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Items: 1 to 20 of 1810

1.

rs1490421139 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    12:2593304 (GRCh38)
    12:2702470 (GRCh37)
    Canonical SPDI:
    NC_000012.12:2593303:G:C
    Gene:
    CACNA1C (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000011/3 (TOPMED)
    HGVS:
    NC_000012.12:g.2593304G>C, NC_000012.11:g.2702470G>C, NG_008801.2:g.627519G>C, NM_000719.7:c.2622G>C, NM_000719.6:c.2622G>C, NM_199460.4:c.2622G>C, NM_199460.3:c.2622G>C, NM_199460.2:c.2622G>C, NM_001167624.3:c.2622G>C, NM_001167624.2:c.2622G>C, NM_001167624.1:c.2622G>C, NM_001129830.3:c.2622G>C, NM_001129830.2:c.2622G>C, NM_001129830.1:c.2622G>C, NM_001167625.2:c.2622G>C, NM_001167625.1:c.2622G>C, NM_001129827.2:c.2622G>C, NM_001129827.1:c.2622G>C, NM_001129829.2:c.2622G>C, NM_001129829.1:c.2622G>C, NM_001129831.2:c.2622G>C, NM_001129831.1:c.2622G>C, NM_001129832.2:c.2622G>C, NM_001129832.1:c.2622G>C, NM_001129835.2:c.2622G>C, NM_001129835.1:c.2622G>C, NM_001129834.2:c.2622G>C, NM_001129834.1:c.2622G>C, NM_001129833.2:c.2622G>C, NM_001129833.1:c.2622G>C, NM_001129836.2:c.2622G>C, NM_001129836.1:c.2622G>C, NM_001129838.2:c.2622G>C, NM_001129838.1:c.2622G>C, NM_001129837.2:c.2622G>C, NM_001129837.1:c.2622G>C, NM_001129839.2:c.2622G>C, NM_001129839.1:c.2622G>C, NM_001167623.2:c.2622G>C, NM_001167623.1:c.2622G>C, NM_001129843.2:c.2622G>C, NM_001129843.1:c.2622G>C, NM_001129842.2:c.2622G>C, NM_001129842.1:c.2622G>C, NM_001129841.2:c.2622G>C, NM_001129841.1:c.2622G>C, NM_001129840.2:c.2622G>C, NM_001129840.1:c.2622G>C, NM_001129844.2:c.2613G>C, NM_001129844.1:c.2613G>C, NM_001129846.2:c.2622G>C, NM_001129846.1:c.2622G>C, NW_018654718.1:g.941420G>C, XM_011521023.4:c.2697G>C, XM_011521023.3:c.2697G>C, XM_011521023.2:c.2697G>C, XM_011521023.1:c.2697G>C, XM_017019926.3:c.2985G>C, XM_017019926.2:c.2985G>C, XM_017019926.1:c.2985G>C, XM_017019927.3:c.2985G>C, XM_017019927.2:c.2985G>C, XM_017019927.1:c.2985G>C, XM_017019928.3:c.2985G>C, XM_017019928.2:c.2985G>C, XM_017019928.1:c.2985G>C, XM_017019930.3:c.2985G>C, XM_017019930.2:c.2985G>C, XM_017019930.1:c.2985G>C, XM_017019929.3:c.2985G>C, XM_017019929.2:c.2985G>C, XM_017019929.1:c.2985G>C, XM_017019931.3:c.2985G>C, XM_017019931.2:c.2985G>C, XM_017019931.1:c.2985G>C, XM_017019932.3:c.2790G>C, XM_017019932.2:c.2790G>C, XM_017019932.1:c.2790G>C, XM_017019933.3:c.2790G>C, XM_017019933.2:c.2790G>C, XM_017019933.1:c.2790G>C, XM_017019955.3:c.2865G>C, XM_017019955.2:c.2865G>C, XM_017019955.1:c.2865G>C, XM_017019935.3:c.2865G>C, XM_017019935.2:c.2865G>C, XM_017019935.1:c.2865G>C, XM_017019934.3:c.2865G>C, XM_017019934.2:c.2865G>C, XM_017019934.1:c.2865G>C, XM_017019939.3:c.2790G>C, XM_017019939.2:c.2790G>C, XM_017019939.1:c.2790G>C, XM_017019949.3:c.2790G>C, XM_017019949.2:c.2790G>C, XM_017019949.1:c.2790G>C, XM_017019948.3:c.2790G>C, XM_017019948.2:c.2790G>C, XM_017019948.1:c.2790G>C, XM_017019947.3:c.2790G>C, XM_017019947.2:c.2790G>C, XM_017019947.1:c.2790G>C, XM_017019945.3:c.2790G>C, XM_017019945.2:c.2790G>C, XM_017019945.1:c.2790G>C, XM_017019944.3:c.2790G>C, XM_017019944.2:c.2790G>C, XM_017019944.1:c.2790G>C, XM_017019943.3:c.2790G>C, XM_017019943.2:c.2790G>C, XM_017019943.1:c.2790G>C, XM_011521020.3:c.2787G>C, XM_011521020.2:c.2787G>C, XM_011521020.1:c.2787G>C, XM_017019954.2:c.2712G>C, XM_017019954.1:c.2712G>C, XM_017019953.2:c.2712G>C, XM_017019953.1:c.2712G>C, XM_017019946.3:c.2790G>C, XM_017019946.2:c.2790G>C, XM_017019946.1:c.2790G>C, XM_017019950.3:c.2790G>C, XM_017019950.2:c.2790G>C, XM_017019950.1:c.2790G>C, XM_006719017.3:c.2712G>C, XM_006719017.2:c.2712G>C, XM_006719017.1:c.2712G>C, XM_047429516.1:c.2985G>C, XM_047429515.1:c.2985G>C, XM_047429518.1:c.2985G>C, XM_047429517.1:c.2985G>C, XM_047429519.1:c.2865G>C, XM_047429514.1:c.2985G>C, XM_047429513.1:c.2985G>C, XM_047429520.1:c.1818G>C, NP_000710.5:p.Met874Ile, NP_955630.3:p.Met874Ile, NP_001161096.2:p.Met874Ile, NP_001123302.2:p.Met874Ile, NP_001161097.1:p.Met874Ile, NP_001123299.1:p.Met874Ile, NP_001123301.1:p.Met874Ile, NP_001123303.1:p.Met874Ile, NP_001123304.1:p.Met874Ile, NP_001123307.1:p.Met874Ile, NP_001123306.1:p.Met874Ile, NP_001123305.1:p.Met874Ile, NP_001123308.1:p.Met874Ile, NP_001123310.1:p.Met874Ile, NP_001123309.1:p.Met874Ile, NP_001123311.1:p.Met874Ile, NP_001161095.1:p.Met874Ile, NP_001123315.1:p.Met874Ile, NP_001123314.1:p.Met874Ile, NP_001123313.1:p.Met874Ile, NP_001123312.1:p.Met874Ile, NP_001123316.1:p.Met871Ile, NP_001123318.1:p.Met874Ile, XP_011519325.1:p.Met899Ile, XP_016875415.1:p.Met995Ile, XP_016875416.1:p.Met995Ile, XP_016875417.1:p.Met995Ile, XP_016875419.1:p.Met995Ile, XP_016875418.1:p.Met995Ile, XP_016875420.1:p.Met995Ile, XP_016875421.1:p.Met930Ile, XP_016875422.1:p.Met930Ile, XP_016875444.1:p.Met955Ile, XP_016875424.1:p.Met955Ile, XP_016875423.1:p.Met955Ile, XP_016875428.1:p.Met930Ile, XP_016875438.1:p.Met930Ile, XP_016875437.1:p.Met930Ile, XP_016875436.1:p.Met930Ile, XP_016875434.1:p.Met930Ile, XP_016875433.1:p.Met930Ile, XP_016875432.1:p.Met930Ile, XP_011519322.1:p.Met929Ile, XP_016875443.1:p.Met904Ile, XP_016875442.1:p.Met904Ile, XP_016875435.1:p.Met930Ile, XP_016875439.1:p.Met930Ile, XP_006719080.1:p.Met904Ile, XP_047285472.1:p.Met995Ile, XP_047285471.1:p.Met995Ile, XP_047285474.1:p.Met995Ile, XP_047285473.1:p.Met995Ile, XP_047285475.1:p.Met955Ile, XP_047285470.1:p.Met995Ile, XP_047285469.1:p.Met995Ile, XP_047285476.1:p.Met606Ile

    2.

    rs1489882395 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      12:2585401 (GRCh38)
      12:2694567 (GRCh37)
      Canonical SPDI:
      NC_000012.12:2585400:G:C,NC_000012.12:2585400:G:T
      Gene:
      CACNA1C (Varview)
      Functional Consequence:
      coding_sequence_variant,stop_gained,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.2585401G>C, NC_000012.12:g.2585401G>T, NC_000012.11:g.2694567G>C, NC_000012.11:g.2694567G>T, NG_008801.2:g.619616G>C, NG_008801.2:g.619616G>T, NM_000719.7:c.2365G>C, NM_000719.7:c.2365G>T, NM_000719.6:c.2365G>C, NM_000719.6:c.2365G>T, NM_199460.4:c.2365G>C, NM_199460.4:c.2365G>T, NM_199460.3:c.2365G>C, NM_199460.3:c.2365G>T, NM_199460.2:c.2365G>C, NM_199460.2:c.2365G>T, NM_001167624.3:c.2365G>C, NM_001167624.3:c.2365G>T, NM_001167624.2:c.2365G>C, NM_001167624.2:c.2365G>T, NM_001167624.1:c.2365G>C, NM_001167624.1:c.2365G>T, NM_001129830.3:c.2365G>C, NM_001129830.3:c.2365G>T, NM_001129830.2:c.2365G>C, NM_001129830.2:c.2365G>T, NM_001129830.1:c.2365G>C, NM_001129830.1:c.2365G>T, NM_001167625.2:c.2365G>C, NM_001167625.2:c.2365G>T, NM_001167625.1:c.2365G>C, NM_001167625.1:c.2365G>T, NM_001129827.2:c.2365G>C, NM_001129827.2:c.2365G>T, NM_001129827.1:c.2365G>C, NM_001129827.1:c.2365G>T, NM_001129829.2:c.2365G>C, NM_001129829.2:c.2365G>T, NM_001129829.1:c.2365G>C, NM_001129829.1:c.2365G>T, NM_001129831.2:c.2365G>C, NM_001129831.2:c.2365G>T, NM_001129831.1:c.2365G>C, NM_001129831.1:c.2365G>T, NM_001129832.2:c.2365G>C, NM_001129832.2:c.2365G>T, NM_001129832.1:c.2365G>C, NM_001129832.1:c.2365G>T, NM_001129835.2:c.2365G>C, NM_001129835.2:c.2365G>T, NM_001129835.1:c.2365G>C, NM_001129835.1:c.2365G>T, NM_001129834.2:c.2365G>C, NM_001129834.2:c.2365G>T, NM_001129834.1:c.2365G>C, NM_001129834.1:c.2365G>T, NM_001129833.2:c.2365G>C, NM_001129833.2:c.2365G>T, NM_001129833.1:c.2365G>C, NM_001129833.1:c.2365G>T, NM_001129836.2:c.2365G>C, NM_001129836.2:c.2365G>T, NM_001129836.1:c.2365G>C, NM_001129836.1:c.2365G>T, NM_001129838.2:c.2365G>C, NM_001129838.2:c.2365G>T, NM_001129838.1:c.2365G>C, NM_001129838.1:c.2365G>T, NM_001129837.2:c.2365G>C, NM_001129837.2:c.2365G>T, NM_001129837.1:c.2365G>C, NM_001129837.1:c.2365G>T, NM_001129839.2:c.2365G>C, NM_001129839.2:c.2365G>T, NM_001129839.1:c.2365G>C, NM_001129839.1:c.2365G>T, NM_001167623.2:c.2365G>C, NM_001167623.2:c.2365G>T, NM_001167623.1:c.2365G>C, NM_001167623.1:c.2365G>T, NM_001129843.2:c.2365G>C, NM_001129843.2:c.2365G>T, NM_001129843.1:c.2365G>C, NM_001129843.1:c.2365G>T, NM_001129842.2:c.2365G>C, NM_001129842.2:c.2365G>T, NM_001129842.1:c.2365G>C, NM_001129842.1:c.2365G>T, NM_001129841.2:c.2365G>C, NM_001129841.2:c.2365G>T, NM_001129841.1:c.2365G>C, NM_001129841.1:c.2365G>T, NM_001129840.2:c.2365G>C, NM_001129840.2:c.2365G>T, NM_001129840.1:c.2365G>C, NM_001129840.1:c.2365G>T, NM_001129844.2:c.2356G>C, NM_001129844.2:c.2356G>T, NM_001129844.1:c.2356G>C, NM_001129844.1:c.2356G>T, NM_001129846.2:c.2365G>C, NM_001129846.2:c.2365G>T, NM_001129846.1:c.2365G>C, NM_001129846.1:c.2365G>T, NW_018654718.1:g.933517G>C, NW_018654718.1:g.933517G>T, XM_011521023.4:c.2440G>C, XM_011521023.4:c.2440G>T, XM_011521023.3:c.2440G>C, XM_011521023.3:c.2440G>T, XM_011521023.2:c.2440G>C, XM_011521023.2:c.2440G>T, XM_011521023.1:c.2440G>C, XM_011521023.1:c.2440G>T, XM_017019926.3:c.2728G>C, XM_017019926.3:c.2728G>T, XM_017019926.2:c.2728G>C, XM_017019926.2:c.2728G>T, XM_017019926.1:c.2728G>C, XM_017019926.1:c.2728G>T, XM_017019927.3:c.2728G>C, XM_017019927.3:c.2728G>T, XM_017019927.2:c.2728G>C, XM_017019927.2:c.2728G>T, XM_017019927.1:c.2728G>C, XM_017019927.1:c.2728G>T, XM_017019928.3:c.2728G>C, XM_017019928.3:c.2728G>T, XM_017019928.2:c.2728G>C, XM_017019928.2:c.2728G>T, XM_017019928.1:c.2728G>C, XM_017019928.1:c.2728G>T, XM_017019930.3:c.2728G>C, XM_017019930.3:c.2728G>T, XM_017019930.2:c.2728G>C, XM_017019930.2:c.2728G>T, XM_017019930.1:c.2728G>C, XM_017019930.1:c.2728G>T, XM_017019929.3:c.2728G>C, XM_017019929.3:c.2728G>T, XM_017019929.2:c.2728G>C, XM_017019929.2:c.2728G>T, XM_017019929.1:c.2728G>C, XM_017019929.1:c.2728G>T, XM_017019931.3:c.2728G>C, XM_017019931.3:c.2728G>T, XM_017019931.2:c.2728G>C, XM_017019931.2:c.2728G>T, XM_017019931.1:c.2728G>C, XM_017019931.1:c.2728G>T, XM_017019932.3:c.2533G>C, XM_017019932.3:c.2533G>T, XM_017019932.2:c.2533G>C, XM_017019932.2:c.2533G>T, XM_017019932.1:c.2533G>C, XM_017019932.1:c.2533G>T, XM_017019933.3:c.2533G>C, XM_017019933.3:c.2533G>T, XM_017019933.2:c.2533G>C, XM_017019933.2:c.2533G>T, XM_017019933.1:c.2533G>C, XM_017019933.1:c.2533G>T, XM_017019955.3:c.2608G>C, XM_017019955.3:c.2608G>T, XM_017019955.2:c.2608G>C, XM_017019955.2:c.2608G>T, XM_017019955.1:c.2608G>C, XM_017019955.1:c.2608G>T, XM_017019935.3:c.2608G>C, XM_017019935.3:c.2608G>T, XM_017019935.2:c.2608G>C, XM_017019935.2:c.2608G>T, XM_017019935.1:c.2608G>C, XM_017019935.1:c.2608G>T, XM_017019934.3:c.2608G>C, XM_017019934.3:c.2608G>T, XM_017019934.2:c.2608G>C, XM_017019934.2:c.2608G>T, XM_017019934.1:c.2608G>C, XM_017019934.1:c.2608G>T, XM_017019939.3:c.2533G>C, XM_017019939.3:c.2533G>T, XM_017019939.2:c.2533G>C, XM_017019939.2:c.2533G>T, XM_017019939.1:c.2533G>C, XM_017019939.1:c.2533G>T, XM_017019949.3:c.2533G>C, XM_017019949.3:c.2533G>T, XM_017019949.2:c.2533G>C, XM_017019949.2:c.2533G>T, XM_017019949.1:c.2533G>C, XM_017019949.1:c.2533G>T, XM_017019948.3:c.2533G>C, XM_017019948.3:c.2533G>T, XM_017019948.2:c.2533G>C, XM_017019948.2:c.2533G>T, XM_017019948.1:c.2533G>C, XM_017019948.1:c.2533G>T, XM_017019947.3:c.2533G>C, XM_017019947.3:c.2533G>T, XM_017019947.2:c.2533G>C, XM_017019947.2:c.2533G>T, XM_017019947.1:c.2533G>C, XM_017019947.1:c.2533G>T, XM_017019945.3:c.2533G>C, XM_017019945.3:c.2533G>T, XM_017019945.2:c.2533G>C, XM_017019945.2:c.2533G>T, XM_017019945.1:c.2533G>C, XM_017019945.1:c.2533G>T, XM_017019944.3:c.2533G>C, XM_017019944.3:c.2533G>T, XM_017019944.2:c.2533G>C, XM_017019944.2:c.2533G>T, XM_017019944.1:c.2533G>C, XM_017019944.1:c.2533G>T, XM_017019943.3:c.2533G>C, XM_017019943.3:c.2533G>T, XM_017019943.2:c.2533G>C, XM_017019943.2:c.2533G>T, XM_017019943.1:c.2533G>C, XM_017019943.1:c.2533G>T, XM_011521020.3:c.2530G>C, XM_011521020.3:c.2530G>T, XM_011521020.2:c.2530G>C, XM_011521020.2:c.2530G>T, XM_011521020.1:c.2530G>C, XM_011521020.1:c.2530G>T, XM_017019954.2:c.2455G>C, XM_017019954.2:c.2455G>T, XM_017019954.1:c.2455G>C, XM_017019954.1:c.2455G>T, XM_017019953.2:c.2455G>C, XM_017019953.2:c.2455G>T, XM_017019953.1:c.2455G>C, XM_017019953.1:c.2455G>T, XM_017019946.3:c.2533G>C, XM_017019946.3:c.2533G>T, XM_017019946.2:c.2533G>C, XM_017019946.2:c.2533G>T, XM_017019946.1:c.2533G>C, XM_017019946.1:c.2533G>T, XM_017019950.3:c.2533G>C, XM_017019950.3:c.2533G>T, XM_017019950.2:c.2533G>C, XM_017019950.2:c.2533G>T, XM_017019950.1:c.2533G>C, XM_017019950.1:c.2533G>T, XM_006719017.3:c.2455G>C, XM_006719017.3:c.2455G>T, XM_006719017.2:c.2455G>C, XM_006719017.2:c.2455G>T, XM_006719017.1:c.2455G>C, XM_006719017.1:c.2455G>T, XM_047429516.1:c.2728G>C, XM_047429516.1:c.2728G>T, XM_047429515.1:c.2728G>C, XM_047429515.1:c.2728G>T, XM_047429518.1:c.2728G>C, XM_047429518.1:c.2728G>T, XM_047429517.1:c.2728G>C, XM_047429517.1:c.2728G>T, XM_047429519.1:c.2608G>C, XM_047429519.1:c.2608G>T, XM_047429514.1:c.2728G>C, XM_047429514.1:c.2728G>T, XM_047429513.1:c.2728G>C, XM_047429513.1:c.2728G>T, XM_047429520.1:c.1561G>C, XM_047429520.1:c.1561G>T, NP_000710.5:p.Glu789Gln, NP_000710.5:p.Glu789Ter, NP_955630.3:p.Glu789Gln, NP_955630.3:p.Glu789Ter, NP_001161096.2:p.Glu789Gln, NP_001161096.2:p.Glu789Ter, NP_001123302.2:p.Glu789Gln, NP_001123302.2:p.Glu789Ter, NP_001161097.1:p.Glu789Gln, NP_001161097.1:p.Glu789Ter, NP_001123299.1:p.Glu789Gln, NP_001123299.1:p.Glu789Ter, NP_001123301.1:p.Glu789Gln, NP_001123301.1:p.Glu789Ter, NP_001123303.1:p.Glu789Gln, NP_001123303.1:p.Glu789Ter, NP_001123304.1:p.Glu789Gln, NP_001123304.1:p.Glu789Ter, NP_001123307.1:p.Glu789Gln, NP_001123307.1:p.Glu789Ter, NP_001123306.1:p.Glu789Gln, NP_001123306.1:p.Glu789Ter, NP_001123305.1:p.Glu789Gln, NP_001123305.1:p.Glu789Ter, NP_001123308.1:p.Glu789Gln, NP_001123308.1:p.Glu789Ter, NP_001123310.1:p.Glu789Gln, NP_001123310.1:p.Glu789Ter, NP_001123309.1:p.Glu789Gln, NP_001123309.1:p.Glu789Ter, NP_001123311.1:p.Glu789Gln, NP_001123311.1:p.Glu789Ter, NP_001161095.1:p.Glu789Gln, NP_001161095.1:p.Glu789Ter, NP_001123315.1:p.Glu789Gln, NP_001123315.1:p.Glu789Ter, NP_001123314.1:p.Glu789Gln, NP_001123314.1:p.Glu789Ter, NP_001123313.1:p.Glu789Gln, NP_001123313.1:p.Glu789Ter, NP_001123312.1:p.Glu789Gln, NP_001123312.1:p.Glu789Ter, NP_001123316.1:p.Glu786Gln, NP_001123316.1:p.Glu786Ter, NP_001123318.1:p.Glu789Gln, NP_001123318.1:p.Glu789Ter, XP_011519325.1:p.Glu814Gln, XP_011519325.1:p.Glu814Ter, XP_016875415.1:p.Glu910Gln, XP_016875415.1:p.Glu910Ter, XP_016875416.1:p.Glu910Gln, XP_016875416.1:p.Glu910Ter, XP_016875417.1:p.Glu910Gln, XP_016875417.1:p.Glu910Ter, XP_016875419.1:p.Glu910Gln, XP_016875419.1:p.Glu910Ter, XP_016875418.1:p.Glu910Gln, XP_016875418.1:p.Glu910Ter, XP_016875420.1:p.Glu910Gln, XP_016875420.1:p.Glu910Ter, XP_016875421.1:p.Glu845Gln, XP_016875421.1:p.Glu845Ter, XP_016875422.1:p.Glu845Gln, XP_016875422.1:p.Glu845Ter, XP_016875444.1:p.Glu870Gln, XP_016875444.1:p.Glu870Ter, XP_016875424.1:p.Glu870Gln, XP_016875424.1:p.Glu870Ter, XP_016875423.1:p.Glu870Gln, XP_016875423.1:p.Glu870Ter, XP_016875428.1:p.Glu845Gln, XP_016875428.1:p.Glu845Ter, XP_016875438.1:p.Glu845Gln, XP_016875438.1:p.Glu845Ter, XP_016875437.1:p.Glu845Gln, XP_016875437.1:p.Glu845Ter, XP_016875436.1:p.Glu845Gln, XP_016875436.1:p.Glu845Ter, XP_016875434.1:p.Glu845Gln, XP_016875434.1:p.Glu845Ter, XP_016875433.1:p.Glu845Gln, XP_016875433.1:p.Glu845Ter, XP_016875432.1:p.Glu845Gln, XP_016875432.1:p.Glu845Ter, XP_011519322.1:p.Glu844Gln, XP_011519322.1:p.Glu844Ter, XP_016875443.1:p.Glu819Gln, XP_016875443.1:p.Glu819Ter, XP_016875442.1:p.Glu819Gln, XP_016875442.1:p.Glu819Ter, XP_016875435.1:p.Glu845Gln, XP_016875435.1:p.Glu845Ter, XP_016875439.1:p.Glu845Gln, XP_016875439.1:p.Glu845Ter, XP_006719080.1:p.Glu819Gln, XP_006719080.1:p.Glu819Ter, XP_047285472.1:p.Glu910Gln, XP_047285472.1:p.Glu910Ter, XP_047285471.1:p.Glu910Gln, XP_047285471.1:p.Glu910Ter, XP_047285474.1:p.Glu910Gln, XP_047285474.1:p.Glu910Ter, XP_047285473.1:p.Glu910Gln, XP_047285473.1:p.Glu910Ter, XP_047285475.1:p.Glu870Gln, XP_047285475.1:p.Glu870Ter, XP_047285470.1:p.Glu910Gln, XP_047285470.1:p.Glu910Ter, XP_047285469.1:p.Glu910Gln, XP_047285469.1:p.Glu910Ter, XP_047285476.1:p.Glu521Gln, XP_047285476.1:p.Glu521Ter

      3.

      rs1489840314 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        12:2634371 (GRCh38)
        12:2743537 (GRCh37)
        Canonical SPDI:
        NC_000012.12:2634370:C:A,NC_000012.12:2634370:C:G,NC_000012.12:2634370:C:T
        Gene:
        CACNA1C (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000012.12:g.2634371C>A, NC_000012.12:g.2634371C>G, NC_000012.12:g.2634371C>T, NC_000012.11:g.2743537C>A, NC_000012.11:g.2743537C>G, NC_000012.11:g.2743537C>T, NG_008801.2:g.668586C>A, NG_008801.2:g.668586C>G, NG_008801.2:g.668586C>T, NM_000719.7:c.3903C>A, NM_000719.7:c.3903C>G, NM_000719.7:c.3903C>T, NM_000719.6:c.3903C>A, NM_000719.6:c.3903C>G, NM_000719.6:c.3903C>T, NM_199460.4:c.4047C>A, NM_199460.4:c.4047C>G, NM_199460.4:c.4047C>T, NM_199460.3:c.4047C>A, NM_199460.3:c.4047C>G, NM_199460.3:c.4047C>T, NM_199460.2:c.4047C>A, NM_199460.2:c.4047C>G, NM_199460.2:c.4047C>T, NM_001129830.3:c.3903C>A, NM_001129830.3:c.3903C>G, NM_001129830.3:c.3903C>T, NM_001129830.2:c.3903C>A, NM_001129830.2:c.3903C>G, NM_001129830.2:c.3903C>T, NM_001129830.1:c.3903C>A, NM_001129830.1:c.3903C>G, NM_001129830.1:c.3903C>T, NM_001167625.2:c.3903C>A, NM_001167625.2:c.3903C>G, NM_001167625.2:c.3903C>T, NM_001167625.1:c.3903C>A, NM_001167625.1:c.3903C>G, NM_001167625.1:c.3903C>T, NM_001129827.2:c.4047C>A, NM_001129827.2:c.4047C>G, NM_001129827.2:c.4047C>T, NM_001129827.1:c.4047C>A, NM_001129827.1:c.4047C>G, NM_001129827.1:c.4047C>T, NM_001129829.2:c.3903C>A, NM_001129829.2:c.3903C>G, NM_001129829.2:c.3903C>T, NM_001129829.1:c.3903C>A, NM_001129829.1:c.3903C>G, NM_001129829.1:c.3903C>T, NM_001129831.2:c.3987C>A, NM_001129831.2:c.3987C>G, NM_001129831.2:c.3987C>T, NM_001129831.1:c.3987C>A, NM_001129831.1:c.3987C>G, NM_001129831.1:c.3987C>T, NM_001129832.2:c.3963C>A, NM_001129832.2:c.3963C>G, NM_001129832.2:c.3963C>T, NM_001129832.1:c.3963C>A, NM_001129832.1:c.3963C>G, NM_001129832.1:c.3963C>T, NM_001129835.2:c.3903C>A, NM_001129835.2:c.3903C>G, NM_001129835.2:c.3903C>T, NM_001129835.1:c.3903C>A, NM_001129835.1:c.3903C>G, NM_001129835.1:c.3903C>T, NM_001129834.2:c.3903C>A, NM_001129834.2:c.3903C>G, NM_001129834.2:c.3903C>T, NM_001129834.1:c.3903C>A, NM_001129834.1:c.3903C>G, NM_001129834.1:c.3903C>T, NM_001129836.2:c.3987C>A, NM_001129836.2:c.3987C>G, NM_001129836.2:c.3987C>T, NM_001129836.1:c.3987C>A, NM_001129836.1:c.3987C>G, NM_001129836.1:c.3987C>T, NM_001129838.2:c.3903C>A, NM_001129838.2:c.3903C>G, NM_001129838.2:c.3903C>T, NM_001129838.1:c.3903C>A, NM_001129838.1:c.3903C>G, NM_001129838.1:c.3903C>T, NM_001129837.2:c.3903C>A, NM_001129837.2:c.3903C>G, NM_001129837.2:c.3903C>T, NM_001129837.1:c.3903C>A, NM_001129837.1:c.3903C>G, NM_001129837.1:c.3903C>T, NM_001129839.2:c.3903C>A, NM_001129839.2:c.3903C>G, NM_001129839.2:c.3903C>T, NM_001129839.1:c.3903C>A, NM_001129839.1:c.3903C>G, NM_001129839.1:c.3903C>T, NM_001129843.2:c.3903C>A, NM_001129843.2:c.3903C>G, NM_001129843.2:c.3903C>T, NM_001129843.1:c.3903C>A, NM_001129843.1:c.3903C>G, NM_001129843.1:c.3903C>T, NM_001129840.2:c.3903C>A, NM_001129840.2:c.3903C>G, NM_001129840.2:c.3903C>T, NM_001129840.1:c.3903C>A, NM_001129840.1:c.3903C>G, NM_001129840.1:c.3903C>T, NM_001129846.2:c.3903C>A, NM_001129846.2:c.3903C>G, NM_001129846.2:c.3903C>T, NM_001129846.1:c.3903C>A, NM_001129846.1:c.3903C>G, NM_001129846.1:c.3903C>T, NW_018654718.1:g.982487C>A, NW_018654718.1:g.982487C>G, NW_018654718.1:g.982487C>T, XM_011521023.4:c.3978C>A, XM_011521023.4:c.3978C>G, XM_011521023.4:c.3978C>T, XM_011521023.3:c.3978C>A, XM_011521023.3:c.3978C>G, XM_011521023.3:c.3978C>T, XM_011521023.2:c.3978C>A, XM_011521023.2:c.3978C>G, XM_011521023.2:c.3978C>T, XM_011521023.1:c.3978C>A, XM_011521023.1:c.3978C>G, XM_011521023.1:c.3978C>T, XM_017019926.3:c.4350C>A, XM_017019926.3:c.4350C>G, XM_017019926.3:c.4350C>T, XM_017019926.2:c.4350C>A, XM_017019926.2:c.4350C>G, XM_017019926.2:c.4350C>T, XM_017019926.1:c.4350C>A, XM_017019926.1:c.4350C>G, XM_017019926.1:c.4350C>T, XM_017019927.3:c.4350C>A, XM_017019927.3:c.4350C>G, XM_017019927.3:c.4350C>T, XM_017019927.2:c.4350C>A, XM_017019927.2:c.4350C>G, XM_017019927.2:c.4350C>T, XM_017019927.1:c.4350C>A, XM_017019927.1:c.4350C>G, XM_017019927.1:c.4350C>T, XM_017019928.3:c.4350C>A, XM_017019928.3:c.4350C>G, XM_017019928.3:c.4350C>T, XM_017019928.2:c.4350C>A, XM_017019928.2:c.4350C>G, XM_017019928.2:c.4350C>T, XM_017019928.1:c.4350C>A, XM_017019928.1:c.4350C>G, XM_017019928.1:c.4350C>T, XM_017019930.3:c.4350C>A, XM_017019930.3:c.4350C>G, XM_017019930.3:c.4350C>T, XM_017019930.2:c.4350C>A, XM_017019930.2:c.4350C>G, XM_017019930.2:c.4350C>T, XM_017019930.1:c.4350C>A, XM_017019930.1:c.4350C>G, XM_017019930.1:c.4350C>T, XM_017019929.3:c.4350C>A, XM_017019929.3:c.4350C>G, XM_017019929.3:c.4350C>T, XM_017019929.2:c.4350C>A, XM_017019929.2:c.4350C>G, XM_017019929.2:c.4350C>T, XM_017019929.1:c.4350C>A, XM_017019929.1:c.4350C>G, XM_017019929.1:c.4350C>T, XM_017019931.3:c.4266C>A, XM_017019931.3:c.4266C>G, XM_017019931.3:c.4266C>T, XM_017019931.2:c.4266C>A, XM_017019931.2:c.4266C>G, XM_017019931.2:c.4266C>T, XM_017019931.1:c.4266C>A, XM_017019931.1:c.4266C>G, XM_017019931.1:c.4266C>T, XM_017019932.3:c.4071C>A, XM_017019932.3:c.4071C>G, XM_017019932.3:c.4071C>T, XM_017019932.2:c.4071C>A, XM_017019932.2:c.4071C>G, XM_017019932.2:c.4071C>T, XM_017019932.1:c.4071C>A, XM_017019932.1:c.4071C>G, XM_017019932.1:c.4071C>T, XM_017019933.3:c.4155C>A, XM_017019933.3:c.4155C>G, XM_017019933.3:c.4155C>T, XM_017019933.2:c.4155C>A, XM_017019933.2:c.4155C>G, XM_017019933.2:c.4155C>T, XM_017019933.1:c.4155C>A, XM_017019933.1:c.4155C>G, XM_017019933.1:c.4155C>T, XM_017019955.3:c.4146C>A, XM_017019955.3:c.4146C>G, XM_017019955.3:c.4146C>T, XM_017019955.2:c.4146C>A, XM_017019955.2:c.4146C>G, XM_017019955.2:c.4146C>T, XM_017019955.1:c.4146C>A, XM_017019955.1:c.4146C>G, XM_017019955.1:c.4146C>T, XM_017019935.3:c.4146C>A, XM_017019935.3:c.4146C>G, XM_017019935.3:c.4146C>T, XM_017019935.2:c.4146C>A, XM_017019935.2:c.4146C>G, XM_017019935.2:c.4146C>T, XM_017019935.1:c.4146C>A, XM_017019935.1:c.4146C>G, XM_017019935.1:c.4146C>T, XM_017019939.3:c.4155C>A, XM_017019939.3:c.4155C>G, XM_017019939.3:c.4155C>T, XM_017019939.2:c.4155C>A, XM_017019939.2:c.4155C>G, XM_017019939.2:c.4155C>T, XM_017019939.1:c.4155C>A, XM_017019939.1:c.4155C>G, XM_017019939.1:c.4155C>T, XM_017019947.3:c.4071C>A, XM_017019947.3:c.4071C>G, XM_017019947.3:c.4071C>T, XM_017019947.2:c.4071C>A, XM_017019947.2:c.4071C>G, XM_017019947.2:c.4071C>T, XM_017019947.1:c.4071C>A, XM_017019947.1:c.4071C>G, XM_017019947.1:c.4071C>T, XM_017019945.3:c.4071C>A, XM_017019945.3:c.4071C>G, XM_017019945.3:c.4071C>T, XM_017019945.2:c.4071C>A, XM_017019945.2:c.4071C>G, XM_017019945.2:c.4071C>T, XM_017019945.1:c.4071C>A, XM_017019945.1:c.4071C>G, XM_017019945.1:c.4071C>T, XM_017019943.3:c.4071C>A, XM_017019943.3:c.4071C>G, XM_017019943.3:c.4071C>T, XM_017019943.2:c.4071C>A, XM_017019943.2:c.4071C>G, XM_017019943.2:c.4071C>T, XM_017019943.1:c.4071C>A, XM_017019943.1:c.4071C>G, XM_017019943.1:c.4071C>T, XM_017019950.3:c.4071C>A, XM_017019950.3:c.4071C>G, XM_017019950.3:c.4071C>T, XM_017019950.2:c.4071C>A, XM_017019950.2:c.4071C>G, XM_017019950.2:c.4071C>T, XM_017019950.1:c.4071C>A, XM_017019950.1:c.4071C>G, XM_017019950.1:c.4071C>T, XM_006719017.3:c.3993C>A, XM_006719017.3:c.3993C>G, XM_006719017.3:c.3993C>T, XM_006719017.2:c.3993C>A, XM_006719017.2:c.3993C>G, XM_006719017.2:c.3993C>T, XM_006719017.1:c.3993C>A, XM_006719017.1:c.3993C>G, XM_006719017.1:c.3993C>T, XM_047429516.1:c.4266C>A, XM_047429516.1:c.4266C>G, XM_047429516.1:c.4266C>T, XM_047429518.1:c.4266C>A, XM_047429518.1:c.4266C>G, XM_047429518.1:c.4266C>T, XM_047429517.1:c.4266C>A, XM_047429517.1:c.4266C>G, XM_047429517.1:c.4266C>T, XM_047429514.1:c.4350C>A, XM_047429514.1:c.4350C>G, XM_047429514.1:c.4350C>T, XM_047429513.1:c.4350C>A, XM_047429513.1:c.4350C>G, XM_047429513.1:c.4350C>T, XM_047429520.1:c.3099C>A, XM_047429520.1:c.3099C>G, XM_047429520.1:c.3099C>T

        4.

        rs1489137722 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          12:1971191 (GRCh38)
          12:2080357 (GRCh37)
          Canonical SPDI:
          NC_000012.12:1971190:C:A,NC_000012.12:1971190:C:T
          Gene:
          CACNA1C (Varview), DCP1B (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
          HGVS:
          NC_000012.12:g.1971191C>A, NC_000012.12:g.1971191C>T, NC_000012.11:g.2080357C>A, NC_000012.11:g.2080357C>T, NG_008801.2:g.5406C>A, NG_008801.2:g.5406C>T, NW_018654718.1:g.313335C>A, NW_018654718.1:g.313335C>T, XM_017019926.3:c.129C>A, XM_017019926.3:c.129C>T, XM_017019926.2:c.129C>A, XM_017019926.2:c.129C>T, XM_017019926.1:c.129C>A, XM_017019926.1:c.129C>T, XM_017019927.3:c.129C>A, XM_017019927.3:c.129C>T, XM_017019927.2:c.129C>A, XM_017019927.2:c.129C>T, XM_017019927.1:c.129C>A, XM_017019927.1:c.129C>T, XM_017019928.3:c.129C>A, XM_017019928.3:c.129C>T, XM_017019928.2:c.129C>A, XM_017019928.2:c.129C>T, XM_017019928.1:c.129C>A, XM_017019928.1:c.129C>T, XM_017019930.3:c.129C>A, XM_017019930.3:c.129C>T, XM_017019930.2:c.129C>A, XM_017019930.2:c.129C>T, XM_017019930.1:c.129C>A, XM_017019930.1:c.129C>T, XM_017019929.3:c.129C>A, XM_017019929.3:c.129C>T, XM_017019929.2:c.129C>A, XM_017019929.2:c.129C>T, XM_017019929.1:c.129C>A, XM_017019929.1:c.129C>T, XM_017019931.3:c.129C>A, XM_017019931.3:c.129C>T, XM_017019931.2:c.129C>A, XM_017019931.2:c.129C>T, XM_017019931.1:c.129C>A, XM_017019931.1:c.129C>T, XM_017019932.3:c.129C>A, XM_017019932.3:c.129C>T, XM_017019932.2:c.129C>A, XM_017019932.2:c.129C>T, XM_017019932.1:c.129C>A, XM_017019932.1:c.129C>T, XM_017019933.3:c.129C>A, XM_017019933.3:c.129C>T, XM_017019933.2:c.129C>A, XM_017019933.2:c.129C>T, XM_017019933.1:c.129C>A, XM_017019933.1:c.129C>T, XM_017019955.3:c.129C>A, XM_017019955.3:c.129C>T, XM_017019955.2:c.129C>A, XM_017019955.2:c.129C>T, XM_017019955.1:c.129C>A, XM_017019955.1:c.129C>T, XM_017019935.3:c.129C>A, XM_017019935.3:c.129C>T, XM_017019935.2:c.129C>A, XM_017019935.2:c.129C>T, XM_017019935.1:c.129C>A, XM_017019935.1:c.129C>T, XM_017019934.3:c.129C>A, XM_017019934.3:c.129C>T, XM_017019934.2:c.129C>A, XM_017019934.2:c.129C>T, XM_017019934.1:c.129C>A, XM_017019934.1:c.129C>T, XM_017019939.3:c.129C>A, XM_017019939.3:c.129C>T, XM_017019939.2:c.129C>A, XM_017019939.2:c.129C>T, XM_017019939.1:c.129C>A, XM_017019939.1:c.129C>T, XM_017019949.3:c.129C>A, XM_017019949.3:c.129C>T, XM_017019949.2:c.129C>A, XM_017019949.2:c.129C>T, XM_017019949.1:c.129C>A, XM_017019949.1:c.129C>T, XM_017019948.3:c.129C>A, XM_017019948.3:c.129C>T, XM_017019948.2:c.129C>A, XM_017019948.2:c.129C>T, XM_017019948.1:c.129C>A, XM_017019948.1:c.129C>T, XM_017019947.3:c.129C>A, XM_017019947.3:c.129C>T, XM_017019947.2:c.129C>A, XM_017019947.2:c.129C>T, XM_017019947.1:c.129C>A, XM_017019947.1:c.129C>T, XM_017019946.3:c.129C>A, XM_017019946.3:c.129C>T, XM_017019946.2:c.129C>A, XM_017019946.2:c.129C>T, XM_017019946.1:c.129C>A, XM_017019946.1:c.129C>T, XM_017019945.3:c.129C>A, XM_017019945.3:c.129C>T, XM_017019945.2:c.129C>A, XM_017019945.2:c.129C>T, XM_017019945.1:c.129C>A, XM_017019945.1:c.129C>T, XM_017019944.3:c.129C>A, XM_017019944.3:c.129C>T, XM_017019944.2:c.129C>A, XM_017019944.2:c.129C>T, XM_017019944.1:c.129C>A, XM_017019944.1:c.129C>T, XM_017019943.3:c.129C>A, XM_017019943.3:c.129C>T, XM_017019943.2:c.129C>A, XM_017019943.2:c.129C>T, XM_017019943.1:c.129C>A, XM_017019943.1:c.129C>T, XM_011521020.3:c.129C>A, XM_011521020.3:c.129C>T, XM_011521020.2:c.129C>A, XM_011521020.2:c.129C>T, XM_011521020.1:c.129C>A, XM_011521020.1:c.129C>T, XM_017019950.3:c.129C>A, XM_017019950.3:c.129C>T, XM_017019950.2:c.129C>A, XM_017019950.2:c.129C>T, XM_017019950.1:c.129C>A, XM_017019950.1:c.129C>T, XM_006719017.3:c.129C>A, XM_006719017.3:c.129C>T, XM_006719017.2:c.129C>A, XM_006719017.2:c.129C>T, XM_006719017.1:c.129C>A, XM_006719017.1:c.129C>T, XM_017019954.2:c.129C>A, XM_017019954.2:c.129C>T, XM_017019954.1:c.129C>A, XM_017019954.1:c.129C>T, XM_017019953.2:c.129C>A, XM_017019953.2:c.129C>T, XM_017019953.1:c.129C>A, XM_017019953.1:c.129C>T, XM_047429513.1:c.129C>A, XM_047429513.1:c.129C>T, XM_047429514.1:c.129C>A, XM_047429514.1:c.129C>T, XM_047429516.1:c.129C>A, XM_047429516.1:c.129C>T, XM_047429515.1:c.129C>A, XM_047429515.1:c.129C>T, XM_047429518.1:c.129C>A, XM_047429518.1:c.129C>T, XM_047429517.1:c.129C>A, XM_047429517.1:c.129C>T, XM_047429519.1:c.129C>A, XM_047429519.1:c.129C>T

          5.

          rs1488723696 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:2682550 (GRCh38)
            12:2791716 (GRCh37)
            Canonical SPDI:
            NC_000012.12:2682549:G:A
            Gene:
            CACNA1C (Varview), CACNA1C-AS1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant
            HGVS:
            NC_000012.12:g.2682550G>A, NC_000012.11:g.2791716G>A, NG_008801.2:g.716765G>A, NM_000719.7:c.5445G>A, NM_000719.6:c.5445G>A, NM_199460.4:c.5694G>A, NM_199460.3:c.5694G>A, NM_199460.2:c.5694G>A, NM_001167624.3:c.5550G>A, NM_001167624.2:c.5550G>A, NM_001167624.1:c.5550G>A, NM_001129830.3:c.5550G>A, NM_001129830.2:c.5550G>A, NM_001129830.1:c.5550G>A, NM_001167625.2:c.5625G>A, NM_001167625.1:c.5625G>A, NM_001129827.2:c.5589G>A, NM_001129827.1:c.5589G>A, NM_001129829.2:c.5568G>A, NM_001129829.1:c.5568G>A, NM_001129831.2:c.5529G>A, NM_001129831.1:c.5529G>A, NM_001129832.2:c.5505G>A, NM_001129832.1:c.5505G>A, NM_001129835.2:c.5502G>A, NM_001129835.1:c.5502G>A, NM_001129834.2:c.5502G>A, NM_001129834.1:c.5502G>A, NM_001129833.2:c.5502G>A, NM_001129833.1:c.5502G>A, NM_001129836.2:c.5496G>A, NM_001129836.1:c.5496G>A, NM_001129838.2:c.5469G>A, NM_001129838.1:c.5469G>A, NM_001129837.2:c.5469G>A, NM_001129837.1:c.5469G>A, NM_001129839.2:c.5463G>A, NM_001129839.1:c.5463G>A, NM_001167623.2:c.5445G>A, NM_001167623.1:c.5445G>A, NM_001129843.2:c.5445G>A, NM_001129843.1:c.5445G>A, NM_001129842.2:c.5445G>A, NM_001129842.1:c.5445G>A, NM_001129841.2:c.5445G>A, NM_001129841.1:c.5445G>A, NM_001129840.2:c.5445G>A, NM_001129840.1:c.5445G>A, NM_001129844.2:c.5436G>A, NM_001129844.1:c.5436G>A, NM_001129846.2:c.5412G>A, NM_001129846.1:c.5412G>A, NW_018654718.1:g.1030666G>A, XM_011521023.4:c.5520G>A, XM_011521023.3:c.5520G>A, XM_011521023.2:c.5520G>A, XM_011521023.1:c.5520G>A, XM_017019926.3:c.6267G>A, XM_017019926.2:c.6267G>A, XM_017019926.1:c.6267G>A, XM_017019927.3:c.6162G>A, XM_017019927.2:c.6162G>A, XM_017019927.1:c.6162G>A, XM_017019928.3:c.5949G>A, XM_017019928.2:c.5949G>A, XM_017019928.1:c.5949G>A, XM_017019930.3:c.5892G>A, XM_017019930.2:c.5892G>A, XM_017019930.1:c.5892G>A, XM_017019929.3:c.5892G>A, XM_017019929.2:c.5892G>A, XM_017019929.1:c.5892G>A, XM_017019931.3:c.5808G>A, XM_017019931.2:c.5808G>A, XM_017019931.1:c.5808G>A, XM_017019932.3:c.5793G>A, XM_017019932.2:c.5793G>A, XM_017019932.1:c.5793G>A, XM_017019933.3:c.5697G>A, XM_017019933.2:c.5697G>A, XM_017019933.1:c.5697G>A, XM_017019955.3:c.5688G>A, XM_017019955.2:c.5688G>A, XM_017019955.1:c.5688G>A, XM_017019935.3:c.5688G>A, XM_017019935.2:c.5688G>A, XM_017019935.1:c.5688G>A, XM_017019934.3:c.5688G>A, XM_017019934.2:c.5688G>A, XM_017019934.1:c.5688G>A, XM_017019939.3:c.5664G>A, XM_017019939.2:c.5664G>A, XM_017019939.1:c.5664G>A, XM_017019949.3:c.5613G>A, XM_017019949.2:c.5613G>A, XM_017019949.1:c.5613G>A, XM_017019948.3:c.5613G>A, XM_017019948.2:c.5613G>A, XM_017019948.1:c.5613G>A, XM_017019947.3:c.5613G>A, XM_017019947.2:c.5613G>A, XM_017019947.1:c.5613G>A, XM_017019946.3:c.5613G>A, XM_017019946.2:c.5613G>A, XM_017019946.1:c.5613G>A, XM_017019954.2:c.5535G>A, XM_017019954.1:c.5535G>A, XM_017019953.2:c.5535G>A, XM_017019953.1:c.5535G>A, XM_017019945.3:c.5613G>A, XM_017019945.2:c.5613G>A, XM_017019945.1:c.5613G>A, XM_017019944.3:c.5613G>A, XM_017019944.2:c.5613G>A, XM_017019944.1:c.5613G>A, XM_017019943.3:c.5613G>A, XM_017019943.2:c.5613G>A, XM_017019943.1:c.5613G>A, XM_011521020.3:c.5610G>A, XM_011521020.2:c.5610G>A, XM_011521020.1:c.5610G>A, XM_017019950.3:c.5607G>A, XM_017019950.2:c.5607G>A, XM_017019950.1:c.5607G>A, XM_006719017.3:c.5535G>A, XM_006719017.2:c.5535G>A, XM_006719017.1:c.5535G>A, XM_047429515.1:c.5808G>A, XM_047429518.1:c.5775G>A, XM_047429517.1:c.5775G>A, XM_047429519.1:c.5688G>A, XM_047429520.1:c.4608G>A, XM_047429513.1:c.6105G>A, XM_047429514.1:c.5886G>A, XM_047429516.1:c.5808G>A

            6.

            rs1485904735 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              12:2677752 (GRCh38)
              12:2786918 (GRCh37)
              Canonical SPDI:
              NC_000012.12:2677751:A:C
              Gene:
              CACNA1C (Varview), CACNA1C-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              HGVS:
              NC_000012.12:g.2677752A>C, NC_000012.11:g.2786918A>C, NG_008801.2:g.711967A>C, NM_000719.7:c.4976A>C, NM_000719.6:c.4976A>C, NM_199460.4:c.5120A>C, NM_199460.3:c.5120A>C, NM_199460.2:c.5120A>C, NM_001167624.3:c.4976A>C, NM_001167624.2:c.4976A>C, NM_001167624.1:c.4976A>C, NM_001129830.3:c.4976A>C, NM_001129830.2:c.4976A>C, NM_001129830.1:c.4976A>C, NM_001167625.2:c.4943A>C, NM_001167625.1:c.4943A>C, NM_001129827.2:c.5120A>C, NM_001129827.1:c.5120A>C, NM_001129829.2:c.5099A>C, NM_001129829.1:c.5099A>C, NM_001129831.2:c.5060A>C, NM_001129831.1:c.5060A>C, NM_001129832.2:c.5036A>C, NM_001129832.1:c.5036A>C, NM_001129835.2:c.5033A>C, NM_001129835.1:c.5033A>C, NM_001129834.2:c.5033A>C, NM_001129834.1:c.5033A>C, NM_001129833.2:c.5033A>C, NM_001129833.1:c.5033A>C, NM_001129836.2:c.5027A>C, NM_001129836.1:c.5027A>C, NM_001129838.2:c.5000A>C, NM_001129838.1:c.5000A>C, NM_001129837.2:c.5000A>C, NM_001129837.1:c.5000A>C, NM_001129839.2:c.4994A>C, NM_001129839.1:c.4994A>C, NM_001167623.2:c.4976A>C, NM_001167623.1:c.4976A>C, NM_001129843.2:c.4976A>C, NM_001129843.1:c.4976A>C, NM_001129842.2:c.4976A>C, NM_001129842.1:c.4976A>C, NM_001129841.2:c.4976A>C, NM_001129841.1:c.4976A>C, NM_001129840.2:c.4976A>C, NM_001129840.1:c.4976A>C, NM_001129844.2:c.4967A>C, NM_001129844.1:c.4967A>C, NM_001129846.2:c.4943A>C, NM_001129846.1:c.4943A>C, NW_018654718.1:g.1025868A>C, XM_011521023.4:c.5051A>C, XM_011521023.3:c.5051A>C, XM_011521023.2:c.5051A>C, XM_011521023.1:c.5051A>C, XM_017019926.3:c.5480A>C, XM_017019926.2:c.5480A>C, XM_017019926.1:c.5480A>C, XM_017019927.3:c.5480A>C, XM_017019927.2:c.5480A>C, XM_017019927.1:c.5480A>C, XM_017019928.3:c.5480A>C, XM_017019928.2:c.5480A>C, XM_017019928.1:c.5480A>C, XM_017019930.3:c.5423A>C, XM_017019930.2:c.5423A>C, XM_017019930.1:c.5423A>C, XM_017019929.3:c.5423A>C, XM_017019929.2:c.5423A>C, XM_017019929.1:c.5423A>C, XM_017019931.3:c.5339A>C, XM_017019931.2:c.5339A>C, XM_017019931.1:c.5339A>C, XM_017019932.3:c.5111A>C, XM_017019932.2:c.5111A>C, XM_017019932.1:c.5111A>C, XM_017019933.3:c.5228A>C, XM_017019933.2:c.5228A>C, XM_017019933.1:c.5228A>C, XM_017019955.3:c.5219A>C, XM_017019955.2:c.5219A>C, XM_017019955.1:c.5219A>C, XM_017019935.3:c.5219A>C, XM_017019935.2:c.5219A>C, XM_017019935.1:c.5219A>C, XM_017019934.3:c.5219A>C, XM_017019934.2:c.5219A>C, XM_017019934.1:c.5219A>C, XM_017019939.3:c.5195A>C, XM_017019939.2:c.5195A>C, XM_017019939.1:c.5195A>C, XM_017019949.3:c.5144A>C, XM_017019949.2:c.5144A>C, XM_017019949.1:c.5144A>C, XM_017019948.3:c.5144A>C, XM_017019948.2:c.5144A>C, XM_017019948.1:c.5144A>C, XM_017019947.3:c.5144A>C, XM_017019947.2:c.5144A>C, XM_017019947.1:c.5144A>C, XM_017019946.3:c.5144A>C, XM_017019946.2:c.5144A>C, XM_017019946.1:c.5144A>C, XM_017019954.2:c.5066A>C, XM_017019954.1:c.5066A>C, XM_017019953.2:c.5066A>C, XM_017019953.1:c.5066A>C, XM_017019945.3:c.5144A>C, XM_017019945.2:c.5144A>C, XM_017019945.1:c.5144A>C, XM_017019944.3:c.5144A>C, XM_017019944.2:c.5144A>C, XM_017019944.1:c.5144A>C, XM_017019943.3:c.5144A>C, XM_017019943.2:c.5144A>C, XM_017019943.1:c.5144A>C, XM_011521020.3:c.5141A>C, XM_011521020.2:c.5141A>C, XM_011521020.1:c.5141A>C, XM_017019950.3:c.5138A>C, XM_017019950.2:c.5138A>C, XM_017019950.1:c.5138A>C, XM_006719017.3:c.5066A>C, XM_006719017.2:c.5066A>C, XM_006719017.1:c.5066A>C, NR_045725.1:n.479T>G, XM_047429515.1:c.5339A>C, XM_047429520.1:c.4139A>C, XM_047429513.1:c.5423A>C, XM_047429514.1:c.5417A>C, XM_047429518.1:c.5306A>C, XM_047429517.1:c.5306A>C, XM_047429519.1:c.5219A>C, XM_047429516.1:c.5339A>C, NP_000710.5:p.His1659Pro, NP_955630.3:p.His1707Pro, NP_001161096.2:p.His1659Pro, NP_001123302.2:p.His1659Pro, NP_001161097.1:p.His1648Pro, NP_001123299.1:p.His1707Pro, NP_001123301.1:p.His1700Pro, NP_001123303.1:p.His1687Pro, NP_001123304.1:p.His1679Pro, NP_001123307.1:p.His1678Pro, NP_001123306.1:p.His1678Pro, NP_001123305.1:p.His1678Pro, NP_001123308.1:p.His1676Pro, NP_001123310.1:p.His1667Pro, NP_001123309.1:p.His1667Pro, NP_001123311.1:p.His1665Pro, NP_001161095.1:p.His1659Pro, NP_001123315.1:p.His1659Pro, NP_001123314.1:p.His1659Pro, NP_001123313.1:p.His1659Pro, NP_001123312.1:p.His1659Pro, NP_001123316.1:p.His1656Pro, NP_001123318.1:p.His1648Pro, XP_011519325.1:p.His1684Pro, XP_016875415.1:p.His1827Pro, XP_016875416.1:p.His1827Pro, XP_016875417.1:p.His1827Pro, XP_016875419.1:p.His1808Pro, XP_016875418.1:p.His1808Pro, XP_016875420.1:p.His1780Pro, XP_016875421.1:p.His1704Pro, XP_016875422.1:p.His1743Pro, XP_016875444.1:p.His1740Pro, XP_016875424.1:p.His1740Pro, XP_016875423.1:p.His1740Pro, XP_016875428.1:p.His1732Pro, XP_016875438.1:p.His1715Pro, XP_016875437.1:p.His1715Pro, XP_016875436.1:p.His1715Pro, XP_016875435.1:p.His1715Pro, XP_016875443.1:p.His1689Pro, XP_016875442.1:p.His1689Pro, XP_016875434.1:p.His1715Pro, XP_016875433.1:p.His1715Pro, XP_016875432.1:p.His1715Pro, XP_011519322.1:p.His1714Pro, XP_016875439.1:p.His1713Pro, XP_006719080.1:p.His1689Pro, XP_047285471.1:p.His1780Pro, XP_047285476.1:p.His1380Pro, XP_047285469.1:p.His1808Pro, XP_047285470.1:p.His1806Pro, XP_047285474.1:p.His1769Pro, XP_047285473.1:p.His1769Pro, XP_047285475.1:p.His1740Pro, XP_047285472.1:p.His1780Pro

              7.

              rs1485707504 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:2679481 (GRCh38)
                12:2788647 (GRCh37)
                Canonical SPDI:
                NC_000012.12:2679480:A:G
                Gene:
                CACNA1C (Varview), CACNA1C-AS1 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.2679481A>G, NC_000012.11:g.2788647A>G, NG_008801.2:g.713696A>G, NM_000719.7:c.5129A>G, NM_000719.6:c.5129A>G, NM_199460.4:c.5273A>G, NM_199460.3:c.5273A>G, NM_199460.2:c.5273A>G, NM_001167624.3:c.5129A>G, NM_001167624.2:c.5129A>G, NM_001167624.1:c.5129A>G, NM_001129830.3:c.5129A>G, NM_001129830.2:c.5129A>G, NM_001129830.1:c.5129A>G, NM_001167625.2:c.5096A>G, NM_001167625.1:c.5096A>G, NM_001129827.2:c.5273A>G, NM_001129827.1:c.5273A>G, NM_001129829.2:c.5252A>G, NM_001129829.1:c.5252A>G, NM_001129831.2:c.5213A>G, NM_001129831.1:c.5213A>G, NM_001129832.2:c.5189A>G, NM_001129832.1:c.5189A>G, NM_001129835.2:c.5186A>G, NM_001129835.1:c.5186A>G, NM_001129834.2:c.5186A>G, NM_001129834.1:c.5186A>G, NM_001129833.2:c.5186A>G, NM_001129833.1:c.5186A>G, NM_001129836.2:c.5180A>G, NM_001129836.1:c.5180A>G, NM_001129838.2:c.5153A>G, NM_001129838.1:c.5153A>G, NM_001129837.2:c.5153A>G, NM_001129837.1:c.5153A>G, NM_001129839.2:c.5147A>G, NM_001129839.1:c.5147A>G, NM_001167623.2:c.5129A>G, NM_001167623.1:c.5129A>G, NM_001129843.2:c.5129A>G, NM_001129843.1:c.5129A>G, NM_001129842.2:c.5129A>G, NM_001129842.1:c.5129A>G, NM_001129841.2:c.5129A>G, NM_001129841.1:c.5129A>G, NM_001129840.2:c.5129A>G, NM_001129840.1:c.5129A>G, NM_001129844.2:c.5120A>G, NM_001129844.1:c.5120A>G, NM_001129846.2:c.5096A>G, NM_001129846.1:c.5096A>G, NW_018654718.1:g.1027597A>G, XM_011521023.4:c.5204A>G, XM_011521023.3:c.5204A>G, XM_011521023.2:c.5204A>G, XM_011521023.1:c.5204A>G, XM_017019926.3:c.5633A>G, XM_017019926.2:c.5633A>G, XM_017019926.1:c.5633A>G, XM_017019927.3:c.5633A>G, XM_017019927.2:c.5633A>G, XM_017019927.1:c.5633A>G, XM_017019928.3:c.5633A>G, XM_017019928.2:c.5633A>G, XM_017019928.1:c.5633A>G, XM_017019930.3:c.5576A>G, XM_017019930.2:c.5576A>G, XM_017019930.1:c.5576A>G, XM_017019929.3:c.5576A>G, XM_017019929.2:c.5576A>G, XM_017019929.1:c.5576A>G, XM_017019931.3:c.5492A>G, XM_017019931.2:c.5492A>G, XM_017019931.1:c.5492A>G, XM_017019932.3:c.5264A>G, XM_017019932.2:c.5264A>G, XM_017019932.1:c.5264A>G, XM_017019933.3:c.5381A>G, XM_017019933.2:c.5381A>G, XM_017019933.1:c.5381A>G, XM_017019955.3:c.5372A>G, XM_017019955.2:c.5372A>G, XM_017019955.1:c.5372A>G, XM_017019935.3:c.5372A>G, XM_017019935.2:c.5372A>G, XM_017019935.1:c.5372A>G, XM_017019934.3:c.5372A>G, XM_017019934.2:c.5372A>G, XM_017019934.1:c.5372A>G, XM_017019939.3:c.5348A>G, XM_017019939.2:c.5348A>G, XM_017019939.1:c.5348A>G, XM_017019949.3:c.5297A>G, XM_017019949.2:c.5297A>G, XM_017019949.1:c.5297A>G, XM_017019948.3:c.5297A>G, XM_017019948.2:c.5297A>G, XM_017019948.1:c.5297A>G, XM_017019947.3:c.5297A>G, XM_017019947.2:c.5297A>G, XM_017019947.1:c.5297A>G, XM_017019946.3:c.5297A>G, XM_017019946.2:c.5297A>G, XM_017019946.1:c.5297A>G, XM_017019954.2:c.5219A>G, XM_017019954.1:c.5219A>G, XM_017019953.2:c.5219A>G, XM_017019953.1:c.5219A>G, XM_017019945.3:c.5297A>G, XM_017019945.2:c.5297A>G, XM_017019945.1:c.5297A>G, XM_017019944.3:c.5297A>G, XM_017019944.2:c.5297A>G, XM_017019944.1:c.5297A>G, XM_017019943.3:c.5297A>G, XM_017019943.2:c.5297A>G, XM_017019943.1:c.5297A>G, XM_011521020.3:c.5294A>G, XM_011521020.2:c.5294A>G, XM_011521020.1:c.5294A>G, XM_017019950.3:c.5291A>G, XM_017019950.2:c.5291A>G, XM_017019950.1:c.5291A>G, XM_006719017.3:c.5219A>G, XM_006719017.2:c.5219A>G, XM_006719017.1:c.5219A>G, XM_047429515.1:c.5492A>G, XM_047429518.1:c.5459A>G, XM_047429517.1:c.5459A>G, XM_047429519.1:c.5372A>G, XM_047429520.1:c.4292A>G, XM_047429513.1:c.5576A>G, XM_047429514.1:c.5570A>G, XM_047429516.1:c.5492A>G, NP_000710.5:p.Tyr1710Cys, NP_955630.3:p.Tyr1758Cys, NP_001161096.2:p.Tyr1710Cys, NP_001123302.2:p.Tyr1710Cys, NP_001161097.1:p.Tyr1699Cys, NP_001123299.1:p.Tyr1758Cys, NP_001123301.1:p.Tyr1751Cys, NP_001123303.1:p.Tyr1738Cys, NP_001123304.1:p.Tyr1730Cys, NP_001123307.1:p.Tyr1729Cys, NP_001123306.1:p.Tyr1729Cys, NP_001123305.1:p.Tyr1729Cys, NP_001123308.1:p.Tyr1727Cys, NP_001123310.1:p.Tyr1718Cys, NP_001123309.1:p.Tyr1718Cys, NP_001123311.1:p.Tyr1716Cys, NP_001161095.1:p.Tyr1710Cys, NP_001123315.1:p.Tyr1710Cys, NP_001123314.1:p.Tyr1710Cys, NP_001123313.1:p.Tyr1710Cys, NP_001123312.1:p.Tyr1710Cys, NP_001123316.1:p.Tyr1707Cys, NP_001123318.1:p.Tyr1699Cys, XP_011519325.1:p.Tyr1735Cys, XP_016875415.1:p.Tyr1878Cys, XP_016875416.1:p.Tyr1878Cys, XP_016875417.1:p.Tyr1878Cys, XP_016875419.1:p.Tyr1859Cys, XP_016875418.1:p.Tyr1859Cys, XP_016875420.1:p.Tyr1831Cys, XP_016875421.1:p.Tyr1755Cys, XP_016875422.1:p.Tyr1794Cys, XP_016875444.1:p.Tyr1791Cys, XP_016875424.1:p.Tyr1791Cys, XP_016875423.1:p.Tyr1791Cys, XP_016875428.1:p.Tyr1783Cys, XP_016875438.1:p.Tyr1766Cys, XP_016875437.1:p.Tyr1766Cys, XP_016875436.1:p.Tyr1766Cys, XP_016875435.1:p.Tyr1766Cys, XP_016875443.1:p.Tyr1740Cys, XP_016875442.1:p.Tyr1740Cys, XP_016875434.1:p.Tyr1766Cys, XP_016875433.1:p.Tyr1766Cys, XP_016875432.1:p.Tyr1766Cys, XP_011519322.1:p.Tyr1765Cys, XP_016875439.1:p.Tyr1764Cys, XP_006719080.1:p.Tyr1740Cys, XP_047285471.1:p.Tyr1831Cys, XP_047285474.1:p.Tyr1820Cys, XP_047285473.1:p.Tyr1820Cys, XP_047285475.1:p.Tyr1791Cys, XP_047285476.1:p.Tyr1431Cys, XP_047285469.1:p.Tyr1859Cys, XP_047285470.1:p.Tyr1857Cys, XP_047285472.1:p.Tyr1831Cys

                8.

                rs1485010033 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:2581747 (GRCh38)
                  12:2690913 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:2581746:C:T
                  Gene:
                  CACNA1C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.2581747C>T, NC_000012.11:g.2690913C>T, NG_008801.2:g.615962C>T, NM_000719.7:c.2053C>T, NM_000719.6:c.2053C>T, NM_199460.4:c.2053C>T, NM_199460.3:c.2053C>T, NM_199460.2:c.2053C>T, NM_001167624.3:c.2053C>T, NM_001167624.2:c.2053C>T, NM_001167624.1:c.2053C>T, NM_001129830.3:c.2053C>T, NM_001129830.2:c.2053C>T, NM_001129830.1:c.2053C>T, NM_001167625.2:c.2053C>T, NM_001167625.1:c.2053C>T, NM_001129827.2:c.2053C>T, NM_001129827.1:c.2053C>T, NM_001129829.2:c.2053C>T, NM_001129829.1:c.2053C>T, NM_001129831.2:c.2053C>T, NM_001129831.1:c.2053C>T, NM_001129832.2:c.2053C>T, NM_001129832.1:c.2053C>T, NM_001129835.2:c.2053C>T, NM_001129835.1:c.2053C>T, NM_001129834.2:c.2053C>T, NM_001129834.1:c.2053C>T, NM_001129833.2:c.2053C>T, NM_001129833.1:c.2053C>T, NM_001129836.2:c.2053C>T, NM_001129836.1:c.2053C>T, NM_001129838.2:c.2053C>T, NM_001129838.1:c.2053C>T, NM_001129837.2:c.2053C>T, NM_001129837.1:c.2053C>T, NM_001129839.2:c.2053C>T, NM_001129839.1:c.2053C>T, NM_001167623.2:c.2053C>T, NM_001167623.1:c.2053C>T, NM_001129843.2:c.2053C>T, NM_001129843.1:c.2053C>T, NM_001129842.2:c.2053C>T, NM_001129842.1:c.2053C>T, NM_001129841.2:c.2053C>T, NM_001129841.1:c.2053C>T, NM_001129840.2:c.2053C>T, NM_001129840.1:c.2053C>T, NM_001129844.2:c.2044C>T, NM_001129844.1:c.2044C>T, NM_001129846.2:c.2053C>T, NM_001129846.1:c.2053C>T, NW_018654718.1:g.929863C>T, XM_011521023.4:c.2128C>T, XM_011521023.3:c.2128C>T, XM_011521023.2:c.2128C>T, XM_011521023.1:c.2128C>T, XM_017019926.3:c.2416C>T, XM_017019926.2:c.2416C>T, XM_017019926.1:c.2416C>T, XM_017019927.3:c.2416C>T, XM_017019927.2:c.2416C>T, XM_017019927.1:c.2416C>T, XM_017019928.3:c.2416C>T, XM_017019928.2:c.2416C>T, XM_017019928.1:c.2416C>T, XM_017019930.3:c.2416C>T, XM_017019930.2:c.2416C>T, XM_017019930.1:c.2416C>T, XM_017019929.3:c.2416C>T, XM_017019929.2:c.2416C>T, XM_017019929.1:c.2416C>T, XM_017019931.3:c.2416C>T, XM_017019931.2:c.2416C>T, XM_017019931.1:c.2416C>T, XM_017019932.3:c.2221C>T, XM_017019932.2:c.2221C>T, XM_017019932.1:c.2221C>T, XM_017019933.3:c.2221C>T, XM_017019933.2:c.2221C>T, XM_017019933.1:c.2221C>T, XM_017019955.3:c.2296C>T, XM_017019955.2:c.2296C>T, XM_017019955.1:c.2296C>T, XM_017019935.3:c.2296C>T, XM_017019935.2:c.2296C>T, XM_017019935.1:c.2296C>T, XM_017019934.3:c.2296C>T, XM_017019934.2:c.2296C>T, XM_017019934.1:c.2296C>T, XM_017019939.3:c.2221C>T, XM_017019939.2:c.2221C>T, XM_017019939.1:c.2221C>T, XM_017019949.3:c.2221C>T, XM_017019949.2:c.2221C>T, XM_017019949.1:c.2221C>T, XM_017019948.3:c.2221C>T, XM_017019948.2:c.2221C>T, XM_017019948.1:c.2221C>T, XM_017019947.3:c.2221C>T, XM_017019947.2:c.2221C>T, XM_017019947.1:c.2221C>T, XM_017019945.3:c.2221C>T, XM_017019945.2:c.2221C>T, XM_017019945.1:c.2221C>T, XM_017019944.3:c.2221C>T, XM_017019944.2:c.2221C>T, XM_017019944.1:c.2221C>T, XM_017019943.3:c.2221C>T, XM_017019943.2:c.2221C>T, XM_017019943.1:c.2221C>T, XM_011521020.3:c.2218C>T, XM_011521020.2:c.2218C>T, XM_011521020.1:c.2218C>T, XM_017019954.2:c.2143C>T, XM_017019954.1:c.2143C>T, XM_017019953.2:c.2143C>T, XM_017019953.1:c.2143C>T, XM_017019946.3:c.2221C>T, XM_017019946.2:c.2221C>T, XM_017019946.1:c.2221C>T, XM_017019950.3:c.2221C>T, XM_017019950.2:c.2221C>T, XM_017019950.1:c.2221C>T, XM_006719017.3:c.2143C>T, XM_006719017.2:c.2143C>T, XM_006719017.1:c.2143C>T, XM_047429516.1:c.2416C>T, XM_047429515.1:c.2416C>T, XM_047429518.1:c.2416C>T, XM_047429517.1:c.2416C>T, XM_047429519.1:c.2296C>T, XM_047429514.1:c.2416C>T, XM_047429513.1:c.2416C>T, XM_047429520.1:c.1249C>T, NP_000710.5:p.Arg685Trp, NP_955630.3:p.Arg685Trp, NP_001161096.2:p.Arg685Trp, NP_001123302.2:p.Arg685Trp, NP_001161097.1:p.Arg685Trp, NP_001123299.1:p.Arg685Trp, NP_001123301.1:p.Arg685Trp, NP_001123303.1:p.Arg685Trp, NP_001123304.1:p.Arg685Trp, NP_001123307.1:p.Arg685Trp, NP_001123306.1:p.Arg685Trp, NP_001123305.1:p.Arg685Trp, NP_001123308.1:p.Arg685Trp, NP_001123310.1:p.Arg685Trp, NP_001123309.1:p.Arg685Trp, NP_001123311.1:p.Arg685Trp, NP_001161095.1:p.Arg685Trp, NP_001123315.1:p.Arg685Trp, NP_001123314.1:p.Arg685Trp, NP_001123313.1:p.Arg685Trp, NP_001123312.1:p.Arg685Trp, NP_001123316.1:p.Arg682Trp, NP_001123318.1:p.Arg685Trp, XP_011519325.1:p.Arg710Trp, XP_016875415.1:p.Arg806Trp, XP_016875416.1:p.Arg806Trp, XP_016875417.1:p.Arg806Trp, XP_016875419.1:p.Arg806Trp, XP_016875418.1:p.Arg806Trp, XP_016875420.1:p.Arg806Trp, XP_016875421.1:p.Arg741Trp, XP_016875422.1:p.Arg741Trp, XP_016875444.1:p.Arg766Trp, XP_016875424.1:p.Arg766Trp, XP_016875423.1:p.Arg766Trp, XP_016875428.1:p.Arg741Trp, XP_016875438.1:p.Arg741Trp, XP_016875437.1:p.Arg741Trp, XP_016875436.1:p.Arg741Trp, XP_016875434.1:p.Arg741Trp, XP_016875433.1:p.Arg741Trp, XP_016875432.1:p.Arg741Trp, XP_011519322.1:p.Arg740Trp, XP_016875443.1:p.Arg715Trp, XP_016875442.1:p.Arg715Trp, XP_016875435.1:p.Arg741Trp, XP_016875439.1:p.Arg741Trp, XP_006719080.1:p.Arg715Trp, XP_047285472.1:p.Arg806Trp, XP_047285471.1:p.Arg806Trp, XP_047285474.1:p.Arg806Trp, XP_047285473.1:p.Arg806Trp, XP_047285475.1:p.Arg766Trp, XP_047285470.1:p.Arg806Trp, XP_047285469.1:p.Arg806Trp, XP_047285476.1:p.Arg417Trp

                  9.

                  rs1484120455 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    12:2493209 (GRCh38)
                    12:2602375 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:2493208:C:A,NC_000012.12:2493208:C:T
                    Gene:
                    CACNA1C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000012.12:g.2493209C>A, NC_000012.12:g.2493209C>T, NC_000012.11:g.2602375C>A, NC_000012.11:g.2602375C>T, NG_008801.2:g.527424C>A, NG_008801.2:g.527424C>T, NM_000719.7:c.936C>A, NM_000719.7:c.936C>T, NM_000719.6:c.936C>A, NM_000719.6:c.936C>T, NM_199460.4:c.936C>A, NM_199460.4:c.936C>T, NM_199460.3:c.936C>A, NM_199460.3:c.936C>T, NM_199460.2:c.936C>A, NM_199460.2:c.936C>T, NM_001167624.3:c.936C>A, NM_001167624.3:c.936C>T, NM_001167624.2:c.936C>A, NM_001167624.2:c.936C>T, NM_001167624.1:c.936C>A, NM_001167624.1:c.936C>T, NM_001129830.3:c.936C>A, NM_001129830.3:c.936C>T, NM_001129830.2:c.936C>A, NM_001129830.2:c.936C>T, NM_001129830.1:c.936C>A, NM_001129830.1:c.936C>T, NM_001167625.2:c.936C>A, NM_001167625.2:c.936C>T, NM_001167625.1:c.936C>A, NM_001167625.1:c.936C>T, NM_001129827.2:c.936C>A, NM_001129827.2:c.936C>T, NM_001129827.1:c.936C>A, NM_001129827.1:c.936C>T, NM_001129829.2:c.936C>A, NM_001129829.2:c.936C>T, NM_001129829.1:c.936C>A, NM_001129829.1:c.936C>T, NM_001129831.2:c.936C>A, NM_001129831.2:c.936C>T, NM_001129831.1:c.936C>A, NM_001129831.1:c.936C>T, NM_001129832.2:c.936C>A, NM_001129832.2:c.936C>T, NM_001129832.1:c.936C>A, NM_001129832.1:c.936C>T, NM_001129835.2:c.936C>A, NM_001129835.2:c.936C>T, NM_001129835.1:c.936C>A, NM_001129835.1:c.936C>T, NM_001129834.2:c.936C>A, NM_001129834.2:c.936C>T, NM_001129834.1:c.936C>A, NM_001129834.1:c.936C>T, NM_001129833.2:c.936C>A, NM_001129833.2:c.936C>T, NM_001129833.1:c.936C>A, NM_001129833.1:c.936C>T, NM_001129836.2:c.936C>A, NM_001129836.2:c.936C>T, NM_001129836.1:c.936C>A, NM_001129836.1:c.936C>T, NM_001129838.2:c.936C>A, NM_001129838.2:c.936C>T, NM_001129838.1:c.936C>A, NM_001129838.1:c.936C>T, NM_001129837.2:c.936C>A, NM_001129837.2:c.936C>T, NM_001129837.1:c.936C>A, NM_001129837.1:c.936C>T, NM_001129839.2:c.936C>A, NM_001129839.2:c.936C>T, NM_001129839.1:c.936C>A, NM_001129839.1:c.936C>T, NM_001167623.2:c.936C>A, NM_001167623.2:c.936C>T, NM_001167623.1:c.936C>A, NM_001167623.1:c.936C>T, NM_001129843.2:c.936C>A, NM_001129843.2:c.936C>T, NM_001129843.1:c.936C>A, NM_001129843.1:c.936C>T, NM_001129842.2:c.936C>A, NM_001129842.2:c.936C>T, NM_001129842.1:c.936C>A, NM_001129842.1:c.936C>T, NM_001129841.2:c.936C>A, NM_001129841.2:c.936C>T, NM_001129841.1:c.936C>A, NM_001129841.1:c.936C>T, NM_001129840.2:c.936C>A, NM_001129840.2:c.936C>T, NM_001129840.1:c.936C>A, NM_001129840.1:c.936C>T, NM_001129844.2:c.927C>A, NM_001129844.2:c.927C>T, NM_001129844.1:c.927C>A, NM_001129844.1:c.927C>T, NM_001129846.2:c.936C>A, NM_001129846.2:c.936C>T, NM_001129846.1:c.936C>A, NM_001129846.1:c.936C>T, NW_018654718.1:g.841325C>A, NW_018654718.1:g.841325C>T, XM_011521023.4:c.936C>A, XM_011521023.4:c.936C>T, XM_011521023.3:c.936C>A, XM_011521023.3:c.936C>T, XM_011521023.2:c.936C>A, XM_011521023.2:c.936C>T, XM_011521023.1:c.936C>A, XM_011521023.1:c.936C>T, XM_017019926.3:c.1104C>A, XM_017019926.3:c.1104C>T, XM_017019926.2:c.1104C>A, XM_017019926.2:c.1104C>T, XM_017019926.1:c.1104C>A, XM_017019926.1:c.1104C>T, XM_017019927.3:c.1104C>A, XM_017019927.3:c.1104C>T, XM_017019927.2:c.1104C>A, XM_017019927.2:c.1104C>T, XM_017019927.1:c.1104C>A, XM_017019927.1:c.1104C>T, XM_017019928.3:c.1104C>A, XM_017019928.3:c.1104C>T, XM_017019928.2:c.1104C>A, XM_017019928.2:c.1104C>T, XM_017019928.1:c.1104C>A, XM_017019928.1:c.1104C>T, XM_017019930.3:c.1104C>A, XM_017019930.3:c.1104C>T, XM_017019930.2:c.1104C>A, XM_017019930.2:c.1104C>T, XM_017019930.1:c.1104C>A, XM_017019930.1:c.1104C>T, XM_017019929.3:c.1104C>A, XM_017019929.3:c.1104C>T, XM_017019929.2:c.1104C>A, XM_017019929.2:c.1104C>T, XM_017019929.1:c.1104C>A, XM_017019929.1:c.1104C>T, XM_017019931.3:c.1104C>A, XM_017019931.3:c.1104C>T, XM_017019931.2:c.1104C>A, XM_017019931.2:c.1104C>T, XM_017019931.1:c.1104C>A, XM_017019931.1:c.1104C>T, XM_017019932.3:c.1104C>A, XM_017019932.3:c.1104C>T, XM_017019932.2:c.1104C>A, XM_017019932.2:c.1104C>T, XM_017019932.1:c.1104C>A, XM_017019932.1:c.1104C>T, XM_017019933.3:c.1104C>A, XM_017019933.3:c.1104C>T, XM_017019933.2:c.1104C>A, XM_017019933.2:c.1104C>T, XM_017019933.1:c.1104C>A, XM_017019933.1:c.1104C>T, XM_017019955.3:c.1104C>A, XM_017019955.3:c.1104C>T, XM_017019955.2:c.1104C>A, XM_017019955.2:c.1104C>T, XM_017019955.1:c.1104C>A, XM_017019955.1:c.1104C>T, XM_017019935.3:c.1104C>A, XM_017019935.3:c.1104C>T, XM_017019935.2:c.1104C>A, XM_017019935.2:c.1104C>T, XM_017019935.1:c.1104C>A, XM_017019935.1:c.1104C>T, XM_017019934.3:c.1104C>A, XM_017019934.3:c.1104C>T, XM_017019934.2:c.1104C>A, XM_017019934.2:c.1104C>T, XM_017019934.1:c.1104C>A, XM_017019934.1:c.1104C>T, XM_017019939.3:c.1104C>A, XM_017019939.3:c.1104C>T, XM_017019939.2:c.1104C>A, XM_017019939.2:c.1104C>T, XM_017019939.1:c.1104C>A, XM_017019939.1:c.1104C>T, XM_017019949.3:c.1104C>A, XM_017019949.3:c.1104C>T, XM_017019949.2:c.1104C>A, XM_017019949.2:c.1104C>T, XM_017019949.1:c.1104C>A, XM_017019949.1:c.1104C>T, XM_017019948.3:c.1104C>A, XM_017019948.3:c.1104C>T, XM_017019948.2:c.1104C>A, XM_017019948.2:c.1104C>T, XM_017019948.1:c.1104C>A, XM_017019948.1:c.1104C>T, XM_017019947.3:c.1104C>A, XM_017019947.3:c.1104C>T, XM_017019947.2:c.1104C>A, XM_017019947.2:c.1104C>T, XM_017019947.1:c.1104C>A, XM_017019947.1:c.1104C>T, XM_017019945.3:c.1104C>A, XM_017019945.3:c.1104C>T, XM_017019945.2:c.1104C>A, XM_017019945.2:c.1104C>T, XM_017019945.1:c.1104C>A, XM_017019945.1:c.1104C>T, XM_017019944.3:c.1104C>A, XM_017019944.3:c.1104C>T, XM_017019944.2:c.1104C>A, XM_017019944.2:c.1104C>T, XM_017019944.1:c.1104C>A, XM_017019944.1:c.1104C>T, XM_017019943.3:c.1104C>A, XM_017019943.3:c.1104C>T, XM_017019943.2:c.1104C>A, XM_017019943.2:c.1104C>T, XM_017019943.1:c.1104C>A, XM_017019943.1:c.1104C>T, XM_011521020.3:c.1026C>A, XM_011521020.3:c.1026C>T, XM_011521020.2:c.1026C>A, XM_011521020.2:c.1026C>T, XM_011521020.1:c.1026C>A, XM_011521020.1:c.1026C>T, XM_017019954.2:c.1026C>A, XM_017019954.2:c.1026C>T, XM_017019954.1:c.1026C>A, XM_017019954.1:c.1026C>T, XM_017019953.2:c.1026C>A, XM_017019953.2:c.1026C>T, XM_017019953.1:c.1026C>A, XM_017019953.1:c.1026C>T, XM_017019946.3:c.1104C>A, XM_017019946.3:c.1104C>T, XM_017019946.2:c.1104C>A, XM_017019946.2:c.1104C>T, XM_017019946.1:c.1104C>A, XM_017019946.1:c.1104C>T, XM_017019950.3:c.1104C>A, XM_017019950.3:c.1104C>T, XM_017019950.2:c.1104C>A, XM_017019950.2:c.1104C>T, XM_017019950.1:c.1104C>A, XM_017019950.1:c.1104C>T, XM_006719017.3:c.1026C>A, XM_006719017.3:c.1026C>T, XM_006719017.2:c.1026C>A, XM_006719017.2:c.1026C>T, XM_006719017.1:c.1026C>A, XM_006719017.1:c.1026C>T, XM_047429516.1:c.1104C>A, XM_047429516.1:c.1104C>T, XM_047429515.1:c.1104C>A, XM_047429515.1:c.1104C>T, XM_047429518.1:c.1104C>A, XM_047429518.1:c.1104C>T, XM_047429517.1:c.1104C>A, XM_047429517.1:c.1104C>T, XM_047429519.1:c.1104C>A, XM_047429519.1:c.1104C>T, XM_047429514.1:c.1104C>A, XM_047429514.1:c.1104C>T, XM_047429513.1:c.1104C>A, XM_047429513.1:c.1104C>T, XM_047429520.1:c.132C>A, XM_047429520.1:c.132C>T, NP_000710.5:p.Asp312Glu, NP_955630.3:p.Asp312Glu, NP_001161096.2:p.Asp312Glu, NP_001123302.2:p.Asp312Glu, NP_001161097.1:p.Asp312Glu, NP_001123299.1:p.Asp312Glu, NP_001123301.1:p.Asp312Glu, NP_001123303.1:p.Asp312Glu, NP_001123304.1:p.Asp312Glu, NP_001123307.1:p.Asp312Glu, NP_001123306.1:p.Asp312Glu, NP_001123305.1:p.Asp312Glu, NP_001123308.1:p.Asp312Glu, NP_001123310.1:p.Asp312Glu, NP_001123309.1:p.Asp312Glu, NP_001123311.1:p.Asp312Glu, NP_001161095.1:p.Asp312Glu, NP_001123315.1:p.Asp312Glu, NP_001123314.1:p.Asp312Glu, NP_001123313.1:p.Asp312Glu, NP_001123312.1:p.Asp312Glu, NP_001123316.1:p.Asp309Glu, NP_001123318.1:p.Asp312Glu, XP_011519325.1:p.Asp312Glu, XP_016875415.1:p.Asp368Glu, XP_016875416.1:p.Asp368Glu, XP_016875417.1:p.Asp368Glu, XP_016875419.1:p.Asp368Glu, XP_016875418.1:p.Asp368Glu, XP_016875420.1:p.Asp368Glu, XP_016875421.1:p.Asp368Glu, XP_016875422.1:p.Asp368Glu, XP_016875444.1:p.Asp368Glu, XP_016875424.1:p.Asp368Glu, XP_016875423.1:p.Asp368Glu, XP_016875428.1:p.Asp368Glu, XP_016875438.1:p.Asp368Glu, XP_016875437.1:p.Asp368Glu, XP_016875436.1:p.Asp368Glu, XP_016875434.1:p.Asp368Glu, XP_016875433.1:p.Asp368Glu, XP_016875432.1:p.Asp368Glu, XP_011519322.1:p.Asp342Glu, XP_016875443.1:p.Asp342Glu, XP_016875442.1:p.Asp342Glu, XP_016875435.1:p.Asp368Glu, XP_016875439.1:p.Asp368Glu, XP_006719080.1:p.Asp342Glu, XP_047285472.1:p.Asp368Glu, XP_047285471.1:p.Asp368Glu, XP_047285474.1:p.Asp368Glu, XP_047285473.1:p.Asp368Glu, XP_047285475.1:p.Asp368Glu, XP_047285470.1:p.Asp368Glu, XP_047285469.1:p.Asp368Glu, XP_047285476.1:p.Asp44Glu

                    10.

                    rs1483607521 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C,T [Show Flanks]
                      Chromosome:
                      12:2664905 (GRCh38)
                      12:2774071 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:2664904:G:C,NC_000012.12:2664904:G:T
                      Gene:
                      CACNA1C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000012.12:g.2664905G>C, NC_000012.12:g.2664905G>T, NC_000012.11:g.2774071G>C, NC_000012.11:g.2774071G>T, NG_008801.2:g.699120G>C, NG_008801.2:g.699120G>T, NM_000719.7:c.4313G>C, NM_000719.7:c.4313G>T, NM_000719.6:c.4313G>C, NM_000719.6:c.4313G>T, NM_199460.4:c.4457G>C, NM_199460.4:c.4457G>T, NM_199460.3:c.4457G>C, NM_199460.3:c.4457G>T, NM_199460.2:c.4457G>C, NM_199460.2:c.4457G>T, NM_001167624.3:c.4313G>C, NM_001167624.3:c.4313G>T, NM_001167624.2:c.4313G>C, NM_001167624.2:c.4313G>T, NM_001167624.1:c.4313G>C, NM_001167624.1:c.4313G>T, NM_001129830.3:c.4313G>C, NM_001129830.3:c.4313G>T, NM_001129830.2:c.4313G>C, NM_001129830.2:c.4313G>T, NM_001129830.1:c.4313G>C, NM_001129830.1:c.4313G>T, NM_001167625.2:c.4280G>C, NM_001167625.2:c.4280G>T, NM_001167625.1:c.4280G>C, NM_001167625.1:c.4280G>T, NM_001129827.2:c.4457G>C, NM_001129827.2:c.4457G>T, NM_001129827.1:c.4457G>C, NM_001129827.1:c.4457G>T, NM_001129829.2:c.4379G>C, NM_001129829.2:c.4379G>T, NM_001129829.1:c.4379G>C, NM_001129829.1:c.4379G>T, NM_001129831.2:c.4397G>C, NM_001129831.2:c.4397G>T, NM_001129831.1:c.4397G>C, NM_001129831.1:c.4397G>T, NM_001129832.2:c.4373G>C, NM_001129832.2:c.4373G>T, NM_001129832.1:c.4373G>C, NM_001129832.1:c.4373G>T, NM_001129835.2:c.4313G>C, NM_001129835.2:c.4313G>T, NM_001129835.1:c.4313G>C, NM_001129835.1:c.4313G>T, NM_001129834.2:c.4313G>C, NM_001129834.2:c.4313G>T, NM_001129834.1:c.4313G>C, NM_001129834.1:c.4313G>T, NM_001129833.2:c.4313G>C, NM_001129833.2:c.4313G>T, NM_001129833.1:c.4313G>C, NM_001129833.1:c.4313G>T, NM_001129836.2:c.4364G>C, NM_001129836.2:c.4364G>T, NM_001129836.1:c.4364G>C, NM_001129836.1:c.4364G>T, NM_001129838.2:c.4280G>C, NM_001129838.2:c.4280G>T, NM_001129838.1:c.4280G>C, NM_001129838.1:c.4280G>T, NM_001129837.2:c.4280G>C, NM_001129837.2:c.4280G>T, NM_001129837.1:c.4280G>C, NM_001129837.1:c.4280G>T, NM_001129839.2:c.4274G>C, NM_001129839.2:c.4274G>T, NM_001129839.1:c.4274G>C, NM_001129839.1:c.4274G>T, NM_001167623.2:c.4313G>C, NM_001167623.2:c.4313G>T, NM_001167623.1:c.4313G>C, NM_001167623.1:c.4313G>T, NM_001129843.2:c.4313G>C, NM_001129843.2:c.4313G>T, NM_001129843.1:c.4313G>C, NM_001129843.1:c.4313G>T, NM_001129842.2:c.4313G>C, NM_001129842.2:c.4313G>T, NM_001129842.1:c.4313G>C, NM_001129842.1:c.4313G>T, NM_001129841.2:c.4313G>C, NM_001129841.2:c.4313G>T, NM_001129841.1:c.4313G>C, NM_001129841.1:c.4313G>T, NM_001129840.2:c.4313G>C, NM_001129840.2:c.4313G>T, NM_001129840.1:c.4313G>C, NM_001129840.1:c.4313G>T, NM_001129844.2:c.4304G>C, NM_001129844.2:c.4304G>T, NM_001129844.1:c.4304G>C, NM_001129844.1:c.4304G>T, NM_001129846.2:c.4280G>C, NM_001129846.2:c.4280G>T, NM_001129846.1:c.4280G>C, NM_001129846.1:c.4280G>T, NW_018654718.1:g.1013021G>C, NW_018654718.1:g.1013021G>T, XM_011521023.4:c.4388G>C, XM_011521023.4:c.4388G>T, XM_011521023.3:c.4388G>C, XM_011521023.3:c.4388G>T, XM_011521023.2:c.4388G>C, XM_011521023.2:c.4388G>T, XM_011521023.1:c.4388G>C, XM_011521023.1:c.4388G>T, XM_017019926.3:c.4760G>C, XM_017019926.3:c.4760G>T, XM_017019926.2:c.4760G>C, XM_017019926.2:c.4760G>T, XM_017019926.1:c.4760G>C, XM_017019926.1:c.4760G>T, XM_017019927.3:c.4760G>C, XM_017019927.3:c.4760G>T, XM_017019927.2:c.4760G>C, XM_017019927.2:c.4760G>T, XM_017019927.1:c.4760G>C, XM_017019927.1:c.4760G>T, XM_017019928.3:c.4760G>C, XM_017019928.3:c.4760G>T, XM_017019928.2:c.4760G>C, XM_017019928.2:c.4760G>T, XM_017019928.1:c.4760G>C, XM_017019928.1:c.4760G>T, XM_017019930.3:c.4760G>C, XM_017019930.3:c.4760G>T, XM_017019930.2:c.4760G>C, XM_017019930.2:c.4760G>T, XM_017019930.1:c.4760G>C, XM_017019930.1:c.4760G>T, XM_017019929.3:c.4760G>C, XM_017019929.3:c.4760G>T, XM_017019929.2:c.4760G>C, XM_017019929.2:c.4760G>T, XM_017019929.1:c.4760G>C, XM_017019929.1:c.4760G>T, XM_017019931.3:c.4676G>C, XM_017019931.3:c.4676G>T, XM_017019931.2:c.4676G>C, XM_017019931.2:c.4676G>T, XM_017019931.1:c.4676G>C, XM_017019931.1:c.4676G>T, XM_017019932.3:c.4448G>C, XM_017019932.3:c.4448G>T, XM_017019932.2:c.4448G>C, XM_017019932.2:c.4448G>T, XM_017019932.1:c.4448G>C, XM_017019932.1:c.4448G>T, XM_017019933.3:c.4565G>C, XM_017019933.3:c.4565G>T, XM_017019933.2:c.4565G>C, XM_017019933.2:c.4565G>T, XM_017019933.1:c.4565G>C, XM_017019933.1:c.4565G>T, XM_017019955.3:c.4556G>C, XM_017019955.3:c.4556G>T, XM_017019955.2:c.4556G>C, XM_017019955.2:c.4556G>T, XM_017019955.1:c.4556G>C, XM_017019955.1:c.4556G>T, XM_017019935.3:c.4556G>C, XM_017019935.3:c.4556G>T, XM_017019935.2:c.4556G>C, XM_017019935.2:c.4556G>T, XM_017019935.1:c.4556G>C, XM_017019935.1:c.4556G>T, XM_017019934.3:c.4556G>C, XM_017019934.3:c.4556G>T, XM_017019934.2:c.4556G>C, XM_017019934.2:c.4556G>T, XM_017019934.1:c.4556G>C, XM_017019934.1:c.4556G>T, XM_017019939.3:c.4532G>C, XM_017019939.3:c.4532G>T, XM_017019939.2:c.4532G>C, XM_017019939.2:c.4532G>T, XM_017019939.1:c.4532G>C, XM_017019939.1:c.4532G>T, XM_017019949.3:c.4481G>C, XM_017019949.3:c.4481G>T, XM_017019949.2:c.4481G>C, XM_017019949.2:c.4481G>T, XM_017019949.1:c.4481G>C, XM_017019949.1:c.4481G>T, XM_017019948.3:c.4481G>C, XM_017019948.3:c.4481G>T, XM_017019948.2:c.4481G>C, XM_017019948.2:c.4481G>T, XM_017019948.1:c.4481G>C, XM_017019948.1:c.4481G>T, XM_017019947.3:c.4481G>C, XM_017019947.3:c.4481G>T, XM_017019947.2:c.4481G>C, XM_017019947.2:c.4481G>T, XM_017019947.1:c.4481G>C, XM_017019947.1:c.4481G>T, XM_017019945.3:c.4481G>C, XM_017019945.3:c.4481G>T, XM_017019945.2:c.4481G>C, XM_017019945.2:c.4481G>T, XM_017019945.1:c.4481G>C, XM_017019945.1:c.4481G>T, XM_017019944.3:c.4481G>C, XM_017019944.3:c.4481G>T, XM_017019944.2:c.4481G>C, XM_017019944.2:c.4481G>T, XM_017019944.1:c.4481G>C, XM_017019944.1:c.4481G>T, XM_017019943.3:c.4481G>C, XM_017019943.3:c.4481G>T, XM_017019943.2:c.4481G>C, XM_017019943.2:c.4481G>T, XM_017019943.1:c.4481G>C, XM_017019943.1:c.4481G>T, XM_011521020.3:c.4478G>C, XM_011521020.3:c.4478G>T, XM_011521020.2:c.4478G>C, XM_011521020.2:c.4478G>T, XM_011521020.1:c.4478G>C, XM_011521020.1:c.4478G>T, XM_017019954.2:c.4403G>C, XM_017019954.2:c.4403G>T, XM_017019954.1:c.4403G>C, XM_017019954.1:c.4403G>T, XM_017019953.2:c.4403G>C, XM_017019953.2:c.4403G>T, XM_017019953.1:c.4403G>C, XM_017019953.1:c.4403G>T, XM_017019946.3:c.4481G>C, XM_017019946.3:c.4481G>T, XM_017019946.2:c.4481G>C, XM_017019946.2:c.4481G>T, XM_017019946.1:c.4481G>C, XM_017019946.1:c.4481G>T, XM_017019950.3:c.4475G>C, XM_017019950.3:c.4475G>T, XM_017019950.2:c.4475G>C, XM_017019950.2:c.4475G>T, XM_017019950.1:c.4475G>C, XM_017019950.1:c.4475G>T, XM_006719017.3:c.4403G>C, XM_006719017.3:c.4403G>T, XM_006719017.2:c.4403G>C, XM_006719017.2:c.4403G>T, XM_006719017.1:c.4403G>C, XM_006719017.1:c.4403G>T, XM_047429516.1:c.4676G>C, XM_047429516.1:c.4676G>T, XM_047429515.1:c.4676G>C, XM_047429515.1:c.4676G>T, XM_047429518.1:c.4643G>C, XM_047429518.1:c.4643G>T, XM_047429517.1:c.4643G>C, XM_047429517.1:c.4643G>T, XM_047429519.1:c.4556G>C, XM_047429519.1:c.4556G>T, XM_047429514.1:c.4754G>C, XM_047429514.1:c.4754G>T, XM_047429513.1:c.4760G>C, XM_047429513.1:c.4760G>T, XM_047429520.1:c.3476G>C, XM_047429520.1:c.3476G>T, NP_000710.5:p.Ser1438Thr, NP_000710.5:p.Ser1438Ile, NP_955630.3:p.Ser1486Thr, NP_955630.3:p.Ser1486Ile, NP_001161096.2:p.Ser1438Thr, NP_001161096.2:p.Ser1438Ile, NP_001123302.2:p.Ser1438Thr, NP_001123302.2:p.Ser1438Ile, NP_001161097.1:p.Ser1427Thr, NP_001161097.1:p.Ser1427Ile, NP_001123299.1:p.Ser1486Thr, NP_001123299.1:p.Ser1486Ile, NP_001123301.1:p.Ser1460Thr, NP_001123301.1:p.Ser1460Ile, NP_001123303.1:p.Ser1466Thr, NP_001123303.1:p.Ser1466Ile, NP_001123304.1:p.Ser1458Thr, NP_001123304.1:p.Ser1458Ile, NP_001123307.1:p.Ser1438Thr, NP_001123307.1:p.Ser1438Ile, NP_001123306.1:p.Ser1438Thr, NP_001123306.1:p.Ser1438Ile, NP_001123305.1:p.Ser1438Thr, NP_001123305.1:p.Ser1438Ile, NP_001123308.1:p.Ser1455Thr, NP_001123308.1:p.Ser1455Ile, NP_001123310.1:p.Ser1427Thr, NP_001123310.1:p.Ser1427Ile, NP_001123309.1:p.Ser1427Thr, NP_001123309.1:p.Ser1427Ile, NP_001123311.1:p.Ser1425Thr, NP_001123311.1:p.Ser1425Ile, NP_001161095.1:p.Ser1438Thr, NP_001161095.1:p.Ser1438Ile, NP_001123315.1:p.Ser1438Thr, NP_001123315.1:p.Ser1438Ile, NP_001123314.1:p.Ser1438Thr, NP_001123314.1:p.Ser1438Ile, NP_001123313.1:p.Ser1438Thr, NP_001123313.1:p.Ser1438Ile, NP_001123312.1:p.Ser1438Thr, NP_001123312.1:p.Ser1438Ile, NP_001123316.1:p.Ser1435Thr, NP_001123316.1:p.Ser1435Ile, NP_001123318.1:p.Ser1427Thr, NP_001123318.1:p.Ser1427Ile, XP_011519325.1:p.Ser1463Thr, XP_011519325.1:p.Ser1463Ile, XP_016875415.1:p.Ser1587Thr, XP_016875415.1:p.Ser1587Ile, XP_016875416.1:p.Ser1587Thr, XP_016875416.1:p.Ser1587Ile, XP_016875417.1:p.Ser1587Thr, XP_016875417.1:p.Ser1587Ile, XP_016875419.1:p.Ser1587Thr, XP_016875419.1:p.Ser1587Ile, XP_016875418.1:p.Ser1587Thr, XP_016875418.1:p.Ser1587Ile, XP_016875420.1:p.Ser1559Thr, XP_016875420.1:p.Ser1559Ile, XP_016875421.1:p.Ser1483Thr, XP_016875421.1:p.Ser1483Ile, XP_016875422.1:p.Ser1522Thr, XP_016875422.1:p.Ser1522Ile, XP_016875444.1:p.Ser1519Thr, XP_016875444.1:p.Ser1519Ile, XP_016875424.1:p.Ser1519Thr, XP_016875424.1:p.Ser1519Ile, XP_016875423.1:p.Ser1519Thr, XP_016875423.1:p.Ser1519Ile, XP_016875428.1:p.Ser1511Thr, XP_016875428.1:p.Ser1511Ile, XP_016875438.1:p.Ser1494Thr, XP_016875438.1:p.Ser1494Ile, XP_016875437.1:p.Ser1494Thr, XP_016875437.1:p.Ser1494Ile, XP_016875436.1:p.Ser1494Thr, XP_016875436.1:p.Ser1494Ile, XP_016875434.1:p.Ser1494Thr, XP_016875434.1:p.Ser1494Ile, XP_016875433.1:p.Ser1494Thr, XP_016875433.1:p.Ser1494Ile, XP_016875432.1:p.Ser1494Thr, XP_016875432.1:p.Ser1494Ile, XP_011519322.1:p.Ser1493Thr, XP_011519322.1:p.Ser1493Ile, XP_016875443.1:p.Ser1468Thr, XP_016875443.1:p.Ser1468Ile, XP_016875442.1:p.Ser1468Thr, XP_016875442.1:p.Ser1468Ile, XP_016875435.1:p.Ser1494Thr, XP_016875435.1:p.Ser1494Ile, XP_016875439.1:p.Ser1492Thr, XP_016875439.1:p.Ser1492Ile, XP_006719080.1:p.Ser1468Thr, XP_006719080.1:p.Ser1468Ile, XP_047285472.1:p.Ser1559Thr, XP_047285472.1:p.Ser1559Ile, XP_047285471.1:p.Ser1559Thr, XP_047285471.1:p.Ser1559Ile, XP_047285474.1:p.Ser1548Thr, XP_047285474.1:p.Ser1548Ile, XP_047285473.1:p.Ser1548Thr, XP_047285473.1:p.Ser1548Ile, XP_047285475.1:p.Ser1519Thr, XP_047285475.1:p.Ser1519Ile, XP_047285470.1:p.Ser1585Thr, XP_047285470.1:p.Ser1585Ile, XP_047285469.1:p.Ser1587Thr, XP_047285469.1:p.Ser1587Ile, XP_047285476.1:p.Ser1159Thr, XP_047285476.1:p.Ser1159Ile

                      11.

                      rs1481799440 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:2115520 (GRCh38)
                        12:2224686 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:2115519:G:A
                        Gene:
                        CACNA1C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                        HGVS:
                        NC_000012.12:g.2115520G>A, NC_000012.11:g.2224686G>A, NG_008801.2:g.149735G>A, NM_000719.7:c.346G>A, NM_000719.6:c.346G>A, NM_199460.4:c.346G>A, NM_199460.3:c.346G>A, NM_199460.2:c.346G>A, NM_001167624.3:c.346G>A, NM_001167624.2:c.346G>A, NM_001167624.1:c.346G>A, NM_001129830.3:c.346G>A, NM_001129830.2:c.346G>A, NM_001129830.1:c.346G>A, NM_001167625.2:c.346G>A, NM_001167625.1:c.346G>A, NM_001129827.2:c.346G>A, NM_001129827.1:c.346G>A, NM_001129829.2:c.346G>A, NM_001129829.1:c.346G>A, NM_001129831.2:c.346G>A, NM_001129831.1:c.346G>A, NM_001129832.2:c.346G>A, NM_001129832.1:c.346G>A, NM_001129835.2:c.346G>A, NM_001129835.1:c.346G>A, NM_001129834.2:c.346G>A, NM_001129834.1:c.346G>A, NM_001129833.2:c.346G>A, NM_001129833.1:c.346G>A, NM_001129836.2:c.346G>A, NM_001129836.1:c.346G>A, NM_001129838.2:c.346G>A, NM_001129838.1:c.346G>A, NM_001129837.2:c.346G>A, NM_001129837.1:c.346G>A, NM_001129839.2:c.346G>A, NM_001129839.1:c.346G>A, NM_001167623.2:c.346G>A, NM_001167623.1:c.346G>A, NM_001129843.2:c.346G>A, NM_001129843.1:c.346G>A, NM_001129842.2:c.346G>A, NM_001129842.1:c.346G>A, NM_001129841.2:c.346G>A, NM_001129841.1:c.346G>A, NM_001129840.2:c.346G>A, NM_001129840.1:c.346G>A, NM_001129844.2:c.346G>A, NM_001129844.1:c.346G>A, NM_001129846.2:c.346G>A, NM_001129846.1:c.346G>A, NW_018654718.1:g.457664G>A, XM_011521023.4:c.346G>A, XM_011521023.3:c.346G>A, XM_011521023.2:c.346G>A, XM_011521023.1:c.346G>A, XM_017019926.3:c.514G>A, XM_017019926.2:c.514G>A, XM_017019926.1:c.514G>A, XM_017019927.3:c.514G>A, XM_017019927.2:c.514G>A, XM_017019927.1:c.514G>A, XM_017019928.3:c.514G>A, XM_017019928.2:c.514G>A, XM_017019928.1:c.514G>A, XM_017019930.3:c.514G>A, XM_017019930.2:c.514G>A, XM_017019930.1:c.514G>A, XM_017019929.3:c.514G>A, XM_017019929.2:c.514G>A, XM_017019929.1:c.514G>A, XM_017019931.3:c.514G>A, XM_017019931.2:c.514G>A, XM_017019931.1:c.514G>A, XM_017019932.3:c.514G>A, XM_017019932.2:c.514G>A, XM_017019932.1:c.514G>A, XM_017019933.3:c.514G>A, XM_017019933.2:c.514G>A, XM_017019933.1:c.514G>A, XM_017019955.3:c.514G>A, XM_017019955.2:c.514G>A, XM_017019955.1:c.514G>A, XM_017019935.3:c.514G>A, XM_017019935.2:c.514G>A, XM_017019935.1:c.514G>A, XM_017019934.3:c.514G>A, XM_017019934.2:c.514G>A, XM_017019934.1:c.514G>A, XM_017019939.3:c.514G>A, XM_017019939.2:c.514G>A, XM_017019939.1:c.514G>A, XM_017019949.3:c.514G>A, XM_017019949.2:c.514G>A, XM_017019949.1:c.514G>A, XM_017019947.3:c.514G>A, XM_017019947.2:c.514G>A, XM_017019947.1:c.514G>A, XM_017019946.3:c.514G>A, XM_017019946.2:c.514G>A, XM_017019946.1:c.514G>A, XM_017019945.3:c.514G>A, XM_017019945.2:c.514G>A, XM_017019945.1:c.514G>A, XM_017019944.3:c.514G>A, XM_017019944.2:c.514G>A, XM_017019944.1:c.514G>A, XM_017019943.3:c.514G>A, XM_017019943.2:c.514G>A, XM_017019943.1:c.514G>A, XM_011521020.3:c.436G>A, XM_011521020.2:c.436G>A, XM_011521020.1:c.436G>A, XM_017019950.3:c.514G>A, XM_017019950.2:c.514G>A, XM_017019950.1:c.514G>A, XM_006719017.3:c.436G>A, XM_006719017.2:c.436G>A, XM_006719017.1:c.436G>A, XM_017019954.2:c.436G>A, XM_017019954.1:c.436G>A, XM_017019953.2:c.436G>A, XM_017019953.1:c.436G>A, XM_047429517.1:c.514G>A, XM_047429519.1:c.514G>A, XM_017019948.3:c.514G>A, XM_017019948.2:c.514G>A, XM_017019948.1:c.514G>A, XM_047429515.1:c.514G>A, XM_047429513.1:c.514G>A, XM_047429514.1:c.514G>A, XM_047429516.1:c.514G>A, XM_047429518.1:c.514G>A, NP_000710.5:p.Ala116Thr, NP_955630.3:p.Ala116Thr, NP_001161096.2:p.Ala116Thr, NP_001123302.2:p.Ala116Thr, NP_001161097.1:p.Ala116Thr, NP_001123299.1:p.Ala116Thr, NP_001123301.1:p.Ala116Thr, NP_001123303.1:p.Ala116Thr, NP_001123304.1:p.Ala116Thr, NP_001123307.1:p.Ala116Thr, NP_001123306.1:p.Ala116Thr, NP_001123305.1:p.Ala116Thr, NP_001123308.1:p.Ala116Thr, NP_001123310.1:p.Ala116Thr, NP_001123309.1:p.Ala116Thr, NP_001123311.1:p.Ala116Thr, NP_001161095.1:p.Ala116Thr, NP_001123315.1:p.Ala116Thr, NP_001123314.1:p.Ala116Thr, NP_001123313.1:p.Ala116Thr, NP_001123312.1:p.Ala116Thr, NP_001123316.1:p.Ala116Thr, NP_001123318.1:p.Ala116Thr, XP_011519325.1:p.Ala116Thr, XP_016875415.1:p.Ala172Thr, XP_016875416.1:p.Ala172Thr, XP_016875417.1:p.Ala172Thr, XP_016875419.1:p.Ala172Thr, XP_016875418.1:p.Ala172Thr, XP_016875420.1:p.Ala172Thr, XP_016875421.1:p.Ala172Thr, XP_016875422.1:p.Ala172Thr, XP_016875444.1:p.Ala172Thr, XP_016875424.1:p.Ala172Thr, XP_016875423.1:p.Ala172Thr, XP_016875428.1:p.Ala172Thr, XP_016875438.1:p.Ala172Thr, XP_016875436.1:p.Ala172Thr, XP_016875435.1:p.Ala172Thr, XP_016875434.1:p.Ala172Thr, XP_016875433.1:p.Ala172Thr, XP_016875432.1:p.Ala172Thr, XP_011519322.1:p.Ala146Thr, XP_016875439.1:p.Ala172Thr, XP_006719080.1:p.Ala146Thr, XP_016875443.1:p.Ala146Thr, XP_016875442.1:p.Ala146Thr, XP_047285473.1:p.Ala172Thr, XP_047285475.1:p.Ala172Thr, XP_016875437.1:p.Ala172Thr, XP_047285471.1:p.Ala172Thr, XP_047285469.1:p.Ala172Thr, XP_047285470.1:p.Ala172Thr, XP_047285472.1:p.Ala172Thr, XP_047285474.1:p.Ala172Thr

                        12.

                        rs1481701789 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:2690919 (GRCh38)
                          12:2800085 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:2690918:T:C
                          Gene:
                          CACNA1C (Varview), CACNA1C-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000012.12:g.2690919T>C, NC_000012.11:g.2800085T>C, NG_008801.2:g.725134T>C, NM_000719.7:c.6137T>C, NM_000719.6:c.6137T>C, NM_199460.4:c.6386T>C, NM_199460.3:c.6386T>C, NM_199460.2:c.6386T>C, NM_001167624.3:c.6242T>C, NM_001167624.2:c.6242T>C, NM_001167624.1:c.6242T>C, NM_001129830.3:c.6242T>C, NM_001129830.2:c.6242T>C, NM_001129830.1:c.6242T>C, NM_001167625.2:c.6317T>C, NM_001167625.1:c.6317T>C, NM_001129827.2:c.6281T>C, NM_001129827.1:c.6281T>C, NM_001129829.2:c.6260T>C, NM_001129829.1:c.6260T>C, NM_001129831.2:c.6221T>C, NM_001129831.1:c.6221T>C, NM_001129832.2:c.6197T>C, NM_001129832.1:c.6197T>C, NM_001129835.2:c.6194T>C, NM_001129835.1:c.6194T>C, NM_001129834.2:c.6194T>C, NM_001129834.1:c.6194T>C, NM_001129833.2:c.6194T>C, NM_001129833.1:c.6194T>C, NM_001129836.2:c.6188T>C, NM_001129836.1:c.6188T>C, NM_001129838.2:c.6161T>C, NM_001129838.1:c.6161T>C, NM_001129837.2:c.6161T>C, NM_001129837.1:c.6161T>C, NM_001129839.2:c.6155T>C, NM_001129839.1:c.6155T>C, NM_001167623.2:c.6137T>C, NM_001167623.1:c.6137T>C, NM_001129843.2:c.6137T>C, NM_001129843.1:c.6137T>C, NM_001129842.2:c.6137T>C, NM_001129842.1:c.6137T>C, NM_001129841.2:c.6137T>C, NM_001129841.1:c.6137T>C, NM_001129840.2:c.6137T>C, NM_001129840.1:c.6137T>C, NM_001129844.2:c.6128T>C, NM_001129844.1:c.6128T>C, NM_001129846.2:c.6104T>C, NM_001129846.1:c.6104T>C, NW_018654718.1:g.1039035T>C, XM_011521023.4:c.6212T>C, XM_011521023.3:c.6212T>C, XM_011521023.2:c.6212T>C, XM_011521023.1:c.6212T>C, XM_017019926.3:c.6959T>C, XM_017019926.2:c.6959T>C, XM_017019926.1:c.6959T>C, XM_017019927.3:c.6854T>C, XM_017019927.2:c.6854T>C, XM_017019927.1:c.6854T>C, XM_017019928.3:c.6641T>C, XM_017019928.2:c.6641T>C, XM_017019928.1:c.6641T>C, XM_017019930.3:c.6584T>C, XM_017019930.2:c.6584T>C, XM_017019930.1:c.6584T>C, XM_017019929.3:c.6584T>C, XM_017019929.2:c.6584T>C, XM_017019929.1:c.6584T>C, XM_017019931.3:c.6500T>C, XM_017019931.2:c.6500T>C, XM_017019931.1:c.6500T>C, XM_017019932.3:c.6485T>C, XM_017019932.2:c.6485T>C, XM_017019932.1:c.6485T>C, XM_017019933.3:c.6389T>C, XM_017019933.2:c.6389T>C, XM_017019933.1:c.6389T>C, XM_017019955.3:c.6380T>C, XM_017019955.2:c.6380T>C, XM_017019955.1:c.6380T>C, XM_017019935.3:c.6380T>C, XM_017019935.2:c.6380T>C, XM_017019935.1:c.6380T>C, XM_017019934.3:c.6380T>C, XM_017019934.2:c.6380T>C, XM_017019934.1:c.6380T>C, XM_017019939.3:c.6356T>C, XM_017019939.2:c.6356T>C, XM_017019939.1:c.6356T>C, XM_017019949.3:c.6305T>C, XM_017019949.2:c.6305T>C, XM_017019949.1:c.6305T>C, XM_017019948.3:c.6305T>C, XM_017019948.2:c.6305T>C, XM_017019948.1:c.6305T>C, XM_017019947.3:c.6305T>C, XM_017019947.2:c.6305T>C, XM_017019947.1:c.6305T>C, XM_017019946.3:c.6305T>C, XM_017019946.2:c.6305T>C, XM_017019946.1:c.6305T>C, XM_017019954.2:c.6227T>C, XM_017019954.1:c.6227T>C, XM_017019953.2:c.6227T>C, XM_017019953.1:c.6227T>C, XM_017019945.3:c.6305T>C, XM_017019945.2:c.6305T>C, XM_017019945.1:c.6305T>C, XM_017019944.3:c.6305T>C, XM_017019944.2:c.6305T>C, XM_017019944.1:c.6305T>C, XM_017019943.3:c.6305T>C, XM_017019943.2:c.6305T>C, XM_017019943.1:c.6305T>C, XM_011521020.3:c.6302T>C, XM_011521020.2:c.6302T>C, XM_011521020.1:c.6302T>C, XM_017019950.3:c.6299T>C, XM_017019950.2:c.6299T>C, XM_017019950.1:c.6299T>C, XM_006719017.3:c.6227T>C, XM_006719017.2:c.6227T>C, XM_006719017.1:c.6227T>C, NR_045725.1:n.150A>G, XM_047429515.1:c.6500T>C, XM_047429518.1:c.6467T>C, XM_047429517.1:c.6467T>C, XM_047429519.1:c.6380T>C, XM_047429520.1:c.5300T>C, XM_047429513.1:c.6797T>C, XM_047429514.1:c.6578T>C, XM_047429516.1:c.6500T>C, NP_000710.5:p.Leu2046Pro, NP_955630.3:p.Leu2129Pro, NP_001161096.2:p.Leu2081Pro, NP_001123302.2:p.Leu2081Pro, NP_001161097.1:p.Leu2106Pro, NP_001123299.1:p.Leu2094Pro, NP_001123301.1:p.Leu2087Pro, NP_001123303.1:p.Leu2074Pro, NP_001123304.1:p.Leu2066Pro, NP_001123307.1:p.Leu2065Pro, NP_001123306.1:p.Leu2065Pro, NP_001123305.1:p.Leu2065Pro, NP_001123308.1:p.Leu2063Pro, NP_001123310.1:p.Leu2054Pro, NP_001123309.1:p.Leu2054Pro, NP_001123311.1:p.Leu2052Pro, NP_001161095.1:p.Leu2046Pro, NP_001123315.1:p.Leu2046Pro, NP_001123314.1:p.Leu2046Pro, NP_001123313.1:p.Leu2046Pro, NP_001123312.1:p.Leu2046Pro, NP_001123316.1:p.Leu2043Pro, NP_001123318.1:p.Leu2035Pro, XP_011519325.1:p.Leu2071Pro, XP_016875415.1:p.Leu2320Pro, XP_016875416.1:p.Leu2285Pro, XP_016875417.1:p.Leu2214Pro, XP_016875419.1:p.Leu2195Pro, XP_016875418.1:p.Leu2195Pro, XP_016875420.1:p.Leu2167Pro, XP_016875421.1:p.Leu2162Pro, XP_016875422.1:p.Leu2130Pro, XP_016875444.1:p.Leu2127Pro, XP_016875424.1:p.Leu2127Pro, XP_016875423.1:p.Leu2127Pro, XP_016875428.1:p.Leu2119Pro, XP_016875438.1:p.Leu2102Pro, XP_016875437.1:p.Leu2102Pro, XP_016875436.1:p.Leu2102Pro, XP_016875435.1:p.Leu2102Pro, XP_016875443.1:p.Leu2076Pro, XP_016875442.1:p.Leu2076Pro, XP_016875434.1:p.Leu2102Pro, XP_016875433.1:p.Leu2102Pro, XP_016875432.1:p.Leu2102Pro, XP_011519322.1:p.Leu2101Pro, XP_016875439.1:p.Leu2100Pro, XP_006719080.1:p.Leu2076Pro, XP_047285471.1:p.Leu2167Pro, XP_047285474.1:p.Leu2156Pro, XP_047285473.1:p.Leu2156Pro, XP_047285475.1:p.Leu2127Pro, XP_047285476.1:p.Leu1767Pro, XP_047285469.1:p.Leu2266Pro, XP_047285470.1:p.Leu2193Pro, XP_047285472.1:p.Leu2167Pro

                          13.

                          rs1481230748 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:2685752 (GRCh38)
                            12:2794918 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:2685751:G:A
                            Gene:
                            CACNA1C (Varview), CACNA1C-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000012.12:g.2685752G>A, NC_000012.11:g.2794918G>A, NG_008801.2:g.719967G>A, NM_000719.7:c.5590G>A, NM_000719.6:c.5590G>A, NM_199460.4:c.5839G>A, NM_199460.3:c.5839G>A, NM_199460.2:c.5839G>A, NM_001167624.3:c.5695G>A, NM_001167624.2:c.5695G>A, NM_001167624.1:c.5695G>A, NM_001129830.3:c.5695G>A, NM_001129830.2:c.5695G>A, NM_001129830.1:c.5695G>A, NM_001167625.2:c.5770G>A, NM_001167625.1:c.5770G>A, NM_001129827.2:c.5734G>A, NM_001129827.1:c.5734G>A, NM_001129829.2:c.5713G>A, NM_001129829.1:c.5713G>A, NM_001129831.2:c.5674G>A, NM_001129831.1:c.5674G>A, NM_001129832.2:c.5650G>A, NM_001129832.1:c.5650G>A, NM_001129835.2:c.5647G>A, NM_001129835.1:c.5647G>A, NM_001129834.2:c.5647G>A, NM_001129834.1:c.5647G>A, NM_001129833.2:c.5647G>A, NM_001129833.1:c.5647G>A, NM_001129836.2:c.5641G>A, NM_001129836.1:c.5641G>A, NM_001129838.2:c.5614G>A, NM_001129838.1:c.5614G>A, NM_001129837.2:c.5614G>A, NM_001129837.1:c.5614G>A, NM_001129839.2:c.5608G>A, NM_001129839.1:c.5608G>A, NM_001167623.2:c.5590G>A, NM_001167623.1:c.5590G>A, NM_001129843.2:c.5590G>A, NM_001129843.1:c.5590G>A, NM_001129842.2:c.5590G>A, NM_001129842.1:c.5590G>A, NM_001129841.2:c.5590G>A, NM_001129841.1:c.5590G>A, NM_001129840.2:c.5590G>A, NM_001129840.1:c.5590G>A, NM_001129844.2:c.5581G>A, NM_001129844.1:c.5581G>A, NM_001129846.2:c.5557G>A, NM_001129846.1:c.5557G>A, NW_018654718.1:g.1033868G>A, XM_011521023.4:c.5665G>A, XM_011521023.3:c.5665G>A, XM_011521023.2:c.5665G>A, XM_011521023.1:c.5665G>A, XM_017019926.3:c.6412G>A, XM_017019926.2:c.6412G>A, XM_017019926.1:c.6412G>A, XM_017019927.3:c.6307G>A, XM_017019927.2:c.6307G>A, XM_017019927.1:c.6307G>A, XM_017019928.3:c.6094G>A, XM_017019928.2:c.6094G>A, XM_017019928.1:c.6094G>A, XM_017019930.3:c.6037G>A, XM_017019930.2:c.6037G>A, XM_017019930.1:c.6037G>A, XM_017019929.3:c.6037G>A, XM_017019929.2:c.6037G>A, XM_017019929.1:c.6037G>A, XM_017019931.3:c.5953G>A, XM_017019931.2:c.5953G>A, XM_017019931.1:c.5953G>A, XM_017019932.3:c.5938G>A, XM_017019932.2:c.5938G>A, XM_017019932.1:c.5938G>A, XM_017019933.3:c.5842G>A, XM_017019933.2:c.5842G>A, XM_017019933.1:c.5842G>A, XM_017019955.3:c.5833G>A, XM_017019955.2:c.5833G>A, XM_017019955.1:c.5833G>A, XM_017019935.3:c.5833G>A, XM_017019935.2:c.5833G>A, XM_017019935.1:c.5833G>A, XM_017019934.3:c.5833G>A, XM_017019934.2:c.5833G>A, XM_017019934.1:c.5833G>A, XM_017019939.3:c.5809G>A, XM_017019939.2:c.5809G>A, XM_017019939.1:c.5809G>A, XM_017019949.3:c.5758G>A, XM_017019949.2:c.5758G>A, XM_017019949.1:c.5758G>A, XM_017019948.3:c.5758G>A, XM_017019948.2:c.5758G>A, XM_017019948.1:c.5758G>A, XM_017019947.3:c.5758G>A, XM_017019947.2:c.5758G>A, XM_017019947.1:c.5758G>A, XM_017019946.3:c.5758G>A, XM_017019946.2:c.5758G>A, XM_017019946.1:c.5758G>A, XM_017019954.2:c.5680G>A, XM_017019954.1:c.5680G>A, XM_017019953.2:c.5680G>A, XM_017019953.1:c.5680G>A, XM_017019945.3:c.5758G>A, XM_017019945.2:c.5758G>A, XM_017019945.1:c.5758G>A, XM_017019944.3:c.5758G>A, XM_017019944.2:c.5758G>A, XM_017019944.1:c.5758G>A, XM_017019943.3:c.5758G>A, XM_017019943.2:c.5758G>A, XM_017019943.1:c.5758G>A, XM_011521020.3:c.5755G>A, XM_011521020.2:c.5755G>A, XM_011521020.1:c.5755G>A, XM_017019950.3:c.5752G>A, XM_017019950.2:c.5752G>A, XM_017019950.1:c.5752G>A, XM_006719017.3:c.5680G>A, XM_006719017.2:c.5680G>A, XM_006719017.1:c.5680G>A, XM_047429515.1:c.5953G>A, XM_047429518.1:c.5920G>A, XM_047429517.1:c.5920G>A, XM_047429519.1:c.5833G>A, XM_047429520.1:c.4753G>A, XM_047429513.1:c.6250G>A, XM_047429514.1:c.6031G>A, XM_047429516.1:c.5953G>A, NP_000710.5:p.Asp1864Asn, NP_955630.3:p.Asp1947Asn, NP_001161096.2:p.Asp1899Asn, NP_001123302.2:p.Asp1899Asn, NP_001161097.1:p.Asp1924Asn, NP_001123299.1:p.Asp1912Asn, NP_001123301.1:p.Asp1905Asn, NP_001123303.1:p.Asp1892Asn, NP_001123304.1:p.Asp1884Asn, NP_001123307.1:p.Asp1883Asn, NP_001123306.1:p.Asp1883Asn, NP_001123305.1:p.Asp1883Asn, NP_001123308.1:p.Asp1881Asn, NP_001123310.1:p.Asp1872Asn, NP_001123309.1:p.Asp1872Asn, NP_001123311.1:p.Asp1870Asn, NP_001161095.1:p.Asp1864Asn, NP_001123315.1:p.Asp1864Asn, NP_001123314.1:p.Asp1864Asn, NP_001123313.1:p.Asp1864Asn, NP_001123312.1:p.Asp1864Asn, NP_001123316.1:p.Asp1861Asn, NP_001123318.1:p.Asp1853Asn, XP_011519325.1:p.Asp1889Asn, XP_016875415.1:p.Asp2138Asn, XP_016875416.1:p.Asp2103Asn, XP_016875417.1:p.Asp2032Asn, XP_016875419.1:p.Asp2013Asn, XP_016875418.1:p.Asp2013Asn, XP_016875420.1:p.Asp1985Asn, XP_016875421.1:p.Asp1980Asn, XP_016875422.1:p.Asp1948Asn, XP_016875444.1:p.Asp1945Asn, XP_016875424.1:p.Asp1945Asn, XP_016875423.1:p.Asp1945Asn, XP_016875428.1:p.Asp1937Asn, XP_016875438.1:p.Asp1920Asn, XP_016875437.1:p.Asp1920Asn, XP_016875436.1:p.Asp1920Asn, XP_016875435.1:p.Asp1920Asn, XP_016875443.1:p.Asp1894Asn, XP_016875442.1:p.Asp1894Asn, XP_016875434.1:p.Asp1920Asn, XP_016875433.1:p.Asp1920Asn, XP_016875432.1:p.Asp1920Asn, XP_011519322.1:p.Asp1919Asn, XP_016875439.1:p.Asp1918Asn, XP_006719080.1:p.Asp1894Asn, XP_047285471.1:p.Asp1985Asn, XP_047285474.1:p.Asp1974Asn, XP_047285473.1:p.Asp1974Asn, XP_047285475.1:p.Asp1945Asn, XP_047285476.1:p.Asp1585Asn, XP_047285469.1:p.Asp2084Asn, XP_047285470.1:p.Asp2011Asn, XP_047285472.1:p.Asp1985Asn

                            14.

                            rs1479809866 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              12:2686245 (GRCh38)
                              12:2795411 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:2686244:G:T
                              Gene:
                              CACNA1C (Varview), CACNA1C-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000012.12:g.2686245G>T, NC_000012.11:g.2795411G>T, NG_008801.2:g.720460G>T, NM_000719.7:c.5760G>T, NM_000719.6:c.5760G>T, NM_199460.4:c.6009G>T, NM_199460.3:c.6009G>T, NM_199460.2:c.6009G>T, NM_001167624.3:c.5865G>T, NM_001167624.2:c.5865G>T, NM_001167624.1:c.5865G>T, NM_001129830.3:c.5865G>T, NM_001129830.2:c.5865G>T, NM_001129830.1:c.5865G>T, NM_001167625.2:c.5940G>T, NM_001167625.1:c.5940G>T, NM_001129827.2:c.5904G>T, NM_001129827.1:c.5904G>T, NM_001129829.2:c.5883G>T, NM_001129829.1:c.5883G>T, NM_001129831.2:c.5844G>T, NM_001129831.1:c.5844G>T, NM_001129832.2:c.5820G>T, NM_001129832.1:c.5820G>T, NM_001129835.2:c.5817G>T, NM_001129835.1:c.5817G>T, NM_001129834.2:c.5817G>T, NM_001129834.1:c.5817G>T, NM_001129833.2:c.5817G>T, NM_001129833.1:c.5817G>T, NM_001129836.2:c.5811G>T, NM_001129836.1:c.5811G>T, NM_001129838.2:c.5784G>T, NM_001129838.1:c.5784G>T, NM_001129837.2:c.5784G>T, NM_001129837.1:c.5784G>T, NM_001129839.2:c.5778G>T, NM_001129839.1:c.5778G>T, NM_001167623.2:c.5760G>T, NM_001167623.1:c.5760G>T, NM_001129843.2:c.5760G>T, NM_001129843.1:c.5760G>T, NM_001129842.2:c.5760G>T, NM_001129842.1:c.5760G>T, NM_001129841.2:c.5760G>T, NM_001129841.1:c.5760G>T, NM_001129840.2:c.5760G>T, NM_001129840.1:c.5760G>T, NM_001129844.2:c.5751G>T, NM_001129844.1:c.5751G>T, NM_001129846.2:c.5727G>T, NM_001129846.1:c.5727G>T, NW_018654718.1:g.1034361G>T, XM_011521023.4:c.5835G>T, XM_011521023.3:c.5835G>T, XM_011521023.2:c.5835G>T, XM_011521023.1:c.5835G>T, XM_017019926.3:c.6582G>T, XM_017019926.2:c.6582G>T, XM_017019926.1:c.6582G>T, XM_017019927.3:c.6477G>T, XM_017019927.2:c.6477G>T, XM_017019927.1:c.6477G>T, XM_017019928.3:c.6264G>T, XM_017019928.2:c.6264G>T, XM_017019928.1:c.6264G>T, XM_017019930.3:c.6207G>T, XM_017019930.2:c.6207G>T, XM_017019930.1:c.6207G>T, XM_017019929.3:c.6207G>T, XM_017019929.2:c.6207G>T, XM_017019929.1:c.6207G>T, XM_017019931.3:c.6123G>T, XM_017019931.2:c.6123G>T, XM_017019931.1:c.6123G>T, XM_017019932.3:c.6108G>T, XM_017019932.2:c.6108G>T, XM_017019932.1:c.6108G>T, XM_017019933.3:c.6012G>T, XM_017019933.2:c.6012G>T, XM_017019933.1:c.6012G>T, XM_017019955.3:c.6003G>T, XM_017019955.2:c.6003G>T, XM_017019955.1:c.6003G>T, XM_017019935.3:c.6003G>T, XM_017019935.2:c.6003G>T, XM_017019935.1:c.6003G>T, XM_017019934.3:c.6003G>T, XM_017019934.2:c.6003G>T, XM_017019934.1:c.6003G>T, XM_017019939.3:c.5979G>T, XM_017019939.2:c.5979G>T, XM_017019939.1:c.5979G>T, XM_017019949.3:c.5928G>T, XM_017019949.2:c.5928G>T, XM_017019949.1:c.5928G>T, XM_017019948.3:c.5928G>T, XM_017019948.2:c.5928G>T, XM_017019948.1:c.5928G>T, XM_017019947.3:c.5928G>T, XM_017019947.2:c.5928G>T, XM_017019947.1:c.5928G>T, XM_017019946.3:c.5928G>T, XM_017019946.2:c.5928G>T, XM_017019946.1:c.5928G>T, XM_017019954.2:c.5850G>T, XM_017019954.1:c.5850G>T, XM_017019953.2:c.5850G>T, XM_017019953.1:c.5850G>T, XM_017019945.3:c.5928G>T, XM_017019945.2:c.5928G>T, XM_017019945.1:c.5928G>T, XM_017019944.3:c.5928G>T, XM_017019944.2:c.5928G>T, XM_017019944.1:c.5928G>T, XM_017019943.3:c.5928G>T, XM_017019943.2:c.5928G>T, XM_017019943.1:c.5928G>T, XM_011521020.3:c.5925G>T, XM_011521020.2:c.5925G>T, XM_011521020.1:c.5925G>T, XM_017019950.3:c.5922G>T, XM_017019950.2:c.5922G>T, XM_017019950.1:c.5922G>T, XM_006719017.3:c.5850G>T, XM_006719017.2:c.5850G>T, XM_006719017.1:c.5850G>T, XM_047429515.1:c.6123G>T, XM_047429518.1:c.6090G>T, XM_047429517.1:c.6090G>T, XM_047429519.1:c.6003G>T, XM_047429520.1:c.4923G>T, XM_047429513.1:c.6420G>T, XM_047429514.1:c.6201G>T, XM_047429516.1:c.6123G>T

                              15.

                              rs1479799949 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:2677860 (GRCh38)
                                12:2787026 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:2677859:T:C
                                Gene:
                                CACNA1C (Varview), CACNA1C-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.2677860T>C, NC_000012.11:g.2787026T>C, NG_008801.2:g.712075T>C, NM_000719.7:c.5084T>C, NM_000719.6:c.5084T>C, NM_199460.4:c.5228T>C, NM_199460.3:c.5228T>C, NM_199460.2:c.5228T>C, NM_001167624.3:c.5084T>C, NM_001167624.2:c.5084T>C, NM_001167624.1:c.5084T>C, NM_001129830.3:c.5084T>C, NM_001129830.2:c.5084T>C, NM_001129830.1:c.5084T>C, NM_001167625.2:c.5051T>C, NM_001167625.1:c.5051T>C, NM_001129827.2:c.5228T>C, NM_001129827.1:c.5228T>C, NM_001129829.2:c.5207T>C, NM_001129829.1:c.5207T>C, NM_001129831.2:c.5168T>C, NM_001129831.1:c.5168T>C, NM_001129832.2:c.5144T>C, NM_001129832.1:c.5144T>C, NM_001129835.2:c.5141T>C, NM_001129835.1:c.5141T>C, NM_001129834.2:c.5141T>C, NM_001129834.1:c.5141T>C, NM_001129833.2:c.5141T>C, NM_001129833.1:c.5141T>C, NM_001129836.2:c.5135T>C, NM_001129836.1:c.5135T>C, NM_001129838.2:c.5108T>C, NM_001129838.1:c.5108T>C, NM_001129837.2:c.5108T>C, NM_001129837.1:c.5108T>C, NM_001129839.2:c.5102T>C, NM_001129839.1:c.5102T>C, NM_001167623.2:c.5084T>C, NM_001167623.1:c.5084T>C, NM_001129843.2:c.5084T>C, NM_001129843.1:c.5084T>C, NM_001129842.2:c.5084T>C, NM_001129842.1:c.5084T>C, NM_001129841.2:c.5084T>C, NM_001129841.1:c.5084T>C, NM_001129840.2:c.5084T>C, NM_001129840.1:c.5084T>C, NM_001129844.2:c.5075T>C, NM_001129844.1:c.5075T>C, NM_001129846.2:c.5051T>C, NM_001129846.1:c.5051T>C, NW_018654718.1:g.1025976T>C, XM_011521023.4:c.5159T>C, XM_011521023.3:c.5159T>C, XM_011521023.2:c.5159T>C, XM_011521023.1:c.5159T>C, XM_017019926.3:c.5588T>C, XM_017019926.2:c.5588T>C, XM_017019926.1:c.5588T>C, XM_017019927.3:c.5588T>C, XM_017019927.2:c.5588T>C, XM_017019927.1:c.5588T>C, XM_017019928.3:c.5588T>C, XM_017019928.2:c.5588T>C, XM_017019928.1:c.5588T>C, XM_017019930.3:c.5531T>C, XM_017019930.2:c.5531T>C, XM_017019930.1:c.5531T>C, XM_017019929.3:c.5531T>C, XM_017019929.2:c.5531T>C, XM_017019929.1:c.5531T>C, XM_017019931.3:c.5447T>C, XM_017019931.2:c.5447T>C, XM_017019931.1:c.5447T>C, XM_017019932.3:c.5219T>C, XM_017019932.2:c.5219T>C, XM_017019932.1:c.5219T>C, XM_017019933.3:c.5336T>C, XM_017019933.2:c.5336T>C, XM_017019933.1:c.5336T>C, XM_017019955.3:c.5327T>C, XM_017019955.2:c.5327T>C, XM_017019955.1:c.5327T>C, XM_017019935.3:c.5327T>C, XM_017019935.2:c.5327T>C, XM_017019935.1:c.5327T>C, XM_017019934.3:c.5327T>C, XM_017019934.2:c.5327T>C, XM_017019934.1:c.5327T>C, XM_017019939.3:c.5303T>C, XM_017019939.2:c.5303T>C, XM_017019939.1:c.5303T>C, XM_017019949.3:c.5252T>C, XM_017019949.2:c.5252T>C, XM_017019949.1:c.5252T>C, XM_017019948.3:c.5252T>C, XM_017019948.2:c.5252T>C, XM_017019948.1:c.5252T>C, XM_017019947.3:c.5252T>C, XM_017019947.2:c.5252T>C, XM_017019947.1:c.5252T>C, XM_017019946.3:c.5252T>C, XM_017019946.2:c.5252T>C, XM_017019946.1:c.5252T>C, XM_017019954.2:c.5174T>C, XM_017019954.1:c.5174T>C, XM_017019953.2:c.5174T>C, XM_017019953.1:c.5174T>C, XM_017019945.3:c.5252T>C, XM_017019945.2:c.5252T>C, XM_017019945.1:c.5252T>C, XM_017019944.3:c.5252T>C, XM_017019944.2:c.5252T>C, XM_017019944.1:c.5252T>C, XM_017019943.3:c.5252T>C, XM_017019943.2:c.5252T>C, XM_017019943.1:c.5252T>C, XM_011521020.3:c.5249T>C, XM_011521020.2:c.5249T>C, XM_011521020.1:c.5249T>C, XM_017019950.3:c.5246T>C, XM_017019950.2:c.5246T>C, XM_017019950.1:c.5246T>C, XM_006719017.3:c.5174T>C, XM_006719017.2:c.5174T>C, XM_006719017.1:c.5174T>C, NR_045725.1:n.371A>G, XM_047429515.1:c.5447T>C, XM_047429518.1:c.5414T>C, XM_047429517.1:c.5414T>C, XM_047429519.1:c.5327T>C, XM_047429520.1:c.4247T>C, XM_047429513.1:c.5531T>C, XM_047429514.1:c.5525T>C, XM_047429516.1:c.5447T>C, NP_000710.5:p.Ile1695Thr, NP_955630.3:p.Ile1743Thr, NP_001161096.2:p.Ile1695Thr, NP_001123302.2:p.Ile1695Thr, NP_001161097.1:p.Ile1684Thr, NP_001123299.1:p.Ile1743Thr, NP_001123301.1:p.Ile1736Thr, NP_001123303.1:p.Ile1723Thr, NP_001123304.1:p.Ile1715Thr, NP_001123307.1:p.Ile1714Thr, NP_001123306.1:p.Ile1714Thr, NP_001123305.1:p.Ile1714Thr, NP_001123308.1:p.Ile1712Thr, NP_001123310.1:p.Ile1703Thr, NP_001123309.1:p.Ile1703Thr, NP_001123311.1:p.Ile1701Thr, NP_001161095.1:p.Ile1695Thr, NP_001123315.1:p.Ile1695Thr, NP_001123314.1:p.Ile1695Thr, NP_001123313.1:p.Ile1695Thr, NP_001123312.1:p.Ile1695Thr, NP_001123316.1:p.Ile1692Thr, NP_001123318.1:p.Ile1684Thr, XP_011519325.1:p.Ile1720Thr, XP_016875415.1:p.Ile1863Thr, XP_016875416.1:p.Ile1863Thr, XP_016875417.1:p.Ile1863Thr, XP_016875419.1:p.Ile1844Thr, XP_016875418.1:p.Ile1844Thr, XP_016875420.1:p.Ile1816Thr, XP_016875421.1:p.Ile1740Thr, XP_016875422.1:p.Ile1779Thr, XP_016875444.1:p.Ile1776Thr, XP_016875424.1:p.Ile1776Thr, XP_016875423.1:p.Ile1776Thr, XP_016875428.1:p.Ile1768Thr, XP_016875438.1:p.Ile1751Thr, XP_016875437.1:p.Ile1751Thr, XP_016875436.1:p.Ile1751Thr, XP_016875435.1:p.Ile1751Thr, XP_016875443.1:p.Ile1725Thr, XP_016875442.1:p.Ile1725Thr, XP_016875434.1:p.Ile1751Thr, XP_016875433.1:p.Ile1751Thr, XP_016875432.1:p.Ile1751Thr, XP_011519322.1:p.Ile1750Thr, XP_016875439.1:p.Ile1749Thr, XP_006719080.1:p.Ile1725Thr, XP_047285471.1:p.Ile1816Thr, XP_047285474.1:p.Ile1805Thr, XP_047285473.1:p.Ile1805Thr, XP_047285475.1:p.Ile1776Thr, XP_047285476.1:p.Ile1416Thr, XP_047285469.1:p.Ile1844Thr, XP_047285470.1:p.Ile1842Thr, XP_047285472.1:p.Ile1816Thr

                                16.

                                rs1479610808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:2493247 (GRCh38)
                                  12:2602413 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:2493246:A:G
                                  Gene:
                                  CACNA1C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.2493247A>G, NC_000012.11:g.2602413A>G, NG_008801.2:g.527462A>G, NM_000719.7:c.974A>G, NM_000719.6:c.974A>G, NM_199460.4:c.974A>G, NM_199460.3:c.974A>G, NM_199460.2:c.974A>G, NM_001167624.3:c.974A>G, NM_001167624.2:c.974A>G, NM_001167624.1:c.974A>G, NM_001129830.3:c.974A>G, NM_001129830.2:c.974A>G, NM_001129830.1:c.974A>G, NM_001167625.2:c.974A>G, NM_001167625.1:c.974A>G, NM_001129827.2:c.974A>G, NM_001129827.1:c.974A>G, NM_001129829.2:c.974A>G, NM_001129829.1:c.974A>G, NM_001129831.2:c.974A>G, NM_001129831.1:c.974A>G, NM_001129832.2:c.974A>G, NM_001129832.1:c.974A>G, NM_001129835.2:c.974A>G, NM_001129835.1:c.974A>G, NM_001129834.2:c.974A>G, NM_001129834.1:c.974A>G, NM_001129833.2:c.974A>G, NM_001129833.1:c.974A>G, NM_001129836.2:c.974A>G, NM_001129836.1:c.974A>G, NM_001129838.2:c.974A>G, NM_001129838.1:c.974A>G, NM_001129837.2:c.974A>G, NM_001129837.1:c.974A>G, NM_001129839.2:c.974A>G, NM_001129839.1:c.974A>G, NM_001167623.2:c.974A>G, NM_001167623.1:c.974A>G, NM_001129843.2:c.974A>G, NM_001129843.1:c.974A>G, NM_001129842.2:c.974A>G, NM_001129842.1:c.974A>G, NM_001129841.2:c.974A>G, NM_001129841.1:c.974A>G, NM_001129840.2:c.974A>G, NM_001129840.1:c.974A>G, NM_001129844.2:c.965A>G, NM_001129844.1:c.965A>G, NM_001129846.2:c.974A>G, NM_001129846.1:c.974A>G, NW_018654718.1:g.841363A>G, XM_011521023.4:c.974A>G, XM_011521023.3:c.974A>G, XM_011521023.2:c.974A>G, XM_011521023.1:c.974A>G, XM_017019926.3:c.1142A>G, XM_017019926.2:c.1142A>G, XM_017019926.1:c.1142A>G, XM_017019927.3:c.1142A>G, XM_017019927.2:c.1142A>G, XM_017019927.1:c.1142A>G, XM_017019928.3:c.1142A>G, XM_017019928.2:c.1142A>G, XM_017019928.1:c.1142A>G, XM_017019930.3:c.1142A>G, XM_017019930.2:c.1142A>G, XM_017019930.1:c.1142A>G, XM_017019929.3:c.1142A>G, XM_017019929.2:c.1142A>G, XM_017019929.1:c.1142A>G, XM_017019931.3:c.1142A>G, XM_017019931.2:c.1142A>G, XM_017019931.1:c.1142A>G, XM_017019932.3:c.1142A>G, XM_017019932.2:c.1142A>G, XM_017019932.1:c.1142A>G, XM_017019933.3:c.1142A>G, XM_017019933.2:c.1142A>G, XM_017019933.1:c.1142A>G, XM_017019955.3:c.1142A>G, XM_017019955.2:c.1142A>G, XM_017019955.1:c.1142A>G, XM_017019935.3:c.1142A>G, XM_017019935.2:c.1142A>G, XM_017019935.1:c.1142A>G, XM_017019934.3:c.1142A>G, XM_017019934.2:c.1142A>G, XM_017019934.1:c.1142A>G, XM_017019939.3:c.1142A>G, XM_017019939.2:c.1142A>G, XM_017019939.1:c.1142A>G, XM_017019949.3:c.1142A>G, XM_017019949.2:c.1142A>G, XM_017019949.1:c.1142A>G, XM_017019948.3:c.1142A>G, XM_017019948.2:c.1142A>G, XM_017019948.1:c.1142A>G, XM_017019947.3:c.1142A>G, XM_017019947.2:c.1142A>G, XM_017019947.1:c.1142A>G, XM_017019945.3:c.1142A>G, XM_017019945.2:c.1142A>G, XM_017019945.1:c.1142A>G, XM_017019944.3:c.1142A>G, XM_017019944.2:c.1142A>G, XM_017019944.1:c.1142A>G, XM_017019943.3:c.1142A>G, XM_017019943.2:c.1142A>G, XM_017019943.1:c.1142A>G, XM_011521020.3:c.1064A>G, XM_011521020.2:c.1064A>G, XM_011521020.1:c.1064A>G, XM_017019954.2:c.1064A>G, XM_017019954.1:c.1064A>G, XM_017019953.2:c.1064A>G, XM_017019953.1:c.1064A>G, XM_017019946.3:c.1142A>G, XM_017019946.2:c.1142A>G, XM_017019946.1:c.1142A>G, XM_017019950.3:c.1142A>G, XM_017019950.2:c.1142A>G, XM_017019950.1:c.1142A>G, XM_006719017.3:c.1064A>G, XM_006719017.2:c.1064A>G, XM_006719017.1:c.1064A>G, XM_047429516.1:c.1142A>G, XM_047429515.1:c.1142A>G, XM_047429518.1:c.1142A>G, XM_047429517.1:c.1142A>G, XM_047429519.1:c.1142A>G, XM_047429514.1:c.1142A>G, XM_047429513.1:c.1142A>G, XM_047429520.1:c.170A>G, NP_000710.5:p.Gln325Arg, NP_955630.3:p.Gln325Arg, NP_001161096.2:p.Gln325Arg, NP_001123302.2:p.Gln325Arg, NP_001161097.1:p.Gln325Arg, NP_001123299.1:p.Gln325Arg, NP_001123301.1:p.Gln325Arg, NP_001123303.1:p.Gln325Arg, NP_001123304.1:p.Gln325Arg, NP_001123307.1:p.Gln325Arg, NP_001123306.1:p.Gln325Arg, NP_001123305.1:p.Gln325Arg, NP_001123308.1:p.Gln325Arg, NP_001123310.1:p.Gln325Arg, NP_001123309.1:p.Gln325Arg, NP_001123311.1:p.Gln325Arg, NP_001161095.1:p.Gln325Arg, NP_001123315.1:p.Gln325Arg, NP_001123314.1:p.Gln325Arg, NP_001123313.1:p.Gln325Arg, NP_001123312.1:p.Gln325Arg, NP_001123316.1:p.Gln322Arg, NP_001123318.1:p.Gln325Arg, XP_011519325.1:p.Gln325Arg, XP_016875415.1:p.Gln381Arg, XP_016875416.1:p.Gln381Arg, XP_016875417.1:p.Gln381Arg, XP_016875419.1:p.Gln381Arg, XP_016875418.1:p.Gln381Arg, XP_016875420.1:p.Gln381Arg, XP_016875421.1:p.Gln381Arg, XP_016875422.1:p.Gln381Arg, XP_016875444.1:p.Gln381Arg, XP_016875424.1:p.Gln381Arg, XP_016875423.1:p.Gln381Arg, XP_016875428.1:p.Gln381Arg, XP_016875438.1:p.Gln381Arg, XP_016875437.1:p.Gln381Arg, XP_016875436.1:p.Gln381Arg, XP_016875434.1:p.Gln381Arg, XP_016875433.1:p.Gln381Arg, XP_016875432.1:p.Gln381Arg, XP_011519322.1:p.Gln355Arg, XP_016875443.1:p.Gln355Arg, XP_016875442.1:p.Gln355Arg, XP_016875435.1:p.Gln381Arg, XP_016875439.1:p.Gln381Arg, XP_006719080.1:p.Gln355Arg, XP_047285472.1:p.Gln381Arg, XP_047285471.1:p.Gln381Arg, XP_047285474.1:p.Gln381Arg, XP_047285473.1:p.Gln381Arg, XP_047285475.1:p.Gln381Arg, XP_047285470.1:p.Gln381Arg, XP_047285469.1:p.Gln381Arg, XP_047285476.1:p.Gln57Arg

                                  17.

                                  rs1476876961 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:2593328 (GRCh38)
                                    12:2702494 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:2593327:C:A
                                    Gene:
                                    CACNA1C (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.2593328C>A, NC_000012.11:g.2702494C>A, NG_008801.2:g.627543C>A, NM_000719.7:c.2646C>A, NM_000719.6:c.2646C>A, NM_199460.4:c.2646C>A, NM_199460.3:c.2646C>A, NM_199460.2:c.2646C>A, NM_001167624.3:c.2646C>A, NM_001167624.2:c.2646C>A, NM_001167624.1:c.2646C>A, NM_001129830.3:c.2646C>A, NM_001129830.2:c.2646C>A, NM_001129830.1:c.2646C>A, NM_001167625.2:c.2646C>A, NM_001167625.1:c.2646C>A, NM_001129827.2:c.2646C>A, NM_001129827.1:c.2646C>A, NM_001129829.2:c.2646C>A, NM_001129829.1:c.2646C>A, NM_001129831.2:c.2646C>A, NM_001129831.1:c.2646C>A, NM_001129832.2:c.2646C>A, NM_001129832.1:c.2646C>A, NM_001129835.2:c.2646C>A, NM_001129835.1:c.2646C>A, NM_001129834.2:c.2646C>A, NM_001129834.1:c.2646C>A, NM_001129833.2:c.2646C>A, NM_001129833.1:c.2646C>A, NM_001129836.2:c.2646C>A, NM_001129836.1:c.2646C>A, NM_001129838.2:c.2646C>A, NM_001129838.1:c.2646C>A, NM_001129837.2:c.2646C>A, NM_001129837.1:c.2646C>A, NM_001129839.2:c.2646C>A, NM_001129839.1:c.2646C>A, NM_001167623.2:c.2646C>A, NM_001167623.1:c.2646C>A, NM_001129843.2:c.2646C>A, NM_001129843.1:c.2646C>A, NM_001129842.2:c.2646C>A, NM_001129842.1:c.2646C>A, NM_001129841.2:c.2646C>A, NM_001129841.1:c.2646C>A, NM_001129840.2:c.2646C>A, NM_001129840.1:c.2646C>A, NM_001129844.2:c.2637C>A, NM_001129844.1:c.2637C>A, NM_001129846.2:c.2646C>A, NM_001129846.1:c.2646C>A, NW_018654718.1:g.941444C>A, XM_011521023.4:c.2721C>A, XM_011521023.3:c.2721C>A, XM_011521023.2:c.2721C>A, XM_011521023.1:c.2721C>A, XM_017019926.3:c.3009C>A, XM_017019926.2:c.3009C>A, XM_017019926.1:c.3009C>A, XM_017019927.3:c.3009C>A, XM_017019927.2:c.3009C>A, XM_017019927.1:c.3009C>A, XM_017019928.3:c.3009C>A, XM_017019928.2:c.3009C>A, XM_017019928.1:c.3009C>A, XM_017019930.3:c.3009C>A, XM_017019930.2:c.3009C>A, XM_017019930.1:c.3009C>A, XM_017019929.3:c.3009C>A, XM_017019929.2:c.3009C>A, XM_017019929.1:c.3009C>A, XM_017019931.3:c.3009C>A, XM_017019931.2:c.3009C>A, XM_017019931.1:c.3009C>A, XM_017019932.3:c.2814C>A, XM_017019932.2:c.2814C>A, XM_017019932.1:c.2814C>A, XM_017019933.3:c.2814C>A, XM_017019933.2:c.2814C>A, XM_017019933.1:c.2814C>A, XM_017019955.3:c.2889C>A, XM_017019955.2:c.2889C>A, XM_017019955.1:c.2889C>A, XM_017019935.3:c.2889C>A, XM_017019935.2:c.2889C>A, XM_017019935.1:c.2889C>A, XM_017019934.3:c.2889C>A, XM_017019934.2:c.2889C>A, XM_017019934.1:c.2889C>A, XM_017019939.3:c.2814C>A, XM_017019939.2:c.2814C>A, XM_017019939.1:c.2814C>A, XM_017019949.3:c.2814C>A, XM_017019949.2:c.2814C>A, XM_017019949.1:c.2814C>A, XM_017019948.3:c.2814C>A, XM_017019948.2:c.2814C>A, XM_017019948.1:c.2814C>A, XM_017019947.3:c.2814C>A, XM_017019947.2:c.2814C>A, XM_017019947.1:c.2814C>A, XM_017019945.3:c.2814C>A, XM_017019945.2:c.2814C>A, XM_017019945.1:c.2814C>A, XM_017019944.3:c.2814C>A, XM_017019944.2:c.2814C>A, XM_017019944.1:c.2814C>A, XM_017019943.3:c.2814C>A, XM_017019943.2:c.2814C>A, XM_017019943.1:c.2814C>A, XM_011521020.3:c.2811C>A, XM_011521020.2:c.2811C>A, XM_011521020.1:c.2811C>A, XM_017019954.2:c.2736C>A, XM_017019954.1:c.2736C>A, XM_017019953.2:c.2736C>A, XM_017019953.1:c.2736C>A, XM_017019946.3:c.2814C>A, XM_017019946.2:c.2814C>A, XM_017019946.1:c.2814C>A, XM_017019950.3:c.2814C>A, XM_017019950.2:c.2814C>A, XM_017019950.1:c.2814C>A, XM_006719017.3:c.2736C>A, XM_006719017.2:c.2736C>A, XM_006719017.1:c.2736C>A, XM_047429516.1:c.3009C>A, XM_047429515.1:c.3009C>A, XM_047429518.1:c.3009C>A, XM_047429517.1:c.3009C>A, XM_047429519.1:c.2889C>A, XM_047429514.1:c.3009C>A, XM_047429513.1:c.3009C>A, XM_047429520.1:c.1842C>A

                                    18.

                                    rs1476420888 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:2655230 (GRCh38)
                                      12:2764396 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:2655229:C:T
                                      Gene:
                                      CACNA1C (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.2655230C>T, NC_000012.11:g.2764396C>T, NG_008801.2:g.689445C>T, NM_000719.7:c.4224C>T, NM_000719.6:c.4224C>T, NM_199460.4:c.4368C>T, NM_199460.3:c.4368C>T, NM_199460.2:c.4368C>T, NM_001167624.3:c.4224C>T, NM_001167624.2:c.4224C>T, NM_001167624.1:c.4224C>T, NM_001129830.3:c.4224C>T, NM_001129830.2:c.4224C>T, NM_001129830.1:c.4224C>T, NM_001167625.2:c.4191C>T, NM_001167625.1:c.4191C>T, NM_001129827.2:c.4368C>T, NM_001129827.1:c.4368C>T, NM_001129829.2:c.4290C>T, NM_001129829.1:c.4290C>T, NM_001129831.2:c.4308C>T, NM_001129831.1:c.4308C>T, NM_001129832.2:c.4284C>T, NM_001129832.1:c.4284C>T, NM_001129835.2:c.4224C>T, NM_001129835.1:c.4224C>T, NM_001129834.2:c.4224C>T, NM_001129834.1:c.4224C>T, NM_001129833.2:c.4224C>T, NM_001129833.1:c.4224C>T, NM_001129836.2:c.4275C>T, NM_001129836.1:c.4275C>T, NM_001129838.2:c.4191C>T, NM_001129838.1:c.4191C>T, NM_001129837.2:c.4191C>T, NM_001129837.1:c.4191C>T, NM_001129839.2:c.4185C>T, NM_001129839.1:c.4185C>T, NM_001167623.2:c.4224C>T, NM_001167623.1:c.4224C>T, NM_001129843.2:c.4224C>T, NM_001129843.1:c.4224C>T, NM_001129842.2:c.4224C>T, NM_001129842.1:c.4224C>T, NM_001129841.2:c.4224C>T, NM_001129841.1:c.4224C>T, NM_001129840.2:c.4224C>T, NM_001129840.1:c.4224C>T, NM_001129844.2:c.4215C>T, NM_001129844.1:c.4215C>T, NM_001129846.2:c.4191C>T, NM_001129846.1:c.4191C>T, NW_018654718.1:g.1003346C>T, XM_011521023.4:c.4299C>T, XM_011521023.3:c.4299C>T, XM_011521023.2:c.4299C>T, XM_011521023.1:c.4299C>T, XM_017019926.3:c.4671C>T, XM_017019926.2:c.4671C>T, XM_017019926.1:c.4671C>T, XM_017019927.3:c.4671C>T, XM_017019927.2:c.4671C>T, XM_017019927.1:c.4671C>T, XM_017019928.3:c.4671C>T, XM_017019928.2:c.4671C>T, XM_017019928.1:c.4671C>T, XM_017019930.3:c.4671C>T, XM_017019930.2:c.4671C>T, XM_017019930.1:c.4671C>T, XM_017019929.3:c.4671C>T, XM_017019929.2:c.4671C>T, XM_017019929.1:c.4671C>T, XM_017019931.3:c.4587C>T, XM_017019931.2:c.4587C>T, XM_017019931.1:c.4587C>T, XM_017019932.3:c.4359C>T, XM_017019932.2:c.4359C>T, XM_017019932.1:c.4359C>T, XM_017019933.3:c.4476C>T, XM_017019933.2:c.4476C>T, XM_017019933.1:c.4476C>T, XM_017019955.3:c.4467C>T, XM_017019955.2:c.4467C>T, XM_017019955.1:c.4467C>T, XM_017019935.3:c.4467C>T, XM_017019935.2:c.4467C>T, XM_017019935.1:c.4467C>T, XM_017019934.3:c.4467C>T, XM_017019934.2:c.4467C>T, XM_017019934.1:c.4467C>T, XM_017019939.3:c.4443C>T, XM_017019939.2:c.4443C>T, XM_017019939.1:c.4443C>T, XM_017019949.3:c.4392C>T, XM_017019949.2:c.4392C>T, XM_017019949.1:c.4392C>T, XM_017019948.3:c.4392C>T, XM_017019948.2:c.4392C>T, XM_017019948.1:c.4392C>T, XM_017019947.3:c.4392C>T, XM_017019947.2:c.4392C>T, XM_017019947.1:c.4392C>T, XM_017019945.3:c.4392C>T, XM_017019945.2:c.4392C>T, XM_017019945.1:c.4392C>T, XM_017019944.3:c.4392C>T, XM_017019944.2:c.4392C>T, XM_017019944.1:c.4392C>T, XM_017019943.3:c.4392C>T, XM_017019943.2:c.4392C>T, XM_017019943.1:c.4392C>T, XM_011521020.3:c.4389C>T, XM_011521020.2:c.4389C>T, XM_011521020.1:c.4389C>T, XM_017019954.2:c.4314C>T, XM_017019954.1:c.4314C>T, XM_017019953.2:c.4314C>T, XM_017019953.1:c.4314C>T, XM_017019946.3:c.4392C>T, XM_017019946.2:c.4392C>T, XM_017019946.1:c.4392C>T, XM_017019950.3:c.4386C>T, XM_017019950.2:c.4386C>T, XM_017019950.1:c.4386C>T, XM_006719017.3:c.4314C>T, XM_006719017.2:c.4314C>T, XM_006719017.1:c.4314C>T, XM_047429516.1:c.4587C>T, XM_047429515.1:c.4587C>T, XM_047429518.1:c.4554C>T, XM_047429517.1:c.4554C>T, XM_047429519.1:c.4467C>T, XM_047429514.1:c.4665C>T, XM_047429513.1:c.4671C>T, XM_047429520.1:c.3387C>T

                                      19.

                                      rs1476050138 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:2691003 (GRCh38)
                                        12:2800169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:2691002:T:C
                                        Gene:
                                        CACNA1C (Varview), CACNA1C-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000009/2 (GnomAD_exomes)
                                        C=0.000019/5 (TOPMED)
                                        C=0.000071/10 (GnomAD)
                                        HGVS:
                                        NC_000012.12:g.2691003T>C, NC_000012.11:g.2800169T>C, NG_008801.2:g.725218T>C, NM_000719.7:c.6221T>C, NM_000719.6:c.6221T>C, NM_199460.4:c.6470T>C, NM_199460.3:c.6470T>C, NM_199460.2:c.6470T>C, NM_001167624.3:c.6326T>C, NM_001167624.2:c.6326T>C, NM_001167624.1:c.6326T>C, NM_001129830.3:c.6326T>C, NM_001129830.2:c.6326T>C, NM_001129830.1:c.6326T>C, NM_001167625.2:c.6401T>C, NM_001167625.1:c.6401T>C, NM_001129827.2:c.6365T>C, NM_001129827.1:c.6365T>C, NM_001129829.2:c.6344T>C, NM_001129829.1:c.6344T>C, NM_001129831.2:c.6305T>C, NM_001129831.1:c.6305T>C, NM_001129832.2:c.6281T>C, NM_001129832.1:c.6281T>C, NM_001129835.2:c.6278T>C, NM_001129835.1:c.6278T>C, NM_001129834.2:c.6278T>C, NM_001129834.1:c.6278T>C, NM_001129833.2:c.6278T>C, NM_001129833.1:c.6278T>C, NM_001129836.2:c.6272T>C, NM_001129836.1:c.6272T>C, NM_001129838.2:c.6245T>C, NM_001129838.1:c.6245T>C, NM_001129837.2:c.6245T>C, NM_001129837.1:c.6245T>C, NM_001129839.2:c.6239T>C, NM_001129839.1:c.6239T>C, NM_001167623.2:c.6221T>C, NM_001167623.1:c.6221T>C, NM_001129843.2:c.6221T>C, NM_001129843.1:c.6221T>C, NM_001129842.2:c.6221T>C, NM_001129842.1:c.6221T>C, NM_001129841.2:c.6221T>C, NM_001129841.1:c.6221T>C, NM_001129840.2:c.6221T>C, NM_001129840.1:c.6221T>C, NM_001129844.2:c.6212T>C, NM_001129844.1:c.6212T>C, NM_001129846.2:c.6188T>C, NM_001129846.1:c.6188T>C, NW_018654718.1:g.1039119T>C, XM_011521023.4:c.6296T>C, XM_011521023.3:c.6296T>C, XM_011521023.2:c.6296T>C, XM_011521023.1:c.6296T>C, XM_017019926.3:c.7043T>C, XM_017019926.2:c.7043T>C, XM_017019926.1:c.7043T>C, XM_017019927.3:c.6938T>C, XM_017019927.2:c.6938T>C, XM_017019927.1:c.6938T>C, XM_017019928.3:c.6725T>C, XM_017019928.2:c.6725T>C, XM_017019928.1:c.6725T>C, XM_017019930.3:c.6668T>C, XM_017019930.2:c.6668T>C, XM_017019930.1:c.6668T>C, XM_017019929.3:c.6668T>C, XM_017019929.2:c.6668T>C, XM_017019929.1:c.6668T>C, XM_017019931.3:c.6584T>C, XM_017019931.2:c.6584T>C, XM_017019931.1:c.6584T>C, XM_017019932.3:c.6569T>C, XM_017019932.2:c.6569T>C, XM_017019932.1:c.6569T>C, XM_017019933.3:c.6473T>C, XM_017019933.2:c.6473T>C, XM_017019933.1:c.6473T>C, XM_017019955.3:c.6464T>C, XM_017019955.2:c.6464T>C, XM_017019955.1:c.6464T>C, XM_017019935.3:c.6464T>C, XM_017019935.2:c.6464T>C, XM_017019935.1:c.6464T>C, XM_017019934.3:c.6464T>C, XM_017019934.2:c.6464T>C, XM_017019934.1:c.6464T>C, XM_017019939.3:c.6440T>C, XM_017019939.2:c.6440T>C, XM_017019939.1:c.6440T>C, XM_017019949.3:c.6389T>C, XM_017019949.2:c.6389T>C, XM_017019949.1:c.6389T>C, XM_017019948.3:c.6389T>C, XM_017019948.2:c.6389T>C, XM_017019948.1:c.6389T>C, XM_017019947.3:c.6389T>C, XM_017019947.2:c.6389T>C, XM_017019947.1:c.6389T>C, XM_017019946.3:c.6389T>C, XM_017019946.2:c.6389T>C, XM_017019946.1:c.6389T>C, XM_017019954.2:c.6311T>C, XM_017019954.1:c.6311T>C, XM_017019953.2:c.6311T>C, XM_017019953.1:c.6311T>C, XM_017019945.3:c.6389T>C, XM_017019945.2:c.6389T>C, XM_017019945.1:c.6389T>C, XM_017019944.3:c.6389T>C, XM_017019944.2:c.6389T>C, XM_017019944.1:c.6389T>C, XM_017019943.3:c.6389T>C, XM_017019943.2:c.6389T>C, XM_017019943.1:c.6389T>C, XM_011521020.3:c.6386T>C, XM_011521020.2:c.6386T>C, XM_011521020.1:c.6386T>C, XM_017019950.3:c.6383T>C, XM_017019950.2:c.6383T>C, XM_017019950.1:c.6383T>C, XM_006719017.3:c.6311T>C, XM_006719017.2:c.6311T>C, XM_006719017.1:c.6311T>C, XM_047429515.1:c.6584T>C, XM_047429518.1:c.6551T>C, XM_047429517.1:c.6551T>C, XM_047429519.1:c.6464T>C, XM_047429520.1:c.5384T>C, XM_047429513.1:c.6881T>C, XM_047429514.1:c.6662T>C, XM_047429516.1:c.6584T>C, NP_000710.5:p.Met2074Thr, NP_955630.3:p.Met2157Thr, NP_001161096.2:p.Met2109Thr, NP_001123302.2:p.Met2109Thr, NP_001161097.1:p.Met2134Thr, NP_001123299.1:p.Met2122Thr, NP_001123301.1:p.Met2115Thr, NP_001123303.1:p.Met2102Thr, NP_001123304.1:p.Met2094Thr, NP_001123307.1:p.Met2093Thr, NP_001123306.1:p.Met2093Thr, NP_001123305.1:p.Met2093Thr, NP_001123308.1:p.Met2091Thr, NP_001123310.1:p.Met2082Thr, NP_001123309.1:p.Met2082Thr, NP_001123311.1:p.Met2080Thr, NP_001161095.1:p.Met2074Thr, NP_001123315.1:p.Met2074Thr, NP_001123314.1:p.Met2074Thr, NP_001123313.1:p.Met2074Thr, NP_001123312.1:p.Met2074Thr, NP_001123316.1:p.Met2071Thr, NP_001123318.1:p.Met2063Thr, XP_011519325.1:p.Met2099Thr, XP_016875415.1:p.Met2348Thr, XP_016875416.1:p.Met2313Thr, XP_016875417.1:p.Met2242Thr, XP_016875419.1:p.Met2223Thr, XP_016875418.1:p.Met2223Thr, XP_016875420.1:p.Met2195Thr, XP_016875421.1:p.Met2190Thr, XP_016875422.1:p.Met2158Thr, XP_016875444.1:p.Met2155Thr, XP_016875424.1:p.Met2155Thr, XP_016875423.1:p.Met2155Thr, XP_016875428.1:p.Met2147Thr, XP_016875438.1:p.Met2130Thr, XP_016875437.1:p.Met2130Thr, XP_016875436.1:p.Met2130Thr, XP_016875435.1:p.Met2130Thr, XP_016875443.1:p.Met2104Thr, XP_016875442.1:p.Met2104Thr, XP_016875434.1:p.Met2130Thr, XP_016875433.1:p.Met2130Thr, XP_016875432.1:p.Met2130Thr, XP_011519322.1:p.Met2129Thr, XP_016875439.1:p.Met2128Thr, XP_006719080.1:p.Met2104Thr, XP_047285471.1:p.Met2195Thr, XP_047285474.1:p.Met2184Thr, XP_047285473.1:p.Met2184Thr, XP_047285475.1:p.Met2155Thr, XP_047285476.1:p.Met1795Thr, XP_047285469.1:p.Met2294Thr, XP_047285470.1:p.Met2221Thr, XP_047285472.1:p.Met2195Thr

                                        20.

                                        rs1474889407 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:2679771 (GRCh38)
                                          12:2788937 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:2679770:G:A
                                          Gene:
                                          CACNA1C (Varview), CACNA1C-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.2679771G>A, NC_000012.11:g.2788937G>A, NG_008801.2:g.713986G>A, NM_000719.7:c.5419G>A, NM_000719.6:c.5419G>A, NM_199460.4:c.5563G>A, NM_199460.3:c.5563G>A, NM_199460.2:c.5563G>A, NM_001167624.3:c.5419G>A, NM_001167624.2:c.5419G>A, NM_001167624.1:c.5419G>A, NM_001129830.3:c.5419G>A, NM_001129830.2:c.5419G>A, NM_001129830.1:c.5419G>A, NM_001167625.2:c.5386G>A, NM_001167625.1:c.5386G>A, NM_001129827.2:c.5563G>A, NM_001129827.1:c.5563G>A, NM_001129829.2:c.5542G>A, NM_001129829.1:c.5542G>A, NM_001129831.2:c.5503G>A, NM_001129831.1:c.5503G>A, NM_001129832.2:c.5479G>A, NM_001129832.1:c.5479G>A, NM_001129835.2:c.5476G>A, NM_001129835.1:c.5476G>A, NM_001129834.2:c.5476G>A, NM_001129834.1:c.5476G>A, NM_001129833.2:c.5476G>A, NM_001129833.1:c.5476G>A, NM_001129836.2:c.5470G>A, NM_001129836.1:c.5470G>A, NM_001129838.2:c.5443G>A, NM_001129838.1:c.5443G>A, NM_001129837.2:c.5443G>A, NM_001129837.1:c.5443G>A, NM_001129839.2:c.5437G>A, NM_001129839.1:c.5437G>A, NM_001167623.2:c.5419G>A, NM_001167623.1:c.5419G>A, NM_001129843.2:c.5419G>A, NM_001129843.1:c.5419G>A, NM_001129842.2:c.5419G>A, NM_001129842.1:c.5419G>A, NM_001129841.2:c.5419G>A, NM_001129841.1:c.5419G>A, NM_001129840.2:c.5419G>A, NM_001129840.1:c.5419G>A, NM_001129844.2:c.5410G>A, NM_001129844.1:c.5410G>A, NM_001129846.2:c.5386G>A, NM_001129846.1:c.5386G>A, NW_018654718.1:g.1027887G>A, XM_011521023.4:c.5494G>A, XM_011521023.3:c.5494G>A, XM_011521023.2:c.5494G>A, XM_011521023.1:c.5494G>A, XM_017019926.3:c.5923G>A, XM_017019926.2:c.5923G>A, XM_017019926.1:c.5923G>A, XM_017019927.3:c.5923G>A, XM_017019927.2:c.5923G>A, XM_017019927.1:c.5923G>A, XM_017019928.3:c.5923G>A, XM_017019928.2:c.5923G>A, XM_017019928.1:c.5923G>A, XM_017019930.3:c.5866G>A, XM_017019930.2:c.5866G>A, XM_017019930.1:c.5866G>A, XM_017019929.3:c.5866G>A, XM_017019929.2:c.5866G>A, XM_017019929.1:c.5866G>A, XM_017019931.3:c.5782G>A, XM_017019931.2:c.5782G>A, XM_017019931.1:c.5782G>A, XM_017019932.3:c.5554G>A, XM_017019932.2:c.5554G>A, XM_017019932.1:c.5554G>A, XM_017019933.3:c.5671G>A, XM_017019933.2:c.5671G>A, XM_017019933.1:c.5671G>A, XM_017019955.3:c.5662G>A, XM_017019955.2:c.5662G>A, XM_017019955.1:c.5662G>A, XM_017019935.3:c.5662G>A, XM_017019935.2:c.5662G>A, XM_017019935.1:c.5662G>A, XM_017019934.3:c.5662G>A, XM_017019934.2:c.5662G>A, XM_017019934.1:c.5662G>A, XM_017019939.3:c.5638G>A, XM_017019939.2:c.5638G>A, XM_017019939.1:c.5638G>A, XM_017019949.3:c.5587G>A, XM_017019949.2:c.5587G>A, XM_017019949.1:c.5587G>A, XM_017019948.3:c.5587G>A, XM_017019948.2:c.5587G>A, XM_017019948.1:c.5587G>A, XM_017019947.3:c.5587G>A, XM_017019947.2:c.5587G>A, XM_017019947.1:c.5587G>A, XM_017019946.3:c.5587G>A, XM_017019946.2:c.5587G>A, XM_017019946.1:c.5587G>A, XM_017019954.2:c.5509G>A, XM_017019954.1:c.5509G>A, XM_017019953.2:c.5509G>A, XM_017019953.1:c.5509G>A, XM_017019945.3:c.5587G>A, XM_017019945.2:c.5587G>A, XM_017019945.1:c.5587G>A, XM_017019944.3:c.5587G>A, XM_017019944.2:c.5587G>A, XM_017019944.1:c.5587G>A, XM_017019943.3:c.5587G>A, XM_017019943.2:c.5587G>A, XM_017019943.1:c.5587G>A, XM_011521020.3:c.5584G>A, XM_011521020.2:c.5584G>A, XM_011521020.1:c.5584G>A, XM_017019950.3:c.5581G>A, XM_017019950.2:c.5581G>A, XM_017019950.1:c.5581G>A, XM_006719017.3:c.5509G>A, XM_006719017.2:c.5509G>A, XM_006719017.1:c.5509G>A, XM_047429515.1:c.5782G>A, XM_047429518.1:c.5749G>A, XM_047429517.1:c.5749G>A, XM_047429519.1:c.5662G>A, XM_047429520.1:c.4582G>A, XM_047429513.1:c.5866G>A, XM_047429514.1:c.5860G>A, XM_047429516.1:c.5782G>A, NP_000710.5:p.Val1807Met, NP_955630.3:p.Val1855Met, NP_001161096.2:p.Val1807Met, NP_001123302.2:p.Val1807Met, NP_001161097.1:p.Val1796Met, NP_001123299.1:p.Val1855Met, NP_001123301.1:p.Val1848Met, NP_001123303.1:p.Val1835Met, NP_001123304.1:p.Val1827Met, NP_001123307.1:p.Val1826Met, NP_001123306.1:p.Val1826Met, NP_001123305.1:p.Val1826Met, NP_001123308.1:p.Val1824Met, NP_001123310.1:p.Val1815Met, NP_001123309.1:p.Val1815Met, NP_001123311.1:p.Val1813Met, NP_001161095.1:p.Val1807Met, NP_001123315.1:p.Val1807Met, NP_001123314.1:p.Val1807Met, NP_001123313.1:p.Val1807Met, NP_001123312.1:p.Val1807Met, NP_001123316.1:p.Val1804Met, NP_001123318.1:p.Val1796Met, XP_011519325.1:p.Val1832Met, XP_016875415.1:p.Val1975Met, XP_016875416.1:p.Val1975Met, XP_016875417.1:p.Val1975Met, XP_016875419.1:p.Val1956Met, XP_016875418.1:p.Val1956Met, XP_016875420.1:p.Val1928Met, XP_016875421.1:p.Val1852Met, XP_016875422.1:p.Val1891Met, XP_016875444.1:p.Val1888Met, XP_016875424.1:p.Val1888Met, XP_016875423.1:p.Val1888Met, XP_016875428.1:p.Val1880Met, XP_016875438.1:p.Val1863Met, XP_016875437.1:p.Val1863Met, XP_016875436.1:p.Val1863Met, XP_016875435.1:p.Val1863Met, XP_016875443.1:p.Val1837Met, XP_016875442.1:p.Val1837Met, XP_016875434.1:p.Val1863Met, XP_016875433.1:p.Val1863Met, XP_016875432.1:p.Val1863Met, XP_011519322.1:p.Val1862Met, XP_016875439.1:p.Val1861Met, XP_006719080.1:p.Val1837Met, XP_047285471.1:p.Val1928Met, XP_047285474.1:p.Val1917Met, XP_047285473.1:p.Val1917Met, XP_047285475.1:p.Val1888Met, XP_047285476.1:p.Val1528Met, XP_047285469.1:p.Val1956Met, XP_047285470.1:p.Val1954Met, XP_047285472.1:p.Val1928Met

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