dup, XM_011539778.2:c.31_51del, XM_011539778.2:c.31_51dup, XM_011539778.1:c.31_51del, XM_011539778.1:c.31_51dup, XM_017016214.3:c.31_51del, XM_017016214.3:c.31_51dup, XM_017016214.2:c.31_51del, XM_017016214.2:c.31_51dup, XM_017016214.1:c.31_51del, XM_017016214.1:c.31_51dup, XM_011539782.3:c.31_51del, XM_011539782.3:c.31_51dup, XM_011539782.2:c.31_51del, XM_011539782.2:c.31_51dup, XM_011539782.1:c.31_51del, XM_011539782.1:c.31_51dup, XM_011539783.3:c.31_51del, XM_011539783.3:c.31_51dup, XM_011539783.2:c.31_51del, XM_011539783.2:c.31_51dup, XM_011539783.1:c.31_51del, XM_011539783.1:c.31_51dup, XM_006717826.3:c.31_51del, XM_006717826.3:c.31_51dup, XM_006717826.2:c.31_51del, XM_006717826.2:c.31_51dup, XM_006717826.1:c.31_51del, XM_006717826.1:c.31_51dup, XM_011539784.3:c.31_51del, XM_011539784.3:c.31_51dup, XM_011539784.2:c.31_51del, XM_011539784.2:c.31_51dup, XM_011539784.1:c.31_51del, XM_011539784.1:c.31_51dup, XM_024447987.2:c.31_51del, XM_024447987.2:c.31_51dup, XM_024447987.1:c.31_51del, XM_024447987.1:c.31_51dup, XM_024447984.2:c.31_51del, XM_024447984.2:c.31_51dup, XM_024447984.1:c.31_51del, XM_024447984.1:c.31_51dup, XM_017016217.2:c.31_51del, XM_017016217.2:c.31_51dup, XM_017016217.1:c.31_51del, XM_017016217.1:c.31_51dup, XM_024447989.2:c.31_51del, XM_024447989.2:c.31_51dup, XM_024447989.1:c.31_51del, XM_024447989.1:c.31_51dup, XM_024447988.2:c.31_51del, XM_024447988.2:c.31_51dup, XM_024447988.1:c.31_51del, XM_024447988.1:c.31_51dup, XM_024447990.2:c.31_51del, XM_024447990.2:c.31_51dup, XM_024447990.1:c.31_51del, XM_024447990.1:c.31_51dup, XM_024447985.2:c.31_51del, XM_024447985.2:c.31_51dup, XM_024447985.1:c.31_51del, XM_024447985.1:c.31_51dup, XM_047425196.1:c.31_51del, XM_047425196.1:c.31_51dup, XM_047425199.1:c.31_51del, XM_047425199.1:c.31_51dup, XM_047425195.1:c.31_51del, XM_047425195.1:c.31_51dup, XM_047425197.1:c.31_51del, XM_047425197.1:c.31_51dup, XM_047425201.1:c.31_51del, XM_047425201.1:c.31_51dup, XR_007061964.1:n.197_217del, XR_007061964.1:n.197_217dup, NP_002238.2:p.Ser11_Gly17del, NP_002238.2:p.Ser11_Gly17dup, NP_001014797.1:p.Ser11_Gly17del, NP_001014797.1:p.Ser11_Gly17dup, NP_001309759.1:p.Ser11_Gly17del, NP_001309759.1:p.Ser11_Gly17dup, NP_001309764.1:p.Ser11_Gly17del, NP_001309764.1:p.Ser11_Gly17dup, NP_001309758.1:p.Ser11_Gly17del, NP_001309758.1:p.Ser11_Gly17dup, NP_001309761.1:p.Ser11_Gly17del, NP_001309761.1:p.Ser11_Gly17dup, NP_001258447.1:p.Ser11_Gly17del, NP_001258447.1:p.Ser11_Gly17dup, NP_001154824.1:p.Ser11_Gly17del, NP_001154824.1:p.Ser11_Gly17dup, NP_001154825.1:p.Ser11_Gly17del, NP_001154825.1:p.Ser11_Gly17dup, NP_001309766.1:p.Ser11_Gly17del, NP_001309766.1:p.Ser11_Gly17dup, NP_001258448.1:p.Ser11_Gly17del, NP_001258448.1:p.Ser11_Gly17dup, NP_001309765.1:p.Ser11_Gly17del, NP_001309765.1:p.Ser11_Gly17dup, NP_001258451.1:p.Ser11_Gly17del, NP_001258451.1:p.Ser11_Gly17dup, NP_001258449.1:p.Ser11_Gly17del, NP_001258449.1:p.Ser11_Gly17dup, NP_001309768.1:p.Ser11_Gly17del, NP_001309768.1:p.Ser11_Gly17dup, NP_001258450.1:p.Ser11_Gly17del, NP_001258450.1:p.Ser11_Gly17dup, XP_005269833.1:p.Ser11_Gly17del, XP_005269833.1:p.Ser11_Gly17dup, XP_005269844.1:p.Ser11_Gly17del, XP_005269844.1:p.Ser11_Gly17dup, XP_011538083.1:p.Ser11_Gly17del, XP_011538083.1:p.Ser11_Gly17dup, XP_016871696.1:p.Ser11_Gly17del, XP_016871696.1:p.Ser11_Gly17dup, XP_016871697.1:p.Ser11_Gly17del, XP_016871697.1:p.Ser11_Gly17dup, XP_011538075.1:p.Ser11_Gly17del, XP_011538075.1:p.Ser11_Gly17dup, XP_016871699.1:p.Ser11_Gly17del, XP_016871699.1:p.Ser11_Gly17dup, XP_011538077.1:p.Ser11_Gly17del, XP_011538077.1:p.Ser11_Gly17dup, XP_016871700.1:p.Ser11_Gly17del, XP_016871700.1:p.Ser11_Gly17dup, XP_016871702.1:p.Ser11_Gly17del, XP_016871702.1:p.Ser11_Gly17dup, XP_011538082.1:p.Ser11_Gly17del, XP_011538082.1:p.Ser11_Gly17dup, XP_005269835.1:p.Ser11_Gly17del, XP_005269835.1:p.Ser11_Gly17dup, XP_005269838.1:p.Ser11_Gly17del, XP_005269838.1:p.Ser11_Gly17dup, XP_005269846.1:p.Ser11_Gly17del, XP_005269846.1:p.Ser11_Gly17dup, XP_011538087.1:p.Ser11_Gly17del, XP_011538087.1:p.Ser11_Gly17dup, XP_005269849.1:p.Ser11_Gly17del, XP_005269849.1:p.Ser11_Gly17dup, XP_005269853.1:p.Ser11_Gly17del, XP_005269853.1:p.Ser11_Gly17dup, XP_016871711.2:p.Ser11_Gly17del, XP_016871711.2:p.Ser11_Gly17dup, XP_016871708.1:p.Ser11_Gly17del, XP_016871708.1:p.Ser11_Gly17dup, XP_016871698.1:p.Ser11_Gly17del, XP_016871698.1:p.Ser11_Gly17dup, XP_011538076.1:p.Ser11_Gly17del, XP_011538076.1:p.Ser11_Gly17dup, XP_011538079.1:p.Ser11_Gly17del, XP_011538079.1:p.Ser11_Gly17dup, XP_011538080.1:p.Ser11_Gly17del, XP_011538080.1:p.Ser11_Gly17dup, XP_016871703.1:p.Ser11_Gly17del, XP_016871703.1:p.Ser11_Gly17dup, XP_011538084.1:p.Ser11_Gly17del, XP_011538084.1:p.Ser11_Gly17dup, XP_011538085.1:p.Ser11_Gly17del, XP_011538085.1:p.Ser11_Gly17dup, XP_006717889.1:p.Ser11_Gly17del, XP_006717889.1:p.Ser11_Gly17dup, XP_011538086.1:p.Ser11_Gly17del, XP_011538086.1:p.Ser11_Gly17dup, XP_024303755.1:p.Ser11_Gly17del, XP_024303755.1:p.Ser11_Gly17dup, XP_024303752.1:p.Ser11_Gly17del, XP_024303752.1:p.Ser11_Gly17dup, XP_016871706.1:p.Ser11_Gly17del, XP_016871706.1:p.Ser11_Gly17dup, XP_024303757.1:p.Ser11_Gly17del, XP_024303757.1:p.Ser11_Gly17dup, XP_024303756.1:p.Ser11_Gly17del, XP_024303756.1:p.Ser11_Gly17dup, XP_024303758.1:p.Ser11_Gly17del, XP_024303758.1:p.Ser11_Gly17dup, XP_024303753.1:p.Ser11_Gly17del, XP_024303753.1:p.Ser11_Gly17dup, XP_047281152.1:p.Ser11_Gly17del, XP_047281152.1:p.Ser11_Gly17dup, XP_047281155.1:p.Ser11_Gly17del, XP_047281155.1:p.Ser11_Gly17dup, XP_047281151.1:p.Ser11_Gly17del, XP_047281151.1:p.Ser11_Gly17dup, XP_047281153.1:p.Ser11_Gly17del, XP_047281153.1:p.Ser11_Gly17dup, XP_047281157.1:p.Ser11_Gly17del, XP_047281157.1:p.Ser11_Gly17dup

                  9.

                  rs1483499989 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:77637488 (GRCh38)
                    10:79397246 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:77637487:G:A
                    Gene:
                    KCNMA1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000010.11:g.77637488G>A, NC_000010.10:g.79397246G>A, NG_012270.1:g.5332C>T, NM_002247.4:c.155C>T, NM_002247.3:c.155C>T, NM_001014797.3:c.155C>T, NM_001014797.2:c.155C>T, NM_001322830.2:c.155C>T, NM_001322830.1:c.155C>T, NM_001322835.2:c.155C>T, NM_001322835.1:c.155C>T, NM_001322829.2:c.155C>T, NM_001322829.1:c.155C>T, NM_001322832.2:c.155C>T, NM_001322832.1:c.155C>T, NM_001271518.2:c.155C>T, NM_001271518.1:c.155C>T, NM_001161352.2:c.155C>T, NM_001161352.1:c.155C>T, NM_001161353.2:c.155C>T, NM_001161353.1:c.155C>T, NM_001322837.2:c.155C>T, NM_001322837.1:c.155C>T, NM_001271519.2:c.155C>T, NM_001271519.1:c.155C>T, NM_001322836.2:c.155C>T, NM_001322836.1:c.155C>T, NM_001271522.2:c.155C>T, NM_001271522.1:c.155C>T, NM_001271520.2:c.155C>T, NM_001271520.1:c.155C>T, NM_001322839.2:c.155C>T, NM_001322839.1:c.155C>T, NM_001271521.2:c.155C>T, NM_001271521.1:c.155C>T, NM_001410940.1:c.155C>T, XM_005269776.5:c.155C>T, XM_005269776.4:c.155C>T, XM_005269776.3:c.155C>T, XM_005269776.2:c.155C>T, XM_005269776.1:c.155C>T, XM_005269787.5:c.155C>T, XM_005269787.4:c.155C>T, XM_005269787.3:c.155C>T, XM_005269787.2:c.155C>T, XM_005269787.1:c.155C>T, XM_011539781.4:c.155C>T, XM_011539781.3:c.155C>T, XM_011539781.2:c.155C>T, XM_011539781.1:c.155C>T, XM_017016207.3:c.155C>T, XM_017016207.2:c.155C>T, XM_017016207.1:c.155C>T, XM_017016208.3:c.155C>T, XM_017016208.2:c.155C>T, XM_017016208.1:c.155C>T, XM_011539773.3:c.155C>T, XM_011539773.2:c.155C>T, XM_011539773.1:c.155C>T, XM_017016210.3:c.155C>T, XM_017016210.2:c.155C>T, XM_017016210.1:c.155C>T, XM_011539775.3:c.155C>T, XM_011539775.2:c.155C>T, XM_011539775.1:c.155C>T, XM_017016211.3:c.155C>T, XM_017016211.2:c.155C>T, XM_017016211.1:c.155C>T, XM_017016213.3:c.155C>T, XM_017016213.2:c.155C>T, XM_017016213.1:c.155C>T, XM_011539780.3:c.155C>T, XM_011539780.2:c.155C>T, XM_011539780.1:c.155C>T, XM_005269778.3:c.155C>T, XM_005269778.2:c.155C>T, XM_005269778.1:c.155C>T, XM_005269781.3:c.155C>T, XM_005269781.2:c.155C>T, XM_005269781.1:c.155C>T, XM_005269789.3:c.155C>T, XM_005269789.2:c.155C>T, XM_005269789.1:c.155C>T, XM_011539785.3:c.155C>T, XM_011539785.2:c.155C>T, XM_011539785.1:c.155C>T, XM_005269792.3:c.155C>T, XM_005269792.2:c.155C>T, XM_005269792.1:c.155C>T, XM_005269796.3:c.155C>T, XM_017016222.3:c.155C>T, XM_017016222.2:c.155C>T, XM_017016222.1:c.155C>T, XM_017016219.3:c.155C>T, XM_017016219.2:c.155C>T, XM_017016219.1:c.155C>T, XM_017016209.3:c.155C>T, XM_017016209.2:c.155C>T, XM_017016209.1:c.155C>T, XM_011539774.3:c.155C>T, XM_011539774.2:c.155C>T, XM_011539774.1:c.155C>T, XM_011539777.3:c.155C>T, XM_011539777.2:c.155C>T, XM_011539777.1:c.155C>T, XM_011539778.3:c.155C>T, XM_011539778.2:c.155C>T, XM_011539778.1:c.155C>T, XM_017016214.3:c.155C>T, XM_017016214.2:c.155C>T, XM_017016214.1:c.155C>T, XM_011539782.3:c.155C>T, XM_011539782.2:c.155C>T, XM_011539782.1:c.155C>T, XM_011539783.3:c.155C>T, XM_011539783.2:c.155C>T, XM_011539783.1:c.155C>T, XM_006717826.3:c.155C>T, XM_006717826.2:c.155C>T, XM_006717826.1:c.155C>T, XM_011539784.3:c.155C>T, XM_011539784.2:c.155C>T, XM_011539784.1:c.155C>T, XM_024447987.2:c.155C>T, XM_024447987.1:c.155C>T, XM_024447984.2:c.155C>T, XM_024447984.1:c.155C>T, XM_017016217.2:c.155C>T, XM_017016217.1:c.155C>T, XM_024447989.2:c.155C>T, XM_024447989.1:c.155C>T, XM_024447988.2:c.155C>T, XM_024447988.1:c.155C>T, XM_024447990.2:c.155C>T, XM_024447990.1:c.155C>T, XM_024447985.2:c.155C>T, XM_024447985.1:c.155C>T, XM_047425196.1:c.155C>T, XM_047425199.1:c.155C>T, XM_047425195.1:c.155C>T, XM_047425197.1:c.155C>T, XM_047425201.1:c.155C>T, XR_007061964.1:n.321C>T, NP_002238.2:p.Ser52Phe, NP_001014797.1:p.Ser52Phe, NP_001309759.1:p.Ser52Phe, NP_001309764.1:p.Ser52Phe, NP_001309758.1:p.Ser52Phe, NP_001309761.1:p.Ser52Phe, NP_001258447.1:p.Ser52Phe, NP_001154824.1:p.Ser52Phe, NP_001154825.1:p.Ser52Phe, NP_001309766.1:p.Ser52Phe, NP_001258448.1:p.Ser52Phe, NP_001309765.1:p.Ser52Phe, NP_001258451.1:p.Ser52Phe, NP_001258449.1:p.Ser52Phe, NP_001309768.1:p.Ser52Phe, NP_001258450.1:p.Ser52Phe, XP_005269833.1:p.Ser52Phe, XP_005269844.1:p.Ser52Phe, XP_011538083.1:p.Ser52Phe, XP_016871696.1:p.Ser52Phe, XP_016871697.1:p.Ser52Phe, XP_011538075.1:p.Ser52Phe, XP_016871699.1:p.Ser52Phe, XP_011538077.1:p.Ser52Phe, XP_016871700.1:p.Ser52Phe, XP_016871702.1:p.Ser52Phe, XP_011538082.1:p.Ser52Phe, XP_005269835.1:p.Ser52Phe, XP_005269838.1:p.Ser52Phe, XP_005269846.1:p.Ser52Phe, XP_011538087.1:p.Ser52Phe, XP_005269849.1:p.Ser52Phe, XP_005269853.1:p.Ser52Phe, XP_016871711.2:p.Ser52Phe, XP_016871708.1:p.Ser52Phe, XP_016871698.1:p.Ser52Phe, XP_011538076.1:p.Ser52Phe, XP_011538079.1:p.Ser52Phe, XP_011538080.1:p.Ser52Phe, XP_016871703.1:p.Ser52Phe, XP_011538084.1:p.Ser52Phe, XP_011538085.1:p.Ser52Phe, XP_006717889.1:p.Ser52Phe, XP_011538086.1:p.Ser52Phe, XP_024303755.1:p.Ser52Phe, XP_024303752.1:p.Ser52Phe, XP_016871706.1:p.Ser52Phe, XP_024303757.1:p.Ser52Phe, XP_024303756.1:p.Ser52Phe, XP_024303758.1:p.Ser52Phe, XP_024303753.1:p.Ser52Phe, XP_047281152.1:p.Ser52Phe, XP_047281155.1:p.Ser52Phe, XP_047281151.1:p.Ser52Phe, XP_047281153.1:p.Ser52Phe, XP_047281157.1:p.Ser52Phe

                    10.

                    rs1482865420 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      10:76910014 (GRCh38)
                      10:78669772 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:76910013:G:A,NC_000010.11:76910013:G:C
                      Gene:
                      KCNMA1 (Varview), KCNMA1-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      C=0.000008/2 (GnomAD_exomes)
                      C=0.000708/12 (TOMMO)
                      HGVS:
                      NC_000010.11:g.76910014G>A, NC_000010.11:g.76910014G>C, NC_000010.10:g.78669772G>A, NC_000010.10:g.78669772G>C, NG_012270.1:g.732806C>T, NG_012270.1:g.732806C>G, NM_002247.4:c.2925C>T, NM_002247.4:c.2925C>G, NM_002247.3:c.2925C>T, NM_002247.3:c.2925C>G, NM_001014797.3:c.2937C>T, NM_001014797.3:c.2937C>G, NM_001014797.2:c.2937C>T, NM_001014797.2:c.2937C>G, NM_001322830.2:c.3027C>T, NM_001322830.2:c.3027C>G, NM_001322830.1:c.3027C>T, NM_001322830.1:c.3027C>G, NM_001322835.2:c.3018C>T, NM_001322835.2:c.3018C>G, NM_001322835.1:c.3018C>T, NM_001322835.1:c.3018C>G, NM_001322838.2:c.2472C>T, NM_001322838.2:c.2472C>G, NM_001322838.1:c.2472C>T, NM_001322838.1:c.2472C>G, NM_001322829.2:c.2934C>T, NM_001322829.2:c.2934C>G, NM_001322829.1:c.2934C>T, NM_001322829.1:c.2934C>G, NM_001322832.2:c.2925C>T, NM_001322832.2:c.2925C>G, NM_001322832.1:c.2925C>T, NM_001322832.1:c.2925C>G, NM_001271518.2:c.2775C>T, NM_001271518.2:c.2775C>G, NM_001271518.1:c.2775C>T, NM_001271518.1:c.2775C>G, NM_001161352.2:c.3099C>T, NM_001161352.2:c.3099C>G, NM_001161352.1:c.3099C>T, NM_001161352.1:c.3099C>G, NM_001161353.2:c.3048C>T, NM_001161353.2:c.3048C>G, NM_001161353.1:c.3048C>T, NM_001161353.1:c.3048C>G, NM_001322837.2:c.3018C>T, NM_001322837.2:c.3018C>G, NM_001322837.1:c.3018C>T, NM_001322837.1:c.3018C>G, NM_001271519.2:c.3015C>T, NM_001271519.2:c.3015C>G, NM_001271519.1:c.3015C>T, NM_001271519.1:c.3015C>G, NM_001322836.2:c.2934C>T, NM_001322836.2:c.2934C>G, NM_001322836.1:c.2934C>T, NM_001322836.1:c.2934C>G, NM_001410940.1:c.2925C>T, NM_001410940.1:c.2925C>G, XM_005269776.5:c.3006C>T, XM_005269776.5:c.3006C>G, XM_005269776.4:c.3006C>T, XM_005269776.4:c.3006C>G, XM_005269776.3:c.3006C>T, XM_005269776.3:c.3006C>G, XM_005269776.2:c.3006C>T, XM_005269776.2:c.3006C>G, XM_005269776.1:c.3006C>T, XM_005269776.1:c.3006C>G, XM_005269787.5:c.2925C>T, XM_005269787.5:c.2925C>G, XM_005269787.4:c.2925C>T, XM_005269787.4:c.2925C>G, XM_005269787.3:c.2925C>T, XM_005269787.3:c.2925C>G, XM_005269787.2:c.2925C>T, XM_005269787.2:c.2925C>G, XM_005269787.1:c.2925C>T, XM_005269787.1:c.2925C>G, XM_011539781.4:c.3069C>T, XM_011539781.4:c.3069C>G, XM_011539781.3:c.3069C>T, XM_011539781.3:c.3069C>G, XM_011539781.2:c.3069C>T, XM_011539781.2:c.3069C>G, XM_011539781.1:c.3069C>T, XM_011539781.1:c.3069C>G, XM_017016207.3:c.3324C>T, XM_017016207.3:c.3324C>G, XM_017016207.2:c.3324C>T, XM_017016207.2:c.3324C>G, XM_017016207.1:c.3324C>T, XM_017016207.1:c.3324C>G, XM_017016208.3:c.3324C>T, XM_017016208.3:c.3324C>G, XM_017016208.2:c.3324C>T, XM_017016208.2:c.3324C>G, XM_017016208.1:c.3324C>T, XM_017016208.1:c.3324C>G, XM_011539773.3:c.3243C>T, XM_011539773.3:c.3243C>G, XM_011539773.2:c.3243C>T, XM_011539773.2:c.3243C>G, XM_011539773.1:c.3243C>T, XM_011539773.1:c.3243C>G, XM_017016210.3:c.3243C>T, XM_017016210.3:c.3243C>G, XM_017016210.2:c.3243C>T, XM_017016210.2:c.3243C>G, XM_017016210.1:c.3243C>T, XM_017016210.1:c.3243C>G, XM_011539775.3:c.3231C>T, XM_011539775.3:c.3231C>G, XM_011539775.2:c.3231C>T, XM_011539775.2:c.3231C>G, XM_011539775.1:c.3231C>T, XM_011539775.1:c.3231C>G, XM_017016211.3:c.3156C>T, XM_017016211.3:c.3156C>G, XM_017016211.2:c.3156C>T, XM_017016211.2:c.3156C>G, XM_017016211.1:c.3156C>T, XM_017016211.1:c.3156C>G, XM_017016213.3:c.3144C>T, XM_017016213.3:c.3144C>G, XM_017016213.2:c.3144C>T, XM_017016213.2:c.3144C>G, XM_017016213.1:c.3144C>T, XM_017016213.1:c.3144C>G, XM_011539780.3:c.3111C>T, XM_011539780.3:c.3111C>G, XM_011539780.2:c.3111C>T, XM_011539780.2:c.3111C>G, XM_011539780.1:c.3111C>T, XM_011539780.1:c.3111C>G, XM_005269778.3:c.3111C>T, XM_005269778.3:c.3111C>G, XM_005269778.2:c.3111C>T, XM_005269778.2:c.3111C>G, XM_005269778.1:c.3111C>T, XM_005269778.1:c.3111C>G, XM_005269781.3:c.3099C>T, XM_005269781.3:c.3099C>G, XM_005269781.2:c.3099C>T, XM_005269781.2:c.3099C>G, XM_005269781.1:c.3099C>T, XM_005269781.1:c.3099C>G, XM_005269789.3:c.3018C>T, XM_005269789.3:c.3018C>G, XM_005269789.2:c.3018C>T, XM_005269789.2:c.3018C>G, XM_005269789.1:c.3018C>T, XM_005269789.1:c.3018C>G, XM_011539785.3:c.3015C>T, XM_011539785.3:c.3015C>G, XM_011539785.2:c.3015C>T, XM_011539785.2:c.3015C>G, XM_011539785.1:c.3015C>T, XM_011539785.1:c.3015C>G, XM_005269792.3:c.3012C>T, XM_005269792.3:c.3012C>G, XM_005269792.2:c.3012C>T, XM_005269792.2:c.3012C>G, XM_005269792.1:c.3012C>T, XM_005269792.1:c.3012C>G, XM_005269796.3:c.2925C>T, XM_005269796.3:c.2925C>G, XM_017016222.3:c.2925C>T, XM_017016222.3:c.2925C>G, XM_017016222.2:c.2925C>T, XM_017016222.2:c.2925C>G, XM_017016222.1:c.2925C>T, XM_017016222.1:c.2925C>G, XM_017016209.3:c.3312C>T, XM_017016209.3:c.3312C>G, XM_017016209.2:c.3312C>T, XM_017016209.2:c.3312C>G, XM_017016209.1:c.3312C>T, XM_017016209.1:c.3312C>G, XM_011539774.3:c.3237C>T, XM_011539774.3:c.3237C>G, XM_011539774.2:c.3237C>T, XM_011539774.2:c.3237C>G, XM_011539774.1:c.3237C>T, XM_011539774.1:c.3237C>G, XM_011539777.3:c.3192C>T, XM_011539777.3:c.3192C>G, XM_011539777.2:c.3192C>T, XM_011539777.2:c.3192C>G, XM_011539777.1:c.3192C>T, XM_011539777.1:c.3192C>G, XM_011539778.3:c.3180C>T, XM_011539778.3:c.3180C>G, XM_011539778.2:c.3180C>T, XM_011539778.2:c.3180C>G, XM_011539778.1:c.3180C>T, XM_011539778.1:c.3180C>G, XM_017016214.3:c.3138C>T, XM_017016214.3:c.3138C>G, XM_017016214.2:c.3138C>T, XM_017016214.2:c.3138C>G, XM_017016214.1:c.3138C>T, XM_017016214.1:c.3138C>G, XM_011539782.3:c.3057C>T, XM_011539782.3:c.3057C>G, XM_011539782.2:c.3057C>T, XM_011539782.2:c.3057C>G, XM_011539782.1:c.3057C>T, XM_011539782.1:c.3057C>G, XM_011539783.3:c.3024C>T, XM_011539783.3:c.3024C>G, XM_011539783.2:c.3024C>T, XM_011539783.2:c.3024C>G, XM_011539783.1:c.3024C>T, XM_011539783.1:c.3024C>G, XM_006717826.3:c.3006C>T, XM_006717826.3:c.3006C>G, XM_006717826.2:c.3006C>T, XM_006717826.2:c.3006C>G, XM_006717826.1:c.3006C>T, XM_006717826.1:c.3006C>G, XM_024447986.2:c.2718C>T, XM_024447986.2:c.2718C>G, XM_024447986.1:c.2718C>T, XM_024447986.1:c.2718C>G, XM_024447987.2:c.3099C>T, XM_024447987.2:c.3099C>G, XM_024447987.1:c.3099C>T, XM_024447987.1:c.3099C>G, XM_024447984.2:c.3099C>T, XM_024447984.2:c.3099C>G, XM_024447984.1:c.3099C>T, XM_024447984.1:c.3099C>G, XM_017016217.2:c.3057C>T, XM_017016217.2:c.3057C>G, XM_017016217.1:c.3057C>T, XM_017016217.1:c.3057C>G, XM_024447989.2:c.2937C>T, XM_024447989.2:c.2937C>G, XM_024447989.1:c.2937C>T, XM_024447989.1:c.2937C>G, XM_024447988.2:c.2937C>T, XM_024447988.2:c.2937C>G, XM_024447988.1:c.2937C>T, XM_024447988.1:c.2937C>G, XM_024447990.2:c.2925C>T, XM_024447990.2:c.2925C>G, XM_024447990.1:c.2925C>T, XM_024447990.1:c.2925C>G, XM_024447985.2:c.2937C>T, XM_024447985.2:c.2937C>G, XM_024447985.1:c.2937C>T, XM_024447985.1:c.2937C>G, XM_047425196.1:c.3144C>T, XM_047425196.1:c.3144C>G, XM_047425199.1:c.3012C>T, XM_047425199.1:c.3012C>G, XM_017016223.1:c.2472C>T, XM_017016223.1:c.2472C>G, XM_047425195.1:c.3150C>T, XM_047425195.1:c.3150C>G, XM_047425197.1:c.3093C>T, XM_047425197.1:c.3093C>G, XM_047425200.1:c.2424C>T, XM_047425200.1:c.2424C>G

                      11.

                      rs1482244383 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:76889480 (GRCh38)
                        10:78649238 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:76889479:G:A
                        Gene:
                        KCNMA1 (Varview), KCNMA1-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.76889480G>A, NC_000010.10:g.78649238G>A, NG_012270.1:g.753340C>T, NM_002247.4:c.3258C>T, NM_002247.3:c.3258C>T, NM_001014797.3:c.3270C>T, NM_001014797.2:c.3270C>T, NM_001322830.2:c.3360C>T, NM_001322830.1:c.3360C>T, NM_001322835.2:c.3351C>T, NM_001322835.1:c.3351C>T, NM_001322838.2:c.2805C>T, NM_001322838.1:c.2805C>T, NM_001322829.2:c.3267C>T, NM_001322829.1:c.3267C>T, NM_001322832.2:c.3258C>T, NM_001322832.1:c.3258C>T, NM_001271518.2:c.3108C>T, NM_001271518.1:c.3108C>T, NM_001161352.2:c.3432C>T, NM_001161352.1:c.3432C>T, NM_001161353.2:c.3381C>T, NM_001161353.1:c.3381C>T, NM_001322837.2:c.3351C>T, NM_001322837.1:c.3351C>T, NM_001271519.2:c.3348C>T, NM_001271519.1:c.3348C>T, NM_001322836.2:c.3267C>T, NM_001322836.1:c.3267C>T, NM_001410940.1:c.3258C>T, XM_005269776.5:c.3339C>T, XM_005269776.4:c.3339C>T, XM_005269776.3:c.3339C>T, XM_005269776.2:c.3339C>T, XM_005269776.1:c.3339C>T, XM_005269787.5:c.3258C>T, XM_005269787.4:c.3258C>T, XM_005269787.3:c.3258C>T, XM_005269787.2:c.3258C>T, XM_005269787.1:c.3258C>T, XM_011539781.4:c.3402C>T, XM_011539781.3:c.3402C>T, XM_011539781.2:c.3402C>T, XM_011539781.1:c.3402C>T, XM_017016207.3:c.3657C>T, XM_017016207.2:c.3657C>T, XM_017016207.1:c.3657C>T, XM_017016208.3:c.3657C>T, XM_017016208.2:c.3657C>T, XM_017016208.1:c.3657C>T, XM_011539773.3:c.3576C>T, XM_011539773.2:c.3576C>T, XM_011539773.1:c.3576C>T, XM_017016210.3:c.3576C>T, XM_017016210.2:c.3576C>T, XM_017016210.1:c.3576C>T, XM_011539775.3:c.3564C>T, XM_011539775.2:c.3564C>T, XM_011539775.1:c.3564C>T, XM_017016211.3:c.3489C>T, XM_017016211.2:c.3489C>T, XM_017016211.1:c.3489C>T, XM_017016213.3:c.3477C>T, XM_017016213.2:c.3477C>T, XM_017016213.1:c.3477C>T, XM_011539780.3:c.3444C>T, XM_011539780.2:c.3444C>T, XM_011539780.1:c.3444C>T, XM_005269778.3:c.3444C>T, XM_005269778.2:c.3444C>T, XM_005269778.1:c.3444C>T, XM_005269781.3:c.3432C>T, XM_005269781.2:c.3432C>T, XM_005269781.1:c.3432C>T, XM_005269789.3:c.3351C>T, XM_005269789.2:c.3351C>T, XM_005269789.1:c.3351C>T, XM_011539785.3:c.3348C>T, XM_011539785.2:c.3348C>T, XM_011539785.1:c.3348C>T, XM_005269792.3:c.3345C>T, XM_005269792.2:c.3345C>T, XM_005269792.1:c.3345C>T, XM_005269796.3:c.3258C>T, XM_017016222.3:c.3258C>T, XM_017016222.2:c.3258C>T, XM_017016222.1:c.3258C>T, XM_017016209.3:c.3645C>T, XM_017016209.2:c.3645C>T, XM_017016209.1:c.3645C>T, XM_011539774.3:c.3570C>T, XM_011539774.2:c.3570C>T, XM_011539774.1:c.3570C>T, XM_011539777.3:c.3525C>T, XM_011539777.2:c.3525C>T, XM_011539777.1:c.3525C>T, XM_011539778.3:c.3513C>T, XM_011539778.2:c.3513C>T, XM_011539778.1:c.3513C>T, XM_017016214.3:c.3471C>T, XM_017016214.2:c.3471C>T, XM_017016214.1:c.3471C>T, XM_011539782.3:c.3390C>T, XM_011539782.2:c.3390C>T, XM_011539782.1:c.3390C>T, XM_011539783.3:c.3357C>T, XM_011539783.2:c.3357C>T, XM_011539783.1:c.3357C>T, XM_006717826.3:c.3339C>T, XM_006717826.2:c.3339C>T, XM_006717826.1:c.3339C>T, XM_024447986.2:c.3051C>T, XM_024447986.1:c.3051C>T, XM_024447987.2:c.3432C>T, XM_024447987.1:c.3432C>T, XM_024447984.2:c.3432C>T, XM_024447984.1:c.3432C>T, XM_017016217.2:c.3390C>T, XM_017016217.1:c.3390C>T, XM_024447989.2:c.3270C>T, XM_024447989.1:c.3270C>T, XM_024447988.2:c.3270C>T, XM_024447988.1:c.3270C>T, XM_024447990.2:c.3258C>T, XM_024447990.1:c.3258C>T, XM_024447985.2:c.3270C>T, XM_024447985.1:c.3270C>T, XM_047425196.1:c.3477C>T, XM_047425199.1:c.3345C>T, XM_017016223.1:c.2805C>T, XM_047425195.1:c.3483C>T, XM_047425197.1:c.3426C>T, XM_047425200.1:c.2757C>T

                        12.

                        rs1482018453 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          10:77251224 (GRCh38)
                          10:79010982 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:77251223:T:C,NC_000010.11:77251223:T:G
                          Gene:
                          KCNMA1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          G=0.000071/1 (TOMMO)
                          HGVS:
                          NC_000010.11:g.77251224T>C, NC_000010.11:g.77251224T>G, NC_000010.10:g.79010982T>C, NC_000010.10:g.79010982T>G, NG_012270.1:g.391596A>G, NG_012270.1:g.391596A>C, NM_002247.4:c.573A>G, NM_002247.4:c.573A>C, NM_002247.3:c.573A>G, NM_002247.3:c.573A>C, NM_001014797.3:c.573A>G, NM_001014797.3:c.573A>C, NM_001014797.2:c.573A>G, NM_001014797.2:c.573A>C, NM_001322830.2:c.573A>G, NM_001322830.2:c.573A>C, NM_001322830.1:c.573A>G, NM_001322830.1:c.573A>C, NM_001322835.2:c.573A>G, NM_001322835.2:c.573A>C, NM_001322835.1:c.573A>G, NM_001322835.1:c.573A>C, NM_001322838.2:c.-44A>G, NM_001322838.2:c.-44A>C, NM_001322838.1:c.-44A>G, NM_001322838.1:c.-44A>C, NM_001322829.2:c.573A>G, NM_001322829.2:c.573A>C, NM_001322829.1:c.573A>G, NM_001322829.1:c.573A>C, NM_001322832.2:c.573A>G, NM_001322832.2:c.573A>C, NM_001322832.1:c.573A>G, NM_001322832.1:c.573A>C, NM_001271518.2:c.411A>G, NM_001271518.2:c.411A>C, NM_001271518.1:c.411A>G, NM_001271518.1:c.411A>C, NM_001161352.2:c.573A>G, NM_001161352.2:c.573A>C, NM_001161352.1:c.573A>G, NM_001161352.1:c.573A>C, NM_001161353.2:c.573A>G, NM_001161353.2:c.573A>C, NM_001161353.1:c.573A>G, NM_001161353.1:c.573A>C, NM_001322837.2:c.573A>G, NM_001322837.2:c.573A>C, NM_001322837.1:c.573A>G, NM_001322837.1:c.573A>C, NM_001271519.2:c.573A>G, NM_001271519.2:c.573A>C, NM_001271519.1:c.573A>G, NM_001271519.1:c.573A>C, NM_001322836.2:c.573A>G, NM_001322836.2:c.573A>C, NM_001322836.1:c.573A>G, NM_001322836.1:c.573A>C, NM_001410940.1:c.573A>G, NM_001410940.1:c.573A>C, XM_005269776.5:c.573A>G, XM_005269776.5:c.573A>C, XM_005269776.4:c.573A>G, XM_005269776.4:c.573A>C, XM_005269776.3:c.573A>G, XM_005269776.3:c.573A>C, XM_005269776.2:c.573A>G, XM_005269776.2:c.573A>C, XM_005269776.1:c.573A>G, XM_005269776.1:c.573A>C, XM_005269787.5:c.573A>G, XM_005269787.5:c.573A>C, XM_005269787.4:c.573A>G, XM_005269787.4:c.573A>C, XM_005269787.3:c.573A>G, XM_005269787.3:c.573A>C, XM_005269787.2:c.573A>G, XM_005269787.2:c.573A>C, XM_005269787.1:c.573A>G, XM_005269787.1:c.573A>C, XM_011539781.4:c.705A>G, XM_011539781.4:c.705A>C, XM_011539781.3:c.705A>G, XM_011539781.3:c.705A>C, XM_011539781.2:c.705A>G, XM_011539781.2:c.705A>C, XM_011539781.1:c.705A>G, XM_011539781.1:c.705A>C, XM_017016207.3:c.705A>G, XM_017016207.3:c.705A>C, XM_017016207.2:c.705A>G, XM_017016207.2:c.705A>C, XM_017016207.1:c.705A>G, XM_017016207.1:c.705A>C, XM_017016208.3:c.705A>G, XM_017016208.3:c.705A>C, XM_017016208.2:c.705A>G, XM_017016208.2:c.705A>C, XM_017016208.1:c.705A>G, XM_017016208.1:c.705A>C, XM_011539773.3:c.705A>G, XM_011539773.3:c.705A>C, XM_011539773.2:c.705A>G, XM_011539773.2:c.705A>C, XM_011539773.1:c.705A>G, XM_011539773.1:c.705A>C, XM_017016210.3:c.705A>G, XM_017016210.3:c.705A>C, XM_017016210.2:c.705A>G, XM_017016210.2:c.705A>C, XM_017016210.1:c.705A>G, XM_017016210.1:c.705A>C, XM_011539775.3:c.705A>G, XM_011539775.3:c.705A>C, XM_011539775.2:c.705A>G, XM_011539775.2:c.705A>C, XM_011539775.1:c.705A>G, XM_011539775.1:c.705A>C, XM_017016211.3:c.705A>G, XM_017016211.3:c.705A>C, XM_017016211.2:c.705A>G, XM_017016211.2:c.705A>C, XM_017016211.1:c.705A>G, XM_017016211.1:c.705A>C, XM_017016213.3:c.705A>G, XM_017016213.3:c.705A>C, XM_017016213.2:c.705A>G, XM_017016213.2:c.705A>C, XM_017016213.1:c.705A>G, XM_017016213.1:c.705A>C, XM_011539780.3:c.573A>G, XM_011539780.3:c.573A>C, XM_011539780.2:c.573A>G, XM_011539780.2:c.573A>C, XM_011539780.1:c.573A>G, XM_011539780.1:c.573A>C, XM_005269778.3:c.573A>G, XM_005269778.3:c.573A>C, XM_005269778.2:c.573A>G, XM_005269778.2:c.573A>C, XM_005269778.1:c.573A>G, XM_005269778.1:c.573A>C, XM_005269781.3:c.573A>G, XM_005269781.3:c.573A>C, XM_005269781.2:c.573A>G, XM_005269781.2:c.573A>C, XM_005269781.1:c.573A>G, XM_005269781.1:c.573A>C, XM_005269789.3:c.573A>G, XM_005269789.3:c.573A>C, XM_005269789.2:c.573A>G, XM_005269789.2:c.573A>C, XM_005269789.1:c.573A>G, XM_005269789.1:c.573A>C, XM_011539785.3:c.573A>G, XM_011539785.3:c.573A>C, XM_011539785.2:c.573A>G, XM_011539785.2:c.573A>C, XM_011539785.1:c.573A>G, XM_011539785.1:c.573A>C, XM_005269792.3:c.573A>G, XM_005269792.3:c.573A>C, XM_005269792.2:c.573A>G, XM_005269792.2:c.573A>C, XM_005269792.1:c.573A>G, XM_005269792.1:c.573A>C, XM_005269796.3:c.573A>G, XM_005269796.3:c.573A>C, XM_017016222.3:c.573A>G, XM_017016222.3:c.573A>C, XM_017016222.2:c.573A>G, XM_017016222.2:c.573A>C, XM_017016222.1:c.573A>G, XM_017016222.1:c.573A>C, XM_017016219.3:c.705A>G, XM_017016219.3:c.705A>C, XM_017016219.2:c.705A>G, XM_017016219.2:c.705A>C, XM_017016219.1:c.705A>G, XM_017016219.1:c.705A>C, XM_017016209.3:c.705A>G, XM_017016209.3:c.705A>C, XM_017016209.2:c.705A>G, XM_017016209.2:c.705A>C, XM_017016209.1:c.705A>G, XM_017016209.1:c.705A>C, XM_011539774.3:c.705A>G, XM_011539774.3:c.705A>C, XM_011539774.2:c.705A>G, XM_011539774.2:c.705A>C, XM_011539774.1:c.705A>G, XM_011539774.1:c.705A>C, XM_011539777.3:c.573A>G, XM_011539777.3:c.573A>C, XM_011539777.2:c.573A>G, XM_011539777.2:c.573A>C, XM_011539777.1:c.573A>G, XM_011539777.1:c.573A>C, XM_011539778.3:c.573A>G, XM_011539778.3:c.573A>C, XM_011539778.2:c.573A>G, XM_011539778.2:c.573A>C, XM_011539778.1:c.573A>G, XM_011539778.1:c.573A>C, XM_017016214.3:c.705A>G, XM_017016214.3:c.705A>C, XM_017016214.2:c.705A>G, XM_017016214.2:c.705A>C, XM_017016214.1:c.705A>G, XM_017016214.1:c.705A>C, XM_011539782.3:c.705A>G, XM_011539782.3:c.705A>C, XM_011539782.2:c.705A>G, XM_011539782.2:c.705A>C, XM_011539782.1:c.705A>G, XM_011539782.1:c.705A>C, XM_011539783.3:c.573A>G, XM_011539783.3:c.573A>C, XM_011539783.2:c.573A>G, XM_011539783.2:c.573A>C, XM_011539783.1:c.573A>G, XM_011539783.1:c.573A>C, XM_006717826.3:c.573A>G, XM_006717826.3:c.573A>C, XM_006717826.2:c.573A>G, XM_006717826.2:c.573A>C, XM_006717826.1:c.573A>G, XM_006717826.1:c.573A>C, XM_011539784.3:c.705A>G, XM_011539784.3:c.705A>C, XM_011539784.2:c.705A>G, XM_011539784.2:c.705A>C, XM_011539784.1:c.705A>G, XM_011539784.1:c.705A>C, XM_024447986.2:c.99A>G, XM_024447986.2:c.99A>C, XM_024447986.1:c.99A>G, XM_024447986.1:c.99A>C, XM_024447987.2:c.573A>G, XM_024447987.2:c.573A>C, XM_024447987.1:c.573A>G, XM_024447987.1:c.573A>C, XM_024447984.2:c.573A>G, XM_024447984.2:c.573A>C, XM_024447984.1:c.573A>G, XM_024447984.1:c.573A>C, XM_017016217.2:c.705A>G, XM_017016217.2:c.705A>C, XM_017016217.1:c.705A>G, XM_017016217.1:c.705A>C, XM_024447989.2:c.573A>G, XM_024447989.2:c.573A>C, XM_024447989.1:c.573A>G, XM_024447989.1:c.573A>C, XM_024447988.2:c.573A>G, XM_024447988.2:c.573A>C, XM_024447988.1:c.573A>G, XM_024447988.1:c.573A>C, XM_024447990.2:c.573A>G, XM_024447990.2:c.573A>C, XM_024447990.1:c.573A>G, XM_024447990.1:c.573A>C, XM_024447985.2:c.573A>G, XM_024447985.2:c.573A>C, XM_024447985.1:c.573A>G, XM_024447985.1:c.573A>C, XM_047425196.1:c.705A>G, XM_047425196.1:c.705A>C, XM_047425199.1:c.573A>G, XM_047425199.1:c.573A>C, XM_047425195.1:c.705A>G, XM_047425195.1:c.705A>C, XM_047425197.1:c.573A>G, XM_047425197.1:c.573A>C, XM_047425200.1:c.72A>G, XM_047425200.1:c.72A>C, XM_047425201.1:c.573A>G, XM_047425201.1:c.573A>C, XR_007061964.1:n.739A>G, XR_007061964.1:n.739A>C

                          13.

                          rs1481966171 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CAC [Show Flanks]
                            Chromosome:
                            10:77637291 (GRCh38)
                            10:79397050 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:77637291:CAC:CACCAC
                            Gene:
                            KCNMA1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CACCAC=0./0 (ALFA)
                            CAC=0.000004/1 (GnomAD_exomes)
                            CAC=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.77637292_77637294dup, NC_000010.10:g.79397050_79397052dup, NG_012270.1:g.5526_5528dup, NM_002247.4:c.349_351dup, NM_002247.3:c.349_351dup, NM_001014797.3:c.349_351dup, NM_001014797.2:c.349_351dup, NM_001322830.2:c.349_351dup, NM_001322830.1:c.349_351dup, NM_001322835.2:c.349_351dup, NM_001322835.1:c.349_351dup, NM_001322829.2:c.349_351dup, NM_001322829.1:c.349_351dup, NM_001322832.2:c.349_351dup, NM_001322832.1:c.349_351dup, NM_001271518.2:c.349_351dup, NM_001271518.1:c.349_351dup, NM_001161352.2:c.349_351dup, NM_001161352.1:c.349_351dup, NM_001161353.2:c.349_351dup, NM_001161353.1:c.349_351dup, NM_001322837.2:c.349_351dup, NM_001322837.1:c.349_351dup, NM_001271519.2:c.349_351dup, NM_001271519.1:c.349_351dup, NM_001322836.2:c.349_351dup, NM_001322836.1:c.349_351dup, NM_001271522.2:c.349_351dup, NM_001271522.1:c.349_351dup, NM_001271520.2:c.349_351dup, NM_001271520.1:c.349_351dup, NM_001322839.2:c.349_351dup, NM_001322839.1:c.349_351dup, NM_001271521.2:c.349_351dup, NM_001271521.1:c.349_351dup, NM_001410940.1:c.349_351dup, XM_005269776.5:c.349_351dup, XM_005269776.4:c.349_351dup, XM_005269776.3:c.349_351dup, XM_005269776.2:c.349_351dup, XM_005269776.1:c.349_351dup, XM_005269787.5:c.349_351dup, XM_005269787.4:c.349_351dup, XM_005269787.3:c.349_351dup, XM_005269787.2:c.349_351dup, XM_005269787.1:c.349_351dup, XM_011539781.4:c.349_351dup, XM_011539781.3:c.349_351dup, XM_011539781.2:c.349_351dup, XM_011539781.1:c.349_351dup, XM_017016207.3:c.349_351dup, XM_017016207.2:c.349_351dup, XM_017016207.1:c.349_351dup, XM_017016208.3:c.349_351dup, XM_017016208.2:c.349_351dup, XM_017016208.1:c.349_351dup, XM_011539773.3:c.349_351dup, XM_011539773.2:c.349_351dup, XM_011539773.1:c.349_351dup, XM_017016210.3:c.349_351dup, XM_017016210.2:c.349_351dup, XM_017016210.1:c.349_351dup, XM_011539775.3:c.349_351dup, XM_011539775.2:c.349_351dup, XM_011539775.1:c.349_351dup, XM_017016211.3:c.349_351dup, XM_017016211.2:c.349_351dup, XM_017016211.1:c.349_351dup, XM_017016213.3:c.349_351dup, XM_017016213.2:c.349_351dup, XM_017016213.1:c.349_351dup, XM_011539780.3:c.349_351dup, XM_011539780.2:c.349_351dup, XM_011539780.1:c.349_351dup, XM_005269778.3:c.349_351dup, XM_005269778.2:c.349_351dup, XM_005269778.1:c.349_351dup, XM_005269781.3:c.349_351dup, XM_005269781.2:c.349_351dup, XM_005269781.1:c.349_351dup, XM_005269789.3:c.349_351dup, XM_005269789.2:c.349_351dup, XM_005269789.1:c.349_351dup, XM_011539785.3:c.349_351dup, XM_011539785.2:c.349_351dup, XM_011539785.1:c.349_351dup, XM_005269792.3:c.349_351dup, XM_005269792.2:c.349_351dup, XM_005269792.1:c.349_351dup, XM_005269796.3:c.349_351dup, XM_017016222.3:c.349_351dup, XM_017016222.2:c.349_351dup, XM_017016222.1:c.349_351dup, XM_017016219.3:c.349_351dup, XM_017016219.2:c.349_351dup, XM_017016219.1:c.349_351dup, XM_017016209.3:c.349_351dup, XM_017016209.2:c.349_351dup, XM_017016209.1:c.349_351dup, XM_011539774.3:c.349_351dup, XM_011539774.2:c.349_351dup, XM_011539774.1:c.349_351dup, XM_011539777.3:c.349_351dup, XM_011539777.2:c.349_351dup, XM_011539777.1:c.349_351dup, XM_011539778.3:c.349_351dup, XM_011539778.2:c.349_351dup, XM_011539778.1:c.349_351dup, XM_017016214.3:c.349_351dup, XM_017016214.2:c.349_351dup, XM_017016214.1:c.349_351dup, XM_011539782.3:c.349_351dup, XM_011539782.2:c.349_351dup, XM_011539782.1:c.349_351dup, XM_011539783.3:c.349_351dup, XM_011539783.2:c.349_351dup, XM_011539783.1:c.349_351dup, XM_006717826.3:c.349_351dup, XM_006717826.2:c.349_351dup, XM_006717826.1:c.349_351dup, XM_011539784.3:c.349_351dup, XM_011539784.2:c.349_351dup, XM_011539784.1:c.349_351dup, XM_024447987.2:c.349_351dup, XM_024447987.1:c.349_351dup, XM_024447984.2:c.349_351dup, XM_024447984.1:c.349_351dup, XM_017016217.2:c.349_351dup, XM_017016217.1:c.349_351dup, XM_024447989.2:c.349_351dup, XM_024447989.1:c.349_351dup, XM_024447988.2:c.349_351dup, XM_024447988.1:c.349_351dup, XM_024447990.2:c.349_351dup, XM_024447990.1:c.349_351dup, XM_024447985.2:c.349_351dup, XM_024447985.1:c.349_351dup, XM_047425196.1:c.349_351dup, XM_047425199.1:c.349_351dup, XM_047425195.1:c.349_351dup, XM_047425197.1:c.349_351dup, XM_047425201.1:c.349_351dup, XR_007061964.1:n.515_517dup, NP_002238.2:p.Val117dup, NP_001014797.1:p.Val117dup, NP_001309759.1:p.Val117dup, NP_001309764.1:p.Val117dup, NP_001309758.1:p.Val117dup, NP_001309761.1:p.Val117dup, NP_001258447.1:p.Val117dup, NP_001154824.1:p.Val117dup, NP_001154825.1:p.Val117dup, NP_001309766.1:p.Val117dup, NP_001258448.1:p.Val117dup, NP_001309765.1:p.Val117dup, NP_001258451.1:p.Val117dup, NP_001258449.1:p.Val117dup, NP_001309768.1:p.Val117dup, NP_001258450.1:p.Val117dup, XP_005269833.1:p.Val117dup, XP_005269844.1:p.Val117dup, XP_011538083.1:p.Val117dup, XP_016871696.1:p.Val117dup, XP_016871697.1:p.Val117dup, XP_011538075.1:p.Val117dup, XP_016871699.1:p.Val117dup, XP_011538077.1:p.Val117dup, XP_016871700.1:p.Val117dup, XP_016871702.1:p.Val117dup, XP_011538082.1:p.Val117dup, XP_005269835.1:p.Val117dup, XP_005269838.1:p.Val117dup, XP_005269846.1:p.Val117dup, XP_011538087.1:p.Val117dup, XP_005269849.1:p.Val117dup, XP_005269853.1:p.Val117dup, XP_016871711.2:p.Val117dup, XP_016871708.1:p.Val117dup, XP_016871698.1:p.Val117dup, XP_011538076.1:p.Val117dup, XP_011538079.1:p.Val117dup, XP_011538080.1:p.Val117dup, XP_016871703.1:p.Val117dup, XP_011538084.1:p.Val117dup, XP_011538085.1:p.Val117dup, XP_006717889.1:p.Val117dup, XP_011538086.1:p.Val117dup, XP_024303755.1:p.Val117dup, XP_024303752.1:p.Val117dup, XP_016871706.1:p.Val117dup, XP_024303757.1:p.Val117dup, XP_024303756.1:p.Val117dup, XP_024303758.1:p.Val117dup, XP_024303753.1:p.Val117dup, XP_047281152.1:p.Val117dup, XP_047281155.1:p.Val117dup, XP_047281151.1:p.Val117dup, XP_047281153.1:p.Val117dup, XP_047281157.1:p.Val117dup

                            14.

                            rs1480996634 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:76969998 (GRCh38)
                              10:78729756 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:76969997:G:A
                              Gene:
                              KCNMA1 (Varview), KCNMA1-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000085/3 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000010.11:g.76969998G>A, NC_000010.10:g.78729756G>A, NG_012270.1:g.672822C>T, NM_002247.4:c.2162C>T, NM_002247.3:c.2162C>T, NM_001014797.3:c.2174C>T, NM_001014797.2:c.2174C>T, NM_001322830.2:c.2183C>T, NM_001322830.1:c.2183C>T, NM_001322835.2:c.2174C>T, NM_001322835.1:c.2174C>T, NM_001322838.2:c.1709C>T, NM_001322838.1:c.1709C>T, NM_001322829.2:c.2171C>T, NM_001322829.1:c.2171C>T, NM_001322832.2:c.2162C>T, NM_001322832.1:c.2162C>T, NM_001271518.2:c.2012C>T, NM_001271518.1:c.2012C>T, NM_001161352.2:c.2336C>T, NM_001161352.1:c.2336C>T, NM_001161353.2:c.2162C>T, NM_001161353.1:c.2162C>T, NM_001322837.2:c.2174C>T, NM_001322837.1:c.2174C>T, NM_001271519.2:c.2171C>T, NM_001271519.1:c.2171C>T, NM_001322836.2:c.2171C>T, NM_001322836.1:c.2171C>T, NM_001410940.1:c.2162C>T, XM_005269776.5:c.2162C>T, XM_005269776.4:c.2162C>T, XM_005269776.3:c.2162C>T, XM_005269776.2:c.2162C>T, XM_005269776.1:c.2162C>T, XM_005269787.5:c.2162C>T, XM_005269787.4:c.2162C>T, XM_005269787.3:c.2162C>T, XM_005269787.2:c.2162C>T, XM_005269787.1:c.2162C>T, XM_011539781.4:c.2306C>T, XM_011539781.3:c.2306C>T, XM_011539781.2:c.2306C>T, XM_011539781.1:c.2306C>T, XM_017016207.3:c.2480C>T, XM_017016207.2:c.2480C>T, XM_017016207.1:c.2480C>T, XM_017016208.3:c.2480C>T, XM_017016208.2:c.2480C>T, XM_017016208.1:c.2480C>T, XM_011539773.3:c.2480C>T, XM_011539773.2:c.2480C>T, XM_011539773.1:c.2480C>T, XM_017016210.3:c.2480C>T, XM_017016210.2:c.2480C>T, XM_017016210.1:c.2480C>T, XM_011539775.3:c.2468C>T, XM_011539775.2:c.2468C>T, XM_011539775.1:c.2468C>T, XM_017016211.3:c.2393C>T, XM_017016211.2:c.2393C>T, XM_017016211.1:c.2393C>T, XM_017016213.3:c.2381C>T, XM_017016213.2:c.2381C>T, XM_017016213.1:c.2381C>T, XM_011539780.3:c.2348C>T, XM_011539780.2:c.2348C>T, XM_011539780.1:c.2348C>T, XM_005269778.3:c.2348C>T, XM_005269778.2:c.2348C>T, XM_005269778.1:c.2348C>T, XM_005269781.3:c.2336C>T, XM_005269781.2:c.2336C>T, XM_005269781.1:c.2336C>T, XM_005269789.3:c.2174C>T, XM_005269789.2:c.2174C>T, XM_005269789.1:c.2174C>T, XM_011539785.3:c.2171C>T, XM_011539785.2:c.2171C>T, XM_011539785.1:c.2171C>T, XM_005269792.3:c.2249C>T, XM_005269792.2:c.2249C>T, XM_005269792.1:c.2249C>T, XM_005269796.3:c.2162C>T, XM_017016222.3:c.2162C>T, XM_017016222.2:c.2162C>T, XM_017016222.1:c.2162C>T, XM_017016209.3:c.2468C>T, XM_017016209.2:c.2468C>T, XM_017016209.1:c.2468C>T, XM_011539774.3:c.2393C>T, XM_011539774.2:c.2393C>T, XM_011539774.1:c.2393C>T, XM_011539777.3:c.2348C>T, XM_011539777.2:c.2348C>T, XM_011539777.1:c.2348C>T, XM_011539778.3:c.2336C>T, XM_011539778.2:c.2336C>T, XM_011539778.1:c.2336C>T, XM_017016214.3:c.2294C>T, XM_017016214.2:c.2294C>T, XM_017016214.1:c.2294C>T, XM_011539782.3:c.2294C>T, XM_011539782.2:c.2294C>T, XM_011539782.1:c.2294C>T, XM_011539783.3:c.2261C>T, XM_011539783.2:c.2261C>T, XM_011539783.1:c.2261C>T, XM_006717826.3:c.2162C>T, XM_006717826.2:c.2162C>T, XM_006717826.1:c.2162C>T, XM_024447986.2:c.1874C>T, XM_024447986.1:c.1874C>T, XM_024447987.2:c.2336C>T, XM_024447987.1:c.2336C>T, XM_024447984.2:c.2336C>T, XM_024447984.1:c.2336C>T, XM_017016217.2:c.2294C>T, XM_017016217.1:c.2294C>T, XM_024447989.2:c.2174C>T, XM_024447989.1:c.2174C>T, XM_024447988.2:c.2174C>T, XM_024447988.1:c.2174C>T, XM_024447990.2:c.2162C>T, XM_024447990.1:c.2162C>T, XM_024447985.2:c.2174C>T, XM_024447985.1:c.2174C>T, XM_047425196.1:c.2381C>T, XM_047425199.1:c.2249C>T, XM_017016223.1:c.1709C>T, XM_047425195.1:c.2306C>T, XM_047425197.1:c.2249C>T, XM_047425200.1:c.1661C>T, NP_002238.2:p.Pro721Leu, NP_001014797.1:p.Pro725Leu, NP_001309759.1:p.Pro728Leu, NP_001309764.1:p.Pro725Leu, NP_001309767.1:p.Pro570Leu, NP_001309758.1:p.Pro724Leu, NP_001309761.1:p.Pro721Leu, NP_001258447.1:p.Pro671Leu, NP_001154824.1:p.Pro779Leu, NP_001154825.1:p.Pro721Leu, NP_001309766.1:p.Pro725Leu, NP_001258448.1:p.Pro724Leu, NP_001309765.1:p.Pro724Leu, XP_005269833.1:p.Pro721Leu, XP_005269844.1:p.Pro721Leu, XP_011538083.1:p.Pro769Leu, XP_016871696.1:p.Pro827Leu, XP_016871697.1:p.Pro827Leu, XP_011538075.1:p.Pro827Leu, XP_016871699.1:p.Pro827Leu, XP_011538077.1:p.Pro823Leu, XP_016871700.1:p.Pro798Leu, XP_016871702.1:p.Pro794Leu, XP_011538082.1:p.Pro783Leu, XP_005269835.1:p.Pro783Leu, XP_005269838.1:p.Pro779Leu, XP_005269846.1:p.Pro725Leu, XP_011538087.1:p.Pro724Leu, XP_005269849.1:p.Pro750Leu, XP_005269853.1:p.Pro721Leu, XP_016871711.2:p.Pro721Leu, XP_016871698.1:p.Pro823Leu, XP_011538076.1:p.Pro798Leu, XP_011538079.1:p.Pro783Leu, XP_011538080.1:p.Pro779Leu, XP_016871703.1:p.Pro765Leu, XP_011538084.1:p.Pro765Leu, XP_011538085.1:p.Pro754Leu, XP_006717889.1:p.Pro721Leu, XP_024303754.1:p.Pro625Leu, XP_024303755.1:p.Pro779Leu, XP_024303752.1:p.Pro779Leu, XP_016871706.1:p.Pro765Leu, XP_024303757.1:p.Pro725Leu, XP_024303756.1:p.Pro725Leu, XP_024303758.1:p.Pro721Leu, XP_024303753.1:p.Pro725Leu, XP_047281152.1:p.Pro794Leu, XP_047281155.1:p.Pro750Leu, XP_016871712.1:p.Pro570Leu, XP_047281151.1:p.Pro769Leu, XP_047281153.1:p.Pro750Leu, XP_047281156.1:p.Pro554Leu

                              15.

                              rs1480799982 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:77086502 (GRCh38)
                                10:78846260 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:77086501:G:C
                                Gene:
                                KCNMA1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.77086502G>C, NC_000010.10:g.78846260G>C, NG_012270.1:g.556318C>G, NM_002247.4:c.1426C>G, NM_002247.3:c.1426C>G, NM_001014797.3:c.1426C>G, NM_001014797.2:c.1426C>G, NM_001322830.2:c.1426C>G, NM_001322830.1:c.1426C>G, NM_001322835.2:c.1426C>G, NM_001322835.1:c.1426C>G, NM_001322838.2:c.886C>G, NM_001322838.1:c.886C>G, NM_001322829.2:c.1426C>G, NM_001322829.1:c.1426C>G, NM_001322832.2:c.1426C>G, NM_001322832.1:c.1426C>G, NM_001271518.2:c.1264C>G, NM_001271518.1:c.1264C>G, NM_001161352.2:c.1426C>G, NM_001161352.1:c.1426C>G, NM_001161353.2:c.1426C>G, NM_001161353.1:c.1426C>G, NM_001322837.2:c.1426C>G, NM_001322837.1:c.1426C>G, NM_001271519.2:c.1426C>G, NM_001271519.1:c.1426C>G, NM_001322836.2:c.1426C>G, NM_001322836.1:c.1426C>G, NM_001410940.1:c.1426C>G, XM_005269776.5:c.1426C>G, XM_005269776.4:c.1426C>G, XM_005269776.3:c.1426C>G, XM_005269776.2:c.1426C>G, XM_005269776.1:c.1426C>G, XM_005269787.5:c.1426C>G, XM_005269787.4:c.1426C>G, XM_005269787.3:c.1426C>G, XM_005269787.2:c.1426C>G, XM_005269787.1:c.1426C>G, XM_011539781.4:c.1558C>G, XM_011539781.3:c.1558C>G, XM_011539781.2:c.1558C>G, XM_011539781.1:c.1558C>G, XM_017016207.3:c.1558C>G, XM_017016207.2:c.1558C>G, XM_017016207.1:c.1558C>G, XM_017016208.3:c.1558C>G, XM_017016208.2:c.1558C>G, XM_017016208.1:c.1558C>G, XM_011539773.3:c.1558C>G, XM_011539773.2:c.1558C>G, XM_011539773.1:c.1558C>G, XM_017016210.3:c.1558C>G, XM_017016210.2:c.1558C>G, XM_017016210.1:c.1558C>G, XM_011539775.3:c.1558C>G, XM_011539775.2:c.1558C>G, XM_011539775.1:c.1558C>G, XM_017016211.3:c.1558C>G, XM_017016211.2:c.1558C>G, XM_017016211.1:c.1558C>G, XM_017016213.3:c.1558C>G, XM_017016213.2:c.1558C>G, XM_017016213.1:c.1558C>G, XM_011539780.3:c.1426C>G, XM_011539780.2:c.1426C>G, XM_011539780.1:c.1426C>G, XM_005269778.3:c.1426C>G, XM_005269778.2:c.1426C>G, XM_005269778.1:c.1426C>G, XM_005269781.3:c.1426C>G, XM_005269781.2:c.1426C>G, XM_005269781.1:c.1426C>G, XM_005269789.3:c.1426C>G, XM_005269789.2:c.1426C>G, XM_005269789.1:c.1426C>G, XM_011539785.3:c.1426C>G, XM_011539785.2:c.1426C>G, XM_011539785.1:c.1426C>G, XM_005269792.3:c.1426C>G, XM_005269792.2:c.1426C>G, XM_005269792.1:c.1426C>G, XM_005269796.3:c.1426C>G, XM_017016222.3:c.1426C>G, XM_017016222.2:c.1426C>G, XM_017016222.1:c.1426C>G, XM_017016219.3:c.1558C>G, XM_017016219.2:c.1558C>G, XM_017016219.1:c.1558C>G, XM_017016209.3:c.1558C>G, XM_017016209.2:c.1558C>G, XM_017016209.1:c.1558C>G, XM_011539774.3:c.1558C>G, XM_011539774.2:c.1558C>G, XM_011539774.1:c.1558C>G, XM_011539777.3:c.1426C>G, XM_011539777.2:c.1426C>G, XM_011539777.1:c.1426C>G, XM_011539778.3:c.1426C>G, XM_011539778.2:c.1426C>G, XM_011539778.1:c.1426C>G, XM_017016214.3:c.1558C>G, XM_017016214.2:c.1558C>G, XM_017016214.1:c.1558C>G, XM_011539782.3:c.1558C>G, XM_011539782.2:c.1558C>G, XM_011539782.1:c.1558C>G, XM_011539783.3:c.1426C>G, XM_011539783.2:c.1426C>G, XM_011539783.1:c.1426C>G, XM_006717826.3:c.1426C>G, XM_006717826.2:c.1426C>G, XM_006717826.1:c.1426C>G, XM_011539784.3:c.1558C>G, XM_011539784.2:c.1558C>G, XM_011539784.1:c.1558C>G, XM_024447986.2:c.952C>G, XM_024447986.1:c.952C>G, XM_024447987.2:c.1426C>G, XM_024447987.1:c.1426C>G, XM_024447984.2:c.1426C>G, XM_024447984.1:c.1426C>G, XM_017016217.2:c.1558C>G, XM_017016217.1:c.1558C>G, XM_024447989.2:c.1426C>G, XM_024447989.1:c.1426C>G, XM_024447988.2:c.1426C>G, XM_024447988.1:c.1426C>G, XM_024447990.2:c.1426C>G, XM_024447990.1:c.1426C>G, XM_024447985.2:c.1426C>G, XM_024447985.1:c.1426C>G, XM_047425196.1:c.1558C>G, XM_047425199.1:c.1426C>G, XM_017016223.1:c.886C>G, XM_047425195.1:c.1558C>G, XM_047425197.1:c.1426C>G, XM_047425200.1:c.925C>G, XM_047425201.1:c.1426C>G, NP_002238.2:p.Leu476Val, NP_001014797.1:p.Leu476Val, NP_001309759.1:p.Leu476Val, NP_001309764.1:p.Leu476Val, NP_001309767.1:p.Leu296Val, NP_001309758.1:p.Leu476Val, NP_001309761.1:p.Leu476Val, NP_001258447.1:p.Leu422Val, NP_001154824.1:p.Leu476Val, NP_001154825.1:p.Leu476Val, NP_001309766.1:p.Leu476Val, NP_001258448.1:p.Leu476Val, NP_001309765.1:p.Leu476Val, XP_005269833.1:p.Leu476Val, XP_005269844.1:p.Leu476Val, XP_011538083.1:p.Leu520Val, XP_016871696.1:p.Leu520Val, XP_016871697.1:p.Leu520Val, XP_011538075.1:p.Leu520Val, XP_016871699.1:p.Leu520Val, XP_011538077.1:p.Leu520Val, XP_016871700.1:p.Leu520Val, XP_016871702.1:p.Leu520Val, XP_011538082.1:p.Leu476Val, XP_005269835.1:p.Leu476Val, XP_005269838.1:p.Leu476Val, XP_005269846.1:p.Leu476Val, XP_011538087.1:p.Leu476Val, XP_005269849.1:p.Leu476Val, XP_005269853.1:p.Leu476Val, XP_016871711.2:p.Leu476Val, XP_016871708.1:p.Leu520Val, XP_016871698.1:p.Leu520Val, XP_011538076.1:p.Leu520Val, XP_011538079.1:p.Leu476Val, XP_011538080.1:p.Leu476Val, XP_016871703.1:p.Leu520Val, XP_011538084.1:p.Leu520Val, XP_011538085.1:p.Leu476Val, XP_006717889.1:p.Leu476Val, XP_011538086.1:p.Leu520Val, XP_024303754.1:p.Leu318Val, XP_024303755.1:p.Leu476Val, XP_024303752.1:p.Leu476Val, XP_016871706.1:p.Leu520Val, XP_024303757.1:p.Leu476Val, XP_024303756.1:p.Leu476Val, XP_024303758.1:p.Leu476Val, XP_024303753.1:p.Leu476Val, XP_047281152.1:p.Leu520Val, XP_047281155.1:p.Leu476Val, XP_016871712.1:p.Leu296Val, XP_047281151.1:p.Leu520Val, XP_047281153.1:p.Leu476Val, XP_047281156.1:p.Leu309Val, XP_047281157.1:p.Leu476Val

                                16.

                                rs1480342842 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:76949151 (GRCh38)
                                  10:78708909 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:76949150:G:A
                                  Gene:
                                  KCNMA1 (Varview), KCNMA1-AS1 (Varview), LOC124902466 (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.76949151G>A, NC_000010.10:g.78708909G>A, NG_012270.1:g.693669C>T, NM_002247.4:c.2526C>T, NM_002247.3:c.2526C>T, NM_001014797.3:c.2538C>T, NM_001014797.2:c.2538C>T, NM_001322830.2:c.2547C>T, NM_001322830.1:c.2547C>T, NM_001322835.2:c.2538C>T, NM_001322835.1:c.2538C>T, NM_001322838.2:c.2073C>T, NM_001322838.1:c.2073C>T, NM_001322829.2:c.2535C>T, NM_001322829.1:c.2535C>T, NM_001322832.2:c.2526C>T, NM_001322832.1:c.2526C>T, NM_001271518.2:c.2376C>T, NM_001271518.1:c.2376C>T, NM_001161352.2:c.2700C>T, NM_001161352.1:c.2700C>T, NM_001161353.2:c.2649C>T, NM_001161353.1:c.2649C>T, NM_001322837.2:c.2538C>T, NM_001322837.1:c.2538C>T, NM_001271519.2:c.2535C>T, NM_001271519.1:c.2535C>T, NM_001322836.2:c.2535C>T, NM_001322836.1:c.2535C>T, NM_001410940.1:c.2526C>T, XM_005269776.5:c.2526C>T, XM_005269776.4:c.2526C>T, XM_005269776.3:c.2526C>T, XM_005269776.2:c.2526C>T, XM_005269776.1:c.2526C>T, XM_005269787.5:c.2526C>T, XM_005269787.4:c.2526C>T, XM_005269787.3:c.2526C>T, XM_005269787.2:c.2526C>T, XM_005269787.1:c.2526C>T, XM_011539781.4:c.2670C>T, XM_011539781.3:c.2670C>T, XM_011539781.2:c.2670C>T, XM_011539781.1:c.2670C>T, XM_017016207.3:c.2844C>T, XM_017016207.2:c.2844C>T, XM_017016207.1:c.2844C>T, XM_017016208.3:c.2844C>T, XM_017016208.2:c.2844C>T, XM_017016208.1:c.2844C>T, XM_011539773.3:c.2844C>T, XM_011539773.2:c.2844C>T, XM_011539773.1:c.2844C>T, XM_017016210.3:c.2844C>T, XM_017016210.2:c.2844C>T, XM_017016210.1:c.2844C>T, XM_011539775.3:c.2832C>T, XM_011539775.2:c.2832C>T, XM_011539775.1:c.2832C>T, XM_017016211.3:c.2757C>T, XM_017016211.2:c.2757C>T, XM_017016211.1:c.2757C>T, XM_017016213.3:c.2745C>T, XM_017016213.2:c.2745C>T, XM_017016213.1:c.2745C>T, XM_011539780.3:c.2712C>T, XM_011539780.2:c.2712C>T, XM_011539780.1:c.2712C>T, XM_005269778.3:c.2712C>T, XM_005269778.2:c.2712C>T, XM_005269778.1:c.2712C>T, XM_005269781.3:c.2700C>T, XM_005269781.2:c.2700C>T, XM_005269781.1:c.2700C>T, XM_005269789.3:c.2538C>T, XM_005269789.2:c.2538C>T, XM_005269789.1:c.2538C>T, XM_011539785.3:c.2535C>T, XM_011539785.2:c.2535C>T, XM_011539785.1:c.2535C>T, XM_005269792.3:c.2613C>T, XM_005269792.2:c.2613C>T, XM_005269792.1:c.2613C>T, XM_005269796.3:c.2526C>T, XM_017016222.3:c.2526C>T, XM_017016222.2:c.2526C>T, XM_017016222.1:c.2526C>T, XM_017016209.3:c.2832C>T, XM_017016209.2:c.2832C>T, XM_017016209.1:c.2832C>T, XM_011539774.3:c.2757C>T, XM_011539774.2:c.2757C>T, XM_011539774.1:c.2757C>T, XM_011539777.3:c.2712C>T, XM_011539777.2:c.2712C>T, XM_011539777.1:c.2712C>T, XM_011539778.3:c.2700C>T, XM_011539778.2:c.2700C>T, XM_011539778.1:c.2700C>T, XM_017016214.3:c.2658C>T, XM_017016214.2:c.2658C>T, XM_017016214.1:c.2658C>T, XM_011539782.3:c.2658C>T, XM_011539782.2:c.2658C>T, XM_011539782.1:c.2658C>T, XM_011539783.3:c.2625C>T, XM_011539783.2:c.2625C>T, XM_011539783.1:c.2625C>T, XM_006717826.3:c.2526C>T, XM_006717826.2:c.2526C>T, XM_006717826.1:c.2526C>T, XM_024447986.2:c.2238C>T, XM_024447986.1:c.2238C>T, XM_024447987.2:c.2700C>T, XM_024447987.1:c.2700C>T, XM_024447984.2:c.2700C>T, XM_024447984.1:c.2700C>T, XM_017016217.2:c.2658C>T, XM_017016217.1:c.2658C>T, XM_024447989.2:c.2538C>T, XM_024447989.1:c.2538C>T, XM_024447988.2:c.2538C>T, XM_024447988.1:c.2538C>T, XM_024447990.2:c.2526C>T, XM_024447990.1:c.2526C>T, XM_024447985.2:c.2538C>T, XM_024447985.1:c.2538C>T, XM_047425196.1:c.2745C>T, XM_047425199.1:c.2613C>T, XM_017016223.1:c.2073C>T, XM_047425195.1:c.2670C>T, XM_047425197.1:c.2613C>T, XM_047425200.1:c.2025C>T, XR_007062207.1:n.566G>A

                                  17.

                                  rs1476399505 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    10:76887358 (GRCh38)
                                    10:78647116 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:76887357:G:A,NC_000010.11:76887357:G:T
                                    Gene:
                                    KCNMA1 (Varview), KCNMA1-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.76887358G>A, NC_000010.11:g.76887358G>T, NC_000010.10:g.78647116G>A, NC_000010.10:g.78647116G>T, NG_012270.1:g.755462C>T, NG_012270.1:g.755462C>A, NM_002247.4:c.3445C>T, NM_002247.4:c.3445C>A, NM_002247.3:c.3445C>T, NM_002247.3:c.3445C>A, NM_001014797.3:c.3457C>T, NM_001014797.3:c.3457C>A, NM_001014797.2:c.3457C>T, NM_001014797.2:c.3457C>A, NM_001322830.2:c.3547C>T, NM_001322830.2:c.3547C>A, NM_001322830.1:c.3547C>T, NM_001322830.1:c.3547C>A, NM_001322835.2:c.3538C>T, NM_001322835.2:c.3538C>A, NM_001322835.1:c.3538C>T, NM_001322835.1:c.3538C>A, NM_001322838.2:c.2992C>T, NM_001322838.2:c.2992C>A, NM_001322838.1:c.2992C>T, NM_001322838.1:c.2992C>A, NM_001322829.2:c.3454C>T, NM_001322829.2:c.3454C>A, NM_001322829.1:c.3454C>T, NM_001322829.1:c.3454C>A, NM_001322832.2:c.3445C>T, NM_001322832.2:c.3445C>A, NM_001322832.1:c.3445C>T, NM_001322832.1:c.3445C>A, NM_001271518.2:c.3295C>T, NM_001271518.2:c.3295C>A, NM_001271518.1:c.3295C>T, NM_001271518.1:c.3295C>A, NM_001161352.2:c.3619C>T, NM_001161352.2:c.3619C>A, NM_001161352.1:c.3619C>T, NM_001161352.1:c.3619C>A, NM_001161353.2:c.3568C>T, NM_001161353.2:c.3568C>A, NM_001161353.1:c.3568C>T, NM_001161353.1:c.3568C>A, NM_001322837.2:c.3538C>T, NM_001322837.2:c.3538C>A, NM_001322837.1:c.3538C>T, NM_001322837.1:c.3538C>A, NM_001271519.2:c.3535C>T, NM_001271519.2:c.3535C>A, NM_001271519.1:c.3535C>T, NM_001271519.1:c.3535C>A, NM_001322836.2:c.3454C>T, NM_001322836.2:c.3454C>A, NM_001322836.1:c.3454C>T, NM_001322836.1:c.3454C>A, NM_001410940.1:c.3445C>T, NM_001410940.1:c.3445C>A, XM_005269776.5:c.3526C>T, XM_005269776.5:c.3526C>A, XM_005269776.4:c.3526C>T, XM_005269776.4:c.3526C>A, XM_005269776.3:c.3526C>T, XM_005269776.3:c.3526C>A, XM_005269776.2:c.3526C>T, XM_005269776.2:c.3526C>A, XM_005269776.1:c.3526C>T, XM_005269776.1:c.3526C>A, XM_005269787.5:c.3445C>T, XM_005269787.5:c.3445C>A, XM_005269787.4:c.3445C>T, XM_005269787.4:c.3445C>A, XM_005269787.3:c.3445C>T, XM_005269787.3:c.3445C>A, XM_005269787.2:c.3445C>T, XM_005269787.2:c.3445C>A, XM_005269787.1:c.3445C>T, XM_005269787.1:c.3445C>A, XM_011539781.4:c.3589C>T, XM_011539781.4:c.3589C>A, XM_011539781.3:c.3589C>T, XM_011539781.3:c.3589C>A, XM_011539781.2:c.3589C>T, XM_011539781.2:c.3589C>A, XM_011539781.1:c.3589C>T, XM_011539781.1:c.3589C>A, XM_017016207.3:c.3844C>T, XM_017016207.3:c.3844C>A, XM_017016207.2:c.3844C>T, XM_017016207.2:c.3844C>A, XM_017016207.1:c.3844C>T, XM_017016207.1:c.3844C>A, XM_017016208.3:c.3844C>T, XM_017016208.3:c.3844C>A, XM_017016208.2:c.3844C>T, XM_017016208.2:c.3844C>A, XM_017016208.1:c.3844C>T, XM_017016208.1:c.3844C>A, XM_011539773.3:c.3763C>T, XM_011539773.3:c.3763C>A, XM_011539773.2:c.3763C>T, XM_011539773.2:c.3763C>A, XM_011539773.1:c.3763C>T, XM_011539773.1:c.3763C>A, XM_017016210.3:c.3763C>T, XM_017016210.3:c.3763C>A, XM_017016210.2:c.3763C>T, XM_017016210.2:c.3763C>A, XM_017016210.1:c.3763C>T, XM_017016210.1:c.3763C>A, XM_011539775.3:c.3751C>T, XM_011539775.3:c.3751C>A, XM_011539775.2:c.3751C>T, XM_011539775.2:c.3751C>A, XM_011539775.1:c.3751C>T, XM_011539775.1:c.3751C>A, XM_017016211.3:c.3676C>T, XM_017016211.3:c.3676C>A, XM_017016211.2:c.3676C>T, XM_017016211.2:c.3676C>A, XM_017016211.1:c.3676C>T, XM_017016211.1:c.3676C>A, XM_017016213.3:c.3664C>T, XM_017016213.3:c.3664C>A, XM_017016213.2:c.3664C>T, XM_017016213.2:c.3664C>A, XM_017016213.1:c.3664C>T, XM_017016213.1:c.3664C>A, XM_011539780.3:c.3631C>T, XM_011539780.3:c.3631C>A, XM_011539780.2:c.3631C>T, XM_011539780.2:c.3631C>A, XM_011539780.1:c.3631C>T, XM_011539780.1:c.3631C>A, XM_005269778.3:c.3631C>T, XM_005269778.3:c.3631C>A, XM_005269778.2:c.3631C>T, XM_005269778.2:c.3631C>A, XM_005269778.1:c.3631C>T, XM_005269778.1:c.3631C>A, XM_005269781.3:c.3619C>T, XM_005269781.3:c.3619C>A, XM_005269781.2:c.3619C>T, XM_005269781.2:c.3619C>A, XM_005269781.1:c.3619C>T, XM_005269781.1:c.3619C>A, XM_005269789.3:c.3538C>T, XM_005269789.3:c.3538C>A, XM_005269789.2:c.3538C>T, XM_005269789.2:c.3538C>A, XM_005269789.1:c.3538C>T, XM_005269789.1:c.3538C>A, XM_011539785.3:c.3535C>T, XM_011539785.3:c.3535C>A, XM_011539785.2:c.3535C>T, XM_011539785.2:c.3535C>A, XM_011539785.1:c.3535C>T, XM_011539785.1:c.3535C>A, XM_005269792.3:c.3532C>T, XM_005269792.3:c.3532C>A, XM_005269792.2:c.3532C>T, XM_005269792.2:c.3532C>A, XM_005269792.1:c.3532C>T, XM_005269792.1:c.3532C>A, XM_005269796.3:c.3445C>T, XM_005269796.3:c.3445C>A, XM_017016222.3:c.3445C>T, XM_017016222.3:c.3445C>A, XM_017016222.2:c.3445C>T, XM_017016222.2:c.3445C>A, XM_017016222.1:c.3445C>T, XM_017016222.1:c.3445C>A, XM_017016209.3:c.3832C>T, XM_017016209.3:c.3832C>A, XM_017016209.2:c.3832C>T, XM_017016209.2:c.3832C>A, XM_017016209.1:c.3832C>T, XM_017016209.1:c.3832C>A, XM_011539774.3:c.3757C>T, XM_011539774.3:c.3757C>A, XM_011539774.2:c.3757C>T, XM_011539774.2:c.3757C>A, XM_011539774.1:c.3757C>T, XM_011539774.1:c.3757C>A, XM_011539777.3:c.3712C>T, XM_011539777.3:c.3712C>A, XM_011539777.2:c.3712C>T, XM_011539777.2:c.3712C>A, XM_011539777.1:c.3712C>T, XM_011539777.1:c.3712C>A, XM_011539778.3:c.3700C>T, XM_011539778.3:c.3700C>A, XM_011539778.2:c.3700C>T, XM_011539778.2:c.3700C>A, XM_011539778.1:c.3700C>T, XM_011539778.1:c.3700C>A, XM_017016214.3:c.3658C>T, XM_017016214.3:c.3658C>A, XM_017016214.2:c.3658C>T, XM_017016214.2:c.3658C>A, XM_017016214.1:c.3658C>T, XM_017016214.1:c.3658C>A, XM_011539782.3:c.3577C>T, XM_011539782.3:c.3577C>A, XM_011539782.2:c.3577C>T, XM_011539782.2:c.3577C>A, XM_011539782.1:c.3577C>T, XM_011539782.1:c.3577C>A, XM_011539783.3:c.3544C>T, XM_011539783.3:c.3544C>A, XM_011539783.2:c.3544C>T, XM_011539783.2:c.3544C>A, XM_011539783.1:c.3544C>T, XM_011539783.1:c.3544C>A, XM_006717826.3:c.3526C>T, XM_006717826.3:c.3526C>A, XM_006717826.2:c.3526C>T, XM_006717826.2:c.3526C>A, XM_006717826.1:c.3526C>T, XM_006717826.1:c.3526C>A, XM_024447986.2:c.3238C>T, XM_024447986.2:c.3238C>A, XM_024447986.1:c.3238C>T, XM_024447986.1:c.3238C>A, XM_024447987.2:c.3619C>T, XM_024447987.2:c.3619C>A, XM_024447987.1:c.3619C>T, XM_024447987.1:c.3619C>A, XM_024447984.2:c.3619C>T, XM_024447984.2:c.3619C>A, XM_024447984.1:c.3619C>T, XM_024447984.1:c.3619C>A, XM_017016217.2:c.3577C>T, XM_017016217.2:c.3577C>A, XM_017016217.1:c.3577C>T, XM_017016217.1:c.3577C>A, XM_024447989.2:c.3457C>T, XM_024447989.2:c.3457C>A, XM_024447989.1:c.3457C>T, XM_024447989.1:c.3457C>A, XM_024447988.2:c.3457C>T, XM_024447988.2:c.3457C>A, XM_024447988.1:c.3457C>T, XM_024447988.1:c.3457C>A, XM_024447990.2:c.3445C>T, XM_024447990.2:c.3445C>A, XM_024447990.1:c.3445C>T, XM_024447990.1:c.3445C>A, XM_024447985.2:c.3457C>T, XM_024447985.2:c.3457C>A, XM_024447985.1:c.3457C>T, XM_024447985.1:c.3457C>A, XM_047425196.1:c.3664C>T, XM_047425196.1:c.3664C>A, XM_047425199.1:c.3532C>T, XM_047425199.1:c.3532C>A, XM_017016223.1:c.2992C>T, XM_017016223.1:c.2992C>A, XM_047425195.1:c.3670C>T, XM_047425195.1:c.3670C>A, XM_047425197.1:c.3613C>T, XM_047425197.1:c.3613C>A, XM_047425200.1:c.2944C>T, XM_047425200.1:c.2944C>A, NP_002238.2:p.His1149Tyr, NP_002238.2:p.His1149Asn, NP_001014797.1:p.His1153Tyr, NP_001014797.1:p.His1153Asn, NP_001309759.1:p.His1183Tyr, NP_001309759.1:p.His1183Asn, NP_001309764.1:p.His1180Tyr, NP_001309764.1:p.His1180Asn, NP_001309767.1:p.His998Tyr, NP_001309767.1:p.His998Asn, NP_001309758.1:p.His1152Tyr, NP_001309758.1:p.His1152Asn, NP_001309761.1:p.His1149Tyr, NP_001309761.1:p.His1149Asn, NP_001258447.1:p.His1099Tyr, NP_001258447.1:p.His1099Asn, NP_001154824.1:p.His1207Tyr, NP_001154824.1:p.His1207Asn, NP_001154825.1:p.His1190Tyr, NP_001154825.1:p.His1190Asn, NP_001309766.1:p.His1180Tyr, NP_001309766.1:p.His1180Asn, NP_001258448.1:p.His1179Tyr, NP_001258448.1:p.His1179Asn, NP_001309765.1:p.His1152Tyr, NP_001309765.1:p.His1152Asn, XP_005269833.1:p.His1176Tyr, XP_005269833.1:p.His1176Asn, XP_005269844.1:p.His1149Tyr, XP_005269844.1:p.His1149Asn, XP_011538083.1:p.His1197Tyr, XP_011538083.1:p.His1197Asn, XP_016871696.1:p.His1282Tyr, XP_016871696.1:p.His1282Asn, XP_016871697.1:p.His1282Tyr, XP_016871697.1:p.His1282Asn, XP_011538075.1:p.His1255Tyr, XP_011538075.1:p.His1255Asn, XP_016871699.1:p.His1255Tyr, XP_016871699.1:p.His1255Asn, XP_011538077.1:p.His1251Tyr, XP_011538077.1:p.His1251Asn, XP_016871700.1:p.His1226Tyr, XP_016871700.1:p.His1226Asn, XP_016871702.1:p.His1222Tyr, XP_016871702.1:p.His1222Asn, XP_011538082.1:p.His1211Tyr, XP_011538082.1:p.His1211Asn, XP_005269835.1:p.His1211Tyr, XP_005269835.1:p.His1211Asn, XP_005269838.1:p.His1207Tyr, XP_005269838.1:p.His1207Asn, XP_005269846.1:p.His1180Tyr, XP_005269846.1:p.His1180Asn, XP_011538087.1:p.His1179Tyr, XP_011538087.1:p.His1179Asn, XP_005269849.1:p.His1178Tyr, XP_005269849.1:p.His1178Asn, XP_005269853.1:p.His1149Tyr, XP_005269853.1:p.His1149Asn, XP_016871711.2:p.His1149Tyr, XP_016871711.2:p.His1149Asn, XP_016871698.1:p.His1278Tyr, XP_016871698.1:p.His1278Asn, XP_011538076.1:p.His1253Tyr, XP_011538076.1:p.His1253Asn, XP_011538079.1:p.His1238Tyr, XP_011538079.1:p.His1238Asn, XP_011538080.1:p.His1234Tyr, XP_011538080.1:p.His1234Asn, XP_016871703.1:p.His1220Tyr, XP_016871703.1:p.His1220Asn, XP_011538084.1:p.His1193Tyr, XP_011538084.1:p.His1193Asn, XP_011538085.1:p.His1182Tyr, XP_011538085.1:p.His1182Asn, XP_006717889.1:p.His1176Tyr, XP_006717889.1:p.His1176Asn, XP_024303754.1:p.His1080Tyr, XP_024303754.1:p.His1080Asn, XP_024303755.1:p.His1207Tyr, XP_024303755.1:p.His1207Asn, XP_024303752.1:p.His1207Tyr, XP_024303752.1:p.His1207Asn, XP_016871706.1:p.His1193Tyr, XP_016871706.1:p.His1193Asn, XP_024303757.1:p.His1153Tyr, XP_024303757.1:p.His1153Asn, XP_024303756.1:p.His1153Tyr, XP_024303756.1:p.His1153Asn, XP_024303758.1:p.His1149Tyr, XP_024303758.1:p.His1149Asn, XP_024303753.1:p.His1153Tyr, XP_024303753.1:p.His1153Asn, XP_047281152.1:p.His1222Tyr, XP_047281152.1:p.His1222Asn, XP_047281155.1:p.His1178Tyr, XP_047281155.1:p.His1178Asn, XP_016871712.1:p.His998Tyr, XP_016871712.1:p.His998Asn, XP_047281151.1:p.His1224Tyr, XP_047281151.1:p.His1224Asn, XP_047281153.1:p.His1205Tyr, XP_047281153.1:p.His1205Asn, XP_047281156.1:p.His982Tyr, XP_047281156.1:p.His982Asn

                                    18.

                                    rs1476175255 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      10:77184896 (GRCh38)
                                      10:78944654 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:77184895:T:A
                                      Gene:
                                      KCNMA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.77184896T>A, NC_000010.10:g.78944654T>A, NG_012270.1:g.457924A>T, NM_002247.4:c.623A>T, NM_002247.3:c.623A>T, NM_001014797.3:c.623A>T, NM_001014797.2:c.623A>T, NM_001322830.2:c.623A>T, NM_001322830.1:c.623A>T, NM_001322835.2:c.623A>T, NM_001322835.1:c.623A>T, NM_001322838.2:c.83A>T, NM_001322838.1:c.83A>T, NM_001322829.2:c.623A>T, NM_001322829.1:c.623A>T, NM_001322832.2:c.623A>T, NM_001322832.1:c.623A>T, NM_001271518.2:c.461A>T, NM_001271518.1:c.461A>T, NM_001161352.2:c.623A>T, NM_001161352.1:c.623A>T, NM_001161353.2:c.623A>T, NM_001161353.1:c.623A>T, NM_001322837.2:c.623A>T, NM_001322837.1:c.623A>T, NM_001271519.2:c.623A>T, NM_001271519.1:c.623A>T, NM_001322836.2:c.623A>T, NM_001322836.1:c.623A>T, NM_001410940.1:c.623A>T, XM_005269776.5:c.623A>T, XM_005269776.4:c.623A>T, XM_005269776.3:c.623A>T, XM_005269776.2:c.623A>T, XM_005269776.1:c.623A>T, XM_005269787.5:c.623A>T, XM_005269787.4:c.623A>T, XM_005269787.3:c.623A>T, XM_005269787.2:c.623A>T, XM_005269787.1:c.623A>T, XM_011539781.4:c.755A>T, XM_011539781.3:c.755A>T, XM_011539781.2:c.755A>T, XM_011539781.1:c.755A>T, XM_017016207.3:c.755A>T, XM_017016207.2:c.755A>T, XM_017016207.1:c.755A>T, XM_017016208.3:c.755A>T, XM_017016208.2:c.755A>T, XM_017016208.1:c.755A>T, XM_011539773.3:c.755A>T, XM_011539773.2:c.755A>T, XM_011539773.1:c.755A>T, XM_017016210.3:c.755A>T, XM_017016210.2:c.755A>T, XM_017016210.1:c.755A>T, XM_011539775.3:c.755A>T, XM_011539775.2:c.755A>T, XM_011539775.1:c.755A>T, XM_017016211.3:c.755A>T, XM_017016211.2:c.755A>T, XM_017016211.1:c.755A>T, XM_017016213.3:c.755A>T, XM_017016213.2:c.755A>T, XM_017016213.1:c.755A>T, XM_011539780.3:c.623A>T, XM_011539780.2:c.623A>T, XM_011539780.1:c.623A>T, XM_005269778.3:c.623A>T, XM_005269778.2:c.623A>T, XM_005269778.1:c.623A>T, XM_005269781.3:c.623A>T, XM_005269781.2:c.623A>T, XM_005269781.1:c.623A>T, XM_005269789.3:c.623A>T, XM_005269789.2:c.623A>T, XM_005269789.1:c.623A>T, XM_011539785.3:c.623A>T, XM_011539785.2:c.623A>T, XM_011539785.1:c.623A>T, XM_005269792.3:c.623A>T, XM_005269792.2:c.623A>T, XM_005269792.1:c.623A>T, XM_005269796.3:c.623A>T, XM_017016222.3:c.623A>T, XM_017016222.2:c.623A>T, XM_017016222.1:c.623A>T, XM_017016219.3:c.755A>T, XM_017016219.2:c.755A>T, XM_017016219.1:c.755A>T, XM_017016209.3:c.755A>T, XM_017016209.2:c.755A>T, XM_017016209.1:c.755A>T, XM_011539774.3:c.755A>T, XM_011539774.2:c.755A>T, XM_011539774.1:c.755A>T, XM_011539777.3:c.623A>T, XM_011539777.2:c.623A>T, XM_011539777.1:c.623A>T, XM_011539778.3:c.623A>T, XM_011539778.2:c.623A>T, XM_011539778.1:c.623A>T, XM_017016214.3:c.755A>T, XM_017016214.2:c.755A>T, XM_017016214.1:c.755A>T, XM_011539782.3:c.755A>T, XM_011539782.2:c.755A>T, XM_011539782.1:c.755A>T, XM_011539783.3:c.623A>T, XM_011539783.2:c.623A>T, XM_011539783.1:c.623A>T, XM_006717826.3:c.623A>T, XM_006717826.2:c.623A>T, XM_006717826.1:c.623A>T, XM_011539784.3:c.755A>T, XM_011539784.2:c.755A>T, XM_011539784.1:c.755A>T, XM_024447986.2:c.149A>T, XM_024447986.1:c.149A>T, XM_024447987.2:c.623A>T, XM_024447987.1:c.623A>T, XM_024447984.2:c.623A>T, XM_024447984.1:c.623A>T, XM_017016217.2:c.755A>T, XM_017016217.1:c.755A>T, XM_024447989.2:c.623A>T, XM_024447989.1:c.623A>T, XM_024447988.2:c.623A>T, XM_024447988.1:c.623A>T, XM_024447990.2:c.623A>T, XM_024447990.1:c.623A>T, XM_024447985.2:c.623A>T, XM_024447985.1:c.623A>T, XM_047425196.1:c.755A>T, XM_047425199.1:c.623A>T, XM_017016223.1:c.83A>T, XM_047425195.1:c.755A>T, XM_047425197.1:c.623A>T, XM_047425200.1:c.122A>T, XM_047425201.1:c.623A>T, NP_002238.2:p.Asn208Ile, NP_001014797.1:p.Asn208Ile, NP_001309759.1:p.Asn208Ile, NP_001309764.1:p.Asn208Ile, NP_001309767.1:p.Asn28Ile, NP_001309758.1:p.Asn208Ile, NP_001309761.1:p.Asn208Ile, NP_001258447.1:p.Asn154Ile, NP_001154824.1:p.Asn208Ile, NP_001154825.1:p.Asn208Ile, NP_001309766.1:p.Asn208Ile, NP_001258448.1:p.Asn208Ile, NP_001309765.1:p.Asn208Ile, XP_005269833.1:p.Asn208Ile, XP_005269844.1:p.Asn208Ile, XP_011538083.1:p.Asn252Ile, XP_016871696.1:p.Asn252Ile, XP_016871697.1:p.Asn252Ile, XP_011538075.1:p.Asn252Ile, XP_016871699.1:p.Asn252Ile, XP_011538077.1:p.Asn252Ile, XP_016871700.1:p.Asn252Ile, XP_016871702.1:p.Asn252Ile, XP_011538082.1:p.Asn208Ile, XP_005269835.1:p.Asn208Ile, XP_005269838.1:p.Asn208Ile, XP_005269846.1:p.Asn208Ile, XP_011538087.1:p.Asn208Ile, XP_005269849.1:p.Asn208Ile, XP_005269853.1:p.Asn208Ile, XP_016871711.2:p.Asn208Ile, XP_016871708.1:p.Asn252Ile, XP_016871698.1:p.Asn252Ile, XP_011538076.1:p.Asn252Ile, XP_011538079.1:p.Asn208Ile, XP_011538080.1:p.Asn208Ile, XP_016871703.1:p.Asn252Ile, XP_011538084.1:p.Asn252Ile, XP_011538085.1:p.Asn208Ile, XP_006717889.1:p.Asn208Ile, XP_011538086.1:p.Asn252Ile, XP_024303754.1:p.Asn50Ile, XP_024303755.1:p.Asn208Ile, XP_024303752.1:p.Asn208Ile, XP_016871706.1:p.Asn252Ile, XP_024303757.1:p.Asn208Ile, XP_024303756.1:p.Asn208Ile, XP_024303758.1:p.Asn208Ile, XP_024303753.1:p.Asn208Ile, XP_047281152.1:p.Asn252Ile, XP_047281155.1:p.Asn208Ile, XP_016871712.1:p.Asn28Ile, XP_047281151.1:p.Asn252Ile, XP_047281153.1:p.Asn208Ile, XP_047281156.1:p.Asn41Ile, XP_047281157.1:p.Asn208Ile

                                      19.

                                      rs1474494103 has merged into rs770298470 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AGAGGA>-,AGAGGAAGAGGA [Show Flanks]
                                        Chromosome:
                                        10:77637505 (GRCh38)
                                        10:79397263 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:77637496:GAAGAGGAAGAGGA:GAAGAGGA,NC_000010.11:77637496:GAAGAGGAAGAGGA:GAAGAGGAAGAGGAAGAGGA
                                        Gene:
                                        KCNMA1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant,inframe_insertion,non_coding_transcript_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GAAGAGGAAGAGGAAGAGGA=0./0 (ALFA)
                                        GAAGAG=0.00001/1 (ExAC)
                                        HGVS:
                                        NC_000010.11:g.77637499AGAGGA[1], NC_000010.11:g.77637499AGAGGA[3], NC_000010.10:g.79397257AGAGGA[1], NC_000010.10:g.79397257AGAGGA[3], NG_012270.1:g.5312CTCTTC[1], NG_012270.1:g.5312CTCTTC[3], NM_002247.4:c.135CTCTTC[1], NM_002247.4:c.135CTCTTC[3], NM_002247.3:c.135CTCTTC[1], NM_002247.3:c.135CTCTTC[3], NM_001014797.3:c.135CTCTTC[1], NM_001014797.3:c.135CTCTTC[3], NM_001014797.2:c.135CTCTTC[1], NM_001014797.2:c.135CTCTTC[3], NM_001322830.2:c.135CTCTTC[1], NM_001322830.2:c.135CTCTTC[3], NM_001322830.1:c.135CTCTTC[1], NM_001322830.1:c.135CTCTTC[3], NM_001322835.2:c.135CTCTTC[1], NM_001322835.2:c.135CTCTTC[3], NM_001322835.1:c.135CTCTTC[1], NM_001322835.1:c.135CTCTTC[3], NM_001322829.2:c.135CTCTTC[1], NM_001322829.2:c.135CTCTTC[3], NM_001322829.1:c.135CTCTTC[1], NM_001322829.1:c.135CTCTTC[3], NM_001322832.2:c.135CTCTTC[1], NM_001322832.2:c.135CTCTTC[3], NM_001322832.1:c.135CTCTTC[1], NM_001322832.1:c.135CTCTTC[3], NM_001271518.2:c.135CTCTTC[1], NM_001271518.2:c.135CTCTTC[3], NM_001271518.1:c.135CTCTTC[1], NM_001271518.1:c.135CTCTTC[3], NM_001161352.2:c.135CTCTTC[1], NM_001161352.2:c.135CTCTTC[3], NM_001161352.1:c.135CTCTTC[1], NM_001161352.1:c.135CTCTTC[3], NM_001161353.2:c.135CTCTTC[1], NM_001161353.2:c.135CTCTTC[3], NM_001161353.1:c.135CTCTTC[1], NM_001161353.1:c.135CTCTTC[3], NM_001322837.2:c.135CTCTTC[1], NM_001322837.2:c.135CTCTTC[3], NM_001322837.1:c.135CTCTTC[1], NM_001322837.1:c.135CTCTTC[3], NM_001271519.2:c.135CTCTTC[1], NM_001271519.2:c.135CTCTTC[3], NM_001271519.1:c.135CTCTTC[1], NM_001271519.1:c.135CTCTTC[3], NM_001322836.2:c.135CTCTTC[1], NM_001322836.2:c.135CTCTTC[3], NM_001322836.1:c.135CTCTTC[1], NM_001322836.1:c.135CTCTTC[3], NM_001271522.2:c.135CTCTTC[1], NM_001271522.2:c.135CTCTTC[3], NM_001271522.1:c.135CTCTTC[1], NM_001271522.1:c.135CTCTTC[3], NM_001271520.2:c.135CTCTTC[1], NM_001271520.2:c.135CTCTTC[3], NM_001271520.1:c.135CTCTTC[1], NM_001271520.1:c.135CTCTTC[3], NM_001322839.2:c.135CTCTTC[1], NM_001322839.2:c.135CTCTTC[3], NM_001322839.1:c.135CTCTTC[1], NM_001322839.1:c.135CTCTTC[3], NM_001271521.2:c.135CTCTTC[1], NM_001271521.2:c.135CTCTTC[3], NM_001271521.1:c.135CTCTTC[1], NM_001271521.1:c.135CTCTTC[3], NM_001410940.1:c.135CTCTTC[1], NM_001410940.1:c.135CTCTTC[3], XM_005269776.5:c.135CTCTTC[1], XM_005269776.5:c.135CTCTTC[3], XM_005269776.4:c.135CTCTTC[1], XM_005269776.4:c.135CTCTTC[3], XM_005269776.3:c.135CTCTTC[1], XM_005269776.3:c.135CTCTTC[3], XM_005269776.2:c.135CTCTTC[1], XM_005269776.2:c.135CTCTTC[3], XM_005269776.1:c.135CTCTTC[1], XM_005269776.1:c.135CTCTTC[3], XM_005269787.5:c.135CTCTTC[1], XM_005269787.5:c.135CTCTTC[3], XM_005269787.4:c.135CTCTTC[1], XM_005269787.4:c.135CTCTTC[3], XM_005269787.3:c.135CTCTTC[1], XM_005269787.3:c.135CTCTTC[3], XM_005269787.2:c.135CTCTTC[1], XM_005269787.2:c.135CTCTTC[3], XM_005269787.1:c.135CTCTTC[1], XM_005269787.1:c.135CTCTTC[3], XM_011539781.4:c.135CTCTTC[1], XM_011539781.4:c.135CTCTTC[3], XM_011539781.3:c.135CTCTTC[1], XM_011539781.3:c.135CTCTTC[3], XM_011539781.2:c.135CTCTTC[1], XM_011539781.2:c.135CTCTTC[3], XM_011539781.1:c.135CTCTTC[1], XM_011539781.1:c.135CTCTTC[3], XM_017016207.3:c.135CTCTTC[1], XM_017016207.3:c.135CTCTTC[3], XM_017016207.2:c.135CTCTTC[1], XM_017016207.2:c.135CTCTTC[3], XM_017016207.1:c.135CTCTTC[1], XM_017016207.1:c.135CTCTTC[3], XM_017016208.3:c.135CTCTTC[1], XM_017016208.3:c.135CTCTTC[3], XM_017016208.2:c.135CTCTTC[1], XM_017016208.2:c.135CTCTTC[3], XM_017016208.1:c.135CTCTTC[1], XM_017016208.1:c.135CTCTTC[3], XM_011539773.3:c.135CTCTTC[1], XM_011539773.3:c.135CTCTTC[3], XM_011539773.2:c.135CTCTTC[1], XM_011539773.2:c.135CTCTTC[3], XM_011539773.1:c.135CTCTTC[1], XM_011539773.1:c.135CTCTTC[3], XM_017016210.3:c.135CTCTTC[1], XM_017016210.3:c.135CTCTTC[3], XM_017016210.2:c.135CTCTTC[1], XM_017016210.2:c.135CTCTTC[3], XM_017016210.1:c.135CTCTTC[1], XM_017016210.1:c.135CTCTTC[3], XM_011539775.3:c.135CTCTTC[1], XM_011539775.3:c.135CTCTTC[3], XM_011539775.2:c.135CTCTTC[1], XM_011539775.2:c.135CTCTTC[3], XM_011539775.1:c.135CTCTTC[1], XM_011539775.1:c.135CTCTTC[3], XM_017016211.3:c.135CTCTTC[1], XM_017016211.3:c.135CTCTTC[3], XM_017016211.2:c.135CTCTTC[1], XM_017016211.2:c.135CTCTTC[3], XM_017016211.1:c.135CTCTTC[1], XM_017016211.1:c.135CTCTTC[3], XM_017016213.3:c.135CTCTTC[1], XM_017016213.3:c.135CTCTTC[3], XM_017016213.2:c.135CTCTTC[1], XM_017016213.2:c.135CTCTTC[3], XM_017016213.1:c.135CTCTTC[1], XM_017016213.1:c.135CTCTTC[3], XM_011539780.3:c.135CTCTTC[1], XM_011539780.3:c.135CTCTTC[3], XM_011539780.2:c.135CTCTTC[1], XM_011539780.2:c.135CTCTTC[3], XM_011539780.1:c.135CTCTTC[1], XM_011539780.1:c.135CTCTTC[3], XM_005269778.3:c.135CTCTTC[1], XM_005269778.3:c.135CTCTTC[3], XM_005269778.2:c.135CTCTTC[1], XM_005269778.2:c.135CTCTTC[3], XM_005269778.1:c.135CTCTTC[1], XM_005269778.1:c.135CTCTTC[3], XM_005269781.3:c.135CTCTTC[1], XM_005269781.3:c.135CTCTTC[3], XM_005269781.2:c.135CTCTTC[1], XM_005269781.2:c.135CTCTTC[3], XM_005269781.1:c.135CTCTTC[1], XM_005269781.1:c.135CTCTTC[3], XM_005269789.3:c.135CTCTTC[1], XM_005269789.3:c.135CTCTTC[3], XM_005269789.2:c.135CTCTTC[1], XM_005269789.2:c.135CTCTTC[3], XM_005269789.1:c.135CTCTTC[1], XM_005269789.1:c.135CTCTTC[3], XM_011539785.3:c.135CTCTTC[1], XM_011539785.3:c.135CTCTTC[3], XM_011539785.2:c.135CTCTTC[1], XM_011539785.2:c.135CTCTTC[3], XM_011539785.1:c.135CTCTTC[1], XM_011539785.1:c.135CTCTTC[3], XM_005269792.3:c.135CTCTTC[1], XM_005269792.3:c.135CTCTTC[3], XM_005269792.2:c.135CTCTTC[1], XM_005269792.2:c.135CTCTTC[3], XM_005269792.1:c.135CTCTTC[1], XM_005269792.1:c.135CTCTTC[3], XM_005269796.3:c.135CTCTTC[1], XM_005269796.3:c.135CTCTTC[3], XM_017016222.3:c.135CTCTTC[1], XM_017016222.3:c.135CTCTTC[3], XM_017016222.2:c.135CTCTTC[1], XM_017016222.2:c.135CTCTTC[3], XM_017016222.1:c.135CTCTTC[1], XM_017016222.1:c.135CTCTTC[3], XM_017016219.3:c.135CTCTTC[1], XM_017016219.3:c.135CTCTTC[3], XM_017016219.2:c.135CTCTTC[1], XM_017016219.2:c.135CTCTTC[3], XM_017016219.1:c.135CTCTTC[1], XM_017016219.1:c.135CTCTTC[3], XM_017016209.3:c.135CTCTTC[1], XM_017016209.3:c.135CTCTTC[3], XM_017016209.2:c.135CTCTTC[1], XM_017016209.2:c.135CTCTTC[3], XM_017016209.1:c.135CTCTTC[1], XM_017016209.1:c.135CTCTTC[3], XM_011539774.3:c.135CTCTTC[1], XM_011539774.3:c.135CTCTTC[3], XM_011539774.2:c.135CTCTTC[1], XM_011539774.2:c.135CTCTTC[3], XM_011539774.1:c.135CTCTTC[1], XM_011539774.1:c.135CTCTTC[3], XM_011539777.3:c.135CTCTTC[1], XM_011539777.3:c.135CTCTTC[3], XM_011539777.2:c.135CTCTTC[1], XM_011539777.2:c.135CTCTTC[3], XM_011539777.1:c.135CTCTTC[1], XM_011539777.1:c.135CTCTTC[3], XM_011539778.3:c.135CTCTTC[1], XM_011539778.3:c.135CTCTTC[3], XM_011539778.2:c.135CTCTTC[1], XM_011539778.2:c.135CTCTTC[3], XM_011539778.1:c.135CTCTTC[1], XM_011539778.1:c.135CTCTTC[3], XM_017016214.3:c.135CTCTTC[1], XM_017016214.3:c.135CTCTTC[3], XM_017016214.2:c.135CTCTTC[1], XM_017016214.2:c.135CTCTTC[3], XM_017016214.1:c.135CTCTTC[1], XM_017016214.1:c.135CTCTTC[3], XM_011539782.3:c.135CTCTTC[1], XM_011539782.3:c.135CTCTTC[3], XM_011539782.2:c.135CTCTTC[1], XM_011539782.2:c.135CTCTTC[3], XM_011539782.1:c.135CTCTTC[1], XM_011539782.1:c.135CTCTTC[3], XM_011539783.3:c.135CTCTTC[1], XM_011539783.3:c.135CTCTTC[3], XM_011539783.2:c.135CTCTTC[1], XM_011539783.2:c.135CTCTTC[3], XM_011539783.1:c.135CTCTTC[1], XM_011539783.1:c.135CTCTTC[3], XM_006717826.3:c.135CTCTTC[1], XM_006717826.3:c.135CTCTTC[3], XM_006717826.2:c.135CTCTTC[1], XM_006717826.2:c.135CTCTTC[3], XM_006717826.1:c.135CTCTTC[1], XM_006717826.1:c.135CTCTTC[3], XM_011539784.3:c.135CTCTTC[1], XM_011539784.3:c.135CTCTTC[3], XM_011539784.2:c.135CTCTTC[1], XM_011539784.2:c.135CTCTTC[3], XM_011539784.1:c.135CTCTTC[1], XM_011539784.1:c.135CTCTTC[3], XM_024447987.2:c.135CTCTTC[1], XM_024447987.2:c.135CTCTTC[3], XM_024447987.1:c.135CTCTTC[1], XM_024447987.1:c.135CTCTTC[3], XM_024447984.2:c.135CTCTTC[1], XM_024447984.2:c.135CTCTTC[3], XM_024447984.1:c.135CTCTTC[1], XM_024447984.1:c.135CTCTTC[3], XM_017016217.2:c.135CTCTTC[1], XM_017016217.2:c.135CTCTTC[3], XM_017016217.1:c.135CTCTTC[1], XM_017016217.1:c.135CTCTTC[3], XM_024447989.2:c.135CTCTTC[1], XM_024447989.2:c.135CTCTTC[3], XM_024447989.1:c.135CTCTTC[1], XM_024447989.1:c.135CTCTTC[3], XM_024447988.2:c.135CTCTTC[1], XM_024447988.2:c.135CTCTTC[3], XM_024447988.1:c.135CTCTTC[1], XM_024447988.1:c.135CTCTTC[3], XM_024447990.2:c.135CTCTTC[1], XM_024447990.2:c.135CTCTTC[3], XM_024447990.1:c.135CTCTTC[1], XM_024447990.1:c.135CTCTTC[3], XM_024447985.2:c.135CTCTTC[1], XM_024447985.2:c.135CTCTTC[3], XM_024447985.1:c.135CTCTTC[1], XM_024447985.1:c.135CTCTTC[3], XM_047425196.1:c.135CTCTTC[1], XM_047425196.1:c.135CTCTTC[3], XM_047425199.1:c.135CTCTTC[1], XM_047425199.1:c.135CTCTTC[3], XM_047425195.1:c.135CTCTTC[1], XM_047425195.1:c.135CTCTTC[3], XM_047425197.1:c.135CTCTTC[1], XM_047425197.1:c.135CTCTTC[3], XM_047425201.1:c.135CTCTTC[1], XM_047425201.1:c.135CTCTTC[3], XR_007061964.1:n.301CTCTTC[1], XR_007061964.1:n.301CTCTTC[3], NP_002238.2:p.Ser59_Ser60del, NP_002238.2:p.Ser59_Ser60dup, NP_001014797.1:p.Ser59_Ser60del, NP_001014797.1:p.Ser59_Ser60dup, NP_001309759.1:p.Ser59_Ser60del, NP_001309759.1:p.Ser59_Ser60dup, NP_001309764.1:p.Ser59_Ser60del, NP_001309764.1:p.Ser59_Ser60dup, NP_001309758.1:p.Ser59_Ser60del, NP_001309758.1:p.Ser59_Ser60dup, NP_001309761.1:p.Ser59_Ser60del, NP_001309761.1:p.Ser59_Ser60dup, NP_001258447.1:p.Ser59_Ser60del, NP_001258447.1:p.Ser59_Ser60dup, NP_001154824.1:p.Ser59_Ser60del, NP_001154824.1:p.Ser59_Ser60dup, NP_001154825.1:p.Ser59_Ser60del, NP_001154825.1:p.Ser59_Ser60dup, NP_001309766.1:p.Ser59_Ser60del, NP_001309766.1:p.Ser59_Ser60dup, NP_001258448.1:p.Ser59_Ser60del, NP_001258448.1:p.Ser59_Ser60dup, NP_001309765.1:p.Ser59_Ser60del, NP_001309765.1:p.Ser59_Ser60dup, NP_001258451.1:p.Ser59_Ser60del, NP_001258451.1:p.Ser59_Ser60dup, NP_001258449.1:p.Ser59_Ser60del, NP_001258449.1:p.Ser59_Ser60dup, NP_001309768.1:p.Ser59_Ser60del, NP_001309768.1:p.Ser59_Ser60dup, NP_001258450.1:p.Ser59_Ser60del, NP_001258450.1:p.Ser59_Ser60dup, XP_005269833.1:p.Ser59_Ser60del, XP_005269833.1:p.Ser59_Ser60dup, XP_005269844.1:p.Ser59_Ser60del, XP_005269844.1:p.Ser59_Ser60dup, XP_011538083.1:p.Ser59_Ser60del, XP_011538083.1:p.Ser59_Ser60dup, XP_016871696.1:p.Ser59_Ser60del, XP_016871696.1:p.Ser59_Ser60dup, XP_016871697.1:p.Ser59_Ser60del, XP_016871697.1:p.Ser59_Ser60dup, XP_011538075.1:p.Ser59_Ser60del, XP_011538075.1:p.Ser59_Ser60dup, XP_016871699.1:p.Ser59_Ser60del, XP_016871699.1:p.Ser59_Ser60dup, XP_011538077.1:p.Ser59_Ser60del, XP_011538077.1:p.Ser59_Ser60dup, XP_016871700.1:p.Ser59_Ser60del, XP_016871700.1:p.Ser59_Ser60dup, XP_016871702.1:p.Ser59_Ser60del, XP_016871702.1:p.Ser59_Ser60dup, XP_011538082.1:p.Ser59_Ser60del, XP_011538082.1:p.Ser59_Ser60dup, XP_005269835.1:p.Ser59_Ser60del, XP_005269835.1:p.Ser59_Ser60dup, XP_005269838.1:p.Ser59_Ser60del, XP_005269838.1:p.Ser59_Ser60dup, XP_005269846.1:p.Ser59_Ser60del, XP_005269846.1:p.Ser59_Ser60dup, XP_011538087.1:p.Ser59_Ser60del, XP_011538087.1:p.Ser59_Ser60dup, XP_005269849.1:p.Ser59_Ser60del, XP_005269849.1:p.Ser59_Ser60dup, XP_005269853.1:p.Ser59_Ser60del, XP_005269853.1:p.Ser59_Ser60dup, XP_016871711.2:p.Ser59_Ser60del, XP_016871711.2:p.Ser59_Ser60dup, XP_016871708.1:p.Ser59_Ser60del, XP_016871708.1:p.Ser59_Ser60dup, XP_016871698.1:p.Ser59_Ser60del, XP_016871698.1:p.Ser59_Ser60dup, XP_011538076.1:p.Ser59_Ser60del, XP_011538076.1:p.Ser59_Ser60dup, XP_011538079.1:p.Ser59_Ser60del, XP_011538079.1:p.Ser59_Ser60dup, XP_011538080.1:p.Ser59_Ser60del, XP_011538080.1:p.Ser59_Ser60dup, XP_016871703.1:p.Ser59_Ser60del, XP_016871703.1:p.Ser59_Ser60dup, XP_011538084.1:p.Ser59_Ser60del, XP_011538084.1:p.Ser59_Ser60dup, XP_011538085.1:p.Ser59_Ser60del, XP_011538085.1:p.Ser59_Ser60dup, XP_006717889.1:p.Ser59_Ser60del, XP_006717889.1:p.Ser59_Ser60dup, XP_011538086.1:p.Ser59_Ser60del, XP_011538086.1:p.Ser59_Ser60dup, XP_024303755.1:p.Ser59_Ser60del, XP_024303755.1:p.Ser59_Ser60dup, XP_024303752.1:p.Ser59_Ser60del, XP_024303752.1:p.Ser59_Ser60dup, XP_016871706.1:p.Ser59_Ser60del, XP_016871706.1:p.Ser59_Ser60dup, XP_024303757.1:p.Ser59_Ser60del, XP_024303757.1:p.Ser59_Ser60dup, XP_024303756.1:p.Ser59_Ser60del, XP_024303756.1:p.Ser59_Ser60dup, XP_024303758.1:p.Ser59_Ser60del, XP_024303758.1:p.Ser59_Ser60dup, XP_024303753.1:p.Ser59_Ser60del, XP_024303753.1:p.Ser59_Ser60dup, XP_047281152.1:p.Ser59_Ser60del, XP_047281152.1:p.Ser59_Ser60dup, XP_047281155.1:p.Ser59_Ser60del, XP_047281155.1:p.Ser59_Ser60dup, XP_047281151.1:p.Ser59_Ser60del, XP_047281151.1:p.Ser59_Ser60dup, XP_047281153.1:p.Ser59_Ser60del, XP_047281153.1:p.Ser59_Ser60dup, XP_047281157.1:p.Ser59_Ser60del, XP_047281157.1:p.Ser59_Ser60dup

                                        20.

                                        rs1471891182 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:76887293 (GRCh38)
                                          10:78647051 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:76887292:C:T
                                          Gene:
                                          KCNMA1 (Varview), KCNMA1-AS1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.0001/1 (ALFA)
                                          HGVS:
                                          NC_000010.11:g.76887293C>T, NC_000010.10:g.78647051C>T, NG_012270.1:g.755527G>A, NM_002247.4:c.3510G>A, NM_002247.3:c.3510G>A, NM_001014797.3:c.3522G>A, NM_001014797.2:c.3522G>A, NM_001322830.2:c.3612G>A, NM_001322830.1:c.3612G>A, NM_001322835.2:c.3603G>A, NM_001322835.1:c.3603G>A, NM_001322838.2:c.3057G>A, NM_001322838.1:c.3057G>A, NM_001322829.2:c.3519G>A, NM_001322829.1:c.3519G>A, NM_001322832.2:c.3510G>A, NM_001322832.1:c.3510G>A, NM_001271518.2:c.3360G>A, NM_001271518.1:c.3360G>A, NM_001161352.2:c.3684G>A, NM_001161352.1:c.3684G>A, NM_001161353.2:c.3633G>A, NM_001161353.1:c.3633G>A, NM_001322837.2:c.3603G>A, NM_001322837.1:c.3603G>A, NM_001271519.2:c.3600G>A, NM_001271519.1:c.3600G>A, NM_001322836.2:c.3519G>A, NM_001322836.1:c.3519G>A, NM_001410940.1:c.3510G>A, XM_005269776.5:c.3591G>A, XM_005269776.4:c.3591G>A, XM_005269776.3:c.3591G>A, XM_005269776.2:c.3591G>A, XM_005269776.1:c.3591G>A, XM_005269787.5:c.3510G>A, XM_005269787.4:c.3510G>A, XM_005269787.3:c.3510G>A, XM_005269787.2:c.3510G>A, XM_005269787.1:c.3510G>A, XM_011539781.4:c.3654G>A, XM_011539781.3:c.3654G>A, XM_011539781.2:c.3654G>A, XM_011539781.1:c.3654G>A, XM_017016207.3:c.3909G>A, XM_017016207.2:c.3909G>A, XM_017016207.1:c.3909G>A, XM_017016208.3:c.3909G>A, XM_017016208.2:c.3909G>A, XM_017016208.1:c.3909G>A, XM_011539773.3:c.3828G>A, XM_011539773.2:c.3828G>A, XM_011539773.1:c.3828G>A, XM_017016210.3:c.3828G>A, XM_017016210.2:c.3828G>A, XM_017016210.1:c.3828G>A, XM_011539775.3:c.3816G>A, XM_011539775.2:c.3816G>A, XM_011539775.1:c.3816G>A, XM_017016211.3:c.3741G>A, XM_017016211.2:c.3741G>A, XM_017016211.1:c.3741G>A, XM_017016213.3:c.3729G>A, XM_017016213.2:c.3729G>A, XM_017016213.1:c.3729G>A, XM_011539780.3:c.3696G>A, XM_011539780.2:c.3696G>A, XM_011539780.1:c.3696G>A, XM_005269778.3:c.3696G>A, XM_005269778.2:c.3696G>A, XM_005269778.1:c.3696G>A, XM_005269781.3:c.3684G>A, XM_005269781.2:c.3684G>A, XM_005269781.1:c.3684G>A, XM_005269789.3:c.3603G>A, XM_005269789.2:c.3603G>A, XM_005269789.1:c.3603G>A, XM_011539785.3:c.3600G>A, XM_011539785.2:c.3600G>A, XM_011539785.1:c.3600G>A, XM_005269792.3:c.3597G>A, XM_005269792.2:c.3597G>A, XM_005269792.1:c.3597G>A, XM_005269796.3:c.3510G>A, XM_017016222.3:c.3510G>A, XM_017016222.2:c.3510G>A, XM_017016222.1:c.3510G>A, XM_017016209.3:c.3897G>A, XM_017016209.2:c.3897G>A, XM_017016209.1:c.3897G>A, XM_011539774.3:c.3822G>A, XM_011539774.2:c.3822G>A, XM_011539774.1:c.3822G>A, XM_011539777.3:c.3777G>A, XM_011539777.2:c.3777G>A, XM_011539777.1:c.3777G>A, XM_011539778.3:c.3765G>A, XM_011539778.2:c.3765G>A, XM_011539778.1:c.3765G>A, XM_017016214.3:c.3723G>A, XM_017016214.2:c.3723G>A, XM_017016214.1:c.3723G>A, XM_011539782.3:c.3642G>A, XM_011539782.2:c.3642G>A, XM_011539782.1:c.3642G>A, XM_011539783.3:c.3609G>A, XM_011539783.2:c.3609G>A, XM_011539783.1:c.3609G>A, XM_006717826.3:c.3591G>A, XM_006717826.2:c.3591G>A, XM_006717826.1:c.3591G>A, XM_024447986.2:c.3303G>A, XM_024447986.1:c.3303G>A, XM_024447987.2:c.3684G>A, XM_024447987.1:c.3684G>A, XM_024447984.2:c.3684G>A, XM_024447984.1:c.3684G>A, XM_017016217.2:c.3642G>A, XM_017016217.1:c.3642G>A, XM_024447989.2:c.3522G>A, XM_024447989.1:c.3522G>A, XM_024447988.2:c.3522G>A, XM_024447988.1:c.3522G>A, XM_024447990.2:c.3510G>A, XM_024447990.1:c.3510G>A, XM_024447985.2:c.3522G>A, XM_024447985.1:c.3522G>A, XM_047425196.1:c.3729G>A, XM_047425199.1:c.3597G>A, XM_017016223.1:c.3057G>A, XM_047425195.1:c.3735G>A, XM_047425197.1:c.3678G>A, XM_047425200.1:c.3009G>A

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