Links from Gene
Items: 1 to 20 of 12279
1.
rs1491566908 has merged into rs766176155 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:138314000
(GRCh38)
5:137649689
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138313995:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.00634/165
(TOMMO)
- HGVS:
NC_000005.10:g.138314000_138314011del, NC_000005.10:g.138314002_138314011del, NC_000005.10:g.138314005_138314011del, NC_000005.10:g.138314007_138314011del, NC_000005.10:g.138314008_138314011del, NC_000005.10:g.138314009_138314011del, NC_000005.10:g.138314010_138314011del, NC_000005.10:g.138314011del, NC_000005.10:g.138314011dup, NC_000005.10:g.138314010_138314011dup, NC_000005.10:g.138314009_138314011dup, NC_000005.10:g.138314008_138314011dup, NC_000005.10:g.138314007_138314011dup, NC_000005.9:g.137649689_137649700del, NC_000005.9:g.137649691_137649700del, NC_000005.9:g.137649694_137649700del, NC_000005.9:g.137649696_137649700del, NC_000005.9:g.137649697_137649700del, NC_000005.9:g.137649698_137649700del, NC_000005.9:g.137649699_137649700del, NC_000005.9:g.137649700del, NC_000005.9:g.137649700dup, NC_000005.9:g.137649699_137649700dup, NC_000005.9:g.137649698_137649700dup, NC_000005.9:g.137649697_137649700dup, NC_000005.9:g.137649696_137649700dup
2.
rs1491546570 has merged into rs1161142032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138299211
(GRCh38)
5:137634900
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138299193:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.138299211_138299213del, NC_000005.10:g.138299212_138299213del, NC_000005.10:g.138299213del, NC_000005.10:g.138299213dup, NC_000005.10:g.138299212_138299213dup, NC_000005.10:g.138299211_138299213dup, NC_000005.10:g.138299209_138299213dup, NC_000005.9:g.137634900_137634902del, NC_000005.9:g.137634901_137634902del, NC_000005.9:g.137634902del, NC_000005.9:g.137634902dup, NC_000005.9:g.137634901_137634902dup, NC_000005.9:g.137634900_137634902dup, NC_000005.9:g.137634898_137634902dup
4.
rs1491485702 has merged into rs774904685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATATATAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138313389
(GRCh38)
5:137649078
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138313379:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATATATAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.138313389_138313402del, NC_000005.10:g.138313390_138313402del, NC_000005.10:g.138313392_138313402del, NC_000005.10:g.138313393_138313402del, NC_000005.10:g.138313394_138313402del, NC_000005.10:g.138313395_138313402del, NC_000005.10:g.138313396_138313402del, NC_000005.10:g.138313397_138313402del, NC_000005.10:g.138313398_138313402del, NC_000005.10:g.138313399_138313402del, NC_000005.10:g.138313400_138313402del, NC_000005.10:g.138313401_138313402del, NC_000005.10:g.138313402del, NC_000005.10:g.138313402dup, NC_000005.10:g.138313401_138313402dup, NC_000005.10:g.138313400_138313402dup, NC_000005.10:g.138313399_138313402dup, NC_000005.10:g.138313398_138313402dup, NC_000005.10:g.138313397_138313402dup, NC_000005.10:g.138313394_138313402dup, NC_000005.10:g.138313393_138313402dup, NC_000005.10:g.138313380_138313402A[25]TA[3]A[26], NC_000005.9:g.137649078_137649091del, NC_000005.9:g.137649079_137649091del, NC_000005.9:g.137649081_137649091del, NC_000005.9:g.137649082_137649091del, NC_000005.9:g.137649083_137649091del, NC_000005.9:g.137649084_137649091del, NC_000005.9:g.137649085_137649091del, NC_000005.9:g.137649086_137649091del, NC_000005.9:g.137649087_137649091del, NC_000005.9:g.137649088_137649091del, NC_000005.9:g.137649089_137649091del, NC_000005.9:g.137649090_137649091del, NC_000005.9:g.137649091del, NC_000005.9:g.137649091dup, NC_000005.9:g.137649090_137649091dup, NC_000005.9:g.137649089_137649091dup, NC_000005.9:g.137649088_137649091dup, NC_000005.9:g.137649087_137649091dup, NC_000005.9:g.137649086_137649091dup, NC_000005.9:g.137649083_137649091dup, NC_000005.9:g.137649082_137649091dup, NC_000005.9:g.137649069_137649091A[25]TA[3]A[26]
5.
rs1491319225 has merged into rs1300029259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:138296918
(GRCh38)
5:137632607
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138296906:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.138296918_138296929del, NC_000005.10:g.138296920_138296929del, NC_000005.10:g.138296922_138296929del, NC_000005.10:g.138296923_138296929del, NC_000005.10:g.138296924_138296929del, NC_000005.10:g.138296925_138296929del, NC_000005.10:g.138296926_138296929del, NC_000005.10:g.138296927_138296929del, NC_000005.10:g.138296928_138296929del, NC_000005.10:g.138296929del, NC_000005.10:g.138296929dup, NC_000005.10:g.138296928_138296929dup, NC_000005.10:g.138296927_138296929dup, NC_000005.10:g.138296926_138296929dup, NC_000005.10:g.138296925_138296929dup, NC_000005.10:g.138296924_138296929dup, NC_000005.9:g.137632607_137632618del, NC_000005.9:g.137632609_137632618del, NC_000005.9:g.137632611_137632618del, NC_000005.9:g.137632612_137632618del, NC_000005.9:g.137632613_137632618del, NC_000005.9:g.137632614_137632618del, NC_000005.9:g.137632615_137632618del, NC_000005.9:g.137632616_137632618del, NC_000005.9:g.137632617_137632618del, NC_000005.9:g.137632618del, NC_000005.9:g.137632618dup, NC_000005.9:g.137632617_137632618dup, NC_000005.9:g.137632616_137632618dup, NC_000005.9:g.137632615_137632618dup, NC_000005.9:g.137632614_137632618dup, NC_000005.9:g.137632613_137632618dup
7.
rs1491207009 has merged into rs57923567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138320929
(GRCh38)
5:137656618
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138320915:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.138320929_138320945del, NC_000005.10:g.138320930_138320945del, NC_000005.10:g.138320931_138320945del, NC_000005.10:g.138320932_138320945del, NC_000005.10:g.138320933_138320945del, NC_000005.10:g.138320934_138320945del, NC_000005.10:g.138320935_138320945del, NC_000005.10:g.138320936_138320945del, NC_000005.10:g.138320937_138320945del, NC_000005.10:g.138320938_138320945del, NC_000005.10:g.138320939_138320945del, NC_000005.10:g.138320940_138320945del, NC_000005.10:g.138320941_138320945del, NC_000005.10:g.138320942_138320945del, NC_000005.10:g.138320943_138320945del, NC_000005.10:g.138320944_138320945del, NC_000005.10:g.138320945del, NC_000005.10:g.138320945dup, NC_000005.10:g.138320944_138320945dup, NC_000005.10:g.138320943_138320945dup, NC_000005.10:g.138320942_138320945dup, NC_000005.10:g.138320941_138320945dup, NC_000005.10:g.138320940_138320945dup, NC_000005.10:g.138320939_138320945dup, NC_000005.10:g.138320938_138320945dup, NC_000005.10:g.138320937_138320945dup, NC_000005.10:g.138320936_138320945dup, NC_000005.10:g.138320935_138320945dup, NC_000005.10:g.138320934_138320945dup, NC_000005.9:g.137656618_137656634del, NC_000005.9:g.137656619_137656634del, NC_000005.9:g.137656620_137656634del, NC_000005.9:g.137656621_137656634del, NC_000005.9:g.137656622_137656634del, NC_000005.9:g.137656623_137656634del, NC_000005.9:g.137656624_137656634del, NC_000005.9:g.137656625_137656634del, NC_000005.9:g.137656626_137656634del, NC_000005.9:g.137656627_137656634del, NC_000005.9:g.137656628_137656634del, NC_000005.9:g.137656629_137656634del, NC_000005.9:g.137656630_137656634del, NC_000005.9:g.137656631_137656634del, NC_000005.9:g.137656632_137656634del, NC_000005.9:g.137656633_137656634del, NC_000005.9:g.137656634del, NC_000005.9:g.137656634dup, NC_000005.9:g.137656633_137656634dup, NC_000005.9:g.137656632_137656634dup, NC_000005.9:g.137656631_137656634dup, NC_000005.9:g.137656630_137656634dup, NC_000005.9:g.137656629_137656634dup, NC_000005.9:g.137656628_137656634dup, NC_000005.9:g.137656627_137656634dup, NC_000005.9:g.137656626_137656634dup, NC_000005.9:g.137656625_137656634dup, NC_000005.9:g.137656624_137656634dup, NC_000005.9:g.137656623_137656634dup
8.
rs1491162732 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:138296907
(GRCh38)
5:137632597
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138296907::C
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
9.
rs1491070641 has merged into rs71574413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:138329734
(GRCh38)
5:137665423
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138329726:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.430312/2155
(1000Genomes)
- HGVS:
NC_000005.10:g.138329734_138329748del, NC_000005.10:g.138329736_138329748del, NC_000005.10:g.138329737_138329748del, NC_000005.10:g.138329738_138329748del, NC_000005.10:g.138329739_138329748del, NC_000005.10:g.138329740_138329748del, NC_000005.10:g.138329741_138329748del, NC_000005.10:g.138329742_138329748del, NC_000005.10:g.138329743_138329748del, NC_000005.10:g.138329744_138329748del, NC_000005.10:g.138329745_138329748del, NC_000005.10:g.138329746_138329748del, NC_000005.10:g.138329747_138329748del, NC_000005.10:g.138329748del, NC_000005.10:g.138329748dup, NC_000005.10:g.138329747_138329748dup, NC_000005.10:g.138329746_138329748dup, NC_000005.10:g.138329745_138329748dup, NC_000005.10:g.138329744_138329748dup, NC_000005.10:g.138329743_138329748dup, NC_000005.10:g.138329742_138329748dup, NC_000005.10:g.138329741_138329748dup, NC_000005.10:g.138329740_138329748dup, NC_000005.10:g.138329739_138329748dup, NC_000005.10:g.138329738_138329748dup, NC_000005.10:g.138329737_138329748dup, NC_000005.10:g.138329732_138329748dup, NC_000005.9:g.137665423_137665437del, NC_000005.9:g.137665425_137665437del, NC_000005.9:g.137665426_137665437del, NC_000005.9:g.137665427_137665437del, NC_000005.9:g.137665428_137665437del, NC_000005.9:g.137665429_137665437del, NC_000005.9:g.137665430_137665437del, NC_000005.9:g.137665431_137665437del, NC_000005.9:g.137665432_137665437del, NC_000005.9:g.137665433_137665437del, NC_000005.9:g.137665434_137665437del, NC_000005.9:g.137665435_137665437del, NC_000005.9:g.137665436_137665437del, NC_000005.9:g.137665437del, NC_000005.9:g.137665437dup, NC_000005.9:g.137665436_137665437dup, NC_000005.9:g.137665435_137665437dup, NC_000005.9:g.137665434_137665437dup, NC_000005.9:g.137665433_137665437dup, NC_000005.9:g.137665432_137665437dup, NC_000005.9:g.137665431_137665437dup, NC_000005.9:g.137665430_137665437dup, NC_000005.9:g.137665429_137665437dup, NC_000005.9:g.137665428_137665437dup, NC_000005.9:g.137665427_137665437dup, NC_000005.9:g.137665426_137665437dup, NC_000005.9:g.137665421_137665437dup
10.
rs1491035157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:138331758
(GRCh38)
5:137667447
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138331755:AGAG:AG
- Gene:
- CDC25C (Varview), LOC100128966 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
NC_000005.10:g.138331756AG[1], NC_000005.9:g.137667445AG[1], NM_001790.5:c.-203CT[1], NM_001790.4:c.-203CT[1], NM_001790.3:c.-203CT[1], NM_022809.4:c.-203CT[1], NM_022809.3:c.-203CT[1], NM_022809.2:c.-203CT[1], NM_001287582.2:c.-199CT[1], NM_001287582.1:c.-199CT[1], NM_001364027.1:c.-199CT[1], NM_001364028.1:c.-199CT[1]
11.
rs1490905393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:138323718
(GRCh38)
5:137659407
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138323717:T:C
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490900977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:138309237
(GRCh38)
5:137644926
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138309236:A:C
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490847257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:138292672
(GRCh38)
5:137628361
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138292671:C:T
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490826456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:138301691
(GRCh38)
5:137637380
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138301690:A:C
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490790553 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:138300420
(GRCh38)
5:137636109
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138300419:GGG:GG
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490776988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:138285190
(GRCh38)
5:137620879
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138285189:G:A
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490694070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:138316988
(GRCh38)
5:137652677
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138316987:C:A
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490689711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:138287412
(GRCh38)
5:137623101
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138287411:A:T
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490648515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:138324153
(GRCh38)
5:137659842
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138324152:T:C
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00787/23
(KOREAN)
- HGVS:
20.
rs1490593947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:138288525
(GRCh38)
5:137624214
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138288524:C:T
- Gene:
- CDC25C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
T=0.000546/1
(Korea1K)
- HGVS: