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1.

rs1486546292 has merged into rs537870275 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    X:22271967 (GRCh38)
    X:22290084 (GRCh37)
    Canonical SPDI:
    NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:22271960:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    CBLL2 (Varview), PTCHD1-AS (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTT=0./0 (ALFA)
    -=0.463/1748 (1000Genomes)
    HGVS:
    NC_000023.11:g.22271967_22272000del, NC_000023.11:g.22271970_22272000del, NC_000023.11:g.22271971_22272000del, NC_000023.11:g.22271972_22272000del, NC_000023.11:g.22271973_22272000del, NC_000023.11:g.22271974_22272000del, NC_000023.11:g.22271975_22272000del, NC_000023.11:g.22271976_22272000del, NC_000023.11:g.22271977_22272000del, NC_000023.11:g.22271978_22272000del, NC_000023.11:g.22271979_22272000del, NC_000023.11:g.22271980_22272000del, NC_000023.11:g.22271981_22272000del, NC_000023.11:g.22271982_22272000del, NC_000023.11:g.22271983_22272000del, NC_000023.11:g.22271984_22272000del, NC_000023.11:g.22271985_22272000del, NC_000023.11:g.22271986_22272000del, NC_000023.11:g.22271987_22272000del, NC_000023.11:g.22271988_22272000del, NC_000023.11:g.22271989_22272000del, NC_000023.11:g.22271990_22272000del, NC_000023.11:g.22271991_22272000del, NC_000023.11:g.22271992_22272000del, NC_000023.11:g.22271993_22272000del, NC_000023.11:g.22271994_22272000del, NC_000023.11:g.22271995_22272000del, NC_000023.11:g.22271996_22272000del, NC_000023.11:g.22271997_22272000del, NC_000023.11:g.22271998_22272000del, NC_000023.11:g.22271999_22272000del, NC_000023.11:g.22272000del, NC_000023.11:g.22272000dup, NC_000023.11:g.22271999_22272000dup, NC_000023.11:g.22271998_22272000dup, NC_000023.11:g.22271997_22272000dup, NC_000023.11:g.22271996_22272000dup, NC_000023.11:g.22271995_22272000dup, NC_000023.11:g.22271994_22272000dup, NC_000023.11:g.22271993_22272000dup, NC_000023.11:g.22271992_22272000dup, NC_000023.11:g.22271991_22272000dup, NC_000023.11:g.22271990_22272000dup, NC_000023.11:g.22271989_22272000dup, NC_000023.11:g.22271988_22272000dup, NC_000023.11:g.22271987_22272000dup, NC_000023.11:g.22271986_22272000dup, NC_000023.11:g.22271985_22272000dup, NC_000023.11:g.22271984_22272000dup, NC_000023.11:g.22271983_22272000dup, NC_000023.11:g.22271982_22272000dup, NC_000023.11:g.22271981_22272000dup, NC_000023.11:g.22271980_22272000dup, NC_000023.11:g.22271979_22272000dup, NC_000023.11:g.22271978_22272000dup, NC_000023.11:g.22271977_22272000dup, NC_000023.11:g.22271976_22272000dup, NC_000023.11:g.22271975_22272000dup, NC_000023.11:g.22271974_22272000dup, NC_000023.11:g.22271973_22272000dup, NC_000023.11:g.22271972_22272000dup, NC_000023.11:g.22271971_22272000dup, NC_000023.11:g.22271970_22272000dup, NC_000023.11:g.22271969_22272000dup, NC_000023.11:g.22271968_22272000dup, NC_000023.11:g.22271967_22272000dup, NC_000023.11:g.22271963_22272000dup, NC_000023.11:g.22272000_22272001insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.22290084_22290117del, NC_000023.10:g.22290087_22290117del, NC_000023.10:g.22290088_22290117del, NC_000023.10:g.22290089_22290117del, NC_000023.10:g.22290090_22290117del, NC_000023.10:g.22290091_22290117del, NC_000023.10:g.22290092_22290117del, NC_000023.10:g.22290093_22290117del, NC_000023.10:g.22290094_22290117del, NC_000023.10:g.22290095_22290117del, NC_000023.10:g.22290096_22290117del, NC_000023.10:g.22290097_22290117del, NC_000023.10:g.22290098_22290117del, NC_000023.10:g.22290099_22290117del, NC_000023.10:g.22290100_22290117del, NC_000023.10:g.22290101_22290117del, NC_000023.10:g.22290102_22290117del, NC_000023.10:g.22290103_22290117del, NC_000023.10:g.22290104_22290117del, NC_000023.10:g.22290105_22290117del, NC_000023.10:g.22290106_22290117del, NC_000023.10:g.22290107_22290117del, NC_000023.10:g.22290108_22290117del, NC_000023.10:g.22290109_22290117del, NC_000023.10:g.22290110_22290117del, NC_000023.10:g.22290111_22290117del, NC_000023.10:g.22290112_22290117del, NC_000023.10:g.22290113_22290117del, NC_000023.10:g.22290114_22290117del, NC_000023.10:g.22290115_22290117del, NC_000023.10:g.22290116_22290117del, NC_000023.10:g.22290117del, NC_000023.10:g.22290117dup, NC_000023.10:g.22290116_22290117dup, NC_000023.10:g.22290115_22290117dup, NC_000023.10:g.22290114_22290117dup, NC_000023.10:g.22290113_22290117dup, NC_000023.10:g.22290112_22290117dup, NC_000023.10:g.22290111_22290117dup, NC_000023.10:g.22290110_22290117dup, NC_000023.10:g.22290109_22290117dup, NC_000023.10:g.22290108_22290117dup, NC_000023.10:g.22290107_22290117dup, NC_000023.10:g.22290106_22290117dup, NC_000023.10:g.22290105_22290117dup, NC_000023.10:g.22290104_22290117dup, NC_000023.10:g.22290103_22290117dup, NC_000023.10:g.22290102_22290117dup, NC_000023.10:g.22290101_22290117dup, NC_000023.10:g.22290100_22290117dup, NC_000023.10:g.22290099_22290117dup, NC_000023.10:g.22290098_22290117dup, NC_000023.10:g.22290097_22290117dup, NC_000023.10:g.22290096_22290117dup, NC_000023.10:g.22290095_22290117dup, NC_000023.10:g.22290094_22290117dup, NC_000023.10:g.22290093_22290117dup, NC_000023.10:g.22290092_22290117dup, NC_000023.10:g.22290091_22290117dup, NC_000023.10:g.22290090_22290117dup, NC_000023.10:g.22290089_22290117dup, NC_000023.10:g.22290088_22290117dup, NC_000023.10:g.22290087_22290117dup, NC_000023.10:g.22290086_22290117dup, NC_000023.10:g.22290085_22290117dup, NC_000023.10:g.22290084_22290117dup, NC_000023.10:g.22290080_22290117dup, NC_000023.10:g.22290117_22290118insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021438.1:g.4025_4058del, NG_021438.1:g.4028_4058del, NG_021438.1:g.4029_4058del, NG_021438.1:g.4030_4058del, NG_021438.1:g.4031_4058del, NG_021438.1:g.4032_4058del, NG_021438.1:g.4033_4058del, NG_021438.1:g.4034_4058del, NG_021438.1:g.4035_4058del, NG_021438.1:g.4036_4058del, NG_021438.1:g.4037_4058del, NG_021438.1:g.4038_4058del, NG_021438.1:g.4039_4058del, NG_021438.1:g.4040_4058del, NG_021438.1:g.4041_4058del, NG_021438.1:g.4042_4058del, NG_021438.1:g.4043_4058del, NG_021438.1:g.4044_4058del, NG_021438.1:g.4045_4058del, NG_021438.1:g.4046_4058del, NG_021438.1:g.4047_4058del, NG_021438.1:g.4048_4058del, NG_021438.1:g.4049_4058del, NG_021438.1:g.4050_4058del, NG_021438.1:g.4051_4058del, NG_021438.1:g.4052_4058del, NG_021438.1:g.4053_4058del, NG_021438.1:g.4054_4058del, NG_021438.1:g.4055_4058del, NG_021438.1:g.4056_4058del, NG_021438.1:g.4057_4058del, NG_021438.1:g.4058del, NG_021438.1:g.4058dup, NG_021438.1:g.4057_4058dup, NG_021438.1:g.4056_4058dup, NG_021438.1:g.4055_4058dup, NG_021438.1:g.4054_4058dup, NG_021438.1:g.4053_4058dup, NG_021438.1:g.4052_4058dup, NG_021438.1:g.4051_4058dup, NG_021438.1:g.4050_4058dup, NG_021438.1:g.4049_4058dup, NG_021438.1:g.4048_4058dup, NG_021438.1:g.4047_4058dup, NG_021438.1:g.4046_4058dup, NG_021438.1:g.4045_4058dup, NG_021438.1:g.4044_4058dup, NG_021438.1:g.4043_4058dup, NG_021438.1:g.4042_4058dup, NG_021438.1:g.4041_4058dup, NG_021438.1:g.4040_4058dup, NG_021438.1:g.4039_4058dup, NG_021438.1:g.4038_4058dup, NG_021438.1:g.4037_4058dup, NG_021438.1:g.4036_4058dup, NG_021438.1:g.4035_4058dup, NG_021438.1:g.4034_4058dup, NG_021438.1:g.4033_4058dup, NG_021438.1:g.4032_4058dup, NG_021438.1:g.4031_4058dup, NG_021438.1:g.4030_4058dup, NG_021438.1:g.4029_4058dup, NG_021438.1:g.4028_4058dup, NG_021438.1:g.4027_4058dup, NG_021438.1:g.4026_4058dup, NG_021438.1:g.4025_4058dup, NG_021438.1:g.4021_4058dup, NG_021438.1:g.4058_4059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1486080490 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      X:22271633 (GRCh38)
      X:22289751 (GRCh37)
      Canonical SPDI:
      NC_000023.11:22271633:T:TT
      Gene:
      CBLL2 (Varview), PTCHD1-AS (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000034/9 (TOPMED)
      T=0.000039/4 (GnomAD)
      T=0.000208/1 (1000Genomes)
      HGVS:

      3.

      rs1485745142 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        X:22274335 (GRCh38)
        X:22292452 (GRCh37)
        Canonical SPDI:
        NC_000023.11:22274334:T:A
        Gene:
        CBLL2 (Varview), PTCHD1-AS (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        A=0.00001/1 (GnomAD)
        HGVS:

        4.

        rs1485402803 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:22272320 (GRCh38)
          X:22290437 (GRCh37)
          Canonical SPDI:
          NC_000023.11:22272319:G:A
          Gene:
          CBLL2 (Varview), PTCHD1-AS (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.00001/1 (GnomAD)
          HGVS:

          5.

          rs1484737107 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:22271480 (GRCh38)
            X:22289597 (GRCh37)
            Canonical SPDI:
            NC_000023.11:22271479:A:G
            Gene:
            CBLL2 (Varview), PTCHD1-AS (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000019/2 (GnomAD)
            HGVS:

            6.

            rs1484412868 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:22273226 (GRCh38)
              X:22291343 (GRCh37)
              Canonical SPDI:
              NC_000023.11:22273225:T:C
              Gene:
              CBLL2 (Varview), PTCHD1-AS (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000005/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1482923927 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:22271801 (GRCh38)
                X:22289918 (GRCh37)
                Canonical SPDI:
                NC_000023.11:22271800:A:G
                Gene:
                CBLL2 (Varview), PTCHD1-AS (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:

                8.

                rs1482115831 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:22271807 (GRCh38)
                  X:22289924 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:22271806:T:C
                  Gene:
                  CBLL2 (Varview), PTCHD1-AS (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.00001/1 (GnomAD)
                  HGVS:

                  9.

                  rs1481782304 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:22271925 (GRCh38)
                    X:22290042 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:22271924:G:A
                    Gene:
                    CBLL2 (Varview), PTCHD1-AS (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000142/2 (ALFA)
                    A=0.000035/3 (GnomAD)
                    A=0.000045/12 (TOPMED)
                    HGVS:

                    10.

                    rs1481771242 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:22271238 (GRCh38)
                      X:22289355 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:22271237:T:C
                      Gene:
                      CBLL2 (Varview), PTCHD1-AS (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.00001/1 (GnomAD)
                      HGVS:

                      11.

                      rs1479812229 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:22272441 (GRCh38)
                        X:22290558 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:22272440:T:C
                        Gene:
                        CBLL2 (Varview), PTCHD1-AS (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000015/4 (TOPMED)
                        HGVS:

                        12.

                        rs1479031388 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          X:22274817 (GRCh38)
                          X:22292934 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:22274815:TTT:T
                          Gene:
                          CBLL2 (Varview), PTCHD1-AS (Varview)
                          Functional Consequence:
                          intron_variant,500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1478948486 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            X:22273460 (GRCh38)
                            X:22291577 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:22273459:A:C,NC_000023.11:22273459:A:G
                            Gene:
                            CBLL2 (Varview), PTCHD1-AS (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            C=0.000005/1 (GnomAD_exomes)
                            G=0.00001/1 (GnomAD)
                            HGVS:

                            14.

                            rs1478533779 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              X:22274478 (GRCh38)
                              X:22292596 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:22274478::A
                              Gene:
                              CBLL2 (Varview), PTCHD1-AS (Varview)
                              Functional Consequence:
                              intron_variant,500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.00001/1 (GnomAD)
                              HGVS:

                              15.

                              rs1477667652 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:22273971 (GRCh38)
                                X:22292088 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:22273970:T:C
                                Gene:
                                CBLL2 (Varview), PTCHD1-AS (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000038/7 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1476965429 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:22274688 (GRCh38)
                                  X:22292805 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:22274687:A:G
                                  Gene:
                                  CBLL2 (Varview), PTCHD1-AS (Varview)
                                  Functional Consequence:
                                  intron_variant,500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.00001/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1476684127 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    X:22273473 (GRCh38)
                                    X:22291590 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:22273472:A:C
                                    Gene:
                                    CBLL2 (Varview), PTCHD1-AS (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000005/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1476466156 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:22271335 (GRCh38)
                                      X:22289452 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:22271334:A:G
                                      Gene:
                                      CBLL2 (Varview), PTCHD1-AS (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1475632076 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:22272068 (GRCh38)
                                        X:22290185 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:22272067:T:C
                                        Gene:
                                        CBLL2 (Varview), PTCHD1-AS (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000084/1 (ALFA)
                                        C=0.000019/5 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1475395969 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          X:22271514 (GRCh38)
                                          X:22289631 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:22271513:G:C
                                          Gene:
                                          CBLL2 (Varview), PTCHD1-AS (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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