| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55174751_55174768dup | CA645550319 | EGFR | c.2055_2072dup (p.Ile691_Lys692insLysIleProValAlaIle) c.563_580dup c.2214_2231dup (p.Ile744_Lys745insLysIleProValAlaIle) c.*28+1823_*28+1840dup (n.*28+1823_*28+1840dup) c.2079_2096dup (p.Ile699_Lys700insLysIleProValAlaIle) c.1413_1430dup (p.Ile477_Lys478insLysIleProValAlaIle) | dbSNP COSMIC COSMIC |
| 7 | g.55174755del | CA645550320 | EGFR | c.2059del (p.Ile687PhefsTer8) c.567del c.2218del (p.Ile740PhefsTer8) c.*28+1827del (n.*28+1827del) c.2083del (p.Ile695PhefsTer8) c.1417del (p.Ile473PhefsTer8) | gnomAD v4 COSMIC |
| 7 | g.55174754_55174771dup | CA135785 | EGFR | c.2058_2075dup (p.Lys692_Glu693insIleProValAlaIleLys) c.566_583dup c.2217_2234dup (p.Lys745_Glu746insIleProValAlaIleLys) c.*28+1826_*28+1843dup (n.*28+1826_*28+1843dup) c.2082_2099dup (p.Lys700_Glu701insIleProValAlaIleLys) c.1416_1433dup (p.Lys478_Glu479insIleProValAlaIleLys) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.55174754A= | CA1708918293 | EGFR | c.2058A= (p.Lys686=) c.566A= c.2217A= (p.Lys739=) c.*28+1826A= (n.*28+1826A=) c.2082A= (p.Lys694=) c.1416A= (p.Lys472=) | |
| 7 | g.55174754A>C | CA367584075 | EGFR | c.2058A>C (p.Lys686Asn) c.566A>C c.2217A>C (p.Lys739Asn) c.*28+1826A>C (n.*28+1826A>C) c.2082A>C (p.Lys694Asn) c.1416A>C (p.Lys472Asn) | |
| 7 | g.55174754A>G | CA454979363 | EGFR | c.2058A>G (p.Lys686=) c.566A>G c.2217A>G (p.Lys739=) c.*28+1826A>G (n.*28+1826A>G) c.2082A>G (p.Lys694=) c.1416A>G (p.Lys472=) | |
| 7 | g.55174754A>T | CA4266013 | EGFR | c.2058A>T (p.Lys686Asn) c.566A>T c.2217A>T (p.Lys739Asn) c.*28+1826A>T (n.*28+1826A>T) c.2082A>T (p.Lys694Asn) c.1416A>T (p.Lys472Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55174755A= | CA1708918294 | EGFR | c.2059A= (p.Ile687=) c.567A= c.2218A= (p.Ile740=) c.*28+1827A= (n.*28+1827A=) c.2083A= (p.Ile695=) c.1417A= (p.Ile473=) | |
| 7 | g.55174755A>C | CA367584078 | EGFR | c.2059A>C (p.Ile687Leu) c.567A>C c.2218A>C (p.Ile740Leu) c.*28+1827A>C (n.*28+1827A>C) c.2083A>C (p.Ile695Leu) c.1417A>C (p.Ile473Leu) | ClinVar dbSNP |
| 7 | g.55174755A>G | CA4266014 | EGFR | c.2059A>G (p.Ile687Val) c.567A>G c.2218A>G (p.Ile740Val) c.*28+1827A>G (n.*28+1827A>G) c.2083A>G (p.Ile695Val) c.1417A>G (p.Ile473Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.55174755A>T | CA367584081 | EGFR | c.2059A>T (p.Ile687Phe) c.567A>T c.2218A>T (p.Ile740Phe) c.*28+1827A>T (n.*28+1827A>T) c.2083A>T (p.Ile695Phe) c.1417A>T (p.Ile473Phe) | dbSNP |
| 7 | g.55174755_55174772dup | CA645550321 | EGFR | c.2059_2076dup (p.Lys692_Glu693insIleProValAlaIleLys) c.567_584dup c.2218_2235dup (p.Lys745_Glu746insIleProValAlaIleLys) c.*28+1827_*28+1844dup (n.*28+1827_*28+1844dup) c.2083_2100dup (p.Lys700_Glu701insIleProValAlaIleLys) c.1417_1434dup (p.Lys478_Glu479insIleProValAlaIleLys) | COSMIC |
| 7 | g.55174756T>A | CA367584083 | EGFR | c.2060T>A (p.Ile687Asn) c.568T>A c.2219T>A (p.Ile740Asn) c.*28+1828T>A (n.*28+1828T>A) c.2084T>A (p.Ile695Asn) c.1418T>A (p.Ile473Asn) | dbSNP |
| 7 | g.55174756T>C | CA135788 | EGFR | c.2060T>C (p.Ile687Thr) c.568T>C c.2219T>C (p.Ile740Thr) c.*28+1828T>C (n.*28+1828T>C) c.2084T>C (p.Ile695Thr) c.1418T>C (p.Ile473Thr) | ClinVar dbSNP COSMIC |
| 7 | g.55174756T>G | CA367584086 | EGFR | c.2060T>G (p.Ile687Ser) c.568T>G c.2219T>G (p.Ile740Ser) c.*28+1828T>G (n.*28+1828T>G) c.2084T>G (p.Ile695Ser) c.1418T>G (p.Ile473Ser) | dbSNP |
| 7 | g.55174756T= | CA1708918295 | EGFR | c.2060T= (p.Ile687=) c.568T= c.2219T= (p.Ile740=) c.*28+1828T= (n.*28+1828T=) c.2084T= (p.Ile695=) c.1418T= (p.Ile473=) | |
| 7 | g.55174756_55174773dup | CA645550322 | EGFR | c.2060_2077dup (p.Lys692_Glu693insValProValAlaIleLys) c.568_585dup c.2219_2236dup (p.Lys745_Glu746insValProValAlaIleLys) c.*28+1828_*28+1845dup (n.*28+1828_*28+1845dup) c.2084_2101dup (p.Lys700_Glu701insValProValAlaIleLys) c.1418_1435dup (p.Lys478_Glu479insValProValAlaIleLys) | dbSNP COSMIC |
| 7 | g.55174757T>A | CA454979373 | EGFR | c.2061T>A (p.Ile687=) c.569T>A c.2220T>A (p.Ile740=) c.*28+1829T>A (n.*28+1829T>A) c.2085T>A (p.Ile695=) c.1419T>A (p.Ile473=) | dbSNP |
| 7 | g.55174757T>C | CA4266015 | EGFR | c.2061T>C (p.Ile687=) c.569T>C c.2220T>C (p.Ile740=) c.*28+1829T>C (n.*28+1829T>C) c.2085T>C (p.Ile695=) c.1419T>C (p.Ile473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55174757T>G | CA367584088 | EGFR | c.2061T>G (p.Ile687Met) c.569T>G c.2220T>G (p.Ile740Met) c.*28+1829T>G (n.*28+1829T>G) c.2085T>G (p.Ile695Met) c.1419T>G (p.Ile473Met) | |
| 7 | g.55174757T= | CA1708918296 | EGFR | c.2061T= (p.Ile687=) c.569T= c.2220T= (p.Ile740=) c.*28+1829T= (n.*28+1829T=) c.2085T= (p.Ile695=) c.1419T= (p.Ile473=) | |
| 7 | g.55174771_55174772insAACTCCCGTCGCTATCAA | CA645550323 | EGFR | c.2075_2076insAACTCCCGTCGCTATCAA (p.Lys692_Glu693insThrProValAlaIleLys) c.583_584insAACTCCCGTCGCTATCAA c.2234_2235insAACTCCCGTCGCTATCAA (p.Lys745_Glu746insThrProValAlaIleLys) c.*28+1843_*28+1844insAACTCCCGTCGCTATCAA (n.*28+1843_*28+1844insAACTCCCGTCGCTATCAA) c.2099_2100insAACTCCCGTCGCTATCAA (p.Lys700_Glu701insThrProValAlaIleLys) c.1433_1434insAACTCCCGTCGCTATCAA (p.Lys478_Glu479insThrProValAlaIleLys) | dbSNP COSMIC |
| 7 | g.55174758C>A | CA367584091 | EGFR | c.2062C>A (p.Pro688Thr) c.570C>A c.2221C>A (p.Pro741Thr) c.*28+1830C>A (n.*28+1830C>A) c.2086C>A (p.Pro696Thr) c.1420C>A (p.Pro474Thr) | dbSNP |
| 7 | g.55174758C>G | CA367584092 | EGFR | c.2062C>G (p.Pro688Ala) c.570C>G c.2221C>G (p.Pro741Ala) c.*28+1830C>G (n.*28+1830C>G) c.2086C>G (p.Pro696Ala) c.1420C>G (p.Pro474Ala) | dbSNP |
| 7 | g.55174758C>T | CA367584094 | EGFR | c.2062C>T (p.Pro688Ser) c.570C>T c.2221C>T (p.Pro741Ser) c.*28+1830C>T (n.*28+1830C>T) c.2086C>T (p.Pro696Ser) c.1420C>T (p.Pro474Ser) | dbSNP COSMIC |
| 7 | g.55174759C>A | CA367584098 | EGFR | c.2063C>A (p.Pro688His) c.571C>A c.2222C>A (p.Pro741His) c.*28+1831C>A (n.*28+1831C>A) c.2087C>A (p.Pro696His) c.1421C>A (p.Pro474His) | dbSNP |
| 7 | g.55174759C>G | CA367584100 | EGFR | c.2063C>G (p.Pro688Arg) c.571C>G c.2222C>G (p.Pro741Arg) c.*28+1831C>G (n.*28+1831C>G) c.2087C>G (p.Pro696Arg) c.1421C>G (p.Pro474Arg) | dbSNP |
| 7 | g.55174759C>T | CA367584097 | EGFR | c.2063C>T (p.Pro688Leu) c.571C>T c.2222C>T (p.Pro741Leu) c.*28+1831C>T (n.*28+1831C>T) c.2087C>T (p.Pro696Leu) c.1421C>T (p.Pro474Leu) | ClinVar dbSNP COSMIC |
| 7 | g.55174760C>A | CA4266017 | EGFR | c.2064C>A (p.Pro688=) c.572C>A c.2223C>A (p.Pro741=) c.*28+1832C>A (n.*28+1832C>A) c.2088C>A (p.Pro696=) c.1422C>A (p.Pro474=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55174760C= | CA1708918297 | EGFR | c.2064C= (p.Pro688=) c.572C= c.2223C= (p.Pro741=) c.*28+1832C= (n.*28+1832C=) c.2088C= (p.Pro696=) c.1422C= (p.Pro474=) | |
| 7 | g.55174760C>G | CA454979384 | EGFR | c.2064C>G (p.Pro688=) c.572C>G c.2223C>G (p.Pro741=) c.*28+1832C>G (n.*28+1832C>G) c.2088C>G (p.Pro696=) c.1422C>G (p.Pro474=) | dbSNP |
| 7 | g.55174760C>T | CA4266016 | EGFR | c.2064C>T (p.Pro688=) c.572C>T c.2223C>T (p.Pro741=) c.*28+1832C>T (n.*28+1832C>T) c.2088C>T (p.Pro696=) c.1422C>T (p.Pro474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55174761G>A | CA158456 | EGFR | c.2065G>A (p.Val689Ile) c.573G>A c.2224G>A (p.Val742Ile) c.*28+1833G>A (n.*28+1833G>A) c.2089G>A (p.Val697Ile) c.1423G>A (p.Val475Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55174761G>C | CA367584104 | EGFR | c.2065G>C (p.Val689Leu) c.573G>C c.2224G>C (p.Val742Leu) c.*28+1833G>C (n.*28+1833G>C) c.2089G>C (p.Val697Leu) c.1423G>C (p.Val475Leu) | dbSNP |
| 7 | g.55174761G= | CA1708918298 | EGFR | c.2065G= (p.Val689=) c.573G= c.2224G= (p.Val742=) c.*28+1833G= (n.*28+1833G=) c.2089G= (p.Val697=) c.1423G= (p.Val475=) | |
| 7 | g.55174761G>T | CA367584106 | EGFR | c.2065G>T (p.Val689Phe) c.573G>T c.2224G>T (p.Val742Phe) c.*28+1833G>T (n.*28+1833G>T) c.2089G>T (p.Val697Phe) c.1423G>T (p.Val475Phe) | dbSNP |
| 7 | g.55174762T>A | CA367584110 | EGFR | c.2066T>A (p.Val689Asp) c.574T>A c.2225T>A (p.Val742Asp) c.*28+1834T>A (n.*28+1834T>A) c.2090T>A (p.Val697Asp) c.1424T>A (p.Val475Asp) | dbSNP |
| 7 | g.55174762T>C | CA16602541 | EGFR | c.2066T>C (p.Val689Ala) c.574T>C c.2225T>C (p.Val742Ala) c.*28+1834T>C (n.*28+1834T>C) c.2090T>C (p.Val697Ala) c.1424T>C (p.Val475Ala) | ClinVar dbSNP COSMIC |
| 7 | g.55174762T>G | CA367584112 | EGFR | c.2066T>G (p.Val689Gly) c.574T>G c.2225T>G (p.Val742Gly) c.*28+1834T>G (n.*28+1834T>G) c.2090T>G (p.Val697Gly) c.1424T>G (p.Val475Gly) | dbSNP |
| 7 | g.55174762T= | CA1708918299 | EGFR | c.2066T= (p.Val689=) c.574T= c.2225T= (p.Val742=) c.*28+1834T= (n.*28+1834T=) c.2090T= (p.Val697=) c.1424T= (p.Val475=) | |
| 7 | g.55174763C>A | CA454979393 | EGFR | c.2067C>A (p.Val689=) c.575C>A c.2226C>A (p.Val742=) c.*28+1835C>A (n.*28+1835C>A) c.2091C>A (p.Val697=) c.1425C>A (p.Val475=) | dbSNP |
| 7 | g.55174763C= | CA1708918300 | EGFR | c.2067C= (p.Val689=) c.575C= c.2226C= (p.Val742=) c.*28+1835C= (n.*28+1835C=) c.2091C= (p.Val697=) c.1425C= (p.Val475=) | |
| 7 | g.55174763C>G | CA454979394 | EGFR | c.2067C>G (p.Val689=) c.575C>G c.2226C>G (p.Val742=) c.*28+1835C>G (n.*28+1835C>G) c.2091C>G (p.Val697=) c.1425C>G (p.Val475=) | dbSNP |
| 7 | g.55174763C>T | CA4266018 | EGFR | c.2067C>T (p.Val689=) c.575C>T c.2226C>T (p.Val742=) c.*28+1835C>T (n.*28+1835C>T) c.2091C>T (p.Val697=) c.1425C>T (p.Val475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55174764G>A | CA4266019 | EGFR | c.2068G>A (p.Ala690Thr) c.576G>A c.2227G>A (p.Ala743Thr) c.*28+1836G>A (n.*28+1836G>A) c.2092G>A (p.Ala698Thr) c.1426G>A (p.Ala476Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55174764G>C | CA367584117 | EGFR | c.2068G>C (p.Ala690Pro) c.576G>C c.2227G>C (p.Ala743Pro) c.*28+1836G>C (n.*28+1836G>C) c.2092G>C (p.Ala698Pro) c.1426G>C (p.Ala476Pro) | dbSNP |
| 7 | g.55174764G= | CA1708918301 | EGFR | c.2068G= (p.Ala690=) c.576G= c.2227G= (p.Ala743=) c.*28+1836G= (n.*28+1836G=) c.2092G= (p.Ala698=) c.1426G= (p.Ala476=) | |
| 7 | g.55174764G>T | CA367584119 | EGFR | c.2068G>T (p.Ala690Ser) c.576G>T c.2227G>T (p.Ala743Ser) c.*28+1836G>T (n.*28+1836G>T) c.2092G>T (p.Ala698Ser) c.1426G>T (p.Ala476Ser) | dbSNP |
| 7 | g.55174765C>A | CA367584121 | EGFR | c.2069C>A (p.Ala690Asp) c.577C>A c.2228C>A (p.Ala743Asp) c.*28+1837C>A (n.*28+1837C>A) c.2093C>A (p.Ala698Asp) c.1427C>A (p.Ala476Asp) | dbSNP |
| 7 | g.55174765C>G | CA367584123 | EGFR | c.2069C>G (p.Ala690Gly) c.577C>G c.2228C>G (p.Ala743Gly) c.*28+1837C>G (n.*28+1837C>G) c.2093C>G (p.Ala698Gly) c.1427C>G (p.Ala476Gly) | dbSNP |