Links from Gene
Items: 1 to 20 of 10663
1.
rs1491587249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 19:44958831
(GRCh38)
19:45462088
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44958829:CTC:C
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000571/80
(GnomAD)
- HGVS:
2.
rs1491528192 has merged into rs778157562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:44963216
(GRCh38)
19:45466473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44963207:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000019.10:g.44963216_44963228del, NC_000019.10:g.44963217_44963228del, NC_000019.10:g.44963220_44963228del, NC_000019.10:g.44963221_44963228del, NC_000019.10:g.44963223_44963228del, NC_000019.10:g.44963224_44963228del, NC_000019.10:g.44963225_44963228del, NC_000019.10:g.44963226_44963228del, NC_000019.10:g.44963227_44963228del, NC_000019.10:g.44963228del, NC_000019.10:g.44963228dup, NC_000019.10:g.44963227_44963228dup, NC_000019.10:g.44963226_44963228dup, NC_000019.10:g.44963225_44963228dup, NC_000019.10:g.44963224_44963228dup, NC_000019.10:g.44963223_44963228dup, NC_000019.10:g.44963222_44963228dup, NC_000019.10:g.44963220_44963228dup, NC_000019.10:g.44963219_44963228dup, NC_000019.10:g.44963218_44963228dup, NC_000019.9:g.45466473_45466485del, NC_000019.9:g.45466474_45466485del, NC_000019.9:g.45466477_45466485del, NC_000019.9:g.45466478_45466485del, NC_000019.9:g.45466480_45466485del, NC_000019.9:g.45466481_45466485del, NC_000019.9:g.45466482_45466485del, NC_000019.9:g.45466483_45466485del, NC_000019.9:g.45466484_45466485del, NC_000019.9:g.45466485del, NC_000019.9:g.45466485dup, NC_000019.9:g.45466484_45466485dup, NC_000019.9:g.45466483_45466485dup, NC_000019.9:g.45466482_45466485dup, NC_000019.9:g.45466481_45466485dup, NC_000019.9:g.45466480_45466485dup, NC_000019.9:g.45466479_45466485dup, NC_000019.9:g.45466477_45466485dup, NC_000019.9:g.45466476_45466485dup, NC_000019.9:g.45466475_45466485dup
3.
rs1491431450 has merged into rs11330180 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:44969700
(GRCh38)
19:45472957
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44969687:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0812/313
(ALSPAC)
-=0.4175/2091
(1000Genomes)
- HGVS:
NC_000019.10:g.44969700_44969705del, NC_000019.10:g.44969702_44969705del, NC_000019.10:g.44969703_44969705del, NC_000019.10:g.44969704_44969705del, NC_000019.10:g.44969705del, NC_000019.10:g.44969705dup, NC_000019.10:g.44969704_44969705dup, NC_000019.10:g.44969703_44969705dup, NC_000019.10:g.44969702_44969705dup, NC_000019.10:g.44969701_44969705dup, NC_000019.10:g.44969698_44969705dup, NC_000019.10:g.44969690_44969705dup, NC_000019.9:g.45472957_45472962del, NC_000019.9:g.45472959_45472962del, NC_000019.9:g.45472960_45472962del, NC_000019.9:g.45472961_45472962del, NC_000019.9:g.45472962del, NC_000019.9:g.45472962dup, NC_000019.9:g.45472961_45472962dup, NC_000019.9:g.45472960_45472962dup, NC_000019.9:g.45472959_45472962dup, NC_000019.9:g.45472958_45472962dup, NC_000019.9:g.45472955_45472962dup, NC_000019.9:g.45472947_45472962dup
4.
rs1491408087 has merged into rs74516090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAACTTAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:44980519
(GRCh38)
19:45483776
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44980508:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACTTAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2128/820
(ALSPAC)
- HGVS:
NC_000019.10:g.44980519_44980527del, NC_000019.10:g.44980520_44980527del, NC_000019.10:g.44980522_44980527del, NC_000019.10:g.44980523_44980527del, NC_000019.10:g.44980524_44980527del, NC_000019.10:g.44980525_44980527del, NC_000019.10:g.44980526_44980527del, NC_000019.10:g.44980527del, NC_000019.10:g.44980527dup, NC_000019.10:g.44980526_44980527dup, NC_000019.10:g.44980525_44980527dup, NC_000019.10:g.44980524_44980527dup, NC_000019.10:g.44980523_44980527dup, NC_000019.10:g.44980522_44980527dup, NC_000019.10:g.44980521_44980527dup, NC_000019.10:g.44980520_44980527dup, NC_000019.10:g.44980519_44980527dup, NC_000019.10:g.44980518_44980527dup, NC_000019.10:g.44980517_44980527dup, NC_000019.10:g.44980511_44980527dup, NC_000019.10:g.44980509_44980527A[29]CAACTTAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.45483776_45483784del, NC_000019.9:g.45483777_45483784del, NC_000019.9:g.45483779_45483784del, NC_000019.9:g.45483780_45483784del, NC_000019.9:g.45483781_45483784del, NC_000019.9:g.45483782_45483784del, NC_000019.9:g.45483783_45483784del, NC_000019.9:g.45483784del, NC_000019.9:g.45483784dup, NC_000019.9:g.45483783_45483784dup, NC_000019.9:g.45483782_45483784dup, NC_000019.9:g.45483781_45483784dup, NC_000019.9:g.45483780_45483784dup, NC_000019.9:g.45483779_45483784dup, NC_000019.9:g.45483778_45483784dup, NC_000019.9:g.45483777_45483784dup, NC_000019.9:g.45483776_45483784dup, NC_000019.9:g.45483775_45483784dup, NC_000019.9:g.45483774_45483784dup, NC_000019.9:g.45483768_45483784dup, NC_000019.9:g.45483766_45483784A[29]CAACTTAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491311292 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:44980508
(GRCh38)
19:45483765
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44980507:CA:
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/1
(GnomAD)
- HGVS:
8.
rs1491150419 has merged into rs35582067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:44983626
(GRCh38)
19:45486883
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:44983617:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.44983626_44983645del, NC_000019.10:g.44983627_44983645del, NC_000019.10:g.44983628_44983645del, NC_000019.10:g.44983629_44983645del, NC_000019.10:g.44983630_44983645del, NC_000019.10:g.44983631_44983645del, NC_000019.10:g.44983632_44983645del, NC_000019.10:g.44983633_44983645del, NC_000019.10:g.44983634_44983645del, NC_000019.10:g.44983635_44983645del, NC_000019.10:g.44983636_44983645del, NC_000019.10:g.44983637_44983645del, NC_000019.10:g.44983638_44983645del, NC_000019.10:g.44983639_44983645del, NC_000019.10:g.44983640_44983645del, NC_000019.10:g.44983641_44983645del, NC_000019.10:g.44983642_44983645del, NC_000019.10:g.44983643_44983645del, NC_000019.10:g.44983644_44983645del, NC_000019.10:g.44983645del, NC_000019.10:g.44983645dup, NC_000019.10:g.44983644_44983645dup, NC_000019.10:g.44983643_44983645dup, NC_000019.10:g.44983642_44983645dup, NC_000019.10:g.44983641_44983645dup, NC_000019.10:g.44983640_44983645dup, NC_000019.10:g.44983639_44983645dup, NC_000019.10:g.44983638_44983645dup, NC_000019.10:g.44983637_44983645dup, NC_000019.10:g.44983636_44983645dup, NC_000019.10:g.44983635_44983645dup, NC_000019.10:g.44983634_44983645dup, NC_000019.10:g.44983632_44983645dup, NC_000019.10:g.44983631_44983645dup, NC_000019.10:g.44983629_44983645dup, NC_000019.10:g.44983627_44983645dup, NC_000019.9:g.45486883_45486902del, NC_000019.9:g.45486884_45486902del, NC_000019.9:g.45486885_45486902del, NC_000019.9:g.45486886_45486902del, NC_000019.9:g.45486887_45486902del, NC_000019.9:g.45486888_45486902del, NC_000019.9:g.45486889_45486902del, NC_000019.9:g.45486890_45486902del, NC_000019.9:g.45486891_45486902del, NC_000019.9:g.45486892_45486902del, NC_000019.9:g.45486893_45486902del, NC_000019.9:g.45486894_45486902del, NC_000019.9:g.45486895_45486902del, NC_000019.9:g.45486896_45486902del, NC_000019.9:g.45486897_45486902del, NC_000019.9:g.45486898_45486902del, NC_000019.9:g.45486899_45486902del, NC_000019.9:g.45486900_45486902del, NC_000019.9:g.45486901_45486902del, NC_000019.9:g.45486902del, NC_000019.9:g.45486902dup, NC_000019.9:g.45486901_45486902dup, NC_000019.9:g.45486900_45486902dup, NC_000019.9:g.45486899_45486902dup, NC_000019.9:g.45486898_45486902dup, NC_000019.9:g.45486897_45486902dup, NC_000019.9:g.45486896_45486902dup, NC_000019.9:g.45486895_45486902dup, NC_000019.9:g.45486894_45486902dup, NC_000019.9:g.45486893_45486902dup, NC_000019.9:g.45486892_45486902dup, NC_000019.9:g.45486891_45486902dup, NC_000019.9:g.45486889_45486902dup, NC_000019.9:g.45486888_45486902dup, NC_000019.9:g.45486886_45486902dup, NC_000019.9:g.45486884_45486902dup
9.
rs1491056563 has merged into rs10693027 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:44971879
(GRCh38)
19:45475136
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44971867:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.44971879_44971889del, NC_000019.10:g.44971880_44971889del, NC_000019.10:g.44971881_44971889del, NC_000019.10:g.44971884_44971889del, NC_000019.10:g.44971885_44971889del, NC_000019.10:g.44971886_44971889del, NC_000019.10:g.44971887_44971889del, NC_000019.10:g.44971888_44971889del, NC_000019.10:g.44971889del, NC_000019.10:g.44971889dup, NC_000019.10:g.44971888_44971889dup, NC_000019.10:g.44971887_44971889dup, NC_000019.10:g.44971886_44971889dup, NC_000019.10:g.44971885_44971889dup, NC_000019.10:g.44971884_44971889dup, NC_000019.10:g.44971883_44971889dup, NC_000019.10:g.44971882_44971889dup, NC_000019.10:g.44971881_44971889dup, NC_000019.10:g.44971880_44971889dup, NC_000019.10:g.44971878_44971889dup, NC_000019.10:g.44971869_44971889dup, NC_000019.10:g.44971889_44971890insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44971889_44971890insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45475136_45475146del, NC_000019.9:g.45475137_45475146del, NC_000019.9:g.45475138_45475146del, NC_000019.9:g.45475141_45475146del, NC_000019.9:g.45475142_45475146del, NC_000019.9:g.45475143_45475146del, NC_000019.9:g.45475144_45475146del, NC_000019.9:g.45475145_45475146del, NC_000019.9:g.45475146del, NC_000019.9:g.45475146dup, NC_000019.9:g.45475145_45475146dup, NC_000019.9:g.45475144_45475146dup, NC_000019.9:g.45475143_45475146dup, NC_000019.9:g.45475142_45475146dup, NC_000019.9:g.45475141_45475146dup, NC_000019.9:g.45475140_45475146dup, NC_000019.9:g.45475139_45475146dup, NC_000019.9:g.45475138_45475146dup, NC_000019.9:g.45475137_45475146dup, NC_000019.9:g.45475135_45475146dup, NC_000019.9:g.45475126_45475146dup, NC_000019.9:g.45475146_45475147insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45475146_45475147insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1490918139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:44992218
(GRCh38)
19:45495476
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44992217:G:A,NC_000019.10:44992217:G:T
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1490906026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:44986761
(GRCh38)
19:45490019
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44986760:C:A,NC_000019.10:44986760:C:T
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
12.
rs1490847433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44973293
(GRCh38)
19:45476550
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44973292:G:A
- Gene:
- CLPTM1 (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:
13.
rs1490788944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44959466
(GRCh38)
19:45462723
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44959465:C:T
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490653861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44972736
(GRCh38)
19:45475993
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44972735:G:A
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490456577 has merged into rs1019093009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATTT>-,TATTTTATTT
[Show Flanks]
- Chromosome:
- 19:44980812
(GRCh38)
19:45484069
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44980797:ATTTTATTTTATTTTATTT:ATTTTATTTTATTT,NC_000019.10:44980797:ATTTTATTTTATTTTATTT:ATTTTATTTTATTTTATTTTATTT
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTTTATTTTATTTTATTTTATTT=0.000054/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
17.
rs1490441130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44982865
(GRCh38)
19:45486122
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44982864:C:T
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490407444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:44966499
(GRCh38)
19:45469756
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44966498:A:C
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
19.
rs1490392336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44953144
(GRCh38)
19:45456401
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44953143:C:T
- Gene:
- CLPTM1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: