Links from Gene
Items: 1 to 20 of 1000
1.
rs1491563683 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAATAATAAT
[Show Flanks]
- Chromosome:
- 8:22481370
(GRCh38)
8:22338884
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22481370:ATAATAATAAT:ATAATAATAATATAATAATAAT
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAATAATAATATAATAATAAT=0./0
(
ALFA)
ATAATAATAAT=0.000004/1
(TOPMED)
ATAATAATAAT=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491499643 has merged into rs35113938 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22449459
(GRCh38)
8:22306972
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22449447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP3CC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000008.11:g.22449459_22449472del, NC_000008.11:g.22449460_22449472del, NC_000008.11:g.22449461_22449472del, NC_000008.11:g.22449462_22449472del, NC_000008.11:g.22449463_22449472del, NC_000008.11:g.22449464_22449472del, NC_000008.11:g.22449465_22449472del, NC_000008.11:g.22449466_22449472del, NC_000008.11:g.22449467_22449472del, NC_000008.11:g.22449468_22449472del, NC_000008.11:g.22449469_22449472del, NC_000008.11:g.22449470_22449472del, NC_000008.11:g.22449471_22449472del, NC_000008.11:g.22449472del, NC_000008.11:g.22449472dup, NC_000008.11:g.22449471_22449472dup, NC_000008.11:g.22449470_22449472dup, NC_000008.11:g.22449469_22449472dup, NC_000008.11:g.22449468_22449472dup, NC_000008.11:g.22449467_22449472dup, NC_000008.11:g.22449466_22449472dup, NC_000008.10:g.22306972_22306985del, NC_000008.10:g.22306973_22306985del, NC_000008.10:g.22306974_22306985del, NC_000008.10:g.22306975_22306985del, NC_000008.10:g.22306976_22306985del, NC_000008.10:g.22306977_22306985del, NC_000008.10:g.22306978_22306985del, NC_000008.10:g.22306979_22306985del, NC_000008.10:g.22306980_22306985del, NC_000008.10:g.22306981_22306985del, NC_000008.10:g.22306982_22306985del, NC_000008.10:g.22306983_22306985del, NC_000008.10:g.22306984_22306985del, NC_000008.10:g.22306985del, NC_000008.10:g.22306985dup, NC_000008.10:g.22306984_22306985dup, NC_000008.10:g.22306983_22306985dup, NC_000008.10:g.22306982_22306985dup, NC_000008.10:g.22306981_22306985dup, NC_000008.10:g.22306980_22306985dup, NC_000008.10:g.22306979_22306985dup
4.
rs1491480301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:22492252
(GRCh38)
8:22349766
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22492252:G:GG
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491471141 has merged into rs745991987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 8:22525543
(GRCh38)
8:22383056
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22525541:CCC:C,NC_000008.11:22525541:CCC:CC
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00042/5
(
ALFA)
-=0.00024/4
(TOMMO)
-=0.0101/6
(NorthernSweden)
-=0.01106/41
(TWINSUK)
-=0.0122/47
(ALSPAC)
-=0.02942/1735
(GnomAD)
- HGVS:
6.
rs1491416336 has merged into rs71206523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:22496495
(GRCh38)
8:22354008
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22496485:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.22496495_22496515del, NC_000008.11:g.22496496_22496515del, NC_000008.11:g.22496497_22496515del, NC_000008.11:g.22496498_22496515del, NC_000008.11:g.22496499_22496515del, NC_000008.11:g.22496500_22496515del, NC_000008.11:g.22496501_22496515del, NC_000008.11:g.22496502_22496515del, NC_000008.11:g.22496503_22496515del, NC_000008.11:g.22496504_22496515del, NC_000008.11:g.22496505_22496515del, NC_000008.11:g.22496506_22496515del, NC_000008.11:g.22496507_22496515del, NC_000008.11:g.22496508_22496515del, NC_000008.11:g.22496509_22496515del, NC_000008.11:g.22496510_22496515del, NC_000008.11:g.22496511_22496515del, NC_000008.11:g.22496512_22496515del, NC_000008.11:g.22496513_22496515del, NC_000008.11:g.22496514_22496515del, NC_000008.11:g.22496515del, NC_000008.11:g.22496515dup, NC_000008.11:g.22496514_22496515dup, NC_000008.11:g.22496513_22496515dup, NC_000008.11:g.22496512_22496515dup, NC_000008.11:g.22496511_22496515dup, NC_000008.11:g.22496510_22496515dup, NC_000008.11:g.22496509_22496515dup, NC_000008.11:g.22496508_22496515dup, NC_000008.11:g.22496507_22496515dup, NC_000008.11:g.22496506_22496515dup, NC_000008.11:g.22496505_22496515dup, NC_000008.11:g.22496504_22496515dup, NC_000008.11:g.22496503_22496515dup, NC_000008.11:g.22496502_22496515dup, NC_000008.11:g.22496501_22496515dup, NC_000008.11:g.22496500_22496515dup, NC_000008.11:g.22496499_22496515dup, NC_000008.11:g.22496497_22496515dup, NC_000008.11:g.22496496_22496515dup, NC_000008.11:g.22496494_22496515dup, NC_000008.11:g.22496493_22496515dup, NC_000008.11:g.22496492_22496515dup, NC_000008.11:g.22496491_22496515dup, NC_000008.11:g.22496490_22496515dup, NC_000008.11:g.22496489_22496515dup, NC_000008.11:g.22496488_22496515dup, NC_000008.11:g.22496487_22496515dup, NC_000008.11:g.22496486_22496515dup, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22496515_22496516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354008_22354028del, NC_000008.10:g.22354009_22354028del, NC_000008.10:g.22354010_22354028del, NC_000008.10:g.22354011_22354028del, NC_000008.10:g.22354012_22354028del, NC_000008.10:g.22354013_22354028del, NC_000008.10:g.22354014_22354028del, NC_000008.10:g.22354015_22354028del, NC_000008.10:g.22354016_22354028del, NC_000008.10:g.22354017_22354028del, NC_000008.10:g.22354018_22354028del, NC_000008.10:g.22354019_22354028del, NC_000008.10:g.22354020_22354028del, NC_000008.10:g.22354021_22354028del, NC_000008.10:g.22354022_22354028del, NC_000008.10:g.22354023_22354028del, NC_000008.10:g.22354024_22354028del, NC_000008.10:g.22354025_22354028del, NC_000008.10:g.22354026_22354028del, NC_000008.10:g.22354027_22354028del, NC_000008.10:g.22354028del, NC_000008.10:g.22354028dup, NC_000008.10:g.22354027_22354028dup, NC_000008.10:g.22354026_22354028dup, NC_000008.10:g.22354025_22354028dup, NC_000008.10:g.22354024_22354028dup, NC_000008.10:g.22354023_22354028dup, NC_000008.10:g.22354022_22354028dup, NC_000008.10:g.22354021_22354028dup, NC_000008.10:g.22354020_22354028dup, NC_000008.10:g.22354019_22354028dup, NC_000008.10:g.22354018_22354028dup, NC_000008.10:g.22354017_22354028dup, NC_000008.10:g.22354016_22354028dup, NC_000008.10:g.22354015_22354028dup, NC_000008.10:g.22354014_22354028dup, NC_000008.10:g.22354013_22354028dup, NC_000008.10:g.22354012_22354028dup, NC_000008.10:g.22354010_22354028dup, NC_000008.10:g.22354009_22354028dup, NC_000008.10:g.22354007_22354028dup, NC_000008.10:g.22354006_22354028dup, NC_000008.10:g.22354005_22354028dup, NC_000008.10:g.22354004_22354028dup, NC_000008.10:g.22354003_22354028dup, NC_000008.10:g.22354002_22354028dup, NC_000008.10:g.22354001_22354028dup, NC_000008.10:g.22354000_22354028dup, NC_000008.10:g.22353999_22354028dup, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22354028_22354029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491414691 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 8:22470087
(GRCh38)
8:22327600
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22470085:ATA:A
- Gene:
- PPP3CC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000422/5
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000755/104
(GnomAD)
- HGVS:
8.
rs1491346274 has merged into rs58626647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22530842
(GRCh38)
8:22388355
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22530829:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000008.11:g.22530842_22530856del, NC_000008.11:g.22530843_22530856del, NC_000008.11:g.22530844_22530856del, NC_000008.11:g.22530845_22530856del, NC_000008.11:g.22530846_22530856del, NC_000008.11:g.22530847_22530856del, NC_000008.11:g.22530848_22530856del, NC_000008.11:g.22530849_22530856del, NC_000008.11:g.22530850_22530856del, NC_000008.11:g.22530851_22530856del, NC_000008.11:g.22530852_22530856del, NC_000008.11:g.22530853_22530856del, NC_000008.11:g.22530854_22530856del, NC_000008.11:g.22530855_22530856del, NC_000008.11:g.22530856del, NC_000008.11:g.22530856dup, NC_000008.11:g.22530855_22530856dup, NC_000008.11:g.22530854_22530856dup, NC_000008.11:g.22530853_22530856dup, NC_000008.11:g.22530852_22530856dup, NC_000008.11:g.22530851_22530856dup, NC_000008.11:g.22530850_22530856dup, NC_000008.11:g.22530848_22530856dup, NC_000008.11:g.22530847_22530856dup, NC_000008.11:g.22530845_22530856dup, NC_000008.11:g.22530844_22530856dup, NC_000008.11:g.22530843_22530856dup, NC_000008.11:g.22530842_22530856dup, NC_000008.11:g.22530839_22530856dup, NC_000008.10:g.22388355_22388369del, NC_000008.10:g.22388356_22388369del, NC_000008.10:g.22388357_22388369del, NC_000008.10:g.22388358_22388369del, NC_000008.10:g.22388359_22388369del, NC_000008.10:g.22388360_22388369del, NC_000008.10:g.22388361_22388369del, NC_000008.10:g.22388362_22388369del, NC_000008.10:g.22388363_22388369del, NC_000008.10:g.22388364_22388369del, NC_000008.10:g.22388365_22388369del, NC_000008.10:g.22388366_22388369del, NC_000008.10:g.22388367_22388369del, NC_000008.10:g.22388368_22388369del, NC_000008.10:g.22388369del, NC_000008.10:g.22388369dup, NC_000008.10:g.22388368_22388369dup, NC_000008.10:g.22388367_22388369dup, NC_000008.10:g.22388366_22388369dup, NC_000008.10:g.22388365_22388369dup, NC_000008.10:g.22388364_22388369dup, NC_000008.10:g.22388363_22388369dup, NC_000008.10:g.22388361_22388369dup, NC_000008.10:g.22388360_22388369dup, NC_000008.10:g.22388358_22388369dup, NC_000008.10:g.22388357_22388369dup, NC_000008.10:g.22388356_22388369dup, NC_000008.10:g.22388355_22388369dup, NC_000008.10:g.22388352_22388369dup
9.
rs1491316077 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:22449447
(GRCh38)
8:22306960
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22449446:CA:
- Gene:
- PPP3CC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00388/46
(
ALFA)
-=0.00073/24
(GnomAD)
-=0.00721/118
(TOMMO)
- HGVS:
10.
rs1491252472 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:22530829
(GRCh38)
8:22388342
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22530828:CA:
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00084/22
(TOMMO)
- HGVS:
12.
rs1491235361 has merged into rs1378707387 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCCCTCC>-,CTCC,CTCCCTCCCTCC
[Show Flanks]
- Chromosome:
- 8:22457067
(GRCh38)
8:22314580
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22457052:CCCTCCCTCCCTCCCTCCCTCC:CCCTCCCTCCCTCC,NC_000008.11:22457052:CCCTCCCTCCCTCCCTCCCTCC:CCCTCCCTCCCTCCCTCC,NC_000008.11:22457052:CCCTCCCTCCCTCCCTCCCTCC:CCCTCCCTCCCTCCCTCCCTCCCTCC
- Gene:
- PPP3CC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCTCCCTCCCTCCCTCC=0./0
(
ALFA)
-=0.00068/11
(TOMMO)
-=0.0017/3
(Korea1K)
- HGVS:
14.
rs1491212511 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:22521975
(GRCh38)
8:22379488
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22521973:ACA:A
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00209/34
(
ALFA)
-=0.000531/9
(TOMMO)
-=0.004194/522
(GnomAD)
-=0.011475/21
(Korea1K)
- HGVS:
15.
rs1491159463 has merged into rs34407184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22446816
(GRCh38)
8:22304329
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22446805:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP3CC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000008.11:g.22446816_22446832del, NC_000008.11:g.22446818_22446832del, NC_000008.11:g.22446820_22446832del, NC_000008.11:g.22446821_22446832del, NC_000008.11:g.22446822_22446832del, NC_000008.11:g.22446823_22446832del, NC_000008.11:g.22446824_22446832del, NC_000008.11:g.22446825_22446832del, NC_000008.11:g.22446826_22446832del, NC_000008.11:g.22446827_22446832del, NC_000008.11:g.22446828_22446832del, NC_000008.11:g.22446829_22446832del, NC_000008.11:g.22446830_22446832del, NC_000008.11:g.22446831_22446832del, NC_000008.11:g.22446832del, NC_000008.11:g.22446832dup, NC_000008.11:g.22446831_22446832dup, NC_000008.11:g.22446830_22446832dup, NC_000008.11:g.22446829_22446832dup, NC_000008.11:g.22446828_22446832dup, NC_000008.11:g.22446827_22446832dup, NC_000008.11:g.22446818_22446832dup, NC_000008.10:g.22304329_22304345del, NC_000008.10:g.22304331_22304345del, NC_000008.10:g.22304333_22304345del, NC_000008.10:g.22304334_22304345del, NC_000008.10:g.22304335_22304345del, NC_000008.10:g.22304336_22304345del, NC_000008.10:g.22304337_22304345del, NC_000008.10:g.22304338_22304345del, NC_000008.10:g.22304339_22304345del, NC_000008.10:g.22304340_22304345del, NC_000008.10:g.22304341_22304345del, NC_000008.10:g.22304342_22304345del, NC_000008.10:g.22304343_22304345del, NC_000008.10:g.22304344_22304345del, NC_000008.10:g.22304345del, NC_000008.10:g.22304345dup, NC_000008.10:g.22304344_22304345dup, NC_000008.10:g.22304343_22304345dup, NC_000008.10:g.22304342_22304345dup, NC_000008.10:g.22304341_22304345dup, NC_000008.10:g.22304340_22304345dup, NC_000008.10:g.22304331_22304345dup
17.
rs1491108491 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 8:22481370
(GRCh38)
8:22338883
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22481369:AA:
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
19.
rs1491096135 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTT
[Show Flanks]
- Chromosome:
- 8:22525542
(GRCh38)
8:22383056
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22525542::TTT
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TTT=0.00008/1
(TOMMO)
TTT=0.00008/4
(GnomAD)
- HGVS:
20.
rs1491078835 has merged into rs199822256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22493387
(GRCh38)
8:22350900
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22493376:AAAAAAAAAAAAA:AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP3CC (Varview), LOC124901905 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.22493387_22493389del, NC_000008.11:g.22493388_22493389del, NC_000008.11:g.22493389del, NC_000008.11:g.22493389dup, NC_000008.11:g.22493388_22493389dup, NC_000008.11:g.22493377_22493389A[14]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.22350900_22350902del, NC_000008.10:g.22350901_22350902del, NC_000008.10:g.22350902del, NC_000008.10:g.22350902dup, NC_000008.10:g.22350901_22350902dup, NC_000008.10:g.22350890_22350902A[14]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_005367.4:g.988_990del, NG_005367.4:g.989_990del, NG_005367.4:g.990del, NG_005367.4:g.990dup, NG_005367.4:g.989_990dup, NG_005367.4:g.978_990A[14]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]