Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39724737_39724738insGTGGCATACGTG | CA2733614899 | ERBB2 | c.2319_2320insGTGGCATACGTG (p.Val773_Met774insValAlaTyrVal) c.2229_2230insGTGGCATACGTG (p.Val743_Met744insValAlaTyrVal) c.1491_1492insGTGGCATACGTG (p.Val497_Met498insValAlaTyrVal) c.2274_2275insGTGGCATACGTG (p.Val758_Met759insValAlaTyrVal) c.*2109_*2110insGTGGCATACGTG (n.*2109_*2110insGTGGCATACGTG) c.425_426insGTGGCATACGTG n.3453_3454insGTGGCATACGTG n.2643_2644insGTGGCATACGTG c.2457_2458insGTGGCATACGTG (p.Val819_Met820insValAlaTyrVal) c.2412_2413insGTGGCATACGTG (p.Val804_Met805insValAlaTyrVal) c.2367_2368insGTGGCATACGTG (p.Val789_Met790insValAlaTyrVal) c.2436_2437insGTGGCATACGTG (p.Val812_Met813insValAlaTyrVal) c.2421_2422insGTGGCATACGTG (p.Val807_Met808insValAlaTyrVal) c.2400_2401insGTGGCATACGTG (p.Val800_Met801insValAlaTyrVal) c.2394_2395insGTGGCATACGTG (p.Val798_Met799insValAlaTyrVal) c.2349_2350insGTGGCATACGTG (p.Val783_Met784insValAlaTyrVal) c.2340_2341insGTGGCATACGTG (p.Val780_Met781insValAlaTyrVal) c.2316_2317insGTGGCATACGTG (p.Val772_Met773insValAlaTyrVal) c.2310_2311insGTGGCATACGTG (p.Val770_Met771insValAlaTyrVal) c.2283_2284insGTGGCATACGTG (p.Val761_Met762insValAlaTyrVal) c.2277_2278insGTGGCATACGTG (p.Val759_Met760insValAlaTyrVal) c.2271_2272insGTGGCATACGTG (p.Val757_Met758insValAlaTyrVal) c.2220_2221insGTGGCATACGTG (p.Val740_Met741insValAlaTyrVal) c.2139_2140insGTGGCATACGTG (p.Val713_Met714insValAlaTyrVal) c.2308-312_2308-311insGTGGCATACGTG (n.2308-312_2308-311insGTGGCATACGTG) c.2061_2062insGTGGCATACGTG (p.Val687_Met688insValAlaTyrVal) c.2208+1077_2208+1078insGTGGCATACGTG (n.2208+1077_2208+1078insGTGGCATACGTG) c.1281_1282insGTGGCATACGTG (p.Val427_Met428insValAlaTyrVal) n.2557_2558insGTGGCATACGTG | dbSNP |
17 | g.39724731_39724742dup | CA123573 | ERBB2 | c.2313_2324dup (p.Ala775_Gly776insTyrValMetAla) c.2223_2234dup (p.Ala745_Gly746insTyrValMetAla) c.1485_1496dup (p.Ala499_Gly500insTyrValMetAla) c.2268_2279dup (p.Ala760_Gly761insTyrValMetAla) c.*2103_*2114dup (n.*2103_*2114dup) c.419_430dup n.3447_3458dup n.2637_2648dup c.2451_2462dup (p.Ala821_Gly822insTyrValMetAla) c.2406_2417dup (p.Ala806_Gly807insTyrValMetAla) c.2361_2372dup (p.Ala791_Gly792insTyrValMetAla) c.2430_2441dup (p.Ala814_Gly815insTyrValMetAla) c.2415_2426dup (p.Ala809_Gly810insTyrValMetAla) c.2394_2405dup (p.Ala802_Gly803insTyrValMetAla) c.2388_2399dup (p.Ala800_Gly801insTyrValMetAla) c.2343_2354dup (p.Ala785_Gly786insTyrValMetAla) c.2334_2345dup (p.Ala782_Gly783insTyrValMetAla) c.2310_2321dup (p.Ala774_Gly775insTyrValMetAla) c.2304_2315dup (p.Ala772_Gly773insTyrValMetAla) c.2277_2288dup (p.Ala763_Gly764insTyrValMetAla) c.2271_2282dup (p.Ala761_Gly762insTyrValMetAla) c.2265_2276dup (p.Ala759_Gly760insTyrValMetAla) c.2214_2225dup (p.Ala742_Gly743insTyrValMetAla) c.2133_2144dup (p.Ala715_Gly716insTyrValMetAla) c.2308-318_2308-307dup (n.2308-318_2308-307dup) c.2055_2066dup (p.Ala689_Gly690insTyrValMetAla) c.2208+1071_2208+1082dup (n.2208+1071_2208+1082dup) c.1275_1286dup (p.Ala429_Gly430insTyrValMetAla) n.2551_2562dup | ClinVar dbSNP COSMIC COSMIC |
17 | g.39724732_39724743dup | CA135369 | ERBB2 | c.2314_2325dup (p.Ala775_Gly776insTyrValMetAla) c.2224_2235dup (p.Ala745_Gly746insTyrValMetAla) c.1486_1497dup (p.Ala499_Gly500insTyrValMetAla) c.2269_2280dup (p.Ala760_Gly761insTyrValMetAla) c.*2104_*2115dup (n.*2104_*2115dup) c.420_431dup n.3448_3459dup n.2638_2649dup c.2452_2463dup (p.Ala821_Gly822insTyrValMetAla) c.2407_2418dup (p.Ala806_Gly807insTyrValMetAla) c.2362_2373dup (p.Ala791_Gly792insTyrValMetAla) c.2431_2442dup (p.Ala814_Gly815insTyrValMetAla) c.2416_2427dup (p.Ala809_Gly810insTyrValMetAla) c.2395_2406dup (p.Ala802_Gly803insTyrValMetAla) c.2389_2400dup (p.Ala800_Gly801insTyrValMetAla) c.2344_2355dup (p.Ala785_Gly786insTyrValMetAla) c.2335_2346dup (p.Ala782_Gly783insTyrValMetAla) c.2311_2322dup (p.Ala774_Gly775insTyrValMetAla) c.2305_2316dup (p.Ala772_Gly773insTyrValMetAla) c.2278_2289dup (p.Ala763_Gly764insTyrValMetAla) c.2272_2283dup (p.Ala761_Gly762insTyrValMetAla) c.2266_2277dup (p.Ala759_Gly760insTyrValMetAla) c.2215_2226dup (p.Ala742_Gly743insTyrValMetAla) c.2134_2145dup (p.Ala715_Gly716insTyrValMetAla) c.2308-317_2308-306dup (n.2308-317_2308-306dup) c.2056_2067dup (p.Ala689_Gly690insTyrValMetAla) c.2208+1072_2208+1083dup (n.2208+1072_2208+1083dup) c.1276_1287dup (p.Ala429_Gly430insTyrValMetAla) n.2552_2563dup | ClinVar dbSNP COSMIC |
17 | g.39724742_39724743insCACCGTGATGGC | CA2825000799 | ERBB2 | c.2324_2325insCACCGTGATGGC (p.Ala775_Gly776insThrValMetAla) c.2234_2235insCACCGTGATGGC (p.Ala745_Gly746insThrValMetAla) c.1496_1497insCACCGTGATGGC (p.Ala499_Gly500insThrValMetAla) c.2279_2280insCACCGTGATGGC (p.Ala760_Gly761insThrValMetAla) c.*2114_*2115insCACCGTGATGGC (n.*2114_*2115insCACCGTGATGGC) c.430_431insCACCGTGATGGC n.3458_3459insCACCGTGATGGC n.2648_2649insCACCGTGATGGC c.2462_2463insCACCGTGATGGC (p.Ala821_Gly822insThrValMetAla) c.2417_2418insCACCGTGATGGC (p.Ala806_Gly807insThrValMetAla) c.2372_2373insCACCGTGATGGC (p.Ala791_Gly792insThrValMetAla) c.2441_2442insCACCGTGATGGC (p.Ala814_Gly815insThrValMetAla) c.2426_2427insCACCGTGATGGC (p.Ala809_Gly810insThrValMetAla) c.2405_2406insCACCGTGATGGC (p.Ala802_Gly803insThrValMetAla) c.2399_2400insCACCGTGATGGC (p.Ala800_Gly801insThrValMetAla) c.2354_2355insCACCGTGATGGC (p.Ala785_Gly786insThrValMetAla) c.2345_2346insCACCGTGATGGC (p.Ala782_Gly783insThrValMetAla) c.2321_2322insCACCGTGATGGC (p.Ala774_Gly775insThrValMetAla) c.2315_2316insCACCGTGATGGC (p.Ala772_Gly773insThrValMetAla) c.2288_2289insCACCGTGATGGC (p.Ala763_Gly764insThrValMetAla) c.2282_2283insCACCGTGATGGC (p.Ala761_Gly762insThrValMetAla) c.2276_2277insCACCGTGATGGC (p.Ala759_Gly760insThrValMetAla) c.2225_2226insCACCGTGATGGC (p.Ala742_Gly743insThrValMetAla) c.2144_2145insCACCGTGATGGC (p.Ala715_Gly716insThrValMetAla) c.2308-307_2308-306insCACCGTGATGGC (n.2308-307_2308-306insCACCGTGATGGC) c.2066_2067insCACCGTGATGGC (p.Ala689_Gly690insThrValMetAla) c.2208+1082_2208+1083insCACCGTGATGGC (n.2208+1082_2208+1083insCACCGTGATGGC) c.1286_1287insCACCGTGATGGC (p.Ala429_Gly430insThrValMetAla) n.2562_2563insCACCGTGATGGC | |
17 | g.39724742_39724743insCTCCGTGATGGC | CA184731 | ERBB2 | c.2324_2325insCTCCGTGATGGC (p.Ala775_Gly776insSerValMetAla) c.2234_2235insCTCCGTGATGGC (p.Ala745_Gly746insSerValMetAla) c.1496_1497insCTCCGTGATGGC (p.Ala499_Gly500insSerValMetAla) c.2279_2280insCTCCGTGATGGC (p.Ala760_Gly761insSerValMetAla) c.*2114_*2115insCTCCGTGATGGC (n.*2114_*2115insCTCCGTGATGGC) c.430_431insCTCCGTGATGGC n.3458_3459insCTCCGTGATGGC n.2648_2649insCTCCGTGATGGC c.2462_2463insCTCCGTGATGGC (p.Ala821_Gly822insSerValMetAla) c.2417_2418insCTCCGTGATGGC (p.Ala806_Gly807insSerValMetAla) c.2372_2373insCTCCGTGATGGC (p.Ala791_Gly792insSerValMetAla) c.2441_2442insCTCCGTGATGGC (p.Ala814_Gly815insSerValMetAla) c.2426_2427insCTCCGTGATGGC (p.Ala809_Gly810insSerValMetAla) c.2405_2406insCTCCGTGATGGC (p.Ala802_Gly803insSerValMetAla) c.2399_2400insCTCCGTGATGGC (p.Ala800_Gly801insSerValMetAla) c.2354_2355insCTCCGTGATGGC (p.Ala785_Gly786insSerValMetAla) c.2345_2346insCTCCGTGATGGC (p.Ala782_Gly783insSerValMetAla) c.2321_2322insCTCCGTGATGGC (p.Ala774_Gly775insSerValMetAla) c.2315_2316insCTCCGTGATGGC (p.Ala772_Gly773insSerValMetAla) c.2288_2289insCTCCGTGATGGC (p.Ala763_Gly764insSerValMetAla) c.2282_2283insCTCCGTGATGGC (p.Ala761_Gly762insSerValMetAla) c.2276_2277insCTCCGTGATGGC (p.Ala759_Gly760insSerValMetAla) c.2225_2226insCTCCGTGATGGC (p.Ala742_Gly743insSerValMetAla) c.2144_2145insCTCCGTGATGGC (p.Ala715_Gly716insSerValMetAla) c.2308-307_2308-306insCTCCGTGATGGC (n.2308-307_2308-306insCTCCGTGATGGC) c.2066_2067insCTCCGTGATGGC (p.Ala689_Gly690insSerValMetAla) c.2208+1082_2208+1083insCTCCGTGATGGC (n.2208+1082_2208+1083insCTCCGTGATGGC) c.1286_1287insCTCCGTGATGGC (p.Ala429_Gly430insSerValMetAla) n.2562_2563insCTCCGTGATGGC | ClinVar dbSNP |
17 | g.39724743_39724744insTCCGTGATGGCT | CA176035 | ERBB2 | c.2325_2326insTCCGTGATGGCT (p.Ala775_Gly776insSerValMetAla) c.2235_2236insTCCGTGATGGCT (p.Ala745_Gly746insSerValMetAla) c.1497_1498insTCCGTGATGGCT (p.Ala499_Gly500insSerValMetAla) c.2280_2281insTCCGTGATGGCT (p.Ala760_Gly761insSerValMetAla) c.*2115_*2116insTCCGTGATGGCT (n.*2115_*2116insTCCGTGATGGCT) c.431_432insTCCGTGATGGCT n.3459_3460insTCCGTGATGGCT n.2649_2650insTCCGTGATGGCT c.2463_2464insTCCGTGATGGCT (p.Ala821_Gly822insSerValMetAla) c.2418_2419insTCCGTGATGGCT (p.Ala806_Gly807insSerValMetAla) c.2373_2374insTCCGTGATGGCT (p.Ala791_Gly792insSerValMetAla) c.2442_2443insTCCGTGATGGCT (p.Ala814_Gly815insSerValMetAla) c.2427_2428insTCCGTGATGGCT (p.Ala809_Gly810insSerValMetAla) c.2406_2407insTCCGTGATGGCT (p.Ala802_Gly803insSerValMetAla) c.2400_2401insTCCGTGATGGCT (p.Ala800_Gly801insSerValMetAla) c.2355_2356insTCCGTGATGGCT (p.Ala785_Gly786insSerValMetAla) c.2346_2347insTCCGTGATGGCT (p.Ala782_Gly783insSerValMetAla) c.2322_2323insTCCGTGATGGCT (p.Ala774_Gly775insSerValMetAla) c.2316_2317insTCCGTGATGGCT (p.Ala772_Gly773insSerValMetAla) c.2289_2290insTCCGTGATGGCT (p.Ala763_Gly764insSerValMetAla) c.2283_2284insTCCGTGATGGCT (p.Ala761_Gly762insSerValMetAla) c.2277_2278insTCCGTGATGGCT (p.Ala759_Gly760insSerValMetAla) c.2226_2227insTCCGTGATGGCT (p.Ala742_Gly743insSerValMetAla) c.2145_2146insTCCGTGATGGCT (p.Ala715_Gly716insSerValMetAla) c.2308-306_2308-305insTCCGTGATGGCT (n.2308-306_2308-305insTCCGTGATGGCT) c.2067_2068insTCCGTGATGGCT (p.Ala689_Gly690insSerValMetAla) c.2208+1083_2208+1084insTCCGTGATGGCT (n.2208+1083_2208+1084insTCCGTGATGGCT) c.1287_1288insTCCGTGATGGCT (p.Ala429_Gly430insSerValMetAla) n.2563_2564insTCCGTGATGGCT | ClinVar dbSNP |
17 | g.39724734_39724744delinsCGTGATGGCTG | CA2259227976 | ERBB2 | c.2316_2326delinsCGTGATGGCTG (p.Tyr772=) c.2226_2236delinsCGTGATGGCTG (p.Tyr742=) c.1488_1498delinsCGTGATGGCTG (p.Tyr496=) c.2271_2281delinsCGTGATGGCTG (p.Tyr757=) c.*2106_*2116delinsCGTGATGGCTG (n.*2106_*2116delinsCGTGATGGCTG) c.422_432delinsCGTGATGGCTG n.3450_3460delinsCGTGATGGCTG n.2640_2650delinsCGTGATGGCTG c.2454_2464delinsCGTGATGGCTG (p.Tyr818=) c.2409_2419delinsCGTGATGGCTG (p.Tyr803=) c.2364_2374delinsCGTGATGGCTG (p.Tyr788=) c.2433_2443delinsCGTGATGGCTG (p.Tyr811=) c.2418_2428delinsCGTGATGGCTG (p.Tyr806=) c.2397_2407delinsCGTGATGGCTG (p.Tyr799=) c.2391_2401delinsCGTGATGGCTG (p.Tyr797=) c.2346_2356delinsCGTGATGGCTG (p.Tyr782=) c.2337_2347delinsCGTGATGGCTG (p.Tyr779=) c.2313_2323delinsCGTGATGGCTG (p.Tyr771=) c.2307_2317delinsCGTGATGGCTG (p.Tyr769=) c.2280_2290delinsCGTGATGGCTG (p.Tyr760=) c.2274_2284delinsCGTGATGGCTG (p.Tyr758=) c.2268_2278delinsCGTGATGGCTG (p.Tyr756=) c.2217_2227delinsCGTGATGGCTG (p.Tyr739=) c.2136_2146delinsCGTGATGGCTG (p.Tyr712=) c.2308-315_2308-305delinsCGTGATGGCTG (n.2308-315_2308-305delinsCGTGATGGCTG) c.2058_2068delinsCGTGATGGCTG (p.Tyr686=) c.2208+1074_2208+1084delinsCGTGATGGCTG (n.2208+1074_2208+1084delinsCGTGATGGCTG) c.1278_1288delinsCGTGATGGCTG (p.Tyr426=) n.2554_2564delinsCGTGATGGCTG | |
17 | g.39724738_39724747del | CA771855544 | ERBB2 | c.2320_2329del (p.Met774TrpfsTer14) c.2230_2239del (p.Met744TrpfsTer14) c.1492_1501del (p.Met498TrpfsTer14) c.2275_2284del (p.Met759TrpfsTer14) c.*2110_*2119del (n.*2110_*2119del) c.426_435del n.3454_3463del n.2644_2653del c.2458_2467del (p.Met820TrpfsTer14) c.2413_2422del (p.Met805TrpfsTer14) c.2368_2377del (p.Met790TrpfsTer14) c.2437_2446del (p.Met813TrpfsTer14) c.2422_2431del (p.Met808TrpfsTer14) c.2401_2410del (p.Met801TrpfsTer14) c.2395_2404del (p.Met799TrpfsTer14) c.2350_2359del (p.Met784TrpfsTer14) c.2341_2350del (p.Met781TrpfsTer14) c.2317_2326del (p.Met773TrpfsTer14) c.2311_2320del (p.Met771TrpfsTer14) c.2284_2293del (p.Met762TrpfsTer14) c.2278_2287del (p.Met760TrpfsTer14) c.2272_2281del (p.Met758TrpfsTer14) c.2221_2230del (p.Met741TrpfsTer14) c.2140_2149del (p.Met714TrpfsTer14) c.2308-311_2308-302del (n.2308-311_2308-302del) c.2062_2071del (p.Met688TrpfsTer14) c.2208+1078_2208+1087del (n.2208+1078_2208+1087del) c.1282_1291del (p.Met428TrpfsTer14) n.2558_2567del | dbSNP |
17 | g.39724736T>A | CA399302813 | ERBB2 | c.2318T>A (p.Val773Glu) c.2228T>A (p.Val743Glu) c.1490T>A (p.Val497Glu) c.2273T>A (p.Val758Glu) c.*2108T>A (n.*2108T>A) c.424T>A n.3452T>A n.2642T>A c.2456T>A (p.Val819Glu) c.2411T>A (p.Val804Glu) c.2366T>A (p.Val789Glu) c.2435T>A (p.Val812Glu) c.2420T>A (p.Val807Glu) c.2399T>A (p.Val800Glu) c.2393T>A (p.Val798Glu) c.2348T>A (p.Val783Glu) c.2339T>A (p.Val780Glu) c.2315T>A (p.Val772Glu) c.2309T>A (p.Val770Glu) c.2282T>A (p.Val761Glu) c.2276T>A (p.Val759Glu) c.2270T>A (p.Val757Glu) c.2219T>A (p.Val740Glu) c.2138T>A (p.Val713Glu) c.2308-313T>A (n.2308-313T>A) c.2060T>A (p.Val687Glu) c.2208+1076T>A (n.2208+1076T>A) c.1280T>A (p.Val427Glu) n.2556T>A | dbSNP |
17 | g.39724736T>C | CA399302815 | ERBB2 | c.2318T>C (p.Val773Ala) c.2228T>C (p.Val743Ala) c.1490T>C (p.Val497Ala) c.2273T>C (p.Val758Ala) c.*2108T>C (n.*2108T>C) c.424T>C n.3452T>C n.2642T>C c.2456T>C (p.Val819Ala) c.2411T>C (p.Val804Ala) c.2366T>C (p.Val789Ala) c.2435T>C (p.Val812Ala) c.2420T>C (p.Val807Ala) c.2399T>C (p.Val800Ala) c.2393T>C (p.Val798Ala) c.2348T>C (p.Val783Ala) c.2339T>C (p.Val780Ala) c.2315T>C (p.Val772Ala) c.2309T>C (p.Val770Ala) c.2282T>C (p.Val761Ala) c.2276T>C (p.Val759Ala) c.2270T>C (p.Val757Ala) c.2219T>C (p.Val740Ala) c.2138T>C (p.Val713Ala) c.2308-313T>C (n.2308-313T>C) c.2060T>C (p.Val687Ala) c.2208+1076T>C (n.2208+1076T>C) c.1280T>C (p.Val427Ala) n.2556T>C | dbSNP COSMIC |
17 | g.39724736T>G | CA399302817 | ERBB2 | c.2318T>G (p.Val773Gly) c.2228T>G (p.Val743Gly) c.1490T>G (p.Val497Gly) c.2273T>G (p.Val758Gly) c.*2108T>G (n.*2108T>G) c.424T>G n.3452T>G n.2642T>G c.2456T>G (p.Val819Gly) c.2411T>G (p.Val804Gly) c.2366T>G (p.Val789Gly) c.2435T>G (p.Val812Gly) c.2420T>G (p.Val807Gly) c.2399T>G (p.Val800Gly) c.2393T>G (p.Val798Gly) c.2348T>G (p.Val783Gly) c.2339T>G (p.Val780Gly) c.2315T>G (p.Val772Gly) c.2309T>G (p.Val770Gly) c.2282T>G (p.Val761Gly) c.2276T>G (p.Val759Gly) c.2270T>G (p.Val757Gly) c.2219T>G (p.Val740Gly) c.2138T>G (p.Val713Gly) c.2308-313T>G (n.2308-313T>G) c.2060T>G (p.Val687Gly) c.2208+1076T>G (n.2208+1076T>G) c.1280T>G (p.Val427Gly) n.2556T>G | dbSNP |
17 | g.39724737G>A | CA499670832 | ERBB2 | c.2319G>A (p.Val773=) c.2229G>A (p.Val743=) c.1491G>A (p.Val497=) c.2274G>A (p.Val758=) c.*2109G>A (n.*2109G>A) c.425G>A n.3453G>A n.2643G>A c.2457G>A (p.Val819=) c.2412G>A (p.Val804=) c.2367G>A (p.Val789=) c.2436G>A (p.Val812=) c.2421G>A (p.Val807=) c.2400G>A (p.Val800=) c.2394G>A (p.Val798=) c.2349G>A (p.Val783=) c.2340G>A (p.Val780=) c.2316G>A (p.Val772=) c.2310G>A (p.Val770=) c.2283G>A (p.Val761=) c.2277G>A (p.Val759=) c.2271G>A (p.Val757=) c.2220G>A (p.Val740=) c.2139G>A (p.Val713=) c.2308-312G>A (n.2308-312G>A) c.2061G>A (p.Val687=) c.2208+1077G>A (n.2208+1077G>A) c.1281G>A (p.Val427=) n.2557G>A | dbSNP |
17 | g.39724737G>C | CA499670830 | ERBB2 | c.2319G>C (p.Val773=) c.2229G>C (p.Val743=) c.1491G>C (p.Val497=) c.2274G>C (p.Val758=) c.*2109G>C (n.*2109G>C) c.425G>C n.3453G>C n.2643G>C c.2457G>C (p.Val819=) c.2412G>C (p.Val804=) c.2367G>C (p.Val789=) c.2436G>C (p.Val812=) c.2421G>C (p.Val807=) c.2400G>C (p.Val800=) c.2394G>C (p.Val798=) c.2349G>C (p.Val783=) c.2340G>C (p.Val780=) c.2316G>C (p.Val772=) c.2310G>C (p.Val770=) c.2283G>C (p.Val761=) c.2277G>C (p.Val759=) c.2271G>C (p.Val757=) c.2220G>C (p.Val740=) c.2139G>C (p.Val713=) c.2308-312G>C (n.2308-312G>C) c.2061G>C (p.Val687=) c.2208+1077G>C (n.2208+1077G>C) c.1281G>C (p.Val427=) n.2557G>C | dbSNP |
17 | g.39724737G>T | CA499670831 | ERBB2 | c.2319G>T (p.Val773=) c.2229G>T (p.Val743=) c.1491G>T (p.Val497=) c.2274G>T (p.Val758=) c.*2109G>T (n.*2109G>T) c.425G>T n.3453G>T n.2643G>T c.2457G>T (p.Val819=) c.2412G>T (p.Val804=) c.2367G>T (p.Val789=) c.2436G>T (p.Val812=) c.2421G>T (p.Val807=) c.2400G>T (p.Val800=) c.2394G>T (p.Val798=) c.2349G>T (p.Val783=) c.2340G>T (p.Val780=) c.2316G>T (p.Val772=) c.2310G>T (p.Val770=) c.2283G>T (p.Val761=) c.2277G>T (p.Val759=) c.2271G>T (p.Val757=) c.2220G>T (p.Val740=) c.2139G>T (p.Val713=) c.2308-312G>T (n.2308-312G>T) c.2061G>T (p.Val687=) c.2208+1077G>T (n.2208+1077G>T) c.1281G>T (p.Val427=) n.2557G>T | dbSNP |
17 | g.39724737_39724738delinsGA | CA2259227979 | ERBB2 | c.2319_2320delinsGA (p.Val773=) c.2229_2230delinsGA (p.Val743=) c.1491_1492delinsGA (p.Val497=) c.2274_2275delinsGA (p.Val758=) c.*2109_*2110delinsGA (n.*2109_*2110delinsGA) c.425_426delinsGA n.3453_3454delinsGA n.2643_2644delinsGA c.2457_2458delinsGA (p.Val819=) c.2412_2413delinsGA (p.Val804=) c.2367_2368delinsGA (p.Val789=) c.2436_2437delinsGA (p.Val812=) c.2421_2422delinsGA (p.Val807=) c.2400_2401delinsGA (p.Val800=) c.2394_2395delinsGA (p.Val798=) c.2349_2350delinsGA (p.Val783=) c.2340_2341delinsGA (p.Val780=) c.2316_2317delinsGA (p.Val772=) c.2310_2311delinsGA (p.Val770=) c.2283_2284delinsGA (p.Val761=) c.2277_2278delinsGA (p.Val759=) c.2271_2272delinsGA (p.Val757=) c.2220_2221delinsGA (p.Val740=) c.2139_2140delinsGA (p.Val713=) c.2308-312_2308-311delinsGA (n.2308-312_2308-311delinsGA) c.2061_2062delinsGA (p.Val687=) c.2208+1077_2208+1078delinsGA (n.2208+1077_2208+1078delinsGA) c.1281_1282delinsGA (p.Val427=) n.2557_2558delinsGA | |
17 | g.39724738del | CA135370 | ERBB2 | c.2320del (p.Met774TrpfsTer17) c.2230del (p.Met744TrpfsTer17) c.1492del (p.Met498TrpfsTer17) c.2275del (p.Met759TrpfsTer17) c.*2110del (n.*2110del) c.426del n.3454del n.2644del c.2458del (p.Met820TrpfsTer17) c.2413del (p.Met805TrpfsTer17) c.2368del (p.Met790TrpfsTer17) c.2437del (p.Met813TrpfsTer17) c.2422del (p.Met808TrpfsTer17) c.2401del (p.Met801TrpfsTer17) c.2395del (p.Met799TrpfsTer17) c.2350del (p.Met784TrpfsTer17) c.2341del (p.Met781TrpfsTer17) c.2317del (p.Met773TrpfsTer17) c.2311del (p.Met771TrpfsTer17) c.2284del (p.Met762TrpfsTer17) c.2278del (p.Met760TrpfsTer17) c.2272del (p.Met758TrpfsTer17) c.2221del (p.Met741TrpfsTer17) c.2140del (p.Met714TrpfsTer17) c.2308-311del (n.2308-311del) c.2062del (p.Met688TrpfsTer17) c.2208+1078del (n.2208+1078del) c.1282del (p.Met428TrpfsTer17) n.2558del | ClinVar dbSNP |
17 | g.39724738A>C | CA399302820 | ERBB2 | c.2320A>C (p.Met774Leu) c.2230A>C (p.Met744Leu) c.1492A>C (p.Met498Leu) c.2275A>C (p.Met759Leu) c.*2110A>C (n.*2110A>C) c.426A>C n.3454A>C n.2644A>C c.2458A>C (p.Met820Leu) c.2413A>C (p.Met805Leu) c.2368A>C (p.Met790Leu) c.2437A>C (p.Met813Leu) c.2422A>C (p.Met808Leu) c.2401A>C (p.Met801Leu) c.2395A>C (p.Met799Leu) c.2350A>C (p.Met784Leu) c.2341A>C (p.Met781Leu) c.2317A>C (p.Met773Leu) c.2311A>C (p.Met771Leu) c.2284A>C (p.Met762Leu) c.2278A>C (p.Met760Leu) c.2272A>C (p.Met758Leu) c.2221A>C (p.Met741Leu) c.2140A>C (p.Met714Leu) c.2308-311A>C (n.2308-311A>C) c.2062A>C (p.Met688Leu) c.2208+1078A>C (n.2208+1078A>C) c.1282A>C (p.Met428Leu) n.2558A>C | |
17 | g.39724738A>G | CA399302821 | ERBB2 | c.2320A>G (p.Met774Val) c.2230A>G (p.Met744Val) c.1492A>G (p.Met498Val) c.2275A>G (p.Met759Val) c.*2110A>G (n.*2110A>G) c.426A>G n.3454A>G n.2644A>G c.2458A>G (p.Met820Val) c.2413A>G (p.Met805Val) c.2368A>G (p.Met790Val) c.2437A>G (p.Met813Val) c.2422A>G (p.Met808Val) c.2401A>G (p.Met801Val) c.2395A>G (p.Met799Val) c.2350A>G (p.Met784Val) c.2341A>G (p.Met781Val) c.2317A>G (p.Met773Val) c.2311A>G (p.Met771Val) c.2284A>G (p.Met762Val) c.2278A>G (p.Met760Val) c.2272A>G (p.Met758Val) c.2221A>G (p.Met741Val) c.2140A>G (p.Met714Val) c.2308-311A>G (n.2308-311A>G) c.2062A>G (p.Met688Val) c.2208+1078A>G (n.2208+1078A>G) c.1282A>G (p.Met428Val) n.2558A>G | dbSNP gnomAD v4 |
17 | g.39724738A>T | CA399302822 | ERBB2 | c.2320A>T (p.Met774Leu) c.2230A>T (p.Met744Leu) c.1492A>T (p.Met498Leu) c.2275A>T (p.Met759Leu) c.*2110A>T (n.*2110A>T) c.426A>T n.3454A>T n.2644A>T c.2458A>T (p.Met820Leu) c.2413A>T (p.Met805Leu) c.2368A>T (p.Met790Leu) c.2437A>T (p.Met813Leu) c.2422A>T (p.Met808Leu) c.2401A>T (p.Met801Leu) c.2395A>T (p.Met799Leu) c.2350A>T (p.Met784Leu) c.2341A>T (p.Met781Leu) c.2317A>T (p.Met773Leu) c.2311A>T (p.Met771Leu) c.2284A>T (p.Met762Leu) c.2278A>T (p.Met760Leu) c.2272A>T (p.Met758Leu) c.2221A>T (p.Met741Leu) c.2140A>T (p.Met714Leu) c.2308-311A>T (n.2308-311A>T) c.2062A>T (p.Met688Leu) c.2208+1078A>T (n.2208+1078A>T) c.1282A>T (p.Met428Leu) n.2558A>T | dbSNP |
17 | g.39724739T>A | CA399302825 | ERBB2 | c.2321T>A (p.Met774Lys) c.2231T>A (p.Met744Lys) c.1493T>A (p.Met498Lys) c.2276T>A (p.Met759Lys) c.*2111T>A (n.*2111T>A) c.427T>A n.3455T>A n.2645T>A c.2459T>A (p.Met820Lys) c.2414T>A (p.Met805Lys) c.2369T>A (p.Met790Lys) c.2438T>A (p.Met813Lys) c.2423T>A (p.Met808Lys) c.2402T>A (p.Met801Lys) c.2396T>A (p.Met799Lys) c.2351T>A (p.Met784Lys) c.2342T>A (p.Met781Lys) c.2318T>A (p.Met773Lys) c.2312T>A (p.Met771Lys) c.2285T>A (p.Met762Lys) c.2279T>A (p.Met760Lys) c.2273T>A (p.Met758Lys) c.2222T>A (p.Met741Lys) c.2141T>A (p.Met714Lys) c.2308-310T>A (n.2308-310T>A) c.2063T>A (p.Met688Lys) c.2208+1079T>A (n.2208+1079T>A) c.1283T>A (p.Met428Lys) n.2559T>A | |
17 | g.39724739T>C | CA399302826 | ERBB2 | c.2321T>C (p.Met774Thr) c.2231T>C (p.Met744Thr) c.1493T>C (p.Met498Thr) c.2276T>C (p.Met759Thr) c.*2111T>C (n.*2111T>C) c.427T>C n.3455T>C n.2645T>C c.2459T>C (p.Met820Thr) c.2414T>C (p.Met805Thr) c.2369T>C (p.Met790Thr) c.2438T>C (p.Met813Thr) c.2423T>C (p.Met808Thr) c.2402T>C (p.Met801Thr) c.2396T>C (p.Met799Thr) c.2351T>C (p.Met784Thr) c.2342T>C (p.Met781Thr) c.2318T>C (p.Met773Thr) c.2312T>C (p.Met771Thr) c.2285T>C (p.Met762Thr) c.2279T>C (p.Met760Thr) c.2273T>C (p.Met758Thr) c.2222T>C (p.Met741Thr) c.2141T>C (p.Met714Thr) c.2308-310T>C (n.2308-310T>C) c.2063T>C (p.Met688Thr) c.2208+1079T>C (n.2208+1079T>C) c.1283T>C (p.Met428Thr) n.2559T>C | |
17 | g.39724739T>G | CA399302823 | ERBB2 | c.2321T>G (p.Met774Arg) c.2231T>G (p.Met744Arg) c.1493T>G (p.Met498Arg) c.2276T>G (p.Met759Arg) c.*2111T>G (n.*2111T>G) c.427T>G n.3455T>G n.2645T>G c.2459T>G (p.Met820Arg) c.2414T>G (p.Met805Arg) c.2369T>G (p.Met790Arg) c.2438T>G (p.Met813Arg) c.2423T>G (p.Met808Arg) c.2402T>G (p.Met801Arg) c.2396T>G (p.Met799Arg) c.2351T>G (p.Met784Arg) c.2342T>G (p.Met781Arg) c.2318T>G (p.Met773Arg) c.2312T>G (p.Met771Arg) c.2285T>G (p.Met762Arg) c.2279T>G (p.Met760Arg) c.2273T>G (p.Met758Arg) c.2222T>G (p.Met741Arg) c.2141T>G (p.Met714Arg) c.2308-310T>G (n.2308-310T>G) c.2063T>G (p.Met688Arg) c.2208+1079T>G (n.2208+1079T>G) c.1283T>G (p.Met428Arg) n.2559T>G | |
17 | g.39724740G>A | CA399302832 | ERBB2 | c.2322G>A (p.Met774Ile) c.2232G>A (p.Met744Ile) c.1494G>A (p.Met498Ile) c.2277G>A (p.Met759Ile) c.*2112G>A (n.*2112G>A) c.428G>A n.3456G>A n.2646G>A c.2460G>A (p.Met820Ile) c.2415G>A (p.Met805Ile) c.2370G>A (p.Met790Ile) c.2439G>A (p.Met813Ile) c.2424G>A (p.Met808Ile) c.2403G>A (p.Met801Ile) c.2397G>A (p.Met799Ile) c.2352G>A (p.Met784Ile) c.2343G>A (p.Met781Ile) c.2319G>A (p.Met773Ile) c.2313G>A (p.Met771Ile) c.2286G>A (p.Met762Ile) c.2280G>A (p.Met760Ile) c.2274G>A (p.Met758Ile) c.2223G>A (p.Met741Ile) c.2142G>A (p.Met714Ile) c.2308-309G>A (n.2308-309G>A) c.2064G>A (p.Met688Ile) c.2208+1080G>A (n.2208+1080G>A) c.1284G>A (p.Met428Ile) n.2560G>A | |
17 | g.39724740G>C | CA399302830 | ERBB2 | c.2322G>C (p.Met774Ile) c.2232G>C (p.Met744Ile) c.1494G>C (p.Met498Ile) c.2277G>C (p.Met759Ile) c.*2112G>C (n.*2112G>C) c.428G>C n.3456G>C n.2646G>C c.2460G>C (p.Met820Ile) c.2415G>C (p.Met805Ile) c.2370G>C (p.Met790Ile) c.2439G>C (p.Met813Ile) c.2424G>C (p.Met808Ile) c.2403G>C (p.Met801Ile) c.2397G>C (p.Met799Ile) c.2352G>C (p.Met784Ile) c.2343G>C (p.Met781Ile) c.2319G>C (p.Met773Ile) c.2313G>C (p.Met771Ile) c.2286G>C (p.Met762Ile) c.2280G>C (p.Met760Ile) c.2274G>C (p.Met758Ile) c.2223G>C (p.Met741Ile) c.2142G>C (p.Met714Ile) c.2308-309G>C (n.2308-309G>C) c.2064G>C (p.Met688Ile) c.2208+1080G>C (n.2208+1080G>C) c.1284G>C (p.Met428Ile) n.2560G>C | |
17 | g.39724740G= | CA2259227980 | ERBB2 | c.2322G= (p.Met774=) c.2232G= (p.Met744=) c.1494G= (p.Met498=) c.2277G= (p.Met759=) c.*2112G= (n.*2112G=) c.428G= n.3456G= n.2646G= c.2460G= (p.Met820=) c.2415G= (p.Met805=) c.2370G= (p.Met790=) c.2439G= (p.Met813=) c.2424G= (p.Met808=) c.2403G= (p.Met801=) c.2397G= (p.Met799=) c.2352G= (p.Met784=) c.2343G= (p.Met781=) c.2319G= (p.Met773=) c.2313G= (p.Met771=) c.2286G= (p.Met762=) c.2280G= (p.Met760=) c.2274G= (p.Met758=) c.2223G= (p.Met741=) c.2142G= (p.Met714=) c.2308-309G= (n.2308-309G=) c.2064G= (p.Met688=) c.2208+1080G= (n.2208+1080G=) c.1284G= (p.Met428=) n.2560G= | |
17 | g.39724740G>T | CA8534279 | ERBB2 | c.2322G>T (p.Met774Ile) c.2232G>T (p.Met744Ile) c.1494G>T (p.Met498Ile) c.2277G>T (p.Met759Ile) c.*2112G>T (n.*2112G>T) c.428G>T n.3456G>T n.2646G>T c.2460G>T (p.Met820Ile) c.2415G>T (p.Met805Ile) c.2370G>T (p.Met790Ile) c.2439G>T (p.Met813Ile) c.2424G>T (p.Met808Ile) c.2403G>T (p.Met801Ile) c.2397G>T (p.Met799Ile) c.2352G>T (p.Met784Ile) c.2343G>T (p.Met781Ile) c.2319G>T (p.Met773Ile) c.2313G>T (p.Met771Ile) c.2286G>T (p.Met762Ile) c.2280G>T (p.Met760Ile) c.2274G>T (p.Met758Ile) c.2223G>T (p.Met741Ile) c.2142G>T (p.Met714Ile) c.2308-309G>T (n.2308-309G>T) c.2064G>T (p.Met688Ile) c.2208+1080G>T (n.2208+1080G>T) c.1284G>T (p.Met428Ile) n.2560G>T | dbSNP ExAC gnomAD v2 |
17 | g.39724741G>A | CA399302838 | ERBB2 | c.2323G>A (p.Ala775Thr) c.2233G>A (p.Ala745Thr) c.1495G>A (p.Ala499Thr) c.2278G>A (p.Ala760Thr) c.*2113G>A (n.*2113G>A) c.429G>A n.3457G>A n.2647G>A c.2461G>A (p.Ala821Thr) c.2416G>A (p.Ala806Thr) c.2371G>A (p.Ala791Thr) c.2440G>A (p.Ala814Thr) c.2425G>A (p.Ala809Thr) c.2404G>A (p.Ala802Thr) c.2398G>A (p.Ala800Thr) c.2353G>A (p.Ala785Thr) c.2344G>A (p.Ala782Thr) c.2320G>A (p.Ala774Thr) c.2314G>A (p.Ala772Thr) c.2287G>A (p.Ala763Thr) c.2281G>A (p.Ala761Thr) c.2275G>A (p.Ala759Thr) c.2224G>A (p.Ala742Thr) c.2143G>A (p.Ala715Thr) c.2308-308G>A (n.2308-308G>A) c.2065G>A (p.Ala689Thr) c.2208+1081G>A (n.2208+1081G>A) c.1285G>A (p.Ala429Thr) n.2561G>A | dbSNP |
17 | g.39724741G>C | CA399302834 | ERBB2 | c.2323G>C (p.Ala775Pro) c.2233G>C (p.Ala745Pro) c.1495G>C (p.Ala499Pro) c.2278G>C (p.Ala760Pro) c.*2113G>C (n.*2113G>C) c.429G>C n.3457G>C n.2647G>C c.2461G>C (p.Ala821Pro) c.2416G>C (p.Ala806Pro) c.2371G>C (p.Ala791Pro) c.2440G>C (p.Ala814Pro) c.2425G>C (p.Ala809Pro) c.2404G>C (p.Ala802Pro) c.2398G>C (p.Ala800Pro) c.2353G>C (p.Ala785Pro) c.2344G>C (p.Ala782Pro) c.2320G>C (p.Ala774Pro) c.2314G>C (p.Ala772Pro) c.2287G>C (p.Ala763Pro) c.2281G>C (p.Ala761Pro) c.2275G>C (p.Ala759Pro) c.2224G>C (p.Ala742Pro) c.2143G>C (p.Ala715Pro) c.2308-308G>C (n.2308-308G>C) c.2065G>C (p.Ala689Pro) c.2208+1081G>C (n.2208+1081G>C) c.1285G>C (p.Ala429Pro) n.2561G>C | dbSNP |
17 | g.39724741G>T | CA399302836 | ERBB2 | c.2323G>T (p.Ala775Ser) c.2233G>T (p.Ala745Ser) c.1495G>T (p.Ala499Ser) c.2278G>T (p.Ala760Ser) c.*2113G>T (n.*2113G>T) c.429G>T n.3457G>T n.2647G>T c.2461G>T (p.Ala821Ser) c.2416G>T (p.Ala806Ser) c.2371G>T (p.Ala791Ser) c.2440G>T (p.Ala814Ser) c.2425G>T (p.Ala809Ser) c.2404G>T (p.Ala802Ser) c.2398G>T (p.Ala800Ser) c.2353G>T (p.Ala785Ser) c.2344G>T (p.Ala782Ser) c.2320G>T (p.Ala774Ser) c.2314G>T (p.Ala772Ser) c.2287G>T (p.Ala763Ser) c.2281G>T (p.Ala761Ser) c.2275G>T (p.Ala759Ser) c.2224G>T (p.Ala742Ser) c.2143G>T (p.Ala715Ser) c.2308-308G>T (n.2308-308G>T) c.2065G>T (p.Ala689Ser) c.2208+1081G>T (n.2208+1081G>T) c.1285G>T (p.Ala429Ser) n.2561G>T | dbSNP |
17 | g.39724742C>A | CA399302840 | ERBB2 | c.2324C>A (p.Ala775Asp) c.2234C>A (p.Ala745Asp) c.1496C>A (p.Ala499Asp) c.2279C>A (p.Ala760Asp) c.*2114C>A (n.*2114C>A) c.430C>A n.3458C>A n.2648C>A c.2462C>A (p.Ala821Asp) c.2417C>A (p.Ala806Asp) c.2372C>A (p.Ala791Asp) c.2441C>A (p.Ala814Asp) c.2426C>A (p.Ala809Asp) c.2405C>A (p.Ala802Asp) c.2399C>A (p.Ala800Asp) c.2354C>A (p.Ala785Asp) c.2345C>A (p.Ala782Asp) c.2321C>A (p.Ala774Asp) c.2315C>A (p.Ala772Asp) c.2288C>A (p.Ala763Asp) c.2282C>A (p.Ala761Asp) c.2276C>A (p.Ala759Asp) c.2225C>A (p.Ala742Asp) c.2144C>A (p.Ala715Asp) c.2308-307C>A (n.2308-307C>A) c.2066C>A (p.Ala689Asp) c.2208+1082C>A (n.2208+1082C>A) c.1286C>A (p.Ala429Asp) n.2562C>A | dbSNP |
17 | g.39724742C>G | CA399302842 | ERBB2 | c.2324C>G (p.Ala775Gly) c.2234C>G (p.Ala745Gly) c.1496C>G (p.Ala499Gly) c.2279C>G (p.Ala760Gly) c.*2114C>G (n.*2114C>G) c.430C>G n.3458C>G n.2648C>G c.2462C>G (p.Ala821Gly) c.2417C>G (p.Ala806Gly) c.2372C>G (p.Ala791Gly) c.2441C>G (p.Ala814Gly) c.2426C>G (p.Ala809Gly) c.2405C>G (p.Ala802Gly) c.2399C>G (p.Ala800Gly) c.2354C>G (p.Ala785Gly) c.2345C>G (p.Ala782Gly) c.2321C>G (p.Ala774Gly) c.2315C>G (p.Ala772Gly) c.2288C>G (p.Ala763Gly) c.2282C>G (p.Ala761Gly) c.2276C>G (p.Ala759Gly) c.2225C>G (p.Ala742Gly) c.2144C>G (p.Ala715Gly) c.2308-307C>G (n.2308-307C>G) c.2066C>G (p.Ala689Gly) c.2208+1082C>G (n.2208+1082C>G) c.1286C>G (p.Ala429Gly) n.2562C>G | dbSNP |
17 | g.39724742C>T | CA399302845 | ERBB2 | c.2324C>T (p.Ala775Val) c.2234C>T (p.Ala745Val) c.1496C>T (p.Ala499Val) c.2279C>T (p.Ala760Val) c.*2114C>T (n.*2114C>T) c.430C>T n.3458C>T n.2648C>T c.2462C>T (p.Ala821Val) c.2417C>T (p.Ala806Val) c.2372C>T (p.Ala791Val) c.2441C>T (p.Ala814Val) c.2426C>T (p.Ala809Val) c.2405C>T (p.Ala802Val) c.2399C>T (p.Ala800Val) c.2354C>T (p.Ala785Val) c.2345C>T (p.Ala782Val) c.2321C>T (p.Ala774Val) c.2315C>T (p.Ala772Val) c.2288C>T (p.Ala763Val) c.2282C>T (p.Ala761Val) c.2276C>T (p.Ala759Val) c.2225C>T (p.Ala742Val) c.2144C>T (p.Ala715Val) c.2308-307C>T (n.2308-307C>T) c.2066C>T (p.Ala689Val) c.2208+1082C>T (n.2208+1082C>T) c.1286C>T (p.Ala429Val) n.2562C>T | dbSNP |
17 | g.39724743T>A | CA499670836 | ERBB2 | c.2325T>A (p.Ala775=) c.2235T>A (p.Ala745=) c.1497T>A (p.Ala499=) c.2280T>A (p.Ala760=) c.*2115T>A (n.*2115T>A) c.431T>A n.3459T>A n.2649T>A c.2463T>A (p.Ala821=) c.2418T>A (p.Ala806=) c.2373T>A (p.Ala791=) c.2442T>A (p.Ala814=) c.2427T>A (p.Ala809=) c.2406T>A (p.Ala802=) c.2400T>A (p.Ala800=) c.2355T>A (p.Ala785=) c.2346T>A (p.Ala782=) c.2322T>A (p.Ala774=) c.2316T>A (p.Ala772=) c.2289T>A (p.Ala763=) c.2283T>A (p.Ala761=) c.2277T>A (p.Ala759=) c.2226T>A (p.Ala742=) c.2145T>A (p.Ala715=) c.2308-306T>A (n.2308-306T>A) c.2067T>A (p.Ala689=) c.2208+1083T>A (n.2208+1083T>A) c.1287T>A (p.Ala429=) n.2563T>A | dbSNP |
17 | g.39724743T>C | CA499670833 | ERBB2 | c.2325T>C (p.Ala775=) c.2235T>C (p.Ala745=) c.1497T>C (p.Ala499=) c.2280T>C (p.Ala760=) c.*2115T>C (n.*2115T>C) c.431T>C n.3459T>C n.2649T>C c.2463T>C (p.Ala821=) c.2418T>C (p.Ala806=) c.2373T>C (p.Ala791=) c.2442T>C (p.Ala814=) c.2427T>C (p.Ala809=) c.2406T>C (p.Ala802=) c.2400T>C (p.Ala800=) c.2355T>C (p.Ala785=) c.2346T>C (p.Ala782=) c.2322T>C (p.Ala774=) c.2316T>C (p.Ala772=) c.2289T>C (p.Ala763=) c.2283T>C (p.Ala761=) c.2277T>C (p.Ala759=) c.2226T>C (p.Ala742=) c.2145T>C (p.Ala715=) c.2308-306T>C (n.2308-306T>C) c.2067T>C (p.Ala689=) c.2208+1083T>C (n.2208+1083T>C) c.1287T>C (p.Ala429=) n.2563T>C | dbSNP |
17 | g.39724743T>G | CA499670835 | ERBB2 | c.2325T>G (p.Ala775=) c.2235T>G (p.Ala745=) c.1497T>G (p.Ala499=) c.2280T>G (p.Ala760=) c.*2115T>G (n.*2115T>G) c.431T>G n.3459T>G n.2649T>G c.2463T>G (p.Ala821=) c.2418T>G (p.Ala806=) c.2373T>G (p.Ala791=) c.2442T>G (p.Ala814=) c.2427T>G (p.Ala809=) c.2406T>G (p.Ala802=) c.2400T>G (p.Ala800=) c.2355T>G (p.Ala785=) c.2346T>G (p.Ala782=) c.2322T>G (p.Ala774=) c.2316T>G (p.Ala772=) c.2289T>G (p.Ala763=) c.2283T>G (p.Ala761=) c.2277T>G (p.Ala759=) c.2226T>G (p.Ala742=) c.2145T>G (p.Ala715=) c.2308-306T>G (n.2308-306T>G) c.2067T>G (p.Ala689=) c.2208+1083T>G (n.2208+1083T>G) c.1287T>G (p.Ala429=) n.2563T>G | |
17 | g.39724743_39724744delinsTG | CA2259227981 | ERBB2 | c.2325_2326delinsTG (p.Ala775=) c.2235_2236delinsTG (p.Ala745=) c.1497_1498delinsTG (p.Ala499=) c.2280_2281delinsTG (p.Ala760=) c.*2115_*2116delinsTG (n.*2115_*2116delinsTG) c.431_432delinsTG n.3459_3460delinsTG n.2649_2650delinsTG c.2463_2464delinsTG (p.Ala821=) c.2418_2419delinsTG (p.Ala806=) c.2373_2374delinsTG (p.Ala791=) c.2442_2443delinsTG (p.Ala814=) c.2427_2428delinsTG (p.Ala809=) c.2406_2407delinsTG (p.Ala802=) c.2400_2401delinsTG (p.Ala800=) c.2355_2356delinsTG (p.Ala785=) c.2346_2347delinsTG (p.Ala782=) c.2322_2323delinsTG (p.Ala774=) c.2316_2317delinsTG (p.Ala772=) c.2289_2290delinsTG (p.Ala763=) c.2283_2284delinsTG (p.Ala761=) c.2277_2278delinsTG (p.Ala759=) c.2226_2227delinsTG (p.Ala742=) c.2145_2146delinsTG (p.Ala715=) c.2308-306_2308-305delinsTG (n.2308-306_2308-305delinsTG) c.2067_2068delinsTG (p.Ala689=) c.2208+1083_2208+1084delinsTG (n.2208+1083_2208+1084delinsTG) c.1287_1288delinsTG (p.Ala429=) n.2563_2564delinsTG | |
17 | g.39724744_39724745insTTG | CA2579784385 | ERBB2 | c.2326_2327insTTG (p.Ala775_Gly776insVal) c.2236_2237insTTG (p.Ala745_Gly746insVal) c.1498_1499insTTG (p.Ala499_Gly500insVal) c.2281_2282insTTG (p.Ala760_Gly761insVal) c.*2116_*2117insTTG (n.*2116_*2117insTTG) c.432_433insTTG n.3460_3461insTTG n.2650_2651insTTG c.2464_2465insTTG (p.Ala821_Gly822insVal) c.2419_2420insTTG (p.Ala806_Gly807insVal) c.2374_2375insTTG (p.Ala791_Gly792insVal) c.2443_2444insTTG (p.Ala814_Gly815insVal) c.2428_2429insTTG (p.Ala809_Gly810insVal) c.2407_2408insTTG (p.Ala802_Gly803insVal) c.2401_2402insTTG (p.Ala800_Gly801insVal) c.2356_2357insTTG (p.Ala785_Gly786insVal) c.2347_2348insTTG (p.Ala782_Gly783insVal) c.2323_2324insTTG (p.Ala774_Gly775insVal) c.2317_2318insTTG (p.Ala772_Gly773insVal) c.2290_2291insTTG (p.Ala763_Gly764insVal) c.2284_2285insTTG (p.Ala761_Gly762insVal) c.2278_2279insTTG (p.Ala759_Gly760insVal) c.2227_2228insTTG (p.Ala742_Gly743insVal) c.2146_2147insTTG (p.Ala715_Gly716insVal) c.2308-305_2308-304insTTG (n.2308-305_2308-304insTTG) c.2068_2069insTTG (p.Ala689_Gly690insVal) c.2208+1084_2208+1085insTTG (n.2208+1084_2208+1085insTTG) c.1288_1289insTTG (p.Ala429_Gly430insVal) n.2564_2565insTTG | |
17 | g.39724743_39724746delinsCGGA | CA2838036136 | ERBB2 | c.2325_2328delinsCGGA (p.Ala775=) c.2235_2238delinsCGGA (p.Ala745=) c.1497_1500delinsCGGA (p.Ala499=) c.2280_2283delinsCGGA (p.Ala760=) c.*2115_*2118delinsCGGA (n.*2115_*2118delinsCGGA) c.431_434delinsCGGA n.3459_3462delinsCGGA n.2649_2652delinsCGGA c.2463_2466delinsCGGA (p.Ala821=) c.2418_2421delinsCGGA (p.Ala806=) c.2373_2376delinsCGGA (p.Ala791=) c.2442_2445delinsCGGA (p.Ala814=) c.2427_2430delinsCGGA (p.Ala809=) c.2406_2409delinsCGGA (p.Ala802=) c.2400_2403delinsCGGA (p.Ala800=) c.2355_2358delinsCGGA (p.Ala785=) c.2346_2349delinsCGGA (p.Ala782=) c.2322_2325delinsCGGA (p.Ala774=) c.2316_2319delinsCGGA (p.Ala772=) c.2289_2292delinsCGGA (p.Ala763=) c.2283_2286delinsCGGA (p.Ala761=) c.2277_2280delinsCGGA (p.Ala759=) c.2226_2229delinsCGGA (p.Ala742=) c.2145_2148delinsCGGA (p.Ala715=) c.2308-306_2308-303delinsCGGA (n.2308-306_2308-303delinsCGGA) c.2067_2070delinsCGGA (p.Ala689=) c.2208+1083_2208+1086delinsCGGA (n.2208+1083_2208+1086delinsCGGA) c.1287_1290delinsCGGA (p.Ala429=) n.2563_2566delinsCGGA | |
17 | g.39724743_39724748delinsCGGAGTGGGCTCCCC | CA2838036137 | ERBB2 | c.2325_2330delinsCGGAGTGGGCTCCCC (p.Val777_Gly778insGlySerPro) c.2235_2240delinsCGGAGTGGGCTCCCC (p.Val747_Gly748insGlySerPro) c.1497_1502delinsCGGAGTGGGCTCCCC (p.Val501_Gly502insGlySerPro) c.2280_2285delinsCGGAGTGGGCTCCCC (p.Val762_Gly763insGlySerPro) c.*2115_*2120delinsCGGAGTGGGCTCCCC (n.*2115_*2120delinsCGGAGTGGGCTCCCC) c.431_436delinsCGGAGTGGGCTCCCC n.3459_3464delinsCGGAGTGGGCTCCCC n.2649_2654delinsCGGAGTGGGCTCCCC c.2463_2468delinsCGGAGTGGGCTCCCC (p.Val823_Gly824insGlySerPro) c.2418_2423delinsCGGAGTGGGCTCCCC (p.Val808_Gly809insGlySerPro) c.2373_2378delinsCGGAGTGGGCTCCCC (p.Val793_Gly794insGlySerPro) c.2442_2447delinsCGGAGTGGGCTCCCC (p.Val816_Gly817insGlySerPro) c.2427_2432delinsCGGAGTGGGCTCCCC (p.Val811_Gly812insGlySerPro) c.2406_2411delinsCGGAGTGGGCTCCCC (p.Val804_Gly805insGlySerPro) c.2400_2405delinsCGGAGTGGGCTCCCC (p.Val802_Gly803insGlySerPro) c.2355_2360delinsCGGAGTGGGCTCCCC (p.Val787_Gly788insGlySerPro) c.2346_2351delinsCGGAGTGGGCTCCCC (p.Val784_Gly785insGlySerPro) c.2322_2327delinsCGGAGTGGGCTCCCC (p.Val776_Gly777insGlySerPro) c.2316_2321delinsCGGAGTGGGCTCCCC (p.Val774_Gly775insGlySerPro) c.2289_2294delinsCGGAGTGGGCTCCCC (p.Val765_Gly766insGlySerPro) c.2283_2288delinsCGGAGTGGGCTCCCC (p.Val763_Gly764insGlySerPro) c.2277_2282delinsCGGAGTGGGCTCCCC (p.Val761_Gly762insGlySerPro) c.2226_2231delinsCGGAGTGGGCTCCCC (p.Val744_Gly745insGlySerPro) c.2145_2150delinsCGGAGTGGGCTCCCC (p.Val717_Gly718insGlySerPro) c.2308-306_2308-301delinsCGGAGTGGGCTCCCC (n.2308-306_2308-301delinsCGGAGTGGGCTCCCC) c.2067_2072delinsCGGAGTGGGCTCCCC (p.Val691_Gly692insGlySerPro) c.2208+1083_2208+1088delinsCGGAGTGGGCTCCCC (n.2208+1083_2208+1088delinsCGGAGTGGGCTCCCC) c.1287_1292delinsCGGAGTGGGCTCCCC (p.Val431_Gly432insGlySerPro) n.2563_2568delinsCGGAGTGGGCTCCCC | |
17 | g.39724743_39724744insACAGTGATGGCG | CA2825000811 | ERBB2 | c.2325_2326insACAGTGATGGCG (p.Ala775_Gly776insThrValMetAla) c.2235_2236insACAGTGATGGCG (p.Ala745_Gly746insThrValMetAla) c.1497_1498insACAGTGATGGCG (p.Ala499_Gly500insThrValMetAla) c.2280_2281insACAGTGATGGCG (p.Ala760_Gly761insThrValMetAla) c.*2115_*2116insACAGTGATGGCG (n.*2115_*2116insACAGTGATGGCG) c.431_432insACAGTGATGGCG n.3459_3460insACAGTGATGGCG n.2649_2650insACAGTGATGGCG c.2463_2464insACAGTGATGGCG (p.Ala821_Gly822insThrValMetAla) c.2418_2419insACAGTGATGGCG (p.Ala806_Gly807insThrValMetAla) c.2373_2374insACAGTGATGGCG (p.Ala791_Gly792insThrValMetAla) c.2442_2443insACAGTGATGGCG (p.Ala814_Gly815insThrValMetAla) c.2427_2428insACAGTGATGGCG (p.Ala809_Gly810insThrValMetAla) c.2406_2407insACAGTGATGGCG (p.Ala802_Gly803insThrValMetAla) c.2400_2401insACAGTGATGGCG (p.Ala800_Gly801insThrValMetAla) c.2355_2356insACAGTGATGGCG (p.Ala785_Gly786insThrValMetAla) c.2346_2347insACAGTGATGGCG (p.Ala782_Gly783insThrValMetAla) c.2322_2323insACAGTGATGGCG (p.Ala774_Gly775insThrValMetAla) c.2316_2317insACAGTGATGGCG (p.Ala772_Gly773insThrValMetAla) c.2289_2290insACAGTGATGGCG (p.Ala763_Gly764insThrValMetAla) c.2283_2284insACAGTGATGGCG (p.Ala761_Gly762insThrValMetAla) c.2277_2278insACAGTGATGGCG (p.Ala759_Gly760insThrValMetAla) c.2226_2227insACAGTGATGGCG (p.Ala742_Gly743insThrValMetAla) c.2145_2146insACAGTGATGGCG (p.Ala715_Gly716insThrValMetAla) c.2308-306_2308-305insACAGTGATGGCG (n.2308-306_2308-305insACAGTGATGGCG) c.2067_2068insACAGTGATGGCG (p.Ala689_Gly690insThrValMetAla) c.2208+1083_2208+1084insACAGTGATGGCG (n.2208+1083_2208+1084insACAGTGATGGCG) c.1287_1288insACAGTGATGGCG (p.Ala429_Gly430insThrValMetAla) n.2563_2564insACAGTGATGGCG | |
17 | g.39724744G>A | CA210550 | ERBB2 | c.2326G>A (p.Gly776Ser) c.2236G>A (p.Gly746Ser) c.1498G>A (p.Gly500Ser) c.2281G>A (p.Gly761Ser) c.*2116G>A (n.*2116G>A) c.432G>A n.3460G>A n.2650G>A c.2464G>A (p.Gly822Ser) c.2419G>A (p.Gly807Ser) c.2374G>A (p.Gly792Ser) c.2443G>A (p.Gly815Ser) c.2428G>A (p.Gly810Ser) c.2407G>A (p.Gly803Ser) c.2401G>A (p.Gly801Ser) c.2356G>A (p.Gly786Ser) c.2347G>A (p.Gly783Ser) c.2323G>A (p.Gly775Ser) c.2317G>A (p.Gly773Ser) c.2290G>A (p.Gly764Ser) c.2284G>A (p.Gly762Ser) c.2278G>A (p.Gly760Ser) c.2227G>A (p.Gly743Ser) c.2146G>A (p.Gly716Ser) c.2308-305G>A (n.2308-305G>A) c.2068G>A (p.Gly690Ser) c.2208+1084G>A (n.2208+1084G>A) c.1288G>A (p.Gly430Ser) n.2564G>A | ClinVar dbSNP COSMIC |
17 | g.39724744G>C | CA399302848 | ERBB2 | c.2326G>C (p.Gly776Arg) c.2236G>C (p.Gly746Arg) c.1498G>C (p.Gly500Arg) c.2281G>C (p.Gly761Arg) c.*2116G>C (n.*2116G>C) c.432G>C n.3460G>C n.2650G>C c.2464G>C (p.Gly822Arg) c.2419G>C (p.Gly807Arg) c.2374G>C (p.Gly792Arg) c.2443G>C (p.Gly815Arg) c.2428G>C (p.Gly810Arg) c.2407G>C (p.Gly803Arg) c.2401G>C (p.Gly801Arg) c.2356G>C (p.Gly786Arg) c.2347G>C (p.Gly783Arg) c.2323G>C (p.Gly775Arg) c.2317G>C (p.Gly773Arg) c.2290G>C (p.Gly764Arg) c.2284G>C (p.Gly762Arg) c.2278G>C (p.Gly760Arg) c.2227G>C (p.Gly743Arg) c.2146G>C (p.Gly716Arg) c.2308-305G>C (n.2308-305G>C) c.2068G>C (p.Gly690Arg) c.2208+1084G>C (n.2208+1084G>C) c.1288G>C (p.Gly430Arg) n.2564G>C | gnomAD v4 |
17 | g.39724744G= | CA2259227982 | ERBB2 | c.2326G= (p.Gly776=) c.2236G= (p.Gly746=) c.1498G= (p.Gly500=) c.2281G= (p.Gly761=) c.*2116G= (n.*2116G=) c.432G= n.3460G= n.2650G= c.2464G= (p.Gly822=) c.2419G= (p.Gly807=) c.2374G= (p.Gly792=) c.2443G= (p.Gly815=) c.2428G= (p.Gly810=) c.2407G= (p.Gly803=) c.2401G= (p.Gly801=) c.2356G= (p.Gly786=) c.2347G= (p.Gly783=) c.2323G= (p.Gly775=) c.2317G= (p.Gly773=) c.2290G= (p.Gly764=) c.2284G= (p.Gly762=) c.2278G= (p.Gly760=) c.2227G= (p.Gly743=) c.2146G= (p.Gly716=) c.2308-305G= (n.2308-305G=) c.2068G= (p.Gly690=) c.2208+1084G= (n.2208+1084G=) c.1288G= (p.Gly430=) n.2564G= | |
17 | g.39724744G>T | CA399302850 | ERBB2 | c.2326G>T (p.Gly776Cys) c.2236G>T (p.Gly746Cys) c.1498G>T (p.Gly500Cys) c.2281G>T (p.Gly761Cys) c.*2116G>T (n.*2116G>T) c.432G>T n.3460G>T n.2650G>T c.2464G>T (p.Gly822Cys) c.2419G>T (p.Gly807Cys) c.2374G>T (p.Gly792Cys) c.2443G>T (p.Gly815Cys) c.2428G>T (p.Gly810Cys) c.2407G>T (p.Gly803Cys) c.2401G>T (p.Gly801Cys) c.2356G>T (p.Gly786Cys) c.2347G>T (p.Gly783Cys) c.2323G>T (p.Gly775Cys) c.2317G>T (p.Gly773Cys) c.2290G>T (p.Gly764Cys) c.2284G>T (p.Gly762Cys) c.2278G>T (p.Gly760Cys) c.2227G>T (p.Gly743Cys) c.2146G>T (p.Gly716Cys) c.2308-305G>T (n.2308-305G>T) c.2068G>T (p.Gly690Cys) c.2208+1084G>T (n.2208+1084G>T) c.1288G>T (p.Gly430Cys) n.2564G>T | dbSNP COSMIC |
17 | g.39724744delinsCTTT | CA645578281 | ERBB2 | c.2326delinsCTTT (p.Gly776delinsLeuCys) c.2236delinsCTTT (p.Gly746delinsLeuCys) c.1498delinsCTTT (p.Gly500delinsLeuCys) c.2281delinsCTTT (p.Gly761delinsLeuCys) c.*2116delinsCTTT (n.*2116delinsCTTT) c.432delinsCTTT n.3460delinsCTTT n.2650delinsCTTT c.2464delinsCTTT (p.Gly822delinsLeuCys) c.2419delinsCTTT (p.Gly807delinsLeuCys) c.2374delinsCTTT (p.Gly792delinsLeuCys) c.2443delinsCTTT (p.Gly815delinsLeuCys) c.2428delinsCTTT (p.Gly810delinsLeuCys) c.2407delinsCTTT (p.Gly803delinsLeuCys) c.2401delinsCTTT (p.Gly801delinsLeuCys) c.2356delinsCTTT (p.Gly786delinsLeuCys) c.2347delinsCTTT (p.Gly783delinsLeuCys) c.2323delinsCTTT (p.Gly775delinsLeuCys) c.2317delinsCTTT (p.Gly773delinsLeuCys) c.2290delinsCTTT (p.Gly764delinsLeuCys) c.2284delinsCTTT (p.Gly762delinsLeuCys) c.2278delinsCTTT (p.Gly760delinsLeuCys) c.2227delinsCTTT (p.Gly743delinsLeuCys) c.2146delinsCTTT (p.Gly716delinsLeuCys) c.2308-305delinsCTTT (n.2308-305delinsCTTT) c.2068delinsCTTT (p.Gly690delinsLeuCys) c.2208+1084delinsCTTT (n.2208+1084delinsCTTT) c.1288delinsCTTT (p.Gly430delinsLeuCys) n.2564delinsCTTT | dbSNP COSMIC |
17 | g.39724744delinsTTAT | CA135380 | ERBB2 | c.2326delinsTTAT (p.Gly776delinsLeuCys) c.2236delinsTTAT (p.Gly746delinsLeuCys) c.1498delinsTTAT (p.Gly500delinsLeuCys) c.2281delinsTTAT (p.Gly761delinsLeuCys) c.*2116delinsTTAT (n.*2116delinsTTAT) c.432delinsTTAT n.3460delinsTTAT n.2650delinsTTAT c.2464delinsTTAT (p.Gly822delinsLeuCys) c.2419delinsTTAT (p.Gly807delinsLeuCys) c.2374delinsTTAT (p.Gly792delinsLeuCys) c.2443delinsTTAT (p.Gly815delinsLeuCys) c.2428delinsTTAT (p.Gly810delinsLeuCys) c.2407delinsTTAT (p.Gly803delinsLeuCys) c.2401delinsTTAT (p.Gly801delinsLeuCys) c.2356delinsTTAT (p.Gly786delinsLeuCys) c.2347delinsTTAT (p.Gly783delinsLeuCys) c.2323delinsTTAT (p.Gly775delinsLeuCys) c.2317delinsTTAT (p.Gly773delinsLeuCys) c.2290delinsTTAT (p.Gly764delinsLeuCys) c.2284delinsTTAT (p.Gly762delinsLeuCys) c.2278delinsTTAT (p.Gly760delinsLeuCys) c.2227delinsTTAT (p.Gly743delinsLeuCys) c.2146delinsTTAT (p.Gly716delinsLeuCys) c.2308-305delinsTTAT (n.2308-305delinsTTAT) c.2068delinsTTAT (p.Gly690delinsLeuCys) c.2208+1084delinsTTAT (n.2208+1084delinsTTAT) c.1288delinsTTAT (p.Gly430delinsLeuCys) n.2564delinsTTAT | ClinVar dbSNP COSMIC |
17 | g.39724744delinsTTGT | CA645578282 | ERBB2 | c.2326delinsTTGT (p.Gly776delinsLeuCys) c.2236delinsTTGT (p.Gly746delinsLeuCys) c.1498delinsTTGT (p.Gly500delinsLeuCys) c.2281delinsTTGT (p.Gly761delinsLeuCys) c.*2116delinsTTGT (n.*2116delinsTTGT) c.432delinsTTGT n.3460delinsTTGT n.2650delinsTTGT c.2464delinsTTGT (p.Gly822delinsLeuCys) c.2419delinsTTGT (p.Gly807delinsLeuCys) c.2374delinsTTGT (p.Gly792delinsLeuCys) c.2443delinsTTGT (p.Gly815delinsLeuCys) c.2428delinsTTGT (p.Gly810delinsLeuCys) c.2407delinsTTGT (p.Gly803delinsLeuCys) c.2401delinsTTGT (p.Gly801delinsLeuCys) c.2356delinsTTGT (p.Gly786delinsLeuCys) c.2347delinsTTGT (p.Gly783delinsLeuCys) c.2323delinsTTGT (p.Gly775delinsLeuCys) c.2317delinsTTGT (p.Gly773delinsLeuCys) c.2290delinsTTGT (p.Gly764delinsLeuCys) c.2284delinsTTGT (p.Gly762delinsLeuCys) c.2278delinsTTGT (p.Gly760delinsLeuCys) c.2227delinsTTGT (p.Gly743delinsLeuCys) c.2146delinsTTGT (p.Gly716delinsLeuCys) c.2308-305delinsTTGT (n.2308-305delinsTTGT) c.2068delinsTTGT (p.Gly690delinsLeuCys) c.2208+1084delinsTTGT (n.2208+1084delinsTTGT) c.1288delinsTTGT (p.Gly430delinsLeuCys) n.2564delinsTTGT | dbSNP COSMIC |
17 | g.39724744_39724745insTGG | CA2825000810 | ERBB2 | c.2326_2327insTGG (p.Ala775_Gly776insVal) c.2236_2237insTGG (p.Ala745_Gly746insVal) c.1498_1499insTGG (p.Ala499_Gly500insVal) c.2281_2282insTGG (p.Ala760_Gly761insVal) c.*2116_*2117insTGG (n.*2116_*2117insTGG) c.432_433insTGG n.3460_3461insTGG n.2650_2651insTGG c.2464_2465insTGG (p.Ala821_Gly822insVal) c.2419_2420insTGG (p.Ala806_Gly807insVal) c.2374_2375insTGG (p.Ala791_Gly792insVal) c.2443_2444insTGG (p.Ala814_Gly815insVal) c.2428_2429insTGG (p.Ala809_Gly810insVal) c.2407_2408insTGG (p.Ala802_Gly803insVal) c.2401_2402insTGG (p.Ala800_Gly801insVal) c.2356_2357insTGG (p.Ala785_Gly786insVal) c.2347_2348insTGG (p.Ala782_Gly783insVal) c.2323_2324insTGG (p.Ala774_Gly775insVal) c.2317_2318insTGG (p.Ala772_Gly773insVal) c.2290_2291insTGG (p.Ala763_Gly764insVal) c.2284_2285insTGG (p.Ala761_Gly762insVal) c.2278_2279insTGG (p.Ala759_Gly760insVal) c.2227_2228insTGG (p.Ala742_Gly743insVal) c.2146_2147insTGG (p.Ala715_Gly716insVal) c.2308-305_2308-304insTGG (n.2308-305_2308-304insTGG) c.2068_2069insTGG (p.Ala689_Gly690insVal) c.2208+1084_2208+1085insTGG (n.2208+1084_2208+1085insTGG) c.1288_1289insTGG (p.Ala429_Gly430insVal) n.2564_2565insTGG | |
17 | g.39724744_39724745delinsCT | CA913189238 | ERBB2 | c.2326_2327delinsCT (p.Gly776Leu) c.2236_2237delinsCT (p.Gly746Leu) c.1498_1499delinsCT (p.Gly500Leu) c.2281_2282delinsCT (p.Gly761Leu) c.*2116_*2117delinsCT (n.*2116_*2117delinsCT) c.432_433delinsCT n.3460_3461delinsCT n.2650_2651delinsCT c.2464_2465delinsCT (p.Gly822Leu) c.2419_2420delinsCT (p.Gly807Leu) c.2374_2375delinsCT (p.Gly792Leu) c.2443_2444delinsCT (p.Gly815Leu) c.2428_2429delinsCT (p.Gly810Leu) c.2407_2408delinsCT (p.Gly803Leu) c.2401_2402delinsCT (p.Gly801Leu) c.2356_2357delinsCT (p.Gly786Leu) c.2347_2348delinsCT (p.Gly783Leu) c.2323_2324delinsCT (p.Gly775Leu) c.2317_2318delinsCT (p.Gly773Leu) c.2290_2291delinsCT (p.Gly764Leu) c.2284_2285delinsCT (p.Gly762Leu) c.2278_2279delinsCT (p.Gly760Leu) c.2227_2228delinsCT (p.Gly743Leu) c.2146_2147delinsCT (p.Gly716Leu) c.2308-305_2308-304delinsCT (n.2308-305_2308-304delinsCT) c.2068_2069delinsCT (p.Gly690Leu) c.2208+1084_2208+1085delinsCT (n.2208+1084_2208+1085delinsCT) c.1288_1289delinsCT (p.Gly430Leu) n.2564_2565delinsCT | |
17 | g.39724744_39724745delinsTGT | CA2580618244 | ERBB2 | c.2326_2327delinsTGT (p.Gly776CysfsTer?) c.2236_2237delinsTGT (p.Gly746CysfsTer?) c.1498_1499delinsTGT (p.Gly500CysfsTer?) c.2281_2282delinsTGT (p.Gly761CysfsTer?) c.*2116_*2117delinsTGT (n.*2116_*2117delinsTGT) c.432_433delinsTGT n.3460_3461delinsTGT n.2650_2651delinsTGT c.2464_2465delinsTGT (p.Gly822CysfsTer?) c.2419_2420delinsTGT (p.Gly807CysfsTer?) c.2374_2375delinsTGT (p.Gly792CysfsTer?) c.2443_2444delinsTGT (p.Gly815CysfsTer?) c.2428_2429delinsTGT (p.Gly810CysfsTer?) c.2407_2408delinsTGT (p.Gly803CysfsTer?) c.2401_2402delinsTGT (p.Gly801CysfsTer?) c.2356_2357delinsTGT (p.Gly786CysfsTer?) c.2347_2348delinsTGT (p.Gly783CysfsTer?) c.2323_2324delinsTGT (p.Gly775CysfsTer?) c.2317_2318delinsTGT (p.Gly773CysfsTer?) c.2290_2291delinsTGT (p.Gly764CysfsTer?) c.2284_2285delinsTGT (p.Gly762CysfsTer?) c.2278_2279delinsTGT (p.Gly760CysfsTer?) c.2227_2228delinsTGT (p.Gly743CysfsTer?) c.2146_2147delinsTGT (p.Gly716CysfsTer?) c.2308-305_2308-304delinsTGT (n.2308-305_2308-304delinsTGT) c.2068_2069delinsTGT (p.Gly690CysfsTer?) c.2208+1084_2208+1085delinsTGT (n.2208+1084_2208+1085delinsTGT) c.1288_1289delinsTGT (p.Gly430CysfsTer?) n.2564_2565delinsTGT | |
17 | g.39724744_39724748delinsTGTGTATGTGG | CA2830665548 | ERBB2 | c.2326_2330delinsTGTGTATGTGG (p.Gly776_Val777delinsCysValCysGly) c.2236_2240delinsTGTGTATGTGG (p.Gly746_Val747delinsCysValCysGly) c.1498_1502delinsTGTGTATGTGG (p.Gly500_Val501delinsCysValCysGly) c.2281_2285delinsTGTGTATGTGG (p.Gly761_Val762delinsCysValCysGly) c.*2116_*2120delinsTGTGTATGTGG (n.*2116_*2120delinsTGTGTATGTGG) c.432_436delinsTGTGTATGTGG n.3460_3464delinsTGTGTATGTGG n.2650_2654delinsTGTGTATGTGG c.2464_2468delinsTGTGTATGTGG (p.Gly822_Val823delinsCysValCysGly) c.2419_2423delinsTGTGTATGTGG (p.Gly807_Val808delinsCysValCysGly) c.2374_2378delinsTGTGTATGTGG (p.Gly792_Val793delinsCysValCysGly) c.2443_2447delinsTGTGTATGTGG (p.Gly815_Val816delinsCysValCysGly) c.2428_2432delinsTGTGTATGTGG (p.Gly810_Val811delinsCysValCysGly) c.2407_2411delinsTGTGTATGTGG (p.Gly803_Val804delinsCysValCysGly) c.2401_2405delinsTGTGTATGTGG (p.Gly801_Val802delinsCysValCysGly) c.2356_2360delinsTGTGTATGTGG (p.Gly786_Val787delinsCysValCysGly) c.2347_2351delinsTGTGTATGTGG (p.Gly783_Val784delinsCysValCysGly) c.2323_2327delinsTGTGTATGTGG (p.Gly775_Val776delinsCysValCysGly) c.2317_2321delinsTGTGTATGTGG (p.Gly773_Val774delinsCysValCysGly) c.2290_2294delinsTGTGTATGTGG (p.Gly764_Val765delinsCysValCysGly) c.2284_2288delinsTGTGTATGTGG (p.Gly762_Val763delinsCysValCysGly) c.2278_2282delinsTGTGTATGTGG (p.Gly760_Val761delinsCysValCysGly) c.2227_2231delinsTGTGTATGTGG (p.Gly743_Val744delinsCysValCysGly) c.2146_2150delinsTGTGTATGTGG (p.Gly716_Val717delinsCysValCysGly) c.2308-305_2308-301delinsTGTGTATGTGG (n.2308-305_2308-301delinsTGTGTATGTGG) c.2068_2072delinsTGTGTATGTGG (p.Gly690_Val691delinsCysValCysGly) c.2208+1084_2208+1088delinsTGTGTATGTGG (n.2208+1084_2208+1088delinsTGTGTATGTGG) c.1288_1292delinsTGTGTATGTGG (p.Gly430_Val431delinsCysValCysGly) n.2564_2568delinsTGTGTATGTGG | |
17 | g.39724744_39724745insTAT | CA2733207352 | ERBB2 | c.2326_2327insTAT (p.Gly776delinsValCys) c.2236_2237insTAT (p.Gly746delinsValCys) c.1498_1499insTAT (p.Gly500delinsValCys) c.2281_2282insTAT (p.Gly761delinsValCys) c.*2116_*2117insTAT (n.*2116_*2117insTAT) c.432_433insTAT n.3460_3461insTAT n.2650_2651insTAT c.2464_2465insTAT (p.Gly822delinsValCys) c.2419_2420insTAT (p.Gly807delinsValCys) c.2374_2375insTAT (p.Gly792delinsValCys) c.2443_2444insTAT (p.Gly815delinsValCys) c.2428_2429insTAT (p.Gly810delinsValCys) c.2407_2408insTAT (p.Gly803delinsValCys) c.2401_2402insTAT (p.Gly801delinsValCys) c.2356_2357insTAT (p.Gly786delinsValCys) c.2347_2348insTAT (p.Gly783delinsValCys) c.2323_2324insTAT (p.Gly775delinsValCys) c.2317_2318insTAT (p.Gly773delinsValCys) c.2290_2291insTAT (p.Gly764delinsValCys) c.2284_2285insTAT (p.Gly762delinsValCys) c.2278_2279insTAT (p.Gly760delinsValCys) c.2227_2228insTAT (p.Gly743delinsValCys) c.2146_2147insTAT (p.Gly716delinsValCys) c.2308-305_2308-304insTAT (n.2308-305_2308-304insTAT) c.2068_2069insTAT (p.Gly690delinsValCys) c.2208+1084_2208+1085insTAT (n.2208+1084_2208+1085insTAT) c.1288_1289insTAT (p.Gly430delinsValCys) n.2564_2565insTAT | dbSNP |
17 | g.39724744_39724745insTCT | CA135371 | ERBB2 | c.2326_2327insTCT (p.Gly776delinsValCys) c.2236_2237insTCT (p.Gly746delinsValCys) c.1498_1499insTCT (p.Gly500delinsValCys) c.2281_2282insTCT (p.Gly761delinsValCys) c.*2116_*2117insTCT (n.*2116_*2117insTCT) c.432_433insTCT n.3460_3461insTCT n.2650_2651insTCT c.2464_2465insTCT (p.Gly822delinsValCys) c.2419_2420insTCT (p.Gly807delinsValCys) c.2374_2375insTCT (p.Gly792delinsValCys) c.2443_2444insTCT (p.Gly815delinsValCys) c.2428_2429insTCT (p.Gly810delinsValCys) c.2407_2408insTCT (p.Gly803delinsValCys) c.2401_2402insTCT (p.Gly801delinsValCys) c.2356_2357insTCT (p.Gly786delinsValCys) c.2347_2348insTCT (p.Gly783delinsValCys) c.2323_2324insTCT (p.Gly775delinsValCys) c.2317_2318insTCT (p.Gly773delinsValCys) c.2290_2291insTCT (p.Gly764delinsValCys) c.2284_2285insTCT (p.Gly762delinsValCys) c.2278_2279insTCT (p.Gly760delinsValCys) c.2227_2228insTCT (p.Gly743delinsValCys) c.2146_2147insTCT (p.Gly716delinsValCys) c.2308-305_2308-304insTCT (n.2308-305_2308-304insTCT) c.2068_2069insTCT (p.Gly690delinsValCys) c.2208+1084_2208+1085insTCT (n.2208+1084_2208+1085insTCT) c.1288_1289insTCT (p.Gly430delinsValCys) n.2564_2565insTCT | ClinVar dbSNP COSMIC |
17 | g.39724744_39724745insTGT | CA135378 | ERBB2 | c.2326_2327insTGT (p.Gly776delinsValCys) c.2236_2237insTGT (p.Gly746delinsValCys) c.1498_1499insTGT (p.Gly500delinsValCys) c.2281_2282insTGT (p.Gly761delinsValCys) c.*2116_*2117insTGT (n.*2116_*2117insTGT) c.432_433insTGT n.3460_3461insTGT n.2650_2651insTGT c.2464_2465insTGT (p.Gly822delinsValCys) c.2419_2420insTGT (p.Gly807delinsValCys) c.2374_2375insTGT (p.Gly792delinsValCys) c.2443_2444insTGT (p.Gly815delinsValCys) c.2428_2429insTGT (p.Gly810delinsValCys) c.2407_2408insTGT (p.Gly803delinsValCys) c.2401_2402insTGT (p.Gly801delinsValCys) c.2356_2357insTGT (p.Gly786delinsValCys) c.2347_2348insTGT (p.Gly783delinsValCys) c.2323_2324insTGT (p.Gly775delinsValCys) c.2317_2318insTGT (p.Gly773delinsValCys) c.2290_2291insTGT (p.Gly764delinsValCys) c.2284_2285insTGT (p.Gly762delinsValCys) c.2278_2279insTGT (p.Gly760delinsValCys) c.2227_2228insTGT (p.Gly743delinsValCys) c.2146_2147insTGT (p.Gly716delinsValCys) c.2308-305_2308-304insTGT (n.2308-305_2308-304insTGT) c.2068_2069insTGT (p.Gly690delinsValCys) c.2208+1084_2208+1085insTGT (n.2208+1084_2208+1085insTGT) c.1288_1289insTGT (p.Gly430delinsValCys) n.2564_2565insTGT | ClinVar dbSNP COSMIC |
17 | g.39724744_39724745insTTT | CA135379 | ERBB2 | c.2326_2327insTTT (p.Gly776delinsValCys) c.2236_2237insTTT (p.Gly746delinsValCys) c.1498_1499insTTT (p.Gly500delinsValCys) c.2281_2282insTTT (p.Gly761delinsValCys) c.*2116_*2117insTTT (n.*2116_*2117insTTT) c.432_433insTTT n.3460_3461insTTT n.2650_2651insTTT c.2464_2465insTTT (p.Gly822delinsValCys) c.2419_2420insTTT (p.Gly807delinsValCys) c.2374_2375insTTT (p.Gly792delinsValCys) c.2443_2444insTTT (p.Gly815delinsValCys) c.2428_2429insTTT (p.Gly810delinsValCys) c.2407_2408insTTT (p.Gly803delinsValCys) c.2401_2402insTTT (p.Gly801delinsValCys) c.2356_2357insTTT (p.Gly786delinsValCys) c.2347_2348insTTT (p.Gly783delinsValCys) c.2323_2324insTTT (p.Gly775delinsValCys) c.2317_2318insTTT (p.Gly773delinsValCys) c.2290_2291insTTT (p.Gly764delinsValCys) c.2284_2285insTTT (p.Gly762delinsValCys) c.2278_2279insTTT (p.Gly760delinsValCys) c.2227_2228insTTT (p.Gly743delinsValCys) c.2146_2147insTTT (p.Gly716delinsValCys) c.2308-305_2308-304insTTT (n.2308-305_2308-304insTTT) c.2068_2069insTTT (p.Gly690delinsValCys) c.2208+1084_2208+1085insTTT (n.2208+1084_2208+1085insTTT) c.1288_1289insTTT (p.Gly430delinsValCys) n.2564_2565insTTT | ClinVar dbSNP COSMIC |
17 | g.39724745G>A | CA8534280 | ERBB2 | c.2327G>A (p.Gly776Asp) c.2237G>A (p.Gly746Asp) c.1499G>A (p.Gly500Asp) c.2282G>A (p.Gly761Asp) c.*2117G>A (n.*2117G>A) c.433G>A n.3461G>A n.2651G>A c.2465G>A (p.Gly822Asp) c.2420G>A (p.Gly807Asp) c.2375G>A (p.Gly792Asp) c.2444G>A (p.Gly815Asp) c.2429G>A (p.Gly810Asp) c.2408G>A (p.Gly803Asp) c.2402G>A (p.Gly801Asp) c.2357G>A (p.Gly786Asp) c.2348G>A (p.Gly783Asp) c.2324G>A (p.Gly775Asp) c.2318G>A (p.Gly773Asp) c.2291G>A (p.Gly764Asp) c.2285G>A (p.Gly762Asp) c.2279G>A (p.Gly760Asp) c.2228G>A (p.Gly743Asp) c.2147G>A (p.Gly716Asp) c.2308-304G>A (n.2308-304G>A) c.2069G>A (p.Gly690Asp) c.2208+1085G>A (n.2208+1085G>A) c.1289G>A (p.Gly430Asp) n.2565G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724745G>C | CA8534281 | ERBB2 | c.2327G>C (p.Gly776Ala) c.2237G>C (p.Gly746Ala) c.1499G>C (p.Gly500Ala) c.2282G>C (p.Gly761Ala) c.*2117G>C (n.*2117G>C) c.433G>C n.3461G>C n.2651G>C c.2465G>C (p.Gly822Ala) c.2420G>C (p.Gly807Ala) c.2375G>C (p.Gly792Ala) c.2444G>C (p.Gly815Ala) c.2429G>C (p.Gly810Ala) c.2408G>C (p.Gly803Ala) c.2402G>C (p.Gly801Ala) c.2357G>C (p.Gly786Ala) c.2348G>C (p.Gly783Ala) c.2324G>C (p.Gly775Ala) c.2318G>C (p.Gly773Ala) c.2291G>C (p.Gly764Ala) c.2285G>C (p.Gly762Ala) c.2279G>C (p.Gly760Ala) c.2228G>C (p.Gly743Ala) c.2147G>C (p.Gly716Ala) c.2308-304G>C (n.2308-304G>C) c.2069G>C (p.Gly690Ala) c.2208+1085G>C (n.2208+1085G>C) c.1289G>C (p.Gly430Ala) n.2565G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724745G= | CA2259227983 | ERBB2 | c.2327G= (p.Gly776=) c.2237G= (p.Gly746=) c.1499G= (p.Gly500=) c.2282G= (p.Gly761=) c.*2117G= (n.*2117G=) c.433G= n.3461G= n.2651G= c.2465G= (p.Gly822=) c.2420G= (p.Gly807=) c.2375G= (p.Gly792=) c.2444G= (p.Gly815=) c.2429G= (p.Gly810=) c.2408G= (p.Gly803=) c.2402G= (p.Gly801=) c.2357G= (p.Gly786=) c.2348G= (p.Gly783=) c.2324G= (p.Gly775=) c.2318G= (p.Gly773=) c.2291G= (p.Gly764=) c.2285G= (p.Gly762=) c.2279G= (p.Gly760=) c.2228G= (p.Gly743=) c.2147G= (p.Gly716=) c.2308-304G= (n.2308-304G=) c.2069G= (p.Gly690=) c.2208+1085G= (n.2208+1085G=) c.1289G= (p.Gly430=) n.2565G= | |
17 | g.39724745G>T | CA176042 | ERBB2 | c.2327G>T (p.Gly776Val) c.2237G>T (p.Gly746Val) c.1499G>T (p.Gly500Val) c.2282G>T (p.Gly761Val) c.*2117G>T (n.*2117G>T) c.433G>T n.3461G>T n.2651G>T c.2465G>T (p.Gly822Val) c.2420G>T (p.Gly807Val) c.2375G>T (p.Gly792Val) c.2444G>T (p.Gly815Val) c.2429G>T (p.Gly810Val) c.2408G>T (p.Gly803Val) c.2402G>T (p.Gly801Val) c.2357G>T (p.Gly786Val) c.2348G>T (p.Gly783Val) c.2324G>T (p.Gly775Val) c.2318G>T (p.Gly773Val) c.2291G>T (p.Gly764Val) c.2285G>T (p.Gly762Val) c.2279G>T (p.Gly760Val) c.2228G>T (p.Gly743Val) c.2147G>T (p.Gly716Val) c.2308-304G>T (n.2308-304G>T) c.2069G>T (p.Gly690Val) c.2208+1085G>T (n.2208+1085G>T) c.1289G>T (p.Gly430Val) n.2565G>T | ClinVar dbSNP COSMIC |
17 | g.39724745_39724746insGGTTTG | CA2830665549 | ERBB2 | c.2327_2328insGGTTTG (p.Gly776_Val777insValCys) c.2237_2238insGGTTTG (p.Gly746_Val747insValCys) c.1499_1500insGGTTTG (p.Gly500_Val501insValCys) c.2282_2283insGGTTTG (p.Gly761_Val762insValCys) c.*2117_*2118insGGTTTG (n.*2117_*2118insGGTTTG) c.433_434insGGTTTG n.3461_3462insGGTTTG n.2651_2652insGGTTTG c.2465_2466insGGTTTG (p.Gly822_Val823insValCys) c.2420_2421insGGTTTG (p.Gly807_Val808insValCys) c.2375_2376insGGTTTG (p.Gly792_Val793insValCys) c.2444_2445insGGTTTG (p.Gly815_Val816insValCys) c.2429_2430insGGTTTG (p.Gly810_Val811insValCys) c.2408_2409insGGTTTG (p.Gly803_Val804insValCys) c.2402_2403insGGTTTG (p.Gly801_Val802insValCys) c.2357_2358insGGTTTG (p.Gly786_Val787insValCys) c.2348_2349insGGTTTG (p.Gly783_Val784insValCys) c.2324_2325insGGTTTG (p.Gly775_Val776insValCys) c.2318_2319insGGTTTG (p.Gly773_Val774insValCys) c.2291_2292insGGTTTG (p.Gly764_Val765insValCys) c.2285_2286insGGTTTG (p.Gly762_Val763insValCys) c.2279_2280insGGTTTG (p.Gly760_Val761insValCys) c.2228_2229insGGTTTG (p.Gly743_Val744insValCys) c.2147_2148insGGTTTG (p.Gly716_Val717insValCys) c.2308-304_2308-303insGGTTTG (n.2308-304_2308-303insGGTTTG) c.2069_2070insGGTTTG (p.Gly690_Val691insValCys) c.2208+1085_2208+1086insGGTTTG (n.2208+1085_2208+1086insGGTTTG) c.1289_1290insGGTTTG (p.Gly430_Val431insValCys) n.2565_2566insGGTTTG | |
17 | g.39724745_39724746insGGTGGGGTG | CA2825000812 | ERBB2 | c.2327_2328insGGTGGGGTG (p.Gly776_Val777insValGlyCys) c.2237_2238insGGTGGGGTG (p.Gly746_Val747insValGlyCys) c.1499_1500insGGTGGGGTG (p.Gly500_Val501insValGlyCys) c.2282_2283insGGTGGGGTG (p.Gly761_Val762insValGlyCys) c.*2117_*2118insGGTGGGGTG (n.*2117_*2118insGGTGGGGTG) c.433_434insGGTGGGGTG n.3461_3462insGGTGGGGTG n.2651_2652insGGTGGGGTG c.2465_2466insGGTGGGGTG (p.Gly822_Val823insValGlyCys) c.2420_2421insGGTGGGGTG (p.Gly807_Val808insValGlyCys) c.2375_2376insGGTGGGGTG (p.Gly792_Val793insValGlyCys) c.2444_2445insGGTGGGGTG (p.Gly815_Val816insValGlyCys) c.2429_2430insGGTGGGGTG (p.Gly810_Val811insValGlyCys) c.2408_2409insGGTGGGGTG (p.Gly803_Val804insValGlyCys) c.2402_2403insGGTGGGGTG (p.Gly801_Val802insValGlyCys) c.2357_2358insGGTGGGGTG (p.Gly786_Val787insValGlyCys) c.2348_2349insGGTGGGGTG (p.Gly783_Val784insValGlyCys) c.2324_2325insGGTGGGGTG (p.Gly775_Val776insValGlyCys) c.2318_2319insGGTGGGGTG (p.Gly773_Val774insValGlyCys) c.2291_2292insGGTGGGGTG (p.Gly764_Val765insValGlyCys) c.2285_2286insGGTGGGGTG (p.Gly762_Val763insValGlyCys) c.2279_2280insGGTGGGGTG (p.Gly760_Val761insValGlyCys) c.2228_2229insGGTGGGGTG (p.Gly743_Val744insValGlyCys) c.2147_2148insGGTGGGGTG (p.Gly716_Val717insValGlyCys) c.2308-304_2308-303insGGTGGGGTG (n.2308-304_2308-303insGGTGGGGTG) c.2069_2070insGGTGGGGTG (p.Gly690_Val691insValGlyCys) c.2208+1085_2208+1086insGGTGGGGTG (n.2208+1085_2208+1086insGGTGGGGTG) c.1289_1290insGGTGGGGTG (p.Gly430_Val431insValGlyCys) n.2565_2566insGGTGGGGTG | |
17 | g.39724746T>A | CA499670838 | ERBB2 | c.2328T>A (p.Gly776=) c.2238T>A (p.Gly746=) c.1500T>A (p.Gly500=) c.2283T>A (p.Gly761=) c.*2118T>A (n.*2118T>A) c.434T>A n.3462T>A n.2652T>A c.2466T>A (p.Gly822=) c.2421T>A (p.Gly807=) c.2376T>A (p.Gly792=) c.2445T>A (p.Gly815=) c.2430T>A (p.Gly810=) c.2409T>A (p.Gly803=) c.2403T>A (p.Gly801=) c.2358T>A (p.Gly786=) c.2349T>A (p.Gly783=) c.2325T>A (p.Gly775=) c.2319T>A (p.Gly773=) c.2292T>A (p.Gly764=) c.2286T>A (p.Gly762=) c.2280T>A (p.Gly760=) c.2229T>A (p.Gly743=) c.2148T>A (p.Gly716=) c.2308-303T>A (n.2308-303T>A) c.2070T>A (p.Gly690=) c.2208+1086T>A (n.2208+1086T>A) c.1290T>A (p.Gly430=) n.2566T>A | dbSNP |
17 | g.39724746T>C | CA499670839 | ERBB2 | c.2328T>C (p.Gly776=) c.2238T>C (p.Gly746=) c.1500T>C (p.Gly500=) c.2283T>C (p.Gly761=) c.*2118T>C (n.*2118T>C) c.434T>C n.3462T>C n.2652T>C c.2466T>C (p.Gly822=) c.2421T>C (p.Gly807=) c.2376T>C (p.Gly792=) c.2445T>C (p.Gly815=) c.2430T>C (p.Gly810=) c.2409T>C (p.Gly803=) c.2403T>C (p.Gly801=) c.2358T>C (p.Gly786=) c.2349T>C (p.Gly783=) c.2325T>C (p.Gly775=) c.2319T>C (p.Gly773=) c.2292T>C (p.Gly764=) c.2286T>C (p.Gly762=) c.2280T>C (p.Gly760=) c.2229T>C (p.Gly743=) c.2148T>C (p.Gly716=) c.2308-303T>C (n.2308-303T>C) c.2070T>C (p.Gly690=) c.2208+1086T>C (n.2208+1086T>C) c.1290T>C (p.Gly430=) n.2566T>C | dbSNP |
17 | g.39724746T>G | CA499670840 | ERBB2 | c.2328T>G (p.Gly776=) c.2238T>G (p.Gly746=) c.1500T>G (p.Gly500=) c.2283T>G (p.Gly761=) c.*2118T>G (n.*2118T>G) c.434T>G n.3462T>G n.2652T>G c.2466T>G (p.Gly822=) c.2421T>G (p.Gly807=) c.2376T>G (p.Gly792=) c.2445T>G (p.Gly815=) c.2430T>G (p.Gly810=) c.2409T>G (p.Gly803=) c.2403T>G (p.Gly801=) c.2358T>G (p.Gly786=) c.2349T>G (p.Gly783=) c.2325T>G (p.Gly775=) c.2319T>G (p.Gly773=) c.2292T>G (p.Gly764=) c.2286T>G (p.Gly762=) c.2280T>G (p.Gly760=) c.2229T>G (p.Gly743=) c.2148T>G (p.Gly716=) c.2308-303T>G (n.2308-303T>G) c.2070T>G (p.Gly690=) c.2208+1086T>G (n.2208+1086T>G) c.1290T>G (p.Gly430=) n.2566T>G | dbSNP |
17 | g.39724746T= | CA2259227984 | ERBB2 | c.2328T= (p.Gly776=) c.2238T= (p.Gly746=) c.1500T= (p.Gly500=) c.2283T= (p.Gly761=) c.*2118T= (n.*2118T=) c.434T= n.3462T= n.2652T= c.2466T= (p.Gly822=) c.2421T= (p.Gly807=) c.2376T= (p.Gly792=) c.2445T= (p.Gly815=) c.2430T= (p.Gly810=) c.2409T= (p.Gly803=) c.2403T= (p.Gly801=) c.2358T= (p.Gly786=) c.2349T= (p.Gly783=) c.2325T= (p.Gly775=) c.2319T= (p.Gly773=) c.2292T= (p.Gly764=) c.2286T= (p.Gly762=) c.2280T= (p.Gly760=) c.2229T= (p.Gly743=) c.2148T= (p.Gly716=) c.2308-303T= (n.2308-303T=) c.2070T= (p.Gly690=) c.2208+1086T= (n.2208+1086T=) c.1290T= (p.Gly430=) n.2566T= | |
17 | g.39724746_39724747insCTT | CA645578283 | ERBB2 | c.2328_2329insCTT (p.Gly776_Val777insLeu) c.2238_2239insCTT (p.Gly746_Val747insLeu) c.1500_1501insCTT (p.Gly500_Val501insLeu) c.2283_2284insCTT (p.Gly761_Val762insLeu) c.*2118_*2119insCTT (n.*2118_*2119insCTT) c.434_435insCTT n.3462_3463insCTT n.2652_2653insCTT c.2466_2467insCTT (p.Gly822_Val823insLeu) c.2421_2422insCTT (p.Gly807_Val808insLeu) c.2376_2377insCTT (p.Gly792_Val793insLeu) c.2445_2446insCTT (p.Gly815_Val816insLeu) c.2430_2431insCTT (p.Gly810_Val811insLeu) c.2409_2410insCTT (p.Gly803_Val804insLeu) c.2403_2404insCTT (p.Gly801_Val802insLeu) c.2358_2359insCTT (p.Gly786_Val787insLeu) c.2349_2350insCTT (p.Gly783_Val784insLeu) c.2325_2326insCTT (p.Gly775_Val776insLeu) c.2319_2320insCTT (p.Gly773_Val774insLeu) c.2292_2293insCTT (p.Gly764_Val765insLeu) c.2286_2287insCTT (p.Gly762_Val763insLeu) c.2280_2281insCTT (p.Gly760_Val761insLeu) c.2229_2230insCTT (p.Gly743_Val744insLeu) c.2148_2149insCTT (p.Gly716_Val717insLeu) c.2308-303_2308-302insCTT (n.2308-303_2308-302insCTT) c.2070_2071insCTT (p.Gly690_Val691insLeu) c.2208+1086_2208+1087insCTT (n.2208+1086_2208+1087insCTT) c.1290_1291insCTT (p.Gly430_Val431insLeu) n.2566_2567insCTT | dbSNP COSMIC |
17 | g.39724746_39724747delinsTG | CA2259227985 | ERBB2 | c.2328_2329delinsTG (p.Gly776=) c.2238_2239delinsTG (p.Gly746=) c.1500_1501delinsTG (p.Gly500=) c.2283_2284delinsTG (p.Gly761=) c.*2118_*2119delinsTG (n.*2118_*2119delinsTG) c.434_435delinsTG n.3462_3463delinsTG n.2652_2653delinsTG c.2466_2467delinsTG (p.Gly822=) c.2421_2422delinsTG (p.Gly807=) c.2376_2377delinsTG (p.Gly792=) c.2445_2446delinsTG (p.Gly815=) c.2430_2431delinsTG (p.Gly810=) c.2409_2410delinsTG (p.Gly803=) c.2403_2404delinsTG (p.Gly801=) c.2358_2359delinsTG (p.Gly786=) c.2349_2350delinsTG (p.Gly783=) c.2325_2326delinsTG (p.Gly775=) c.2319_2320delinsTG (p.Gly773=) c.2292_2293delinsTG (p.Gly764=) c.2286_2287delinsTG (p.Gly762=) c.2280_2281delinsTG (p.Gly760=) c.2229_2230delinsTG (p.Gly743=) c.2148_2149delinsTG (p.Gly716=) c.2308-303_2308-302delinsTG (n.2308-303_2308-302delinsTG) c.2070_2071delinsTG (p.Gly690=) c.2208+1086_2208+1087delinsTG (n.2208+1086_2208+1087delinsTG) c.1290_1291delinsTG (p.Gly430=) n.2566_2567delinsTG | |
17 | g.39724746_39724754dup | CA123580 | ERBB2 | c.2328_2336dup (p.Ser779_Pro780insValGlySer) c.2238_2246dup (p.Ser749_Pro750insValGlySer) c.1500_1508dup (p.Ser503_Pro504insValGlySer) c.2283_2291dup (p.Ser764_Pro765insValGlySer) c.*2118_*2126dup (n.*2118_*2126dup) c.434_442dup n.3462_3470dup n.2652_2660dup c.2466_2474dup (p.Ser825_Pro826insValGlySer) c.2421_2429dup (p.Ser810_Pro811insValGlySer) c.2376_2384dup (p.Ser795_Pro796insValGlySer) c.2445_2453dup (p.Ser818_Pro819insValGlySer) c.2430_2438dup (p.Ser813_Pro814insValGlySer) c.2409_2417dup (p.Ser806_Pro807insValGlySer) c.2403_2411dup (p.Ser804_Pro805insValGlySer) c.2358_2366dup (p.Ser789_Pro790insValGlySer) c.2349_2357dup (p.Ser786_Pro787insValGlySer) c.2325_2333dup (p.Ser778_Pro779insValGlySer) c.2319_2327dup (p.Ser776_Pro777insValGlySer) c.2292_2300dup (p.Ser767_Pro768insValGlySer) c.2286_2294dup (p.Ser765_Pro766insValGlySer) c.2280_2288dup (p.Ser763_Pro764insValGlySer) c.2229_2237dup (p.Ser746_Pro747insValGlySer) c.2148_2156dup (p.Ser719_Pro720insValGlySer) c.2308-303_2308-295dup (n.2308-303_2308-295dup) c.2070_2078dup (p.Ser693_Pro694insValGlySer) c.2208+1086_2208+1094dup (n.2208+1086_2208+1094dup) c.1290_1298dup (p.Ser433_Pro434insValGlySer) n.2566_2574dup | ClinVar dbSNP COSMIC |
17 | g.39724747del | CA919838687 | ERBB2 | c.2329del (p.Val777TrpfsTer14) c.2239del (p.Val747TrpfsTer14) c.1501del (p.Val501TrpfsTer14) c.2284del (p.Val762TrpfsTer14) c.*2119del (n.*2119del) c.435del n.3463del n.2653del c.2467del (p.Val823TrpfsTer14) c.2422del (p.Val808TrpfsTer14) c.2377del (p.Val793TrpfsTer14) c.2446del (p.Val816TrpfsTer14) c.2431del (p.Val811TrpfsTer14) c.2410del (p.Val804TrpfsTer14) c.2404del (p.Val802TrpfsTer14) c.2359del (p.Val787TrpfsTer14) c.2350del (p.Val784TrpfsTer14) c.2326del (p.Val776TrpfsTer14) c.2320del (p.Val774TrpfsTer14) c.2293del (p.Val765TrpfsTer14) c.2287del (p.Val763TrpfsTer14) c.2281del (p.Val761TrpfsTer14) c.2230del (p.Val744TrpfsTer14) c.2149del (p.Val717TrpfsTer14) c.2308-302del (n.2308-302del) c.2071del (p.Val691TrpfsTer14) c.2208+1087del (n.2208+1087del) c.1291del (p.Val431TrpfsTer14) n.2567del | dbSNP |
17 | g.39724747G>A | CA16602843 | ERBB2 | c.2329G>A (p.Val777Met) c.2239G>A (p.Val747Met) c.1501G>A (p.Val501Met) c.2284G>A (p.Val762Met) c.*2119G>A (n.*2119G>A) c.435G>A n.3463G>A n.2653G>A c.2467G>A (p.Val823Met) c.2422G>A (p.Val808Met) c.2377G>A (p.Val793Met) c.2446G>A (p.Val816Met) c.2431G>A (p.Val811Met) c.2410G>A (p.Val804Met) c.2404G>A (p.Val802Met) c.2359G>A (p.Val787Met) c.2350G>A (p.Val784Met) c.2326G>A (p.Val776Met) c.2320G>A (p.Val774Met) c.2293G>A (p.Val765Met) c.2287G>A (p.Val763Met) c.2281G>A (p.Val761Met) c.2230G>A (p.Val744Met) c.2149G>A (p.Val717Met) c.2308-302G>A (n.2308-302G>A) c.2071G>A (p.Val691Met) c.2208+1087G>A (n.2208+1087G>A) c.1291G>A (p.Val431Met) n.2567G>A | ClinVar dbSNP COSMIC |
17 | g.39724747G>C | CA16602503 | ERBB2 | c.2329G>C (p.Val777Leu) c.2239G>C (p.Val747Leu) c.1501G>C (p.Val501Leu) c.2284G>C (p.Val762Leu) c.*2119G>C (n.*2119G>C) c.435G>C n.3463G>C n.2653G>C c.2467G>C (p.Val823Leu) c.2422G>C (p.Val808Leu) c.2377G>C (p.Val793Leu) c.2446G>C (p.Val816Leu) c.2431G>C (p.Val811Leu) c.2410G>C (p.Val804Leu) c.2404G>C (p.Val802Leu) c.2359G>C (p.Val787Leu) c.2350G>C (p.Val784Leu) c.2326G>C (p.Val776Leu) c.2320G>C (p.Val774Leu) c.2293G>C (p.Val765Leu) c.2287G>C (p.Val763Leu) c.2281G>C (p.Val761Leu) c.2230G>C (p.Val744Leu) c.2149G>C (p.Val717Leu) c.2308-302G>C (n.2308-302G>C) c.2071G>C (p.Val691Leu) c.2208+1087G>C (n.2208+1087G>C) c.1291G>C (p.Val431Leu) n.2567G>C | ClinVar dbSNP COSMIC COSMIC |
17 | g.39724747G= | CA2259227986 | ERBB2 | c.2329G= (p.Val777=) c.2239G= (p.Val747=) c.1501G= (p.Val501=) c.2284G= (p.Val762=) c.*2119G= (n.*2119G=) c.435G= n.3463G= n.2653G= c.2467G= (p.Val823=) c.2422G= (p.Val808=) c.2377G= (p.Val793=) c.2446G= (p.Val816=) c.2431G= (p.Val811=) c.2410G= (p.Val804=) c.2404G= (p.Val802=) c.2359G= (p.Val787=) c.2350G= (p.Val784=) c.2326G= (p.Val776=) c.2320G= (p.Val774=) c.2293G= (p.Val765=) c.2287G= (p.Val763=) c.2281G= (p.Val761=) c.2230G= (p.Val744=) c.2149G= (p.Val717=) c.2308-302G= (n.2308-302G=) c.2071G= (p.Val691=) c.2208+1087G= (n.2208+1087G=) c.1291G= (p.Val431=) n.2567G= | |
17 | g.39724747G>T | CA135387 | ERBB2 | c.2329G>T (p.Val777Leu) c.2239G>T (p.Val747Leu) c.1501G>T (p.Val501Leu) c.2284G>T (p.Val762Leu) c.*2119G>T (n.*2119G>T) c.435G>T n.3463G>T n.2653G>T c.2467G>T (p.Val823Leu) c.2422G>T (p.Val808Leu) c.2377G>T (p.Val793Leu) c.2446G>T (p.Val816Leu) c.2431G>T (p.Val811Leu) c.2410G>T (p.Val804Leu) c.2404G>T (p.Val802Leu) c.2359G>T (p.Val787Leu) c.2350G>T (p.Val784Leu) c.2326G>T (p.Val776Leu) c.2320G>T (p.Val774Leu) c.2293G>T (p.Val765Leu) c.2287G>T (p.Val763Leu) c.2281G>T (p.Val761Leu) c.2230G>T (p.Val744Leu) c.2149G>T (p.Val717Leu) c.2308-302G>T (n.2308-302G>T) c.2071G>T (p.Val691Leu) c.2208+1087G>T (n.2208+1087G>T) c.1291G>T (p.Val431Leu) n.2567G>T | ClinVar dbSNP COSMIC COSMIC |
17 | g.39724748T>A | CA399302858 | ERBB2 | c.2330T>A (p.Val777Glu) c.2240T>A (p.Val747Glu) c.1502T>A (p.Val501Glu) c.2285T>A (p.Val762Glu) c.*2120T>A (n.*2120T>A) c.436T>A n.3464T>A n.2654T>A c.2468T>A (p.Val823Glu) c.2423T>A (p.Val808Glu) c.2378T>A (p.Val793Glu) c.2447T>A (p.Val816Glu) c.2432T>A (p.Val811Glu) c.2411T>A (p.Val804Glu) c.2405T>A (p.Val802Glu) c.2360T>A (p.Val787Glu) c.2351T>A (p.Val784Glu) c.2327T>A (p.Val776Glu) c.2321T>A (p.Val774Glu) c.2294T>A (p.Val765Glu) c.2288T>A (p.Val763Glu) c.2282T>A (p.Val761Glu) c.2231T>A (p.Val744Glu) c.2150T>A (p.Val717Glu) c.2308-301T>A (n.2308-301T>A) c.2072T>A (p.Val691Glu) c.2208+1088T>A (n.2208+1088T>A) c.1292T>A (p.Val431Glu) n.2568T>A | |
17 | g.39724748T>C | CA399302862 | ERBB2 | c.2330T>C (p.Val777Ala) c.2240T>C (p.Val747Ala) c.1502T>C (p.Val501Ala) c.2285T>C (p.Val762Ala) c.*2120T>C (n.*2120T>C) c.436T>C n.3464T>C n.2654T>C c.2468T>C (p.Val823Ala) c.2423T>C (p.Val808Ala) c.2378T>C (p.Val793Ala) c.2447T>C (p.Val816Ala) c.2432T>C (p.Val811Ala) c.2411T>C (p.Val804Ala) c.2405T>C (p.Val802Ala) c.2360T>C (p.Val787Ala) c.2351T>C (p.Val784Ala) c.2327T>C (p.Val776Ala) c.2321T>C (p.Val774Ala) c.2294T>C (p.Val765Ala) c.2288T>C (p.Val763Ala) c.2282T>C (p.Val761Ala) c.2231T>C (p.Val744Ala) c.2150T>C (p.Val717Ala) c.2308-301T>C (n.2308-301T>C) c.2072T>C (p.Val691Ala) c.2208+1088T>C (n.2208+1088T>C) c.1292T>C (p.Val431Ala) n.2568T>C | dbSNP |
17 | g.39724748T>G | CA399302860 | ERBB2 | c.2330T>G (p.Val777Gly) c.2240T>G (p.Val747Gly) c.1502T>G (p.Val501Gly) c.2285T>G (p.Val762Gly) c.*2120T>G (n.*2120T>G) c.436T>G n.3464T>G n.2654T>G c.2468T>G (p.Val823Gly) c.2423T>G (p.Val808Gly) c.2378T>G (p.Val793Gly) c.2447T>G (p.Val816Gly) c.2432T>G (p.Val811Gly) c.2411T>G (p.Val804Gly) c.2405T>G (p.Val802Gly) c.2360T>G (p.Val787Gly) c.2351T>G (p.Val784Gly) c.2327T>G (p.Val776Gly) c.2321T>G (p.Val774Gly) c.2294T>G (p.Val765Gly) c.2288T>G (p.Val763Gly) c.2282T>G (p.Val761Gly) c.2231T>G (p.Val744Gly) c.2150T>G (p.Val717Gly) c.2308-301T>G (n.2308-301T>G) c.2072T>G (p.Val691Gly) c.2208+1088T>G (n.2208+1088T>G) c.1292T>G (p.Val431Gly) n.2568T>G | |
17 | g.39724748T= | CA2259227987 | ERBB2 | c.2330T= (p.Val777=) c.2240T= (p.Val747=) c.1502T= (p.Val501=) c.2285T= (p.Val762=) c.*2120T= (n.*2120T=) c.436T= n.3464T= n.2654T= c.2468T= (p.Val823=) c.2423T= (p.Val808=) c.2378T= (p.Val793=) c.2447T= (p.Val816=) c.2432T= (p.Val811=) c.2411T= (p.Val804=) c.2405T= (p.Val802=) c.2360T= (p.Val787=) c.2351T= (p.Val784=) c.2327T= (p.Val776=) c.2321T= (p.Val774=) c.2294T= (p.Val765=) c.2288T= (p.Val763=) c.2282T= (p.Val761=) c.2231T= (p.Val744=) c.2150T= (p.Val717=) c.2308-301T= (n.2308-301T=) c.2072T= (p.Val691=) c.2208+1088T= (n.2208+1088T=) c.1292T= (p.Val431=) n.2568T= | |
17 | g.39724748_39724749delinsTG | CA2259227988 | ERBB2 | c.2330_2331delinsTG (p.Val777=) c.2240_2241delinsTG (p.Val747=) c.1502_1503delinsTG (p.Val501=) c.2285_2286delinsTG (p.Val762=) c.*2120_*2121delinsTG (n.*2120_*2121delinsTG) c.436_437delinsTG n.3464_3465delinsTG n.2654_2655delinsTG c.2468_2469delinsTG (p.Val823=) c.2423_2424delinsTG (p.Val808=) c.2378_2379delinsTG (p.Val793=) c.2447_2448delinsTG (p.Val816=) c.2432_2433delinsTG (p.Val811=) c.2411_2412delinsTG (p.Val804=) c.2405_2406delinsTG (p.Val802=) c.2360_2361delinsTG (p.Val787=) c.2351_2352delinsTG (p.Val784=) c.2327_2328delinsTG (p.Val776=) c.2321_2322delinsTG (p.Val774=) c.2294_2295delinsTG (p.Val765=) c.2288_2289delinsTG (p.Val763=) c.2282_2283delinsTG (p.Val761=) c.2231_2232delinsTG (p.Val744=) c.2150_2151delinsTG (p.Val717=) c.2308-301_2308-300delinsTG (n.2308-301_2308-300delinsTG) c.2072_2073delinsTG (p.Val691=) c.2208+1088_2208+1089delinsTG (n.2208+1088_2208+1089delinsTG) c.1292_1293delinsTG (p.Val431=) n.2568_2569delinsTG | |
17 | g.39724749G>A | CA499670843 | ERBB2 | c.2331G>A (p.Val777=) c.2241G>A (p.Val747=) c.1503G>A (p.Val501=) c.2286G>A (p.Val762=) c.*2121G>A (n.*2121G>A) c.437G>A n.3465G>A n.2655G>A c.2469G>A (p.Val823=) c.2424G>A (p.Val808=) c.2379G>A (p.Val793=) c.2448G>A (p.Val816=) c.2433G>A (p.Val811=) c.2412G>A (p.Val804=) c.2406G>A (p.Val802=) c.2361G>A (p.Val787=) c.2352G>A (p.Val784=) c.2328G>A (p.Val776=) c.2322G>A (p.Val774=) c.2295G>A (p.Val765=) c.2289G>A (p.Val763=) c.2283G>A (p.Val761=) c.2232G>A (p.Val744=) c.2151G>A (p.Val717=) c.2308-300G>A (n.2308-300G>A) c.2073G>A (p.Val691=) c.2208+1089G>A (n.2208+1089G>A) c.1293G>A (p.Val431=) n.2569G>A | |
17 | g.39724749G>C | CA499670841 | ERBB2 | c.2331G>C (p.Val777=) c.2241G>C (p.Val747=) c.1503G>C (p.Val501=) c.2286G>C (p.Val762=) c.*2121G>C (n.*2121G>C) c.437G>C n.3465G>C n.2655G>C c.2469G>C (p.Val823=) c.2424G>C (p.Val808=) c.2379G>C (p.Val793=) c.2448G>C (p.Val816=) c.2433G>C (p.Val811=) c.2412G>C (p.Val804=) c.2406G>C (p.Val802=) c.2361G>C (p.Val787=) c.2352G>C (p.Val784=) c.2328G>C (p.Val776=) c.2322G>C (p.Val774=) c.2295G>C (p.Val765=) c.2289G>C (p.Val763=) c.2283G>C (p.Val761=) c.2232G>C (p.Val744=) c.2151G>C (p.Val717=) c.2308-300G>C (n.2308-300G>C) c.2073G>C (p.Val691=) c.2208+1089G>C (n.2208+1089G>C) c.1293G>C (p.Val431=) n.2569G>C | |
17 | g.39724749G= | CA2259227989 | ERBB2 | c.2331G= (p.Val777=) c.2241G= (p.Val747=) c.1503G= (p.Val501=) c.2286G= (p.Val762=) c.*2121G= (n.*2121G=) c.437G= n.3465G= n.2655G= c.2469G= (p.Val823=) c.2424G= (p.Val808=) c.2379G= (p.Val793=) c.2448G= (p.Val816=) c.2433G= (p.Val811=) c.2412G= (p.Val804=) c.2406G= (p.Val802=) c.2361G= (p.Val787=) c.2352G= (p.Val784=) c.2328G= (p.Val776=) c.2322G= (p.Val774=) c.2295G= (p.Val765=) c.2289G= (p.Val763=) c.2283G= (p.Val761=) c.2232G= (p.Val744=) c.2151G= (p.Val717=) c.2308-300G= (n.2308-300G=) c.2073G= (p.Val691=) c.2208+1089G= (n.2208+1089G=) c.1293G= (p.Val431=) n.2569G= | |
17 | g.39724749G>T | CA499670842 | ERBB2 | c.2331G>T (p.Val777=) c.2241G>T (p.Val747=) c.1503G>T (p.Val501=) c.2286G>T (p.Val762=) c.*2121G>T (n.*2121G>T) c.437G>T n.3465G>T n.2655G>T c.2469G>T (p.Val823=) c.2424G>T (p.Val808=) c.2379G>T (p.Val793=) c.2448G>T (p.Val816=) c.2433G>T (p.Val811=) c.2412G>T (p.Val804=) c.2406G>T (p.Val802=) c.2361G>T (p.Val787=) c.2352G>T (p.Val784=) c.2328G>T (p.Val776=) c.2322G>T (p.Val774=) c.2295G>T (p.Val765=) c.2289G>T (p.Val763=) c.2283G>T (p.Val761=) c.2232G>T (p.Val744=) c.2151G>T (p.Val717=) c.2308-300G>T (n.2308-300G>T) c.2073G>T (p.Val691=) c.2208+1089G>T (n.2208+1089G>T) c.1293G>T (p.Val431=) n.2569G>T | |
17 | g.39724749_39724750insTGTGGG | CA645578285 | ERBB2 | c.2331_2332insTGTGGG (p.Val777_Gly778insCysGly) c.2241_2242insTGTGGG (p.Val747_Gly748insCysGly) c.1503_1504insTGTGGG (p.Val501_Gly502insCysGly) c.2286_2287insTGTGGG (p.Val762_Gly763insCysGly) c.*2121_*2122insTGTGGG (n.*2121_*2122insTGTGGG) c.437_438insTGTGGG n.3465_3466insTGTGGG n.2655_2656insTGTGGG c.2469_2470insTGTGGG (p.Val823_Gly824insCysGly) c.2424_2425insTGTGGG (p.Val808_Gly809insCysGly) c.2379_2380insTGTGGG (p.Val793_Gly794insCysGly) c.2448_2449insTGTGGG (p.Val816_Gly817insCysGly) c.2433_2434insTGTGGG (p.Val811_Gly812insCysGly) c.2412_2413insTGTGGG (p.Val804_Gly805insCysGly) c.2406_2407insTGTGGG (p.Val802_Gly803insCysGly) c.2361_2362insTGTGGG (p.Val787_Gly788insCysGly) c.2352_2353insTGTGGG (p.Val784_Gly785insCysGly) c.2328_2329insTGTGGG (p.Val776_Gly777insCysGly) c.2322_2323insTGTGGG (p.Val774_Gly775insCysGly) c.2295_2296insTGTGGG (p.Val765_Gly766insCysGly) c.2289_2290insTGTGGG (p.Val763_Gly764insCysGly) c.2283_2284insTGTGGG (p.Val761_Gly762insCysGly) c.2232_2233insTGTGGG (p.Val744_Gly745insCysGly) c.2151_2152insTGTGGG (p.Val717_Gly718insCysGly) c.2308-300_2308-299insTGTGGG (n.2308-300_2308-299insTGTGGG) c.2073_2074insTGTGGG (p.Val691_Gly692insCysGly) c.2208+1089_2208+1090insTGTGGG (n.2208+1089_2208+1090insTGTGGG) c.1293_1294insTGTGGG (p.Val431_Gly432insCysGly) n.2569_2570insTGTGGG | dbSNP COSMIC |
17 | g.39724749_39724751dup | CA645578284 | ERBB2 | c.2331_2333dup (p.Gly778_Ser779insGly) c.2241_2243dup (p.Gly748_Ser749insGly) c.1503_1505dup (p.Gly502_Ser503insGly) c.2286_2288dup (p.Gly763_Ser764insGly) c.*2121_*2123dup (n.*2121_*2123dup) c.437_439dup n.3465_3467dup n.2655_2657dup c.2469_2471dup (p.Gly824_Ser825insGly) c.2424_2426dup (p.Gly809_Ser810insGly) c.2379_2381dup (p.Gly794_Ser795insGly) c.2448_2450dup (p.Gly817_Ser818insGly) c.2433_2435dup (p.Gly812_Ser813insGly) c.2412_2414dup (p.Gly805_Ser806insGly) c.2406_2408dup (p.Gly803_Ser804insGly) c.2361_2363dup (p.Gly788_Ser789insGly) c.2352_2354dup (p.Gly785_Ser786insGly) c.2328_2330dup (p.Gly777_Ser778insGly) c.2322_2324dup (p.Gly775_Ser776insGly) c.2295_2297dup (p.Gly766_Ser767insGly) c.2289_2291dup (p.Gly764_Ser765insGly) c.2283_2285dup (p.Gly762_Ser763insGly) c.2232_2234dup (p.Gly745_Ser746insGly) c.2151_2153dup (p.Gly718_Ser719insGly) c.2308-300_2308-298dup (n.2308-300_2308-298dup) c.2073_2075dup (p.Gly692_Ser693insGly) c.2208+1089_2208+1091dup (n.2208+1089_2208+1091dup) c.1293_1295dup (p.Gly432_Ser433insGly) n.2569_2571dup | dbSNP COSMIC |
17 | g.39724751del | CA8534282 | ERBB2 | c.2333del (p.Gly778AlafsTer13) c.2243del (p.Gly748AlafsTer13) c.1505del (p.Gly502AlafsTer13) c.2288del (p.Gly763AlafsTer13) c.*2123del (n.*2123del) c.439del n.3467del n.2657del c.2471del (p.Gly824AlafsTer13) c.2426del (p.Gly809AlafsTer13) c.2381del (p.Gly794AlafsTer13) c.2450del (p.Gly817AlafsTer13) c.2435del (p.Gly812AlafsTer13) c.2414del (p.Gly805AlafsTer13) c.2408del (p.Gly803AlafsTer13) c.2363del (p.Gly788AlafsTer13) c.2354del (p.Gly785AlafsTer13) c.2330del (p.Gly777AlafsTer13) c.2324del (p.Gly775AlafsTer13) c.2297del (p.Gly766AlafsTer13) c.2291del (p.Gly764AlafsTer13) c.2285del (p.Gly762AlafsTer13) c.2234del (p.Gly745AlafsTer13) c.2153del (p.Gly718AlafsTer13) c.2308-298del (n.2308-298del) c.2075del (p.Gly692AlafsTer13) c.2208+1091del (n.2208+1091del) c.1295del (p.Gly432AlafsTer13) n.2571del | dbSNP ExAC gnomAD v2 |
17 | g.39724749_39724757dup | CA135394 | ERBB2 | c.2331_2339dup (p.Pro780_Tyr781insGlySerPro) c.2241_2249dup (p.Pro750_Tyr751insGlySerPro) c.1503_1511dup (p.Pro504_Tyr505insGlySerPro) c.2286_2294dup (p.Pro765_Tyr766insGlySerPro) c.*2121_*2129dup (n.*2121_*2129dup) c.437_445dup n.3465_3473dup n.2655_2663dup c.2469_2477dup (p.Pro826_Tyr827insGlySerPro) c.2424_2432dup (p.Pro811_Tyr812insGlySerPro) c.2379_2387dup (p.Pro796_Tyr797insGlySerPro) c.2448_2456dup (p.Pro819_Tyr820insGlySerPro) c.2433_2441dup (p.Pro814_Tyr815insGlySerPro) c.2412_2420dup (p.Pro807_Tyr808insGlySerPro) c.2406_2414dup (p.Pro805_Tyr806insGlySerPro) c.2361_2369dup (p.Pro790_Tyr791insGlySerPro) c.2352_2360dup (p.Pro787_Tyr788insGlySerPro) c.2328_2336dup (p.Pro779_Tyr780insGlySerPro) c.2322_2330dup (p.Pro777_Tyr778insGlySerPro) c.2295_2303dup (p.Pro768_Tyr769insGlySerPro) c.2289_2297dup (p.Pro766_Tyr767insGlySerPro) c.2283_2291dup (p.Pro764_Tyr765insGlySerPro) c.2232_2240dup (p.Pro747_Tyr748insGlySerPro) c.2151_2159dup (p.Pro720_Tyr721insGlySerPro) c.2308-300_2308-292dup (n.2308-300_2308-292dup) c.2073_2081dup (p.Pro694_Tyr695insGlySerPro) c.2208+1089_2208+1097dup (n.2208+1089_2208+1097dup) c.1293_1301dup (p.Pro434_Tyr435insGlySerPro) n.2569_2577dup | ClinVar dbSNP COSMIC |
17 | g.39724750G>A | CA399302864 | ERBB2 | c.2332G>A (p.Gly778Ser) c.2242G>A (p.Gly748Ser) c.1504G>A (p.Gly502Ser) c.2287G>A (p.Gly763Ser) c.*2122G>A (n.*2122G>A) c.438G>A n.3466G>A n.2656G>A c.2470G>A (p.Gly824Ser) c.2425G>A (p.Gly809Ser) c.2380G>A (p.Gly794Ser) c.2449G>A (p.Gly817Ser) c.2434G>A (p.Gly812Ser) c.2413G>A (p.Gly805Ser) c.2407G>A (p.Gly803Ser) c.2362G>A (p.Gly788Ser) c.2353G>A (p.Gly785Ser) c.2329G>A (p.Gly777Ser) c.2323G>A (p.Gly775Ser) c.2296G>A (p.Gly766Ser) c.2290G>A (p.Gly764Ser) c.2284G>A (p.Gly762Ser) c.2233G>A (p.Gly745Ser) c.2152G>A (p.Gly718Ser) c.2308-299G>A (n.2308-299G>A) c.2074G>A (p.Gly692Ser) c.2208+1090G>A (n.2208+1090G>A) c.1294G>A (p.Gly432Ser) n.2570G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724750G>C | CA399302866 | ERBB2 | c.2332G>C (p.Gly778Arg) c.2242G>C (p.Gly748Arg) c.1504G>C (p.Gly502Arg) c.2287G>C (p.Gly763Arg) c.*2122G>C (n.*2122G>C) c.438G>C n.3466G>C n.2656G>C c.2470G>C (p.Gly824Arg) c.2425G>C (p.Gly809Arg) c.2380G>C (p.Gly794Arg) c.2449G>C (p.Gly817Arg) c.2434G>C (p.Gly812Arg) c.2413G>C (p.Gly805Arg) c.2407G>C (p.Gly803Arg) c.2362G>C (p.Gly788Arg) c.2353G>C (p.Gly785Arg) c.2329G>C (p.Gly777Arg) c.2323G>C (p.Gly775Arg) c.2296G>C (p.Gly766Arg) c.2290G>C (p.Gly764Arg) c.2284G>C (p.Gly762Arg) c.2233G>C (p.Gly745Arg) c.2152G>C (p.Gly718Arg) c.2308-299G>C (n.2308-299G>C) c.2074G>C (p.Gly692Arg) c.2208+1090G>C (n.2208+1090G>C) c.1294G>C (p.Gly432Arg) n.2570G>C | dbSNP |
17 | g.39724750G= | CA2259227990 | ERBB2 | c.2332G= (p.Gly778=) c.2242G= (p.Gly748=) c.1504G= (p.Gly502=) c.2287G= (p.Gly763=) c.*2122G= (n.*2122G=) c.438G= n.3466G= n.2656G= c.2470G= (p.Gly824=) c.2425G= (p.Gly809=) c.2380G= (p.Gly794=) c.2449G= (p.Gly817=) c.2434G= (p.Gly812=) c.2413G= (p.Gly805=) c.2407G= (p.Gly803=) c.2362G= (p.Gly788=) c.2353G= (p.Gly785=) c.2329G= (p.Gly777=) c.2323G= (p.Gly775=) c.2296G= (p.Gly766=) c.2290G= (p.Gly764=) c.2284G= (p.Gly762=) c.2233G= (p.Gly745=) c.2152G= (p.Gly718=) c.2308-299G= (n.2308-299G=) c.2074G= (p.Gly692=) c.2208+1090G= (n.2208+1090G=) c.1294G= (p.Gly432=) n.2570G= | |
17 | g.39724750G>T | CA399302867 | ERBB2 | c.2332G>T (p.Gly778Cys) c.2242G>T (p.Gly748Cys) c.1504G>T (p.Gly502Cys) c.2287G>T (p.Gly763Cys) c.*2122G>T (n.*2122G>T) c.438G>T n.3466G>T n.2656G>T c.2470G>T (p.Gly824Cys) c.2425G>T (p.Gly809Cys) c.2380G>T (p.Gly794Cys) c.2449G>T (p.Gly817Cys) c.2434G>T (p.Gly812Cys) c.2413G>T (p.Gly805Cys) c.2407G>T (p.Gly803Cys) c.2362G>T (p.Gly788Cys) c.2353G>T (p.Gly785Cys) c.2329G>T (p.Gly777Cys) c.2323G>T (p.Gly775Cys) c.2296G>T (p.Gly766Cys) c.2290G>T (p.Gly764Cys) c.2284G>T (p.Gly762Cys) c.2233G>T (p.Gly745Cys) c.2152G>T (p.Gly718Cys) c.2308-299G>T (n.2308-299G>T) c.2074G>T (p.Gly692Cys) c.2208+1090G>T (n.2208+1090G>T) c.1294G>T (p.Gly432Cys) n.2570G>T | dbSNP |
17 | g.39724753_39724754insGCCCAGGCT | CA2825000813 | ERBB2 | c.2335_2336insGCCCAGGCT (p.Gly778_Ser779insCysProGly) c.2245_2246insGCCCAGGCT (p.Gly748_Ser749insCysProGly) c.1507_1508insGCCCAGGCT (p.Gly502_Ser503insCysProGly) c.2290_2291insGCCCAGGCT (p.Gly763_Ser764insCysProGly) c.*2125_*2126insGCCCAGGCT (n.*2125_*2126insGCCCAGGCT) c.441_442insGCCCAGGCT n.3469_3470insGCCCAGGCT n.2659_2660insGCCCAGGCT c.2473_2474insGCCCAGGCT (p.Gly824_Ser825insCysProGly) c.2428_2429insGCCCAGGCT (p.Gly809_Ser810insCysProGly) c.2383_2384insGCCCAGGCT (p.Gly794_Ser795insCysProGly) c.2452_2453insGCCCAGGCT (p.Gly817_Ser818insCysProGly) c.2437_2438insGCCCAGGCT (p.Gly812_Ser813insCysProGly) c.2416_2417insGCCCAGGCT (p.Gly805_Ser806insCysProGly) c.2410_2411insGCCCAGGCT (p.Gly803_Ser804insCysProGly) c.2365_2366insGCCCAGGCT (p.Gly788_Ser789insCysProGly) c.2356_2357insGCCCAGGCT (p.Gly785_Ser786insCysProGly) c.2332_2333insGCCCAGGCT (p.Gly777_Ser778insCysProGly) c.2326_2327insGCCCAGGCT (p.Gly775_Ser776insCysProGly) c.2299_2300insGCCCAGGCT (p.Gly766_Ser767insCysProGly) c.2293_2294insGCCCAGGCT (p.Gly764_Ser765insCysProGly) c.2287_2288insGCCCAGGCT (p.Gly762_Ser763insCysProGly) c.2236_2237insGCCCAGGCT (p.Gly745_Ser746insCysProGly) c.2155_2156insGCCCAGGCT (p.Gly718_Ser719insCysProGly) c.2308-296_2308-295insGCCCAGGCT (n.2308-296_2308-295insGCCCAGGCT) c.2077_2078insGCCCAGGCT (p.Gly692_Ser693insCysProGly) c.2208+1093_2208+1094insGCCCAGGCT (n.2208+1093_2208+1094insGCCCAGGCT) c.1297_1298insGCCCAGGCT (p.Gly432_Ser433insCysProGly) n.2573_2574insGCCCAGGCT | |
17 | g.39724757_39724758insCGGCTCCCC | CA2825000798 | ERBB2 | c.2339_2340insCGGCTCCCC (p.Pro780_Tyr781insGlySerPro) c.2249_2250insCGGCTCCCC (p.Pro750_Tyr751insGlySerPro) c.1511_1512insCGGCTCCCC (p.Pro504_Tyr505insGlySerPro) c.2294_2295insCGGCTCCCC (p.Pro765_Tyr766insGlySerPro) c.*2129_*2130insCGGCTCCCC (n.*2129_*2130insCGGCTCCCC) c.445_446insCGGCTCCCC n.3473_3474insCGGCTCCCC n.2663_2664insCGGCTCCCC c.2477_2478insCGGCTCCCC (p.Pro826_Tyr827insGlySerPro) c.2432_2433insCGGCTCCCC (p.Pro811_Tyr812insGlySerPro) c.2387_2388insCGGCTCCCC (p.Pro796_Tyr797insGlySerPro) c.2456_2457insCGGCTCCCC (p.Pro819_Tyr820insGlySerPro) c.2441_2442insCGGCTCCCC (p.Pro814_Tyr815insGlySerPro) c.2420_2421insCGGCTCCCC (p.Pro807_Tyr808insGlySerPro) c.2414_2415insCGGCTCCCC (p.Pro805_Tyr806insGlySerPro) c.2369_2370insCGGCTCCCC (p.Pro790_Tyr791insGlySerPro) c.2360_2361insCGGCTCCCC (p.Pro787_Tyr788insGlySerPro) c.2336_2337insCGGCTCCCC (p.Pro779_Tyr780insGlySerPro) c.2330_2331insCGGCTCCCC (p.Pro777_Tyr778insGlySerPro) c.2303_2304insCGGCTCCCC (p.Pro768_Tyr769insGlySerPro) c.2297_2298insCGGCTCCCC (p.Pro766_Tyr767insGlySerPro) c.2291_2292insCGGCTCCCC (p.Pro764_Tyr765insGlySerPro) c.2240_2241insCGGCTCCCC (p.Pro747_Tyr748insGlySerPro) c.2159_2160insCGGCTCCCC (p.Pro720_Tyr721insGlySerPro) c.2308-292_2308-291insCGGCTCCCC (n.2308-292_2308-291insCGGCTCCCC) c.2081_2082insCGGCTCCCC (p.Pro694_Tyr695insGlySerPro) c.2208+1097_2208+1098insCGGCTCCCC (n.2208+1097_2208+1098insCGGCTCCCC) c.1301_1302insCGGCTCCCC (p.Pro434_Tyr435insGlySerPro) n.2577_2578insCGGCTCCCC | |
17 | g.39724757_39724758insTGGCTCCCC | CA645578286 | ERBB2 | c.2339_2340insTGGCTCCCC (p.Pro780_Tyr781insGlySerPro) c.2249_2250insTGGCTCCCC (p.Pro750_Tyr751insGlySerPro) c.1511_1512insTGGCTCCCC (p.Pro504_Tyr505insGlySerPro) c.2294_2295insTGGCTCCCC (p.Pro765_Tyr766insGlySerPro) c.*2129_*2130insTGGCTCCCC (n.*2129_*2130insTGGCTCCCC) c.445_446insTGGCTCCCC n.3473_3474insTGGCTCCCC n.2663_2664insTGGCTCCCC c.2477_2478insTGGCTCCCC (p.Pro826_Tyr827insGlySerPro) c.2432_2433insTGGCTCCCC (p.Pro811_Tyr812insGlySerPro) c.2387_2388insTGGCTCCCC (p.Pro796_Tyr797insGlySerPro) c.2456_2457insTGGCTCCCC (p.Pro819_Tyr820insGlySerPro) c.2441_2442insTGGCTCCCC (p.Pro814_Tyr815insGlySerPro) c.2420_2421insTGGCTCCCC (p.Pro807_Tyr808insGlySerPro) c.2414_2415insTGGCTCCCC (p.Pro805_Tyr806insGlySerPro) c.2369_2370insTGGCTCCCC (p.Pro790_Tyr791insGlySerPro) c.2360_2361insTGGCTCCCC (p.Pro787_Tyr788insGlySerPro) c.2336_2337insTGGCTCCCC (p.Pro779_Tyr780insGlySerPro) c.2330_2331insTGGCTCCCC (p.Pro777_Tyr778insGlySerPro) c.2303_2304insTGGCTCCCC (p.Pro768_Tyr769insGlySerPro) c.2297_2298insTGGCTCCCC (p.Pro766_Tyr767insGlySerPro) c.2291_2292insTGGCTCCCC (p.Pro764_Tyr765insGlySerPro) c.2240_2241insTGGCTCCCC (p.Pro747_Tyr748insGlySerPro) c.2159_2160insTGGCTCCCC (p.Pro720_Tyr721insGlySerPro) c.2308-292_2308-291insTGGCTCCCC (n.2308-292_2308-291insTGGCTCCCC) c.2081_2082insTGGCTCCCC (p.Pro694_Tyr695insGlySerPro) c.2208+1097_2208+1098insTGGCTCCCC (n.2208+1097_2208+1098insTGGCTCCCC) c.1301_1302insTGGCTCCCC (p.Pro434_Tyr435insGlySerPro) n.2577_2578insTGGCTCCCC | dbSNP COSMIC |
17 | g.39724750_39724758dup | CA135401 | ERBB2 | c.2332_2340dup (p.Pro780_Tyr781insGlySerPro) c.2242_2250dup (p.Pro750_Tyr751insGlySerPro) c.1504_1512dup (p.Pro504_Tyr505insGlySerPro) c.2287_2295dup (p.Pro765_Tyr766insGlySerPro) c.*2122_*2130dup (n.*2122_*2130dup) c.438_446dup n.3466_3474dup n.2656_2664dup c.2470_2478dup (p.Pro826_Tyr827insGlySerPro) c.2425_2433dup (p.Pro811_Tyr812insGlySerPro) c.2380_2388dup (p.Pro796_Tyr797insGlySerPro) c.2449_2457dup (p.Pro819_Tyr820insGlySerPro) c.2434_2442dup (p.Pro814_Tyr815insGlySerPro) c.2413_2421dup (p.Pro807_Tyr808insGlySerPro) c.2407_2415dup (p.Pro805_Tyr806insGlySerPro) c.2362_2370dup (p.Pro790_Tyr791insGlySerPro) c.2353_2361dup (p.Pro787_Tyr788insGlySerPro) c.2329_2337dup (p.Pro779_Tyr780insGlySerPro) c.2323_2331dup (p.Pro777_Tyr778insGlySerPro) c.2296_2304dup (p.Pro768_Tyr769insGlySerPro) c.2290_2298dup (p.Pro766_Tyr767insGlySerPro) c.2284_2292dup (p.Pro764_Tyr765insGlySerPro) c.2233_2241dup (p.Pro747_Tyr748insGlySerPro) c.2152_2160dup (p.Pro720_Tyr721insGlySerPro) c.2308-299_2308-291dup (n.2308-299_2308-291dup) c.2074_2082dup (p.Pro694_Tyr695insGlySerPro) c.2208+1090_2208+1098dup (n.2208+1090_2208+1098dup) c.1294_1302dup (p.Pro434_Tyr435insGlySerPro) n.2570_2578dup | ClinVar dbSNP COSMIC COSMIC COSMIC |
17 | g.39724751G>A | CA399302871 | ERBB2 | c.2333G>A (p.Gly778Asp) c.2243G>A (p.Gly748Asp) c.1505G>A (p.Gly502Asp) c.2288G>A (p.Gly763Asp) c.*2123G>A (n.*2123G>A) c.439G>A n.3467G>A n.2657G>A c.2471G>A (p.Gly824Asp) c.2426G>A (p.Gly809Asp) c.2381G>A (p.Gly794Asp) c.2450G>A (p.Gly817Asp) c.2435G>A (p.Gly812Asp) c.2414G>A (p.Gly805Asp) c.2408G>A (p.Gly803Asp) c.2363G>A (p.Gly788Asp) c.2354G>A (p.Gly785Asp) c.2330G>A (p.Gly777Asp) c.2324G>A (p.Gly775Asp) c.2297G>A (p.Gly766Asp) c.2291G>A (p.Gly764Asp) c.2285G>A (p.Gly762Asp) c.2234G>A (p.Gly745Asp) c.2153G>A (p.Gly718Asp) c.2308-298G>A (n.2308-298G>A) c.2075G>A (p.Gly692Asp) c.2208+1091G>A (n.2208+1091G>A) c.1295G>A (p.Gly432Asp) n.2571G>A | dbSNP |
17 | g.39724751G>C | CA399302872 | ERBB2 | c.2333G>C (p.Gly778Ala) c.2243G>C (p.Gly748Ala) c.1505G>C (p.Gly502Ala) c.2288G>C (p.Gly763Ala) c.*2123G>C (n.*2123G>C) c.439G>C n.3467G>C n.2657G>C c.2471G>C (p.Gly824Ala) c.2426G>C (p.Gly809Ala) c.2381G>C (p.Gly794Ala) c.2450G>C (p.Gly817Ala) c.2435G>C (p.Gly812Ala) c.2414G>C (p.Gly805Ala) c.2408G>C (p.Gly803Ala) c.2363G>C (p.Gly788Ala) c.2354G>C (p.Gly785Ala) c.2330G>C (p.Gly777Ala) c.2324G>C (p.Gly775Ala) c.2297G>C (p.Gly766Ala) c.2291G>C (p.Gly764Ala) c.2285G>C (p.Gly762Ala) c.2234G>C (p.Gly745Ala) c.2153G>C (p.Gly718Ala) c.2308-298G>C (n.2308-298G>C) c.2075G>C (p.Gly692Ala) c.2208+1091G>C (n.2208+1091G>C) c.1295G>C (p.Gly432Ala) n.2571G>C | dbSNP |
17 | g.39724751G>T | CA399302874 | ERBB2 | c.2333G>T (p.Gly778Val) c.2243G>T (p.Gly748Val) c.1505G>T (p.Gly502Val) c.2288G>T (p.Gly763Val) c.*2123G>T (n.*2123G>T) c.439G>T n.3467G>T n.2657G>T c.2471G>T (p.Gly824Val) c.2426G>T (p.Gly809Val) c.2381G>T (p.Gly794Val) c.2450G>T (p.Gly817Val) c.2435G>T (p.Gly812Val) c.2414G>T (p.Gly805Val) c.2408G>T (p.Gly803Val) c.2363G>T (p.Gly788Val) c.2354G>T (p.Gly785Val) c.2330G>T (p.Gly777Val) c.2324G>T (p.Gly775Val) c.2297G>T (p.Gly766Val) c.2291G>T (p.Gly764Val) c.2285G>T (p.Gly762Val) c.2234G>T (p.Gly745Val) c.2153G>T (p.Gly718Val) c.2308-298G>T (n.2308-298G>T) c.2075G>T (p.Gly692Val) c.2208+1091G>T (n.2208+1091G>T) c.1295G>T (p.Gly432Val) n.2571G>T | dbSNP |
17 | g.39724751_39724752insGCTCCCCAG | CA16602467 | ERBB2 | c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer) c.2243_2244insGCTCCCCAG (p.Gly748_Ser749insLeuProSer) c.1505_1506insGCTCCCCAG (p.Gly502_Ser503insLeuProSer) c.2288_2289insGCTCCCCAG (p.Gly763_Ser764insLeuProSer) c.*2123_*2124insGCTCCCCAG (n.*2123_*2124insGCTCCCCAG) c.439_440insGCTCCCCAG n.3467_3468insGCTCCCCAG n.2657_2658insGCTCCCCAG c.2471_2472insGCTCCCCAG (p.Gly824_Ser825insLeuProSer) c.2426_2427insGCTCCCCAG (p.Gly809_Ser810insLeuProSer) c.2381_2382insGCTCCCCAG (p.Gly794_Ser795insLeuProSer) c.2450_2451insGCTCCCCAG (p.Gly817_Ser818insLeuProSer) c.2435_2436insGCTCCCCAG (p.Gly812_Ser813insLeuProSer) c.2414_2415insGCTCCCCAG (p.Gly805_Ser806insLeuProSer) c.2408_2409insGCTCCCCAG (p.Gly803_Ser804insLeuProSer) c.2363_2364insGCTCCCCAG (p.Gly788_Ser789insLeuProSer) c.2354_2355insGCTCCCCAG (p.Gly785_Ser786insLeuProSer) c.2330_2331insGCTCCCCAG (p.Gly777_Ser778insLeuProSer) c.2324_2325insGCTCCCCAG (p.Gly775_Ser776insLeuProSer) c.2297_2298insGCTCCCCAG (p.Gly766_Ser767insLeuProSer) c.2291_2292insGCTCCCCAG (p.Gly764_Ser765insLeuProSer) c.2285_2286insGCTCCCCAG (p.Gly762_Ser763insLeuProSer) c.2234_2235insGCTCCCCAG (p.Gly745_Ser746insLeuProSer) c.2153_2154insGCTCCCCAG (p.Gly718_Ser719insLeuProSer) c.2308-298_2308-297insGCTCCCCAG (n.2308-298_2308-297insGCTCCCCAG) c.2075_2076insGCTCCCCAG (p.Gly692_Ser693insLeuProSer) c.2208+1091_2208+1092insGCTCCCCAG (n.2208+1091_2208+1092insGCTCCCCAG) c.1295_1296insGCTCCCCAG (p.Gly432_Ser433insLeuProSer) n.2571_2572insGCTCCCCAG | ClinVar dbSNP COSMIC COSMIC |
17 | g.39724752C>A | CA499670846 | ERBB2 | c.2334C>A (p.Gly778=) c.2244C>A (p.Gly748=) c.1506C>A (p.Gly502=) c.2289C>A (p.Gly763=) c.*2124C>A (n.*2124C>A) c.440C>A n.3468C>A n.2658C>A c.2472C>A (p.Gly824=) c.2427C>A (p.Gly809=) c.2382C>A (p.Gly794=) c.2451C>A (p.Gly817=) c.2436C>A (p.Gly812=) c.2415C>A (p.Gly805=) c.2409C>A (p.Gly803=) c.2364C>A (p.Gly788=) c.2355C>A (p.Gly785=) c.2331C>A (p.Gly777=) c.2325C>A (p.Gly775=) c.2298C>A (p.Gly766=) c.2292C>A (p.Gly764=) c.2286C>A (p.Gly762=) c.2235C>A (p.Gly745=) c.2154C>A (p.Gly718=) c.2308-297C>A (n.2308-297C>A) c.2076C>A (p.Gly692=) c.2208+1092C>A (n.2208+1092C>A) c.1296C>A (p.Gly432=) n.2572C>A | dbSNP |
17 | g.39724752C= | CA2259227991 | ERBB2 | c.2334C= (p.Gly778=) c.2244C= (p.Gly748=) c.1506C= (p.Gly502=) c.2289C= (p.Gly763=) c.*2124C= (n.*2124C=) c.440C= n.3468C= n.2658C= c.2472C= (p.Gly824=) c.2427C= (p.Gly809=) c.2382C= (p.Gly794=) c.2451C= (p.Gly817=) c.2436C= (p.Gly812=) c.2415C= (p.Gly805=) c.2409C= (p.Gly803=) c.2364C= (p.Gly788=) c.2355C= (p.Gly785=) c.2331C= (p.Gly777=) c.2325C= (p.Gly775=) c.2298C= (p.Gly766=) c.2292C= (p.Gly764=) c.2286C= (p.Gly762=) c.2235C= (p.Gly745=) c.2154C= (p.Gly718=) c.2308-297C= (n.2308-297C=) c.2076C= (p.Gly692=) c.2208+1092C= (n.2208+1092C=) c.1296C= (p.Gly432=) n.2572C= | |
17 | g.39724752C>G | CA499670844 | ERBB2 | c.2334C>G (p.Gly778=) c.2244C>G (p.Gly748=) c.1506C>G (p.Gly502=) c.2289C>G (p.Gly763=) c.*2124C>G (n.*2124C>G) c.440C>G n.3468C>G n.2658C>G c.2472C>G (p.Gly824=) c.2427C>G (p.Gly809=) c.2382C>G (p.Gly794=) c.2451C>G (p.Gly817=) c.2436C>G (p.Gly812=) c.2415C>G (p.Gly805=) c.2409C>G (p.Gly803=) c.2364C>G (p.Gly788=) c.2355C>G (p.Gly785=) c.2331C>G (p.Gly777=) c.2325C>G (p.Gly775=) c.2298C>G (p.Gly766=) c.2292C>G (p.Gly764=) c.2286C>G (p.Gly762=) c.2235C>G (p.Gly745=) c.2154C>G (p.Gly718=) c.2308-297C>G (n.2308-297C>G) c.2076C>G (p.Gly692=) c.2208+1092C>G (n.2208+1092C>G) c.1296C>G (p.Gly432=) n.2572C>G | dbSNP gnomAD v4 |
17 | g.39724752C>T | CA499670845 | ERBB2 | c.2334C>T (p.Gly778=) c.2244C>T (p.Gly748=) c.1506C>T (p.Gly502=) c.2289C>T (p.Gly763=) c.*2124C>T (n.*2124C>T) c.440C>T n.3468C>T n.2658C>T c.2472C>T (p.Gly824=) c.2427C>T (p.Gly809=) c.2382C>T (p.Gly794=) c.2451C>T (p.Gly817=) c.2436C>T (p.Gly812=) c.2415C>T (p.Gly805=) c.2409C>T (p.Gly803=) c.2364C>T (p.Gly788=) c.2355C>T (p.Gly785=) c.2331C>T (p.Gly777=) c.2325C>T (p.Gly775=) c.2298C>T (p.Gly766=) c.2292C>T (p.Gly764=) c.2286C>T (p.Gly762=) c.2235C>T (p.Gly745=) c.2154C>T (p.Gly718=) c.2308-297C>T (n.2308-297C>T) c.2076C>T (p.Gly692=) c.2208+1092C>T (n.2208+1092C>T) c.1296C>T (p.Gly432=) n.2572C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724752_39724753insCTCCCTTCT | CA2825000809 | ERBB2 | c.2334_2335insCTCCCTTCT (p.Gly778_Ser779insLeuProSer) c.2244_2245insCTCCCTTCT (p.Gly748_Ser749insLeuProSer) c.1506_1507insCTCCCTTCT (p.Gly502_Ser503insLeuProSer) c.2289_2290insCTCCCTTCT (p.Gly763_Ser764insLeuProSer) c.*2124_*2125insCTCCCTTCT (n.*2124_*2125insCTCCCTTCT) c.440_441insCTCCCTTCT n.3468_3469insCTCCCTTCT n.2658_2659insCTCCCTTCT c.2472_2473insCTCCCTTCT (p.Gly824_Ser825insLeuProSer) c.2427_2428insCTCCCTTCT (p.Gly809_Ser810insLeuProSer) c.2382_2383insCTCCCTTCT (p.Gly794_Ser795insLeuProSer) c.2451_2452insCTCCCTTCT (p.Gly817_Ser818insLeuProSer) c.2436_2437insCTCCCTTCT (p.Gly812_Ser813insLeuProSer) c.2415_2416insCTCCCTTCT (p.Gly805_Ser806insLeuProSer) c.2409_2410insCTCCCTTCT (p.Gly803_Ser804insLeuProSer) c.2364_2365insCTCCCTTCT (p.Gly788_Ser789insLeuProSer) c.2355_2356insCTCCCTTCT (p.Gly785_Ser786insLeuProSer) c.2331_2332insCTCCCTTCT (p.Gly777_Ser778insLeuProSer) c.2325_2326insCTCCCTTCT (p.Gly775_Ser776insLeuProSer) c.2298_2299insCTCCCTTCT (p.Gly766_Ser767insLeuProSer) c.2292_2293insCTCCCTTCT (p.Gly764_Ser765insLeuProSer) c.2286_2287insCTCCCTTCT (p.Gly762_Ser763insLeuProSer) c.2235_2236insCTCCCTTCT (p.Gly745_Ser746insLeuProSer) c.2154_2155insCTCCCTTCT (p.Gly718_Ser719insLeuProSer) c.2308-297_2308-296insCTCCCTTCT (n.2308-297_2308-296insCTCCCTTCT) c.2076_2077insCTCCCTTCT (p.Gly692_Ser693insLeuProSer) c.2208+1092_2208+1093insCTCCCTTCT (n.2208+1092_2208+1093insCTCCCTTCT) c.1296_1297insCTCCCTTCT (p.Gly432_Ser433insLeuProSer) n.2572_2573insCTCCCTTCT | |
17 | g.39724753T>A | CA399302876 | ERBB2 | c.2335T>A (p.Ser779Thr) c.2245T>A (p.Ser749Thr) c.1507T>A (p.Ser503Thr) c.2290T>A (p.Ser764Thr) c.*2125T>A (n.*2125T>A) c.441T>A n.3469T>A n.2659T>A c.2473T>A (p.Ser825Thr) c.2428T>A (p.Ser810Thr) c.2383T>A (p.Ser795Thr) c.2452T>A (p.Ser818Thr) c.2437T>A (p.Ser813Thr) c.2416T>A (p.Ser806Thr) c.2410T>A (p.Ser804Thr) c.2365T>A (p.Ser789Thr) c.2356T>A (p.Ser786Thr) c.2332T>A (p.Ser778Thr) c.2326T>A (p.Ser776Thr) c.2299T>A (p.Ser767Thr) c.2293T>A (p.Ser765Thr) c.2287T>A (p.Ser763Thr) c.2236T>A (p.Ser746Thr) c.2155T>A (p.Ser719Thr) c.2308-296T>A (n.2308-296T>A) c.2077T>A (p.Ser693Thr) c.2208+1093T>A (n.2208+1093T>A) c.1297T>A (p.Ser433Thr) n.2573T>A | dbSNP gnomAD v4 |
17 | g.39724753T>C | CA399302877 | ERBB2 | c.2335T>C (p.Ser779Pro) c.2245T>C (p.Ser749Pro) c.1507T>C (p.Ser503Pro) c.2290T>C (p.Ser764Pro) c.*2125T>C (n.*2125T>C) c.441T>C n.3469T>C n.2659T>C c.2473T>C (p.Ser825Pro) c.2428T>C (p.Ser810Pro) c.2383T>C (p.Ser795Pro) c.2452T>C (p.Ser818Pro) c.2437T>C (p.Ser813Pro) c.2416T>C (p.Ser806Pro) c.2410T>C (p.Ser804Pro) c.2365T>C (p.Ser789Pro) c.2356T>C (p.Ser786Pro) c.2332T>C (p.Ser778Pro) c.2326T>C (p.Ser776Pro) c.2299T>C (p.Ser767Pro) c.2293T>C (p.Ser765Pro) c.2287T>C (p.Ser763Pro) c.2236T>C (p.Ser746Pro) c.2155T>C (p.Ser719Pro) c.2308-296T>C (n.2308-296T>C) c.2077T>C (p.Ser693Pro) c.2208+1093T>C (n.2208+1093T>C) c.1297T>C (p.Ser433Pro) n.2573T>C | COSMIC |
17 | g.39724753T>G | CA399302879 | ERBB2 | c.2335T>G (p.Ser779Ala) c.2245T>G (p.Ser749Ala) c.1507T>G (p.Ser503Ala) c.2290T>G (p.Ser764Ala) c.*2125T>G (n.*2125T>G) c.441T>G n.3469T>G n.2659T>G c.2473T>G (p.Ser825Ala) c.2428T>G (p.Ser810Ala) c.2383T>G (p.Ser795Ala) c.2452T>G (p.Ser818Ala) c.2437T>G (p.Ser813Ala) c.2416T>G (p.Ser806Ala) c.2410T>G (p.Ser804Ala) c.2365T>G (p.Ser789Ala) c.2356T>G (p.Ser786Ala) c.2332T>G (p.Ser778Ala) c.2326T>G (p.Ser776Ala) c.2299T>G (p.Ser767Ala) c.2293T>G (p.Ser765Ala) c.2287T>G (p.Ser763Ala) c.2236T>G (p.Ser746Ala) c.2155T>G (p.Ser719Ala) c.2308-296T>G (n.2308-296T>G) c.2077T>G (p.Ser693Ala) c.2208+1093T>G (n.2208+1093T>G) c.1297T>G (p.Ser433Ala) n.2573T>G | |
17 | g.39724753T= | CA2259227992 | ERBB2 | c.2335T= (p.Ser779=) c.2245T= (p.Ser749=) c.1507T= (p.Ser503=) c.2290T= (p.Ser764=) c.*2125T= (n.*2125T=) c.441T= n.3469T= n.2659T= c.2473T= (p.Ser825=) c.2428T= (p.Ser810=) c.2383T= (p.Ser795=) c.2452T= (p.Ser818=) c.2437T= (p.Ser813=) c.2416T= (p.Ser806=) c.2410T= (p.Ser804=) c.2365T= (p.Ser789=) c.2356T= (p.Ser786=) c.2332T= (p.Ser778=) c.2326T= (p.Ser776=) c.2299T= (p.Ser767=) c.2293T= (p.Ser765=) c.2287T= (p.Ser763=) c.2236T= (p.Ser746=) c.2155T= (p.Ser719=) c.2308-296T= (n.2308-296T=) c.2077T= (p.Ser693=) c.2208+1093T= (n.2208+1093T=) c.1297T= (p.Ser433=) n.2573T= | |
17 | g.39724754C>A | CA399302881 | ERBB2 | c.2336C>A (p.Ser779Tyr) c.2246C>A (p.Ser749Tyr) c.1508C>A (p.Ser503Tyr) c.2291C>A (p.Ser764Tyr) c.*2126C>A (n.*2126C>A) c.442C>A n.3470C>A n.2660C>A c.2474C>A (p.Ser825Tyr) c.2429C>A (p.Ser810Tyr) c.2384C>A (p.Ser795Tyr) c.2453C>A (p.Ser818Tyr) c.2438C>A (p.Ser813Tyr) c.2417C>A (p.Ser806Tyr) c.2411C>A (p.Ser804Tyr) c.2366C>A (p.Ser789Tyr) c.2357C>A (p.Ser786Tyr) c.2333C>A (p.Ser778Tyr) c.2327C>A (p.Ser776Tyr) c.2300C>A (p.Ser767Tyr) c.2294C>A (p.Ser765Tyr) c.2288C>A (p.Ser763Tyr) c.2237C>A (p.Ser746Tyr) c.2156C>A (p.Ser719Tyr) c.2308-295C>A (n.2308-295C>A) c.2078C>A (p.Ser693Tyr) c.2208+1094C>A (n.2208+1094C>A) c.1298C>A (p.Ser433Tyr) n.2574C>A | |
17 | g.39724754C= | CA2259227993 | ERBB2 | c.2336C= (p.Ser779=) c.2246C= (p.Ser749=) c.1508C= (p.Ser503=) c.2291C= (p.Ser764=) c.*2126C= (n.*2126C=) c.442C= n.3470C= n.2660C= c.2474C= (p.Ser825=) c.2429C= (p.Ser810=) c.2384C= (p.Ser795=) c.2453C= (p.Ser818=) c.2438C= (p.Ser813=) c.2417C= (p.Ser806=) c.2411C= (p.Ser804=) c.2366C= (p.Ser789=) c.2357C= (p.Ser786=) c.2333C= (p.Ser778=) c.2327C= (p.Ser776=) c.2300C= (p.Ser767=) c.2294C= (p.Ser765=) c.2288C= (p.Ser763=) c.2237C= (p.Ser746=) c.2156C= (p.Ser719=) c.2308-295C= (n.2308-295C=) c.2078C= (p.Ser693=) c.2208+1094C= (n.2208+1094C=) c.1298C= (p.Ser433=) n.2574C= | |
17 | g.39724754C>G | CA399302883 | ERBB2 | c.2336C>G (p.Ser779Cys) c.2246C>G (p.Ser749Cys) c.1508C>G (p.Ser503Cys) c.2291C>G (p.Ser764Cys) c.*2126C>G (n.*2126C>G) c.442C>G n.3470C>G n.2660C>G c.2474C>G (p.Ser825Cys) c.2429C>G (p.Ser810Cys) c.2384C>G (p.Ser795Cys) c.2453C>G (p.Ser818Cys) c.2438C>G (p.Ser813Cys) c.2417C>G (p.Ser806Cys) c.2411C>G (p.Ser804Cys) c.2366C>G (p.Ser789Cys) c.2357C>G (p.Ser786Cys) c.2333C>G (p.Ser778Cys) c.2327C>G (p.Ser776Cys) c.2300C>G (p.Ser767Cys) c.2294C>G (p.Ser765Cys) c.2288C>G (p.Ser763Cys) c.2237C>G (p.Ser746Cys) c.2156C>G (p.Ser719Cys) c.2308-295C>G (n.2308-295C>G) c.2078C>G (p.Ser693Cys) c.2208+1094C>G (n.2208+1094C>G) c.1298C>G (p.Ser433Cys) n.2574C>G | dbSNP |
17 | g.39724754C>T | CA8534283 | ERBB2 | c.2336C>T (p.Ser779Phe) c.2246C>T (p.Ser749Phe) c.1508C>T (p.Ser503Phe) c.2291C>T (p.Ser764Phe) c.*2126C>T (n.*2126C>T) c.442C>T n.3470C>T n.2660C>T c.2474C>T (p.Ser825Phe) c.2429C>T (p.Ser810Phe) c.2384C>T (p.Ser795Phe) c.2453C>T (p.Ser818Phe) c.2438C>T (p.Ser813Phe) c.2417C>T (p.Ser806Phe) c.2411C>T (p.Ser804Phe) c.2366C>T (p.Ser789Phe) c.2357C>T (p.Ser786Phe) c.2333C>T (p.Ser778Phe) c.2327C>T (p.Ser776Phe) c.2300C>T (p.Ser767Phe) c.2294C>T (p.Ser765Phe) c.2288C>T (p.Ser763Phe) c.2237C>T (p.Ser746Phe) c.2156C>T (p.Ser719Phe) c.2308-295C>T (n.2308-295C>T) c.2078C>T (p.Ser693Phe) c.2208+1094C>T (n.2208+1094C>T) c.1298C>T (p.Ser433Phe) n.2574C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724755C>A | CA499670847 | ERBB2 | c.2337C>A (p.Ser779=) c.2247C>A (p.Ser749=) c.1509C>A (p.Ser503=) c.2292C>A (p.Ser764=) c.*2127C>A (n.*2127C>A) c.443C>A n.3471C>A n.2661C>A c.2475C>A (p.Ser825=) c.2430C>A (p.Ser810=) c.2385C>A (p.Ser795=) c.2454C>A (p.Ser818=) c.2439C>A (p.Ser813=) c.2418C>A (p.Ser806=) c.2412C>A (p.Ser804=) c.2367C>A (p.Ser789=) c.2358C>A (p.Ser786=) c.2334C>A (p.Ser778=) c.2328C>A (p.Ser776=) c.2301C>A (p.Ser767=) c.2295C>A (p.Ser765=) c.2289C>A (p.Ser763=) c.2238C>A (p.Ser746=) c.2157C>A (p.Ser719=) c.2308-294C>A (n.2308-294C>A) c.2079C>A (p.Ser693=) c.2208+1095C>A (n.2208+1095C>A) c.1299C>A (p.Ser433=) n.2575C>A | dbSNP |
17 | g.39724755C= | CA2259227994 | ERBB2 | c.2337C= (p.Ser779=) c.2247C= (p.Ser749=) c.1509C= (p.Ser503=) c.2292C= (p.Ser764=) c.*2127C= (n.*2127C=) c.443C= n.3471C= n.2661C= c.2475C= (p.Ser825=) c.2430C= (p.Ser810=) c.2385C= (p.Ser795=) c.2454C= (p.Ser818=) c.2439C= (p.Ser813=) c.2418C= (p.Ser806=) c.2412C= (p.Ser804=) c.2367C= (p.Ser789=) c.2358C= (p.Ser786=) c.2334C= (p.Ser778=) c.2328C= (p.Ser776=) c.2301C= (p.Ser767=) c.2295C= (p.Ser765=) c.2289C= (p.Ser763=) c.2238C= (p.Ser746=) c.2157C= (p.Ser719=) c.2308-294C= (n.2308-294C=) c.2079C= (p.Ser693=) c.2208+1095C= (n.2208+1095C=) c.1299C= (p.Ser433=) n.2575C= | |
17 | g.39724755C>G | CA499670848 | ERBB2 | c.2337C>G (p.Ser779=) c.2247C>G (p.Ser749=) c.1509C>G (p.Ser503=) c.2292C>G (p.Ser764=) c.*2127C>G (n.*2127C>G) c.443C>G n.3471C>G n.2661C>G c.2475C>G (p.Ser825=) c.2430C>G (p.Ser810=) c.2385C>G (p.Ser795=) c.2454C>G (p.Ser818=) c.2439C>G (p.Ser813=) c.2418C>G (p.Ser806=) c.2412C>G (p.Ser804=) c.2367C>G (p.Ser789=) c.2358C>G (p.Ser786=) c.2334C>G (p.Ser778=) c.2328C>G (p.Ser776=) c.2301C>G (p.Ser767=) c.2295C>G (p.Ser765=) c.2289C>G (p.Ser763=) c.2238C>G (p.Ser746=) c.2157C>G (p.Ser719=) c.2308-294C>G (n.2308-294C>G) c.2079C>G (p.Ser693=) c.2208+1095C>G (n.2208+1095C>G) c.1299C>G (p.Ser433=) n.2575C>G | dbSNP |
17 | g.39724755C>T | CA8534284 | ERBB2 | c.2337C>T (p.Ser779=) c.2247C>T (p.Ser749=) c.1509C>T (p.Ser503=) c.2292C>T (p.Ser764=) c.*2127C>T (n.*2127C>T) c.443C>T n.3471C>T n.2661C>T c.2475C>T (p.Ser825=) c.2430C>T (p.Ser810=) c.2385C>T (p.Ser795=) c.2454C>T (p.Ser818=) c.2439C>T (p.Ser813=) c.2418C>T (p.Ser806=) c.2412C>T (p.Ser804=) c.2367C>T (p.Ser789=) c.2358C>T (p.Ser786=) c.2334C>T (p.Ser778=) c.2328C>T (p.Ser776=) c.2301C>T (p.Ser767=) c.2295C>T (p.Ser765=) c.2289C>T (p.Ser763=) c.2238C>T (p.Ser746=) c.2157C>T (p.Ser719=) c.2308-294C>T (n.2308-294C>T) c.2079C>T (p.Ser693=) c.2208+1095C>T (n.2208+1095C>T) c.1299C>T (p.Ser433=) n.2575C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724755_39724756insGTGGGGAGT | CA2825000814 | ERBB2 | c.2337_2338insGTGGGGAGT (p.Ser779_Pro780insValGlySer) c.2247_2248insGTGGGGAGT (p.Ser749_Pro750insValGlySer) c.1509_1510insGTGGGGAGT (p.Ser503_Pro504insValGlySer) c.2292_2293insGTGGGGAGT (p.Ser764_Pro765insValGlySer) c.*2127_*2128insGTGGGGAGT (n.*2127_*2128insGTGGGGAGT) c.443_444insGTGGGGAGT n.3471_3472insGTGGGGAGT n.2661_2662insGTGGGGAGT c.2475_2476insGTGGGGAGT (p.Ser825_Pro826insValGlySer) c.2430_2431insGTGGGGAGT (p.Ser810_Pro811insValGlySer) c.2385_2386insGTGGGGAGT (p.Ser795_Pro796insValGlySer) c.2454_2455insGTGGGGAGT (p.Ser818_Pro819insValGlySer) c.2439_2440insGTGGGGAGT (p.Ser813_Pro814insValGlySer) c.2418_2419insGTGGGGAGT (p.Ser806_Pro807insValGlySer) c.2412_2413insGTGGGGAGT (p.Ser804_Pro805insValGlySer) c.2367_2368insGTGGGGAGT (p.Ser789_Pro790insValGlySer) c.2358_2359insGTGGGGAGT (p.Ser786_Pro787insValGlySer) c.2334_2335insGTGGGGAGT (p.Ser778_Pro779insValGlySer) c.2328_2329insGTGGGGAGT (p.Ser776_Pro777insValGlySer) c.2301_2302insGTGGGGAGT (p.Ser767_Pro768insValGlySer) c.2295_2296insGTGGGGAGT (p.Ser765_Pro766insValGlySer) c.2289_2290insGTGGGGAGT (p.Ser763_Pro764insValGlySer) c.2238_2239insGTGGGGAGT (p.Ser746_Pro747insValGlySer) c.2157_2158insGTGGGGAGT (p.Ser719_Pro720insValGlySer) c.2308-294_2308-293insGTGGGGAGT (n.2308-294_2308-293insGTGGGGAGT) c.2079_2080insGTGGGGAGT (p.Ser693_Pro694insValGlySer) c.2208+1095_2208+1096insGTGGGGAGT (n.2208+1095_2208+1096insGTGGGGAGT) c.1299_1300insGTGGGGAGT (p.Ser433_Pro434insValGlySer) n.2575_2576insGTGGGGAGT | |
17 | g.39724756C>A | CA399302884 | ERBB2 | c.2338C>A (p.Pro780Thr) c.2248C>A (p.Pro750Thr) c.1510C>A (p.Pro504Thr) c.2293C>A (p.Pro765Thr) c.*2128C>A (n.*2128C>A) c.444C>A n.3472C>A n.2662C>A c.2476C>A (p.Pro826Thr) c.2431C>A (p.Pro811Thr) c.2386C>A (p.Pro796Thr) c.2455C>A (p.Pro819Thr) c.2440C>A (p.Pro814Thr) c.2419C>A (p.Pro807Thr) c.2413C>A (p.Pro805Thr) c.2368C>A (p.Pro790Thr) c.2359C>A (p.Pro787Thr) c.2335C>A (p.Pro779Thr) c.2329C>A (p.Pro777Thr) c.2302C>A (p.Pro768Thr) c.2296C>A (p.Pro766Thr) c.2290C>A (p.Pro764Thr) c.2239C>A (p.Pro747Thr) c.2158C>A (p.Pro720Thr) c.2308-293C>A (n.2308-293C>A) c.2080C>A (p.Pro694Thr) c.2208+1096C>A (n.2208+1096C>A) c.1300C>A (p.Pro434Thr) n.2576C>A | dbSNP COSMIC |
17 | g.39724756C= | CA2259227995 | ERBB2 | c.2338C= (p.Pro780=) c.2248C= (p.Pro750=) c.1510C= (p.Pro504=) c.2293C= (p.Pro765=) c.*2128C= (n.*2128C=) c.444C= n.3472C= n.2662C= c.2476C= (p.Pro826=) c.2431C= (p.Pro811=) c.2386C= (p.Pro796=) c.2455C= (p.Pro819=) c.2440C= (p.Pro814=) c.2419C= (p.Pro807=) c.2413C= (p.Pro805=) c.2368C= (p.Pro790=) c.2359C= (p.Pro787=) c.2335C= (p.Pro779=) c.2329C= (p.Pro777=) c.2302C= (p.Pro768=) c.2296C= (p.Pro766=) c.2290C= (p.Pro764=) c.2239C= (p.Pro747=) c.2158C= (p.Pro720=) c.2308-293C= (n.2308-293C=) c.2080C= (p.Pro694=) c.2208+1096C= (n.2208+1096C=) c.1300C= (p.Pro434=) n.2576C= | |
17 | g.39724756C>G | CA399302885 | ERBB2 | c.2338C>G (p.Pro780Ala) c.2248C>G (p.Pro750Ala) c.1510C>G (p.Pro504Ala) c.2293C>G (p.Pro765Ala) c.*2128C>G (n.*2128C>G) c.444C>G n.3472C>G n.2662C>G c.2476C>G (p.Pro826Ala) c.2431C>G (p.Pro811Ala) c.2386C>G (p.Pro796Ala) c.2455C>G (p.Pro819Ala) c.2440C>G (p.Pro814Ala) c.2419C>G (p.Pro807Ala) c.2413C>G (p.Pro805Ala) c.2368C>G (p.Pro790Ala) c.2359C>G (p.Pro787Ala) c.2335C>G (p.Pro779Ala) c.2329C>G (p.Pro777Ala) c.2302C>G (p.Pro768Ala) c.2296C>G (p.Pro766Ala) c.2290C>G (p.Pro764Ala) c.2239C>G (p.Pro747Ala) c.2158C>G (p.Pro720Ala) c.2308-293C>G (n.2308-293C>G) c.2080C>G (p.Pro694Ala) c.2208+1096C>G (n.2208+1096C>G) c.1300C>G (p.Pro434Ala) n.2576C>G | dbSNP |
17 | g.39724756C>T | CA399302886 | ERBB2 | c.2338C>T (p.Pro780Ser) c.2248C>T (p.Pro750Ser) c.1510C>T (p.Pro504Ser) c.2293C>T (p.Pro765Ser) c.*2128C>T (n.*2128C>T) c.444C>T n.3472C>T n.2662C>T c.2476C>T (p.Pro826Ser) c.2431C>T (p.Pro811Ser) c.2386C>T (p.Pro796Ser) c.2455C>T (p.Pro819Ser) c.2440C>T (p.Pro814Ser) c.2419C>T (p.Pro807Ser) c.2413C>T (p.Pro805Ser) c.2368C>T (p.Pro790Ser) c.2359C>T (p.Pro787Ser) c.2335C>T (p.Pro779Ser) c.2329C>T (p.Pro777Ser) c.2302C>T (p.Pro768Ser) c.2296C>T (p.Pro766Ser) c.2290C>T (p.Pro764Ser) c.2239C>T (p.Pro747Ser) c.2158C>T (p.Pro720Ser) c.2308-293C>T (n.2308-293C>T) c.2080C>T (p.Pro694Ser) c.2208+1096C>T (n.2208+1096C>T) c.1300C>T (p.Pro434Ser) n.2576C>T | dbSNP gnomAD v2 COSMIC |
17 | g.39724757C>A | CA399302887 | ERBB2 | c.2339C>A (p.Pro780Gln) c.2249C>A (p.Pro750Gln) c.1511C>A (p.Pro504Gln) c.2294C>A (p.Pro765Gln) c.*2129C>A (n.*2129C>A) c.445C>A n.3473C>A n.2663C>A c.2477C>A (p.Pro826Gln) c.2432C>A (p.Pro811Gln) c.2387C>A (p.Pro796Gln) c.2456C>A (p.Pro819Gln) c.2441C>A (p.Pro814Gln) c.2420C>A (p.Pro807Gln) c.2414C>A (p.Pro805Gln) c.2369C>A (p.Pro790Gln) c.2360C>A (p.Pro787Gln) c.2336C>A (p.Pro779Gln) c.2330C>A (p.Pro777Gln) c.2303C>A (p.Pro768Gln) c.2297C>A (p.Pro766Gln) c.2291C>A (p.Pro764Gln) c.2240C>A (p.Pro747Gln) c.2159C>A (p.Pro720Gln) c.2308-292C>A (n.2308-292C>A) c.2081C>A (p.Pro694Gln) c.2208+1097C>A (n.2208+1097C>A) c.1301C>A (p.Pro434Gln) n.2577C>A | dbSNP |
17 | g.39724757C>G | CA399302888 | ERBB2 | c.2339C>G (p.Pro780Arg) c.2249C>G (p.Pro750Arg) c.1511C>G (p.Pro504Arg) c.2294C>G (p.Pro765Arg) c.*2129C>G (n.*2129C>G) c.445C>G n.3473C>G n.2663C>G c.2477C>G (p.Pro826Arg) c.2432C>G (p.Pro811Arg) c.2387C>G (p.Pro796Arg) c.2456C>G (p.Pro819Arg) c.2441C>G (p.Pro814Arg) c.2420C>G (p.Pro807Arg) c.2414C>G (p.Pro805Arg) c.2369C>G (p.Pro790Arg) c.2360C>G (p.Pro787Arg) c.2336C>G (p.Pro779Arg) c.2330C>G (p.Pro777Arg) c.2303C>G (p.Pro768Arg) c.2297C>G (p.Pro766Arg) c.2291C>G (p.Pro764Arg) c.2240C>G (p.Pro747Arg) c.2159C>G (p.Pro720Arg) c.2308-292C>G (n.2308-292C>G) c.2081C>G (p.Pro694Arg) c.2208+1097C>G (n.2208+1097C>G) c.1301C>G (p.Pro434Arg) n.2577C>G | dbSNP |
17 | g.39724757C>T | CA399302889 | ERBB2 | c.2339C>T (p.Pro780Leu) c.2249C>T (p.Pro750Leu) c.1511C>T (p.Pro504Leu) c.2294C>T (p.Pro765Leu) c.*2129C>T (n.*2129C>T) c.445C>T n.3473C>T n.2663C>T c.2477C>T (p.Pro826Leu) c.2432C>T (p.Pro811Leu) c.2387C>T (p.Pro796Leu) c.2456C>T (p.Pro819Leu) c.2441C>T (p.Pro814Leu) c.2420C>T (p.Pro807Leu) c.2414C>T (p.Pro805Leu) c.2369C>T (p.Pro790Leu) c.2360C>T (p.Pro787Leu) c.2336C>T (p.Pro779Leu) c.2330C>T (p.Pro777Leu) c.2303C>T (p.Pro768Leu) c.2297C>T (p.Pro766Leu) c.2291C>T (p.Pro764Leu) c.2240C>T (p.Pro747Leu) c.2159C>T (p.Pro720Leu) c.2308-292C>T (n.2308-292C>T) c.2081C>T (p.Pro694Leu) c.2208+1097C>T (n.2208+1097C>T) c.1301C>T (p.Pro434Leu) n.2577C>T | dbSNP |
17 | g.39724758A>C | CA499670849 | ERBB2 | c.2340A>C (p.Pro780=) c.2250A>C (p.Pro750=) c.1512A>C (p.Pro504=) c.2295A>C (p.Pro765=) c.*2130A>C (n.*2130A>C) c.446A>C n.3474A>C n.2664A>C c.2478A>C (p.Pro826=) c.2433A>C (p.Pro811=) c.2388A>C (p.Pro796=) c.2457A>C (p.Pro819=) c.2442A>C (p.Pro814=) c.2421A>C (p.Pro807=) c.2415A>C (p.Pro805=) c.2370A>C (p.Pro790=) c.2361A>C (p.Pro787=) c.2337A>C (p.Pro779=) c.2331A>C (p.Pro777=) c.2304A>C (p.Pro768=) c.2298A>C (p.Pro766=) c.2292A>C (p.Pro764=) c.2241A>C (p.Pro747=) c.2160A>C (p.Pro720=) c.2308-291A>C (n.2308-291A>C) c.2082A>C (p.Pro694=) c.2208+1098A>C (n.2208+1098A>C) c.1302A>C (p.Pro434=) n.2578A>C | dbSNP gnomAD v4 |
17 | g.39724758A>G | CA499670850 | ERBB2 | c.2340A>G (p.Pro780=) c.2250A>G (p.Pro750=) c.1512A>G (p.Pro504=) c.2295A>G (p.Pro765=) c.*2130A>G (n.*2130A>G) c.446A>G n.3474A>G n.2664A>G c.2478A>G (p.Pro826=) c.2433A>G (p.Pro811=) c.2388A>G (p.Pro796=) c.2457A>G (p.Pro819=) c.2442A>G (p.Pro814=) c.2421A>G (p.Pro807=) c.2415A>G (p.Pro805=) c.2370A>G (p.Pro790=) c.2361A>G (p.Pro787=) c.2337A>G (p.Pro779=) c.2331A>G (p.Pro777=) c.2304A>G (p.Pro768=) c.2298A>G (p.Pro766=) c.2292A>G (p.Pro764=) c.2241A>G (p.Pro747=) c.2160A>G (p.Pro720=) c.2308-291A>G (n.2308-291A>G) c.2082A>G (p.Pro694=) c.2208+1098A>G (n.2208+1098A>G) c.1302A>G (p.Pro434=) n.2578A>G | gnomAD v4 |
17 | g.39724758A>T | CA499670851 | ERBB2 | c.2340A>T (p.Pro780=) c.2250A>T (p.Pro750=) c.1512A>T (p.Pro504=) c.2295A>T (p.Pro765=) c.*2130A>T (n.*2130A>T) c.446A>T n.3474A>T n.2664A>T c.2478A>T (p.Pro826=) c.2433A>T (p.Pro811=) c.2388A>T (p.Pro796=) c.2457A>T (p.Pro819=) c.2442A>T (p.Pro814=) c.2421A>T (p.Pro807=) c.2415A>T (p.Pro805=) c.2370A>T (p.Pro790=) c.2361A>T (p.Pro787=) c.2337A>T (p.Pro779=) c.2331A>T (p.Pro777=) c.2304A>T (p.Pro768=) c.2298A>T (p.Pro766=) c.2292A>T (p.Pro764=) c.2241A>T (p.Pro747=) c.2160A>T (p.Pro720=) c.2308-291A>T (n.2308-291A>T) c.2082A>T (p.Pro694=) c.2208+1098A>T (n.2208+1098A>T) c.1302A>T (p.Pro434=) n.2578A>T | |
17 | g.39724760_39724761del | CA2580617810 | ERBB2 | c.2342_2343del (p.Tyr781CysfsTer?) c.2252_2253del (p.Tyr751CysfsTer?) c.1514_1515del (p.Tyr505CysfsTer?) c.2297_2298del (p.Tyr766CysfsTer?) c.*2132_*2133del (n.*2132_*2133del) c.448_449del n.3476_3477del n.2666_2667del c.2480_2481del (p.Tyr827CysfsTer?) c.2435_2436del (p.Tyr812CysfsTer?) c.2390_2391del (p.Tyr797CysfsTer?) c.2459_2460del (p.Tyr820CysfsTer?) c.2444_2445del (p.Tyr815CysfsTer?) c.2423_2424del (p.Tyr808CysfsTer?) c.2417_2418del (p.Tyr806CysfsTer?) c.2372_2373del (p.Tyr791CysfsTer?) c.2363_2364del (p.Tyr788CysfsTer?) c.2339_2340del (p.Tyr780CysfsTer?) c.2333_2334del (p.Tyr778CysfsTer?) c.2306_2307del (p.Tyr769CysfsTer?) c.2300_2301del (p.Tyr767CysfsTer?) c.2294_2295del (p.Tyr765CysfsTer?) c.2243_2244del (p.Tyr748CysfsTer?) c.2162_2163del (p.Tyr721CysfsTer?) c.2308-289_2308-288del (n.2308-289_2308-288del) c.2084_2085del (p.Tyr695CysfsTer?) c.2208+1100_2208+1101del (n.2208+1100_2208+1101del) c.1304_1305del (p.Tyr435CysfsTer?) n.2580_2581del | gnomAD v4 |
17 | g.39724759T>A | CA399302890 | ERBB2 | c.2341T>A (p.Tyr781Asn) c.2251T>A (p.Tyr751Asn) c.1513T>A (p.Tyr505Asn) c.2296T>A (p.Tyr766Asn) c.*2131T>A (n.*2131T>A) c.447T>A n.3475T>A n.2665T>A c.2479T>A (p.Tyr827Asn) c.2434T>A (p.Tyr812Asn) c.2389T>A (p.Tyr797Asn) c.2458T>A (p.Tyr820Asn) c.2443T>A (p.Tyr815Asn) c.2422T>A (p.Tyr808Asn) c.2416T>A (p.Tyr806Asn) c.2371T>A (p.Tyr791Asn) c.2362T>A (p.Tyr788Asn) c.2338T>A (p.Tyr780Asn) c.2332T>A (p.Tyr778Asn) c.2305T>A (p.Tyr769Asn) c.2299T>A (p.Tyr767Asn) c.2293T>A (p.Tyr765Asn) c.2242T>A (p.Tyr748Asn) c.2161T>A (p.Tyr721Asn) c.2308-290T>A (n.2308-290T>A) c.2083T>A (p.Tyr695Asn) c.2208+1099T>A (n.2208+1099T>A) c.1303T>A (p.Tyr435Asn) n.2579T>A | dbSNP gnomAD v4 |
17 | g.39724759T>C | CA399302892 | ERBB2 | c.2341T>C (p.Tyr781His) c.2251T>C (p.Tyr751His) c.1513T>C (p.Tyr505His) c.2296T>C (p.Tyr766His) c.*2131T>C (n.*2131T>C) c.447T>C n.3475T>C n.2665T>C c.2479T>C (p.Tyr827His) c.2434T>C (p.Tyr812His) c.2389T>C (p.Tyr797His) c.2458T>C (p.Tyr820His) c.2443T>C (p.Tyr815His) c.2422T>C (p.Tyr808His) c.2416T>C (p.Tyr806His) c.2371T>C (p.Tyr791His) c.2362T>C (p.Tyr788His) c.2338T>C (p.Tyr780His) c.2332T>C (p.Tyr778His) c.2305T>C (p.Tyr769His) c.2299T>C (p.Tyr767His) c.2293T>C (p.Tyr765His) c.2242T>C (p.Tyr748His) c.2161T>C (p.Tyr721His) c.2308-290T>C (n.2308-290T>C) c.2083T>C (p.Tyr695His) c.2208+1099T>C (n.2208+1099T>C) c.1303T>C (p.Tyr435His) n.2579T>C | dbSNP |
17 | g.39724759T>G | CA399302895 | ERBB2 | c.2341T>G (p.Tyr781Asp) c.2251T>G (p.Tyr751Asp) c.1513T>G (p.Tyr505Asp) c.2296T>G (p.Tyr766Asp) c.*2131T>G (n.*2131T>G) c.447T>G n.3475T>G n.2665T>G c.2479T>G (p.Tyr827Asp) c.2434T>G (p.Tyr812Asp) c.2389T>G (p.Tyr797Asp) c.2458T>G (p.Tyr820Asp) c.2443T>G (p.Tyr815Asp) c.2422T>G (p.Tyr808Asp) c.2416T>G (p.Tyr806Asp) c.2371T>G (p.Tyr791Asp) c.2362T>G (p.Tyr788Asp) c.2338T>G (p.Tyr780Asp) c.2332T>G (p.Tyr778Asp) c.2305T>G (p.Tyr769Asp) c.2299T>G (p.Tyr767Asp) c.2293T>G (p.Tyr765Asp) c.2242T>G (p.Tyr748Asp) c.2161T>G (p.Tyr721Asp) c.2308-290T>G (n.2308-290T>G) c.2083T>G (p.Tyr695Asp) c.2208+1099T>G (n.2208+1099T>G) c.1303T>G (p.Tyr435Asp) n.2579T>G | dbSNP |
17 | g.39724760A>C | CA399302899 | ERBB2 | c.2342A>C (p.Tyr781Ser) c.2252A>C (p.Tyr751Ser) c.1514A>C (p.Tyr505Ser) c.2297A>C (p.Tyr766Ser) c.*2132A>C (n.*2132A>C) c.448A>C n.3476A>C n.2666A>C c.2480A>C (p.Tyr827Ser) c.2435A>C (p.Tyr812Ser) c.2390A>C (p.Tyr797Ser) c.2459A>C (p.Tyr820Ser) c.2444A>C (p.Tyr815Ser) c.2423A>C (p.Tyr808Ser) c.2417A>C (p.Tyr806Ser) c.2372A>C (p.Tyr791Ser) c.2363A>C (p.Tyr788Ser) c.2339A>C (p.Tyr780Ser) c.2333A>C (p.Tyr778Ser) c.2306A>C (p.Tyr769Ser) c.2300A>C (p.Tyr767Ser) c.2294A>C (p.Tyr765Ser) c.2243A>C (p.Tyr748Ser) c.2162A>C (p.Tyr721Ser) c.2308-289A>C (n.2308-289A>C) c.2084A>C (p.Tyr695Ser) c.2208+1100A>C (n.2208+1100A>C) c.1304A>C (p.Tyr435Ser) n.2580A>C | |
17 | g.39724760A>G | CA399302901 | ERBB2 | c.2342A>G (p.Tyr781Cys) c.2252A>G (p.Tyr751Cys) c.1514A>G (p.Tyr505Cys) c.2297A>G (p.Tyr766Cys) c.*2132A>G (n.*2132A>G) c.448A>G n.3476A>G n.2666A>G c.2480A>G (p.Tyr827Cys) c.2435A>G (p.Tyr812Cys) c.2390A>G (p.Tyr797Cys) c.2459A>G (p.Tyr820Cys) c.2444A>G (p.Tyr815Cys) c.2423A>G (p.Tyr808Cys) c.2417A>G (p.Tyr806Cys) c.2372A>G (p.Tyr791Cys) c.2363A>G (p.Tyr788Cys) c.2339A>G (p.Tyr780Cys) c.2333A>G (p.Tyr778Cys) c.2306A>G (p.Tyr769Cys) c.2300A>G (p.Tyr767Cys) c.2294A>G (p.Tyr765Cys) c.2243A>G (p.Tyr748Cys) c.2162A>G (p.Tyr721Cys) c.2308-289A>G (n.2308-289A>G) c.2084A>G (p.Tyr695Cys) c.2208+1100A>G (n.2208+1100A>G) c.1304A>G (p.Tyr435Cys) n.2580A>G | dbSNP COSMIC |
17 | g.39724760A>T | CA399302896 | ERBB2 | c.2342A>T (p.Tyr781Phe) c.2252A>T (p.Tyr751Phe) c.1514A>T (p.Tyr505Phe) c.2297A>T (p.Tyr766Phe) c.*2132A>T (n.*2132A>T) c.448A>T n.3476A>T n.2666A>T c.2480A>T (p.Tyr827Phe) c.2435A>T (p.Tyr812Phe) c.2390A>T (p.Tyr797Phe) c.2459A>T (p.Tyr820Phe) c.2444A>T (p.Tyr815Phe) c.2423A>T (p.Tyr808Phe) c.2417A>T (p.Tyr806Phe) c.2372A>T (p.Tyr791Phe) c.2363A>T (p.Tyr788Phe) c.2339A>T (p.Tyr780Phe) c.2333A>T (p.Tyr778Phe) c.2306A>T (p.Tyr769Phe) c.2300A>T (p.Tyr767Phe) c.2294A>T (p.Tyr765Phe) c.2243A>T (p.Tyr748Phe) c.2162A>T (p.Tyr721Phe) c.2308-289A>T (n.2308-289A>T) c.2084A>T (p.Tyr695Phe) c.2208+1100A>T (n.2208+1100A>T) c.1304A>T (p.Tyr435Phe) n.2580A>T | |
17 | g.39724761T>A | CA399302904 | ERBB2 | c.2343T>A (p.Tyr781Ter) c.2253T>A (p.Tyr751Ter) c.1515T>A (p.Tyr505Ter) c.2298T>A (p.Tyr766Ter) c.*2133T>A (n.*2133T>A) c.449T>A n.3477T>A n.2667T>A c.2481T>A (p.Tyr827Ter) c.2436T>A (p.Tyr812Ter) c.2391T>A (p.Tyr797Ter) c.2460T>A (p.Tyr820Ter) c.2445T>A (p.Tyr815Ter) c.2424T>A (p.Tyr808Ter) c.2418T>A (p.Tyr806Ter) c.2373T>A (p.Tyr791Ter) c.2364T>A (p.Tyr788Ter) c.2340T>A (p.Tyr780Ter) c.2334T>A (p.Tyr778Ter) c.2307T>A (p.Tyr769Ter) c.2301T>A (p.Tyr767Ter) c.2295T>A (p.Tyr765Ter) c.2244T>A (p.Tyr748Ter) c.2163T>A (p.Tyr721Ter) c.2308-288T>A (n.2308-288T>A) c.2085T>A (p.Tyr695Ter) c.2208+1101T>A (n.2208+1101T>A) c.1305T>A (p.Tyr435Ter) n.2581T>A | dbSNP |
17 | g.39724761T>C | CA499670852 | ERBB2 | c.2343T>C (p.Tyr781=) c.2253T>C (p.Tyr751=) c.1515T>C (p.Tyr505=) c.2298T>C (p.Tyr766=) c.*2133T>C (n.*2133T>C) c.449T>C n.3477T>C n.2667T>C c.2481T>C (p.Tyr827=) c.2436T>C (p.Tyr812=) c.2391T>C (p.Tyr797=) c.2460T>C (p.Tyr820=) c.2445T>C (p.Tyr815=) c.2424T>C (p.Tyr808=) c.2418T>C (p.Tyr806=) c.2373T>C (p.Tyr791=) c.2364T>C (p.Tyr788=) c.2340T>C (p.Tyr780=) c.2334T>C (p.Tyr778=) c.2307T>C (p.Tyr769=) c.2301T>C (p.Tyr767=) c.2295T>C (p.Tyr765=) c.2244T>C (p.Tyr748=) c.2163T>C (p.Tyr721=) c.2308-288T>C (n.2308-288T>C) c.2085T>C (p.Tyr695=) c.2208+1101T>C (n.2208+1101T>C) c.1305T>C (p.Tyr435=) n.2581T>C | gnomAD v4 COSMIC |
17 | g.39724761T>G | CA399302906 | ERBB2 | c.2343T>G (p.Tyr781Ter) c.2253T>G (p.Tyr751Ter) c.1515T>G (p.Tyr505Ter) c.2298T>G (p.Tyr766Ter) c.*2133T>G (n.*2133T>G) c.449T>G n.3477T>G n.2667T>G c.2481T>G (p.Tyr827Ter) c.2436T>G (p.Tyr812Ter) c.2391T>G (p.Tyr797Ter) c.2460T>G (p.Tyr820Ter) c.2445T>G (p.Tyr815Ter) c.2424T>G (p.Tyr808Ter) c.2418T>G (p.Tyr806Ter) c.2373T>G (p.Tyr791Ter) c.2364T>G (p.Tyr788Ter) c.2340T>G (p.Tyr780Ter) c.2334T>G (p.Tyr778Ter) c.2307T>G (p.Tyr769Ter) c.2301T>G (p.Tyr767Ter) c.2295T>G (p.Tyr765Ter) c.2244T>G (p.Tyr748Ter) c.2163T>G (p.Tyr721Ter) c.2308-288T>G (n.2308-288T>G) c.2085T>G (p.Tyr695Ter) c.2208+1101T>G (n.2208+1101T>G) c.1305T>G (p.Tyr435Ter) n.2581T>G | dbSNP |
17 | g.39724762G>A | CA399302908 | ERBB2 | c.2344G>A (p.Val782Ile) c.2254G>A (p.Val752Ile) c.1516G>A (p.Val506Ile) c.2299G>A (p.Val767Ile) c.*2134G>A (n.*2134G>A) c.450G>A n.3478G>A n.2668G>A c.2482G>A (p.Val828Ile) c.2437G>A (p.Val813Ile) c.2392G>A (p.Val798Ile) c.2461G>A (p.Val821Ile) c.2446G>A (p.Val816Ile) c.2425G>A (p.Val809Ile) c.2419G>A (p.Val807Ile) c.2374G>A (p.Val792Ile) c.2365G>A (p.Val789Ile) c.2341G>A (p.Val781Ile) c.2335G>A (p.Val779Ile) c.2308G>A (p.Val770Ile) c.2302G>A (p.Val768Ile) c.2296G>A (p.Val766Ile) c.2245G>A (p.Val749Ile) c.2164G>A (p.Val722Ile) c.2308-287G>A (n.2308-287G>A) c.2086G>A (p.Val696Ile) c.2208+1102G>A (n.2208+1102G>A) c.1306G>A (p.Val436Ile) n.2582G>A | dbSNP |
17 | g.39724762G>C | CA399302911 | ERBB2 | c.2344G>C (p.Val782Leu) c.2254G>C (p.Val752Leu) c.1516G>C (p.Val506Leu) c.2299G>C (p.Val767Leu) c.*2134G>C (n.*2134G>C) c.450G>C n.3478G>C n.2668G>C c.2482G>C (p.Val828Leu) c.2437G>C (p.Val813Leu) c.2392G>C (p.Val798Leu) c.2461G>C (p.Val821Leu) c.2446G>C (p.Val816Leu) c.2425G>C (p.Val809Leu) c.2419G>C (p.Val807Leu) c.2374G>C (p.Val792Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) c.2335G>C (p.Val779Leu) c.2308G>C (p.Val770Leu) c.2302G>C (p.Val768Leu) c.2296G>C (p.Val766Leu) c.2245G>C (p.Val749Leu) c.2164G>C (p.Val722Leu) c.2308-287G>C (n.2308-287G>C) c.2086G>C (p.Val696Leu) c.2208+1102G>C (n.2208+1102G>C) c.1306G>C (p.Val436Leu) n.2582G>C | dbSNP |
17 | g.39724762G= | CA2259227996 | ERBB2 | c.2344G= (p.Val782=) c.2254G= (p.Val752=) c.1516G= (p.Val506=) c.2299G= (p.Val767=) c.*2134G= (n.*2134G=) c.450G= n.3478G= n.2668G= c.2482G= (p.Val828=) c.2437G= (p.Val813=) c.2392G= (p.Val798=) c.2461G= (p.Val821=) c.2446G= (p.Val816=) c.2425G= (p.Val809=) c.2419G= (p.Val807=) c.2374G= (p.Val792=) c.2365G= (p.Val789=) c.2341G= (p.Val781=) c.2335G= (p.Val779=) c.2308G= (p.Val770=) c.2302G= (p.Val768=) c.2296G= (p.Val766=) c.2245G= (p.Val749=) c.2164G= (p.Val722=) c.2308-287G= (n.2308-287G=) c.2086G= (p.Val696=) c.2208+1102G= (n.2208+1102G=) c.1306G= (p.Val436=) n.2582G= | |
17 | g.39724762G>T | CA399302914 | ERBB2 | c.2344G>T (p.Val782Phe) c.2254G>T (p.Val752Phe) c.1516G>T (p.Val506Phe) c.2299G>T (p.Val767Phe) c.*2134G>T (n.*2134G>T) c.450G>T n.3478G>T n.2668G>T c.2482G>T (p.Val828Phe) c.2437G>T (p.Val813Phe) c.2392G>T (p.Val798Phe) c.2461G>T (p.Val821Phe) c.2446G>T (p.Val816Phe) c.2425G>T (p.Val809Phe) c.2419G>T (p.Val807Phe) c.2374G>T (p.Val792Phe) c.2365G>T (p.Val789Phe) c.2341G>T (p.Val781Phe) c.2335G>T (p.Val779Phe) c.2308G>T (p.Val770Phe) c.2302G>T (p.Val768Phe) c.2296G>T (p.Val766Phe) c.2245G>T (p.Val749Phe) c.2164G>T (p.Val722Phe) c.2308-287G>T (n.2308-287G>T) c.2086G>T (p.Val696Phe) c.2208+1102G>T (n.2208+1102G>T) c.1306G>T (p.Val436Phe) n.2582G>T | dbSNP |
17 | g.39724763T>A | CA399302917 | ERBB2 | c.2345T>A (p.Val782Asp) c.2255T>A (p.Val752Asp) c.1517T>A (p.Val506Asp) c.2300T>A (p.Val767Asp) c.*2135T>A (n.*2135T>A) c.451T>A n.3479T>A n.2669T>A c.2483T>A (p.Val828Asp) c.2438T>A (p.Val813Asp) c.2393T>A (p.Val798Asp) c.2462T>A (p.Val821Asp) c.2447T>A (p.Val816Asp) c.2426T>A (p.Val809Asp) c.2420T>A (p.Val807Asp) c.2375T>A (p.Val792Asp) c.2366T>A (p.Val789Asp) c.2342T>A (p.Val781Asp) c.2336T>A (p.Val779Asp) c.2309T>A (p.Val770Asp) c.2303T>A (p.Val768Asp) c.2297T>A (p.Val766Asp) c.2246T>A (p.Val749Asp) c.2165T>A (p.Val722Asp) c.2308-286T>A (n.2308-286T>A) c.2087T>A (p.Val696Asp) c.2208+1103T>A (n.2208+1103T>A) c.1307T>A (p.Val436Asp) n.2583T>A | dbSNP |
17 | g.39724763T>C | CA399302918 | ERBB2 | c.2345T>C (p.Val782Ala) c.2255T>C (p.Val752Ala) c.1517T>C (p.Val506Ala) c.2300T>C (p.Val767Ala) c.*2135T>C (n.*2135T>C) c.451T>C n.3479T>C n.2669T>C c.2483T>C (p.Val828Ala) c.2438T>C (p.Val813Ala) c.2393T>C (p.Val798Ala) c.2462T>C (p.Val821Ala) c.2447T>C (p.Val816Ala) c.2426T>C (p.Val809Ala) c.2420T>C (p.Val807Ala) c.2375T>C (p.Val792Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) c.2336T>C (p.Val779Ala) c.2309T>C (p.Val770Ala) c.2303T>C (p.Val768Ala) c.2297T>C (p.Val766Ala) c.2246T>C (p.Val749Ala) c.2165T>C (p.Val722Ala) c.2308-286T>C (n.2308-286T>C) c.2087T>C (p.Val696Ala) c.2208+1103T>C (n.2208+1103T>C) c.1307T>C (p.Val436Ala) n.2583T>C | dbSNP |
17 | g.39724763T>G | CA399302919 | ERBB2 | c.2345T>G (p.Val782Gly) c.2255T>G (p.Val752Gly) c.1517T>G (p.Val506Gly) c.2300T>G (p.Val767Gly) c.*2135T>G (n.*2135T>G) c.451T>G n.3479T>G n.2669T>G c.2483T>G (p.Val828Gly) c.2438T>G (p.Val813Gly) c.2393T>G (p.Val798Gly) c.2462T>G (p.Val821Gly) c.2447T>G (p.Val816Gly) c.2426T>G (p.Val809Gly) c.2420T>G (p.Val807Gly) c.2375T>G (p.Val792Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) c.2336T>G (p.Val779Gly) c.2309T>G (p.Val770Gly) c.2303T>G (p.Val768Gly) c.2297T>G (p.Val766Gly) c.2246T>G (p.Val749Gly) c.2165T>G (p.Val722Gly) c.2308-286T>G (n.2308-286T>G) c.2087T>G (p.Val696Gly) c.2208+1103T>G (n.2208+1103T>G) c.1307T>G (p.Val436Gly) n.2583T>G | dbSNP |
17 | g.39724764C>A | CA499670853 | ERBB2 | c.2346C>A (p.Val782=) c.2256C>A (p.Val752=) c.1518C>A (p.Val506=) c.2301C>A (p.Val767=) c.*2136C>A (n.*2136C>A) c.452C>A n.3480C>A n.2670C>A c.2484C>A (p.Val828=) c.2439C>A (p.Val813=) c.2394C>A (p.Val798=) c.2463C>A (p.Val821=) c.2448C>A (p.Val816=) c.2427C>A (p.Val809=) c.2421C>A (p.Val807=) c.2376C>A (p.Val792=) c.2367C>A (p.Val789=) c.2343C>A (p.Val781=) c.2337C>A (p.Val779=) c.2310C>A (p.Val770=) c.2304C>A (p.Val768=) c.2298C>A (p.Val766=) c.2247C>A (p.Val749=) c.2166C>A (p.Val722=) c.2308-285C>A (n.2308-285C>A) c.2088C>A (p.Val696=) c.2208+1104C>A (n.2208+1104C>A) c.1308C>A (p.Val436=) n.2584C>A | dbSNP |
17 | g.39724764C= | CA2259227997 | ERBB2 | c.2346C= (p.Val782=) c.2256C= (p.Val752=) c.1518C= (p.Val506=) c.2301C= (p.Val767=) c.*2136C= (n.*2136C=) c.452C= n.3480C= n.2670C= c.2484C= (p.Val828=) c.2439C= (p.Val813=) c.2394C= (p.Val798=) c.2463C= (p.Val821=) c.2448C= (p.Val816=) c.2427C= (p.Val809=) c.2421C= (p.Val807=) c.2376C= (p.Val792=) c.2367C= (p.Val789=) c.2343C= (p.Val781=) c.2337C= (p.Val779=) c.2310C= (p.Val770=) c.2304C= (p.Val768=) c.2298C= (p.Val766=) c.2247C= (p.Val749=) c.2166C= (p.Val722=) c.2308-285C= (n.2308-285C=) c.2088C= (p.Val696=) c.2208+1104C= (n.2208+1104C=) c.1308C= (p.Val436=) n.2584C= | |
17 | g.39724764C>G | CA499670854 | ERBB2 | c.2346C>G (p.Val782=) c.2256C>G (p.Val752=) c.1518C>G (p.Val506=) c.2301C>G (p.Val767=) c.*2136C>G (n.*2136C>G) c.452C>G n.3480C>G n.2670C>G c.2484C>G (p.Val828=) c.2439C>G (p.Val813=) c.2394C>G (p.Val798=) c.2463C>G (p.Val821=) c.2448C>G (p.Val816=) c.2427C>G (p.Val809=) c.2421C>G (p.Val807=) c.2376C>G (p.Val792=) c.2367C>G (p.Val789=) c.2343C>G (p.Val781=) c.2337C>G (p.Val779=) c.2310C>G (p.Val770=) c.2304C>G (p.Val768=) c.2298C>G (p.Val766=) c.2247C>G (p.Val749=) c.2166C>G (p.Val722=) c.2308-285C>G (n.2308-285C>G) c.2088C>G (p.Val696=) c.2208+1104C>G (n.2208+1104C>G) c.1308C>G (p.Val436=) n.2584C>G | dbSNP gnomAD v4 |
17 | g.39724764C>T | CA499670855 | ERBB2 | c.2346C>T (p.Val782=) c.2256C>T (p.Val752=) c.1518C>T (p.Val506=) c.2301C>T (p.Val767=) c.*2136C>T (n.*2136C>T) c.452C>T n.3480C>T n.2670C>T c.2484C>T (p.Val828=) c.2439C>T (p.Val813=) c.2394C>T (p.Val798=) c.2463C>T (p.Val821=) c.2448C>T (p.Val816=) c.2427C>T (p.Val809=) c.2421C>T (p.Val807=) c.2376C>T (p.Val792=) c.2367C>T (p.Val789=) c.2343C>T (p.Val781=) c.2337C>T (p.Val779=) c.2310C>T (p.Val770=) c.2304C>T (p.Val768=) c.2298C>T (p.Val766=) c.2247C>T (p.Val749=) c.2166C>T (p.Val722=) c.2308-285C>T (n.2308-285C>T) c.2088C>T (p.Val696=) c.2208+1104C>T (n.2208+1104C>T) c.1308C>T (p.Val436=) n.2584C>T | ClinVar dbSNP gnomAD v4 |
17 | g.39724765T>A | CA399302920 | ERBB2 | c.2347T>A (p.Ser783Thr) c.2257T>A (p.Ser753Thr) c.1519T>A (p.Ser507Thr) c.2302T>A (p.Ser768Thr) c.*2137T>A (n.*2137T>A) c.453T>A n.3481T>A n.2671T>A c.2485T>A (p.Ser829Thr) c.2440T>A (p.Ser814Thr) c.2395T>A (p.Ser799Thr) c.2464T>A (p.Ser822Thr) c.2449T>A (p.Ser817Thr) c.2428T>A (p.Ser810Thr) c.2422T>A (p.Ser808Thr) c.2377T>A (p.Ser793Thr) c.2368T>A (p.Ser790Thr) c.2344T>A (p.Ser782Thr) c.2338T>A (p.Ser780Thr) c.2311T>A (p.Ser771Thr) c.2305T>A (p.Ser769Thr) c.2299T>A (p.Ser767Thr) c.2248T>A (p.Ser750Thr) c.2167T>A (p.Ser723Thr) c.2308-284T>A (n.2308-284T>A) c.2089T>A (p.Ser697Thr) c.2208+1105T>A (n.2208+1105T>A) c.1309T>A (p.Ser437Thr) n.2585T>A | |
17 | g.39724765T>C | CA399302922 | ERBB2 | c.2347T>C (p.Ser783Pro) c.2257T>C (p.Ser753Pro) c.1519T>C (p.Ser507Pro) c.2302T>C (p.Ser768Pro) c.*2137T>C (n.*2137T>C) c.453T>C n.3481T>C n.2671T>C c.2485T>C (p.Ser829Pro) c.2440T>C (p.Ser814Pro) c.2395T>C (p.Ser799Pro) c.2464T>C (p.Ser822Pro) c.2449T>C (p.Ser817Pro) c.2428T>C (p.Ser810Pro) c.2422T>C (p.Ser808Pro) c.2377T>C (p.Ser793Pro) c.2368T>C (p.Ser790Pro) c.2344T>C (p.Ser782Pro) c.2338T>C (p.Ser780Pro) c.2311T>C (p.Ser771Pro) c.2305T>C (p.Ser769Pro) c.2299T>C (p.Ser767Pro) c.2248T>C (p.Ser750Pro) c.2167T>C (p.Ser723Pro) c.2308-284T>C (n.2308-284T>C) c.2089T>C (p.Ser697Pro) c.2208+1105T>C (n.2208+1105T>C) c.1309T>C (p.Ser437Pro) n.2585T>C | |
17 | g.39724765T>G | CA399302925 | ERBB2 | c.2347T>G (p.Ser783Ala) c.2257T>G (p.Ser753Ala) c.1519T>G (p.Ser507Ala) c.2302T>G (p.Ser768Ala) c.*2137T>G (n.*2137T>G) c.453T>G n.3481T>G n.2671T>G c.2485T>G (p.Ser829Ala) c.2440T>G (p.Ser814Ala) c.2395T>G (p.Ser799Ala) c.2464T>G (p.Ser822Ala) c.2449T>G (p.Ser817Ala) c.2428T>G (p.Ser810Ala) c.2422T>G (p.Ser808Ala) c.2377T>G (p.Ser793Ala) c.2368T>G (p.Ser790Ala) c.2344T>G (p.Ser782Ala) c.2338T>G (p.Ser780Ala) c.2311T>G (p.Ser771Ala) c.2305T>G (p.Ser769Ala) c.2299T>G (p.Ser767Ala) c.2248T>G (p.Ser750Ala) c.2167T>G (p.Ser723Ala) c.2308-284T>G (n.2308-284T>G) c.2089T>G (p.Ser697Ala) c.2208+1105T>G (n.2208+1105T>G) c.1309T>G (p.Ser437Ala) n.2585T>G | |
17 | g.39724766C>A | CA399302928 | ERBB2 | c.2348C>A (p.Ser783Tyr) c.2258C>A (p.Ser753Tyr) c.1520C>A (p.Ser507Tyr) c.2303C>A (p.Ser768Tyr) c.*2138C>A (n.*2138C>A) c.454C>A n.3482C>A n.2672C>A c.2486C>A (p.Ser829Tyr) c.2441C>A (p.Ser814Tyr) c.2396C>A (p.Ser799Tyr) c.2465C>A (p.Ser822Tyr) c.2450C>A (p.Ser817Tyr) c.2429C>A (p.Ser810Tyr) c.2423C>A (p.Ser808Tyr) c.2378C>A (p.Ser793Tyr) c.2369C>A (p.Ser790Tyr) c.2345C>A (p.Ser782Tyr) c.2339C>A (p.Ser780Tyr) c.2312C>A (p.Ser771Tyr) c.2306C>A (p.Ser769Tyr) c.2300C>A (p.Ser767Tyr) c.2249C>A (p.Ser750Tyr) c.2168C>A (p.Ser723Tyr) c.2308-283C>A (n.2308-283C>A) c.2090C>A (p.Ser697Tyr) c.2208+1106C>A (n.2208+1106C>A) c.1310C>A (p.Ser437Tyr) n.2586C>A | dbSNP |
17 | g.39724766C>G | CA399302930 | ERBB2 | c.2348C>G (p.Ser783Cys) c.2258C>G (p.Ser753Cys) c.1520C>G (p.Ser507Cys) c.2303C>G (p.Ser768Cys) c.*2138C>G (n.*2138C>G) c.454C>G n.3482C>G n.2672C>G c.2486C>G (p.Ser829Cys) c.2441C>G (p.Ser814Cys) c.2396C>G (p.Ser799Cys) c.2465C>G (p.Ser822Cys) c.2450C>G (p.Ser817Cys) c.2429C>G (p.Ser810Cys) c.2423C>G (p.Ser808Cys) c.2378C>G (p.Ser793Cys) c.2369C>G (p.Ser790Cys) c.2345C>G (p.Ser782Cys) c.2339C>G (p.Ser780Cys) c.2312C>G (p.Ser771Cys) c.2306C>G (p.Ser769Cys) c.2300C>G (p.Ser767Cys) c.2249C>G (p.Ser750Cys) c.2168C>G (p.Ser723Cys) c.2308-283C>G (n.2308-283C>G) c.2090C>G (p.Ser697Cys) c.2208+1106C>G (n.2208+1106C>G) c.1310C>G (p.Ser437Cys) n.2586C>G | dbSNP |
17 | g.39724766C>T | CA399302937 | ERBB2 | c.2348C>T (p.Ser783Phe) c.2258C>T (p.Ser753Phe) c.1520C>T (p.Ser507Phe) c.2303C>T (p.Ser768Phe) c.*2138C>T (n.*2138C>T) c.454C>T n.3482C>T n.2672C>T c.2486C>T (p.Ser829Phe) c.2441C>T (p.Ser814Phe) c.2396C>T (p.Ser799Phe) c.2465C>T (p.Ser822Phe) c.2450C>T (p.Ser817Phe) c.2429C>T (p.Ser810Phe) c.2423C>T (p.Ser808Phe) c.2378C>T (p.Ser793Phe) c.2369C>T (p.Ser790Phe) c.2345C>T (p.Ser782Phe) c.2339C>T (p.Ser780Phe) c.2312C>T (p.Ser771Phe) c.2306C>T (p.Ser769Phe) c.2300C>T (p.Ser767Phe) c.2249C>T (p.Ser750Phe) c.2168C>T (p.Ser723Phe) c.2308-283C>T (n.2308-283C>T) c.2090C>T (p.Ser697Phe) c.2208+1106C>T (n.2208+1106C>T) c.1310C>T (p.Ser437Phe) n.2586C>T | dbSNP |
17 | g.39724767C>A | CA499670856 | ERBB2 | c.2349C>A (p.Ser783=) c.2259C>A (p.Ser753=) c.1521C>A (p.Ser507=) c.2304C>A (p.Ser768=) c.*2139C>A (n.*2139C>A) c.455C>A n.3483C>A n.2673C>A c.2487C>A (p.Ser829=) c.2442C>A (p.Ser814=) c.2397C>A (p.Ser799=) c.2466C>A (p.Ser822=) c.2451C>A (p.Ser817=) c.2430C>A (p.Ser810=) c.2424C>A (p.Ser808=) c.2379C>A (p.Ser793=) c.2370C>A (p.Ser790=) c.2346C>A (p.Ser782=) c.2340C>A (p.Ser780=) c.2313C>A (p.Ser771=) c.2307C>A (p.Ser769=) c.2301C>A (p.Ser767=) c.2250C>A (p.Ser750=) c.2169C>A (p.Ser723=) c.2308-282C>A (n.2308-282C>A) c.2091C>A (p.Ser697=) c.2208+1107C>A (n.2208+1107C>A) c.1311C>A (p.Ser437=) n.2587C>A | dbSNP |
17 | g.39724767C= | CA2259227998 | ERBB2 | c.2349C= (p.Ser783=) c.2259C= (p.Ser753=) c.1521C= (p.Ser507=) c.2304C= (p.Ser768=) c.*2139C= (n.*2139C=) c.455C= n.3483C= n.2673C= c.2487C= (p.Ser829=) c.2442C= (p.Ser814=) c.2397C= (p.Ser799=) c.2466C= (p.Ser822=) c.2451C= (p.Ser817=) c.2430C= (p.Ser810=) c.2424C= (p.Ser808=) c.2379C= (p.Ser793=) c.2370C= (p.Ser790=) c.2346C= (p.Ser782=) c.2340C= (p.Ser780=) c.2313C= (p.Ser771=) c.2307C= (p.Ser769=) c.2301C= (p.Ser767=) c.2250C= (p.Ser750=) c.2169C= (p.Ser723=) c.2308-282C= (n.2308-282C=) c.2091C= (p.Ser697=) c.2208+1107C= (n.2208+1107C=) c.1311C= (p.Ser437=) n.2587C= | |
17 | g.39724767C>G | CA499670857 | ERBB2 | c.2349C>G (p.Ser783=) c.2259C>G (p.Ser753=) c.1521C>G (p.Ser507=) c.2304C>G (p.Ser768=) c.*2139C>G (n.*2139C>G) c.455C>G n.3483C>G n.2673C>G c.2487C>G (p.Ser829=) c.2442C>G (p.Ser814=) c.2397C>G (p.Ser799=) c.2466C>G (p.Ser822=) c.2451C>G (p.Ser817=) c.2430C>G (p.Ser810=) c.2424C>G (p.Ser808=) c.2379C>G (p.Ser793=) c.2370C>G (p.Ser790=) c.2346C>G (p.Ser782=) c.2340C>G (p.Ser780=) c.2313C>G (p.Ser771=) c.2307C>G (p.Ser769=) c.2301C>G (p.Ser767=) c.2250C>G (p.Ser750=) c.2169C>G (p.Ser723=) c.2308-282C>G (n.2308-282C>G) c.2091C>G (p.Ser697=) c.2208+1107C>G (n.2208+1107C>G) c.1311C>G (p.Ser437=) n.2587C>G | dbSNP |
17 | g.39724767C>T | CA8534285 | ERBB2 | c.2349C>T (p.Ser783=) c.2259C>T (p.Ser753=) c.1521C>T (p.Ser507=) c.2304C>T (p.Ser768=) c.*2139C>T (n.*2139C>T) c.455C>T n.3483C>T n.2673C>T c.2487C>T (p.Ser829=) c.2442C>T (p.Ser814=) c.2397C>T (p.Ser799=) c.2466C>T (p.Ser822=) c.2451C>T (p.Ser817=) c.2430C>T (p.Ser810=) c.2424C>T (p.Ser808=) c.2379C>T (p.Ser793=) c.2370C>T (p.Ser790=) c.2346C>T (p.Ser782=) c.2340C>T (p.Ser780=) c.2313C>T (p.Ser771=) c.2307C>T (p.Ser769=) c.2301C>T (p.Ser767=) c.2250C>T (p.Ser750=) c.2169C>T (p.Ser723=) c.2308-282C>T (n.2308-282C>T) c.2091C>T (p.Ser697=) c.2208+1107C>T (n.2208+1107C>T) c.1311C>T (p.Ser437=) n.2587C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724768C>A | CA399302945 | ERBB2 | c.2350C>A (p.Arg784Ser) c.2260C>A (p.Arg754Ser) c.1522C>A (p.Arg508Ser) c.2305C>A (p.Arg769Ser) c.*2140C>A (n.*2140C>A) c.456C>A n.3484C>A n.2674C>A c.2488C>A (p.Arg830Ser) c.2443C>A (p.Arg815Ser) c.2398C>A (p.Arg800Ser) c.2467C>A (p.Arg823Ser) c.2452C>A (p.Arg818Ser) c.2431C>A (p.Arg811Ser) c.2425C>A (p.Arg809Ser) c.2380C>A (p.Arg794Ser) c.2371C>A (p.Arg791Ser) c.2347C>A (p.Arg783Ser) c.2341C>A (p.Arg781Ser) c.2314C>A (p.Arg772Ser) c.2308C>A (p.Arg770Ser) c.2302C>A (p.Arg768Ser) c.2251C>A (p.Arg751Ser) c.2170C>A (p.Arg724Ser) c.2308-281C>A (n.2308-281C>A) c.2092C>A (p.Arg698Ser) c.2208+1108C>A (n.2208+1108C>A) c.1312C>A (p.Arg438Ser) n.2588C>A | dbSNP COSMIC |
17 | g.39724768C= | CA2259227999 | ERBB2 | c.2350C= (p.Arg784=) c.2260C= (p.Arg754=) c.1522C= (p.Arg508=) c.2305C= (p.Arg769=) c.*2140C= (n.*2140C=) c.456C= n.3484C= n.2674C= c.2488C= (p.Arg830=) c.2443C= (p.Arg815=) c.2398C= (p.Arg800=) c.2467C= (p.Arg823=) c.2452C= (p.Arg818=) c.2431C= (p.Arg811=) c.2425C= (p.Arg809=) c.2380C= (p.Arg794=) c.2371C= (p.Arg791=) c.2347C= (p.Arg783=) c.2341C= (p.Arg781=) c.2314C= (p.Arg772=) c.2308C= (p.Arg770=) c.2302C= (p.Arg768=) c.2251C= (p.Arg751=) c.2170C= (p.Arg724=) c.2308-281C= (n.2308-281C=) c.2092C= (p.Arg698=) c.2208+1108C= (n.2208+1108C=) c.1312C= (p.Arg438=) n.2588C= | |
17 | g.39724768C>G | CA399302948 | ERBB2 | c.2350C>G (p.Arg784Gly) c.2260C>G (p.Arg754Gly) c.1522C>G (p.Arg508Gly) c.2305C>G (p.Arg769Gly) c.*2140C>G (n.*2140C>G) c.456C>G n.3484C>G n.2674C>G c.2488C>G (p.Arg830Gly) c.2443C>G (p.Arg815Gly) c.2398C>G (p.Arg800Gly) c.2467C>G (p.Arg823Gly) c.2452C>G (p.Arg818Gly) c.2431C>G (p.Arg811Gly) c.2425C>G (p.Arg809Gly) c.2380C>G (p.Arg794Gly) c.2371C>G (p.Arg791Gly) c.2347C>G (p.Arg783Gly) c.2341C>G (p.Arg781Gly) c.2314C>G (p.Arg772Gly) c.2308C>G (p.Arg770Gly) c.2302C>G (p.Arg768Gly) c.2251C>G (p.Arg751Gly) c.2170C>G (p.Arg724Gly) c.2308-281C>G (n.2308-281C>G) c.2092C>G (p.Arg698Gly) c.2208+1108C>G (n.2208+1108C>G) c.1312C>G (p.Arg438Gly) n.2588C>G | dbSNP |
17 | g.39724768C>T | CA290440546 | ERBB2 | c.2350C>T (p.Arg784Cys) c.2260C>T (p.Arg754Cys) c.1522C>T (p.Arg508Cys) c.2305C>T (p.Arg769Cys) c.*2140C>T (n.*2140C>T) c.456C>T n.3484C>T n.2674C>T c.2488C>T (p.Arg830Cys) c.2443C>T (p.Arg815Cys) c.2398C>T (p.Arg800Cys) c.2467C>T (p.Arg823Cys) c.2452C>T (p.Arg818Cys) c.2431C>T (p.Arg811Cys) c.2425C>T (p.Arg809Cys) c.2380C>T (p.Arg794Cys) c.2371C>T (p.Arg791Cys) c.2347C>T (p.Arg783Cys) c.2341C>T (p.Arg781Cys) c.2314C>T (p.Arg772Cys) c.2308C>T (p.Arg770Cys) c.2302C>T (p.Arg768Cys) c.2251C>T (p.Arg751Cys) c.2170C>T (p.Arg724Cys) c.2308-281C>T (n.2308-281C>T) c.2092C>T (p.Arg698Cys) c.2208+1108C>T (n.2208+1108C>T) c.1312C>T (p.Arg438Cys) n.2588C>T | dbSNP gnomAD v4 COSMIC |
17 | g.39724769G>A | CA8534286 | ERBB2 | c.2351G>A (p.Arg784His) c.2261G>A (p.Arg754His) c.1523G>A (p.Arg508His) c.2306G>A (p.Arg769His) c.*2141G>A (n.*2141G>A) c.457G>A n.3485G>A n.2675G>A c.2489G>A (p.Arg830His) c.2444G>A (p.Arg815His) c.2399G>A (p.Arg800His) c.2468G>A (p.Arg823His) c.2453G>A (p.Arg818His) c.2432G>A (p.Arg811His) c.2426G>A (p.Arg809His) c.2381G>A (p.Arg794His) c.2372G>A (p.Arg791His) c.2348G>A (p.Arg783His) c.2342G>A (p.Arg781His) c.2315G>A (p.Arg772His) c.2309G>A (p.Arg770His) c.2303G>A (p.Arg768His) c.2252G>A (p.Arg751His) c.2171G>A (p.Arg724His) c.2308-280G>A (n.2308-280G>A) c.2093G>A (p.Arg698His) c.2208+1109G>A (n.2208+1109G>A) c.1313G>A (p.Arg438His) n.2589G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.39724769G>C | CA399302955 | ERBB2 | c.2351G>C (p.Arg784Pro) c.2261G>C (p.Arg754Pro) c.1523G>C (p.Arg508Pro) c.2306G>C (p.Arg769Pro) c.*2141G>C (n.*2141G>C) c.457G>C n.3485G>C n.2675G>C c.2489G>C (p.Arg830Pro) c.2444G>C (p.Arg815Pro) c.2399G>C (p.Arg800Pro) c.2468G>C (p.Arg823Pro) c.2453G>C (p.Arg818Pro) c.2432G>C (p.Arg811Pro) c.2426G>C (p.Arg809Pro) c.2381G>C (p.Arg794Pro) c.2372G>C (p.Arg791Pro) c.2348G>C (p.Arg783Pro) c.2342G>C (p.Arg781Pro) c.2315G>C (p.Arg772Pro) c.2309G>C (p.Arg770Pro) c.2303G>C (p.Arg768Pro) c.2252G>C (p.Arg751Pro) c.2171G>C (p.Arg724Pro) c.2308-280G>C (n.2308-280G>C) c.2093G>C (p.Arg698Pro) c.2208+1109G>C (n.2208+1109G>C) c.1313G>C (p.Arg438Pro) n.2589G>C | dbSNP |
17 | g.39724769G= | CA2259228000 | ERBB2 | c.2351G= (p.Arg784=) c.2261G= (p.Arg754=) c.1523G= (p.Arg508=) c.2306G= (p.Arg769=) c.*2141G= (n.*2141G=) c.457G= n.3485G= n.2675G= c.2489G= (p.Arg830=) c.2444G= (p.Arg815=) c.2399G= (p.Arg800=) c.2468G= (p.Arg823=) c.2453G= (p.Arg818=) c.2432G= (p.Arg811=) c.2426G= (p.Arg809=) c.2381G= (p.Arg794=) c.2372G= (p.Arg791=) c.2348G= (p.Arg783=) c.2342G= (p.Arg781=) c.2315G= (p.Arg772=) c.2309G= (p.Arg770=) c.2303G= (p.Arg768=) c.2252G= (p.Arg751=) c.2171G= (p.Arg724=) c.2308-280G= (n.2308-280G=) c.2093G= (p.Arg698=) c.2208+1109G= (n.2208+1109G=) c.1313G= (p.Arg438=) n.2589G= | |
17 | g.39724769G>T | CA399302958 | ERBB2 | c.2351G>T (p.Arg784Leu) c.2261G>T (p.Arg754Leu) c.1523G>T (p.Arg508Leu) c.2306G>T (p.Arg769Leu) c.*2141G>T (n.*2141G>T) c.457G>T n.3485G>T n.2675G>T c.2489G>T (p.Arg830Leu) c.2444G>T (p.Arg815Leu) c.2399G>T (p.Arg800Leu) c.2468G>T (p.Arg823Leu) c.2453G>T (p.Arg818Leu) c.2432G>T (p.Arg811Leu) c.2426G>T (p.Arg809Leu) c.2381G>T (p.Arg794Leu) c.2372G>T (p.Arg791Leu) c.2348G>T (p.Arg783Leu) c.2342G>T (p.Arg781Leu) c.2315G>T (p.Arg772Leu) c.2309G>T (p.Arg770Leu) c.2303G>T (p.Arg768Leu) c.2252G>T (p.Arg751Leu) c.2171G>T (p.Arg724Leu) c.2308-280G>T (n.2308-280G>T) c.2093G>T (p.Arg698Leu) c.2208+1109G>T (n.2208+1109G>T) c.1313G>T (p.Arg438Leu) n.2589G>T | dbSNP |
17 | g.39724770C>A | CA499670858 | ERBB2 | c.2352C>A (p.Arg784=) c.2262C>A (p.Arg754=) c.1524C>A (p.Arg508=) c.2307C>A (p.Arg769=) c.*2142C>A (n.*2142C>A) c.458C>A n.3486C>A n.2676C>A c.2490C>A (p.Arg830=) c.2445C>A (p.Arg815=) c.2400C>A (p.Arg800=) c.2469C>A (p.Arg823=) c.2454C>A (p.Arg818=) c.2433C>A (p.Arg811=) c.2427C>A (p.Arg809=) c.2382C>A (p.Arg794=) c.2373C>A (p.Arg791=) c.2349C>A (p.Arg783=) c.2343C>A (p.Arg781=) c.2316C>A (p.Arg772=) c.2310C>A (p.Arg770=) c.2304C>A (p.Arg768=) c.2253C>A (p.Arg751=) c.2172C>A (p.Arg724=) c.2308-279C>A (n.2308-279C>A) c.2094C>A (p.Arg698=) c.2208+1110C>A (n.2208+1110C>A) c.1314C>A (p.Arg438=) n.2590C>A | dbSNP |
17 | g.39724770C>G | CA499670859 | ERBB2 | c.2352C>G (p.Arg784=) c.2262C>G (p.Arg754=) c.1524C>G (p.Arg508=) c.2307C>G (p.Arg769=) c.*2142C>G (n.*2142C>G) c.458C>G n.3486C>G n.2676C>G c.2490C>G (p.Arg830=) c.2445C>G (p.Arg815=) c.2400C>G (p.Arg800=) c.2469C>G (p.Arg823=) c.2454C>G (p.Arg818=) c.2433C>G (p.Arg811=) c.2427C>G (p.Arg809=) c.2382C>G (p.Arg794=) c.2373C>G (p.Arg791=) c.2349C>G (p.Arg783=) c.2343C>G (p.Arg781=) c.2316C>G (p.Arg772=) c.2310C>G (p.Arg770=) c.2304C>G (p.Arg768=) c.2253C>G (p.Arg751=) c.2172C>G (p.Arg724=) c.2308-279C>G (n.2308-279C>G) c.2094C>G (p.Arg698=) c.2208+1110C>G (n.2208+1110C>G) c.1314C>G (p.Arg438=) n.2590C>G | dbSNP |
17 | g.39724770C>T | CA499670860 | ERBB2 | c.2352C>T (p.Arg784=) c.2262C>T (p.Arg754=) c.1524C>T (p.Arg508=) c.2307C>T (p.Arg769=) c.*2142C>T (n.*2142C>T) c.458C>T n.3486C>T n.2676C>T c.2490C>T (p.Arg830=) c.2445C>T (p.Arg815=) c.2400C>T (p.Arg800=) c.2469C>T (p.Arg823=) c.2454C>T (p.Arg818=) c.2433C>T (p.Arg811=) c.2427C>T (p.Arg809=) c.2382C>T (p.Arg794=) c.2373C>T (p.Arg791=) c.2349C>T (p.Arg783=) c.2343C>T (p.Arg781=) c.2316C>T (p.Arg772=) c.2310C>T (p.Arg770=) c.2304C>T (p.Arg768=) c.2253C>T (p.Arg751=) c.2172C>T (p.Arg724=) c.2308-279C>T (n.2308-279C>T) c.2094C>T (p.Arg698=) c.2208+1110C>T (n.2208+1110C>T) c.1314C>T (p.Arg438=) n.2590C>T | dbSNP |
17 | g.39724771C>A | CA399302961 | ERBB2 | c.2353C>A (p.Leu785Ile) c.2263C>A (p.Leu755Ile) c.1525C>A (p.Leu509Ile) c.2308C>A (p.Leu770Ile) c.*2143C>A (n.*2143C>A) c.459C>A n.3487C>A n.2677C>A c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2401C>A (p.Leu801Ile) c.2470C>A (p.Leu824Ile) c.2455C>A (p.Leu819Ile) c.2434C>A (p.Leu812Ile) c.2428C>A (p.Leu810Ile) c.2383C>A (p.Leu795Ile) c.2374C>A (p.Leu792Ile) c.2350C>A (p.Leu784Ile) c.2344C>A (p.Leu782Ile) c.2317C>A (p.Leu773Ile) c.2311C>A (p.Leu771Ile) c.2305C>A (p.Leu769Ile) c.2254C>A (p.Leu752Ile) c.2173C>A (p.Leu725Ile) c.2308-278C>A (n.2308-278C>A) c.2095C>A (p.Leu699Ile) c.2208+1111C>A (n.2208+1111C>A) c.1315C>A (p.Leu439Ile) n.2591C>A | |
17 | g.39724771C>G | CA399302964 | ERBB2 | c.2353C>G (p.Leu785Val) c.2263C>G (p.Leu755Val) c.1525C>G (p.Leu509Val) c.2308C>G (p.Leu770Val) c.*2143C>G (n.*2143C>G) c.459C>G n.3487C>G n.2677C>G c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2401C>G (p.Leu801Val) c.2470C>G (p.Leu824Val) c.2455C>G (p.Leu819Val) c.2434C>G (p.Leu812Val) c.2428C>G (p.Leu810Val) c.2383C>G (p.Leu795Val) c.2374C>G (p.Leu792Val) c.2350C>G (p.Leu784Val) c.2344C>G (p.Leu782Val) c.2317C>G (p.Leu773Val) c.2311C>G (p.Leu771Val) c.2305C>G (p.Leu769Val) c.2254C>G (p.Leu752Val) c.2173C>G (p.Leu725Val) c.2308-278C>G (n.2308-278C>G) c.2095C>G (p.Leu699Val) c.2208+1111C>G (n.2208+1111C>G) c.1315C>G (p.Leu439Val) n.2591C>G | dbSNP |
17 | g.39724771C>T | CA399302967 | ERBB2 | c.2353C>T (p.Leu785Phe) c.2263C>T (p.Leu755Phe) c.1525C>T (p.Leu509Phe) c.2308C>T (p.Leu770Phe) c.*2143C>T (n.*2143C>T) c.459C>T n.3487C>T n.2677C>T c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2401C>T (p.Leu801Phe) c.2470C>T (p.Leu824Phe) c.2455C>T (p.Leu819Phe) c.2434C>T (p.Leu812Phe) c.2428C>T (p.Leu810Phe) c.2383C>T (p.Leu795Phe) c.2374C>T (p.Leu792Phe) c.2350C>T (p.Leu784Phe) c.2344C>T (p.Leu782Phe) c.2317C>T (p.Leu773Phe) c.2311C>T (p.Leu771Phe) c.2305C>T (p.Leu769Phe) c.2254C>T (p.Leu752Phe) c.2173C>T (p.Leu725Phe) c.2308-278C>T (n.2308-278C>T) c.2095C>T (p.Leu699Phe) c.2208+1111C>T (n.2208+1111C>T) c.1315C>T (p.Leu439Phe) n.2591C>T | dbSNP |
17 | g.39724772T>A | CA399302973 | ERBB2 | c.2354T>A (p.Leu785His) c.2264T>A (p.Leu755His) c.1526T>A (p.Leu509His) c.2309T>A (p.Leu770His) c.*2144T>A (n.*2144T>A) c.460T>A n.3488T>A n.2678T>A c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2402T>A (p.Leu801His) c.2471T>A (p.Leu824His) c.2456T>A (p.Leu819His) c.2435T>A (p.Leu812His) c.2429T>A (p.Leu810His) c.2384T>A (p.Leu795His) c.2375T>A (p.Leu792His) c.2351T>A (p.Leu784His) c.2345T>A (p.Leu782His) c.2318T>A (p.Leu773His) c.2312T>A (p.Leu771His) c.2306T>A (p.Leu769His) c.2255T>A (p.Leu752His) c.2174T>A (p.Leu725His) c.2308-277T>A (n.2308-277T>A) c.2096T>A (p.Leu699His) c.2208+1112T>A (n.2208+1112T>A) c.1316T>A (p.Leu439His) n.2592T>A | dbSNP |
17 | g.39724772T>C | CA16602776 | ERBB2 | c.2354T>C (p.Leu785Pro) c.2264T>C (p.Leu755Pro) c.1526T>C (p.Leu509Pro) c.2309T>C (p.Leu770Pro) c.*2144T>C (n.*2144T>C) c.460T>C n.3488T>C n.2678T>C c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2402T>C (p.Leu801Pro) c.2471T>C (p.Leu824Pro) c.2456T>C (p.Leu819Pro) c.2435T>C (p.Leu812Pro) c.2429T>C (p.Leu810Pro) c.2384T>C (p.Leu795Pro) c.2375T>C (p.Leu792Pro) c.2351T>C (p.Leu784Pro) c.2345T>C (p.Leu782Pro) c.2318T>C (p.Leu773Pro) c.2312T>C (p.Leu771Pro) c.2306T>C (p.Leu769Pro) c.2255T>C (p.Leu752Pro) c.2174T>C (p.Leu725Pro) c.2308-277T>C (n.2308-277T>C) c.2096T>C (p.Leu699Pro) c.2208+1112T>C (n.2208+1112T>C) c.1316T>C (p.Leu439Pro) n.2592T>C | ClinVar dbSNP |
17 | g.39724772T>G | CA399302982 | ERBB2 | c.2354T>G (p.Leu785Arg) c.2264T>G (p.Leu755Arg) c.1526T>G (p.Leu509Arg) c.2309T>G (p.Leu770Arg) c.*2144T>G (n.*2144T>G) c.460T>G n.3488T>G n.2678T>G c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2402T>G (p.Leu801Arg) c.2471T>G (p.Leu824Arg) c.2456T>G (p.Leu819Arg) c.2435T>G (p.Leu812Arg) c.2429T>G (p.Leu810Arg) c.2384T>G (p.Leu795Arg) c.2375T>G (p.Leu792Arg) c.2351T>G (p.Leu784Arg) c.2345T>G (p.Leu782Arg) c.2318T>G (p.Leu773Arg) c.2312T>G (p.Leu771Arg) c.2306T>G (p.Leu769Arg) c.2255T>G (p.Leu752Arg) c.2174T>G (p.Leu725Arg) c.2308-277T>G (n.2308-277T>G) c.2096T>G (p.Leu699Arg) c.2208+1112T>G (n.2208+1112T>G) c.1316T>G (p.Leu439Arg) n.2592T>G | dbSNP |
17 | g.39724772T= | CA2259228001 | ERBB2 | c.2354T= (p.Leu785=) c.2264T= (p.Leu755=) c.1526T= (p.Leu509=) c.2309T= (p.Leu770=) c.*2144T= (n.*2144T=) c.460T= n.3488T= n.2678T= c.2492T= (p.Leu831=) c.2447T= (p.Leu816=) c.2402T= (p.Leu801=) c.2471T= (p.Leu824=) c.2456T= (p.Leu819=) c.2435T= (p.Leu812=) c.2429T= (p.Leu810=) c.2384T= (p.Leu795=) c.2375T= (p.Leu792=) c.2351T= (p.Leu784=) c.2345T= (p.Leu782=) c.2318T= (p.Leu773=) c.2312T= (p.Leu771=) c.2306T= (p.Leu769=) c.2255T= (p.Leu752=) c.2174T= (p.Leu725=) c.2308-277T= (n.2308-277T=) c.2096T= (p.Leu699=) c.2208+1112T= (n.2208+1112T=) c.1316T= (p.Leu439=) n.2592T= | |
17 | g.39724772_39724773delinsGG | CA645578287 | ERBB2 | c.2354_2355delinsGG (p.Leu785Arg) c.2264_2265delinsGG (p.Leu755Arg) c.1526_1527delinsGG (p.Leu509Arg) c.2309_2310delinsGG (p.Leu770Arg) c.*2144_*2145delinsGG (n.*2144_*2145delinsGG) c.460_461delinsGG n.3488_3489delinsGG n.2678_2679delinsGG c.2492_2493delinsGG (p.Leu831Arg) c.2447_2448delinsGG (p.Leu816Arg) c.2402_2403delinsGG (p.Leu801Arg) c.2471_2472delinsGG (p.Leu824Arg) c.2456_2457delinsGG (p.Leu819Arg) c.2435_2436delinsGG (p.Leu812Arg) c.2429_2430delinsGG (p.Leu810Arg) c.2384_2385delinsGG (p.Leu795Arg) c.2375_2376delinsGG (p.Leu792Arg) c.2351_2352delinsGG (p.Leu784Arg) c.2345_2346delinsGG (p.Leu782Arg) c.2318_2319delinsGG (p.Leu773Arg) c.2312_2313delinsGG (p.Leu771Arg) c.2306_2307delinsGG (p.Leu769Arg) c.2255_2256delinsGG (p.Leu752Arg) c.2174_2175delinsGG (p.Leu725Arg) c.2308-277_2308-276delinsGG (n.2308-277_2308-276delinsGG) c.2096_2097delinsGG (p.Leu699Arg) c.2208+1112_2208+1113delinsGG (n.2208+1112_2208+1113delinsGG) c.1316_1317delinsGG (p.Leu439Arg) n.2592_2593delinsGG | COSMIC |
17 | g.39724773T>A | CA499670861 | ERBB2 | c.2355T>A (p.Leu785=) c.2265T>A (p.Leu755=) c.1527T>A (p.Leu509=) c.2310T>A (p.Leu770=) c.*2145T>A (n.*2145T>A) c.461T>A n.3489T>A n.2679T>A c.2493T>A (p.Leu831=) c.2448T>A (p.Leu816=) c.2403T>A (p.Leu801=) c.2472T>A (p.Leu824=) c.2457T>A (p.Leu819=) c.2436T>A (p.Leu812=) c.2430T>A (p.Leu810=) c.2385T>A (p.Leu795=) c.2376T>A (p.Leu792=) c.2352T>A (p.Leu784=) c.2346T>A (p.Leu782=) c.2319T>A (p.Leu773=) c.2313T>A (p.Leu771=) c.2307T>A (p.Leu769=) c.2256T>A (p.Leu752=) c.2175T>A (p.Leu725=) c.2308-276T>A (n.2308-276T>A) c.2097T>A (p.Leu699=) c.2208+1113T>A (n.2208+1113T>A) c.1317T>A (p.Leu439=) n.2593T>A | dbSNP |
17 | g.39724773T>C | CA499670863 | ERBB2 | c.2355T>C (p.Leu785=) c.2265T>C (p.Leu755=) c.1527T>C (p.Leu509=) c.2310T>C (p.Leu770=) c.*2145T>C (n.*2145T>C) c.461T>C n.3489T>C n.2679T>C c.2493T>C (p.Leu831=) c.2448T>C (p.Leu816=) c.2403T>C (p.Leu801=) c.2472T>C (p.Leu824=) c.2457T>C (p.Leu819=) c.2436T>C (p.Leu812=) c.2430T>C (p.Leu810=) c.2385T>C (p.Leu795=) c.2376T>C (p.Leu792=) c.2352T>C (p.Leu784=) c.2346T>C (p.Leu782=) c.2319T>C (p.Leu773=) c.2313T>C (p.Leu771=) c.2307T>C (p.Leu769=) c.2256T>C (p.Leu752=) c.2175T>C (p.Leu725=) c.2308-276T>C (n.2308-276T>C) c.2097T>C (p.Leu699=) c.2208+1113T>C (n.2208+1113T>C) c.1317T>C (p.Leu439=) n.2593T>C | dbSNP |
17 | g.39724773T>G | CA499670862 | ERBB2 | c.2355T>G (p.Leu785=) c.2265T>G (p.Leu755=) c.1527T>G (p.Leu509=) c.2310T>G (p.Leu770=) c.*2145T>G (n.*2145T>G) c.461T>G n.3489T>G n.2679T>G c.2493T>G (p.Leu831=) c.2448T>G (p.Leu816=) c.2403T>G (p.Leu801=) c.2472T>G (p.Leu824=) c.2457T>G (p.Leu819=) c.2436T>G (p.Leu812=) c.2430T>G (p.Leu810=) c.2385T>G (p.Leu795=) c.2376T>G (p.Leu792=) c.2352T>G (p.Leu784=) c.2346T>G (p.Leu782=) c.2319T>G (p.Leu773=) c.2313T>G (p.Leu771=) c.2307T>G (p.Leu769=) c.2256T>G (p.Leu752=) c.2175T>G (p.Leu725=) c.2308-276T>G (n.2308-276T>G) c.2097T>G (p.Leu699=) c.2208+1113T>G (n.2208+1113T>G) c.1317T>G (p.Leu439=) n.2593T>G | |
17 | g.39724774C>A | CA399302987 | ERBB2 | c.2356C>A (p.Leu786Met) c.2266C>A (p.Leu756Met) c.1528C>A (p.Leu510Met) c.2311C>A (p.Leu771Met) c.*2146C>A (n.*2146C>A) c.462C>A n.3490C>A n.2680C>A c.2494C>A (p.Leu832Met) c.2449C>A (p.Leu817Met) c.2404C>A (p.Leu802Met) c.2473C>A (p.Leu825Met) c.2458C>A (p.Leu820Met) c.2437C>A (p.Leu813Met) c.2431C>A (p.Leu811Met) c.2386C>A (p.Leu796Met) c.2377C>A (p.Leu793Met) c.2353C>A (p.Leu785Met) c.2347C>A (p.Leu783Met) c.2320C>A (p.Leu774Met) c.2314C>A (p.Leu772Met) c.2308C>A (p.Leu770Met) c.2257C>A (p.Leu753Met) c.2176C>A (p.Leu726Met) c.2308-275C>A (n.2308-275C>A) c.2098C>A (p.Leu700Met) c.2208+1114C>A (n.2208+1114C>A) c.1318C>A (p.Leu440Met) n.2594C>A | |
17 | g.39724774C>G | CA399302990 | ERBB2 | c.2356C>G (p.Leu786Val) c.2266C>G (p.Leu756Val) c.1528C>G (p.Leu510Val) c.2311C>G (p.Leu771Val) c.*2146C>G (n.*2146C>G) c.462C>G n.3490C>G n.2680C>G c.2494C>G (p.Leu832Val) c.2449C>G (p.Leu817Val) c.2404C>G (p.Leu802Val) c.2473C>G (p.Leu825Val) c.2458C>G (p.Leu820Val) c.2437C>G (p.Leu813Val) c.2431C>G (p.Leu811Val) c.2386C>G (p.Leu796Val) c.2377C>G (p.Leu793Val) c.2353C>G (p.Leu785Val) c.2347C>G (p.Leu783Val) c.2320C>G (p.Leu774Val) c.2314C>G (p.Leu772Val) c.2308C>G (p.Leu770Val) c.2257C>G (p.Leu753Val) c.2176C>G (p.Leu726Val) c.2308-275C>G (n.2308-275C>G) c.2098C>G (p.Leu700Val) c.2208+1114C>G (n.2208+1114C>G) c.1318C>G (p.Leu440Val) n.2594C>G | dbSNP |
17 | g.39724774C>T | CA499670864 | ERBB2 | c.2356C>T (p.Leu786=) c.2266C>T (p.Leu756=) c.1528C>T (p.Leu510=) c.2311C>T (p.Leu771=) c.*2146C>T (n.*2146C>T) c.462C>T n.3490C>T n.2680C>T c.2494C>T (p.Leu832=) c.2449C>T (p.Leu817=) c.2404C>T (p.Leu802=) c.2473C>T (p.Leu825=) c.2458C>T (p.Leu820=) c.2437C>T (p.Leu813=) c.2431C>T (p.Leu811=) c.2386C>T (p.Leu796=) c.2377C>T (p.Leu793=) c.2353C>T (p.Leu785=) c.2347C>T (p.Leu783=) c.2320C>T (p.Leu774=) c.2314C>T (p.Leu772=) c.2308C>T (p.Leu770=) c.2257C>T (p.Leu753=) c.2176C>T (p.Leu726=) c.2308-275C>T (n.2308-275C>T) c.2098C>T (p.Leu700=) c.2208+1114C>T (n.2208+1114C>T) c.1318C>T (p.Leu440=) n.2594C>T | dbSNP |
17 | g.39724775T>A | CA399302998 | ERBB2 | c.2357T>A (p.Leu786Gln) c.2267T>A (p.Leu756Gln) c.1529T>A (p.Leu510Gln) c.2312T>A (p.Leu771Gln) c.*2147T>A (n.*2147T>A) c.463T>A n.3491T>A n.2681T>A c.2495T>A (p.Leu832Gln) c.2450T>A (p.Leu817Gln) c.2405T>A (p.Leu802Gln) c.2474T>A (p.Leu825Gln) c.2459T>A (p.Leu820Gln) c.2438T>A (p.Leu813Gln) c.2432T>A (p.Leu811Gln) c.2387T>A (p.Leu796Gln) c.2378T>A (p.Leu793Gln) c.2354T>A (p.Leu785Gln) c.2348T>A (p.Leu783Gln) c.2321T>A (p.Leu774Gln) c.2315T>A (p.Leu772Gln) c.2309T>A (p.Leu770Gln) c.2258T>A (p.Leu753Gln) c.2177T>A (p.Leu726Gln) c.2308-274T>A (n.2308-274T>A) c.2099T>A (p.Leu700Gln) c.2208+1115T>A (n.2208+1115T>A) c.1319T>A (p.Leu440Gln) n.2595T>A | |
17 | g.39724775T>C | CA399302996 | ERBB2 | c.2357T>C (p.Leu786Pro) c.2267T>C (p.Leu756Pro) c.1529T>C (p.Leu510Pro) c.2312T>C (p.Leu771Pro) c.*2147T>C (n.*2147T>C) c.463T>C n.3491T>C n.2681T>C c.2495T>C (p.Leu832Pro) c.2450T>C (p.Leu817Pro) c.2405T>C (p.Leu802Pro) c.2474T>C (p.Leu825Pro) c.2459T>C (p.Leu820Pro) c.2438T>C (p.Leu813Pro) c.2432T>C (p.Leu811Pro) c.2387T>C (p.Leu796Pro) c.2378T>C (p.Leu793Pro) c.2354T>C (p.Leu785Pro) c.2348T>C (p.Leu783Pro) c.2321T>C (p.Leu774Pro) c.2315T>C (p.Leu772Pro) c.2309T>C (p.Leu770Pro) c.2258T>C (p.Leu753Pro) c.2177T>C (p.Leu726Pro) c.2308-274T>C (n.2308-274T>C) c.2099T>C (p.Leu700Pro) c.2208+1115T>C (n.2208+1115T>C) c.1319T>C (p.Leu440Pro) n.2595T>C | |
17 | g.39724775T>G | CA399302993 | ERBB2 | c.2357T>G (p.Leu786Arg) c.2267T>G (p.Leu756Arg) c.1529T>G (p.Leu510Arg) c.2312T>G (p.Leu771Arg) c.*2147T>G (n.*2147T>G) c.463T>G n.3491T>G n.2681T>G c.2495T>G (p.Leu832Arg) c.2450T>G (p.Leu817Arg) c.2405T>G (p.Leu802Arg) c.2474T>G (p.Leu825Arg) c.2459T>G (p.Leu820Arg) c.2438T>G (p.Leu813Arg) c.2432T>G (p.Leu811Arg) c.2387T>G (p.Leu796Arg) c.2378T>G (p.Leu793Arg) c.2354T>G (p.Leu785Arg) c.2348T>G (p.Leu783Arg) c.2321T>G (p.Leu774Arg) c.2315T>G (p.Leu772Arg) c.2309T>G (p.Leu770Arg) c.2258T>G (p.Leu753Arg) c.2177T>G (p.Leu726Arg) c.2308-274T>G (n.2308-274T>G) c.2099T>G (p.Leu700Arg) c.2208+1115T>G (n.2208+1115T>G) c.1319T>G (p.Leu440Arg) n.2595T>G | |
17 | g.39724775_39724776delinsTG | CA2259228002 | ERBB2 | c.2357_2358delinsTG (p.Leu786=) c.2267_2268delinsTG (p.Leu756=) c.1529_1530delinsTG (p.Leu510=) c.2312_2313delinsTG (p.Leu771=) c.*2147_*2148delinsTG (n.*2147_*2148delinsTG) c.463_464delinsTG n.3491_3492delinsTG n.2681_2682delinsTG c.2495_2496delinsTG (p.Leu832=) c.2450_2451delinsTG (p.Leu817=) c.2405_2406delinsTG (p.Leu802=) c.2474_2475delinsTG (p.Leu825=) c.2459_2460delinsTG (p.Leu820=) c.2438_2439delinsTG (p.Leu813=) c.2432_2433delinsTG (p.Leu811=) c.2387_2388delinsTG (p.Leu796=) c.2378_2379delinsTG (p.Leu793=) c.2354_2355delinsTG (p.Leu785=) c.2348_2349delinsTG (p.Leu783=) c.2321_2322delinsTG (p.Leu774=) c.2315_2316delinsTG (p.Leu772=) c.2309_2310delinsTG (p.Leu770=) c.2258_2259delinsTG (p.Leu753=) c.2177_2178delinsTG (p.Leu726=) c.2308-274_2308-273delinsTG (n.2308-274_2308-273delinsTG) c.2099_2100delinsTG (p.Leu700=) c.2208+1115_2208+1116delinsTG (n.2208+1115_2208+1116delinsTG) c.1319_1320delinsTG (p.Leu440=) n.2595_2596delinsTG | |
17 | g.39724776G>A | CA499670865 | ERBB2 | c.2358G>A (p.Leu786=) c.2268G>A (p.Leu756=) c.1530G>A (p.Leu510=) c.2313G>A (p.Leu771=) c.*2148G>A (n.*2148G>A) c.464G>A n.3492G>A n.2682G>A c.2496G>A (p.Leu832=) c.2451G>A (p.Leu817=) c.2406G>A (p.Leu802=) c.2475G>A (p.Leu825=) c.2460G>A (p.Leu820=) c.2439G>A (p.Leu813=) c.2433G>A (p.Leu811=) c.2388G>A (p.Leu796=) c.2379G>A (p.Leu793=) c.2355G>A (p.Leu785=) c.2349G>A (p.Leu783=) c.2322G>A (p.Leu774=) c.2316G>A (p.Leu772=) c.2310G>A (p.Leu770=) c.2259G>A (p.Leu753=) c.2178G>A (p.Leu726=) c.2308-273G>A (n.2308-273G>A) c.2100G>A (p.Leu700=) c.2208+1116G>A (n.2208+1116G>A) c.1320G>A (p.Leu440=) n.2596G>A | dbSNP |
17 | g.39724776G>C | CA499670866 | ERBB2 | c.2358G>C (p.Leu786=) c.2268G>C (p.Leu756=) c.1530G>C (p.Leu510=) c.2313G>C (p.Leu771=) c.*2148G>C (n.*2148G>C) c.464G>C n.3492G>C n.2682G>C c.2496G>C (p.Leu832=) c.2451G>C (p.Leu817=) c.2406G>C (p.Leu802=) c.2475G>C (p.Leu825=) c.2460G>C (p.Leu820=) c.2439G>C (p.Leu813=) c.2433G>C (p.Leu811=) c.2388G>C (p.Leu796=) c.2379G>C (p.Leu793=) c.2355G>C (p.Leu785=) c.2349G>C (p.Leu783=) c.2322G>C (p.Leu774=) c.2316G>C (p.Leu772=) c.2310G>C (p.Leu770=) c.2259G>C (p.Leu753=) c.2178G>C (p.Leu726=) c.2308-273G>C (n.2308-273G>C) c.2100G>C (p.Leu700=) c.2208+1116G>C (n.2208+1116G>C) c.1320G>C (p.Leu440=) n.2596G>C | dbSNP |
17 | g.39724776G>T | CA499670867 | ERBB2 | c.2358G>T (p.Leu786=) c.2268G>T (p.Leu756=) c.1530G>T (p.Leu510=) c.2313G>T (p.Leu771=) c.*2148G>T (n.*2148G>T) c.464G>T n.3492G>T n.2682G>T c.2496G>T (p.Leu832=) c.2451G>T (p.Leu817=) c.2406G>T (p.Leu802=) c.2475G>T (p.Leu825=) c.2460G>T (p.Leu820=) c.2439G>T (p.Leu813=) c.2433G>T (p.Leu811=) c.2388G>T (p.Leu796=) c.2379G>T (p.Leu793=) c.2355G>T (p.Leu785=) c.2349G>T (p.Leu783=) c.2322G>T (p.Leu774=) c.2316G>T (p.Leu772=) c.2310G>T (p.Leu770=) c.2259G>T (p.Leu753=) c.2178G>T (p.Leu726=) c.2308-273G>T (n.2308-273G>T) c.2100G>T (p.Leu700=) c.2208+1116G>T (n.2208+1116G>T) c.1320G>T (p.Leu440=) n.2596G>T | dbSNP |
17 | g.39724778del | CA983631270 | ERBB2 | c.2360del (p.Gly787AlafsTer4) c.2270del (p.Gly757AlafsTer4) c.1532del (p.Gly511AlafsTer4) c.2315del (p.Gly772AlafsTer4) c.*2150del (n.*2150del) c.466del n.3494del n.2684del c.2498del (p.Gly833AlafsTer4) c.2453del (p.Gly818AlafsTer4) c.2408del (p.Gly803AlafsTer4) c.2477del (p.Gly826AlafsTer4) c.2462del (p.Gly821AlafsTer4) c.2441del (p.Gly814AlafsTer4) c.2435del (p.Gly812AlafsTer4) c.2390del (p.Gly797AlafsTer4) c.2381del (p.Gly794AlafsTer4) c.2357del (p.Gly786AlafsTer4) c.2351del (p.Gly784AlafsTer4) c.2324del (p.Gly775AlafsTer4) c.2318del (p.Gly773AlafsTer4) c.2312del (p.Gly771AlafsTer4) c.2261del (p.Gly754AlafsTer4) c.2180del (p.Gly727AlafsTer4) c.2308-271del (n.2308-271del) c.2102del (p.Gly701AlafsTer4) c.2208+1118del (n.2208+1118del) c.1322del (p.Gly441AlafsTer4) n.2598del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724777G>A | CA399303001 | ERBB2 | c.2359G>A (p.Gly787Ser) c.2269G>A (p.Gly757Ser) c.1531G>A (p.Gly511Ser) c.2314G>A (p.Gly772Ser) c.*2149G>A (n.*2149G>A) c.465G>A n.3493G>A n.2683G>A c.2497G>A (p.Gly833Ser) c.2452G>A (p.Gly818Ser) c.2407G>A (p.Gly803Ser) c.2476G>A (p.Gly826Ser) c.2461G>A (p.Gly821Ser) c.2440G>A (p.Gly814Ser) c.2434G>A (p.Gly812Ser) c.2389G>A (p.Gly797Ser) c.2380G>A (p.Gly794Ser) c.2356G>A (p.Gly786Ser) c.2350G>A (p.Gly784Ser) c.2323G>A (p.Gly775Ser) c.2317G>A (p.Gly773Ser) c.2311G>A (p.Gly771Ser) c.2260G>A (p.Gly754Ser) c.2179G>A (p.Gly727Ser) c.2308-272G>A (n.2308-272G>A) c.2101G>A (p.Gly701Ser) c.2208+1117G>A (n.2208+1117G>A) c.1321G>A (p.Gly441Ser) n.2597G>A | dbSNP |
17 | g.39724777G>C | CA399303005 | ERBB2 | c.2359G>C (p.Gly787Arg) c.2269G>C (p.Gly757Arg) c.1531G>C (p.Gly511Arg) c.2314G>C (p.Gly772Arg) c.*2149G>C (n.*2149G>C) c.465G>C n.3493G>C n.2683G>C c.2497G>C (p.Gly833Arg) c.2452G>C (p.Gly818Arg) c.2407G>C (p.Gly803Arg) c.2476G>C (p.Gly826Arg) c.2461G>C (p.Gly821Arg) c.2440G>C (p.Gly814Arg) c.2434G>C (p.Gly812Arg) c.2389G>C (p.Gly797Arg) c.2380G>C (p.Gly794Arg) c.2356G>C (p.Gly786Arg) c.2350G>C (p.Gly784Arg) c.2323G>C (p.Gly775Arg) c.2317G>C (p.Gly773Arg) c.2311G>C (p.Gly771Arg) c.2260G>C (p.Gly754Arg) c.2179G>C (p.Gly727Arg) c.2308-272G>C (n.2308-272G>C) c.2101G>C (p.Gly701Arg) c.2208+1117G>C (n.2208+1117G>C) c.1321G>C (p.Gly441Arg) n.2597G>C | dbSNP |
17 | g.39724777G>T | CA399303004 | ERBB2 | c.2359G>T (p.Gly787Cys) c.2269G>T (p.Gly757Cys) c.1531G>T (p.Gly511Cys) c.2314G>T (p.Gly772Cys) c.*2149G>T (n.*2149G>T) c.465G>T n.3493G>T n.2683G>T c.2497G>T (p.Gly833Cys) c.2452G>T (p.Gly818Cys) c.2407G>T (p.Gly803Cys) c.2476G>T (p.Gly826Cys) c.2461G>T (p.Gly821Cys) c.2440G>T (p.Gly814Cys) c.2434G>T (p.Gly812Cys) c.2389G>T (p.Gly797Cys) c.2380G>T (p.Gly794Cys) c.2356G>T (p.Gly786Cys) c.2350G>T (p.Gly784Cys) c.2323G>T (p.Gly775Cys) c.2317G>T (p.Gly773Cys) c.2311G>T (p.Gly771Cys) c.2260G>T (p.Gly754Cys) c.2179G>T (p.Gly727Cys) c.2308-272G>T (n.2308-272G>T) c.2101G>T (p.Gly701Cys) c.2208+1117G>T (n.2208+1117G>T) c.1321G>T (p.Gly441Cys) n.2597G>T | dbSNP |
17 | g.39724778G>A | CA399303011 | ERBB2 | c.2360G>A (p.Gly787Asp) c.2270G>A (p.Gly757Asp) c.1532G>A (p.Gly511Asp) c.2315G>A (p.Gly772Asp) c.*2150G>A (n.*2150G>A) c.466G>A n.3494G>A n.2684G>A c.2498G>A (p.Gly833Asp) c.2453G>A (p.Gly818Asp) c.2408G>A (p.Gly803Asp) c.2477G>A (p.Gly826Asp) c.2462G>A (p.Gly821Asp) c.2441G>A (p.Gly814Asp) c.2435G>A (p.Gly812Asp) c.2390G>A (p.Gly797Asp) c.2381G>A (p.Gly794Asp) c.2357G>A (p.Gly786Asp) c.2351G>A (p.Gly784Asp) c.2324G>A (p.Gly775Asp) c.2318G>A (p.Gly773Asp) c.2312G>A (p.Gly771Asp) c.2261G>A (p.Gly754Asp) c.2180G>A (p.Gly727Asp) c.2308-271G>A (n.2308-271G>A) c.2102G>A (p.Gly701Asp) c.2208+1118G>A (n.2208+1118G>A) c.1322G>A (p.Gly441Asp) n.2598G>A | dbSNP |
17 | g.39724778G>C | CA399303026 | ERBB2 | c.2360G>C (p.Gly787Ala) c.2270G>C (p.Gly757Ala) c.1532G>C (p.Gly511Ala) c.2315G>C (p.Gly772Ala) c.*2150G>C (n.*2150G>C) c.466G>C n.3494G>C n.2684G>C c.2498G>C (p.Gly833Ala) c.2453G>C (p.Gly818Ala) c.2408G>C (p.Gly803Ala) c.2477G>C (p.Gly826Ala) c.2462G>C (p.Gly821Ala) c.2441G>C (p.Gly814Ala) c.2435G>C (p.Gly812Ala) c.2390G>C (p.Gly797Ala) c.2381G>C (p.Gly794Ala) c.2357G>C (p.Gly786Ala) c.2351G>C (p.Gly784Ala) c.2324G>C (p.Gly775Ala) c.2318G>C (p.Gly773Ala) c.2312G>C (p.Gly771Ala) c.2261G>C (p.Gly754Ala) c.2180G>C (p.Gly727Ala) c.2308-271G>C (n.2308-271G>C) c.2102G>C (p.Gly701Ala) c.2208+1118G>C (n.2208+1118G>C) c.1322G>C (p.Gly441Ala) n.2598G>C | dbSNP |
17 | g.39724778G>T | CA399303013 | ERBB2 | c.2360G>T (p.Gly787Val) c.2270G>T (p.Gly757Val) c.1532G>T (p.Gly511Val) c.2315G>T (p.Gly772Val) c.*2150G>T (n.*2150G>T) c.466G>T n.3494G>T n.2684G>T c.2498G>T (p.Gly833Val) c.2453G>T (p.Gly818Val) c.2408G>T (p.Gly803Val) c.2477G>T (p.Gly826Val) c.2462G>T (p.Gly821Val) c.2441G>T (p.Gly814Val) c.2435G>T (p.Gly812Val) c.2390G>T (p.Gly797Val) c.2381G>T (p.Gly794Val) c.2357G>T (p.Gly786Val) c.2351G>T (p.Gly784Val) c.2324G>T (p.Gly775Val) c.2318G>T (p.Gly773Val) c.2312G>T (p.Gly771Val) c.2261G>T (p.Gly754Val) c.2180G>T (p.Gly727Val) c.2308-271G>T (n.2308-271G>T) c.2102G>T (p.Gly701Val) c.2208+1118G>T (n.2208+1118G>T) c.1322G>T (p.Gly441Val) n.2598G>T | dbSNP gnomAD v4 |
17 | g.39724778_39724779del | CA2637621543 | ERBB2 | c.2360_2361del (p.Gly787AspfsTer?) c.2270_2271del (p.Gly757AspfsTer?) c.1532_1533del (p.Gly511AspfsTer?) c.2315_2316del (p.Gly772AspfsTer?) c.*2150_*2151del (n.*2150_*2151del) c.466_467del n.3494_3495del n.2684_2685del c.2498_2499del (p.Gly833AspfsTer?) c.2453_2454del (p.Gly818AspfsTer?) c.2408_2409del (p.Gly803AspfsTer?) c.2477_2478del (p.Gly826AspfsTer?) c.2462_2463del (p.Gly821AspfsTer?) c.2441_2442del (p.Gly814AspfsTer?) c.2435_2436del (p.Gly812AspfsTer?) c.2390_2391del (p.Gly797AspfsTer?) c.2381_2382del (p.Gly794AspfsTer?) c.2357_2358del (p.Gly786AspfsTer?) c.2351_2352del (p.Gly784AspfsTer?) c.2324_2325del (p.Gly775AspfsTer?) c.2318_2319del (p.Gly773AspfsTer?) c.2312_2313del (p.Gly771AspfsTer?) c.2261_2262del (p.Gly754AspfsTer?) c.2180_2181del (p.Gly727AspfsTer?) c.2308-271_2308-270del (n.2308-271_2308-270del) c.2102_2103del (p.Gly701AspfsTer?) c.2208+1118_2208+1119del (n.2208+1118_2208+1119del) c.1322_1323del (p.Gly441AspfsTer?) n.2598_2599del | gnomAD v4 |
17 | g.39724779C>A | CA499670870 | ERBB2 | c.2361C>A (p.Gly787=) c.2271C>A (p.Gly757=) c.1533C>A (p.Gly511=) c.2316C>A (p.Gly772=) c.*2151C>A (n.*2151C>A) c.467C>A n.3495C>A n.2685C>A c.2499C>A (p.Gly833=) c.2454C>A (p.Gly818=) c.2409C>A (p.Gly803=) c.2478C>A (p.Gly826=) c.2463C>A (p.Gly821=) c.2442C>A (p.Gly814=) c.2436C>A (p.Gly812=) c.2391C>A (p.Gly797=) c.2382C>A (p.Gly794=) c.2358C>A (p.Gly786=) c.2352C>A (p.Gly784=) c.2325C>A (p.Gly775=) c.2319C>A (p.Gly773=) c.2313C>A (p.Gly771=) c.2262C>A (p.Gly754=) c.2181C>A (p.Gly727=) c.2308-270C>A (n.2308-270C>A) c.2103C>A (p.Gly701=) c.2208+1119C>A (n.2208+1119C>A) c.1323C>A (p.Gly441=) n.2599C>A | dbSNP |
17 | g.39724779C= | CA2259228003 | ERBB2 | c.2361C= (p.Gly787=) c.2271C= (p.Gly757=) c.1533C= (p.Gly511=) c.2316C= (p.Gly772=) c.*2151C= (n.*2151C=) c.467C= n.3495C= n.2685C= c.2499C= (p.Gly833=) c.2454C= (p.Gly818=) c.2409C= (p.Gly803=) c.2478C= (p.Gly826=) c.2463C= (p.Gly821=) c.2442C= (p.Gly814=) c.2436C= (p.Gly812=) c.2391C= (p.Gly797=) c.2382C= (p.Gly794=) c.2358C= (p.Gly786=) c.2352C= (p.Gly784=) c.2325C= (p.Gly775=) c.2319C= (p.Gly773=) c.2313C= (p.Gly771=) c.2262C= (p.Gly754=) c.2181C= (p.Gly727=) c.2308-270C= (n.2308-270C=) c.2103C= (p.Gly701=) c.2208+1119C= (n.2208+1119C=) c.1323C= (p.Gly441=) n.2599C= | |
17 | g.39724779C>G | CA499670869 | ERBB2 | c.2361C>G (p.Gly787=) c.2271C>G (p.Gly757=) c.1533C>G (p.Gly511=) c.2316C>G (p.Gly772=) c.*2151C>G (n.*2151C>G) c.467C>G n.3495C>G n.2685C>G c.2499C>G (p.Gly833=) c.2454C>G (p.Gly818=) c.2409C>G (p.Gly803=) c.2478C>G (p.Gly826=) c.2463C>G (p.Gly821=) c.2442C>G (p.Gly814=) c.2436C>G (p.Gly812=) c.2391C>G (p.Gly797=) c.2382C>G (p.Gly794=) c.2358C>G (p.Gly786=) c.2352C>G (p.Gly784=) c.2325C>G (p.Gly775=) c.2319C>G (p.Gly773=) c.2313C>G (p.Gly771=) c.2262C>G (p.Gly754=) c.2181C>G (p.Gly727=) c.2308-270C>G (n.2308-270C>G) c.2103C>G (p.Gly701=) c.2208+1119C>G (n.2208+1119C>G) c.1323C>G (p.Gly441=) n.2599C>G | dbSNP |
17 | g.39724779C>T | CA499670868 | ERBB2 | c.2361C>T (p.Gly787=) c.2271C>T (p.Gly757=) c.1533C>T (p.Gly511=) c.2316C>T (p.Gly772=) c.*2151C>T (n.*2151C>T) c.467C>T n.3495C>T n.2685C>T c.2499C>T (p.Gly833=) c.2454C>T (p.Gly818=) c.2409C>T (p.Gly803=) c.2478C>T (p.Gly826=) c.2463C>T (p.Gly821=) c.2442C>T (p.Gly814=) c.2436C>T (p.Gly812=) c.2391C>T (p.Gly797=) c.2382C>T (p.Gly794=) c.2358C>T (p.Gly786=) c.2352C>T (p.Gly784=) c.2325C>T (p.Gly775=) c.2319C>T (p.Gly773=) c.2313C>T (p.Gly771=) c.2262C>T (p.Gly754=) c.2181C>T (p.Gly727=) c.2308-270C>T (n.2308-270C>T) c.2103C>T (p.Gly701=) c.2208+1119C>T (n.2208+1119C>T) c.1323C>T (p.Gly441=) n.2599C>T | dbSNP gnomAD v2 |
17 | g.39724780A>C | CA399303030 | ERBB2 | c.2362A>C (p.Ile788Leu) c.2272A>C (p.Ile758Leu) c.1534A>C (p.Ile512Leu) c.2317A>C (p.Ile773Leu) c.*2152A>C (n.*2152A>C) c.468A>C n.3496A>C n.2686A>C c.2500A>C (p.Ile834Leu) c.2455A>C (p.Ile819Leu) c.2410A>C (p.Ile804Leu) c.2479A>C (p.Ile827Leu) c.2464A>C (p.Ile822Leu) c.2443A>C (p.Ile815Leu) c.2437A>C (p.Ile813Leu) c.2392A>C (p.Ile798Leu) c.2383A>C (p.Ile795Leu) c.2359A>C (p.Ile787Leu) c.2353A>C (p.Ile785Leu) c.2326A>C (p.Ile776Leu) c.2320A>C (p.Ile774Leu) c.2314A>C (p.Ile772Leu) c.2263A>C (p.Ile755Leu) c.2182A>C (p.Ile728Leu) c.2308-269A>C (n.2308-269A>C) c.2104A>C (p.Ile702Leu) c.2208+1120A>C (n.2208+1120A>C) c.1324A>C (p.Ile442Leu) n.2600A>C | dbSNP |
17 | g.39724780A>G | CA399303037 | ERBB2 | c.2362A>G (p.Ile788Val) c.2272A>G (p.Ile758Val) c.1534A>G (p.Ile512Val) c.2317A>G (p.Ile773Val) c.*2152A>G (n.*2152A>G) c.468A>G n.3496A>G n.2686A>G c.2500A>G (p.Ile834Val) c.2455A>G (p.Ile819Val) c.2410A>G (p.Ile804Val) c.2479A>G (p.Ile827Val) c.2464A>G (p.Ile822Val) c.2443A>G (p.Ile815Val) c.2437A>G (p.Ile813Val) c.2392A>G (p.Ile798Val) c.2383A>G (p.Ile795Val) c.2359A>G (p.Ile787Val) c.2353A>G (p.Ile785Val) c.2326A>G (p.Ile776Val) c.2320A>G (p.Ile774Val) c.2314A>G (p.Ile772Val) c.2263A>G (p.Ile755Val) c.2182A>G (p.Ile728Val) c.2308-269A>G (n.2308-269A>G) c.2104A>G (p.Ile702Val) c.2208+1120A>G (n.2208+1120A>G) c.1324A>G (p.Ile442Val) n.2600A>G | dbSNP |
17 | g.39724780A>T | CA399303033 | ERBB2 | c.2362A>T (p.Ile788Phe) c.2272A>T (p.Ile758Phe) c.1534A>T (p.Ile512Phe) c.2317A>T (p.Ile773Phe) c.*2152A>T (n.*2152A>T) c.468A>T n.3496A>T n.2686A>T c.2500A>T (p.Ile834Phe) c.2455A>T (p.Ile819Phe) c.2410A>T (p.Ile804Phe) c.2479A>T (p.Ile827Phe) c.2464A>T (p.Ile822Phe) c.2443A>T (p.Ile815Phe) c.2437A>T (p.Ile813Phe) c.2392A>T (p.Ile798Phe) c.2383A>T (p.Ile795Phe) c.2359A>T (p.Ile787Phe) c.2353A>T (p.Ile785Phe) c.2326A>T (p.Ile776Phe) c.2320A>T (p.Ile774Phe) c.2314A>T (p.Ile772Phe) c.2263A>T (p.Ile755Phe) c.2182A>T (p.Ile728Phe) c.2308-269A>T (n.2308-269A>T) c.2104A>T (p.Ile702Phe) c.2208+1120A>T (n.2208+1120A>T) c.1324A>T (p.Ile442Phe) n.2600A>T | dbSNP |
17 | g.39724781T>A | CA399303038 | ERBB2 | c.2363T>A (p.Ile788Asn) c.2273T>A (p.Ile758Asn) c.1535T>A (p.Ile512Asn) c.2318T>A (p.Ile773Asn) c.*2153T>A (n.*2153T>A) c.469T>A n.3497T>A n.2687T>A c.2501T>A (p.Ile834Asn) c.2456T>A (p.Ile819Asn) c.2411T>A (p.Ile804Asn) c.2480T>A (p.Ile827Asn) c.2465T>A (p.Ile822Asn) c.2444T>A (p.Ile815Asn) c.2438T>A (p.Ile813Asn) c.2393T>A (p.Ile798Asn) c.2384T>A (p.Ile795Asn) c.2360T>A (p.Ile787Asn) c.2354T>A (p.Ile785Asn) c.2327T>A (p.Ile776Asn) c.2321T>A (p.Ile774Asn) c.2315T>A (p.Ile772Asn) c.2264T>A (p.Ile755Asn) c.2183T>A (p.Ile728Asn) c.2308-268T>A (n.2308-268T>A) c.2105T>A (p.Ile702Asn) c.2208+1121T>A (n.2208+1121T>A) c.1325T>A (p.Ile442Asn) n.2601T>A | dbSNP |
17 | g.39724781T>C | CA399303043 | ERBB2 | c.2363T>C (p.Ile788Thr) c.2273T>C (p.Ile758Thr) c.1535T>C (p.Ile512Thr) c.2318T>C (p.Ile773Thr) c.*2153T>C (n.*2153T>C) c.469T>C n.3497T>C n.2687T>C c.2501T>C (p.Ile834Thr) c.2456T>C (p.Ile819Thr) c.2411T>C (p.Ile804Thr) c.2480T>C (p.Ile827Thr) c.2465T>C (p.Ile822Thr) c.2444T>C (p.Ile815Thr) c.2438T>C (p.Ile813Thr) c.2393T>C (p.Ile798Thr) c.2384T>C (p.Ile795Thr) c.2360T>C (p.Ile787Thr) c.2354T>C (p.Ile785Thr) c.2327T>C (p.Ile776Thr) c.2321T>C (p.Ile774Thr) c.2315T>C (p.Ile772Thr) c.2264T>C (p.Ile755Thr) c.2183T>C (p.Ile728Thr) c.2308-268T>C (n.2308-268T>C) c.2105T>C (p.Ile702Thr) c.2208+1121T>C (n.2208+1121T>C) c.1325T>C (p.Ile442Thr) n.2601T>C | dbSNP |
17 | g.39724781T>G | CA399303039 | ERBB2 | c.2363T>G (p.Ile788Ser) c.2273T>G (p.Ile758Ser) c.1535T>G (p.Ile512Ser) c.2318T>G (p.Ile773Ser) c.*2153T>G (n.*2153T>G) c.469T>G n.3497T>G n.2687T>G c.2501T>G (p.Ile834Ser) c.2456T>G (p.Ile819Ser) c.2411T>G (p.Ile804Ser) c.2480T>G (p.Ile827Ser) c.2465T>G (p.Ile822Ser) c.2444T>G (p.Ile815Ser) c.2438T>G (p.Ile813Ser) c.2393T>G (p.Ile798Ser) c.2384T>G (p.Ile795Ser) c.2360T>G (p.Ile787Ser) c.2354T>G (p.Ile785Ser) c.2327T>G (p.Ile776Ser) c.2321T>G (p.Ile774Ser) c.2315T>G (p.Ile772Ser) c.2264T>G (p.Ile755Ser) c.2183T>G (p.Ile728Ser) c.2308-268T>G (n.2308-268T>G) c.2105T>G (p.Ile702Ser) c.2208+1121T>G (n.2208+1121T>G) c.1325T>G (p.Ile442Ser) n.2601T>G | |
17 | g.39724782C>A | CA499670871 | ERBB2 | c.2364C>A (p.Ile788=) c.2274C>A (p.Ile758=) c.1536C>A (p.Ile512=) c.2319C>A (p.Ile773=) c.*2154C>A (n.*2154C>A) c.470C>A n.3498C>A n.2688C>A c.2502C>A (p.Ile834=) c.2457C>A (p.Ile819=) c.2412C>A (p.Ile804=) c.2481C>A (p.Ile827=) c.2466C>A (p.Ile822=) c.2445C>A (p.Ile815=) c.2439C>A (p.Ile813=) c.2394C>A (p.Ile798=) c.2385C>A (p.Ile795=) c.2361C>A (p.Ile787=) c.2355C>A (p.Ile785=) c.2328C>A (p.Ile776=) c.2322C>A (p.Ile774=) c.2316C>A (p.Ile772=) c.2265C>A (p.Ile755=) c.2184C>A (p.Ile728=) c.2308-267C>A (n.2308-267C>A) c.2106C>A (p.Ile702=) c.2208+1122C>A (n.2208+1122C>A) c.1326C>A (p.Ile442=) n.2602C>A | |
17 | g.39724782C>G | CA399303047 | ERBB2 | c.2364C>G (p.Ile788Met) c.2274C>G (p.Ile758Met) c.1536C>G (p.Ile512Met) c.2319C>G (p.Ile773Met) c.*2154C>G (n.*2154C>G) c.470C>G n.3498C>G n.2688C>G c.2502C>G (p.Ile834Met) c.2457C>G (p.Ile819Met) c.2412C>G (p.Ile804Met) c.2481C>G (p.Ile827Met) c.2466C>G (p.Ile822Met) c.2445C>G (p.Ile815Met) c.2439C>G (p.Ile813Met) c.2394C>G (p.Ile798Met) c.2385C>G (p.Ile795Met) c.2361C>G (p.Ile787Met) c.2355C>G (p.Ile785Met) c.2328C>G (p.Ile776Met) c.2322C>G (p.Ile774Met) c.2316C>G (p.Ile772Met) c.2265C>G (p.Ile755Met) c.2184C>G (p.Ile728Met) c.2308-267C>G (n.2308-267C>G) c.2106C>G (p.Ile702Met) c.2208+1122C>G (n.2208+1122C>G) c.1326C>G (p.Ile442Met) n.2602C>G | |
17 | g.39724782C>T | CA499670872 | ERBB2 | c.2364C>T (p.Ile788=) c.2274C>T (p.Ile758=) c.1536C>T (p.Ile512=) c.2319C>T (p.Ile773=) c.*2154C>T (n.*2154C>T) c.470C>T n.3498C>T n.2688C>T c.2502C>T (p.Ile834=) c.2457C>T (p.Ile819=) c.2412C>T (p.Ile804=) c.2481C>T (p.Ile827=) c.2466C>T (p.Ile822=) c.2445C>T (p.Ile815=) c.2439C>T (p.Ile813=) c.2394C>T (p.Ile798=) c.2385C>T (p.Ile795=) c.2361C>T (p.Ile787=) c.2355C>T (p.Ile785=) c.2328C>T (p.Ile776=) c.2322C>T (p.Ile774=) c.2316C>T (p.Ile772=) c.2265C>T (p.Ile755=) c.2184C>T (p.Ile728=) c.2308-267C>T (n.2308-267C>T) c.2106C>T (p.Ile702=) c.2208+1122C>T (n.2208+1122C>T) c.1326C>T (p.Ile442=) n.2602C>T | dbSNP gnomAD v4 |
17 | g.39724783T>A | CA399303052 | ERBB2 | c.2365T>A (p.Cys789Ser) c.2275T>A (p.Cys759Ser) c.1537T>A (p.Cys513Ser) c.2320T>A (p.Cys774Ser) c.*2155T>A (n.*2155T>A) c.471T>A n.3499T>A n.2689T>A c.2503T>A (p.Cys835Ser) c.2458T>A (p.Cys820Ser) c.2413T>A (p.Cys805Ser) c.2482T>A (p.Cys828Ser) c.2467T>A (p.Cys823Ser) c.2446T>A (p.Cys816Ser) c.2440T>A (p.Cys814Ser) c.2395T>A (p.Cys799Ser) c.2386T>A (p.Cys796Ser) c.2362T>A (p.Cys788Ser) c.2356T>A (p.Cys786Ser) c.2329T>A (p.Cys777Ser) c.2323T>A (p.Cys775Ser) c.2317T>A (p.Cys773Ser) c.2266T>A (p.Cys756Ser) c.2185T>A (p.Cys729Ser) c.2308-266T>A (n.2308-266T>A) c.2107T>A (p.Cys703Ser) c.2208+1123T>A (n.2208+1123T>A) c.1327T>A (p.Cys443Ser) n.2603T>A | dbSNP |
17 | g.39724783T>C | CA399303053 | ERBB2 | c.2365T>C (p.Cys789Arg) c.2275T>C (p.Cys759Arg) c.1537T>C (p.Cys513Arg) c.2320T>C (p.Cys774Arg) c.*2155T>C (n.*2155T>C) c.471T>C n.3499T>C n.2689T>C c.2503T>C (p.Cys835Arg) c.2458T>C (p.Cys820Arg) c.2413T>C (p.Cys805Arg) c.2482T>C (p.Cys828Arg) c.2467T>C (p.Cys823Arg) c.2446T>C (p.Cys816Arg) c.2440T>C (p.Cys814Arg) c.2395T>C (p.Cys799Arg) c.2386T>C (p.Cys796Arg) c.2362T>C (p.Cys788Arg) c.2356T>C (p.Cys786Arg) c.2329T>C (p.Cys777Arg) c.2323T>C (p.Cys775Arg) c.2317T>C (p.Cys773Arg) c.2266T>C (p.Cys756Arg) c.2185T>C (p.Cys729Arg) c.2308-266T>C (n.2308-266T>C) c.2107T>C (p.Cys703Arg) c.2208+1123T>C (n.2208+1123T>C) c.1327T>C (p.Cys443Arg) n.2603T>C | dbSNP |
17 | g.39724783T>G | CA399303055 | ERBB2 | c.2365T>G (p.Cys789Gly) c.2275T>G (p.Cys759Gly) c.1537T>G (p.Cys513Gly) c.2320T>G (p.Cys774Gly) c.*2155T>G (n.*2155T>G) c.471T>G n.3499T>G n.2689T>G c.2503T>G (p.Cys835Gly) c.2458T>G (p.Cys820Gly) c.2413T>G (p.Cys805Gly) c.2482T>G (p.Cys828Gly) c.2467T>G (p.Cys823Gly) c.2446T>G (p.Cys816Gly) c.2440T>G (p.Cys814Gly) c.2395T>G (p.Cys799Gly) c.2386T>G (p.Cys796Gly) c.2362T>G (p.Cys788Gly) c.2356T>G (p.Cys786Gly) c.2329T>G (p.Cys777Gly) c.2323T>G (p.Cys775Gly) c.2317T>G (p.Cys773Gly) c.2266T>G (p.Cys756Gly) c.2185T>G (p.Cys729Gly) c.2308-266T>G (n.2308-266T>G) c.2107T>G (p.Cys703Gly) c.2208+1123T>G (n.2208+1123T>G) c.1327T>G (p.Cys443Gly) n.2603T>G | |
17 | g.39724784G>A | CA399303059 | ERBB2 | c.2366G>A (p.Cys789Tyr) c.2276G>A (p.Cys759Tyr) c.1538G>A (p.Cys513Tyr) c.2321G>A (p.Cys774Tyr) c.*2156G>A (n.*2156G>A) c.472G>A n.3500G>A n.2690G>A c.2504G>A (p.Cys835Tyr) c.2459G>A (p.Cys820Tyr) c.2414G>A (p.Cys805Tyr) c.2483G>A (p.Cys828Tyr) c.2468G>A (p.Cys823Tyr) c.2447G>A (p.Cys816Tyr) c.2441G>A (p.Cys814Tyr) c.2396G>A (p.Cys799Tyr) c.2387G>A (p.Cys796Tyr) c.2363G>A (p.Cys788Tyr) c.2357G>A (p.Cys786Tyr) c.2330G>A (p.Cys777Tyr) c.2324G>A (p.Cys775Tyr) c.2318G>A (p.Cys773Tyr) c.2267G>A (p.Cys756Tyr) c.2186G>A (p.Cys729Tyr) c.2308-265G>A (n.2308-265G>A) c.2108G>A (p.Cys703Tyr) c.2208+1124G>A (n.2208+1124G>A) c.1328G>A (p.Cys443Tyr) n.2604G>A | COSMIC COSMIC |
17 | g.39724784G>C | CA399303062 | ERBB2 | c.2366G>C (p.Cys789Ser) c.2276G>C (p.Cys759Ser) c.1538G>C (p.Cys513Ser) c.2321G>C (p.Cys774Ser) c.*2156G>C (n.*2156G>C) c.472G>C n.3500G>C n.2690G>C c.2504G>C (p.Cys835Ser) c.2459G>C (p.Cys820Ser) c.2414G>C (p.Cys805Ser) c.2483G>C (p.Cys828Ser) c.2468G>C (p.Cys823Ser) c.2447G>C (p.Cys816Ser) c.2441G>C (p.Cys814Ser) c.2396G>C (p.Cys799Ser) c.2387G>C (p.Cys796Ser) c.2363G>C (p.Cys788Ser) c.2357G>C (p.Cys786Ser) c.2330G>C (p.Cys777Ser) c.2324G>C (p.Cys775Ser) c.2318G>C (p.Cys773Ser) c.2267G>C (p.Cys756Ser) c.2186G>C (p.Cys729Ser) c.2308-265G>C (n.2308-265G>C) c.2108G>C (p.Cys703Ser) c.2208+1124G>C (n.2208+1124G>C) c.1328G>C (p.Cys443Ser) n.2604G>C | |
17 | g.39724784G>T | CA399303063 | ERBB2 | c.2366G>T (p.Cys789Phe) c.2276G>T (p.Cys759Phe) c.1538G>T (p.Cys513Phe) c.2321G>T (p.Cys774Phe) c.*2156G>T (n.*2156G>T) c.472G>T n.3500G>T n.2690G>T c.2504G>T (p.Cys835Phe) c.2459G>T (p.Cys820Phe) c.2414G>T (p.Cys805Phe) c.2483G>T (p.Cys828Phe) c.2468G>T (p.Cys823Phe) c.2447G>T (p.Cys816Phe) c.2441G>T (p.Cys814Phe) c.2396G>T (p.Cys799Phe) c.2387G>T (p.Cys796Phe) c.2363G>T (p.Cys788Phe) c.2357G>T (p.Cys786Phe) c.2330G>T (p.Cys777Phe) c.2324G>T (p.Cys775Phe) c.2318G>T (p.Cys773Phe) c.2267G>T (p.Cys756Phe) c.2186G>T (p.Cys729Phe) c.2308-265G>T (n.2308-265G>T) c.2108G>T (p.Cys703Phe) c.2208+1124G>T (n.2208+1124G>T) c.1328G>T (p.Cys443Phe) n.2604G>T | |
17 | g.39724785C>A | CA399303068 | ERBB2 | c.2367C>A (p.Cys789Ter) c.2277C>A (p.Cys759Ter) c.1539C>A (p.Cys513Ter) c.2322C>A (p.Cys774Ter) c.*2157C>A (n.*2157C>A) c.473C>A n.3501C>A n.2691C>A c.2505C>A (p.Cys835Ter) c.2460C>A (p.Cys820Ter) c.2415C>A (p.Cys805Ter) c.2484C>A (p.Cys828Ter) c.2469C>A (p.Cys823Ter) c.2448C>A (p.Cys816Ter) c.2442C>A (p.Cys814Ter) c.2397C>A (p.Cys799Ter) c.2388C>A (p.Cys796Ter) c.2364C>A (p.Cys788Ter) c.2358C>A (p.Cys786Ter) c.2331C>A (p.Cys777Ter) c.2325C>A (p.Cys775Ter) c.2319C>A (p.Cys773Ter) c.2268C>A (p.Cys756Ter) c.2187C>A (p.Cys729Ter) c.2308-264C>A (n.2308-264C>A) c.2109C>A (p.Cys703Ter) c.2208+1125C>A (n.2208+1125C>A) c.1329C>A (p.Cys443Ter) n.2605C>A | dbSNP |
17 | g.39724785C= | CA2259228004 | ERBB2 | c.2367C= (p.Cys789=) c.2277C= (p.Cys759=) c.1539C= (p.Cys513=) c.2322C= (p.Cys774=) c.*2157C= (n.*2157C=) c.473C= n.3501C= n.2691C= c.2505C= (p.Cys835=) c.2460C= (p.Cys820=) c.2415C= (p.Cys805=) c.2484C= (p.Cys828=) c.2469C= (p.Cys823=) c.2448C= (p.Cys816=) c.2442C= (p.Cys814=) c.2397C= (p.Cys799=) c.2388C= (p.Cys796=) c.2364C= (p.Cys788=) c.2358C= (p.Cys786=) c.2331C= (p.Cys777=) c.2325C= (p.Cys775=) c.2319C= (p.Cys773=) c.2268C= (p.Cys756=) c.2187C= (p.Cys729=) c.2308-264C= (n.2308-264C=) c.2109C= (p.Cys703=) c.2208+1125C= (n.2208+1125C=) c.1329C= (p.Cys443=) n.2605C= | |
17 | g.39724785C>G | CA399303070 | ERBB2 | c.2367C>G (p.Cys789Trp) c.2277C>G (p.Cys759Trp) c.1539C>G (p.Cys513Trp) c.2322C>G (p.Cys774Trp) c.*2157C>G (n.*2157C>G) c.473C>G n.3501C>G n.2691C>G c.2505C>G (p.Cys835Trp) c.2460C>G (p.Cys820Trp) c.2415C>G (p.Cys805Trp) c.2484C>G (p.Cys828Trp) c.2469C>G (p.Cys823Trp) c.2448C>G (p.Cys816Trp) c.2442C>G (p.Cys814Trp) c.2397C>G (p.Cys799Trp) c.2388C>G (p.Cys796Trp) c.2364C>G (p.Cys788Trp) c.2358C>G (p.Cys786Trp) c.2331C>G (p.Cys777Trp) c.2325C>G (p.Cys775Trp) c.2319C>G (p.Cys773Trp) c.2268C>G (p.Cys756Trp) c.2187C>G (p.Cys729Trp) c.2308-264C>G (n.2308-264C>G) c.2109C>G (p.Cys703Trp) c.2208+1125C>G (n.2208+1125C>G) c.1329C>G (p.Cys443Trp) n.2605C>G | dbSNP |
17 | g.39724785C>T | CA499670873 | ERBB2 | c.2367C>T (p.Cys789=) c.2277C>T (p.Cys759=) c.1539C>T (p.Cys513=) c.2322C>T (p.Cys774=) c.*2157C>T (n.*2157C>T) c.473C>T n.3501C>T n.2691C>T c.2505C>T (p.Cys835=) c.2460C>T (p.Cys820=) c.2415C>T (p.Cys805=) c.2484C>T (p.Cys828=) c.2469C>T (p.Cys823=) c.2448C>T (p.Cys816=) c.2442C>T (p.Cys814=) c.2397C>T (p.Cys799=) c.2388C>T (p.Cys796=) c.2364C>T (p.Cys788=) c.2358C>T (p.Cys786=) c.2331C>T (p.Cys777=) c.2325C>T (p.Cys775=) c.2319C>T (p.Cys773=) c.2268C>T (p.Cys756=) c.2187C>T (p.Cys729=) c.2308-264C>T (n.2308-264C>T) c.2109C>T (p.Cys703=) c.2208+1125C>T (n.2208+1125C>T) c.1329C>T (p.Cys443=) n.2605C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724786C>A | CA399303074 | ERBB2 | c.2368C>A (p.Leu790Met) c.2278C>A (p.Leu760Met) c.1540C>A (p.Leu514Met) c.2323C>A (p.Leu775Met) c.*2158C>A (n.*2158C>A) c.474C>A n.3502C>A n.2692C>A c.2506C>A (p.Leu836Met) c.2461C>A (p.Leu821Met) c.2416C>A (p.Leu806Met) c.2485C>A (p.Leu829Met) c.2470C>A (p.Leu824Met) c.2449C>A (p.Leu817Met) c.2443C>A (p.Leu815Met) c.2398C>A (p.Leu800Met) c.2389C>A (p.Leu797Met) c.2365C>A (p.Leu789Met) c.2359C>A (p.Leu787Met) c.2332C>A (p.Leu778Met) c.2326C>A (p.Leu776Met) c.2320C>A (p.Leu774Met) c.2269C>A (p.Leu757Met) c.2188C>A (p.Leu730Met) c.2308-263C>A (n.2308-263C>A) c.2110C>A (p.Leu704Met) c.2208+1126C>A (n.2208+1126C>A) c.1330C>A (p.Leu444Met) n.2606C>A | dbSNP |
17 | g.39724786C= | CA2259228005 | ERBB2 | c.2368C= (p.Leu790=) c.2278C= (p.Leu760=) c.1540C= (p.Leu514=) c.2323C= (p.Leu775=) c.*2158C= (n.*2158C=) c.474C= n.3502C= n.2692C= c.2506C= (p.Leu836=) c.2461C= (p.Leu821=) c.2416C= (p.Leu806=) c.2485C= (p.Leu829=) c.2470C= (p.Leu824=) c.2449C= (p.Leu817=) c.2443C= (p.Leu815=) c.2398C= (p.Leu800=) c.2389C= (p.Leu797=) c.2365C= (p.Leu789=) c.2359C= (p.Leu787=) c.2332C= (p.Leu778=) c.2326C= (p.Leu776=) c.2320C= (p.Leu774=) c.2269C= (p.Leu757=) c.2188C= (p.Leu730=) c.2308-263C= (n.2308-263C=) c.2110C= (p.Leu704=) c.2208+1126C= (n.2208+1126C=) c.1330C= (p.Leu444=) n.2606C= | |
17 | g.39724786C>G | CA399303076 | ERBB2 | c.2368C>G (p.Leu790Val) c.2278C>G (p.Leu760Val) c.1540C>G (p.Leu514Val) c.2323C>G (p.Leu775Val) c.*2158C>G (n.*2158C>G) c.474C>G n.3502C>G n.2692C>G c.2506C>G (p.Leu836Val) c.2461C>G (p.Leu821Val) c.2416C>G (p.Leu806Val) c.2485C>G (p.Leu829Val) c.2470C>G (p.Leu824Val) c.2449C>G (p.Leu817Val) c.2443C>G (p.Leu815Val) c.2398C>G (p.Leu800Val) c.2389C>G (p.Leu797Val) c.2365C>G (p.Leu789Val) c.2359C>G (p.Leu787Val) c.2332C>G (p.Leu778Val) c.2326C>G (p.Leu776Val) c.2320C>G (p.Leu774Val) c.2269C>G (p.Leu757Val) c.2188C>G (p.Leu730Val) c.2308-263C>G (n.2308-263C>G) c.2110C>G (p.Leu704Val) c.2208+1126C>G (n.2208+1126C>G) c.1330C>G (p.Leu444Val) n.2606C>G | dbSNP |
17 | g.39724786C>T | CA8534287 | ERBB2 | c.2368C>T (p.Leu790=) c.2278C>T (p.Leu760=) c.1540C>T (p.Leu514=) c.2323C>T (p.Leu775=) c.*2158C>T (n.*2158C>T) c.474C>T n.3502C>T n.2692C>T c.2506C>T (p.Leu836=) c.2461C>T (p.Leu821=) c.2416C>T (p.Leu806=) c.2485C>T (p.Leu829=) c.2470C>T (p.Leu824=) c.2449C>T (p.Leu817=) c.2443C>T (p.Leu815=) c.2398C>T (p.Leu800=) c.2389C>T (p.Leu797=) c.2365C>T (p.Leu789=) c.2359C>T (p.Leu787=) c.2332C>T (p.Leu778=) c.2326C>T (p.Leu776=) c.2320C>T (p.Leu774=) c.2269C>T (p.Leu757=) c.2188C>T (p.Leu730=) c.2308-263C>T (n.2308-263C>T) c.2110C>T (p.Leu704=) c.2208+1126C>T (n.2208+1126C>T) c.1330C>T (p.Leu444=) n.2606C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39724787T>A | CA399303082 | ERBB2 | c.2369T>A (p.Leu790Gln) c.2279T>A (p.Leu760Gln) c.1541T>A (p.Leu514Gln) c.2324T>A (p.Leu775Gln) c.*2159T>A (n.*2159T>A) c.475T>A n.3503T>A n.2693T>A c.2507T>A (p.Leu836Gln) c.2462T>A (p.Leu821Gln) c.2417T>A (p.Leu806Gln) c.2486T>A (p.Leu829Gln) c.2471T>A (p.Leu824Gln) c.2450T>A (p.Leu817Gln) c.2444T>A (p.Leu815Gln) c.2399T>A (p.Leu800Gln) c.2390T>A (p.Leu797Gln) c.2366T>A (p.Leu789Gln) c.2360T>A (p.Leu787Gln) c.2333T>A (p.Leu778Gln) c.2327T>A (p.Leu776Gln) c.2321T>A (p.Leu774Gln) c.2270T>A (p.Leu757Gln) c.2189T>A (p.Leu730Gln) c.2308-262T>A (n.2308-262T>A) c.2111T>A (p.Leu704Gln) c.2208+1127T>A (n.2208+1127T>A) c.1331T>A (p.Leu444Gln) n.2607T>A | dbSNP |
17 | g.39724787T>C | CA399303086 | ERBB2 | c.2369T>C (p.Leu790Pro) c.2279T>C (p.Leu760Pro) c.1541T>C (p.Leu514Pro) c.2324T>C (p.Leu775Pro) c.*2159T>C (n.*2159T>C) c.475T>C n.3503T>C n.2693T>C c.2507T>C (p.Leu836Pro) c.2462T>C (p.Leu821Pro) c.2417T>C (p.Leu806Pro) c.2486T>C (p.Leu829Pro) c.2471T>C (p.Leu824Pro) c.2450T>C (p.Leu817Pro) c.2444T>C (p.Leu815Pro) c.2399T>C (p.Leu800Pro) c.2390T>C (p.Leu797Pro) c.2366T>C (p.Leu789Pro) c.2360T>C (p.Leu787Pro) c.2333T>C (p.Leu778Pro) c.2327T>C (p.Leu776Pro) c.2321T>C (p.Leu774Pro) c.2270T>C (p.Leu757Pro) c.2189T>C (p.Leu730Pro) c.2308-262T>C (n.2308-262T>C) c.2111T>C (p.Leu704Pro) c.2208+1127T>C (n.2208+1127T>C) c.1331T>C (p.Leu444Pro) n.2607T>C | dbSNP |
17 | g.39724787T>G | CA399303083 | ERBB2 | c.2369T>G (p.Leu790Arg) c.2279T>G (p.Leu760Arg) c.1541T>G (p.Leu514Arg) c.2324T>G (p.Leu775Arg) c.*2159T>G (n.*2159T>G) c.475T>G n.3503T>G n.2693T>G c.2507T>G (p.Leu836Arg) c.2462T>G (p.Leu821Arg) c.2417T>G (p.Leu806Arg) c.2486T>G (p.Leu829Arg) c.2471T>G (p.Leu824Arg) c.2450T>G (p.Leu817Arg) c.2444T>G (p.Leu815Arg) c.2399T>G (p.Leu800Arg) c.2390T>G (p.Leu797Arg) c.2366T>G (p.Leu789Arg) c.2360T>G (p.Leu787Arg) c.2333T>G (p.Leu778Arg) c.2327T>G (p.Leu776Arg) c.2321T>G (p.Leu774Arg) c.2270T>G (p.Leu757Arg) c.2189T>G (p.Leu730Arg) c.2308-262T>G (n.2308-262T>G) c.2111T>G (p.Leu704Arg) c.2208+1127T>G (n.2208+1127T>G) c.1331T>G (p.Leu444Arg) n.2607T>G | |
17 | g.39724788G>A | CA499670876 | ERBB2 | c.2370G>A (p.Leu790=) c.2280G>A (p.Leu760=) c.1542G>A (p.Leu514=) c.2325G>A (p.Leu775=) c.*2160G>A (n.*2160G>A) c.476G>A n.3504G>A n.2694G>A c.2508G>A (p.Leu836=) c.2463G>A (p.Leu821=) c.2418G>A (p.Leu806=) c.2487G>A (p.Leu829=) c.2472G>A (p.Leu824=) c.2451G>A (p.Leu817=) c.2445G>A (p.Leu815=) c.2400G>A (p.Leu800=) c.2391G>A (p.Leu797=) c.2367G>A (p.Leu789=) c.2361G>A (p.Leu787=) c.2334G>A (p.Leu778=) c.2328G>A (p.Leu776=) c.2322G>A (p.Leu774=) c.2271G>A (p.Leu757=) c.2190G>A (p.Leu730=) c.2308-261G>A (n.2308-261G>A) c.2112G>A (p.Leu704=) c.2208+1128G>A (n.2208+1128G>A) c.1332G>A (p.Leu444=) n.2608G>A | dbSNP |
17 | g.39724788G>C | CA499670875 | ERBB2 | c.2370G>C (p.Leu790=) c.2280G>C (p.Leu760=) c.1542G>C (p.Leu514=) c.2325G>C (p.Leu775=) c.*2160G>C (n.*2160G>C) c.476G>C n.3504G>C n.2694G>C c.2508G>C (p.Leu836=) c.2463G>C (p.Leu821=) c.2418G>C (p.Leu806=) c.2487G>C (p.Leu829=) c.2472G>C (p.Leu824=) c.2451G>C (p.Leu817=) c.2445G>C (p.Leu815=) c.2400G>C (p.Leu800=) c.2391G>C (p.Leu797=) c.2367G>C (p.Leu789=) c.2361G>C (p.Leu787=) c.2334G>C (p.Leu778=) c.2328G>C (p.Leu776=) c.2322G>C (p.Leu774=) c.2271G>C (p.Leu757=) c.2190G>C (p.Leu730=) c.2308-261G>C (n.2308-261G>C) c.2112G>C (p.Leu704=) c.2208+1128G>C (n.2208+1128G>C) c.1332G>C (p.Leu444=) n.2608G>C | dbSNP |
17 | g.39724788G>T | CA499670874 | ERBB2 | c.2370G>T (p.Leu790=) c.2280G>T (p.Leu760=) c.1542G>T (p.Leu514=) c.2325G>T (p.Leu775=) c.*2160G>T (n.*2160G>T) c.476G>T n.3504G>T n.2694G>T c.2508G>T (p.Leu836=) c.2463G>T (p.Leu821=) c.2418G>T (p.Leu806=) c.2487G>T (p.Leu829=) c.2472G>T (p.Leu824=) c.2451G>T (p.Leu817=) c.2445G>T (p.Leu815=) c.2400G>T (p.Leu800=) c.2391G>T (p.Leu797=) c.2367G>T (p.Leu789=) c.2361G>T (p.Leu787=) c.2334G>T (p.Leu778=) c.2328G>T (p.Leu776=) c.2322G>T (p.Leu774=) c.2271G>T (p.Leu757=) c.2190G>T (p.Leu730=) c.2308-261G>T (n.2308-261G>T) c.2112G>T (p.Leu704=) c.2208+1128G>T (n.2208+1128G>T) c.1332G>T (p.Leu444=) n.2608G>T | dbSNP |
17 | g.39724789A>C | CA399303088 | ERBB2 | c.2371A>C (p.Thr791Pro) c.2281A>C (p.Thr761Pro) c.1543A>C (p.Thr515Pro) c.2326A>C (p.Thr776Pro) c.*2161A>C (n.*2161A>C) c.477A>C n.3505A>C n.2695A>C c.2509A>C (p.Thr837Pro) c.2464A>C (p.Thr822Pro) c.2419A>C (p.Thr807Pro) c.2488A>C (p.Thr830Pro) c.2473A>C (p.Thr825Pro) c.2452A>C (p.Thr818Pro) c.2446A>C (p.Thr816Pro) c.2401A>C (p.Thr801Pro) c.2392A>C (p.Thr798Pro) c.2368A>C (p.Thr790Pro) c.2362A>C (p.Thr788Pro) c.2335A>C (p.Thr779Pro) c.2329A>C (p.Thr777Pro) c.2323A>C (p.Thr775Pro) c.2272A>C (p.Thr758Pro) c.2191A>C (p.Thr731Pro) c.2308-260A>C (n.2308-260A>C) c.2113A>C (p.Thr705Pro) c.2208+1129A>C (n.2208+1129A>C) c.1333A>C (p.Thr445Pro) n.2609A>C | dbSNP |
17 | g.39724789A>G | CA399303090 | ERBB2 | c.2371A>G (p.Thr791Ala) c.2281A>G (p.Thr761Ala) c.1543A>G (p.Thr515Ala) c.2326A>G (p.Thr776Ala) c.*2161A>G (n.*2161A>G) c.477A>G n.3505A>G n.2695A>G c.2509A>G (p.Thr837Ala) c.2464A>G (p.Thr822Ala) c.2419A>G (p.Thr807Ala) c.2488A>G (p.Thr830Ala) c.2473A>G (p.Thr825Ala) c.2452A>G (p.Thr818Ala) c.2446A>G (p.Thr816Ala) c.2401A>G (p.Thr801Ala) c.2392A>G (p.Thr798Ala) c.2368A>G (p.Thr790Ala) c.2362A>G (p.Thr788Ala) c.2335A>G (p.Thr779Ala) c.2329A>G (p.Thr777Ala) c.2323A>G (p.Thr775Ala) c.2272A>G (p.Thr758Ala) c.2191A>G (p.Thr731Ala) c.2308-260A>G (n.2308-260A>G) c.2113A>G (p.Thr705Ala) c.2208+1129A>G (n.2208+1129A>G) c.1333A>G (p.Thr445Ala) n.2609A>G | dbSNP |
17 | g.39724789A>T | CA399303093 | ERBB2 | c.2371A>T (p.Thr791Ser) c.2281A>T (p.Thr761Ser) c.1543A>T (p.Thr515Ser) c.2326A>T (p.Thr776Ser) c.*2161A>T (n.*2161A>T) c.477A>T n.3505A>T n.2695A>T c.2509A>T (p.Thr837Ser) c.2464A>T (p.Thr822Ser) c.2419A>T (p.Thr807Ser) c.2488A>T (p.Thr830Ser) c.2473A>T (p.Thr825Ser) c.2452A>T (p.Thr818Ser) c.2446A>T (p.Thr816Ser) c.2401A>T (p.Thr801Ser) c.2392A>T (p.Thr798Ser) c.2368A>T (p.Thr790Ser) c.2362A>T (p.Thr788Ser) c.2335A>T (p.Thr779Ser) c.2329A>T (p.Thr777Ser) c.2323A>T (p.Thr775Ser) c.2272A>T (p.Thr758Ser) c.2191A>T (p.Thr731Ser) c.2308-260A>T (n.2308-260A>T) c.2113A>T (p.Thr705Ser) c.2208+1129A>T (n.2208+1129A>T) c.1333A>T (p.Thr445Ser) n.2609A>T | dbSNP |
17 | g.39724790C>A | CA399303097 | ERBB2 | c.2372C>A (p.Thr791Lys) c.2282C>A (p.Thr761Lys) c.1544C>A (p.Thr515Lys) c.2327C>A (p.Thr776Lys) c.*2162C>A (n.*2162C>A) c.478C>A n.3506C>A n.2696C>A c.2510C>A (p.Thr837Lys) c.2465C>A (p.Thr822Lys) c.2420C>A (p.Thr807Lys) c.2489C>A (p.Thr830Lys) c.2474C>A (p.Thr825Lys) c.2453C>A (p.Thr818Lys) c.2447C>A (p.Thr816Lys) c.2402C>A (p.Thr801Lys) c.2393C>A (p.Thr798Lys) c.2369C>A (p.Thr790Lys) c.2363C>A (p.Thr788Lys) c.2336C>A (p.Thr779Lys) c.2330C>A (p.Thr777Lys) c.2324C>A (p.Thr775Lys) c.2273C>A (p.Thr758Lys) c.2192C>A (p.Thr731Lys) c.2308-259C>A (n.2308-259C>A) c.2114C>A (p.Thr705Lys) c.2208+1130C>A (n.2208+1130C>A) c.1334C>A (p.Thr445Lys) n.2610C>A | dbSNP |
17 | g.39724790C>G | CA399303100 | ERBB2 | c.2372C>G (p.Thr791Arg) c.2282C>G (p.Thr761Arg) c.1544C>G (p.Thr515Arg) c.2327C>G (p.Thr776Arg) c.*2162C>G (n.*2162C>G) c.478C>G n.3506C>G n.2696C>G c.2510C>G (p.Thr837Arg) c.2465C>G (p.Thr822Arg) c.2420C>G (p.Thr807Arg) c.2489C>G (p.Thr830Arg) c.2474C>G (p.Thr825Arg) c.2453C>G (p.Thr818Arg) c.2447C>G (p.Thr816Arg) c.2402C>G (p.Thr801Arg) c.2393C>G (p.Thr798Arg) c.2369C>G (p.Thr790Arg) c.2363C>G (p.Thr788Arg) c.2336C>G (p.Thr779Arg) c.2330C>G (p.Thr777Arg) c.2324C>G (p.Thr775Arg) c.2273C>G (p.Thr758Arg) c.2192C>G (p.Thr731Arg) c.2308-259C>G (n.2308-259C>G) c.2114C>G (p.Thr705Arg) c.2208+1130C>G (n.2208+1130C>G) c.1334C>G (p.Thr445Arg) n.2610C>G | dbSNP |
17 | g.39724790C>T | CA399303103 | ERBB2 | c.2372C>T (p.Thr791Ile) c.2282C>T (p.Thr761Ile) c.1544C>T (p.Thr515Ile) c.2327C>T (p.Thr776Ile) c.*2162C>T (n.*2162C>T) c.478C>T n.3506C>T n.2696C>T c.2510C>T (p.Thr837Ile) c.2465C>T (p.Thr822Ile) c.2420C>T (p.Thr807Ile) c.2489C>T (p.Thr830Ile) c.2474C>T (p.Thr825Ile) c.2453C>T (p.Thr818Ile) c.2447C>T (p.Thr816Ile) c.2402C>T (p.Thr801Ile) c.2393C>T (p.Thr798Ile) c.2369C>T (p.Thr790Ile) c.2363C>T (p.Thr788Ile) c.2336C>T (p.Thr779Ile) c.2330C>T (p.Thr777Ile) c.2324C>T (p.Thr775Ile) c.2273C>T (p.Thr758Ile) c.2192C>T (p.Thr731Ile) c.2308-259C>T (n.2308-259C>T) c.2114C>T (p.Thr705Ile) c.2208+1130C>T (n.2208+1130C>T) c.1334C>T (p.Thr445Ile) n.2610C>T | dbSNP |
17 | g.39724791A>C | CA499670877 | ERBB2 | c.2373A>C (p.Thr791=) c.2283A>C (p.Thr761=) c.1545A>C (p.Thr515=) c.2328A>C (p.Thr776=) c.*2163A>C (n.*2163A>C) c.479A>C n.3507A>C n.2697A>C c.2511A>C (p.Thr837=) c.2466A>C (p.Thr822=) c.2421A>C (p.Thr807=) c.2490A>C (p.Thr830=) c.2475A>C (p.Thr825=) c.2454A>C (p.Thr818=) c.2448A>C (p.Thr816=) c.2403A>C (p.Thr801=) c.2394A>C (p.Thr798=) c.2370A>C (p.Thr790=) c.2364A>C (p.Thr788=) c.2337A>C (p.Thr779=) c.2331A>C (p.Thr777=) c.2325A>C (p.Thr775=) c.2274A>C (p.Thr758=) c.2193A>C (p.Thr731=) c.2308-258A>C (n.2308-258A>C) c.2115A>C (p.Thr705=) c.2208+1131A>C (n.2208+1131A>C) c.1335A>C (p.Thr445=) n.2611A>C | dbSNP |
17 | g.39724791A>G | CA499670879 | ERBB2 | c.2373A>G (p.Thr791=) c.2283A>G (p.Thr761=) c.1545A>G (p.Thr515=) c.2328A>G (p.Thr776=) c.*2163A>G (n.*2163A>G) c.479A>G n.3507A>G n.2697A>G c.2511A>G (p.Thr837=) c.2466A>G (p.Thr822=) c.2421A>G (p.Thr807=) c.2490A>G (p.Thr830=) c.2475A>G (p.Thr825=) c.2454A>G (p.Thr818=) c.2448A>G (p.Thr816=) c.2403A>G (p.Thr801=) c.2394A>G (p.Thr798=) c.2370A>G (p.Thr790=) c.2364A>G (p.Thr788=) c.2337A>G (p.Thr779=) c.2331A>G (p.Thr777=) c.2325A>G (p.Thr775=) c.2274A>G (p.Thr758=) c.2193A>G (p.Thr731=) c.2308-258A>G (n.2308-258A>G) c.2115A>G (p.Thr705=) c.2208+1131A>G (n.2208+1131A>G) c.1335A>G (p.Thr445=) n.2611A>G | dbSNP |
17 | g.39724791A>T | CA499670878 | ERBB2 | c.2373A>T (p.Thr791=) c.2283A>T (p.Thr761=) c.1545A>T (p.Thr515=) c.2328A>T (p.Thr776=) c.*2163A>T (n.*2163A>T) c.479A>T n.3507A>T n.2697A>T c.2511A>T (p.Thr837=) c.2466A>T (p.Thr822=) c.2421A>T (p.Thr807=) c.2490A>T (p.Thr830=) c.2475A>T (p.Thr825=) c.2454A>T (p.Thr818=) c.2448A>T (p.Thr816=) c.2403A>T (p.Thr801=) c.2394A>T (p.Thr798=) c.2370A>T (p.Thr790=) c.2364A>T (p.Thr788=) c.2337A>T (p.Thr779=) c.2331A>T (p.Thr777=) c.2325A>T (p.Thr775=) c.2274A>T (p.Thr758=) c.2193A>T (p.Thr731=) c.2308-258A>T (n.2308-258A>T) c.2115A>T (p.Thr705=) c.2208+1131A>T (n.2208+1131A>T) c.1335A>T (p.Thr445=) n.2611A>T | dbSNP |
17 | g.39724792T>A | CA399303106 | ERBB2 | c.2374T>A (p.Ser792Thr) c.2284T>A (p.Ser762Thr) c.1546T>A (p.Ser516Thr) c.2329T>A (p.Ser777Thr) c.*2164T>A (n.*2164T>A) c.480T>A n.3508T>A n.2698T>A c.2512T>A (p.Ser838Thr) c.2467T>A (p.Ser823Thr) c.2422T>A (p.Ser808Thr) c.2491T>A (p.Ser831Thr) c.2476T>A (p.Ser826Thr) c.2455T>A (p.Ser819Thr) c.2449T>A (p.Ser817Thr) c.2404T>A (p.Ser802Thr) c.2395T>A (p.Ser799Thr) c.2371T>A (p.Ser791Thr) c.2365T>A (p.Ser789Thr) c.2338T>A (p.Ser780Thr) c.2332T>A (p.Ser778Thr) c.2326T>A (p.Ser776Thr) c.2275T>A (p.Ser759Thr) c.2194T>A (p.Ser732Thr) c.2308-257T>A (n.2308-257T>A) c.2116T>A (p.Ser706Thr) c.2208+1132T>A (n.2208+1132T>A) c.1336T>A (p.Ser446Thr) n.2612T>A | |
17 | g.39724792T>C | CA399303114 | ERBB2 | c.2374T>C (p.Ser792Pro) c.2284T>C (p.Ser762Pro) c.1546T>C (p.Ser516Pro) c.2329T>C (p.Ser777Pro) c.*2164T>C (n.*2164T>C) c.480T>C n.3508T>C n.2698T>C c.2512T>C (p.Ser838Pro) c.2467T>C (p.Ser823Pro) c.2422T>C (p.Ser808Pro) c.2491T>C (p.Ser831Pro) c.2476T>C (p.Ser826Pro) c.2455T>C (p.Ser819Pro) c.2449T>C (p.Ser817Pro) c.2404T>C (p.Ser802Pro) c.2395T>C (p.Ser799Pro) c.2371T>C (p.Ser791Pro) c.2365T>C (p.Ser789Pro) c.2338T>C (p.Ser780Pro) c.2332T>C (p.Ser778Pro) c.2326T>C (p.Ser776Pro) c.2275T>C (p.Ser759Pro) c.2194T>C (p.Ser732Pro) c.2308-257T>C (n.2308-257T>C) c.2116T>C (p.Ser706Pro) c.2208+1132T>C (n.2208+1132T>C) c.1336T>C (p.Ser446Pro) n.2612T>C | |
17 | g.39724792T>G | CA399303117 | ERBB2 | c.2374T>G (p.Ser792Ala) c.2284T>G (p.Ser762Ala) c.1546T>G (p.Ser516Ala) c.2329T>G (p.Ser777Ala) c.*2164T>G (n.*2164T>G) c.480T>G n.3508T>G n.2698T>G c.2512T>G (p.Ser838Ala) c.2467T>G (p.Ser823Ala) c.2422T>G (p.Ser808Ala) c.2491T>G (p.Ser831Ala) c.2476T>G (p.Ser826Ala) c.2455T>G (p.Ser819Ala) c.2449T>G (p.Ser817Ala) c.2404T>G (p.Ser802Ala) c.2395T>G (p.Ser799Ala) c.2371T>G (p.Ser791Ala) c.2365T>G (p.Ser789Ala) c.2338T>G (p.Ser780Ala) c.2332T>G (p.Ser778Ala) c.2326T>G (p.Ser776Ala) c.2275T>G (p.Ser759Ala) c.2194T>G (p.Ser732Ala) c.2308-257T>G (n.2308-257T>G) c.2116T>G (p.Ser706Ala) c.2208+1132T>G (n.2208+1132T>G) c.1336T>G (p.Ser446Ala) n.2612T>G | |
17 | g.39724793C>A | CA399303123 | ERBB2 | c.2375C>A (p.Ser792Tyr) c.2285C>A (p.Ser762Tyr) c.1547C>A (p.Ser516Tyr) c.2330C>A (p.Ser777Tyr) c.*2165C>A (n.*2165C>A) c.481C>A n.3509C>A n.2699C>A c.2513C>A (p.Ser838Tyr) c.2468C>A (p.Ser823Tyr) c.2423C>A (p.Ser808Tyr) c.2492C>A (p.Ser831Tyr) c.2477C>A (p.Ser826Tyr) c.2456C>A (p.Ser819Tyr) c.2450C>A (p.Ser817Tyr) c.2405C>A (p.Ser802Tyr) c.2396C>A (p.Ser799Tyr) c.2372C>A (p.Ser791Tyr) c.2366C>A (p.Ser789Tyr) c.2339C>A (p.Ser780Tyr) c.2333C>A (p.Ser778Tyr) c.2327C>A (p.Ser776Tyr) c.2276C>A (p.Ser759Tyr) c.2195C>A (p.Ser732Tyr) c.2308-256C>A (n.2308-256C>A) c.2117C>A (p.Ser706Tyr) c.2208+1133C>A (n.2208+1133C>A) c.1337C>A (p.Ser446Tyr) n.2613C>A | dbSNP |
17 | g.39724793C>G | CA399303127 | ERBB2 | c.2375C>G (p.Ser792Cys) c.2285C>G (p.Ser762Cys) c.1547C>G (p.Ser516Cys) c.2330C>G (p.Ser777Cys) c.*2165C>G (n.*2165C>G) c.481C>G n.3509C>G n.2699C>G c.2513C>G (p.Ser838Cys) c.2468C>G (p.Ser823Cys) c.2423C>G (p.Ser808Cys) c.2492C>G (p.Ser831Cys) c.2477C>G (p.Ser826Cys) c.2456C>G (p.Ser819Cys) c.2450C>G (p.Ser817Cys) c.2405C>G (p.Ser802Cys) c.2396C>G (p.Ser799Cys) c.2372C>G (p.Ser791Cys) c.2366C>G (p.Ser789Cys) c.2339C>G (p.Ser780Cys) c.2333C>G (p.Ser778Cys) c.2327C>G (p.Ser776Cys) c.2276C>G (p.Ser759Cys) c.2195C>G (p.Ser732Cys) c.2308-256C>G (n.2308-256C>G) c.2117C>G (p.Ser706Cys) c.2208+1133C>G (n.2208+1133C>G) c.1337C>G (p.Ser446Cys) n.2613C>G | dbSNP |
17 | g.39724793C>T | CA399303121 | ERBB2 | c.2375C>T (p.Ser792Phe) c.2285C>T (p.Ser762Phe) c.1547C>T (p.Ser516Phe) c.2330C>T (p.Ser777Phe) c.*2165C>T (n.*2165C>T) c.481C>T n.3509C>T n.2699C>T c.2513C>T (p.Ser838Phe) c.2468C>T (p.Ser823Phe) c.2423C>T (p.Ser808Phe) c.2492C>T (p.Ser831Phe) c.2477C>T (p.Ser826Phe) c.2456C>T (p.Ser819Phe) c.2450C>T (p.Ser817Phe) c.2405C>T (p.Ser802Phe) c.2396C>T (p.Ser799Phe) c.2372C>T (p.Ser791Phe) c.2366C>T (p.Ser789Phe) c.2339C>T (p.Ser780Phe) c.2333C>T (p.Ser778Phe) c.2327C>T (p.Ser776Phe) c.2276C>T (p.Ser759Phe) c.2195C>T (p.Ser732Phe) c.2308-256C>T (n.2308-256C>T) c.2117C>T (p.Ser706Phe) c.2208+1133C>T (n.2208+1133C>T) c.1337C>T (p.Ser446Phe) n.2613C>T | dbSNP |
17 | g.39724794C>A | CA499670880 | ERBB2 | c.2376C>A (p.Ser792=) c.2286C>A (p.Ser762=) c.1548C>A (p.Ser516=) c.2331C>A (p.Ser777=) c.*2166C>A (n.*2166C>A) c.482C>A n.3510C>A n.2700C>A c.2514C>A (p.Ser838=) c.2469C>A (p.Ser823=) c.2424C>A (p.Ser808=) c.2493C>A (p.Ser831=) c.2478C>A (p.Ser826=) c.2457C>A (p.Ser819=) c.2451C>A (p.Ser817=) c.2406C>A (p.Ser802=) c.2397C>A (p.Ser799=) c.2373C>A (p.Ser791=) c.2367C>A (p.Ser789=) c.2340C>A (p.Ser780=) c.2334C>A (p.Ser778=) c.2328C>A (p.Ser776=) c.2277C>A (p.Ser759=) c.2196C>A (p.Ser732=) c.2308-255C>A (n.2308-255C>A) c.2118C>A (p.Ser706=) c.2208+1134C>A (n.2208+1134C>A) c.1338C>A (p.Ser446=) n.2614C>A | |
17 | g.39724794C>G | CA499670881 | ERBB2 | c.2376C>G (p.Ser792=) c.2286C>G (p.Ser762=) c.1548C>G (p.Ser516=) c.2331C>G (p.Ser777=) c.*2166C>G (n.*2166C>G) c.482C>G n.3510C>G n.2700C>G c.2514C>G (p.Ser838=) c.2469C>G (p.Ser823=) c.2424C>G (p.Ser808=) c.2493C>G (p.Ser831=) c.2478C>G (p.Ser826=) c.2457C>G (p.Ser819=) c.2451C>G (p.Ser817=) c.2406C>G (p.Ser802=) c.2397C>G (p.Ser799=) c.2373C>G (p.Ser791=) c.2367C>G (p.Ser789=) c.2340C>G (p.Ser780=) c.2334C>G (p.Ser778=) c.2328C>G (p.Ser776=) c.2277C>G (p.Ser759=) c.2196C>G (p.Ser732=) c.2308-255C>G (n.2308-255C>G) c.2118C>G (p.Ser706=) c.2208+1134C>G (n.2208+1134C>G) c.1338C>G (p.Ser446=) n.2614C>G | dbSNP |
17 | g.39724794C>T | CA499670882 | ERBB2 | c.2376C>T (p.Ser792=) c.2286C>T (p.Ser762=) c.1548C>T (p.Ser516=) c.2331C>T (p.Ser777=) c.*2166C>T (n.*2166C>T) c.482C>T n.3510C>T n.2700C>T c.2514C>T (p.Ser838=) c.2469C>T (p.Ser823=) c.2424C>T (p.Ser808=) c.2493C>T (p.Ser831=) c.2478C>T (p.Ser826=) c.2457C>T (p.Ser819=) c.2451C>T (p.Ser817=) c.2406C>T (p.Ser802=) c.2397C>T (p.Ser799=) c.2373C>T (p.Ser791=) c.2367C>T (p.Ser789=) c.2340C>T (p.Ser780=) c.2334C>T (p.Ser778=) c.2328C>T (p.Ser776=) c.2277C>T (p.Ser759=) c.2196C>T (p.Ser732=) c.2308-255C>T (n.2308-255C>T) c.2118C>T (p.Ser706=) c.2208+1134C>T (n.2208+1134C>T) c.1338C>T (p.Ser446=) n.2614C>T | dbSNP |
17 | g.39724795A>C | CA399303131 | ERBB2 | c.2377A>C (p.Thr793Pro) c.2287A>C (p.Thr763Pro) c.1549A>C (p.Thr517Pro) c.2332A>C (p.Thr778Pro) c.*2167A>C (n.*2167A>C) c.483A>C n.3511A>C n.2701A>C c.2515A>C (p.Thr839Pro) c.2470A>C (p.Thr824Pro) c.2425A>C (p.Thr809Pro) c.2494A>C (p.Thr832Pro) c.2479A>C (p.Thr827Pro) c.2458A>C (p.Thr820Pro) c.2452A>C (p.Thr818Pro) c.2407A>C (p.Thr803Pro) c.2398A>C (p.Thr800Pro) c.2374A>C (p.Thr792Pro) c.2368A>C (p.Thr790Pro) c.2341A>C (p.Thr781Pro) c.2335A>C (p.Thr779Pro) c.2329A>C (p.Thr777Pro) c.2278A>C (p.Thr760Pro) c.2197A>C (p.Thr733Pro) c.2308-254A>C (n.2308-254A>C) c.2119A>C (p.Thr707Pro) c.2208+1135A>C (n.2208+1135A>C) c.1339A>C (p.Thr447Pro) n.2615A>C | dbSNP |
17 | g.39724795A>G | CA399303133 | ERBB2 | c.2377A>G (p.Thr793Ala) c.2287A>G (p.Thr763Ala) c.1549A>G (p.Thr517Ala) c.2332A>G (p.Thr778Ala) c.*2167A>G (n.*2167A>G) c.483A>G n.3511A>G n.2701A>G c.2515A>G (p.Thr839Ala) c.2470A>G (p.Thr824Ala) c.2425A>G (p.Thr809Ala) c.2494A>G (p.Thr832Ala) c.2479A>G (p.Thr827Ala) c.2458A>G (p.Thr820Ala) c.2452A>G (p.Thr818Ala) c.2407A>G (p.Thr803Ala) c.2398A>G (p.Thr800Ala) c.2374A>G (p.Thr792Ala) c.2368A>G (p.Thr790Ala) c.2341A>G (p.Thr781Ala) c.2335A>G (p.Thr779Ala) c.2329A>G (p.Thr777Ala) c.2278A>G (p.Thr760Ala) c.2197A>G (p.Thr733Ala) c.2308-254A>G (n.2308-254A>G) c.2119A>G (p.Thr707Ala) c.2208+1135A>G (n.2208+1135A>G) c.1339A>G (p.Thr447Ala) n.2615A>G | dbSNP |
17 | g.39724795A>T | CA399303136 | ERBB2 | c.2377A>T (p.Thr793Ser) c.2287A>T (p.Thr763Ser) c.1549A>T (p.Thr517Ser) c.2332A>T (p.Thr778Ser) c.*2167A>T (n.*2167A>T) c.483A>T n.3511A>T n.2701A>T c.2515A>T (p.Thr839Ser) c.2470A>T (p.Thr824Ser) c.2425A>T (p.Thr809Ser) c.2494A>T (p.Thr832Ser) c.2479A>T (p.Thr827Ser) c.2458A>T (p.Thr820Ser) c.2452A>T (p.Thr818Ser) c.2407A>T (p.Thr803Ser) c.2398A>T (p.Thr800Ser) c.2374A>T (p.Thr792Ser) c.2368A>T (p.Thr790Ser) c.2341A>T (p.Thr781Ser) c.2335A>T (p.Thr779Ser) c.2329A>T (p.Thr777Ser) c.2278A>T (p.Thr760Ser) c.2197A>T (p.Thr733Ser) c.2308-254A>T (n.2308-254A>T) c.2119A>T (p.Thr707Ser) c.2208+1135A>T (n.2208+1135A>T) c.1339A>T (p.Thr447Ser) n.2615A>T | dbSNP |
17 | g.39724796C>A | CA399303140 | ERBB2 | c.2378C>A (p.Thr793Lys) c.2288C>A (p.Thr763Lys) c.1550C>A (p.Thr517Lys) c.2333C>A (p.Thr778Lys) c.*2168C>A (n.*2168C>A) c.484C>A n.3512C>A n.2702C>A c.2516C>A (p.Thr839Lys) c.2471C>A (p.Thr824Lys) c.2426C>A (p.Thr809Lys) c.2495C>A (p.Thr832Lys) c.2480C>A (p.Thr827Lys) c.2459C>A (p.Thr820Lys) c.2453C>A (p.Thr818Lys) c.2408C>A (p.Thr803Lys) c.2399C>A (p.Thr800Lys) c.2375C>A (p.Thr792Lys) c.2369C>A (p.Thr790Lys) c.2342C>A (p.Thr781Lys) c.2336C>A (p.Thr779Lys) c.2330C>A (p.Thr777Lys) c.2279C>A (p.Thr760Lys) c.2198C>A (p.Thr733Lys) c.2308-253C>A (n.2308-253C>A) c.2120C>A (p.Thr707Lys) c.2208+1136C>A (n.2208+1136C>A) c.1340C>A (p.Thr447Lys) n.2616C>A | dbSNP |
17 | g.39724796C= | CA2259228006 | ERBB2 | c.2378C= (p.Thr793=) c.2288C= (p.Thr763=) c.1550C= (p.Thr517=) c.2333C= (p.Thr778=) c.*2168C= (n.*2168C=) c.484C= n.3512C= n.2702C= c.2516C= (p.Thr839=) c.2471C= (p.Thr824=) c.2426C= (p.Thr809=) c.2495C= (p.Thr832=) c.2480C= (p.Thr827=) c.2459C= (p.Thr820=) c.2453C= (p.Thr818=) c.2408C= (p.Thr803=) c.2399C= (p.Thr800=) c.2375C= (p.Thr792=) c.2369C= (p.Thr790=) c.2342C= (p.Thr781=) c.2336C= (p.Thr779=) c.2330C= (p.Thr777=) c.2279C= (p.Thr760=) c.2198C= (p.Thr733=) c.2308-253C= (n.2308-253C=) c.2120C= (p.Thr707=) c.2208+1136C= (n.2208+1136C=) c.1340C= (p.Thr447=) n.2616C= | |
17 | g.39724796C>G | CA399303145 | ERBB2 | c.2378C>G (p.Thr793Arg) c.2288C>G (p.Thr763Arg) c.1550C>G (p.Thr517Arg) c.2333C>G (p.Thr778Arg) c.*2168C>G (n.*2168C>G) c.484C>G n.3512C>G n.2702C>G c.2516C>G (p.Thr839Arg) c.2471C>G (p.Thr824Arg) c.2426C>G (p.Thr809Arg) c.2495C>G (p.Thr832Arg) c.2480C>G (p.Thr827Arg) c.2459C>G (p.Thr820Arg) c.2453C>G (p.Thr818Arg) c.2408C>G (p.Thr803Arg) c.2399C>G (p.Thr800Arg) c.2375C>G (p.Thr792Arg) c.2369C>G (p.Thr790Arg) c.2342C>G (p.Thr781Arg) c.2336C>G (p.Thr779Arg) c.2330C>G (p.Thr777Arg) c.2279C>G (p.Thr760Arg) c.2198C>G (p.Thr733Arg) c.2308-253C>G (n.2308-253C>G) c.2120C>G (p.Thr707Arg) c.2208+1136C>G (n.2208+1136C>G) c.1340C>G (p.Thr447Arg) n.2616C>G | dbSNP |
17 | g.39724796C>T | CA8534288 | ERBB2 | c.2378C>T (p.Thr793Met) c.2288C>T (p.Thr763Met) c.1550C>T (p.Thr517Met) c.2333C>T (p.Thr778Met) c.*2168C>T (n.*2168C>T) c.484C>T n.3512C>T n.2702C>T c.2516C>T (p.Thr839Met) c.2471C>T (p.Thr824Met) c.2426C>T (p.Thr809Met) c.2495C>T (p.Thr832Met) c.2480C>T (p.Thr827Met) c.2459C>T (p.Thr820Met) c.2453C>T (p.Thr818Met) c.2408C>T (p.Thr803Met) c.2399C>T (p.Thr800Met) c.2375C>T (p.Thr792Met) c.2369C>T (p.Thr790Met) c.2342C>T (p.Thr781Met) c.2336C>T (p.Thr779Met) c.2330C>T (p.Thr777Met) c.2279C>T (p.Thr760Met) c.2198C>T (p.Thr733Met) c.2308-253C>T (n.2308-253C>T) c.2120C>T (p.Thr707Met) c.2208+1136C>T (n.2208+1136C>T) c.1340C>T (p.Thr447Met) n.2616C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724797G>A | CA8534289 | ERBB2 | c.2379G>A (p.Thr793=) c.2289G>A (p.Thr763=) c.1551G>A (p.Thr517=) c.2334G>A (p.Thr778=) c.*2169G>A (n.*2169G>A) c.485G>A n.3513G>A n.2703G>A c.2517G>A (p.Thr839=) c.2472G>A (p.Thr824=) c.2427G>A (p.Thr809=) c.2496G>A (p.Thr832=) c.2481G>A (p.Thr827=) c.2460G>A (p.Thr820=) c.2454G>A (p.Thr818=) c.2409G>A (p.Thr803=) c.2400G>A (p.Thr800=) c.2376G>A (p.Thr792=) c.2370G>A (p.Thr790=) c.2343G>A (p.Thr781=) c.2337G>A (p.Thr779=) c.2331G>A (p.Thr777=) c.2280G>A (p.Thr760=) c.2199G>A (p.Thr733=) c.2308-252G>A (n.2308-252G>A) c.2121G>A (p.Thr707=) c.2208+1137G>A (n.2208+1137G>A) c.1341G>A (p.Thr447=) n.2617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39724797G>C | CA499670883 | ERBB2 | c.2379G>C (p.Thr793=) c.2289G>C (p.Thr763=) c.1551G>C (p.Thr517=) c.2334G>C (p.Thr778=) c.*2169G>C (n.*2169G>C) c.485G>C n.3513G>C n.2703G>C c.2517G>C (p.Thr839=) c.2472G>C (p.Thr824=) c.2427G>C (p.Thr809=) c.2496G>C (p.Thr832=) c.2481G>C (p.Thr827=) c.2460G>C (p.Thr820=) c.2454G>C (p.Thr818=) c.2409G>C (p.Thr803=) c.2400G>C (p.Thr800=) c.2376G>C (p.Thr792=) c.2370G>C (p.Thr790=) c.2343G>C (p.Thr781=) c.2337G>C (p.Thr779=) c.2331G>C (p.Thr777=) c.2280G>C (p.Thr760=) c.2199G>C (p.Thr733=) c.2308-252G>C (n.2308-252G>C) c.2121G>C (p.Thr707=) c.2208+1137G>C (n.2208+1137G>C) c.1341G>C (p.Thr447=) n.2617G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724797G= | CA2259228007 | ERBB2 | c.2379G= (p.Thr793=) c.2289G= (p.Thr763=) c.1551G= (p.Thr517=) c.2334G= (p.Thr778=) c.*2169G= (n.*2169G=) c.485G= n.3513G= n.2703G= c.2517G= (p.Thr839=) c.2472G= (p.Thr824=) c.2427G= (p.Thr809=) c.2496G= (p.Thr832=) c.2481G= (p.Thr827=) c.2460G= (p.Thr820=) c.2454G= (p.Thr818=) c.2409G= (p.Thr803=) c.2400G= (p.Thr800=) c.2376G= (p.Thr792=) c.2370G= (p.Thr790=) c.2343G= (p.Thr781=) c.2337G= (p.Thr779=) c.2331G= (p.Thr777=) c.2280G= (p.Thr760=) c.2199G= (p.Thr733=) c.2308-252G= (n.2308-252G=) c.2121G= (p.Thr707=) c.2208+1137G= (n.2208+1137G=) c.1341G= (p.Thr447=) n.2617G= | |
17 | g.39724797G>T | CA499670884 | ERBB2 | c.2379G>T (p.Thr793=) c.2289G>T (p.Thr763=) c.1551G>T (p.Thr517=) c.2334G>T (p.Thr778=) c.*2169G>T (n.*2169G>T) c.485G>T n.3513G>T n.2703G>T c.2517G>T (p.Thr839=) c.2472G>T (p.Thr824=) c.2427G>T (p.Thr809=) c.2496G>T (p.Thr832=) c.2481G>T (p.Thr827=) c.2460G>T (p.Thr820=) c.2454G>T (p.Thr818=) c.2409G>T (p.Thr803=) c.2400G>T (p.Thr800=) c.2376G>T (p.Thr792=) c.2370G>T (p.Thr790=) c.2343G>T (p.Thr781=) c.2337G>T (p.Thr779=) c.2331G>T (p.Thr777=) c.2280G>T (p.Thr760=) c.2199G>T (p.Thr733=) c.2308-252G>T (n.2308-252G>T) c.2121G>T (p.Thr707=) c.2208+1137G>T (n.2208+1137G>T) c.1341G>T (p.Thr447=) n.2617G>T | dbSNP |
17 | g.39724798G>A | CA399303151 | ERBB2 | c.2380G>A (p.Val794Met) c.2290G>A (p.Val764Met) c.1552G>A (p.Val518Met) c.2335G>A (p.Val779Met) c.*2170G>A (n.*2170G>A) c.486G>A n.3514G>A n.2704G>A c.2518G>A (p.Val840Met) c.2473G>A (p.Val825Met) c.2428G>A (p.Val810Met) c.2497G>A (p.Val833Met) c.2482G>A (p.Val828Met) c.2461G>A (p.Val821Met) c.2455G>A (p.Val819Met) c.2410G>A (p.Val804Met) c.2401G>A (p.Val801Met) c.2377G>A (p.Val793Met) c.2371G>A (p.Val791Met) c.2344G>A (p.Val782Met) c.2338G>A (p.Val780Met) c.2332G>A (p.Val778Met) c.2281G>A (p.Val761Met) c.2200G>A (p.Val734Met) c.2308-251G>A (n.2308-251G>A) c.2122G>A (p.Val708Met) c.2208+1138G>A (n.2208+1138G>A) c.1342G>A (p.Val448Met) n.2618G>A | dbSNP |
17 | g.39724798G>C | CA399303154 | ERBB2 | c.2380G>C (p.Val794Leu) c.2290G>C (p.Val764Leu) c.1552G>C (p.Val518Leu) c.2335G>C (p.Val779Leu) c.*2170G>C (n.*2170G>C) c.486G>C n.3514G>C n.2704G>C c.2518G>C (p.Val840Leu) c.2473G>C (p.Val825Leu) c.2428G>C (p.Val810Leu) c.2497G>C (p.Val833Leu) c.2482G>C (p.Val828Leu) c.2461G>C (p.Val821Leu) c.2455G>C (p.Val819Leu) c.2410G>C (p.Val804Leu) c.2401G>C (p.Val801Leu) c.2377G>C (p.Val793Leu) c.2371G>C (p.Val791Leu) c.2344G>C (p.Val782Leu) c.2338G>C (p.Val780Leu) c.2332G>C (p.Val778Leu) c.2281G>C (p.Val761Leu) c.2200G>C (p.Val734Leu) c.2308-251G>C (n.2308-251G>C) c.2122G>C (p.Val708Leu) c.2208+1138G>C (n.2208+1138G>C) c.1342G>C (p.Val448Leu) n.2618G>C | dbSNP gnomAD v2 |
17 | g.39724798G= | CA2259228008 | ERBB2 | c.2380G= (p.Val794=) c.2290G= (p.Val764=) c.1552G= (p.Val518=) c.2335G= (p.Val779=) c.*2170G= (n.*2170G=) c.486G= n.3514G= n.2704G= c.2518G= (p.Val840=) c.2473G= (p.Val825=) c.2428G= (p.Val810=) c.2497G= (p.Val833=) c.2482G= (p.Val828=) c.2461G= (p.Val821=) c.2455G= (p.Val819=) c.2410G= (p.Val804=) c.2401G= (p.Val801=) c.2377G= (p.Val793=) c.2371G= (p.Val791=) c.2344G= (p.Val782=) c.2338G= (p.Val780=) c.2332G= (p.Val778=) c.2281G= (p.Val761=) c.2200G= (p.Val734=) c.2308-251G= (n.2308-251G=) c.2122G= (p.Val708=) c.2208+1138G= (n.2208+1138G=) c.1342G= (p.Val448=) n.2618G= | |
17 | g.39724798G>T | CA399303157 | ERBB2 | c.2380G>T (p.Val794Leu) c.2290G>T (p.Val764Leu) c.1552G>T (p.Val518Leu) c.2335G>T (p.Val779Leu) c.*2170G>T (n.*2170G>T) c.486G>T n.3514G>T n.2704G>T c.2518G>T (p.Val840Leu) c.2473G>T (p.Val825Leu) c.2428G>T (p.Val810Leu) c.2497G>T (p.Val833Leu) c.2482G>T (p.Val828Leu) c.2461G>T (p.Val821Leu) c.2455G>T (p.Val819Leu) c.2410G>T (p.Val804Leu) c.2401G>T (p.Val801Leu) c.2377G>T (p.Val793Leu) c.2371G>T (p.Val791Leu) c.2344G>T (p.Val782Leu) c.2338G>T (p.Val780Leu) c.2332G>T (p.Val778Leu) c.2281G>T (p.Val761Leu) c.2200G>T (p.Val734Leu) c.2308-251G>T (n.2308-251G>T) c.2122G>T (p.Val708Leu) c.2208+1138G>T (n.2208+1138G>T) c.1342G>T (p.Val448Leu) n.2618G>T | dbSNP |
17 | g.39724799T>A | CA399303161 | ERBB2 | c.2381T>A (p.Val794Glu) c.2291T>A (p.Val764Glu) c.1553T>A (p.Val518Glu) c.2336T>A (p.Val779Glu) c.*2171T>A (n.*2171T>A) c.487T>A n.3515T>A n.2705T>A c.2519T>A (p.Val840Glu) c.2474T>A (p.Val825Glu) c.2429T>A (p.Val810Glu) c.2498T>A (p.Val833Glu) c.2483T>A (p.Val828Glu) c.2462T>A (p.Val821Glu) c.2456T>A (p.Val819Glu) c.2411T>A (p.Val804Glu) c.2402T>A (p.Val801Glu) c.2378T>A (p.Val793Glu) c.2372T>A (p.Val791Glu) c.2345T>A (p.Val782Glu) c.2339T>A (p.Val780Glu) c.2333T>A (p.Val778Glu) c.2282T>A (p.Val761Glu) c.2201T>A (p.Val734Glu) c.2308-250T>A (n.2308-250T>A) c.2123T>A (p.Val708Glu) c.2208+1139T>A (n.2208+1139T>A) c.1343T>A (p.Val448Glu) n.2619T>A | dbSNP |
17 | g.39724799T>C | CA399303164 | ERBB2 | c.2381T>C (p.Val794Ala) c.2291T>C (p.Val764Ala) c.1553T>C (p.Val518Ala) c.2336T>C (p.Val779Ala) c.*2171T>C (n.*2171T>C) c.487T>C n.3515T>C n.2705T>C c.2519T>C (p.Val840Ala) c.2474T>C (p.Val825Ala) c.2429T>C (p.Val810Ala) c.2498T>C (p.Val833Ala) c.2483T>C (p.Val828Ala) c.2462T>C (p.Val821Ala) c.2456T>C (p.Val819Ala) c.2411T>C (p.Val804Ala) c.2402T>C (p.Val801Ala) c.2378T>C (p.Val793Ala) c.2372T>C (p.Val791Ala) c.2345T>C (p.Val782Ala) c.2339T>C (p.Val780Ala) c.2333T>C (p.Val778Ala) c.2282T>C (p.Val761Ala) c.2201T>C (p.Val734Ala) c.2308-250T>C (n.2308-250T>C) c.2123T>C (p.Val708Ala) c.2208+1139T>C (n.2208+1139T>C) c.1343T>C (p.Val448Ala) n.2619T>C | |
17 | g.39724799T>G | CA399303166 | ERBB2 | c.2381T>G (p.Val794Gly) c.2291T>G (p.Val764Gly) c.1553T>G (p.Val518Gly) c.2336T>G (p.Val779Gly) c.*2171T>G (n.*2171T>G) c.487T>G n.3515T>G n.2705T>G c.2519T>G (p.Val840Gly) c.2474T>G (p.Val825Gly) c.2429T>G (p.Val810Gly) c.2498T>G (p.Val833Gly) c.2483T>G (p.Val828Gly) c.2462T>G (p.Val821Gly) c.2456T>G (p.Val819Gly) c.2411T>G (p.Val804Gly) c.2402T>G (p.Val801Gly) c.2378T>G (p.Val793Gly) c.2372T>G (p.Val791Gly) c.2345T>G (p.Val782Gly) c.2339T>G (p.Val780Gly) c.2333T>G (p.Val778Gly) c.2282T>G (p.Val761Gly) c.2201T>G (p.Val734Gly) c.2308-250T>G (n.2308-250T>G) c.2123T>G (p.Val708Gly) c.2208+1139T>G (n.2208+1139T>G) c.1343T>G (p.Val448Gly) n.2619T>G | dbSNP |
17 | g.39724800G>A | CA499670887 | ERBB2 | c.2382G>A (p.Val794=) c.2292G>A (p.Val764=) c.1554G>A (p.Val518=) c.2337G>A (p.Val779=) c.*2172G>A (n.*2172G>A) c.488G>A n.3516G>A n.2706G>A c.2520G>A (p.Val840=) c.2475G>A (p.Val825=) c.2430G>A (p.Val810=) c.2499G>A (p.Val833=) c.2484G>A (p.Val828=) c.2463G>A (p.Val821=) c.2457G>A (p.Val819=) c.2412G>A (p.Val804=) c.2403G>A (p.Val801=) c.2379G>A (p.Val793=) c.2373G>A (p.Val791=) c.2346G>A (p.Val782=) c.2340G>A (p.Val780=) c.2334G>A (p.Val778=) c.2283G>A (p.Val761=) c.2202G>A (p.Val734=) c.2308-249G>A (n.2308-249G>A) c.2124G>A (p.Val708=) c.2208+1140G>A (n.2208+1140G>A) c.1344G>A (p.Val448=) n.2620G>A | dbSNP gnomAD v4 |
17 | g.39724800G>C | CA499670886 | ERBB2 | c.2382G>C (p.Val794=) c.2292G>C (p.Val764=) c.1554G>C (p.Val518=) c.2337G>C (p.Val779=) c.*2172G>C (n.*2172G>C) c.488G>C n.3516G>C n.2706G>C c.2520G>C (p.Val840=) c.2475G>C (p.Val825=) c.2430G>C (p.Val810=) c.2499G>C (p.Val833=) c.2484G>C (p.Val828=) c.2463G>C (p.Val821=) c.2457G>C (p.Val819=) c.2412G>C (p.Val804=) c.2403G>C (p.Val801=) c.2379G>C (p.Val793=) c.2373G>C (p.Val791=) c.2346G>C (p.Val782=) c.2340G>C (p.Val780=) c.2334G>C (p.Val778=) c.2283G>C (p.Val761=) c.2202G>C (p.Val734=) c.2308-249G>C (n.2308-249G>C) c.2124G>C (p.Val708=) c.2208+1140G>C (n.2208+1140G>C) c.1344G>C (p.Val448=) n.2620G>C | dbSNP |
17 | g.39724800G>T | CA499670885 | ERBB2 | c.2382G>T (p.Val794=) c.2292G>T (p.Val764=) c.1554G>T (p.Val518=) c.2337G>T (p.Val779=) c.*2172G>T (n.*2172G>T) c.488G>T n.3516G>T n.2706G>T c.2520G>T (p.Val840=) c.2475G>T (p.Val825=) c.2430G>T (p.Val810=) c.2499G>T (p.Val833=) c.2484G>T (p.Val828=) c.2463G>T (p.Val821=) c.2457G>T (p.Val819=) c.2412G>T (p.Val804=) c.2403G>T (p.Val801=) c.2379G>T (p.Val793=) c.2373G>T (p.Val791=) c.2346G>T (p.Val782=) c.2340G>T (p.Val780=) c.2334G>T (p.Val778=) c.2283G>T (p.Val761=) c.2202G>T (p.Val734=) c.2308-249G>T (n.2308-249G>T) c.2124G>T (p.Val708=) c.2208+1140G>T (n.2208+1140G>T) c.1344G>T (p.Val448=) n.2620G>T | |
17 | g.39724801C>A | CA399303170 | ERBB2 | c.2383C>A (p.Gln795Lys) c.2293C>A (p.Gln765Lys) c.1555C>A (p.Gln519Lys) c.2338C>A (p.Gln780Lys) c.*2173C>A (n.*2173C>A) c.489C>A n.3517C>A n.2707C>A c.2521C>A (p.Gln841Lys) c.2476C>A (p.Gln826Lys) c.2431C>A (p.Gln811Lys) c.2500C>A (p.Gln834Lys) c.2485C>A (p.Gln829Lys) c.2464C>A (p.Gln822Lys) c.2458C>A (p.Gln820Lys) c.2413C>A (p.Gln805Lys) c.2404C>A (p.Gln802Lys) c.2380C>A (p.Gln794Lys) c.2374C>A (p.Gln792Lys) c.2347C>A (p.Gln783Lys) c.2341C>A (p.Gln781Lys) c.2335C>A (p.Gln779Lys) c.2284C>A (p.Gln762Lys) c.2203C>A (p.Gln735Lys) c.2308-248C>A (n.2308-248C>A) c.2125C>A (p.Gln709Lys) c.2208+1141C>A (n.2208+1141C>A) c.1345C>A (p.Gln449Lys) n.2621C>A | dbSNP |
17 | g.39724801C= | CA2259228009 | ERBB2 | c.2383C= (p.Gln795=) c.2293C= (p.Gln765=) c.1555C= (p.Gln519=) c.2338C= (p.Gln780=) c.*2173C= (n.*2173C=) c.489C= n.3517C= n.2707C= c.2521C= (p.Gln841=) c.2476C= (p.Gln826=) c.2431C= (p.Gln811=) c.2500C= (p.Gln834=) c.2485C= (p.Gln829=) c.2464C= (p.Gln822=) c.2458C= (p.Gln820=) c.2413C= (p.Gln805=) c.2404C= (p.Gln802=) c.2380C= (p.Gln794=) c.2374C= (p.Gln792=) c.2347C= (p.Gln783=) c.2341C= (p.Gln781=) c.2335C= (p.Gln779=) c.2284C= (p.Gln762=) c.2203C= (p.Gln735=) c.2308-248C= (n.2308-248C=) c.2125C= (p.Gln709=) c.2208+1141C= (n.2208+1141C=) c.1345C= (p.Gln449=) n.2621C= | |
17 | g.39724801C>G | CA399303173 | ERBB2 | c.2383C>G (p.Gln795Glu) c.2293C>G (p.Gln765Glu) c.1555C>G (p.Gln519Glu) c.2338C>G (p.Gln780Glu) c.*2173C>G (n.*2173C>G) c.489C>G n.3517C>G n.2707C>G c.2521C>G (p.Gln841Glu) c.2476C>G (p.Gln826Glu) c.2431C>G (p.Gln811Glu) c.2500C>G (p.Gln834Glu) c.2485C>G (p.Gln829Glu) c.2464C>G (p.Gln822Glu) c.2458C>G (p.Gln820Glu) c.2413C>G (p.Gln805Glu) c.2404C>G (p.Gln802Glu) c.2380C>G (p.Gln794Glu) c.2374C>G (p.Gln792Glu) c.2347C>G (p.Gln783Glu) c.2341C>G (p.Gln781Glu) c.2335C>G (p.Gln779Glu) c.2284C>G (p.Gln762Glu) c.2203C>G (p.Gln735Glu) c.2308-248C>G (n.2308-248C>G) c.2125C>G (p.Gln709Glu) c.2208+1141C>G (n.2208+1141C>G) c.1345C>G (p.Gln449Glu) n.2621C>G | dbSNP |
17 | g.39724801C>T | CA290440556 | ERBB2 | c.2383C>T (p.Gln795Ter) c.2293C>T (p.Gln765Ter) c.1555C>T (p.Gln519Ter) c.2338C>T (p.Gln780Ter) c.*2173C>T (n.*2173C>T) c.489C>T n.3517C>T n.2707C>T c.2521C>T (p.Gln841Ter) c.2476C>T (p.Gln826Ter) c.2431C>T (p.Gln811Ter) c.2500C>T (p.Gln834Ter) c.2485C>T (p.Gln829Ter) c.2464C>T (p.Gln822Ter) c.2458C>T (p.Gln820Ter) c.2413C>T (p.Gln805Ter) c.2404C>T (p.Gln802Ter) c.2380C>T (p.Gln794Ter) c.2374C>T (p.Gln792Ter) c.2347C>T (p.Gln783Ter) c.2341C>T (p.Gln781Ter) c.2335C>T (p.Gln779Ter) c.2284C>T (p.Gln762Ter) c.2203C>T (p.Gln735Ter) c.2308-248C>T (n.2308-248C>T) c.2125C>T (p.Gln709Ter) c.2208+1141C>T (n.2208+1141C>T) c.1345C>T (p.Gln449Ter) n.2621C>T | dbSNP |
17 | g.39724802A= | CA2259228010 | ERBB2 | c.2384A= (p.Gln795=) c.2294A= (p.Gln765=) c.1556A= (p.Gln519=) c.2339A= (p.Gln780=) c.*2174A= (n.*2174A=) c.490A= n.3518A= n.2708A= c.2522A= (p.Gln841=) c.2477A= (p.Gln826=) c.2432A= (p.Gln811=) c.2501A= (p.Gln834=) c.2486A= (p.Gln829=) c.2465A= (p.Gln822=) c.2459A= (p.Gln820=) c.2414A= (p.Gln805=) c.2405A= (p.Gln802=) c.2381A= (p.Gln794=) c.2375A= (p.Gln792=) c.2348A= (p.Gln783=) c.2342A= (p.Gln781=) c.2336A= (p.Gln779=) c.2285A= (p.Gln762=) c.2204A= (p.Gln735=) c.2308-247A= (n.2308-247A=) c.2126A= (p.Gln709=) c.2208+1142A= (n.2208+1142A=) c.1346A= (p.Gln449=) n.2622A= | |
17 | g.39724802A>C | CA399303178 | ERBB2 | c.2384A>C (p.Gln795Pro) c.2294A>C (p.Gln765Pro) c.1556A>C (p.Gln519Pro) c.2339A>C (p.Gln780Pro) c.*2174A>C (n.*2174A>C) c.490A>C n.3518A>C n.2708A>C c.2522A>C (p.Gln841Pro) c.2477A>C (p.Gln826Pro) c.2432A>C (p.Gln811Pro) c.2501A>C (p.Gln834Pro) c.2486A>C (p.Gln829Pro) c.2465A>C (p.Gln822Pro) c.2459A>C (p.Gln820Pro) c.2414A>C (p.Gln805Pro) c.2405A>C (p.Gln802Pro) c.2381A>C (p.Gln794Pro) c.2375A>C (p.Gln792Pro) c.2348A>C (p.Gln783Pro) c.2342A>C (p.Gln781Pro) c.2336A>C (p.Gln779Pro) c.2285A>C (p.Gln762Pro) c.2204A>C (p.Gln735Pro) c.2308-247A>C (n.2308-247A>C) c.2126A>C (p.Gln709Pro) c.2208+1142A>C (n.2208+1142A>C) c.1346A>C (p.Gln449Pro) n.2622A>C | |
17 | g.39724802A>G | CA399303179 | ERBB2 | c.2384A>G (p.Gln795Arg) c.2294A>G (p.Gln765Arg) c.1556A>G (p.Gln519Arg) c.2339A>G (p.Gln780Arg) c.*2174A>G (n.*2174A>G) c.490A>G n.3518A>G n.2708A>G c.2522A>G (p.Gln841Arg) c.2477A>G (p.Gln826Arg) c.2432A>G (p.Gln811Arg) c.2501A>G (p.Gln834Arg) c.2486A>G (p.Gln829Arg) c.2465A>G (p.Gln822Arg) c.2459A>G (p.Gln820Arg) c.2414A>G (p.Gln805Arg) c.2405A>G (p.Gln802Arg) c.2381A>G (p.Gln794Arg) c.2375A>G (p.Gln792Arg) c.2348A>G (p.Gln783Arg) c.2342A>G (p.Gln781Arg) c.2336A>G (p.Gln779Arg) c.2285A>G (p.Gln762Arg) c.2204A>G (p.Gln735Arg) c.2308-247A>G (n.2308-247A>G) c.2126A>G (p.Gln709Arg) c.2208+1142A>G (n.2208+1142A>G) c.1346A>G (p.Gln449Arg) n.2622A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.39724802A>T | CA399303183 | ERBB2 | c.2384A>T (p.Gln795Leu) c.2294A>T (p.Gln765Leu) c.1556A>T (p.Gln519Leu) c.2339A>T (p.Gln780Leu) c.*2174A>T (n.*2174A>T) c.490A>T n.3518A>T n.2708A>T c.2522A>T (p.Gln841Leu) c.2477A>T (p.Gln826Leu) c.2432A>T (p.Gln811Leu) c.2501A>T (p.Gln834Leu) c.2486A>T (p.Gln829Leu) c.2465A>T (p.Gln822Leu) c.2459A>T (p.Gln820Leu) c.2414A>T (p.Gln805Leu) c.2405A>T (p.Gln802Leu) c.2381A>T (p.Gln794Leu) c.2375A>T (p.Gln792Leu) c.2348A>T (p.Gln783Leu) c.2342A>T (p.Gln781Leu) c.2336A>T (p.Gln779Leu) c.2285A>T (p.Gln762Leu) c.2204A>T (p.Gln735Leu) c.2308-247A>T (n.2308-247A>T) c.2126A>T (p.Gln709Leu) c.2208+1142A>T (n.2208+1142A>T) c.1346A>T (p.Gln449Leu) n.2622A>T | dbSNP |
17 | g.39724803G>A | CA8534290 | ERBB2 | c.2385G>A (p.Gln795=) c.2295G>A (p.Gln765=) c.1557G>A (p.Gln519=) c.2340G>A (p.Gln780=) c.*2175G>A (n.*2175G>A) c.491G>A n.3519G>A n.2709G>A c.2523G>A (p.Gln841=) c.2478G>A (p.Gln826=) c.2433G>A (p.Gln811=) c.2502G>A (p.Gln834=) c.2487G>A (p.Gln829=) c.2466G>A (p.Gln822=) c.2460G>A (p.Gln820=) c.2415G>A (p.Gln805=) c.2406G>A (p.Gln802=) c.2382G>A (p.Gln794=) c.2376G>A (p.Gln792=) c.2349G>A (p.Gln783=) c.2343G>A (p.Gln781=) c.2337G>A (p.Gln779=) c.2286G>A (p.Gln762=) c.2205G>A (p.Gln735=) c.2308-246G>A (n.2308-246G>A) c.2127G>A (p.Gln709=) c.2208+1143G>A (n.2208+1143G>A) c.1347G>A (p.Gln449=) n.2623G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724803G>C | CA399303187 | ERBB2 | c.2385G>C (p.Gln795His) c.2295G>C (p.Gln765His) c.1557G>C (p.Gln519His) c.2340G>C (p.Gln780His) c.*2175G>C (n.*2175G>C) c.491G>C n.3519G>C n.2709G>C c.2523G>C (p.Gln841His) c.2478G>C (p.Gln826His) c.2433G>C (p.Gln811His) c.2502G>C (p.Gln834His) c.2487G>C (p.Gln829His) c.2466G>C (p.Gln822His) c.2460G>C (p.Gln820His) c.2415G>C (p.Gln805His) c.2406G>C (p.Gln802His) c.2382G>C (p.Gln794His) c.2376G>C (p.Gln792His) c.2349G>C (p.Gln783His) c.2343G>C (p.Gln781His) c.2337G>C (p.Gln779His) c.2286G>C (p.Gln762His) c.2205G>C (p.Gln735His) c.2308-246G>C (n.2308-246G>C) c.2127G>C (p.Gln709His) c.2208+1143G>C (n.2208+1143G>C) c.1347G>C (p.Gln449His) n.2623G>C | |
17 | g.39724803G= | CA2259228011 | ERBB2 | c.2385G= (p.Gln795=) c.2295G= (p.Gln765=) c.1557G= (p.Gln519=) c.2340G= (p.Gln780=) c.*2175G= (n.*2175G=) c.491G= n.3519G= n.2709G= c.2523G= (p.Gln841=) c.2478G= (p.Gln826=) c.2433G= (p.Gln811=) c.2502G= (p.Gln834=) c.2487G= (p.Gln829=) c.2466G= (p.Gln822=) c.2460G= (p.Gln820=) c.2415G= (p.Gln805=) c.2406G= (p.Gln802=) c.2382G= (p.Gln794=) c.2376G= (p.Gln792=) c.2349G= (p.Gln783=) c.2343G= (p.Gln781=) c.2337G= (p.Gln779=) c.2286G= (p.Gln762=) c.2205G= (p.Gln735=) c.2308-246G= (n.2308-246G=) c.2127G= (p.Gln709=) c.2208+1143G= (n.2208+1143G=) c.1347G= (p.Gln449=) n.2623G= | |
17 | g.39724803G>T | CA399303189 | ERBB2 | c.2385G>T (p.Gln795His) c.2295G>T (p.Gln765His) c.1557G>T (p.Gln519His) c.2340G>T (p.Gln780His) c.*2175G>T (n.*2175G>T) c.491G>T n.3519G>T n.2709G>T c.2523G>T (p.Gln841His) c.2478G>T (p.Gln826His) c.2433G>T (p.Gln811His) c.2502G>T (p.Gln834His) c.2487G>T (p.Gln829His) c.2466G>T (p.Gln822His) c.2460G>T (p.Gln820His) c.2415G>T (p.Gln805His) c.2406G>T (p.Gln802His) c.2382G>T (p.Gln794His) c.2376G>T (p.Gln792His) c.2349G>T (p.Gln783His) c.2343G>T (p.Gln781His) c.2337G>T (p.Gln779His) c.2286G>T (p.Gln762His) c.2205G>T (p.Gln735His) c.2308-246G>T (n.2308-246G>T) c.2127G>T (p.Gln709His) c.2208+1143G>T (n.2208+1143G>T) c.1347G>T (p.Gln449His) n.2623G>T | dbSNP |
17 | g.39724804C>A | CA399303194 | ERBB2 | c.2386C>A (p.Leu796Met) c.2296C>A (p.Leu766Met) c.1558C>A (p.Leu520Met) c.2341C>A (p.Leu781Met) c.*2176C>A (n.*2176C>A) c.492C>A n.3520C>A n.2710C>A c.2524C>A (p.Leu842Met) c.2479C>A (p.Leu827Met) c.2434C>A (p.Leu812Met) c.2503C>A (p.Leu835Met) c.2488C>A (p.Leu830Met) c.2467C>A (p.Leu823Met) c.2461C>A (p.Leu821Met) c.2416C>A (p.Leu806Met) c.2407C>A (p.Leu803Met) c.2383C>A (p.Leu795Met) c.2377C>A (p.Leu793Met) c.2350C>A (p.Leu784Met) c.2344C>A (p.Leu782Met) c.2338C>A (p.Leu780Met) c.2287C>A (p.Leu763Met) c.2206C>A (p.Leu736Met) c.2308-245C>A (n.2308-245C>A) c.2128C>A (p.Leu710Met) c.2208+1144C>A (n.2208+1144C>A) c.1348C>A (p.Leu450Met) n.2624C>A | dbSNP |
17 | g.39724804C= | CA2259228012 | ERBB2 | c.2386C= (p.Leu796=) c.2296C= (p.Leu766=) c.1558C= (p.Leu520=) c.2341C= (p.Leu781=) c.*2176C= (n.*2176C=) c.492C= n.3520C= n.2710C= c.2524C= (p.Leu842=) c.2479C= (p.Leu827=) c.2434C= (p.Leu812=) c.2503C= (p.Leu835=) c.2488C= (p.Leu830=) c.2467C= (p.Leu823=) c.2461C= (p.Leu821=) c.2416C= (p.Leu806=) c.2407C= (p.Leu803=) c.2383C= (p.Leu795=) c.2377C= (p.Leu793=) c.2350C= (p.Leu784=) c.2344C= (p.Leu782=) c.2338C= (p.Leu780=) c.2287C= (p.Leu763=) c.2206C= (p.Leu736=) c.2308-245C= (n.2308-245C=) c.2128C= (p.Leu710=) c.2208+1144C= (n.2208+1144C=) c.1348C= (p.Leu450=) n.2624C= | |
17 | g.39724804C>G | CA399303197 | ERBB2 | c.2386C>G (p.Leu796Val) c.2296C>G (p.Leu766Val) c.1558C>G (p.Leu520Val) c.2341C>G (p.Leu781Val) c.*2176C>G (n.*2176C>G) c.492C>G n.3520C>G n.2710C>G c.2524C>G (p.Leu842Val) c.2479C>G (p.Leu827Val) c.2434C>G (p.Leu812Val) c.2503C>G (p.Leu835Val) c.2488C>G (p.Leu830Val) c.2467C>G (p.Leu823Val) c.2461C>G (p.Leu821Val) c.2416C>G (p.Leu806Val) c.2407C>G (p.Leu803Val) c.2383C>G (p.Leu795Val) c.2377C>G (p.Leu793Val) c.2350C>G (p.Leu784Val) c.2344C>G (p.Leu782Val) c.2338C>G (p.Leu780Val) c.2287C>G (p.Leu763Val) c.2206C>G (p.Leu736Val) c.2308-245C>G (n.2308-245C>G) c.2128C>G (p.Leu710Val) c.2208+1144C>G (n.2208+1144C>G) c.1348C>G (p.Leu450Val) n.2624C>G | dbSNP |
17 | g.39724804C>T | CA499670888 | ERBB2 | c.2386C>T (p.Leu796=) c.2296C>T (p.Leu766=) c.1558C>T (p.Leu520=) c.2341C>T (p.Leu781=) c.*2176C>T (n.*2176C>T) c.492C>T n.3520C>T n.2710C>T c.2524C>T (p.Leu842=) c.2479C>T (p.Leu827=) c.2434C>T (p.Leu812=) c.2503C>T (p.Leu835=) c.2488C>T (p.Leu830=) c.2467C>T (p.Leu823=) c.2461C>T (p.Leu821=) c.2416C>T (p.Leu806=) c.2407C>T (p.Leu803=) c.2383C>T (p.Leu795=) c.2377C>T (p.Leu793=) c.2350C>T (p.Leu784=) c.2344C>T (p.Leu782=) c.2338C>T (p.Leu780=) c.2287C>T (p.Leu763=) c.2206C>T (p.Leu736=) c.2308-245C>T (n.2308-245C>T) c.2128C>T (p.Leu710=) c.2208+1144C>T (n.2208+1144C>T) c.1348C>T (p.Leu450=) n.2624C>T | dbSNP |
17 | g.39724805T>A | CA399303200 | ERBB2 | c.2387T>A (p.Leu796Gln) c.2297T>A (p.Leu766Gln) c.1559T>A (p.Leu520Gln) c.2342T>A (p.Leu781Gln) c.*2177T>A (n.*2177T>A) c.493T>A n.3521T>A n.2711T>A c.2525T>A (p.Leu842Gln) c.2480T>A (p.Leu827Gln) c.2435T>A (p.Leu812Gln) c.2504T>A (p.Leu835Gln) c.2489T>A (p.Leu830Gln) c.2468T>A (p.Leu823Gln) c.2462T>A (p.Leu821Gln) c.2417T>A (p.Leu806Gln) c.2408T>A (p.Leu803Gln) c.2384T>A (p.Leu795Gln) c.2378T>A (p.Leu793Gln) c.2351T>A (p.Leu784Gln) c.2345T>A (p.Leu782Gln) c.2339T>A (p.Leu780Gln) c.2288T>A (p.Leu763Gln) c.2207T>A (p.Leu736Gln) c.2308-244T>A (n.2308-244T>A) c.2129T>A (p.Leu710Gln) c.2208+1145T>A (n.2208+1145T>A) c.1349T>A (p.Leu450Gln) n.2625T>A | |
17 | g.39724805T>C | CA399303202 | ERBB2 | c.2387T>C (p.Leu796Pro) c.2297T>C (p.Leu766Pro) c.1559T>C (p.Leu520Pro) c.2342T>C (p.Leu781Pro) c.*2177T>C (n.*2177T>C) c.493T>C n.3521T>C n.2711T>C c.2525T>C (p.Leu842Pro) c.2480T>C (p.Leu827Pro) c.2435T>C (p.Leu812Pro) c.2504T>C (p.Leu835Pro) c.2489T>C (p.Leu830Pro) c.2468T>C (p.Leu823Pro) c.2462T>C (p.Leu821Pro) c.2417T>C (p.Leu806Pro) c.2408T>C (p.Leu803Pro) c.2384T>C (p.Leu795Pro) c.2378T>C (p.Leu793Pro) c.2351T>C (p.Leu784Pro) c.2345T>C (p.Leu782Pro) c.2339T>C (p.Leu780Pro) c.2288T>C (p.Leu763Pro) c.2207T>C (p.Leu736Pro) c.2308-244T>C (n.2308-244T>C) c.2129T>C (p.Leu710Pro) c.2208+1145T>C (n.2208+1145T>C) c.1349T>C (p.Leu450Pro) n.2625T>C | |
17 | g.39724805T>G | CA399303204 | ERBB2 | c.2387T>G (p.Leu796Arg) c.2297T>G (p.Leu766Arg) c.1559T>G (p.Leu520Arg) c.2342T>G (p.Leu781Arg) c.*2177T>G (n.*2177T>G) c.493T>G n.3521T>G n.2711T>G c.2525T>G (p.Leu842Arg) c.2480T>G (p.Leu827Arg) c.2435T>G (p.Leu812Arg) c.2504T>G (p.Leu835Arg) c.2489T>G (p.Leu830Arg) c.2468T>G (p.Leu823Arg) c.2462T>G (p.Leu821Arg) c.2417T>G (p.Leu806Arg) c.2408T>G (p.Leu803Arg) c.2384T>G (p.Leu795Arg) c.2378T>G (p.Leu793Arg) c.2351T>G (p.Leu784Arg) c.2345T>G (p.Leu782Arg) c.2339T>G (p.Leu780Arg) c.2288T>G (p.Leu763Arg) c.2207T>G (p.Leu736Arg) c.2308-244T>G (n.2308-244T>G) c.2129T>G (p.Leu710Arg) c.2208+1145T>G (n.2208+1145T>G) c.1349T>G (p.Leu450Arg) n.2625T>G | |
17 | g.39724806G>A | CA499670889 | ERBB2 | c.2388G>A (p.Leu796=) c.2298G>A (p.Leu766=) c.1560G>A (p.Leu520=) c.2343G>A (p.Leu781=) c.*2178G>A (n.*2178G>A) c.494G>A n.3522G>A n.2712G>A c.2526G>A (p.Leu842=) c.2481G>A (p.Leu827=) c.2436G>A (p.Leu812=) c.2505G>A (p.Leu835=) c.2490G>A (p.Leu830=) c.2469G>A (p.Leu823=) c.2463G>A (p.Leu821=) c.2418G>A (p.Leu806=) c.2409G>A (p.Leu803=) c.2385G>A (p.Leu795=) c.2379G>A (p.Leu793=) c.2352G>A (p.Leu784=) c.2346G>A (p.Leu782=) c.2340G>A (p.Leu780=) c.2289G>A (p.Leu763=) c.2208G>A (p.Leu736=) c.2308-243G>A (n.2308-243G>A) c.2130G>A (p.Leu710=) c.2208+1146G>A (n.2208+1146G>A) c.1350G>A (p.Leu450=) n.2626G>A | dbSNP |
17 | g.39724806G>C | CA499670890 | ERBB2 | c.2388G>C (p.Leu796=) c.2298G>C (p.Leu766=) c.1560G>C (p.Leu520=) c.2343G>C (p.Leu781=) c.*2178G>C (n.*2178G>C) c.494G>C n.3522G>C n.2712G>C c.2526G>C (p.Leu842=) c.2481G>C (p.Leu827=) c.2436G>C (p.Leu812=) c.2505G>C (p.Leu835=) c.2490G>C (p.Leu830=) c.2469G>C (p.Leu823=) c.2463G>C (p.Leu821=) c.2418G>C (p.Leu806=) c.2409G>C (p.Leu803=) c.2385G>C (p.Leu795=) c.2379G>C (p.Leu793=) c.2352G>C (p.Leu784=) c.2346G>C (p.Leu782=) c.2340G>C (p.Leu780=) c.2289G>C (p.Leu763=) c.2208G>C (p.Leu736=) c.2308-243G>C (n.2308-243G>C) c.2130G>C (p.Leu710=) c.2208+1146G>C (n.2208+1146G>C) c.1350G>C (p.Leu450=) n.2626G>C | dbSNP |
17 | g.39724806G>T | CA499670891 | ERBB2 | c.2388G>T (p.Leu796=) c.2298G>T (p.Leu766=) c.1560G>T (p.Leu520=) c.2343G>T (p.Leu781=) c.*2178G>T (n.*2178G>T) c.494G>T n.3522G>T n.2712G>T c.2526G>T (p.Leu842=) c.2481G>T (p.Leu827=) c.2436G>T (p.Leu812=) c.2505G>T (p.Leu835=) c.2490G>T (p.Leu830=) c.2469G>T (p.Leu823=) c.2463G>T (p.Leu821=) c.2418G>T (p.Leu806=) c.2409G>T (p.Leu803=) c.2385G>T (p.Leu795=) c.2379G>T (p.Leu793=) c.2352G>T (p.Leu784=) c.2346G>T (p.Leu782=) c.2340G>T (p.Leu780=) c.2289G>T (p.Leu763=) c.2208G>T (p.Leu736=) c.2308-243G>T (n.2308-243G>T) c.2130G>T (p.Leu710=) c.2208+1146G>T (n.2208+1146G>T) c.1350G>T (p.Leu450=) n.2626G>T | dbSNP |
17 | g.39724807G>A | CA399303214 | ERBB2 | c.2389G>A (p.Val797Met) c.2299G>A (p.Val767Met) c.1561G>A (p.Val521Met) c.2344G>A (p.Val782Met) c.*2179G>A (n.*2179G>A) c.495G>A n.3523G>A n.2713G>A c.2527G>A (p.Val843Met) c.2482G>A (p.Val828Met) c.2437G>A (p.Val813Met) c.2506G>A (p.Val836Met) c.2491G>A (p.Val831Met) c.2470G>A (p.Val824Met) c.2464G>A (p.Val822Met) c.2419G>A (p.Val807Met) c.2410G>A (p.Val804Met) c.2386G>A (p.Val796Met) c.2380G>A (p.Val794Met) c.2353G>A (p.Val785Met) c.2347G>A (p.Val783Met) c.2341G>A (p.Val781Met) c.2290G>A (p.Val764Met) c.2209G>A (p.Val737Met) c.2308-242G>A (n.2308-242G>A) c.2131G>A (p.Val711Met) c.2208+1147G>A (n.2208+1147G>A) c.1351G>A (p.Val451Met) n.2627G>A | dbSNP COSMIC |
17 | g.39724807G>C | CA399303212 | ERBB2 | c.2389G>C (p.Val797Leu) c.2299G>C (p.Val767Leu) c.1561G>C (p.Val521Leu) c.2344G>C (p.Val782Leu) c.*2179G>C (n.*2179G>C) c.495G>C n.3523G>C n.2713G>C c.2527G>C (p.Val843Leu) c.2482G>C (p.Val828Leu) c.2437G>C (p.Val813Leu) c.2506G>C (p.Val836Leu) c.2491G>C (p.Val831Leu) c.2470G>C (p.Val824Leu) c.2464G>C (p.Val822Leu) c.2419G>C (p.Val807Leu) c.2410G>C (p.Val804Leu) c.2386G>C (p.Val796Leu) c.2380G>C (p.Val794Leu) c.2353G>C (p.Val785Leu) c.2347G>C (p.Val783Leu) c.2341G>C (p.Val781Leu) c.2290G>C (p.Val764Leu) c.2209G>C (p.Val737Leu) c.2308-242G>C (n.2308-242G>C) c.2131G>C (p.Val711Leu) c.2208+1147G>C (n.2208+1147G>C) c.1351G>C (p.Val451Leu) n.2627G>C | dbSNP |
17 | g.39724807G>T | CA399303209 | ERBB2 | c.2389G>T (p.Val797Leu) c.2299G>T (p.Val767Leu) c.1561G>T (p.Val521Leu) c.2344G>T (p.Val782Leu) c.*2179G>T (n.*2179G>T) c.495G>T n.3523G>T n.2713G>T c.2527G>T (p.Val843Leu) c.2482G>T (p.Val828Leu) c.2437G>T (p.Val813Leu) c.2506G>T (p.Val836Leu) c.2491G>T (p.Val831Leu) c.2470G>T (p.Val824Leu) c.2464G>T (p.Val822Leu) c.2419G>T (p.Val807Leu) c.2410G>T (p.Val804Leu) c.2386G>T (p.Val796Leu) c.2380G>T (p.Val794Leu) c.2353G>T (p.Val785Leu) c.2347G>T (p.Val783Leu) c.2341G>T (p.Val781Leu) c.2290G>T (p.Val764Leu) c.2209G>T (p.Val737Leu) c.2308-242G>T (n.2308-242G>T) c.2131G>T (p.Val711Leu) c.2208+1147G>T (n.2208+1147G>T) c.1351G>T (p.Val451Leu) n.2627G>T | dbSNP |
17 | g.39724807_39724819delinsGTGACACAGCTTA | CA2259228013 | ERBB2 | c.2389_2401delinsGTGACACAGCTTA (p.Val797=) c.2299_2311delinsGTGACACAGCTTA (p.Val767=) c.1561_1573delinsGTGACACAGCTTA (p.Val521=) c.2344_2356delinsGTGACACAGCTTA (p.Val782=) c.*2179_*2191delinsGTGACACAGCTTA (n.*2179_*2191delinsGTGACACAGCTTA) c.495_507delinsGTGACACAGCTTA n.3523_3535delinsGTGACACAGCTTA n.2713_2725delinsGTGACACAGCTTA c.2527_2539delinsGTGACACAGCTTA (p.Val843=) c.2482_2494delinsGTGACACAGCTTA (p.Val828=) c.2437_2449delinsGTGACACAGCTTA (p.Val813=) c.2506_2518delinsGTGACACAGCTTA (p.Val836=) c.2491_2503delinsGTGACACAGCTTA (p.Val831=) c.2470_2482delinsGTGACACAGCTTA (p.Val824=) c.2464_2476delinsGTGACACAGCTTA (p.Val822=) c.2419_2431delinsGTGACACAGCTTA (p.Val807=) c.2410_2422delinsGTGACACAGCTTA (p.Val804=) c.2386_2398delinsGTGACACAGCTTA (p.Val796=) c.2380_2392delinsGTGACACAGCTTA (p.Val794=) c.2353_2365delinsGTGACACAGCTTA (p.Val785=) c.2347_2359delinsGTGACACAGCTTA (p.Val783=) c.2341_2353delinsGTGACACAGCTTA (p.Val781=) c.2290_2302delinsGTGACACAGCTTA (p.Val764=) c.2209_2221delinsGTGACACAGCTTA (p.Val737=) c.2308-242_2308-230delinsGTGACACAGCTTA (n.2308-242_2308-230delinsGTGACACAGCTTA) c.2131_2143delinsGTGACACAGCTTA (p.Val711=) c.2208+1147_2208+1159delinsGTGACACAGCTTA (n.2208+1147_2208+1159delinsGTGACACAGCTTA) c.1351_1363delinsGTGACACAGCTTA (p.Val451=) n.2627_2639delinsGTGACACAGCTTA | |
17 | g.39724808T>A | CA399303218 | ERBB2 | c.2390T>A (p.Val797Glu) c.2300T>A (p.Val767Glu) c.1562T>A (p.Val521Glu) c.2345T>A (p.Val782Glu) c.*2180T>A (n.*2180T>A) c.496T>A n.3524T>A n.2714T>A c.2528T>A (p.Val843Glu) c.2483T>A (p.Val828Glu) c.2438T>A (p.Val813Glu) c.2507T>A (p.Val836Glu) c.2492T>A (p.Val831Glu) c.2471T>A (p.Val824Glu) c.2465T>A (p.Val822Glu) c.2420T>A (p.Val807Glu) c.2411T>A (p.Val804Glu) c.2387T>A (p.Val796Glu) c.2381T>A (p.Val794Glu) c.2354T>A (p.Val785Glu) c.2348T>A (p.Val783Glu) c.2342T>A (p.Val781Glu) c.2291T>A (p.Val764Glu) c.2210T>A (p.Val737Glu) c.2308-241T>A (n.2308-241T>A) c.2132T>A (p.Val711Glu) c.2208+1148T>A (n.2208+1148T>A) c.1352T>A (p.Val451Glu) n.2628T>A | dbSNP |
17 | g.39724808T>C | CA399303221 | ERBB2 | c.2390T>C (p.Val797Ala) c.2300T>C (p.Val767Ala) c.1562T>C (p.Val521Ala) c.2345T>C (p.Val782Ala) c.*2180T>C (n.*2180T>C) c.496T>C n.3524T>C n.2714T>C c.2528T>C (p.Val843Ala) c.2483T>C (p.Val828Ala) c.2438T>C (p.Val813Ala) c.2507T>C (p.Val836Ala) c.2492T>C (p.Val831Ala) c.2471T>C (p.Val824Ala) c.2465T>C (p.Val822Ala) c.2420T>C (p.Val807Ala) c.2411T>C (p.Val804Ala) c.2387T>C (p.Val796Ala) c.2381T>C (p.Val794Ala) c.2354T>C (p.Val785Ala) c.2348T>C (p.Val783Ala) c.2342T>C (p.Val781Ala) c.2291T>C (p.Val764Ala) c.2210T>C (p.Val737Ala) c.2308-241T>C (n.2308-241T>C) c.2132T>C (p.Val711Ala) c.2208+1148T>C (n.2208+1148T>C) c.1352T>C (p.Val451Ala) n.2628T>C | dbSNP COSMIC COSMIC |
17 | g.39724808T>G | CA399303223 | ERBB2 | c.2390T>G (p.Val797Gly) c.2300T>G (p.Val767Gly) c.1562T>G (p.Val521Gly) c.2345T>G (p.Val782Gly) c.*2180T>G (n.*2180T>G) c.496T>G n.3524T>G n.2714T>G c.2528T>G (p.Val843Gly) c.2483T>G (p.Val828Gly) c.2438T>G (p.Val813Gly) c.2507T>G (p.Val836Gly) c.2492T>G (p.Val831Gly) c.2471T>G (p.Val824Gly) c.2465T>G (p.Val822Gly) c.2420T>G (p.Val807Gly) c.2411T>G (p.Val804Gly) c.2387T>G (p.Val796Gly) c.2381T>G (p.Val794Gly) c.2354T>G (p.Val785Gly) c.2348T>G (p.Val783Gly) c.2342T>G (p.Val781Gly) c.2291T>G (p.Val764Gly) c.2210T>G (p.Val737Gly) c.2308-241T>G (n.2308-241T>G) c.2132T>G (p.Val711Gly) c.2208+1148T>G (n.2208+1148T>G) c.1352T>G (p.Val451Gly) n.2628T>G | dbSNP |
17 | g.39724810_39724821del | CA8534291 | ERBB2 | c.2392_2403del (p.Thr798_Met801del) c.2302_2313del (p.Thr768_Met771del) c.1564_1575del (p.Thr522_Met525del) c.2347_2358del (p.Thr783_Met786del) c.*2182_*2193del (n.*2182_*2193del) c.498_509del n.3526_3537del n.2716_2727del c.2530_2541del (p.Thr844_Met847del) c.2485_2496del (p.Thr829_Met832del) c.2440_2451del (p.Thr814_Met817del) c.2509_2520del (p.Thr837_Met840del) c.2494_2505del (p.Thr832_Met835del) c.2473_2484del (p.Thr825_Met828del) c.2467_2478del (p.Thr823_Met826del) c.2422_2433del (p.Thr808_Met811del) c.2413_2424del (p.Thr805_Met808del) c.2389_2400del (p.Thr797_Met800del) c.2383_2394del (p.Thr795_Met798del) c.2356_2367del (p.Thr786_Met789del) c.2350_2361del (p.Thr784_Met787del) c.2344_2355del (p.Thr782_Met785del) c.2293_2304del (p.Thr765_Met768del) c.2212_2223del (p.Thr738_Met741del) c.2308-239_2308-228del (n.2308-239_2308-228del) c.2134_2145del (p.Thr712_Met715del) c.2208+1150_2208+1161del (n.2208+1150_2208+1161del) c.1354_1365del (p.Thr452_Met455del) n.2630_2641del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724809G>A | CA8534292 | ERBB2 | c.2391G>A (p.Val797=) c.2301G>A (p.Val767=) c.1563G>A (p.Val521=) c.2346G>A (p.Val782=) c.*2181G>A (n.*2181G>A) c.497G>A n.3525G>A n.2715G>A c.2529G>A (p.Val843=) c.2484G>A (p.Val828=) c.2439G>A (p.Val813=) c.2508G>A (p.Val836=) c.2493G>A (p.Val831=) c.2472G>A (p.Val824=) c.2466G>A (p.Val822=) c.2421G>A (p.Val807=) c.2412G>A (p.Val804=) c.2388G>A (p.Val796=) c.2382G>A (p.Val794=) c.2355G>A (p.Val785=) c.2349G>A (p.Val783=) c.2343G>A (p.Val781=) c.2292G>A (p.Val764=) c.2211G>A (p.Val737=) c.2308-240G>A (n.2308-240G>A) c.2133G>A (p.Val711=) c.2208+1149G>A (n.2208+1149G>A) c.1353G>A (p.Val451=) n.2629G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724809G>C | CA499670892 | ERBB2 | c.2391G>C (p.Val797=) c.2301G>C (p.Val767=) c.1563G>C (p.Val521=) c.2346G>C (p.Val782=) c.*2181G>C (n.*2181G>C) c.497G>C n.3525G>C n.2715G>C c.2529G>C (p.Val843=) c.2484G>C (p.Val828=) c.2439G>C (p.Val813=) c.2508G>C (p.Val836=) c.2493G>C (p.Val831=) c.2472G>C (p.Val824=) c.2466G>C (p.Val822=) c.2421G>C (p.Val807=) c.2412G>C (p.Val804=) c.2388G>C (p.Val796=) c.2382G>C (p.Val794=) c.2355G>C (p.Val785=) c.2349G>C (p.Val783=) c.2343G>C (p.Val781=) c.2292G>C (p.Val764=) c.2211G>C (p.Val737=) c.2308-240G>C (n.2308-240G>C) c.2133G>C (p.Val711=) c.2208+1149G>C (n.2208+1149G>C) c.1353G>C (p.Val451=) n.2629G>C | |
17 | g.39724809G= | CA2259228014 | ERBB2 | c.2391G= (p.Val797=) c.2301G= (p.Val767=) c.1563G= (p.Val521=) c.2346G= (p.Val782=) c.*2181G= (n.*2181G=) c.497G= n.3525G= n.2715G= c.2529G= (p.Val843=) c.2484G= (p.Val828=) c.2439G= (p.Val813=) c.2508G= (p.Val836=) c.2493G= (p.Val831=) c.2472G= (p.Val824=) c.2466G= (p.Val822=) c.2421G= (p.Val807=) c.2412G= (p.Val804=) c.2388G= (p.Val796=) c.2382G= (p.Val794=) c.2355G= (p.Val785=) c.2349G= (p.Val783=) c.2343G= (p.Val781=) c.2292G= (p.Val764=) c.2211G= (p.Val737=) c.2308-240G= (n.2308-240G=) c.2133G= (p.Val711=) c.2208+1149G= (n.2208+1149G=) c.1353G= (p.Val451=) n.2629G= | |
17 | g.39724809G>T | CA499670893 | ERBB2 | c.2391G>T (p.Val797=) c.2301G>T (p.Val767=) c.1563G>T (p.Val521=) c.2346G>T (p.Val782=) c.*2181G>T (n.*2181G>T) c.497G>T n.3525G>T n.2715G>T c.2529G>T (p.Val843=) c.2484G>T (p.Val828=) c.2439G>T (p.Val813=) c.2508G>T (p.Val836=) c.2493G>T (p.Val831=) c.2472G>T (p.Val824=) c.2466G>T (p.Val822=) c.2421G>T (p.Val807=) c.2412G>T (p.Val804=) c.2388G>T (p.Val796=) c.2382G>T (p.Val794=) c.2355G>T (p.Val785=) c.2349G>T (p.Val783=) c.2343G>T (p.Val781=) c.2292G>T (p.Val764=) c.2211G>T (p.Val737=) c.2308-240G>T (n.2308-240G>T) c.2133G>T (p.Val711=) c.2208+1149G>T (n.2208+1149G>T) c.1353G>T (p.Val451=) n.2629G>T | |
17 | g.39724810A>C | CA399303233 | ERBB2 | c.2392A>C (p.Thr798Pro) c.2302A>C (p.Thr768Pro) c.1564A>C (p.Thr522Pro) c.2347A>C (p.Thr783Pro) c.*2182A>C (n.*2182A>C) c.498A>C n.3526A>C n.2716A>C c.2530A>C (p.Thr844Pro) c.2485A>C (p.Thr829Pro) c.2440A>C (p.Thr814Pro) c.2509A>C (p.Thr837Pro) c.2494A>C (p.Thr832Pro) c.2473A>C (p.Thr825Pro) c.2467A>C (p.Thr823Pro) c.2422A>C (p.Thr808Pro) c.2413A>C (p.Thr805Pro) c.2389A>C (p.Thr797Pro) c.2383A>C (p.Thr795Pro) c.2356A>C (p.Thr786Pro) c.2350A>C (p.Thr784Pro) c.2344A>C (p.Thr782Pro) c.2293A>C (p.Thr765Pro) c.2212A>C (p.Thr738Pro) c.2308-239A>C (n.2308-239A>C) c.2134A>C (p.Thr712Pro) c.2208+1150A>C (n.2208+1150A>C) c.1354A>C (p.Thr452Pro) n.2630A>C | dbSNP |
17 | g.39724810A>G | CA399303231 | ERBB2 | c.2392A>G (p.Thr798Ala) c.2302A>G (p.Thr768Ala) c.1564A>G (p.Thr522Ala) c.2347A>G (p.Thr783Ala) c.*2182A>G (n.*2182A>G) c.498A>G n.3526A>G n.2716A>G c.2530A>G (p.Thr844Ala) c.2485A>G (p.Thr829Ala) c.2440A>G (p.Thr814Ala) c.2509A>G (p.Thr837Ala) c.2494A>G (p.Thr832Ala) c.2473A>G (p.Thr825Ala) c.2467A>G (p.Thr823Ala) c.2422A>G (p.Thr808Ala) c.2413A>G (p.Thr805Ala) c.2389A>G (p.Thr797Ala) c.2383A>G (p.Thr795Ala) c.2356A>G (p.Thr786Ala) c.2350A>G (p.Thr784Ala) c.2344A>G (p.Thr782Ala) c.2293A>G (p.Thr765Ala) c.2212A>G (p.Thr738Ala) c.2308-239A>G (n.2308-239A>G) c.2134A>G (p.Thr712Ala) c.2208+1150A>G (n.2208+1150A>G) c.1354A>G (p.Thr452Ala) n.2630A>G | dbSNP |
17 | g.39724810A>T | CA399303229 | ERBB2 | c.2392A>T (p.Thr798Ser) c.2302A>T (p.Thr768Ser) c.1564A>T (p.Thr522Ser) c.2347A>T (p.Thr783Ser) c.*2182A>T (n.*2182A>T) c.498A>T n.3526A>T n.2716A>T c.2530A>T (p.Thr844Ser) c.2485A>T (p.Thr829Ser) c.2440A>T (p.Thr814Ser) c.2509A>T (p.Thr837Ser) c.2494A>T (p.Thr832Ser) c.2473A>T (p.Thr825Ser) c.2467A>T (p.Thr823Ser) c.2422A>T (p.Thr808Ser) c.2413A>T (p.Thr805Ser) c.2389A>T (p.Thr797Ser) c.2383A>T (p.Thr795Ser) c.2356A>T (p.Thr786Ser) c.2350A>T (p.Thr784Ser) c.2344A>T (p.Thr782Ser) c.2293A>T (p.Thr765Ser) c.2212A>T (p.Thr738Ser) c.2308-239A>T (n.2308-239A>T) c.2134A>T (p.Thr712Ser) c.2208+1150A>T (n.2208+1150A>T) c.1354A>T (p.Thr452Ser) n.2630A>T | dbSNP |
17 | g.39724811C>A | CA399303235 | ERBB2 | c.2393C>A (p.Thr798Lys) c.2303C>A (p.Thr768Lys) c.1565C>A (p.Thr522Lys) c.2348C>A (p.Thr783Lys) c.*2183C>A (n.*2183C>A) c.499C>A n.3527C>A n.2717C>A c.2531C>A (p.Thr844Lys) c.2486C>A (p.Thr829Lys) c.2441C>A (p.Thr814Lys) c.2510C>A (p.Thr837Lys) c.2495C>A (p.Thr832Lys) c.2474C>A (p.Thr825Lys) c.2468C>A (p.Thr823Lys) c.2423C>A (p.Thr808Lys) c.2414C>A (p.Thr805Lys) c.2390C>A (p.Thr797Lys) c.2384C>A (p.Thr795Lys) c.2357C>A (p.Thr786Lys) c.2351C>A (p.Thr784Lys) c.2345C>A (p.Thr782Lys) c.2294C>A (p.Thr765Lys) c.2213C>A (p.Thr738Lys) c.2308-238C>A (n.2308-238C>A) c.2135C>A (p.Thr712Lys) c.2208+1151C>A (n.2208+1151C>A) c.1355C>A (p.Thr452Lys) n.2631C>A | |
17 | g.39724811C>G | CA399303238 | ERBB2 | c.2393C>G (p.Thr798Arg) c.2303C>G (p.Thr768Arg) c.1565C>G (p.Thr522Arg) c.2348C>G (p.Thr783Arg) c.*2183C>G (n.*2183C>G) c.499C>G n.3527C>G n.2717C>G c.2531C>G (p.Thr844Arg) c.2486C>G (p.Thr829Arg) c.2441C>G (p.Thr814Arg) c.2510C>G (p.Thr837Arg) c.2495C>G (p.Thr832Arg) c.2474C>G (p.Thr825Arg) c.2468C>G (p.Thr823Arg) c.2423C>G (p.Thr808Arg) c.2414C>G (p.Thr805Arg) c.2390C>G (p.Thr797Arg) c.2384C>G (p.Thr795Arg) c.2357C>G (p.Thr786Arg) c.2351C>G (p.Thr784Arg) c.2345C>G (p.Thr782Arg) c.2294C>G (p.Thr765Arg) c.2213C>G (p.Thr738Arg) c.2308-238C>G (n.2308-238C>G) c.2135C>G (p.Thr712Arg) c.2208+1151C>G (n.2208+1151C>G) c.1355C>G (p.Thr452Arg) n.2631C>G | dbSNP |
17 | g.39724811C>T | CA399303242 | ERBB2 | c.2393C>T (p.Thr798Ile) c.2303C>T (p.Thr768Ile) c.1565C>T (p.Thr522Ile) c.2348C>T (p.Thr783Ile) c.*2183C>T (n.*2183C>T) c.499C>T n.3527C>T n.2717C>T c.2531C>T (p.Thr844Ile) c.2486C>T (p.Thr829Ile) c.2441C>T (p.Thr814Ile) c.2510C>T (p.Thr837Ile) c.2495C>T (p.Thr832Ile) c.2474C>T (p.Thr825Ile) c.2468C>T (p.Thr823Ile) c.2423C>T (p.Thr808Ile) c.2414C>T (p.Thr805Ile) c.2390C>T (p.Thr797Ile) c.2384C>T (p.Thr795Ile) c.2357C>T (p.Thr786Ile) c.2351C>T (p.Thr784Ile) c.2345C>T (p.Thr782Ile) c.2294C>T (p.Thr765Ile) c.2213C>T (p.Thr738Ile) c.2308-238C>T (n.2308-238C>T) c.2135C>T (p.Thr712Ile) c.2208+1151C>T (n.2208+1151C>T) c.1355C>T (p.Thr452Ile) n.2631C>T | dbSNP |
17 | g.39724811_39724812delinsTG | CA913012048 | ERBB2 | c.2393_2394delinsTG (p.Thr798Met) c.2303_2304delinsTG (p.Thr768Met) c.1565_1566delinsTG (p.Thr522Met) c.2348_2349delinsTG (p.Thr783Met) c.*2183_*2184delinsTG (n.*2183_*2184delinsTG) c.499_500delinsTG n.3527_3528delinsTG n.2717_2718delinsTG c.2531_2532delinsTG (p.Thr844Met) c.2486_2487delinsTG (p.Thr829Met) c.2441_2442delinsTG (p.Thr814Met) c.2510_2511delinsTG (p.Thr837Met) c.2495_2496delinsTG (p.Thr832Met) c.2474_2475delinsTG (p.Thr825Met) c.2468_2469delinsTG (p.Thr823Met) c.2423_2424delinsTG (p.Thr808Met) c.2414_2415delinsTG (p.Thr805Met) c.2390_2391delinsTG (p.Thr797Met) c.2384_2385delinsTG (p.Thr795Met) c.2357_2358delinsTG (p.Thr786Met) c.2351_2352delinsTG (p.Thr784Met) c.2345_2346delinsTG (p.Thr782Met) c.2294_2295delinsTG (p.Thr765Met) c.2213_2214delinsTG (p.Thr738Met) c.2308-238_2308-237delinsTG (n.2308-238_2308-237delinsTG) c.2135_2136delinsTG (p.Thr712Met) c.2208+1151_2208+1152delinsTG (n.2208+1151_2208+1152delinsTG) c.1355_1356delinsTG (p.Thr452Met) n.2631_2632delinsTG | |
17 | g.39724812A>C | CA499670894 | ERBB2 | c.2394A>C (p.Thr798=) c.2304A>C (p.Thr768=) c.1566A>C (p.Thr522=) c.2349A>C (p.Thr783=) c.*2184A>C (n.*2184A>C) c.500A>C n.3528A>C n.2718A>C c.2532A>C (p.Thr844=) c.2487A>C (p.Thr829=) c.2442A>C (p.Thr814=) c.2511A>C (p.Thr837=) c.2496A>C (p.Thr832=) c.2475A>C (p.Thr825=) c.2469A>C (p.Thr823=) c.2424A>C (p.Thr808=) c.2415A>C (p.Thr805=) c.2391A>C (p.Thr797=) c.2385A>C (p.Thr795=) c.2358A>C (p.Thr786=) c.2352A>C (p.Thr784=) c.2346A>C (p.Thr782=) c.2295A>C (p.Thr765=) c.2214A>C (p.Thr738=) c.2308-237A>C (n.2308-237A>C) c.2136A>C (p.Thr712=) c.2208+1152A>C (n.2208+1152A>C) c.1356A>C (p.Thr452=) n.2632A>C | dbSNP |
17 | g.39724812A>G | CA499670895 | ERBB2 | c.2394A>G (p.Thr798=) c.2304A>G (p.Thr768=) c.1566A>G (p.Thr522=) c.2349A>G (p.Thr783=) c.*2184A>G (n.*2184A>G) c.500A>G n.3528A>G n.2718A>G c.2532A>G (p.Thr844=) c.2487A>G (p.Thr829=) c.2442A>G (p.Thr814=) c.2511A>G (p.Thr837=) c.2496A>G (p.Thr832=) c.2475A>G (p.Thr825=) c.2469A>G (p.Thr823=) c.2424A>G (p.Thr808=) c.2415A>G (p.Thr805=) c.2391A>G (p.Thr797=) c.2385A>G (p.Thr795=) c.2358A>G (p.Thr786=) c.2352A>G (p.Thr784=) c.2346A>G (p.Thr782=) c.2295A>G (p.Thr765=) c.2214A>G (p.Thr738=) c.2308-237A>G (n.2308-237A>G) c.2136A>G (p.Thr712=) c.2208+1152A>G (n.2208+1152A>G) c.1356A>G (p.Thr452=) n.2632A>G | dbSNP gnomAD v4 |
17 | g.39724812A>T | CA499670896 | ERBB2 | c.2394A>T (p.Thr798=) c.2304A>T (p.Thr768=) c.1566A>T (p.Thr522=) c.2349A>T (p.Thr783=) c.*2184A>T (n.*2184A>T) c.500A>T n.3528A>T n.2718A>T c.2532A>T (p.Thr844=) c.2487A>T (p.Thr829=) c.2442A>T (p.Thr814=) c.2511A>T (p.Thr837=) c.2496A>T (p.Thr832=) c.2475A>T (p.Thr825=) c.2469A>T (p.Thr823=) c.2424A>T (p.Thr808=) c.2415A>T (p.Thr805=) c.2391A>T (p.Thr797=) c.2385A>T (p.Thr795=) c.2358A>T (p.Thr786=) c.2352A>T (p.Thr784=) c.2346A>T (p.Thr782=) c.2295A>T (p.Thr765=) c.2214A>T (p.Thr738=) c.2308-237A>T (n.2308-237A>T) c.2136A>T (p.Thr712=) c.2208+1152A>T (n.2208+1152A>T) c.1356A>T (p.Thr452=) n.2632A>T | dbSNP |
17 | g.39724813C>A | CA399303245 | ERBB2 | c.2395C>A (p.Gln799Lys) c.2305C>A (p.Gln769Lys) c.1567C>A (p.Gln523Lys) c.2350C>A (p.Gln784Lys) c.*2185C>A (n.*2185C>A) c.501C>A n.3529C>A n.2719C>A c.2533C>A (p.Gln845Lys) c.2488C>A (p.Gln830Lys) c.2443C>A (p.Gln815Lys) c.2512C>A (p.Gln838Lys) c.2497C>A (p.Gln833Lys) c.2476C>A (p.Gln826Lys) c.2470C>A (p.Gln824Lys) c.2425C>A (p.Gln809Lys) c.2416C>A (p.Gln806Lys) c.2392C>A (p.Gln798Lys) c.2386C>A (p.Gln796Lys) c.2359C>A (p.Gln787Lys) c.2353C>A (p.Gln785Lys) c.2347C>A (p.Gln783Lys) c.2296C>A (p.Gln766Lys) c.2215C>A (p.Gln739Lys) c.2308-236C>A (n.2308-236C>A) c.2137C>A (p.Gln713Lys) c.2208+1153C>A (n.2208+1153C>A) c.1357C>A (p.Gln453Lys) n.2633C>A | |
17 | g.39724813C>G | CA399303248 | ERBB2 | c.2395C>G (p.Gln799Glu) c.2305C>G (p.Gln769Glu) c.1567C>G (p.Gln523Glu) c.2350C>G (p.Gln784Glu) c.*2185C>G (n.*2185C>G) c.501C>G n.3529C>G n.2719C>G c.2533C>G (p.Gln845Glu) c.2488C>G (p.Gln830Glu) c.2443C>G (p.Gln815Glu) c.2512C>G (p.Gln838Glu) c.2497C>G (p.Gln833Glu) c.2476C>G (p.Gln826Glu) c.2470C>G (p.Gln824Glu) c.2425C>G (p.Gln809Glu) c.2416C>G (p.Gln806Glu) c.2392C>G (p.Gln798Glu) c.2386C>G (p.Gln796Glu) c.2359C>G (p.Gln787Glu) c.2353C>G (p.Gln785Glu) c.2347C>G (p.Gln783Glu) c.2296C>G (p.Gln766Glu) c.2215C>G (p.Gln739Glu) c.2308-236C>G (n.2308-236C>G) c.2137C>G (p.Gln713Glu) c.2208+1153C>G (n.2208+1153C>G) c.1357C>G (p.Gln453Glu) n.2633C>G | |
17 | g.39724813C>T | CA399303251 | ERBB2 | c.2395C>T (p.Gln799Ter) c.2305C>T (p.Gln769Ter) c.1567C>T (p.Gln523Ter) c.2350C>T (p.Gln784Ter) c.*2185C>T (n.*2185C>T) c.501C>T n.3529C>T n.2719C>T c.2533C>T (p.Gln845Ter) c.2488C>T (p.Gln830Ter) c.2443C>T (p.Gln815Ter) c.2512C>T (p.Gln838Ter) c.2497C>T (p.Gln833Ter) c.2476C>T (p.Gln826Ter) c.2470C>T (p.Gln824Ter) c.2425C>T (p.Gln809Ter) c.2416C>T (p.Gln806Ter) c.2392C>T (p.Gln798Ter) c.2386C>T (p.Gln796Ter) c.2359C>T (p.Gln787Ter) c.2353C>T (p.Gln785Ter) c.2347C>T (p.Gln783Ter) c.2296C>T (p.Gln766Ter) c.2215C>T (p.Gln739Ter) c.2308-236C>T (n.2308-236C>T) c.2137C>T (p.Gln713Ter) c.2208+1153C>T (n.2208+1153C>T) c.1357C>T (p.Gln453Ter) n.2633C>T | |
17 | g.39724814A>C | CA399303262 | ERBB2 | c.2396A>C (p.Gln799Pro) c.2306A>C (p.Gln769Pro) c.1568A>C (p.Gln523Pro) c.2351A>C (p.Gln784Pro) c.*2186A>C (n.*2186A>C) c.502A>C n.3530A>C n.2720A>C c.2534A>C (p.Gln845Pro) c.2489A>C (p.Gln830Pro) c.2444A>C (p.Gln815Pro) c.2513A>C (p.Gln838Pro) c.2498A>C (p.Gln833Pro) c.2477A>C (p.Gln826Pro) c.2471A>C (p.Gln824Pro) c.2426A>C (p.Gln809Pro) c.2417A>C (p.Gln806Pro) c.2393A>C (p.Gln798Pro) c.2387A>C (p.Gln796Pro) c.2360A>C (p.Gln787Pro) c.2354A>C (p.Gln785Pro) c.2348A>C (p.Gln783Pro) c.2297A>C (p.Gln766Pro) c.2216A>C (p.Gln739Pro) c.2308-235A>C (n.2308-235A>C) c.2138A>C (p.Gln713Pro) c.2208+1154A>C (n.2208+1154A>C) c.1358A>C (p.Gln453Pro) n.2634A>C | COSMIC |
17 | g.39724814A>G | CA399303256 | ERBB2 | c.2396A>G (p.Gln799Arg) c.2306A>G (p.Gln769Arg) c.1568A>G (p.Gln523Arg) c.2351A>G (p.Gln784Arg) c.*2186A>G (n.*2186A>G) c.502A>G n.3530A>G n.2720A>G c.2534A>G (p.Gln845Arg) c.2489A>G (p.Gln830Arg) c.2444A>G (p.Gln815Arg) c.2513A>G (p.Gln838Arg) c.2498A>G (p.Gln833Arg) c.2477A>G (p.Gln826Arg) c.2471A>G (p.Gln824Arg) c.2426A>G (p.Gln809Arg) c.2417A>G (p.Gln806Arg) c.2393A>G (p.Gln798Arg) c.2387A>G (p.Gln796Arg) c.2360A>G (p.Gln787Arg) c.2354A>G (p.Gln785Arg) c.2348A>G (p.Gln783Arg) c.2297A>G (p.Gln766Arg) c.2216A>G (p.Gln739Arg) c.2308-235A>G (n.2308-235A>G) c.2138A>G (p.Gln713Arg) c.2208+1154A>G (n.2208+1154A>G) c.1358A>G (p.Gln453Arg) n.2634A>G | dbSNP |
17 | g.39724814A>T | CA399303258 | ERBB2 | c.2396A>T (p.Gln799Leu) c.2306A>T (p.Gln769Leu) c.1568A>T (p.Gln523Leu) c.2351A>T (p.Gln784Leu) c.*2186A>T (n.*2186A>T) c.502A>T n.3530A>T n.2720A>T c.2534A>T (p.Gln845Leu) c.2489A>T (p.Gln830Leu) c.2444A>T (p.Gln815Leu) c.2513A>T (p.Gln838Leu) c.2498A>T (p.Gln833Leu) c.2477A>T (p.Gln826Leu) c.2471A>T (p.Gln824Leu) c.2426A>T (p.Gln809Leu) c.2417A>T (p.Gln806Leu) c.2393A>T (p.Gln798Leu) c.2387A>T (p.Gln796Leu) c.2360A>T (p.Gln787Leu) c.2354A>T (p.Gln785Leu) c.2348A>T (p.Gln783Leu) c.2297A>T (p.Gln766Leu) c.2216A>T (p.Gln739Leu) c.2308-235A>T (n.2308-235A>T) c.2138A>T (p.Gln713Leu) c.2208+1154A>T (n.2208+1154A>T) c.1358A>T (p.Gln453Leu) n.2634A>T | dbSNP |
17 | g.39724815G>A | CA499670897 | ERBB2 | c.2397G>A (p.Gln799=) c.2307G>A (p.Gln769=) c.1569G>A (p.Gln523=) c.2352G>A (p.Gln784=) c.*2187G>A (n.*2187G>A) c.503G>A n.3531G>A n.2721G>A c.2535G>A (p.Gln845=) c.2490G>A (p.Gln830=) c.2445G>A (p.Gln815=) c.2514G>A (p.Gln838=) c.2499G>A (p.Gln833=) c.2478G>A (p.Gln826=) c.2472G>A (p.Gln824=) c.2427G>A (p.Gln809=) c.2418G>A (p.Gln806=) c.2394G>A (p.Gln798=) c.2388G>A (p.Gln796=) c.2361G>A (p.Gln787=) c.2355G>A (p.Gln785=) c.2349G>A (p.Gln783=) c.2298G>A (p.Gln766=) c.2217G>A (p.Gln739=) c.2308-234G>A (n.2308-234G>A) c.2139G>A (p.Gln713=) c.2208+1155G>A (n.2208+1155G>A) c.1359G>A (p.Gln453=) n.2635G>A | dbSNP |
17 | g.39724815G>C | CA399303264 | ERBB2 | c.2397G>C (p.Gln799His) c.2307G>C (p.Gln769His) c.1569G>C (p.Gln523His) c.2352G>C (p.Gln784His) c.*2187G>C (n.*2187G>C) c.503G>C n.3531G>C n.2721G>C c.2535G>C (p.Gln845His) c.2490G>C (p.Gln830His) c.2445G>C (p.Gln815His) c.2514G>C (p.Gln838His) c.2499G>C (p.Gln833His) c.2478G>C (p.Gln826His) c.2472G>C (p.Gln824His) c.2427G>C (p.Gln809His) c.2418G>C (p.Gln806His) c.2394G>C (p.Gln798His) c.2388G>C (p.Gln796His) c.2361G>C (p.Gln787His) c.2355G>C (p.Gln785His) c.2349G>C (p.Gln783His) c.2298G>C (p.Gln766His) c.2217G>C (p.Gln739His) c.2308-234G>C (n.2308-234G>C) c.2139G>C (p.Gln713His) c.2208+1155G>C (n.2208+1155G>C) c.1359G>C (p.Gln453His) n.2635G>C | dbSNP |
17 | g.39724815G>T | CA399303267 | ERBB2 | c.2397G>T (p.Gln799His) c.2307G>T (p.Gln769His) c.1569G>T (p.Gln523His) c.2352G>T (p.Gln784His) c.*2187G>T (n.*2187G>T) c.503G>T n.3531G>T n.2721G>T c.2535G>T (p.Gln845His) c.2490G>T (p.Gln830His) c.2445G>T (p.Gln815His) c.2514G>T (p.Gln838His) c.2499G>T (p.Gln833His) c.2478G>T (p.Gln826His) c.2472G>T (p.Gln824His) c.2427G>T (p.Gln809His) c.2418G>T (p.Gln806His) c.2394G>T (p.Gln798His) c.2388G>T (p.Gln796His) c.2361G>T (p.Gln787His) c.2355G>T (p.Gln785His) c.2349G>T (p.Gln783His) c.2298G>T (p.Gln766His) c.2217G>T (p.Gln739His) c.2308-234G>T (n.2308-234G>T) c.2139G>T (p.Gln713His) c.2208+1155G>T (n.2208+1155G>T) c.1359G>T (p.Gln453His) n.2635G>T | |
17 | g.39724816C>A | CA399303271 | ERBB2 | c.2398C>A (p.Leu800Ile) c.2308C>A (p.Leu770Ile) c.1570C>A (p.Leu524Ile) c.2353C>A (p.Leu785Ile) c.*2188C>A (n.*2188C>A) c.504C>A n.3532C>A n.2722C>A c.2536C>A (p.Leu846Ile) c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2515C>A (p.Leu839Ile) c.2500C>A (p.Leu834Ile) c.2479C>A (p.Leu827Ile) c.2473C>A (p.Leu825Ile) c.2428C>A (p.Leu810Ile) c.2419C>A (p.Leu807Ile) c.2395C>A (p.Leu799Ile) c.2389C>A (p.Leu797Ile) c.2362C>A (p.Leu788Ile) c.2356C>A (p.Leu786Ile) c.2350C>A (p.Leu784Ile) c.2299C>A (p.Leu767Ile) c.2218C>A (p.Leu740Ile) c.2308-233C>A (n.2308-233C>A) c.2140C>A (p.Leu714Ile) c.2208+1156C>A (n.2208+1156C>A) c.1360C>A (p.Leu454Ile) n.2636C>A | |
17 | g.39724816C>G | CA399303272 | ERBB2 | c.2398C>G (p.Leu800Val) c.2308C>G (p.Leu770Val) c.1570C>G (p.Leu524Val) c.2353C>G (p.Leu785Val) c.*2188C>G (n.*2188C>G) c.504C>G n.3532C>G n.2722C>G c.2536C>G (p.Leu846Val) c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2515C>G (p.Leu839Val) c.2500C>G (p.Leu834Val) c.2479C>G (p.Leu827Val) c.2473C>G (p.Leu825Val) c.2428C>G (p.Leu810Val) c.2419C>G (p.Leu807Val) c.2395C>G (p.Leu799Val) c.2389C>G (p.Leu797Val) c.2362C>G (p.Leu788Val) c.2356C>G (p.Leu786Val) c.2350C>G (p.Leu784Val) c.2299C>G (p.Leu767Val) c.2218C>G (p.Leu740Val) c.2308-233C>G (n.2308-233C>G) c.2140C>G (p.Leu714Val) c.2208+1156C>G (n.2208+1156C>G) c.1360C>G (p.Leu454Val) n.2636C>G | |
17 | g.39724816C>T | CA399303275 | ERBB2 | c.2398C>T (p.Leu800Phe) c.2308C>T (p.Leu770Phe) c.1570C>T (p.Leu524Phe) c.2353C>T (p.Leu785Phe) c.*2188C>T (n.*2188C>T) c.504C>T n.3532C>T n.2722C>T c.2536C>T (p.Leu846Phe) c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2515C>T (p.Leu839Phe) c.2500C>T (p.Leu834Phe) c.2479C>T (p.Leu827Phe) c.2473C>T (p.Leu825Phe) c.2428C>T (p.Leu810Phe) c.2419C>T (p.Leu807Phe) c.2395C>T (p.Leu799Phe) c.2389C>T (p.Leu797Phe) c.2362C>T (p.Leu788Phe) c.2356C>T (p.Leu786Phe) c.2350C>T (p.Leu784Phe) c.2299C>T (p.Leu767Phe) c.2218C>T (p.Leu740Phe) c.2308-233C>T (n.2308-233C>T) c.2140C>T (p.Leu714Phe) c.2208+1156C>T (n.2208+1156C>T) c.1360C>T (p.Leu454Phe) n.2636C>T | ClinVar |
17 | g.39724817T>A | CA399303279 | ERBB2 | c.2399T>A (p.Leu800His) c.2309T>A (p.Leu770His) c.1571T>A (p.Leu524His) c.2354T>A (p.Leu785His) c.*2189T>A (n.*2189T>A) c.505T>A n.3533T>A n.2723T>A c.2537T>A (p.Leu846His) c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2516T>A (p.Leu839His) c.2501T>A (p.Leu834His) c.2480T>A (p.Leu827His) c.2474T>A (p.Leu825His) c.2429T>A (p.Leu810His) c.2420T>A (p.Leu807His) c.2396T>A (p.Leu799His) c.2390T>A (p.Leu797His) c.2363T>A (p.Leu788His) c.2357T>A (p.Leu786His) c.2351T>A (p.Leu784His) c.2300T>A (p.Leu767His) c.2219T>A (p.Leu740His) c.2308-232T>A (n.2308-232T>A) c.2141T>A (p.Leu714His) c.2208+1157T>A (n.2208+1157T>A) c.1361T>A (p.Leu454His) n.2637T>A | dbSNP |
17 | g.39724817T>C | CA399303281 | ERBB2 | c.2399T>C (p.Leu800Pro) c.2309T>C (p.Leu770Pro) c.1571T>C (p.Leu524Pro) c.2354T>C (p.Leu785Pro) c.*2189T>C (n.*2189T>C) c.505T>C n.3533T>C n.2723T>C c.2537T>C (p.Leu846Pro) c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2516T>C (p.Leu839Pro) c.2501T>C (p.Leu834Pro) c.2480T>C (p.Leu827Pro) c.2474T>C (p.Leu825Pro) c.2429T>C (p.Leu810Pro) c.2420T>C (p.Leu807Pro) c.2396T>C (p.Leu799Pro) c.2390T>C (p.Leu797Pro) c.2363T>C (p.Leu788Pro) c.2357T>C (p.Leu786Pro) c.2351T>C (p.Leu784Pro) c.2300T>C (p.Leu767Pro) c.2219T>C (p.Leu740Pro) c.2308-232T>C (n.2308-232T>C) c.2141T>C (p.Leu714Pro) c.2208+1157T>C (n.2208+1157T>C) c.1361T>C (p.Leu454Pro) n.2637T>C | dbSNP |
17 | g.39724817T>G | CA399303283 | ERBB2 | c.2399T>G (p.Leu800Arg) c.2309T>G (p.Leu770Arg) c.1571T>G (p.Leu524Arg) c.2354T>G (p.Leu785Arg) c.*2189T>G (n.*2189T>G) c.505T>G n.3533T>G n.2723T>G c.2537T>G (p.Leu846Arg) c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2516T>G (p.Leu839Arg) c.2501T>G (p.Leu834Arg) c.2480T>G (p.Leu827Arg) c.2474T>G (p.Leu825Arg) c.2429T>G (p.Leu810Arg) c.2420T>G (p.Leu807Arg) c.2396T>G (p.Leu799Arg) c.2390T>G (p.Leu797Arg) c.2363T>G (p.Leu788Arg) c.2357T>G (p.Leu786Arg) c.2351T>G (p.Leu784Arg) c.2300T>G (p.Leu767Arg) c.2219T>G (p.Leu740Arg) c.2308-232T>G (n.2308-232T>G) c.2141T>G (p.Leu714Arg) c.2208+1157T>G (n.2208+1157T>G) c.1361T>G (p.Leu454Arg) n.2637T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724817T= | CA2259228015 | ERBB2 | c.2399T= (p.Leu800=) c.2309T= (p.Leu770=) c.1571T= (p.Leu524=) c.2354T= (p.Leu785=) c.*2189T= (n.*2189T=) c.505T= n.3533T= n.2723T= c.2537T= (p.Leu846=) c.2492T= (p.Leu831=) c.2447T= (p.Leu816=) c.2516T= (p.Leu839=) c.2501T= (p.Leu834=) c.2480T= (p.Leu827=) c.2474T= (p.Leu825=) c.2429T= (p.Leu810=) c.2420T= (p.Leu807=) c.2396T= (p.Leu799=) c.2390T= (p.Leu797=) c.2363T= (p.Leu788=) c.2357T= (p.Leu786=) c.2351T= (p.Leu784=) c.2300T= (p.Leu767=) c.2219T= (p.Leu740=) c.2308-232T= (n.2308-232T=) c.2141T= (p.Leu714=) c.2208+1157T= (n.2208+1157T=) c.1361T= (p.Leu454=) n.2637T= | |
17 | g.39724818T>A | CA499670898 | ERBB2 | c.2400T>A (p.Leu800=) c.2310T>A (p.Leu770=) c.1572T>A (p.Leu524=) c.2355T>A (p.Leu785=) c.*2190T>A (n.*2190T>A) c.506T>A n.3534T>A n.2724T>A c.2538T>A (p.Leu846=) c.2493T>A (p.Leu831=) c.2448T>A (p.Leu816=) c.2517T>A (p.Leu839=) c.2502T>A (p.Leu834=) c.2481T>A (p.Leu827=) c.2475T>A (p.Leu825=) c.2430T>A (p.Leu810=) c.2421T>A (p.Leu807=) c.2397T>A (p.Leu799=) c.2391T>A (p.Leu797=) c.2364T>A (p.Leu788=) c.2358T>A (p.Leu786=) c.2352T>A (p.Leu784=) c.2301T>A (p.Leu767=) c.2220T>A (p.Leu740=) c.2308-231T>A (n.2308-231T>A) c.2142T>A (p.Leu714=) c.2208+1158T>A (n.2208+1158T>A) c.1362T>A (p.Leu454=) n.2638T>A | dbSNP |
17 | g.39724818T>C | CA8534293 | ERBB2 | c.2400T>C (p.Leu800=) c.2310T>C (p.Leu770=) c.1572T>C (p.Leu524=) c.2355T>C (p.Leu785=) c.*2190T>C (n.*2190T>C) c.506T>C n.3534T>C n.2724T>C c.2538T>C (p.Leu846=) c.2493T>C (p.Leu831=) c.2448T>C (p.Leu816=) c.2517T>C (p.Leu839=) c.2502T>C (p.Leu834=) c.2481T>C (p.Leu827=) c.2475T>C (p.Leu825=) c.2430T>C (p.Leu810=) c.2421T>C (p.Leu807=) c.2397T>C (p.Leu799=) c.2391T>C (p.Leu797=) c.2364T>C (p.Leu788=) c.2358T>C (p.Leu786=) c.2352T>C (p.Leu784=) c.2301T>C (p.Leu767=) c.2220T>C (p.Leu740=) c.2308-231T>C (n.2308-231T>C) c.2142T>C (p.Leu714=) c.2208+1158T>C (n.2208+1158T>C) c.1362T>C (p.Leu454=) n.2638T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724818T>G | CA499670899 | ERBB2 | c.2400T>G (p.Leu800=) c.2310T>G (p.Leu770=) c.1572T>G (p.Leu524=) c.2355T>G (p.Leu785=) c.*2190T>G (n.*2190T>G) c.506T>G n.3534T>G n.2724T>G c.2538T>G (p.Leu846=) c.2493T>G (p.Leu831=) c.2448T>G (p.Leu816=) c.2517T>G (p.Leu839=) c.2502T>G (p.Leu834=) c.2481T>G (p.Leu827=) c.2475T>G (p.Leu825=) c.2430T>G (p.Leu810=) c.2421T>G (p.Leu807=) c.2397T>G (p.Leu799=) c.2391T>G (p.Leu797=) c.2364T>G (p.Leu788=) c.2358T>G (p.Leu786=) c.2352T>G (p.Leu784=) c.2301T>G (p.Leu767=) c.2220T>G (p.Leu740=) c.2308-231T>G (n.2308-231T>G) c.2142T>G (p.Leu714=) c.2208+1158T>G (n.2208+1158T>G) c.1362T>G (p.Leu454=) n.2638T>G | |
17 | g.39724818T= | CA2259228016 | ERBB2 | c.2400T= (p.Leu800=) c.2310T= (p.Leu770=) c.1572T= (p.Leu524=) c.2355T= (p.Leu785=) c.*2190T= (n.*2190T=) c.506T= n.3534T= n.2724T= c.2538T= (p.Leu846=) c.2493T= (p.Leu831=) c.2448T= (p.Leu816=) c.2517T= (p.Leu839=) c.2502T= (p.Leu834=) c.2481T= (p.Leu827=) c.2475T= (p.Leu825=) c.2430T= (p.Leu810=) c.2421T= (p.Leu807=) c.2397T= (p.Leu799=) c.2391T= (p.Leu797=) c.2364T= (p.Leu788=) c.2358T= (p.Leu786=) c.2352T= (p.Leu784=) c.2301T= (p.Leu767=) c.2220T= (p.Leu740=) c.2308-231T= (n.2308-231T=) c.2142T= (p.Leu714=) c.2208+1158T= (n.2208+1158T=) c.1362T= (p.Leu454=) n.2638T= | |
17 | g.39724819_39724820del | CA2733615442 | ERBB2 | c.2401_2402del (p.Met801AlafsTer?) c.2311_2312del (p.Met771AlafsTer?) c.1573_1574del (p.Met525AlafsTer?) c.2356_2357del (p.Met786AlafsTer?) c.*2191_*2192del (n.*2191_*2192del) c.507_508del n.3535_3536del n.2725_2726del c.2539_2540del (p.Met847AlafsTer?) c.2494_2495del (p.Met832AlafsTer?) c.2449_2450del (p.Met817AlafsTer?) c.2518_2519del (p.Met840AlafsTer?) c.2503_2504del (p.Met835AlafsTer?) c.2482_2483del (p.Met828AlafsTer?) c.2476_2477del (p.Met826AlafsTer?) c.2431_2432del (p.Met811AlafsTer?) c.2422_2423del (p.Met808AlafsTer?) c.2398_2399del (p.Met800AlafsTer?) c.2392_2393del (p.Met798AlafsTer?) c.2365_2366del (p.Met789AlafsTer?) c.2359_2360del (p.Met787AlafsTer?) c.2353_2354del (p.Met785AlafsTer?) c.2302_2303del (p.Met768AlafsTer?) c.2221_2222del (p.Met741AlafsTer?) c.2308-230_2308-229del (n.2308-230_2308-229del) c.2143_2144del (p.Met715AlafsTer?) c.2208+1159_2208+1160del (n.2208+1159_2208+1160del) c.1363_1364del (p.Met455AlafsTer?) n.2639_2640del | dbSNP |
17 | g.39724819A>C | CA399303287 | ERBB2 | c.2401A>C (p.Met801Leu) c.2311A>C (p.Met771Leu) c.1573A>C (p.Met525Leu) c.2356A>C (p.Met786Leu) c.*2191A>C (n.*2191A>C) c.507A>C n.3535A>C n.2725A>C c.2539A>C (p.Met847Leu) c.2494A>C (p.Met832Leu) c.2449A>C (p.Met817Leu) c.2518A>C (p.Met840Leu) c.2503A>C (p.Met835Leu) c.2482A>C (p.Met828Leu) c.2476A>C (p.Met826Leu) c.2431A>C (p.Met811Leu) c.2422A>C (p.Met808Leu) c.2398A>C (p.Met800Leu) c.2392A>C (p.Met798Leu) c.2365A>C (p.Met789Leu) c.2359A>C (p.Met787Leu) c.2353A>C (p.Met785Leu) c.2302A>C (p.Met768Leu) c.2221A>C (p.Met741Leu) c.2308-230A>C (n.2308-230A>C) c.2143A>C (p.Met715Leu) c.2208+1159A>C (n.2208+1159A>C) c.1363A>C (p.Met455Leu) n.2639A>C | dbSNP |
17 | g.39724819A>G | CA399303289 | ERBB2 | c.2401A>G (p.Met801Val) c.2311A>G (p.Met771Val) c.1573A>G (p.Met525Val) c.2356A>G (p.Met786Val) c.*2191A>G (n.*2191A>G) c.507A>G n.3535A>G n.2725A>G c.2539A>G (p.Met847Val) c.2494A>G (p.Met832Val) c.2449A>G (p.Met817Val) c.2518A>G (p.Met840Val) c.2503A>G (p.Met835Val) c.2482A>G (p.Met828Val) c.2476A>G (p.Met826Val) c.2431A>G (p.Met811Val) c.2422A>G (p.Met808Val) c.2398A>G (p.Met800Val) c.2392A>G (p.Met798Val) c.2365A>G (p.Met789Val) c.2359A>G (p.Met787Val) c.2353A>G (p.Met785Val) c.2302A>G (p.Met768Val) c.2221A>G (p.Met741Val) c.2308-230A>G (n.2308-230A>G) c.2143A>G (p.Met715Val) c.2208+1159A>G (n.2208+1159A>G) c.1363A>G (p.Met455Val) n.2639A>G | dbSNP |
17 | g.39724819A>T | CA399303291 | ERBB2 | c.2401A>T (p.Met801Leu) c.2311A>T (p.Met771Leu) c.1573A>T (p.Met525Leu) c.2356A>T (p.Met786Leu) c.*2191A>T (n.*2191A>T) c.507A>T n.3535A>T n.2725A>T c.2539A>T (p.Met847Leu) c.2494A>T (p.Met832Leu) c.2449A>T (p.Met817Leu) c.2518A>T (p.Met840Leu) c.2503A>T (p.Met835Leu) c.2482A>T (p.Met828Leu) c.2476A>T (p.Met826Leu) c.2431A>T (p.Met811Leu) c.2422A>T (p.Met808Leu) c.2398A>T (p.Met800Leu) c.2392A>T (p.Met798Leu) c.2365A>T (p.Met789Leu) c.2359A>T (p.Met787Leu) c.2353A>T (p.Met785Leu) c.2302A>T (p.Met768Leu) c.2221A>T (p.Met741Leu) c.2308-230A>T (n.2308-230A>T) c.2143A>T (p.Met715Leu) c.2208+1159A>T (n.2208+1159A>T) c.1363A>T (p.Met455Leu) n.2639A>T | dbSNP |
17 | g.39724820T>A | CA399303295 | ERBB2 | c.2402T>A (p.Met801Lys) c.2312T>A (p.Met771Lys) c.1574T>A (p.Met525Lys) c.2357T>A (p.Met786Lys) c.*2192T>A (n.*2192T>A) c.508T>A n.3536T>A n.2726T>A c.2540T>A (p.Met847Lys) c.2495T>A (p.Met832Lys) c.2450T>A (p.Met817Lys) c.2519T>A (p.Met840Lys) c.2504T>A (p.Met835Lys) c.2483T>A (p.Met828Lys) c.2477T>A (p.Met826Lys) c.2432T>A (p.Met811Lys) c.2423T>A (p.Met808Lys) c.2399T>A (p.Met800Lys) c.2393T>A (p.Met798Lys) c.2366T>A (p.Met789Lys) c.2360T>A (p.Met787Lys) c.2354T>A (p.Met785Lys) c.2303T>A (p.Met768Lys) c.2222T>A (p.Met741Lys) c.2308-229T>A (n.2308-229T>A) c.2144T>A (p.Met715Lys) c.2208+1160T>A (n.2208+1160T>A) c.1364T>A (p.Met455Lys) n.2640T>A | dbSNP |
17 | g.39724820T>C | CA399303298 | ERBB2 | c.2402T>C (p.Met801Thr) c.2312T>C (p.Met771Thr) c.1574T>C (p.Met525Thr) c.2357T>C (p.Met786Thr) c.*2192T>C (n.*2192T>C) c.508T>C n.3536T>C n.2726T>C c.2540T>C (p.Met847Thr) c.2495T>C (p.Met832Thr) c.2450T>C (p.Met817Thr) c.2519T>C (p.Met840Thr) c.2504T>C (p.Met835Thr) c.2483T>C (p.Met828Thr) c.2477T>C (p.Met826Thr) c.2432T>C (p.Met811Thr) c.2423T>C (p.Met808Thr) c.2399T>C (p.Met800Thr) c.2393T>C (p.Met798Thr) c.2366T>C (p.Met789Thr) c.2360T>C (p.Met787Thr) c.2354T>C (p.Met785Thr) c.2303T>C (p.Met768Thr) c.2222T>C (p.Met741Thr) c.2308-229T>C (n.2308-229T>C) c.2144T>C (p.Met715Thr) c.2208+1160T>C (n.2208+1160T>C) c.1364T>C (p.Met455Thr) n.2640T>C | dbSNP |
17 | g.39724820T>G | CA399303296 | ERBB2 | c.2402T>G (p.Met801Arg) c.2312T>G (p.Met771Arg) c.1574T>G (p.Met525Arg) c.2357T>G (p.Met786Arg) c.*2192T>G (n.*2192T>G) c.508T>G n.3536T>G n.2726T>G c.2540T>G (p.Met847Arg) c.2495T>G (p.Met832Arg) c.2450T>G (p.Met817Arg) c.2519T>G (p.Met840Arg) c.2504T>G (p.Met835Arg) c.2483T>G (p.Met828Arg) c.2477T>G (p.Met826Arg) c.2432T>G (p.Met811Arg) c.2423T>G (p.Met808Arg) c.2399T>G (p.Met800Arg) c.2393T>G (p.Met798Arg) c.2366T>G (p.Met789Arg) c.2360T>G (p.Met787Arg) c.2354T>G (p.Met785Arg) c.2303T>G (p.Met768Arg) c.2222T>G (p.Met741Arg) c.2308-229T>G (n.2308-229T>G) c.2144T>G (p.Met715Arg) c.2208+1160T>G (n.2208+1160T>G) c.1364T>G (p.Met455Arg) n.2640T>G | dbSNP |
17 | g.39724821G>A | CA399303301 | ERBB2 | c.2403G>A (p.Met801Ile) c.2313G>A (p.Met771Ile) c.1575G>A (p.Met525Ile) c.2358G>A (p.Met786Ile) c.*2193G>A (n.*2193G>A) c.509G>A n.3537G>A n.2727G>A c.2541G>A (p.Met847Ile) c.2496G>A (p.Met832Ile) c.2451G>A (p.Met817Ile) c.2520G>A (p.Met840Ile) c.2505G>A (p.Met835Ile) c.2484G>A (p.Met828Ile) c.2478G>A (p.Met826Ile) c.2433G>A (p.Met811Ile) c.2424G>A (p.Met808Ile) c.2400G>A (p.Met800Ile) c.2394G>A (p.Met798Ile) c.2367G>A (p.Met789Ile) c.2361G>A (p.Met787Ile) c.2355G>A (p.Met785Ile) c.2304G>A (p.Met768Ile) c.2223G>A (p.Met741Ile) c.2308-228G>A (n.2308-228G>A) c.2145G>A (p.Met715Ile) c.2208+1161G>A (n.2208+1161G>A) c.1365G>A (p.Met455Ile) n.2641G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724821G>C | CA399303302 | ERBB2 | c.2403G>C (p.Met801Ile) c.2313G>C (p.Met771Ile) c.1575G>C (p.Met525Ile) c.2358G>C (p.Met786Ile) c.*2193G>C (n.*2193G>C) c.509G>C n.3537G>C n.2727G>C c.2541G>C (p.Met847Ile) c.2496G>C (p.Met832Ile) c.2451G>C (p.Met817Ile) c.2520G>C (p.Met840Ile) c.2505G>C (p.Met835Ile) c.2484G>C (p.Met828Ile) c.2478G>C (p.Met826Ile) c.2433G>C (p.Met811Ile) c.2424G>C (p.Met808Ile) c.2400G>C (p.Met800Ile) c.2394G>C (p.Met798Ile) c.2367G>C (p.Met789Ile) c.2361G>C (p.Met787Ile) c.2355G>C (p.Met785Ile) c.2304G>C (p.Met768Ile) c.2223G>C (p.Met741Ile) c.2308-228G>C (n.2308-228G>C) c.2145G>C (p.Met715Ile) c.2208+1161G>C (n.2208+1161G>C) c.1365G>C (p.Met455Ile) n.2641G>C | |
17 | g.39724821G= | CA2259228017 | ERBB2 | c.2403G= (p.Met801=) c.2313G= (p.Met771=) c.1575G= (p.Met525=) c.2358G= (p.Met786=) c.*2193G= (n.*2193G=) c.509G= n.3537G= n.2727G= c.2541G= (p.Met847=) c.2496G= (p.Met832=) c.2451G= (p.Met817=) c.2520G= (p.Met840=) c.2505G= (p.Met835=) c.2484G= (p.Met828=) c.2478G= (p.Met826=) c.2433G= (p.Met811=) c.2424G= (p.Met808=) c.2400G= (p.Met800=) c.2394G= (p.Met798=) c.2367G= (p.Met789=) c.2361G= (p.Met787=) c.2355G= (p.Met785=) c.2304G= (p.Met768=) c.2223G= (p.Met741=) c.2308-228G= (n.2308-228G=) c.2145G= (p.Met715=) c.2208+1161G= (n.2208+1161G=) c.1365G= (p.Met455=) n.2641G= | |
17 | g.39724821G>T | CA399303305 | ERBB2 | c.2403G>T (p.Met801Ile) c.2313G>T (p.Met771Ile) c.1575G>T (p.Met525Ile) c.2358G>T (p.Met786Ile) c.*2193G>T (n.*2193G>T) c.509G>T n.3537G>T n.2727G>T c.2541G>T (p.Met847Ile) c.2496G>T (p.Met832Ile) c.2451G>T (p.Met817Ile) c.2520G>T (p.Met840Ile) c.2505G>T (p.Met835Ile) c.2484G>T (p.Met828Ile) c.2478G>T (p.Met826Ile) c.2433G>T (p.Met811Ile) c.2424G>T (p.Met808Ile) c.2400G>T (p.Met800Ile) c.2394G>T (p.Met798Ile) c.2367G>T (p.Met789Ile) c.2361G>T (p.Met787Ile) c.2355G>T (p.Met785Ile) c.2304G>T (p.Met768Ile) c.2223G>T (p.Met741Ile) c.2308-228G>T (n.2308-228G>T) c.2145G>T (p.Met715Ile) c.2208+1161G>T (n.2208+1161G>T) c.1365G>T (p.Met455Ile) n.2641G>T | |
17 | g.39724822C>A | CA399303307 | ERBB2 | c.2404C>A (p.Pro802Thr) c.2314C>A (p.Pro772Thr) c.1576C>A (p.Pro526Thr) c.2359C>A (p.Pro787Thr) c.*2194C>A (n.*2194C>A) c.510C>A n.3538C>A n.2728C>A c.2542C>A (p.Pro848Thr) c.2497C>A (p.Pro833Thr) c.2452C>A (p.Pro818Thr) c.2521C>A (p.Pro841Thr) c.2506C>A (p.Pro836Thr) c.2485C>A (p.Pro829Thr) c.2479C>A (p.Pro827Thr) c.2434C>A (p.Pro812Thr) c.2425C>A (p.Pro809Thr) c.2401C>A (p.Pro801Thr) c.2395C>A (p.Pro799Thr) c.2368C>A (p.Pro790Thr) c.2362C>A (p.Pro788Thr) c.2356C>A (p.Pro786Thr) c.2305C>A (p.Pro769Thr) c.2224C>A (p.Pro742Thr) c.2308-227C>A (n.2308-227C>A) c.2146C>A (p.Pro716Thr) c.2208+1162C>A (n.2208+1162C>A) c.1366C>A (p.Pro456Thr) n.2642C>A | dbSNP |
17 | g.39724822C>G | CA399303309 | ERBB2 | c.2404C>G (p.Pro802Ala) c.2314C>G (p.Pro772Ala) c.1576C>G (p.Pro526Ala) c.2359C>G (p.Pro787Ala) c.*2194C>G (n.*2194C>G) c.510C>G n.3538C>G n.2728C>G c.2542C>G (p.Pro848Ala) c.2497C>G (p.Pro833Ala) c.2452C>G (p.Pro818Ala) c.2521C>G (p.Pro841Ala) c.2506C>G (p.Pro836Ala) c.2485C>G (p.Pro829Ala) c.2479C>G (p.Pro827Ala) c.2434C>G (p.Pro812Ala) c.2425C>G (p.Pro809Ala) c.2401C>G (p.Pro801Ala) c.2395C>G (p.Pro799Ala) c.2368C>G (p.Pro790Ala) c.2362C>G (p.Pro788Ala) c.2356C>G (p.Pro786Ala) c.2305C>G (p.Pro769Ala) c.2224C>G (p.Pro742Ala) c.2308-227C>G (n.2308-227C>G) c.2146C>G (p.Pro716Ala) c.2208+1162C>G (n.2208+1162C>G) c.1366C>G (p.Pro456Ala) n.2642C>G | dbSNP |
17 | g.39724822C>T | CA399303310 | ERBB2 | c.2404C>T (p.Pro802Ser) c.2314C>T (p.Pro772Ser) c.1576C>T (p.Pro526Ser) c.2359C>T (p.Pro787Ser) c.*2194C>T (n.*2194C>T) c.510C>T n.3538C>T n.2728C>T c.2542C>T (p.Pro848Ser) c.2497C>T (p.Pro833Ser) c.2452C>T (p.Pro818Ser) c.2521C>T (p.Pro841Ser) c.2506C>T (p.Pro836Ser) c.2485C>T (p.Pro829Ser) c.2479C>T (p.Pro827Ser) c.2434C>T (p.Pro812Ser) c.2425C>T (p.Pro809Ser) c.2401C>T (p.Pro801Ser) c.2395C>T (p.Pro799Ser) c.2368C>T (p.Pro790Ser) c.2362C>T (p.Pro788Ser) c.2356C>T (p.Pro786Ser) c.2305C>T (p.Pro769Ser) c.2224C>T (p.Pro742Ser) c.2308-227C>T (n.2308-227C>T) c.2146C>T (p.Pro716Ser) c.2208+1162C>T (n.2208+1162C>T) c.1366C>T (p.Pro456Ser) n.2642C>T | dbSNP |
17 | g.39724824del | CA2841124910 | ERBB2 | c.2406del (p.Tyr803MetfsTer5) c.2316del (p.Tyr773MetfsTer5) c.1578del (p.Tyr527MetfsTer5) c.2361del (p.Tyr788MetfsTer5) c.*2196del (n.*2196del) c.512del n.3540del n.2730del c.2544del (p.Tyr849MetfsTer5) c.2499del (p.Tyr834MetfsTer5) c.2454del (p.Tyr819MetfsTer5) c.2523del (p.Tyr842MetfsTer5) c.2508del (p.Tyr837MetfsTer5) c.2487del (p.Tyr830MetfsTer5) c.2481del (p.Tyr828MetfsTer5) c.2436del (p.Tyr813MetfsTer5) c.2427del (p.Tyr810MetfsTer5) c.2403del (p.Tyr802MetfsTer5) c.2397del (p.Tyr800MetfsTer5) c.2370del (p.Tyr791MetfsTer5) c.2364del (p.Tyr789MetfsTer5) c.2358del (p.Tyr787MetfsTer5) c.2307del (p.Tyr770MetfsTer5) c.2226del (p.Tyr743MetfsTer5) c.2308-225del (n.2308-225del) c.2148del (p.Tyr717MetfsTer5) c.2208+1164del (n.2208+1164del) c.1368del (p.Tyr457MetfsTer5) n.2644del | |
17 | g.39724823_39724824del | CA2637621645 | ERBB2 | c.2405_2406del (p.Pro802LeufsTer?) c.2315_2316del (p.Pro772LeufsTer?) c.1577_1578del (p.Pro526LeufsTer?) c.2360_2361del (p.Pro787LeufsTer?) c.*2195_*2196del (n.*2195_*2196del) c.511_512del n.3539_3540del n.2729_2730del c.2543_2544del (p.Pro848LeufsTer?) c.2498_2499del (p.Pro833LeufsTer?) c.2453_2454del (p.Pro818LeufsTer?) c.2522_2523del (p.Pro841LeufsTer?) c.2507_2508del (p.Pro836LeufsTer?) c.2486_2487del (p.Pro829LeufsTer?) c.2480_2481del (p.Pro827LeufsTer?) c.2435_2436del (p.Pro812LeufsTer?) c.2426_2427del (p.Pro809LeufsTer?) c.2402_2403del (p.Pro801LeufsTer?) c.2396_2397del (p.Pro799LeufsTer?) c.2369_2370del (p.Pro790LeufsTer?) c.2363_2364del (p.Pro788LeufsTer?) c.2357_2358del (p.Pro786LeufsTer?) c.2306_2307del (p.Pro769LeufsTer?) c.2225_2226del (p.Pro742LeufsTer?) c.2308-226_2308-225del (n.2308-226_2308-225del) c.2147_2148del (p.Pro716LeufsTer?) c.2208+1163_2208+1164del (n.2208+1163_2208+1164del) c.1367_1368del (p.Pro456LeufsTer?) n.2643_2644del | gnomAD v4 |
17 | g.39724823C>A | CA399303314 | ERBB2 | c.2405C>A (p.Pro802His) c.2315C>A (p.Pro772His) c.1577C>A (p.Pro526His) c.2360C>A (p.Pro787His) c.*2195C>A (n.*2195C>A) c.511C>A n.3539C>A n.2729C>A c.2543C>A (p.Pro848His) c.2498C>A (p.Pro833His) c.2453C>A (p.Pro818His) c.2522C>A (p.Pro841His) c.2507C>A (p.Pro836His) c.2486C>A (p.Pro829His) c.2480C>A (p.Pro827His) c.2435C>A (p.Pro812His) c.2426C>A (p.Pro809His) c.2402C>A (p.Pro801His) c.2396C>A (p.Pro799His) c.2369C>A (p.Pro790His) c.2363C>A (p.Pro788His) c.2357C>A (p.Pro786His) c.2306C>A (p.Pro769His) c.2225C>A (p.Pro742His) c.2308-226C>A (n.2308-226C>A) c.2147C>A (p.Pro716His) c.2208+1163C>A (n.2208+1163C>A) c.1367C>A (p.Pro456His) n.2643C>A | dbSNP |
17 | g.39724823C>G | CA399303316 | ERBB2 | c.2405C>G (p.Pro802Arg) c.2315C>G (p.Pro772Arg) c.1577C>G (p.Pro526Arg) c.2360C>G (p.Pro787Arg) c.*2195C>G (n.*2195C>G) c.511C>G n.3539C>G n.2729C>G c.2543C>G (p.Pro848Arg) c.2498C>G (p.Pro833Arg) c.2453C>G (p.Pro818Arg) c.2522C>G (p.Pro841Arg) c.2507C>G (p.Pro836Arg) c.2486C>G (p.Pro829Arg) c.2480C>G (p.Pro827Arg) c.2435C>G (p.Pro812Arg) c.2426C>G (p.Pro809Arg) c.2402C>G (p.Pro801Arg) c.2396C>G (p.Pro799Arg) c.2369C>G (p.Pro790Arg) c.2363C>G (p.Pro788Arg) c.2357C>G (p.Pro786Arg) c.2306C>G (p.Pro769Arg) c.2225C>G (p.Pro742Arg) c.2308-226C>G (n.2308-226C>G) c.2147C>G (p.Pro716Arg) c.2208+1163C>G (n.2208+1163C>G) c.1367C>G (p.Pro456Arg) n.2643C>G | dbSNP |
17 | g.39724823C>T | CA399303319 | ERBB2 | c.2405C>T (p.Pro802Leu) c.2315C>T (p.Pro772Leu) c.1577C>T (p.Pro526Leu) c.2360C>T (p.Pro787Leu) c.*2195C>T (n.*2195C>T) c.511C>T n.3539C>T n.2729C>T c.2543C>T (p.Pro848Leu) c.2498C>T (p.Pro833Leu) c.2453C>T (p.Pro818Leu) c.2522C>T (p.Pro841Leu) c.2507C>T (p.Pro836Leu) c.2486C>T (p.Pro829Leu) c.2480C>T (p.Pro827Leu) c.2435C>T (p.Pro812Leu) c.2426C>T (p.Pro809Leu) c.2402C>T (p.Pro801Leu) c.2396C>T (p.Pro799Leu) c.2369C>T (p.Pro790Leu) c.2363C>T (p.Pro788Leu) c.2357C>T (p.Pro786Leu) c.2306C>T (p.Pro769Leu) c.2225C>T (p.Pro742Leu) c.2308-226C>T (n.2308-226C>T) c.2147C>T (p.Pro716Leu) c.2208+1163C>T (n.2208+1163C>T) c.1367C>T (p.Pro456Leu) n.2643C>T | ClinVar dbSNP |
17 | g.39724824C>A | CA499670902 | ERBB2 | c.2406C>A (p.Pro802=) c.2316C>A (p.Pro772=) c.1578C>A (p.Pro526=) c.2361C>A (p.Pro787=) c.*2196C>A (n.*2196C>A) c.512C>A n.3540C>A n.2730C>A c.2544C>A (p.Pro848=) c.2499C>A (p.Pro833=) c.2454C>A (p.Pro818=) c.2523C>A (p.Pro841=) c.2508C>A (p.Pro836=) c.2487C>A (p.Pro829=) c.2481C>A (p.Pro827=) c.2436C>A (p.Pro812=) c.2427C>A (p.Pro809=) c.2403C>A (p.Pro801=) c.2397C>A (p.Pro799=) c.2370C>A (p.Pro790=) c.2364C>A (p.Pro788=) c.2358C>A (p.Pro786=) c.2307C>A (p.Pro769=) c.2226C>A (p.Pro742=) c.2308-225C>A (n.2308-225C>A) c.2148C>A (p.Pro716=) c.2208+1164C>A (n.2208+1164C>A) c.1368C>A (p.Pro456=) n.2644C>A | dbSNP |
17 | g.39724824C= | CA2259228018 | ERBB2 | c.2406C= (p.Pro802=) c.2316C= (p.Pro772=) c.1578C= (p.Pro526=) c.2361C= (p.Pro787=) c.*2196C= (n.*2196C=) c.512C= n.3540C= n.2730C= c.2544C= (p.Pro848=) c.2499C= (p.Pro833=) c.2454C= (p.Pro818=) c.2523C= (p.Pro841=) c.2508C= (p.Pro836=) c.2487C= (p.Pro829=) c.2481C= (p.Pro827=) c.2436C= (p.Pro812=) c.2427C= (p.Pro809=) c.2403C= (p.Pro801=) c.2397C= (p.Pro799=) c.2370C= (p.Pro790=) c.2364C= (p.Pro788=) c.2358C= (p.Pro786=) c.2307C= (p.Pro769=) c.2226C= (p.Pro742=) c.2308-225C= (n.2308-225C=) c.2148C= (p.Pro716=) c.2208+1164C= (n.2208+1164C=) c.1368C= (p.Pro456=) n.2644C= | |
17 | g.39724824C>G | CA499670901 | ERBB2 | c.2406C>G (p.Pro802=) c.2316C>G (p.Pro772=) c.1578C>G (p.Pro526=) c.2361C>G (p.Pro787=) c.*2196C>G (n.*2196C>G) c.512C>G n.3540C>G n.2730C>G c.2544C>G (p.Pro848=) c.2499C>G (p.Pro833=) c.2454C>G (p.Pro818=) c.2523C>G (p.Pro841=) c.2508C>G (p.Pro836=) c.2487C>G (p.Pro829=) c.2481C>G (p.Pro827=) c.2436C>G (p.Pro812=) c.2427C>G (p.Pro809=) c.2403C>G (p.Pro801=) c.2397C>G (p.Pro799=) c.2370C>G (p.Pro790=) c.2364C>G (p.Pro788=) c.2358C>G (p.Pro786=) c.2307C>G (p.Pro769=) c.2226C>G (p.Pro742=) c.2308-225C>G (n.2308-225C>G) c.2148C>G (p.Pro716=) c.2208+1164C>G (n.2208+1164C>G) c.1368C>G (p.Pro456=) n.2644C>G | dbSNP |
17 | g.39724824C>T | CA499670900 | ERBB2 | c.2406C>T (p.Pro802=) c.2316C>T (p.Pro772=) c.1578C>T (p.Pro526=) c.2361C>T (p.Pro787=) c.*2196C>T (n.*2196C>T) c.512C>T n.3540C>T n.2730C>T c.2544C>T (p.Pro848=) c.2499C>T (p.Pro833=) c.2454C>T (p.Pro818=) c.2523C>T (p.Pro841=) c.2508C>T (p.Pro836=) c.2487C>T (p.Pro829=) c.2481C>T (p.Pro827=) c.2436C>T (p.Pro812=) c.2427C>T (p.Pro809=) c.2403C>T (p.Pro801=) c.2397C>T (p.Pro799=) c.2370C>T (p.Pro790=) c.2364C>T (p.Pro788=) c.2358C>T (p.Pro786=) c.2307C>T (p.Pro769=) c.2226C>T (p.Pro742=) c.2308-225C>T (n.2308-225C>T) c.2148C>T (p.Pro716=) c.2208+1164C>T (n.2208+1164C>T) c.1368C>T (p.Pro456=) n.2644C>T | dbSNP |
17 | g.39724825T>A | CA399303321 | ERBB2 | c.2407T>A (p.Tyr803Asn) c.2317T>A (p.Tyr773Asn) c.1579T>A (p.Tyr527Asn) c.2362T>A (p.Tyr788Asn) c.*2197T>A (n.*2197T>A) c.513T>A n.3541T>A n.2731T>A c.2545T>A (p.Tyr849Asn) c.2500T>A (p.Tyr834Asn) c.2455T>A (p.Tyr819Asn) c.2524T>A (p.Tyr842Asn) c.2509T>A (p.Tyr837Asn) c.2488T>A (p.Tyr830Asn) c.2482T>A (p.Tyr828Asn) c.2437T>A (p.Tyr813Asn) c.2428T>A (p.Tyr810Asn) c.2404T>A (p.Tyr802Asn) c.2398T>A (p.Tyr800Asn) c.2371T>A (p.Tyr791Asn) c.2365T>A (p.Tyr789Asn) c.2359T>A (p.Tyr787Asn) c.2308T>A (p.Tyr770Asn) c.2227T>A (p.Tyr743Asn) c.2308-224T>A (n.2308-224T>A) c.2149T>A (p.Tyr717Asn) c.2208+1165T>A (n.2208+1165T>A) c.1369T>A (p.Tyr457Asn) n.2645T>A | dbSNP |
17 | g.39724825T>C | CA290440567 | ERBB2 | c.2407T>C (p.Tyr803His) c.2317T>C (p.Tyr773His) c.1579T>C (p.Tyr527His) c.2362T>C (p.Tyr788His) c.*2197T>C (n.*2197T>C) c.513T>C n.3541T>C n.2731T>C c.2545T>C (p.Tyr849His) c.2500T>C (p.Tyr834His) c.2455T>C (p.Tyr819His) c.2524T>C (p.Tyr842His) c.2509T>C (p.Tyr837His) c.2488T>C (p.Tyr830His) c.2482T>C (p.Tyr828His) c.2437T>C (p.Tyr813His) c.2428T>C (p.Tyr810His) c.2404T>C (p.Tyr802His) c.2398T>C (p.Tyr800His) c.2371T>C (p.Tyr791His) c.2365T>C (p.Tyr789His) c.2359T>C (p.Tyr787His) c.2308T>C (p.Tyr770His) c.2227T>C (p.Tyr743His) c.2308-224T>C (n.2308-224T>C) c.2149T>C (p.Tyr717His) c.2208+1165T>C (n.2208+1165T>C) c.1369T>C (p.Tyr457His) n.2645T>C | dbSNP gnomAD v4 |
17 | g.39724825T>G | CA399303324 | ERBB2 | c.2407T>G (p.Tyr803Asp) c.2317T>G (p.Tyr773Asp) c.1579T>G (p.Tyr527Asp) c.2362T>G (p.Tyr788Asp) c.*2197T>G (n.*2197T>G) c.513T>G n.3541T>G n.2731T>G c.2545T>G (p.Tyr849Asp) c.2500T>G (p.Tyr834Asp) c.2455T>G (p.Tyr819Asp) c.2524T>G (p.Tyr842Asp) c.2509T>G (p.Tyr837Asp) c.2488T>G (p.Tyr830Asp) c.2482T>G (p.Tyr828Asp) c.2437T>G (p.Tyr813Asp) c.2428T>G (p.Tyr810Asp) c.2404T>G (p.Tyr802Asp) c.2398T>G (p.Tyr800Asp) c.2371T>G (p.Tyr791Asp) c.2365T>G (p.Tyr789Asp) c.2359T>G (p.Tyr787Asp) c.2308T>G (p.Tyr770Asp) c.2227T>G (p.Tyr743Asp) c.2308-224T>G (n.2308-224T>G) c.2149T>G (p.Tyr717Asp) c.2208+1165T>G (n.2208+1165T>G) c.1369T>G (p.Tyr457Asp) n.2645T>G | |
17 | g.39724825T= | CA2259228019 | ERBB2 | c.2407T= (p.Tyr803=) c.2317T= (p.Tyr773=) c.1579T= (p.Tyr527=) c.2362T= (p.Tyr788=) c.*2197T= (n.*2197T=) c.513T= n.3541T= n.2731T= c.2545T= (p.Tyr849=) c.2500T= (p.Tyr834=) c.2455T= (p.Tyr819=) c.2524T= (p.Tyr842=) c.2509T= (p.Tyr837=) c.2488T= (p.Tyr830=) c.2482T= (p.Tyr828=) c.2437T= (p.Tyr813=) c.2428T= (p.Tyr810=) c.2404T= (p.Tyr802=) c.2398T= (p.Tyr800=) c.2371T= (p.Tyr791=) c.2365T= (p.Tyr789=) c.2359T= (p.Tyr787=) c.2308T= (p.Tyr770=) c.2227T= (p.Tyr743=) c.2308-224T= (n.2308-224T=) c.2149T= (p.Tyr717=) c.2208+1165T= (n.2208+1165T=) c.1369T= (p.Tyr457=) n.2645T= | |
17 | g.39724826A= | CA2259228020 | ERBB2 | c.2408A= (p.Tyr803=) c.2318A= (p.Tyr773=) c.1580A= (p.Tyr527=) c.2363A= (p.Tyr788=) c.*2198A= (n.*2198A=) c.514A= n.3542A= n.2732A= c.2546A= (p.Tyr849=) c.2501A= (p.Tyr834=) c.2456A= (p.Tyr819=) c.2525A= (p.Tyr842=) c.2510A= (p.Tyr837=) c.2489A= (p.Tyr830=) c.2483A= (p.Tyr828=) c.2438A= (p.Tyr813=) c.2429A= (p.Tyr810=) c.2405A= (p.Tyr802=) c.2399A= (p.Tyr800=) c.2372A= (p.Tyr791=) c.2366A= (p.Tyr789=) c.2360A= (p.Tyr787=) c.2309A= (p.Tyr770=) c.2228A= (p.Tyr743=) c.2308-223A= (n.2308-223A=) c.2150A= (p.Tyr717=) c.2208+1166A= (n.2208+1166A=) c.1370A= (p.Tyr457=) n.2646A= | |
17 | g.39724826A>C | CA399303330 | ERBB2 | c.2408A>C (p.Tyr803Ser) c.2318A>C (p.Tyr773Ser) c.1580A>C (p.Tyr527Ser) c.2363A>C (p.Tyr788Ser) c.*2198A>C (n.*2198A>C) c.514A>C n.3542A>C n.2732A>C c.2546A>C (p.Tyr849Ser) c.2501A>C (p.Tyr834Ser) c.2456A>C (p.Tyr819Ser) c.2525A>C (p.Tyr842Ser) c.2510A>C (p.Tyr837Ser) c.2489A>C (p.Tyr830Ser) c.2483A>C (p.Tyr828Ser) c.2438A>C (p.Tyr813Ser) c.2429A>C (p.Tyr810Ser) c.2405A>C (p.Tyr802Ser) c.2399A>C (p.Tyr800Ser) c.2372A>C (p.Tyr791Ser) c.2366A>C (p.Tyr789Ser) c.2360A>C (p.Tyr787Ser) c.2309A>C (p.Tyr770Ser) c.2228A>C (p.Tyr743Ser) c.2308-223A>C (n.2308-223A>C) c.2150A>C (p.Tyr717Ser) c.2208+1166A>C (n.2208+1166A>C) c.1370A>C (p.Tyr457Ser) n.2646A>C | dbSNP |
17 | g.39724826A>G | CA8534294 | ERBB2 | c.2408A>G (p.Tyr803Cys) c.2318A>G (p.Tyr773Cys) c.1580A>G (p.Tyr527Cys) c.2363A>G (p.Tyr788Cys) c.*2198A>G (n.*2198A>G) c.514A>G n.3542A>G n.2732A>G c.2546A>G (p.Tyr849Cys) c.2501A>G (p.Tyr834Cys) c.2456A>G (p.Tyr819Cys) c.2525A>G (p.Tyr842Cys) c.2510A>G (p.Tyr837Cys) c.2489A>G (p.Tyr830Cys) c.2483A>G (p.Tyr828Cys) c.2438A>G (p.Tyr813Cys) c.2429A>G (p.Tyr810Cys) c.2405A>G (p.Tyr802Cys) c.2399A>G (p.Tyr800Cys) c.2372A>G (p.Tyr791Cys) c.2366A>G (p.Tyr789Cys) c.2360A>G (p.Tyr787Cys) c.2309A>G (p.Tyr770Cys) c.2228A>G (p.Tyr743Cys) c.2308-223A>G (n.2308-223A>G) c.2150A>G (p.Tyr717Cys) c.2208+1166A>G (n.2208+1166A>G) c.1370A>G (p.Tyr457Cys) n.2646A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724826A>T | CA399303328 | ERBB2 | c.2408A>T (p.Tyr803Phe) c.2318A>T (p.Tyr773Phe) c.1580A>T (p.Tyr527Phe) c.2363A>T (p.Tyr788Phe) c.*2198A>T (n.*2198A>T) c.514A>T n.3542A>T n.2732A>T c.2546A>T (p.Tyr849Phe) c.2501A>T (p.Tyr834Phe) c.2456A>T (p.Tyr819Phe) c.2525A>T (p.Tyr842Phe) c.2510A>T (p.Tyr837Phe) c.2489A>T (p.Tyr830Phe) c.2483A>T (p.Tyr828Phe) c.2438A>T (p.Tyr813Phe) c.2429A>T (p.Tyr810Phe) c.2405A>T (p.Tyr802Phe) c.2399A>T (p.Tyr800Phe) c.2372A>T (p.Tyr791Phe) c.2366A>T (p.Tyr789Phe) c.2360A>T (p.Tyr787Phe) c.2309A>T (p.Tyr770Phe) c.2228A>T (p.Tyr743Phe) c.2308-223A>T (n.2308-223A>T) c.2150A>T (p.Tyr717Phe) c.2208+1166A>T (n.2208+1166A>T) c.1370A>T (p.Tyr457Phe) n.2646A>T | dbSNP |
17 | g.39724827T>A | CA399303332 | ERBB2 | c.2409T>A (p.Tyr803Ter) c.2319T>A (p.Tyr773Ter) c.1581T>A (p.Tyr527Ter) c.2364T>A (p.Tyr788Ter) c.*2199T>A (n.*2199T>A) c.515T>A n.3543T>A n.2733T>A c.2547T>A (p.Tyr849Ter) c.2502T>A (p.Tyr834Ter) c.2457T>A (p.Tyr819Ter) c.2526T>A (p.Tyr842Ter) c.2511T>A (p.Tyr837Ter) c.2490T>A (p.Tyr830Ter) c.2484T>A (p.Tyr828Ter) c.2439T>A (p.Tyr813Ter) c.2430T>A (p.Tyr810Ter) c.2406T>A (p.Tyr802Ter) c.2400T>A (p.Tyr800Ter) c.2373T>A (p.Tyr791Ter) c.2367T>A (p.Tyr789Ter) c.2361T>A (p.Tyr787Ter) c.2310T>A (p.Tyr770Ter) c.2229T>A (p.Tyr743Ter) c.2308-222T>A (n.2308-222T>A) c.2151T>A (p.Tyr717Ter) c.2208+1167T>A (n.2208+1167T>A) c.1371T>A (p.Tyr457Ter) n.2647T>A | |
17 | g.39724827T>C | CA499670903 | ERBB2 | c.2409T>C (p.Tyr803=) c.2319T>C (p.Tyr773=) c.1581T>C (p.Tyr527=) c.2364T>C (p.Tyr788=) c.*2199T>C (n.*2199T>C) c.515T>C n.3543T>C n.2733T>C c.2547T>C (p.Tyr849=) c.2502T>C (p.Tyr834=) c.2457T>C (p.Tyr819=) c.2526T>C (p.Tyr842=) c.2511T>C (p.Tyr837=) c.2490T>C (p.Tyr830=) c.2484T>C (p.Tyr828=) c.2439T>C (p.Tyr813=) c.2430T>C (p.Tyr810=) c.2406T>C (p.Tyr802=) c.2400T>C (p.Tyr800=) c.2373T>C (p.Tyr791=) c.2367T>C (p.Tyr789=) c.2361T>C (p.Tyr787=) c.2310T>C (p.Tyr770=) c.2229T>C (p.Tyr743=) c.2308-222T>C (n.2308-222T>C) c.2151T>C (p.Tyr717=) c.2208+1167T>C (n.2208+1167T>C) c.1371T>C (p.Tyr457=) n.2647T>C | |
17 | g.39724827T>G | CA399303334 | ERBB2 | c.2409T>G (p.Tyr803Ter) c.2319T>G (p.Tyr773Ter) c.1581T>G (p.Tyr527Ter) c.2364T>G (p.Tyr788Ter) c.*2199T>G (n.*2199T>G) c.515T>G n.3543T>G n.2733T>G c.2547T>G (p.Tyr849Ter) c.2502T>G (p.Tyr834Ter) c.2457T>G (p.Tyr819Ter) c.2526T>G (p.Tyr842Ter) c.2511T>G (p.Tyr837Ter) c.2490T>G (p.Tyr830Ter) c.2484T>G (p.Tyr828Ter) c.2439T>G (p.Tyr813Ter) c.2430T>G (p.Tyr810Ter) c.2406T>G (p.Tyr802Ter) c.2400T>G (p.Tyr800Ter) c.2373T>G (p.Tyr791Ter) c.2367T>G (p.Tyr789Ter) c.2361T>G (p.Tyr787Ter) c.2310T>G (p.Tyr770Ter) c.2229T>G (p.Tyr743Ter) c.2308-222T>G (n.2308-222T>G) c.2151T>G (p.Tyr717Ter) c.2208+1167T>G (n.2208+1167T>G) c.1371T>G (p.Tyr457Ter) n.2647T>G | |
17 | g.39724828G>A | CA399303336 | ERBB2 | c.2410G>A (p.Gly804Ser) c.2320G>A (p.Gly774Ser) c.1582G>A (p.Gly528Ser) c.2365G>A (p.Gly789Ser) c.*2200G>A (n.*2200G>A) c.516G>A n.3544G>A n.2734G>A c.2548G>A (p.Gly850Ser) c.2503G>A (p.Gly835Ser) c.2458G>A (p.Gly820Ser) c.2527G>A (p.Gly843Ser) c.2512G>A (p.Gly838Ser) c.2491G>A (p.Gly831Ser) c.2485G>A (p.Gly829Ser) c.2440G>A (p.Gly814Ser) c.2431G>A (p.Gly811Ser) c.2407G>A (p.Gly803Ser) c.2401G>A (p.Gly801Ser) c.2374G>A (p.Gly792Ser) c.2368G>A (p.Gly790Ser) c.2362G>A (p.Gly788Ser) c.2311G>A (p.Gly771Ser) c.2230G>A (p.Gly744Ser) c.2308-221G>A (n.2308-221G>A) c.2152G>A (p.Gly718Ser) c.2208+1168G>A (n.2208+1168G>A) c.1372G>A (p.Gly458Ser) n.2648G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724828G>C | CA399303339 | ERBB2 | c.2410G>C (p.Gly804Arg) c.2320G>C (p.Gly774Arg) c.1582G>C (p.Gly528Arg) c.2365G>C (p.Gly789Arg) c.*2200G>C (n.*2200G>C) c.516G>C n.3544G>C n.2734G>C c.2548G>C (p.Gly850Arg) c.2503G>C (p.Gly835Arg) c.2458G>C (p.Gly820Arg) c.2527G>C (p.Gly843Arg) c.2512G>C (p.Gly838Arg) c.2491G>C (p.Gly831Arg) c.2485G>C (p.Gly829Arg) c.2440G>C (p.Gly814Arg) c.2431G>C (p.Gly811Arg) c.2407G>C (p.Gly803Arg) c.2401G>C (p.Gly801Arg) c.2374G>C (p.Gly792Arg) c.2368G>C (p.Gly790Arg) c.2362G>C (p.Gly788Arg) c.2311G>C (p.Gly771Arg) c.2230G>C (p.Gly744Arg) c.2308-221G>C (n.2308-221G>C) c.2152G>C (p.Gly718Arg) c.2208+1168G>C (n.2208+1168G>C) c.1372G>C (p.Gly458Arg) n.2648G>C | dbSNP |
17 | g.39724828G= | CA2259228021 | ERBB2 | c.2410G= (p.Gly804=) c.2320G= (p.Gly774=) c.1582G= (p.Gly528=) c.2365G= (p.Gly789=) c.*2200G= (n.*2200G=) c.516G= n.3544G= n.2734G= c.2548G= (p.Gly850=) c.2503G= (p.Gly835=) c.2458G= (p.Gly820=) c.2527G= (p.Gly843=) c.2512G= (p.Gly838=) c.2491G= (p.Gly831=) c.2485G= (p.Gly829=) c.2440G= (p.Gly814=) c.2431G= (p.Gly811=) c.2407G= (p.Gly803=) c.2401G= (p.Gly801=) c.2374G= (p.Gly792=) c.2368G= (p.Gly790=) c.2362G= (p.Gly788=) c.2311G= (p.Gly771=) c.2230G= (p.Gly744=) c.2308-221G= (n.2308-221G=) c.2152G= (p.Gly718=) c.2208+1168G= (n.2208+1168G=) c.1372G= (p.Gly458=) n.2648G= | |
17 | g.39724828G>T | CA399303341 | ERBB2 | c.2410G>T (p.Gly804Cys) c.2320G>T (p.Gly774Cys) c.1582G>T (p.Gly528Cys) c.2365G>T (p.Gly789Cys) c.*2200G>T (n.*2200G>T) c.516G>T n.3544G>T n.2734G>T c.2548G>T (p.Gly850Cys) c.2503G>T (p.Gly835Cys) c.2458G>T (p.Gly820Cys) c.2527G>T (p.Gly843Cys) c.2512G>T (p.Gly838Cys) c.2491G>T (p.Gly831Cys) c.2485G>T (p.Gly829Cys) c.2440G>T (p.Gly814Cys) c.2431G>T (p.Gly811Cys) c.2407G>T (p.Gly803Cys) c.2401G>T (p.Gly801Cys) c.2374G>T (p.Gly792Cys) c.2368G>T (p.Gly790Cys) c.2362G>T (p.Gly788Cys) c.2311G>T (p.Gly771Cys) c.2230G>T (p.Gly744Cys) c.2308-221G>T (n.2308-221G>T) c.2152G>T (p.Gly718Cys) c.2208+1168G>T (n.2208+1168G>T) c.1372G>T (p.Gly458Cys) n.2648G>T | gnomAD v4 |
17 | g.39724829G>A | CA399303344 | ERBB2 | c.2411G>A (p.Gly804Asp) c.2321G>A (p.Gly774Asp) c.1583G>A (p.Gly528Asp) c.2366G>A (p.Gly789Asp) c.*2201G>A (n.*2201G>A) c.517G>A n.3545G>A n.2735G>A c.2549G>A (p.Gly850Asp) c.2504G>A (p.Gly835Asp) c.2459G>A (p.Gly820Asp) c.2528G>A (p.Gly843Asp) c.2513G>A (p.Gly838Asp) c.2492G>A (p.Gly831Asp) c.2486G>A (p.Gly829Asp) c.2441G>A (p.Gly814Asp) c.2432G>A (p.Gly811Asp) c.2408G>A (p.Gly803Asp) c.2402G>A (p.Gly801Asp) c.2375G>A (p.Gly792Asp) c.2369G>A (p.Gly790Asp) c.2363G>A (p.Gly788Asp) c.2312G>A (p.Gly771Asp) c.2231G>A (p.Gly744Asp) c.2308-220G>A (n.2308-220G>A) c.2153G>A (p.Gly718Asp) c.2208+1169G>A (n.2208+1169G>A) c.1373G>A (p.Gly458Asp) n.2649G>A | dbSNP |
17 | g.39724829G>C | CA399303346 | ERBB2 | c.2411G>C (p.Gly804Ala) c.2321G>C (p.Gly774Ala) c.1583G>C (p.Gly528Ala) c.2366G>C (p.Gly789Ala) c.*2201G>C (n.*2201G>C) c.517G>C n.3545G>C n.2735G>C c.2549G>C (p.Gly850Ala) c.2504G>C (p.Gly835Ala) c.2459G>C (p.Gly820Ala) c.2528G>C (p.Gly843Ala) c.2513G>C (p.Gly838Ala) c.2492G>C (p.Gly831Ala) c.2486G>C (p.Gly829Ala) c.2441G>C (p.Gly814Ala) c.2432G>C (p.Gly811Ala) c.2408G>C (p.Gly803Ala) c.2402G>C (p.Gly801Ala) c.2375G>C (p.Gly792Ala) c.2369G>C (p.Gly790Ala) c.2363G>C (p.Gly788Ala) c.2312G>C (p.Gly771Ala) c.2231G>C (p.Gly744Ala) c.2308-220G>C (n.2308-220G>C) c.2153G>C (p.Gly718Ala) c.2208+1169G>C (n.2208+1169G>C) c.1373G>C (p.Gly458Ala) n.2649G>C | dbSNP |
17 | g.39724829G>T | CA399303348 | ERBB2 | c.2411G>T (p.Gly804Val) c.2321G>T (p.Gly774Val) c.1583G>T (p.Gly528Val) c.2366G>T (p.Gly789Val) c.*2201G>T (n.*2201G>T) c.517G>T n.3545G>T n.2735G>T c.2549G>T (p.Gly850Val) c.2504G>T (p.Gly835Val) c.2459G>T (p.Gly820Val) c.2528G>T (p.Gly843Val) c.2513G>T (p.Gly838Val) c.2492G>T (p.Gly831Val) c.2486G>T (p.Gly829Val) c.2441G>T (p.Gly814Val) c.2432G>T (p.Gly811Val) c.2408G>T (p.Gly803Val) c.2402G>T (p.Gly801Val) c.2375G>T (p.Gly792Val) c.2369G>T (p.Gly790Val) c.2363G>T (p.Gly788Val) c.2312G>T (p.Gly771Val) c.2231G>T (p.Gly744Val) c.2308-220G>T (n.2308-220G>T) c.2153G>T (p.Gly718Val) c.2208+1169G>T (n.2208+1169G>T) c.1373G>T (p.Gly458Val) n.2649G>T | dbSNP |
17 | g.39724830C>A | CA499670904 | ERBB2 | c.2412C>A (p.Gly804=) c.2322C>A (p.Gly774=) c.1584C>A (p.Gly528=) c.2367C>A (p.Gly789=) c.*2202C>A (n.*2202C>A) c.518C>A n.3546C>A n.2736C>A c.2550C>A (p.Gly850=) c.2505C>A (p.Gly835=) c.2460C>A (p.Gly820=) c.2529C>A (p.Gly843=) c.2514C>A (p.Gly838=) c.2493C>A (p.Gly831=) c.2487C>A (p.Gly829=) c.2442C>A (p.Gly814=) c.2433C>A (p.Gly811=) c.2409C>A (p.Gly803=) c.2403C>A (p.Gly801=) c.2376C>A (p.Gly792=) c.2370C>A (p.Gly790=) c.2364C>A (p.Gly788=) c.2313C>A (p.Gly771=) c.2232C>A (p.Gly744=) c.2308-219C>A (n.2308-219C>A) c.2154C>A (p.Gly718=) c.2208+1170C>A (n.2208+1170C>A) c.1374C>A (p.Gly458=) n.2650C>A | dbSNP |
17 | g.39724830C= | CA2259228022 | ERBB2 | c.2412C= (p.Gly804=) c.2322C= (p.Gly774=) c.1584C= (p.Gly528=) c.2367C= (p.Gly789=) c.*2202C= (n.*2202C=) c.518C= n.3546C= n.2736C= c.2550C= (p.Gly850=) c.2505C= (p.Gly835=) c.2460C= (p.Gly820=) c.2529C= (p.Gly843=) c.2514C= (p.Gly838=) c.2493C= (p.Gly831=) c.2487C= (p.Gly829=) c.2442C= (p.Gly814=) c.2433C= (p.Gly811=) c.2409C= (p.Gly803=) c.2403C= (p.Gly801=) c.2376C= (p.Gly792=) c.2370C= (p.Gly790=) c.2364C= (p.Gly788=) c.2313C= (p.Gly771=) c.2232C= (p.Gly744=) c.2308-219C= (n.2308-219C=) c.2154C= (p.Gly718=) c.2208+1170C= (n.2208+1170C=) c.1374C= (p.Gly458=) n.2650C= | |
17 | g.39724830C>G | CA499670905 | ERBB2 | c.2412C>G (p.Gly804=) c.2322C>G (p.Gly774=) c.1584C>G (p.Gly528=) c.2367C>G (p.Gly789=) c.*2202C>G (n.*2202C>G) c.518C>G n.3546C>G n.2736C>G c.2550C>G (p.Gly850=) c.2505C>G (p.Gly835=) c.2460C>G (p.Gly820=) c.2529C>G (p.Gly843=) c.2514C>G (p.Gly838=) c.2493C>G (p.Gly831=) c.2487C>G (p.Gly829=) c.2442C>G (p.Gly814=) c.2433C>G (p.Gly811=) c.2409C>G (p.Gly803=) c.2403C>G (p.Gly801=) c.2376C>G (p.Gly792=) c.2370C>G (p.Gly790=) c.2364C>G (p.Gly788=) c.2313C>G (p.Gly771=) c.2232C>G (p.Gly744=) c.2308-219C>G (n.2308-219C>G) c.2154C>G (p.Gly718=) c.2208+1170C>G (n.2208+1170C>G) c.1374C>G (p.Gly458=) n.2650C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724830C>T | CA499670906 | ERBB2 | c.2412C>T (p.Gly804=) c.2322C>T (p.Gly774=) c.1584C>T (p.Gly528=) c.2367C>T (p.Gly789=) c.*2202C>T (n.*2202C>T) c.518C>T n.3546C>T n.2736C>T c.2550C>T (p.Gly850=) c.2505C>T (p.Gly835=) c.2460C>T (p.Gly820=) c.2529C>T (p.Gly843=) c.2514C>T (p.Gly838=) c.2493C>T (p.Gly831=) c.2487C>T (p.Gly829=) c.2442C>T (p.Gly814=) c.2433C>T (p.Gly811=) c.2409C>T (p.Gly803=) c.2403C>T (p.Gly801=) c.2376C>T (p.Gly792=) c.2370C>T (p.Gly790=) c.2364C>T (p.Gly788=) c.2313C>T (p.Gly771=) c.2232C>T (p.Gly744=) c.2308-219C>T (n.2308-219C>T) c.2154C>T (p.Gly718=) c.2208+1170C>T (n.2208+1170C>T) c.1374C>T (p.Gly458=) n.2650C>T | dbSNP |
17 | g.39724831T>A | CA399303352 | ERBB2 | c.2413T>A (p.Cys805Ser) c.2323T>A (p.Cys775Ser) c.1585T>A (p.Cys529Ser) c.2368T>A (p.Cys790Ser) c.*2203T>A (n.*2203T>A) c.519T>A n.3547T>A n.2737T>A c.2551T>A (p.Cys851Ser) c.2506T>A (p.Cys836Ser) c.2461T>A (p.Cys821Ser) c.2530T>A (p.Cys844Ser) c.2515T>A (p.Cys839Ser) c.2494T>A (p.Cys832Ser) c.2488T>A (p.Cys830Ser) c.2443T>A (p.Cys815Ser) c.2434T>A (p.Cys812Ser) c.2410T>A (p.Cys804Ser) c.2404T>A (p.Cys802Ser) c.2377T>A (p.Cys793Ser) c.2371T>A (p.Cys791Ser) c.2365T>A (p.Cys789Ser) c.2314T>A (p.Cys772Ser) c.2233T>A (p.Cys745Ser) c.2308-218T>A (n.2308-218T>A) c.2155T>A (p.Cys719Ser) c.2208+1171T>A (n.2208+1171T>A) c.1375T>A (p.Cys459Ser) n.2651T>A | dbSNP |
17 | g.39724831T>C | CA399303354 | ERBB2 | c.2413T>C (p.Cys805Arg) c.2323T>C (p.Cys775Arg) c.1585T>C (p.Cys529Arg) c.2368T>C (p.Cys790Arg) c.*2203T>C (n.*2203T>C) c.519T>C n.3547T>C n.2737T>C c.2551T>C (p.Cys851Arg) c.2506T>C (p.Cys836Arg) c.2461T>C (p.Cys821Arg) c.2530T>C (p.Cys844Arg) c.2515T>C (p.Cys839Arg) c.2494T>C (p.Cys832Arg) c.2488T>C (p.Cys830Arg) c.2443T>C (p.Cys815Arg) c.2434T>C (p.Cys812Arg) c.2410T>C (p.Cys804Arg) c.2404T>C (p.Cys802Arg) c.2377T>C (p.Cys793Arg) c.2371T>C (p.Cys791Arg) c.2365T>C (p.Cys789Arg) c.2314T>C (p.Cys772Arg) c.2233T>C (p.Cys745Arg) c.2308-218T>C (n.2308-218T>C) c.2155T>C (p.Cys719Arg) c.2208+1171T>C (n.2208+1171T>C) c.1375T>C (p.Cys459Arg) n.2651T>C | |
17 | g.39724831T>G | CA399303357 | ERBB2 | c.2413T>G (p.Cys805Gly) c.2323T>G (p.Cys775Gly) c.1585T>G (p.Cys529Gly) c.2368T>G (p.Cys790Gly) c.*2203T>G (n.*2203T>G) c.519T>G n.3547T>G n.2737T>G c.2551T>G (p.Cys851Gly) c.2506T>G (p.Cys836Gly) c.2461T>G (p.Cys821Gly) c.2530T>G (p.Cys844Gly) c.2515T>G (p.Cys839Gly) c.2494T>G (p.Cys832Gly) c.2488T>G (p.Cys830Gly) c.2443T>G (p.Cys815Gly) c.2434T>G (p.Cys812Gly) c.2410T>G (p.Cys804Gly) c.2404T>G (p.Cys802Gly) c.2377T>G (p.Cys793Gly) c.2371T>G (p.Cys791Gly) c.2365T>G (p.Cys789Gly) c.2314T>G (p.Cys772Gly) c.2233T>G (p.Cys745Gly) c.2308-218T>G (n.2308-218T>G) c.2155T>G (p.Cys719Gly) c.2208+1171T>G (n.2208+1171T>G) c.1375T>G (p.Cys459Gly) n.2651T>G | |
17 | g.39724832G>A | CA399303364 | ERBB2 | c.2414G>A (p.Cys805Tyr) c.2324G>A (p.Cys775Tyr) c.1586G>A (p.Cys529Tyr) c.2369G>A (p.Cys790Tyr) c.*2204G>A (n.*2204G>A) c.520G>A n.3548G>A n.2738G>A c.2552G>A (p.Cys851Tyr) c.2507G>A (p.Cys836Tyr) c.2462G>A (p.Cys821Tyr) c.2531G>A (p.Cys844Tyr) c.2516G>A (p.Cys839Tyr) c.2495G>A (p.Cys832Tyr) c.2489G>A (p.Cys830Tyr) c.2444G>A (p.Cys815Tyr) c.2435G>A (p.Cys812Tyr) c.2411G>A (p.Cys804Tyr) c.2405G>A (p.Cys802Tyr) c.2378G>A (p.Cys793Tyr) c.2372G>A (p.Cys791Tyr) c.2366G>A (p.Cys789Tyr) c.2315G>A (p.Cys772Tyr) c.2234G>A (p.Cys745Tyr) c.2308-217G>A (n.2308-217G>A) c.2156G>A (p.Cys719Tyr) c.2208+1172G>A (n.2208+1172G>A) c.1376G>A (p.Cys459Tyr) n.2652G>A | dbSNP |
17 | g.39724832G>C | CA399303362 | ERBB2 | c.2414G>C (p.Cys805Ser) c.2324G>C (p.Cys775Ser) c.1586G>C (p.Cys529Ser) c.2369G>C (p.Cys790Ser) c.*2204G>C (n.*2204G>C) c.520G>C n.3548G>C n.2738G>C c.2552G>C (p.Cys851Ser) c.2507G>C (p.Cys836Ser) c.2462G>C (p.Cys821Ser) c.2531G>C (p.Cys844Ser) c.2516G>C (p.Cys839Ser) c.2495G>C (p.Cys832Ser) c.2489G>C (p.Cys830Ser) c.2444G>C (p.Cys815Ser) c.2435G>C (p.Cys812Ser) c.2411G>C (p.Cys804Ser) c.2405G>C (p.Cys802Ser) c.2378G>C (p.Cys793Ser) c.2372G>C (p.Cys791Ser) c.2366G>C (p.Cys789Ser) c.2315G>C (p.Cys772Ser) c.2234G>C (p.Cys745Ser) c.2308-217G>C (n.2308-217G>C) c.2156G>C (p.Cys719Ser) c.2208+1172G>C (n.2208+1172G>C) c.1376G>C (p.Cys459Ser) n.2652G>C | dbSNP |
17 | g.39724832G>T | CA399303359 | ERBB2 | c.2414G>T (p.Cys805Phe) c.2324G>T (p.Cys775Phe) c.1586G>T (p.Cys529Phe) c.2369G>T (p.Cys790Phe) c.*2204G>T (n.*2204G>T) c.520G>T n.3548G>T n.2738G>T c.2552G>T (p.Cys851Phe) c.2507G>T (p.Cys836Phe) c.2462G>T (p.Cys821Phe) c.2531G>T (p.Cys844Phe) c.2516G>T (p.Cys839Phe) c.2495G>T (p.Cys832Phe) c.2489G>T (p.Cys830Phe) c.2444G>T (p.Cys815Phe) c.2435G>T (p.Cys812Phe) c.2411G>T (p.Cys804Phe) c.2405G>T (p.Cys802Phe) c.2378G>T (p.Cys793Phe) c.2372G>T (p.Cys791Phe) c.2366G>T (p.Cys789Phe) c.2315G>T (p.Cys772Phe) c.2234G>T (p.Cys745Phe) c.2308-217G>T (n.2308-217G>T) c.2156G>T (p.Cys719Phe) c.2208+1172G>T (n.2208+1172G>T) c.1376G>T (p.Cys459Phe) n.2652G>T | dbSNP |
17 | g.39724833C>A | CA399303370 | ERBB2 | c.2415C>A (p.Cys805Ter) c.2325C>A (p.Cys775Ter) c.1587C>A (p.Cys529Ter) c.2370C>A (p.Cys790Ter) c.*2205C>A (n.*2205C>A) c.521C>A n.3549C>A n.2739C>A c.2553C>A (p.Cys851Ter) c.2508C>A (p.Cys836Ter) c.2463C>A (p.Cys821Ter) c.2532C>A (p.Cys844Ter) c.2517C>A (p.Cys839Ter) c.2496C>A (p.Cys832Ter) c.2490C>A (p.Cys830Ter) c.2445C>A (p.Cys815Ter) c.2436C>A (p.Cys812Ter) c.2412C>A (p.Cys804Ter) c.2406C>A (p.Cys802Ter) c.2379C>A (p.Cys793Ter) c.2373C>A (p.Cys791Ter) c.2367C>A (p.Cys789Ter) c.2316C>A (p.Cys772Ter) c.2235C>A (p.Cys745Ter) c.2308-216C>A (n.2308-216C>A) c.2157C>A (p.Cys719Ter) c.2208+1173C>A (n.2208+1173C>A) c.1377C>A (p.Cys459Ter) n.2653C>A | |
17 | g.39724833C= | CA2259228023 | ERBB2 | c.2415C= (p.Cys805=) c.2325C= (p.Cys775=) c.1587C= (p.Cys529=) c.2370C= (p.Cys790=) c.*2205C= (n.*2205C=) c.521C= n.3549C= n.2739C= c.2553C= (p.Cys851=) c.2508C= (p.Cys836=) c.2463C= (p.Cys821=) c.2532C= (p.Cys844=) c.2517C= (p.Cys839=) c.2496C= (p.Cys832=) c.2490C= (p.Cys830=) c.2445C= (p.Cys815=) c.2436C= (p.Cys812=) c.2412C= (p.Cys804=) c.2406C= (p.Cys802=) c.2379C= (p.Cys793=) c.2373C= (p.Cys791=) c.2367C= (p.Cys789=) c.2316C= (p.Cys772=) c.2235C= (p.Cys745=) c.2308-216C= (n.2308-216C=) c.2157C= (p.Cys719=) c.2208+1173C= (n.2208+1173C=) c.1377C= (p.Cys459=) n.2653C= | |
17 | g.39724833C>G | CA399303373 | ERBB2 | c.2415C>G (p.Cys805Trp) c.2325C>G (p.Cys775Trp) c.1587C>G (p.Cys529Trp) c.2370C>G (p.Cys790Trp) c.*2205C>G (n.*2205C>G) c.521C>G n.3549C>G n.2739C>G c.2553C>G (p.Cys851Trp) c.2508C>G (p.Cys836Trp) c.2463C>G (p.Cys821Trp) c.2532C>G (p.Cys844Trp) c.2517C>G (p.Cys839Trp) c.2496C>G (p.Cys832Trp) c.2490C>G (p.Cys830Trp) c.2445C>G (p.Cys815Trp) c.2436C>G (p.Cys812Trp) c.2412C>G (p.Cys804Trp) c.2406C>G (p.Cys802Trp) c.2379C>G (p.Cys793Trp) c.2373C>G (p.Cys791Trp) c.2367C>G (p.Cys789Trp) c.2316C>G (p.Cys772Trp) c.2235C>G (p.Cys745Trp) c.2308-216C>G (n.2308-216C>G) c.2157C>G (p.Cys719Trp) c.2208+1173C>G (n.2208+1173C>G) c.1377C>G (p.Cys459Trp) n.2653C>G | dbSNP |
17 | g.39724833C>T | CA499670907 | ERBB2 | c.2415C>T (p.Cys805=) c.2325C>T (p.Cys775=) c.1587C>T (p.Cys529=) c.2370C>T (p.Cys790=) c.*2205C>T (n.*2205C>T) c.521C>T n.3549C>T n.2739C>T c.2553C>T (p.Cys851=) c.2508C>T (p.Cys836=) c.2463C>T (p.Cys821=) c.2532C>T (p.Cys844=) c.2517C>T (p.Cys839=) c.2496C>T (p.Cys832=) c.2490C>T (p.Cys830=) c.2445C>T (p.Cys815=) c.2436C>T (p.Cys812=) c.2412C>T (p.Cys804=) c.2406C>T (p.Cys802=) c.2379C>T (p.Cys793=) c.2373C>T (p.Cys791=) c.2367C>T (p.Cys789=) c.2316C>T (p.Cys772=) c.2235C>T (p.Cys745=) c.2308-216C>T (n.2308-216C>T) c.2157C>T (p.Cys719=) c.2208+1173C>T (n.2208+1173C>T) c.1377C>T (p.Cys459=) n.2653C>T | gnomAD v4 |
17 | g.39724834C>A | CA399303377 | ERBB2 | c.2416C>A (p.Leu806Ile) c.2326C>A (p.Leu776Ile) c.1588C>A (p.Leu530Ile) c.2371C>A (p.Leu791Ile) c.*2206C>A (n.*2206C>A) c.522C>A n.3550C>A n.2740C>A c.2554C>A (p.Leu852Ile) c.2509C>A (p.Leu837Ile) c.2464C>A (p.Leu822Ile) c.2533C>A (p.Leu845Ile) c.2518C>A (p.Leu840Ile) c.2497C>A (p.Leu833Ile) c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2437C>A (p.Leu813Ile) c.2413C>A (p.Leu805Ile) c.2407C>A (p.Leu803Ile) c.2380C>A (p.Leu794Ile) c.2374C>A (p.Leu792Ile) c.2368C>A (p.Leu790Ile) c.2317C>A (p.Leu773Ile) c.2236C>A (p.Leu746Ile) c.2308-215C>A (n.2308-215C>A) c.2158C>A (p.Leu720Ile) c.2208+1174C>A (n.2208+1174C>A) c.1378C>A (p.Leu460Ile) n.2654C>A | dbSNP |
17 | g.39724834C>G | CA399303382 | ERBB2 | c.2416C>G (p.Leu806Val) c.2326C>G (p.Leu776Val) c.1588C>G (p.Leu530Val) c.2371C>G (p.Leu791Val) c.*2206C>G (n.*2206C>G) c.522C>G n.3550C>G n.2740C>G c.2554C>G (p.Leu852Val) c.2509C>G (p.Leu837Val) c.2464C>G (p.Leu822Val) c.2533C>G (p.Leu845Val) c.2518C>G (p.Leu840Val) c.2497C>G (p.Leu833Val) c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2437C>G (p.Leu813Val) c.2413C>G (p.Leu805Val) c.2407C>G (p.Leu803Val) c.2380C>G (p.Leu794Val) c.2374C>G (p.Leu792Val) c.2368C>G (p.Leu790Val) c.2317C>G (p.Leu773Val) c.2236C>G (p.Leu746Val) c.2308-215C>G (n.2308-215C>G) c.2158C>G (p.Leu720Val) c.2208+1174C>G (n.2208+1174C>G) c.1378C>G (p.Leu460Val) n.2654C>G | dbSNP |
17 | g.39724834C>T | CA399303380 | ERBB2 | c.2416C>T (p.Leu806Phe) c.2326C>T (p.Leu776Phe) c.1588C>T (p.Leu530Phe) c.2371C>T (p.Leu791Phe) c.*2206C>T (n.*2206C>T) c.522C>T n.3550C>T n.2740C>T c.2554C>T (p.Leu852Phe) c.2509C>T (p.Leu837Phe) c.2464C>T (p.Leu822Phe) c.2533C>T (p.Leu845Phe) c.2518C>T (p.Leu840Phe) c.2497C>T (p.Leu833Phe) c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2437C>T (p.Leu813Phe) c.2413C>T (p.Leu805Phe) c.2407C>T (p.Leu803Phe) c.2380C>T (p.Leu794Phe) c.2374C>T (p.Leu792Phe) c.2368C>T (p.Leu790Phe) c.2317C>T (p.Leu773Phe) c.2236C>T (p.Leu746Phe) c.2308-215C>T (n.2308-215C>T) c.2158C>T (p.Leu720Phe) c.2208+1174C>T (n.2208+1174C>T) c.1378C>T (p.Leu460Phe) n.2654C>T | dbSNP gnomAD v4 |
17 | g.39724835T>A | CA399303385 | ERBB2 | c.2417T>A (p.Leu806His) c.2327T>A (p.Leu776His) c.1589T>A (p.Leu530His) c.2372T>A (p.Leu791His) c.*2207T>A (n.*2207T>A) c.523T>A n.3551T>A n.2741T>A c.2555T>A (p.Leu852His) c.2510T>A (p.Leu837His) c.2465T>A (p.Leu822His) c.2534T>A (p.Leu845His) c.2519T>A (p.Leu840His) c.2498T>A (p.Leu833His) c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2438T>A (p.Leu813His) c.2414T>A (p.Leu805His) c.2408T>A (p.Leu803His) c.2381T>A (p.Leu794His) c.2375T>A (p.Leu792His) c.2369T>A (p.Leu790His) c.2318T>A (p.Leu773His) c.2237T>A (p.Leu746His) c.2308-214T>A (n.2308-214T>A) c.2159T>A (p.Leu720His) c.2208+1175T>A (n.2208+1175T>A) c.1379T>A (p.Leu460His) n.2655T>A | dbSNP |
17 | g.39724835T>C | CA399303392 | ERBB2 | c.2417T>C (p.Leu806Pro) c.2327T>C (p.Leu776Pro) c.1589T>C (p.Leu530Pro) c.2372T>C (p.Leu791Pro) c.*2207T>C (n.*2207T>C) c.523T>C n.3551T>C n.2741T>C c.2555T>C (p.Leu852Pro) c.2510T>C (p.Leu837Pro) c.2465T>C (p.Leu822Pro) c.2534T>C (p.Leu845Pro) c.2519T>C (p.Leu840Pro) c.2498T>C (p.Leu833Pro) c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2438T>C (p.Leu813Pro) c.2414T>C (p.Leu805Pro) c.2408T>C (p.Leu803Pro) c.2381T>C (p.Leu794Pro) c.2375T>C (p.Leu792Pro) c.2369T>C (p.Leu790Pro) c.2318T>C (p.Leu773Pro) c.2237T>C (p.Leu746Pro) c.2308-214T>C (n.2308-214T>C) c.2159T>C (p.Leu720Pro) c.2208+1175T>C (n.2208+1175T>C) c.1379T>C (p.Leu460Pro) n.2655T>C | dbSNP |
17 | g.39724835T>G | CA399303395 | ERBB2 | c.2417T>G (p.Leu806Arg) c.2327T>G (p.Leu776Arg) c.1589T>G (p.Leu530Arg) c.2372T>G (p.Leu791Arg) c.*2207T>G (n.*2207T>G) c.523T>G n.3551T>G n.2741T>G c.2555T>G (p.Leu852Arg) c.2510T>G (p.Leu837Arg) c.2465T>G (p.Leu822Arg) c.2534T>G (p.Leu845Arg) c.2519T>G (p.Leu840Arg) c.2498T>G (p.Leu833Arg) c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2438T>G (p.Leu813Arg) c.2414T>G (p.Leu805Arg) c.2408T>G (p.Leu803Arg) c.2381T>G (p.Leu794Arg) c.2375T>G (p.Leu792Arg) c.2369T>G (p.Leu790Arg) c.2318T>G (p.Leu773Arg) c.2237T>G (p.Leu746Arg) c.2308-214T>G (n.2308-214T>G) c.2159T>G (p.Leu720Arg) c.2208+1175T>G (n.2208+1175T>G) c.1379T>G (p.Leu460Arg) n.2655T>G | |
17 | g.39724836C>A | CA499670908 | ERBB2 | c.2418C>A (p.Leu806=) c.2328C>A (p.Leu776=) c.1590C>A (p.Leu530=) c.2373C>A (p.Leu791=) c.*2208C>A (n.*2208C>A) c.524C>A n.3552C>A n.2742C>A c.2556C>A (p.Leu852=) c.2511C>A (p.Leu837=) c.2466C>A (p.Leu822=) c.2535C>A (p.Leu845=) c.2520C>A (p.Leu840=) c.2499C>A (p.Leu833=) c.2493C>A (p.Leu831=) c.2448C>A (p.Leu816=) c.2439C>A (p.Leu813=) c.2415C>A (p.Leu805=) c.2409C>A (p.Leu803=) c.2382C>A (p.Leu794=) c.2376C>A (p.Leu792=) c.2370C>A (p.Leu790=) c.2319C>A (p.Leu773=) c.2238C>A (p.Leu746=) c.2308-213C>A (n.2308-213C>A) c.2160C>A (p.Leu720=) c.2208+1176C>A (n.2208+1176C>A) c.1380C>A (p.Leu460=) n.2656C>A | |
17 | g.39724836C>G | CA499670909 | ERBB2 | c.2418C>G (p.Leu806=) c.2328C>G (p.Leu776=) c.1590C>G (p.Leu530=) c.2373C>G (p.Leu791=) c.*2208C>G (n.*2208C>G) c.524C>G n.3552C>G n.2742C>G c.2556C>G (p.Leu852=) c.2511C>G (p.Leu837=) c.2466C>G (p.Leu822=) c.2535C>G (p.Leu845=) c.2520C>G (p.Leu840=) c.2499C>G (p.Leu833=) c.2493C>G (p.Leu831=) c.2448C>G (p.Leu816=) c.2439C>G (p.Leu813=) c.2415C>G (p.Leu805=) c.2409C>G (p.Leu803=) c.2382C>G (p.Leu794=) c.2376C>G (p.Leu792=) c.2370C>G (p.Leu790=) c.2319C>G (p.Leu773=) c.2238C>G (p.Leu746=) c.2308-213C>G (n.2308-213C>G) c.2160C>G (p.Leu720=) c.2208+1176C>G (n.2208+1176C>G) c.1380C>G (p.Leu460=) n.2656C>G | |
17 | g.39724836C>T | CA499670910 | ERBB2 | c.2418C>T (p.Leu806=) c.2328C>T (p.Leu776=) c.1590C>T (p.Leu530=) c.2373C>T (p.Leu791=) c.*2208C>T (n.*2208C>T) c.524C>T n.3552C>T n.2742C>T c.2556C>T (p.Leu852=) c.2511C>T (p.Leu837=) c.2466C>T (p.Leu822=) c.2535C>T (p.Leu845=) c.2520C>T (p.Leu840=) c.2499C>T (p.Leu833=) c.2493C>T (p.Leu831=) c.2448C>T (p.Leu816=) c.2439C>T (p.Leu813=) c.2415C>T (p.Leu805=) c.2409C>T (p.Leu803=) c.2382C>T (p.Leu794=) c.2376C>T (p.Leu792=) c.2370C>T (p.Leu790=) c.2319C>T (p.Leu773=) c.2238C>T (p.Leu746=) c.2308-213C>T (n.2308-213C>T) c.2160C>T (p.Leu720=) c.2208+1176C>T (n.2208+1176C>T) c.1380C>T (p.Leu460=) n.2656C>T |