| 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.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.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.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.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.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) | ClinVar 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 |
| 7 | g.55181317_55181319delinsTGGG | CA176010 | EGFR,EGFR-AS1 | c.2149_2151delinsTGGG (p.Asp717TrpfsTer?) c.657_659delinsTGGG c.2308_2310delinsTGGG (p.Asp770TrpfsTer?) c.*28+8389_*28+8391delinsTGGG (n.*28+8389_*28+8391delinsTGGG) c.2173_2175delinsTGGG (p.Asp725TrpfsTer?) n.1252_1254delinsCCCA c.1507_1509delinsTGGG (p.Asp503TrpfsTer?) | ClinVar dbSNP |
| 7 | g.55181319_55181320insGGCGAC | CA645561573 | EGFR,EGFR-AS1 | c.2151_2152insGGCGAC (p.Asp717_Asn718insGlyAsp) c.659_660insGGCGAC c.2310_2311insGGCGAC (p.Asp770_Asn771insGlyAsp) c.*28+8391_*28+8392insGGCGAC (n.*28+8391_*28+8392insGGCGAC) c.2175_2176insGGCGAC (p.Asp725_Asn726insGlyAsp) n.1254_1255insGCCGTC c.1509_1510insGGCGAC (p.Asp503_Asn504insGlyAsp) | dbSNP COSMIC |
| 7 | g.55181317_55181324delinsCCAGCGTGGATAACCG | CA645561571 | EGFR,EGFR-AS1 | c.2149_2156delinsCCAGCGTGGATAACCG (p.Asp717ProfsTer?) c.657_664delinsCCAGCGTGGATAACCG c.2308_2315delinsCCAGCGTGGATAACCG (p.Asp770ProfsTer?) c.*28+8389_*28+8396delinsCCAGCGTGGATAACCG (n.*28+8389_*28+8396delinsCCAGCGTGGATAACCG) c.2173_2180delinsCCAGCGTGGATAACCG (p.Asp725ProfsTer?) n.1247_1254delinsCGGTTATCCACGCTGG c.1507_1514delinsCCAGCGTGGATAACCG (p.Asp503ProfsTer?) | COSMIC |
| 7 | g.55181317_55181325dup | CA645561575 | EGFR,EGFR-AS1 | c.2149_2157dup (p.Pro719_His720insAspAsnPro) c.657_665dup c.2308_2316dup (p.Pro772_His773insAspAsnPro) c.*28+8389_*28+8397dup (n.*28+8389_*28+8397dup) c.2173_2181dup (p.Pro727_His728insAspAsnPro) n.1246_1254dup c.1507_1515dup (p.Pro505_His506insAspAsnPro) | dbSNP COSMIC |
| 7 | g.55181317_55181318insGTT | CA180585 | EGFR,EGFR-AS1 | c.2149_2150insGTT (p.Asp717delinsGlyTyr) c.657_658insGTT c.2308_2309insGTT (p.Asp770delinsGlyTyr) c.*28+8389_*28+8390insGTT (n.*28+8389_*28+8390insGTT) c.2173_2174insGTT (p.Asp725delinsGlyTyr) n.1253_1254insAAC c.1507_1508insGTT (p.Asp503delinsGlyTyr) | ClinVar dbSNP COSMIC |
| 7 | g.55181318A= | CA1708905168 | EGFR,EGFR-AS1 | c.2150A= (p.Asp717=) c.658A= c.2309A= (p.Asp770=) c.*28+8390A= (n.*28+8390A=) c.2174A= (p.Asp725=) n.1253T= c.1508A= (p.Asp503=) | |
| 7 | g.55181318A>C | CA367578638 | EGFR,EGFR-AS1 | c.2150A>C (p.Asp717Ala) c.658A>C c.2309A>C (p.Asp770Ala) c.*28+8390A>C (n.*28+8390A>C) c.2174A>C (p.Asp725Ala) n.1253T>G c.1508A>C (p.Asp503Ala) | dbSNP |
| 7 | g.55181318A>G | CA367578640 | EGFR,EGFR-AS1 | c.2150A>G (p.Asp717Gly) c.658A>G c.2309A>G (p.Asp770Gly) c.*28+8390A>G (n.*28+8390A>G) c.2174A>G (p.Asp725Gly) n.1253T>C c.1508A>G (p.Asp503Gly) | dbSNP gnomAD v4 |
| 7 | g.55181318A>T | CA367578642 | EGFR,EGFR-AS1 | c.2150A>T (p.Asp717Val) c.658A>T c.2309A>T (p.Asp770Val) c.*28+8390A>T (n.*28+8390A>T) c.2174A>T (p.Asp725Val) n.1253T>A c.1508A>T (p.Asp503Val) | dbSNP |
| 7 | g.55181318_55181319delinsGCACG | CA2573051062 | EGFR,EGFR-AS1 | c.2150_2151delinsGCACG (p.Asp717delinsGlyThr) c.658_659delinsGCACG c.2309_2310delinsGCACG (p.Asp770delinsGlyThr) c.*28+8390_*28+8391delinsGCACG (n.*28+8390_*28+8391delinsGCACG) c.2174_2175delinsGCACG (p.Asp725delinsGlyThr) n.1252_1253delinsCGTGC c.1508_1509delinsGCACG (p.Asp503delinsGlyThr) | |
| 7 | g.55181318_55181319delinsCCAGCGTGGAT | CA645561579 | EGFR,EGFR-AS1 | c.2150_2151delinsCCAGCGTGGAT (p.Val716_Asp717insAlaSerVal) c.658_659delinsCCAGCGTGGAT c.2309_2310delinsCCAGCGTGGAT (p.Val769_Asp770insAlaSerVal) c.*28+8390_*28+8391delinsCCAGCGTGGAT (n.*28+8390_*28+8391delinsCCAGCGTGGAT) c.2174_2175delinsCCAGCGTGGAT (p.Val724_Asp725insAlaSerVal) n.1252_1253delinsATCCACGCTGG c.1508_1509delinsCCAGCGTGGAT (p.Val502_Asp503insAlaSerVal) | dbSNP COSMIC |
| 7 | g.55181319_55181320insTAC | CA645561577 | EGFR,EGFR-AS1 | c.2151_2152insTAC (p.Asp717_Asn718insTyr) c.659_660insTAC c.2310_2311insTAC (p.Asp770_Asn771insTyr) c.*28+8391_*28+8392insTAC (n.*28+8391_*28+8392insTAC) c.2175_2176insTAC (p.Asp725_Asn726insTyr) n.1253_1254insAGT c.1509_1510insTAC (p.Asp503_Asn504insTyr) | dbSNP COSMIC |
| 7 | g.55181318_55181321delinsCTGGTGG | CA645561578 | EGFR,EGFR-AS1 | c.2150_2153delinsCTGGTGG (p.Asp717_Asn718delinsAlaGlyGly) c.658_661delinsCTGGTGG c.2309_2312delinsCTGGTGG (p.Asp770_Asn771delinsAlaGlyGly) c.*28+8390_*28+8393delinsCTGGTGG (n.*28+8390_*28+8393delinsCTGGTGG) c.2174_2177delinsCTGGTGG (p.Asp725_Asn726delinsAlaGlyGly) n.1250_1253delinsCCACCAG c.1508_1511delinsCTGGTGG (p.Asp503_Asn504delinsAlaGlyGly) | dbSNP COSMIC |
| 7 | g.55181320_55181322dup | CA645561576 | EGFR,EGFR-AS1 | c.2152_2154dup (p.Asn718_Pro719insAsn) c.660_662dup c.2311_2313dup (p.Asn771_Pro772insAsn) c.*28+8392_*28+8394dup (n.*28+8392_*28+8394dup) c.2176_2178dup (p.Asn726_Pro727insAsn) n.1251_1253dup c.1510_1512dup (p.Asn504_Pro505insAsn) | dbSNP COSMIC COSMIC |
| 7 | g.55181320_55181328dup | CA180983 | EGFR,EGFR-AS1 | c.2152_2160dup (p.His720_Val721insAsnProHis) c.660_668dup c.2311_2319dup (p.His773_Val774insAsnProHis) c.*28+8392_*28+8400dup (n.*28+8392_*28+8400dup) c.2176_2184dup (p.His728_Val729insAsnProHis) n.1245_1253dup c.1510_1518dup (p.His506_Val507insAsnProHis) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.55181318_55181319insGTC | CA658795342 | EGFR,EGFR-AS1 | c.2150_2151insGTC (p.Asp717delinsGluSer) c.658_659insGTC c.2309_2310insGTC (p.Asp770delinsGluSer) c.*28+8390_*28+8391insGTC (n.*28+8390_*28+8391insGTC) c.2174_2175insGTC (p.Asp725delinsGluSer) n.1252_1253insGAC c.1508_1509insGTC (p.Asp503delinsGluSer) | ClinVar dbSNP |
| 7 | g.55181319C>A | CA367578648 | EGFR,EGFR-AS1 | c.2151C>A (p.Asp717Glu) c.659C>A c.2310C>A (p.Asp770Glu) c.*28+8391C>A (n.*28+8391C>A) c.2175C>A (p.Asp725Glu) n.1252G>T c.1509C>A (p.Asp503Glu) | ClinVar dbSNP |
| 7 | g.55181319C= | CA1708905179 | EGFR,EGFR-AS1 | c.2151C= (p.Asp717=) c.659C= c.2310C= (p.Asp770=) c.*28+8391C= (n.*28+8391C=) c.2175C= (p.Asp725=) n.1252G= c.1509C= (p.Asp503=) | |
| 7 | g.55181319C>G | CA367578646 | EGFR,EGFR-AS1 | c.2151C>G (p.Asp717Glu) c.659C>G c.2310C>G (p.Asp770Glu) c.*28+8391C>G (n.*28+8391C>G) c.2175C>G (p.Asp725Glu) n.1252G>C c.1509C>G (p.Asp503Glu) | |
| 7 | g.55181319C>T | CA135851 | EGFR,EGFR-AS1 | c.2151C>T (p.Asp717=) c.659C>T c.2310C>T (p.Asp770=) c.*28+8391C>T (n.*28+8391C>T) c.2175C>T (p.Asp725=) n.1252G>A c.1509C>T (p.Asp503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55181319_55181320insGGC | CA645561584 | EGFR,EGFR-AS1 | c.2151_2152insGGC (p.Asp717_Asn718insGly) c.659_660insGGC c.2310_2311insGGC (p.Asp770_Asn771insGly) c.*28+8391_*28+8392insGGC (n.*28+8391_*28+8392insGGC) c.2175_2176insGGC (p.Asp725_Asn726insGly) n.1252_1253insCCG c.1509_1510insGGC (p.Asp503_Asn504insGly) | dbSNP COSMIC |