Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587510 has merged into rs869276458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 12:51201871
(GRCh38)
12:51595654
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:51201858:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.51201871_51201875del, NC_000012.12:g.51201872_51201875del, NC_000012.12:g.51201873_51201875del, NC_000012.12:g.51201874_51201875del, NC_000012.12:g.51201875del, NC_000012.12:g.51201875dup, NC_000012.12:g.51201874_51201875dup, NC_000012.11:g.51595654_51595658del, NC_000012.11:g.51595655_51595658del, NC_000012.11:g.51595656_51595658del, NC_000012.11:g.51595657_51595658del, NC_000012.11:g.51595658del, NC_000012.11:g.51595658dup, NC_000012.11:g.51595657_51595658dup, NM_001351088.2:c.*2230_*2234del, NM_001351088.2:c.*2231_*2234del, NM_001351088.2:c.*2232_*2234del, NM_001351088.2:c.*2233_*2234del, NM_001351088.2:c.*2234del, NM_001351088.2:c.*2234dup, NM_001351088.2:c.*2233_*2234dup, NM_001351088.1:c.*2230_*2234del, NM_001351088.1:c.*2231_*2234del, NM_001351088.1:c.*2232_*2234del, NM_001351088.1:c.*2233_*2234del, NM_001351088.1:c.*2234del, NM_001351088.1:c.*2234dup, NM_001351088.1:c.*2233_*2234dup, NM_001368008.1:c.*2230_*2234del, NM_001368008.1:c.*2231_*2234del, NM_001368008.1:c.*2232_*2234del, NM_001368008.1:c.*2233_*2234del, NM_001368008.1:c.*2234del, NM_001368008.1:c.*2234dup, NM_001368008.1:c.*2233_*2234dup
2.
rs1491485738 has merged into rs767521766 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:51205047
(GRCh38)
12:51598830
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000012.12:g.51205047_51205056del, NC_000012.12:g.51205053_51205056del, NC_000012.12:g.51205054_51205056del, NC_000012.12:g.51205055_51205056del, NC_000012.12:g.51205056del, NC_000012.12:g.51205056dup, NC_000012.12:g.51205055_51205056dup, NC_000012.12:g.51205054_51205056dup, NC_000012.12:g.51205053_51205056dup, NC_000012.12:g.51205052_51205056dup, NC_000012.12:g.51205051_51205056dup, NC_000012.12:g.51205050_51205056dup, NC_000012.11:g.51598830_51598839del, NC_000012.11:g.51598836_51598839del, NC_000012.11:g.51598837_51598839del, NC_000012.11:g.51598838_51598839del, NC_000012.11:g.51598839del, NC_000012.11:g.51598839dup, NC_000012.11:g.51598838_51598839dup, NC_000012.11:g.51598837_51598839dup, NC_000012.11:g.51598836_51598839dup, NC_000012.11:g.51598835_51598839dup, NC_000012.11:g.51598834_51598839dup, NC_000012.11:g.51598833_51598839dup
3.
rs1491479657 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:51205035
(GRCh38)
12:51598819
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51205035::C
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/1
(GnomAD)
- HGVS:
4.
rs1491416845 has merged into rs767521766 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:51205047
(GRCh38)
12:51598830
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51205034:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000012.12:g.51205047_51205056del, NC_000012.12:g.51205053_51205056del, NC_000012.12:g.51205054_51205056del, NC_000012.12:g.51205055_51205056del, NC_000012.12:g.51205056del, NC_000012.12:g.51205056dup, NC_000012.12:g.51205055_51205056dup, NC_000012.12:g.51205054_51205056dup, NC_000012.12:g.51205053_51205056dup, NC_000012.12:g.51205052_51205056dup, NC_000012.12:g.51205051_51205056dup, NC_000012.12:g.51205050_51205056dup, NC_000012.11:g.51598830_51598839del, NC_000012.11:g.51598836_51598839del, NC_000012.11:g.51598837_51598839del, NC_000012.11:g.51598838_51598839del, NC_000012.11:g.51598839del, NC_000012.11:g.51598839dup, NC_000012.11:g.51598838_51598839dup, NC_000012.11:g.51598837_51598839dup, NC_000012.11:g.51598836_51598839dup, NC_000012.11:g.51598835_51598839dup, NC_000012.11:g.51598834_51598839dup, NC_000012.11:g.51598833_51598839dup
5.
rs1491282917 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:51205034
(GRCh38)
12:51598817
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51205033:CT:
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000253/3
(
ALFA)
-=0.0001/13
(GnomAD)
- HGVS:
8.
rs1491055692 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:51201545
(GRCh38)
12:51595328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51201543:ACA:A
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
-=0.00047/42
(GnomAD)
- HGVS:
9.
rs1491023315 has merged into rs11316062 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:51208120
(GRCh38)
12:51601904
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:51208110:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0202/75
(TWINSUK)
-=0.0218/84
(ALSPAC)
-=0.5/4
(KOREAN)
- HGVS:
NC_000012.12:g.51208120_51208129del, NC_000012.12:g.51208124_51208129del, NC_000012.12:g.51208125_51208129del, NC_000012.12:g.51208126_51208129del, NC_000012.12:g.51208127_51208129del, NC_000012.12:g.51208128_51208129del, NC_000012.12:g.51208129del, NC_000012.12:g.51208129dup, NC_000012.12:g.51208128_51208129dup, NC_000012.12:g.51208127_51208129dup, NC_000012.12:g.51208126_51208129dup, NC_000012.12:g.51208119_51208129dup, NC_000012.11:g.51601904_51601913del, NC_000012.11:g.51601908_51601913del, NC_000012.11:g.51601909_51601913del, NC_000012.11:g.51601910_51601913del, NC_000012.11:g.51601911_51601913del, NC_000012.11:g.51601912_51601913del, NC_000012.11:g.51601913del, NC_000012.11:g.51601913dup, NC_000012.11:g.51601912_51601913dup, NC_000012.11:g.51601911_51601913dup, NC_000012.11:g.51601910_51601913dup, NC_000012.11:g.51601903_51601913dup
10.
rs1491004632 has merged into rs1555163547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 12:51215580
(GRCh38)
12:51609364
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51215576:AGAGAGA:AGA,NC_000012.12:51215576:AGAGAGA:AGAGA,NC_000012.12:51215576:AGAGAGA:AGAGAGAGA
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
AG=0.000213/4
(TOMMO)
- HGVS:
11.
rs1490999622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51209002
(GRCh38)
12:51602786
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51209001:G:A
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490974571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:51211865
(GRCh38)
12:51605649
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51211864:G:T
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490923388 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:51217407
(GRCh38)
12:51611192
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51217407:CCCCC:CCCCCC
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490913155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:51216443
(GRCh38)
12:51610227
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51216442:G:C
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490774686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:51192043
(GRCh38)
12:51585826
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51192042:T:C
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490734884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51193838
(GRCh38)
12:51587621
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51193837:G:A
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490503902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51186443
(GRCh38)
12:51580226
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51186442:C:T
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490413850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51193375
(GRCh38)
12:51587158
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51193374:G:A
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490288195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51190231
(GRCh38)
12:51584014
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51190230:G:A
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.51190231G>A, NC_000012.11:g.51584014G>A, NR_026893.3:n.2231C>T, NR_026893.2:n.1924C>T, NR_026893.1:n.1862C>T, NM_002702.3:c.*16C>T, NM_001330422.2:c.*16C>T, NM_001330422.1:c.*16C>T, NR_147047.2:n.2228C>T, NR_147047.1:n.1921C>T, NR_147051.2:n.2223C>T, NR_147051.1:n.1916C>T, NR_147050.2:n.2155C>T, NR_147050.1:n.1848C>T, NR_147052.2:n.2136C>T, NR_147052.1:n.1829C>T, NR_147048.2:n.2102C>T, NR_147048.1:n.1795C>T, NR_147046.2:n.2099C>T, NR_147046.1:n.1792C>T, NR_147049.2:n.2014C>T, NR_147049.1:n.1707C>T, XM_047429036.1:c.*16C>T, XM_047429038.1:c.*16C>T, XM_047429039.1:c.*348C>T, XM_047429040.1:c.*348C>T, XM_047429041.1:c.*348C>T, XM_047429034.1:c.*16C>T, XM_047429033.1:c.*16C>T, XM_017019514.1:c.*16C>T, XM_047429037.1:c.*16C>T, NR_160429.1:n.2027C>T, NR_160430.1:n.1937C>T, XM_047429035.1:c.*16C>T, XM_047429043.1:c.*16C>T
20.
rs1490178774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51187597
(GRCh38)
12:51581380
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51187596:C:T
- Gene:
- POU6F1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_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:
NC_000012.12:g.51187597C>T, NC_000012.11:g.51581380C>T, NR_026893.3:n.4865G>A, NR_026893.2:n.4558G>A, NR_026893.1:n.4496G>A, NM_002702.3:c.*2650G>A, NM_001330422.2:c.*2650G>A, NM_001330422.1:c.*2650G>A, NR_147047.2:n.4862G>A, NR_147047.1:n.4555G>A, NR_147051.2:n.4857G>A, NR_147051.1:n.4550G>A, NR_147050.2:n.4789G>A, NR_147050.1:n.4482G>A, NR_147052.2:n.4770G>A, NR_147052.1:n.4463G>A, NR_147048.2:n.4736G>A, NR_147048.1:n.4429G>A, NR_147046.2:n.4733G>A, NR_147046.1:n.4426G>A, NR_147049.2:n.4648G>A, NR_147049.1:n.4341G>A, XM_047429036.1:c.*2650G>A, XM_047429038.1:c.*2650G>A, XM_047429039.1:c.*2982G>A, XM_047429040.1:c.*2982G>A, XM_047429041.1:c.*2982G>A, XM_047429034.1:c.*2650G>A, XM_047429033.1:c.*2650G>A, XM_017019514.1:c.*2650G>A, XM_047429037.1:c.*2650G>A, NR_160429.1:n.4661G>A, NR_160430.1:n.4571G>A, XM_047429035.1:c.*2650G>A, XM_047429043.1:c.*2650G>A