Links from Gene
Items: 1 to 20 of 22246
2.
rs1491539256 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:10137055
(GRCh38)
X:10105095
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10137054:AA:
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0001/3
(GnomAD)
-=0.00042/2
(1000Genomes)
- HGVS:
3.
rs1491455202 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- X:10058709
(GRCh38)
X:10026749
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10058708:CA:
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00043/4
(TOMMO)
- HGVS:
4.
rs1491383967 has merged into rs75349014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:10073989
(GRCh38)
X:10042029
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10073980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.05536/209
(1000Genomes)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000023.11:g.10073989_10073993del, NC_000023.11:g.10073990_10073993del, NC_000023.11:g.10073991_10073993del, NC_000023.11:g.10073992_10073993del, NC_000023.11:g.10073993del, NC_000023.11:g.10073993dup, NC_000023.11:g.10073992_10073993dup, NC_000023.11:g.10073991_10073993dup, NC_000023.11:g.10073990_10073993dup, NC_000023.11:g.10073989_10073993dup, NC_000023.11:g.10073988_10073993dup, NC_000023.11:g.10073987_10073993dup, NC_000023.11:g.10073986_10073993dup, NC_000023.11:g.10073985_10073993dup, NC_000023.11:g.10073984_10073993dup, NC_000023.11:g.10073983_10073993dup, NC_000023.11:g.10073982_10073993dup, NC_000023.11:g.10073981_10073993dup, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTT, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTTT, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTTTT, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTTTTT, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.10073993_10073994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.10042029_10042033del, NC_000023.10:g.10042030_10042033del, NC_000023.10:g.10042031_10042033del, NC_000023.10:g.10042032_10042033del, NC_000023.10:g.10042033del, NC_000023.10:g.10042033dup, NC_000023.10:g.10042032_10042033dup, NC_000023.10:g.10042031_10042033dup, NC_000023.10:g.10042030_10042033dup, NC_000023.10:g.10042029_10042033dup, NC_000023.10:g.10042028_10042033dup, NC_000023.10:g.10042027_10042033dup, NC_000023.10:g.10042026_10042033dup, NC_000023.10:g.10042025_10042033dup, NC_000023.10:g.10042024_10042033dup, NC_000023.10:g.10042023_10042033dup, NC_000023.10:g.10042022_10042033dup, NC_000023.10:g.10042021_10042033dup, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTT, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTTT, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTTTT, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTTTTT, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.10042033_10042034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021467.2:g.63235_63239del, NG_021467.2:g.63236_63239del, NG_021467.2:g.63237_63239del, NG_021467.2:g.63238_63239del, NG_021467.2:g.63239del, NG_021467.2:g.63239dup, NG_021467.2:g.63238_63239dup, NG_021467.2:g.63237_63239dup, NG_021467.2:g.63236_63239dup, NG_021467.2:g.63235_63239dup, NG_021467.2:g.63234_63239dup, NG_021467.2:g.63233_63239dup, NG_021467.2:g.63232_63239dup, NG_021467.2:g.63231_63239dup, NG_021467.2:g.63230_63239dup, NG_021467.2:g.63229_63239dup, NG_021467.2:g.63228_63239dup, NG_021467.2:g.63227_63239dup, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTT, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTTT, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTTTT, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTTTTT, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTTTTTTTTTT, NG_021467.2:g.63239_63240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491250219 has merged into rs987820661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- X:10024426
(GRCh38)
X:9992466
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10024414:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000023.11:10024414:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
9.
rs1491188612 has merged into rs56369973 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:10058721
(GRCh38)
X:10026761
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10058709:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.10058721_10058749del, NC_000023.11:g.10058723_10058749del, NC_000023.11:g.10058724_10058749del, NC_000023.11:g.10058725_10058749del, NC_000023.11:g.10058726_10058749del, NC_000023.11:g.10058727_10058749del, NC_000023.11:g.10058728_10058749del, NC_000023.11:g.10058729_10058749del, NC_000023.11:g.10058730_10058749del, NC_000023.11:g.10058731_10058749del, NC_000023.11:g.10058732_10058749del, NC_000023.11:g.10058733_10058749del, NC_000023.11:g.10058734_10058749del, NC_000023.11:g.10058735_10058749del, NC_000023.11:g.10058736_10058749del, NC_000023.11:g.10058737_10058749del, NC_000023.11:g.10058738_10058749del, NC_000023.11:g.10058739_10058749del, NC_000023.11:g.10058740_10058749del, NC_000023.11:g.10058741_10058749del, NC_000023.11:g.10058742_10058749del, NC_000023.11:g.10058743_10058749del, NC_000023.11:g.10058744_10058749del, NC_000023.11:g.10058745_10058749del, NC_000023.11:g.10058746_10058749del, NC_000023.11:g.10058747_10058749del, NC_000023.11:g.10058748_10058749del, NC_000023.11:g.10058749del, NC_000023.11:g.10058749dup, NC_000023.11:g.10058748_10058749dup, NC_000023.11:g.10058747_10058749dup, NC_000023.11:g.10058746_10058749dup, NC_000023.11:g.10058745_10058749dup, NC_000023.11:g.10058744_10058749dup, NC_000023.11:g.10058743_10058749dup, NC_000023.11:g.10058739_10058749dup, NC_000023.11:g.10058738_10058749dup, NC_000023.11:g.10058731_10058749dup, NC_000023.11:g.10058730_10058749dup, NC_000023.11:g.10058729_10058749dup, NC_000023.10:g.10026761_10026789del, NC_000023.10:g.10026763_10026789del, NC_000023.10:g.10026764_10026789del, NC_000023.10:g.10026765_10026789del, NC_000023.10:g.10026766_10026789del, NC_000023.10:g.10026767_10026789del, NC_000023.10:g.10026768_10026789del, NC_000023.10:g.10026769_10026789del, NC_000023.10:g.10026770_10026789del, NC_000023.10:g.10026771_10026789del, NC_000023.10:g.10026772_10026789del, NC_000023.10:g.10026773_10026789del, NC_000023.10:g.10026774_10026789del, NC_000023.10:g.10026775_10026789del, NC_000023.10:g.10026776_10026789del, NC_000023.10:g.10026777_10026789del, NC_000023.10:g.10026778_10026789del, NC_000023.10:g.10026779_10026789del, NC_000023.10:g.10026780_10026789del, NC_000023.10:g.10026781_10026789del, NC_000023.10:g.10026782_10026789del, NC_000023.10:g.10026783_10026789del, NC_000023.10:g.10026784_10026789del, NC_000023.10:g.10026785_10026789del, NC_000023.10:g.10026786_10026789del, NC_000023.10:g.10026787_10026789del, NC_000023.10:g.10026788_10026789del, NC_000023.10:g.10026789del, NC_000023.10:g.10026789dup, NC_000023.10:g.10026788_10026789dup, NC_000023.10:g.10026787_10026789dup, NC_000023.10:g.10026786_10026789dup, NC_000023.10:g.10026785_10026789dup, NC_000023.10:g.10026784_10026789dup, NC_000023.10:g.10026783_10026789dup, NC_000023.10:g.10026779_10026789dup, NC_000023.10:g.10026778_10026789dup, NC_000023.10:g.10026771_10026789dup, NC_000023.10:g.10026770_10026789dup, NC_000023.10:g.10026769_10026789dup, NG_021467.2:g.47967_47995del, NG_021467.2:g.47969_47995del, NG_021467.2:g.47970_47995del, NG_021467.2:g.47971_47995del, NG_021467.2:g.47972_47995del, NG_021467.2:g.47973_47995del, NG_021467.2:g.47974_47995del, NG_021467.2:g.47975_47995del, NG_021467.2:g.47976_47995del, NG_021467.2:g.47977_47995del, NG_021467.2:g.47978_47995del, NG_021467.2:g.47979_47995del, NG_021467.2:g.47980_47995del, NG_021467.2:g.47981_47995del, NG_021467.2:g.47982_47995del, NG_021467.2:g.47983_47995del, NG_021467.2:g.47984_47995del, NG_021467.2:g.47985_47995del, NG_021467.2:g.47986_47995del, NG_021467.2:g.47987_47995del, NG_021467.2:g.47988_47995del, NG_021467.2:g.47989_47995del, NG_021467.2:g.47990_47995del, NG_021467.2:g.47991_47995del, NG_021467.2:g.47992_47995del, NG_021467.2:g.47993_47995del, NG_021467.2:g.47994_47995del, NG_021467.2:g.47995del, NG_021467.2:g.47995dup, NG_021467.2:g.47994_47995dup, NG_021467.2:g.47993_47995dup, NG_021467.2:g.47992_47995dup, NG_021467.2:g.47991_47995dup, NG_021467.2:g.47990_47995dup, NG_021467.2:g.47989_47995dup, NG_021467.2:g.47985_47995dup, NG_021467.2:g.47984_47995dup, NG_021467.2:g.47977_47995dup, NG_021467.2:g.47976_47995dup, NG_021467.2:g.47975_47995dup
10.
rs1491171748 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- X:10119966
(GRCh38)
X:10088006
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10119965:AG:
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00027/5
(
ALFA)
-=0.000135/3
(TOMMO)
-=0.000223/23
(GnomAD)
-=0.000242/64
(TOPMED)
- HGVS:
11.
rs1491171110 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTGT
[Show Flanks]
- Chromosome:
- X:10065317
(GRCh38)
X:10033358
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10065317::TTGT
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTGT=0./0
(
ALFA)
TTGT=0.00001/1
(GnomAD)
- HGVS:
12.
rs1491125232 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- X:10065317
(GRCh38)
X:10033357
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10065316:CG:
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00034/4
(
ALFA)
-=0.00021/10
(GnomAD)
-=0.00042/2
(1000Genomes)
- HGVS:
13.
rs1491124593 has merged into rs745395838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:10085131
(GRCh38)
X:10053171
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10085120:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000023.11:g.10085131_10085157del, NC_000023.11:g.10085132_10085157del, NC_000023.11:g.10085133_10085157del, NC_000023.11:g.10085134_10085157del, NC_000023.11:g.10085135_10085157del, NC_000023.11:g.10085136_10085157del, NC_000023.11:g.10085137_10085157del, NC_000023.11:g.10085138_10085157del, NC_000023.11:g.10085139_10085157del, NC_000023.11:g.10085140_10085157del, NC_000023.11:g.10085141_10085157del, NC_000023.11:g.10085142_10085157del, NC_000023.11:g.10085143_10085157del, NC_000023.11:g.10085144_10085157del, NC_000023.11:g.10085145_10085157del, NC_000023.11:g.10085146_10085157del, NC_000023.11:g.10085147_10085157del, NC_000023.11:g.10085148_10085157del, NC_000023.11:g.10085149_10085157del, NC_000023.11:g.10085150_10085157del, NC_000023.11:g.10085151_10085157del, NC_000023.11:g.10085152_10085157del, NC_000023.11:g.10085153_10085157del, NC_000023.11:g.10085154_10085157del, NC_000023.11:g.10085155_10085157del, NC_000023.11:g.10085156_10085157del, NC_000023.11:g.10085157del, NC_000023.11:g.10085157dup, NC_000023.11:g.10085155_10085157dup, NC_000023.11:g.10085154_10085157dup, NC_000023.11:g.10085153_10085157dup, NC_000023.11:g.10085152_10085157dup, NC_000023.11:g.10085151_10085157dup, NC_000023.11:g.10085150_10085157dup, NC_000023.11:g.10085149_10085157dup, NC_000023.11:g.10085148_10085157dup, NC_000023.11:g.10085147_10085157dup, NC_000023.11:g.10085146_10085157dup, NC_000023.11:g.10085145_10085157dup, NC_000023.11:g.10085144_10085157dup, NC_000023.11:g.10085143_10085157dup, NC_000023.11:g.10085142_10085157dup, NC_000023.11:g.10085141_10085157dup, NC_000023.11:g.10085140_10085157dup, NC_000023.11:g.10085139_10085157dup, NC_000023.11:g.10085137_10085157dup, NC_000023.11:g.10085133_10085157dup, NC_000023.11:g.10085131_10085157dup, NC_000023.11:g.10085130_10085157dup, NC_000023.11:g.10085129_10085157dup, NC_000023.11:g.10085128_10085157dup, NC_000023.11:g.10085127_10085157dup, NC_000023.11:g.10085126_10085157dup, NC_000023.11:g.10085125_10085157dup, NC_000023.10:g.10053171_10053197del, NC_000023.10:g.10053172_10053197del, NC_000023.10:g.10053173_10053197del, NC_000023.10:g.10053174_10053197del, NC_000023.10:g.10053175_10053197del, NC_000023.10:g.10053176_10053197del, NC_000023.10:g.10053177_10053197del, NC_000023.10:g.10053178_10053197del, NC_000023.10:g.10053179_10053197del, NC_000023.10:g.10053180_10053197del, NC_000023.10:g.10053181_10053197del, NC_000023.10:g.10053182_10053197del, NC_000023.10:g.10053183_10053197del, NC_000023.10:g.10053184_10053197del, NC_000023.10:g.10053185_10053197del, NC_000023.10:g.10053186_10053197del, NC_000023.10:g.10053187_10053197del, NC_000023.10:g.10053188_10053197del, NC_000023.10:g.10053189_10053197del, NC_000023.10:g.10053190_10053197del, NC_000023.10:g.10053191_10053197del, NC_000023.10:g.10053192_10053197del, NC_000023.10:g.10053193_10053197del, NC_000023.10:g.10053194_10053197del, NC_000023.10:g.10053195_10053197del, NC_000023.10:g.10053196_10053197del, NC_000023.10:g.10053197del, NC_000023.10:g.10053197dup, NC_000023.10:g.10053195_10053197dup, NC_000023.10:g.10053194_10053197dup, NC_000023.10:g.10053193_10053197dup, NC_000023.10:g.10053192_10053197dup, NC_000023.10:g.10053191_10053197dup, NC_000023.10:g.10053190_10053197dup, NC_000023.10:g.10053189_10053197dup, NC_000023.10:g.10053188_10053197dup, NC_000023.10:g.10053187_10053197dup, NC_000023.10:g.10053186_10053197dup, NC_000023.10:g.10053185_10053197dup, NC_000023.10:g.10053184_10053197dup, NC_000023.10:g.10053183_10053197dup, NC_000023.10:g.10053182_10053197dup, NC_000023.10:g.10053181_10053197dup, NC_000023.10:g.10053180_10053197dup, NC_000023.10:g.10053179_10053197dup, NC_000023.10:g.10053177_10053197dup, NC_000023.10:g.10053173_10053197dup, NC_000023.10:g.10053171_10053197dup, NC_000023.10:g.10053170_10053197dup, NC_000023.10:g.10053169_10053197dup, NC_000023.10:g.10053168_10053197dup, NC_000023.10:g.10053167_10053197dup, NC_000023.10:g.10053166_10053197dup, NC_000023.10:g.10053165_10053197dup, NG_021467.2:g.74377_74403del, NG_021467.2:g.74378_74403del, NG_021467.2:g.74379_74403del, NG_021467.2:g.74380_74403del, NG_021467.2:g.74381_74403del, NG_021467.2:g.74382_74403del, NG_021467.2:g.74383_74403del, NG_021467.2:g.74384_74403del, NG_021467.2:g.74385_74403del, NG_021467.2:g.74386_74403del, NG_021467.2:g.74387_74403del, NG_021467.2:g.74388_74403del, NG_021467.2:g.74389_74403del, NG_021467.2:g.74390_74403del, NG_021467.2:g.74391_74403del, NG_021467.2:g.74392_74403del, NG_021467.2:g.74393_74403del, NG_021467.2:g.74394_74403del, NG_021467.2:g.74395_74403del, NG_021467.2:g.74396_74403del, NG_021467.2:g.74397_74403del, NG_021467.2:g.74398_74403del, NG_021467.2:g.74399_74403del, NG_021467.2:g.74400_74403del, NG_021467.2:g.74401_74403del, NG_021467.2:g.74402_74403del, NG_021467.2:g.74403del, NG_021467.2:g.74403dup, NG_021467.2:g.74401_74403dup, NG_021467.2:g.74400_74403dup, NG_021467.2:g.74399_74403dup, NG_021467.2:g.74398_74403dup, NG_021467.2:g.74397_74403dup, NG_021467.2:g.74396_74403dup, NG_021467.2:g.74395_74403dup, NG_021467.2:g.74394_74403dup, NG_021467.2:g.74393_74403dup, NG_021467.2:g.74392_74403dup, NG_021467.2:g.74391_74403dup, NG_021467.2:g.74390_74403dup, NG_021467.2:g.74389_74403dup, NG_021467.2:g.74388_74403dup, NG_021467.2:g.74387_74403dup, NG_021467.2:g.74386_74403dup, NG_021467.2:g.74385_74403dup, NG_021467.2:g.74383_74403dup, NG_021467.2:g.74379_74403dup, NG_021467.2:g.74377_74403dup, NG_021467.2:g.74376_74403dup, NG_021467.2:g.74375_74403dup, NG_021467.2:g.74374_74403dup, NG_021467.2:g.74373_74403dup, NG_021467.2:g.74372_74403dup, NG_021467.2:g.74371_74403dup
14.
rs1490907208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:10121096
(GRCh38)
X:10089136
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10121095:T:C
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
15.
rs1490906096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:10031912
(GRCh38)
X:9999952
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10031911:G:A
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
16.
rs1490831129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:10135495
(GRCh38)
X:10103535
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10135494:G:A
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490759310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTGGG>-
[Show Flanks]
- Chromosome:
- X:10041351
(GRCh38)
X:10009391
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10041340:TGGGAGTGGGAGTGGG:TGGGAGTGGG
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGGGAGTGGG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490725625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:10117175
(GRCh38)
X:10085215
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10117174:A:C
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
C=0.000006/1
(GnomAD_exomes)
- HGVS:
19.
rs1490710347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:10117269
(GRCh38)
X:10085309
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10117268:G:A
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
20.
rs1490669036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:10134848
(GRCh38)
X:10102888
(GRCh37)
- Canonical SPDI:
- NC_000023.11:10134847:T:C
- Gene:
- WWC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00036/5
(TOMMO)
C=0.000685/2
(KOREAN)
- HGVS: