SNP Links for Protein (Select 1022943271) - SNP

Links from Protein

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Select item 14909655091.

rs1490965509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:22870123 (GRCh38)
15:23002945 (GRCh37)
Canonical SPDI:: NC_000015.10:22870122:C:G
Gene:: CYFIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22870123C>G, NC_000015.9:g.23002945G>C, NG_054889.1:g.115784G>C, NM_014608.6:c.3667G>C, NM_014608.5:c.3667G>C, NM_014608.4:c.3667G>C, NM_014608.3:c.3667G>C, NM_014608.2:c.3667G>C, NM_001287810.4:c.3667G>C, NM_001287810.3:c.3667G>C, NM_001287810.2:c.3667G>C, NM_001287810.1:c.3667G>C, NM_001324122.3:c.1987G>C, NM_001324122.2:c.1987G>C, NM_001324122.1:c.1987G>C, NM_001324123.3:c.3667G>C, NM_001324123.2:c.3667G>C, NM_001324123.1:c.3667G>C, NM_001324124.3:c.3577G>C, NM_001324124.2:c.3577G>C, NM_001324124.1:c.3577G>C, NM_001324126.3:c.3565G>C, NM_001324126.2:c.3565G>C, NM_001324126.1:c.3565G>C, NM_001324125.3:c.3301G>C, NM_001324125.2:c.3301G>C, NM_001324125.1:c.3301G>C, NM_001033028.3:c.2374G>C, NM_001033028.2:c.2374G>C, NM_001033028.1:c.2374G>C, NM_001324120.2:c.3667G>C, NM_001324120.1:c.3667G>C, NM_001324119.2:c.3769G>C, NM_001324119.1:c.3769G>C, NG_021303.1:g.36483C>G, NW_021160017.1:g.3764199C>G, NP_055423.1:p.Asp1223His, NP_001274739.1:p.Asp1223His, NP_001311051.1:p.Asp663His, NP_001311052.1:p.Asp1223His, NP_001311053.1:p.Asp1193His, NP_001311055.1:p.Asp1189His, NP_001311054.1:p.Asp1101His, NP_001028200.1:p.Asp792His, NP_001311049.1:p.Asp1223His, NP_001311048.1:p.Asp1257His

Select item 14901669912.

rs1490166991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22932235 (GRCh38)
15:22940833 (GRCh37)
Canonical SPDI:: NC_000015.10:22932234:G:A
Gene:: CYFIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.22932235G>A, NC_000015.9:g.22940833C>T, NG_054889.1:g.53672C>T, NM_014608.6:c.1098C>T, NM_014608.5:c.1098C>T, NM_014608.4:c.1098C>T, NM_014608.3:c.1098C>T, NM_014608.2:c.1098C>T, NM_001287810.4:c.1098C>T, NM_001287810.3:c.1098C>T, NM_001287810.2:c.1098C>T, NM_001287810.1:c.1098C>T, NM_001324122.3:c.-731C>T, NM_001324122.2:c.-731C>T, NM_001324122.1:c.-731C>T, NM_001324123.3:c.1098C>T, NM_001324123.2:c.1098C>T, NM_001324123.1:c.1098C>T, NM_001324124.3:c.1008C>T, NM_001324124.2:c.1008C>T, NM_001324124.1:c.1008C>T, NM_001324126.3:c.996C>T, NM_001324126.2:c.996C>T, NM_001324126.1:c.996C>T, NM_001324125.3:c.732C>T, NM_001324125.2:c.732C>T, NM_001324125.1:c.732C>T, NM_001324120.2:c.1098C>T, NM_001324120.1:c.1098C>T, NM_001324119.2:c.1200C>T, NM_001324119.1:c.1200C>T, NW_021160017.1:g.3826320G>A, NT_187603.1:g.29264G>A

Select item 14880275753.

rs1488027575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:22939298 (GRCh38)
15:22933770 (GRCh37)
Canonical SPDI:: NC_000015.10:22939297:A:G
Gene:: CYFIP1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.22939298A>G, NC_000015.9:g.22933770T>C, NG_054889.1:g.46609T>C, NM_014608.6:c.689T>C, NM_014608.5:c.689T>C, NM_014608.4:c.689T>C, NM_014608.3:c.689T>C, NM_014608.2:c.689T>C, NM_001287810.4:c.689T>C, NM_001287810.3:c.689T>C, NM_001287810.2:c.689T>C, NM_001287810.1:c.689T>C, NM_001324122.3:c.-1140T>C, NM_001324122.2:c.-1140T>C, NM_001324122.1:c.-1140T>C, NM_001324123.3:c.689T>C, NM_001324123.2:c.689T>C, NM_001324123.1:c.689T>C, NM_001324124.3:c.599T>C, NM_001324124.2:c.599T>C, NM_001324124.1:c.599T>C, NM_001324126.3:c.587T>C, NM_001324126.2:c.587T>C, NM_001324126.1:c.587T>C, NM_001324125.3:c.323T>C, NM_001324125.2:c.323T>C, NM_001324125.1:c.323T>C, NM_001324120.2:c.689T>C, NM_001324120.1:c.689T>C, NM_001324119.2:c.791T>C, NM_001324119.1:c.791T>C, NW_021160017.1:g.3833386A>G, NT_187603.1:g.36327A>G, NP_055423.1:p.Val230Ala, NP_001274739.1:p.Val230Ala, NP_001311052.1:p.Val230Ala, NP_001311053.1:p.Val200Ala, NP_001311055.1:p.Val196Ala, NP_001311054.1:p.Val108Ala, NP_001311049.1:p.Val230Ala, NP_001311048.1:p.Val264Ala

Select item 14861602824.

rs1486160282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:22910611 (GRCh38)
15:22962457 (GRCh37)
Canonical SPDI:: NC_000015.10:22910610:C:A,NC_000015.10:22910610:C:G,NC_000015.10:22910610:C:T
Gene:: CYFIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.22910611C>A, NC_000015.10:g.22910611C>G, NC_000015.10:g.22910611C>T, NC_000015.9:g.22962457G>T, NC_000015.9:g.22962457G>C, NC_000015.9:g.22962457G>A, NG_054889.1:g.75296G>T, NG_054889.1:g.75296G>C, NG_054889.1:g.75296G>A, NM_014608.6:c.2177G>T, NM_014608.6:c.2177G>C, NM_014608.6:c.2177G>A, NM_014608.5:c.2177G>T, NM_014608.5:c.2177G>C, NM_014608.5:c.2177G>A, NM_014608.4:c.2177G>T, NM_014608.4:c.2177G>C, NM_014608.4:c.2177G>A, NM_014608.3:c.2177G>T, NM_014608.3:c.2177G>C, NM_014608.3:c.2177G>A, NM_014608.2:c.2177G>T, NM_014608.2:c.2177G>C, NM_014608.2:c.2177G>A, NM_001287810.4:c.2177G>T, NM_001287810.4:c.2177G>C, NM_001287810.4:c.2177G>A, NM_001287810.3:c.2177G>T, NM_001287810.3:c.2177G>C, NM_001287810.3:c.2177G>A, NM_001287810.2:c.2177G>T, NM_001287810.2:c.2177G>C, NM_001287810.2:c.2177G>A, NM_001287810.1:c.2177G>T, NM_001287810.1:c.2177G>C, NM_001287810.1:c.2177G>A, NM_001324122.3:c.497G>T, NM_001324122.3:c.497G>C, NM_001324122.3:c.497G>A, NM_001324122.2:c.497G>T, NM_001324122.2:c.497G>C, NM_001324122.2:c.497G>A, NM_001324122.1:c.497G>T, NM_001324122.1:c.497G>C, NM_001324122.1:c.497G>A, NM_001324123.3:c.2177G>T, NM_001324123.3:c.2177G>C, NM_001324123.3:c.2177G>A, NM_001324123.2:c.2177G>T, NM_001324123.2:c.2177G>C, NM_001324123.2:c.2177G>A, NM_001324123.1:c.2177G>T, NM_001324123.1:c.2177G>C, NM_001324123.1:c.2177G>A, NM_001324124.3:c.2087G>T, NM_001324124.3:c.2087G>C, NM_001324124.3:c.2087G>A, NM_001324124.2:c.2087G>T, NM_001324124.2:c.2087G>C, NM_001324124.2:c.2087G>A, NM_001324124.1:c.2087G>T, NM_001324124.1:c.2087G>C, NM_001324124.1:c.2087G>A, NM_001324126.3:c.2075G>T, NM_001324126.3:c.2075G>C, NM_001324126.3:c.2075G>A, NM_001324126.2:c.2075G>T, NM_001324126.2:c.2075G>C, NM_001324126.2:c.2075G>A, NM_001324126.1:c.2075G>T, NM_001324126.1:c.2075G>C, NM_001324126.1:c.2075G>A, NM_001324125.3:c.1811G>T, NM_001324125.3:c.1811G>C, NM_001324125.3:c.1811G>A, NM_001324125.2:c.1811G>T, NM_001324125.2:c.1811G>C, NM_001324125.2:c.1811G>A, NM_001324125.1:c.1811G>T, NM_001324125.1:c.1811G>C, NM_001324125.1:c.1811G>A, NM_001033028.3:c.884G>T, NM_001033028.3:c.884G>C, NM_001033028.3:c.884G>A, NM_001033028.2:c.884G>T, NM_001033028.2:c.884G>C, NM_001033028.2:c.884G>A, NM_001033028.1:c.884G>T, NM_001033028.1:c.884G>C, NM_001033028.1:c.884G>A, NM_001324120.2:c.2177G>T, NM_001324120.2:c.2177G>C, NM_001324120.2:c.2177G>A, NM_001324120.1:c.2177G>T, NM_001324120.1:c.2177G>C, NM_001324120.1:c.2177G>A, NM_001324119.2:c.2279G>T, NM_001324119.2:c.2279G>C, NM_001324119.2:c.2279G>A, NM_001324119.1:c.2279G>T, NM_001324119.1:c.2279G>C, NM_001324119.1:c.2279G>A, NW_021160017.1:g.3804693C>A, NW_021160017.1:g.3804693C>G, NW_021160017.1:g.3804693C>T, NT_187603.1:g.7650C>A, NT_187603.1:g.7650C>G, NT_187603.1:g.7650C>T, NP_055423.1:p.Arg726Leu, NP_055423.1:p.Arg726Pro, NP_055423.1:p.Arg726Gln, NP_001274739.1:p.Arg726Leu, NP_001274739.1:p.Arg726Pro, NP_001274739.1:p.Arg726Gln, NP_001311051.1:p.Arg166Leu, NP_001311051.1:p.Arg166Pro, NP_001311051.1:p.Arg166Gln, NP_001311052.1:p.Arg726Leu, NP_001311052.1:p.Arg726Pro, NP_001311052.1:p.Arg726Gln, NP_001311053.1:p.Arg696Leu, NP_001311053.1:p.Arg696Pro, NP_001311053.1:p.Arg696Gln, NP_001311055.1:p.Arg692Leu, NP_001311055.1:p.Arg692Pro, NP_001311055.1:p.Arg692Gln, NP_001311054.1:p.Arg604Leu, NP_001311054.1:p.Arg604Pro, NP_001311054.1:p.Arg604Gln, NP_001028200.1:p.Arg295Leu, NP_001028200.1:p.Arg295Pro, NP_001028200.1:p.Arg295Gln, NP_001311049.1:p.Arg726Leu, NP_001311049.1:p.Arg726Pro, NP_001311049.1:p.Arg726Gln, NP_001311048.1:p.Arg760Leu, NP_001311048.1:p.Arg760Pro, NP_001311048.1:p.Arg760Gln

Select item 14857954475.

rs1485795447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:22903899 (GRCh38)
15:22969169 (GRCh37)
Canonical SPDI:: NC_000015.10:22903898:C:G
Gene:: CYFIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22903899C>G, NC_000015.9:g.22969169G>C, NG_054889.1:g.82008G>C, NM_014608.6:c.2395G>C, NM_014608.5:c.2395G>C, NM_014608.4:c.2395G>C, NM_014608.3:c.2395G>C, NM_014608.2:c.2395G>C, NM_001287810.4:c.2395G>C, NM_001287810.3:c.2395G>C, NM_001287810.2:c.2395G>C, NM_001287810.1:c.2395G>C, NM_001324122.3:c.715G>C, NM_001324122.2:c.715G>C, NM_001324122.1:c.715G>C, NM_001324123.3:c.2395G>C, NM_001324123.2:c.2395G>C, NM_001324123.1:c.2395G>C, NM_001324124.3:c.2305G>C, NM_001324124.2:c.2305G>C, NM_001324124.1:c.2305G>C, NM_001324126.3:c.2293G>C, NM_001324126.2:c.2293G>C, NM_001324126.1:c.2293G>C, NM_001324125.3:c.2029G>C, NM_001324125.2:c.2029G>C, NM_001324125.1:c.2029G>C, NM_001033028.3:c.1102G>C, NM_001033028.2:c.1102G>C, NM_001033028.1:c.1102G>C, NM_001324120.2:c.2395G>C, NM_001324120.1:c.2395G>C, NM_001324119.2:c.2497G>C, NM_001324119.1:c.2497G>C, NW_021160017.1:g.3797981C>G, NT_187603.1:g.939C>G, NP_055423.1:p.Asp799His, NP_001274739.1:p.Asp799His, NP_001311051.1:p.Asp239His, NP_001311052.1:p.Asp799His, NP_001311053.1:p.Asp769His, NP_001311055.1:p.Asp765His, NP_001311054.1:p.Asp677His, NP_001028200.1:p.Asp368His, NP_001311049.1:p.Asp799His, NP_001311048.1:p.Asp833His

Select item 14840648706.

rs1484064870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:22916581 (GRCh38)
15:22956487 (GRCh37)
Canonical SPDI:: NC_000015.10:22916580:C:A,NC_000015.10:22916580:C:T
Gene:: CYFIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000015.10:g.22916581C>A, NC_000015.10:g.22916581C>T, NC_000015.9:g.22956487G>T, NC_000015.9:g.22956487G>A, NG_054889.1:g.69326G>T, NG_054889.1:g.69326G>A, NM_014608.6:c.1724G>T, NM_014608.6:c.1724G>A, NM_014608.5:c.1724G>T, NM_014608.5:c.1724G>A, NM_014608.4:c.1724G>T, NM_014608.4:c.1724G>A, NM_014608.3:c.1724G>T, NM_014608.3:c.1724G>A, NM_014608.2:c.1724G>T, NM_014608.2:c.1724G>A, NM_001287810.4:c.1724G>T, NM_001287810.4:c.1724G>A, NM_001287810.3:c.1724G>T, NM_001287810.3:c.1724G>A, NM_001287810.2:c.1724G>T, NM_001287810.2:c.1724G>A, NM_001287810.1:c.1724G>T, NM_001287810.1:c.1724G>A, NM_001324122.3:c.44G>T, NM_001324122.3:c.44G>A, NM_001324122.2:c.44G>T, NM_001324122.2:c.44G>A, NM_001324122.1:c.44G>T, NM_001324122.1:c.44G>A, NM_001324123.3:c.1724G>T, NM_001324123.3:c.1724G>A, NM_001324123.2:c.1724G>T, NM_001324123.2:c.1724G>A, NM_001324123.1:c.1724G>T, NM_001324123.1:c.1724G>A, NM_001324124.3:c.1634G>T, NM_001324124.3:c.1634G>A, NM_001324124.2:c.1634G>T, NM_001324124.2:c.1634G>A, NM_001324124.1:c.1634G>T, NM_001324124.1:c.1634G>A, NM_001324126.3:c.1622G>T, NM_001324126.3:c.1622G>A, NM_001324126.2:c.1622G>T, NM_001324126.2:c.1622G>A, NM_001324126.1:c.1622G>T, NM_001324126.1:c.1622G>A, NM_001324125.3:c.1358G>T, NM_001324125.3:c.1358G>A, NM_001324125.2:c.1358G>T, NM_001324125.2:c.1358G>A, NM_001324125.1:c.1358G>T, NM_001324125.1:c.1358G>A, NM_001033028.3:c.431G>T, NM_001033028.3:c.431G>A, NM_001033028.2:c.431G>T, NM_001033028.2:c.431G>A, NM_001033028.1:c.431G>T, NM_001033028.1:c.431G>A, NM_001324120.2:c.1724G>T, NM_001324120.2:c.1724G>A, NM_001324120.1:c.1724G>T, NM_001324120.1:c.1724G>A, NM_001324119.2:c.1826G>T, NM_001324119.2:c.1826G>A, NM_001324119.1:c.1826G>T, NM_001324119.1:c.1826G>A, NW_021160017.1:g.3810665C>A, NW_021160017.1:g.3810665C>T, NT_187603.1:g.13621C>A, NT_187603.1:g.13621C>T, NP_055423.1:p.Gly575Val, NP_055423.1:p.Gly575Asp, NP_001274739.1:p.Gly575Val, NP_001274739.1:p.Gly575Asp, NP_001311051.1:p.Gly15Val, NP_001311051.1:p.Gly15Asp, NP_001311052.1:p.Gly575Val, NP_001311052.1:p.Gly575Asp, NP_001311053.1:p.Gly545Val, NP_001311053.1:p.Gly545Asp, NP_001311055.1:p.Gly541Val, NP_001311055.1:p.Gly541Asp, NP_001311054.1:p.Gly453Val, NP_001311054.1:p.Gly453Asp, NP_001028200.1:p.Gly144Val, NP_001028200.1:p.Gly144Asp, NP_001311049.1:p.Gly575Val, NP_001311049.1:p.Gly575Asp, NP_001311048.1:p.Gly609Val, NP_001311048.1:p.Gly609Asp

Select item 14827753997.

rs1482775399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:22875266 (GRCh38)
15:22997802 (GRCh37)
Canonical SPDI:: NC_000015.10:22875265:T:C
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.22875266T>C, NC_000015.9:g.22997802A>G, NG_054889.1:g.110641A>G, NM_014608.6:c.3048A>G, NM_014608.5:c.3048A>G, NM_014608.4:c.3048A>G, NM_014608.3:c.3048A>G, NM_014608.2:c.3048A>G, NM_001287810.4:c.3048A>G, NM_001287810.3:c.3048A>G, NM_001287810.2:c.3048A>G, NM_001287810.1:c.3048A>G, NM_001324122.3:c.1368A>G, NM_001324122.2:c.1368A>G, NM_001324122.1:c.1368A>G, NM_001324123.3:c.3048A>G, NM_001324123.2:c.3048A>G, NM_001324123.1:c.3048A>G, NM_001324124.3:c.2958A>G, NM_001324124.2:c.2958A>G, NM_001324124.1:c.2958A>G, NM_001324126.3:c.2946A>G, NM_001324126.2:c.2946A>G, NM_001324126.1:c.2946A>G, NM_001324125.3:c.2682A>G, NM_001324125.2:c.2682A>G, NM_001324125.1:c.2682A>G, NM_001033028.3:c.1755A>G, NM_001033028.2:c.1755A>G, NM_001033028.1:c.1755A>G, NM_001324120.2:c.3048A>G, NM_001324120.1:c.3048A>G, NM_001324119.2:c.3150A>G, NM_001324119.1:c.3150A>G, NW_021160017.1:g.3769341T>C

Select item 14812582018.

rs1481258201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22873640 (GRCh38)
15:22999428 (GRCh37)
Canonical SPDI:: NC_000015.10:22873639:G:A
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.22873640G>A, NC_000015.9:g.22999428C>T, NG_054889.1:g.112267C>T, NM_014608.6:c.3300C>T, NM_014608.5:c.3300C>T, NM_014608.4:c.3300C>T, NM_014608.3:c.3300C>T, NM_014608.2:c.3300C>T, NM_001287810.4:c.3300C>T, NM_001287810.3:c.3300C>T, NM_001287810.2:c.3300C>T, NM_001287810.1:c.3300C>T, NM_001324122.3:c.1620C>T, NM_001324122.2:c.1620C>T, NM_001324122.1:c.1620C>T, NM_001324123.3:c.3300C>T, NM_001324123.2:c.3300C>T, NM_001324123.1:c.3300C>T, NM_001324124.3:c.3210C>T, NM_001324124.2:c.3210C>T, NM_001324124.1:c.3210C>T, NM_001324126.3:c.3198C>T, NM_001324126.2:c.3198C>T, NM_001324126.1:c.3198C>T, NM_001324125.3:c.2934C>T, NM_001324125.2:c.2934C>T, NM_001324125.1:c.2934C>T, NM_001033028.3:c.2007C>T, NM_001033028.2:c.2007C>T, NM_001033028.1:c.2007C>T, NM_001324120.2:c.3300C>T, NM_001324120.1:c.3300C>T, NM_001324119.2:c.3402C>T, NM_001324119.1:c.3402C>T, NW_021160017.1:g.3767715G>A

Select item 14796789239.

rs1479678923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:22912225 (GRCh38)
15:22960843 (GRCh37)
Canonical SPDI:: NC_000015.10:22912224:A:G
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.22912225A>G, NC_000015.9:g.22960843T>C, NG_054889.1:g.73682T>C, NM_014608.6:c.2036T>C, NM_014608.5:c.2036T>C, NM_014608.4:c.2036T>C, NM_014608.3:c.2036T>C, NM_014608.2:c.2036T>C, NM_001287810.4:c.2036T>C, NM_001287810.3:c.2036T>C, NM_001287810.2:c.2036T>C, NM_001287810.1:c.2036T>C, NM_001324122.3:c.356T>C, NM_001324122.2:c.356T>C, NM_001324122.1:c.356T>C, NM_001324123.3:c.2036T>C, NM_001324123.2:c.2036T>C, NM_001324123.1:c.2036T>C, NM_001324124.3:c.1946T>C, NM_001324124.2:c.1946T>C, NM_001324124.1:c.1946T>C, NM_001324126.3:c.1934T>C, NM_001324126.2:c.1934T>C, NM_001324126.1:c.1934T>C, NM_001324125.3:c.1670T>C, NM_001324125.2:c.1670T>C, NM_001324125.1:c.1670T>C, NM_001033028.3:c.743T>C, NM_001033028.2:c.743T>C, NM_001033028.1:c.743T>C, NM_001324120.2:c.2036T>C, NM_001324120.1:c.2036T>C, NM_001324119.2:c.2138T>C, NM_001324119.1:c.2138T>C, NW_021160017.1:g.3806307A>G, NT_187603.1:g.9264A>G, NP_055423.1:p.Leu679Pro, NP_001274739.1:p.Leu679Pro, NP_001311051.1:p.Leu119Pro, NP_001311052.1:p.Leu679Pro, NP_001311053.1:p.Leu649Pro, NP_001311055.1:p.Leu645Pro, NP_001311054.1:p.Leu557Pro, NP_001028200.1:p.Leu248Pro, NP_001311049.1:p.Leu679Pro, NP_001311048.1:p.Leu713Pro

Select item 147964554810.

rs1479645548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:22882884 (GRCh38)
15:22990184 (GRCh37)
Canonical SPDI:: NC_000015.10:22882883:T:C
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.22882884T>C, NC_000015.9:g.22990184A>G, NG_054889.1:g.103023A>G, NM_014608.6:c.2804A>G, NM_014608.5:c.2804A>G, NM_014608.4:c.2804A>G, NM_014608.3:c.2804A>G, NM_014608.2:c.2804A>G, NM_001287810.4:c.2804A>G, NM_001287810.3:c.2804A>G, NM_001287810.2:c.2804A>G, NM_001287810.1:c.2804A>G, NM_001324122.3:c.1124A>G, NM_001324122.2:c.1124A>G, NM_001324122.1:c.1124A>G, NM_001324123.3:c.2804A>G, NM_001324123.2:c.2804A>G, NM_001324123.1:c.2804A>G, NM_001324124.3:c.2714A>G, NM_001324124.2:c.2714A>G, NM_001324124.1:c.2714A>G, NM_001324126.3:c.2702A>G, NM_001324126.2:c.2702A>G, NM_001324126.1:c.2702A>G, NM_001324125.3:c.2438A>G, NM_001324125.2:c.2438A>G, NM_001324125.1:c.2438A>G, NM_001033028.3:c.1511A>G, NM_001033028.2:c.1511A>G, NM_001033028.1:c.1511A>G, NM_001324120.2:c.2804A>G, NM_001324120.1:c.2804A>G, NM_001324119.2:c.2906A>G, NM_001324119.1:c.2906A>G, NW_021160017.1:g.3776965T>C, NP_055423.1:p.Lys935Arg, NP_001274739.1:p.Lys935Arg, NP_001311051.1:p.Lys375Arg, NP_001311052.1:p.Lys935Arg, NP_001311053.1:p.Lys905Arg, NP_001311055.1:p.Lys901Arg, NP_001311054.1:p.Lys813Arg, NP_001028200.1:p.Lys504Arg, NP_001311049.1:p.Lys935Arg, NP_001311048.1:p.Lys969Arg

Select item 147931234911.

rs1479312349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:22870039 (GRCh38)
15:23003029 (GRCh37)
Canonical SPDI:: NC_000015.10:22870038:C:T
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.22870039C>T, NC_000015.9:g.23003029G>A, NG_054889.1:g.115868G>A, NM_014608.6:c.3751G>A, NM_014608.5:c.3751G>A, NM_014608.4:c.3751G>A, NM_014608.3:c.3751G>A, NM_014608.2:c.3751G>A, NM_001287810.4:c.3751G>A, NM_001287810.3:c.3751G>A, NM_001287810.2:c.3751G>A, NM_001287810.1:c.3751G>A, NM_001324122.3:c.2071G>A, NM_001324122.2:c.2071G>A, NM_001324122.1:c.2071G>A, NM_001324123.3:c.3751G>A, NM_001324123.2:c.3751G>A, NM_001324123.1:c.3751G>A, NM_001324124.3:c.3661G>A, NM_001324124.2:c.3661G>A, NM_001324124.1:c.3661G>A, NM_001324126.3:c.3649G>A, NM_001324126.2:c.3649G>A, NM_001324126.1:c.3649G>A, NM_001324125.3:c.3385G>A, NM_001324125.2:c.3385G>A, NM_001324125.1:c.3385G>A, NM_001033028.3:c.2458G>A, NM_001033028.2:c.2458G>A, NM_001033028.1:c.2458G>A, NM_001324120.2:c.3751G>A, NM_001324120.1:c.3751G>A, NM_001324119.2:c.3853G>A, NM_001324119.1:c.3853G>A, NG_021303.1:g.36399C>T, NW_021160017.1:g.3764115C>T, NP_055423.1:p.Ala1251Thr, NP_001274739.1:p.Ala1251Thr, NP_001311051.1:p.Ala691Thr, NP_001311052.1:p.Ala1251Thr, NP_001311053.1:p.Ala1221Thr, NP_001311055.1:p.Ala1217Thr, NP_001311054.1:p.Ala1129Thr, NP_001028200.1:p.Ala820Thr, NP_001311049.1:p.Ala1251Thr, NP_001311048.1:p.Ala1285Thr

Select item 147818983412.

rs1478189834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:22943192 (GRCh38)
15:22929876 (GRCh37)
Canonical SPDI:: NC_000015.10:22943191:C:T
Gene:: CYFIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.22943192C>T, NC_000015.9:g.22929876G>A, NG_054889.1:g.42715G>A, NM_014608.6:c.550G>A, NM_014608.5:c.550G>A, NM_014608.4:c.550G>A, NM_014608.3:c.550G>A, NM_014608.2:c.550G>A, NM_001287810.4:c.550G>A, NM_001287810.3:c.550G>A, NM_001287810.2:c.550G>A, NM_001287810.1:c.550G>A, NM_001324122.3:c.-1279G>A, NM_001324122.2:c.-1279G>A, NM_001324122.1:c.-1279G>A, NM_001324123.3:c.550G>A, NM_001324123.2:c.550G>A, NM_001324123.1:c.550G>A, NM_001324124.3:c.460G>A, NM_001324124.2:c.460G>A, NM_001324124.1:c.460G>A, NM_001324126.3:c.448G>A, NM_001324126.2:c.448G>A, NM_001324126.1:c.448G>A, NM_001324125.3:c.184G>A, NM_001324125.2:c.184G>A, NM_001324125.1:c.184G>A, NM_001324120.2:c.550G>A, NM_001324120.1:c.550G>A, NM_001324119.2:c.652G>A, NM_001324119.1:c.652G>A, NW_021160017.1:g.3837281C>T, NT_187603.1:g.40224C>T, NP_055423.1:p.Asp184Asn, NP_001274739.1:p.Asp184Asn, NP_001311052.1:p.Asp184Asn, NP_001311053.1:p.Asp154Asn, NP_001311055.1:p.Asp150Asn, NP_001311054.1:p.Asp62Asn, NP_001311049.1:p.Asp184Asn, NP_001311048.1:p.Asp218Asn

Select item 147808374513.

rs1478083745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:22903858 (GRCh38)
15:22969210 (GRCh37)
Canonical SPDI:: NC_000015.10:22903857:C:T
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.22903858C>T, NC_000015.9:g.22969210G>A, NG_054889.1:g.82049G>A, NM_014608.6:c.2436G>A, NM_014608.5:c.2436G>A, NM_014608.4:c.2436G>A, NM_014608.3:c.2436G>A, NM_014608.2:c.2436G>A, NM_001287810.4:c.2436G>A, NM_001287810.3:c.2436G>A, NM_001287810.2:c.2436G>A, NM_001287810.1:c.2436G>A, NM_001324122.3:c.756G>A, NM_001324122.2:c.756G>A, NM_001324122.1:c.756G>A, NM_001324123.3:c.2436G>A, NM_001324123.2:c.2436G>A, NM_001324123.1:c.2436G>A, NM_001324124.3:c.2346G>A, NM_001324124.2:c.2346G>A, NM_001324124.1:c.2346G>A, NM_001324126.3:c.2334G>A, NM_001324126.2:c.2334G>A, NM_001324126.1:c.2334G>A, NM_001324125.3:c.2070G>A, NM_001324125.2:c.2070G>A, NM_001324125.1:c.2070G>A, NM_001033028.3:c.1143G>A, NM_001033028.2:c.1143G>A, NM_001033028.1:c.1143G>A, NM_001324120.2:c.2436G>A, NM_001324120.1:c.2436G>A, NM_001324119.2:c.2538G>A, NM_001324119.1:c.2538G>A, NW_021160017.1:g.3797940C>T, NT_187603.1:g.898C>T

Select item 147694917014.

rs1476949170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22873716 (GRCh38)
15:22999352 (GRCh37)
Canonical SPDI:: NC_000015.10:22873715:G:A
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.22873716G>A, NC_000015.9:g.22999352C>T, NG_054889.1:g.112191C>T, NM_014608.6:c.3224C>T, NM_014608.5:c.3224C>T, NM_014608.4:c.3224C>T, NM_014608.3:c.3224C>T, NM_014608.2:c.3224C>T, NM_001287810.4:c.3224C>T, NM_001287810.3:c.3224C>T, NM_001287810.2:c.3224C>T, NM_001287810.1:c.3224C>T, NM_001324122.3:c.1544C>T, NM_001324122.2:c.1544C>T, NM_001324122.1:c.1544C>T, NM_001324123.3:c.3224C>T, NM_001324123.2:c.3224C>T, NM_001324123.1:c.3224C>T, NM_001324124.3:c.3134C>T, NM_001324124.2:c.3134C>T, NM_001324124.1:c.3134C>T, NM_001324126.3:c.3122C>T, NM_001324126.2:c.3122C>T, NM_001324126.1:c.3122C>T, NM_001324125.3:c.2858C>T, NM_001324125.2:c.2858C>T, NM_001324125.1:c.2858C>T, NM_001033028.3:c.1931C>T, NM_001033028.2:c.1931C>T, NM_001033028.1:c.1931C>T, NM_001324120.2:c.3224C>T, NM_001324120.1:c.3224C>T, NM_001324119.2:c.3326C>T, NM_001324119.1:c.3326C>T, NW_021160017.1:g.3767791G>A, NP_055423.1:p.Ala1075Val, NP_001274739.1:p.Ala1075Val, NP_001311051.1:p.Ala515Val, NP_001311052.1:p.Ala1075Val, NP_001311053.1:p.Ala1045Val, NP_001311055.1:p.Ala1041Val, NP_001311054.1:p.Ala953Val, NP_001028200.1:p.Ala644Val, NP_001311049.1:p.Ala1075Val, NP_001311048.1:p.Ala1109Val

Select item 147655430815.

rs1476554308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22873687 (GRCh38)
15:22999381 (GRCh37)
Canonical SPDI:: NC_000015.10:22873686:G:A
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22873687G>A, NC_000015.9:g.22999381C>T, NG_054889.1:g.112220C>T, NM_014608.6:c.3253C>T, NM_014608.5:c.3253C>T, NM_014608.4:c.3253C>T, NM_014608.3:c.3253C>T, NM_014608.2:c.3253C>T, NM_001287810.4:c.3253C>T, NM_001287810.3:c.3253C>T, NM_001287810.2:c.3253C>T, NM_001287810.1:c.3253C>T, NM_001324122.3:c.1573C>T, NM_001324122.2:c.1573C>T, NM_001324122.1:c.1573C>T, NM_001324123.3:c.3253C>T, NM_001324123.2:c.3253C>T, NM_001324123.1:c.3253C>T, NM_001324124.3:c.3163C>T, NM_001324124.2:c.3163C>T, NM_001324124.1:c.3163C>T, NM_001324126.3:c.3151C>T, NM_001324126.2:c.3151C>T, NM_001324126.1:c.3151C>T, NM_001324125.3:c.2887C>T, NM_001324125.2:c.2887C>T, NM_001324125.1:c.2887C>T, NM_001033028.3:c.1960C>T, NM_001033028.2:c.1960C>T, NM_001033028.1:c.1960C>T, NM_001324120.2:c.3253C>T, NM_001324120.1:c.3253C>T, NM_001324119.2:c.3355C>T, NM_001324119.1:c.3355C>T, NW_021160017.1:g.3767762G>A, NP_055423.1:p.Arg1085Cys, NP_001274739.1:p.Arg1085Cys, NP_001311051.1:p.Arg525Cys, NP_001311052.1:p.Arg1085Cys, NP_001311053.1:p.Arg1055Cys, NP_001311055.1:p.Arg1051Cys, NP_001311054.1:p.Arg963Cys, NP_001028200.1:p.Arg654Cys, NP_001311049.1:p.Arg1085Cys, NP_001311048.1:p.Arg1119Cys

Select item 147578261916.

rs1475782619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:22939207 (GRCh38)
15:22933861 (GRCh37)
Canonical SPDI:: NC_000015.10:22939206:T:C
Gene:: CYFIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.22939207T>C, NC_000015.9:g.22933861A>G, NG_054889.1:g.46700A>G, NM_014608.6:c.780A>G, NM_014608.5:c.780A>G, NM_014608.4:c.780A>G, NM_014608.3:c.780A>G, NM_014608.2:c.780A>G, NM_001287810.4:c.780A>G, NM_001287810.3:c.780A>G, NM_001287810.2:c.780A>G, NM_001287810.1:c.780A>G, NM_001324122.3:c.-1049A>G, NM_001324122.2:c.-1049A>G, NM_001324122.1:c.-1049A>G, NM_001324123.3:c.780A>G, NM_001324123.2:c.780A>G, NM_001324123.1:c.780A>G, NM_001324124.3:c.690A>G, NM_001324124.2:c.690A>G, NM_001324124.1:c.690A>G, NM_001324126.3:c.678A>G, NM_001324126.2:c.678A>G, NM_001324126.1:c.678A>G, NM_001324125.3:c.414A>G, NM_001324125.2:c.414A>G, NM_001324125.1:c.414A>G, NM_001324120.2:c.780A>G, NM_001324120.1:c.780A>G, NM_001324119.2:c.882A>G, NM_001324119.1:c.882A>G, NW_021160017.1:g.3833295T>C, NT_187603.1:g.36236T>C

Select item 147508271917.

rs1475082719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:22916624 (GRCh38)
15:22956444 (GRCh37)
Canonical SPDI:: NC_000015.10:22916623:T:C
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00003/1 (ALFA)
HGVS:: NC_000015.10:g.22916624T>C, NC_000015.9:g.22956444A>G, NG_054889.1:g.69283A>G, NM_014608.6:c.1681A>G, NM_014608.5:c.1681A>G, NM_014608.4:c.1681A>G, NM_014608.3:c.1681A>G, NM_014608.2:c.1681A>G, NM_001287810.4:c.1681A>G, NM_001287810.3:c.1681A>G, NM_001287810.2:c.1681A>G, NM_001287810.1:c.1681A>G, NM_001324122.3:c.1A>G, NM_001324122.2:c.1A>G, NM_001324122.1:c.1A>G, NM_001324123.3:c.1681A>G, NM_001324123.2:c.1681A>G, NM_001324123.1:c.1681A>G, NM_001324124.3:c.1591A>G, NM_001324124.2:c.1591A>G, NM_001324124.1:c.1591A>G, NM_001324126.3:c.1579A>G, NM_001324126.2:c.1579A>G, NM_001324126.1:c.1579A>G, NM_001324125.3:c.1315A>G, NM_001324125.2:c.1315A>G, NM_001324125.1:c.1315A>G, NM_001033028.3:c.388A>G, NM_001033028.2:c.388A>G, NM_001033028.1:c.388A>G, NM_001324120.2:c.1681A>G, NM_001324120.1:c.1681A>G, NM_001324119.2:c.1783A>G, NM_001324119.1:c.1783A>G, NW_021160017.1:g.3810708T>C, NT_187603.1:g.13664T>C, NP_055423.1:p.Met561Val, NP_001274739.1:p.Met561Val, NP_001311051.1:p.Met1Val, NP_001311052.1:p.Met561Val, NP_001311053.1:p.Met531Val, NP_001311055.1:p.Met527Val, NP_001311054.1:p.Met439Val, NP_001028200.1:p.Met130Val, NP_001311049.1:p.Met561Val, NP_001311048.1:p.Met595Val

Select item 147457712418.

rs1474577124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22903837 (GRCh38)
15:22969231 (GRCh37)
Canonical SPDI:: NC_000015.10:22903836:G:A
Gene:: CYFIP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.22903837G>A, NC_000015.9:g.22969231C>T, NG_054889.1:g.82070C>T, NM_014608.6:c.2457C>T, NM_014608.5:c.2457C>T, NM_014608.4:c.2457C>T, NM_014608.3:c.2457C>T, NM_014608.2:c.2457C>T, NM_001287810.4:c.2457C>T, NM_001287810.3:c.2457C>T, NM_001287810.2:c.2457C>T, NM_001287810.1:c.2457C>T, NM_001324122.3:c.777C>T, NM_001324122.2:c.777C>T, NM_001324122.1:c.777C>T, NM_001324123.3:c.2457C>T, NM_001324123.2:c.2457C>T, NM_001324123.1:c.2457C>T, NM_001324124.3:c.2367C>T, NM_001324124.2:c.2367C>T, NM_001324124.1:c.2367C>T, NM_001324126.3:c.2355C>T, NM_001324126.2:c.2355C>T, NM_001324126.1:c.2355C>T, NM_001324125.3:c.2091C>T, NM_001324125.2:c.2091C>T, NM_001324125.1:c.2091C>T, NM_001033028.3:c.1164C>T, NM_001033028.2:c.1164C>T, NM_001033028.1:c.1164C>T, NM_001324120.2:c.2457C>T, NM_001324120.1:c.2457C>T, NM_001324119.2:c.2559C>T, NM_001324119.1:c.2559C>T, NW_021160017.1:g.3797919G>A, NT_187603.1:g.877G>A

Select item 147314921519.

rs1473149215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:22933815 (GRCh38)
15:22939253 (GRCh37)
Canonical SPDI:: NC_000015.10:22933814:C:G
Gene:: CYFIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.22933815C>G, NC_000015.9:g.22939253G>C, NG_054889.1:g.52092G>C, NM_014608.6:c.979G>C, NM_014608.5:c.979G>C, NM_014608.4:c.979G>C, NM_014608.3:c.979G>C, NM_014608.2:c.979G>C, NM_001287810.4:c.979G>C, NM_001287810.3:c.979G>C, NM_001287810.2:c.979G>C, NM_001287810.1:c.979G>C, NM_001324122.3:c.-850G>C, NM_001324122.2:c.-850G>C, NM_001324122.1:c.-850G>C, NM_001324123.3:c.979G>C, NM_001324123.2:c.979G>C, NM_001324123.1:c.979G>C, NM_001324124.3:c.889G>C, NM_001324124.2:c.889G>C, NM_001324124.1:c.889G>C, NM_001324126.3:c.877G>C, NM_001324126.2:c.877G>C, NM_001324126.1:c.877G>C, NM_001324125.3:c.613G>C, NM_001324125.2:c.613G>C, NM_001324125.1:c.613G>C, NM_001324120.2:c.979G>C, NM_001324120.1:c.979G>C, NM_001324119.2:c.1081G>C, NM_001324119.1:c.1081G>C, NW_021160017.1:g.3827900C>G, NT_187603.1:g.30843C>G, NP_055423.1:p.Glu327Gln, NP_001274739.1:p.Glu327Gln, NP_001311052.1:p.Glu327Gln, NP_001311053.1:p.Glu297Gln, NP_001311055.1:p.Glu293Gln, NP_001311054.1:p.Glu205Gln, NP_001311049.1:p.Glu327Gln, NP_001311048.1:p.Glu361Gln

Select item 147285530420.

rs1472855304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:22926027 (GRCh38)
15:22947041 (GRCh37)
Canonical SPDI:: NC_000015.10:22926026:G:C
Gene:: CYFIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.22926027G>C, NC_000015.9:g.22947041C>G, NG_054889.1:g.59880C>G, NM_014608.6:c.1314C>G, NM_014608.5:c.1314C>G, NM_014608.4:c.1314C>G, NM_014608.3:c.1314C>G, NM_014608.2:c.1314C>G, NM_001287810.4:c.1314C>G, NM_001287810.3:c.1314C>G, NM_001287810.2:c.1314C>G, NM_001287810.1:c.1314C>G, NM_001324122.3:c.-515C>G, NM_001324122.2:c.-515C>G, NM_001324122.1:c.-515C>G, NM_001324123.3:c.1314C>G, NM_001324123.2:c.1314C>G, NM_001324123.1:c.1314C>G, NM_001324124.3:c.1224C>G, NM_001324124.2:c.1224C>G, NM_001324124.1:c.1224C>G, NM_001324126.3:c.1212C>G, NM_001324126.2:c.1212C>G, NM_001324126.1:c.1212C>G, NM_001324125.3:c.948C>G, NM_001324125.2:c.948C>G, NM_001324125.1:c.948C>G, NM_001324120.2:c.1314C>G, NM_001324120.1:c.1314C>G, NM_001324119.2:c.1416C>G, NM_001324119.1:c.1416C>G, NW_021160017.1:g.3820112G>C, NT_187603.1:g.23065G>C

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