Links from Gene
Items: 1 to 20 of 21557
1.
rs1491584458 has merged into rs34653067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:177828073
(GRCh38)
4:178749227
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:177828062:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.0361/139
(ALSPAC)
T=0.0388/144
(TWINSUK)
T=0.3/12
(GENOME_DK)
T=0.4726/2367
(1000Genomes)
- HGVS:
NC_000004.12:g.177828073_177828078del, NC_000004.12:g.177828074_177828078del, NC_000004.12:g.177828076_177828078del, NC_000004.12:g.177828077_177828078del, NC_000004.12:g.177828078del, NC_000004.12:g.177828078dup, NC_000004.12:g.177828077_177828078dup, NC_000004.12:g.177828076_177828078dup, NC_000004.12:g.177828075_177828078dup, NC_000004.12:g.177828074_177828078dup, NC_000004.11:g.178749227_178749232del, NC_000004.11:g.178749228_178749232del, NC_000004.11:g.178749230_178749232del, NC_000004.11:g.178749231_178749232del, NC_000004.11:g.178749232del, NC_000004.11:g.178749232dup, NC_000004.11:g.178749231_178749232dup, NC_000004.11:g.178749230_178749232dup, NC_000004.11:g.178749229_178749232dup, NC_000004.11:g.178749228_178749232dup
2.
rs1491569467 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:177906297
(GRCh38)
4:178827452
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177906297::A
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/2
(GnomAD)
- HGVS:
4.
rs1491332437 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:177889431
(GRCh38)
4:178810585
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177889430:CA:
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00944/112
(
ALFA)
-=0.00059/49
(GnomAD)
-=0.00202/34
(TOMMO)
- HGVS:
6.
rs1491227391 has merged into rs34969479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:177889447
(GRCh38)
4:178810601
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:177889431:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2985/1495
(1000Genomes)
- HGVS:
NC_000004.12:g.177889447_177889451del, NC_000004.12:g.177889448_177889451del, NC_000004.12:g.177889449_177889451del, NC_000004.12:g.177889450_177889451del, NC_000004.12:g.177889451del, NC_000004.12:g.177889451dup, NC_000004.12:g.177889450_177889451dup, NC_000004.12:g.177889449_177889451dup, NC_000004.12:g.177889446_177889451dup, NC_000004.11:g.178810601_178810605del, NC_000004.11:g.178810602_178810605del, NC_000004.11:g.178810603_178810605del, NC_000004.11:g.178810604_178810605del, NC_000004.11:g.178810605del, NC_000004.11:g.178810605dup, NC_000004.11:g.178810604_178810605dup, NC_000004.11:g.178810603_178810605dup, NC_000004.11:g.178810600_178810605dup
7.
rs1491162042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 4:177899101
(GRCh38)
4:178820255
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177899099:AAA:A,NC_000004.12:177899099:AAA:AAAAA
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
-=0.0005/8
(TOMMO)
- HGVS:
8.
rs1491041176 has merged into rs201935788 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 4:177899093
(GRCh38)
4:178820247
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:177899075:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
AC=0.2057/1030
(1000Genomes)
- HGVS:
NC_000004.12:g.177899077CA[8], NC_000004.12:g.177899077CA[9], NC_000004.12:g.177899077CA[10], NC_000004.12:g.177899077CA[11], NC_000004.12:g.177899077CA[13], NC_000004.12:g.177899077CA[14], NC_000004.12:g.177899077CA[15], NC_000004.12:g.177899077CA[16], NC_000004.12:g.177899077CA[17], NC_000004.12:g.177899077CA[18], NC_000004.12:g.177899077CA[19], NC_000004.12:g.177899077CA[20], NC_000004.12:g.177899077CA[21], NC_000004.12:g.177899077CA[22], NC_000004.12:g.177899077CA[23], NC_000004.12:g.177899077CA[24], NC_000004.12:g.177899077CA[25], NC_000004.12:g.177899077CA[26], NC_000004.12:g.177899077CA[27], NC_000004.11:g.178820231CA[8], NC_000004.11:g.178820231CA[9], NC_000004.11:g.178820231CA[10], NC_000004.11:g.178820231CA[11], NC_000004.11:g.178820231CA[13], NC_000004.11:g.178820231CA[14], NC_000004.11:g.178820231CA[15], NC_000004.11:g.178820231CA[16], NC_000004.11:g.178820231CA[17], NC_000004.11:g.178820231CA[18], NC_000004.11:g.178820231CA[19], NC_000004.11:g.178820231CA[20], NC_000004.11:g.178820231CA[21], NC_000004.11:g.178820231CA[22], NC_000004.11:g.178820231CA[23], NC_000004.11:g.178820231CA[24], NC_000004.11:g.178820231CA[25], NC_000004.11:g.178820231CA[26], NC_000004.11:g.178820231CA[27]
9.
rs1491000175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:177906577
(GRCh38)
4:178827731
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177906576:C:T
- Gene:
- LINC01098 (Varview), LINC01099 (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:
10.
rs1490908774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:177813674
(GRCh38)
4:178734828
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177813673:G:T
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490900054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:177881122
(GRCh38)
4:178802276
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177881121:C:A
- Gene:
- LINC01098 (Varview), LINC01099 (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:
12.
rs1490880800 has merged into rs148973588 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:177829657
(GRCh38)
4:178750811
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:177829647:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TT=0.3892/1949
(1000Genomes)
- HGVS:
NC_000004.12:g.177829657_177829665del, NC_000004.12:g.177829658_177829665del, NC_000004.12:g.177829659_177829665del, NC_000004.12:g.177829661_177829665del, NC_000004.12:g.177829662_177829665del, NC_000004.12:g.177829663_177829665del, NC_000004.12:g.177829664_177829665del, NC_000004.12:g.177829665del, NC_000004.12:g.177829665dup, NC_000004.12:g.177829664_177829665dup, NC_000004.12:g.177829663_177829665dup, NC_000004.12:g.177829662_177829665dup, NC_000004.12:g.177829661_177829665dup, NC_000004.12:g.177829660_177829665dup, NC_000004.12:g.177829659_177829665dup, NC_000004.12:g.177829655_177829665dup, NC_000004.12:g.177829653_177829665dup, NC_000004.12:g.177829652_177829665dup, NC_000004.12:g.177829665_177829666insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.178750811_178750819del, NC_000004.11:g.178750812_178750819del, NC_000004.11:g.178750813_178750819del, NC_000004.11:g.178750815_178750819del, NC_000004.11:g.178750816_178750819del, NC_000004.11:g.178750817_178750819del, NC_000004.11:g.178750818_178750819del, NC_000004.11:g.178750819del, NC_000004.11:g.178750819dup, NC_000004.11:g.178750818_178750819dup, NC_000004.11:g.178750817_178750819dup, NC_000004.11:g.178750816_178750819dup, NC_000004.11:g.178750815_178750819dup, NC_000004.11:g.178750814_178750819dup, NC_000004.11:g.178750813_178750819dup, NC_000004.11:g.178750809_178750819dup, NC_000004.11:g.178750807_178750819dup, NC_000004.11:g.178750806_178750819dup, NC_000004.11:g.178750819_178750820insTTTTTTTTTTTTTTTTTTTT
13.
rs1490880360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:177844203
(GRCh38)
4:178765357
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177844202:T:C
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490797218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:177876253
(GRCh38)
4:178797407
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177876252:G:A
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490757969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:177837373
(GRCh38)
4:178758527
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177837372:A:T
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_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:
16.
rs1490752317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:177890165
(GRCh38)
4:178811319
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177890164:G:A
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
17.
rs1490725146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:177822560
(GRCh38)
4:178743714
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177822559:C:T
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1490723846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:177905711
(GRCh38)
4:178826865
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177905710:T:C
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490681956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:177838342
(GRCh38)
4:178759496
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177838341:C:T
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490642223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:177829906
(GRCh38)
4:178751060
(GRCh37)
- Canonical SPDI:
- NC_000004.12:177829905:T:C,NC_000004.12:177829905:T:G
- Gene:
- LINC01098 (Varview), LINC01099 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: