Links from Gene
Items: 1 to 20 of 6541
1.
rs1491391465 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:1591309
(GRCh38)
5:1591425
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1591309::G
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00017/2
(
ALFA)
G=0.00449/32
(GnomAD)
- HGVS:
2.
rs1491350667 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:1584801
(GRCh38)
5:1584916
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1584800:AG:
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491225053 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:1574637
(GRCh38)
5:1574752
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1574636:AT:
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491174400 has merged into rs970461081 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 5:1574638
(GRCh38)
5:1574753
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1574637:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:1574637:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00109/2
(Korea1K)
- HGVS:
5.
rs1490977830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:1578162
(GRCh38)
5:1578277
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1578161:GG:G
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490959662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:1586449
(GRCh38)
5:1586564
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1586448:G:A,NC_000005.10:1586448:G:T
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00003/4
(GnomAD)
- HGVS:
7.
rs1490903740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:1590603
(GRCh38)
5:1590718
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1590602:GGG:GG
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490827374 has merged into rs55939408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:1571793
(GRCh38)
5:1571908
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:A,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1571791:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000005.10:g.1571793_1571812del, NC_000005.10:g.1571799_1571812del, NC_000005.10:g.1571800_1571812del, NC_000005.10:g.1571801_1571812del, NC_000005.10:g.1571802_1571812del, NC_000005.10:g.1571803_1571812del, NC_000005.10:g.1571804_1571812del, NC_000005.10:g.1571805_1571812del, NC_000005.10:g.1571807_1571812del, NC_000005.10:g.1571808_1571812del, NC_000005.10:g.1571809_1571812del, NC_000005.10:g.1571810_1571812del, NC_000005.10:g.1571811_1571812del, NC_000005.10:g.1571812del, NC_000005.10:g.1571812dup, NC_000005.10:g.1571811_1571812dup, NC_000005.10:g.1571810_1571812dup, NC_000005.10:g.1571809_1571812dup, NC_000005.10:g.1571808_1571812dup, NC_000005.10:g.1571807_1571812dup, NC_000005.10:g.1571806_1571812dup, NC_000005.10:g.1571805_1571812dup, NC_000005.10:g.1571804_1571812dup, NC_000005.10:g.1571803_1571812dup, NC_000005.10:g.1571802_1571812dup, NC_000005.10:g.1571801_1571812dup, NC_000005.10:g.1571800_1571812dup, NC_000005.10:g.1571799_1571812dup, NC_000005.10:g.1571798_1571812dup, NC_000005.10:g.1571797_1571812dup, NC_000005.10:g.1571796_1571812dup, NC_000005.10:g.1571795_1571812dup, NC_000005.10:g.1571794_1571812dup, NC_000005.10:g.1571793_1571812dup, NC_000005.10:g.1571792_1571812dup, NC_000005.10:g.1571812_1571813insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1571812_1571813insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1571812_1571813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1571812_1571813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1571792_1571812A[32]TACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.1571908_1571927del, NC_000005.9:g.1571914_1571927del, NC_000005.9:g.1571915_1571927del, NC_000005.9:g.1571916_1571927del, NC_000005.9:g.1571917_1571927del, NC_000005.9:g.1571918_1571927del, NC_000005.9:g.1571919_1571927del, NC_000005.9:g.1571920_1571927del, NC_000005.9:g.1571922_1571927del, NC_000005.9:g.1571923_1571927del, NC_000005.9:g.1571924_1571927del, NC_000005.9:g.1571925_1571927del, NC_000005.9:g.1571926_1571927del, NC_000005.9:g.1571927del, NC_000005.9:g.1571927dup, NC_000005.9:g.1571926_1571927dup, NC_000005.9:g.1571925_1571927dup, NC_000005.9:g.1571924_1571927dup, NC_000005.9:g.1571923_1571927dup, NC_000005.9:g.1571922_1571927dup, NC_000005.9:g.1571921_1571927dup, NC_000005.9:g.1571920_1571927dup, NC_000005.9:g.1571919_1571927dup, NC_000005.9:g.1571918_1571927dup, NC_000005.9:g.1571917_1571927dup, NC_000005.9:g.1571916_1571927dup, NC_000005.9:g.1571915_1571927dup, NC_000005.9:g.1571914_1571927dup, NC_000005.9:g.1571913_1571927dup, NC_000005.9:g.1571912_1571927dup, NC_000005.9:g.1571911_1571927dup, NC_000005.9:g.1571910_1571927dup, NC_000005.9:g.1571909_1571927dup, NC_000005.9:g.1571908_1571927dup, NC_000005.9:g.1571907_1571927dup, NC_000005.9:g.1571927_1571928insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1571927_1571928insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1571927_1571928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1571927_1571928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1571907_1571927A[32]TACAAAAAAAAAAAAAAAAAAAAAA[1]
9.
rs1490795713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:1585249
(GRCh38)
5:1585364
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1585248:G:C
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490760790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:1584481
(GRCh38)
5:1584596
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1584480:G:A
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
11.
rs1490711133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:1595564
(GRCh38)
5:1595679
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1595563:T:C
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490657402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:1572976
(GRCh38)
5:1573091
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1572975:T:A
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490641190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:1574905
(GRCh38)
5:1575020
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1574904:C:T
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490487747 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTTT>-
[Show Flanks]
- Chromosome:
- 5:1577767
(GRCh38)
5:1577882
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1577760:TTGTTTTGTTT:TTGTTT
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTGTTT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490432596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:1586770
(GRCh38)
5:1586885
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1586769:C:A,NC_000005.10:1586769:C:T
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00024/4
(TOMMO)
- HGVS:
16.
rs1490398492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:1589663
(GRCh38)
5:1589778
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1589662:G:A
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1490316838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:1576428
(GRCh38)
5:1576543
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1576427:CC:C
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490266226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:1578401
(GRCh38)
5:1578516
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1578400:G:A
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
19.
rs1490252319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:1572612
(GRCh38)
5:1572727
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1572611:T:C
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490174211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 5:1590129
(GRCh38)
5:1590244
(GRCh37)
- Canonical SPDI:
- NC_000005.10:1590128:A:C,NC_000005.10:1590128:A:T
- Gene:
- SDHAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.037302/609
(
ALFA)
T=0.000035/1
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.021667/13
(NorthernSweden)
T=0.037164/238
(1000Genomes)
T=0.042659/5935
(GnomAD)
- HGVS: