Links from Gene
Items: 1 to 20 of 1000
1.
rs1491574546 has merged into rs755087586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:48992671
(GRCh38)
3:49030104
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.48992671_48992683del, NC_000003.12:g.48992672_48992683del, NC_000003.12:g.48992676_48992683del, NC_000003.12:g.48992677_48992683del, NC_000003.12:g.48992679_48992683del, NC_000003.12:g.48992680_48992683del, NC_000003.12:g.48992681_48992683del, NC_000003.12:g.48992682_48992683del, NC_000003.12:g.48992683del, NC_000003.12:g.48992683dup, NC_000003.12:g.48992682_48992683dup, NC_000003.12:g.48992681_48992683dup, NC_000003.11:g.49030104_49030116del, NC_000003.11:g.49030105_49030116del, NC_000003.11:g.49030109_49030116del, NC_000003.11:g.49030110_49030116del, NC_000003.11:g.49030112_49030116del, NC_000003.11:g.49030113_49030116del, NC_000003.11:g.49030114_49030116del, NC_000003.11:g.49030115_49030116del, NC_000003.11:g.49030116del, NC_000003.11:g.49030116dup, NC_000003.11:g.49030115_49030116dup, NC_000003.11:g.49030114_49030116dup
2.
rs1491421878 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAA
[Show Flanks]
- Chromosome:
- 3:48988899
(GRCh38)
3:49026333
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48988899::AAA
- Gene:
- P4HTM (Varview), LOC124909376 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AAA=0.00011/3
(TOMMO)
AAA=0.00086/30
(GnomAD)
- HGVS:
3.
rs1491168715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTT
[Show Flanks]
- Chromosome:
- 3:48992663
(GRCh38)
3:49030097
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48992663:TTTTT:TTTTTCTTTTT
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTCTTTTT=0./0
(
ALFA)
TTTTTC=0.00022/1
(GnomAD)
- HGVS:
4.
rs1491030216 has merged into rs60867672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:48993869
(GRCh38)
3:49031302
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.48993869_48993880del, NC_000003.12:g.48993870_48993880del, NC_000003.12:g.48993873_48993880del, NC_000003.12:g.48993877_48993880del, NC_000003.12:g.48993878_48993880del, NC_000003.12:g.48993879_48993880del, NC_000003.12:g.48993880del, NC_000003.12:g.48993880dup, NC_000003.12:g.48993879_48993880dup, NC_000003.12:g.48993878_48993880dup, NC_000003.12:g.48993877_48993880dup, NC_000003.12:g.48993876_48993880dup, NC_000003.12:g.48993875_48993880dup, NC_000003.12:g.48993874_48993880dup, NC_000003.12:g.48993873_48993880dup, NC_000003.12:g.48993872_48993880dup, NC_000003.12:g.48993871_48993880dup, NC_000003.12:g.48993870_48993880dup, NC_000003.12:g.48993869_48993880dup, NC_000003.12:g.48993860_48993880A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.49031302_49031313del, NC_000003.11:g.49031303_49031313del, NC_000003.11:g.49031306_49031313del, NC_000003.11:g.49031310_49031313del, NC_000003.11:g.49031311_49031313del, NC_000003.11:g.49031312_49031313del, NC_000003.11:g.49031313del, NC_000003.11:g.49031313dup, NC_000003.11:g.49031312_49031313dup, NC_000003.11:g.49031311_49031313dup, NC_000003.11:g.49031310_49031313dup, NC_000003.11:g.49031309_49031313dup, NC_000003.11:g.49031308_49031313dup, NC_000003.11:g.49031307_49031313dup, NC_000003.11:g.49031306_49031313dup, NC_000003.11:g.49031305_49031313dup, NC_000003.11:g.49031304_49031313dup, NC_000003.11:g.49031303_49031313dup, NC_000003.11:g.49031302_49031313dup, NC_000003.11:g.49031293_49031313A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491001319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:49001348
(GRCh38)
3:49038781
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49001347:A:G
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
6.
rs1490862335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:48993549
(GRCh38)
3:49030982
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48993548:A:G
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490558107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:48993646
(GRCh38)
3:49031079
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48993645:G:T
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490506573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:49004281
(GRCh38)
3:49041714
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49004280:T:C
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000111/1
(
ALFA)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
9.
rs1490232422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:48992665
(GRCh38)
3:49030098
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48992664:T:A
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
10.
rs1490214371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:48990878
(GRCh38)
3:49028311
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48990877:T:C
- Gene:
- P4HTM (Varview), LOC124909376 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.48990878T>C, NC_000003.11:g.49028311T>C, NM_017732.3:c.400T>C, NM_177939.3:c.400T>C, NM_177939.2:c.400T>C, NM_017732.2:c.400T>C, NM_177938.2:c.400T>C, NM_017732.1:c.-93T>C, XM_047448367.1:c.400T>C, XR_007095696.1:n.416T>C, NP_808808.1:p.Phe134Leu, NP_808807.2:p.Phe134Leu, XP_047304323.1:p.Phe134Leu
11.
rs1490157248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49002054
(GRCh38)
3:49039487
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49002053:G:A
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_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:
12.
rs1489742033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:48997006
(GRCh38)
3:49034439
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48997005:C:G,NC_000003.12:48997005:C:T
- Gene:
- P4HTM (Varview), LOC124906235 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489680084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:48993126
(GRCh38)
3:49030559
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48993125:G:A
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489640758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:48994852
(GRCh38)
3:49032285
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48994851:T:C
- Gene:
- P4HTM (Varview), LOC124906235 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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:
15.
rs1489468318 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTT>-
[Show Flanks]
- Chromosome:
- 3:48999824
(GRCh38)
3:49037257
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48999816:TTTCTTTCTTT:TTTCTTT
- Gene:
- P4HTM (Varview), LOC124906235 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCTTT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
16.
rs1489415967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:48991472
(GRCh38)
3:49028905
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48991471:G:A
- Gene:
- P4HTM (Varview), LOC124909376 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_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.
rs1489364688 has merged into rs755087586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:48992671
(GRCh38)
3:49030104
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48992662:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.48992671_48992683del, NC_000003.12:g.48992672_48992683del, NC_000003.12:g.48992676_48992683del, NC_000003.12:g.48992677_48992683del, NC_000003.12:g.48992679_48992683del, NC_000003.12:g.48992680_48992683del, NC_000003.12:g.48992681_48992683del, NC_000003.12:g.48992682_48992683del, NC_000003.12:g.48992683del, NC_000003.12:g.48992683dup, NC_000003.12:g.48992682_48992683dup, NC_000003.12:g.48992681_48992683dup, NC_000003.11:g.49030104_49030116del, NC_000003.11:g.49030105_49030116del, NC_000003.11:g.49030109_49030116del, NC_000003.11:g.49030110_49030116del, NC_000003.11:g.49030112_49030116del, NC_000003.11:g.49030113_49030116del, NC_000003.11:g.49030114_49030116del, NC_000003.11:g.49030115_49030116del, NC_000003.11:g.49030116del, NC_000003.11:g.49030116dup, NC_000003.11:g.49030115_49030116dup, NC_000003.11:g.49030114_49030116dup
18.
rs1489222232 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 3:49004948
(GRCh38)
3:49042381
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49004947:CC:C
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.49004949del, NC_000003.11:g.49042382del, NG_029915.1:g.2746del, NM_017732.3:c.976del, NM_177939.3:c.976del, NM_177939.2:c.976del, NM_017732.2:c.976del, NM_177938.2:c.976del, NM_017732.1:c.484del, XM_047448368.1:c.223del, XR_007095696.1:n.1047del, NP_808808.1:p.His326fs, NP_808807.2:p.His326fs, XP_047304324.1:p.His75fs
19.
rs1489128548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:49004072
(GRCh38)
3:49041505
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49004071:G:C,NC_000003.12:49004071:G:T
- Gene:
- P4HTM (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489096899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:48999342
(GRCh38)
3:49036775
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48999341:G:A
- Gene:
- P4HTM (Varview), LOC124906235 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: