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Items: 1 to 20 of 2003

1.

rs1491492345 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CT,CTTT,T,TA,TGTT,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    15:65659321 (GRCh38)
    15:65951660 (GRCh37)
    Canonical SPDI:
    NC_000015.10:65659321::CT,NC_000015.10:65659321::CTTT,NC_000015.10:65659321::T,NC_000015.10:65659321::TA,NC_000015.10:65659321::TGTT,NC_000015.10:65659321::TT,NC_000015.10:65659321::TTT,NC_000015.10:65659321::TTTT,NC_000015.10:65659321::TTTTT,NC_000015.10:65659321::TTTTTT,NC_000015.10:65659321::TTTTTTT,NC_000015.10:65659321::TTTTTTTT,NC_000015.10:65659321::TTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659321::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SLC24A1 (Varview), DENND4A (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.65659321_65659322insCT, NC_000015.10:g.65659321_65659322insCTTT, NC_000015.10:g.65659321_65659322insT, NC_000015.10:g.65659321_65659322insTA, NC_000015.10:g.65659321_65659322insTGTT, NC_000015.10:g.65659321_65659322insTT, NC_000015.10:g.65659321_65659322insTTT, NC_000015.10:g.65659321_65659322insTTTT, NC_000015.10:g.65659321_65659322insTTTTT, NC_000015.10:g.65659321_65659322insTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.65659321_65659322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insCT, NC_000015.9:g.65951659_65951660insCTTT, NC_000015.9:g.65951659_65951660insT, NC_000015.9:g.65951659_65951660insTA, NC_000015.9:g.65951659_65951660insTGTT, NC_000015.9:g.65951659_65951660insTT, NC_000015.9:g.65951659_65951660insTTT, NC_000015.9:g.65951659_65951660insTTTT, NC_000015.9:g.65951659_65951660insTTTTT, NC_000015.9:g.65951659_65951660insTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.65951659_65951660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insCT, NG_031968.2:g.52917_52918insCTTT, NG_031968.2:g.52917_52918insT, NG_031968.2:g.52917_52918insTA, NG_031968.2:g.52917_52918insTGTT, NG_031968.2:g.52917_52918insTT, NG_031968.2:g.52917_52918insTTT, NG_031968.2:g.52917_52918insTTTT, NG_031968.2:g.52917_52918insTTTTT, NG_031968.2:g.52917_52918insTTTTTT, NG_031968.2:g.52917_52918insTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031968.2:g.52917_52918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, 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    2.

    rs1491309110 has merged into rs869058369 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      15:65659349 (GRCh38)
      15:65951687 (GRCh37)
      Canonical SPDI:
      NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65659322:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      SLC24A1 (Varview), DENND4A (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000015.10:g.65659349_65659351del, NC_000015.10:g.65659350_65659351del, NC_000015.10:g.65659351dup, NC_000015.10:g.65659350_65659351dup, NC_000015.10:g.65659349_65659351dup, NC_000015.10:g.65659348_65659351dup, NC_000015.10:g.65659347_65659351dup, NC_000015.10:g.65659346_65659351dup, NC_000015.10:g.65659345_65659351dup, NC_000015.10:g.65659344_65659351dup, NC_000015.10:g.65659342_65659351dup, NC_000015.10:g.65659341_65659351dup, NC_000015.10:g.65659338_65659351dup, NC_000015.10:g.65659337_65659351dup, NC_000015.9:g.65951687_65951689del, NC_000015.9:g.65951688_65951689del, NC_000015.9:g.65951689dup, NC_000015.9:g.65951688_65951689dup, NC_000015.9:g.65951687_65951689dup, NC_000015.9:g.65951686_65951689dup, NC_000015.9:g.65951685_65951689dup, NC_000015.9:g.65951684_65951689dup, NC_000015.9:g.65951683_65951689dup, NC_000015.9:g.65951682_65951689dup, NC_000015.9:g.65951680_65951689dup, NC_000015.9:g.65951679_65951689dup, NC_000015.9:g.65951676_65951689dup, NC_000015.9:g.65951675_65951689dup, NG_031968.2:g.52945_52947del, NG_031968.2:g.52946_52947del, NG_031968.2:g.52947dup, NG_031968.2:g.52946_52947dup, NG_031968.2:g.52945_52947dup, NG_031968.2:g.52944_52947dup, NG_031968.2:g.52943_52947dup, NG_031968.2:g.52942_52947dup, NG_031968.2:g.52941_52947dup, NG_031968.2:g.52940_52947dup, NG_031968.2:g.52938_52947dup, NG_031968.2:g.52937_52947dup, NG_031968.2:g.52934_52947dup, NG_031968.2:g.52933_52947dup, XM_005254120.6:c.*2526_*2528del, XM_005254120.6:c.*2527_*2528del, XM_005254120.6:c.*2528dup, XM_005254120.6:c.*2527_*2528dup, XM_005254120.6:c.*2526_*2528dup, XM_005254120.6:c.*2525_*2528dup, XM_005254120.6:c.*2524_*2528dup, XM_005254120.6:c.*2523_*2528dup, XM_005254120.6:c.*2522_*2528dup, XM_005254120.6:c.*2521_*2528dup, XM_005254120.6:c.*2519_*2528dup, XM_005254120.6:c.*2518_*2528dup, XM_005254120.6:c.*2515_*2528dup, XM_005254120.6:c.*2514_*2528dup, XM_005254120.5:c.*2526_*2528del, XM_005254120.5:c.*2527_*2528del, XM_005254120.5:c.*2528dup, XM_005254120.5:c.*2527_*2528dup, XM_005254120.5:c.*2526_*2528dup, XM_005254120.5:c.*2525_*2528dup, XM_005254120.5:c.*2524_*2528dup, XM_005254120.5:c.*2523_*2528dup, XM_005254120.5:c.*2522_*2528dup, XM_005254120.5:c.*2521_*2528dup, XM_005254120.5:c.*2519_*2528dup, XM_005254120.5:c.*2518_*2528dup, XM_005254120.5:c.*2515_*2528dup, XM_005254120.5:c.*2514_*2528dup, XM_005254120.3:c.*2526_*2528del, XM_005254120.3:c.*2527_*2528del, XM_005254120.3:c.*2528dup, XM_005254120.3:c.*2527_*2528dup, XM_005254120.3:c.*2526_*2528dup, XM_005254120.3:c.*2525_*2528dup, XM_005254120.3:c.*2524_*2528dup, XM_005254120.3:c.*2523_*2528dup, XM_005254120.3:c.*2522_*2528dup, XM_005254120.3:c.*2521_*2528dup, XM_005254120.3:c.*2519_*2528dup, XM_005254120.3:c.*2518_*2528dup, XM_005254120.3:c.*2515_*2528dup, XM_005254120.3:c.*2514_*2528dup, NM_005848.4:c.*2526_*2528del, NM_005848.4:c.*2527_*2528del, NM_005848.4:c.*2528dup, NM_005848.4:c.*2527_*2528dup, NM_005848.4:c.*2526_*2528dup, NM_005848.4:c.*2525_*2528dup, NM_005848.4:c.*2524_*2528dup, NM_005848.4:c.*2523_*2528dup, NM_005848.4:c.*2522_*2528dup, NM_005848.4:c.*2521_*2528dup, NM_005848.4:c.*2519_*2528dup, NM_005848.4:c.*2518_*2528dup, NM_005848.4:c.*2515_*2528dup, NM_005848.4:c.*2514_*2528dup, NM_001144823.2:c.*2526_*2528del, NM_001144823.2:c.*2527_*2528del, NM_001144823.2:c.*2528dup, NM_001144823.2:c.*2527_*2528dup, NM_001144823.2:c.*2526_*2528dup, NM_001144823.2:c.*2525_*2528dup, NM_001144823.2:c.*2524_*2528dup, NM_001144823.2:c.*2523_*2528dup, NM_001144823.2:c.*2522_*2528dup, NM_001144823.2:c.*2521_*2528dup, NM_001144823.2:c.*2519_*2528dup, NM_001144823.2:c.*2518_*2528dup, NM_001144823.2:c.*2515_*2528dup, NM_001144823.2:c.*2514_*2528dup, XR_007064494.1:n.8831_8833del, XR_007064494.1:n.8832_8833del, XR_007064494.1:n.8833dup, XR_007064494.1:n.8832_8833dup, XR_007064494.1:n.8831_8833dup, XR_007064494.1:n.8830_8833dup, XR_007064494.1:n.8829_8833dup, XR_007064494.1:n.8828_8833dup, XR_007064494.1:n.8827_8833dup, XR_007064494.1:n.8826_8833dup, XR_007064494.1:n.8824_8833dup, XR_007064494.1:n.8823_8833dup, XR_007064494.1:n.8820_8833dup, XR_007064494.1:n.8819_8833dup, XM_047432089.1:c.*2526_*2528del, XM_047432089.1:c.*2527_*2528del, XM_047432089.1:c.*2528dup, XM_047432089.1:c.*2527_*2528dup, XM_047432089.1:c.*2526_*2528dup, XM_047432089.1:c.*2525_*2528dup, XM_047432089.1:c.*2524_*2528dup, XM_047432089.1:c.*2523_*2528dup, XM_047432089.1:c.*2522_*2528dup, XM_047432089.1:c.*2521_*2528dup, XM_047432089.1:c.*2519_*2528dup, XM_047432089.1:c.*2518_*2528dup, XM_047432089.1:c.*2515_*2528dup, XM_047432089.1:c.*2514_*2528dup, XM_047432093.1:c.*2526_*2528del, XM_047432093.1:c.*2527_*2528del, XM_047432093.1:c.*2528dup, XM_047432093.1:c.*2527_*2528dup, XM_047432093.1:c.*2526_*2528dup, XM_047432093.1:c.*2525_*2528dup, XM_047432093.1:c.*2524_*2528dup, XM_047432093.1:c.*2523_*2528dup, XM_047432093.1:c.*2522_*2528dup, XM_047432093.1:c.*2521_*2528dup, XM_047432093.1:c.*2519_*2528dup, XM_047432093.1:c.*2518_*2528dup, XM_047432093.1:c.*2515_*2528dup, XM_047432093.1:c.*2514_*2528dup, XM_047432094.1:c.*2526_*2528del, XM_047432094.1:c.*2527_*2528del, XM_047432094.1:c.*2528dup, XM_047432094.1:c.*2527_*2528dup, XM_047432094.1:c.*2526_*2528dup, XM_047432094.1:c.*2525_*2528dup, XM_047432094.1:c.*2524_*2528dup, XM_047432094.1:c.*2523_*2528dup, XM_047432094.1:c.*2522_*2528dup, XM_047432094.1:c.*2521_*2528dup, XM_047432094.1:c.*2519_*2528dup, XM_047432094.1:c.*2518_*2528dup, XM_047432094.1:c.*2515_*2528dup, XM_047432094.1:c.*2514_*2528dup, XM_047432096.1:c.*2526_*2528del, XM_047432096.1:c.*2527_*2528del, XM_047432096.1:c.*2528dup, XM_047432096.1:c.*2527_*2528dup, XM_047432096.1:c.*2526_*2528dup, XM_047432096.1:c.*2525_*2528dup, XM_047432096.1:c.*2524_*2528dup, XM_047432096.1:c.*2523_*2528dup, XM_047432096.1:c.*2522_*2528dup, XM_047432096.1:c.*2521_*2528dup, XM_047432096.1:c.*2519_*2528dup, XM_047432096.1:c.*2518_*2528dup, XM_047432096.1:c.*2515_*2528dup, XM_047432096.1:c.*2514_*2528dup, XM_047432086.1:c.*2526_*2528del, XM_047432086.1:c.*2527_*2528del, XM_047432086.1:c.*2528dup, XM_047432086.1:c.*2527_*2528dup, XM_047432086.1:c.*2526_*2528dup, XM_047432086.1:c.*2525_*2528dup, XM_047432086.1:c.*2524_*2528dup, XM_047432086.1:c.*2523_*2528dup, XM_047432086.1:c.*2522_*2528dup, XM_047432086.1:c.*2521_*2528dup, XM_047432086.1:c.*2519_*2528dup, XM_047432086.1:c.*2518_*2528dup, XM_047432086.1:c.*2515_*2528dup, XM_047432086.1:c.*2514_*2528dup, XM_047432090.1:c.*2526_*2528del, XM_047432090.1:c.*2527_*2528del, XM_047432090.1:c.*2528dup, XM_047432090.1:c.*2527_*2528dup, XM_047432090.1:c.*2526_*2528dup, XM_047432090.1:c.*2525_*2528dup, XM_047432090.1:c.*2524_*2528dup, XM_047432090.1:c.*2523_*2528dup, XM_047432090.1:c.*2522_*2528dup, XM_047432090.1:c.*2521_*2528dup, XM_047432090.1:c.*2519_*2528dup, XM_047432090.1:c.*2518_*2528dup, XM_047432090.1:c.*2515_*2528dup, XM_047432090.1:c.*2514_*2528dup, NM_001320835.1:c.*2526_*2528del, NM_001320835.1:c.*2527_*2528del, NM_001320835.1:c.*2528dup, NM_001320835.1:c.*2527_*2528dup, NM_001320835.1:c.*2526_*2528dup, NM_001320835.1:c.*2525_*2528dup, NM_001320835.1:c.*2524_*2528dup, NM_001320835.1:c.*2523_*2528dup, NM_001320835.1:c.*2522_*2528dup, NM_001320835.1:c.*2521_*2528dup, NM_001320835.1:c.*2519_*2528dup, NM_001320835.1:c.*2518_*2528dup, NM_001320835.1:c.*2515_*2528dup, NM_001320835.1:c.*2514_*2528dup, XM_047432101.1:c.*2526_*2528del, XM_047432101.1:c.*2527_*2528del, XM_047432101.1:c.*2528dup, XM_047432101.1:c.*2527_*2528dup, XM_047432101.1:c.*2526_*2528dup, XM_047432101.1:c.*2525_*2528dup, XM_047432101.1:c.*2524_*2528dup, XM_047432101.1:c.*2523_*2528dup, XM_047432101.1:c.*2522_*2528dup, XM_047432101.1:c.*2521_*2528dup, XM_047432101.1:c.*2519_*2528dup, XM_047432101.1:c.*2518_*2528dup, XM_047432101.1:c.*2515_*2528dup, XM_047432101.1:c.*2514_*2528dup, XM_047432103.1:c.*2526_*2528del, XM_047432103.1:c.*2527_*2528del, XM_047432103.1:c.*2528dup, XM_047432103.1:c.*2527_*2528dup, XM_047432103.1:c.*2526_*2528dup, XM_047432103.1:c.*2525_*2528dup, XM_047432103.1:c.*2524_*2528dup, XM_047432103.1:c.*2523_*2528dup, XM_047432103.1:c.*2522_*2528dup, XM_047432103.1:c.*2521_*2528dup, XM_047432103.1:c.*2519_*2528dup, XM_047432103.1:c.*2518_*2528dup, XM_047432103.1:c.*2515_*2528dup, XM_047432103.1:c.*2514_*2528dup, XM_047432087.1:c.*2526_*2528del, XM_047432087.1:c.*2527_*2528del, XM_047432087.1:c.*2528dup, XM_047432087.1:c.*2527_*2528dup, XM_047432087.1:c.*2526_*2528dup, XM_047432087.1:c.*2525_*2528dup, XM_047432087.1:c.*2524_*2528dup, XM_047432087.1:c.*2523_*2528dup, XM_047432087.1:c.*2522_*2528dup, XM_047432087.1:c.*2521_*2528dup, XM_047432087.1:c.*2519_*2528dup, XM_047432087.1:c.*2518_*2528dup, XM_047432087.1:c.*2515_*2528dup, XM_047432087.1:c.*2514_*2528dup, XM_047432091.1:c.*2526_*2528del, XM_047432091.1:c.*2527_*2528del, XM_047432091.1:c.*2528dup, XM_047432091.1:c.*2527_*2528dup, XM_047432091.1:c.*2526_*2528dup, XM_047432091.1:c.*2525_*2528dup, XM_047432091.1:c.*2524_*2528dup, XM_047432091.1:c.*2523_*2528dup, XM_047432091.1:c.*2522_*2528dup, XM_047432091.1:c.*2521_*2528dup, XM_047432091.1:c.*2519_*2528dup, XM_047432091.1:c.*2518_*2528dup, XM_047432091.1:c.*2515_*2528dup, XM_047432091.1:c.*2514_*2528dup, XM_047432097.1:c.*2526_*2528del, XM_047432097.1:c.*2527_*2528del, XM_047432097.1:c.*2528dup, XM_047432097.1:c.*2527_*2528dup, XM_047432097.1:c.*2526_*2528dup, XM_047432097.1:c.*2525_*2528dup, XM_047432097.1:c.*2524_*2528dup, XM_047432097.1:c.*2523_*2528dup, XM_047432097.1:c.*2522_*2528dup, XM_047432097.1:c.*2521_*2528dup, XM_047432097.1:c.*2519_*2528dup, XM_047432097.1:c.*2518_*2528dup, XM_047432097.1:c.*2515_*2528dup, XM_047432097.1:c.*2514_*2528dup, XM_047432088.1:c.*2526_*2528del, XM_047432088.1:c.*2527_*2528del, XM_047432088.1:c.*2528dup, XM_047432088.1:c.*2527_*2528dup, XM_047432088.1:c.*2526_*2528dup, XM_047432088.1:c.*2525_*2528dup, XM_047432088.1:c.*2524_*2528dup, XM_047432088.1:c.*2523_*2528dup, XM_047432088.1:c.*2522_*2528dup, XM_047432088.1:c.*2521_*2528dup, XM_047432088.1:c.*2519_*2528dup, XM_047432088.1:c.*2518_*2528dup, XM_047432088.1:c.*2515_*2528dup, XM_047432088.1:c.*2514_*2528dup, XM_047432098.1:c.*2526_*2528del, XM_047432098.1:c.*2527_*2528del, XM_047432098.1:c.*2528dup, XM_047432098.1:c.*2527_*2528dup, XM_047432098.1:c.*2526_*2528dup, XM_047432098.1:c.*2525_*2528dup, XM_047432098.1:c.*2524_*2528dup, XM_047432098.1:c.*2523_*2528dup, XM_047432098.1:c.*2522_*2528dup, XM_047432098.1:c.*2521_*2528dup, XM_047432098.1:c.*2519_*2528dup, XM_047432098.1:c.*2518_*2528dup, XM_047432098.1:c.*2515_*2528dup, XM_047432098.1:c.*2514_*2528dup, XM_047432092.1:c.*2526_*2528del, XM_047432092.1:c.*2527_*2528del, XM_047432092.1:c.*2528dup, XM_047432092.1:c.*2527_*2528dup, XM_047432092.1:c.*2526_*2528dup, XM_047432092.1:c.*2525_*2528dup, XM_047432092.1:c.*2524_*2528dup, XM_047432092.1:c.*2523_*2528dup, XM_047432092.1:c.*2522_*2528dup, XM_047432092.1:c.*2521_*2528dup, XM_047432092.1:c.*2519_*2528dup, XM_047432092.1:c.*2518_*2528dup, XM_047432092.1:c.*2515_*2528dup, XM_047432092.1:c.*2514_*2528dup, NM_001376919.1:c.*2526_*2528del, NM_001376919.1:c.*2527_*2528del, NM_001376919.1:c.*2528dup, NM_001376919.1:c.*2527_*2528dup, NM_001376919.1:c.*2526_*2528dup, NM_001376919.1:c.*2525_*2528dup, NM_001376919.1:c.*2524_*2528dup, NM_001376919.1:c.*2523_*2528dup, NM_001376919.1:c.*2522_*2528dup, NM_001376919.1:c.*2521_*2528dup, NM_001376919.1:c.*2519_*2528dup, NM_001376919.1:c.*2518_*2528dup, NM_001376919.1:c.*2515_*2528dup, NM_001376919.1:c.*2514_*2528dup, XM_047432095.1:c.*2526_*2528del, XM_047432095.1:c.*2527_*2528del, XM_047432095.1:c.*2528dup, XM_047432095.1:c.*2527_*2528dup, XM_047432095.1:c.*2526_*2528dup, XM_047432095.1:c.*2525_*2528dup, XM_047432095.1:c.*2524_*2528dup, XM_047432095.1:c.*2523_*2528dup, XM_047432095.1:c.*2522_*2528dup, XM_047432095.1:c.*2521_*2528dup, XM_047432095.1:c.*2519_*2528dup, XM_047432095.1:c.*2518_*2528dup, XM_047432095.1:c.*2515_*2528dup, XM_047432095.1:c.*2514_*2528dup, XM_047432104.1:c.*2526_*2528del, XM_047432104.1:c.*2527_*2528del, XM_047432104.1:c.*2528dup, XM_047432104.1:c.*2527_*2528dup, XM_047432104.1:c.*2526_*2528dup, XM_047432104.1:c.*2525_*2528dup, XM_047432104.1:c.*2524_*2528dup, XM_047432104.1:c.*2523_*2528dup, XM_047432104.1:c.*2522_*2528dup, XM_047432104.1:c.*2521_*2528dup, XM_047432104.1:c.*2519_*2528dup, XM_047432104.1:c.*2518_*2528dup, XM_047432104.1:c.*2515_*2528dup, XM_047432104.1:c.*2514_*2528dup, XM_047432100.1:c.*2526_*2528del, XM_047432100.1:c.*2527_*2528del, XM_047432100.1:c.*2528dup, XM_047432100.1:c.*2527_*2528dup, XM_047432100.1:c.*2526_*2528dup, XM_047432100.1:c.*2525_*2528dup, XM_047432100.1:c.*2524_*2528dup, XM_047432100.1:c.*2523_*2528dup, XM_047432100.1:c.*2522_*2528dup, XM_047432100.1:c.*2521_*2528dup, XM_047432100.1:c.*2519_*2528dup, XM_047432100.1:c.*2518_*2528dup, XM_047432100.1:c.*2515_*2528dup, XM_047432100.1:c.*2514_*2528dup, NM_001376920.1:c.*2526_*2528del, NM_001376920.1:c.*2527_*2528del, NM_001376920.1:c.*2528dup, NM_001376920.1:c.*2527_*2528dup, NM_001376920.1:c.*2526_*2528dup, NM_001376920.1:c.*2525_*2528dup, NM_001376920.1:c.*2524_*2528dup, NM_001376920.1:c.*2523_*2528dup, NM_001376920.1:c.*2522_*2528dup, NM_001376920.1:c.*2521_*2528dup, NM_001376920.1:c.*2519_*2528dup, NM_001376920.1:c.*2518_*2528dup, NM_001376920.1:c.*2515_*2528dup, NM_001376920.1:c.*2514_*2528dup, XM_047432099.1:c.*2526_*2528del, XM_047432099.1:c.*2527_*2528del, XM_047432099.1:c.*2528dup, XM_047432099.1:c.*2527_*2528dup, XM_047432099.1:c.*2526_*2528dup, XM_047432099.1:c.*2525_*2528dup, XM_047432099.1:c.*2524_*2528dup, XM_047432099.1:c.*2523_*2528dup, XM_047432099.1:c.*2522_*2528dup, XM_047432099.1:c.*2521_*2528dup, XM_047432099.1:c.*2519_*2528dup, XM_047432099.1:c.*2518_*2528dup, XM_047432099.1:c.*2515_*2528dup, XM_047432099.1:c.*2514_*2528dup, XM_047432102.1:c.*2526_*2528del, XM_047432102.1:c.*2527_*2528del, XM_047432102.1:c.*2528dup, XM_047432102.1:c.*2527_*2528dup, XM_047432102.1:c.*2526_*2528dup, XM_047432102.1:c.*2525_*2528dup, XM_047432102.1:c.*2524_*2528dup, XM_047432102.1:c.*2523_*2528dup, XM_047432102.1:c.*2522_*2528dup, XM_047432102.1:c.*2521_*2528dup, XM_047432102.1:c.*2519_*2528dup, XM_047432102.1:c.*2518_*2528dup, XM_047432102.1:c.*2515_*2528dup, XM_047432102.1:c.*2514_*2528dup, XM_047432105.1:c.*2526_*2528del, XM_047432105.1:c.*2527_*2528del, XM_047432105.1:c.*2528dup, XM_047432105.1:c.*2527_*2528dup, XM_047432105.1:c.*2526_*2528dup, XM_047432105.1:c.*2525_*2528dup, XM_047432105.1:c.*2524_*2528dup, XM_047432105.1:c.*2523_*2528dup, XM_047432105.1:c.*2522_*2528dup, XM_047432105.1:c.*2521_*2528dup, XM_047432105.1:c.*2519_*2528dup, XM_047432105.1:c.*2518_*2528dup, XM_047432105.1:c.*2515_*2528dup, XM_047432105.1:c.*2514_*2528dup

      3.

      rs1491289557 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GG>- [Show Flanks]
        Chromosome:
        15:65659321 (GRCh38)
        15:65951659 (GRCh37)
        Canonical SPDI:
        NC_000015.10:65659320:GG:
        Gene:
        SLC24A1 (Varview), DENND4A (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00099/63 (GnomAD)
        -=0.0017/23 (TOMMO)
        -=0.00419/7 (Korea1K)
        HGVS:
        NC_000015.10:g.65659321_65659322del, NC_000015.9:g.65951659_65951660del, NG_031968.2:g.52917_52918del, XM_005254120.6:c.*2529_*2530del, XM_005254120.5:c.*2529_*2530del, XM_005254120.3:c.*2529_*2530del, NM_005848.4:c.*2529_*2530del, NM_001144823.2:c.*2529_*2530del, XR_007064494.1:n.8803_8804del, XM_047432089.1:c.*2529_*2530del, XM_047432093.1:c.*2529_*2530del, XM_047432094.1:c.*2529_*2530del, XM_047432096.1:c.*2529_*2530del, XM_047432086.1:c.*2529_*2530del, XM_047432090.1:c.*2529_*2530del, NM_001320835.1:c.*2529_*2530del, XM_047432101.1:c.*2529_*2530del, XM_047432103.1:c.*2529_*2530del, XM_047432087.1:c.*2529_*2530del, XM_047432091.1:c.*2529_*2530del, XM_047432097.1:c.*2529_*2530del, XM_047432088.1:c.*2529_*2530del, XM_047432098.1:c.*2529_*2530del, XM_047432092.1:c.*2529_*2530del, NM_001376919.1:c.*2529_*2530del, XM_047432095.1:c.*2529_*2530del, XM_047432104.1:c.*2529_*2530del, XM_047432100.1:c.*2529_*2530del, NM_001376920.1:c.*2529_*2530del, XM_047432099.1:c.*2529_*2530del, XM_047432102.1:c.*2529_*2530del, XM_047432105.1:c.*2529_*2530del

        4.

        rs1491279505 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          15:65659322 (GRCh38)
          15:65951660 (GRCh37)
          Canonical SPDI:
          NC_000015.10:65659321:GT:
          Gene:
          SLC24A1 (Varview), DENND4A (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.06955/825 (ALFA)
          -=0.04047/48 (Korea1K)
          -=0.06815/577 (TOMMO)
          -=0.17374/10825 (GnomAD)
          HGVS:
          NC_000015.10:g.65659322_65659323del, NC_000015.9:g.65951660_65951661del, NG_031968.2:g.52918_52919del, XM_005254120.6:c.*2528_*2529del, XM_005254120.5:c.*2528_*2529del, XM_005254120.3:c.*2528_*2529del, NM_005848.4:c.*2528_*2529del, NM_001144823.2:c.*2528_*2529del, XR_007064494.1:n.8804_8805del, XM_047432089.1:c.*2528_*2529del, XM_047432093.1:c.*2528_*2529del, XM_047432094.1:c.*2528_*2529del, XM_047432096.1:c.*2528_*2529del, XM_047432086.1:c.*2528_*2529del, XM_047432090.1:c.*2528_*2529del, NM_001320835.1:c.*2528_*2529del, XM_047432101.1:c.*2528_*2529del, XM_047432103.1:c.*2528_*2529del, XM_047432087.1:c.*2528_*2529del, XM_047432091.1:c.*2528_*2529del, XM_047432097.1:c.*2528_*2529del, XM_047432088.1:c.*2528_*2529del, XM_047432098.1:c.*2528_*2529del, XM_047432092.1:c.*2528_*2529del, NM_001376919.1:c.*2528_*2529del, XM_047432095.1:c.*2528_*2529del, XM_047432104.1:c.*2528_*2529del, XM_047432100.1:c.*2528_*2529del, NM_001376920.1:c.*2528_*2529del, XM_047432099.1:c.*2528_*2529del, XM_047432102.1:c.*2528_*2529del, XM_047432105.1:c.*2528_*2529del

          5.

          rs1490884729 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            15:65659312 (GRCh38)
            15:65951650 (GRCh37)
            Canonical SPDI:
            NC_000015.10:65659311:A:G,NC_000015.10:65659311:A:T
            Gene:
            SLC24A1 (Varview), DENND4A (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            T=0.0005/14 (TOMMO)
            HGVS:
            NC_000015.10:g.65659312A>G, NC_000015.10:g.65659312A>T, NC_000015.9:g.65951650A>G, NC_000015.9:g.65951650A>T, NG_031968.2:g.52908A>G, NG_031968.2:g.52908A>T, XM_005254120.6:c.*2539T>C, XM_005254120.6:c.*2539T>A, XM_005254120.5:c.*2539T>C, XM_005254120.5:c.*2539T>A, XM_005254120.3:c.*2539T>C, XM_005254120.3:c.*2539T>A, NM_005848.4:c.*2539T>C, NM_005848.4:c.*2539T>A, NM_001144823.2:c.*2539T>C, NM_001144823.2:c.*2539T>A, XR_007064494.1:n.8794A>G, XR_007064494.1:n.8794A>T, XM_047432089.1:c.*2539T>C, XM_047432089.1:c.*2539T>A, XM_047432093.1:c.*2539T>C, XM_047432093.1:c.*2539T>A, XM_047432094.1:c.*2539T>C, XM_047432094.1:c.*2539T>A, XM_047432096.1:c.*2539T>C, XM_047432096.1:c.*2539T>A, XM_047432086.1:c.*2539T>C, XM_047432086.1:c.*2539T>A, XM_047432090.1:c.*2539T>C, XM_047432090.1:c.*2539T>A, NM_001320835.1:c.*2539T>C, NM_001320835.1:c.*2539T>A, XM_047432101.1:c.*2539T>C, XM_047432101.1:c.*2539T>A, XM_047432103.1:c.*2539T>C, XM_047432103.1:c.*2539T>A, XM_047432087.1:c.*2539T>C, XM_047432087.1:c.*2539T>A, XM_047432091.1:c.*2539T>C, XM_047432091.1:c.*2539T>A, XM_047432097.1:c.*2539T>C, XM_047432097.1:c.*2539T>A, XM_047432088.1:c.*2539T>C, XM_047432088.1:c.*2539T>A, XM_047432098.1:c.*2539T>C, XM_047432098.1:c.*2539T>A, XM_047432092.1:c.*2539T>C, XM_047432092.1:c.*2539T>A, NM_001376919.1:c.*2539T>C, NM_001376919.1:c.*2539T>A, XM_047432095.1:c.*2539T>C, XM_047432095.1:c.*2539T>A, XM_047432104.1:c.*2539T>C, XM_047432104.1:c.*2539T>A, XM_047432100.1:c.*2539T>C, XM_047432100.1:c.*2539T>A, NM_001376920.1:c.*2539T>C, NM_001376920.1:c.*2539T>A, XM_047432099.1:c.*2539T>C, XM_047432099.1:c.*2539T>A, XM_047432102.1:c.*2539T>C, XM_047432102.1:c.*2539T>A, XM_047432105.1:c.*2539T>C, XM_047432105.1:c.*2539T>A

            6.

            rs1490006785 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:65729615 (GRCh38)
              15:66021953 (GRCh37)
              Canonical SPDI:
              NC_000015.10:65729614:C:T
              Gene:
              DENND4A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              HGVS:
              NC_000015.10:g.65729615C>T, NC_000015.9:g.66021953C>T, XM_005254120.6:c.1230G>A, XM_005254120.5:c.1230G>A, XM_005254120.4:c.1230G>A, XM_005254120.3:c.1230G>A, XM_005254120.2:c.1230G>A, XM_005254120.1:c.1230G>A, NM_005848.4:c.1230G>A, NM_005848.3:c.1230G>A, XM_011521156.4:c.1230G>A, XM_011521156.3:c.1230G>A, XM_011521156.2:c.1230G>A, XM_011521156.1:c.1230G>A, NM_001144823.2:c.1230G>A, NM_001144823.1:c.1230G>A, XM_047432089.1:c.1230G>A, XM_047432093.1:c.1230G>A, XM_047432094.1:c.1230G>A, XM_047432096.1:c.1230G>A, XM_047432086.1:c.1230G>A, XM_047432090.1:c.1230G>A, NM_001320835.1:c.1230G>A, XM_047432101.1:c.1230G>A, XM_047432103.1:c.1230G>A, XM_047432087.1:c.1230G>A, XM_047432091.1:c.1230G>A, XM_047432097.1:c.1230G>A, XM_047432088.1:c.1230G>A, XM_047432098.1:c.1230G>A, XM_047432092.1:c.1230G>A, NM_001376919.1:c.1230G>A, XM_047432095.1:c.1230G>A, XM_047432104.1:c.1230G>A, XM_047432100.1:c.1230G>A, NM_001376920.1:c.1230G>A, XM_047432099.1:c.1230G>A, XM_047432102.1:c.1230G>A, XM_047432106.1:c.1230G>A

              7.

              rs1489705617 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                15:65661720 (GRCh38)
                15:65954059 (GRCh37)
                Canonical SPDI:
                NC_000015.10:65661720:G:GG
                Gene:
                DENND4A (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GG=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.65661721dup, NC_000015.9:g.65954059dup, NG_031968.2:g.55317dup, XM_005254120.6:c.*130dup, XM_005254120.5:c.*130dup, XM_005254120.4:c.*130dup, XM_005254120.3:c.*130dup, XM_005254120.2:c.*130dup, XM_005254120.1:c.*130dup, NM_005848.4:c.*130dup, NM_005848.3:c.*130dup, NM_001144823.2:c.*130dup, NM_001144823.1:c.*130dup, XM_047432089.1:c.*130dup, XM_047432093.1:c.*130dup, XM_047432094.1:c.*130dup, XM_047432096.1:c.*130dup, XM_047432086.1:c.*130dup, XM_047432090.1:c.*130dup, NM_001320835.1:c.*130dup, XM_047432101.1:c.*130dup, XM_047432103.1:c.*130dup, XM_047432087.1:c.*130dup, XM_047432091.1:c.*130dup, XM_047432097.1:c.*130dup, XM_047432088.1:c.*130dup, XM_047432098.1:c.*130dup, XM_047432092.1:c.*130dup, NM_001376919.1:c.*130dup, XM_047432095.1:c.*130dup, XM_047432104.1:c.*130dup, XM_047432100.1:c.*130dup, NM_001376920.1:c.*130dup, XM_047432099.1:c.*130dup, XM_047432102.1:c.*130dup, XM_047432105.1:c.*130dup

                8.

                rs1489608136 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  15:65664622 (GRCh38)
                  15:65956960 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:65664621:G:T
                  Gene:
                  DENND4A (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.65664622G>T, NC_000015.9:g.65956960G>T, XM_005254120.6:c.5460C>A, XM_005254120.5:c.5460C>A, XM_005254120.4:c.5460C>A, XM_005254120.3:c.5460C>A, XM_005254120.2:c.5460C>A, XM_005254120.1:c.5460C>A, NM_005848.4:c.5328C>A, NM_005848.3:c.5328C>A, NM_001144823.2:c.5457C>A, NM_001144823.1:c.5457C>A, XM_047432089.1:c.5487C>A, XM_047432093.1:c.5484C>A, XM_047432094.1:c.5460C>A, XM_047432096.1:c.5457C>A, XM_047432086.1:c.5487C>A, XM_047432090.1:c.5484C>A, NM_001320835.1:c.5460C>A, XM_047432101.1:c.5355C>A, XM_047432103.1:c.5328C>A, XM_047432087.1:c.5487C>A, XM_047432091.1:c.5484C>A, XM_047432097.1:c.5457C>A, XM_047432088.1:c.5487C>A, XM_047432098.1:c.5355C>A, XM_047432092.1:c.5484C>A, NM_001376919.1:c.5328C>A, XM_047432095.1:c.5457C>A, XM_047432104.1:c.5328C>A, XM_047432100.1:c.5355C>A, NM_001376920.1:c.5328C>A, XM_047432099.1:c.5355C>A, XM_047432102.1:c.5328C>A, XM_047432105.1:c.3939C>A

                  9.

                  rs1489510038 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:65691220 (GRCh38)
                    15:65983558 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:65691219:T:C
                    Gene:
                    DENND4A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000066/1 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000446/2 (Estonian)
                    HGVS:
                    NC_000015.10:g.65691220T>C, NC_000015.9:g.65983558T>C, XM_005254120.6:c.3374A>G, XM_005254120.5:c.3374A>G, XM_005254120.4:c.3374A>G, XM_005254120.3:c.3374A>G, XM_005254120.2:c.3374A>G, XM_005254120.1:c.3374A>G, NM_005848.4:c.3242A>G, NM_005848.3:c.3242A>G, XM_011521156.4:c.3374A>G, XM_011521156.3:c.3374A>G, XM_011521156.2:c.3374A>G, XM_011521156.1:c.3374A>G, NM_001144823.2:c.3371A>G, NM_001144823.1:c.3371A>G, XM_047432089.1:c.3374A>G, XM_047432093.1:c.3371A>G, XM_047432094.1:c.3374A>G, XM_047432096.1:c.3371A>G, XM_047432086.1:c.3374A>G, XM_047432090.1:c.3371A>G, NM_001320835.1:c.3374A>G, XM_047432101.1:c.3242A>G, XM_047432103.1:c.3242A>G, XM_047432087.1:c.3374A>G, XM_047432091.1:c.3371A>G, XM_047432097.1:c.3371A>G, XM_047432088.1:c.3374A>G, XM_047432098.1:c.3242A>G, XM_047432092.1:c.3371A>G, NM_001376919.1:c.3242A>G, XM_047432095.1:c.3371A>G, XM_047432104.1:c.3242A>G, XM_047432100.1:c.3242A>G, NM_001376920.1:c.3242A>G, XM_047432099.1:c.3242A>G, XM_047432102.1:c.3242A>G, XM_047432105.1:c.1826A>G, XM_047432106.1:c.3242A>G, XP_005254177.1:p.Asp1125Gly, NP_005839.3:p.Asp1081Gly, XP_011519458.1:p.Asp1125Gly, NP_001138295.1:p.Asp1124Gly, XP_047288045.1:p.Asp1125Gly, XP_047288049.1:p.Asp1124Gly, XP_047288050.1:p.Asp1125Gly, XP_047288052.1:p.Asp1124Gly, XP_047288042.1:p.Asp1125Gly, XP_047288046.1:p.Asp1124Gly, NP_001307764.1:p.Asp1125Gly, XP_047288057.1:p.Asp1081Gly, XP_047288059.1:p.Asp1081Gly, XP_047288043.1:p.Asp1125Gly, XP_047288047.1:p.Asp1124Gly, XP_047288053.1:p.Asp1124Gly, XP_047288044.1:p.Asp1125Gly, XP_047288054.1:p.Asp1081Gly, XP_047288048.1:p.Asp1124Gly, NP_001363848.1:p.Asp1081Gly, XP_047288051.1:p.Asp1124Gly, XP_047288060.1:p.Asp1081Gly, XP_047288056.1:p.Asp1081Gly, NP_001363849.1:p.Asp1081Gly, XP_047288055.1:p.Asp1081Gly, XP_047288058.1:p.Asp1081Gly, XP_047288061.1:p.Asp609Gly, XP_047288062.1:p.Asp1081Gly

                    10.

                    rs1488730201 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      15:65660151 (GRCh38)
                      15:65952489 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:65660150:AA:A
                      Gene:
                      SLC24A1 (Varview), DENND4A (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000015.10:g.65660152del, NC_000015.9:g.65952490del, NG_031968.2:g.53748del, XM_005254120.6:c.*1700del, XM_005254120.5:c.*1700del, XM_005254120.4:c.*1700del, XM_005254120.3:c.*1700del, NM_005848.4:c.*1700del, NM_001144823.2:c.*1700del, XR_007064494.1:n.9634del, XM_047432089.1:c.*1700del, XM_047432093.1:c.*1700del, XM_047432094.1:c.*1700del, XM_047432096.1:c.*1700del, XM_047432086.1:c.*1700del, XM_047432090.1:c.*1700del, NM_001320835.1:c.*1700del, XM_047432101.1:c.*1700del, XM_047432103.1:c.*1700del, XM_047432087.1:c.*1700del, XM_047432091.1:c.*1700del, XM_047432097.1:c.*1700del, XM_047432088.1:c.*1700del, XM_047432098.1:c.*1700del, XM_047432092.1:c.*1700del, NM_001376919.1:c.*1700del, XM_047432095.1:c.*1700del, XM_047432104.1:c.*1700del, XM_047432100.1:c.*1700del, NM_001376920.1:c.*1700del, XM_047432099.1:c.*1700del, XM_047432102.1:c.*1700del, XM_047432105.1:c.*1700del

                      11.

                      rs1487896039 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        15:65701813 (GRCh38)
                        15:65994151 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:65701812:C:A
                        Gene:
                        DENND4A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.65701813C>A, NC_000015.9:g.65994151C>A, XM_005254120.6:c.2508G>T, XM_005254120.5:c.2508G>T, XM_005254120.4:c.2508G>T, XM_005254120.3:c.2508G>T, XM_005254120.2:c.2508G>T, XM_005254120.1:c.2508G>T, NM_005848.4:c.2508G>T, NM_005848.3:c.2508G>T, XM_011521156.4:c.2508G>T, XM_011521156.3:c.2508G>T, XM_011521156.2:c.2508G>T, XM_011521156.1:c.2508G>T, NM_001144823.2:c.2508G>T, NM_001144823.1:c.2508G>T, XM_047432089.1:c.2508G>T, XM_047432093.1:c.2508G>T, XM_047432094.1:c.2508G>T, XM_047432096.1:c.2508G>T, XM_047432086.1:c.2508G>T, XM_047432090.1:c.2508G>T, NM_001320835.1:c.2508G>T, XM_047432101.1:c.2508G>T, XM_047432103.1:c.2508G>T, XM_047432087.1:c.2508G>T, XM_047432091.1:c.2508G>T, XM_047432097.1:c.2508G>T, XM_047432088.1:c.2508G>T, XM_047432098.1:c.2508G>T, XM_047432092.1:c.2508G>T, NM_001376919.1:c.2508G>T, XM_047432095.1:c.2508G>T, XM_047432104.1:c.2508G>T, XM_047432100.1:c.2508G>T, NM_001376920.1:c.2508G>T, XM_047432099.1:c.2508G>T, XM_047432102.1:c.2508G>T, XM_047432105.1:c.960G>T, XM_047432106.1:c.2508G>T, XP_005254177.1:p.Met836Ile, NP_005839.3:p.Met836Ile, XP_011519458.1:p.Met836Ile, NP_001138295.1:p.Met836Ile, XP_047288045.1:p.Met836Ile, XP_047288049.1:p.Met836Ile, XP_047288050.1:p.Met836Ile, XP_047288052.1:p.Met836Ile, XP_047288042.1:p.Met836Ile, XP_047288046.1:p.Met836Ile, NP_001307764.1:p.Met836Ile, XP_047288057.1:p.Met836Ile, XP_047288059.1:p.Met836Ile, XP_047288043.1:p.Met836Ile, XP_047288047.1:p.Met836Ile, XP_047288053.1:p.Met836Ile, XP_047288044.1:p.Met836Ile, XP_047288054.1:p.Met836Ile, XP_047288048.1:p.Met836Ile, NP_001363848.1:p.Met836Ile, XP_047288051.1:p.Met836Ile, XP_047288060.1:p.Met836Ile, XP_047288056.1:p.Met836Ile, NP_001363849.1:p.Met836Ile, XP_047288055.1:p.Met836Ile, XP_047288058.1:p.Met836Ile, XP_047288061.1:p.Met320Ile, XP_047288062.1:p.Met836Ile

                        12.

                        rs1487776955 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:65660962 (GRCh38)
                          15:65953300 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:65660961:A:G
                          Gene:
                          SLC24A1 (Varview), DENND4A (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000019/5 (TOPMED)
                          G=0.000036/5 (GnomAD)
                          HGVS:
                          NC_000015.10:g.65660962A>G, NC_000015.9:g.65953300A>G, NG_031968.2:g.54558A>G, NM_001301033.2:c.*287A>G, XM_005254120.6:c.*889T>C, XM_005254120.5:c.*889T>C, XM_005254120.4:c.*889T>C, XM_005254120.3:c.*889T>C, NM_005848.4:c.*889T>C, NM_005848.3:c.*889T>C, XM_011522222.4:c.*287A>G, XM_011522222.3:c.*287A>G, XM_011522222.2:c.*287A>G, XM_011522222.1:c.*287A>G, NM_001144823.2:c.*889T>C, NM_001144823.1:c.*889T>C, XR_007064494.1:n.10090A>G, XM_047432089.1:c.*889T>C, XM_047432093.1:c.*889T>C, XM_047432094.1:c.*889T>C, XM_047432096.1:c.*889T>C, XM_047432086.1:c.*889T>C, XM_047432090.1:c.*889T>C, NM_001320835.1:c.*889T>C, XM_047432101.1:c.*889T>C, XM_047432103.1:c.*889T>C, XM_047432087.1:c.*889T>C, XM_047432091.1:c.*889T>C, XM_047432097.1:c.*889T>C, XM_047432088.1:c.*889T>C, XM_047432098.1:c.*889T>C, XM_047432092.1:c.*889T>C, NM_001376919.1:c.*889T>C, XM_047432095.1:c.*889T>C, XM_047432104.1:c.*889T>C, XM_047432100.1:c.*889T>C, NM_001376920.1:c.*889T>C, XM_047432099.1:c.*889T>C, XM_047432102.1:c.*889T>C, XM_047432105.1:c.*889T>C, XM_047433330.1:c.*641A>G, XM_047433333.1:c.*287A>G, XM_047433334.1:c.*287A>G, XM_047433338.1:c.*287A>G

                          13.

                          rs1487726825 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:65659583 (GRCh38)
                            15:65951921 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:65659582:C:T
                            Gene:
                            SLC24A1 (Varview), DENND4A (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000015.10:g.65659583C>T, NC_000015.9:g.65951921C>T, NG_031968.2:g.53179C>T, XM_005254120.6:c.*2268G>A, XM_005254120.5:c.*2268G>A, XM_005254120.3:c.*2268G>A, NM_005848.4:c.*2268G>A, NM_001144823.2:c.*2268G>A, XR_007064494.1:n.9065C>T, XM_047432089.1:c.*2268G>A, XM_047432093.1:c.*2268G>A, XM_047432094.1:c.*2268G>A, XM_047432096.1:c.*2268G>A, XM_047432086.1:c.*2268G>A, XM_047432090.1:c.*2268G>A, NM_001320835.1:c.*2268G>A, XM_047432101.1:c.*2268G>A, XM_047432103.1:c.*2268G>A, XM_047432087.1:c.*2268G>A, XM_047432091.1:c.*2268G>A, XM_047432097.1:c.*2268G>A, XM_047432088.1:c.*2268G>A, XM_047432098.1:c.*2268G>A, XM_047432092.1:c.*2268G>A, NM_001376919.1:c.*2268G>A, XM_047432095.1:c.*2268G>A, XM_047432104.1:c.*2268G>A, XM_047432100.1:c.*2268G>A, NM_001376920.1:c.*2268G>A, XM_047432099.1:c.*2268G>A, XM_047432102.1:c.*2268G>A, XM_047432105.1:c.*2268G>A

                            14.

                            rs1487643761 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GTTTTTTTTTTT>- [Show Flanks]
                              Chromosome:
                              15:65659322 (GRCh38)
                              15:65951660 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:65659321:GTTTTTTTTTTT:
                              Gene:
                              SLC24A1 (Varview), DENND4A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.00025/3 (ALFA)
                              -=0.00096/60 (GnomAD)
                              HGVS:
                              NC_000015.10:g.65659322_65659333del, NC_000015.9:g.65951660_65951671del, NG_031968.2:g.52918_52929del, XM_005254120.6:c.*2518_*2529del, XM_005254120.5:c.*2518_*2529del, XM_005254120.3:c.*2518_*2529del, NM_005848.4:c.*2518_*2529del, NM_001144823.2:c.*2518_*2529del, XR_007064494.1:n.8804_8815del, XM_047432089.1:c.*2518_*2529del, XM_047432093.1:c.*2518_*2529del, XM_047432094.1:c.*2518_*2529del, XM_047432096.1:c.*2518_*2529del, XM_047432086.1:c.*2518_*2529del, XM_047432090.1:c.*2518_*2529del, NM_001320835.1:c.*2518_*2529del, XM_047432101.1:c.*2518_*2529del, XM_047432103.1:c.*2518_*2529del, XM_047432087.1:c.*2518_*2529del, XM_047432091.1:c.*2518_*2529del, XM_047432097.1:c.*2518_*2529del, XM_047432088.1:c.*2518_*2529del, XM_047432098.1:c.*2518_*2529del, XM_047432092.1:c.*2518_*2529del, NM_001376919.1:c.*2518_*2529del, XM_047432095.1:c.*2518_*2529del, XM_047432104.1:c.*2518_*2529del, XM_047432100.1:c.*2518_*2529del, NM_001376920.1:c.*2518_*2529del, XM_047432099.1:c.*2518_*2529del, XM_047432102.1:c.*2518_*2529del, XM_047432105.1:c.*2518_*2529del

                              15.

                              rs1487221617 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                15:65669816 (GRCh38)
                                15:65962154 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:65669815:A:C
                                Gene:
                                DENND4A (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.65669816A>C, NC_000015.9:g.65962154A>C, XM_005254120.6:c.4750T>G, XM_005254120.5:c.4750T>G, XM_005254120.4:c.4750T>G, XM_005254120.3:c.4750T>G, XM_005254120.2:c.4750T>G, XM_005254120.1:c.4750T>G, NM_005848.4:c.4618T>G, NM_005848.3:c.4618T>G, NM_001144823.2:c.4747T>G, NM_001144823.1:c.4747T>G, XM_047432089.1:c.4750T>G, XM_047432093.1:c.4747T>G, XM_047432094.1:c.4750T>G, XM_047432096.1:c.4747T>G, XM_047432086.1:c.4750T>G, XM_047432090.1:c.4747T>G, NM_001320835.1:c.4750T>G, XM_047432101.1:c.4618T>G, XM_047432103.1:c.4618T>G, XM_047432087.1:c.4750T>G, XM_047432091.1:c.4747T>G, XM_047432097.1:c.4747T>G, XM_047432088.1:c.4750T>G, XM_047432098.1:c.4618T>G, XM_047432092.1:c.4747T>G, NM_001376919.1:c.4618T>G, XM_047432095.1:c.4747T>G, XM_047432104.1:c.4618T>G, XM_047432100.1:c.4618T>G, NM_001376920.1:c.4618T>G, XM_047432099.1:c.4618T>G, XM_047432102.1:c.4618T>G, XM_047432105.1:c.3202T>G, XP_005254177.1:p.Ser1584Ala, NP_005839.3:p.Ser1540Ala, NP_001138295.1:p.Ser1583Ala, XP_047288045.1:p.Ser1584Ala, XP_047288049.1:p.Ser1583Ala, XP_047288050.1:p.Ser1584Ala, XP_047288052.1:p.Ser1583Ala, XP_047288042.1:p.Ser1584Ala, XP_047288046.1:p.Ser1583Ala, NP_001307764.1:p.Ser1584Ala, XP_047288057.1:p.Ser1540Ala, XP_047288059.1:p.Ser1540Ala, XP_047288043.1:p.Ser1584Ala, XP_047288047.1:p.Ser1583Ala, XP_047288053.1:p.Ser1583Ala, XP_047288044.1:p.Ser1584Ala, XP_047288054.1:p.Ser1540Ala, XP_047288048.1:p.Ser1583Ala, NP_001363848.1:p.Ser1540Ala, XP_047288051.1:p.Ser1583Ala, XP_047288060.1:p.Ser1540Ala, XP_047288056.1:p.Ser1540Ala, NP_001363849.1:p.Ser1540Ala, XP_047288055.1:p.Ser1540Ala, XP_047288058.1:p.Ser1540Ala, XP_047288061.1:p.Ser1068Ala

                                16.

                                rs1487098348 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:65752616 (GRCh38)
                                  15:66044954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:65752615:G:A
                                  Gene:
                                  DENND4A (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.65752616G>A, NC_000015.9:g.66044954G>A, XM_005254120.6:c.324C>T, XM_005254120.5:c.324C>T, XM_005254120.4:c.324C>T, XM_005254120.3:c.324C>T, XM_005254120.2:c.324C>T, XM_005254120.1:c.324C>T, NM_005848.4:c.324C>T, NM_005848.3:c.324C>T, XM_011521156.4:c.324C>T, XM_011521156.3:c.324C>T, XM_011521156.2:c.324C>T, XM_011521156.1:c.324C>T, NM_001144823.2:c.324C>T, NM_001144823.1:c.324C>T, XM_047432089.1:c.324C>T, XM_047432093.1:c.324C>T, XM_047432094.1:c.324C>T, XM_047432096.1:c.324C>T, XM_047432086.1:c.324C>T, XM_047432090.1:c.324C>T, NM_001320835.1:c.324C>T, XM_047432101.1:c.324C>T, XM_047432103.1:c.324C>T, XM_047432087.1:c.324C>T, XM_047432091.1:c.324C>T, XM_047432097.1:c.324C>T, XM_047432088.1:c.324C>T, XM_047432098.1:c.324C>T, XM_047432092.1:c.324C>T, NM_001376919.1:c.324C>T, XM_047432095.1:c.324C>T, XM_047432104.1:c.324C>T, XM_047432100.1:c.324C>T, NM_001376920.1:c.324C>T, XM_047432099.1:c.324C>T, XM_047432102.1:c.324C>T, XM_047432106.1:c.324C>T

                                  17.

                                  rs1486788860 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    15:65731670 (GRCh38)
                                    15:66024008 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:65731669:G:C
                                    Gene:
                                    DENND4A (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000015.10:g.65731670G>C, NC_000015.9:g.66024008G>C, XM_005254120.6:c.1138C>G, XM_005254120.5:c.1138C>G, XM_005254120.4:c.1138C>G, XM_005254120.3:c.1138C>G, XM_005254120.2:c.1138C>G, XM_005254120.1:c.1138C>G, NM_005848.4:c.1138C>G, NM_005848.3:c.1138C>G, XM_011521156.4:c.1138C>G, XM_011521156.3:c.1138C>G, XM_011521156.2:c.1138C>G, XM_011521156.1:c.1138C>G, NM_001144823.2:c.1138C>G, NM_001144823.1:c.1138C>G, XM_047432089.1:c.1138C>G, XM_047432093.1:c.1138C>G, XM_047432094.1:c.1138C>G, XM_047432096.1:c.1138C>G, XM_047432086.1:c.1138C>G, XM_047432090.1:c.1138C>G, NM_001320835.1:c.1138C>G, XM_047432101.1:c.1138C>G, XM_047432103.1:c.1138C>G, XM_047432087.1:c.1138C>G, XM_047432091.1:c.1138C>G, XM_047432097.1:c.1138C>G, XM_047432088.1:c.1138C>G, XM_047432098.1:c.1138C>G, XM_047432092.1:c.1138C>G, NM_001376919.1:c.1138C>G, XM_047432095.1:c.1138C>G, XM_047432104.1:c.1138C>G, XM_047432100.1:c.1138C>G, NM_001376920.1:c.1138C>G, XM_047432099.1:c.1138C>G, XM_047432102.1:c.1138C>G, XM_047432106.1:c.1138C>G, XP_005254177.1:p.Gln380Glu, NP_005839.3:p.Gln380Glu, XP_011519458.1:p.Gln380Glu, NP_001138295.1:p.Gln380Glu, XP_047288045.1:p.Gln380Glu, XP_047288049.1:p.Gln380Glu, XP_047288050.1:p.Gln380Glu, XP_047288052.1:p.Gln380Glu, XP_047288042.1:p.Gln380Glu, XP_047288046.1:p.Gln380Glu, NP_001307764.1:p.Gln380Glu, XP_047288057.1:p.Gln380Glu, XP_047288059.1:p.Gln380Glu, XP_047288043.1:p.Gln380Glu, XP_047288047.1:p.Gln380Glu, XP_047288053.1:p.Gln380Glu, XP_047288044.1:p.Gln380Glu, XP_047288054.1:p.Gln380Glu, XP_047288048.1:p.Gln380Glu, NP_001363848.1:p.Gln380Glu, XP_047288051.1:p.Gln380Glu, XP_047288060.1:p.Gln380Glu, XP_047288056.1:p.Gln380Glu, NP_001363849.1:p.Gln380Glu, XP_047288055.1:p.Gln380Glu, XP_047288058.1:p.Gln380Glu, XP_047288062.1:p.Gln380Glu

                                    18.

                                    rs1486645608 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:65659830 (GRCh38)
                                      15:65952168 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:65659829:C:T
                                      Gene:
                                      SLC24A1 (Varview), DENND4A (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.65659830C>T, NC_000015.9:g.65952168C>T, NG_031968.2:g.53426C>T, XM_005254120.6:c.*2021G>A, XM_005254120.5:c.*2021G>A, XM_005254120.4:c.*2021G>A, XM_005254120.3:c.*2021G>A, NM_005848.4:c.*2021G>A, NM_001144823.2:c.*2021G>A, XR_007064494.1:n.9312C>T, XM_047432089.1:c.*2021G>A, XM_047432093.1:c.*2021G>A, XM_047432094.1:c.*2021G>A, XM_047432096.1:c.*2021G>A, XM_047432086.1:c.*2021G>A, XM_047432090.1:c.*2021G>A, NM_001320835.1:c.*2021G>A, XM_047432101.1:c.*2021G>A, XM_047432103.1:c.*2021G>A, XM_047432087.1:c.*2021G>A, XM_047432091.1:c.*2021G>A, XM_047432097.1:c.*2021G>A, XM_047432088.1:c.*2021G>A, XM_047432098.1:c.*2021G>A, XM_047432092.1:c.*2021G>A, NM_001376919.1:c.*2021G>A, XM_047432095.1:c.*2021G>A, XM_047432104.1:c.*2021G>A, XM_047432100.1:c.*2021G>A, NM_001376920.1:c.*2021G>A, XM_047432099.1:c.*2021G>A, XM_047432102.1:c.*2021G>A, XM_047432105.1:c.*2021G>A

                                      19.

                                      rs1486357272 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:65752466 (GRCh38)
                                        15:66044804 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:65752465:G:A
                                        Gene:
                                        DENND4A (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000015.10:g.65752466G>A, NC_000015.9:g.66044804G>A, XM_005254120.6:c.474C>T, XM_005254120.5:c.474C>T, XM_005254120.4:c.474C>T, XM_005254120.3:c.474C>T, XM_005254120.2:c.474C>T, XM_005254120.1:c.474C>T, NM_005848.4:c.474C>T, NM_005848.3:c.474C>T, XM_011521156.4:c.474C>T, XM_011521156.3:c.474C>T, XM_011521156.2:c.474C>T, XM_011521156.1:c.474C>T, NM_001144823.2:c.474C>T, NM_001144823.1:c.474C>T, XM_047432089.1:c.474C>T, XM_047432093.1:c.474C>T, XM_047432094.1:c.474C>T, XM_047432096.1:c.474C>T, XM_047432086.1:c.474C>T, XM_047432090.1:c.474C>T, NM_001320835.1:c.474C>T, XM_047432101.1:c.474C>T, XM_047432103.1:c.474C>T, XM_047432087.1:c.474C>T, XM_047432091.1:c.474C>T, XM_047432097.1:c.474C>T, XM_047432088.1:c.474C>T, XM_047432098.1:c.474C>T, XM_047432092.1:c.474C>T, NM_001376919.1:c.474C>T, XM_047432095.1:c.474C>T, XM_047432104.1:c.474C>T, XM_047432100.1:c.474C>T, NM_001376920.1:c.474C>T, XM_047432099.1:c.474C>T, XM_047432102.1:c.474C>T, XM_047432106.1:c.474C>T

                                        20.

                                        rs1486320314 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:65661369 (GRCh38)
                                          15:65953707 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:65661368:T:C
                                          Gene:
                                          SLC24A1 (Varview), DENND4A (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.65661369T>C, NC_000015.9:g.65953707T>C, NG_031968.2:g.54965T>C, XM_005254120.6:c.*482A>G, XM_005254120.5:c.*482A>G, XM_005254120.4:c.*482A>G, XM_005254120.3:c.*482A>G, XM_005254120.2:c.*482A>G, XM_005254120.1:c.*482A>G, NM_005848.4:c.*482A>G, NM_005848.3:c.*482A>G, NM_001144823.2:c.*482A>G, NM_001144823.1:c.*482A>G, XM_047432089.1:c.*482A>G, XM_047432093.1:c.*482A>G, XM_047432094.1:c.*482A>G, XM_047432096.1:c.*482A>G, XM_047432086.1:c.*482A>G, XM_047432090.1:c.*482A>G, NM_001320835.1:c.*482A>G, XM_047432101.1:c.*482A>G, XM_047432103.1:c.*482A>G, XM_047432087.1:c.*482A>G, XM_047432091.1:c.*482A>G, XM_047432097.1:c.*482A>G, XM_047432088.1:c.*482A>G, XM_047432098.1:c.*482A>G, XM_047432092.1:c.*482A>G, NM_001376919.1:c.*482A>G, XM_047432095.1:c.*482A>G, XM_047432104.1:c.*482A>G, XM_047432100.1:c.*482A>G, NM_001376920.1:c.*482A>G, XM_047432099.1:c.*482A>G, XM_047432102.1:c.*482A>G, XM_047432105.1:c.*482A>G

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