SNP Links for Protein (Select 1023301064) - SNP

Links from Protein

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Select item 14909929401.

rs1490992940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:2918494 (GRCh38)
7:2958128 (GRCh37)
Canonical SPDI:: NC_000007.14:2918493:G:T
Gene:: CARD11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.2918494G>T, NC_000007.13:g.2958128G>T, NG_027759.1:g.130382C>A, NM_032415.7:c.2604C>A, NM_032415.6:c.2604C>A, NM_032415.5:c.2604C>A, NM_032415.4:c.2604C>A, NM_001324281.3:c.2604C>A, NM_001324281.2:c.2604C>A, NM_001324281.1:c.2604C>A

Select item 14906894532.

rs1490689453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:2944471 (GRCh38)
7:2984105 (GRCh37)
Canonical SPDI:: NC_000007.14:2944470:A:C,NC_000007.14:2944470:A:G,NC_000007.14:2944470:A:T
Gene:: CARD11 (Varview), CARD11-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2944471A>C, NC_000007.14:g.2944471A>G, NC_000007.14:g.2944471A>T, NC_000007.13:g.2984105A>C, NC_000007.13:g.2984105A>G, NC_000007.13:g.2984105A>T, NG_027759.1:g.104405T>G, NG_027759.1:g.104405T>C, NG_027759.1:g.104405T>A, NM_032415.7:c.425T>G, NM_032415.7:c.425T>C, NM_032415.7:c.425T>A, NM_032415.6:c.425T>G, NM_032415.6:c.425T>C, NM_032415.6:c.425T>A, NM_032415.5:c.425T>G, NM_032415.5:c.425T>C, NM_032415.5:c.425T>A, NM_032415.4:c.425T>G, NM_032415.4:c.425T>C, NM_032415.4:c.425T>A, NM_001324281.3:c.425T>G, NM_001324281.3:c.425T>C, NM_001324281.3:c.425T>A, NM_001324281.2:c.425T>G, NM_001324281.2:c.425T>C, NM_001324281.2:c.425T>A, NM_001324281.1:c.425T>G, NM_001324281.1:c.425T>C, NM_001324281.1:c.425T>A, NP_115791.3:p.Met142Arg, NP_115791.3:p.Met142Thr, NP_115791.3:p.Met142Lys, NP_001311210.1:p.Met142Arg, NP_001311210.1:p.Met142Thr, NP_001311210.1:p.Met142Lys

Select item 14886376213.

rs1488637621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2937946 (GRCh38)
7:2977580 (GRCh37)
Canonical SPDI:: NC_000007.14:2937945:G:A
Gene:: CARD11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2937946G>A, NC_000007.13:g.2977580G>A, NG_027759.1:g.110930C>T, NM_032415.7:c.1104C>T, NM_032415.6:c.1104C>T, NM_032415.5:c.1104C>T, NM_032415.4:c.1104C>T, NM_001324281.3:c.1104C>T, NM_001324281.2:c.1104C>T, NM_001324281.1:c.1104C>T

Select item 14881627204.

rs1488162720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2923278 (GRCh38)
7:2962912 (GRCh37)
Canonical SPDI:: NC_000007.14:2923277:C:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.2923278C>T, NC_000007.13:g.2962912C>T, NG_027759.1:g.125598G>A, NM_032415.7:c.1996G>A, NM_032415.6:c.1996G>A, NM_032415.5:c.1996G>A, NM_032415.4:c.1996G>A, NM_001324281.3:c.1996G>A, NM_001324281.2:c.1996G>A, NM_001324281.1:c.1996G>A, NP_115791.3:p.Val666Met, NP_001311210.1:p.Val666Met

Select item 14875876305.

rs1487587630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:2923144 (GRCh38)
7:2962778 (GRCh37)
Canonical SPDI:: NC_000007.14:2923143:G:A,NC_000007.14:2923143:G:T
Gene:: CARD11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.2923144G>A, NC_000007.14:g.2923144G>T, NC_000007.13:g.2962778G>A, NC_000007.13:g.2962778G>T, NG_027759.1:g.125732C>T, NG_027759.1:g.125732C>A, NM_032415.7:c.2130C>T, NM_032415.7:c.2130C>A, NM_032415.6:c.2130C>T, NM_032415.6:c.2130C>A, NM_032415.5:c.2130C>T, NM_032415.5:c.2130C>A, NM_032415.4:c.2130C>T, NM_032415.4:c.2130C>A, NM_001324281.3:c.2130C>T, NM_001324281.3:c.2130C>A, NM_001324281.2:c.2130C>T, NM_001324281.2:c.2130C>A, NM_001324281.1:c.2130C>T, NM_001324281.1:c.2130C>A, NP_115791.3:p.His710Gln, NP_001311210.1:p.His710Gln

Select item 14866400566.

rs1486640056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:2928598 (GRCh38)
7:2968232 (GRCh37)
Canonical SPDI:: NC_000007.14:2928597:C:G,NC_000007.14:2928597:C:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2928598C>G, NC_000007.14:g.2928598C>T, NC_000007.13:g.2968232C>G, NC_000007.13:g.2968232C>T, NG_027759.1:g.120278G>C, NG_027759.1:g.120278G>A, NM_032415.7:c.1754G>C, NM_032415.7:c.1754G>A, NM_032415.6:c.1754G>C, NM_032415.6:c.1754G>A, NM_032415.5:c.1754G>C, NM_032415.5:c.1754G>A, NM_032415.4:c.1754G>C, NM_032415.4:c.1754G>A, NM_001324281.3:c.1754G>C, NM_001324281.3:c.1754G>A, NM_001324281.2:c.1754G>C, NM_001324281.2:c.1754G>A, NM_001324281.1:c.1754G>C, NM_001324281.1:c.1754G>A, NP_115791.3:p.Ser585Thr, NP_115791.3:p.Ser585Asn, NP_001311210.1:p.Ser585Thr, NP_001311210.1:p.Ser585Asn

Select item 14850342767.

rs1485034276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2937114 (GRCh38)
7:2976748 (GRCh37)
Canonical SPDI:: NC_000007.14:2937113:C:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.2937114C>T, NC_000007.13:g.2976748C>T, NG_027759.1:g.111762G>A, NM_032415.7:c.1264G>A, NM_032415.6:c.1264G>A, NM_032415.5:c.1264G>A, NM_032415.4:c.1264G>A, NM_001324281.3:c.1264G>A, NM_001324281.2:c.1264G>A, NM_001324281.1:c.1264G>A, NP_115791.3:p.Val422Met, NP_001311210.1:p.Val422Met

Select item 14847453508.

rs1484745350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2930040 (GRCh38)
7:2969674 (GRCh37)
Canonical SPDI:: NC_000007.14:2930039:G:A
Gene:: CARD11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.2930040G>A, NC_000007.13:g.2969674G>A, NG_027759.1:g.118836C>T, NM_032415.7:c.1605C>T, NM_032415.6:c.1605C>T, NM_032415.5:c.1605C>T, NM_032415.4:c.1605C>T, NM_001324281.3:c.1605C>T, NM_001324281.2:c.1605C>T, NM_001324281.1:c.1605C>T

Select item 14843095189.

rs1484309518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2937097 (GRCh38)
7:2976731 (GRCh37)
Canonical SPDI:: NC_000007.14:2937096:G:A
Gene:: CARD11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.2937097G>A, NC_000007.13:g.2976731G>A, NG_027759.1:g.111779C>T, NM_032415.7:c.1281C>T, NM_032415.6:c.1281C>T, NM_032415.5:c.1281C>T, NM_032415.4:c.1281C>T, NM_001324281.3:c.1281C>T, NM_001324281.2:c.1281C>T, NM_001324281.1:c.1281C>T

Select item 148208889310.

rs1482088893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:2928663 (GRCh38)
7:2968297 (GRCh37)
Canonical SPDI:: NC_000007.14:2928662:G:A,NC_000007.14:2928662:G:C
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2928663G>A, NC_000007.14:g.2928663G>C, NC_000007.13:g.2968297G>A, NC_000007.13:g.2968297G>C, NG_027759.1:g.120213C>T, NG_027759.1:g.120213C>G, NM_032415.7:c.1689C>T, NM_032415.7:c.1689C>G, NM_032415.6:c.1689C>T, NM_032415.6:c.1689C>G, NM_032415.5:c.1689C>T, NM_032415.5:c.1689C>G, NM_032415.4:c.1689C>T, NM_032415.4:c.1689C>G, NM_001324281.3:c.1689C>T, NM_001324281.3:c.1689C>G, NM_001324281.2:c.1689C>T, NM_001324281.2:c.1689C>G, NM_001324281.1:c.1689C>T, NM_001324281.1:c.1689C>G, NP_115791.3:p.Ile563Met, NP_001311210.1:p.Ile563Met

Select item 148169385511.

rs1481693855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:2913412 (GRCh38)
7:2953046 (GRCh37)
Canonical SPDI:: NC_000007.14:2913411:A:G
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2913412A>G, NC_000007.13:g.2953046A>G, NG_027759.1:g.135464T>C, NM_032415.7:c.2894T>C, NM_032415.6:c.2894T>C, NM_032415.5:c.2894T>C, NM_032415.4:c.2894T>C, NM_001324281.3:c.2894T>C, NM_001324281.2:c.2894T>C, NM_001324281.1:c.2894T>C, NP_115791.3:p.Leu965Pro, NP_001311210.1:p.Leu965Pro

Select item 148032334912.

rs1480323349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:2939847 (GRCh38)
7:2979481 (GRCh37)
Canonical SPDI:: NC_000007.14:2939846:C:A,NC_000007.14:2939846:C:G,NC_000007.14:2939846:C:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.2939847C>A, NC_000007.14:g.2939847C>G, NC_000007.14:g.2939847C>T, NC_000007.13:g.2979481C>A, NC_000007.13:g.2979481C>G, NC_000007.13:g.2979481C>T, NG_027759.1:g.109029G>T, NG_027759.1:g.109029G>C, NG_027759.1:g.109029G>A, NM_032415.7:c.766G>T, NM_032415.7:c.766G>C, NM_032415.7:c.766G>A, NM_032415.6:c.766G>T, NM_032415.6:c.766G>C, NM_032415.6:c.766G>A, NM_032415.5:c.766G>T, NM_032415.5:c.766G>C, NM_032415.5:c.766G>A, NM_032415.4:c.766G>T, NM_032415.4:c.766G>C, NM_032415.4:c.766G>A, NM_001324281.3:c.766G>T, NM_001324281.3:c.766G>C, NM_001324281.3:c.766G>A, NM_001324281.2:c.766G>T, NM_001324281.2:c.766G>C, NM_001324281.2:c.766G>A, NM_001324281.1:c.766G>T, NM_001324281.1:c.766G>C, NM_001324281.1:c.766G>A, NP_115791.3:p.Asp256Tyr, NP_115791.3:p.Asp256His, NP_115791.3:p.Asp256Asn, NP_001311210.1:p.Asp256Tyr, NP_001311210.1:p.Asp256His, NP_001311210.1:p.Asp256Asn

Select item 147834147513.

rs1478341475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:2939901 (GRCh38)
7:2979535 (GRCh37)
Canonical SPDI:: NC_000007.14:2939900:T:A,NC_000007.14:2939900:T:G
Gene:: CARD11 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2939901T>A, NC_000007.14:g.2939901T>G, NC_000007.13:g.2979535T>A, NC_000007.13:g.2979535T>G, NG_027759.1:g.108975A>T, NG_027759.1:g.108975A>C, NM_032415.7:c.712A>T, NM_032415.7:c.712A>C, NM_032415.6:c.712A>T, NM_032415.6:c.712A>C, NM_032415.5:c.712A>T, NM_032415.5:c.712A>C, NM_032415.4:c.712A>T, NM_032415.4:c.712A>C, NM_001324281.3:c.712A>T, NM_001324281.3:c.712A>C, NM_001324281.2:c.712A>T, NM_001324281.2:c.712A>C, NM_001324281.1:c.712A>T, NM_001324281.1:c.712A>C, NP_115791.3:p.Lys238Ter, NP_115791.3:p.Lys238Gln, NP_001311210.1:p.Lys238Ter, NP_001311210.1:p.Lys238Gln

Select item 147754900314.

rs1477549003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:2939885 (GRCh38)
7:2979519 (GRCh37)
Canonical SPDI:: NC_000007.14:2939884:C:A,NC_000007.14:2939884:C:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2939885C>A, NC_000007.14:g.2939885C>T, NC_000007.13:g.2979519C>A, NC_000007.13:g.2979519C>T, NG_027759.1:g.108991G>T, NG_027759.1:g.108991G>A, NM_032415.7:c.728G>T, NM_032415.7:c.728G>A, NM_032415.6:c.728G>T, NM_032415.6:c.728G>A, NM_032415.5:c.728G>T, NM_032415.5:c.728G>A, NM_032415.4:c.728G>T, NM_032415.4:c.728G>A, NM_001324281.3:c.728G>T, NM_001324281.3:c.728G>A, NM_001324281.2:c.728G>T, NM_001324281.2:c.728G>A, NM_001324281.1:c.728G>T, NM_001324281.1:c.728G>A, NP_115791.3:p.Cys243Phe, NP_115791.3:p.Cys243Tyr, NP_001311210.1:p.Cys243Phe, NP_001311210.1:p.Cys243Tyr

Select item 147712274815.

rs1477122748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:2919507 (GRCh38)
7:2959141 (GRCh37)
Canonical SPDI:: NC_000007.14:2919506:G:C,NC_000007.14:2919506:G:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.2919507G>C, NC_000007.14:g.2919507G>T, NC_000007.13:g.2959141G>C, NC_000007.13:g.2959141G>T, NG_027759.1:g.129369C>G, NG_027759.1:g.129369C>A, NM_032415.7:c.2375C>G, NM_032415.7:c.2375C>A, NM_032415.6:c.2375C>G, NM_032415.6:c.2375C>A, NM_032415.5:c.2375C>G, NM_032415.5:c.2375C>A, NM_032415.4:c.2375C>G, NM_032415.4:c.2375C>A, NM_001324281.3:c.2375C>G, NM_001324281.3:c.2375C>A, NM_001324281.2:c.2375C>G, NM_001324281.2:c.2375C>A, NM_001324281.1:c.2375C>G, NM_001324281.1:c.2375C>A, NP_115791.3:p.Thr792Ser, NP_115791.3:p.Thr792Asn, NP_001311210.1:p.Thr792Ser, NP_001311210.1:p.Thr792Asn

Select item 147711608616.

rs1477116086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:2910129 (GRCh38)
7:2949763 (GRCh37)
Canonical SPDI:: NC_000007.14:2910128:T:A
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2910129T>A, NC_000007.13:g.2949763T>A, NG_027759.1:g.138747A>T, NM_032415.7:c.3181A>T, NM_032415.6:c.3181A>T, NM_032415.5:c.3181A>T, NM_032415.4:c.3181A>T, NM_001324281.3:c.3181A>T, NM_001324281.2:c.3181A>T, NM_001324281.1:c.3181A>T, NP_115791.3:p.Thr1061Ser, NP_001311210.1:p.Thr1061Ser

Select item 147670664017.

rs1476706640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2944416 (GRCh38)
7:2984050 (GRCh37)
Canonical SPDI:: NC_000007.14:2944415:C:T
Gene:: CARD11 (Varview), CARD11-AS1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2944416C>T, NC_000007.13:g.2984050C>T, NG_027759.1:g.104460G>A, NM_032415.7:c.480G>A, NM_032415.6:c.480G>A, NM_032415.5:c.480G>A, NM_032415.4:c.480G>A, NM_001324281.3:c.480G>A, NM_001324281.2:c.480G>A, NM_001324281.1:c.480G>A

Select item 147572742818.

rs1475727428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:2926759 (GRCh38)
7:2966393 (GRCh37)
Canonical SPDI:: NC_000007.14:2926758:A:C
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2926759A>C, NC_000007.13:g.2966393A>C, NG_027759.1:g.122117T>G, NM_032415.7:c.1787T>G, NM_032415.6:c.1787T>G, NM_032415.5:c.1787T>G, NM_032415.4:c.1787T>G, NM_001324281.3:c.1787T>G, NM_001324281.2:c.1787T>G, NM_001324281.1:c.1787T>G, NP_115791.3:p.Phe596Cys, NP_001311210.1:p.Phe596Cys

Select item 147521977119.

rs1475219771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:2924253 (GRCh38)
7:2963887 (GRCh37)
Canonical SPDI:: NC_000007.14:2924252:G:T
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2924253G>T, NC_000007.13:g.2963887G>T, NG_027759.1:g.124623C>A, NM_032415.7:c.1920C>A, NM_032415.6:c.1920C>A, NM_032415.5:c.1920C>A, NM_032415.4:c.1920C>A, NM_001324281.3:c.1920C>A, NM_001324281.2:c.1920C>A, NM_001324281.1:c.1920C>A, NP_115791.3:p.Phe640Leu, NP_001311210.1:p.Phe640Leu

Select item 147474465720.

rs1474744657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:2938702 (GRCh38)
7:2978336 (GRCh37)
Canonical SPDI:: NC_000007.14:2938701:G:A,NC_000007.14:2938701:G:C
Gene:: CARD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2938702G>A, NC_000007.14:g.2938702G>C, NC_000007.13:g.2978336G>A, NC_000007.13:g.2978336G>C, NG_027759.1:g.110174C>T, NG_027759.1:g.110174C>G, NM_032415.7:c.994C>T, NM_032415.7:c.994C>G, NM_032415.6:c.994C>T, NM_032415.6:c.994C>G, NM_032415.5:c.994C>T, NM_032415.5:c.994C>G, NM_032415.4:c.994C>T, NM_032415.4:c.994C>G, NM_001324281.3:c.994C>T, NM_001324281.3:c.994C>G, NM_001324281.2:c.994C>T, NM_001324281.2:c.994C>G, NM_001324281.1:c.994C>T, NM_001324281.1:c.994C>G, NP_115791.3:p.Gln332Ter, NP_115791.3:p.Gln332Glu, NP_001311210.1:p.Gln332Ter, NP_001311210.1:p.Gln332Glu

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