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Items: 1 to 20 of 818

1.

rs1491365721 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    13:101721858 (GRCh38)
    13:102374208 (GRCh37)
    Canonical SPDI:
    NC_000013.11:101721857:CT:
    Gene:
    FGF14 (Varview), ITGBL1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000008/1 (GnomAD)
    HGVS:
    NC_000013.11:g.101721858_101721859del, NC_000013.10:g.102374208_102374209del, NG_008317.2:g.684916_684917del, NM_175929.2:c.*972_*973del, NM_175929.3:c.*972_*973del, NM_001321949.1:c.*972_*973del, NM_001321944.1:c.*972_*973del, NM_001321940.1:c.*972_*973del, NM_001321943.1:c.*972_*973del, NM_001321942.1:c.*972_*973del, NM_001321932.1:c.*972_*973del, NM_001321931.1:c.*972_*973del, NM_001321933.1:c.*972_*973del, NM_001321936.1:c.*972_*973del, NM_001321934.1:c.*972_*973del, NM_001321935.1:c.*972_*973del, NM_004115.4:c.*972_*973del, NM_004115.3:c.*972_*973del, NM_001321938.2:c.*972_*973del, NM_001321938.1:c.*972_*973del, NM_001321941.2:c.*972_*973del, NM_001321941.1:c.*972_*973del, NM_001321946.2:c.*972_*973del, NM_001321946.1:c.*972_*973del, NM_001321939.2:c.*972_*973del, NM_001321939.1:c.*972_*973del, NM_001321945.2:c.*972_*973del, NM_001321945.1:c.*972_*973del, NM_001321948.2:c.*972_*973del, NM_001321948.1:c.*972_*973del, NM_001321947.2:c.*972_*973del, NM_001321947.1:c.*972_*973del, NM_001379342.1:c.*972_*973del

    2.

    rs1491159713 has merged into rs34628929 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      13:101721865 (GRCh38)
      13:102374215 (GRCh37)
      Canonical SPDI:
      NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:101721858:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      FGF14 (Varview), ITGBL1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
      Clinical significance:
      benign,uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTT=0./0 (ALFA)
      T=0.35703/1788 (1000Genomes)
      T=0.425/17 (GENOME_DK)
      T=0.42961/1593 (TWINSUK)
      T=0.43513/1677 (ALSPAC)
      HGVS:
      NC_000013.11:g.101721865_101721871del, NC_000013.11:g.101721866_101721871del, NC_000013.11:g.101721868_101721871del, NC_000013.11:g.101721870_101721871del, NC_000013.11:g.101721871del, NC_000013.11:g.101721871dup, NC_000013.11:g.101721870_101721871dup, NC_000013.11:g.101721869_101721871dup, NC_000013.11:g.101721868_101721871dup, NC_000013.11:g.101721867_101721871dup, NC_000013.11:g.101721866_101721871dup, NC_000013.11:g.101721871_101721872insTTTTTTTTTTTTTTT, NC_000013.10:g.102374215_102374221del, NC_000013.10:g.102374216_102374221del, NC_000013.10:g.102374218_102374221del, NC_000013.10:g.102374220_102374221del, NC_000013.10:g.102374221del, NC_000013.10:g.102374221dup, NC_000013.10:g.102374220_102374221dup, NC_000013.10:g.102374219_102374221dup, NC_000013.10:g.102374218_102374221dup, NC_000013.10:g.102374217_102374221dup, NC_000013.10:g.102374216_102374221dup, NC_000013.10:g.102374221_102374222insTTTTTTTTTTTTTTT, NG_008317.2:g.684910_684916del, NG_008317.2:g.684911_684916del, NG_008317.2:g.684913_684916del, NG_008317.2:g.684915_684916del, NG_008317.2:g.684916del, NG_008317.2:g.684916dup, NG_008317.2:g.684915_684916dup, NG_008317.2:g.684914_684916dup, NG_008317.2:g.684913_684916dup, NG_008317.2:g.684912_684916dup, NG_008317.2:g.684911_684916dup, NG_008317.2:g.684916_684917insAAAAAAAAAAAAAAA, NM_175929.2:c.*966_*972del, NM_175929.2:c.*967_*972del, NM_175929.2:c.*969_*972del, NM_175929.2:c.*971_*972del, NM_175929.2:c.*972del, NM_175929.2:c.*972dup, NM_175929.2:c.*971_*972dup, NM_175929.2:c.*970_*972dup, NM_175929.2:c.*969_*972dup, NM_175929.2:c.*968_*972dup, NM_175929.2:c.*967_*972dup, NM_175929.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_175929.3:c.*966_*972del, NM_175929.3:c.*967_*972del, NM_175929.3:c.*969_*972del, NM_175929.3:c.*971_*972del, NM_175929.3:c.*972del, NM_175929.3:c.*972dup, NM_175929.3:c.*971_*972dup, NM_175929.3:c.*970_*972dup, NM_175929.3:c.*969_*972dup, NM_175929.3:c.*968_*972dup, NM_175929.3:c.*967_*972dup, NM_175929.3:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321949.1:c.*966_*972del, NM_001321949.1:c.*967_*972del, NM_001321949.1:c.*969_*972del, NM_001321949.1:c.*971_*972del, NM_001321949.1:c.*972del, NM_001321949.1:c.*972dup, NM_001321949.1:c.*971_*972dup, NM_001321949.1:c.*970_*972dup, NM_001321949.1:c.*969_*972dup, NM_001321949.1:c.*968_*972dup, NM_001321949.1:c.*967_*972dup, NM_001321949.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321944.1:c.*966_*972del, NM_001321944.1:c.*967_*972del, NM_001321944.1:c.*969_*972del, NM_001321944.1:c.*971_*972del, NM_001321944.1:c.*972del, NM_001321944.1:c.*972dup, NM_001321944.1:c.*971_*972dup, NM_001321944.1:c.*970_*972dup, NM_001321944.1:c.*969_*972dup, NM_001321944.1:c.*968_*972dup, NM_001321944.1:c.*967_*972dup, NM_001321944.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321940.1:c.*966_*972del, NM_001321940.1:c.*967_*972del, NM_001321940.1:c.*969_*972del, NM_001321940.1:c.*971_*972del, NM_001321940.1:c.*972del, NM_001321940.1:c.*972dup, NM_001321940.1:c.*971_*972dup, NM_001321940.1:c.*970_*972dup, NM_001321940.1:c.*969_*972dup, NM_001321940.1:c.*968_*972dup, NM_001321940.1:c.*967_*972dup, NM_001321940.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321943.1:c.*966_*972del, NM_001321943.1:c.*967_*972del, NM_001321943.1:c.*969_*972del, NM_001321943.1:c.*971_*972del, NM_001321943.1:c.*972del, NM_001321943.1:c.*972dup, NM_001321943.1:c.*971_*972dup, NM_001321943.1:c.*970_*972dup, NM_001321943.1:c.*969_*972dup, NM_001321943.1:c.*968_*972dup, NM_001321943.1:c.*967_*972dup, NM_001321943.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321942.1:c.*966_*972del, NM_001321942.1:c.*967_*972del, NM_001321942.1:c.*969_*972del, NM_001321942.1:c.*971_*972del, NM_001321942.1:c.*972del, NM_001321942.1:c.*972dup, NM_001321942.1:c.*971_*972dup, NM_001321942.1:c.*970_*972dup, NM_001321942.1:c.*969_*972dup, NM_001321942.1:c.*968_*972dup, NM_001321942.1:c.*967_*972dup, NM_001321942.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321932.1:c.*966_*972del, NM_001321932.1:c.*967_*972del, NM_001321932.1:c.*969_*972del, NM_001321932.1:c.*971_*972del, NM_001321932.1:c.*972del, NM_001321932.1:c.*972dup, NM_001321932.1:c.*971_*972dup, NM_001321932.1:c.*970_*972dup, NM_001321932.1:c.*969_*972dup, NM_001321932.1:c.*968_*972dup, NM_001321932.1:c.*967_*972dup, NM_001321932.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321931.1:c.*966_*972del, NM_001321931.1:c.*967_*972del, NM_001321931.1:c.*969_*972del, NM_001321931.1:c.*971_*972del, NM_001321931.1:c.*972del, NM_001321931.1:c.*972dup, NM_001321931.1:c.*971_*972dup, NM_001321931.1:c.*970_*972dup, NM_001321931.1:c.*969_*972dup, NM_001321931.1:c.*968_*972dup, NM_001321931.1:c.*967_*972dup, NM_001321931.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321933.1:c.*966_*972del, NM_001321933.1:c.*967_*972del, NM_001321933.1:c.*969_*972del, NM_001321933.1:c.*971_*972del, NM_001321933.1:c.*972del, NM_001321933.1:c.*972dup, NM_001321933.1:c.*971_*972dup, NM_001321933.1:c.*970_*972dup, NM_001321933.1:c.*969_*972dup, NM_001321933.1:c.*968_*972dup, NM_001321933.1:c.*967_*972dup, NM_001321933.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321936.1:c.*966_*972del, NM_001321936.1:c.*967_*972del, NM_001321936.1:c.*969_*972del, NM_001321936.1:c.*971_*972del, NM_001321936.1:c.*972del, NM_001321936.1:c.*972dup, NM_001321936.1:c.*971_*972dup, NM_001321936.1:c.*970_*972dup, NM_001321936.1:c.*969_*972dup, NM_001321936.1:c.*968_*972dup, NM_001321936.1:c.*967_*972dup, NM_001321936.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321934.1:c.*966_*972del, NM_001321934.1:c.*967_*972del, NM_001321934.1:c.*969_*972del, NM_001321934.1:c.*971_*972del, NM_001321934.1:c.*972del, NM_001321934.1:c.*972dup, NM_001321934.1:c.*971_*972dup, NM_001321934.1:c.*970_*972dup, NM_001321934.1:c.*969_*972dup, NM_001321934.1:c.*968_*972dup, NM_001321934.1:c.*967_*972dup, NM_001321934.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321935.1:c.*966_*972del, NM_001321935.1:c.*967_*972del, NM_001321935.1:c.*969_*972del, NM_001321935.1:c.*971_*972del, NM_001321935.1:c.*972del, NM_001321935.1:c.*972dup, NM_001321935.1:c.*971_*972dup, NM_001321935.1:c.*970_*972dup, NM_001321935.1:c.*969_*972dup, NM_001321935.1:c.*968_*972dup, NM_001321935.1:c.*967_*972dup, NM_001321935.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_004115.4:c.*966_*972del, NM_004115.4:c.*967_*972del, NM_004115.4:c.*969_*972del, NM_004115.4:c.*971_*972del, NM_004115.4:c.*972del, NM_004115.4:c.*972dup, NM_004115.4:c.*971_*972dup, NM_004115.4:c.*970_*972dup, NM_004115.4:c.*969_*972dup, NM_004115.4:c.*968_*972dup, NM_004115.4:c.*967_*972dup, NM_004115.4:c.*972_*973insAAAAAAAAAAAAAAA, NM_004115.3:c.*966_*972del, NM_004115.3:c.*967_*972del, NM_004115.3:c.*969_*972del, NM_004115.3:c.*971_*972del, NM_004115.3:c.*972del, NM_004115.3:c.*972dup, NM_004115.3:c.*971_*972dup, NM_004115.3:c.*970_*972dup, NM_004115.3:c.*969_*972dup, NM_004115.3:c.*968_*972dup, NM_004115.3:c.*967_*972dup, NM_004115.3:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321938.2:c.*966_*972del, NM_001321938.2:c.*967_*972del, NM_001321938.2:c.*969_*972del, NM_001321938.2:c.*971_*972del, NM_001321938.2:c.*972del, NM_001321938.2:c.*972dup, NM_001321938.2:c.*971_*972dup, NM_001321938.2:c.*970_*972dup, NM_001321938.2:c.*969_*972dup, NM_001321938.2:c.*968_*972dup, NM_001321938.2:c.*967_*972dup, NM_001321938.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321938.1:c.*966_*972del, NM_001321938.1:c.*967_*972del, NM_001321938.1:c.*969_*972del, NM_001321938.1:c.*971_*972del, NM_001321938.1:c.*972del, NM_001321938.1:c.*972dup, NM_001321938.1:c.*971_*972dup, NM_001321938.1:c.*970_*972dup, NM_001321938.1:c.*969_*972dup, NM_001321938.1:c.*968_*972dup, NM_001321938.1:c.*967_*972dup, NM_001321938.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321941.2:c.*966_*972del, NM_001321941.2:c.*967_*972del, NM_001321941.2:c.*969_*972del, NM_001321941.2:c.*971_*972del, NM_001321941.2:c.*972del, NM_001321941.2:c.*972dup, NM_001321941.2:c.*971_*972dup, NM_001321941.2:c.*970_*972dup, NM_001321941.2:c.*969_*972dup, NM_001321941.2:c.*968_*972dup, NM_001321941.2:c.*967_*972dup, NM_001321941.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321941.1:c.*966_*972del, NM_001321941.1:c.*967_*972del, NM_001321941.1:c.*969_*972del, NM_001321941.1:c.*971_*972del, NM_001321941.1:c.*972del, NM_001321941.1:c.*972dup, NM_001321941.1:c.*971_*972dup, NM_001321941.1:c.*970_*972dup, NM_001321941.1:c.*969_*972dup, NM_001321941.1:c.*968_*972dup, NM_001321941.1:c.*967_*972dup, NM_001321941.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321946.2:c.*966_*972del, NM_001321946.2:c.*967_*972del, NM_001321946.2:c.*969_*972del, NM_001321946.2:c.*971_*972del, NM_001321946.2:c.*972del, NM_001321946.2:c.*972dup, NM_001321946.2:c.*971_*972dup, NM_001321946.2:c.*970_*972dup, NM_001321946.2:c.*969_*972dup, NM_001321946.2:c.*968_*972dup, NM_001321946.2:c.*967_*972dup, NM_001321946.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321946.1:c.*966_*972del, NM_001321946.1:c.*967_*972del, NM_001321946.1:c.*969_*972del, NM_001321946.1:c.*971_*972del, NM_001321946.1:c.*972del, NM_001321946.1:c.*972dup, NM_001321946.1:c.*971_*972dup, NM_001321946.1:c.*970_*972dup, NM_001321946.1:c.*969_*972dup, NM_001321946.1:c.*968_*972dup, NM_001321946.1:c.*967_*972dup, NM_001321946.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321939.2:c.*966_*972del, NM_001321939.2:c.*967_*972del, NM_001321939.2:c.*969_*972del, NM_001321939.2:c.*971_*972del, NM_001321939.2:c.*972del, NM_001321939.2:c.*972dup, NM_001321939.2:c.*971_*972dup, NM_001321939.2:c.*970_*972dup, NM_001321939.2:c.*969_*972dup, NM_001321939.2:c.*968_*972dup, NM_001321939.2:c.*967_*972dup, NM_001321939.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321939.1:c.*966_*972del, NM_001321939.1:c.*967_*972del, NM_001321939.1:c.*969_*972del, NM_001321939.1:c.*971_*972del, NM_001321939.1:c.*972del, NM_001321939.1:c.*972dup, NM_001321939.1:c.*971_*972dup, NM_001321939.1:c.*970_*972dup, NM_001321939.1:c.*969_*972dup, NM_001321939.1:c.*968_*972dup, NM_001321939.1:c.*967_*972dup, NM_001321939.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321945.2:c.*966_*972del, NM_001321945.2:c.*967_*972del, NM_001321945.2:c.*969_*972del, NM_001321945.2:c.*971_*972del, NM_001321945.2:c.*972del, NM_001321945.2:c.*972dup, NM_001321945.2:c.*971_*972dup, NM_001321945.2:c.*970_*972dup, NM_001321945.2:c.*969_*972dup, NM_001321945.2:c.*968_*972dup, NM_001321945.2:c.*967_*972dup, NM_001321945.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321945.1:c.*966_*972del, NM_001321945.1:c.*967_*972del, NM_001321945.1:c.*969_*972del, NM_001321945.1:c.*971_*972del, NM_001321945.1:c.*972del, NM_001321945.1:c.*972dup, NM_001321945.1:c.*971_*972dup, NM_001321945.1:c.*970_*972dup, NM_001321945.1:c.*969_*972dup, NM_001321945.1:c.*968_*972dup, NM_001321945.1:c.*967_*972dup, NM_001321945.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321948.2:c.*966_*972del, NM_001321948.2:c.*967_*972del, NM_001321948.2:c.*969_*972del, NM_001321948.2:c.*971_*972del, NM_001321948.2:c.*972del, NM_001321948.2:c.*972dup, NM_001321948.2:c.*971_*972dup, NM_001321948.2:c.*970_*972dup, NM_001321948.2:c.*969_*972dup, NM_001321948.2:c.*968_*972dup, NM_001321948.2:c.*967_*972dup, NM_001321948.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321948.1:c.*966_*972del, NM_001321948.1:c.*967_*972del, NM_001321948.1:c.*969_*972del, NM_001321948.1:c.*971_*972del, NM_001321948.1:c.*972del, NM_001321948.1:c.*972dup, NM_001321948.1:c.*971_*972dup, NM_001321948.1:c.*970_*972dup, NM_001321948.1:c.*969_*972dup, NM_001321948.1:c.*968_*972dup, NM_001321948.1:c.*967_*972dup, NM_001321948.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321947.2:c.*966_*972del, NM_001321947.2:c.*967_*972del, NM_001321947.2:c.*969_*972del, NM_001321947.2:c.*971_*972del, NM_001321947.2:c.*972del, NM_001321947.2:c.*972dup, NM_001321947.2:c.*971_*972dup, NM_001321947.2:c.*970_*972dup, NM_001321947.2:c.*969_*972dup, NM_001321947.2:c.*968_*972dup, NM_001321947.2:c.*967_*972dup, NM_001321947.2:c.*972_*973insAAAAAAAAAAAAAAA, NM_001321947.1:c.*966_*972del, NM_001321947.1:c.*967_*972del, NM_001321947.1:c.*969_*972del, NM_001321947.1:c.*971_*972del, NM_001321947.1:c.*972del, NM_001321947.1:c.*972dup, NM_001321947.1:c.*971_*972dup, NM_001321947.1:c.*970_*972dup, NM_001321947.1:c.*969_*972dup, NM_001321947.1:c.*968_*972dup, NM_001321947.1:c.*967_*972dup, NM_001321947.1:c.*972_*973insAAAAAAAAAAAAAAA, NM_001379342.1:c.*966_*972del, NM_001379342.1:c.*967_*972del, NM_001379342.1:c.*969_*972del, NM_001379342.1:c.*971_*972del, NM_001379342.1:c.*972del, NM_001379342.1:c.*972dup, NM_001379342.1:c.*971_*972dup, NM_001379342.1:c.*970_*972dup, NM_001379342.1:c.*969_*972dup, NM_001379342.1:c.*968_*972dup, NM_001379342.1:c.*967_*972dup, NM_001379342.1:c.*972_*973insAAAAAAAAAAAAAAA

      3.

      rs1490928779 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        13:102310602 (GRCh38)
        13:102962952 (GRCh37)
        Canonical SPDI:
        NC_000013.11:102310601:G:A
        Gene:
        FGF14 (Varview), FGF14-IT1 (Varview), LOC107984615 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1490881067 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:101721606 (GRCh38)
          13:102373956 (GRCh37)
          Canonical SPDI:
          NC_000013.11:101721605:C:T
          Gene:
          FGF14 (Varview), ITGBL1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000013.11:g.101721606C>T, NC_000013.10:g.102373956C>T, NG_008317.2:g.685169G>A, NM_175929.2:c.*1225G>A, NM_175929.3:c.*1225G>A, NM_001321949.1:c.*1225G>A, NM_001321944.1:c.*1225G>A, NM_001321940.1:c.*1225G>A, NM_001321943.1:c.*1225G>A, NM_001321942.1:c.*1225G>A, NM_001321932.1:c.*1225G>A, NM_001321931.1:c.*1225G>A, NM_001321933.1:c.*1225G>A, NM_001321936.1:c.*1225G>A, NM_001321934.1:c.*1225G>A, NM_001321935.1:c.*1225G>A, NM_004115.4:c.*1225G>A, NM_004115.3:c.*1225G>A, NM_001321938.2:c.*1225G>A, NM_001321938.1:c.*1225G>A, NM_001321941.2:c.*1225G>A, NM_001321941.1:c.*1225G>A, NM_001321946.2:c.*1225G>A, NM_001321946.1:c.*1225G>A, NM_001321939.2:c.*1225G>A, NM_001321939.1:c.*1225G>A, NM_001321945.2:c.*1225G>A, NM_001321945.1:c.*1225G>A, NM_001321948.2:c.*1225G>A, NM_001321948.1:c.*1225G>A, NM_001321947.2:c.*1225G>A, NM_001321947.1:c.*1225G>A, NM_001379342.1:c.*1225G>A

          5.

          rs1490381295 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            13:101721292 (GRCh38)
            13:102373642 (GRCh37)
            Canonical SPDI:
            NC_000013.11:101721291:T:G
            Gene:
            FGF14 (Varview), ITGBL1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000013.11:g.101721292T>G, NC_000013.10:g.102373642T>G, NG_008317.2:g.685483A>C, NM_175929.2:c.*1539A>C, NM_175929.3:c.*1539A>C, NM_001321949.1:c.*1539A>C, NM_001321944.1:c.*1539A>C, NM_001321940.1:c.*1539A>C, NM_001321943.1:c.*1539A>C, NM_001321942.1:c.*1539A>C, NM_001321932.1:c.*1539A>C, NM_001321931.1:c.*1539A>C, NM_001321933.1:c.*1539A>C, NM_001321936.1:c.*1539A>C, NM_001321934.1:c.*1539A>C, NM_001321935.1:c.*1539A>C, NM_004115.4:c.*1539A>C, NM_004115.3:c.*1539A>C, NM_001321938.2:c.*1539A>C, NM_001321938.1:c.*1539A>C, NM_001321941.2:c.*1539A>C, NM_001321941.1:c.*1539A>C, NM_001321946.2:c.*1539A>C, NM_001321946.1:c.*1539A>C, NM_001321939.2:c.*1539A>C, NM_001321939.1:c.*1539A>C, NM_001321945.2:c.*1539A>C, NM_001321945.1:c.*1539A>C, NM_001321948.2:c.*1539A>C, NM_001321948.1:c.*1539A>C, NM_001321947.2:c.*1539A>C, NM_001321947.1:c.*1539A>C, NM_001379342.1:c.*1539A>C

            6.

            rs1490073656 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              13:101722646 (GRCh38)
              13:102374996 (GRCh37)
              Canonical SPDI:
              NC_000013.11:101722645:T:G
              Gene:
              FGF14 (Varview), ITGBL1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              G=0.000029/4 (GnomAD)
              HGVS:
              NC_000013.11:g.101722646T>G, NC_000013.10:g.102374996T>G, NG_008317.2:g.684129A>C, NM_175929.2:c.*185A>C, NM_175929.3:c.*185A>C, NM_001321949.1:c.*185A>C, NM_001321944.1:c.*185A>C, NM_001321940.1:c.*185A>C, NM_001321943.1:c.*185A>C, NM_001321942.1:c.*185A>C, NM_001321932.1:c.*185A>C, NM_001321931.1:c.*185A>C, NM_001321933.1:c.*185A>C, NM_001321936.1:c.*185A>C, NM_001321934.1:c.*185A>C, NM_001321935.1:c.*185A>C, NM_004115.4:c.*185A>C, NM_004115.3:c.*185A>C, NM_001321938.2:c.*185A>C, NM_001321938.1:c.*185A>C, NM_001321941.2:c.*185A>C, NM_001321941.1:c.*185A>C, NM_001321946.2:c.*185A>C, NM_001321946.1:c.*185A>C, NM_001321939.2:c.*185A>C, NM_001321939.1:c.*185A>C, NM_001321945.2:c.*185A>C, NM_001321945.1:c.*185A>C, NM_001321948.2:c.*185A>C, NM_001321948.1:c.*185A>C, NM_001321947.2:c.*185A>C, NM_001321947.1:c.*185A>C, NM_001379342.1:c.*185A>C

              7.

              rs1489523800 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:102193340 (GRCh38)
                13:102845690 (GRCh37)
                Canonical SPDI:
                NC_000013.11:102193339:A:G
                Gene:
                FGF14 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1488715915 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  13:101722732 (GRCh38)
                  13:102375082 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:101722731:T:C,NC_000013.11:101722731:T:G
                  Gene:
                  FGF14 (Varview), ITGBL1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000013.11:g.101722732T>C, NC_000013.11:g.101722732T>G, NC_000013.10:g.102375082T>C, NC_000013.10:g.102375082T>G, NG_008317.2:g.684043A>G, NG_008317.2:g.684043A>C, NM_175929.2:c.*99A>G, NM_175929.2:c.*99A>C, NM_175929.3:c.*99A>G, NM_175929.3:c.*99A>C, NM_001321949.1:c.*99A>G, NM_001321949.1:c.*99A>C, NM_001321944.1:c.*99A>G, NM_001321944.1:c.*99A>C, NM_001321940.1:c.*99A>G, NM_001321940.1:c.*99A>C, NM_001321943.1:c.*99A>G, NM_001321943.1:c.*99A>C, NM_001321942.1:c.*99A>G, NM_001321942.1:c.*99A>C, NM_001321932.1:c.*99A>G, NM_001321932.1:c.*99A>C, NM_001321931.1:c.*99A>G, NM_001321931.1:c.*99A>C, NM_001321933.1:c.*99A>G, NM_001321933.1:c.*99A>C, NM_001321936.1:c.*99A>G, NM_001321936.1:c.*99A>C, NM_001321934.1:c.*99A>G, NM_001321934.1:c.*99A>C, NM_001321935.1:c.*99A>G, NM_001321935.1:c.*99A>C, NM_004115.4:c.*99A>G, NM_004115.4:c.*99A>C, NM_004115.3:c.*99A>G, NM_004115.3:c.*99A>C, NM_001321938.2:c.*99A>G, NM_001321938.2:c.*99A>C, NM_001321938.1:c.*99A>G, NM_001321938.1:c.*99A>C, NM_001321941.2:c.*99A>G, NM_001321941.2:c.*99A>C, NM_001321941.1:c.*99A>G, NM_001321941.1:c.*99A>C, NM_001321946.2:c.*99A>G, NM_001321946.2:c.*99A>C, NM_001321946.1:c.*99A>G, NM_001321946.1:c.*99A>C, NM_001321939.2:c.*99A>G, NM_001321939.2:c.*99A>C, NM_001321939.1:c.*99A>G, NM_001321939.1:c.*99A>C, NM_001321945.2:c.*99A>G, NM_001321945.2:c.*99A>C, NM_001321945.1:c.*99A>G, NM_001321945.1:c.*99A>C, NM_001321948.2:c.*99A>G, NM_001321948.2:c.*99A>C, NM_001321948.1:c.*99A>G, NM_001321948.1:c.*99A>C, NM_001321947.2:c.*99A>G, NM_001321947.2:c.*99A>C, NM_001321947.1:c.*99A>G, NM_001321947.1:c.*99A>C, NM_001379342.1:c.*99A>G, NM_001379342.1:c.*99A>C

                  9.

                  rs1487910666 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:101721873 (GRCh38)
                    13:102374223 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:101721872:C:T
                    Gene:
                    FGF14 (Varview), ITGBL1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000013.11:g.101721873C>T, NC_000013.10:g.102374223C>T, NG_008317.2:g.684902G>A, NM_175929.2:c.*958G>A, NM_175929.3:c.*958G>A, NM_001321949.1:c.*958G>A, NM_001321944.1:c.*958G>A, NM_001321940.1:c.*958G>A, NM_001321943.1:c.*958G>A, NM_001321942.1:c.*958G>A, NM_001321932.1:c.*958G>A, NM_001321931.1:c.*958G>A, NM_001321933.1:c.*958G>A, NM_001321936.1:c.*958G>A, NM_001321934.1:c.*958G>A, NM_001321935.1:c.*958G>A, NM_004115.4:c.*958G>A, NM_004115.3:c.*958G>A, NM_001321938.2:c.*958G>A, NM_001321938.1:c.*958G>A, NM_001321941.2:c.*958G>A, NM_001321941.1:c.*958G>A, NM_001321946.2:c.*958G>A, NM_001321946.1:c.*958G>A, NM_001321939.2:c.*958G>A, NM_001321939.1:c.*958G>A, NM_001321945.2:c.*958G>A, NM_001321945.1:c.*958G>A, NM_001321948.2:c.*958G>A, NM_001321948.1:c.*958G>A, NM_001321947.2:c.*958G>A, NM_001321947.1:c.*958G>A, NM_001379342.1:c.*958G>A

                    10.

                    rs1483635369 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GTCACAG>- [Show Flanks]
                      Chromosome:
                      13:101722332 (GRCh38)
                      13:102374682 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:101722329:AGGTCACAG:AG
                      Gene:
                      FGF14 (Varview), ITGBL1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AG=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000013.11:g.101722332_101722338del, NC_000013.10:g.102374682_102374688del, NG_008317.2:g.684439_684445del, NM_175929.2:c.*495_*501del, NM_175929.3:c.*495_*501del, NM_001321949.1:c.*495_*501del, NM_001321944.1:c.*495_*501del, NM_001321940.1:c.*495_*501del, NM_001321943.1:c.*495_*501del, NM_001321942.1:c.*495_*501del, NM_001321932.1:c.*495_*501del, NM_001321931.1:c.*495_*501del, NM_001321933.1:c.*495_*501del, NM_001321936.1:c.*495_*501del, NM_001321934.1:c.*495_*501del, NM_001321935.1:c.*495_*501del, NM_004115.4:c.*495_*501del, NM_004115.3:c.*495_*501del, NM_001321938.2:c.*495_*501del, NM_001321938.1:c.*495_*501del, NM_001321941.2:c.*495_*501del, NM_001321941.1:c.*495_*501del, NM_001321946.2:c.*495_*501del, NM_001321946.1:c.*495_*501del, NM_001321939.2:c.*495_*501del, NM_001321939.1:c.*495_*501del, NM_001321945.2:c.*495_*501del, NM_001321945.1:c.*495_*501del, NM_001321948.2:c.*495_*501del, NM_001321948.1:c.*495_*501del, NM_001321947.2:c.*495_*501del, NM_001321947.1:c.*495_*501del, NM_001379342.1:c.*495_*501del

                      11.

                      rs1483064145 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:101721035 (GRCh38)
                        13:102373385 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:101721034:T:C
                        Gene:
                        FGF14 (Varview), ITGBL1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000013.11:g.101721035T>C, NC_000013.10:g.102373385T>C, NG_008317.2:g.685740A>G, NM_175929.2:c.*1796A>G, NM_175929.3:c.*1796A>G, NM_001321949.1:c.*1796A>G, NM_001321944.1:c.*1796A>G, NM_001321940.1:c.*1796A>G, NM_001321943.1:c.*1796A>G, NM_001321942.1:c.*1796A>G, NM_001321932.1:c.*1796A>G, NM_001321931.1:c.*1796A>G, NM_001321933.1:c.*1796A>G, NM_001321936.1:c.*1796A>G, NM_001321934.1:c.*1796A>G, NM_001321935.1:c.*1796A>G, NM_004115.4:c.*1796A>G, NM_004115.3:c.*1796A>G, NM_001321938.2:c.*1796A>G, NM_001321938.1:c.*1796A>G, NM_001321941.2:c.*1796A>G, NM_001321941.1:c.*1796A>G, NM_001321946.2:c.*1796A>G, NM_001321946.1:c.*1796A>G, NM_001321939.2:c.*1796A>G, NM_001321939.1:c.*1796A>G, NM_001321945.2:c.*1796A>G, NM_001321945.1:c.*1796A>G, NM_001321948.2:c.*1796A>G, NM_001321948.1:c.*1796A>G, NM_001321947.2:c.*1796A>G, NM_001321947.1:c.*1796A>G, NM_001379342.1:c.*1796A>G

                        12.

                        rs1482210451 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AACG [Show Flanks]
                          Chromosome:
                          13:101721674 (GRCh38)
                          13:102374025 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:101721674:AACG:AACGAACG
                          Gene:
                          FGF14 (Varview), ITGBL1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AACGAACG=0./0 (ALFA)
                          AACG=0.000007/1 (GnomAD)
                          AACG=0.000026/7 (TOPMED)
                          AACG=0.000035/1 (TOMMO)
                          AACG=0.000156/1 (1000Genomes)
                          HGVS:
                          NC_000013.11:g.101721675_101721678dup, NC_000013.10:g.102374025_102374028dup, NG_008317.2:g.685097_685100dup, NM_175929.2:c.*1153_*1156dup, NM_175929.3:c.*1153_*1156dup, NM_001321949.1:c.*1153_*1156dup, NM_001321944.1:c.*1153_*1156dup, NM_001321940.1:c.*1153_*1156dup, NM_001321943.1:c.*1153_*1156dup, NM_001321942.1:c.*1153_*1156dup, NM_001321932.1:c.*1153_*1156dup, NM_001321931.1:c.*1153_*1156dup, NM_001321933.1:c.*1153_*1156dup, NM_001321936.1:c.*1153_*1156dup, NM_001321934.1:c.*1153_*1156dup, NM_001321935.1:c.*1153_*1156dup, NM_004115.4:c.*1153_*1156dup, NM_004115.3:c.*1153_*1156dup, NM_001321938.2:c.*1153_*1156dup, NM_001321938.1:c.*1153_*1156dup, NM_001321941.2:c.*1153_*1156dup, NM_001321941.1:c.*1153_*1156dup, NM_001321946.2:c.*1153_*1156dup, NM_001321946.1:c.*1153_*1156dup, NM_001321939.2:c.*1153_*1156dup, NM_001321939.1:c.*1153_*1156dup, NM_001321945.2:c.*1153_*1156dup, NM_001321945.1:c.*1153_*1156dup, NM_001321948.2:c.*1153_*1156dup, NM_001321948.1:c.*1153_*1156dup, NM_001321947.2:c.*1153_*1156dup, NM_001321947.1:c.*1153_*1156dup, NM_001379342.1:c.*1153_*1156dup

                          13.

                          rs1482153774 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:101720919 (GRCh38)
                            13:102373269 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:101720918:A:G
                            Gene:
                            FGF14 (Varview), ITGBL1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000013.11:g.101720919A>G, NC_000013.10:g.102373269A>G, NG_008317.2:g.685856T>C, NM_175929.2:c.*1912T>C, NM_175929.3:c.*1912T>C, NM_001321949.1:c.*1912T>C, NM_001321944.1:c.*1912T>C, NM_001321940.1:c.*1912T>C, NM_001321943.1:c.*1912T>C, NM_001321942.1:c.*1912T>C, NM_001321932.1:c.*1912T>C, NM_001321931.1:c.*1912T>C, NM_001321933.1:c.*1912T>C, NM_001321936.1:c.*1912T>C, NM_001321934.1:c.*1912T>C, NM_001321935.1:c.*1912T>C, NM_004115.4:c.*1912T>C, NM_004115.3:c.*1912T>C, NM_001321938.2:c.*1912T>C, NM_001321938.1:c.*1912T>C, NM_001321941.2:c.*1912T>C, NM_001321941.1:c.*1912T>C, NM_001321946.2:c.*1912T>C, NM_001321946.1:c.*1912T>C, NM_001321939.2:c.*1912T>C, NM_001321939.1:c.*1912T>C, NM_001321945.2:c.*1912T>C, NM_001321945.1:c.*1912T>C, NM_001321948.2:c.*1912T>C, NM_001321948.1:c.*1912T>C, NM_001321947.2:c.*1912T>C, NM_001321947.1:c.*1912T>C, NM_001379342.1:c.*1912T>C

                            14.

                            rs1481528542 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:101721978 (GRCh38)
                              13:102374328 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:101721977:G:A
                              Gene:
                              FGF14 (Varview), ITGBL1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000013.11:g.101721978G>A, NC_000013.10:g.102374328G>A, NG_008317.2:g.684797C>T, NM_175929.2:c.*853C>T, NM_175929.3:c.*853C>T, NM_001321949.1:c.*853C>T, NM_001321944.1:c.*853C>T, NM_001321940.1:c.*853C>T, NM_001321943.1:c.*853C>T, NM_001321942.1:c.*853C>T, NM_001321932.1:c.*853C>T, NM_001321931.1:c.*853C>T, NM_001321933.1:c.*853C>T, NM_001321936.1:c.*853C>T, NM_001321934.1:c.*853C>T, NM_001321935.1:c.*853C>T, NM_004115.4:c.*853C>T, NM_004115.3:c.*853C>T, NM_001321938.2:c.*853C>T, NM_001321938.1:c.*853C>T, NM_001321941.2:c.*853C>T, NM_001321941.1:c.*853C>T, NM_001321946.2:c.*853C>T, NM_001321946.1:c.*853C>T, NM_001321939.2:c.*853C>T, NM_001321939.1:c.*853C>T, NM_001321945.2:c.*853C>T, NM_001321945.1:c.*853C>T, NM_001321948.2:c.*853C>T, NM_001321948.1:c.*853C>T, NM_001321947.2:c.*853C>T, NM_001321947.1:c.*853C>T, NM_001379342.1:c.*853C>T

                              15.

                              rs1479810383 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                13:101722717 (GRCh38)
                                13:102375067 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:101722716:T:G
                                Gene:
                                FGF14 (Varview), ITGBL1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.101722717T>G, NC_000013.10:g.102375067T>G, NG_008317.2:g.684058A>C, NM_175929.2:c.*114A>C, NM_175929.3:c.*114A>C, NM_001321949.1:c.*114A>C, NM_001321944.1:c.*114A>C, NM_001321940.1:c.*114A>C, NM_001321943.1:c.*114A>C, NM_001321942.1:c.*114A>C, NM_001321932.1:c.*114A>C, NM_001321931.1:c.*114A>C, NM_001321933.1:c.*114A>C, NM_001321936.1:c.*114A>C, NM_001321934.1:c.*114A>C, NM_001321935.1:c.*114A>C, NM_004115.4:c.*114A>C, NM_004115.3:c.*114A>C, NM_001321938.2:c.*114A>C, NM_001321938.1:c.*114A>C, NM_001321941.2:c.*114A>C, NM_001321941.1:c.*114A>C, NM_001321946.2:c.*114A>C, NM_001321946.1:c.*114A>C, NM_001321939.2:c.*114A>C, NM_001321939.1:c.*114A>C, NM_001321945.2:c.*114A>C, NM_001321945.1:c.*114A>C, NM_001321948.2:c.*114A>C, NM_001321948.1:c.*114A>C, NM_001321947.2:c.*114A>C, NM_001321947.1:c.*114A>C, NM_001379342.1:c.*114A>C

                                16.

                                rs1479223179 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  ->T
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:

                                  17.

                                  rs1477272897 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    13:101875193 (GRCh38)
                                    13:102527543 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:101875192:A:G,NC_000013.11:101875192:A:T
                                    Gene:
                                    FGF14 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.101875193A>G, NC_000013.11:g.101875193A>T, NC_000013.10:g.102527543A>G, NC_000013.10:g.102527543A>T, NG_008317.2:g.531582T>C, NG_008317.2:g.531582T>A, NM_175929.2:c.312T>C, NM_175929.2:c.312T>A, NM_175929.3:c.312T>C, NM_175929.3:c.312T>A, NM_001321937.2:c.312T>C, NM_001321937.2:c.312T>A, NM_001321937.1:c.312T>C, NM_001321937.1:c.312T>A, NM_001321949.1:c.45T>C, NM_001321949.1:c.45T>A, NM_001321944.1:c.108T>C, NM_001321944.1:c.108T>A, NM_001321940.1:c.117T>C, NM_001321940.1:c.117T>A, NM_001321943.1:c.45T>C, NM_001321943.1:c.45T>A, NM_001321942.1:c.45T>C, NM_001321942.1:c.45T>A, NM_001321932.1:c.108T>C, NM_001321932.1:c.108T>A, NM_001321931.1:c.45T>C, NM_001321931.1:c.45T>A, NM_001321933.1:c.117T>C, NM_001321933.1:c.117T>A, NM_001321936.1:c.108T>C, NM_001321936.1:c.108T>A, NM_001321934.1:c.45T>C, NM_001321934.1:c.45T>A, NM_001321935.1:c.45T>C, NM_001321935.1:c.45T>A, NM_004115.4:c.297T>C, NM_004115.4:c.297T>A, NM_004115.3:c.297T>C, NM_004115.3:c.297T>A, NM_001321938.2:c.117T>C, NM_001321938.2:c.117T>A, NM_001321938.1:c.117T>C, NM_001321938.1:c.117T>A, NM_001321941.2:c.111T>C, NM_001321941.2:c.111T>A, NM_001321941.1:c.111T>C, NM_001321941.1:c.111T>A, NM_001321946.2:c.45T>C, NM_001321946.2:c.45T>A, NM_001321946.1:c.45T>C, NM_001321946.1:c.45T>A, NM_001321945.2:c.195T>C, NM_001321945.2:c.195T>A, NM_001321945.1:c.195T>C, NM_001321945.1:c.195T>A, NM_001321948.2:c.195T>C, NM_001321948.2:c.195T>A, NM_001321948.1:c.195T>C, NM_001321948.1:c.195T>A, NM_001321947.2:c.156T>C, NM_001321947.2:c.156T>A, NM_001321947.1:c.156T>C, NM_001321947.1:c.156T>A, NM_001379342.1:c.195T>C, NM_001379342.1:c.195T>A

                                    18.

                                    rs1475576038 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      13:101721158 (GRCh38)
                                      13:102373508 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:101721157:C:A,NC_000013.11:101721157:C:G
                                      Gene:
                                      FGF14 (Varview), ITGBL1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.101721158C>A, NC_000013.11:g.101721158C>G, NC_000013.10:g.102373508C>A, NC_000013.10:g.102373508C>G, NG_008317.2:g.685617G>T, NG_008317.2:g.685617G>C, NM_175929.2:c.*1673G>T, NM_175929.2:c.*1673G>C, NM_175929.3:c.*1673G>T, NM_175929.3:c.*1673G>C, NM_001321949.1:c.*1673G>T, NM_001321949.1:c.*1673G>C, NM_001321944.1:c.*1673G>T, NM_001321944.1:c.*1673G>C, NM_001321940.1:c.*1673G>T, NM_001321940.1:c.*1673G>C, NM_001321943.1:c.*1673G>T, NM_001321943.1:c.*1673G>C, NM_001321942.1:c.*1673G>T, NM_001321942.1:c.*1673G>C, NM_001321932.1:c.*1673G>T, NM_001321932.1:c.*1673G>C, NM_001321931.1:c.*1673G>T, NM_001321931.1:c.*1673G>C, NM_001321933.1:c.*1673G>T, NM_001321933.1:c.*1673G>C, NM_001321936.1:c.*1673G>T, NM_001321936.1:c.*1673G>C, NM_001321934.1:c.*1673G>T, NM_001321934.1:c.*1673G>C, NM_001321935.1:c.*1673G>T, NM_001321935.1:c.*1673G>C, NM_004115.4:c.*1673G>T, NM_004115.4:c.*1673G>C, NM_004115.3:c.*1673G>T, NM_004115.3:c.*1673G>C, NM_001321938.2:c.*1673G>T, NM_001321938.2:c.*1673G>C, NM_001321938.1:c.*1673G>T, NM_001321938.1:c.*1673G>C, NM_001321941.2:c.*1673G>T, NM_001321941.2:c.*1673G>C, NM_001321941.1:c.*1673G>T, NM_001321941.1:c.*1673G>C, NM_001321946.2:c.*1673G>T, NM_001321946.2:c.*1673G>C, NM_001321946.1:c.*1673G>T, NM_001321946.1:c.*1673G>C, NM_001321939.2:c.*1673G>T, NM_001321939.2:c.*1673G>C, NM_001321939.1:c.*1673G>T, NM_001321939.1:c.*1673G>C, NM_001321945.2:c.*1673G>T, NM_001321945.2:c.*1673G>C, NM_001321945.1:c.*1673G>T, NM_001321945.1:c.*1673G>C, NM_001321948.2:c.*1673G>T, NM_001321948.2:c.*1673G>C, NM_001321948.1:c.*1673G>T, NM_001321948.1:c.*1673G>C, NM_001321947.2:c.*1673G>T, NM_001321947.2:c.*1673G>C, NM_001321947.1:c.*1673G>T, NM_001321947.1:c.*1673G>C, NM_001379342.1:c.*1673G>T, NM_001379342.1:c.*1673G>C

                                      19.

                                      rs1475056438 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        13:101722215 (GRCh38)
                                        13:102374565 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:101722214:T:C
                                        Gene:
                                        FGF14 (Varview), ITGBL1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000013.11:g.101722215T>C, NC_000013.10:g.102374565T>C, NG_008317.2:g.684560A>G, NM_175929.2:c.*616A>G, NM_175929.3:c.*616A>G, NM_001321949.1:c.*616A>G, NM_001321944.1:c.*616A>G, NM_001321940.1:c.*616A>G, NM_001321943.1:c.*616A>G, NM_001321942.1:c.*616A>G, NM_001321932.1:c.*616A>G, NM_001321931.1:c.*616A>G, NM_001321933.1:c.*616A>G, NM_001321936.1:c.*616A>G, NM_001321934.1:c.*616A>G, NM_001321935.1:c.*616A>G, NM_004115.4:c.*616A>G, NM_004115.3:c.*616A>G, NM_001321938.2:c.*616A>G, NM_001321938.1:c.*616A>G, NM_001321941.2:c.*616A>G, NM_001321941.1:c.*616A>G, NM_001321946.2:c.*616A>G, NM_001321946.1:c.*616A>G, NM_001321939.2:c.*616A>G, NM_001321939.1:c.*616A>G, NM_001321945.2:c.*616A>G, NM_001321945.1:c.*616A>G, NM_001321948.2:c.*616A>G, NM_001321948.1:c.*616A>G, NM_001321947.2:c.*616A>G, NM_001321947.1:c.*616A>G, NM_001379342.1:c.*616A>G

                                        20.

                                        rs1473419589 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GTCA [Show Flanks]
                                          Chromosome:
                                          13:101721630 (GRCh38)
                                          13:102373981 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:101721630:GTCA:GTCAGTCA
                                          Gene:
                                          FGF14 (Varview), ITGBL1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GTCAGTCA=0./0 (ALFA)
                                          GTCA=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000013.11:g.101721631_101721634dup, NC_000013.10:g.102373981_102373984dup, NG_008317.2:g.685141_685144dup, NM_175929.2:c.*1197_*1200dup, NM_175929.3:c.*1197_*1200dup, NM_001321949.1:c.*1197_*1200dup, NM_001321944.1:c.*1197_*1200dup, NM_001321940.1:c.*1197_*1200dup, NM_001321943.1:c.*1197_*1200dup, NM_001321942.1:c.*1197_*1200dup, NM_001321932.1:c.*1197_*1200dup, NM_001321931.1:c.*1197_*1200dup, NM_001321933.1:c.*1197_*1200dup, NM_001321936.1:c.*1197_*1200dup, NM_001321934.1:c.*1197_*1200dup, NM_001321935.1:c.*1197_*1200dup, NM_004115.4:c.*1197_*1200dup, NM_004115.3:c.*1197_*1200dup, NM_001321938.2:c.*1197_*1200dup, NM_001321938.1:c.*1197_*1200dup, NM_001321941.2:c.*1197_*1200dup, NM_001321941.1:c.*1197_*1200dup, NM_001321946.2:c.*1197_*1200dup, NM_001321946.1:c.*1197_*1200dup, NM_001321939.2:c.*1197_*1200dup, NM_001321939.1:c.*1197_*1200dup, NM_001321945.2:c.*1197_*1200dup, NM_001321945.1:c.*1197_*1200dup, NM_001321948.2:c.*1197_*1200dup, NM_001321948.1:c.*1197_*1200dup, NM_001321947.2:c.*1197_*1200dup, NM_001321947.1:c.*1197_*1200dup, NM_001379342.1:c.*1197_*1200dup

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