SNP Links for Protein (Select 1100832916) - SNP

Links from Protein

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Select item 14909238131.

rs1490923813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55201332 (GRCh38)
7:55269025 (GRCh37)
Canonical SPDI:: NC_000007.14:55201331:C:A,NC_000007.14:55201331:C:G,NC_000007.14:55201331:C:T
Gene:: EGFR (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.55201332C>A, NC_000007.14:g.55201332C>G, NC_000007.14:g.55201332C>T, NC_000007.13:g.55269025C>A, NC_000007.13:g.55269025C>G, NC_000007.13:g.55269025C>T, NG_007726.3:g.187301C>A, NG_007726.3:g.187301C>G, NG_007726.3:g.187301C>T, NM_005228.5:c.3091C>A, NM_005228.5:c.3091C>G, NM_005228.5:c.3091C>T, NM_005228.4:c.3091C>A, NM_005228.4:c.3091C>G, NM_005228.4:c.3091C>T, NM_005228.3:c.3091C>A, NM_005228.3:c.3091C>G, NM_005228.3:c.3091C>T, NM_001346899.2:c.2956C>A, NM_001346899.2:c.2956C>G, NM_001346899.2:c.2956C>T, NM_001346899.1:c.2956C>A, NM_001346899.1:c.2956C>G, NM_001346899.1:c.2956C>T, NM_001346900.2:c.2932C>A, NM_001346900.2:c.2932C>G, NM_001346900.2:c.2932C>T, NM_001346900.1:c.2932C>A, NM_001346900.1:c.2932C>G, NM_001346900.1:c.2932C>T, NM_001346941.2:c.2290C>A, NM_001346941.2:c.2290C>G, NM_001346941.2:c.2290C>T, NM_001346941.1:c.2290C>A, NM_001346941.1:c.2290C>G, NM_001346941.1:c.2290C>T, NM_001346898.2:c.3091C>A, NM_001346898.2:c.3091C>G, NM_001346898.2:c.3091C>T, NM_001346898.1:c.3091C>A, NM_001346898.1:c.3091C>G, NM_001346898.1:c.3091C>T, NM_001346897.2:c.2956C>A, NM_001346897.2:c.2956C>G, NM_001346897.2:c.2956C>T, NM_001346897.1:c.2956C>A, NM_001346897.1:c.2956C>G, NM_001346897.1:c.2956C>T, XM_047419952.1:c.2932C>A, XM_047419952.1:c.2932C>G, XM_047419952.1:c.2932C>T, XM_047419953.1:c.2932C>A, XM_047419953.1:c.2932C>G, XM_047419953.1:c.2932C>T, NP_005219.2:p.Arg1031Gly, NP_005219.2:p.Arg1031Trp, NP_001333828.1:p.Arg986Gly, NP_001333828.1:p.Arg986Trp, NP_001333829.1:p.Arg978Gly, NP_001333829.1:p.Arg978Trp, NP_001333870.1:p.Arg764Gly, NP_001333870.1:p.Arg764Trp, NP_001333827.1:p.Arg1031Gly, NP_001333827.1:p.Arg1031Trp, NP_001333826.1:p.Arg986Gly, NP_001333826.1:p.Arg986Trp, XP_047275908.1:p.Arg978Gly, XP_047275908.1:p.Arg978Trp, XP_047275909.1:p.Arg978Gly, XP_047275909.1:p.Arg978Trp

Select item 14905924452.

rs1490592445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:55154079 (GRCh38)
7:55221772 (GRCh37)
Canonical SPDI:: NC_000007.14:55154078:C:T
Gene:: EGFR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.55154079C>T, NC_000007.13:g.55221772C>T, NG_007726.3:g.140048C>T, NM_005228.5:c.816C>T, NM_005228.4:c.816C>T, NM_005228.3:c.816C>T, NM_001346899.2:c.681C>T, NM_001346899.1:c.681C>T, NM_001346900.2:c.657C>T, NM_001346900.1:c.657C>T, NM_001346898.2:c.816C>T, NM_001346898.1:c.816C>T, NM_001346897.2:c.681C>T, NM_001346897.1:c.681C>T, NM_201284.2:c.816C>T, NM_201284.1:c.816C>T, NM_201282.2:c.816C>T, NM_201282.1:c.816C>T, NM_201283.2:c.816C>T, NM_201283.1:c.816C>T, XM_047419952.1:c.657C>T, XM_047419953.1:c.657C>T

Select item 14903155773.

rs1490315577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:55152547 (GRCh38)
7:55220240 (GRCh37)
Canonical SPDI:: NC_000007.14:55152546:G:A,NC_000007.14:55152546:G:C
Gene:: EGFR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.55152547G>A, NC_000007.14:g.55152547G>C, NC_000007.13:g.55220240G>A, NC_000007.13:g.55220240G>C, NG_007726.3:g.138516G>A, NG_007726.3:g.138516G>C, NM_005228.5:c.630G>A, NM_005228.5:c.630G>C, NM_005228.4:c.630G>A, NM_005228.4:c.630G>C, NM_005228.3:c.630G>A, NM_005228.3:c.630G>C, NM_001346899.2:c.495G>A, NM_001346899.2:c.495G>C, NM_001346899.1:c.495G>A, NM_001346899.1:c.495G>C, NM_001346900.2:c.471G>A, NM_001346900.2:c.471G>C, NM_001346900.1:c.471G>A, NM_001346900.1:c.471G>C, NM_001346898.2:c.630G>A, NM_001346898.2:c.630G>C, NM_001346898.1:c.630G>A, NM_001346898.1:c.630G>C, NM_001346897.2:c.495G>A, NM_001346897.2:c.495G>C, NM_001346897.1:c.495G>A, NM_001346897.1:c.495G>C, NM_201284.2:c.630G>A, NM_201284.2:c.630G>C, NM_201284.1:c.630G>A, NM_201284.1:c.630G>C, NM_201282.2:c.630G>A, NM_201282.2:c.630G>C, NM_201282.1:c.630G>A, NM_201282.1:c.630G>C, NM_201283.2:c.630G>A, NM_201283.2:c.630G>C, NM_201283.1:c.630G>A, NM_201283.1:c.630G>C, XM_047419952.1:c.471G>A, XM_047419952.1:c.471G>C, XM_047419953.1:c.471G>A, XM_047419953.1:c.471G>C

Select item 14891580554.

rs1489158055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:55191734 (GRCh38)
7:55259427 (GRCh37)
Canonical SPDI:: NC_000007.14:55191733:G:A,NC_000007.14:55191733:G:C,NC_000007.14:55191733:G:T
Gene:: EGFR (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.55191734G>A, NC_000007.14:g.55191734G>C, NC_000007.14:g.55191734G>T, NC_000007.13:g.55259427G>A, NC_000007.13:g.55259427G>C, NC_000007.13:g.55259427G>T, NG_007726.3:g.177703G>A, NG_007726.3:g.177703G>C, NG_007726.3:g.177703G>T, NM_005228.5:c.2485G>A, NM_005228.5:c.2485G>C, NM_005228.5:c.2485G>T, NM_005228.4:c.2485G>A, NM_005228.4:c.2485G>C, NM_005228.4:c.2485G>T, NM_005228.3:c.2485G>A, NM_005228.3:c.2485G>C, NM_005228.3:c.2485G>T, NM_001346899.2:c.2350G>A, NM_001346899.2:c.2350G>C, NM_001346899.2:c.2350G>T, NM_001346899.1:c.2350G>A, NM_001346899.1:c.2350G>C, NM_001346899.1:c.2350G>T, NM_001346900.2:c.2326G>A, NM_001346900.2:c.2326G>C, NM_001346900.2:c.2326G>T, NM_001346900.1:c.2326G>A, NM_001346900.1:c.2326G>C, NM_001346900.1:c.2326G>T, NM_001346941.2:c.1684G>A, NM_001346941.2:c.1684G>C, NM_001346941.2:c.1684G>T, NM_001346941.1:c.1684G>A, NM_001346941.1:c.1684G>C, NM_001346941.1:c.1684G>T, NM_001346898.2:c.2485G>A, NM_001346898.2:c.2485G>C, NM_001346898.2:c.2485G>T, NM_001346898.1:c.2485G>A, NM_001346898.1:c.2485G>C, NM_001346898.1:c.2485G>T, NM_001346897.2:c.2350G>A, NM_001346897.2:c.2350G>C, NM_001346897.2:c.2350G>T, NM_001346897.1:c.2350G>A, NM_001346897.1:c.2350G>C, NM_001346897.1:c.2350G>T, XM_047419952.1:c.2326G>A, XM_047419952.1:c.2326G>C, XM_047419952.1:c.2326G>T, XM_047419953.1:c.2326G>A, XM_047419953.1:c.2326G>C, XM_047419953.1:c.2326G>T, NP_005219.2:p.Glu829Lys, NP_005219.2:p.Glu829Gln, NP_005219.2:p.Glu829Ter, NP_001333828.1:p.Glu784Lys, NP_001333828.1:p.Glu784Gln, NP_001333828.1:p.Glu784Ter, NP_001333829.1:p.Glu776Lys, NP_001333829.1:p.Glu776Gln, NP_001333829.1:p.Glu776Ter, NP_001333870.1:p.Glu562Lys, NP_001333870.1:p.Glu562Gln, NP_001333870.1:p.Glu562Ter, NP_001333827.1:p.Glu829Lys, NP_001333827.1:p.Glu829Gln, NP_001333827.1:p.Glu829Ter, NP_001333826.1:p.Glu784Lys, NP_001333826.1:p.Glu784Gln, NP_001333826.1:p.Glu784Ter, XP_047275908.1:p.Glu776Lys, XP_047275908.1:p.Glu776Gln, XP_047275908.1:p.Glu776Ter, XP_047275909.1:p.Glu776Lys, XP_047275909.1:p.Glu776Gln, XP_047275909.1:p.Glu776Ter

Select item 14888434325.

rs1488843432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:55143397 (GRCh38)
7:55211090 (GRCh37)
Canonical SPDI:: NC_000007.14:55143396:G:A,NC_000007.14:55143396:G:C
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.55143397G>A, NC_000007.14:g.55143397G>C, NC_000007.13:g.55211090G>A, NC_000007.13:g.55211090G>C, NG_007726.3:g.129366G>A, NG_007726.3:g.129366G>C, NM_005228.5:c.333G>A, NM_005228.5:c.333G>C, NM_005228.4:c.333G>A, NM_005228.4:c.333G>C, NM_005228.3:c.333G>A, NM_005228.3:c.333G>C, NM_001346899.2:c.333G>A, NM_001346899.2:c.333G>C, NM_001346899.1:c.333G>A, NM_001346899.1:c.333G>C, NM_001346900.2:c.174G>A, NM_001346900.2:c.174G>C, NM_001346900.1:c.174G>A, NM_001346900.1:c.174G>C, NM_001346898.2:c.333G>A, NM_001346898.2:c.333G>C, NM_001346898.1:c.333G>A, NM_001346898.1:c.333G>C, NM_001346897.2:c.333G>A, NM_001346897.2:c.333G>C, NM_001346897.1:c.333G>A, NM_001346897.1:c.333G>C, NM_201284.2:c.333G>A, NM_201284.2:c.333G>C, NM_201284.1:c.333G>A, NM_201284.1:c.333G>C, NM_201282.2:c.333G>A, NM_201282.2:c.333G>C, NM_201282.1:c.333G>A, NM_201282.1:c.333G>C, NM_201283.2:c.333G>A, NM_201283.2:c.333G>C, NM_201283.1:c.333G>A, NM_201283.1:c.333G>C, XM_047419952.1:c.174G>A, XM_047419952.1:c.174G>C, XM_047419953.1:c.174G>A, XM_047419953.1:c.174G>C, NP_005219.2:p.Met111Ile, NP_005219.2:p.Met111Ile, NP_001333828.1:p.Met111Ile, NP_001333828.1:p.Met111Ile, NP_001333829.1:p.Met58Ile, NP_001333829.1:p.Met58Ile, NP_001333827.1:p.Met111Ile, NP_001333827.1:p.Met111Ile, NP_001333826.1:p.Met111Ile, NP_001333826.1:p.Met111Ile, NP_958441.1:p.Met111Ile, NP_958441.1:p.Met111Ile, NP_958439.1:p.Met111Ile, NP_958439.1:p.Met111Ile, NP_958440.1:p.Met111Ile, NP_958440.1:p.Met111Ile, XP_047275908.1:p.Met58Ile, XP_047275908.1:p.Met58Ile, XP_047275909.1:p.Met58Ile, XP_047275909.1:p.Met58Ile

Select item 14887690736.

rs1488769073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:55019331 (GRCh38)
7:55087024 (GRCh37)
Canonical SPDI:: NC_000007.14:55019330:C:G,NC_000007.14:55019330:C:T
Gene:: EGFR (Varview), LOC105375284 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55019331C>G, NC_000007.14:g.55019331C>T, NC_000007.13:g.55087024C>G, NC_000007.13:g.55087024C>T, NG_007726.3:g.5300C>G, NG_007726.3:g.5300C>T, NM_005228.5:c.54C>G, NM_005228.5:c.54C>T, NM_005228.4:c.54C>G, NM_005228.4:c.54C>T, NM_005228.3:c.54C>G, NM_005228.3:c.54C>T, NM_001346899.2:c.54C>G, NM_001346899.2:c.54C>T, NM_001346899.1:c.54C>G, NM_001346899.1:c.54C>T, NM_001346941.2:c.54C>G, NM_001346941.2:c.54C>T, NM_001346941.1:c.54C>G, NM_001346941.1:c.54C>T, NM_001346898.2:c.54C>G, NM_001346898.2:c.54C>T, NM_001346898.1:c.54C>G, NM_001346898.1:c.54C>T, NM_001346897.2:c.54C>G, NM_001346897.2:c.54C>T, NM_001346897.1:c.54C>G, NM_001346897.1:c.54C>T, NM_201284.2:c.54C>G, NM_201284.2:c.54C>T, NM_201284.1:c.54C>G, NM_201284.1:c.54C>T, NM_201282.2:c.54C>G, NM_201282.2:c.54C>T, NM_201282.1:c.54C>G, NM_201282.1:c.54C>T, NM_201283.2:c.54C>G, NM_201283.2:c.54C>T, NM_201283.1:c.54C>G, NM_201283.1:c.54C>T

Select item 14887351287.

rs1488735128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:55174750 (GRCh38)
7:55242443 (GRCh37)
Canonical SPDI:: NC_000007.14:55174749:T:A,NC_000007.14:55174749:T:C,NC_000007.14:55174749:T:G
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55174750T>A, NC_000007.14:g.55174750T>C, NC_000007.14:g.55174750T>G, NC_000007.13:g.55242443T>A, NC_000007.13:g.55242443T>C, NC_000007.13:g.55242443T>G, NG_007726.3:g.160719T>A, NG_007726.3:g.160719T>C, NG_007726.3:g.160719T>G, NM_005228.5:c.2213T>A, NM_005228.5:c.2213T>C, NM_005228.5:c.2213T>G, NM_005228.4:c.2213T>A, NM_005228.4:c.2213T>C, NM_005228.4:c.2213T>G, NM_005228.3:c.2213T>A, NM_005228.3:c.2213T>C, NM_005228.3:c.2213T>G, NM_001346899.2:c.2078T>A, NM_001346899.2:c.2078T>C, NM_001346899.2:c.2078T>G, NM_001346899.1:c.2078T>A, NM_001346899.1:c.2078T>C, NM_001346899.1:c.2078T>G, NM_001346900.2:c.2054T>A, NM_001346900.2:c.2054T>C, NM_001346900.2:c.2054T>G, NM_001346900.1:c.2054T>A, NM_001346900.1:c.2054T>C, NM_001346900.1:c.2054T>G, NM_001346941.2:c.1412T>A, NM_001346941.2:c.1412T>C, NM_001346941.2:c.1412T>G, NM_001346941.1:c.1412T>A, NM_001346941.1:c.1412T>C, NM_001346941.1:c.1412T>G, NM_001346898.2:c.2213T>A, NM_001346898.2:c.2213T>C, NM_001346898.2:c.2213T>G, NM_001346898.1:c.2213T>A, NM_001346898.1:c.2213T>C, NM_001346898.1:c.2213T>G, NM_001346897.2:c.2078T>A, NM_001346897.2:c.2078T>C, NM_001346897.2:c.2078T>G, NM_001346897.1:c.2078T>A, NM_001346897.1:c.2078T>C, NM_001346897.1:c.2078T>G, XM_047419952.1:c.2054T>A, XM_047419952.1:c.2054T>C, XM_047419952.1:c.2054T>G, XM_047419953.1:c.2054T>A, XM_047419953.1:c.2054T>C, XM_047419953.1:c.2054T>G, NP_005219.2:p.Val738Asp, NP_005219.2:p.Val738Ala, NP_005219.2:p.Val738Gly, NP_001333828.1:p.Val693Asp, NP_001333828.1:p.Val693Ala, NP_001333828.1:p.Val693Gly, NP_001333829.1:p.Val685Asp, NP_001333829.1:p.Val685Ala, NP_001333829.1:p.Val685Gly, NP_001333870.1:p.Val471Asp, NP_001333870.1:p.Val471Ala, NP_001333870.1:p.Val471Gly, NP_001333827.1:p.Val738Asp, NP_001333827.1:p.Val738Ala, NP_001333827.1:p.Val738Gly, NP_001333826.1:p.Val693Asp, NP_001333826.1:p.Val693Ala, NP_001333826.1:p.Val693Gly, XP_047275908.1:p.Val685Asp, XP_047275908.1:p.Val685Ala, XP_047275908.1:p.Val685Gly, XP_047275909.1:p.Val685Asp, XP_047275909.1:p.Val685Ala, XP_047275909.1:p.Val685Gly

Select item 14886956038.

rs1488695603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:55163770 (GRCh38)
7:55231463 (GRCh37)
Canonical SPDI:: NC_000007.14:55163769:C:T
Gene:: EGFR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55163770C>T, NC_000007.13:g.55231463C>T, NG_007726.3:g.149739C>T, NM_005228.5:c.1669C>T, NM_005228.4:c.1669C>T, NM_005228.3:c.1669C>T, NM_001346899.2:c.1534C>T, NM_001346899.1:c.1534C>T, NM_001346900.2:c.1510C>T, NM_001346900.1:c.1510C>T, NM_001346941.2:c.868C>T, NM_001346941.1:c.868C>T, NM_001346898.2:c.1669C>T, NM_001346898.1:c.1669C>T, NM_001346897.2:c.1534C>T, NM_001346897.1:c.1534C>T, NM_201284.2:c.1669C>T, NM_201284.1:c.1669C>T, NM_201282.2:c.1669C>T, NM_201282.1:c.1669C>T, XM_047419952.1:c.1510C>T, XM_047419953.1:c.1510C>T, NP_005219.2:p.Gln557Ter, NP_001333828.1:p.Gln512Ter, NP_001333829.1:p.Gln504Ter, NP_001333870.1:p.Gln290Ter, NP_001333827.1:p.Gln557Ter, NP_001333826.1:p.Gln512Ter, NP_958441.1:p.Gln557Ter, NP_958439.1:p.Gln557Ter, XP_047275908.1:p.Gln504Ter, XP_047275909.1:p.Gln504Ter

Select item 14877389289.

rs1487738928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:55201264 (GRCh38)
7:55268957 (GRCh37)
Canonical SPDI:: NC_000007.14:55201263:A:C,NC_000007.14:55201263:A:G,NC_000007.14:55201263:A:T
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55201264A>C, NC_000007.14:g.55201264A>G, NC_000007.14:g.55201264A>T, NC_000007.13:g.55268957A>C, NC_000007.13:g.55268957A>G, NC_000007.13:g.55268957A>T, NG_007726.3:g.187233A>C, NG_007726.3:g.187233A>G, NG_007726.3:g.187233A>T, NM_005228.5:c.3023A>C, NM_005228.5:c.3023A>G, NM_005228.5:c.3023A>T, NM_005228.4:c.3023A>C, NM_005228.4:c.3023A>G, NM_005228.4:c.3023A>T, NM_005228.3:c.3023A>C, NM_005228.3:c.3023A>G, NM_005228.3:c.3023A>T, NM_001346899.2:c.2888A>C, NM_001346899.2:c.2888A>G, NM_001346899.2:c.2888A>T, NM_001346899.1:c.2888A>C, NM_001346899.1:c.2888A>G, NM_001346899.1:c.2888A>T, NM_001346900.2:c.2864A>C, NM_001346900.2:c.2864A>G, NM_001346900.2:c.2864A>T, NM_001346900.1:c.2864A>C, NM_001346900.1:c.2864A>G, NM_001346900.1:c.2864A>T, NM_001346941.2:c.2222A>C, NM_001346941.2:c.2222A>G, NM_001346941.2:c.2222A>T, NM_001346941.1:c.2222A>C, NM_001346941.1:c.2222A>G, NM_001346941.1:c.2222A>T, NM_001346898.2:c.3023A>C, NM_001346898.2:c.3023A>G, NM_001346898.2:c.3023A>T, NM_001346898.1:c.3023A>C, NM_001346898.1:c.3023A>G, NM_001346898.1:c.3023A>T, NM_001346897.2:c.2888A>C, NM_001346897.2:c.2888A>G, NM_001346897.2:c.2888A>T, NM_001346897.1:c.2888A>C, NM_001346897.1:c.2888A>G, NM_001346897.1:c.2888A>T, XM_047419952.1:c.2864A>C, XM_047419952.1:c.2864A>G, XM_047419952.1:c.2864A>T, XM_047419953.1:c.2864A>C, XM_047419953.1:c.2864A>G, XM_047419953.1:c.2864A>T, NP_005219.2:p.Asp1008Ala, NP_005219.2:p.Asp1008Gly, NP_005219.2:p.Asp1008Val, NP_001333828.1:p.Asp963Ala, NP_001333828.1:p.Asp963Gly, NP_001333828.1:p.Asp963Val, NP_001333829.1:p.Asp955Ala, NP_001333829.1:p.Asp955Gly, NP_001333829.1:p.Asp955Val, NP_001333870.1:p.Asp741Ala, NP_001333870.1:p.Asp741Gly, NP_001333870.1:p.Asp741Val, NP_001333827.1:p.Asp1008Ala, NP_001333827.1:p.Asp1008Gly, NP_001333827.1:p.Asp1008Val, NP_001333826.1:p.Asp963Ala, NP_001333826.1:p.Asp963Gly, NP_001333826.1:p.Asp963Val, XP_047275908.1:p.Asp955Ala, XP_047275908.1:p.Asp955Gly, XP_047275908.1:p.Asp955Val, XP_047275909.1:p.Asp955Ala, XP_047275909.1:p.Asp955Gly, XP_047275909.1:p.Asp955Val

Select item 148719314010.

rs1487193140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55181346 (GRCh38)
7:55249039 (GRCh37)
Canonical SPDI:: NC_000007.14:55181345:C:A,NC_000007.14:55181345:C:G,NC_000007.14:55181345:C:T
Gene:: EGFR (Varview), EGFR-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55181346C>A, NC_000007.14:g.55181346C>G, NC_000007.14:g.55181346C>T, NC_000007.13:g.55249039C>A, NC_000007.13:g.55249039C>G, NC_000007.13:g.55249039C>T, NG_007726.3:g.167315C>A, NG_007726.3:g.167315C>G, NG_007726.3:g.167315C>T, NM_005228.5:c.2337C>A, NM_005228.5:c.2337C>G, NM_005228.5:c.2337C>T, NM_005228.4:c.2337C>A, NM_005228.4:c.2337C>G, NM_005228.4:c.2337C>T, NM_005228.3:c.2337C>A, NM_005228.3:c.2337C>G, NM_005228.3:c.2337C>T, NM_001346899.2:c.2202C>A, NM_001346899.2:c.2202C>G, NM_001346899.2:c.2202C>T, NM_001346899.1:c.2202C>A, NM_001346899.1:c.2202C>G, NM_001346899.1:c.2202C>T, NM_001346900.2:c.2178C>A, NM_001346900.2:c.2178C>G, NM_001346900.2:c.2178C>T, NM_001346900.1:c.2178C>A, NM_001346900.1:c.2178C>G, NM_001346900.1:c.2178C>T, NM_001346941.2:c.1536C>A, NM_001346941.2:c.1536C>G, NM_001346941.2:c.1536C>T, NM_001346941.1:c.1536C>A, NM_001346941.1:c.1536C>G, NM_001346941.1:c.1536C>T, NM_001346898.2:c.2337C>A, NM_001346898.2:c.2337C>G, NM_001346898.2:c.2337C>T, NM_001346898.1:c.2337C>A, NM_001346898.1:c.2337C>G, NM_001346898.1:c.2337C>T, NM_001346897.2:c.2202C>A, NM_001346897.2:c.2202C>G, NM_001346897.2:c.2202C>T, NM_001346897.1:c.2202C>A, NM_001346897.1:c.2202C>G, NM_001346897.1:c.2202C>T, XM_047419952.1:c.2178C>A, XM_047419952.1:c.2178C>G, XM_047419952.1:c.2178C>T, XM_047419953.1:c.2178C>A, XM_047419953.1:c.2178C>G, XM_047419953.1:c.2178C>T, NR_047551.1:n.1225G>T, NR_047551.1:n.1225G>C, NR_047551.1:n.1225G>A

Select item 148680440711.

rs1486804407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55200393 (GRCh38)
7:55268086 (GRCh37)
Canonical SPDI:: NC_000007.14:55200392:C:A,NC_000007.14:55200392:C:G,NC_000007.14:55200392:C:T
Gene:: EGFR (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55200393C>A, NC_000007.14:g.55200393C>G, NC_000007.14:g.55200393C>T, NC_000007.13:g.55268086C>A, NC_000007.13:g.55268086C>G, NC_000007.13:g.55268086C>T, NG_007726.3:g.186362C>A, NG_007726.3:g.186362C>G, NG_007726.3:g.186362C>T, NM_005228.5:c.2926C>A, NM_005228.5:c.2926C>G, NM_005228.5:c.2926C>T, NM_005228.4:c.2926C>A, NM_005228.4:c.2926C>G, NM_005228.4:c.2926C>T, NM_005228.3:c.2926C>A, NM_005228.3:c.2926C>G, NM_005228.3:c.2926C>T, NM_001346899.2:c.2791C>A, NM_001346899.2:c.2791C>G, NM_001346899.2:c.2791C>T, NM_001346899.1:c.2791C>A, NM_001346899.1:c.2791C>G, NM_001346899.1:c.2791C>T, NM_001346900.2:c.2767C>A, NM_001346900.2:c.2767C>G, NM_001346900.2:c.2767C>T, NM_001346900.1:c.2767C>A, NM_001346900.1:c.2767C>G, NM_001346900.1:c.2767C>T, NM_001346941.2:c.2125C>A, NM_001346941.2:c.2125C>G, NM_001346941.2:c.2125C>T, NM_001346941.1:c.2125C>A, NM_001346941.1:c.2125C>G, NM_001346941.1:c.2125C>T, NM_001346898.2:c.2926C>A, NM_001346898.2:c.2926C>G, NM_001346898.2:c.2926C>T, NM_001346898.1:c.2926C>A, NM_001346898.1:c.2926C>G, NM_001346898.1:c.2926C>T, NM_001346897.2:c.2791C>A, NM_001346897.2:c.2791C>G, NM_001346897.2:c.2791C>T, NM_001346897.1:c.2791C>A, NM_001346897.1:c.2791C>G, NM_001346897.1:c.2791C>T, XM_047419952.1:c.2767C>A, XM_047419952.1:c.2767C>G, XM_047419952.1:c.2767C>T, XM_047419953.1:c.2767C>A, XM_047419953.1:c.2767C>G, XM_047419953.1:c.2767C>T, NP_005219.2:p.Gln976Lys, NP_005219.2:p.Gln976Glu, NP_005219.2:p.Gln976Ter, NP_001333828.1:p.Gln931Lys, NP_001333828.1:p.Gln931Glu, NP_001333828.1:p.Gln931Ter, NP_001333829.1:p.Gln923Lys, NP_001333829.1:p.Gln923Glu, NP_001333829.1:p.Gln923Ter, NP_001333870.1:p.Gln709Lys, NP_001333870.1:p.Gln709Glu, NP_001333870.1:p.Gln709Ter, NP_001333827.1:p.Gln976Lys, NP_001333827.1:p.Gln976Glu, NP_001333827.1:p.Gln976Ter, NP_001333826.1:p.Gln931Lys, NP_001333826.1:p.Gln931Glu, NP_001333826.1:p.Gln931Ter, XP_047275908.1:p.Gln923Lys, XP_047275908.1:p.Gln923Glu, XP_047275908.1:p.Gln923Ter, XP_047275909.1:p.Gln923Lys, XP_047275909.1:p.Gln923Glu, XP_047275909.1:p.Gln923Ter

Select item 148613092612.

rs1486130926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:55200387 (GRCh38)
7:55268080 (GRCh37)
Canonical SPDI:: NC_000007.14:55200386:G:A,NC_000007.14:55200386:G:C
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.55200387G>A, NC_000007.14:g.55200387G>C, NC_000007.13:g.55268080G>A, NC_000007.13:g.55268080G>C, NG_007726.3:g.186356G>A, NG_007726.3:g.186356G>C, NM_005228.5:c.2920G>A, NM_005228.5:c.2920G>C, NM_005228.4:c.2920G>A, NM_005228.4:c.2920G>C, NM_005228.3:c.2920G>A, NM_005228.3:c.2920G>C, NM_001346899.2:c.2785G>A, NM_001346899.2:c.2785G>C, NM_001346899.1:c.2785G>A, NM_001346899.1:c.2785G>C, NM_001346900.2:c.2761G>A, NM_001346900.2:c.2761G>C, NM_001346900.1:c.2761G>A, NM_001346900.1:c.2761G>C, NM_001346941.2:c.2119G>A, NM_001346941.2:c.2119G>C, NM_001346941.1:c.2119G>A, NM_001346941.1:c.2119G>C, NM_001346898.2:c.2920G>A, NM_001346898.2:c.2920G>C, NM_001346898.1:c.2920G>A, NM_001346898.1:c.2920G>C, NM_001346897.2:c.2785G>A, NM_001346897.2:c.2785G>C, NM_001346897.1:c.2785G>A, NM_001346897.1:c.2785G>C, XM_047419952.1:c.2761G>A, XM_047419952.1:c.2761G>C, XM_047419953.1:c.2761G>A, XM_047419953.1:c.2761G>C, NP_005219.2:p.Asp974Asn, NP_005219.2:p.Asp974His, NP_001333828.1:p.Asp929Asn, NP_001333828.1:p.Asp929His, NP_001333829.1:p.Asp921Asn, NP_001333829.1:p.Asp921His, NP_001333870.1:p.Asp707Asn, NP_001333870.1:p.Asp707His, NP_001333827.1:p.Asp974Asn, NP_001333827.1:p.Asp974His, NP_001333826.1:p.Asp929Asn, NP_001333826.1:p.Asp929His, XP_047275908.1:p.Asp921Asn, XP_047275908.1:p.Asp921His, XP_047275909.1:p.Asp921Asn, XP_047275909.1:p.Asp921His

Select item 148590623713.

rs1485906237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:55143444 (GRCh38)
7:55211137 (GRCh37)
Canonical SPDI:: NC_000007.14:55143443:C:A,NC_000007.14:55143443:C:T
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.55143444C>A, NC_000007.14:g.55143444C>T, NC_000007.13:g.55211137C>A, NC_000007.13:g.55211137C>T, NG_007726.3:g.129413C>A, NG_007726.3:g.129413C>T, NM_005228.5:c.380C>A, NM_005228.5:c.380C>T, NM_005228.4:c.380C>A, NM_005228.4:c.380C>T, NM_005228.3:c.380C>A, NM_005228.3:c.380C>T, NM_001346899.2:c.380C>A, NM_001346899.2:c.380C>T, NM_001346899.1:c.380C>A, NM_001346899.1:c.380C>T, NM_001346900.2:c.221C>A, NM_001346900.2:c.221C>T, NM_001346900.1:c.221C>A, NM_001346900.1:c.221C>T, NM_001346898.2:c.380C>A, NM_001346898.2:c.380C>T, NM_001346898.1:c.380C>A, NM_001346898.1:c.380C>T, NM_001346897.2:c.380C>A, NM_001346897.2:c.380C>T, NM_001346897.1:c.380C>A, NM_001346897.1:c.380C>T, NM_201284.2:c.380C>A, NM_201284.2:c.380C>T, NM_201284.1:c.380C>A, NM_201284.1:c.380C>T, NM_201282.2:c.380C>A, NM_201282.2:c.380C>T, NM_201282.1:c.380C>A, NM_201282.1:c.380C>T, NM_201283.2:c.380C>A, NM_201283.2:c.380C>T, NM_201283.1:c.380C>A, NM_201283.1:c.380C>T, XM_047419952.1:c.221C>A, XM_047419952.1:c.221C>T, XM_047419953.1:c.221C>A, XM_047419953.1:c.221C>T, NP_005219.2:p.Ala127Glu, NP_005219.2:p.Ala127Val, NP_001333828.1:p.Ala127Glu, NP_001333828.1:p.Ala127Val, NP_001333829.1:p.Ala74Glu, NP_001333829.1:p.Ala74Val, NP_001333827.1:p.Ala127Glu, NP_001333827.1:p.Ala127Val, NP_001333826.1:p.Ala127Glu, NP_001333826.1:p.Ala127Val, NP_958441.1:p.Ala127Glu, NP_958441.1:p.Ala127Val, NP_958439.1:p.Ala127Glu, NP_958439.1:p.Ala127Val, NP_958440.1:p.Ala127Glu, NP_958440.1:p.Ala127Val, XP_047275908.1:p.Ala74Glu, XP_047275908.1:p.Ala74Val, XP_047275909.1:p.Ala74Glu, XP_047275909.1:p.Ala74Val

Select item 148501614214.

rs1485016142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:55143455 (GRCh38)
7:55211148 (GRCh37)
Canonical SPDI:: NC_000007.14:55143454:G:A,NC_000007.14:55143454:G:C,NC_000007.14:55143454:G:T
Gene:: EGFR (Varview)
Functional Consequence:: stop_gained,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.55143455G>A, NC_000007.14:g.55143455G>C, NC_000007.14:g.55143455G>T, NC_000007.13:g.55211148G>A, NC_000007.13:g.55211148G>C, NC_000007.13:g.55211148G>T, NG_007726.3:g.129424G>A, NG_007726.3:g.129424G>C, NG_007726.3:g.129424G>T, NM_005228.5:c.391G>A, NM_005228.5:c.391G>C, NM_005228.5:c.391G>T, NM_005228.4:c.391G>A, NM_005228.4:c.391G>C, NM_005228.4:c.391G>T, NM_005228.3:c.391G>A, NM_005228.3:c.391G>C, NM_005228.3:c.391G>T, NM_001346899.2:c.391G>A, NM_001346899.2:c.391G>C, NM_001346899.2:c.391G>T, NM_001346899.1:c.391G>A, NM_001346899.1:c.391G>C, NM_001346899.1:c.391G>T, NM_001346900.2:c.232G>A, NM_001346900.2:c.232G>C, NM_001346900.2:c.232G>T, NM_001346900.1:c.232G>A, NM_001346900.1:c.232G>C, NM_001346900.1:c.232G>T, NM_001346898.2:c.391G>A, NM_001346898.2:c.391G>C, NM_001346898.2:c.391G>T, NM_001346898.1:c.391G>A, NM_001346898.1:c.391G>C, NM_001346898.1:c.391G>T, NM_001346897.2:c.391G>A, NM_001346897.2:c.391G>C, NM_001346897.2:c.391G>T, NM_001346897.1:c.391G>A, NM_001346897.1:c.391G>C, NM_001346897.1:c.391G>T, NM_201284.2:c.391G>A, NM_201284.2:c.391G>C, NM_201284.2:c.391G>T, NM_201284.1:c.391G>A, NM_201284.1:c.391G>C, NM_201284.1:c.391G>T, NM_201282.2:c.391G>A, NM_201282.2:c.391G>C, NM_201282.2:c.391G>T, NM_201282.1:c.391G>A, NM_201282.1:c.391G>C, NM_201282.1:c.391G>T, NM_201283.2:c.391G>A, NM_201283.2:c.391G>C, NM_201283.2:c.391G>T, NM_201283.1:c.391G>A, NM_201283.1:c.391G>C, NM_201283.1:c.391G>T, XM_047419952.1:c.232G>A, XM_047419952.1:c.232G>C, XM_047419952.1:c.232G>T, XM_047419953.1:c.232G>A, XM_047419953.1:c.232G>C, XM_047419953.1:c.232G>T, NP_005219.2:p.Gly131Arg, NP_005219.2:p.Gly131Arg, NP_005219.2:p.Gly131Ter, NP_001333828.1:p.Gly131Arg, NP_001333828.1:p.Gly131Arg, NP_001333828.1:p.Gly131Ter, NP_001333829.1:p.Gly78Arg, NP_001333829.1:p.Gly78Arg, NP_001333829.1:p.Gly78Ter, NP_001333827.1:p.Gly131Arg, NP_001333827.1:p.Gly131Arg, NP_001333827.1:p.Gly131Ter, NP_001333826.1:p.Gly131Arg, NP_001333826.1:p.Gly131Arg, NP_001333826.1:p.Gly131Ter, NP_958441.1:p.Gly131Arg, NP_958441.1:p.Gly131Arg, NP_958441.1:p.Gly131Ter, NP_958439.1:p.Gly131Arg, NP_958439.1:p.Gly131Arg, NP_958439.1:p.Gly131Ter, NP_958440.1:p.Gly131Arg, NP_958440.1:p.Gly131Arg, NP_958440.1:p.Gly131Ter, XP_047275908.1:p.Gly78Arg, XP_047275908.1:p.Gly78Arg, XP_047275908.1:p.Gly78Ter, XP_047275909.1:p.Gly78Arg, XP_047275909.1:p.Gly78Arg, XP_047275909.1:p.Gly78Ter

Select item 148403230315.

rs1484032303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:55155887 (GRCh38)
7:55223580 (GRCh37)
Canonical SPDI:: NC_000007.14:55155886:A:G,NC_000007.14:55155886:A:T
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.55155887A>G, NC_000007.14:g.55155887A>T, NC_000007.13:g.55223580A>G, NC_000007.13:g.55223580A>T, NG_007726.3:g.141856A>G, NG_007726.3:g.141856A>T, NM_005228.5:c.947A>G, NM_005228.5:c.947A>T, NM_005228.4:c.947A>G, NM_005228.4:c.947A>T, NM_005228.3:c.947A>G, NM_005228.3:c.947A>T, NM_001346899.2:c.812A>G, NM_001346899.2:c.812A>T, NM_001346899.1:c.812A>G, NM_001346899.1:c.812A>T, NM_001346900.2:c.788A>G, NM_001346900.2:c.788A>T, NM_001346900.1:c.788A>G, NM_001346900.1:c.788A>T, NM_001346941.2:c.146A>G, NM_001346941.2:c.146A>T, NM_001346941.1:c.146A>G, NM_001346941.1:c.146A>T, NM_001346898.2:c.947A>G, NM_001346898.2:c.947A>T, NM_001346898.1:c.947A>G, NM_001346898.1:c.947A>T, NM_001346897.2:c.812A>G, NM_001346897.2:c.812A>T, NM_001346897.1:c.812A>G, NM_001346897.1:c.812A>T, NM_201284.2:c.947A>G, NM_201284.2:c.947A>T, NM_201284.1:c.947A>G, NM_201284.1:c.947A>T, NM_201282.2:c.947A>G, NM_201282.2:c.947A>T, NM_201282.1:c.947A>G, NM_201282.1:c.947A>T, NM_201283.2:c.947A>G, NM_201283.2:c.947A>T, NM_201283.1:c.947A>G, NM_201283.1:c.947A>T, XM_047419952.1:c.788A>G, XM_047419952.1:c.788A>T, XM_047419953.1:c.788A>G, XM_047419953.1:c.788A>T, NP_005219.2:p.Tyr316Cys, NP_005219.2:p.Tyr316Phe, NP_001333828.1:p.Tyr271Cys, NP_001333828.1:p.Tyr271Phe, NP_001333829.1:p.Tyr263Cys, NP_001333829.1:p.Tyr263Phe, NP_001333870.1:p.Tyr49Cys, NP_001333870.1:p.Tyr49Phe, NP_001333827.1:p.Tyr316Cys, NP_001333827.1:p.Tyr316Phe, NP_001333826.1:p.Tyr271Cys, NP_001333826.1:p.Tyr271Phe, NP_958441.1:p.Tyr316Cys, NP_958441.1:p.Tyr316Phe, NP_958439.1:p.Tyr316Cys, NP_958439.1:p.Tyr316Phe, NP_958440.1:p.Tyr316Cys, NP_958440.1:p.Tyr316Phe, XP_047275908.1:p.Tyr263Cys, XP_047275908.1:p.Tyr263Phe, XP_047275909.1:p.Tyr263Cys, XP_047275909.1:p.Tyr263Phe

Select item 148397343916.

rs1483973439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:55154066 (GRCh38)
7:55221759 (GRCh37)
Canonical SPDI:: NC_000007.14:55154065:T:A,NC_000007.14:55154065:T:C,NC_000007.14:55154065:T:G
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55154066T>A, NC_000007.14:g.55154066T>C, NC_000007.14:g.55154066T>G, NC_000007.13:g.55221759T>A, NC_000007.13:g.55221759T>C, NC_000007.13:g.55221759T>G, NG_007726.3:g.140035T>A, NG_007726.3:g.140035T>C, NG_007726.3:g.140035T>G, NM_005228.5:c.803T>A, NM_005228.5:c.803T>C, NM_005228.5:c.803T>G, NM_005228.4:c.803T>A, NM_005228.4:c.803T>C, NM_005228.4:c.803T>G, NM_005228.3:c.803T>A, NM_005228.3:c.803T>C, NM_005228.3:c.803T>G, NM_001346899.2:c.668T>A, NM_001346899.2:c.668T>C, NM_001346899.2:c.668T>G, NM_001346899.1:c.668T>A, NM_001346899.1:c.668T>C, NM_001346899.1:c.668T>G, NM_001346900.2:c.644T>A, NM_001346900.2:c.644T>C, NM_001346900.2:c.644T>G, NM_001346900.1:c.644T>A, NM_001346900.1:c.644T>C, NM_001346900.1:c.644T>G, NM_001346898.2:c.803T>A, NM_001346898.2:c.803T>C, NM_001346898.2:c.803T>G, NM_001346898.1:c.803T>A, NM_001346898.1:c.803T>C, NM_001346898.1:c.803T>G, NM_001346897.2:c.668T>A, NM_001346897.2:c.668T>C, NM_001346897.2:c.668T>G, NM_001346897.1:c.668T>A, NM_001346897.1:c.668T>C, NM_001346897.1:c.668T>G, NM_201284.2:c.803T>A, NM_201284.2:c.803T>C, NM_201284.2:c.803T>G, NM_201284.1:c.803T>A, NM_201284.1:c.803T>C, NM_201284.1:c.803T>G, NM_201282.2:c.803T>A, NM_201282.2:c.803T>C, NM_201282.2:c.803T>G, NM_201282.1:c.803T>A, NM_201282.1:c.803T>C, NM_201282.1:c.803T>G, NM_201283.2:c.803T>A, NM_201283.2:c.803T>C, NM_201283.2:c.803T>G, NM_201283.1:c.803T>A, NM_201283.1:c.803T>C, NM_201283.1:c.803T>G, XM_047419952.1:c.644T>A, XM_047419952.1:c.644T>C, XM_047419952.1:c.644T>G, XM_047419953.1:c.644T>A, XM_047419953.1:c.644T>C, XM_047419953.1:c.644T>G, NP_005219.2:p.Met268Lys, NP_005219.2:p.Met268Thr, NP_005219.2:p.Met268Arg, NP_001333828.1:p.Met223Lys, NP_001333828.1:p.Met223Thr, NP_001333828.1:p.Met223Arg, NP_001333829.1:p.Met215Lys, NP_001333829.1:p.Met215Thr, NP_001333829.1:p.Met215Arg, NP_001333827.1:p.Met268Lys, NP_001333827.1:p.Met268Thr, NP_001333827.1:p.Met268Arg, NP_001333826.1:p.Met223Lys, NP_001333826.1:p.Met223Thr, NP_001333826.1:p.Met223Arg, NP_958441.1:p.Met268Lys, NP_958441.1:p.Met268Thr, NP_958441.1:p.Met268Arg, NP_958439.1:p.Met268Lys, NP_958439.1:p.Met268Thr, NP_958439.1:p.Met268Arg, NP_958440.1:p.Met268Lys, NP_958440.1:p.Met268Thr, NP_958440.1:p.Met268Arg, XP_047275908.1:p.Met215Lys, XP_047275908.1:p.Met215Thr, XP_047275908.1:p.Met215Arg, XP_047275909.1:p.Met215Lys, XP_047275909.1:p.Met215Thr, XP_047275909.1:p.Met215Arg

Select item 148223619317.

rs1482236193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55161542 (GRCh38)
7:55229235 (GRCh37)
Canonical SPDI:: NC_000007.14:55161541:C:A,NC_000007.14:55161541:C:G,NC_000007.14:55161541:C:T
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55161542C>A, NC_000007.14:g.55161542C>G, NC_000007.14:g.55161542C>T, NC_000007.13:g.55229235C>A, NC_000007.13:g.55229235C>G, NC_000007.13:g.55229235C>T, NG_007726.3:g.147511C>A, NG_007726.3:g.147511C>G, NG_007726.3:g.147511C>T, NM_005228.5:c.1542C>A, NM_005228.5:c.1542C>G, NM_005228.5:c.1542C>T, NM_005228.4:c.1542C>A, NM_005228.4:c.1542C>G, NM_005228.4:c.1542C>T, NM_005228.3:c.1542C>A, NM_005228.3:c.1542C>G, NM_005228.3:c.1542C>T, NM_001346899.2:c.1407C>A, NM_001346899.2:c.1407C>G, NM_001346899.2:c.1407C>T, NM_001346899.1:c.1407C>A, NM_001346899.1:c.1407C>G, NM_001346899.1:c.1407C>T, NM_001346900.2:c.1383C>A, NM_001346900.2:c.1383C>G, NM_001346900.2:c.1383C>T, NM_001346900.1:c.1383C>A, NM_001346900.1:c.1383C>G, NM_001346900.1:c.1383C>T, NM_001346941.2:c.741C>A, NM_001346941.2:c.741C>G, NM_001346941.2:c.741C>T, NM_001346941.1:c.741C>A, NM_001346941.1:c.741C>G, NM_001346941.1:c.741C>T, NM_001346898.2:c.1542C>A, NM_001346898.2:c.1542C>G, NM_001346898.2:c.1542C>T, NM_001346898.1:c.1542C>A, NM_001346898.1:c.1542C>G, NM_001346898.1:c.1542C>T, NM_001346897.2:c.1407C>A, NM_001346897.2:c.1407C>G, NM_001346897.2:c.1407C>T, NM_001346897.1:c.1407C>A, NM_001346897.1:c.1407C>G, NM_001346897.1:c.1407C>T, NM_201284.2:c.1542C>A, NM_201284.2:c.1542C>G, NM_201284.2:c.1542C>T, NM_201284.1:c.1542C>A, NM_201284.1:c.1542C>G, NM_201284.1:c.1542C>T, NM_201282.2:c.1542C>A, NM_201282.2:c.1542C>G, NM_201282.2:c.1542C>T, NM_201282.1:c.1542C>A, NM_201282.1:c.1542C>G, NM_201282.1:c.1542C>T, XM_047419952.1:c.1383C>A, XM_047419952.1:c.1383C>G, XM_047419952.1:c.1383C>T, XM_047419953.1:c.1383C>A, XM_047419953.1:c.1383C>G, XM_047419953.1:c.1383C>T

Select item 148179147818.

rs1481791478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:55202552 (GRCh38)
7:55270245 (GRCh37)
Canonical SPDI:: NC_000007.14:55202551:G:A,NC_000007.14:55202551:G:C
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55202552G>A, NC_000007.14:g.55202552G>C, NC_000007.13:g.55270245G>A, NC_000007.13:g.55270245G>C, NG_007726.3:g.188521G>A, NG_007726.3:g.188521G>C, NM_005228.5:c.3198G>A, NM_005228.5:c.3198G>C, NM_005228.4:c.3198G>A, NM_005228.4:c.3198G>C, NM_005228.3:c.3198G>A, NM_005228.3:c.3198G>C, NM_001346899.2:c.3063G>A, NM_001346899.2:c.3063G>C, NM_001346899.1:c.3063G>A, NM_001346899.1:c.3063G>C, NM_001346900.2:c.3039G>A, NM_001346900.2:c.3039G>C, NM_001346900.1:c.3039G>A, NM_001346900.1:c.3039G>C, NM_001346941.2:c.2397G>A, NM_001346941.2:c.2397G>C, NM_001346941.1:c.2397G>A, NM_001346941.1:c.2397G>C, NM_001346898.2:c.3198G>A, NM_001346898.2:c.3198G>C, NM_001346898.1:c.3198G>A, NM_001346898.1:c.3198G>C, NM_001346897.2:c.3063G>A, NM_001346897.2:c.3063G>C, NM_001346897.1:c.3063G>A, NM_001346897.1:c.3063G>C, XM_047419952.1:c.3039G>A, XM_047419952.1:c.3039G>C, XM_047419953.1:c.3039G>A, XM_047419953.1:c.3039G>C, NP_005219.2:p.Leu1066Phe, NP_001333828.1:p.Leu1021Phe, NP_001333829.1:p.Leu1013Phe, NP_001333870.1:p.Leu799Phe, NP_001333827.1:p.Leu1066Phe, NP_001333826.1:p.Leu1021Phe, XP_047275908.1:p.Leu1013Phe, XP_047275909.1:p.Leu1013Phe

Select item 148170307519.

rs1481703075 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT [Show Flanks]
Chromosome:: 7:55161619 (GRCh38)
7:55229313 (GRCh37)
Canonical SPDI:: NC_000007.14:55161619::GTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT
Gene:: EGFR (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.55161619_55161620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NC_000007.13:g.55229312_55229313insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NG_007726.3:g.147588_147589insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_005228.5:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_005228.4:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_005228.3:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346899.2:c.1484_1485insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346899.1:c.1484_1485insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346900.2:c.1460_1461insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346900.1:c.1460_1461insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346941.2:c.818_819insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346941.1:c.818_819insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346898.2:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346898.1:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346897.2:c.1484_1485insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_001346897.1:c.1484_1485insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_201284.2:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_201284.1:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_201282.2:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NM_201282.1:c.1619_1620insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, XM_047419952.1:c.1460_1461insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, XM_047419953.1:c.1460_1461insGTCGGCCTCTGGGAAGCCCAGTCTGTGTCCTCCT, NP_005219.2:p.Asn540fs, NP_001333828.1:p.Asn495fs, NP_001333829.1:p.Asn487fs, NP_001333870.1:p.Asn273fs, NP_001333827.1:p.Asn540fs, NP_001333826.1:p.Asn495fs, NP_958441.1:p.Asn540fs, NP_958439.1:p.Asn540fs, XP_047275908.1:p.Asn487fs, XP_047275909.1:p.Asn487fs

Select item 148063879220.

rs1480638792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55198826 (GRCh38)
7:55266519 (GRCh37)
Canonical SPDI:: NC_000007.14:55198825:C:A,NC_000007.14:55198825:C:G,NC_000007.14:55198825:C:T
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55198826C>A, NC_000007.14:g.55198826C>G, NC_000007.14:g.55198826C>T, NC_000007.13:g.55266519C>A, NC_000007.13:g.55266519C>G, NC_000007.13:g.55266519C>T, NG_007726.3:g.184795C>A, NG_007726.3:g.184795C>G, NG_007726.3:g.184795C>T, NM_005228.5:c.2811C>A, NM_005228.5:c.2811C>G, NM_005228.5:c.2811C>T, NM_005228.4:c.2811C>A, NM_005228.4:c.2811C>G, NM_005228.4:c.2811C>T, NM_005228.3:c.2811C>A, NM_005228.3:c.2811C>G, NM_005228.3:c.2811C>T, NM_001346899.2:c.2676C>A, NM_001346899.2:c.2676C>G, NM_001346899.2:c.2676C>T, NM_001346899.1:c.2676C>A, NM_001346899.1:c.2676C>G, NM_001346899.1:c.2676C>T, NM_001346900.2:c.2652C>A, NM_001346900.2:c.2652C>G, NM_001346900.2:c.2652C>T, NM_001346900.1:c.2652C>A, NM_001346900.1:c.2652C>G, NM_001346900.1:c.2652C>T, NM_001346941.2:c.2010C>A, NM_001346941.2:c.2010C>G, NM_001346941.2:c.2010C>T, NM_001346941.1:c.2010C>A, NM_001346941.1:c.2010C>G, NM_001346941.1:c.2010C>T, NM_001346898.2:c.2811C>A, NM_001346898.2:c.2811C>G, NM_001346898.2:c.2811C>T, NM_001346898.1:c.2811C>A, NM_001346898.1:c.2811C>G, NM_001346898.1:c.2811C>T, NM_001346897.2:c.2676C>A, NM_001346897.2:c.2676C>G, NM_001346897.2:c.2676C>T, NM_001346897.1:c.2676C>A, NM_001346897.1:c.2676C>G, NM_001346897.1:c.2676C>T, XM_047419952.1:c.2652C>A, XM_047419952.1:c.2652C>G, XM_047419952.1:c.2652C>T, XM_047419953.1:c.2652C>A, XM_047419953.1:c.2652C>G, XM_047419953.1:c.2652C>T

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