SNP Links for Protein (Select 284055225) - SNP

Links from Protein

Items: 1 to 20 of 603

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Select item 14895437611.

rs1489543761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49516580 (GRCh38)
10:50724626 (GRCh37)
Canonical SPDI:: NC_000010.11:49516579:C:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49516580C>T, NC_000010.10:g.50724626C>T, NG_009442.1:g.27522G>A, NM_001277058.2:c.1939G>A, NM_001277058.1:c.1939G>A, NM_001277059.2:c.1939G>A, NM_001277059.1:c.1939G>A, NG_033155.1:g.12702G>A, NM_170753.3:c.535G>A, NP_001263987.1:p.Glu647Lys, NP_001263988.1:p.Glu647Lys, NP_736609.2:p.Glu179Lys

Select item 14880117772.

rs1488011777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49516254 (GRCh38)
10:50724300 (GRCh37)
Canonical SPDI:: NC_000010.11:49516253:C:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000010.11:g.49516254C>T, NC_000010.10:g.50724300C>T, NG_009442.1:g.27848G>A, NM_001277058.2:c.2265G>A, NM_001277058.1:c.2265G>A, NM_001277059.2:c.2265G>A, NM_001277059.1:c.2265G>A, NG_033155.1:g.13028G>A, NM_170753.3:c.861G>A

Select item 14876338123.

rs1487633812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49516997 (GRCh38)
10:50725043 (GRCh37)
Canonical SPDI:: NC_000010.11:49516996:C:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000010.11:g.49516997C>T, NC_000010.10:g.50725043C>T, NG_009442.1:g.27105G>A, NM_001277058.2:c.1522G>A, NM_001277058.1:c.1522G>A, NM_001277059.2:c.1522G>A, NM_001277059.1:c.1522G>A, NG_033155.1:g.12285G>A, NM_170753.3:c.118G>A, NP_001263987.1:p.Glu508Lys, NP_001263988.1:p.Glu508Lys, NP_736609.2:p.Glu40Lys

Select item 14866048834.

rs1486604883 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:49516084 (GRCh38)
10:50724130 (GRCh37)
Canonical SPDI:: NC_000010.11:49516083:GGG:GG
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49516086del, NC_000010.10:g.50724132del, NG_009442.1:g.28018del, NM_001277058.2:c.2435del, NM_001277058.1:c.2435del, NM_001277059.2:c.2435del, NM_001277059.1:c.2435del, NG_033155.1:g.13198del, NM_170753.3:c.1031del, NP_001263987.1:p.Pro812fs, NP_001263988.1:p.Pro812fs, NP_736609.2:p.Pro344fs

Select item 14837911705.

rs1483791170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49516648 (GRCh38)
10:50724694 (GRCh37)
Canonical SPDI:: NC_000010.11:49516647:T:C
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49516648T>C, NC_000010.10:g.50724694T>C, NG_009442.1:g.27454A>G, NM_001277058.2:c.1871A>G, NM_001277058.1:c.1871A>G, NM_001277059.2:c.1871A>G, NM_001277059.1:c.1871A>G, NG_033155.1:g.12634A>G, NM_170753.3:c.467A>G, NP_001263987.1:p.Glu624Gly, NP_001263988.1:p.Glu624Gly, NP_736609.2:p.Glu156Gly

Select item 14821431306.

rs1482143130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:49515722 (GRCh38)
10:50723768 (GRCh37)
Canonical SPDI:: NC_000010.11:49515721:T:A
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49515722T>A, NC_000010.10:g.50723768T>A, NG_009442.1:g.28380A>T, NM_001277058.2:c.2797A>T, NM_001277058.1:c.2797A>T, NM_001277059.2:c.2797A>T, NM_001277059.1:c.2797A>T, NG_033155.1:g.13560A>T, NM_170753.3:c.1393A>T, NP_001263987.1:p.Arg933Ter, NP_001263988.1:p.Arg933Ter, NP_736609.2:p.Arg465Ter

Select item 14785411377.

rs1478541137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:49516750 (GRCh38)
10:50724796 (GRCh37)
Canonical SPDI:: NC_000010.11:49516749:T:G
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49516750T>G, NC_000010.10:g.50724796T>G, NG_009442.1:g.27352A>C, NM_001277058.2:c.1769A>C, NM_001277058.1:c.1769A>C, NM_001277059.2:c.1769A>C, NM_001277059.1:c.1769A>C, NG_033155.1:g.12532A>C, NM_170753.3:c.365A>C, NP_001263987.1:p.Gln590Pro, NP_001263988.1:p.Gln590Pro, NP_736609.2:p.Gln122Pro

Select item 14765985638.

rs1476598563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49515427 (GRCh38)
10:50723473 (GRCh37)
Canonical SPDI:: NC_000010.11:49515426:C:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.49515427C>T, NC_000010.10:g.50723473C>T, NG_009442.1:g.28675G>A, NM_001277058.2:c.3092G>A, NM_001277058.1:c.3092G>A, NM_001277059.2:c.3092G>A, NM_001277059.1:c.3092G>A, NG_033155.1:g.13855G>A, NM_170753.3:c.1688G>A, NP_001263987.1:p.Arg1031Gln, NP_001263988.1:p.Arg1031Gln, NP_736609.2:p.Arg563Gln

Select item 14765782449.

rs1476578244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:49516102 (GRCh38)
10:50724148 (GRCh37)
Canonical SPDI:: NC_000010.11:49516101:G:C
Gene:: ERCC6 (Varview), PGBD3 (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 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49516102G>C, NC_000010.10:g.50724148G>C, NG_009442.1:g.28000C>G, NM_001277058.2:c.2417C>G, NM_001277058.1:c.2417C>G, NM_001277059.2:c.2417C>G, NM_001277059.1:c.2417C>G, NG_033155.1:g.13180C>G, NM_170753.3:c.1013C>G, NP_001263987.1:p.Ala806Gly, NP_001263988.1:p.Ala806Gly, NP_736609.2:p.Ala338Gly

Select item 147653052010.

rs1476530520 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGG>- [Show Flanks]
Chromosome:: 10:49516815 (GRCh38)
10:50724861 (GRCh37)
Canonical SPDI:: NC_000010.11:49516811:TGGTGG:TGG
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TGGTGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49516812TGG[1], NC_000010.10:g.50724858TGG[1], NG_009442.1:g.27285CCA[1], NM_001277058.2:c.1702CCA[1], NM_001277058.1:c.1702CCA[1], NM_001277059.2:c.1702CCA[1], NM_001277059.1:c.1702CCA[1], NG_033155.1:g.12465CCA[1], NM_170753.3:c.298CCA[1], NP_001263987.1:p.Pro569del, NP_001263988.1:p.Pro569del, NP_736609.2:p.Pro101del

Select item 147327579311.

rs1473275793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49516447 (GRCh38)
10:50724493 (GRCh37)
Canonical SPDI:: NC_000010.11:49516446:T:C
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.49516447T>C, NC_000010.10:g.50724493T>C, NG_009442.1:g.27655A>G, NM_001277058.2:c.2072A>G, NM_001277058.1:c.2072A>G, NM_001277059.2:c.2072A>G, NM_001277059.1:c.2072A>G, NG_033155.1:g.12835A>G, NM_170753.3:c.668A>G, NP_001263987.1:p.Glu691Gly, NP_001263988.1:p.Glu691Gly, NP_736609.2:p.Glu223Gly

Select item 147261031512.

rs1472610315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49516334 (GRCh38)
10:50724380 (GRCh37)
Canonical SPDI:: NC_000010.11:49516333:C:T
Gene:: ERCC6 (Varview), PGBD3 (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.49516334C>T, NC_000010.10:g.50724380C>T, NG_009442.1:g.27768G>A, NM_001277058.2:c.2185G>A, NM_001277058.1:c.2185G>A, NM_001277059.2:c.2185G>A, NM_001277059.1:c.2185G>A, NG_033155.1:g.12948G>A, NM_170753.3:c.781G>A, NP_001263987.1:p.Val729Ile, NP_001263988.1:p.Val729Ile, NP_736609.2:p.Val261Ile

Select item 147043092413.

rs1470430924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49515554 (GRCh38)
10:50723600 (GRCh37)
Canonical SPDI:: NC_000010.11:49515553:A:G
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49515554A>G, NC_000010.10:g.50723600A>G, NG_009442.1:g.28548T>C, NM_001277058.2:c.2965T>C, NM_001277058.1:c.2965T>C, NM_001277059.2:c.2965T>C, NM_001277059.1:c.2965T>C, NG_033155.1:g.13728T>C, NM_170753.3:c.1561T>C, NP_001263987.1:p.Cys989Arg, NP_001263988.1:p.Cys989Arg, NP_736609.2:p.Cys521Arg

Select item 146917747214.

rs1469177472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49515382 (GRCh38)
10:50723428 (GRCh37)
Canonical SPDI:: NC_000010.11:49515381:C:T
Gene:: ERCC6 (Varview), PGBD3 (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.49515382C>T, NC_000010.10:g.50723428C>T, NG_009442.1:g.28720G>A, NM_001277058.2:c.3137G>A, NM_001277058.1:c.3137G>A, NM_001277059.2:c.3137G>A, NM_001277059.1:c.3137G>A, NG_033155.1:g.13900G>A, NM_170753.3:c.1733G>A, NP_001263987.1:p.Cys1046Tyr, NP_001263988.1:p.Cys1046Tyr, NP_736609.2:p.Cys578Tyr

Select item 146711166415.

rs1467111664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49516699 (GRCh38)
10:50724745 (GRCh37)
Canonical SPDI:: NC_000010.11:49516698:A:G
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49516699A>G, NC_000010.10:g.50724745A>G, NG_009442.1:g.27403T>C, NM_001277058.2:c.1820T>C, NM_001277058.1:c.1820T>C, NM_001277059.2:c.1820T>C, NM_001277059.1:c.1820T>C, NG_033155.1:g.12583T>C, NM_170753.3:c.416T>C, NP_001263987.1:p.Met607Thr, NP_001263988.1:p.Met607Thr, NP_736609.2:p.Met139Thr

Select item 146660300916.

rs1466603009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49517111 (GRCh38)
10:50725157 (GRCh37)
Canonical SPDI:: NC_000010.11:49517110:G:A
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49517111G>A, NC_000010.10:g.50725157G>A, NG_009442.1:g.26991C>T, NM_001277058.2:c.1408C>T, NM_001277058.1:c.1408C>T, NM_001277059.2:c.1408C>T, NM_001277059.1:c.1408C>T, NG_033155.1:g.12171C>T, NM_170753.3:c.4C>T, NP_001263987.1:p.Pro470Ser, NP_001263988.1:p.Pro470Ser, NP_736609.2:p.Pro2Ser

Select item 146659209817.

rs1466592098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49516343 (GRCh38)
10:50724389 (GRCh37)
Canonical SPDI:: NC_000010.11:49516342:T:C
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49516343T>C, NC_000010.10:g.50724389T>C, NG_009442.1:g.27759A>G, NM_001277058.2:c.2176A>G, NM_001277058.1:c.2176A>G, NM_001277059.2:c.2176A>G, NM_001277059.1:c.2176A>G, NG_033155.1:g.12939A>G, NM_170753.3:c.772A>G, NP_001263987.1:p.Met726Val, NP_001263988.1:p.Met726Val, NP_736609.2:p.Met258Val

Select item 146394578718.

rs1463945787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:49515996 (GRCh38)
10:50724042 (GRCh37)
Canonical SPDI:: NC_000010.11:49515995:A:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49515996A>T, NC_000010.10:g.50724042A>T, NG_009442.1:g.28106T>A, NM_001277058.2:c.2523T>A, NM_001277058.1:c.2523T>A, NM_001277059.2:c.2523T>A, NM_001277059.1:c.2523T>A, NG_033155.1:g.13286T>A, NM_170753.3:c.1119T>A

Select item 146310378019.

rs1463103780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49515927 (GRCh38)
10:50723973 (GRCh37)
Canonical SPDI:: NC_000010.11:49515926:T:C
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49515927T>C, NC_000010.10:g.50723973T>C, NG_009442.1:g.28175A>G, NM_001277058.2:c.2592A>G, NM_001277058.1:c.2592A>G, NM_001277059.2:c.2592A>G, NM_001277059.1:c.2592A>G, NG_033155.1:g.13355A>G, NM_170753.3:c.1188A>G

Select item 146291354720.

rs1462913547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49516478 (GRCh38)
10:50724524 (GRCh37)
Canonical SPDI:: NC_000010.11:49516477:C:T
Gene:: ERCC6 (Varview), PGBD3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.49516478C>T, NC_000010.10:g.50724524C>T, NG_009442.1:g.27624G>A, NM_001277058.2:c.2041G>A, NM_001277058.1:c.2041G>A, NM_001277059.2:c.2041G>A, NM_001277059.1:c.2041G>A, NG_033155.1:g.12804G>A, NM_170753.3:c.637G>A, NP_001263987.1:p.Val681Ile, NP_001263988.1:p.Val681Ile, NP_736609.2:p.Val213Ile

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