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1.

rs1491036565 has merged into rs56675642 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    16:66395510 (GRCh38)
    16:66429413 (GRCh37)
    Canonical SPDI:
    NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:66395503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    CDH5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTT=0./0 (ALFA)
    -=0./0 (GENOME_DK)
    HGVS:
    NC_000016.10:g.66395510_66395524del, NC_000016.10:g.66395513_66395524del, NC_000016.10:g.66395515_66395524del, NC_000016.10:g.66395517_66395524del, NC_000016.10:g.66395518_66395524del, NC_000016.10:g.66395519_66395524del, NC_000016.10:g.66395520_66395524del, NC_000016.10:g.66395521_66395524del, NC_000016.10:g.66395522_66395524del, NC_000016.10:g.66395523_66395524del, NC_000016.10:g.66395524del, NC_000016.10:g.66395524dup, NC_000016.10:g.66395504_66395524T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395504_66395524T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395523_66395524dup, NC_000016.10:g.66395504_66395524T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395504_66395524T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395504_66395524T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395504_66395524T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395522_66395524dup, NC_000016.10:g.66395521_66395524dup, NC_000016.10:g.66395520_66395524dup, NC_000016.10:g.66395504_66395524T[26]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395504_66395524T[26]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395519_66395524dup, NC_000016.10:g.66395518_66395524dup, NC_000016.10:g.66395517_66395524dup, NC_000016.10:g.66395516_66395524dup, NC_000016.10:g.66395515_66395524dup, NC_000016.10:g.66395514_66395524dup, NC_000016.10:g.66395513_66395524dup, NC_000016.10:g.66395504_66395524T[33]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395512_66395524dup, NC_000016.10:g.66395511_66395524dup, NC_000016.10:g.66395510_66395524dup, NC_000016.10:g.66395509_66395524dup, NC_000016.10:g.66395508_66395524dup, NC_000016.10:g.66395507_66395524dup, NC_000016.10:g.66395506_66395524dup, NC_000016.10:g.66395505_66395524dup, NC_000016.10:g.66395504_66395524dup, NC_000016.10:g.66395504_66395524T[42]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395504_66395524T[62]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.66395524_66395525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429413_66429427del, NC_000016.9:g.66429416_66429427del, NC_000016.9:g.66429418_66429427del, NC_000016.9:g.66429420_66429427del, NC_000016.9:g.66429421_66429427del, NC_000016.9:g.66429422_66429427del, NC_000016.9:g.66429423_66429427del, NC_000016.9:g.66429424_66429427del, NC_000016.9:g.66429425_66429427del, NC_000016.9:g.66429426_66429427del, NC_000016.9:g.66429427del, NC_000016.9:g.66429427dup, NC_000016.9:g.66429407_66429427T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429407_66429427T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429426_66429427dup, NC_000016.9:g.66429407_66429427T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429407_66429427T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429407_66429427T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429407_66429427T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429425_66429427dup, NC_000016.9:g.66429424_66429427dup, NC_000016.9:g.66429423_66429427dup, NC_000016.9:g.66429407_66429427T[26]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429407_66429427T[26]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429422_66429427dup, NC_000016.9:g.66429421_66429427dup, NC_000016.9:g.66429420_66429427dup, NC_000016.9:g.66429419_66429427dup, NC_000016.9:g.66429418_66429427dup, NC_000016.9:g.66429417_66429427dup, NC_000016.9:g.66429416_66429427dup, NC_000016.9:g.66429407_66429427T[33]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429415_66429427dup, NC_000016.9:g.66429414_66429427dup, NC_000016.9:g.66429413_66429427dup, NC_000016.9:g.66429412_66429427dup, NC_000016.9:g.66429411_66429427dup, NC_000016.9:g.66429410_66429427dup, NC_000016.9:g.66429409_66429427dup, NC_000016.9:g.66429408_66429427dup, NC_000016.9:g.66429407_66429427dup, NC_000016.9:g.66429407_66429427T[42]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429407_66429427T[62]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.66429427_66429428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1490928469 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      16:66389888 (GRCh38)
      16:66423791 (GRCh37)
      Canonical SPDI:
      NC_000016.10:66389887:C:G
      Gene:
      CDH5 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:

      3.

      rs1490818441 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:66380469 (GRCh38)
        16:66414372 (GRCh37)
        Canonical SPDI:
        NC_000016.10:66380468:A:G
        Gene:
        CDH5 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00067/3 (ALFA)
        G=0.00291/49 (TOMMO)
        G=0.00514/15 (KOREAN)
        HGVS:

        4.

        rs1490487581 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:66366441 (GRCh38)
          16:66400344 (GRCh37)
          Canonical SPDI:
          NC_000016.10:66366440:G:A,NC_000016.10:66366440:G:T
          Gene:
          CDH5 (Varview), LOC105371318 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:

          5.

          rs1490192885 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            16:66380440 (GRCh38)
            16:66414343 (GRCh37)
            Canonical SPDI:
            NC_000016.10:66380439:G:A,NC_000016.10:66380439:G:T
            Gene:
            CDH5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.00007/1 (ALFA)
            HGVS:

            6.

            rs1490139480 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:66404569 (GRCh38)
              16:66438472 (GRCh37)
              Canonical SPDI:
              NC_000016.10:66404568:T:C
              Gene:
              CDH5 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1490000275 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                16:66381601 (GRCh38)
                16:66415504 (GRCh37)
                Canonical SPDI:
                NC_000016.10:66381600:A:T
                Gene:
                CDH5 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1489993850 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:66366048 (GRCh38)
                  16:66399951 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:66366047:G:A
                  Gene:
                  CDH5 (Varview), LOC105371318 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1489976936 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:66404031 (GRCh38)
                    16:66437934 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:66404030:G:A
                    Gene:
                    CDH5 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0./0 (GnomAD)
                    A=0.000019/5 (TOPMED)
                    HGVS:

                    10.

                    rs1489943310 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      16:66366823 (GRCh38)
                      16:66400726 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:66366822:G:T
                      Gene:
                      CDH5 (Varview), LOC105371318 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1489861673 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TCACACAC>- [Show Flanks]
                        Chromosome:
                        16:66386755 (GRCh38)
                        16:66420658 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:66386743:CACTCACACACTCACACAC:CACTCACACAC
                        Gene:
                        CDH5 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CACTCACACAC=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1489827600 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          16:66381255 (GRCh38)
                          16:66415158 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:66381254:T:A,NC_000016.10:66381254:T:C
                          Gene:
                          CDH5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1489824493 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            16:66395290 (GRCh38)
                            16:66429193 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:66395289:G:C,NC_000016.10:66395289:G:T
                            Gene:
                            CDH5 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1489802383 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              16:66380408 (GRCh38)
                              16:66414311 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:66380407:C:A,NC_000016.10:66380407:C:G
                              Gene:
                              CDH5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00397/47 (ALFA)
                              HGVS:

                              15.

                              rs1489790736 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                16:66365957 (GRCh38)
                                16:66399860 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:66365956:C:A,NC_000016.10:66365956:C:T
                                Gene:
                                CDH5 (Varview), LOC105371318 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1489618870 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  16:66366731 (GRCh38)
                                  16:66400634 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:66366730:C:A
                                  Gene:
                                  CDH5 (Varview), LOC105371318 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489611257 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    16:66379672 (GRCh38)
                                    16:66413575 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:66379671:G:T
                                    Gene:
                                    CDH5 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489586336 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:66375835 (GRCh38)
                                      16:66409738 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:66375834:C:T
                                      Gene:
                                      CDH5 (Varview), LOC105371318 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489552716 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:66403988 (GRCh38)
                                        16:66437891 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:66403987:A:G
                                        Gene:
                                        CDH5 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489544296 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          16:66383971 (GRCh38)
                                          16:66417874 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:66383970:C:A
                                          Gene:
                                          CDH5 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000026/7 (TOPMED)
                                          A=0.00005/7 (GnomAD)
                                          HGVS:

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