SNP Links for Gene (Select 6337) - SNP

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Select item 14915844011.

rs1491584401 has merged into rs397850777 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:6369845 (GRCh38)
12:6479011 (GRCh37)
Canonical SPDI:: NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6369833:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6369845_6369855del, NC_000012.12:g.6369848_6369855del, NC_000012.12:g.6369849_6369855del, NC_000012.12:g.6369850_6369855del, NC_000012.12:g.6369851_6369855del, NC_000012.12:g.6369852_6369855del, NC_000012.12:g.6369853_6369855del, NC_000012.12:g.6369854_6369855del, NC_000012.12:g.6369855del, NC_000012.12:g.6369855dup, NC_000012.12:g.6369854_6369855dup, NC_000012.12:g.6369853_6369855dup, NC_000012.12:g.6369852_6369855dup, NC_000012.12:g.6369851_6369855dup, NC_000012.12:g.6369850_6369855dup, NC_000012.12:g.6369839_6369855dup, NC_000012.12:g.6369838_6369855dup, NC_000012.11:g.6479011_6479021del, NC_000012.11:g.6479014_6479021del, NC_000012.11:g.6479015_6479021del, NC_000012.11:g.6479016_6479021del, NC_000012.11:g.6479017_6479021del, NC_000012.11:g.6479018_6479021del, NC_000012.11:g.6479019_6479021del, NC_000012.11:g.6479020_6479021del, NC_000012.11:g.6479021del, NC_000012.11:g.6479021dup, NC_000012.11:g.6479020_6479021dup, NC_000012.11:g.6479019_6479021dup, NC_000012.11:g.6479018_6479021dup, NC_000012.11:g.6479017_6479021dup, NC_000012.11:g.6479016_6479021dup, NC_000012.11:g.6479005_6479021dup, NC_000012.11:g.6479004_6479021dup, NG_011945.2:g.12514_12524del, NG_011945.2:g.12517_12524del, NG_011945.2:g.12518_12524del, NG_011945.2:g.12519_12524del, NG_011945.2:g.12520_12524del, NG_011945.2:g.12521_12524del, NG_011945.2:g.12522_12524del, NG_011945.2:g.12523_12524del, NG_011945.2:g.12524del, NG_011945.2:g.12524dup, NG_011945.2:g.12523_12524dup, NG_011945.2:g.12522_12524dup, NG_011945.2:g.12521_12524dup, NG_011945.2:g.12520_12524dup, NG_011945.2:g.12519_12524dup, NG_011945.2:g.12508_12524dup, NG_011945.2:g.12507_12524dup

Select item 14915431332.

rs1491543133 has merged into rs35673511 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:6358868 (GRCh38)
12:6468034 (GRCh37)
Canonical SPDI:: NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCNN1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6358868_6358879del, NC_000012.12:g.6358869_6358879del, NC_000012.12:g.6358874_6358879del, NC_000012.12:g.6358875_6358879del, NC_000012.12:g.6358876_6358879del, NC_000012.12:g.6358877_6358879del, NC_000012.12:g.6358878_6358879del, NC_000012.12:g.6358879del, NC_000012.12:g.6358879dup, NC_000012.12:g.6358878_6358879dup, NC_000012.12:g.6358877_6358879dup, NC_000012.12:g.6358876_6358879dup, NC_000012.12:g.6358875_6358879dup, NC_000012.12:g.6358874_6358879dup, NC_000012.11:g.6468034_6468045del, NC_000012.11:g.6468035_6468045del, NC_000012.11:g.6468040_6468045del, NC_000012.11:g.6468041_6468045del, NC_000012.11:g.6468042_6468045del, NC_000012.11:g.6468043_6468045del, NC_000012.11:g.6468044_6468045del, NC_000012.11:g.6468045del, NC_000012.11:g.6468045dup, NC_000012.11:g.6468044_6468045dup, NC_000012.11:g.6468043_6468045dup, NC_000012.11:g.6468042_6468045dup, NC_000012.11:g.6468041_6468045dup, NC_000012.11:g.6468040_6468045dup, NG_011945.2:g.23487_23498del, NG_011945.2:g.23488_23498del, NG_011945.2:g.23493_23498del, NG_011945.2:g.23494_23498del, NG_011945.2:g.23495_23498del, NG_011945.2:g.23496_23498del, NG_011945.2:g.23497_23498del, NG_011945.2:g.23498del, NG_011945.2:g.23498dup, NG_011945.2:g.23497_23498dup, NG_011945.2:g.23496_23498dup, NG_011945.2:g.23495_23498dup, NG_011945.2:g.23494_23498dup, NG_011945.2:g.23493_23498dup

Select item 14912634713.

rs1491263471 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:6358859 (GRCh38)
12:6468025 (GRCh37)
Canonical SPDI:: NC_000012.12:6358858:CA:
Gene:: SCNN1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0027/32 (ALFA)
HGVS:: NC_000012.12:g.6358859_6358860del, NC_000012.11:g.6468025_6468026del, NG_011945.2:g.23498_23499del

Select item 14912426014.

rs1491242601 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:6369833 (GRCh38)
12:6478999 (GRCh37)
Canonical SPDI:: NC_000012.12:6369832:CA:
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.6369833_6369834del, NC_000012.11:g.6478999_6479000del, NG_011945.2:g.12524_12525del

Select item 14910752785.

rs1491075278 has merged into rs34075843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:6364775 (GRCh38)
12:6473941 (GRCh37)
Canonical SPDI:: NC_000012.12:6364761:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:6364761:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6364761:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6364761:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.353/1768 (1000Genomes)
HGVS:: NC_000012.12:g.6364775_6364776del, NC_000012.12:g.6364776del, NC_000012.12:g.6364776dup, NC_000012.12:g.6364775_6364776dup, NC_000012.11:g.6473941_6473942del, NC_000012.11:g.6473942del, NC_000012.11:g.6473942dup, NC_000012.11:g.6473941_6473942dup, NG_011945.2:g.17595_17596del, NG_011945.2:g.17596del, NG_011945.2:g.17596dup, NG_011945.2:g.17595_17596dup

Select item 14910721986.

rs1491072198 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:6358878 (GRCh38)
12:6468045 (GRCh37)
Canonical SPDI:: NC_000012.12:6358878::G
Gene:: SCNN1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.6358878_6358879insG, NC_000012.11:g.6468044_6468045insG, NG_011945.2:g.23479_23480insC

Select item 14907315817.

rs1490731581 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:6348530 (GRCh38)
12:6457696 (GRCh37)
Canonical SPDI:: NC_000012.12:6348529:CCCCC:CCCC
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000045/3 (GnomAD)
HGVS:: NC_000012.12:g.6348534del, NC_000012.11:g.6457700del, NG_011945.2:g.33828del

Select item 14906367558.

rs1490636755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6363083 (GRCh38)
12:6472249 (GRCh37)
Canonical SPDI:: NC_000012.12:6363082:T:C
Gene:: SCNN1A (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:: NC_000012.12:g.6363083T>C, NC_000012.11:g.6472249T>C, NG_011945.2:g.19275A>G

Select item 14905256899.

rs1490525689 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:6348420 (GRCh38)
12:6457586 (GRCh37)
Canonical SPDI:: NC_000012.12:6348419:A:
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.6348420del, NC_000012.11:g.6457586del, NG_011945.2:g.33938del

Select item 149045235910.

rs1490452359 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,GT [Show Flanks]
Chromosome:: 12:6353685 (GRCh38)
12:6462852 (GRCh37)
Canonical SPDI:: NC_000012.12:6353685::A,NC_000012.12:6353685::GT
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0.00105/17 (ALFA)
A=0.00001/1 (GnomAD)
GT=0.0276/44 (Korea1K)
HGVS:: NC_000012.12:g.6353685_6353686insA, NC_000012.12:g.6353685_6353686insGT, NC_000012.11:g.6462851_6462852insA, NC_000012.11:g.6462851_6462852insGT, NG_011945.2:g.28672_28673insT, NG_011945.2:g.28672_28673insAC

Select item 148993236911.

rs1489932369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:6356094 (GRCh38)
12:6465260 (GRCh37)
Canonical SPDI:: NC_000012.12:6356093:G:A,NC_000012.12:6356093:G:C,NC_000012.12:6356093:G:T
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.6356094G>A, NC_000012.12:g.6356094G>C, NC_000012.12:g.6356094G>T, NC_000012.11:g.6465260G>A, NC_000012.11:g.6465260G>C, NC_000012.11:g.6465260G>T, NG_011945.2:g.26264C>T, NG_011945.2:g.26264C>G, NG_011945.2:g.26264C>A

Select item 148991245512.

rs1489912455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6369466 (GRCh38)
12:6478632 (GRCh37)
Canonical SPDI:: NC_000012.12:6369465:G:C
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.6369466G>C, NC_000012.11:g.6478632G>C, NG_011945.2:g.12892C>G

Select item 148967514813.

rs1489675148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6374881 (GRCh38)
12:6484047 (GRCh37)
Canonical SPDI:: NC_000012.12:6374880:T:C
Gene:: LTBR (Varview), SCNN1A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6374881T>C, NC_000012.11:g.6484047T>C, NG_011945.2:g.7477A>G, NM_001159576.2:c.80A>G, NM_001159576.1:c.80A>G, NG_033039.2:g.4514T>C, NP_001153048.1:p.Asp27Gly

Select item 148961213414.

rs1489612134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6363683 (GRCh38)
12:6472849 (GRCh37)
Canonical SPDI:: NC_000012.12:6363682:C:T
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6363683C>T, NC_000012.11:g.6472849C>T, NG_011945.2:g.18675G>A, NM_001038.6:c.444G>A, NM_001038.5:c.444G>A, NM_001159576.2:c.621G>A, NM_001159576.1:c.621G>A, NM_001159575.2:c.513G>A, NM_001159575.1:c.513G>A

Select item 148956066015.

rs1489560660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6350774 (GRCh38)
12:6459940 (GRCh37)
Canonical SPDI:: NC_000012.12:6350773:T:C
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.6350774T>C, NC_000012.11:g.6459940T>C, NG_011945.2:g.31584A>G

Select item 148953435316.

rs1489534353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:6363732 (GRCh38)
12:6472898 (GRCh37)
Canonical SPDI:: NC_000012.12:6363731:G:A,NC_000012.12:6363731:G:T
Gene:: SCNN1A (Varview), LOC105369626 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.6363732G>A, NC_000012.12:g.6363732G>T, NC_000012.11:g.6472898G>A, NC_000012.11:g.6472898G>T, NG_011945.2:g.18626C>T, NG_011945.2:g.18626C>A

Select item 148931928517.

rs1489319285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6376831 (GRCh38)
12:6485997 (GRCh37)
Canonical SPDI:: NC_000012.12:6376830:C:T
Gene:: LTBR (Varview), SCNN1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_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_000012.12:g.6376831C>T, NC_000012.11:g.6485997C>T, NG_011945.2:g.5527G>A, NG_033039.2:g.6464C>T

Select item 148930029318.

rs1489300293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6349876 (GRCh38)
12:6459042 (GRCh37)
Canonical SPDI:: NC_000012.12:6349875:G:A
Gene:: SCNN1A (Varview), LOC107984500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.6349876G>A, NC_000012.11:g.6459042G>A, NG_011945.2:g.32482C>T

Select item 148927802519.

rs1489278025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6374899 (GRCh38)
12:6484065 (GRCh37)
Canonical SPDI:: NC_000012.12:6374898:C:A
Gene:: LTBR (Varview), SCNN1A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6374899C>A, NC_000012.11:g.6484065C>A, NG_011945.2:g.7459G>T, NM_001159576.2:c.62G>T, NM_001159576.1:c.62G>T, NG_033039.2:g.4532C>A, NP_001153048.1:p.Gly21Val

Select item 148919796120.

rs1489197961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6351513 (GRCh38)
12:6460679 (GRCh37)
Canonical SPDI:: NC_000012.12:6351512:G:C
Gene:: SCNN1A (Varview), LOC107984500 (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:: NC_000012.12:g.6351513G>C, NC_000012.11:g.6460679G>C, NG_011945.2:g.30845C>G

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