SNP Links for Protein (Select 768038890) - SNP

Select item 14902202941.

rs1490220294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:118676628 (GRCh38)
X:117810591 (GRCh37)
Canonical SPDI:: NC_000023.11:118676627:A:G
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118676628A>G, NC_000023.10:g.117810591A>G, XM_005262369.6:c.5297A>G, XM_005262369.5:c.5297A>G, XM_005262369.4:c.5297A>G, XM_005262369.3:c.5297A>G, XM_005262369.2:c.5297A>G, XM_005262369.1:c.5297A>G, XM_005262368.5:c.5390A>G, XM_005262368.4:c.5390A>G, XM_005262368.3:c.5390A>G, XM_005262368.2:c.5390A>G, XM_005262368.1:c.5390A>G, XM_011531276.4:c.5318A>G, XM_011531276.3:c.5318A>G, XM_011531276.2:c.5318A>G, XM_011531276.1:c.5318A>G, NM_144658.4:c.5351A>G, NM_144658.3:c.5351A>G, XM_011531278.3:c.3506A>G, XM_011531278.2:c.3506A>G, XM_011531278.1:c.3506A>G, XM_047441841.1:c.5258A>G, XP_005262426.1:p.Tyr1766Cys, XP_005262425.1:p.Tyr1797Cys, XP_011529578.1:p.Tyr1773Cys, NP_653259.3:p.Tyr1784Cys, XP_011529580.1:p.Tyr1169Cys, XP_047297797.1:p.Tyr1753Cys

Select item 14892880072.

rs1489288007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:118624559 (GRCh38)
X:117758522 (GRCh37)
Canonical SPDI:: NC_000023.11:118624558:A:C,NC_000023.11:118624558:A:G
Gene:: DOCK11 (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)
G=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.118624559A>C, NC_000023.11:g.118624559A>G, NC_000023.10:g.117758522A>C, NC_000023.10:g.117758522A>G, XM_005262369.6:c.3438A>C, XM_005262369.6:c.3438A>G, XM_005262369.5:c.3438A>C, XM_005262369.5:c.3438A>G, XM_005262369.4:c.3438A>C, XM_005262369.4:c.3438A>G, XM_005262369.3:c.3438A>C, XM_005262369.3:c.3438A>G, XM_005262369.2:c.3438A>C, XM_005262369.2:c.3438A>G, XM_005262369.1:c.3438A>C, XM_005262369.1:c.3438A>G, XM_005262368.5:c.3531A>C, XM_005262368.5:c.3531A>G, XM_005262368.4:c.3531A>C, XM_005262368.4:c.3531A>G, XM_005262368.3:c.3531A>C, XM_005262368.3:c.3531A>G, XM_005262368.2:c.3531A>C, XM_005262368.2:c.3531A>G, XM_005262368.1:c.3531A>C, XM_005262368.1:c.3531A>G, XM_011531276.4:c.3459A>C, XM_011531276.4:c.3459A>G, XM_011531276.3:c.3459A>C, XM_011531276.3:c.3459A>G, XM_011531276.2:c.3459A>C, XM_011531276.2:c.3459A>G, XM_011531276.1:c.3459A>C, XM_011531276.1:c.3459A>G, NM_144658.4:c.3492A>C, NM_144658.4:c.3492A>G, NM_144658.3:c.3492A>C, NM_144658.3:c.3492A>G, XM_011531278.3:c.1647A>C, XM_011531278.3:c.1647A>G, XM_011531278.2:c.1647A>C, XM_011531278.2:c.1647A>G, XM_011531278.1:c.1647A>C, XM_011531278.1:c.1647A>G, XM_047441841.1:c.3399A>C, XM_047441841.1:c.3399A>G

Select item 14883444653.

rs1488344465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:118676017 (GRCh38)
X:117809980 (GRCh37)
Canonical SPDI:: NC_000023.11:118676016:G:T
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.118676017G>T, NC_000023.10:g.117809980G>T, XM_005262369.6:c.5227G>T, XM_005262369.5:c.5227G>T, XM_005262369.4:c.5227G>T, XM_005262369.3:c.5227G>T, XM_005262369.2:c.5227G>T, XM_005262369.1:c.5227G>T, XM_005262368.5:c.5320G>T, XM_005262368.4:c.5320G>T, XM_005262368.3:c.5320G>T, XM_005262368.2:c.5320G>T, XM_005262368.1:c.5320G>T, XM_011531276.4:c.5248G>T, XM_011531276.3:c.5248G>T, XM_011531276.2:c.5248G>T, XM_011531276.1:c.5248G>T, NM_144658.4:c.5281G>T, NM_144658.3:c.5281G>T, XM_011531278.3:c.3436G>T, XM_011531278.2:c.3436G>T, XM_011531278.1:c.3436G>T, XM_047441841.1:c.5188G>T, XP_005262426.1:p.Gly1743Cys, XP_005262425.1:p.Gly1774Cys, XP_011529578.1:p.Gly1750Cys, NP_653259.3:p.Gly1761Cys, XP_011529580.1:p.Gly1146Cys, XP_047297797.1:p.Gly1730Cys

Select item 14837355734.

rs1483735573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:118590252 (GRCh38)
X:117724215 (GRCh37)
Canonical SPDI:: NC_000023.11:118590251:G:A
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118590252G>A, NC_000023.10:g.117724215G>A, XM_005262369.6:c.1996G>A, XM_005262369.5:c.1996G>A, XM_005262369.4:c.1996G>A, XM_005262369.3:c.1996G>A, XM_005262369.2:c.1996G>A, XM_005262369.1:c.1996G>A, XM_005262368.5:c.2089G>A, XM_005262368.4:c.2089G>A, XM_005262368.3:c.2089G>A, XM_005262368.2:c.2089G>A, XM_005262368.1:c.2089G>A, XM_011531276.4:c.2017G>A, XM_011531276.3:c.2017G>A, XM_011531276.2:c.2017G>A, XM_011531276.1:c.2017G>A, NM_144658.4:c.2089G>A, NM_144658.3:c.2089G>A, XM_011531278.3:c.205G>A, XM_011531278.2:c.205G>A, XM_011531278.1:c.205G>A, XM_047441841.1:c.1996G>A, XP_005262426.1:p.Ala666Thr, XP_005262425.1:p.Ala697Thr, XP_011529578.1:p.Ala673Thr, NP_653259.3:p.Ala697Thr, XP_011529580.1:p.Ala69Thr, XP_047297797.1:p.Ala666Thr

Select item 14837096245.

rs1483709624 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:118639508 (GRCh38)
X:117773471 (GRCh37)
Canonical SPDI:: NC_000023.11:118639507:A:
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118639508del, NC_000023.10:g.117773471del, XM_005262369.6:c.4021del, XM_005262369.5:c.4021del, XM_005262369.4:c.4021del, XM_005262369.3:c.4021del, XM_005262369.2:c.4021del, XM_005262369.1:c.4021del, XM_005262368.5:c.4114del, XM_005262368.4:c.4114del, XM_005262368.3:c.4114del, XM_005262368.2:c.4114del, XM_005262368.1:c.4114del, XM_011531276.4:c.4042del, XM_011531276.3:c.4042del, XM_011531276.2:c.4042del, XM_011531276.1:c.4042del, NM_144658.4:c.4075del, NM_144658.3:c.4075del, XM_011531278.3:c.2230del, XM_011531278.2:c.2230del, XM_011531278.1:c.2230del, XM_047441841.1:c.3982del, XP_005262426.1:p.Arg1341fs, XP_005262425.1:p.Arg1372fs, XP_011529578.1:p.Arg1348fs, NP_653259.3:p.Arg1359fs, XP_011529580.1:p.Arg744fs, XP_047297797.1:p.Arg1328fs

Select item 14821532716.

rs1482153271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118630412 (GRCh38)
X:117764375 (GRCh37)
Canonical SPDI:: NC_000023.11:118630411:C:T
Gene:: DOCK11 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.118630412C>T, NC_000023.10:g.117764375C>T, XM_005262369.6:c.3754C>T, XM_005262369.5:c.3754C>T, XM_005262369.4:c.3754C>T, XM_005262369.3:c.3754C>T, XM_005262369.2:c.3754C>T, XM_005262369.1:c.3754C>T, XM_005262368.5:c.3847C>T, XM_005262368.4:c.3847C>T, XM_005262368.3:c.3847C>T, XM_005262368.2:c.3847C>T, XM_005262368.1:c.3847C>T, XM_011531276.4:c.3775C>T, XM_011531276.3:c.3775C>T, XM_011531276.2:c.3775C>T, XM_011531276.1:c.3775C>T, NM_144658.4:c.3808C>T, NM_144658.3:c.3808C>T, XM_011531278.3:c.1963C>T, XM_011531278.2:c.1963C>T, XM_011531278.1:c.1963C>T, XM_047441841.1:c.3715C>T, XP_005262426.1:p.Gln1252Ter, XP_005262425.1:p.Gln1283Ter, XP_011529578.1:p.Gln1259Ter, NP_653259.3:p.Gln1270Ter, XP_011529580.1:p.Gln655Ter, XP_047297797.1:p.Gln1239Ter

Select item 14813554527.

rs1481355452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:118599193 (GRCh38)
X:117733156 (GRCh37)
Canonical SPDI:: NC_000023.11:118599192:A:G
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118599193A>G, NC_000023.10:g.117733156A>G, XM_005262369.6:c.2434A>G, XM_005262369.5:c.2434A>G, XM_005262369.4:c.2434A>G, XM_005262369.3:c.2434A>G, XM_005262369.2:c.2434A>G, XM_005262369.1:c.2434A>G, XM_005262368.5:c.2527A>G, XM_005262368.4:c.2527A>G, XM_005262368.3:c.2527A>G, XM_005262368.2:c.2527A>G, XM_005262368.1:c.2527A>G, XM_011531276.4:c.2455A>G, XM_011531276.3:c.2455A>G, XM_011531276.2:c.2455A>G, XM_011531276.1:c.2455A>G, NM_144658.4:c.2527A>G, NM_144658.3:c.2527A>G, XM_011531278.3:c.643A>G, XM_011531278.2:c.643A>G, XM_011531278.1:c.643A>G, XM_047441841.1:c.2434A>G, XP_005262426.1:p.Lys812Glu, XP_005262425.1:p.Lys843Glu, XP_011529578.1:p.Lys819Glu, NP_653259.3:p.Lys843Glu, XP_011529580.1:p.Lys215Glu, XP_047297797.1:p.Lys812Glu

Select item 14804392368.

rs1480439236 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: X:118627518 (GRCh38)
X:117761481 (GRCh37)
Canonical SPDI:: NC_000023.11:118627517:GT:
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000023.11:g.118627518_118627519del, NC_000023.10:g.117761481_117761482del, XM_005262369.6:c.3549_3550del, XM_005262369.5:c.3549_3550del, XM_005262369.4:c.3549_3550del, XM_005262369.3:c.3549_3550del, XM_005262369.2:c.3549_3550del, XM_005262369.1:c.3549_3550del, XM_005262368.5:c.3642_3643del, XM_005262368.4:c.3642_3643del, XM_005262368.3:c.3642_3643del, XM_005262368.2:c.3642_3643del, XM_005262368.1:c.3642_3643del, XM_011531276.4:c.3570_3571del, XM_011531276.3:c.3570_3571del, XM_011531276.2:c.3570_3571del, XM_011531276.1:c.3570_3571del, NM_144658.4:c.3603_3604del, NM_144658.3:c.3603_3604del, XM_011531278.3:c.1758_1759del, XM_011531278.2:c.1758_1759del, XM_011531278.1:c.1758_1759del, XM_047441841.1:c.3510_3511del, XP_005262426.1:p.Glu1183fs, XP_005262425.1:p.Glu1214fs, XP_011529578.1:p.Glu1190fs, NP_653259.3:p.Glu1201fs, XP_011529580.1:p.Glu586fs, XP_047297797.1:p.Glu1170fs

Select item 14779246929.

rs1477924692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:118609279 (GRCh38)
X:117743242 (GRCh37)
Canonical SPDI:: NC_000023.11:118609278:A:T
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0007/3 (ALFA)
HGVS:: NC_000023.11:g.118609279A>T, NC_000023.10:g.117743242A>T, XM_005262369.6:c.2786A>T, XM_005262369.5:c.2786A>T, XM_005262369.4:c.2786A>T, XM_005262369.3:c.2786A>T, XM_005262369.2:c.2786A>T, XM_005262369.1:c.2786A>T, XM_005262368.5:c.2879A>T, XM_005262368.4:c.2879A>T, XM_005262368.3:c.2879A>T, XM_005262368.2:c.2879A>T, XM_005262368.1:c.2879A>T, XM_011531276.4:c.2807A>T, XM_011531276.3:c.2807A>T, XM_011531276.2:c.2807A>T, XM_011531276.1:c.2807A>T, NM_144658.4:c.2879A>T, NM_144658.3:c.2879A>T, XM_011531278.3:c.995A>T, XM_011531278.2:c.995A>T, XM_011531278.1:c.995A>T, XM_047441841.1:c.2786A>T, XP_005262426.1:p.Tyr929Phe, XP_005262425.1:p.Tyr960Phe, XP_011529578.1:p.Tyr936Phe, NP_653259.3:p.Tyr960Phe, XP_011529580.1:p.Tyr332Phe, XP_047297797.1:p.Tyr929Phe

Select item 147776747410.

rs1477767474 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:118649074 (GRCh38)
X:117783037 (GRCh37)
Canonical SPDI:: NC_000023.11:118649073:A:
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118649074del, NC_000023.10:g.117783037del, XM_005262369.6:c.4474del, XM_005262369.5:c.4474del, XM_005262369.4:c.4474del, XM_005262369.3:c.4474del, XM_005262369.2:c.4474del, XM_005262369.1:c.4474del, XM_005262368.5:c.4567del, XM_005262368.4:c.4567del, XM_005262368.3:c.4567del, XM_005262368.2:c.4567del, XM_005262368.1:c.4567del, XM_011531276.4:c.4495del, XM_011531276.3:c.4495del, XM_011531276.2:c.4495del, XM_011531276.1:c.4495del, NM_144658.4:c.4528del, NM_144658.3:c.4528del, XM_011531278.3:c.2683del, XM_011531278.2:c.2683del, XM_011531278.1:c.2683del, XM_047441841.1:c.4435del, XP_005262426.1:p.Arg1492fs, XP_005262425.1:p.Arg1523fs, XP_011529578.1:p.Arg1499fs, NP_653259.3:p.Arg1510fs, XP_011529580.1:p.Arg895fs, XP_047297797.1:p.Arg1479fs

Select item 147640825811.

rs1476408258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118608239 (GRCh38)
X:117742202 (GRCh37)
Canonical SPDI:: NC_000023.11:118608238:C:T
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118608239C>T, NC_000023.10:g.117742202C>T, XM_005262369.6:c.2667C>T, XM_005262369.5:c.2667C>T, XM_005262369.4:c.2667C>T, XM_005262369.3:c.2667C>T, XM_005262369.2:c.2667C>T, XM_005262369.1:c.2667C>T, XM_005262368.5:c.2760C>T, XM_005262368.4:c.2760C>T, XM_005262368.3:c.2760C>T, XM_005262368.2:c.2760C>T, XM_005262368.1:c.2760C>T, XM_011531276.4:c.2688C>T, XM_011531276.3:c.2688C>T, XM_011531276.2:c.2688C>T, XM_011531276.1:c.2688C>T, NM_144658.4:c.2760C>T, NM_144658.3:c.2760C>T, XM_011531278.3:c.876C>T, XM_011531278.2:c.876C>T, XM_011531278.1:c.876C>T, XM_047441841.1:c.2667C>T

Select item 147492663812.

rs1474926638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:118638105 (GRCh38)
X:117772068 (GRCh37)
Canonical SPDI:: NC_000023.11:118638104:A:G
Gene:: DOCK11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118638105A>G, NC_000023.10:g.117772068A>G, XM_005262369.6:c.3925A>G, XM_005262369.5:c.3925A>G, XM_005262369.4:c.3925A>G, XM_005262369.3:c.3925A>G, XM_005262369.2:c.3925A>G, XM_005262369.1:c.3925A>G, XM_005262368.5:c.4018A>G, XM_005262368.4:c.4018A>G, XM_005262368.3:c.4018A>G, XM_005262368.2:c.4018A>G, XM_005262368.1:c.4018A>G, XM_011531276.4:c.3946A>G, XM_011531276.3:c.3946A>G, XM_011531276.2:c.3946A>G, XM_011531276.1:c.3946A>G, NM_144658.4:c.3979A>G, NM_144658.3:c.3979A>G, XM_011531278.3:c.2134A>G, XM_011531278.2:c.2134A>G, XM_011531278.1:c.2134A>G, XM_047441841.1:c.3886A>G, XP_005262426.1:p.Met1309Val, XP_005262425.1:p.Met1340Val, XP_011529578.1:p.Met1316Val, NP_653259.3:p.Met1327Val, XP_011529580.1:p.Met712Val, XP_047297797.1:p.Met1296Val

Select item 147469413913.

rs1474694139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:118685734 (GRCh38)
X:117819697 (GRCh37)
Canonical SPDI:: NC_000023.11:118685733:T:A
Gene:: DOCK11 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118685734T>A, NC_000023.10:g.117819697T>A, XM_005262369.6:c.6095T>A, XM_005262369.5:c.6095T>A, XM_005262369.4:c.6095T>A, XM_005262369.3:c.6095T>A, XM_005262369.2:c.6095T>A, XM_005262369.1:c.6095T>A, XM_005262368.5:c.6188T>A, XM_005262368.4:c.6188T>A, XM_005262368.3:c.6188T>A, XM_005262368.2:c.6188T>A, XM_005262368.1:c.6188T>A, XM_011531276.4:c.6116T>A, XM_011531276.3:c.6116T>A, XM_011531276.2:c.6116T>A, XM_011531276.1:c.6116T>A, NM_144658.4:c.6149T>A, NM_144658.3:c.6149T>A, XM_011531278.3:c.4304T>A, XM_011531278.2:c.4304T>A, XM_011531278.1:c.4304T>A, XM_047441841.1:c.6056T>A, XP_005262426.1:p.Leu2032Ter, XP_005262425.1:p.Leu2063Ter, XP_011529578.1:p.Leu2039Ter, NP_653259.3:p.Leu2050Ter, XP_011529580.1:p.Leu1435Ter, XP_047297797.1:p.Leu2019Ter

Select item 147448954114.

rs1474489541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:118636403 (GRCh38)
X:117770366 (GRCh37)
Canonical SPDI:: NC_000023.11:118636402:T:C
Gene:: DOCK11 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.118636403T>C, NC_000023.10:g.117770366T>C, XM_005262369.6:c.3890T>C, XM_005262369.5:c.3890T>C, XM_005262369.4:c.3890T>C, XM_005262369.3:c.3890T>C, XM_005262369.2:c.3890T>C, XM_005262369.1:c.3890T>C, XM_005262368.5:c.3983T>C, XM_005262368.4:c.3983T>C, XM_005262368.3:c.3983T>C, XM_005262368.2:c.3983T>C, XM_005262368.1:c.3983T>C, XM_011531276.4:c.3911T>C, XM_011531276.3:c.3911T>C, XM_011531276.2:c.3911T>C, XM_011531276.1:c.3911T>C, NM_144658.4:c.3944T>C, NM_144658.3:c.3944T>C, XM_011531278.3:c.2099T>C, XM_011531278.2:c.2099T>C, XM_011531278.1:c.2099T>C, XM_047441841.1:c.3851T>C, XP_005262426.1:p.Ile1297Thr, XP_005262425.1:p.Ile1328Thr, XP_011529578.1:p.Ile1304Thr, NP_653259.3:p.Ile1315Thr, XP_011529580.1:p.Ile700Thr, XP_047297797.1:p.Ile1284Thr

Select item 147417189315.

rs1474171893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:118651964 (GRCh38)
X:117785927 (GRCh37)
Canonical SPDI:: NC_000023.11:118651963:A:G
Gene:: DOCK11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.118651964A>G, NC_000023.10:g.117785927A>G, XM_005262369.6:c.4528A>G, XM_005262369.5:c.4528A>G, XM_005262369.4:c.4528A>G, XM_005262369.3:c.4528A>G, XM_005262369.2:c.4528A>G, XM_005262369.1:c.4528A>G, XM_005262368.5:c.4621A>G, XM_005262368.4:c.4621A>G, XM_005262368.3:c.4621A>G, XM_005262368.2:c.4621A>G, XM_005262368.1:c.4621A>G, XM_011531276.4:c.4549A>G, XM_011531276.3:c.4549A>G, XM_011531276.2:c.4549A>G, XM_011531276.1:c.4549A>G, NM_144658.4:c.4582A>G, NM_144658.3:c.4582A>G, XM_011531278.3:c.2737A>G, XM_011531278.2:c.2737A>G, XM_011531278.1:c.2737A>G, XM_047441841.1:c.4489A>G, XP_005262426.1:p.Ile1510Val, XP_005262425.1:p.Ile1541Val, XP_011529578.1:p.Ile1517Val, NP_653259.3:p.Ile1528Val, XP_011529580.1:p.Ile913Val, XP_047297797.1:p.Ile1497Val

Select item 147361920016.

rs1473619200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:118652029 (GRCh38)
X:117785992 (GRCh37)
Canonical SPDI:: NC_000023.11:118652028:G:A
Gene:: DOCK11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.118652029G>A, NC_000023.10:g.117785992G>A, XM_005262369.6:c.4593G>A, XM_005262369.5:c.4593G>A, XM_005262369.4:c.4593G>A, XM_005262369.3:c.4593G>A, XM_005262369.2:c.4593G>A, XM_005262369.1:c.4593G>A, XM_005262368.5:c.4686G>A, XM_005262368.4:c.4686G>A, XM_005262368.3:c.4686G>A, XM_005262368.2:c.4686G>A, XM_005262368.1:c.4686G>A, XM_011531276.4:c.4614G>A, XM_011531276.3:c.4614G>A, XM_011531276.2:c.4614G>A, XM_011531276.1:c.4614G>A, NM_144658.4:c.4647G>A, NM_144658.3:c.4647G>A, XM_011531278.3:c.2802G>A, XM_011531278.2:c.2802G>A, XM_011531278.1:c.2802G>A, XM_047441841.1:c.4554G>A

Select item 147277305517.

rs1472773055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:118599215 (GRCh38)
X:117733178 (GRCh37)
Canonical SPDI:: NC_000023.11:118599214:T:A
Gene:: DOCK11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118599215T>A, NC_000023.10:g.117733178T>A, XM_005262369.6:c.2456T>A, XM_005262369.5:c.2456T>A, XM_005262369.4:c.2456T>A, XM_005262369.3:c.2456T>A, XM_005262369.2:c.2456T>A, XM_005262369.1:c.2456T>A, XM_005262368.5:c.2549T>A, XM_005262368.4:c.2549T>A, XM_005262368.3:c.2549T>A, XM_005262368.2:c.2549T>A, XM_005262368.1:c.2549T>A, XM_011531276.4:c.2477T>A, XM_011531276.3:c.2477T>A, XM_011531276.2:c.2477T>A, XM_011531276.1:c.2477T>A, NM_144658.4:c.2549T>A, NM_144658.3:c.2549T>A, XM_011531278.3:c.665T>A, XM_011531278.2:c.665T>A, XM_011531278.1:c.665T>A, XM_047441841.1:c.2456T>A, XP_005262426.1:p.Ile819Asn, XP_005262425.1:p.Ile850Asn, XP_011529578.1:p.Ile826Asn, NP_653259.3:p.Ile850Asn, XP_011529580.1:p.Ile222Asn, XP_047297797.1:p.Ile819Asn

Select item 147231980418.

rs1472319804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118643514 (GRCh38)
X:117777477 (GRCh37)
Canonical SPDI:: NC_000023.11:118643513:C:T
Gene:: DOCK11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118643514C>T, NC_000023.10:g.117777477C>T, XM_005262369.6:c.4264C>T, XM_005262369.5:c.4264C>T, XM_005262369.4:c.4264C>T, XM_005262369.3:c.4264C>T, XM_005262369.2:c.4264C>T, XM_005262369.1:c.4264C>T, XM_005262368.5:c.4357C>T, XM_005262368.4:c.4357C>T, XM_005262368.3:c.4357C>T, XM_005262368.2:c.4357C>T, XM_005262368.1:c.4357C>T, XM_011531276.4:c.4285C>T, XM_011531276.3:c.4285C>T, XM_011531276.2:c.4285C>T, XM_011531276.1:c.4285C>T, NM_144658.4:c.4318C>T, NM_144658.3:c.4318C>T, XM_011531278.3:c.2473C>T, XM_011531278.2:c.2473C>T, XM_011531278.1:c.2473C>T, XM_047441841.1:c.4225C>T, XP_005262426.1:p.His1422Tyr, XP_005262425.1:p.His1453Tyr, XP_011529578.1:p.His1429Tyr, NP_653259.3:p.His1440Tyr, XP_011529580.1:p.His825Tyr, XP_047297797.1:p.His1409Tyr

Select item 147129939919.

rs1471299399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118605249 (GRCh38)
X:117739212 (GRCh37)
Canonical SPDI:: NC_000023.11:118605248:C:T
Gene:: DOCK11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.118605249C>T, NC_000023.10:g.117739212C>T, XM_005262369.6:c.2481C>T, XM_005262369.5:c.2481C>T, XM_005262369.4:c.2481C>T, XM_005262369.3:c.2481C>T, XM_005262369.2:c.2481C>T, XM_005262369.1:c.2481C>T, XM_005262368.5:c.2574C>T, XM_005262368.4:c.2574C>T, XM_005262368.3:c.2574C>T, XM_005262368.2:c.2574C>T, XM_005262368.1:c.2574C>T, XM_011531276.4:c.2502C>T, XM_011531276.3:c.2502C>T, XM_011531276.2:c.2502C>T, XM_011531276.1:c.2502C>T, NM_144658.4:c.2574C>T, NM_144658.3:c.2574C>T, XM_011531278.3:c.690C>T, XM_011531278.2:c.690C>T, XM_011531278.1:c.690C>T, XM_047441841.1:c.2481C>T

Select item 147089715420.

rs1470897154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:118680686 (GRCh38)
X:117814649 (GRCh37)
Canonical SPDI:: NC_000023.11:118680685:T:G
Gene:: DOCK11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.118680686T>G, NC_000023.10:g.117814649T>G, XM_005262369.6:c.5611T>G, XM_005262369.5:c.5611T>G, XM_005262369.4:c.5611T>G, XM_005262369.3:c.5611T>G, XM_005262369.2:c.5611T>G, XM_005262369.1:c.5611T>G, XM_005262368.5:c.5704T>G, XM_005262368.4:c.5704T>G, XM_005262368.3:c.5704T>G, XM_005262368.2:c.5704T>G, XM_005262368.1:c.5704T>G, XM_011531276.4:c.5632T>G, XM_011531276.3:c.5632T>G, XM_011531276.2:c.5632T>G, XM_011531276.1:c.5632T>G, NM_144658.4:c.5665T>G, NM_144658.3:c.5665T>G, XM_011531278.3:c.3820T>G, XM_011531278.2:c.3820T>G, XM_011531278.1:c.3820T>G, XM_047441841.1:c.5572T>G, XP_005262426.1:p.Leu1871Val, XP_005262425.1:p.Leu1902Val, XP_011529578.1:p.Leu1878Val, NP_653259.3:p.Leu1889Val, XP_011529580.1:p.Leu1274Val, XP_047297797.1:p.Leu1858Val

dbSNP

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 787

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