SNP Links for Protein (Select 41327736) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 647

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Select item 14905924451.

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 14903155772.

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 14888434323.

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 14887690734.

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 14886956035.

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 14866677446.

rs1486667744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCT [Show Flanks]
Chromosome:: 7:55170408 (GRCh38)
7:55238102 (GRCh37)
Canonical SPDI:: NC_000007.14:55170408:AGCT:AGCTAGCT
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCTAGCT=0./0 (ALFA)
AGCT=0.000004/1 (GnomAD_exomes)
AGCT=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55170409_55170412dup, NC_000007.13:g.55238102_55238105dup, NG_007726.3:g.156378_156381dup, NM_201284.2:c.1983_1986dup, NM_201284.1:c.1983_1986dup, NP_958441.1:p.Ala663fs

Select item 14859062377.

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 14850161428.

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 14840323039.

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 148397343910.

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 148223619311.

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 148170307512.

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 147838357913.

rs1478383579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55170507 (GRCh38)
7:55238200 (GRCh37)
Canonical SPDI:: NC_000007.14:55170506:C:A,NC_000007.14:55170506:C:G,NC_000007.14:55170506:C:T
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,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_000007.14:g.55170507C>A, NC_000007.14:g.55170507C>G, NC_000007.14:g.55170507C>T, NC_000007.13:g.55238200C>A, NC_000007.13:g.55238200C>G, NC_000007.13:g.55238200C>T, NG_007726.3:g.156476C>A, NG_007726.3:g.156476C>G, NG_007726.3:g.156476C>T, NM_201284.2:c.2081C>A, NM_201284.2:c.2081C>G, NM_201284.2:c.2081C>T, NM_201284.1:c.2081C>A, NM_201284.1:c.2081C>G, NM_201284.1:c.2081C>T, NP_958441.1:p.Ser694Tyr, NP_958441.1:p.Ser694Cys, NP_958441.1:p.Ser694Phe

Select item 147702500014.

rs1477025000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:55165344 (GRCh38)
7:55233037 (GRCh37)
Canonical SPDI:: NC_000007.14:55165343:C:G,NC_000007.14:55165343:C:T
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.55165344C>G, NC_000007.14:g.55165344C>T, NC_000007.13:g.55233037C>G, NC_000007.13:g.55233037C>T, NG_007726.3:g.151313C>G, NG_007726.3:g.151313C>T, NM_005228.5:c.1787C>G, NM_005228.5:c.1787C>T, NM_005228.4:c.1787C>G, NM_005228.4:c.1787C>T, NM_005228.3:c.1787C>G, NM_005228.3:c.1787C>T, NM_001346899.2:c.1652C>G, NM_001346899.2:c.1652C>T, NM_001346899.1:c.1652C>G, NM_001346899.1:c.1652C>T, NM_001346900.2:c.1628C>G, NM_001346900.2:c.1628C>T, NM_001346900.1:c.1628C>G, NM_001346900.1:c.1628C>T, NM_001346941.2:c.986C>G, NM_001346941.2:c.986C>T, NM_001346941.1:c.986C>G, NM_001346941.1:c.986C>T, NM_001346898.2:c.1787C>G, NM_001346898.2:c.1787C>T, NM_001346898.1:c.1787C>G, NM_001346898.1:c.1787C>T, NM_001346897.2:c.1652C>G, NM_001346897.2:c.1652C>T, NM_001346897.1:c.1652C>G, NM_001346897.1:c.1652C>T, NM_201284.2:c.1787C>G, NM_201284.2:c.1787C>T, NM_201284.1:c.1787C>G, NM_201284.1:c.1787C>T, NM_201282.2:c.1787C>G, NM_201282.2:c.1787C>T, NM_201282.1:c.1787C>G, NM_201282.1:c.1787C>T, XM_047419952.1:c.1628C>G, XM_047419952.1:c.1628C>T, XM_047419953.1:c.1628C>G, XM_047419953.1:c.1628C>T, NP_005219.2:p.Pro596Arg, NP_005219.2:p.Pro596Leu, NP_001333828.1:p.Pro551Arg, NP_001333828.1:p.Pro551Leu, NP_001333829.1:p.Pro543Arg, NP_001333829.1:p.Pro543Leu, NP_001333870.1:p.Pro329Arg, NP_001333870.1:p.Pro329Leu, NP_001333827.1:p.Pro596Arg, NP_001333827.1:p.Pro596Leu, NP_001333826.1:p.Pro551Arg, NP_001333826.1:p.Pro551Leu, NP_958441.1:p.Pro596Arg, NP_958441.1:p.Pro596Leu, NP_958439.1:p.Pro596Arg, NP_958439.1:p.Pro596Leu, XP_047275908.1:p.Pro543Arg, XP_047275908.1:p.Pro543Leu, XP_047275909.1:p.Pro543Arg, XP_047275909.1:p.Pro543Leu

Select item 147589201715.

rs1475892017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:55165420 (GRCh38)
7:55233113 (GRCh37)
Canonical SPDI:: NC_000007.14:55165419:T:C
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.55165420T>C, NC_000007.13:g.55233113T>C, NG_007726.3:g.151389T>C, NM_005228.5:c.1863T>C, NM_005228.4:c.1863T>C, NM_005228.3:c.1863T>C, NM_001346899.2:c.1728T>C, NM_001346899.1:c.1728T>C, NM_001346900.2:c.1704T>C, NM_001346900.1:c.1704T>C, NM_001346941.2:c.1062T>C, NM_001346941.1:c.1062T>C, NM_001346898.2:c.1863T>C, NM_001346898.1:c.1863T>C, NM_001346897.2:c.1728T>C, NM_001346897.1:c.1728T>C, NM_201284.2:c.1863T>C, NM_201284.1:c.1863T>C, NM_201282.2:c.1863T>C, NM_201282.1:c.1863T>C, XM_047419952.1:c.1704T>C, XM_047419953.1:c.1704T>C

Select item 147543169116.

rs1475431691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:55170428 (GRCh38)
7:55238121 (GRCh37)
Canonical SPDI:: NC_000007.14:55170427:T:A,NC_000007.14:55170427:T:C,NC_000007.14:55170427:T:G
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.55170428T>A, NC_000007.14:g.55170428T>C, NC_000007.14:g.55170428T>G, NC_000007.13:g.55238121T>A, NC_000007.13:g.55238121T>C, NC_000007.13:g.55238121T>G, NG_007726.3:g.156397T>A, NG_007726.3:g.156397T>C, NG_007726.3:g.156397T>G, NM_201284.2:c.2002T>A, NM_201284.2:c.2002T>C, NM_201284.2:c.2002T>G, NM_201284.1:c.2002T>A, NM_201284.1:c.2002T>C, NM_201284.1:c.2002T>G, NP_958441.1:p.Leu668Ile, NP_958441.1:p.Leu668Val

Select item 147238029617.

rs1472380296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:55156591 (GRCh38)
7:55224284 (GRCh37)
Canonical SPDI:: NC_000007.14:55156590:T:A,NC_000007.14:55156590:T:C,NC_000007.14:55156590:T:G
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55156591T>A, NC_000007.14:g.55156591T>C, NC_000007.14:g.55156591T>G, NC_000007.13:g.55224284T>A, NC_000007.13:g.55224284T>C, NC_000007.13:g.55224284T>G, NG_007726.3:g.142560T>A, NG_007726.3:g.142560T>C, NG_007726.3:g.142560T>G, NM_005228.5:c.1065T>A, NM_005228.5:c.1065T>C, NM_005228.5:c.1065T>G, NM_005228.4:c.1065T>A, NM_005228.4:c.1065T>C, NM_005228.4:c.1065T>G, NM_005228.3:c.1065T>A, NM_005228.3:c.1065T>C, NM_005228.3:c.1065T>G, NM_001346899.2:c.930T>A, NM_001346899.2:c.930T>C, NM_001346899.2:c.930T>G, NM_001346899.1:c.930T>A, NM_001346899.1:c.930T>C, NM_001346899.1:c.930T>G, NM_001346900.2:c.906T>A, NM_001346900.2:c.906T>C, NM_001346900.2:c.906T>G, NM_001346900.1:c.906T>A, NM_001346900.1:c.906T>C, NM_001346900.1:c.906T>G, NM_001346941.2:c.264T>A, NM_001346941.2:c.264T>C, NM_001346941.2:c.264T>G, NM_001346941.1:c.264T>A, NM_001346941.1:c.264T>C, NM_001346941.1:c.264T>G, NM_001346898.2:c.1065T>A, NM_001346898.2:c.1065T>C, NM_001346898.2:c.1065T>G, NM_001346898.1:c.1065T>A, NM_001346898.1:c.1065T>C, NM_001346898.1:c.1065T>G, NM_001346897.2:c.930T>A, NM_001346897.2:c.930T>C, NM_001346897.2:c.930T>G, NM_001346897.1:c.930T>A, NM_001346897.1:c.930T>C, NM_001346897.1:c.930T>G, NM_201284.2:c.1065T>A, NM_201284.2:c.1065T>C, NM_201284.2:c.1065T>G, NM_201284.1:c.1065T>A, NM_201284.1:c.1065T>C, NM_201284.1:c.1065T>G, NM_201282.2:c.1065T>A, NM_201282.2:c.1065T>C, NM_201282.2:c.1065T>G, NM_201282.1:c.1065T>A, NM_201282.1:c.1065T>C, NM_201282.1:c.1065T>G, NM_201283.2:c.1065T>A, NM_201283.2:c.1065T>C, NM_201283.2:c.1065T>G, NM_201283.1:c.1065T>A, NM_201283.1:c.1065T>C, NM_201283.1:c.1065T>G, XM_047419952.1:c.906T>A, XM_047419952.1:c.906T>C, XM_047419952.1:c.906T>G, XM_047419953.1:c.906T>A, XM_047419953.1:c.906T>C, XM_047419953.1:c.906T>G, NP_005219.2:p.Asn355Lys, NP_005219.2:p.Asn355Lys, NP_001333828.1:p.Asn310Lys, NP_001333828.1:p.Asn310Lys, NP_001333829.1:p.Asn302Lys, NP_001333829.1:p.Asn302Lys, NP_001333870.1:p.Asn88Lys, NP_001333870.1:p.Asn88Lys, NP_001333827.1:p.Asn355Lys, NP_001333827.1:p.Asn355Lys, NP_001333826.1:p.Asn310Lys, NP_001333826.1:p.Asn310Lys, NP_958441.1:p.Asn355Lys, NP_958441.1:p.Asn355Lys, NP_958439.1:p.Asn355Lys, NP_958439.1:p.Asn355Lys, NP_958440.1:p.Asn355Lys, NP_958440.1:p.Asn355Lys, XP_047275908.1:p.Asn302Lys, XP_047275908.1:p.Asn302Lys, XP_047275909.1:p.Asn302Lys, XP_047275909.1:p.Asn302Lys

Select item 147075741618.

rs1470757416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55142408 (GRCh38)
7:55210101 (GRCh37)
Canonical SPDI:: NC_000007.14:55142407:C:A,NC_000007.14:55142407:C:G,NC_000007.14:55142407:C:T
Gene:: EGFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55142408C>A, NC_000007.14:g.55142408C>G, NC_000007.14:g.55142408C>T, NC_000007.13:g.55210101C>A, NC_000007.13:g.55210101C>G, NC_000007.13:g.55210101C>T, NG_007726.3:g.128377C>A, NG_007726.3:g.128377C>G, NG_007726.3:g.128377C>T, NM_005228.5:c.211C>A, NM_005228.5:c.211C>G, NM_005228.5:c.211C>T, NM_005228.4:c.211C>A, NM_005228.4:c.211C>G, NM_005228.4:c.211C>T, NM_005228.3:c.211C>A, NM_005228.3:c.211C>G, NM_005228.3:c.211C>T, NM_001346899.2:c.211C>A, NM_001346899.2:c.211C>G, NM_001346899.2:c.211C>T, NM_001346899.1:c.211C>A, NM_001346899.1:c.211C>G, NM_001346899.1:c.211C>T, NM_001346900.2:c.52C>A, NM_001346900.2:c.52C>G, NM_001346900.2:c.52C>T, NM_001346900.1:c.52C>A, NM_001346900.1:c.52C>G, NM_001346900.1:c.52C>T, NM_001346898.2:c.211C>A, NM_001346898.2:c.211C>G, NM_001346898.2:c.211C>T, NM_001346898.1:c.211C>A, NM_001346898.1:c.211C>G, NM_001346898.1:c.211C>T, NM_001346897.2:c.211C>A, NM_001346897.2:c.211C>G, NM_001346897.2:c.211C>T, NM_001346897.1:c.211C>A, NM_001346897.1:c.211C>G, NM_001346897.1:c.211C>T, NM_201284.2:c.211C>A, NM_201284.2:c.211C>G, NM_201284.2:c.211C>T, NM_201284.1:c.211C>A, NM_201284.1:c.211C>G, NM_201284.1:c.211C>T, NM_201282.2:c.211C>A, NM_201282.2:c.211C>G, NM_201282.2:c.211C>T, NM_201282.1:c.211C>A, NM_201282.1:c.211C>G, NM_201282.1:c.211C>T, NM_201283.2:c.211C>A, NM_201283.2:c.211C>G, NM_201283.2:c.211C>T, NM_201283.1:c.211C>A, NM_201283.1:c.211C>G, NM_201283.1:c.211C>T, XM_047419952.1:c.52C>A, XM_047419952.1:c.52C>G, XM_047419952.1:c.52C>T, XM_047419953.1:c.52C>A, XM_047419953.1:c.52C>G, XM_047419953.1:c.52C>T, NP_005219.2:p.Gln71Lys, NP_005219.2:p.Gln71Glu, NP_005219.2:p.Gln71Ter, NP_001333828.1:p.Gln71Lys, NP_001333828.1:p.Gln71Glu, NP_001333828.1:p.Gln71Ter, NP_001333829.1:p.Gln18Lys, NP_001333829.1:p.Gln18Glu, NP_001333829.1:p.Gln18Ter, NP_001333827.1:p.Gln71Lys, NP_001333827.1:p.Gln71Glu, NP_001333827.1:p.Gln71Ter, NP_001333826.1:p.Gln71Lys, NP_001333826.1:p.Gln71Glu, NP_001333826.1:p.Gln71Ter, NP_958441.1:p.Gln71Lys, NP_958441.1:p.Gln71Glu, NP_958441.1:p.Gln71Ter, NP_958439.1:p.Gln71Lys, NP_958439.1:p.Gln71Glu, NP_958439.1:p.Gln71Ter, NP_958440.1:p.Gln71Lys, NP_958440.1:p.Gln71Glu, NP_958440.1:p.Gln71Ter, XP_047275908.1:p.Gln18Lys, XP_047275908.1:p.Gln18Glu, XP_047275908.1:p.Gln18Ter, XP_047275909.1:p.Gln18Lys, XP_047275909.1:p.Gln18Glu, XP_047275909.1:p.Gln18Ter

Select item 146947253019.

rs1469472530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:55156831 (GRCh38)
7:55224524 (GRCh37)
Canonical SPDI:: NC_000007.14:55156830:A:C,NC_000007.14:55156830:A:G,NC_000007.14:55156830:A:T
Gene:: EGFR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55156831A>C, NC_000007.14:g.55156831A>G, NC_000007.14:g.55156831A>T, NC_000007.13:g.55224524A>C, NC_000007.13:g.55224524A>G, NC_000007.13:g.55224524A>T, NG_007726.3:g.142800A>C, NG_007726.3:g.142800A>G, NG_007726.3:g.142800A>T, NM_005228.5:c.1206A>C, NM_005228.5:c.1206A>G, NM_005228.5:c.1206A>T, NM_005228.4:c.1206A>C, NM_005228.4:c.1206A>G, NM_005228.4:c.1206A>T, NM_005228.3:c.1206A>C, NM_005228.3:c.1206A>G, NM_005228.3:c.1206A>T, NM_001346899.2:c.1071A>C, NM_001346899.2:c.1071A>G, NM_001346899.2:c.1071A>T, NM_001346899.1:c.1071A>C, NM_001346899.1:c.1071A>G, NM_001346899.1:c.1071A>T, NM_001346900.2:c.1047A>C, NM_001346900.2:c.1047A>G, NM_001346900.2:c.1047A>T, NM_001346900.1:c.1047A>C, NM_001346900.1:c.1047A>G, NM_001346900.1:c.1047A>T, NM_001346941.2:c.405A>C, NM_001346941.2:c.405A>G, NM_001346941.2:c.405A>T, NM_001346941.1:c.405A>C, NM_001346941.1:c.405A>G, NM_001346941.1:c.405A>T, NM_001346898.2:c.1206A>C, NM_001346898.2:c.1206A>G, NM_001346898.2:c.1206A>T, NM_001346898.1:c.1206A>C, NM_001346898.1:c.1206A>G, NM_001346898.1:c.1206A>T, NM_001346897.2:c.1071A>C, NM_001346897.2:c.1071A>G, NM_001346897.2:c.1071A>T, NM_001346897.1:c.1071A>C, NM_001346897.1:c.1071A>G, NM_001346897.1:c.1071A>T, NM_201284.2:c.1206A>C, NM_201284.2:c.1206A>G, NM_201284.2:c.1206A>T, NM_201284.1:c.1206A>C, NM_201284.1:c.1206A>G, NM_201284.1:c.1206A>T, NM_201282.2:c.1206A>C, NM_201282.2:c.1206A>G, NM_201282.2:c.1206A>T, NM_201282.1:c.1206A>C, NM_201282.1:c.1206A>G, NM_201282.1:c.1206A>T, NM_201283.2:c.1206A>C, NM_201283.2:c.1206A>G, NM_201283.2:c.1206A>T, NM_201283.1:c.1206A>C, NM_201283.1:c.1206A>G, NM_201283.1:c.1206A>T, XM_047419952.1:c.1047A>C, XM_047419952.1:c.1047A>G, XM_047419952.1:c.1047A>T, XM_047419953.1:c.1047A>C, XM_047419953.1:c.1047A>G, XM_047419953.1:c.1047A>T

Select item 146492888420.

rs1464928884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:55146646 (GRCh38)
7:55214339 (GRCh37)
Canonical SPDI:: NC_000007.14:55146645:C:A,NC_000007.14:55146645:C:G,NC_000007.14:55146645: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:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55146646C>A, NC_000007.14:g.55146646C>G, NC_000007.14:g.55146646C>T, NC_000007.13:g.55214339C>A, NC_000007.13:g.55214339C>G, NC_000007.13:g.55214339C>T, NG_007726.3:g.132615C>A, NG_007726.3:g.132615C>G, NG_007726.3:g.132615C>T, NM_005228.5:c.465C>A, NM_005228.5:c.465C>G, NM_005228.5:c.465C>T, NM_005228.4:c.465C>A, NM_005228.4:c.465C>G, NM_005228.4:c.465C>T, NM_005228.3:c.465C>A, NM_005228.3:c.465C>G, NM_005228.3:c.465C>T, NM_001346900.2:c.306C>A, NM_001346900.2:c.306C>G, NM_001346900.2:c.306C>T, NM_001346900.1:c.306C>A, NM_001346900.1:c.306C>G, NM_001346900.1:c.306C>T, NM_001346898.2:c.465C>A, NM_001346898.2:c.465C>G, NM_001346898.2:c.465C>T, NM_001346898.1:c.465C>A, NM_001346898.1:c.465C>G, NM_001346898.1:c.465C>T, NM_201284.2:c.465C>A, NM_201284.2:c.465C>G, NM_201284.2:c.465C>T, NM_201284.1:c.465C>A, NM_201284.1:c.465C>G, NM_201284.1:c.465C>T, NM_201282.2:c.465C>A, NM_201282.2:c.465C>G, NM_201282.2:c.465C>T, NM_201282.1:c.465C>A, NM_201282.1:c.465C>G, NM_201282.1:c.465C>T, NM_201283.2:c.465C>A, NM_201283.2:c.465C>G, NM_201283.2:c.465C>T, NM_201283.1:c.465C>A, NM_201283.1:c.465C>G, NM_201283.1:c.465C>T, XM_047419952.1:c.306C>A, XM_047419952.1:c.306C>G, XM_047419952.1:c.306C>T, XM_047419953.1:c.306C>A, XM_047419953.1:c.306C>G, XM_047419953.1:c.306C>T

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