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Items: 1 to 20 of 306

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.

      rs1490117716 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        10:77636941 (GRCh38)
        10:79396699 (GRCh37)
        Canonical SPDI:
        NC_000010.11:77636940:C:A,NC_000010.11:77636940:C:G
        Gene:
        KCNMA1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1486891424 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:77636974 (GRCh38)
          10:79396732 (GRCh37)
          Canonical SPDI:
          NC_000010.11:77636973:C:T
          Gene:
          KCNMA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.0001/14 (GnomAD)
          T=0.000136/36 (TOPMED)
          HGVS:

          5.

          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

            6.

            rs1484312502 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              10:77636363 (GRCh38)
              10:79396121 (GRCh37)
              Canonical SPDI:
              NC_000010.11:77636362:G:A,NC_000010.11:77636362:G:T
              Gene:
              KCNMA1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000007/1 (GnomAD_exomes)
              HGVS:

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      rs1469284538 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        10:77637601 (GRCh38)
                        10:79397359 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:77637600:G:A,NC_000010.11:77637600:G:C
                        Gene:
                        KCNMA1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000094/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000010.11:g.77637601G>A, NC_000010.11:g.77637601G>C, NC_000010.10:g.79397359G>A, NC_000010.10:g.79397359G>C, NG_012270.1:g.5219C>T, NG_012270.1:g.5219C>G, NM_002247.4:c.42C>T, NM_002247.4:c.42C>G, NM_002247.3:c.42C>T, NM_002247.3:c.42C>G, NM_001014797.3:c.42C>T, NM_001014797.3:c.42C>G, NM_001014797.2:c.42C>T, NM_001014797.2:c.42C>G, NM_001322830.2:c.42C>T, NM_001322830.2:c.42C>G, NM_001322830.1:c.42C>T, NM_001322830.1:c.42C>G, NM_001322835.2:c.42C>T, NM_001322835.2:c.42C>G, NM_001322835.1:c.42C>T, NM_001322835.1:c.42C>G, NM_001322829.2:c.42C>T, NM_001322829.2:c.42C>G, NM_001322829.1:c.42C>T, NM_001322829.1:c.42C>G, NM_001322832.2:c.42C>T, NM_001322832.2:c.42C>G, NM_001322832.1:c.42C>T, NM_001322832.1:c.42C>G, NM_001271518.2:c.42C>T, NM_001271518.2:c.42C>G, NM_001271518.1:c.42C>T, NM_001271518.1:c.42C>G, NM_001161352.2:c.42C>T, NM_001161352.2:c.42C>G, NM_001161352.1:c.42C>T, NM_001161352.1:c.42C>G, NM_001161353.2:c.42C>T, NM_001161353.2:c.42C>G, NM_001161353.1:c.42C>T, NM_001161353.1:c.42C>G, NM_001322837.2:c.42C>T, NM_001322837.2:c.42C>G, NM_001322837.1:c.42C>T, NM_001322837.1:c.42C>G, NM_001271519.2:c.42C>T, NM_001271519.2:c.42C>G, NM_001271519.1:c.42C>T, NM_001271519.1:c.42C>G, NM_001322836.2:c.42C>T, NM_001322836.2:c.42C>G, NM_001322836.1:c.42C>T, NM_001322836.1:c.42C>G, NM_001271522.2:c.42C>T, NM_001271522.2:c.42C>G, NM_001271522.1:c.42C>T, NM_001271522.1:c.42C>G, NM_001271520.2:c.42C>T, NM_001271520.2:c.42C>G, NM_001271520.1:c.42C>T, NM_001271520.1:c.42C>G, NM_001322839.2:c.42C>T, NM_001322839.2:c.42C>G, NM_001322839.1:c.42C>T, NM_001322839.1:c.42C>G, NM_001271521.2:c.42C>T, NM_001271521.2:c.42C>G, NM_001271521.1:c.42C>T, NM_001271521.1:c.42C>G, NM_001410940.1:c.42C>T, NM_001410940.1:c.42C>G, XM_005269776.5:c.42C>T, XM_005269776.5:c.42C>G, XM_005269776.4:c.42C>T, XM_005269776.4:c.42C>G, XM_005269776.3:c.42C>T, XM_005269776.3:c.42C>G, XM_005269776.2:c.42C>T, XM_005269776.2:c.42C>G, XM_005269776.1:c.42C>T, XM_005269776.1:c.42C>G, XM_005269787.5:c.42C>T, XM_005269787.5:c.42C>G, XM_005269787.4:c.42C>T, XM_005269787.4:c.42C>G, XM_005269787.3:c.42C>T, XM_005269787.3:c.42C>G, XM_005269787.2:c.42C>T, XM_005269787.2:c.42C>G, XM_005269787.1:c.42C>T, XM_005269787.1:c.42C>G, XM_011539781.4:c.42C>T, XM_011539781.4:c.42C>G, XM_011539781.3:c.42C>T, XM_011539781.3:c.42C>G, XM_011539781.2:c.42C>T, XM_011539781.2:c.42C>G, XM_011539781.1:c.42C>T, XM_011539781.1:c.42C>G, XM_017016207.3:c.42C>T, XM_017016207.3:c.42C>G, XM_017016207.2:c.42C>T, XM_017016207.2:c.42C>G, XM_017016207.1:c.42C>T, XM_017016207.1:c.42C>G, XM_017016208.3:c.42C>T, XM_017016208.3:c.42C>G, XM_017016208.2:c.42C>T, XM_017016208.2:c.42C>G, XM_017016208.1:c.42C>T, XM_017016208.1:c.42C>G, XM_011539773.3:c.42C>T, XM_011539773.3:c.42C>G, XM_011539773.2:c.42C>T, XM_011539773.2:c.42C>G, XM_011539773.1:c.42C>T, XM_011539773.1:c.42C>G, XM_017016210.3:c.42C>T, XM_017016210.3:c.42C>G, XM_017016210.2:c.42C>T, XM_017016210.2:c.42C>G, XM_017016210.1:c.42C>T, XM_017016210.1:c.42C>G, XM_011539775.3:c.42C>T, XM_011539775.3:c.42C>G, XM_011539775.2:c.42C>T, XM_011539775.2:c.42C>G, XM_011539775.1:c.42C>T, XM_011539775.1:c.42C>G, XM_017016211.3:c.42C>T, XM_017016211.3:c.42C>G, XM_017016211.2:c.42C>T, XM_017016211.2:c.42C>G, XM_017016211.1:c.42C>T, XM_017016211.1:c.42C>G, XM_017016213.3:c.42C>T, XM_017016213.3:c.42C>G, XM_017016213.2:c.42C>T, XM_017016213.2:c.42C>G, XM_017016213.1:c.42C>T, XM_017016213.1:c.42C>G, XM_011539780.3:c.42C>T, XM_011539780.3:c.42C>G, XM_011539780.2:c.42C>T, XM_011539780.2:c.42C>G, XM_011539780.1:c.42C>T, XM_011539780.1:c.42C>G, XM_005269778.3:c.42C>T, XM_005269778.3:c.42C>G, XM_005269778.2:c.42C>T, XM_005269778.2:c.42C>G, XM_005269778.1:c.42C>T, XM_005269778.1:c.42C>G, XM_005269781.3:c.42C>T, XM_005269781.3:c.42C>G, XM_005269781.2:c.42C>T, XM_005269781.2:c.42C>G, XM_005269781.1:c.42C>T, XM_005269781.1:c.42C>G, XM_005269789.3:c.42C>T, XM_005269789.3:c.42C>G, XM_005269789.2:c.42C>T, XM_005269789.2:c.42C>G, XM_005269789.1:c.42C>T, XM_005269789.1:c.42C>G, XM_011539785.3:c.42C>T, XM_011539785.3:c.42C>G, XM_011539785.2:c.42C>T, XM_011539785.2:c.42C>G, XM_011539785.1:c.42C>T, XM_011539785.1:c.42C>G, XM_005269792.3:c.42C>T, XM_005269792.3:c.42C>G, XM_005269792.2:c.42C>T, XM_005269792.2:c.42C>G, XM_005269792.1:c.42C>T, XM_005269792.1:c.42C>G, XM_005269796.3:c.42C>T, XM_005269796.3:c.42C>G, XM_017016222.3:c.42C>T, XM_017016222.3:c.42C>G, XM_017016222.2:c.42C>T, XM_017016222.2:c.42C>G, XM_017016222.1:c.42C>T, XM_017016222.1:c.42C>G, XM_017016219.3:c.42C>T, XM_017016219.3:c.42C>G, XM_017016219.2:c.42C>T, XM_017016219.2:c.42C>G, XM_017016219.1:c.42C>T, XM_017016219.1:c.42C>G, XM_017016209.3:c.42C>T, XM_017016209.3:c.42C>G, XM_017016209.2:c.42C>T, XM_017016209.2:c.42C>G, XM_017016209.1:c.42C>T, XM_017016209.1:c.42C>G, XM_011539774.3:c.42C>T, XM_011539774.3:c.42C>G, XM_011539774.2:c.42C>T, XM_011539774.2:c.42C>G, XM_011539774.1:c.42C>T, XM_011539774.1:c.42C>G, XM_011539777.3:c.42C>T, XM_011539777.3:c.42C>G, XM_011539777.2:c.42C>T, XM_011539777.2:c.42C>G, XM_011539777.1:c.42C>T, XM_011539777.1:c.42C>G, XM_011539778.3:c.42C>T, XM_011539778.3:c.42C>G, XM_011539778.2:c.42C>T, XM_011539778.2:c.42C>G, XM_011539778.1:c.42C>T, XM_011539778.1:c.42C>G, XM_017016214.3:c.42C>T, XM_017016214.3:c.42C>G, XM_017016214.2:c.42C>T, XM_017016214.2:c.42C>G, XM_017016214.1:c.42C>T, XM_017016214.1:c.42C>G, XM_011539782.3:c.42C>T, XM_011539782.3:c.42C>G, XM_011539782.2:c.42C>T, XM_011539782.2:c.42C>G, XM_011539782.1:c.42C>T, XM_011539782.1:c.42C>G, XM_011539783.3:c.42C>T, XM_011539783.3:c.42C>G, XM_011539783.2:c.42C>T, XM_011539783.2:c.42C>G, XM_011539783.1:c.42C>T, XM_011539783.1:c.42C>G, XM_006717826.3:c.42C>T, XM_006717826.3:c.42C>G, XM_006717826.2:c.42C>T, XM_006717826.2:c.42C>G, XM_006717826.1:c.42C>T, XM_006717826.1:c.42C>G, XM_011539784.3:c.42C>T, XM_011539784.3:c.42C>G, XM_011539784.2:c.42C>T, XM_011539784.2:c.42C>G, XM_011539784.1:c.42C>T, XM_011539784.1:c.42C>G, XM_024447987.2:c.42C>T, XM_024447987.2:c.42C>G, XM_024447987.1:c.42C>T, XM_024447987.1:c.42C>G, XM_024447984.2:c.42C>T, XM_024447984.2:c.42C>G, XM_024447984.1:c.42C>T, XM_024447984.1:c.42C>G, XM_017016217.2:c.42C>T, XM_017016217.2:c.42C>G, XM_017016217.1:c.42C>T, XM_017016217.1:c.42C>G, XM_024447989.2:c.42C>T, XM_024447989.2:c.42C>G, XM_024447989.1:c.42C>T, XM_024447989.1:c.42C>G, XM_024447988.2:c.42C>T, XM_024447988.2:c.42C>G, XM_024447988.1:c.42C>T, XM_024447988.1:c.42C>G, XM_024447990.2:c.42C>T, XM_024447990.2:c.42C>G, XM_024447990.1:c.42C>T, XM_024447990.1:c.42C>G, XM_024447985.2:c.42C>T, XM_024447985.2:c.42C>G, XM_024447985.1:c.42C>T, XM_024447985.1:c.42C>G, XM_047425196.1:c.42C>T, XM_047425196.1:c.42C>G, XM_047425199.1:c.42C>T, XM_047425199.1:c.42C>G, XM_047425195.1:c.42C>T, XM_047425195.1:c.42C>G, XM_047425197.1:c.42C>T, XM_047425197.1:c.42C>G, XM_047425201.1:c.42C>T, XM_047425201.1:c.42C>G, XR_007061964.1:n.208C>T, XR_007061964.1:n.208C>G

                        12.

                        rs1465961295 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          10:77636564 (GRCh38)
                          10:79396322 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:77636563:G:C
                          Gene:
                          KCNMA1 (Varview)
                          Functional Consequence:
                          synonymous_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000007/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1464796627 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:77637418 (GRCh38)
                            10:79397176 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:77637417:C:T
                            Gene:
                            KCNMA1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            HGVS:
                            NC_000010.11:g.77637418C>T, NC_000010.10:g.79397176C>T, NG_012270.1:g.5402G>A, NM_002247.4:c.225G>A, NM_002247.3:c.225G>A, NM_001014797.3:c.225G>A, NM_001014797.2:c.225G>A, NM_001322830.2:c.225G>A, NM_001322830.1:c.225G>A, NM_001322835.2:c.225G>A, NM_001322835.1:c.225G>A, NM_001322829.2:c.225G>A, NM_001322829.1:c.225G>A, NM_001322832.2:c.225G>A, NM_001322832.1:c.225G>A, NM_001271518.2:c.225G>A, NM_001271518.1:c.225G>A, NM_001161352.2:c.225G>A, NM_001161352.1:c.225G>A, NM_001161353.2:c.225G>A, NM_001161353.1:c.225G>A, NM_001322837.2:c.225G>A, NM_001322837.1:c.225G>A, NM_001271519.2:c.225G>A, NM_001271519.1:c.225G>A, NM_001322836.2:c.225G>A, NM_001322836.1:c.225G>A, NM_001271522.2:c.225G>A, NM_001271522.1:c.225G>A, NM_001271520.2:c.225G>A, NM_001271520.1:c.225G>A, NM_001322839.2:c.225G>A, NM_001322839.1:c.225G>A, NM_001271521.2:c.225G>A, NM_001271521.1:c.225G>A, NM_001410940.1:c.225G>A, XM_005269776.5:c.225G>A, XM_005269776.4:c.225G>A, XM_005269776.3:c.225G>A, XM_005269776.2:c.225G>A, XM_005269776.1:c.225G>A, XM_005269787.5:c.225G>A, XM_005269787.4:c.225G>A, XM_005269787.3:c.225G>A, XM_005269787.2:c.225G>A, XM_005269787.1:c.225G>A, XM_011539781.4:c.225G>A, XM_011539781.3:c.225G>A, XM_011539781.2:c.225G>A, XM_011539781.1:c.225G>A, XM_017016207.3:c.225G>A, XM_017016207.2:c.225G>A, XM_017016207.1:c.225G>A, XM_017016208.3:c.225G>A, XM_017016208.2:c.225G>A, XM_017016208.1:c.225G>A, XM_011539773.3:c.225G>A, XM_011539773.2:c.225G>A, XM_011539773.1:c.225G>A, XM_017016210.3:c.225G>A, XM_017016210.2:c.225G>A, XM_017016210.1:c.225G>A, XM_011539775.3:c.225G>A, XM_011539775.2:c.225G>A, XM_011539775.1:c.225G>A, XM_017016211.3:c.225G>A, XM_017016211.2:c.225G>A, XM_017016211.1:c.225G>A, XM_017016213.3:c.225G>A, XM_017016213.2:c.225G>A, XM_017016213.1:c.225G>A, XM_011539780.3:c.225G>A, XM_011539780.2:c.225G>A, XM_011539780.1:c.225G>A, XM_005269778.3:c.225G>A, XM_005269778.2:c.225G>A, XM_005269778.1:c.225G>A, XM_005269781.3:c.225G>A, XM_005269781.2:c.225G>A, XM_005269781.1:c.225G>A, XM_005269789.3:c.225G>A, XM_005269789.2:c.225G>A, XM_005269789.1:c.225G>A, XM_011539785.3:c.225G>A, XM_011539785.2:c.225G>A, XM_011539785.1:c.225G>A, XM_005269792.3:c.225G>A, XM_005269792.2:c.225G>A, XM_005269792.1:c.225G>A, XM_005269796.3:c.225G>A, XM_017016222.3:c.225G>A, XM_017016222.2:c.225G>A, XM_017016222.1:c.225G>A, XM_017016219.3:c.225G>A, XM_017016219.2:c.225G>A, XM_017016219.1:c.225G>A, XM_017016209.3:c.225G>A, XM_017016209.2:c.225G>A, XM_017016209.1:c.225G>A, XM_011539774.3:c.225G>A, XM_011539774.2:c.225G>A, XM_011539774.1:c.225G>A, XM_011539777.3:c.225G>A, XM_011539777.2:c.225G>A, XM_011539777.1:c.225G>A, XM_011539778.3:c.225G>A, XM_011539778.2:c.225G>A, XM_011539778.1:c.225G>A, XM_017016214.3:c.225G>A, XM_017016214.2:c.225G>A, XM_017016214.1:c.225G>A, XM_011539782.3:c.225G>A, XM_011539782.2:c.225G>A, XM_011539782.1:c.225G>A, XM_011539783.3:c.225G>A, XM_011539783.2:c.225G>A, XM_011539783.1:c.225G>A, XM_006717826.3:c.225G>A, XM_006717826.2:c.225G>A, XM_006717826.1:c.225G>A, XM_011539784.3:c.225G>A, XM_011539784.2:c.225G>A, XM_011539784.1:c.225G>A, XM_024447987.2:c.225G>A, XM_024447987.1:c.225G>A, XM_024447984.2:c.225G>A, XM_024447984.1:c.225G>A, XM_017016217.2:c.225G>A, XM_017016217.1:c.225G>A, XM_024447989.2:c.225G>A, XM_024447989.1:c.225G>A, XM_024447988.2:c.225G>A, XM_024447988.1:c.225G>A, XM_024447990.2:c.225G>A, XM_024447990.1:c.225G>A, XM_024447985.2:c.225G>A, XM_024447985.1:c.225G>A, XM_047425196.1:c.225G>A, XM_047425199.1:c.225G>A, XM_047425195.1:c.225G>A, XM_047425197.1:c.225G>A, XM_047425201.1:c.225G>A, XR_007061964.1:n.391G>A, NP_002238.2:p.Met75Ile, NP_001014797.1:p.Met75Ile, NP_001309759.1:p.Met75Ile, NP_001309764.1:p.Met75Ile, NP_001309758.1:p.Met75Ile, NP_001309761.1:p.Met75Ile, NP_001258447.1:p.Met75Ile, NP_001154824.1:p.Met75Ile, NP_001154825.1:p.Met75Ile, NP_001309766.1:p.Met75Ile, NP_001258448.1:p.Met75Ile, NP_001309765.1:p.Met75Ile, NP_001258451.1:p.Met75Ile, NP_001258449.1:p.Met75Ile, NP_001309768.1:p.Met75Ile, NP_001258450.1:p.Met75Ile, XP_005269833.1:p.Met75Ile, XP_005269844.1:p.Met75Ile, XP_011538083.1:p.Met75Ile, XP_016871696.1:p.Met75Ile, XP_016871697.1:p.Met75Ile, XP_011538075.1:p.Met75Ile, XP_016871699.1:p.Met75Ile, XP_011538077.1:p.Met75Ile, XP_016871700.1:p.Met75Ile, XP_016871702.1:p.Met75Ile, XP_011538082.1:p.Met75Ile, XP_005269835.1:p.Met75Ile, XP_005269838.1:p.Met75Ile, XP_005269846.1:p.Met75Ile, XP_011538087.1:p.Met75Ile, XP_005269849.1:p.Met75Ile, XP_005269853.1:p.Met75Ile, XP_016871711.2:p.Met75Ile, XP_016871708.1:p.Met75Ile, XP_016871698.1:p.Met75Ile, XP_011538076.1:p.Met75Ile, XP_011538079.1:p.Met75Ile, XP_011538080.1:p.Met75Ile, XP_016871703.1:p.Met75Ile, XP_011538084.1:p.Met75Ile, XP_011538085.1:p.Met75Ile, XP_006717889.1:p.Met75Ile, XP_011538086.1:p.Met75Ile, XP_024303755.1:p.Met75Ile, XP_024303752.1:p.Met75Ile, XP_016871706.1:p.Met75Ile, XP_024303757.1:p.Met75Ile, XP_024303756.1:p.Met75Ile, XP_024303758.1:p.Met75Ile, XP_024303753.1:p.Met75Ile, XP_047281152.1:p.Met75Ile, XP_047281155.1:p.Met75Ile, XP_047281151.1:p.Met75Ile, XP_047281153.1:p.Met75Ile, XP_047281157.1:p.Met75Ile

                            14.

                            rs1452287220 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:77636362 (GRCh38)
                              10:79396120 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:77636361:C:T
                              Gene:
                              KCNMA1 (Varview)
                              Functional Consequence:
                              synonymous_variant,3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1449940734 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                10:77636348 (GRCh38)
                                10:79396106 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:77636347:G:
                                Gene:
                                KCNMA1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000008/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1448395716 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,T [Show Flanks]
                                  Chromosome:
                                  10:77636401 (GRCh38)
                                  10:79396159 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:77636400:A:C,NC_000010.11:77636400:A:T
                                  Gene:
                                  KCNMA1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1446528365 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:77637537 (GRCh38)
                                    10:79397295 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:77637536:G:A
                                    Gene:
                                    KCNMA1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000006/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000071/1 (TOMMO)
                                    HGVS:
                                    NC_000010.11:g.77637537G>A, NC_000010.10:g.79397295G>A, NG_012270.1:g.5283C>T, NM_002247.4:c.106C>T, NM_002247.3:c.106C>T, NM_001014797.3:c.106C>T, NM_001014797.2:c.106C>T, NM_001322830.2:c.106C>T, NM_001322830.1:c.106C>T, NM_001322835.2:c.106C>T, NM_001322835.1:c.106C>T, NM_001322829.2:c.106C>T, NM_001322829.1:c.106C>T, NM_001322832.2:c.106C>T, NM_001322832.1:c.106C>T, NM_001271518.2:c.106C>T, NM_001271518.1:c.106C>T, NM_001161352.2:c.106C>T, NM_001161352.1:c.106C>T, NM_001161353.2:c.106C>T, NM_001161353.1:c.106C>T, NM_001322837.2:c.106C>T, NM_001322837.1:c.106C>T, NM_001271519.2:c.106C>T, NM_001271519.1:c.106C>T, NM_001322836.2:c.106C>T, NM_001322836.1:c.106C>T, NM_001271522.2:c.106C>T, NM_001271522.1:c.106C>T, NM_001271520.2:c.106C>T, NM_001271520.1:c.106C>T, NM_001322839.2:c.106C>T, NM_001322839.1:c.106C>T, NM_001271521.2:c.106C>T, NM_001271521.1:c.106C>T, NM_001410940.1:c.106C>T, XM_005269776.5:c.106C>T, XM_005269776.4:c.106C>T, XM_005269776.3:c.106C>T, XM_005269776.2:c.106C>T, XM_005269776.1:c.106C>T, XM_005269787.5:c.106C>T, XM_005269787.4:c.106C>T, XM_005269787.3:c.106C>T, XM_005269787.2:c.106C>T, XM_005269787.1:c.106C>T, XM_011539781.4:c.106C>T, XM_011539781.3:c.106C>T, XM_011539781.2:c.106C>T, XM_011539781.1:c.106C>T, XM_017016207.3:c.106C>T, XM_017016207.2:c.106C>T, XM_017016207.1:c.106C>T, XM_017016208.3:c.106C>T, XM_017016208.2:c.106C>T, XM_017016208.1:c.106C>T, XM_011539773.3:c.106C>T, XM_011539773.2:c.106C>T, XM_011539773.1:c.106C>T, XM_017016210.3:c.106C>T, XM_017016210.2:c.106C>T, XM_017016210.1:c.106C>T, XM_011539775.3:c.106C>T, XM_011539775.2:c.106C>T, XM_011539775.1:c.106C>T, XM_017016211.3:c.106C>T, XM_017016211.2:c.106C>T, XM_017016211.1:c.106C>T, XM_017016213.3:c.106C>T, XM_017016213.2:c.106C>T, XM_017016213.1:c.106C>T, XM_011539780.3:c.106C>T, XM_011539780.2:c.106C>T, XM_011539780.1:c.106C>T, XM_005269778.3:c.106C>T, XM_005269778.2:c.106C>T, XM_005269778.1:c.106C>T, XM_005269781.3:c.106C>T, XM_005269781.2:c.106C>T, XM_005269781.1:c.106C>T, XM_005269789.3:c.106C>T, XM_005269789.2:c.106C>T, XM_005269789.1:c.106C>T, XM_011539785.3:c.106C>T, XM_011539785.2:c.106C>T, XM_011539785.1:c.106C>T, XM_005269792.3:c.106C>T, XM_005269792.2:c.106C>T, XM_005269792.1:c.106C>T, XM_005269796.3:c.106C>T, XM_017016222.3:c.106C>T, XM_017016222.2:c.106C>T, XM_017016222.1:c.106C>T, XM_017016219.3:c.106C>T, XM_017016219.2:c.106C>T, XM_017016219.1:c.106C>T, XM_017016209.3:c.106C>T, XM_017016209.2:c.106C>T, XM_017016209.1:c.106C>T, XM_011539774.3:c.106C>T, XM_011539774.2:c.106C>T, XM_011539774.1:c.106C>T, XM_011539777.3:c.106C>T, XM_011539777.2:c.106C>T, XM_011539777.1:c.106C>T, XM_011539778.3:c.106C>T, XM_011539778.2:c.106C>T, XM_011539778.1:c.106C>T, XM_017016214.3:c.106C>T, XM_017016214.2:c.106C>T, XM_017016214.1:c.106C>T, XM_011539782.3:c.106C>T, XM_011539782.2:c.106C>T, XM_011539782.1:c.106C>T, XM_011539783.3:c.106C>T, XM_011539783.2:c.106C>T, XM_011539783.1:c.106C>T, XM_006717826.3:c.106C>T, XM_006717826.2:c.106C>T, XM_006717826.1:c.106C>T, XM_011539784.3:c.106C>T, XM_011539784.2:c.106C>T, XM_011539784.1:c.106C>T, XM_024447987.2:c.106C>T, XM_024447987.1:c.106C>T, XM_024447984.2:c.106C>T, XM_024447984.1:c.106C>T, XM_017016217.2:c.106C>T, XM_017016217.1:c.106C>T, XM_024447989.2:c.106C>T, XM_024447989.1:c.106C>T, XM_024447988.2:c.106C>T, XM_024447988.1:c.106C>T, XM_024447990.2:c.106C>T, XM_024447990.1:c.106C>T, XM_024447985.2:c.106C>T, XM_024447985.1:c.106C>T, XM_047425196.1:c.106C>T, XM_047425199.1:c.106C>T, XM_047425195.1:c.106C>T, XM_047425197.1:c.106C>T, XM_047425201.1:c.106C>T, XR_007061964.1:n.272C>T

                                    18.

                                    rs1445841605 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      10:77636984 (GRCh38)
                                      10:79396742 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:77636983:C:A,NC_000010.11:77636983:C:G,NC_000010.11:77636983:C:T
                                      Gene:
                                      KCNMA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:

                                      19.

                                      rs1443672480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:77636539 (GRCh38)
                                        10:79396297 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:77636538:G:A
                                        Gene:
                                        KCNMA1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1440394413 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:77636478 (GRCh38)
                                          10:79396236 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:77636477:G:A
                                          Gene:
                                          KCNMA1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                          HGVS:

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