SNP Links for Protein (Select 578838636) - SNP

Links from Protein

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Select item 14843656501.

rs1484365650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135545497 (GRCh38)
X:134679422 (GRCh37)
Canonical SPDI:: NC_000023.11:135545496:C:T
Gene:: INTS6L (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.135545497C>T, NC_000023.10:g.134679422C>T, NG_055290.1:g.29872C>T, NM_182540.5:c.264C>T, NM_182540.7:c.264C>T, NM_182540.6:c.264C>T, NM_182540.4:c.264C>T, NM_001351601.1:c.264C>T, NM_001351601.3:c.264C>T, NM_001351601.2:c.264C>T, NM_001351604.1:c.264C>T, NM_001351604.3:c.264C>T, NM_001351604.2:c.264C>T, NM_001351606.1:c.-260C>T, NM_001351606.3:c.-260C>T, NM_001351606.2:c.-260C>T, NR_147256.1:n.631C>T, NR_147256.3:n.597C>T, NR_147256.2:n.597C>T, NM_001351603.1:c.264C>T, NM_001351603.3:c.264C>T, NM_001351603.2:c.264C>T, NM_001351605.1:c.264C>T, NM_001351605.3:c.264C>T, NM_001351605.2:c.264C>T, NW_004070887.1:g.476640C>T, XM_006724741.5:c.264C>T, XM_006724741.4:c.264C>T, XM_006724741.3:c.264C>T, XM_006724741.2:c.264C>T, XM_006724741.1:c.264C>T, XM_011531311.3:c.264C>T, XM_011531311.2:c.264C>T, XM_011531311.1:c.264C>T, XM_006724740.3:c.264C>T, XM_006724740.2:c.264C>T, XM_006724740.1:c.264C>T, XM_024452350.2:c.264C>T, XM_024452350.1:c.264C>T, XM_017029346.2:c.264C>T, XM_017029346.1:c.264C>T, XR_001755666.2:n.597C>T, XR_001755666.1:n.627C>T, XR_001755668.2:n.597C>T, XR_001755668.1:n.627C>T, XM_017029349.2:c.264C>T, XM_017029349.1:c.264C>T, XM_047441913.1:c.264C>T, XM_047441909.1:c.45C>T, XM_047441905.1:c.45C>T, XM_047441907.1:c.45C>T, XM_047441908.1:c.45C>T, XM_047441904.1:c.45C>T, XM_047441906.1:c.45C>T, XM_047441910.1:c.264C>T, XR_007068183.1:n.597C>T, XM_047441912.1:c.264C>T

Select item 14839612222.

rs1483961222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135521007 (GRCh38)
X:134654932 (GRCh37)
Canonical SPDI:: NC_000023.11:135521006:G:A,NC_000023.11:135521006:G:T
Gene:: INTS6L (Varview), INTS6L-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135521007G>A, NC_000023.11:g.135521007G>T, NC_000023.10:g.134654932G>A, NC_000023.10:g.134654932G>T, NG_055290.1:g.5382G>A, NG_055290.1:g.5382G>T, NM_182540.5:c.15G>A, NM_182540.5:c.15G>T, NM_182540.7:c.15G>A, NM_182540.7:c.15G>T, NM_182540.6:c.15G>A, NM_182540.6:c.15G>T, NM_182540.4:c.15G>A, NM_182540.4:c.15G>T, NM_001351601.1:c.15G>A, NM_001351601.1:c.15G>T, NM_001351601.3:c.15G>A, NM_001351601.3:c.15G>T, NM_001351601.2:c.15G>A, NM_001351601.2:c.15G>T, NM_001351604.1:c.15G>A, NM_001351604.1:c.15G>T, NM_001351604.3:c.15G>A, NM_001351604.3:c.15G>T, NM_001351604.2:c.15G>A, NM_001351604.2:c.15G>T, NM_001351606.1:c.-509G>A, NM_001351606.1:c.-509G>T, NM_001351606.3:c.-509G>A, NM_001351606.3:c.-509G>T, NM_001351606.2:c.-509G>A, NM_001351606.2:c.-509G>T, NR_147256.1:n.382G>A, NR_147256.1:n.382G>T, NR_147256.3:n.348G>A, NR_147256.3:n.348G>T, NR_147256.2:n.348G>A, NR_147256.2:n.348G>T, NM_001351603.1:c.15G>A, NM_001351603.1:c.15G>T, NM_001351603.3:c.15G>A, NM_001351603.3:c.15G>T, NM_001351603.2:c.15G>A, NM_001351603.2:c.15G>T, NM_001351605.1:c.15G>A, NM_001351605.1:c.15G>T, NM_001351605.3:c.15G>A, NM_001351605.3:c.15G>T, NM_001351605.2:c.15G>A, NM_001351605.2:c.15G>T, NW_004070887.1:g.452150G>A, NW_004070887.1:g.452150G>T, XM_006724741.5:c.15G>A, XM_006724741.5:c.15G>T, XM_006724741.4:c.15G>A, XM_006724741.4:c.15G>T, XM_006724741.3:c.15G>A, XM_006724741.3:c.15G>T, XM_006724741.2:c.15G>A, XM_006724741.2:c.15G>T, XM_006724741.1:c.15G>A, XM_006724741.1:c.15G>T, XM_011531311.3:c.15G>A, XM_011531311.3:c.15G>T, XM_011531311.2:c.15G>A, XM_011531311.2:c.15G>T, XM_011531311.1:c.15G>A, XM_011531311.1:c.15G>T, XM_006724740.3:c.15G>A, XM_006724740.3:c.15G>T, XM_006724740.2:c.15G>A, XM_006724740.2:c.15G>T, XM_006724740.1:c.15G>A, XM_006724740.1:c.15G>T, XM_024452350.2:c.15G>A, XM_024452350.2:c.15G>T, XM_024452350.1:c.15G>A, XM_024452350.1:c.15G>T, XM_017029346.2:c.15G>A, XM_017029346.2:c.15G>T, XM_017029346.1:c.15G>A, XM_017029346.1:c.15G>T, XR_001755666.2:n.348G>A, XR_001755666.2:n.348G>T, XR_001755666.1:n.378G>A, XR_001755666.1:n.378G>T, XR_001755668.2:n.348G>A, XR_001755668.2:n.348G>T, XR_001755668.1:n.378G>A, XR_001755668.1:n.378G>T, XM_017029349.2:c.15G>A, XM_017029349.2:c.15G>T, XM_017029349.1:c.15G>A, XM_017029349.1:c.15G>T, XM_047441913.1:c.15G>A, XM_047441913.1:c.15G>T, XM_047441910.1:c.15G>A, XM_047441910.1:c.15G>T, XR_007068183.1:n.348G>A, XR_007068183.1:n.348G>T, XM_047441912.1:c.15G>A, XM_047441912.1:c.15G>T

Select item 14815821293.

rs1481582129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135549700 (GRCh38)
X:134683625 (GRCh37)
Canonical SPDI:: NC_000023.11:135549699:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135549700T>C, NC_000023.10:g.134683625T>C, NG_055290.1:g.34075T>C, NM_182540.5:c.801T>C, NM_182540.7:c.801T>C, NM_182540.6:c.801T>C, NM_182540.4:c.801T>C, NM_001351601.1:c.801T>C, NM_001351601.3:c.801T>C, NM_001351601.2:c.801T>C, NM_001351604.1:c.801T>C, NM_001351604.3:c.801T>C, NM_001351604.2:c.801T>C, NM_001351606.1:c.207T>C, NM_001351606.3:c.207T>C, NM_001351606.2:c.207T>C, NR_147256.1:n.1168T>C, NR_147256.3:n.1134T>C, NR_147256.2:n.1134T>C, NM_001351603.1:c.801T>C, NM_001351603.3:c.801T>C, NM_001351603.2:c.801T>C, NM_001351605.1:c.801T>C, NM_001351605.3:c.801T>C, NM_001351605.2:c.801T>C, NW_004070887.1:g.480843T>C, XM_006724741.5:c.801T>C, XM_006724741.4:c.801T>C, XM_006724741.3:c.801T>C, XM_006724741.2:c.801T>C, XM_006724741.1:c.801T>C, XM_011531311.3:c.801T>C, XM_011531311.2:c.801T>C, XM_011531311.1:c.801T>C, XM_006724740.3:c.801T>C, XM_006724740.2:c.801T>C, XM_006724740.1:c.801T>C, XM_024452350.2:c.801T>C, XM_024452350.1:c.801T>C, XM_017029346.2:c.801T>C, XM_017029346.1:c.801T>C, XR_001755666.2:n.1134T>C, XR_001755666.1:n.1164T>C, XR_001755668.2:n.1134T>C, XR_001755668.1:n.1164T>C, XM_047441913.1:c.801T>C, XM_047441909.1:c.582T>C, XM_047441905.1:c.582T>C, XM_047441907.1:c.582T>C, XM_047441908.1:c.582T>C, XM_047441911.1:c.207T>C, XM_047441904.1:c.582T>C, XM_047441906.1:c.582T>C, XM_047441910.1:c.801T>C, XR_007068183.1:n.1134T>C, XM_047441912.1:c.801T>C

Select item 14805480094.

rs1480548009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135552084 (GRCh38)
X:134686009 (GRCh37)
Canonical SPDI:: NC_000023.11:135552083:C:G
Gene:: INTS6L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135552084C>G, NC_000023.10:g.134686009C>G, NG_055290.1:g.36459C>G, NM_182540.5:c.997C>G, NM_182540.7:c.997C>G, NM_182540.6:c.997C>G, NM_182540.4:c.997C>G, NM_001351601.1:c.997C>G, NM_001351601.3:c.997C>G, NM_001351601.2:c.997C>G, NM_001351604.1:c.997C>G, NM_001351604.3:c.997C>G, NM_001351604.2:c.997C>G, NM_001351606.1:c.403C>G, NM_001351606.3:c.403C>G, NM_001351606.2:c.403C>G, NR_147256.1:n.1364C>G, NR_147256.3:n.1330C>G, NR_147256.2:n.1330C>G, NM_001351603.1:c.997C>G, NM_001351603.3:c.997C>G, NM_001351603.2:c.997C>G, NM_001351605.1:c.997C>G, NM_001351605.3:c.997C>G, NM_001351605.2:c.997C>G, NW_004070887.1:g.483227C>G, XM_006724741.5:c.997C>G, XM_006724741.4:c.997C>G, XM_006724741.3:c.997C>G, XM_006724741.2:c.997C>G, XM_006724741.1:c.997C>G, XM_011531311.3:c.997C>G, XM_011531311.2:c.997C>G, XM_011531311.1:c.997C>G, XM_006724740.3:c.997C>G, XM_006724740.2:c.997C>G, XM_006724740.1:c.997C>G, XM_024452350.2:c.997C>G, XM_024452350.1:c.997C>G, XM_017029346.2:c.997C>G, XM_017029346.1:c.997C>G, XR_001755666.2:n.1330C>G, XR_001755666.1:n.1360C>G, XR_001755668.2:n.1330C>G, XR_001755668.1:n.1360C>G, XM_047441913.1:c.997C>G, XM_047441909.1:c.778C>G, XM_047441905.1:c.778C>G, XM_047441907.1:c.778C>G, XM_047441908.1:c.778C>G, XM_047441911.1:c.403C>G, XM_047441904.1:c.778C>G, XM_047441906.1:c.778C>G, XM_047441910.1:c.997C>G, XR_007068183.1:n.1330C>G, XM_047441912.1:c.997C>G, NP_872346.3:p.Leu333Val, NP_001338530.1:p.Leu333Val, NP_001338533.1:p.Leu333Val, NP_001338535.1:p.Leu135Val, NP_001338532.1:p.Leu333Val, NP_001338534.1:p.Leu333Val, XP_006724804.1:p.Leu333Val, XP_011529613.1:p.Leu333Val, XP_006724803.1:p.Leu333Val, XP_024308118.1:p.Leu333Val, XP_016884835.1:p.Leu333Val, XP_047297869.1:p.Leu333Val, XP_047297865.1:p.Leu260Val, XP_047297861.1:p.Leu260Val, XP_047297863.1:p.Leu260Val, XP_047297864.1:p.Leu260Val, XP_047297867.1:p.Leu135Val, XP_047297860.1:p.Leu260Val, XP_047297862.1:p.Leu260Val, XP_047297866.1:p.Leu333Val, XP_047297868.1:p.Leu333Val

Select item 14746476095.

rs1474647609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135546816 (GRCh38)
X:134680741 (GRCh37)
Canonical SPDI:: NC_000023.11:135546815:G:A
Gene:: INTS6L (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135546816G>A, NC_000023.10:g.134680741G>A, NG_055290.1:g.31191G>A, NM_182540.5:c.544G>A, NM_182540.7:c.544G>A, NM_182540.6:c.544G>A, NM_182540.4:c.544G>A, NM_001351601.1:c.544G>A, NM_001351601.3:c.544G>A, NM_001351601.2:c.544G>A, NM_001351604.1:c.544G>A, NM_001351604.3:c.544G>A, NM_001351604.2:c.544G>A, NM_001351606.1:c.-51G>A, NM_001351606.3:c.-51G>A, NM_001351606.2:c.-51G>A, NR_147256.1:n.911G>A, NR_147256.3:n.877G>A, NR_147256.2:n.877G>A, NM_001351603.1:c.544G>A, NM_001351603.3:c.544G>A, NM_001351603.2:c.544G>A, NM_001351605.1:c.544G>A, NM_001351605.3:c.544G>A, NM_001351605.2:c.544G>A, NW_004070887.1:g.477959G>A, XM_006724741.5:c.544G>A, XM_006724741.4:c.544G>A, XM_006724741.3:c.544G>A, XM_006724741.2:c.544G>A, XM_006724741.1:c.544G>A, XM_011531311.3:c.544G>A, XM_011531311.2:c.544G>A, XM_011531311.1:c.544G>A, XM_006724740.3:c.544G>A, XM_006724740.2:c.544G>A, XM_006724740.1:c.544G>A, XM_024452350.2:c.544G>A, XM_024452350.1:c.544G>A, XM_017029346.2:c.544G>A, XM_017029346.1:c.544G>A, XR_001755666.2:n.877G>A, XR_001755666.1:n.907G>A, XR_001755668.2:n.877G>A, XR_001755668.1:n.907G>A, XM_047441913.1:c.544G>A, XM_047441909.1:c.325G>A, XM_047441905.1:c.325G>A, XM_047441907.1:c.325G>A, XM_047441908.1:c.325G>A, XM_047441911.1:c.-51G>A, XM_047441904.1:c.325G>A, XM_047441906.1:c.325G>A, XM_047441910.1:c.544G>A, XR_007068183.1:n.877G>A, XM_047441912.1:c.544G>A, NP_872346.3:p.Glu182Lys, NP_001338530.1:p.Glu182Lys, NP_001338533.1:p.Glu182Lys, NP_001338532.1:p.Glu182Lys, NP_001338534.1:p.Glu182Lys, XP_006724804.1:p.Glu182Lys, XP_011529613.1:p.Glu182Lys, XP_006724803.1:p.Glu182Lys, XP_024308118.1:p.Glu182Lys, XP_016884835.1:p.Glu182Lys, XP_047297869.1:p.Glu182Lys, XP_047297865.1:p.Glu109Lys, XP_047297861.1:p.Glu109Lys, XP_047297863.1:p.Glu109Lys, XP_047297864.1:p.Glu109Lys, XP_047297860.1:p.Glu109Lys, XP_047297862.1:p.Glu109Lys, XP_047297866.1:p.Glu182Lys, XP_047297868.1:p.Glu182Lys

Select item 14711748656.

rs1471174865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135577214 (GRCh38)
X:134711139 (GRCh37)
Canonical SPDI:: NC_000023.11:135577213:G:A
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135577214G>A, NC_000023.10:g.134711139G>A, NG_055290.1:g.61589G>A, NM_182540.5:c.1795G>A, NM_182540.7:c.1795G>A, NM_182540.6:c.1795G>A, NM_182540.4:c.1795G>A, NM_001351601.1:c.1906G>A, NM_001351601.3:c.1906G>A, NM_001351601.2:c.1906G>A, NM_001351604.1:c.1795G>A, NM_001351604.3:c.1795G>A, NM_001351604.2:c.1795G>A, NM_001351606.1:c.1201G>A, NM_001351606.3:c.1201G>A, NM_001351606.2:c.1201G>A, NR_147256.1:n.2029G>A, NR_147256.3:n.1995G>A, NR_147256.2:n.1995G>A, NM_001351603.1:c.1795G>A, NM_001351603.3:c.1795G>A, NM_001351603.2:c.1795G>A, NM_001351605.1:c.1795G>A, NM_001351605.3:c.1795G>A, NM_001351605.2:c.1795G>A, NW_004070887.1:g.508357G>A, XM_006724741.5:c.1906G>A, XM_006724741.4:c.1906G>A, XM_006724741.3:c.1906G>A, XM_006724741.2:c.1906G>A, XM_006724741.1:c.1906G>A, XM_006724740.3:c.1906G>A, XM_006724740.2:c.1906G>A, XM_006724740.1:c.1906G>A, XM_024452350.2:c.1906G>A, XM_024452350.1:c.1906G>A, XM_047441909.1:c.1687G>A, XM_047441905.1:c.1576G>A, XM_047441907.1:c.1687G>A, XM_047441908.1:c.1576G>A, XM_047441911.1:c.1312G>A, XM_047441904.1:c.1687G>A, XM_047441906.1:c.1576G>A, XM_047441910.1:c.1906G>A, NP_872346.3:p.Asp599Asn, NP_001338530.1:p.Asp636Asn, NP_001338533.1:p.Asp599Asn, NP_001338535.1:p.Asp401Asn, NP_001338532.1:p.Asp599Asn, NP_001338534.1:p.Asp599Asn, XP_006724804.1:p.Asp636Asn, XP_006724803.1:p.Asp636Asn, XP_024308118.1:p.Asp636Asn, XP_047297865.1:p.Asp563Asn, XP_047297861.1:p.Asp526Asn, XP_047297863.1:p.Asp563Asn, XP_047297864.1:p.Asp526Asn, XP_047297867.1:p.Asp438Asn, XP_047297860.1:p.Asp563Asn, XP_047297862.1:p.Asp526Asn, XP_047297866.1:p.Asp636Asn

Select item 14669725227.

rs1466972522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135573009 (GRCh38)
X:134706934 (GRCh37)
Canonical SPDI:: NC_000023.11:135573008:C:T
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135573009C>T, NC_000023.10:g.134706934C>T, NG_055290.1:g.57384C>T, NM_182540.5:c.1482C>T, NM_182540.7:c.1482C>T, NM_182540.6:c.1482C>T, NM_182540.4:c.1482C>T, NM_001351601.1:c.1593C>T, NM_001351601.3:c.1593C>T, NM_001351601.2:c.1593C>T, NM_001351604.1:c.1482C>T, NM_001351604.3:c.1482C>T, NM_001351604.2:c.1482C>T, NM_001351606.1:c.888C>T, NM_001351606.3:c.888C>T, NM_001351606.2:c.888C>T, NR_147256.1:n.1716C>T, NR_147256.3:n.1682C>T, NR_147256.2:n.1682C>T, NM_001351603.1:c.1482C>T, NM_001351603.3:c.1482C>T, NM_001351603.2:c.1482C>T, NM_001351605.1:c.1482C>T, NM_001351605.3:c.1482C>T, NM_001351605.2:c.1482C>T, NW_004070887.1:g.504152C>T, XM_006724741.5:c.1593C>T, XM_006724741.4:c.1593C>T, XM_006724741.3:c.1593C>T, XM_006724741.2:c.1593C>T, XM_006724741.1:c.1593C>T, XM_006724740.3:c.1593C>T, XM_006724740.2:c.1593C>T, XM_006724740.1:c.1593C>T, XM_024452350.2:c.1593C>T, XM_024452350.1:c.1593C>T, XM_017029346.2:c.1593C>T, XM_017029346.1:c.1593C>T, XM_047441909.1:c.1374C>T, XM_047441905.1:c.1263C>T, XM_047441907.1:c.1374C>T, XM_047441908.1:c.1263C>T, XM_047441911.1:c.999C>T, XM_047441904.1:c.1374C>T, XM_047441906.1:c.1263C>T, XM_047441910.1:c.1593C>T

Select item 14654538518.

rs1465453851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135549659 (GRCh38)
X:134683584 (GRCh37)
Canonical SPDI:: NC_000023.11:135549658:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,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.135549659T>C, NC_000023.10:g.134683584T>C, NG_055290.1:g.34034T>C, NM_182540.5:c.760T>C, NM_182540.7:c.760T>C, NM_182540.6:c.760T>C, NM_182540.4:c.760T>C, NM_001351601.1:c.760T>C, NM_001351601.3:c.760T>C, NM_001351601.2:c.760T>C, NM_001351604.1:c.760T>C, NM_001351604.3:c.760T>C, NM_001351604.2:c.760T>C, NM_001351606.1:c.166T>C, NM_001351606.3:c.166T>C, NM_001351606.2:c.166T>C, NR_147256.1:n.1127T>C, NR_147256.3:n.1093T>C, NR_147256.2:n.1093T>C, NM_001351603.1:c.760T>C, NM_001351603.3:c.760T>C, NM_001351603.2:c.760T>C, NM_001351605.1:c.760T>C, NM_001351605.3:c.760T>C, NM_001351605.2:c.760T>C, NW_004070887.1:g.480802T>C, XM_006724741.5:c.760T>C, XM_006724741.4:c.760T>C, XM_006724741.3:c.760T>C, XM_006724741.2:c.760T>C, XM_006724741.1:c.760T>C, XM_011531311.3:c.760T>C, XM_011531311.2:c.760T>C, XM_011531311.1:c.760T>C, XM_006724740.3:c.760T>C, XM_006724740.2:c.760T>C, XM_006724740.1:c.760T>C, XM_024452350.2:c.760T>C, XM_024452350.1:c.760T>C, XM_017029346.2:c.760T>C, XM_017029346.1:c.760T>C, XR_001755666.2:n.1093T>C, XR_001755666.1:n.1123T>C, XR_001755668.2:n.1093T>C, XR_001755668.1:n.1123T>C, XM_047441913.1:c.760T>C, XM_047441909.1:c.541T>C, XM_047441905.1:c.541T>C, XM_047441907.1:c.541T>C, XM_047441908.1:c.541T>C, XM_047441911.1:c.166T>C, XM_047441904.1:c.541T>C, XM_047441906.1:c.541T>C, XM_047441910.1:c.760T>C, XR_007068183.1:n.1093T>C, XM_047441912.1:c.760T>C, NP_872346.3:p.Ser254Pro, NP_001338530.1:p.Ser254Pro, NP_001338533.1:p.Ser254Pro, NP_001338535.1:p.Ser56Pro, NP_001338532.1:p.Ser254Pro, NP_001338534.1:p.Ser254Pro, XP_006724804.1:p.Ser254Pro, XP_011529613.1:p.Ser254Pro, XP_006724803.1:p.Ser254Pro, XP_024308118.1:p.Ser254Pro, XP_016884835.1:p.Ser254Pro, XP_047297869.1:p.Ser254Pro, XP_047297865.1:p.Ser181Pro, XP_047297861.1:p.Ser181Pro, XP_047297863.1:p.Ser181Pro, XP_047297864.1:p.Ser181Pro, XP_047297867.1:p.Ser56Pro, XP_047297860.1:p.Ser181Pro, XP_047297862.1:p.Ser181Pro, XP_047297866.1:p.Ser254Pro, XP_047297868.1:p.Ser254Pro

Select item 14611350349.

rs1461135034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135570514 (GRCh38)
X:134704439 (GRCh37)
Canonical SPDI:: NC_000023.11:135570513:G:A
Gene:: INTS6L (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135570514G>A, NC_000023.10:g.134704439G>A, NG_055290.1:g.54889G>A, NM_001351601.1:c.1366G>A, NM_001351601.3:c.1366G>A, NM_001351601.2:c.1366G>A, NW_004070887.1:g.501657G>A, XM_006724741.5:c.1366G>A, XM_006724741.4:c.1366G>A, XM_006724741.3:c.1366G>A, XM_006724741.2:c.1366G>A, XM_006724741.1:c.1366G>A, XM_011531311.3:c.*821G>A, XM_011531311.2:c.*821G>A, XM_006724740.3:c.1366G>A, XM_006724740.2:c.1366G>A, XM_006724740.1:c.1366G>A, XM_024452350.2:c.1366G>A, XM_024452350.1:c.1366G>A, XM_017029346.2:c.1366G>A, XM_017029346.1:c.1366G>A, XM_047441913.1:c.*1139G>A, XM_047441909.1:c.1147G>A, XM_047441907.1:c.1147G>A, XM_047441911.1:c.772G>A, XM_047441904.1:c.1147G>A, XM_047441910.1:c.1366G>A, XR_007068183.1:n.1733G>A, XM_047441912.1:c.*26G>A, NP_001338530.1:p.Val456Ile, XP_006724804.1:p.Val456Ile, XP_006724803.1:p.Val456Ile, XP_024308118.1:p.Val456Ile, XP_016884835.1:p.Val456Ile, XP_047297865.1:p.Val383Ile, XP_047297863.1:p.Val383Ile, XP_047297867.1:p.Val258Ile, XP_047297860.1:p.Val383Ile, XP_047297866.1:p.Val456Ile

Select item 145917329810.

rs1459173298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135552120 (GRCh38)
X:134686045 (GRCh37)
Canonical SPDI:: NC_000023.11:135552119:C:A
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135552120C>A, NC_000023.10:g.134686045C>A, NG_055290.1:g.36495C>A, NM_182540.5:c.1033C>A, NM_182540.7:c.1033C>A, NM_182540.6:c.1033C>A, NM_182540.4:c.1033C>A, NM_001351601.1:c.1033C>A, NM_001351601.3:c.1033C>A, NM_001351601.2:c.1033C>A, NM_001351604.1:c.1033C>A, NM_001351604.3:c.1033C>A, NM_001351604.2:c.1033C>A, NM_001351606.1:c.439C>A, NM_001351606.3:c.439C>A, NM_001351606.2:c.439C>A, NR_147256.1:n.1400C>A, NR_147256.3:n.1366C>A, NR_147256.2:n.1366C>A, NM_001351603.1:c.1033C>A, NM_001351603.3:c.1033C>A, NM_001351603.2:c.1033C>A, NM_001351605.1:c.1033C>A, NM_001351605.3:c.1033C>A, NM_001351605.2:c.1033C>A, NW_004070887.1:g.483263C>A, XM_006724741.5:c.1033C>A, XM_006724741.4:c.1033C>A, XM_006724741.3:c.1033C>A, XM_006724741.2:c.1033C>A, XM_006724741.1:c.1033C>A, XM_011531311.3:c.1033C>A, XM_011531311.2:c.1033C>A, XM_011531311.1:c.1033C>A, XM_006724740.3:c.1033C>A, XM_006724740.2:c.1033C>A, XM_006724740.1:c.1033C>A, XM_024452350.2:c.1033C>A, XM_024452350.1:c.1033C>A, XM_017029346.2:c.1033C>A, XM_017029346.1:c.1033C>A, XR_001755666.2:n.1366C>A, XR_001755666.1:n.1396C>A, XR_001755668.2:n.1366C>A, XR_001755668.1:n.1396C>A, XM_047441913.1:c.1033C>A, XM_047441909.1:c.814C>A, XM_047441905.1:c.814C>A, XM_047441907.1:c.814C>A, XM_047441908.1:c.814C>A, XM_047441911.1:c.439C>A, XM_047441904.1:c.814C>A, XM_047441906.1:c.814C>A, XM_047441910.1:c.1033C>A, XR_007068183.1:n.1366C>A, XM_047441912.1:c.1033C>A

Select item 145643320811.

rs1456433208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:135573032 (GRCh38)
X:134706957 (GRCh37)
Canonical SPDI:: NC_000023.11:135573031:A:C,NC_000023.11:135573031:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135573032A>C, NC_000023.11:g.135573032A>G, NC_000023.10:g.134706957A>C, NC_000023.10:g.134706957A>G, NG_055290.1:g.57407A>C, NG_055290.1:g.57407A>G, NM_182540.5:c.1505A>C, NM_182540.5:c.1505A>G, NM_182540.7:c.1505A>C, NM_182540.7:c.1505A>G, NM_182540.6:c.1505A>C, NM_182540.6:c.1505A>G, NM_182540.4:c.1505A>C, NM_182540.4:c.1505A>G, NM_001351601.1:c.1616A>C, NM_001351601.1:c.1616A>G, NM_001351601.3:c.1616A>C, NM_001351601.3:c.1616A>G, NM_001351601.2:c.1616A>C, NM_001351601.2:c.1616A>G, NM_001351604.1:c.1505A>C, NM_001351604.1:c.1505A>G, NM_001351604.3:c.1505A>C, NM_001351604.3:c.1505A>G, NM_001351604.2:c.1505A>C, NM_001351604.2:c.1505A>G, NM_001351606.1:c.911A>C, NM_001351606.1:c.911A>G, NM_001351606.3:c.911A>C, NM_001351606.3:c.911A>G, NM_001351606.2:c.911A>C, NM_001351606.2:c.911A>G, NR_147256.1:n.1739A>C, NR_147256.1:n.1739A>G, NR_147256.3:n.1705A>C, NR_147256.3:n.1705A>G, NR_147256.2:n.1705A>C, NR_147256.2:n.1705A>G, NM_001351603.1:c.1505A>C, NM_001351603.1:c.1505A>G, NM_001351603.3:c.1505A>C, NM_001351603.3:c.1505A>G, NM_001351603.2:c.1505A>C, NM_001351603.2:c.1505A>G, NM_001351605.1:c.1505A>C, NM_001351605.1:c.1505A>G, NM_001351605.3:c.1505A>C, NM_001351605.3:c.1505A>G, NM_001351605.2:c.1505A>C, NM_001351605.2:c.1505A>G, NW_004070887.1:g.504175A>C, NW_004070887.1:g.504175A>G, XM_006724741.5:c.1616A>C, XM_006724741.5:c.1616A>G, XM_006724741.4:c.1616A>C, XM_006724741.4:c.1616A>G, XM_006724741.3:c.1616A>C, XM_006724741.3:c.1616A>G, XM_006724741.2:c.1616A>C, XM_006724741.2:c.1616A>G, XM_006724741.1:c.1616A>C, XM_006724741.1:c.1616A>G, XM_006724740.3:c.1616A>C, XM_006724740.3:c.1616A>G, XM_006724740.2:c.1616A>C, XM_006724740.2:c.1616A>G, XM_006724740.1:c.1616A>C, XM_006724740.1:c.1616A>G, XM_024452350.2:c.1616A>C, XM_024452350.2:c.1616A>G, XM_024452350.1:c.1616A>C, XM_024452350.1:c.1616A>G, XM_017029346.2:c.1616A>C, XM_017029346.2:c.1616A>G, XM_017029346.1:c.1616A>C, XM_017029346.1:c.1616A>G, XM_047441909.1:c.1397A>C, XM_047441909.1:c.1397A>G, XM_047441905.1:c.1286A>C, XM_047441905.1:c.1286A>G, XM_047441907.1:c.1397A>C, XM_047441907.1:c.1397A>G, XM_047441908.1:c.1286A>C, XM_047441908.1:c.1286A>G, XM_047441911.1:c.1022A>C, XM_047441911.1:c.1022A>G, XM_047441904.1:c.1397A>C, XM_047441904.1:c.1397A>G, XM_047441906.1:c.1286A>C, XM_047441906.1:c.1286A>G, XM_047441910.1:c.1616A>C, XM_047441910.1:c.1616A>G, NP_872346.3:p.Lys502Thr, NP_872346.3:p.Lys502Arg, NP_001338530.1:p.Lys539Thr, NP_001338530.1:p.Lys539Arg, NP_001338533.1:p.Lys502Thr, NP_001338533.1:p.Lys502Arg, NP_001338535.1:p.Lys304Thr, NP_001338535.1:p.Lys304Arg, NP_001338532.1:p.Lys502Thr, NP_001338532.1:p.Lys502Arg, NP_001338534.1:p.Lys502Thr, NP_001338534.1:p.Lys502Arg, XP_006724804.1:p.Lys539Thr, XP_006724804.1:p.Lys539Arg, XP_006724803.1:p.Lys539Thr, XP_006724803.1:p.Lys539Arg, XP_024308118.1:p.Lys539Thr, XP_024308118.1:p.Lys539Arg, XP_016884835.1:p.Lys539Thr, XP_016884835.1:p.Lys539Arg, XP_047297865.1:p.Lys466Thr, XP_047297865.1:p.Lys466Arg, XP_047297861.1:p.Lys429Thr, XP_047297861.1:p.Lys429Arg, XP_047297863.1:p.Lys466Thr, XP_047297863.1:p.Lys466Arg, XP_047297864.1:p.Lys429Thr, XP_047297864.1:p.Lys429Arg, XP_047297867.1:p.Lys341Thr, XP_047297867.1:p.Lys341Arg, XP_047297860.1:p.Lys466Thr, XP_047297860.1:p.Lys466Arg, XP_047297862.1:p.Lys429Thr, XP_047297862.1:p.Lys429Arg, XP_047297866.1:p.Lys539Thr, XP_047297866.1:p.Lys539Arg

Select item 145471024712.

rs1454710247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135577239 (GRCh38)
X:134711164 (GRCh37)
Canonical SPDI:: NC_000023.11:135577238:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135577239A>G, NC_000023.10:g.134711164A>G, NG_055290.1:g.61614A>G, NM_182540.5:c.1820A>G, NM_182540.7:c.1820A>G, NM_182540.6:c.1820A>G, NM_182540.4:c.1820A>G, NM_001351601.1:c.1931A>G, NM_001351601.3:c.1931A>G, NM_001351601.2:c.1931A>G, NM_001351604.1:c.1820A>G, NM_001351604.3:c.1820A>G, NM_001351604.2:c.1820A>G, NM_001351606.1:c.1226A>G, NM_001351606.3:c.1226A>G, NM_001351606.2:c.1226A>G, NR_147256.1:n.2054A>G, NR_147256.3:n.2020A>G, NR_147256.2:n.2020A>G, NM_001351603.1:c.1820A>G, NM_001351603.3:c.1820A>G, NM_001351603.2:c.1820A>G, NM_001351605.1:c.1820A>G, NM_001351605.3:c.1820A>G, NM_001351605.2:c.1820A>G, NW_004070887.1:g.508382A>G, XM_006724741.5:c.1931A>G, XM_006724741.4:c.1931A>G, XM_006724741.3:c.1931A>G, XM_006724741.2:c.1931A>G, XM_006724741.1:c.1931A>G, XM_006724740.3:c.1931A>G, XM_006724740.2:c.1931A>G, XM_006724740.1:c.1931A>G, XM_024452350.2:c.1931A>G, XM_024452350.1:c.1931A>G, XM_047441909.1:c.1712A>G, XM_047441905.1:c.1601A>G, XM_047441907.1:c.1712A>G, XM_047441908.1:c.1601A>G, XM_047441911.1:c.1337A>G, XM_047441904.1:c.1712A>G, XM_047441906.1:c.1601A>G, XM_047441910.1:c.1931A>G, NP_872346.3:p.Asn607Ser, NP_001338530.1:p.Asn644Ser, NP_001338533.1:p.Asn607Ser, NP_001338535.1:p.Asn409Ser, NP_001338532.1:p.Asn607Ser, NP_001338534.1:p.Asn607Ser, XP_006724804.1:p.Asn644Ser, XP_006724803.1:p.Asn644Ser, XP_024308118.1:p.Asn644Ser, XP_047297865.1:p.Asn571Ser, XP_047297861.1:p.Asn534Ser, XP_047297863.1:p.Asn571Ser, XP_047297864.1:p.Asn534Ser, XP_047297867.1:p.Asn446Ser, XP_047297860.1:p.Asn571Ser, XP_047297862.1:p.Asn534Ser, XP_047297866.1:p.Asn644Ser

Select item 145461821313.

rs1454618213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135574034 (GRCh38)
X:134707959 (GRCh37)
Canonical SPDI:: NC_000023.11:135574033:G:A,NC_000023.11:135574033:G:T
Gene:: INTS6L (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135574034G>A, NC_000023.11:g.135574034G>T, NC_000023.10:g.134707959G>A, NC_000023.10:g.134707959G>T, NG_055290.1:g.58409G>A, NG_055290.1:g.58409G>T, NM_182540.5:c.1602G>A, NM_182540.5:c.1602G>T, NM_182540.7:c.1602G>A, NM_182540.7:c.1602G>T, NM_182540.6:c.1602G>A, NM_182540.6:c.1602G>T, NM_182540.4:c.1602G>A, NM_182540.4:c.1602G>T, NM_001351601.1:c.1713G>A, NM_001351601.1:c.1713G>T, NM_001351601.3:c.1713G>A, NM_001351601.3:c.1713G>T, NM_001351601.2:c.1713G>A, NM_001351601.2:c.1713G>T, NM_001351604.1:c.1602G>A, NM_001351604.1:c.1602G>T, NM_001351604.3:c.1602G>A, NM_001351604.3:c.1602G>T, NM_001351604.2:c.1602G>A, NM_001351604.2:c.1602G>T, NM_001351606.1:c.1008G>A, NM_001351606.1:c.1008G>T, NM_001351606.3:c.1008G>A, NM_001351606.3:c.1008G>T, NM_001351606.2:c.1008G>A, NM_001351606.2:c.1008G>T, NR_147256.1:n.1836G>A, NR_147256.1:n.1836G>T, NR_147256.3:n.1802G>A, NR_147256.3:n.1802G>T, NR_147256.2:n.1802G>A, NR_147256.2:n.1802G>T, NM_001351603.1:c.1602G>A, NM_001351603.1:c.1602G>T, NM_001351603.3:c.1602G>A, NM_001351603.3:c.1602G>T, NM_001351603.2:c.1602G>A, NM_001351603.2:c.1602G>T, NM_001351605.1:c.1602G>A, NM_001351605.1:c.1602G>T, NM_001351605.3:c.1602G>A, NM_001351605.3:c.1602G>T, NM_001351605.2:c.1602G>A, NM_001351605.2:c.1602G>T, NW_004070887.1:g.505177G>A, NW_004070887.1:g.505177G>T, XM_006724741.5:c.1713G>A, XM_006724741.5:c.1713G>T, XM_006724741.4:c.1713G>A, XM_006724741.4:c.1713G>T, XM_006724741.3:c.1713G>A, XM_006724741.3:c.1713G>T, XM_006724741.2:c.1713G>A, XM_006724741.2:c.1713G>T, XM_006724741.1:c.1713G>A, XM_006724741.1:c.1713G>T, XM_006724740.3:c.1713G>A, XM_006724740.3:c.1713G>T, XM_006724740.2:c.1713G>A, XM_006724740.2:c.1713G>T, XM_006724740.1:c.1713G>A, XM_006724740.1:c.1713G>T, XM_024452350.2:c.1713G>A, XM_024452350.2:c.1713G>T, XM_024452350.1:c.1713G>A, XM_024452350.1:c.1713G>T, XM_047441909.1:c.1494G>A, XM_047441909.1:c.1494G>T, XM_047441905.1:c.1383G>A, XM_047441905.1:c.1383G>T, XM_047441907.1:c.1494G>A, XM_047441907.1:c.1494G>T, XM_047441908.1:c.1383G>A, XM_047441908.1:c.1383G>T, XM_047441911.1:c.1119G>A, XM_047441911.1:c.1119G>T, XM_047441904.1:c.1494G>A, XM_047441904.1:c.1494G>T, XM_047441906.1:c.1383G>A, XM_047441906.1:c.1383G>T, XM_047441910.1:c.1713G>A, XM_047441910.1:c.1713G>T

Select item 145038781414.

rs1450387814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135577339 (GRCh38)
X:134711264 (GRCh37)
Canonical SPDI:: NC_000023.11:135577338:A:C
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135577339A>C, NC_000023.10:g.134711264A>C, NG_055290.1:g.61714A>C, NM_182540.5:c.1920A>C, NM_182540.7:c.1920A>C, NM_182540.6:c.1920A>C, NM_182540.4:c.1920A>C, NM_001351601.1:c.2031A>C, NM_001351601.3:c.2031A>C, NM_001351601.2:c.2031A>C, NM_001351603.1:c.1920A>C, NM_001351603.3:c.1920A>C, NM_001351603.2:c.1920A>C, NW_004070887.1:g.508482A>C, XM_006724740.3:c.2031A>C, XM_006724740.2:c.2031A>C, XM_006724740.1:c.2031A>C, XM_047441909.1:c.1812A>C, XM_047441905.1:c.1701A>C, XM_047441911.1:c.1437A>C, XM_047441904.1:c.1812A>C, XM_047441906.1:c.1701A>C

Select item 144629781215.

rs1446297812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135575103 (GRCh38)
X:134709028 (GRCh37)
Canonical SPDI:: NC_000023.11:135575102:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.135575103A>G, NC_000023.10:g.134709028A>G, NG_055290.1:g.59478A>G, NM_182540.5:c.1650A>G, NM_182540.7:c.1650A>G, NM_182540.6:c.1650A>G, NM_182540.4:c.1650A>G, NM_001351601.1:c.1761A>G, NM_001351601.3:c.1761A>G, NM_001351601.2:c.1761A>G, NM_001351604.1:c.1650A>G, NM_001351604.3:c.1650A>G, NM_001351604.2:c.1650A>G, NM_001351606.1:c.1056A>G, NM_001351606.3:c.1056A>G, NM_001351606.2:c.1056A>G, NR_147256.1:n.1884A>G, NR_147256.3:n.1850A>G, NR_147256.2:n.1850A>G, NM_001351603.1:c.1650A>G, NM_001351603.3:c.1650A>G, NM_001351603.2:c.1650A>G, NM_001351605.1:c.1650A>G, NM_001351605.3:c.1650A>G, NM_001351605.2:c.1650A>G, NW_004070887.1:g.506246A>G, XM_006724741.5:c.1761A>G, XM_006724741.4:c.1761A>G, XM_006724741.3:c.1761A>G, XM_006724741.2:c.1761A>G, XM_006724741.1:c.1761A>G, XM_006724740.3:c.1761A>G, XM_006724740.2:c.1761A>G, XM_006724740.1:c.1761A>G, XM_024452350.2:c.1761A>G, XM_024452350.1:c.1761A>G, XM_047441909.1:c.1542A>G, XM_047441905.1:c.1431A>G, XM_047441907.1:c.1542A>G, XM_047441908.1:c.1431A>G, XM_047441911.1:c.1167A>G, XM_047441904.1:c.1542A>G, XM_047441906.1:c.1431A>G, XM_047441910.1:c.1761A>G

Select item 144506772516.

rs1445067725 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCTG>- [Show Flanks]
Chromosome:: X:135577301 (GRCh38)
X:134711226 (GRCh37)
Canonical SPDI:: NC_000023.11:135577298:TGTCCCTG:TG
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.135577301_135577306del, NC_000023.10:g.134711226_134711231del, NG_055290.1:g.61676_61681del, NM_182540.5:c.1882_1887del, NM_182540.7:c.1882_1887del, NM_182540.6:c.1882_1887del, NM_182540.4:c.1882_1887del, NM_001351601.1:c.1993_1998del, NM_001351601.3:c.1993_1998del, NM_001351601.2:c.1993_1998del, NM_001351603.1:c.1882_1887del, NM_001351603.3:c.1882_1887del, NM_001351603.2:c.1882_1887del, NW_004070887.1:g.508444_508449del, XM_006724740.3:c.1993_1998del, XM_006724740.2:c.1993_1998del, XM_006724740.1:c.1993_1998del, XM_047441909.1:c.1774_1779del, XM_047441905.1:c.1663_1668del, XM_047441911.1:c.1399_1404del, XM_047441904.1:c.1774_1779del, XM_047441906.1:c.1663_1668del, XM_047441910.1:c.1993_1998del, NP_872346.3:p.Ser628_Leu629del, NP_001338530.1:p.Ser665_Leu666del, NP_001338532.1:p.Ser628_Leu629del, XP_006724803.1:p.Ser665_Leu666del, XP_047297865.1:p.Ser592_Leu593del, XP_047297861.1:p.Ser555_Leu556del, XP_047297867.1:p.Ser467_Leu468del, XP_047297860.1:p.Ser592_Leu593del, XP_047297862.1:p.Ser555_Leu556del, XP_047297866.1:p.Ser665_Leu666del

Select item 144337460617.

rs1443374606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135521067 (GRCh38)
X:134654992 (GRCh37)
Canonical SPDI:: NC_000023.11:135521066:G:A
Gene:: INTS6L (Varview), INTS6L-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135521067G>A, NC_000023.10:g.134654992G>A, NG_055290.1:g.5442G>A, NM_182540.5:c.75G>A, NM_182540.7:c.75G>A, NM_182540.6:c.75G>A, NM_182540.4:c.75G>A, NM_001351601.1:c.75G>A, NM_001351601.3:c.75G>A, NM_001351601.2:c.75G>A, NM_001351604.1:c.75G>A, NM_001351604.3:c.75G>A, NM_001351604.2:c.75G>A, NM_001351606.1:c.-449G>A, NM_001351606.3:c.-449G>A, NM_001351606.2:c.-449G>A, NR_147256.1:n.442G>A, NR_147256.3:n.408G>A, NR_147256.2:n.408G>A, NM_001351603.1:c.75G>A, NM_001351603.3:c.75G>A, NM_001351603.2:c.75G>A, NM_001351605.1:c.75G>A, NM_001351605.3:c.75G>A, NM_001351605.2:c.75G>A, NW_004070887.1:g.452210G>A, XM_006724741.5:c.75G>A, XM_006724741.4:c.75G>A, XM_006724741.3:c.75G>A, XM_006724741.2:c.75G>A, XM_006724741.1:c.75G>A, XM_011531311.3:c.75G>A, XM_011531311.2:c.75G>A, XM_011531311.1:c.75G>A, XM_006724740.3:c.75G>A, XM_006724740.2:c.75G>A, XM_006724740.1:c.75G>A, XM_024452350.2:c.75G>A, XM_024452350.1:c.75G>A, XM_017029346.2:c.75G>A, XM_017029346.1:c.75G>A, XR_001755666.2:n.408G>A, XR_001755666.1:n.438G>A, XR_001755668.2:n.408G>A, XR_001755668.1:n.438G>A, XM_017029349.2:c.75G>A, XM_017029349.1:c.75G>A, XM_047441913.1:c.75G>A, XM_047441910.1:c.75G>A, XR_007068183.1:n.408G>A, XM_047441912.1:c.75G>A

Select item 144210971418.

rs1442109714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135582278 (GRCh38)
X:134716203 (GRCh37)
Canonical SPDI:: NC_000023.11:135582277:C:G
Gene:: INTS6L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135582278C>G, NC_000023.10:g.134716203C>G, NG_055290.1:g.66653C>G, NM_182540.5:c.*642C>G, NM_182540.7:c.*642C>G, NM_182540.6:c.*642C>G, NM_182540.4:c.*642C>G, NM_001351601.1:c.*642C>G, NM_001351601.3:c.*642C>G, NM_001351601.2:c.*642C>G, NM_001351604.1:c.*642C>G, NM_001351604.3:c.*642C>G, NM_001351604.2:c.*642C>G, NM_001351606.1:c.*642C>G, NM_001351606.3:c.*642C>G, NM_001351606.2:c.*642C>G, NR_147256.1:n.3330C>G, NR_147256.3:n.3296C>G, NR_147256.2:n.3296C>G, NM_001351603.1:c.2552C>G, NM_001351603.3:c.2552C>G, NM_001351603.2:c.2552C>G, NM_001351605.1:c.2420C>G, NM_001351605.3:c.2420C>G, NM_001351605.2:c.2420C>G, NW_004070887.1:g.513421C>G, XM_006724741.5:c.*642C>G, XM_006724741.4:c.*642C>G, XM_006724741.3:c.*642C>G, XM_006724741.2:c.*642C>G, XM_006724741.1:c.*642C>G, XM_006724740.3:c.2663C>G, XM_006724740.2:c.2663C>G, XM_006724740.1:c.2663C>G, XM_024452350.2:c.2531C>G, XM_024452350.1:c.2531C>G, XM_047441909.1:c.*642C>G, XM_047441905.1:c.*642C>G, XM_047441907.1:c.*642C>G, XM_047441908.1:c.*642C>G, XM_047441911.1:c.*642C>G, XM_047441904.1:c.2444C>G, XM_047441906.1:c.2333C>G, NP_001338532.1:p.Ser851Cys, NP_001338534.1:p.Ser807Cys, XP_006724803.1:p.Ser888Cys, XP_024308118.1:p.Ser844Cys, XP_047297860.1:p.Ser815Cys, XP_047297862.1:p.Ser778Cys

Select item 144177026019.

rs1441770260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135579889 (GRCh38)
X:134713814 (GRCh37)
Canonical SPDI:: NC_000023.11:135579888:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000016/3 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
G=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.135579889A>G, NC_000023.10:g.134713814A>G, NG_055290.1:g.64264A>G, NM_182540.5:c.2110A>G, NM_182540.7:c.2110A>G, NM_182540.6:c.2110A>G, NM_182540.4:c.2110A>G, NM_001351601.1:c.2221A>G, NM_001351601.3:c.2221A>G, NM_001351601.2:c.2221A>G, NM_001351604.1:c.1978A>G, NM_001351604.3:c.1978A>G, NM_001351604.2:c.1978A>G, NM_001351606.1:c.1384A>G, NM_001351606.3:c.1384A>G, NM_001351606.2:c.1384A>G, NR_147256.1:n.2212A>G, NR_147256.3:n.2178A>G, NR_147256.2:n.2178A>G, NM_001351603.1:c.2110A>G, NM_001351603.3:c.2110A>G, NM_001351603.2:c.2110A>G, NM_001351605.1:c.1978A>G, NM_001351605.3:c.1978A>G, NM_001351605.2:c.1978A>G, NW_004070887.1:g.511032A>G, XM_006724741.5:c.2089A>G, XM_006724741.4:c.2089A>G, XM_006724741.3:c.2089A>G, XM_006724741.2:c.2089A>G, XM_006724741.1:c.2089A>G, XM_006724740.3:c.2221A>G, XM_006724740.2:c.2221A>G, XM_006724740.1:c.2221A>G, XM_024452350.2:c.2089A>G, XM_024452350.1:c.2089A>G, XM_047441909.1:c.2002A>G, XM_047441905.1:c.1891A>G, XM_047441907.1:c.1870A>G, XM_047441908.1:c.1759A>G, XM_047441911.1:c.1627A>G, XM_047441904.1:c.2002A>G, XM_047441906.1:c.1891A>G, XM_047441910.1:c.*3A>G, NP_872346.3:p.Met704Val, NP_001338530.1:p.Met741Val, NP_001338533.1:p.Met660Val, NP_001338535.1:p.Met462Val, NP_001338532.1:p.Met704Val, NP_001338534.1:p.Met660Val, XP_006724804.1:p.Met697Val, XP_006724803.1:p.Met741Val, XP_024308118.1:p.Met697Val, XP_047297865.1:p.Met668Val, XP_047297861.1:p.Met631Val, XP_047297863.1:p.Met624Val, XP_047297864.1:p.Met587Val, XP_047297867.1:p.Met543Val, XP_047297860.1:p.Met668Val, XP_047297862.1:p.Met631Val

Select item 144073729120.

rs1440737291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:135552040 (GRCh38)
X:134685965 (GRCh37)
Canonical SPDI:: NC_000023.11:135552039:G:T
Gene:: INTS6L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135552040G>T, NC_000023.10:g.134685965G>T, NG_055290.1:g.36415G>T, NM_182540.5:c.953G>T, NM_182540.7:c.953G>T, NM_182540.6:c.953G>T, NM_182540.4:c.953G>T, NM_001351601.1:c.953G>T, NM_001351601.3:c.953G>T, NM_001351601.2:c.953G>T, NM_001351604.1:c.953G>T, NM_001351604.3:c.953G>T, NM_001351604.2:c.953G>T, NM_001351606.1:c.359G>T, NM_001351606.3:c.359G>T, NM_001351606.2:c.359G>T, NR_147256.1:n.1320G>T, NR_147256.3:n.1286G>T, NR_147256.2:n.1286G>T, NM_001351603.1:c.953G>T, NM_001351603.3:c.953G>T, NM_001351603.2:c.953G>T, NM_001351605.1:c.953G>T, NM_001351605.3:c.953G>T, NM_001351605.2:c.953G>T, NW_004070887.1:g.483183G>T, XM_006724741.5:c.953G>T, XM_006724741.4:c.953G>T, XM_006724741.3:c.953G>T, XM_006724741.2:c.953G>T, XM_006724741.1:c.953G>T, XM_011531311.3:c.953G>T, XM_011531311.2:c.953G>T, XM_011531311.1:c.953G>T, XM_006724740.3:c.953G>T, XM_006724740.2:c.953G>T, XM_006724740.1:c.953G>T, XM_024452350.2:c.953G>T, XM_024452350.1:c.953G>T, XM_017029346.2:c.953G>T, XM_017029346.1:c.953G>T, XR_001755666.2:n.1286G>T, XR_001755666.1:n.1316G>T, XR_001755668.2:n.1286G>T, XR_001755668.1:n.1316G>T, XM_047441913.1:c.953G>T, XM_047441909.1:c.734G>T, XM_047441905.1:c.734G>T, XM_047441907.1:c.734G>T, XM_047441908.1:c.734G>T, XM_047441911.1:c.359G>T, XM_047441904.1:c.734G>T, XM_047441906.1:c.734G>T, XM_047441910.1:c.953G>T, XR_007068183.1:n.1286G>T, XM_047441912.1:c.953G>T, NP_872346.3:p.Cys318Phe, NP_001338530.1:p.Cys318Phe, NP_001338533.1:p.Cys318Phe, NP_001338535.1:p.Cys120Phe, NP_001338532.1:p.Cys318Phe, NP_001338534.1:p.Cys318Phe, XP_006724804.1:p.Cys318Phe, XP_011529613.1:p.Cys318Phe, XP_006724803.1:p.Cys318Phe, XP_024308118.1:p.Cys318Phe, XP_016884835.1:p.Cys318Phe, XP_047297869.1:p.Cys318Phe, XP_047297865.1:p.Cys245Phe, XP_047297861.1:p.Cys245Phe, XP_047297863.1:p.Cys245Phe, XP_047297864.1:p.Cys245Phe, XP_047297867.1:p.Cys120Phe, XP_047297860.1:p.Cys245Phe, XP_047297862.1:p.Cys245Phe, XP_047297866.1:p.Cys318Phe, XP_047297868.1:p.Cys318Phe

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