| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55181305_55181318dup | CA645561557 | EGFR,EGFR-AS1 | c.2137_2150dup (p.Asp717GlufsTer?) c.645_658dup c.2296_2309dup (p.Asp770GlufsTer?) c.*28+8377_*28+8390dup (n.*28+8377_*28+8390dup) c.2161_2174dup (p.Asp725GlufsTer?) n.1253_1266dup c.1495_1508dup (p.Asp503GlufsTer?) | COSMIC |
| 7 | g.55181312_55181313insTGTGGCCAG | CA645561558 | EGFR,EGFR-AS1 | c.2144_2145insTGTGGCCAG (p.Ser715_Val716insValAlaSer) c.652_653insTGTGGCCAG c.2303_2304insTGTGGCCAG (p.Ser768_Val769insValAlaSer) c.*28+8384_*28+8385insTGTGGCCAG (n.*28+8384_*28+8385insTGTGGCCAG) c.2168_2169insTGTGGCCAG (p.Ser723_Val724insValAlaSer) n.1265_1266insCACTGGCCA c.1502_1503insTGTGGCCAG (p.Ser501_Val502insValAlaSer) | dbSNP COSMIC |
| 7 | g.55181309_55181317dup | CA180588 | EGFR,EGFR-AS1 | c.2141_2149dup (p.Val716_Asp717insAlaSerVal) c.649_657dup c.2300_2308dup (p.Val769_Asp770insAlaSerVal) c.*28+8381_*28+8389dup (n.*28+8381_*28+8389dup) c.2165_2173dup (p.Val724_Asp725insAlaSerVal) n.1257_1265dup c.1499_1507dup (p.Val502_Asp503insAlaSerVal) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.55181317_55181318insGCAGCGTGG | CA645561561 | EGFR,EGFR-AS1 | c.2149_2150insGCAGCGTGG (p.Val716_Asp717insGlySerVal) c.657_658insGCAGCGTGG c.2308_2309insGCAGCGTGG (p.Val769_Asp770insGlySerVal) c.*28+8389_*28+8390insGCAGCGTGG (n.*28+8389_*28+8390insGCAGCGTGG) c.2173_2174insGCAGCGTGG (p.Val724_Asp725insGlySerVal) n.1261_1262insCCCACGCTG c.1507_1508insGCAGCGTGG (p.Val502_Asp503insGlySerVal) | dbSNP COSMIC |
| 7 | g.55181312_55181320dup | CA135844 | EGFR,EGFR-AS1 | c.2144_2152dup (p.Asp717_Asn718insSerValAsp) c.652_660dup c.2303_2311dup (p.Asp770_Asn771insSerValAsp) c.*28+8384_*28+8392dup (n.*28+8384_*28+8392dup) c.2168_2176dup (p.Asp725_Asn726insSerValAsp) n.1253_1261dup c.1502_1510dup (p.Asp503_Asn504insSerValAsp) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 7 | g.55181311_55181314delinsCCGC | CA891842006 | EGFR,EGFR-AS1 | c.2143_2146delinsCCGC (p.Ser715_Val716delinsProLeu) c.651_654delinsCCGC c.2302_2305delinsCCGC (p.Ser768_Val769delinsProLeu) c.*28+8383_*28+8386delinsCCGC (n.*28+8383_*28+8386delinsCCGC) c.2167_2170delinsCCGC (p.Ser723_Val724delinsProLeu) n.1257_1260delinsGCGG c.1501_1504delinsCCGC (p.Ser501_Val502delinsProLeu) | |
| 7 | g.55181317_55181318insGGAGCGTGG | CA645561564 | EGFR,EGFR-AS1 | c.2149_2150insGGAGCGTGG (p.Val716_Asp717insGlySerVal) c.657_658insGGAGCGTGG c.2308_2309insGGAGCGTGG (p.Val769_Asp770insGlySerVal) c.*28+8389_*28+8390insGGAGCGTGG (n.*28+8389_*28+8390insGGAGCGTGG) c.2173_2174insGGAGCGTGG (p.Val724_Asp725insGlySerVal) n.1260_1261insCCCCACGCT c.1507_1508insGGAGCGTGG (p.Val502_Asp503insGlySerVal) | dbSNP COSMIC |
| 7 | g.55181317_55181318insGTAGCGTGG | CA2573129744 | EGFR,EGFR-AS1 | c.2149_2150insGTAGCGTGG (p.Val716_Asp717insGlySerVal) c.657_658insGTAGCGTGG c.2308_2309insGTAGCGTGG (p.Val769_Asp770insGlySerVal) c.*28+8389_*28+8390insGTAGCGTGG (n.*28+8389_*28+8390insGTAGCGTGG) c.2173_2174insGTAGCGTGG (p.Val724_Asp725insGlySerVal) n.1260_1261insACCCACGCT c.1507_1508insGTAGCGTGG (p.Val502_Asp503insGlySerVal) | |
| 7 | g.55181312G>A | CA367578594 | EGFR,EGFR-AS1 | c.2144G>A (p.Ser715Asn) c.652G>A c.2303G>A (p.Ser768Asn) c.*28+8384G>A (n.*28+8384G>A) c.2168G>A (p.Ser723Asn) n.1259C>T c.1502G>A (p.Ser501Asn) | ClinVar dbSNP COSMIC |
| 7 | g.55181312G>C | CA367578596 | EGFR,EGFR-AS1 | c.2144G>C (p.Ser715Thr) c.652G>C c.2303G>C (p.Ser768Thr) c.*28+8384G>C (n.*28+8384G>C) c.2168G>C (p.Ser723Thr) n.1259C>G c.1502G>C (p.Ser501Thr) | dbSNP COSMIC |
| 7 | g.55181312G= | CA1708905063 | EGFR,EGFR-AS1 | c.2144G= (p.Ser715=) c.652G= c.2303G= (p.Ser768=) c.*28+8384G= (n.*28+8384G=) c.2168G= (p.Ser723=) n.1259C= c.1502G= (p.Ser501=) | |
| 7 | g.55181312G>T | CA135840 | EGFR,EGFR-AS1 | c.2144G>T (p.Ser715Ile) c.652G>T c.2303G>T (p.Ser768Ile) c.*28+8384G>T (n.*28+8384G>T) c.2168G>T (p.Ser723Ile) n.1259C>A c.1502G>T (p.Ser501Ile) | ClinVar dbSNP COSMIC |
| 7 | g.55181312_55181313delinsGC | CA1708905076 | EGFR,EGFR-AS1 | c.2144_2145delinsGC (p.Ser715=) c.652_653delinsGC c.2303_2304delinsGC (p.Ser768=) c.*28+8384_*28+8385delinsGC (n.*28+8384_*28+8385delinsGC) c.2168_2169delinsGC (p.Ser723=) n.1258_1259delinsGC c.1502_1503delinsGC (p.Ser501=) | |
| 7 | g.55181312_55181313delinsTT | CA135843 | EGFR,EGFR-AS1 | c.2144_2145delinsTT (p.Ser715Ile) c.652_653delinsTT c.2303_2304delinsTT (p.Ser768Ile) c.*28+8384_*28+8385delinsTT (n.*28+8384_*28+8385delinsTT) c.2168_2169delinsTT (p.Ser723Ile) n.1258_1259delinsAA c.1502_1503delinsTT (p.Ser501Ile) | ClinVar dbSNP |
| 7 | g.55181312_55181314delinsGCG | CA1708905072 | EGFR,EGFR-AS1 | c.2144_2146delinsGCG (p.Ser715=) c.652_654delinsGCG c.2303_2305delinsGCG (p.Ser768=) c.*28+8384_*28+8386delinsGCG (n.*28+8384_*28+8386delinsGCG) c.2168_2170delinsGCG (p.Ser723=) n.1257_1259delinsCGC c.1502_1504delinsGCG (p.Ser501=) | |
| 7 | g.55181312_55181314delinsTCC | CA2580617381 | EGFR,EGFR-AS1 | c.2144_2146delinsTCC (p.Ser715_Val716delinsIleLeu) c.652_654delinsTCC c.2303_2305delinsTCC (p.Ser768_Val769delinsIleLeu) c.*28+8384_*28+8386delinsTCC (n.*28+8384_*28+8386delinsTCC) c.2168_2170delinsTCC (p.Ser723_Val724delinsIleLeu) n.1257_1259delinsGGA c.1502_1504delinsTCC (p.Ser501_Val502delinsIleLeu) | |
| 7 | g.55181312_55181314delinsTCT | CA645561565 | EGFR,EGFR-AS1 | c.2144_2146delinsTCT (p.Ser715_Val716delinsIleLeu) c.652_654delinsTCT c.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu) c.*28+8384_*28+8386delinsTCT (n.*28+8384_*28+8386delinsTCT) c.2168_2170delinsTCT (p.Ser723_Val724delinsIleLeu) n.1257_1259delinsAGA c.1502_1504delinsTCT (p.Ser501_Val502delinsIleLeu) | ClinVar dbSNP COSMIC |
| 7 | g.55181316_55181317insTGCGTG | CA645561566 | EGFR,EGFR-AS1 | c.2148_2149insTGCGTG (p.Val716_Asp717insCysVal) c.656_657insTGCGTG c.2307_2308insTGCGTG (p.Val769_Asp770insCysVal) c.*28+8388_*28+8389insTGCGTG (n.*28+8388_*28+8389insTGCGTG) c.2172_2173insTGCGTG (p.Val724_Asp725insCysVal) n.1259_1260insACACGC c.1506_1507insTGCGTG (p.Val502_Asp503insCysVal) | dbSNP COSMIC |
| 7 | g.55181312_55181313insGCGTGGACA | CA158928300 | EGFR,EGFR-AS1 | c.2144_2145insGCGTGGACA (p.Ser715delinsArgArgGlyHis) c.652_653insGCGTGGACA c.2303_2304insGCGTGGACA (p.Ser768delinsArgArgGlyHis) c.*28+8384_*28+8385insGCGTGGACA (n.*28+8384_*28+8385insGCGTGGACA) c.2168_2169insGCGTGGACA (p.Ser723delinsArgArgGlyHis) n.1258_1259insTGTCCACGC c.1502_1503insGCGTGGACA (p.Ser501delinsArgArgGlyHis) | dbSNP |
| 7 | g.55181312_55181313insTGTGGCCAA | CA645561569 | EGFR,EGFR-AS1 | c.2144_2145insTGTGGCCAA (p.Ser715_Val716insValAlaAsn) c.652_653insTGTGGCCAA c.2303_2304insTGTGGCCAA (p.Ser768_Val769insValAlaAsn) c.*28+8384_*28+8385insTGTGGCCAA (n.*28+8384_*28+8385insTGTGGCCAA) c.2168_2169insTGTGGCCAA (p.Ser723_Val724insValAlaAsn) n.1258_1259insTTGGCCACA c.1502_1503insTGTGGCCAA (p.Ser501_Val502insValAlaAsn) | dbSNP COSMIC |
| 7 | g.55181313C>A | CA367578606 | EGFR,EGFR-AS1 | c.2145C>A (p.Ser715Arg) c.653C>A c.2304C>A (p.Ser768Arg) c.*28+8385C>A (n.*28+8385C>A) c.2169C>A (p.Ser723Arg) n.1258G>T c.1503C>A (p.Ser501Arg) | ClinVar dbSNP |
| 7 | g.55181313C= | CA1708905098 | EGFR,EGFR-AS1 | c.2145C= (p.Ser715=) c.653C= c.2304C= (p.Ser768=) c.*28+8385C= (n.*28+8385C=) c.2169C= (p.Ser723=) n.1258G= c.1503C= (p.Ser501=) | |
| 7 | g.55181313C>G | CA367578605 | EGFR,EGFR-AS1 | c.2145C>G (p.Ser715Arg) c.653C>G c.2304C>G (p.Ser768Arg) c.*28+8385C>G (n.*28+8385C>G) c.2169C>G (p.Ser723Arg) n.1258G>C c.1503C>G (p.Ser501Arg) | dbSNP gnomAD v2 |
| 7 | g.55181313C>T | CA4266051 | EGFR,EGFR-AS1 | c.2145C>T (p.Ser715=) c.653C>T c.2304C>T (p.Ser768=) c.*28+8385C>T (n.*28+8385C>T) c.2169C>T (p.Ser723=) n.1258G>A c.1503C>T (p.Ser501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55181317_55181318insGGGTCGTGG | CA645561568 | EGFR,EGFR-AS1 | c.2149_2150insGGGTCGTGG (p.Val716_Asp717insGlyValVal) c.657_658insGGGTCGTGG c.2308_2309insGGGTCGTGG (p.Val769_Asp770insGlyValVal) c.*28+8389_*28+8390insGGGTCGTGG (n.*28+8389_*28+8390insGGGTCGTGG) c.2173_2174insGGGTCGTGG (p.Val724_Asp725insGlyValVal) n.1258_1259insACCCCCACG c.1507_1508insGGGTCGTGG (p.Val502_Asp503insGlyValVal) | dbSNP COSMIC |
| 7 | g.55181314_55181322dup | CA645561567 | EGFR,EGFR-AS1 | c.2146_2154dup (p.Asn718_Pro719insValAspAsn) c.654_662dup c.2305_2313dup (p.Asn771_Pro772insValAspAsn) c.*28+8386_*28+8394dup (n.*28+8386_*28+8394dup) c.2170_2178dup (p.Asn726_Pro727insValAspAsn) n.1250_1258dup c.1504_1512dup (p.Asn504_Pro505insValAspAsn) | dbSNP COSMIC |
| 7 | g.55181317_55181331dup | CA181058 | EGFR,EGFR-AS1 | c.2149_2163dup (p.Val721_Cys722insAspAsnProHisVal) c.657_671dup c.2308_2322dup (p.Val774_Cys775insAspAsnProHisVal) c.*28+8389_*28+8403dup (n.*28+8389_*28+8403dup) c.2173_2187dup (p.Val729_Cys730insAspAsnProHisVal) n.1244_1258dup c.1507_1521dup (p.Val507_Cys508insAspAsnProHisVal) | ClinVar dbSNP |
| 7 | g.55181314G>A | CA350947 | EGFR,EGFR-AS1 | c.2146G>A (p.Val716Met) c.654G>A c.2305G>A (p.Val769Met) c.*28+8386G>A (n.*28+8386G>A) c.2170G>A (p.Val724Met) n.1257C>T c.1504G>A (p.Val502Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55181314G>C | CA135847 | EGFR,EGFR-AS1 | c.2146G>C (p.Val716Leu) c.654G>C c.2305G>C (p.Val769Leu) c.*28+8386G>C (n.*28+8386G>C) c.2170G>C (p.Val724Leu) n.1257C>G c.1504G>C (p.Val502Leu) | ClinVar dbSNP |
| 7 | g.55181314G= | CA1708905112 | EGFR,EGFR-AS1 | c.2146G= (p.Val716=) c.654G= c.2305G= (p.Val769=) c.*28+8386G= (n.*28+8386G=) c.2170G= (p.Val724=) n.1257C= c.1504G= (p.Val502=) | |
| 7 | g.55181314G>T | CA135850 | EGFR,EGFR-AS1 | c.2146G>T (p.Val716Leu) c.654G>T c.2305G>T (p.Val769Leu) c.*28+8386G>T (n.*28+8386G>T) c.2170G>T (p.Val724Leu) n.1257C>A c.1504G>T (p.Val502Leu) | ClinVar dbSNP COSMIC |
| 7 | g.55181316_55181317insTGTGTG | CA2018007660 | EGFR,EGFR-AS1 | c.2148_2149insTGTGTG (p.Val716_Asp717insCysVal) c.656_657insTGTGTG c.2307_2308insTGTGTG (p.Val769_Asp770insCysVal) c.*28+8388_*28+8389insTGTGTG (n.*28+8388_*28+8389insTGTGTG) c.2172_2173insTGTGTG (p.Val724_Asp725insCysVal) n.1257_1258insACACAC c.1506_1507insTGTGTG (p.Val502_Asp503insCysVal) | |
| 7 | g.55181315_55181317dup | CA2714932002 | EGFR,EGFR-AS1 | c.2147_2149dup (p.Val716_Asp717insVal) c.655_657dup c.2306_2308dup (p.Val769_Asp770insVal) c.*28+8387_*28+8389dup (n.*28+8387_*28+8389dup) c.2171_2173dup (p.Val724_Asp725insVal) n.1255_1257dup c.1505_1507dup (p.Val502_Asp503insVal) | dbSNP |
| 7 | g.55181315T>A | CA367578615 | EGFR,EGFR-AS1 | c.2147T>A (p.Val716Glu) c.655T>A c.2306T>A (p.Val769Glu) c.*28+8387T>A (n.*28+8387T>A) c.2171T>A (p.Val724Glu) n.1256A>T c.1505T>A (p.Val502Glu) | |
| 7 | g.55181315T>C | CA367578616 | EGFR,EGFR-AS1 | c.2147T>C (p.Val716Ala) c.655T>C c.2306T>C (p.Val769Ala) c.*28+8387T>C (n.*28+8387T>C) c.2171T>C (p.Val724Ala) n.1256A>G c.1505T>C (p.Val502Ala) | COSMIC |
| 7 | g.55181315T>G | CA367578618 | EGFR,EGFR-AS1 | c.2147T>G (p.Val716Gly) c.655T>G c.2306T>G (p.Val769Gly) c.*28+8387T>G (n.*28+8387T>G) c.2171T>G (p.Val724Gly) n.1256A>C c.1505T>G (p.Val502Gly) | |
| 7 | g.55181315T= | CA1708905123 | EGFR,EGFR-AS1 | c.2147T= (p.Val716=) c.655T= c.2306T= (p.Val769=) c.*28+8387T= (n.*28+8387T=) c.2171T= (p.Val724=) n.1256A= c.1505T= (p.Val502=) | |
| 7 | g.55181316G>A | CA4266052 | EGFR,EGFR-AS1 | c.2148G>A (p.Val716=) c.656G>A c.2307G>A (p.Val769=) c.*28+8388G>A (n.*28+8388G>A) c.2172G>A (p.Val724=) n.1255C>T c.1506G>A (p.Val502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55181316G>C | CA455165083 | EGFR,EGFR-AS1 | c.2148G>C (p.Val716=) c.656G>C c.2307G>C (p.Val769=) c.*28+8388G>C (n.*28+8388G>C) c.2172G>C (p.Val724=) n.1255C>G c.1506G>C (p.Val502=) | |
| 7 | g.55181316G= | CA1708905135 | EGFR,EGFR-AS1 | c.2148G= (p.Val716=) c.656G= c.2307G= (p.Val769=) c.*28+8388G= (n.*28+8388G=) c.2172G= (p.Val724=) n.1255C= c.1506G= (p.Val502=) | |
| 7 | g.55181316G>T | CA455165082 | EGFR,EGFR-AS1 | c.2148G>T (p.Val716=) c.656G>T c.2307G>T (p.Val769=) c.*28+8388G>T (n.*28+8388G>T) c.2172G>T (p.Val724=) n.1255C>A c.1506G>T (p.Val502=) | dbSNP |
| 7 | g.55181316_55181319delinsGGAC | CA1708905134 | EGFR,EGFR-AS1 | c.2148_2151delinsGGAC (p.Val716=) c.656_659delinsGGAC c.2307_2310delinsGGAC (p.Val769=) c.*28+8388_*28+8391delinsGGAC (n.*28+8388_*28+8391delinsGGAC) c.2172_2175delinsGGAC (p.Val724=) n.1252_1255delinsGTCC c.1506_1509delinsGGAC (p.Val502=) | |
| 7 | g.55181319_55181320insGGGGAC | CA645561570 | EGFR,EGFR-AS1 | c.2151_2152insGGGGAC (p.Asp717_Asn718insGlyAsp) c.659_660insGGGGAC c.2310_2311insGGGGAC (p.Asp770_Asn771insGlyAsp) c.*28+8391_*28+8392insGGGGAC (n.*28+8391_*28+8392insGGGGAC) c.2175_2176insGGGGAC (p.Asp725_Asn726insGlyAsp) n.1255_1256insCCGTCC c.1509_1510insGGGGAC (p.Asp503_Asn504insGlyAsp) | dbSNP COSMIC |
| 7 | g.55181316_55181324dup | CA180579 | EGFR,EGFR-AS1 | c.2148_2156dup (p.Pro719_His720insAspAsnPro) c.656_664dup c.2307_2315dup (p.Pro772_His773insAspAsnPro) c.*28+8388_*28+8396dup (n.*28+8388_*28+8396dup) c.2172_2180dup (p.Pro727_His728insAspAsnPro) n.1247_1255dup c.1506_1514dup (p.Pro505_His506insAspAsnPro) | ClinVar dbSNP |
| 7 | g.55181316_55181317insATGGCCAGCGTGGAC | CA645561572 | EGFR,EGFR-AS1 | c.2148_2149insATGGCCAGCGTGGAC (p.Val716_Asp717insMetAlaSerValAsp) c.656_657insATGGCCAGCGTGGAC c.2307_2308insATGGCCAGCGTGGAC (p.Val769_Asp770insMetAlaSerValAsp) c.*28+8388_*28+8389insATGGCCAGCGTGGAC (n.*28+8388_*28+8389insATGGCCAGCGTGGAC) c.2172_2173insATGGCCAGCGTGGAC (p.Val724_Asp725insMetAlaSerValAsp) n.1254_1255insGTCCACGCTGGCCAT c.1506_1507insATGGCCAGCGTGGAC (p.Val502_Asp503insMetAlaSerValAsp) | dbSNP COSMIC |
| 7 | g.55181317G>A | CA367578627 | EGFR,EGFR-AS1 | c.2149G>A (p.Asp717Asn) c.657G>A c.2308G>A (p.Asp770Asn) c.*28+8389G>A (n.*28+8389G>A) c.2173G>A (p.Asp725Asn) n.1254C>T c.1507G>A (p.Asp503Asn) | ClinVar dbSNP COSMIC |
| 7 | g.55181317G>C | CA367578628 | EGFR,EGFR-AS1 | c.2149G>C (p.Asp717His) c.657G>C c.2308G>C (p.Asp770His) c.*28+8389G>C (n.*28+8389G>C) c.2173G>C (p.Asp725His) n.1254C>G c.1507G>C (p.Asp503His) | dbSNP |
| 7 | g.55181317G= | CA1708905145 | EGFR,EGFR-AS1 | c.2149G= (p.Asp717=) c.657G= c.2308G= (p.Asp770=) c.*28+8389G= (n.*28+8389G=) c.2173G= (p.Asp725=) n.1254C= c.1507G= (p.Asp503=) | |
| 7 | g.55181317G>T | CA367578624 | EGFR,EGFR-AS1 | c.2149G>T (p.Asp717Tyr) c.657G>T c.2308G>T (p.Asp770Tyr) c.*28+8389G>T (n.*28+8389G>T) c.2173G>T (p.Asp725Tyr) n.1254C>A c.1507G>T (p.Asp503Tyr) | dbSNP |
| 7 | g.55181318_55181319insGCGTGGAGA | CA645561574 | EGFR,EGFR-AS1 | c.2150_2151insGCGTGGAGA (p.Val716_Asp717insGluArgGly) c.658_659insGCGTGGAGA c.2309_2310insGCGTGGAGA (p.Val769_Asp770insGluArgGly) c.*28+8390_*28+8391insGCGTGGAGA (n.*28+8390_*28+8391insGCGTGGAGA) c.2174_2175insGCGTGGAGA (p.Val724_Asp725insGluArgGly) n.1254_1255insTCCACGCTC c.1508_1509insGCGTGGAGA (p.Val502_Asp503insGluArgGly) | dbSNP COSMIC |