Links from Gene
Items: 1 to 20 of 1595
1.
rs1491057551 has merged into rs34485337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:56265145
(GRCh38)
12:56658929
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56265136:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.56265145_56265158del, NC_000012.12:g.56265147_56265158del, NC_000012.12:g.56265148_56265158del, NC_000012.12:g.56265149_56265158del, NC_000012.12:g.56265150_56265158del, NC_000012.12:g.56265151_56265158del, NC_000012.12:g.56265152_56265158del, NC_000012.12:g.56265153_56265158del, NC_000012.12:g.56265154_56265158del, NC_000012.12:g.56265155_56265158del, NC_000012.12:g.56265156_56265158del, NC_000012.12:g.56265157_56265158del, NC_000012.12:g.56265158del, NC_000012.12:g.56265158dup, NC_000012.12:g.56265157_56265158dup, NC_000012.12:g.56265156_56265158dup, NC_000012.12:g.56265155_56265158dup, NC_000012.12:g.56265153_56265158dup, NC_000012.12:g.56265152_56265158dup, NC_000012.12:g.56265151_56265158dup, NC_000012.12:g.56265150_56265158dup, NC_000012.12:g.56265149_56265158dup, NC_000012.12:g.56265148_56265158dup, NC_000012.12:g.56265147_56265158dup, NC_000012.12:g.56265146_56265158dup, NC_000012.12:g.56265145_56265158dup, NC_000012.12:g.56265144_56265158dup, NC_000012.12:g.56265137_56265158T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.56265143_56265158dup, NC_000012.12:g.56265142_56265158dup, NC_000012.12:g.56265141_56265158dup, NC_000012.12:g.56265140_56265158dup, NC_000012.12:g.56265139_56265158dup, NC_000012.12:g.56265138_56265158dup, NC_000012.12:g.56265137_56265158dup, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.56265158_56265159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658929_56658942del, NC_000012.11:g.56658931_56658942del, NC_000012.11:g.56658932_56658942del, NC_000012.11:g.56658933_56658942del, NC_000012.11:g.56658934_56658942del, NC_000012.11:g.56658935_56658942del, NC_000012.11:g.56658936_56658942del, NC_000012.11:g.56658937_56658942del, NC_000012.11:g.56658938_56658942del, NC_000012.11:g.56658939_56658942del, NC_000012.11:g.56658940_56658942del, NC_000012.11:g.56658941_56658942del, NC_000012.11:g.56658942del, NC_000012.11:g.56658942dup, NC_000012.11:g.56658941_56658942dup, NC_000012.11:g.56658940_56658942dup, NC_000012.11:g.56658939_56658942dup, NC_000012.11:g.56658937_56658942dup, NC_000012.11:g.56658936_56658942dup, NC_000012.11:g.56658935_56658942dup, NC_000012.11:g.56658934_56658942dup, NC_000012.11:g.56658933_56658942dup, NC_000012.11:g.56658932_56658942dup, NC_000012.11:g.56658931_56658942dup, NC_000012.11:g.56658930_56658942dup, NC_000012.11:g.56658929_56658942dup, NC_000012.11:g.56658928_56658942dup, NC_000012.11:g.56658921_56658942T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.56658927_56658942dup, NC_000012.11:g.56658926_56658942dup, NC_000012.11:g.56658925_56658942dup, NC_000012.11:g.56658924_56658942dup, NC_000012.11:g.56658923_56658942dup, NC_000012.11:g.56658922_56658942dup, NC_000012.11:g.56658921_56658942dup, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56658942_56658943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1490448328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56267111
(GRCh38)
12:56660895
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56267110:T:C
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.0002/1
(GnomAD_exomes)
- HGVS:
4.
rs1489511831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56268181
(GRCh38)
12:56661965
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56268180:C:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1489291242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56268099
(GRCh38)
12:56661883
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56268098:C:T
- Gene:
- COQ10A (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:
6.
rs1489261048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 12:56270864
(GRCh38)
12:56664648
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56270863:G:C,NC_000012.12:56270863:G:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000012.12:g.56270864G>C, NC_000012.12:g.56270864G>T, NC_000012.11:g.56664648G>C, NC_000012.11:g.56664648G>T, NM_144576.4:c.*547G>C, NM_144576.4:c.*547G>T, NM_144576.3:c.*547G>C, NM_144576.3:c.*547G>T, NM_001099337.2:c.*547G>C, NM_001099337.2:c.*547G>T, NM_001099337.1:c.*547G>C, NM_001099337.1:c.*547G>T
7.
rs1489136601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56269017
(GRCh38)
12:56662801
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56269016:C:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489033901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 12:56267078
(GRCh38)
12:56660862
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56267077:A:C,NC_000012.12:56267077:A:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00005/7
(GnomAD)
- HGVS:
9.
rs1488933010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:56269799
(GRCh38)
12:56663583
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56269798:T:A
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488588978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGATCCT>-
[Show Flanks]
- Chromosome:
- 12:56266565
(GRCh38)
12:56660349
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56266561:CCTTGTGATCCT:CCT
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487997308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:56266215
(GRCh38)
12:56659999
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56266214:C:G
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1487637664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56266710
(GRCh38)
12:56660494
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56266709:C:T
- Gene:
- COQ10A (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)
- HGVS:
14.
rs1487325834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56265630
(GRCh38)
12:56659414
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56265629:T:C
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487206471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:56266267
(GRCh38)
12:56660051
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56266266:A:C
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
17.
rs1486037214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56271440
(GRCh38)
12:56665224
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56271439:T:C
- Gene:
- CS (Varview), COQ10A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1484919431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 12:56264961
(GRCh38)
12:56658745
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56264960:G:A,NC_000012.12:56264960:G:C,NC_000012.12:56264960:G:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1484739317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:56265204
(GRCh38)
12:56658988
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56265203:A:T
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000017/2
(GnomAD)
- HGVS:
20.
rs1484735155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:56270894
(GRCh38)
12:56664678
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56270893:C:G
- Gene:
- COQ10A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: