| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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_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.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.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_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_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.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= |