Links from Gene
Items: 1 to 20 of 1000
1.
rs1491552859 has merged into rs57877062 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:870999
(GRCh38)
11:870999
(GRCh37)
- Canonical SPDI:
- NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.2113/1058
(1000Genomes)
- HGVS:
NC_000011.10:g.870999_871008del, NC_000011.10:g.871001_871008del, NC_000011.10:g.871004_871008del, NC_000011.10:g.871005_871008del, NC_000011.10:g.871006_871008del, NC_000011.10:g.871007_871008del, NC_000011.10:g.871008del, NC_000011.10:g.871008dup, NC_000011.10:g.871007_871008dup, NC_000011.9:g.870999_871008del, NC_000011.9:g.871001_871008del, NC_000011.9:g.871004_871008del, NC_000011.9:g.871005_871008del, NC_000011.9:g.871006_871008del, NC_000011.9:g.871007_871008del, NC_000011.9:g.871008del, NC_000011.9:g.871008dup, NC_000011.9:g.871007_871008dup
2.
rs1491464403 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:870989
(GRCh38)
11:870989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:870988:CT:
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491442575 has merged into rs1012500230 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:916908
(GRCh38)
11:916908
(GRCh37)
- Canonical SPDI:
- NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.916908_916916del, NC_000011.10:g.916910_916916del, NC_000011.10:g.916912_916916del, NC_000011.10:g.916913_916916del, NC_000011.10:g.916914_916916del, NC_000011.10:g.916915_916916del, NC_000011.10:g.916916del, NC_000011.10:g.916916dup, NC_000011.10:g.916915_916916dup, NC_000011.10:g.916914_916916dup, NC_000011.9:g.916908_916916del, NC_000011.9:g.916910_916916del, NC_000011.9:g.916912_916916del, NC_000011.9:g.916913_916916del, NC_000011.9:g.916914_916916del, NC_000011.9:g.916915_916916del, NC_000011.9:g.916916del, NC_000011.9:g.916916dup, NC_000011.9:g.916915_916916dup, NC_000011.9:g.916914_916916dup
4.
rs1491398095 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:891938
(GRCh38)
11:891938
(GRCh37)
- Canonical SPDI:
- NC_000011.10:891937:CA:
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.007/83
(
ALFA)
-=0.00437/72
(TOMMO)
- HGVS:
5.
rs1491355614 has merged into rs57065345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:891947
(GRCh38)
11:891947
(GRCh37)
- Canonical SPDI:
- NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AA=0.3255/1630
(1000Genomes)
- HGVS:
NC_000011.10:g.891947_891960del, NC_000011.10:g.891948_891960del, NC_000011.10:g.891949_891960del, NC_000011.10:g.891950_891960del, NC_000011.10:g.891951_891960del, NC_000011.10:g.891953_891960del, NC_000011.10:g.891954_891960del, NC_000011.10:g.891955_891960del, NC_000011.10:g.891956_891960del, NC_000011.10:g.891957_891960del, NC_000011.10:g.891958_891960del, NC_000011.10:g.891959_891960del, NC_000011.10:g.891960del, NC_000011.10:g.891960dup, NC_000011.10:g.891959_891960dup, NC_000011.10:g.891958_891960dup, NC_000011.9:g.891947_891960del, NC_000011.9:g.891948_891960del, NC_000011.9:g.891949_891960del, NC_000011.9:g.891950_891960del, NC_000011.9:g.891951_891960del, NC_000011.9:g.891953_891960del, NC_000011.9:g.891954_891960del, NC_000011.9:g.891955_891960del, NC_000011.9:g.891956_891960del, NC_000011.9:g.891957_891960del, NC_000011.9:g.891958_891960del, NC_000011.9:g.891959_891960del, NC_000011.9:g.891960del, NC_000011.9:g.891960dup, NC_000011.9:g.891959_891960dup, NC_000011.9:g.891958_891960dup
6.
rs1491264770 has merged into rs1012500230 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:916908
(GRCh38)
11:916908
(GRCh37)
- Canonical SPDI:
- NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.916908_916916del, NC_000011.10:g.916910_916916del, NC_000011.10:g.916912_916916del, NC_000011.10:g.916913_916916del, NC_000011.10:g.916914_916916del, NC_000011.10:g.916915_916916del, NC_000011.10:g.916916del, NC_000011.10:g.916916dup, NC_000011.10:g.916915_916916dup, NC_000011.10:g.916914_916916dup, NC_000011.9:g.916908_916916del, NC_000011.9:g.916910_916916del, NC_000011.9:g.916912_916916del, NC_000011.9:g.916913_916916del, NC_000011.9:g.916914_916916del, NC_000011.9:g.916915_916916del, NC_000011.9:g.916916del, NC_000011.9:g.916916dup, NC_000011.9:g.916915_916916dup, NC_000011.9:g.916914_916916dup
7.
rs1491217745 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:916899
(GRCh38)
11:916900
(GRCh37)
- Canonical SPDI:
- NC_000011.10:916899::G
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
9.
rs1491037640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 11:886158
(GRCh38)
11:886158
(GRCh37)
- Canonical SPDI:
- NC_000011.10:886156:AGA:A
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00059/7
(
ALFA)
-=0.00054/8
(TOMMO)
-=0.00167/145
(GnomAD)
-=0.00187/12
(1000Genomes)
- HGVS:
10.
rs1490874561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:887905
(GRCh38)
11:887905
(GRCh37)
- Canonical SPDI:
- NC_000011.10:887904:G:T
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000546/1
(Korea1K)
T=0.000743/12
(TOMMO)
T=0.00137/4
(KOREAN)
- HGVS:
11.
rs1490831871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 11:913759
(GRCh38)
11:913759
(GRCh37)
- Canonical SPDI:
- NC_000011.10:913758:T:A,NC_000011.10:913758:T:C,NC_000011.10:913758:T:G
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.01439/42
(KOREAN)
- HGVS:
12.
rs1490812564 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:868285
(GRCh38)
11:868285
(GRCh37)
- Canonical SPDI:
- NC_000011.10:868284:AA:
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.868285_868286del, NC_000011.9:g.868285_868286del, NM_023947.4:c.*1572_*1573del, NM_023947.3:c.*1572_*1573del, XM_011520299.3:c.*1572_*1573del, XM_011520300.3:c.*1572_*1573del, XM_017018166.2:c.*1572_*1573del, NM_001142674.2:c.*1572_*1573del, NM_001142674.1:c.*1572_*1573del, NM_001142676.2:c.*1572_*1573del, NM_001142676.1:c.*1572_*1573del, NM_001142675.2:c.*1572_*1573del, NM_001142675.1:c.*1572_*1573del, NM_001142677.2:c.*1572_*1573del, NM_001142677.1:c.*1572_*1573del, XM_047427481.1:c.*1572_*1573del, XM_047427480.1:c.*1572_*1573del, XM_047427479.1:c.*1572_*1573del, XM_047427484.1:c.*1572_*1573del
13.
rs1490802558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:898755
(GRCh38)
11:898755
(GRCh37)
- Canonical SPDI:
- NC_000011.10:898754:G:A
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490714313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:869009
(GRCh38)
11:869009
(GRCh37)
- Canonical SPDI:
- NC_000011.10:869008:C:T
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- 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_000011.10:g.869009C>T, NC_000011.9:g.869009C>T, NM_023947.4:c.*849G>A, NM_023947.3:c.*849G>A, XM_011520299.3:c.*849G>A, XM_011520300.3:c.*849G>A, XM_017018166.2:c.*849G>A, NM_001142674.2:c.*849G>A, NM_001142674.1:c.*849G>A, NM_001142676.2:c.*849G>A, NM_001142676.1:c.*849G>A, NM_001142675.2:c.*849G>A, NM_001142675.1:c.*849G>A, NM_001142677.2:c.*849G>A, NM_001142677.1:c.*849G>A, XM_047427481.1:c.*849G>A, XM_047427480.1:c.*849G>A, XM_047427479.1:c.*849G>A, XM_047427484.1:c.*849G>A
15.
rs1490669787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:912926
(GRCh38)
11:912926
(GRCh37)
- Canonical SPDI:
- NC_000011.10:912925:T:C
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490664755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:905076
(GRCh38)
11:905076
(GRCh37)
- Canonical SPDI:
- NC_000011.10:905075:C:T
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490643601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:911017
(GRCh38)
11:911017
(GRCh37)
- Canonical SPDI:
- NC_000011.10:911016:C:A,NC_000011.10:911016:C:T
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00007/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
18.
rs1490620402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:882017
(GRCh38)
11:882017
(GRCh37)
- Canonical SPDI:
- NC_000011.10:882016:A:G
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490599776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:903098
(GRCh38)
11:903098
(GRCh37)
- Canonical SPDI:
- NC_000011.10:903097:T:C
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.903098T>C, NC_000011.9:g.903098T>C, NM_023947.4:c.125A>G, NM_023947.3:c.125A>G, XM_011520302.4:c.380A>G, XM_011520302.3:c.380A>G, XM_011520302.2:c.380A>G, XM_011520302.1:c.380A>G, XM_011520301.4:c.380A>G, XM_011520301.3:c.380A>G, XM_011520301.2:c.380A>G, XM_011520301.1:c.380A>G, XM_011520299.3:c.380A>G, XM_011520299.2:c.380A>G, XM_011520299.1:c.380A>G, XM_011520300.3:c.380A>G, XM_011520300.2:c.380A>G, XM_011520300.1:c.380A>G, XM_017018167.3:c.125A>G, XM_017018167.2:c.125A>G, XM_017018167.1:c.125A>G, XM_017018166.2:c.125A>G, XM_017018166.1:c.125A>G, NM_001142674.2:c.125A>G, NM_001142674.1:c.125A>G, NM_001142676.2:c.200A>G, NM_001142676.1:c.200A>G, NM_001142675.2:c.125A>G, NM_001142675.1:c.125A>G, NM_001142677.2:c.125A>G, NM_001142677.1:c.125A>G, XM_024448663.2:c.125A>G, XM_024448663.1:c.125A>G, XM_047427481.1:c.125A>G, XM_047427480.1:c.125A>G, XM_047427479.1:c.125A>G, XM_047427484.1:c.125A>G, XM_047427482.1:c.380A>G, XM_047427483.1:c.125A>G, XM_047427486.1:c.125A>G, XM_047427485.1:c.125A>G, NP_076436.3:p.Asp42Gly, XP_011518604.1:p.Asp127Gly, XP_011518603.1:p.Asp127Gly, XP_011518601.1:p.Asp127Gly, XP_011518602.1:p.Asp127Gly, XP_016873656.1:p.Asp42Gly, XP_016873655.1:p.Asp42Gly, NP_001136146.1:p.Asp42Gly, NP_001136148.1:p.Asp67Gly, NP_001136147.1:p.Asp42Gly, NP_001136149.1:p.Asp42Gly, XP_024304431.1:p.Asp42Gly, XP_047283437.1:p.Asp42Gly, XP_047283436.1:p.Asp42Gly, XP_047283435.1:p.Asp42Gly, XP_047283440.1:p.Asp42Gly, XP_047283438.1:p.Asp127Gly, XP_047283439.1:p.Asp42Gly, XP_047283442.1:p.Asp42Gly, XP_047283441.1:p.Asp42Gly
20.
rs1490506148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:875483
(GRCh38)
11:875483
(GRCh37)
- Canonical SPDI:
- NC_000011.10:875482:G:A
- Gene:
- CHID1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS: