Links from Gene
Items: 1 to 20 of 26469
3.
rs1491540211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:907364
(GRCh38)
4:901153
(GRCh37)
- Canonical SPDI:
- NC_000004.12:907364:GGGGGG:GGGGGGG
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGGG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491506473 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 4:887926
(GRCh38)
4:881715
(GRCh37)
- Canonical SPDI:
- NC_000004.12:887926::TA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
TA=0.00005/7
(GnomAD)
TA=0.000053/14
(TOPMED)
- HGVS:
5.
rs1491505565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:888984
(GRCh38)
4:882772
(GRCh37)
- Canonical SPDI:
- NC_000004.12:888980:ACACA:ACA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000071/1
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000053/5
(ExAC)
-=0.000058/14
(GnomAD_exomes)
-=0.000102/27
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
6.
rs1491458208 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:914344
(GRCh38)
4:908133
(GRCh37)
- Canonical SPDI:
- NC_000004.12:914344::C
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00002/2
(GnomAD)
C=0.00008/2
(TOMMO)
- HGVS:
7.
rs1491452236 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACA
[Show Flanks]
- Chromosome:
- 4:869632
(GRCh38)
4:863421
(GRCh37)
- Canonical SPDI:
- NC_000004.12:869632:ACACACA:ACACACAACACACA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACACAACACACA=0./0
(
ALFA)
- HGVS:
8.
rs1491437444 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCG
[Show Flanks]
- Chromosome:
- 4:874134
(GRCh38)
4:867923
(GRCh37)
- Canonical SPDI:
- NC_000004.12:874134:G:GTGCG
- Gene:
- GAK (Varview), LOC105374341 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGCG=0.000108/2
(
ALFA)
GTGC=0.0002/28
(GnomAD)
GTGC=0.000546/1
(Korea1K)
- HGVS:
9.
rs1491382107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 4:856320
(GRCh38)
4:850108
(GRCh37)
- Canonical SPDI:
- NC_000004.12:856316:CACAC:CAC
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAC=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
10.
rs1491342341 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTTACCTGC,CTTACCTGCGCTCT
[Show Flanks]
- Chromosome:
- 4:927804
(GRCh38)
4:921593
(GRCh37)
- Canonical SPDI:
- NC_000004.12:927804::CTTACCTGC,NC_000004.12:927804::CTTACCTGCGCTCT
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CTTACCTGC=0.00012/2
(TOMMO)
- HGVS:
11.
rs1491292548 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 4:927805
(GRCh38)
4:921593
(GRCh37)
- Canonical SPDI:
- NC_000004.12:927803:GGG:G
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00028/8
(TOMMO)
- HGVS:
12.
rs1491264945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 4:903716
(GRCh38)
4:897504
(GRCh37)
- Canonical SPDI:
- NC_000004.12:903714:GCG:G
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000759/9
(
ALFA)
-=0.000953/129
(GnomAD)
-=0.001911/32
(TOMMO)
-=0.002183/4
(Korea1K)
- HGVS:
13.
rs1491255035 has merged into rs143454668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC
[Show Flanks]
- Chromosome:
- 4:870103
(GRCh38)
4:863891
(GRCh37)
- Canonical SPDI:
- NC_000004.12:870093:CACACACACACAC:CACACACAC,NC_000004.12:870093:CACACACACACAC:CACACACACAC,NC_000004.12:870093:CACACACACACAC:CACACACACACACAC,NC_000004.12:870093:CACACACACACAC:CACACACACACACACAC
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACAC=0./0
(
ALFA)
CA=0.069443/18381
(TOPMED)
CA=0.091818/460
(1000Genomes)
CA=0.103333/62
(NorthernSweden)
CA=0.10521/105
(GoNL)
CA=0.141509/30
(Vietnamese)
- HGVS:
15.
rs1491123934 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:914345
(GRCh38)
4:908133
(GRCh37)
- Canonical SPDI:
- NC_000004.12:914343:AAA:A
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000859/13
(
ALFA)
-=0.000227/25
(GnomAD)
-=0.001413/24
(TOMMO)
-=0.005068/3
(NorthernSweden)
- HGVS:
16.
rs1491117169 has merged into rs768017849 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:902609
(GRCh38)
4:896397
(GRCh37)
- Canonical SPDI:
- NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:902596:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.025/1
(GENOME_DK)
- HGVS:
NC_000004.12:g.902609_902614del, NC_000004.12:g.902610_902614del, NC_000004.12:g.902611_902614del, NC_000004.12:g.902612_902614del, NC_000004.12:g.902613_902614del, NC_000004.12:g.902614del, NC_000004.12:g.902614dup, NC_000004.12:g.902613_902614dup, NC_000004.12:g.902612_902614dup, NC_000004.12:g.902611_902614dup, NC_000004.12:g.902610_902614dup, NC_000004.12:g.902609_902614dup, NC_000004.12:g.902608_902614dup, NC_000004.12:g.902607_902614dup, NC_000004.12:g.902606_902614dup, NC_000004.12:g.902605_902614dup, NC_000004.12:g.902604_902614dup, NC_000004.12:g.902603_902614dup, NC_000004.12:g.902602_902614dup, NC_000004.12:g.902601_902614dup, NC_000004.12:g.902600_902614dup, NC_000004.12:g.902599_902614dup, NC_000004.12:g.902598_902614dup, NC_000004.12:g.902597_902614dup, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.902614_902615insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896397_896402del, NC_000004.11:g.896398_896402del, NC_000004.11:g.896399_896402del, NC_000004.11:g.896400_896402del, NC_000004.11:g.896401_896402del, NC_000004.11:g.896402del, NC_000004.11:g.896402dup, NC_000004.11:g.896401_896402dup, NC_000004.11:g.896400_896402dup, NC_000004.11:g.896399_896402dup, NC_000004.11:g.896398_896402dup, NC_000004.11:g.896397_896402dup, NC_000004.11:g.896396_896402dup, NC_000004.11:g.896395_896402dup, NC_000004.11:g.896394_896402dup, NC_000004.11:g.896393_896402dup, NC_000004.11:g.896392_896402dup, NC_000004.11:g.896391_896402dup, NC_000004.11:g.896390_896402dup, NC_000004.11:g.896389_896402dup, NC_000004.11:g.896388_896402dup, NC_000004.11:g.896387_896402dup, NC_000004.11:g.896386_896402dup, NC_000004.11:g.896385_896402dup, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.896402_896403insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
18.
rs1491080727 has merged into rs35567795 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:922529
(GRCh38)
4:916317
(GRCh37)
- Canonical SPDI:
- NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:922514:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.922529_922534del, NC_000004.12:g.922531_922534del, NC_000004.12:g.922532_922534del, NC_000004.12:g.922533_922534del, NC_000004.12:g.922534del, NC_000004.12:g.922534dup, NC_000004.12:g.922533_922534dup, NC_000004.12:g.922532_922534dup, NC_000004.12:g.922531_922534dup, NC_000004.12:g.922529_922534dup, NC_000004.12:g.922528_922534dup, NC_000004.12:g.922527_922534dup, NC_000004.12:g.922526_922534dup, NC_000004.12:g.922525_922534dup, NC_000004.12:g.922516_922534dup, NC_000004.11:g.916317_916322del, NC_000004.11:g.916319_916322del, NC_000004.11:g.916320_916322del, NC_000004.11:g.916321_916322del, NC_000004.11:g.916322del, NC_000004.11:g.916322dup, NC_000004.11:g.916321_916322dup, NC_000004.11:g.916320_916322dup, NC_000004.11:g.916319_916322dup, NC_000004.11:g.916317_916322dup, NC_000004.11:g.916316_916322dup, NC_000004.11:g.916315_916322dup, NC_000004.11:g.916314_916322dup, NC_000004.11:g.916313_916322dup, NC_000004.11:g.916304_916322dup
19.
rs1491074018 has merged into rs79401443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 4:852453
(GRCh38)
4:846241
(GRCh37)
- Canonical SPDI:
- NC_000004.12:852446:TTTTTTTTTTT:TTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:852446:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.3375/1564
(1000Genomes)
- HGVS:
NC_000004.12:g.852453_852457del, NC_000004.12:g.852454_852457del, NC_000004.12:g.852455_852457del, NC_000004.12:g.852456_852457del, NC_000004.12:g.852457del, NC_000004.12:g.852457dup, NC_000004.12:g.852456_852457dup, NC_000004.11:g.846241_846245del, NC_000004.11:g.846242_846245del, NC_000004.11:g.846243_846245del, NC_000004.11:g.846244_846245del, NC_000004.11:g.846245del, NC_000004.11:g.846245dup, NC_000004.11:g.846244_846245dup
20.
rs1491043311 has merged into rs35426588 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 4:860359
(GRCh38)
4:854147
(GRCh37)
- Canonical SPDI:
- NC_000004.12:860347:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:860347:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:860347:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:860347:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:860347:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- GAK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3936/1517
(ALSPAC)
A=0.4126/1530
(TWINSUK)
A=0.5/20
(GENOME_DK)
- HGVS: