Links from Gene
Items: 1 to 20 of 9082
2.
rs1491541755 has merged into rs776892733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 12:127945237
(GRCh38)
12:128429782
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127945235:CGCGCGCGCGC:C,NC_000012.12:127945235:CGCGCGCGCGC:CGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
CG=0.00164/3
(Korea1K)
- HGVS:
NC_000012.12:g.127945237_127945246del, NC_000012.12:g.127945237GC[1], NC_000012.12:g.127945237GC[3], NC_000012.12:g.127945237GC[4], NC_000012.12:g.127945237GC[6], NC_000012.12:g.127945237GC[7], NC_000012.12:g.127945237GC[8], NC_000012.11:g.128429782_128429791del, NC_000012.11:g.128429782GC[1], NC_000012.11:g.128429782GC[3], NC_000012.11:g.128429782GC[4], NC_000012.11:g.128429782GC[6], NC_000012.11:g.128429782GC[7], NC_000012.11:g.128429782GC[8]
3.
rs1491468066 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:127917889
(GRCh38)
12:128402434
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127917888:TG:
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01332/217
(
ALFA)
-=0.04833/29
(NorthernSweden)
-=0.21206/1062
(1000Genomes)
-=0.29887/19271
(GnomAD)
-=0.45945/7670
(TOMMO)
- HGVS:
5.
rs1491444915 has merged into rs62762961 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:127923334
(GRCh38)
12:128407879
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.064497/323
(1000Genomes)
- HGVS:
NC_000012.12:g.127923334_127923343del, NC_000012.12:g.127923336_127923343del, NC_000012.12:g.127923337_127923343del, NC_000012.12:g.127923338_127923343del, NC_000012.12:g.127923339_127923343del, NC_000012.12:g.127923340_127923343del, NC_000012.12:g.127923341_127923343del, NC_000012.12:g.127923342_127923343del, NC_000012.12:g.127923343del, NC_000012.12:g.127923343dup, NC_000012.12:g.127923342_127923343dup, NC_000012.12:g.127923341_127923343dup, NC_000012.12:g.127923340_127923343dup, NC_000012.12:g.127923338_127923343dup, NC_000012.12:g.127923336_127923343dup, NC_000012.12:g.127923325_127923343dup, NC_000012.12:g.127923343_127923344insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128407879_128407888del, NC_000012.11:g.128407881_128407888del, NC_000012.11:g.128407882_128407888del, NC_000012.11:g.128407883_128407888del, NC_000012.11:g.128407884_128407888del, NC_000012.11:g.128407885_128407888del, NC_000012.11:g.128407886_128407888del, NC_000012.11:g.128407887_128407888del, NC_000012.11:g.128407888del, NC_000012.11:g.128407888dup, NC_000012.11:g.128407887_128407888dup, NC_000012.11:g.128407886_128407888dup, NC_000012.11:g.128407885_128407888dup, NC_000012.11:g.128407883_128407888dup, NC_000012.11:g.128407881_128407888dup, NC_000012.11:g.128407870_128407888dup, NC_000012.11:g.128407888_128407889insTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491417320 has merged into rs869311852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 12:127920754
(GRCh38)
12:128405299
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.127920746AT[4], NC_000012.12:g.127920746AT[5], NC_000012.12:g.127920746AT[6], NC_000012.12:g.127920746AT[7], NC_000012.12:g.127920746AT[8], NC_000012.12:g.127920746AT[9], NC_000012.12:g.127920746AT[10], NC_000012.12:g.127920746AT[11], NC_000012.12:g.127920746AT[12], NC_000012.12:g.127920746AT[13], NC_000012.12:g.127920746AT[14], NC_000012.12:g.127920746AT[15], NC_000012.12:g.127920746AT[16], NC_000012.12:g.127920746AT[17], NC_000012.12:g.127920746AT[18], NC_000012.12:g.127920746AT[19], NC_000012.12:g.127920746AT[20], NC_000012.12:g.127920746AT[21], NC_000012.12:g.127920746AT[22], NC_000012.12:g.127920746AT[24], NC_000012.12:g.127920746AT[25], NC_000012.12:g.127920746AT[26], NC_000012.12:g.127920746AT[28], NC_000012.11:g.128405291AT[4], NC_000012.11:g.128405291AT[5], NC_000012.11:g.128405291AT[6], NC_000012.11:g.128405291AT[7], NC_000012.11:g.128405291AT[8], NC_000012.11:g.128405291AT[9], NC_000012.11:g.128405291AT[10], NC_000012.11:g.128405291AT[11], NC_000012.11:g.128405291AT[12], NC_000012.11:g.128405291AT[13], NC_000012.11:g.128405291AT[14], NC_000012.11:g.128405291AT[15], NC_000012.11:g.128405291AT[16], NC_000012.11:g.128405291AT[17], NC_000012.11:g.128405291AT[18], NC_000012.11:g.128405291AT[19], NC_000012.11:g.128405291AT[20], NC_000012.11:g.128405291AT[21], NC_000012.11:g.128405291AT[22], NC_000012.11:g.128405291AT[24], NC_000012.11:g.128405291AT[25], NC_000012.11:g.128405291AT[26], NC_000012.11:g.128405291AT[28]
7.
rs1491321427 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 12:127949941
(GRCh38)
12:128434486
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127949939:AAA:A
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491298301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 12:127924444
(GRCh38)
12:128408989
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127924442:CGC:C
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000052/7
(GnomAD)
-=0.003333/2
(NorthernSweden)
- HGVS:
10.
rs1491228809 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:127945278
(GRCh38)
12:128429823
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127945277:CT:
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001727/28
(
ALFA)
-=0.004997/32
(1000Genomes)
-=0.005796/797
(GnomAD)
-=0.015/9
(NorthernSweden)
-=0.015372/57
(TWINSUK)
-=0.016087/62
(ALSPAC)
- HGVS:
11.
rs1491211345 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:127923323
(GRCh38)
12:128407869
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127923323::C
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00007/1
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1491069344 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:127917888
(GRCh38)
12:128402433
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127917887:AT:
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00006/4
(GnomAD)
- HGVS:
14.
rs1491067700 has merged into rs1555226651 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:127917917
(GRCh38)
12:128402462
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:127917900:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.127917901CA[8], NC_000012.12:g.127917901CA[9], NC_000012.12:g.127917901CA[10], NC_000012.12:g.127917901CA[11], NC_000012.12:g.127917901CA[12], NC_000012.12:g.127917901CA[13], NC_000012.12:g.127917901CA[14], NC_000012.12:g.127917901CA[15], NC_000012.12:g.127917901CA[17], NC_000012.12:g.127917901CA[18], NC_000012.12:g.127917901CA[19], NC_000012.12:g.127917901CA[20], NC_000012.12:g.127917901CA[21], NC_000012.12:g.127917901CA[22], NC_000012.12:g.127917901CA[23], NC_000012.12:g.127917901CA[24], NC_000012.12:g.127917901CA[25], NC_000012.12:g.127917901CA[26], NC_000012.12:g.127917901CA[27], NC_000012.11:g.128402446CA[8], NC_000012.11:g.128402446CA[9], NC_000012.11:g.128402446CA[10], NC_000012.11:g.128402446CA[11], NC_000012.11:g.128402446CA[12], NC_000012.11:g.128402446CA[13], NC_000012.11:g.128402446CA[14], NC_000012.11:g.128402446CA[15], NC_000012.11:g.128402446CA[17], NC_000012.11:g.128402446CA[18], NC_000012.11:g.128402446CA[19], NC_000012.11:g.128402446CA[20], NC_000012.11:g.128402446CA[21], NC_000012.11:g.128402446CA[22], NC_000012.11:g.128402446CA[23], NC_000012.11:g.128402446CA[24], NC_000012.11:g.128402446CA[25], NC_000012.11:g.128402446CA[26], NC_000012.11:g.128402446CA[27]
17.
rs1490919658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:127923250
(GRCh38)
12:128407795
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127923249:A:C
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
18.
rs1490744962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:127941945
(GRCh38)
12:128426490
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127941944:T:A
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490709285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:127939569
(GRCh38)
12:128424114
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127939568:C:T
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000142/2
(TOMMO)
- HGVS:
20.
rs1490679439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:127928098
(GRCh38)
12:128412643
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127928097:G:A
- Gene:
- LINC00507 (Varview), LINC00508 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS: