SNP Links for Protein (Select 5453976) - SNP

Select item 14898929261.

rs1489892926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6464318 (GRCh38)
10:6506280 (GRCh37)
Canonical SPDI:: NC_000010.11:6464317:T:C
Gene:: PRKCQ (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000010.11:g.6464318T>C, NC_000010.10:g.6506280T>C, XM_005252496.5:c.1542A>G, XM_005252496.4:c.1542A>G, XM_005252496.3:c.1542A>G, XM_005252496.2:c.1542A>G, XM_005252496.1:c.1542A>G, NM_006257.5:c.1440A>G, NM_006257.4:c.1440A>G, NM_006257.3:c.1440A>G, XM_005252497.5:c.1542A>G, XM_005252497.4:c.1542A>G, XM_005252497.3:c.1542A>G, XM_005252497.2:c.1542A>G, XM_005252497.1:c.1542A>G, NM_001282644.2:c.1332A>G, NM_001282644.1:c.1332A>G, NM_001323266.2:c.1065A>G, NM_001323266.1:c.1065A>G, NM_001242413.2:c.1440A>G, NM_001242413.1:c.1440A>G, NM_001323267.2:c.1332A>G, NM_001323267.1:c.1332A>G, NM_001323265.1:c.1440A>G, NM_001282645.1:c.1065A>G

Select item 14861181162.

rs1486118116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6511088 (GRCh38)
10:6553050 (GRCh37)
Canonical SPDI:: NC_000010.11:6511087:T:C
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6511088T>C, NC_000010.10:g.6553050T>C, XM_005252496.5:c.327A>G, XM_005252496.4:c.327A>G, XM_005252496.3:c.327A>G, XM_005252496.2:c.327A>G, XM_005252496.1:c.327A>G, NM_006257.5:c.225A>G, NM_006257.4:c.225A>G, NM_006257.3:c.225A>G, XM_005252497.5:c.327A>G, XM_005252497.4:c.327A>G, XM_005252497.3:c.327A>G, XM_005252497.2:c.327A>G, XM_005252497.1:c.327A>G, NM_001282644.2:c.117A>G, NM_001282644.1:c.117A>G, NM_001323266.2:c.-90A>G, NM_001323266.1:c.-90A>G, NM_001242413.2:c.225A>G, NM_001242413.1:c.225A>G, NM_001323267.2:c.117A>G, NM_001323267.1:c.117A>G, NM_001323265.1:c.225A>G, NM_001282645.1:c.-90A>G

Select item 14845943583.

rs1484594358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:6456744 (GRCh38)
10:6498706 (GRCh37)
Canonical SPDI:: NC_000010.11:6456743:C:A
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.6456744C>A, NC_000010.10:g.6498706C>A, XM_005252496.5:c.1679G>T, XM_005252496.4:c.1679G>T, XM_005252496.3:c.1679G>T, XM_005252496.2:c.1679G>T, XM_005252496.1:c.1679G>T, NM_006257.5:c.1577G>T, NM_006257.4:c.1577G>T, NM_006257.3:c.1577G>T, XM_005252497.5:c.1679G>T, XM_005252497.4:c.1679G>T, XM_005252497.3:c.1679G>T, XM_005252497.2:c.1679G>T, XM_005252497.1:c.1679G>T, NM_001282644.2:c.1469G>T, NM_001282644.1:c.1469G>T, NM_001323266.2:c.1202G>T, NM_001323266.1:c.1202G>T, NM_001242413.2:c.1577G>T, NM_001242413.1:c.1577G>T, NM_001323267.2:c.1469G>T, NM_001323267.1:c.1469G>T, NM_001323265.1:c.1577G>T, NM_001282645.1:c.1202G>T, XP_005252553.1:p.Cys560Phe, NP_006248.1:p.Cys526Phe, XP_005252554.1:p.Cys560Phe, NP_001269573.1:p.Cys490Phe, NP_001310195.1:p.Cys401Phe, NP_001229342.1:p.Cys526Phe, NP_001310196.1:p.Cys490Phe, NP_001310194.1:p.Cys526Phe, NP_001269574.1:p.Cys401Phe

Select item 14845390004.

rs1484539000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:6497111 (GRCh38)
10:6539073 (GRCh37)
Canonical SPDI:: NC_000010.11:6497110:G:A
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.6497111G>A, NC_000010.10:g.6539073G>A, XM_005252496.5:c.686C>T, XM_005252496.4:c.686C>T, XM_005252496.3:c.686C>T, XM_005252496.2:c.686C>T, XM_005252496.1:c.686C>T, NM_006257.5:c.584C>T, NM_006257.4:c.584C>T, NM_006257.3:c.584C>T, XM_005252497.5:c.686C>T, XM_005252497.4:c.686C>T, XM_005252497.3:c.686C>T, XM_005252497.2:c.686C>T, XM_005252497.1:c.686C>T, NM_001282644.2:c.476C>T, NM_001282644.1:c.476C>T, NM_001323266.2:c.209C>T, NM_001323266.1:c.209C>T, NM_001242413.2:c.584C>T, NM_001242413.1:c.584C>T, NM_001323267.2:c.476C>T, NM_001323267.1:c.476C>T, NM_001323265.1:c.584C>T, NM_001282645.1:c.209C>T, XP_005252553.1:p.Ala229Val, NP_006248.1:p.Ala195Val, XP_005252554.1:p.Ala229Val, NP_001269573.1:p.Ala159Val, NP_001310195.1:p.Ala70Val, NP_001229342.1:p.Ala195Val, NP_001310196.1:p.Ala159Val, NP_001310194.1:p.Ala195Val, NP_001269574.1:p.Ala70Val

Select item 14807745965.

rs1480774596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:6430901 (GRCh38)
10:6472863 (GRCh37)
Canonical SPDI:: NC_000010.11:6430900:C:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.6430901C>T, NC_000010.10:g.6472863C>T, XM_005252496.5:c.1976G>A, XM_005252496.4:c.1976G>A, XM_005252496.3:c.1976G>A, XM_005252496.2:c.1976G>A, XM_005252496.1:c.1976G>A, NM_006257.5:c.1874G>A, NM_006257.4:c.1874G>A, NM_006257.3:c.1874G>A, XM_005252497.5:c.1976G>A, XM_005252497.4:c.1976G>A, XM_005252497.3:c.1976G>A, XM_005252497.2:c.1976G>A, XM_005252497.1:c.1976G>A, NM_001282644.2:c.1766G>A, NM_001282644.1:c.1766G>A, NM_001323266.2:c.1499G>A, NM_001323266.1:c.1499G>A, NM_001242413.2:c.1685G>A, NM_001242413.1:c.1685G>A, NM_001323267.2:c.1766G>A, NM_001323267.1:c.1766G>A, NM_001323265.1:c.1874G>A, NM_001282645.1:c.1499G>A, XP_005252553.1:p.Arg659Lys, NP_006248.1:p.Arg625Lys, XP_005252554.1:p.Arg659Lys, NP_001269573.1:p.Arg589Lys, NP_001310195.1:p.Arg500Lys, NP_001229342.1:p.Arg562Lys, NP_001310196.1:p.Arg589Lys, NP_001310194.1:p.Arg625Lys, NP_001269574.1:p.Arg500Lys

Select item 14795264706.

rs1479526470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:6507437 (GRCh38)
10:6549399 (GRCh37)
Canonical SPDI:: NC_000010.11:6507436:A:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6507437A>T, NC_000010.10:g.6549399A>T, XM_005252496.5:c.480T>A, XM_005252496.4:c.480T>A, XM_005252496.3:c.480T>A, XM_005252496.2:c.480T>A, XM_005252496.1:c.480T>A, NM_006257.5:c.378T>A, NM_006257.4:c.378T>A, NM_006257.3:c.378T>A, XM_005252497.5:c.480T>A, XM_005252497.4:c.480T>A, XM_005252497.3:c.480T>A, XM_005252497.2:c.480T>A, XM_005252497.1:c.480T>A, NM_001282644.2:c.270T>A, NM_001282644.1:c.270T>A, NM_001242413.2:c.378T>A, NM_001242413.1:c.378T>A, NM_001323267.2:c.270T>A, NM_001323267.1:c.270T>A, NM_001323265.1:c.378T>A, XP_005252553.1:p.Ser160Arg, NP_006248.1:p.Ser126Arg, XP_005252554.1:p.Ser160Arg, NP_001269573.1:p.Ser90Arg, NP_001229342.1:p.Ser126Arg, NP_001310196.1:p.Ser90Arg, NP_001310194.1:p.Ser126Arg

Select item 14772791707.

rs1477279170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:6483524 (GRCh38)
10:6525486 (GRCh37)
Canonical SPDI:: NC_000010.11:6483523:G:C
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.6483524G>C, NC_000010.10:g.6525486G>C, XM_005252496.5:c.1197C>G, XM_005252496.4:c.1197C>G, XM_005252496.3:c.1197C>G, XM_005252496.2:c.1197C>G, XM_005252496.1:c.1197C>G, NM_006257.5:c.1095C>G, NM_006257.4:c.1095C>G, NM_006257.3:c.1095C>G, XM_005252497.5:c.1197C>G, XM_005252497.4:c.1197C>G, XM_005252497.3:c.1197C>G, XM_005252497.2:c.1197C>G, XM_005252497.1:c.1197C>G, NM_001282644.2:c.987C>G, NM_001282644.1:c.987C>G, NM_001323266.2:c.720C>G, NM_001323266.1:c.720C>G, NM_001242413.2:c.1095C>G, NM_001242413.1:c.1095C>G, NM_001323267.2:c.987C>G, NM_001323267.1:c.987C>G, NM_001323265.1:c.1095C>G, NM_001282645.1:c.720C>G, XP_005252553.1:p.Asn399Lys, NP_006248.1:p.Asn365Lys, XP_005252554.1:p.Asn399Lys, NP_001269573.1:p.Asn329Lys, NP_001310195.1:p.Asn240Lys, NP_001229342.1:p.Asn365Lys, NP_001310196.1:p.Asn329Lys, NP_001310194.1:p.Asn365Lys, NP_001269574.1:p.Asn240Lys

Select item 14761487428.

rs1476148742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTG>- [Show Flanks]
Chromosome:: 10:6486112 (GRCh38)
10:6528074 (GRCh37)
Canonical SPDI:: NC_000010.11:6486109:TGTCTG:TG
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.6486112_6486115del, NC_000010.10:g.6528074_6528077del, XM_005252496.5:c.924_927del, XM_005252496.4:c.924_927del, XM_005252496.3:c.924_927del, XM_005252496.2:c.924_927del, XM_005252496.1:c.924_927del, NM_006257.5:c.822_825del, NM_006257.4:c.822_825del, NM_006257.3:c.822_825del, XM_005252497.5:c.924_927del, XM_005252497.4:c.924_927del, XM_005252497.3:c.924_927del, XM_005252497.2:c.924_927del, XM_005252497.1:c.924_927del, NM_001282644.2:c.714_717del, NM_001282644.1:c.714_717del, NM_001323266.2:c.447_450del, NM_001323266.1:c.447_450del, NM_001242413.2:c.822_825del, NM_001242413.1:c.822_825del, NM_001323267.2:c.714_717del, NM_001323267.1:c.714_717del, NM_001323265.1:c.822_825del, NM_001282645.1:c.447_450del, XP_005252553.1:p.Thr309fs, NP_006248.1:p.Thr275fs, XP_005252554.1:p.Thr309fs, NP_001269573.1:p.Thr239fs, NP_001310195.1:p.Thr150fs, NP_001229342.1:p.Thr275fs, NP_001310196.1:p.Thr239fs, NP_001310194.1:p.Thr275fs, NP_001269574.1:p.Thr150fs

Select item 14748924499.

rs1474892449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:6479040 (GRCh38)
10:6521002 (GRCh37)
Canonical SPDI:: NC_000010.11:6479039:G:C
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6479040G>C, NC_000010.10:g.6521002G>C, XM_005252496.5:c.1407C>G, XM_005252496.4:c.1407C>G, XM_005252496.3:c.1407C>G, XM_005252496.2:c.1407C>G, XM_005252496.1:c.1407C>G, NM_006257.5:c.1305C>G, NM_006257.4:c.1305C>G, NM_006257.3:c.1305C>G, XM_005252497.5:c.1407C>G, XM_005252497.4:c.1407C>G, XM_005252497.3:c.1407C>G, XM_005252497.2:c.1407C>G, XM_005252497.1:c.1407C>G, NM_001282644.2:c.1197C>G, NM_001282644.1:c.1197C>G, NM_001323266.2:c.930C>G, NM_001323266.1:c.930C>G, NM_001242413.2:c.1305C>G, NM_001242413.1:c.1305C>G, NM_001323267.2:c.1197C>G, NM_001323267.1:c.1197C>G, NM_001323265.1:c.1305C>G, NM_001282645.1:c.930C>G

Select item 146861498310.

rs1468614983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:6442073 (GRCh38)
10:6484035 (GRCh37)
Canonical SPDI:: NC_000010.11:6442072:C:A,NC_000010.11:6442072:C:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6442073C>A, NC_000010.11:g.6442073C>T, NC_000010.10:g.6484035C>A, NC_000010.10:g.6484035C>T, XM_005252496.5:c.1758G>T, XM_005252496.5:c.1758G>A, XM_005252496.4:c.1758G>T, XM_005252496.4:c.1758G>A, XM_005252496.3:c.1758G>T, XM_005252496.3:c.1758G>A, XM_005252496.2:c.1758G>T, XM_005252496.2:c.1758G>A, XM_005252496.1:c.1758G>T, XM_005252496.1:c.1758G>A, NM_006257.5:c.1656G>T, NM_006257.5:c.1656G>A, NM_006257.4:c.1656G>T, NM_006257.4:c.1656G>A, NM_006257.3:c.1656G>T, NM_006257.3:c.1656G>A, XM_005252497.5:c.1758G>T, XM_005252497.5:c.1758G>A, XM_005252497.4:c.1758G>T, XM_005252497.4:c.1758G>A, XM_005252497.3:c.1758G>T, XM_005252497.3:c.1758G>A, XM_005252497.2:c.1758G>T, XM_005252497.2:c.1758G>A, XM_005252497.1:c.1758G>T, XM_005252497.1:c.1758G>A, NM_001282644.2:c.1548G>T, NM_001282644.2:c.1548G>A, NM_001282644.1:c.1548G>T, NM_001282644.1:c.1548G>A, NM_001323266.2:c.1281G>T, NM_001323266.2:c.1281G>A, NM_001323266.1:c.1281G>T, NM_001323266.1:c.1281G>A, NM_001323267.2:c.1548G>T, NM_001323267.2:c.1548G>A, NM_001323267.1:c.1548G>T, NM_001323267.1:c.1548G>A, NM_001323265.1:c.1656G>T, NM_001323265.1:c.1656G>A, NM_001282645.1:c.1281G>T, NM_001282645.1:c.1281G>A

Select item 146251370611.

rs1462513706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6428354 (GRCh38)
10:6470316 (GRCh37)
Canonical SPDI:: NC_000010.11:6428353:T:C
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.6428354T>C, NC_000010.10:g.6470316T>C, XM_005252496.5:c.2076A>G, XM_005252496.4:c.2076A>G, XM_005252496.3:c.2076A>G, XM_005252496.2:c.2076A>G, XM_005252496.1:c.2076A>G, NM_006257.5:c.1974A>G, NM_006257.4:c.1974A>G, NM_006257.3:c.1974A>G, NM_001282644.2:c.1866A>G, NM_001282644.1:c.1866A>G, NM_001323266.2:c.1599A>G, NM_001323266.1:c.1599A>G, NM_001242413.2:c.1785A>G, NM_001242413.1:c.1785A>G, NM_001323265.1:c.1974A>G, NM_001282645.1:c.1599A>G

Select item 146245766712.

rs1462457667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:6491768 (GRCh38)
10:6533730 (GRCh37)
Canonical SPDI:: NC_000010.11:6491767:T:G
Gene:: PRKCQ (Varview), LOC107984202 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6491768T>G, NC_000010.10:g.6533730T>G, XM_005252496.5:c.807A>C, XM_005252496.4:c.807A>C, XM_005252496.3:c.807A>C, XM_005252496.2:c.807A>C, XM_005252496.1:c.807A>C, NM_006257.5:c.705A>C, NM_006257.4:c.705A>C, NM_006257.3:c.705A>C, XM_005252497.5:c.807A>C, XM_005252497.4:c.807A>C, XM_005252497.3:c.807A>C, XM_005252497.2:c.807A>C, XM_005252497.1:c.807A>C, NM_001282644.2:c.597A>C, NM_001282644.1:c.597A>C, NM_001323266.2:c.330A>C, NM_001323266.1:c.330A>C, NM_001242413.2:c.705A>C, NM_001242413.1:c.705A>C, NM_001323267.2:c.597A>C, NM_001323267.1:c.597A>C, NM_001323265.1:c.705A>C, NM_001282645.1:c.330A>C, XP_005252553.1:p.Lys269Asn, NP_006248.1:p.Lys235Asn, XP_005252554.1:p.Lys269Asn, NP_001269573.1:p.Lys199Asn, NP_001310195.1:p.Lys110Asn, NP_001229342.1:p.Lys235Asn, NP_001310196.1:p.Lys199Asn, NP_001310194.1:p.Lys235Asn, NP_001269574.1:p.Lys110Asn

Select item 146124843413.

rs1461248434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:6428229 (GRCh38)
10:6470191 (GRCh37)
Canonical SPDI:: NC_000010.11:6428228:C:A
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6428229C>A, NC_000010.10:g.6470191C>A, XM_005252496.5:c.2201G>T, XM_005252496.4:c.2201G>T, XM_005252496.3:c.2201G>T, XM_005252496.2:c.2201G>T, XM_005252496.1:c.2201G>T, NM_006257.5:c.2099G>T, NM_006257.4:c.2099G>T, NM_006257.3:c.2099G>T, NM_001282644.2:c.1991G>T, NM_001282644.1:c.1991G>T, NM_001323266.2:c.1724G>T, NM_001323266.1:c.1724G>T, NM_001242413.2:c.1910G>T, NM_001242413.1:c.1910G>T, NM_001323265.1:c.2099G>T, NM_001282645.1:c.1724G>T, XP_005252553.1:p.Gly734Val, NP_006248.1:p.Gly700Val, NP_001269573.1:p.Gly664Val, NP_001310195.1:p.Gly575Val, NP_001229342.1:p.Gly637Val, NP_001310194.1:p.Gly700Val, NP_001269574.1:p.Gly575Val

Select item 146093624214.

rs1460936242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:6428323 (GRCh38)
10:6470285 (GRCh37)
Canonical SPDI:: NC_000010.11:6428322:A:C
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000010.11:g.6428323A>C, NC_000010.10:g.6470285A>C, XM_005252496.5:c.2107T>G, XM_005252496.4:c.2107T>G, XM_005252496.3:c.2107T>G, XM_005252496.2:c.2107T>G, XM_005252496.1:c.2107T>G, NM_006257.5:c.2005T>G, NM_006257.4:c.2005T>G, NM_006257.3:c.2005T>G, NM_001282644.2:c.1897T>G, NM_001282644.1:c.1897T>G, NM_001323266.2:c.1630T>G, NM_001323266.1:c.1630T>G, NM_001242413.2:c.1816T>G, NM_001242413.1:c.1816T>G, NM_001323265.1:c.2005T>G, NM_001282645.1:c.1630T>G, XP_005252553.1:p.Leu703Val, NP_006248.1:p.Leu669Val, NP_001269573.1:p.Leu633Val, NP_001310195.1:p.Leu544Val, NP_001229342.1:p.Leu606Val, NP_001310194.1:p.Leu669Val, NP_001269574.1:p.Leu544Val

Select item 146084063815.

rs1460840638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:6511174 (GRCh38)
10:6553136 (GRCh37)
Canonical SPDI:: NC_000010.11:6511173:G:A
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6511174G>A, NC_000010.10:g.6553136G>A, XM_005252496.5:c.241C>T, XM_005252496.4:c.241C>T, XM_005252496.3:c.241C>T, XM_005252496.2:c.241C>T, XM_005252496.1:c.241C>T, NM_006257.5:c.139C>T, NM_006257.4:c.139C>T, NM_006257.3:c.139C>T, XM_005252497.5:c.241C>T, XM_005252497.4:c.241C>T, XM_005252497.3:c.241C>T, XM_005252497.2:c.241C>T, XM_005252497.1:c.241C>T, NM_001282644.2:c.31C>T, NM_001282644.1:c.31C>T, NM_001323266.2:c.-176C>T, NM_001323266.1:c.-176C>T, NM_001242413.2:c.139C>T, NM_001242413.1:c.139C>T, NM_001323267.2:c.31C>T, NM_001323267.1:c.31C>T, NM_001323265.1:c.139C>T, NM_001282645.1:c.-176C>T, XP_005252553.1:p.Gln81Ter, NP_006248.1:p.Gln47Ter, XP_005252554.1:p.Gln81Ter, NP_001269573.1:p.Gln11Ter, NP_001229342.1:p.Gln47Ter, NP_001310196.1:p.Gln11Ter, NP_001310194.1:p.Gln47Ter

Select item 145910014416.

rs1459100144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:6456694 (GRCh38)
10:6498656 (GRCh37)
Canonical SPDI:: NC_000010.11:6456693:G:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.6456694G>T, NC_000010.10:g.6498656G>T, XM_005252496.5:c.1729C>A, XM_005252496.4:c.1729C>A, XM_005252496.3:c.1729C>A, XM_005252496.2:c.1729C>A, XM_005252496.1:c.1729C>A, NM_006257.5:c.1627C>A, NM_006257.4:c.1627C>A, NM_006257.3:c.1627C>A, XM_005252497.5:c.1729C>A, XM_005252497.4:c.1729C>A, XM_005252497.3:c.1729C>A, XM_005252497.2:c.1729C>A, XM_005252497.1:c.1729C>A, NM_001282644.2:c.1519C>A, NM_001282644.1:c.1519C>A, NM_001323266.2:c.1252C>A, NM_001323266.1:c.1252C>A, NM_001242413.2:c.1627C>A, NM_001242413.1:c.1627C>A, NM_001323267.2:c.1519C>A, NM_001323267.1:c.1519C>A, NM_001323265.1:c.1627C>A, NM_001282645.1:c.1252C>A, XP_005252553.1:p.Pro577Thr, NP_006248.1:p.Pro543Thr, XP_005252554.1:p.Pro577Thr, NP_001269573.1:p.Pro507Thr, NP_001310195.1:p.Pro418Thr, NP_001229342.1:p.Pro543Thr, NP_001310196.1:p.Pro507Thr, NP_001310194.1:p.Pro543Thr, NP_001269574.1:p.Pro418Thr

Select item 145769190517.

rs1457691905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:6485223 (GRCh38)
10:6527185 (GRCh37)
Canonical SPDI:: NC_000010.11:6485222:A:G
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.6485223A>G, NC_000010.10:g.6527185A>G, XM_005252496.5:c.1049T>C, XM_005252496.4:c.1049T>C, XM_005252496.3:c.1049T>C, XM_005252496.2:c.1049T>C, XM_005252496.1:c.1049T>C, NM_006257.5:c.947T>C, NM_006257.4:c.947T>C, NM_006257.3:c.947T>C, XM_005252497.5:c.1049T>C, XM_005252497.4:c.1049T>C, XM_005252497.3:c.1049T>C, XM_005252497.2:c.1049T>C, XM_005252497.1:c.1049T>C, NM_001282644.2:c.839T>C, NM_001282644.1:c.839T>C, NM_001323266.2:c.572T>C, NM_001323266.1:c.572T>C, NM_001242413.2:c.947T>C, NM_001242413.1:c.947T>C, NM_001323267.2:c.839T>C, NM_001323267.1:c.839T>C, NM_001323265.1:c.947T>C, NM_001282645.1:c.572T>C, XP_005252553.1:p.Val350Ala, NP_006248.1:p.Val316Ala, XP_005252554.1:p.Val350Ala, NP_001269573.1:p.Val280Ala, NP_001310195.1:p.Val191Ala, NP_001229342.1:p.Val316Ala, NP_001310196.1:p.Val280Ala, NP_001310194.1:p.Val316Ala, NP_001269574.1:p.Val191Ala

Select item 145545401118.

rs1455454011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:6483591 (GRCh38)
10:6525553 (GRCh37)
Canonical SPDI:: NC_000010.11:6483590:C:A
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.6483591C>A, NC_000010.10:g.6525553C>A, XM_005252496.5:c.1130G>T, XM_005252496.4:c.1130G>T, XM_005252496.3:c.1130G>T, XM_005252496.2:c.1130G>T, XM_005252496.1:c.1130G>T, NM_006257.5:c.1028G>T, NM_006257.4:c.1028G>T, NM_006257.3:c.1028G>T, XM_005252497.5:c.1130G>T, XM_005252497.4:c.1130G>T, XM_005252497.3:c.1130G>T, XM_005252497.2:c.1130G>T, XM_005252497.1:c.1130G>T, NM_001282644.2:c.920G>T, NM_001282644.1:c.920G>T, NM_001323266.2:c.653G>T, NM_001323266.1:c.653G>T, NM_001242413.2:c.1028G>T, NM_001242413.1:c.1028G>T, NM_001323267.2:c.920G>T, NM_001323267.1:c.920G>T, NM_001323265.1:c.1028G>T, NM_001282645.1:c.653G>T, XP_005252553.1:p.Gly377Val, NP_006248.1:p.Gly343Val, XP_005252554.1:p.Gly377Val, NP_001269573.1:p.Gly307Val, NP_001310195.1:p.Gly218Val, NP_001229342.1:p.Gly343Val, NP_001310196.1:p.Gly307Val, NP_001310194.1:p.Gly343Val, NP_001269574.1:p.Gly218Val

Select item 145489957319.

rs1454899573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:6498431 (GRCh38)
10:6540393 (GRCh37)
Canonical SPDI:: NC_000010.11:6498430:C:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.6498431C>T, NC_000010.10:g.6540393C>T, XM_005252496.5:c.609G>A, XM_005252496.4:c.609G>A, XM_005252496.3:c.609G>A, XM_005252496.2:c.609G>A, XM_005252496.1:c.609G>A, NM_006257.5:c.507G>A, NM_006257.4:c.507G>A, NM_006257.3:c.507G>A, XM_005252497.5:c.609G>A, XM_005252497.4:c.609G>A, XM_005252497.3:c.609G>A, XM_005252497.2:c.609G>A, XM_005252497.1:c.609G>A, NM_001282644.2:c.399G>A, NM_001282644.1:c.399G>A, NM_001323266.2:c.132G>A, NM_001323266.1:c.132G>A, NM_001242413.2:c.507G>A, NM_001242413.1:c.507G>A, NM_001323267.2:c.399G>A, NM_001323267.1:c.399G>A, NM_001323265.1:c.507G>A, NM_001282645.1:c.132G>A

Select item 145333443020.

rs1453334430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:6430912 (GRCh38)
10:6472874 (GRCh37)
Canonical SPDI:: NC_000010.11:6430911:C:T
Gene:: PRKCQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.6430912C>T, NC_000010.10:g.6472874C>T, XM_005252496.5:c.1965G>A, XM_005252496.4:c.1965G>A, XM_005252496.3:c.1965G>A, XM_005252496.2:c.1965G>A, XM_005252496.1:c.1965G>A, NM_006257.5:c.1863G>A, NM_006257.4:c.1863G>A, NM_006257.3:c.1863G>A, XM_005252497.5:c.1965G>A, XM_005252497.4:c.1965G>A, XM_005252497.3:c.1965G>A, XM_005252497.2:c.1965G>A, XM_005252497.1:c.1965G>A, NM_001282644.2:c.1755G>A, NM_001282644.1:c.1755G>A, NM_001323266.2:c.1488G>A, NM_001323266.1:c.1488G>A, NM_001242413.2:c.1674G>A, NM_001242413.1:c.1674G>A, NM_001323267.2:c.1755G>A, NM_001323267.1:c.1755G>A, NM_001323265.1:c.1863G>A, NM_001282645.1:c.1488G>A

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Items: 1 to 20 of 579

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