Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 | |
17 | g.39724837T>A | CA399303398 | ERBB2 | c.2419T>A (p.Leu807Ile) c.2329T>A (p.Leu777Ile) c.1591T>A (p.Leu531Ile) c.2374T>A (p.Leu792Ile) c.*2209T>A (n.*2209T>A) c.525T>A n.3553T>A n.2743T>A c.2557T>A (p.Leu853Ile) c.2512T>A (p.Leu838Ile) c.2467T>A (p.Leu823Ile) c.2536T>A (p.Leu846Ile) c.2521T>A (p.Leu841Ile) c.2500T>A (p.Leu834Ile) c.2494T>A (p.Leu832Ile) c.2449T>A (p.Leu817Ile) c.2440T>A (p.Leu814Ile) c.2416T>A (p.Leu806Ile) c.2410T>A (p.Leu804Ile) c.2383T>A (p.Leu795Ile) c.2377T>A (p.Leu793Ile) c.2371T>A (p.Leu791Ile) c.2320T>A (p.Leu774Ile) c.2239T>A (p.Leu747Ile) c.2308-212T>A (n.2308-212T>A) c.2161T>A (p.Leu721Ile) c.2208+1177T>A (n.2208+1177T>A) c.1381T>A (p.Leu461Ile) n.2657T>A | dbSNP |
17 | g.39724837T>C | CA499670911 | ERBB2 | c.2419T>C (p.Leu807=) c.2329T>C (p.Leu777=) c.1591T>C (p.Leu531=) c.2374T>C (p.Leu792=) c.*2209T>C (n.*2209T>C) c.525T>C n.3553T>C n.2743T>C c.2557T>C (p.Leu853=) c.2512T>C (p.Leu838=) c.2467T>C (p.Leu823=) c.2536T>C (p.Leu846=) c.2521T>C (p.Leu841=) c.2500T>C (p.Leu834=) c.2494T>C (p.Leu832=) c.2449T>C (p.Leu817=) c.2440T>C (p.Leu814=) c.2416T>C (p.Leu806=) c.2410T>C (p.Leu804=) c.2383T>C (p.Leu795=) c.2377T>C (p.Leu793=) c.2371T>C (p.Leu791=) c.2320T>C (p.Leu774=) c.2239T>C (p.Leu747=) c.2308-212T>C (n.2308-212T>C) c.2161T>C (p.Leu721=) c.2208+1177T>C (n.2208+1177T>C) c.1381T>C (p.Leu461=) n.2657T>C | dbSNP |
17 | g.39724837T>G | CA399303401 | ERBB2 | c.2419T>G (p.Leu807Val) c.2329T>G (p.Leu777Val) c.1591T>G (p.Leu531Val) c.2374T>G (p.Leu792Val) c.*2209T>G (n.*2209T>G) c.525T>G n.3553T>G n.2743T>G c.2557T>G (p.Leu853Val) c.2512T>G (p.Leu838Val) c.2467T>G (p.Leu823Val) c.2536T>G (p.Leu846Val) c.2521T>G (p.Leu841Val) c.2500T>G (p.Leu834Val) c.2494T>G (p.Leu832Val) c.2449T>G (p.Leu817Val) c.2440T>G (p.Leu814Val) c.2416T>G (p.Leu806Val) c.2410T>G (p.Leu804Val) c.2383T>G (p.Leu795Val) c.2377T>G (p.Leu793Val) c.2371T>G (p.Leu791Val) c.2320T>G (p.Leu774Val) c.2239T>G (p.Leu747Val) c.2308-212T>G (n.2308-212T>G) c.2161T>G (p.Leu721Val) c.2208+1177T>G (n.2208+1177T>G) c.1381T>G (p.Leu461Val) n.2657T>G | gnomAD v4 |
17 | g.39724838del | CA2733615520 | ERBB2 | c.2420del (p.Leu807Ter) c.2330del (p.Leu777Ter) c.1592del (p.Leu531Ter) c.2375del (p.Leu792Ter) c.*2210del (n.*2210del) c.526del n.3554del n.2744del c.2558del (p.Leu853Ter) c.2513del (p.Leu838Ter) c.2468del (p.Leu823Ter) c.2537del (p.Leu846Ter) c.2522del (p.Leu841Ter) c.2501del (p.Leu834Ter) c.2495del (p.Leu832Ter) c.2450del (p.Leu817Ter) c.2441del (p.Leu814Ter) c.2417del (p.Leu806Ter) c.2411del (p.Leu804Ter) c.2384del (p.Leu795Ter) c.2378del (p.Leu793Ter) c.2372del (p.Leu791Ter) c.2321del (p.Leu774Ter) c.2240del (p.Leu747Ter) c.2308-211del (n.2308-211del) c.2162del (p.Leu721Ter) c.2208+1178del (n.2208+1178del) c.1382del (p.Leu461Ter) n.2658del | dbSNP |
17 | g.39724838T>A | CA399303404 | ERBB2 | c.2420T>A (p.Leu807Ter) c.2330T>A (p.Leu777Ter) c.1592T>A (p.Leu531Ter) c.2375T>A (p.Leu792Ter) c.*2210T>A (n.*2210T>A) c.526T>A n.3554T>A n.2744T>A c.2558T>A (p.Leu853Ter) c.2513T>A (p.Leu838Ter) c.2468T>A (p.Leu823Ter) c.2537T>A (p.Leu846Ter) c.2522T>A (p.Leu841Ter) c.2501T>A (p.Leu834Ter) c.2495T>A (p.Leu832Ter) c.2450T>A (p.Leu817Ter) c.2441T>A (p.Leu814Ter) c.2417T>A (p.Leu806Ter) c.2411T>A (p.Leu804Ter) c.2384T>A (p.Leu795Ter) c.2378T>A (p.Leu793Ter) c.2372T>A (p.Leu791Ter) c.2321T>A (p.Leu774Ter) c.2240T>A (p.Leu747Ter) c.2308-211T>A (n.2308-211T>A) c.2162T>A (p.Leu721Ter) c.2208+1178T>A (n.2208+1178T>A) c.1382T>A (p.Leu461Ter) n.2658T>A | dbSNP |
17 | g.39724838T>C | CA399303408 | ERBB2 | c.2420T>C (p.Leu807Ser) c.2330T>C (p.Leu777Ser) c.1592T>C (p.Leu531Ser) c.2375T>C (p.Leu792Ser) c.*2210T>C (n.*2210T>C) c.526T>C n.3554T>C n.2744T>C c.2558T>C (p.Leu853Ser) c.2513T>C (p.Leu838Ser) c.2468T>C (p.Leu823Ser) c.2537T>C (p.Leu846Ser) c.2522T>C (p.Leu841Ser) c.2501T>C (p.Leu834Ser) c.2495T>C (p.Leu832Ser) c.2450T>C (p.Leu817Ser) c.2441T>C (p.Leu814Ser) c.2417T>C (p.Leu806Ser) c.2411T>C (p.Leu804Ser) c.2384T>C (p.Leu795Ser) c.2378T>C (p.Leu793Ser) c.2372T>C (p.Leu791Ser) c.2321T>C (p.Leu774Ser) c.2240T>C (p.Leu747Ser) c.2308-211T>C (n.2308-211T>C) c.2162T>C (p.Leu721Ser) c.2208+1178T>C (n.2208+1178T>C) c.1382T>C (p.Leu461Ser) n.2658T>C | dbSNP |
17 | g.39724838T>G | CA399303412 | ERBB2 | c.2420T>G (p.Leu807Ter) c.2330T>G (p.Leu777Ter) c.1592T>G (p.Leu531Ter) c.2375T>G (p.Leu792Ter) c.*2210T>G (n.*2210T>G) c.526T>G n.3554T>G n.2744T>G c.2558T>G (p.Leu853Ter) c.2513T>G (p.Leu838Ter) c.2468T>G (p.Leu823Ter) c.2537T>G (p.Leu846Ter) c.2522T>G (p.Leu841Ter) c.2501T>G (p.Leu834Ter) c.2495T>G (p.Leu832Ter) c.2450T>G (p.Leu817Ter) c.2441T>G (p.Leu814Ter) c.2417T>G (p.Leu806Ter) c.2411T>G (p.Leu804Ter) c.2384T>G (p.Leu795Ter) c.2378T>G (p.Leu793Ter) c.2372T>G (p.Leu791Ter) c.2321T>G (p.Leu774Ter) c.2240T>G (p.Leu747Ter) c.2308-211T>G (n.2308-211T>G) c.2162T>G (p.Leu721Ter) c.2208+1178T>G (n.2208+1178T>G) c.1382T>G (p.Leu461Ter) n.2658T>G | |
17 | g.39724839A>C | CA399303414 | ERBB2 | c.2421A>C (p.Leu807Phe) c.2331A>C (p.Leu777Phe) c.1593A>C (p.Leu531Phe) c.2376A>C (p.Leu792Phe) c.*2211A>C (n.*2211A>C) c.527A>C n.3555A>C n.2745A>C c.2559A>C (p.Leu853Phe) c.2514A>C (p.Leu838Phe) c.2469A>C (p.Leu823Phe) c.2538A>C (p.Leu846Phe) c.2523A>C (p.Leu841Phe) c.2502A>C (p.Leu834Phe) c.2496A>C (p.Leu832Phe) c.2451A>C (p.Leu817Phe) c.2442A>C (p.Leu814Phe) c.2418A>C (p.Leu806Phe) c.2412A>C (p.Leu804Phe) c.2385A>C (p.Leu795Phe) c.2379A>C (p.Leu793Phe) c.2373A>C (p.Leu791Phe) c.2322A>C (p.Leu774Phe) c.2241A>C (p.Leu747Phe) c.2308-210A>C (n.2308-210A>C) c.2163A>C (p.Leu721Phe) c.2208+1179A>C (n.2208+1179A>C) c.1383A>C (p.Leu461Phe) n.2659A>C | |
17 | g.39724839A>G | CA499670912 | ERBB2 | c.2421A>G (p.Leu807=) c.2331A>G (p.Leu777=) c.1593A>G (p.Leu531=) c.2376A>G (p.Leu792=) c.*2211A>G (n.*2211A>G) c.527A>G n.3555A>G n.2745A>G c.2559A>G (p.Leu853=) c.2514A>G (p.Leu838=) c.2469A>G (p.Leu823=) c.2538A>G (p.Leu846=) c.2523A>G (p.Leu841=) c.2502A>G (p.Leu834=) c.2496A>G (p.Leu832=) c.2451A>G (p.Leu817=) c.2442A>G (p.Leu814=) c.2418A>G (p.Leu806=) c.2412A>G (p.Leu804=) c.2385A>G (p.Leu795=) c.2379A>G (p.Leu793=) c.2373A>G (p.Leu791=) c.2322A>G (p.Leu774=) c.2241A>G (p.Leu747=) c.2308-210A>G (n.2308-210A>G) c.2163A>G (p.Leu721=) c.2208+1179A>G (n.2208+1179A>G) c.1383A>G (p.Leu461=) n.2659A>G | |
17 | g.39724839A>T | CA399303416 | ERBB2 | c.2421A>T (p.Leu807Phe) c.2331A>T (p.Leu777Phe) c.1593A>T (p.Leu531Phe) c.2376A>T (p.Leu792Phe) c.*2211A>T (n.*2211A>T) c.527A>T n.3555A>T n.2745A>T c.2559A>T (p.Leu853Phe) c.2514A>T (p.Leu838Phe) c.2469A>T (p.Leu823Phe) c.2538A>T (p.Leu846Phe) c.2523A>T (p.Leu841Phe) c.2502A>T (p.Leu834Phe) c.2496A>T (p.Leu832Phe) c.2451A>T (p.Leu817Phe) c.2442A>T (p.Leu814Phe) c.2418A>T (p.Leu806Phe) c.2412A>T (p.Leu804Phe) c.2385A>T (p.Leu795Phe) c.2379A>T (p.Leu793Phe) c.2373A>T (p.Leu791Phe) c.2322A>T (p.Leu774Phe) c.2241A>T (p.Leu747Phe) c.2308-210A>T (n.2308-210A>T) c.2163A>T (p.Leu721Phe) c.2208+1179A>T (n.2208+1179A>T) c.1383A>T (p.Leu461Phe) n.2659A>T | dbSNP COSMIC COSMIC |
17 | g.39724840G>A | CA399303420 | ERBB2 | c.2422G>A (p.Asp808Asn) c.2332G>A (p.Asp778Asn) c.1594G>A (p.Asp532Asn) c.2377G>A (p.Asp793Asn) c.*2212G>A (n.*2212G>A) c.528G>A n.3556G>A n.2746G>A c.2560G>A (p.Asp854Asn) c.2515G>A (p.Asp839Asn) c.2470G>A (p.Asp824Asn) c.2539G>A (p.Asp847Asn) c.2524G>A (p.Asp842Asn) c.2503G>A (p.Asp835Asn) c.2497G>A (p.Asp833Asn) c.2452G>A (p.Asp818Asn) c.2443G>A (p.Asp815Asn) c.2419G>A (p.Asp807Asn) c.2413G>A (p.Asp805Asn) c.2386G>A (p.Asp796Asn) c.2380G>A (p.Asp794Asn) c.2374G>A (p.Asp792Asn) c.2323G>A (p.Asp775Asn) c.2242G>A (p.Asp748Asn) c.2308-209G>A (n.2308-209G>A) c.2164G>A (p.Asp722Asn) c.2208+1180G>A (n.2208+1180G>A) c.1384G>A (p.Asp462Asn) n.2660G>A | dbSNP |
17 | g.39724840G>C | CA290440569 | ERBB2 | c.2422G>C (p.Asp808His) c.2332G>C (p.Asp778His) c.1594G>C (p.Asp532His) c.2377G>C (p.Asp793His) c.*2212G>C (n.*2212G>C) c.528G>C n.3556G>C n.2746G>C c.2560G>C (p.Asp854His) c.2515G>C (p.Asp839His) c.2470G>C (p.Asp824His) c.2539G>C (p.Asp847His) c.2524G>C (p.Asp842His) c.2503G>C (p.Asp835His) c.2497G>C (p.Asp833His) c.2452G>C (p.Asp818His) c.2443G>C (p.Asp815His) c.2419G>C (p.Asp807His) c.2413G>C (p.Asp805His) c.2386G>C (p.Asp796His) c.2380G>C (p.Asp794His) c.2374G>C (p.Asp792His) c.2323G>C (p.Asp775His) c.2242G>C (p.Asp748His) c.2308-209G>C (n.2308-209G>C) c.2164G>C (p.Asp722His) c.2208+1180G>C (n.2208+1180G>C) c.1384G>C (p.Asp462His) n.2660G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724840G= | CA2259228024 | ERBB2 | c.2422G= (p.Asp808=) c.2332G= (p.Asp778=) c.1594G= (p.Asp532=) c.2377G= (p.Asp793=) c.*2212G= (n.*2212G=) c.528G= n.3556G= n.2746G= c.2560G= (p.Asp854=) c.2515G= (p.Asp839=) c.2470G= (p.Asp824=) c.2539G= (p.Asp847=) c.2524G= (p.Asp842=) c.2503G= (p.Asp835=) c.2497G= (p.Asp833=) c.2452G= (p.Asp818=) c.2443G= (p.Asp815=) c.2419G= (p.Asp807=) c.2413G= (p.Asp805=) c.2386G= (p.Asp796=) c.2380G= (p.Asp794=) c.2374G= (p.Asp792=) c.2323G= (p.Asp775=) c.2242G= (p.Asp748=) c.2308-209G= (n.2308-209G=) c.2164G= (p.Asp722=) c.2208+1180G= (n.2208+1180G=) c.1384G= (p.Asp462=) n.2660G= | |
17 | g.39724840G>T | CA399303423 | ERBB2 | c.2422G>T (p.Asp808Tyr) c.2332G>T (p.Asp778Tyr) c.1594G>T (p.Asp532Tyr) c.2377G>T (p.Asp793Tyr) c.*2212G>T (n.*2212G>T) c.528G>T n.3556G>T n.2746G>T c.2560G>T (p.Asp854Tyr) c.2515G>T (p.Asp839Tyr) c.2470G>T (p.Asp824Tyr) c.2539G>T (p.Asp847Tyr) c.2524G>T (p.Asp842Tyr) c.2503G>T (p.Asp835Tyr) c.2497G>T (p.Asp833Tyr) c.2452G>T (p.Asp818Tyr) c.2443G>T (p.Asp815Tyr) c.2419G>T (p.Asp807Tyr) c.2413G>T (p.Asp805Tyr) c.2386G>T (p.Asp796Tyr) c.2380G>T (p.Asp794Tyr) c.2374G>T (p.Asp792Tyr) c.2323G>T (p.Asp775Tyr) c.2242G>T (p.Asp748Tyr) c.2308-209G>T (n.2308-209G>T) c.2164G>T (p.Asp722Tyr) c.2208+1180G>T (n.2208+1180G>T) c.1384G>T (p.Asp462Tyr) n.2660G>T | dbSNP |
17 | g.39724841A>C | CA399303425 | ERBB2 | c.2423A>C (p.Asp808Ala) c.2333A>C (p.Asp778Ala) c.1595A>C (p.Asp532Ala) c.2378A>C (p.Asp793Ala) c.*2213A>C (n.*2213A>C) c.529A>C n.3557A>C n.2747A>C c.2561A>C (p.Asp854Ala) c.2516A>C (p.Asp839Ala) c.2471A>C (p.Asp824Ala) c.2540A>C (p.Asp847Ala) c.2525A>C (p.Asp842Ala) c.2504A>C (p.Asp835Ala) c.2498A>C (p.Asp833Ala) c.2453A>C (p.Asp818Ala) c.2444A>C (p.Asp815Ala) c.2420A>C (p.Asp807Ala) c.2414A>C (p.Asp805Ala) c.2387A>C (p.Asp796Ala) c.2381A>C (p.Asp794Ala) c.2375A>C (p.Asp792Ala) c.2324A>C (p.Asp775Ala) c.2243A>C (p.Asp748Ala) c.2308-208A>C (n.2308-208A>C) c.2165A>C (p.Asp722Ala) c.2208+1181A>C (n.2208+1181A>C) c.1385A>C (p.Asp462Ala) n.2661A>C | dbSNP |
17 | g.39724841A>G | CA399303430 | ERBB2 | c.2423A>G (p.Asp808Gly) c.2333A>G (p.Asp778Gly) c.1595A>G (p.Asp532Gly) c.2378A>G (p.Asp793Gly) c.*2213A>G (n.*2213A>G) c.529A>G n.3557A>G n.2747A>G c.2561A>G (p.Asp854Gly) c.2516A>G (p.Asp839Gly) c.2471A>G (p.Asp824Gly) c.2540A>G (p.Asp847Gly) c.2525A>G (p.Asp842Gly) c.2504A>G (p.Asp835Gly) c.2498A>G (p.Asp833Gly) c.2453A>G (p.Asp818Gly) c.2444A>G (p.Asp815Gly) c.2420A>G (p.Asp807Gly) c.2414A>G (p.Asp805Gly) c.2387A>G (p.Asp796Gly) c.2381A>G (p.Asp794Gly) c.2375A>G (p.Asp792Gly) c.2324A>G (p.Asp775Gly) c.2243A>G (p.Asp748Gly) c.2308-208A>G (n.2308-208A>G) c.2165A>G (p.Asp722Gly) c.2208+1181A>G (n.2208+1181A>G) c.1385A>G (p.Asp462Gly) n.2661A>G | |
17 | g.39724841A>T | CA399303428 | ERBB2 | c.2423A>T (p.Asp808Val) c.2333A>T (p.Asp778Val) c.1595A>T (p.Asp532Val) c.2378A>T (p.Asp793Val) c.*2213A>T (n.*2213A>T) c.529A>T n.3557A>T n.2747A>T c.2561A>T (p.Asp854Val) c.2516A>T (p.Asp839Val) c.2471A>T (p.Asp824Val) c.2540A>T (p.Asp847Val) c.2525A>T (p.Asp842Val) c.2504A>T (p.Asp835Val) c.2498A>T (p.Asp833Val) c.2453A>T (p.Asp818Val) c.2444A>T (p.Asp815Val) c.2420A>T (p.Asp807Val) c.2414A>T (p.Asp805Val) c.2387A>T (p.Asp796Val) c.2381A>T (p.Asp794Val) c.2375A>T (p.Asp792Val) c.2324A>T (p.Asp775Val) c.2243A>T (p.Asp748Val) c.2308-208A>T (n.2308-208A>T) c.2165A>T (p.Asp722Val) c.2208+1181A>T (n.2208+1181A>T) c.1385A>T (p.Asp462Val) n.2661A>T | |
17 | g.39724842C>A | CA8534295 | ERBB2 | c.2424C>A (p.Asp808Glu) c.2334C>A (p.Asp778Glu) c.1596C>A (p.Asp532Glu) c.2379C>A (p.Asp793Glu) c.*2214C>A (n.*2214C>A) c.530C>A n.3558C>A n.2748C>A c.2562C>A (p.Asp854Glu) c.2517C>A (p.Asp839Glu) c.2472C>A (p.Asp824Glu) c.2541C>A (p.Asp847Glu) c.2526C>A (p.Asp842Glu) c.2505C>A (p.Asp835Glu) c.2499C>A (p.Asp833Glu) c.2454C>A (p.Asp818Glu) c.2445C>A (p.Asp815Glu) c.2421C>A (p.Asp807Glu) c.2415C>A (p.Asp805Glu) c.2388C>A (p.Asp796Glu) c.2382C>A (p.Asp794Glu) c.2376C>A (p.Asp792Glu) c.2325C>A (p.Asp775Glu) c.2244C>A (p.Asp748Glu) c.2308-207C>A (n.2308-207C>A) c.2166C>A (p.Asp722Glu) c.2208+1182C>A (n.2208+1182C>A) c.1386C>A (p.Asp462Glu) n.2662C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724842C= | CA2259228025 | ERBB2 | c.2424C= (p.Asp808=) c.2334C= (p.Asp778=) c.1596C= (p.Asp532=) c.2379C= (p.Asp793=) c.*2214C= (n.*2214C=) c.530C= n.3558C= n.2748C= c.2562C= (p.Asp854=) c.2517C= (p.Asp839=) c.2472C= (p.Asp824=) c.2541C= (p.Asp847=) c.2526C= (p.Asp842=) c.2505C= (p.Asp835=) c.2499C= (p.Asp833=) c.2454C= (p.Asp818=) c.2445C= (p.Asp815=) c.2421C= (p.Asp807=) c.2415C= (p.Asp805=) c.2388C= (p.Asp796=) c.2382C= (p.Asp794=) c.2376C= (p.Asp792=) c.2325C= (p.Asp775=) c.2244C= (p.Asp748=) c.2308-207C= (n.2308-207C=) c.2166C= (p.Asp722=) c.2208+1182C= (n.2208+1182C=) c.1386C= (p.Asp462=) n.2662C= | |
17 | g.39724842C>G | CA399303431 | ERBB2 | c.2424C>G (p.Asp808Glu) c.2334C>G (p.Asp778Glu) c.1596C>G (p.Asp532Glu) c.2379C>G (p.Asp793Glu) c.*2214C>G (n.*2214C>G) c.530C>G n.3558C>G n.2748C>G c.2562C>G (p.Asp854Glu) c.2517C>G (p.Asp839Glu) c.2472C>G (p.Asp824Glu) c.2541C>G (p.Asp847Glu) c.2526C>G (p.Asp842Glu) c.2505C>G (p.Asp835Glu) c.2499C>G (p.Asp833Glu) c.2454C>G (p.Asp818Glu) c.2445C>G (p.Asp815Glu) c.2421C>G (p.Asp807Glu) c.2415C>G (p.Asp805Glu) c.2388C>G (p.Asp796Glu) c.2382C>G (p.Asp794Glu) c.2376C>G (p.Asp792Glu) c.2325C>G (p.Asp775Glu) c.2244C>G (p.Asp748Glu) c.2308-207C>G (n.2308-207C>G) c.2166C>G (p.Asp722Glu) c.2208+1182C>G (n.2208+1182C>G) c.1386C>G (p.Asp462Glu) n.2662C>G | dbSNP |
17 | g.39724842C>T | CA499670913 | ERBB2 | c.2424C>T (p.Asp808=) c.2334C>T (p.Asp778=) c.1596C>T (p.Asp532=) c.2379C>T (p.Asp793=) c.*2214C>T (n.*2214C>T) c.530C>T n.3558C>T n.2748C>T c.2562C>T (p.Asp854=) c.2517C>T (p.Asp839=) c.2472C>T (p.Asp824=) c.2541C>T (p.Asp847=) c.2526C>T (p.Asp842=) c.2505C>T (p.Asp835=) c.2499C>T (p.Asp833=) c.2454C>T (p.Asp818=) c.2445C>T (p.Asp815=) c.2421C>T (p.Asp807=) c.2415C>T (p.Asp805=) c.2388C>T (p.Asp796=) c.2382C>T (p.Asp794=) c.2376C>T (p.Asp792=) c.2325C>T (p.Asp775=) c.2244C>T (p.Asp748=) c.2308-207C>T (n.2308-207C>T) c.2166C>T (p.Asp722=) c.2208+1182C>T (n.2208+1182C>T) c.1386C>T (p.Asp462=) n.2662C>T | dbSNP |
17 | g.39724843C>A | CA399303432 | ERBB2 | c.2425C>A (p.His809Asn) c.2335C>A (p.His779Asn) c.1597C>A (p.His533Asn) c.2380C>A (p.His794Asn) c.*2215C>A (n.*2215C>A) c.531C>A n.3559C>A n.2749C>A c.2563C>A (p.His855Asn) c.2518C>A (p.His840Asn) c.2473C>A (p.His825Asn) c.2542C>A (p.His848Asn) c.2527C>A (p.His843Asn) c.2506C>A (p.His836Asn) c.2500C>A (p.His834Asn) c.2455C>A (p.His819Asn) c.2446C>A (p.His816Asn) c.2422C>A (p.His808Asn) c.2416C>A (p.His806Asn) c.2389C>A (p.His797Asn) c.2383C>A (p.His795Asn) c.2377C>A (p.His793Asn) c.2326C>A (p.His776Asn) c.2245C>A (p.His749Asn) c.2308-206C>A (n.2308-206C>A) c.2167C>A (p.His723Asn) c.2208+1183C>A (n.2208+1183C>A) c.1387C>A (p.His463Asn) n.2663C>A | dbSNP |
17 | g.39724843C>G | CA399303433 | ERBB2 | c.2425C>G (p.His809Asp) c.2335C>G (p.His779Asp) c.1597C>G (p.His533Asp) c.2380C>G (p.His794Asp) c.*2215C>G (n.*2215C>G) c.531C>G n.3559C>G n.2749C>G c.2563C>G (p.His855Asp) c.2518C>G (p.His840Asp) c.2473C>G (p.His825Asp) c.2542C>G (p.His848Asp) c.2527C>G (p.His843Asp) c.2506C>G (p.His836Asp) c.2500C>G (p.His834Asp) c.2455C>G (p.His819Asp) c.2446C>G (p.His816Asp) c.2422C>G (p.His808Asp) c.2416C>G (p.His806Asp) c.2389C>G (p.His797Asp) c.2383C>G (p.His795Asp) c.2377C>G (p.His793Asp) c.2326C>G (p.His776Asp) c.2245C>G (p.His749Asp) c.2308-206C>G (n.2308-206C>G) c.2167C>G (p.His723Asp) c.2208+1183C>G (n.2208+1183C>G) c.1387C>G (p.His463Asp) n.2663C>G | dbSNP |
17 | g.39724843C>T | CA399303434 | ERBB2 | c.2425C>T (p.His809Tyr) c.2335C>T (p.His779Tyr) c.1597C>T (p.His533Tyr) c.2380C>T (p.His794Tyr) c.*2215C>T (n.*2215C>T) c.531C>T n.3559C>T n.2749C>T c.2563C>T (p.His855Tyr) c.2518C>T (p.His840Tyr) c.2473C>T (p.His825Tyr) c.2542C>T (p.His848Tyr) c.2527C>T (p.His843Tyr) c.2506C>T (p.His836Tyr) c.2500C>T (p.His834Tyr) c.2455C>T (p.His819Tyr) c.2446C>T (p.His816Tyr) c.2422C>T (p.His808Tyr) c.2416C>T (p.His806Tyr) c.2389C>T (p.His797Tyr) c.2383C>T (p.His795Tyr) c.2377C>T (p.His793Tyr) c.2326C>T (p.His776Tyr) c.2245C>T (p.His749Tyr) c.2308-206C>T (n.2308-206C>T) c.2167C>T (p.His723Tyr) c.2208+1183C>T (n.2208+1183C>T) c.1387C>T (p.His463Tyr) n.2663C>T | dbSNP |
17 | g.39724844A>C | CA399303439 | ERBB2 | c.2426A>C (p.His809Pro) c.2336A>C (p.His779Pro) c.1598A>C (p.His533Pro) c.2381A>C (p.His794Pro) c.*2216A>C (n.*2216A>C) c.532A>C n.3560A>C n.2750A>C c.2564A>C (p.His855Pro) c.2519A>C (p.His840Pro) c.2474A>C (p.His825Pro) c.2543A>C (p.His848Pro) c.2528A>C (p.His843Pro) c.2507A>C (p.His836Pro) c.2501A>C (p.His834Pro) c.2456A>C (p.His819Pro) c.2447A>C (p.His816Pro) c.2423A>C (p.His808Pro) c.2417A>C (p.His806Pro) c.2390A>C (p.His797Pro) c.2384A>C (p.His795Pro) c.2378A>C (p.His793Pro) c.2327A>C (p.His776Pro) c.2246A>C (p.His749Pro) c.2308-205A>C (n.2308-205A>C) c.2168A>C (p.His723Pro) c.2208+1184A>C (n.2208+1184A>C) c.1388A>C (p.His463Pro) n.2664A>C | dbSNP |
17 | g.39724844A>G | CA399303443 | ERBB2 | c.2426A>G (p.His809Arg) c.2336A>G (p.His779Arg) c.1598A>G (p.His533Arg) c.2381A>G (p.His794Arg) c.*2216A>G (n.*2216A>G) c.532A>G n.3560A>G n.2750A>G c.2564A>G (p.His855Arg) c.2519A>G (p.His840Arg) c.2474A>G (p.His825Arg) c.2543A>G (p.His848Arg) c.2528A>G (p.His843Arg) c.2507A>G (p.His836Arg) c.2501A>G (p.His834Arg) c.2456A>G (p.His819Arg) c.2447A>G (p.His816Arg) c.2423A>G (p.His808Arg) c.2417A>G (p.His806Arg) c.2390A>G (p.His797Arg) c.2384A>G (p.His795Arg) c.2378A>G (p.His793Arg) c.2327A>G (p.His776Arg) c.2246A>G (p.His749Arg) c.2308-205A>G (n.2308-205A>G) c.2168A>G (p.His723Arg) c.2208+1184A>G (n.2208+1184A>G) c.1388A>G (p.His463Arg) n.2664A>G | gnomAD v4 |
17 | g.39724844A>T | CA399303445 | ERBB2 | c.2426A>T (p.His809Leu) c.2336A>T (p.His779Leu) c.1598A>T (p.His533Leu) c.2381A>T (p.His794Leu) c.*2216A>T (n.*2216A>T) c.532A>T n.3560A>T n.2750A>T c.2564A>T (p.His855Leu) c.2519A>T (p.His840Leu) c.2474A>T (p.His825Leu) c.2543A>T (p.His848Leu) c.2528A>T (p.His843Leu) c.2507A>T (p.His836Leu) c.2501A>T (p.His834Leu) c.2456A>T (p.His819Leu) c.2447A>T (p.His816Leu) c.2423A>T (p.His808Leu) c.2417A>T (p.His806Leu) c.2390A>T (p.His797Leu) c.2384A>T (p.His795Leu) c.2378A>T (p.His793Leu) c.2327A>T (p.His776Leu) c.2246A>T (p.His749Leu) c.2308-205A>T (n.2308-205A>T) c.2168A>T (p.His723Leu) c.2208+1184A>T (n.2208+1184A>T) c.1388A>T (p.His463Leu) n.2664A>T | dbSNP |
17 | g.39724845T>A | CA399303448 | ERBB2 | c.2427T>A (p.His809Gln) c.2337T>A (p.His779Gln) c.1599T>A (p.His533Gln) c.2382T>A (p.His794Gln) c.*2217T>A (n.*2217T>A) c.533T>A n.3561T>A n.2751T>A c.2565T>A (p.His855Gln) c.2520T>A (p.His840Gln) c.2475T>A (p.His825Gln) c.2544T>A (p.His848Gln) c.2529T>A (p.His843Gln) c.2508T>A (p.His836Gln) c.2502T>A (p.His834Gln) c.2457T>A (p.His819Gln) c.2448T>A (p.His816Gln) c.2424T>A (p.His808Gln) c.2418T>A (p.His806Gln) c.2391T>A (p.His797Gln) c.2385T>A (p.His795Gln) c.2379T>A (p.His793Gln) c.2328T>A (p.His776Gln) c.2247T>A (p.His749Gln) c.2308-204T>A (n.2308-204T>A) c.2169T>A (p.His723Gln) c.2208+1185T>A (n.2208+1185T>A) c.1389T>A (p.His463Gln) n.2665T>A | dbSNP |
17 | g.39724845T>C | CA499670914 | ERBB2 | c.2427T>C (p.His809=) c.2337T>C (p.His779=) c.1599T>C (p.His533=) c.2382T>C (p.His794=) c.*2217T>C (n.*2217T>C) c.533T>C n.3561T>C n.2751T>C c.2565T>C (p.His855=) c.2520T>C (p.His840=) c.2475T>C (p.His825=) c.2544T>C (p.His848=) c.2529T>C (p.His843=) c.2508T>C (p.His836=) c.2502T>C (p.His834=) c.2457T>C (p.His819=) c.2448T>C (p.His816=) c.2424T>C (p.His808=) c.2418T>C (p.His806=) c.2391T>C (p.His797=) c.2385T>C (p.His795=) c.2379T>C (p.His793=) c.2328T>C (p.His776=) c.2247T>C (p.His749=) c.2308-204T>C (n.2308-204T>C) c.2169T>C (p.His723=) c.2208+1185T>C (n.2208+1185T>C) c.1389T>C (p.His463=) n.2665T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724845T>G | CA399303451 | ERBB2 | c.2427T>G (p.His809Gln) c.2337T>G (p.His779Gln) c.1599T>G (p.His533Gln) c.2382T>G (p.His794Gln) c.*2217T>G (n.*2217T>G) c.533T>G n.3561T>G n.2751T>G c.2565T>G (p.His855Gln) c.2520T>G (p.His840Gln) c.2475T>G (p.His825Gln) c.2544T>G (p.His848Gln) c.2529T>G (p.His843Gln) c.2508T>G (p.His836Gln) c.2502T>G (p.His834Gln) c.2457T>G (p.His819Gln) c.2448T>G (p.His816Gln) c.2424T>G (p.His808Gln) c.2418T>G (p.His806Gln) c.2391T>G (p.His797Gln) c.2385T>G (p.His795Gln) c.2379T>G (p.His793Gln) c.2328T>G (p.His776Gln) c.2247T>G (p.His749Gln) c.2308-204T>G (n.2308-204T>G) c.2169T>G (p.His723Gln) c.2208+1185T>G (n.2208+1185T>G) c.1389T>G (p.His463Gln) n.2665T>G | dbSNP |
17 | g.39724845T= | CA2259228026 | ERBB2 | c.2427T= (p.His809=) c.2337T= (p.His779=) c.1599T= (p.His533=) c.2382T= (p.His794=) c.*2217T= (n.*2217T=) c.533T= n.3561T= n.2751T= c.2565T= (p.His855=) c.2520T= (p.His840=) c.2475T= (p.His825=) c.2544T= (p.His848=) c.2529T= (p.His843=) c.2508T= (p.His836=) c.2502T= (p.His834=) c.2457T= (p.His819=) c.2448T= (p.His816=) c.2424T= (p.His808=) c.2418T= (p.His806=) c.2391T= (p.His797=) c.2385T= (p.His795=) c.2379T= (p.His793=) c.2328T= (p.His776=) c.2247T= (p.His749=) c.2308-204T= (n.2308-204T=) c.2169T= (p.His723=) c.2208+1185T= (n.2208+1185T=) c.1389T= (p.His463=) n.2665T= | |
17 | g.39724846G>A | CA399303456 | ERBB2 | c.2428G>A (p.Val810Ile) c.2338G>A (p.Val780Ile) c.1600G>A (p.Val534Ile) c.2383G>A (p.Val795Ile) c.*2218G>A (n.*2218G>A) c.534G>A n.3562G>A n.2752G>A c.2566G>A (p.Val856Ile) c.2521G>A (p.Val841Ile) c.2476G>A (p.Val826Ile) c.2545G>A (p.Val849Ile) c.2530G>A (p.Val844Ile) c.2509G>A (p.Val837Ile) c.2503G>A (p.Val835Ile) c.2458G>A (p.Val820Ile) c.2449G>A (p.Val817Ile) c.2425G>A (p.Val809Ile) c.2419G>A (p.Val807Ile) c.2392G>A (p.Val798Ile) c.2386G>A (p.Val796Ile) c.2380G>A (p.Val794Ile) c.2329G>A (p.Val777Ile) c.2248G>A (p.Val750Ile) c.2308-203G>A (n.2308-203G>A) c.2170G>A (p.Val724Ile) c.2208+1186G>A (n.2208+1186G>A) c.1390G>A (p.Val464Ile) n.2666G>A | dbSNP |
17 | g.39724846G>C | CA399303455 | ERBB2 | c.2428G>C (p.Val810Leu) c.2338G>C (p.Val780Leu) c.1600G>C (p.Val534Leu) c.2383G>C (p.Val795Leu) c.*2218G>C (n.*2218G>C) c.534G>C n.3562G>C n.2752G>C c.2566G>C (p.Val856Leu) c.2521G>C (p.Val841Leu) c.2476G>C (p.Val826Leu) c.2545G>C (p.Val849Leu) c.2530G>C (p.Val844Leu) c.2509G>C (p.Val837Leu) c.2503G>C (p.Val835Leu) c.2458G>C (p.Val820Leu) c.2449G>C (p.Val817Leu) c.2425G>C (p.Val809Leu) c.2419G>C (p.Val807Leu) c.2392G>C (p.Val798Leu) c.2386G>C (p.Val796Leu) c.2380G>C (p.Val794Leu) c.2329G>C (p.Val777Leu) c.2248G>C (p.Val750Leu) c.2308-203G>C (n.2308-203G>C) c.2170G>C (p.Val724Leu) c.2208+1186G>C (n.2208+1186G>C) c.1390G>C (p.Val464Leu) n.2666G>C | dbSNP |
17 | g.39724846G>T | CA399303454 | ERBB2 | c.2428G>T (p.Val810Phe) c.2338G>T (p.Val780Phe) c.1600G>T (p.Val534Phe) c.2383G>T (p.Val795Phe) c.*2218G>T (n.*2218G>T) c.534G>T n.3562G>T n.2752G>T c.2566G>T (p.Val856Phe) c.2521G>T (p.Val841Phe) c.2476G>T (p.Val826Phe) c.2545G>T (p.Val849Phe) c.2530G>T (p.Val844Phe) c.2509G>T (p.Val837Phe) c.2503G>T (p.Val835Phe) c.2458G>T (p.Val820Phe) c.2449G>T (p.Val817Phe) c.2425G>T (p.Val809Phe) c.2419G>T (p.Val807Phe) c.2392G>T (p.Val798Phe) c.2386G>T (p.Val796Phe) c.2380G>T (p.Val794Phe) c.2329G>T (p.Val777Phe) c.2248G>T (p.Val750Phe) c.2308-203G>T (n.2308-203G>T) c.2170G>T (p.Val724Phe) c.2208+1186G>T (n.2208+1186G>T) c.1390G>T (p.Val464Phe) n.2666G>T | |
17 | g.39724847T>A | CA399303457 | ERBB2 | c.2429T>A (p.Val810Asp) c.2339T>A (p.Val780Asp) c.1601T>A (p.Val534Asp) c.2384T>A (p.Val795Asp) c.*2219T>A (n.*2219T>A) c.535T>A n.3563T>A n.2753T>A c.2567T>A (p.Val856Asp) c.2522T>A (p.Val841Asp) c.2477T>A (p.Val826Asp) c.2546T>A (p.Val849Asp) c.2531T>A (p.Val844Asp) c.2510T>A (p.Val837Asp) c.2504T>A (p.Val835Asp) c.2459T>A (p.Val820Asp) c.2450T>A (p.Val817Asp) c.2426T>A (p.Val809Asp) c.2420T>A (p.Val807Asp) c.2393T>A (p.Val798Asp) c.2387T>A (p.Val796Asp) c.2381T>A (p.Val794Asp) c.2330T>A (p.Val777Asp) c.2249T>A (p.Val750Asp) c.2308-202T>A (n.2308-202T>A) c.2171T>A (p.Val724Asp) c.2208+1187T>A (n.2208+1187T>A) c.1391T>A (p.Val464Asp) n.2667T>A | dbSNP |
17 | g.39724847T>C | CA399303459 | ERBB2 | c.2429T>C (p.Val810Ala) c.2339T>C (p.Val780Ala) c.1601T>C (p.Val534Ala) c.2384T>C (p.Val795Ala) c.*2219T>C (n.*2219T>C) c.535T>C n.3563T>C n.2753T>C c.2567T>C (p.Val856Ala) c.2522T>C (p.Val841Ala) c.2477T>C (p.Val826Ala) c.2546T>C (p.Val849Ala) c.2531T>C (p.Val844Ala) c.2510T>C (p.Val837Ala) c.2504T>C (p.Val835Ala) c.2459T>C (p.Val820Ala) c.2450T>C (p.Val817Ala) c.2426T>C (p.Val809Ala) c.2420T>C (p.Val807Ala) c.2393T>C (p.Val798Ala) c.2387T>C (p.Val796Ala) c.2381T>C (p.Val794Ala) c.2330T>C (p.Val777Ala) c.2249T>C (p.Val750Ala) c.2308-202T>C (n.2308-202T>C) c.2171T>C (p.Val724Ala) c.2208+1187T>C (n.2208+1187T>C) c.1391T>C (p.Val464Ala) n.2667T>C | dbSNP |
17 | g.39724847T>G | CA399303461 | ERBB2 | c.2429T>G (p.Val810Gly) c.2339T>G (p.Val780Gly) c.1601T>G (p.Val534Gly) c.2384T>G (p.Val795Gly) c.*2219T>G (n.*2219T>G) c.535T>G n.3563T>G n.2753T>G c.2567T>G (p.Val856Gly) c.2522T>G (p.Val841Gly) c.2477T>G (p.Val826Gly) c.2546T>G (p.Val849Gly) c.2531T>G (p.Val844Gly) c.2510T>G (p.Val837Gly) c.2504T>G (p.Val835Gly) c.2459T>G (p.Val820Gly) c.2450T>G (p.Val817Gly) c.2426T>G (p.Val809Gly) c.2420T>G (p.Val807Gly) c.2393T>G (p.Val798Gly) c.2387T>G (p.Val796Gly) c.2381T>G (p.Val794Gly) c.2330T>G (p.Val777Gly) c.2249T>G (p.Val750Gly) c.2308-202T>G (n.2308-202T>G) c.2171T>G (p.Val724Gly) c.2208+1187T>G (n.2208+1187T>G) c.1391T>G (p.Val464Gly) n.2667T>G | dbSNP |
17 | g.39724848C>A | CA499670915 | ERBB2 | c.2430C>A (p.Val810=) c.2340C>A (p.Val780=) c.1602C>A (p.Val534=) c.2385C>A (p.Val795=) c.*2220C>A (n.*2220C>A) c.536C>A n.3564C>A n.2754C>A c.2568C>A (p.Val856=) c.2523C>A (p.Val841=) c.2478C>A (p.Val826=) c.2547C>A (p.Val849=) c.2532C>A (p.Val844=) c.2511C>A (p.Val837=) c.2505C>A (p.Val835=) c.2460C>A (p.Val820=) c.2451C>A (p.Val817=) c.2427C>A (p.Val809=) c.2421C>A (p.Val807=) c.2394C>A (p.Val798=) c.2388C>A (p.Val796=) c.2382C>A (p.Val794=) c.2331C>A (p.Val777=) c.2250C>A (p.Val750=) c.2308-201C>A (n.2308-201C>A) c.2172C>A (p.Val724=) c.2208+1188C>A (n.2208+1188C>A) c.1392C>A (p.Val464=) n.2668C>A | dbSNP |
17 | g.39724848C>G | CA499670916 | ERBB2 | c.2430C>G (p.Val810=) c.2340C>G (p.Val780=) c.1602C>G (p.Val534=) c.2385C>G (p.Val795=) c.*2220C>G (n.*2220C>G) c.536C>G n.3564C>G n.2754C>G c.2568C>G (p.Val856=) c.2523C>G (p.Val841=) c.2478C>G (p.Val826=) c.2547C>G (p.Val849=) c.2532C>G (p.Val844=) c.2511C>G (p.Val837=) c.2505C>G (p.Val835=) c.2460C>G (p.Val820=) c.2451C>G (p.Val817=) c.2427C>G (p.Val809=) c.2421C>G (p.Val807=) c.2394C>G (p.Val798=) c.2388C>G (p.Val796=) c.2382C>G (p.Val794=) c.2331C>G (p.Val777=) c.2250C>G (p.Val750=) c.2308-201C>G (n.2308-201C>G) c.2172C>G (p.Val724=) c.2208+1188C>G (n.2208+1188C>G) c.1392C>G (p.Val464=) n.2668C>G | dbSNP |
17 | g.39724848C>T | CA499670917 | ERBB2 | c.2430C>T (p.Val810=) c.2340C>T (p.Val780=) c.1602C>T (p.Val534=) c.2385C>T (p.Val795=) c.*2220C>T (n.*2220C>T) c.536C>T n.3564C>T n.2754C>T c.2568C>T (p.Val856=) c.2523C>T (p.Val841=) c.2478C>T (p.Val826=) c.2547C>T (p.Val849=) c.2532C>T (p.Val844=) c.2511C>T (p.Val837=) c.2505C>T (p.Val835=) c.2460C>T (p.Val820=) c.2451C>T (p.Val817=) c.2427C>T (p.Val809=) c.2421C>T (p.Val807=) c.2394C>T (p.Val798=) c.2388C>T (p.Val796=) c.2382C>T (p.Val794=) c.2331C>T (p.Val777=) c.2250C>T (p.Val750=) c.2308-201C>T (n.2308-201C>T) c.2172C>T (p.Val724=) c.2208+1188C>T (n.2208+1188C>T) c.1392C>T (p.Val464=) n.2668C>T | dbSNP |
17 | g.39724849C>A | CA499670918 | ERBB2 | c.2431C>A (p.Arg811=) c.2341C>A (p.Arg781=) c.1603C>A (p.Arg535=) c.2386C>A (p.Arg796=) c.*2221C>A (n.*2221C>A) c.537C>A n.3565C>A n.2755C>A c.2569C>A (p.Arg857=) c.2524C>A (p.Arg842=) c.2479C>A (p.Arg827=) c.2548C>A (p.Arg850=) c.2533C>A (p.Arg845=) c.2512C>A (p.Arg838=) c.2506C>A (p.Arg836=) c.2461C>A (p.Arg821=) c.2452C>A (p.Arg818=) c.2428C>A (p.Arg810=) c.2422C>A (p.Arg808=) c.2395C>A (p.Arg799=) c.2389C>A (p.Arg797=) c.2383C>A (p.Arg795=) c.2332C>A (p.Arg778=) c.2251C>A (p.Arg751=) c.2308-200C>A (n.2308-200C>A) c.2173C>A (p.Arg725=) c.2208+1189C>A (n.2208+1189C>A) c.1393C>A (p.Arg465=) n.2669C>A | dbSNP |
17 | g.39724849C= | CA2259228027 | ERBB2 | c.2431C= (p.Arg811=) c.2341C= (p.Arg781=) c.1603C= (p.Arg535=) c.2386C= (p.Arg796=) c.*2221C= (n.*2221C=) c.537C= n.3565C= n.2755C= c.2569C= (p.Arg857=) c.2524C= (p.Arg842=) c.2479C= (p.Arg827=) c.2548C= (p.Arg850=) c.2533C= (p.Arg845=) c.2512C= (p.Arg838=) c.2506C= (p.Arg836=) c.2461C= (p.Arg821=) c.2452C= (p.Arg818=) c.2428C= (p.Arg810=) c.2422C= (p.Arg808=) c.2395C= (p.Arg799=) c.2389C= (p.Arg797=) c.2383C= (p.Arg795=) c.2332C= (p.Arg778=) c.2251C= (p.Arg751=) c.2308-200C= (n.2308-200C=) c.2173C= (p.Arg725=) c.2208+1189C= (n.2208+1189C=) c.1393C= (p.Arg465=) n.2669C= | |
17 | g.39724849C>G | CA399303463 | ERBB2 | c.2431C>G (p.Arg811Gly) c.2341C>G (p.Arg781Gly) c.1603C>G (p.Arg535Gly) c.2386C>G (p.Arg796Gly) c.*2221C>G (n.*2221C>G) c.537C>G n.3565C>G n.2755C>G c.2569C>G (p.Arg857Gly) c.2524C>G (p.Arg842Gly) c.2479C>G (p.Arg827Gly) c.2548C>G (p.Arg850Gly) c.2533C>G (p.Arg845Gly) c.2512C>G (p.Arg838Gly) c.2506C>G (p.Arg836Gly) c.2461C>G (p.Arg821Gly) c.2452C>G (p.Arg818Gly) c.2428C>G (p.Arg810Gly) c.2422C>G (p.Arg808Gly) c.2395C>G (p.Arg799Gly) c.2389C>G (p.Arg797Gly) c.2383C>G (p.Arg795Gly) c.2332C>G (p.Arg778Gly) c.2251C>G (p.Arg751Gly) c.2308-200C>G (n.2308-200C>G) c.2173C>G (p.Arg725Gly) c.2208+1189C>G (n.2208+1189C>G) c.1393C>G (p.Arg465Gly) n.2669C>G | |
17 | g.39724849C>T | CA8534296 | ERBB2 | c.2431C>T (p.Arg811Trp) c.2341C>T (p.Arg781Trp) c.1603C>T (p.Arg535Trp) c.2386C>T (p.Arg796Trp) c.*2221C>T (n.*2221C>T) c.537C>T n.3565C>T n.2755C>T c.2569C>T (p.Arg857Trp) c.2524C>T (p.Arg842Trp) c.2479C>T (p.Arg827Trp) c.2548C>T (p.Arg850Trp) c.2533C>T (p.Arg845Trp) c.2512C>T (p.Arg838Trp) c.2506C>T (p.Arg836Trp) c.2461C>T (p.Arg821Trp) c.2452C>T (p.Arg818Trp) c.2428C>T (p.Arg810Trp) c.2422C>T (p.Arg808Trp) c.2395C>T (p.Arg799Trp) c.2389C>T (p.Arg797Trp) c.2383C>T (p.Arg795Trp) c.2332C>T (p.Arg778Trp) c.2251C>T (p.Arg751Trp) c.2308-200C>T (n.2308-200C>T) c.2173C>T (p.Arg725Trp) c.2208+1189C>T (n.2208+1189C>T) c.1393C>T (p.Arg465Trp) n.2669C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724850G>A | CA8534297 | ERBB2 | c.2432G>A (p.Arg811Gln) c.2342G>A (p.Arg781Gln) c.1604G>A (p.Arg535Gln) c.2387G>A (p.Arg796Gln) c.*2222G>A (n.*2222G>A) c.538G>A n.3566G>A n.2756G>A c.2570G>A (p.Arg857Gln) c.2525G>A (p.Arg842Gln) c.2480G>A (p.Arg827Gln) c.2549G>A (p.Arg850Gln) c.2534G>A (p.Arg845Gln) c.2513G>A (p.Arg838Gln) c.2507G>A (p.Arg836Gln) c.2462G>A (p.Arg821Gln) c.2453G>A (p.Arg818Gln) c.2429G>A (p.Arg810Gln) c.2423G>A (p.Arg808Gln) c.2396G>A (p.Arg799Gln) c.2390G>A (p.Arg797Gln) c.2384G>A (p.Arg795Gln) c.2333G>A (p.Arg778Gln) c.2252G>A (p.Arg751Gln) c.2308-199G>A (n.2308-199G>A) c.2174G>A (p.Arg725Gln) c.2208+1190G>A (n.2208+1190G>A) c.1394G>A (p.Arg465Gln) n.2670G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724850G>C | CA399303471 | ERBB2 | c.2432G>C (p.Arg811Pro) c.2342G>C (p.Arg781Pro) c.1604G>C (p.Arg535Pro) c.2387G>C (p.Arg796Pro) c.*2222G>C (n.*2222G>C) c.538G>C n.3566G>C n.2756G>C c.2570G>C (p.Arg857Pro) c.2525G>C (p.Arg842Pro) c.2480G>C (p.Arg827Pro) c.2549G>C (p.Arg850Pro) c.2534G>C (p.Arg845Pro) c.2513G>C (p.Arg838Pro) c.2507G>C (p.Arg836Pro) c.2462G>C (p.Arg821Pro) c.2453G>C (p.Arg818Pro) c.2429G>C (p.Arg810Pro) c.2423G>C (p.Arg808Pro) c.2396G>C (p.Arg799Pro) c.2390G>C (p.Arg797Pro) c.2384G>C (p.Arg795Pro) c.2333G>C (p.Arg778Pro) c.2252G>C (p.Arg751Pro) c.2308-199G>C (n.2308-199G>C) c.2174G>C (p.Arg725Pro) c.2208+1190G>C (n.2208+1190G>C) c.1394G>C (p.Arg465Pro) n.2670G>C | dbSNP |
17 | g.39724850G= | CA2259228028 | ERBB2 | c.2432G= (p.Arg811=) c.2342G= (p.Arg781=) c.1604G= (p.Arg535=) c.2387G= (p.Arg796=) c.*2222G= (n.*2222G=) c.538G= n.3566G= n.2756G= c.2570G= (p.Arg857=) c.2525G= (p.Arg842=) c.2480G= (p.Arg827=) c.2549G= (p.Arg850=) c.2534G= (p.Arg845=) c.2513G= (p.Arg838=) c.2507G= (p.Arg836=) c.2462G= (p.Arg821=) c.2453G= (p.Arg818=) c.2429G= (p.Arg810=) c.2423G= (p.Arg808=) c.2396G= (p.Arg799=) c.2390G= (p.Arg797=) c.2384G= (p.Arg795=) c.2333G= (p.Arg778=) c.2252G= (p.Arg751=) c.2308-199G= (n.2308-199G=) c.2174G= (p.Arg725=) c.2208+1190G= (n.2208+1190G=) c.1394G= (p.Arg465=) n.2670G= | |
17 | g.39724850G>T | CA399303474 | ERBB2 | c.2432G>T (p.Arg811Leu) c.2342G>T (p.Arg781Leu) c.1604G>T (p.Arg535Leu) c.2387G>T (p.Arg796Leu) c.*2222G>T (n.*2222G>T) c.538G>T n.3566G>T n.2756G>T c.2570G>T (p.Arg857Leu) c.2525G>T (p.Arg842Leu) c.2480G>T (p.Arg827Leu) c.2549G>T (p.Arg850Leu) c.2534G>T (p.Arg845Leu) c.2513G>T (p.Arg838Leu) c.2507G>T (p.Arg836Leu) c.2462G>T (p.Arg821Leu) c.2453G>T (p.Arg818Leu) c.2429G>T (p.Arg810Leu) c.2423G>T (p.Arg808Leu) c.2396G>T (p.Arg799Leu) c.2390G>T (p.Arg797Leu) c.2384G>T (p.Arg795Leu) c.2333G>T (p.Arg778Leu) c.2252G>T (p.Arg751Leu) c.2308-199G>T (n.2308-199G>T) c.2174G>T (p.Arg725Leu) c.2208+1190G>T (n.2208+1190G>T) c.1394G>T (p.Arg465Leu) n.2670G>T | dbSNP |
17 | g.39724851G>A | CA499670919 | ERBB2 | c.2433G>A (p.Arg811=) c.2343G>A (p.Arg781=) c.1605G>A (p.Arg535=) c.2388G>A (p.Arg796=) c.*2223G>A (n.*2223G>A) c.539G>A n.3567G>A n.2757G>A c.2571G>A (p.Arg857=) c.2526G>A (p.Arg842=) c.2481G>A (p.Arg827=) c.2550G>A (p.Arg850=) c.2535G>A (p.Arg845=) c.2514G>A (p.Arg838=) c.2508G>A (p.Arg836=) c.2463G>A (p.Arg821=) c.2454G>A (p.Arg818=) c.2430G>A (p.Arg810=) c.2424G>A (p.Arg808=) c.2397G>A (p.Arg799=) c.2391G>A (p.Arg797=) c.2385G>A (p.Arg795=) c.2334G>A (p.Arg778=) c.2253G>A (p.Arg751=) c.2308-198G>A (n.2308-198G>A) c.2175G>A (p.Arg725=) c.2208+1191G>A (n.2208+1191G>A) c.1395G>A (p.Arg465=) n.2671G>A | dbSNP |
17 | g.39724851G>C | CA499670920 | ERBB2 | c.2433G>C (p.Arg811=) c.2343G>C (p.Arg781=) c.1605G>C (p.Arg535=) c.2388G>C (p.Arg796=) c.*2223G>C (n.*2223G>C) c.539G>C n.3567G>C n.2757G>C c.2571G>C (p.Arg857=) c.2526G>C (p.Arg842=) c.2481G>C (p.Arg827=) c.2550G>C (p.Arg850=) c.2535G>C (p.Arg845=) c.2514G>C (p.Arg838=) c.2508G>C (p.Arg836=) c.2463G>C (p.Arg821=) c.2454G>C (p.Arg818=) c.2430G>C (p.Arg810=) c.2424G>C (p.Arg808=) c.2397G>C (p.Arg799=) c.2391G>C (p.Arg797=) c.2385G>C (p.Arg795=) c.2334G>C (p.Arg778=) c.2253G>C (p.Arg751=) c.2308-198G>C (n.2308-198G>C) c.2175G>C (p.Arg725=) c.2208+1191G>C (n.2208+1191G>C) c.1395G>C (p.Arg465=) n.2671G>C | dbSNP |
17 | g.39724851G>T | CA499670921 | ERBB2 | c.2433G>T (p.Arg811=) c.2343G>T (p.Arg781=) c.1605G>T (p.Arg535=) c.2388G>T (p.Arg796=) c.*2223G>T (n.*2223G>T) c.539G>T n.3567G>T n.2757G>T c.2571G>T (p.Arg857=) c.2526G>T (p.Arg842=) c.2481G>T (p.Arg827=) c.2550G>T (p.Arg850=) c.2535G>T (p.Arg845=) c.2514G>T (p.Arg838=) c.2508G>T (p.Arg836=) c.2463G>T (p.Arg821=) c.2454G>T (p.Arg818=) c.2430G>T (p.Arg810=) c.2424G>T (p.Arg808=) c.2397G>T (p.Arg799=) c.2391G>T (p.Arg797=) c.2385G>T (p.Arg795=) c.2334G>T (p.Arg778=) c.2253G>T (p.Arg751=) c.2308-198G>T (n.2308-198G>T) c.2175G>T (p.Arg725=) c.2208+1191G>T (n.2208+1191G>T) c.1395G>T (p.Arg465=) n.2671G>T | dbSNP |
17 | g.39724852G>A | CA399303477 | ERBB2 | c.2434G>A (p.Glu812Lys) c.2344G>A (p.Glu782Lys) c.1606G>A (p.Glu536Lys) c.2389G>A (p.Glu797Lys) c.*2224G>A (n.*2224G>A) c.540G>A n.3568G>A n.2758G>A c.2572G>A (p.Glu858Lys) c.2527G>A (p.Glu843Lys) c.2482G>A (p.Glu828Lys) c.2551G>A (p.Glu851Lys) c.2536G>A (p.Glu846Lys) c.2515G>A (p.Glu839Lys) c.2509G>A (p.Glu837Lys) c.2464G>A (p.Glu822Lys) c.2455G>A (p.Glu819Lys) c.2431G>A (p.Glu811Lys) c.2425G>A (p.Glu809Lys) c.2398G>A (p.Glu800Lys) c.2392G>A (p.Glu798Lys) c.2386G>A (p.Glu796Lys) c.2335G>A (p.Glu779Lys) c.2254G>A (p.Glu752Lys) c.2308-197G>A (n.2308-197G>A) c.2176G>A (p.Glu726Lys) c.2208+1192G>A (n.2208+1192G>A) c.1396G>A (p.Glu466Lys) n.2672G>A | dbSNP |
17 | g.39724852G>C | CA399303481 | ERBB2 | c.2434G>C (p.Glu812Gln) c.2344G>C (p.Glu782Gln) c.1606G>C (p.Glu536Gln) c.2389G>C (p.Glu797Gln) c.*2224G>C (n.*2224G>C) c.540G>C n.3568G>C n.2758G>C c.2572G>C (p.Glu858Gln) c.2527G>C (p.Glu843Gln) c.2482G>C (p.Glu828Gln) c.2551G>C (p.Glu851Gln) c.2536G>C (p.Glu846Gln) c.2515G>C (p.Glu839Gln) c.2509G>C (p.Glu837Gln) c.2464G>C (p.Glu822Gln) c.2455G>C (p.Glu819Gln) c.2431G>C (p.Glu811Gln) c.2425G>C (p.Glu809Gln) c.2398G>C (p.Glu800Gln) c.2392G>C (p.Glu798Gln) c.2386G>C (p.Glu796Gln) c.2335G>C (p.Glu779Gln) c.2254G>C (p.Glu752Gln) c.2308-197G>C (n.2308-197G>C) c.2176G>C (p.Glu726Gln) c.2208+1192G>C (n.2208+1192G>C) c.1396G>C (p.Glu466Gln) n.2672G>C | dbSNP |
17 | g.39724852G>T | CA399303483 | ERBB2 | c.2434G>T (p.Glu812Ter) c.2344G>T (p.Glu782Ter) c.1606G>T (p.Glu536Ter) c.2389G>T (p.Glu797Ter) c.*2224G>T (n.*2224G>T) c.540G>T n.3568G>T n.2758G>T c.2572G>T (p.Glu858Ter) c.2527G>T (p.Glu843Ter) c.2482G>T (p.Glu828Ter) c.2551G>T (p.Glu851Ter) c.2536G>T (p.Glu846Ter) c.2515G>T (p.Glu839Ter) c.2509G>T (p.Glu837Ter) c.2464G>T (p.Glu822Ter) c.2455G>T (p.Glu819Ter) c.2431G>T (p.Glu811Ter) c.2425G>T (p.Glu809Ter) c.2398G>T (p.Glu800Ter) c.2392G>T (p.Glu798Ter) c.2386G>T (p.Glu796Ter) c.2335G>T (p.Glu779Ter) c.2254G>T (p.Glu752Ter) c.2308-197G>T (n.2308-197G>T) c.2176G>T (p.Glu726Ter) c.2208+1192G>T (n.2208+1192G>T) c.1396G>T (p.Glu466Ter) n.2672G>T | dbSNP |
17 | g.39724853A>C | CA399303487 | ERBB2 | c.2435A>C (p.Glu812Ala) c.2345A>C (p.Glu782Ala) c.1607A>C (p.Glu536Ala) c.2390A>C (p.Glu797Ala) c.*2225A>C (n.*2225A>C) c.541A>C n.3569A>C n.2759A>C c.2573A>C (p.Glu858Ala) c.2528A>C (p.Glu843Ala) c.2483A>C (p.Glu828Ala) c.2552A>C (p.Glu851Ala) c.2537A>C (p.Glu846Ala) c.2516A>C (p.Glu839Ala) c.2510A>C (p.Glu837Ala) c.2465A>C (p.Glu822Ala) c.2456A>C (p.Glu819Ala) c.2432A>C (p.Glu811Ala) c.2426A>C (p.Glu809Ala) c.2399A>C (p.Glu800Ala) c.2393A>C (p.Glu798Ala) c.2387A>C (p.Glu796Ala) c.2336A>C (p.Glu779Ala) c.2255A>C (p.Glu752Ala) c.2308-196A>C (n.2308-196A>C) c.2177A>C (p.Glu726Ala) c.2208+1193A>C (n.2208+1193A>C) c.1397A>C (p.Glu466Ala) n.2673A>C | gnomAD v4 |
17 | g.39724853A>G | CA399303491 | ERBB2 | c.2435A>G (p.Glu812Gly) c.2345A>G (p.Glu782Gly) c.1607A>G (p.Glu536Gly) c.2390A>G (p.Glu797Gly) c.*2225A>G (n.*2225A>G) c.541A>G n.3569A>G n.2759A>G c.2573A>G (p.Glu858Gly) c.2528A>G (p.Glu843Gly) c.2483A>G (p.Glu828Gly) c.2552A>G (p.Glu851Gly) c.2537A>G (p.Glu846Gly) c.2516A>G (p.Glu839Gly) c.2510A>G (p.Glu837Gly) c.2465A>G (p.Glu822Gly) c.2456A>G (p.Glu819Gly) c.2432A>G (p.Glu811Gly) c.2426A>G (p.Glu809Gly) c.2399A>G (p.Glu800Gly) c.2393A>G (p.Glu798Gly) c.2387A>G (p.Glu796Gly) c.2336A>G (p.Glu779Gly) c.2255A>G (p.Glu752Gly) c.2308-196A>G (n.2308-196A>G) c.2177A>G (p.Glu726Gly) c.2208+1193A>G (n.2208+1193A>G) c.1397A>G (p.Glu466Gly) n.2673A>G | dbSNP |
17 | g.39724853A>T | CA399303496 | ERBB2 | c.2435A>T (p.Glu812Val) c.2345A>T (p.Glu782Val) c.1607A>T (p.Glu536Val) c.2390A>T (p.Glu797Val) c.*2225A>T (n.*2225A>T) c.541A>T n.3569A>T n.2759A>T c.2573A>T (p.Glu858Val) c.2528A>T (p.Glu843Val) c.2483A>T (p.Glu828Val) c.2552A>T (p.Glu851Val) c.2537A>T (p.Glu846Val) c.2516A>T (p.Glu839Val) c.2510A>T (p.Glu837Val) c.2465A>T (p.Glu822Val) c.2456A>T (p.Glu819Val) c.2432A>T (p.Glu811Val) c.2426A>T (p.Glu809Val) c.2399A>T (p.Glu800Val) c.2393A>T (p.Glu798Val) c.2387A>T (p.Glu796Val) c.2336A>T (p.Glu779Val) c.2255A>T (p.Glu752Val) c.2308-196A>T (n.2308-196A>T) c.2177A>T (p.Glu726Val) c.2208+1193A>T (n.2208+1193A>T) c.1397A>T (p.Glu466Val) n.2673A>T | dbSNP |
17 | g.39724854A>C | CA399303499 | ERBB2 | c.2436A>C (p.Glu812Asp) c.2346A>C (p.Glu782Asp) c.1608A>C (p.Glu536Asp) c.2391A>C (p.Glu797Asp) c.*2226A>C (n.*2226A>C) c.542A>C n.3570A>C n.2760A>C c.2574A>C (p.Glu858Asp) c.2529A>C (p.Glu843Asp) c.2484A>C (p.Glu828Asp) c.2553A>C (p.Glu851Asp) c.2538A>C (p.Glu846Asp) c.2517A>C (p.Glu839Asp) c.2511A>C (p.Glu837Asp) c.2466A>C (p.Glu822Asp) c.2457A>C (p.Glu819Asp) c.2433A>C (p.Glu811Asp) c.2427A>C (p.Glu809Asp) c.2400A>C (p.Glu800Asp) c.2394A>C (p.Glu798Asp) c.2388A>C (p.Glu796Asp) c.2337A>C (p.Glu779Asp) c.2256A>C (p.Glu752Asp) c.2308-195A>C (n.2308-195A>C) c.2178A>C (p.Glu726Asp) c.2208+1194A>C (n.2208+1194A>C) c.1398A>C (p.Glu466Asp) n.2674A>C | gnomAD v4 |
17 | g.39724854A>G | CA499670922 | ERBB2 | c.2436A>G (p.Glu812=) c.2346A>G (p.Glu782=) c.1608A>G (p.Glu536=) c.2391A>G (p.Glu797=) c.*2226A>G (n.*2226A>G) c.542A>G n.3570A>G n.2760A>G c.2574A>G (p.Glu858=) c.2529A>G (p.Glu843=) c.2484A>G (p.Glu828=) c.2553A>G (p.Glu851=) c.2538A>G (p.Glu846=) c.2517A>G (p.Glu839=) c.2511A>G (p.Glu837=) c.2466A>G (p.Glu822=) c.2457A>G (p.Glu819=) c.2433A>G (p.Glu811=) c.2427A>G (p.Glu809=) c.2400A>G (p.Glu800=) c.2394A>G (p.Glu798=) c.2388A>G (p.Glu796=) c.2337A>G (p.Glu779=) c.2256A>G (p.Glu752=) c.2308-195A>G (n.2308-195A>G) c.2178A>G (p.Glu726=) c.2208+1194A>G (n.2208+1194A>G) c.1398A>G (p.Glu466=) n.2674A>G | dbSNP |
17 | g.39724854A>T | CA399303502 | ERBB2 | c.2436A>T (p.Glu812Asp) c.2346A>T (p.Glu782Asp) c.1608A>T (p.Glu536Asp) c.2391A>T (p.Glu797Asp) c.*2226A>T (n.*2226A>T) c.542A>T n.3570A>T n.2760A>T c.2574A>T (p.Glu858Asp) c.2529A>T (p.Glu843Asp) c.2484A>T (p.Glu828Asp) c.2553A>T (p.Glu851Asp) c.2538A>T (p.Glu846Asp) c.2517A>T (p.Glu839Asp) c.2511A>T (p.Glu837Asp) c.2466A>T (p.Glu822Asp) c.2457A>T (p.Glu819Asp) c.2433A>T (p.Glu811Asp) c.2427A>T (p.Glu809Asp) c.2400A>T (p.Glu800Asp) c.2394A>T (p.Glu798Asp) c.2388A>T (p.Glu796Asp) c.2337A>T (p.Glu779Asp) c.2256A>T (p.Glu752Asp) c.2308-195A>T (n.2308-195A>T) c.2178A>T (p.Glu726Asp) c.2208+1194A>T (n.2208+1194A>T) c.1398A>T (p.Glu466Asp) n.2674A>T | dbSNP |
17 | g.39724855A>C | CA399303505 | ERBB2 | c.2437A>C (p.Asn813His) c.2347A>C (p.Asn783His) c.1609A>C (p.Asn537His) c.2392A>C (p.Asn798His) c.*2227A>C (n.*2227A>C) c.543A>C n.3571A>C n.2761A>C c.2575A>C (p.Asn859His) c.2530A>C (p.Asn844His) c.2485A>C (p.Asn829His) c.2554A>C (p.Asn852His) c.2539A>C (p.Asn847His) c.2518A>C (p.Asn840His) c.2512A>C (p.Asn838His) c.2467A>C (p.Asn823His) c.2458A>C (p.Asn820His) c.2434A>C (p.Asn812His) c.2428A>C (p.Asn810His) c.2401A>C (p.Asn801His) c.2395A>C (p.Asn799His) c.2389A>C (p.Asn797His) c.2338A>C (p.Asn780His) c.2257A>C (p.Asn753His) c.2308-194A>C (n.2308-194A>C) c.2179A>C (p.Asn727His) c.2208+1195A>C (n.2208+1195A>C) c.1399A>C (p.Asn467His) n.2675A>C | dbSNP gnomAD v4 |
17 | g.39724855A>G | CA399303508 | ERBB2 | c.2437A>G (p.Asn813Asp) c.2347A>G (p.Asn783Asp) c.1609A>G (p.Asn537Asp) c.2392A>G (p.Asn798Asp) c.*2227A>G (n.*2227A>G) c.543A>G n.3571A>G n.2761A>G c.2575A>G (p.Asn859Asp) c.2530A>G (p.Asn844Asp) c.2485A>G (p.Asn829Asp) c.2554A>G (p.Asn852Asp) c.2539A>G (p.Asn847Asp) c.2518A>G (p.Asn840Asp) c.2512A>G (p.Asn838Asp) c.2467A>G (p.Asn823Asp) c.2458A>G (p.Asn820Asp) c.2434A>G (p.Asn812Asp) c.2428A>G (p.Asn810Asp) c.2401A>G (p.Asn801Asp) c.2395A>G (p.Asn799Asp) c.2389A>G (p.Asn797Asp) c.2338A>G (p.Asn780Asp) c.2257A>G (p.Asn753Asp) c.2308-194A>G (n.2308-194A>G) c.2179A>G (p.Asn727Asp) c.2208+1195A>G (n.2208+1195A>G) c.1399A>G (p.Asn467Asp) n.2675A>G | dbSNP |
17 | g.39724855A>T | CA399303509 | ERBB2 | c.2437A>T (p.Asn813Tyr) c.2347A>T (p.Asn783Tyr) c.1609A>T (p.Asn537Tyr) c.2392A>T (p.Asn798Tyr) c.*2227A>T (n.*2227A>T) c.543A>T n.3571A>T n.2761A>T c.2575A>T (p.Asn859Tyr) c.2530A>T (p.Asn844Tyr) c.2485A>T (p.Asn829Tyr) c.2554A>T (p.Asn852Tyr) c.2539A>T (p.Asn847Tyr) c.2518A>T (p.Asn840Tyr) c.2512A>T (p.Asn838Tyr) c.2467A>T (p.Asn823Tyr) c.2458A>T (p.Asn820Tyr) c.2434A>T (p.Asn812Tyr) c.2428A>T (p.Asn810Tyr) c.2401A>T (p.Asn801Tyr) c.2395A>T (p.Asn799Tyr) c.2389A>T (p.Asn797Tyr) c.2338A>T (p.Asn780Tyr) c.2257A>T (p.Asn753Tyr) c.2308-194A>T (n.2308-194A>T) c.2179A>T (p.Asn727Tyr) c.2208+1195A>T (n.2208+1195A>T) c.1399A>T (p.Asn467Tyr) n.2675A>T | dbSNP |
17 | g.39724856A>C | CA399303516 | ERBB2 | c.2438A>C (p.Asn813Thr) c.2348A>C (p.Asn783Thr) c.1610A>C (p.Asn537Thr) c.2393A>C (p.Asn798Thr) c.*2228A>C (n.*2228A>C) c.544A>C n.3572A>C n.2762A>C c.2576A>C (p.Asn859Thr) c.2531A>C (p.Asn844Thr) c.2486A>C (p.Asn829Thr) c.2555A>C (p.Asn852Thr) c.2540A>C (p.Asn847Thr) c.2519A>C (p.Asn840Thr) c.2513A>C (p.Asn838Thr) c.2468A>C (p.Asn823Thr) c.2459A>C (p.Asn820Thr) c.2435A>C (p.Asn812Thr) c.2429A>C (p.Asn810Thr) c.2402A>C (p.Asn801Thr) c.2396A>C (p.Asn799Thr) c.2390A>C (p.Asn797Thr) c.2339A>C (p.Asn780Thr) c.2258A>C (p.Asn753Thr) c.2308-193A>C (n.2308-193A>C) c.2180A>C (p.Asn727Thr) c.2208+1196A>C (n.2208+1196A>C) c.1400A>C (p.Asn467Thr) n.2676A>C | dbSNP |
17 | g.39724856A>G | CA399303518 | ERBB2 | c.2438A>G (p.Asn813Ser) c.2348A>G (p.Asn783Ser) c.1610A>G (p.Asn537Ser) c.2393A>G (p.Asn798Ser) c.*2228A>G (n.*2228A>G) c.544A>G n.3572A>G n.2762A>G c.2576A>G (p.Asn859Ser) c.2531A>G (p.Asn844Ser) c.2486A>G (p.Asn829Ser) c.2555A>G (p.Asn852Ser) c.2540A>G (p.Asn847Ser) c.2519A>G (p.Asn840Ser) c.2513A>G (p.Asn838Ser) c.2468A>G (p.Asn823Ser) c.2459A>G (p.Asn820Ser) c.2435A>G (p.Asn812Ser) c.2429A>G (p.Asn810Ser) c.2402A>G (p.Asn801Ser) c.2396A>G (p.Asn799Ser) c.2390A>G (p.Asn797Ser) c.2339A>G (p.Asn780Ser) c.2258A>G (p.Asn753Ser) c.2308-193A>G (n.2308-193A>G) c.2180A>G (p.Asn727Ser) c.2208+1196A>G (n.2208+1196A>G) c.1400A>G (p.Asn467Ser) n.2676A>G | dbSNP |
17 | g.39724856A>T | CA399303520 | ERBB2 | c.2438A>T (p.Asn813Ile) c.2348A>T (p.Asn783Ile) c.1610A>T (p.Asn537Ile) c.2393A>T (p.Asn798Ile) c.*2228A>T (n.*2228A>T) c.544A>T n.3572A>T n.2762A>T c.2576A>T (p.Asn859Ile) c.2531A>T (p.Asn844Ile) c.2486A>T (p.Asn829Ile) c.2555A>T (p.Asn852Ile) c.2540A>T (p.Asn847Ile) c.2519A>T (p.Asn840Ile) c.2513A>T (p.Asn838Ile) c.2468A>T (p.Asn823Ile) c.2459A>T (p.Asn820Ile) c.2435A>T (p.Asn812Ile) c.2429A>T (p.Asn810Ile) c.2402A>T (p.Asn801Ile) c.2396A>T (p.Asn799Ile) c.2390A>T (p.Asn797Ile) c.2339A>T (p.Asn780Ile) c.2258A>T (p.Asn753Ile) c.2308-193A>T (n.2308-193A>T) c.2180A>T (p.Asn727Ile) c.2208+1196A>T (n.2208+1196A>T) c.1400A>T (p.Asn467Ile) n.2676A>T | dbSNP |
17 | g.39724857C>A | CA399303524 | ERBB2 | c.2439C>A (p.Asn813Lys) c.2349C>A (p.Asn783Lys) c.1611C>A (p.Asn537Lys) c.2394C>A (p.Asn798Lys) c.*2229C>A (n.*2229C>A) c.545C>A n.3573C>A n.2763C>A c.2577C>A (p.Asn859Lys) c.2532C>A (p.Asn844Lys) c.2487C>A (p.Asn829Lys) c.2556C>A (p.Asn852Lys) c.2541C>A (p.Asn847Lys) c.2520C>A (p.Asn840Lys) c.2514C>A (p.Asn838Lys) c.2469C>A (p.Asn823Lys) c.2460C>A (p.Asn820Lys) c.2436C>A (p.Asn812Lys) c.2430C>A (p.Asn810Lys) c.2403C>A (p.Asn801Lys) c.2397C>A (p.Asn799Lys) c.2391C>A (p.Asn797Lys) c.2340C>A (p.Asn780Lys) c.2259C>A (p.Asn753Lys) c.2308-192C>A (n.2308-192C>A) c.2181C>A (p.Asn727Lys) c.2208+1197C>A (n.2208+1197C>A) c.1401C>A (p.Asn467Lys) n.2677C>A | dbSNP |
17 | g.39724857C>G | CA399303528 | ERBB2 | c.2439C>G (p.Asn813Lys) c.2349C>G (p.Asn783Lys) c.1611C>G (p.Asn537Lys) c.2394C>G (p.Asn798Lys) c.*2229C>G (n.*2229C>G) c.545C>G n.3573C>G n.2763C>G c.2577C>G (p.Asn859Lys) c.2532C>G (p.Asn844Lys) c.2487C>G (p.Asn829Lys) c.2556C>G (p.Asn852Lys) c.2541C>G (p.Asn847Lys) c.2520C>G (p.Asn840Lys) c.2514C>G (p.Asn838Lys) c.2469C>G (p.Asn823Lys) c.2460C>G (p.Asn820Lys) c.2436C>G (p.Asn812Lys) c.2430C>G (p.Asn810Lys) c.2403C>G (p.Asn801Lys) c.2397C>G (p.Asn799Lys) c.2391C>G (p.Asn797Lys) c.2340C>G (p.Asn780Lys) c.2259C>G (p.Asn753Lys) c.2308-192C>G (n.2308-192C>G) c.2181C>G (p.Asn727Lys) c.2208+1197C>G (n.2208+1197C>G) c.1401C>G (p.Asn467Lys) n.2677C>G | dbSNP |
17 | g.39724857C>T | CA499670923 | ERBB2 | c.2439C>T (p.Asn813=) c.2349C>T (p.Asn783=) c.1611C>T (p.Asn537=) c.2394C>T (p.Asn798=) c.*2229C>T (n.*2229C>T) c.545C>T n.3573C>T n.2763C>T c.2577C>T (p.Asn859=) c.2532C>T (p.Asn844=) c.2487C>T (p.Asn829=) c.2556C>T (p.Asn852=) c.2541C>T (p.Asn847=) c.2520C>T (p.Asn840=) c.2514C>T (p.Asn838=) c.2469C>T (p.Asn823=) c.2460C>T (p.Asn820=) c.2436C>T (p.Asn812=) c.2430C>T (p.Asn810=) c.2403C>T (p.Asn801=) c.2397C>T (p.Asn799=) c.2391C>T (p.Asn797=) c.2340C>T (p.Asn780=) c.2259C>T (p.Asn753=) c.2308-192C>T (n.2308-192C>T) c.2181C>T (p.Asn727=) c.2208+1197C>T (n.2208+1197C>T) c.1401C>T (p.Asn467=) n.2677C>T | dbSNP |
17 | g.39724858C>A | CA399303534 | ERBB2 | c.2440C>A (p.Arg814Ser) c.2350C>A (p.Arg784Ser) c.1612C>A (p.Arg538Ser) c.2395C>A (p.Arg799Ser) c.*2230C>A (n.*2230C>A) c.546C>A n.3574C>A n.2764C>A c.2578C>A (p.Arg860Ser) c.2533C>A (p.Arg845Ser) c.2488C>A (p.Arg830Ser) c.2557C>A (p.Arg853Ser) c.2542C>A (p.Arg848Ser) c.2521C>A (p.Arg841Ser) c.2515C>A (p.Arg839Ser) c.2470C>A (p.Arg824Ser) c.2461C>A (p.Arg821Ser) c.2437C>A (p.Arg813Ser) c.2431C>A (p.Arg811Ser) c.2404C>A (p.Arg802Ser) c.2398C>A (p.Arg800Ser) c.2392C>A (p.Arg798Ser) c.2341C>A (p.Arg781Ser) c.2260C>A (p.Arg754Ser) c.2308-191C>A (n.2308-191C>A) c.2182C>A (p.Arg728Ser) c.2208+1198C>A (n.2208+1198C>A) c.1402C>A (p.Arg468Ser) n.2678C>A | dbSNP |
17 | g.39724858C= | CA2259228029 | ERBB2 | c.2440C= (p.Arg814=) c.2350C= (p.Arg784=) c.1612C= (p.Arg538=) c.2395C= (p.Arg799=) c.*2230C= (n.*2230C=) c.546C= n.3574C= n.2764C= c.2578C= (p.Arg860=) c.2533C= (p.Arg845=) c.2488C= (p.Arg830=) c.2557C= (p.Arg853=) c.2542C= (p.Arg848=) c.2521C= (p.Arg841=) c.2515C= (p.Arg839=) c.2470C= (p.Arg824=) c.2461C= (p.Arg821=) c.2437C= (p.Arg813=) c.2431C= (p.Arg811=) c.2404C= (p.Arg802=) c.2398C= (p.Arg800=) c.2392C= (p.Arg798=) c.2341C= (p.Arg781=) c.2260C= (p.Arg754=) c.2308-191C= (n.2308-191C=) c.2182C= (p.Arg728=) c.2208+1198C= (n.2208+1198C=) c.1402C= (p.Arg468=) n.2678C= | |
17 | g.39724858C>G | CA399303537 | ERBB2 | c.2440C>G (p.Arg814Gly) c.2350C>G (p.Arg784Gly) c.1612C>G (p.Arg538Gly) c.2395C>G (p.Arg799Gly) c.*2230C>G (n.*2230C>G) c.546C>G n.3574C>G n.2764C>G c.2578C>G (p.Arg860Gly) c.2533C>G (p.Arg845Gly) c.2488C>G (p.Arg830Gly) c.2557C>G (p.Arg853Gly) c.2542C>G (p.Arg848Gly) c.2521C>G (p.Arg841Gly) c.2515C>G (p.Arg839Gly) c.2470C>G (p.Arg824Gly) c.2461C>G (p.Arg821Gly) c.2437C>G (p.Arg813Gly) c.2431C>G (p.Arg811Gly) c.2404C>G (p.Arg802Gly) c.2398C>G (p.Arg800Gly) c.2392C>G (p.Arg798Gly) c.2341C>G (p.Arg781Gly) c.2260C>G (p.Arg754Gly) c.2308-191C>G (n.2308-191C>G) c.2182C>G (p.Arg728Gly) c.2208+1198C>G (n.2208+1198C>G) c.1402C>G (p.Arg468Gly) n.2678C>G | dbSNP |
17 | g.39724858C>T | CA158628 | ERBB2 | c.2440C>T (p.Arg814Cys) c.2350C>T (p.Arg784Cys) c.1612C>T (p.Arg538Cys) c.2395C>T (p.Arg799Cys) c.*2230C>T (n.*2230C>T) c.546C>T n.3574C>T n.2764C>T c.2578C>T (p.Arg860Cys) c.2533C>T (p.Arg845Cys) c.2488C>T (p.Arg830Cys) c.2557C>T (p.Arg853Cys) c.2542C>T (p.Arg848Cys) c.2521C>T (p.Arg841Cys) c.2515C>T (p.Arg839Cys) c.2470C>T (p.Arg824Cys) c.2461C>T (p.Arg821Cys) c.2437C>T (p.Arg813Cys) c.2431C>T (p.Arg811Cys) c.2404C>T (p.Arg802Cys) c.2398C>T (p.Arg800Cys) c.2392C>T (p.Arg798Cys) c.2341C>T (p.Arg781Cys) c.2260C>T (p.Arg754Cys) c.2308-191C>T (n.2308-191C>T) c.2182C>T (p.Arg728Cys) c.2208+1198C>T (n.2208+1198C>T) c.1402C>T (p.Arg468Cys) n.2678C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724859G>A | CA399303547 | ERBB2 | c.2441G>A (p.Arg814His) c.2351G>A (p.Arg784His) c.1613G>A (p.Arg538His) c.2396G>A (p.Arg799His) c.*2231G>A (n.*2231G>A) c.547G>A n.3575G>A n.2765G>A c.2579G>A (p.Arg860His) c.2534G>A (p.Arg845His) c.2489G>A (p.Arg830His) c.2558G>A (p.Arg853His) c.2543G>A (p.Arg848His) c.2522G>A (p.Arg841His) c.2516G>A (p.Arg839His) c.2471G>A (p.Arg824His) c.2462G>A (p.Arg821His) c.2438G>A (p.Arg813His) c.2432G>A (p.Arg811His) c.2405G>A (p.Arg802His) c.2399G>A (p.Arg800His) c.2393G>A (p.Arg798His) c.2342G>A (p.Arg781His) c.2261G>A (p.Arg754His) c.2308-190G>A (n.2308-190G>A) c.2183G>A (p.Arg728His) c.2208+1199G>A (n.2208+1199G>A) c.1403G>A (p.Arg468His) n.2679G>A | dbSNP gnomAD v4 |
17 | g.39724859G>C | CA399303545 | ERBB2 | c.2441G>C (p.Arg814Pro) c.2351G>C (p.Arg784Pro) c.1613G>C (p.Arg538Pro) c.2396G>C (p.Arg799Pro) c.*2231G>C (n.*2231G>C) c.547G>C n.3575G>C n.2765G>C c.2579G>C (p.Arg860Pro) c.2534G>C (p.Arg845Pro) c.2489G>C (p.Arg830Pro) c.2558G>C (p.Arg853Pro) c.2543G>C (p.Arg848Pro) c.2522G>C (p.Arg841Pro) c.2516G>C (p.Arg839Pro) c.2471G>C (p.Arg824Pro) c.2462G>C (p.Arg821Pro) c.2438G>C (p.Arg813Pro) c.2432G>C (p.Arg811Pro) c.2405G>C (p.Arg802Pro) c.2399G>C (p.Arg800Pro) c.2393G>C (p.Arg798Pro) c.2342G>C (p.Arg781Pro) c.2261G>C (p.Arg754Pro) c.2308-190G>C (n.2308-190G>C) c.2183G>C (p.Arg728Pro) c.2208+1199G>C (n.2208+1199G>C) c.1403G>C (p.Arg468Pro) n.2679G>C | dbSNP |
17 | g.39724859G= | CA2259228030 | ERBB2 | c.2441G= (p.Arg814=) c.2351G= (p.Arg784=) c.1613G= (p.Arg538=) c.2396G= (p.Arg799=) c.*2231G= (n.*2231G=) c.547G= n.3575G= n.2765G= c.2579G= (p.Arg860=) c.2534G= (p.Arg845=) c.2489G= (p.Arg830=) c.2558G= (p.Arg853=) c.2543G= (p.Arg848=) c.2522G= (p.Arg841=) c.2516G= (p.Arg839=) c.2471G= (p.Arg824=) c.2462G= (p.Arg821=) c.2438G= (p.Arg813=) c.2432G= (p.Arg811=) c.2405G= (p.Arg802=) c.2399G= (p.Arg800=) c.2393G= (p.Arg798=) c.2342G= (p.Arg781=) c.2261G= (p.Arg754=) c.2308-190G= (n.2308-190G=) c.2183G= (p.Arg728=) c.2208+1199G= (n.2208+1199G=) c.1403G= (p.Arg468=) n.2679G= | |
17 | g.39724859G>T | CA399303543 | ERBB2 | c.2441G>T (p.Arg814Leu) c.2351G>T (p.Arg784Leu) c.1613G>T (p.Arg538Leu) c.2396G>T (p.Arg799Leu) c.*2231G>T (n.*2231G>T) c.547G>T n.3575G>T n.2765G>T c.2579G>T (p.Arg860Leu) c.2534G>T (p.Arg845Leu) c.2489G>T (p.Arg830Leu) c.2558G>T (p.Arg853Leu) c.2543G>T (p.Arg848Leu) c.2522G>T (p.Arg841Leu) c.2516G>T (p.Arg839Leu) c.2471G>T (p.Arg824Leu) c.2462G>T (p.Arg821Leu) c.2438G>T (p.Arg813Leu) c.2432G>T (p.Arg811Leu) c.2405G>T (p.Arg802Leu) c.2399G>T (p.Arg800Leu) c.2393G>T (p.Arg798Leu) c.2342G>T (p.Arg781Leu) c.2261G>T (p.Arg754Leu) c.2308-190G>T (n.2308-190G>T) c.2183G>T (p.Arg728Leu) c.2208+1199G>T (n.2208+1199G>T) c.1403G>T (p.Arg468Leu) n.2679G>T | dbSNP |
17 | g.39724860C>A | CA499670924 | ERBB2 | c.2442C>A (p.Arg814=) c.2352C>A (p.Arg784=) c.1614C>A (p.Arg538=) c.2397C>A (p.Arg799=) c.*2232C>A (n.*2232C>A) c.548C>A n.3576C>A n.2766C>A c.2580C>A (p.Arg860=) c.2535C>A (p.Arg845=) c.2490C>A (p.Arg830=) c.2559C>A (p.Arg853=) c.2544C>A (p.Arg848=) c.2523C>A (p.Arg841=) c.2517C>A (p.Arg839=) c.2472C>A (p.Arg824=) c.2463C>A (p.Arg821=) c.2439C>A (p.Arg813=) c.2433C>A (p.Arg811=) c.2406C>A (p.Arg802=) c.2400C>A (p.Arg800=) c.2394C>A (p.Arg798=) c.2343C>A (p.Arg781=) c.2262C>A (p.Arg754=) c.2308-189C>A (n.2308-189C>A) c.2184C>A (p.Arg728=) c.2208+1200C>A (n.2208+1200C>A) c.1404C>A (p.Arg468=) n.2680C>A | |
17 | g.39724860C= | CA2259228031 | ERBB2 | c.2442C= (p.Arg814=) c.2352C= (p.Arg784=) c.1614C= (p.Arg538=) c.2397C= (p.Arg799=) c.*2232C= (n.*2232C=) c.548C= n.3576C= n.2766C= c.2580C= (p.Arg860=) c.2535C= (p.Arg845=) c.2490C= (p.Arg830=) c.2559C= (p.Arg853=) c.2544C= (p.Arg848=) c.2523C= (p.Arg841=) c.2517C= (p.Arg839=) c.2472C= (p.Arg824=) c.2463C= (p.Arg821=) c.2439C= (p.Arg813=) c.2433C= (p.Arg811=) c.2406C= (p.Arg802=) c.2400C= (p.Arg800=) c.2394C= (p.Arg798=) c.2343C= (p.Arg781=) c.2262C= (p.Arg754=) c.2308-189C= (n.2308-189C=) c.2184C= (p.Arg728=) c.2208+1200C= (n.2208+1200C=) c.1404C= (p.Arg468=) n.2680C= | |
17 | g.39724860C>G | CA499670925 | ERBB2 | c.2442C>G (p.Arg814=) c.2352C>G (p.Arg784=) c.1614C>G (p.Arg538=) c.2397C>G (p.Arg799=) c.*2232C>G (n.*2232C>G) c.548C>G n.3576C>G n.2766C>G c.2580C>G (p.Arg860=) c.2535C>G (p.Arg845=) c.2490C>G (p.Arg830=) c.2559C>G (p.Arg853=) c.2544C>G (p.Arg848=) c.2523C>G (p.Arg841=) c.2517C>G (p.Arg839=) c.2472C>G (p.Arg824=) c.2463C>G (p.Arg821=) c.2439C>G (p.Arg813=) c.2433C>G (p.Arg811=) c.2406C>G (p.Arg802=) c.2400C>G (p.Arg800=) c.2394C>G (p.Arg798=) c.2343C>G (p.Arg781=) c.2262C>G (p.Arg754=) c.2308-189C>G (n.2308-189C>G) c.2184C>G (p.Arg728=) c.2208+1200C>G (n.2208+1200C>G) c.1404C>G (p.Arg468=) n.2680C>G | |
17 | g.39724860C>T | CA8534298 | ERBB2 | c.2442C>T (p.Arg814=) c.2352C>T (p.Arg784=) c.1614C>T (p.Arg538=) c.2397C>T (p.Arg799=) c.*2232C>T (n.*2232C>T) c.548C>T n.3576C>T n.2766C>T c.2580C>T (p.Arg860=) c.2535C>T (p.Arg845=) c.2490C>T (p.Arg830=) c.2559C>T (p.Arg853=) c.2544C>T (p.Arg848=) c.2523C>T (p.Arg841=) c.2517C>T (p.Arg839=) c.2472C>T (p.Arg824=) c.2463C>T (p.Arg821=) c.2439C>T (p.Arg813=) c.2433C>T (p.Arg811=) c.2406C>T (p.Arg802=) c.2400C>T (p.Arg800=) c.2394C>T (p.Arg798=) c.2343C>T (p.Arg781=) c.2262C>T (p.Arg754=) c.2308-189C>T (n.2308-189C>T) c.2184C>T (p.Arg728=) c.2208+1200C>T (n.2208+1200C>T) c.1404C>T (p.Arg468=) n.2680C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724861G>A | CA135402 | ERBB2 | c.2443G>A (p.Gly815Arg) c.2353G>A (p.Gly785Arg) c.1615G>A (p.Gly539Arg) c.2398G>A (p.Gly800Arg) c.*2233G>A (n.*2233G>A) c.549G>A n.3577G>A n.2767G>A c.2581G>A (p.Gly861Arg) c.2536G>A (p.Gly846Arg) c.2491G>A (p.Gly831Arg) c.2560G>A (p.Gly854Arg) c.2545G>A (p.Gly849Arg) c.2524G>A (p.Gly842Arg) c.2518G>A (p.Gly840Arg) c.2473G>A (p.Gly825Arg) c.2464G>A (p.Gly822Arg) c.2440G>A (p.Gly814Arg) c.2434G>A (p.Gly812Arg) c.2407G>A (p.Gly803Arg) c.2401G>A (p.Gly801Arg) c.2395G>A (p.Gly799Arg) c.2344G>A (p.Gly782Arg) c.2263G>A (p.Gly755Arg) c.2308-188G>A (n.2308-188G>A) c.2185G>A (p.Gly729Arg) c.2208+1201G>A (n.2208+1201G>A) c.1405G>A (p.Gly469Arg) n.2681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724861G>C | CA399303556 | ERBB2 | c.2443G>C (p.Gly815Arg) c.2353G>C (p.Gly785Arg) c.1615G>C (p.Gly539Arg) c.2398G>C (p.Gly800Arg) c.*2233G>C (n.*2233G>C) c.549G>C n.3577G>C n.2767G>C c.2581G>C (p.Gly861Arg) c.2536G>C (p.Gly846Arg) c.2491G>C (p.Gly831Arg) c.2560G>C (p.Gly854Arg) c.2545G>C (p.Gly849Arg) c.2524G>C (p.Gly842Arg) c.2518G>C (p.Gly840Arg) c.2473G>C (p.Gly825Arg) c.2464G>C (p.Gly822Arg) c.2440G>C (p.Gly814Arg) c.2434G>C (p.Gly812Arg) c.2407G>C (p.Gly803Arg) c.2401G>C (p.Gly801Arg) c.2395G>C (p.Gly799Arg) c.2344G>C (p.Gly782Arg) c.2263G>C (p.Gly755Arg) c.2308-188G>C (n.2308-188G>C) c.2185G>C (p.Gly729Arg) c.2208+1201G>C (n.2208+1201G>C) c.1405G>C (p.Gly469Arg) n.2681G>C | |
17 | g.39724861G= | CA2259228032 | ERBB2 | c.2443G= (p.Gly815=) c.2353G= (p.Gly785=) c.1615G= (p.Gly539=) c.2398G= (p.Gly800=) c.*2233G= (n.*2233G=) c.549G= n.3577G= n.2767G= c.2581G= (p.Gly861=) c.2536G= (p.Gly846=) c.2491G= (p.Gly831=) c.2560G= (p.Gly854=) c.2545G= (p.Gly849=) c.2524G= (p.Gly842=) c.2518G= (p.Gly840=) c.2473G= (p.Gly825=) c.2464G= (p.Gly822=) c.2440G= (p.Gly814=) c.2434G= (p.Gly812=) c.2407G= (p.Gly803=) c.2401G= (p.Gly801=) c.2395G= (p.Gly799=) c.2344G= (p.Gly782=) c.2263G= (p.Gly755=) c.2308-188G= (n.2308-188G=) c.2185G= (p.Gly729=) c.2208+1201G= (n.2208+1201G=) c.1405G= (p.Gly469=) n.2681G= | |
17 | g.39724861G>T | CA399303559 | ERBB2 | c.2443G>T (p.Gly815Ter) c.2353G>T (p.Gly785Ter) c.1615G>T (p.Gly539Ter) c.2398G>T (p.Gly800Ter) c.*2233G>T (n.*2233G>T) c.549G>T n.3577G>T n.2767G>T c.2581G>T (p.Gly861Ter) c.2536G>T (p.Gly846Ter) c.2491G>T (p.Gly831Ter) c.2560G>T (p.Gly854Ter) c.2545G>T (p.Gly849Ter) c.2524G>T (p.Gly842Ter) c.2518G>T (p.Gly840Ter) c.2473G>T (p.Gly825Ter) c.2464G>T (p.Gly822Ter) c.2440G>T (p.Gly814Ter) c.2434G>T (p.Gly812Ter) c.2407G>T (p.Gly803Ter) c.2401G>T (p.Gly801Ter) c.2395G>T (p.Gly799Ter) c.2344G>T (p.Gly782Ter) c.2263G>T (p.Gly755Ter) c.2308-188G>T (n.2308-188G>T) c.2185G>T (p.Gly729Ter) c.2208+1201G>T (n.2208+1201G>T) c.1405G>T (p.Gly469Ter) n.2681G>T | |
17 | g.39724862G>A | CA399303565 | ERBB2 | c.2444G>A (p.Gly815Glu) c.2354G>A (p.Gly785Glu) c.1616G>A (p.Gly539Glu) c.2399G>A (p.Gly800Glu) c.*2234G>A (n.*2234G>A) c.550G>A n.3578G>A n.2768G>A c.2582G>A (p.Gly861Glu) c.2537G>A (p.Gly846Glu) c.2492G>A (p.Gly831Glu) c.2561G>A (p.Gly854Glu) c.2546G>A (p.Gly849Glu) c.2525G>A (p.Gly842Glu) c.2519G>A (p.Gly840Glu) c.2474G>A (p.Gly825Glu) c.2465G>A (p.Gly822Glu) c.2441G>A (p.Gly814Glu) c.2435G>A (p.Gly812Glu) c.2408G>A (p.Gly803Glu) c.2402G>A (p.Gly801Glu) c.2396G>A (p.Gly799Glu) c.2345G>A (p.Gly782Glu) c.2264G>A (p.Gly755Glu) c.2308-187G>A (n.2308-187G>A) c.2186G>A (p.Gly729Glu) c.2208+1202G>A (n.2208+1202G>A) c.1406G>A (p.Gly469Glu) n.2682G>A | dbSNP |
17 | g.39724862G>C | CA399303568 | ERBB2 | c.2444G>C (p.Gly815Ala) c.2354G>C (p.Gly785Ala) c.1616G>C (p.Gly539Ala) c.2399G>C (p.Gly800Ala) c.*2234G>C (n.*2234G>C) c.550G>C n.3578G>C n.2768G>C c.2582G>C (p.Gly861Ala) c.2537G>C (p.Gly846Ala) c.2492G>C (p.Gly831Ala) c.2561G>C (p.Gly854Ala) c.2546G>C (p.Gly849Ala) c.2525G>C (p.Gly842Ala) c.2519G>C (p.Gly840Ala) c.2474G>C (p.Gly825Ala) c.2465G>C (p.Gly822Ala) c.2441G>C (p.Gly814Ala) c.2435G>C (p.Gly812Ala) c.2408G>C (p.Gly803Ala) c.2402G>C (p.Gly801Ala) c.2396G>C (p.Gly799Ala) c.2345G>C (p.Gly782Ala) c.2264G>C (p.Gly755Ala) c.2308-187G>C (n.2308-187G>C) c.2186G>C (p.Gly729Ala) c.2208+1202G>C (n.2208+1202G>C) c.1406G>C (p.Gly469Ala) n.2682G>C | dbSNP |
17 | g.39724862G>T | CA399303572 | ERBB2 | c.2444G>T (p.Gly815Val) c.2354G>T (p.Gly785Val) c.1616G>T (p.Gly539Val) c.2399G>T (p.Gly800Val) c.*2234G>T (n.*2234G>T) c.550G>T n.3578G>T n.2768G>T c.2582G>T (p.Gly861Val) c.2537G>T (p.Gly846Val) c.2492G>T (p.Gly831Val) c.2561G>T (p.Gly854Val) c.2546G>T (p.Gly849Val) c.2525G>T (p.Gly842Val) c.2519G>T (p.Gly840Val) c.2474G>T (p.Gly825Val) c.2465G>T (p.Gly822Val) c.2441G>T (p.Gly814Val) c.2435G>T (p.Gly812Val) c.2408G>T (p.Gly803Val) c.2402G>T (p.Gly801Val) c.2396G>T (p.Gly799Val) c.2345G>T (p.Gly782Val) c.2264G>T (p.Gly755Val) c.2308-187G>T (n.2308-187G>T) c.2186G>T (p.Gly729Val) c.2208+1202G>T (n.2208+1202G>T) c.1406G>T (p.Gly469Val) n.2682G>T | dbSNP |
17 | g.39724863A>C | CA499670926 | ERBB2 | c.2445A>C (p.Gly815=) c.2355A>C (p.Gly785=) c.1617A>C (p.Gly539=) c.2400A>C (p.Gly800=) c.*2235A>C (n.*2235A>C) c.551A>C n.3579A>C n.2769A>C c.2583A>C (p.Gly861=) c.2538A>C (p.Gly846=) c.2493A>C (p.Gly831=) c.2562A>C (p.Gly854=) c.2547A>C (p.Gly849=) c.2526A>C (p.Gly842=) c.2520A>C (p.Gly840=) c.2475A>C (p.Gly825=) c.2466A>C (p.Gly822=) c.2442A>C (p.Gly814=) c.2436A>C (p.Gly812=) c.2409A>C (p.Gly803=) c.2403A>C (p.Gly801=) c.2397A>C (p.Gly799=) c.2346A>C (p.Gly782=) c.2265A>C (p.Gly755=) c.2308-186A>C (n.2308-186A>C) c.2187A>C (p.Gly729=) c.2208+1203A>C (n.2208+1203A>C) c.1407A>C (p.Gly469=) n.2683A>C | dbSNP |
17 | g.39724863A>G | CA499670927 | ERBB2 | c.2445A>G (p.Gly815=) c.2355A>G (p.Gly785=) c.1617A>G (p.Gly539=) c.2400A>G (p.Gly800=) c.*2235A>G (n.*2235A>G) c.551A>G n.3579A>G n.2769A>G c.2583A>G (p.Gly861=) c.2538A>G (p.Gly846=) c.2493A>G (p.Gly831=) c.2562A>G (p.Gly854=) c.2547A>G (p.Gly849=) c.2526A>G (p.Gly842=) c.2520A>G (p.Gly840=) c.2475A>G (p.Gly825=) c.2466A>G (p.Gly822=) c.2442A>G (p.Gly814=) c.2436A>G (p.Gly812=) c.2409A>G (p.Gly803=) c.2403A>G (p.Gly801=) c.2397A>G (p.Gly799=) c.2346A>G (p.Gly782=) c.2265A>G (p.Gly755=) c.2308-186A>G (n.2308-186A>G) c.2187A>G (p.Gly729=) c.2208+1203A>G (n.2208+1203A>G) c.1407A>G (p.Gly469=) n.2683A>G | dbSNP |
17 | g.39724863A>T | CA499670928 | ERBB2 | c.2445A>T (p.Gly815=) c.2355A>T (p.Gly785=) c.1617A>T (p.Gly539=) c.2400A>T (p.Gly800=) c.*2235A>T (n.*2235A>T) c.551A>T n.3579A>T n.2769A>T c.2583A>T (p.Gly861=) c.2538A>T (p.Gly846=) c.2493A>T (p.Gly831=) c.2562A>T (p.Gly854=) c.2547A>T (p.Gly849=) c.2526A>T (p.Gly842=) c.2520A>T (p.Gly840=) c.2475A>T (p.Gly825=) c.2466A>T (p.Gly822=) c.2442A>T (p.Gly814=) c.2436A>T (p.Gly812=) c.2409A>T (p.Gly803=) c.2403A>T (p.Gly801=) c.2397A>T (p.Gly799=) c.2346A>T (p.Gly782=) c.2265A>T (p.Gly755=) c.2308-186A>T (n.2308-186A>T) c.2187A>T (p.Gly729=) c.2208+1203A>T (n.2208+1203A>T) c.1407A>T (p.Gly469=) n.2683A>T | dbSNP |
17 | g.39724864C>A | CA399303577 | ERBB2 | c.2446C>A (p.Arg816Ser) c.2356C>A (p.Arg786Ser) c.1618C>A (p.Arg540Ser) c.2401C>A (p.Arg801Ser) c.*2236C>A (n.*2236C>A) c.552C>A n.3580C>A n.2770C>A c.2584C>A (p.Arg862Ser) c.2539C>A (p.Arg847Ser) c.2494C>A (p.Arg832Ser) c.2563C>A (p.Arg855Ser) c.2548C>A (p.Arg850Ser) c.2527C>A (p.Arg843Ser) c.2521C>A (p.Arg841Ser) c.2476C>A (p.Arg826Ser) c.2467C>A (p.Arg823Ser) c.2443C>A (p.Arg815Ser) c.2437C>A (p.Arg813Ser) c.2410C>A (p.Arg804Ser) c.2404C>A (p.Arg802Ser) c.2398C>A (p.Arg800Ser) c.2347C>A (p.Arg783Ser) c.2266C>A (p.Arg756Ser) c.2308-185C>A (n.2308-185C>A) c.2188C>A (p.Arg730Ser) c.2208+1204C>A (n.2208+1204C>A) c.1408C>A (p.Arg470Ser) n.2684C>A | gnomAD v4 |
17 | g.39724864C= | CA2259228033 | ERBB2 | c.2446C= (p.Arg816=) c.2356C= (p.Arg786=) c.1618C= (p.Arg540=) c.2401C= (p.Arg801=) c.*2236C= (n.*2236C=) c.552C= n.3580C= n.2770C= c.2584C= (p.Arg862=) c.2539C= (p.Arg847=) c.2494C= (p.Arg832=) c.2563C= (p.Arg855=) c.2548C= (p.Arg850=) c.2527C= (p.Arg843=) c.2521C= (p.Arg841=) c.2476C= (p.Arg826=) c.2467C= (p.Arg823=) c.2443C= (p.Arg815=) c.2437C= (p.Arg813=) c.2410C= (p.Arg804=) c.2404C= (p.Arg802=) c.2398C= (p.Arg800=) c.2347C= (p.Arg783=) c.2266C= (p.Arg756=) c.2308-185C= (n.2308-185C=) c.2188C= (p.Arg730=) c.2208+1204C= (n.2208+1204C=) c.1408C= (p.Arg470=) n.2684C= | |
17 | g.39724864C>G | CA399303581 | ERBB2 | c.2446C>G (p.Arg816Gly) c.2356C>G (p.Arg786Gly) c.1618C>G (p.Arg540Gly) c.2401C>G (p.Arg801Gly) c.*2236C>G (n.*2236C>G) c.552C>G n.3580C>G n.2770C>G c.2584C>G (p.Arg862Gly) c.2539C>G (p.Arg847Gly) c.2494C>G (p.Arg832Gly) c.2563C>G (p.Arg855Gly) c.2548C>G (p.Arg850Gly) c.2527C>G (p.Arg843Gly) c.2521C>G (p.Arg841Gly) c.2476C>G (p.Arg826Gly) c.2467C>G (p.Arg823Gly) c.2443C>G (p.Arg815Gly) c.2437C>G (p.Arg813Gly) c.2410C>G (p.Arg804Gly) c.2404C>G (p.Arg802Gly) c.2398C>G (p.Arg800Gly) c.2347C>G (p.Arg783Gly) c.2266C>G (p.Arg756Gly) c.2308-185C>G (n.2308-185C>G) c.2188C>G (p.Arg730Gly) c.2208+1204C>G (n.2208+1204C>G) c.1408C>G (p.Arg470Gly) n.2684C>G | dbSNP |
17 | g.39724864C>T | CA8534299 | ERBB2 | c.2446C>T (p.Arg816Cys) c.2356C>T (p.Arg786Cys) c.1618C>T (p.Arg540Cys) c.2401C>T (p.Arg801Cys) c.*2236C>T (n.*2236C>T) c.552C>T n.3580C>T n.2770C>T c.2584C>T (p.Arg862Cys) c.2539C>T (p.Arg847Cys) c.2494C>T (p.Arg832Cys) c.2563C>T (p.Arg855Cys) c.2548C>T (p.Arg850Cys) c.2527C>T (p.Arg843Cys) c.2521C>T (p.Arg841Cys) c.2476C>T (p.Arg826Cys) c.2467C>T (p.Arg823Cys) c.2443C>T (p.Arg815Cys) c.2437C>T (p.Arg813Cys) c.2410C>T (p.Arg804Cys) c.2404C>T (p.Arg802Cys) c.2398C>T (p.Arg800Cys) c.2347C>T (p.Arg783Cys) c.2266C>T (p.Arg756Cys) c.2308-185C>T (n.2308-185C>T) c.2188C>T (p.Arg730Cys) c.2208+1204C>T (n.2208+1204C>T) c.1408C>T (p.Arg470Cys) n.2684C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724865G>A | CA8534300 | ERBB2 | c.2447G>A (p.Arg816His) c.2357G>A (p.Arg786His) c.1619G>A (p.Arg540His) c.2402G>A (p.Arg801His) c.*2237G>A (n.*2237G>A) c.553G>A n.3581G>A n.2771G>A c.2585G>A (p.Arg862His) c.2540G>A (p.Arg847His) c.2495G>A (p.Arg832His) c.2564G>A (p.Arg855His) c.2549G>A (p.Arg850His) c.2528G>A (p.Arg843His) c.2522G>A (p.Arg841His) c.2477G>A (p.Arg826His) c.2468G>A (p.Arg823His) c.2444G>A (p.Arg815His) c.2438G>A (p.Arg813His) c.2411G>A (p.Arg804His) c.2405G>A (p.Arg802His) c.2399G>A (p.Arg800His) c.2348G>A (p.Arg783His) c.2267G>A (p.Arg756His) c.2308-184G>A (n.2308-184G>A) c.2189G>A (p.Arg730His) c.2208+1205G>A (n.2208+1205G>A) c.1409G>A (p.Arg470His) n.2685G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39724865G>C | CA399303591 | ERBB2 | c.2447G>C (p.Arg816Pro) c.2357G>C (p.Arg786Pro) c.1619G>C (p.Arg540Pro) c.2402G>C (p.Arg801Pro) c.*2237G>C (n.*2237G>C) c.553G>C n.3581G>C n.2771G>C c.2585G>C (p.Arg862Pro) c.2540G>C (p.Arg847Pro) c.2495G>C (p.Arg832Pro) c.2564G>C (p.Arg855Pro) c.2549G>C (p.Arg850Pro) c.2528G>C (p.Arg843Pro) c.2522G>C (p.Arg841Pro) c.2477G>C (p.Arg826Pro) c.2468G>C (p.Arg823Pro) c.2444G>C (p.Arg815Pro) c.2438G>C (p.Arg813Pro) c.2411G>C (p.Arg804Pro) c.2405G>C (p.Arg802Pro) c.2399G>C (p.Arg800Pro) c.2348G>C (p.Arg783Pro) c.2267G>C (p.Arg756Pro) c.2308-184G>C (n.2308-184G>C) c.2189G>C (p.Arg730Pro) c.2208+1205G>C (n.2208+1205G>C) c.1409G>C (p.Arg470Pro) n.2685G>C | dbSNP |
17 | g.39724865G= | CA2259228034 | ERBB2 | c.2447G= (p.Arg816=) c.2357G= (p.Arg786=) c.1619G= (p.Arg540=) c.2402G= (p.Arg801=) c.*2237G= (n.*2237G=) c.553G= n.3581G= n.2771G= c.2585G= (p.Arg862=) c.2540G= (p.Arg847=) c.2495G= (p.Arg832=) c.2564G= (p.Arg855=) c.2549G= (p.Arg850=) c.2528G= (p.Arg843=) c.2522G= (p.Arg841=) c.2477G= (p.Arg826=) c.2468G= (p.Arg823=) c.2444G= (p.Arg815=) c.2438G= (p.Arg813=) c.2411G= (p.Arg804=) c.2405G= (p.Arg802=) c.2399G= (p.Arg800=) c.2348G= (p.Arg783=) c.2267G= (p.Arg756=) c.2308-184G= (n.2308-184G=) c.2189G= (p.Arg730=) c.2208+1205G= (n.2208+1205G=) c.1409G= (p.Arg470=) n.2685G= | |
17 | g.39724865G>T | CA399303595 | ERBB2 | c.2447G>T (p.Arg816Leu) c.2357G>T (p.Arg786Leu) c.1619G>T (p.Arg540Leu) c.2402G>T (p.Arg801Leu) c.*2237G>T (n.*2237G>T) c.553G>T n.3581G>T n.2771G>T c.2585G>T (p.Arg862Leu) c.2540G>T (p.Arg847Leu) c.2495G>T (p.Arg832Leu) c.2564G>T (p.Arg855Leu) c.2549G>T (p.Arg850Leu) c.2528G>T (p.Arg843Leu) c.2522G>T (p.Arg841Leu) c.2477G>T (p.Arg826Leu) c.2468G>T (p.Arg823Leu) c.2444G>T (p.Arg815Leu) c.2438G>T (p.Arg813Leu) c.2411G>T (p.Arg804Leu) c.2405G>T (p.Arg802Leu) c.2399G>T (p.Arg800Leu) c.2348G>T (p.Arg783Leu) c.2267G>T (p.Arg756Leu) c.2308-184G>T (n.2308-184G>T) c.2189G>T (p.Arg730Leu) c.2208+1205G>T (n.2208+1205G>T) c.1409G>T (p.Arg470Leu) n.2685G>T | |
17 | g.39724866C>A | CA8534301 | ERBB2 | c.2448C>A (p.Arg816=) c.2358C>A (p.Arg786=) c.1620C>A (p.Arg540=) c.2403C>A (p.Arg801=) c.*2238C>A (n.*2238C>A) c.554C>A n.3582C>A n.2772C>A c.2586C>A (p.Arg862=) c.2541C>A (p.Arg847=) c.2496C>A (p.Arg832=) c.2565C>A (p.Arg855=) c.2550C>A (p.Arg850=) c.2529C>A (p.Arg843=) c.2523C>A (p.Arg841=) c.2478C>A (p.Arg826=) c.2469C>A (p.Arg823=) c.2445C>A (p.Arg815=) c.2439C>A (p.Arg813=) c.2412C>A (p.Arg804=) c.2406C>A (p.Arg802=) c.2400C>A (p.Arg800=) c.2349C>A (p.Arg783=) c.2268C>A (p.Arg756=) c.2308-183C>A (n.2308-183C>A) c.2190C>A (p.Arg730=) c.2208+1206C>A (n.2208+1206C>A) c.1410C>A (p.Arg470=) n.2686C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724866C= | CA2259228035 | ERBB2 | c.2448C= (p.Arg816=) c.2358C= (p.Arg786=) c.1620C= (p.Arg540=) c.2403C= (p.Arg801=) c.*2238C= (n.*2238C=) c.554C= n.3582C= n.2772C= c.2586C= (p.Arg862=) c.2541C= (p.Arg847=) c.2496C= (p.Arg832=) c.2565C= (p.Arg855=) c.2550C= (p.Arg850=) c.2529C= (p.Arg843=) c.2523C= (p.Arg841=) c.2478C= (p.Arg826=) c.2469C= (p.Arg823=) c.2445C= (p.Arg815=) c.2439C= (p.Arg813=) c.2412C= (p.Arg804=) c.2406C= (p.Arg802=) c.2400C= (p.Arg800=) c.2349C= (p.Arg783=) c.2268C= (p.Arg756=) c.2308-183C= (n.2308-183C=) c.2190C= (p.Arg730=) c.2208+1206C= (n.2208+1206C=) c.1410C= (p.Arg470=) n.2686C= | |
17 | g.39724866C>G | CA499670929 | ERBB2 | c.2448C>G (p.Arg816=) c.2358C>G (p.Arg786=) c.1620C>G (p.Arg540=) c.2403C>G (p.Arg801=) c.*2238C>G (n.*2238C>G) c.554C>G n.3582C>G n.2772C>G c.2586C>G (p.Arg862=) c.2541C>G (p.Arg847=) c.2496C>G (p.Arg832=) c.2565C>G (p.Arg855=) c.2550C>G (p.Arg850=) c.2529C>G (p.Arg843=) c.2523C>G (p.Arg841=) c.2478C>G (p.Arg826=) c.2469C>G (p.Arg823=) c.2445C>G (p.Arg815=) c.2439C>G (p.Arg813=) c.2412C>G (p.Arg804=) c.2406C>G (p.Arg802=) c.2400C>G (p.Arg800=) c.2349C>G (p.Arg783=) c.2268C>G (p.Arg756=) c.2308-183C>G (n.2308-183C>G) c.2190C>G (p.Arg730=) c.2208+1206C>G (n.2208+1206C>G) c.1410C>G (p.Arg470=) n.2686C>G | dbSNP |
17 | g.39724866C>T | CA499670930 | ERBB2 | c.2448C>T (p.Arg816=) c.2358C>T (p.Arg786=) c.1620C>T (p.Arg540=) c.2403C>T (p.Arg801=) c.*2238C>T (n.*2238C>T) c.554C>T n.3582C>T n.2772C>T c.2586C>T (p.Arg862=) c.2541C>T (p.Arg847=) c.2496C>T (p.Arg832=) c.2565C>T (p.Arg855=) c.2550C>T (p.Arg850=) c.2529C>T (p.Arg843=) c.2523C>T (p.Arg841=) c.2478C>T (p.Arg826=) c.2469C>T (p.Arg823=) c.2445C>T (p.Arg815=) c.2439C>T (p.Arg813=) c.2412C>T (p.Arg804=) c.2406C>T (p.Arg802=) c.2400C>T (p.Arg800=) c.2349C>T (p.Arg783=) c.2268C>T (p.Arg756=) c.2308-183C>T (n.2308-183C>T) c.2190C>T (p.Arg730=) c.2208+1206C>T (n.2208+1206C>T) c.1410C>T (p.Arg470=) n.2686C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724867C>A | CA399303603 | ERBB2 | c.2449C>A (p.Leu817Met) c.2359C>A (p.Leu787Met) c.1621C>A (p.Leu541Met) c.2404C>A (p.Leu802Met) c.*2239C>A (n.*2239C>A) c.555C>A n.3583C>A n.2773C>A c.2587C>A (p.Leu863Met) c.2542C>A (p.Leu848Met) c.2497C>A (p.Leu833Met) c.2566C>A (p.Leu856Met) c.2551C>A (p.Leu851Met) c.2530C>A (p.Leu844Met) c.2524C>A (p.Leu842Met) c.2479C>A (p.Leu827Met) c.2470C>A (p.Leu824Met) c.2446C>A (p.Leu816Met) c.2440C>A (p.Leu814Met) c.2413C>A (p.Leu805Met) c.2407C>A (p.Leu803Met) c.2401C>A (p.Leu801Met) c.2350C>A (p.Leu784Met) c.2269C>A (p.Leu757Met) c.2308-182C>A (n.2308-182C>A) c.2191C>A (p.Leu731Met) c.2208+1207C>A (n.2208+1207C>A) c.1411C>A (p.Leu471Met) n.2687C>A | dbSNP |
17 | g.39724867C>G | CA399303600 | ERBB2 | c.2449C>G (p.Leu817Val) c.2359C>G (p.Leu787Val) c.1621C>G (p.Leu541Val) c.2404C>G (p.Leu802Val) c.*2239C>G (n.*2239C>G) c.555C>G n.3583C>G n.2773C>G c.2587C>G (p.Leu863Val) c.2542C>G (p.Leu848Val) c.2497C>G (p.Leu833Val) c.2566C>G (p.Leu856Val) c.2551C>G (p.Leu851Val) c.2530C>G (p.Leu844Val) c.2524C>G (p.Leu842Val) c.2479C>G (p.Leu827Val) c.2470C>G (p.Leu824Val) c.2446C>G (p.Leu816Val) c.2440C>G (p.Leu814Val) c.2413C>G (p.Leu805Val) c.2407C>G (p.Leu803Val) c.2401C>G (p.Leu801Val) c.2350C>G (p.Leu784Val) c.2269C>G (p.Leu757Val) c.2308-182C>G (n.2308-182C>G) c.2191C>G (p.Leu731Val) c.2208+1207C>G (n.2208+1207C>G) c.1411C>G (p.Leu471Val) n.2687C>G | dbSNP |
17 | g.39724867C>T | CA499670931 | ERBB2 | c.2449C>T (p.Leu817=) c.2359C>T (p.Leu787=) c.1621C>T (p.Leu541=) c.2404C>T (p.Leu802=) c.*2239C>T (n.*2239C>T) c.555C>T n.3583C>T n.2773C>T c.2587C>T (p.Leu863=) c.2542C>T (p.Leu848=) c.2497C>T (p.Leu833=) c.2566C>T (p.Leu856=) c.2551C>T (p.Leu851=) c.2530C>T (p.Leu844=) c.2524C>T (p.Leu842=) c.2479C>T (p.Leu827=) c.2470C>T (p.Leu824=) c.2446C>T (p.Leu816=) c.2440C>T (p.Leu814=) c.2413C>T (p.Leu805=) c.2407C>T (p.Leu803=) c.2401C>T (p.Leu801=) c.2350C>T (p.Leu784=) c.2269C>T (p.Leu757=) c.2308-182C>T (n.2308-182C>T) c.2191C>T (p.Leu731=) c.2208+1207C>T (n.2208+1207C>T) c.1411C>T (p.Leu471=) n.2687C>T | dbSNP |
17 | g.39724868T>A | CA399303606 | ERBB2 | c.2450T>A (p.Leu817Gln) c.2360T>A (p.Leu787Gln) c.1622T>A (p.Leu541Gln) c.2405T>A (p.Leu802Gln) c.*2240T>A (n.*2240T>A) c.556T>A n.3584T>A n.2774T>A c.2588T>A (p.Leu863Gln) c.2543T>A (p.Leu848Gln) c.2498T>A (p.Leu833Gln) c.2567T>A (p.Leu856Gln) c.2552T>A (p.Leu851Gln) c.2531T>A (p.Leu844Gln) c.2525T>A (p.Leu842Gln) c.2480T>A (p.Leu827Gln) c.2471T>A (p.Leu824Gln) c.2447T>A (p.Leu816Gln) c.2441T>A (p.Leu814Gln) c.2414T>A (p.Leu805Gln) c.2408T>A (p.Leu803Gln) c.2402T>A (p.Leu801Gln) c.2351T>A (p.Leu784Gln) c.2270T>A (p.Leu757Gln) c.2308-181T>A (n.2308-181T>A) c.2192T>A (p.Leu731Gln) c.2208+1208T>A (n.2208+1208T>A) c.1412T>A (p.Leu471Gln) n.2688T>A | |
17 | g.39724868T>C | CA399303610 | ERBB2 | c.2450T>C (p.Leu817Pro) c.2360T>C (p.Leu787Pro) c.1622T>C (p.Leu541Pro) c.2405T>C (p.Leu802Pro) c.*2240T>C (n.*2240T>C) c.556T>C n.3584T>C n.2774T>C c.2588T>C (p.Leu863Pro) c.2543T>C (p.Leu848Pro) c.2498T>C (p.Leu833Pro) c.2567T>C (p.Leu856Pro) c.2552T>C (p.Leu851Pro) c.2531T>C (p.Leu844Pro) c.2525T>C (p.Leu842Pro) c.2480T>C (p.Leu827Pro) c.2471T>C (p.Leu824Pro) c.2447T>C (p.Leu816Pro) c.2441T>C (p.Leu814Pro) c.2414T>C (p.Leu805Pro) c.2408T>C (p.Leu803Pro) c.2402T>C (p.Leu801Pro) c.2351T>C (p.Leu784Pro) c.2270T>C (p.Leu757Pro) c.2308-181T>C (n.2308-181T>C) c.2192T>C (p.Leu731Pro) c.2208+1208T>C (n.2208+1208T>C) c.1412T>C (p.Leu471Pro) n.2688T>C | |
17 | g.39724868T>G | CA399303615 | ERBB2 | c.2450T>G (p.Leu817Arg) c.2360T>G (p.Leu787Arg) c.1622T>G (p.Leu541Arg) c.2405T>G (p.Leu802Arg) c.*2240T>G (n.*2240T>G) c.556T>G n.3584T>G n.2774T>G c.2588T>G (p.Leu863Arg) c.2543T>G (p.Leu848Arg) c.2498T>G (p.Leu833Arg) c.2567T>G (p.Leu856Arg) c.2552T>G (p.Leu851Arg) c.2531T>G (p.Leu844Arg) c.2525T>G (p.Leu842Arg) c.2480T>G (p.Leu827Arg) c.2471T>G (p.Leu824Arg) c.2447T>G (p.Leu816Arg) c.2441T>G (p.Leu814Arg) c.2414T>G (p.Leu805Arg) c.2408T>G (p.Leu803Arg) c.2402T>G (p.Leu801Arg) c.2351T>G (p.Leu784Arg) c.2270T>G (p.Leu757Arg) c.2308-181T>G (n.2308-181T>G) c.2192T>G (p.Leu731Arg) c.2208+1208T>G (n.2208+1208T>G) c.1412T>G (p.Leu471Arg) n.2688T>G | |
17 | g.39724869G>A | CA8534303 | ERBB2 | c.2451G>A (p.Leu817=) c.2361G>A (p.Leu787=) c.1623G>A (p.Leu541=) c.2406G>A (p.Leu802=) c.*2241G>A (n.*2241G>A) c.557G>A n.3585G>A n.2775G>A c.2589G>A (p.Leu863=) c.2544G>A (p.Leu848=) c.2499G>A (p.Leu833=) c.2568G>A (p.Leu856=) c.2553G>A (p.Leu851=) c.2532G>A (p.Leu844=) c.2526G>A (p.Leu842=) c.2481G>A (p.Leu827=) c.2472G>A (p.Leu824=) c.2448G>A (p.Leu816=) c.2442G>A (p.Leu814=) c.2415G>A (p.Leu805=) c.2409G>A (p.Leu803=) c.2403G>A (p.Leu801=) c.2352G>A (p.Leu784=) c.2271G>A (p.Leu757=) c.2308-180G>A (n.2308-180G>A) c.2193G>A (p.Leu731=) c.2208+1209G>A (n.2208+1209G>A) c.1413G>A (p.Leu471=) n.2689G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724869G>C | CA499670932 | ERBB2 | c.2451G>C (p.Leu817=) c.2361G>C (p.Leu787=) c.1623G>C (p.Leu541=) c.2406G>C (p.Leu802=) c.*2241G>C (n.*2241G>C) c.557G>C n.3585G>C n.2775G>C c.2589G>C (p.Leu863=) c.2544G>C (p.Leu848=) c.2499G>C (p.Leu833=) c.2568G>C (p.Leu856=) c.2553G>C (p.Leu851=) c.2532G>C (p.Leu844=) c.2526G>C (p.Leu842=) c.2481G>C (p.Leu827=) c.2472G>C (p.Leu824=) c.2448G>C (p.Leu816=) c.2442G>C (p.Leu814=) c.2415G>C (p.Leu805=) c.2409G>C (p.Leu803=) c.2403G>C (p.Leu801=) c.2352G>C (p.Leu784=) c.2271G>C (p.Leu757=) c.2308-180G>C (n.2308-180G>C) c.2193G>C (p.Leu731=) c.2208+1209G>C (n.2208+1209G>C) c.1413G>C (p.Leu471=) n.2689G>C | dbSNP |
17 | g.39724869G= | CA2259228036 | ERBB2 | c.2451G= (p.Leu817=) c.2361G= (p.Leu787=) c.1623G= (p.Leu541=) c.2406G= (p.Leu802=) c.*2241G= (n.*2241G=) c.557G= n.3585G= n.2775G= c.2589G= (p.Leu863=) c.2544G= (p.Leu848=) c.2499G= (p.Leu833=) c.2568G= (p.Leu856=) c.2553G= (p.Leu851=) c.2532G= (p.Leu844=) c.2526G= (p.Leu842=) c.2481G= (p.Leu827=) c.2472G= (p.Leu824=) c.2448G= (p.Leu816=) c.2442G= (p.Leu814=) c.2415G= (p.Leu805=) c.2409G= (p.Leu803=) c.2403G= (p.Leu801=) c.2352G= (p.Leu784=) c.2271G= (p.Leu757=) c.2308-180G= (n.2308-180G=) c.2193G= (p.Leu731=) c.2208+1209G= (n.2208+1209G=) c.1413G= (p.Leu471=) n.2689G= | |
17 | g.39724869G>T | CA8534302 | ERBB2 | c.2451G>T (p.Leu817=) c.2361G>T (p.Leu787=) c.1623G>T (p.Leu541=) c.2406G>T (p.Leu802=) c.*2241G>T (n.*2241G>T) c.557G>T n.3585G>T n.2775G>T c.2589G>T (p.Leu863=) c.2544G>T (p.Leu848=) c.2499G>T (p.Leu833=) c.2568G>T (p.Leu856=) c.2553G>T (p.Leu851=) c.2532G>T (p.Leu844=) c.2526G>T (p.Leu842=) c.2481G>T (p.Leu827=) c.2472G>T (p.Leu824=) c.2448G>T (p.Leu816=) c.2442G>T (p.Leu814=) c.2415G>T (p.Leu805=) c.2409G>T (p.Leu803=) c.2403G>T (p.Leu801=) c.2352G>T (p.Leu784=) c.2271G>T (p.Leu757=) c.2308-180G>T (n.2308-180G>T) c.2193G>T (p.Leu731=) c.2208+1209G>T (n.2208+1209G>T) c.1413G>T (p.Leu471=) n.2689G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724870G>A | CA399303631 | ERBB2 | c.2452G>A (p.Gly818Ser) c.2362G>A (p.Gly788Ser) c.1624G>A (p.Gly542Ser) c.2407G>A (p.Gly803Ser) c.*2242G>A (n.*2242G>A) c.558G>A n.3586G>A n.2776G>A c.2590G>A (p.Gly864Ser) c.2545G>A (p.Gly849Ser) c.2500G>A (p.Gly834Ser) c.2569G>A (p.Gly857Ser) c.2554G>A (p.Gly852Ser) c.2533G>A (p.Gly845Ser) c.2527G>A (p.Gly843Ser) c.2482G>A (p.Gly828Ser) c.2473G>A (p.Gly825Ser) c.2449G>A (p.Gly817Ser) c.2443G>A (p.Gly815Ser) c.2416G>A (p.Gly806Ser) c.2410G>A (p.Gly804Ser) c.2404G>A (p.Gly802Ser) c.2353G>A (p.Gly785Ser) c.2272G>A (p.Gly758Ser) c.2308-179G>A (n.2308-179G>A) c.2194G>A (p.Gly732Ser) c.2208+1210G>A (n.2208+1210G>A) c.1414G>A (p.Gly472Ser) n.2690G>A | dbSNP |
17 | g.39724870G>C | CA399303628 | ERBB2 | c.2452G>C (p.Gly818Arg) c.2362G>C (p.Gly788Arg) c.1624G>C (p.Gly542Arg) c.2407G>C (p.Gly803Arg) c.*2242G>C (n.*2242G>C) c.558G>C n.3586G>C n.2776G>C c.2590G>C (p.Gly864Arg) c.2545G>C (p.Gly849Arg) c.2500G>C (p.Gly834Arg) c.2569G>C (p.Gly857Arg) c.2554G>C (p.Gly852Arg) c.2533G>C (p.Gly845Arg) c.2527G>C (p.Gly843Arg) c.2482G>C (p.Gly828Arg) c.2473G>C (p.Gly825Arg) c.2449G>C (p.Gly817Arg) c.2443G>C (p.Gly815Arg) c.2416G>C (p.Gly806Arg) c.2410G>C (p.Gly804Arg) c.2404G>C (p.Gly802Arg) c.2353G>C (p.Gly785Arg) c.2272G>C (p.Gly758Arg) c.2308-179G>C (n.2308-179G>C) c.2194G>C (p.Gly732Arg) c.2208+1210G>C (n.2208+1210G>C) c.1414G>C (p.Gly472Arg) n.2690G>C | dbSNP |
17 | g.39724870G>T | CA399303624 | ERBB2 | c.2452G>T (p.Gly818Cys) c.2362G>T (p.Gly788Cys) c.1624G>T (p.Gly542Cys) c.2407G>T (p.Gly803Cys) c.*2242G>T (n.*2242G>T) c.558G>T n.3586G>T n.2776G>T c.2590G>T (p.Gly864Cys) c.2545G>T (p.Gly849Cys) c.2500G>T (p.Gly834Cys) c.2569G>T (p.Gly857Cys) c.2554G>T (p.Gly852Cys) c.2533G>T (p.Gly845Cys) c.2527G>T (p.Gly843Cys) c.2482G>T (p.Gly828Cys) c.2473G>T (p.Gly825Cys) c.2449G>T (p.Gly817Cys) c.2443G>T (p.Gly815Cys) c.2416G>T (p.Gly806Cys) c.2410G>T (p.Gly804Cys) c.2404G>T (p.Gly802Cys) c.2353G>T (p.Gly785Cys) c.2272G>T (p.Gly758Cys) c.2308-179G>T (n.2308-179G>T) c.2194G>T (p.Gly732Cys) c.2208+1210G>T (n.2208+1210G>T) c.1414G>T (p.Gly472Cys) n.2690G>T | dbSNP |
17 | g.39724871G>A | CA399303634 | ERBB2 | c.2453G>A (p.Gly818Asp) c.2363G>A (p.Gly788Asp) c.1625G>A (p.Gly542Asp) c.2408G>A (p.Gly803Asp) c.*2243G>A (n.*2243G>A) c.559G>A n.3587G>A n.2777G>A c.2591G>A (p.Gly864Asp) c.2546G>A (p.Gly849Asp) c.2501G>A (p.Gly834Asp) c.2570G>A (p.Gly857Asp) c.2555G>A (p.Gly852Asp) c.2534G>A (p.Gly845Asp) c.2528G>A (p.Gly843Asp) c.2483G>A (p.Gly828Asp) c.2474G>A (p.Gly825Asp) c.2450G>A (p.Gly817Asp) c.2444G>A (p.Gly815Asp) c.2417G>A (p.Gly806Asp) c.2411G>A (p.Gly804Asp) c.2405G>A (p.Gly802Asp) c.2354G>A (p.Gly785Asp) c.2273G>A (p.Gly758Asp) c.2308-178G>A (n.2308-178G>A) c.2195G>A (p.Gly732Asp) c.2208+1211G>A (n.2208+1211G>A) c.1415G>A (p.Gly472Asp) n.2691G>A | dbSNP gnomAD v4 |
17 | g.39724871G>C | CA399303638 | ERBB2 | c.2453G>C (p.Gly818Ala) c.2363G>C (p.Gly788Ala) c.1625G>C (p.Gly542Ala) c.2408G>C (p.Gly803Ala) c.*2243G>C (n.*2243G>C) c.559G>C n.3587G>C n.2777G>C c.2591G>C (p.Gly864Ala) c.2546G>C (p.Gly849Ala) c.2501G>C (p.Gly834Ala) c.2570G>C (p.Gly857Ala) c.2555G>C (p.Gly852Ala) c.2534G>C (p.Gly845Ala) c.2528G>C (p.Gly843Ala) c.2483G>C (p.Gly828Ala) c.2474G>C (p.Gly825Ala) c.2450G>C (p.Gly817Ala) c.2444G>C (p.Gly815Ala) c.2417G>C (p.Gly806Ala) c.2411G>C (p.Gly804Ala) c.2405G>C (p.Gly802Ala) c.2354G>C (p.Gly785Ala) c.2273G>C (p.Gly758Ala) c.2308-178G>C (n.2308-178G>C) c.2195G>C (p.Gly732Ala) c.2208+1211G>C (n.2208+1211G>C) c.1415G>C (p.Gly472Ala) n.2691G>C | dbSNP gnomAD v4 |
17 | g.39724871G= | CA2259228037 | ERBB2 | c.2453G= (p.Gly818=) c.2363G= (p.Gly788=) c.1625G= (p.Gly542=) c.2408G= (p.Gly803=) c.*2243G= (n.*2243G=) c.559G= n.3587G= n.2777G= c.2591G= (p.Gly864=) c.2546G= (p.Gly849=) c.2501G= (p.Gly834=) c.2570G= (p.Gly857=) c.2555G= (p.Gly852=) c.2534G= (p.Gly845=) c.2528G= (p.Gly843=) c.2483G= (p.Gly828=) c.2474G= (p.Gly825=) c.2450G= (p.Gly817=) c.2444G= (p.Gly815=) c.2417G= (p.Gly806=) c.2411G= (p.Gly804=) c.2405G= (p.Gly802=) c.2354G= (p.Gly785=) c.2273G= (p.Gly758=) c.2308-178G= (n.2308-178G=) c.2195G= (p.Gly732=) c.2208+1211G= (n.2208+1211G=) c.1415G= (p.Gly472=) n.2691G= | |
17 | g.39724871G>T | CA399303640 | ERBB2 | c.2453G>T (p.Gly818Val) c.2363G>T (p.Gly788Val) c.1625G>T (p.Gly542Val) c.2408G>T (p.Gly803Val) c.*2243G>T (n.*2243G>T) c.559G>T n.3587G>T n.2777G>T c.2591G>T (p.Gly864Val) c.2546G>T (p.Gly849Val) c.2501G>T (p.Gly834Val) c.2570G>T (p.Gly857Val) c.2555G>T (p.Gly852Val) c.2534G>T (p.Gly845Val) c.2528G>T (p.Gly843Val) c.2483G>T (p.Gly828Val) c.2474G>T (p.Gly825Val) c.2450G>T (p.Gly817Val) c.2444G>T (p.Gly815Val) c.2417G>T (p.Gly806Val) c.2411G>T (p.Gly804Val) c.2405G>T (p.Gly802Val) c.2354G>T (p.Gly785Val) c.2273G>T (p.Gly758Val) c.2308-178G>T (n.2308-178G>T) c.2195G>T (p.Gly732Val) c.2208+1211G>T (n.2208+1211G>T) c.1415G>T (p.Gly472Val) n.2691G>T | |
17 | g.39724872C>A | CA499670935 | ERBB2 | c.2454C>A (p.Gly818=) c.2364C>A (p.Gly788=) c.1626C>A (p.Gly542=) c.2409C>A (p.Gly803=) c.*2244C>A (n.*2244C>A) c.560C>A n.3588C>A n.2778C>A c.2592C>A (p.Gly864=) c.2547C>A (p.Gly849=) c.2502C>A (p.Gly834=) c.2571C>A (p.Gly857=) c.2556C>A (p.Gly852=) c.2535C>A (p.Gly845=) c.2529C>A (p.Gly843=) c.2484C>A (p.Gly828=) c.2475C>A (p.Gly825=) c.2451C>A (p.Gly817=) c.2445C>A (p.Gly815=) c.2418C>A (p.Gly806=) c.2412C>A (p.Gly804=) c.2406C>A (p.Gly802=) c.2355C>A (p.Gly785=) c.2274C>A (p.Gly758=) c.2308-177C>A (n.2308-177C>A) c.2196C>A (p.Gly732=) c.2208+1212C>A (n.2208+1212C>A) c.1416C>A (p.Gly472=) n.2692C>A | dbSNP |
17 | g.39724872C>G | CA499670934 | ERBB2 | c.2454C>G (p.Gly818=) c.2364C>G (p.Gly788=) c.1626C>G (p.Gly542=) c.2409C>G (p.Gly803=) c.*2244C>G (n.*2244C>G) c.560C>G n.3588C>G n.2778C>G c.2592C>G (p.Gly864=) c.2547C>G (p.Gly849=) c.2502C>G (p.Gly834=) c.2571C>G (p.Gly857=) c.2556C>G (p.Gly852=) c.2535C>G (p.Gly845=) c.2529C>G (p.Gly843=) c.2484C>G (p.Gly828=) c.2475C>G (p.Gly825=) c.2451C>G (p.Gly817=) c.2445C>G (p.Gly815=) c.2418C>G (p.Gly806=) c.2412C>G (p.Gly804=) c.2406C>G (p.Gly802=) c.2355C>G (p.Gly785=) c.2274C>G (p.Gly758=) c.2308-177C>G (n.2308-177C>G) c.2196C>G (p.Gly732=) c.2208+1212C>G (n.2208+1212C>G) c.1416C>G (p.Gly472=) n.2692C>G | dbSNP |
17 | g.39724872C>T | CA499670933 | ERBB2 | c.2454C>T (p.Gly818=) c.2364C>T (p.Gly788=) c.1626C>T (p.Gly542=) c.2409C>T (p.Gly803=) c.*2244C>T (n.*2244C>T) c.560C>T n.3588C>T n.2778C>T c.2592C>T (p.Gly864=) c.2547C>T (p.Gly849=) c.2502C>T (p.Gly834=) c.2571C>T (p.Gly857=) c.2556C>T (p.Gly852=) c.2535C>T (p.Gly845=) c.2529C>T (p.Gly843=) c.2484C>T (p.Gly828=) c.2475C>T (p.Gly825=) c.2451C>T (p.Gly817=) c.2445C>T (p.Gly815=) c.2418C>T (p.Gly806=) c.2412C>T (p.Gly804=) c.2406C>T (p.Gly802=) c.2355C>T (p.Gly785=) c.2274C>T (p.Gly758=) c.2308-177C>T (n.2308-177C>T) c.2196C>T (p.Gly732=) c.2208+1212C>T (n.2208+1212C>T) c.1416C>T (p.Gly472=) n.2692C>T | dbSNP gnomAD v4 |
17 | g.39724874_39724883del | CA2576254700 | ERBB2 | c.2456_2465del (p.Ser819CysfsTer2) c.2366_2375del (p.Ser789CysfsTer2) c.1628_1637del (p.Ser543CysfsTer2) c.2411_2420del (p.Ser804CysfsTer2) c.*2246_*2255del (n.*2246_*2255del) c.562_571del n.3590_3599del n.2780_2789del c.2594_2603del (p.Ser865CysfsTer2) c.2549_2558del (p.Ser850CysfsTer2) c.2504_2513del (p.Ser835CysfsTer2) c.2573_2582del (p.Ser858CysfsTer2) c.2558_2567del (p.Ser853CysfsTer2) c.2537_2546del (p.Ser846CysfsTer2) c.2531_2540del (p.Ser844CysfsTer2) c.2486_2495del (p.Ser829CysfsTer2) c.2477_2486del (p.Ser826CysfsTer2) c.2453_2462del (p.Ser818CysfsTer2) c.2447_2456del (p.Ser816CysfsTer2) c.2420_2429del (p.Ser807CysfsTer2) c.2414_2423del (p.Ser805CysfsTer2) c.2408_2417del (p.Ser803CysfsTer2) c.2357_2366del (p.Ser786CysfsTer2) c.2276_2285del (p.Ser759CysfsTer2) c.2308-175_2308-166del (n.2308-175_2308-166del) c.2198_2207del (p.Ser733CysfsTer2) c.2208+1214_2208+1223del (n.2208+1214_2208+1223del) c.1418_1427del (p.Ser473CysfsTer2) n.2694_2703del | |
17 | g.39724873T>A | CA399303645 | ERBB2 | c.2455T>A (p.Ser819Thr) c.2365T>A (p.Ser789Thr) c.1627T>A (p.Ser543Thr) c.2410T>A (p.Ser804Thr) c.*2245T>A (n.*2245T>A) c.561T>A n.3589T>A n.2779T>A c.2593T>A (p.Ser865Thr) c.2548T>A (p.Ser850Thr) c.2503T>A (p.Ser835Thr) c.2572T>A (p.Ser858Thr) c.2557T>A (p.Ser853Thr) c.2536T>A (p.Ser846Thr) c.2530T>A (p.Ser844Thr) c.2485T>A (p.Ser829Thr) c.2476T>A (p.Ser826Thr) c.2452T>A (p.Ser818Thr) c.2446T>A (p.Ser816Thr) c.2419T>A (p.Ser807Thr) c.2413T>A (p.Ser805Thr) c.2407T>A (p.Ser803Thr) c.2356T>A (p.Ser786Thr) c.2275T>A (p.Ser759Thr) c.2308-176T>A (n.2308-176T>A) c.2197T>A (p.Ser733Thr) c.2208+1213T>A (n.2208+1213T>A) c.1417T>A (p.Ser473Thr) n.2693T>A | |
17 | g.39724873T>C | CA399303649 | ERBB2 | c.2455T>C (p.Ser819Pro) c.2365T>C (p.Ser789Pro) c.1627T>C (p.Ser543Pro) c.2410T>C (p.Ser804Pro) c.*2245T>C (n.*2245T>C) c.561T>C n.3589T>C n.2779T>C c.2593T>C (p.Ser865Pro) c.2548T>C (p.Ser850Pro) c.2503T>C (p.Ser835Pro) c.2572T>C (p.Ser858Pro) c.2557T>C (p.Ser853Pro) c.2536T>C (p.Ser846Pro) c.2530T>C (p.Ser844Pro) c.2485T>C (p.Ser829Pro) c.2476T>C (p.Ser826Pro) c.2452T>C (p.Ser818Pro) c.2446T>C (p.Ser816Pro) c.2419T>C (p.Ser807Pro) c.2413T>C (p.Ser805Pro) c.2407T>C (p.Ser803Pro) c.2356T>C (p.Ser786Pro) c.2275T>C (p.Ser759Pro) c.2308-176T>C (n.2308-176T>C) c.2197T>C (p.Ser733Pro) c.2208+1213T>C (n.2208+1213T>C) c.1417T>C (p.Ser473Pro) n.2693T>C | |
17 | g.39724873T>G | CA399303652 | ERBB2 | c.2455T>G (p.Ser819Ala) c.2365T>G (p.Ser789Ala) c.1627T>G (p.Ser543Ala) c.2410T>G (p.Ser804Ala) c.*2245T>G (n.*2245T>G) c.561T>G n.3589T>G n.2779T>G c.2593T>G (p.Ser865Ala) c.2548T>G (p.Ser850Ala) c.2503T>G (p.Ser835Ala) c.2572T>G (p.Ser858Ala) c.2557T>G (p.Ser853Ala) c.2536T>G (p.Ser846Ala) c.2530T>G (p.Ser844Ala) c.2485T>G (p.Ser829Ala) c.2476T>G (p.Ser826Ala) c.2452T>G (p.Ser818Ala) c.2446T>G (p.Ser816Ala) c.2419T>G (p.Ser807Ala) c.2413T>G (p.Ser805Ala) c.2407T>G (p.Ser803Ala) c.2356T>G (p.Ser786Ala) c.2275T>G (p.Ser759Ala) c.2308-176T>G (n.2308-176T>G) c.2197T>G (p.Ser733Ala) c.2208+1213T>G (n.2208+1213T>G) c.1417T>G (p.Ser473Ala) n.2693T>G | |
17 | g.39724873_39724874insG | CA2838197171 | ERBB2 | c.2455_2456insG (p.Ser819CysfsTer?) c.2365_2366insG (p.Ser789CysfsTer?) c.1627_1628insG (p.Ser543CysfsTer?) c.2410_2411insG (p.Ser804CysfsTer?) c.*2245_*2246insG (n.*2245_*2246insG) c.561_562insG n.3589_3590insG n.2779_2780insG c.2593_2594insG (p.Ser865CysfsTer?) c.2548_2549insG (p.Ser850CysfsTer?) c.2503_2504insG (p.Ser835CysfsTer?) c.2572_2573insG (p.Ser858CysfsTer?) c.2557_2558insG (p.Ser853CysfsTer?) c.2536_2537insG (p.Ser846CysfsTer?) c.2530_2531insG (p.Ser844CysfsTer?) c.2485_2486insG (p.Ser829CysfsTer?) c.2476_2477insG (p.Ser826CysfsTer?) c.2452_2453insG (p.Ser818CysfsTer?) c.2446_2447insG (p.Ser816CysfsTer?) c.2419_2420insG (p.Ser807CysfsTer?) c.2413_2414insG (p.Ser805CysfsTer?) c.2407_2408insG (p.Ser803CysfsTer?) c.2356_2357insG (p.Ser786CysfsTer?) c.2275_2276insG (p.Ser759CysfsTer?) c.2308-176_2308-175insG (n.2308-176_2308-175insG) c.2197_2198insG (p.Ser733CysfsTer?) c.2208+1213_2208+1214insG (n.2208+1213_2208+1214insG) c.1417_1418insG (p.Ser473CysfsTer?) n.2693_2694insG | |
17 | g.39724874C>A | CA399303656 | ERBB2 | c.2456C>A (p.Ser819Tyr) c.2366C>A (p.Ser789Tyr) c.1628C>A (p.Ser543Tyr) c.2411C>A (p.Ser804Tyr) c.*2246C>A (n.*2246C>A) c.562C>A n.3590C>A n.2780C>A c.2594C>A (p.Ser865Tyr) c.2549C>A (p.Ser850Tyr) c.2504C>A (p.Ser835Tyr) c.2573C>A (p.Ser858Tyr) c.2558C>A (p.Ser853Tyr) c.2537C>A (p.Ser846Tyr) c.2531C>A (p.Ser844Tyr) c.2486C>A (p.Ser829Tyr) c.2477C>A (p.Ser826Tyr) c.2453C>A (p.Ser818Tyr) c.2447C>A (p.Ser816Tyr) c.2420C>A (p.Ser807Tyr) c.2414C>A (p.Ser805Tyr) c.2408C>A (p.Ser803Tyr) c.2357C>A (p.Ser786Tyr) c.2276C>A (p.Ser759Tyr) c.2308-175C>A (n.2308-175C>A) c.2198C>A (p.Ser733Tyr) c.2208+1214C>A (n.2208+1214C>A) c.1418C>A (p.Ser473Tyr) n.2694C>A | dbSNP |
17 | g.39724874C= | CA2259228038 | ERBB2 | c.2456C= (p.Ser819=) c.2366C= (p.Ser789=) c.1628C= (p.Ser543=) c.2411C= (p.Ser804=) c.*2246C= (n.*2246C=) c.562C= n.3590C= n.2780C= c.2594C= (p.Ser865=) c.2549C= (p.Ser850=) c.2504C= (p.Ser835=) c.2573C= (p.Ser858=) c.2558C= (p.Ser853=) c.2537C= (p.Ser846=) c.2531C= (p.Ser844=) c.2486C= (p.Ser829=) c.2477C= (p.Ser826=) c.2453C= (p.Ser818=) c.2447C= (p.Ser816=) c.2420C= (p.Ser807=) c.2414C= (p.Ser805=) c.2408C= (p.Ser803=) c.2357C= (p.Ser786=) c.2276C= (p.Ser759=) c.2308-175C= (n.2308-175C=) c.2198C= (p.Ser733=) c.2208+1214C= (n.2208+1214C=) c.1418C= (p.Ser473=) n.2694C= | |
17 | g.39724874C>G | CA399303664 | ERBB2 | c.2456C>G (p.Ser819Cys) c.2366C>G (p.Ser789Cys) c.1628C>G (p.Ser543Cys) c.2411C>G (p.Ser804Cys) c.*2246C>G (n.*2246C>G) c.562C>G n.3590C>G n.2780C>G c.2594C>G (p.Ser865Cys) c.2549C>G (p.Ser850Cys) c.2504C>G (p.Ser835Cys) c.2573C>G (p.Ser858Cys) c.2558C>G (p.Ser853Cys) c.2537C>G (p.Ser846Cys) c.2531C>G (p.Ser844Cys) c.2486C>G (p.Ser829Cys) c.2477C>G (p.Ser826Cys) c.2453C>G (p.Ser818Cys) c.2447C>G (p.Ser816Cys) c.2420C>G (p.Ser807Cys) c.2414C>G (p.Ser805Cys) c.2408C>G (p.Ser803Cys) c.2357C>G (p.Ser786Cys) c.2276C>G (p.Ser759Cys) c.2308-175C>G (n.2308-175C>G) c.2198C>G (p.Ser733Cys) c.2208+1214C>G (n.2208+1214C>G) c.1418C>G (p.Ser473Cys) n.2694C>G | dbSNP |
17 | g.39724874C>T | CA399303660 | ERBB2 | c.2456C>T (p.Ser819Phe) c.2366C>T (p.Ser789Phe) c.1628C>T (p.Ser543Phe) c.2411C>T (p.Ser804Phe) c.*2246C>T (n.*2246C>T) c.562C>T n.3590C>T n.2780C>T c.2594C>T (p.Ser865Phe) c.2549C>T (p.Ser850Phe) c.2504C>T (p.Ser835Phe) c.2573C>T (p.Ser858Phe) c.2558C>T (p.Ser853Phe) c.2537C>T (p.Ser846Phe) c.2531C>T (p.Ser844Phe) c.2486C>T (p.Ser829Phe) c.2477C>T (p.Ser826Phe) c.2453C>T (p.Ser818Phe) c.2447C>T (p.Ser816Phe) c.2420C>T (p.Ser807Phe) c.2414C>T (p.Ser805Phe) c.2408C>T (p.Ser803Phe) c.2357C>T (p.Ser786Phe) c.2276C>T (p.Ser759Phe) c.2308-175C>T (n.2308-175C>T) c.2198C>T (p.Ser733Phe) c.2208+1214C>T (n.2208+1214C>T) c.1418C>T (p.Ser473Phe) n.2694C>T | dbSNP COSMIC COSMIC |
17 | g.39724874_39724875insTGAACTGGTGTATGCAGAACCGCGGACG | CA2841124911 | ERBB2 | c.2456_2457insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln820GlufsTer?) c.2366_2367insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln790GlufsTer?) c.1628_1629insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln544GlufsTer?) c.2411_2412insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln805GlufsTer?) c.*2246_*2247insTGAACTGGTGTATGCAGAACCGCGGACG (n.*2246_*2247insTGAACTGGTGTATGCAGAACCGCGGACG) c.562_563insTGAACTGGTGTATGCAGAACCGCGGACG n.3590_3591insTGAACTGGTGTATGCAGAACCGCGGACG n.2780_2781insTGAACTGGTGTATGCAGAACCGCGGACG c.2594_2595insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln866GlufsTer?) c.2549_2550insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln851GlufsTer?) c.2504_2505insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln836GlufsTer?) c.2573_2574insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln859GlufsTer?) c.2558_2559insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln854GlufsTer?) c.2537_2538insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln847GlufsTer?) c.2531_2532insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln845GlufsTer?) c.2486_2487insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln830GlufsTer?) c.2477_2478insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln827GlufsTer?) c.2453_2454insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln819GlufsTer?) c.2447_2448insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln817GlufsTer?) c.2420_2421insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln808GlufsTer?) c.2414_2415insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln806GlufsTer?) c.2408_2409insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln804GlufsTer?) c.2357_2358insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln787GlufsTer?) c.2276_2277insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln760GlufsTer?) c.2308-175_2308-174insTGAACTGGTGTATGCAGAACCGCGGACG (n.2308-175_2308-174insTGAACTGGTGTATGCAGAACCGCGGACG) c.2198_2199insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln734GlufsTer?) c.2208+1214_2208+1215insTGAACTGGTGTATGCAGAACCGCGGACG (n.2208+1214_2208+1215insTGAACTGGTGTATGCAGAACCGCGGACG) c.1418_1419insTGAACTGGTGTATGCAGAACCGCGGACG (p.Gln474GlufsTer?) n.2694_2695insTGAACTGGTGTATGCAGAACCGCGGACG | |
17 | g.39724875C>A | CA499670936 | ERBB2 | c.2457C>A (p.Ser819=) c.2367C>A (p.Ser789=) c.1629C>A (p.Ser543=) c.2412C>A (p.Ser804=) c.*2247C>A (n.*2247C>A) c.563C>A n.3591C>A n.2781C>A c.2595C>A (p.Ser865=) c.2550C>A (p.Ser850=) c.2505C>A (p.Ser835=) c.2574C>A (p.Ser858=) c.2559C>A (p.Ser853=) c.2538C>A (p.Ser846=) c.2532C>A (p.Ser844=) c.2487C>A (p.Ser829=) c.2478C>A (p.Ser826=) c.2454C>A (p.Ser818=) c.2448C>A (p.Ser816=) c.2421C>A (p.Ser807=) c.2415C>A (p.Ser805=) c.2409C>A (p.Ser803=) c.2358C>A (p.Ser786=) c.2277C>A (p.Ser759=) c.2308-174C>A (n.2308-174C>A) c.2199C>A (p.Ser733=) c.2208+1215C>A (n.2208+1215C>A) c.1419C>A (p.Ser473=) n.2695C>A | dbSNP |
17 | g.39724875C>G | CA499670938 | ERBB2 | c.2457C>G (p.Ser819=) c.2367C>G (p.Ser789=) c.1629C>G (p.Ser543=) c.2412C>G (p.Ser804=) c.*2247C>G (n.*2247C>G) c.563C>G n.3591C>G n.2781C>G c.2595C>G (p.Ser865=) c.2550C>G (p.Ser850=) c.2505C>G (p.Ser835=) c.2574C>G (p.Ser858=) c.2559C>G (p.Ser853=) c.2538C>G (p.Ser846=) c.2532C>G (p.Ser844=) c.2487C>G (p.Ser829=) c.2478C>G (p.Ser826=) c.2454C>G (p.Ser818=) c.2448C>G (p.Ser816=) c.2421C>G (p.Ser807=) c.2415C>G (p.Ser805=) c.2409C>G (p.Ser803=) c.2358C>G (p.Ser786=) c.2277C>G (p.Ser759=) c.2308-174C>G (n.2308-174C>G) c.2199C>G (p.Ser733=) c.2208+1215C>G (n.2208+1215C>G) c.1419C>G (p.Ser473=) n.2695C>G | dbSNP |
17 | g.39724875C>T | CA499670937 | ERBB2 | c.2457C>T (p.Ser819=) c.2367C>T (p.Ser789=) c.1629C>T (p.Ser543=) c.2412C>T (p.Ser804=) c.*2247C>T (n.*2247C>T) c.563C>T n.3591C>T n.2781C>T c.2595C>T (p.Ser865=) c.2550C>T (p.Ser850=) c.2505C>T (p.Ser835=) c.2574C>T (p.Ser858=) c.2559C>T (p.Ser853=) c.2538C>T (p.Ser846=) c.2532C>T (p.Ser844=) c.2487C>T (p.Ser829=) c.2478C>T (p.Ser826=) c.2454C>T (p.Ser818=) c.2448C>T (p.Ser816=) c.2421C>T (p.Ser807=) c.2415C>T (p.Ser805=) c.2409C>T (p.Ser803=) c.2358C>T (p.Ser786=) c.2277C>T (p.Ser759=) c.2308-174C>T (n.2308-174C>T) c.2199C>T (p.Ser733=) c.2208+1215C>T (n.2208+1215C>T) c.1419C>T (p.Ser473=) n.2695C>T | dbSNP COSMIC COSMIC |
17 | g.39724876C>A | CA399303669 | ERBB2 | c.2458C>A (p.Gln820Lys) c.2368C>A (p.Gln790Lys) c.1630C>A (p.Gln544Lys) c.2413C>A (p.Gln805Lys) c.*2248C>A (n.*2248C>A) c.564C>A n.3592C>A n.2782C>A c.2596C>A (p.Gln866Lys) c.2551C>A (p.Gln851Lys) c.2506C>A (p.Gln836Lys) c.2575C>A (p.Gln859Lys) c.2560C>A (p.Gln854Lys) c.2539C>A (p.Gln847Lys) c.2533C>A (p.Gln845Lys) c.2488C>A (p.Gln830Lys) c.2479C>A (p.Gln827Lys) c.2455C>A (p.Gln819Lys) c.2449C>A (p.Gln817Lys) c.2422C>A (p.Gln808Lys) c.2416C>A (p.Gln806Lys) c.2410C>A (p.Gln804Lys) c.2359C>A (p.Gln787Lys) c.2278C>A (p.Gln760Lys) c.2308-173C>A (n.2308-173C>A) c.2200C>A (p.Gln734Lys) c.2208+1216C>A (n.2208+1216C>A) c.1420C>A (p.Gln474Lys) n.2696C>A | dbSNP |
17 | g.39724876C>G | CA399303670 | ERBB2 | c.2458C>G (p.Gln820Glu) c.2368C>G (p.Gln790Glu) c.1630C>G (p.Gln544Glu) c.2413C>G (p.Gln805Glu) c.*2248C>G (n.*2248C>G) c.564C>G n.3592C>G n.2782C>G c.2596C>G (p.Gln866Glu) c.2551C>G (p.Gln851Glu) c.2506C>G (p.Gln836Glu) c.2575C>G (p.Gln859Glu) c.2560C>G (p.Gln854Glu) c.2539C>G (p.Gln847Glu) c.2533C>G (p.Gln845Glu) c.2488C>G (p.Gln830Glu) c.2479C>G (p.Gln827Glu) c.2455C>G (p.Gln819Glu) c.2449C>G (p.Gln817Glu) c.2422C>G (p.Gln808Glu) c.2416C>G (p.Gln806Glu) c.2410C>G (p.Gln804Glu) c.2359C>G (p.Gln787Glu) c.2278C>G (p.Gln760Glu) c.2308-173C>G (n.2308-173C>G) c.2200C>G (p.Gln734Glu) c.2208+1216C>G (n.2208+1216C>G) c.1420C>G (p.Gln474Glu) n.2696C>G | dbSNP |
17 | g.39724876C>T | CA399303675 | ERBB2 | c.2458C>T (p.Gln820Ter) c.2368C>T (p.Gln790Ter) c.1630C>T (p.Gln544Ter) c.2413C>T (p.Gln805Ter) c.*2248C>T (n.*2248C>T) c.564C>T n.3592C>T n.2782C>T c.2596C>T (p.Gln866Ter) c.2551C>T (p.Gln851Ter) c.2506C>T (p.Gln836Ter) c.2575C>T (p.Gln859Ter) c.2560C>T (p.Gln854Ter) c.2539C>T (p.Gln847Ter) c.2533C>T (p.Gln845Ter) c.2488C>T (p.Gln830Ter) c.2479C>T (p.Gln827Ter) c.2455C>T (p.Gln819Ter) c.2449C>T (p.Gln817Ter) c.2422C>T (p.Gln808Ter) c.2416C>T (p.Gln806Ter) c.2410C>T (p.Gln804Ter) c.2359C>T (p.Gln787Ter) c.2278C>T (p.Gln760Ter) c.2308-173C>T (n.2308-173C>T) c.2200C>T (p.Gln734Ter) c.2208+1216C>T (n.2208+1216C>T) c.1420C>T (p.Gln474Ter) n.2696C>T | dbSNP |
17 | g.39724877A= | CA2259228039 | ERBB2 | c.2459A= (p.Gln820=) c.2369A= (p.Gln790=) c.1631A= (p.Gln544=) c.2414A= (p.Gln805=) c.*2249A= (n.*2249A=) c.565A= n.3593A= n.2783A= c.2597A= (p.Gln866=) c.2552A= (p.Gln851=) c.2507A= (p.Gln836=) c.2576A= (p.Gln859=) c.2561A= (p.Gln854=) c.2540A= (p.Gln847=) c.2534A= (p.Gln845=) c.2489A= (p.Gln830=) c.2480A= (p.Gln827=) c.2456A= (p.Gln819=) c.2450A= (p.Gln817=) c.2423A= (p.Gln808=) c.2417A= (p.Gln806=) c.2411A= (p.Gln804=) c.2360A= (p.Gln787=) c.2279A= (p.Gln760=) c.2308-172A= (n.2308-172A=) c.2201A= (p.Gln734=) c.2208+1217A= (n.2208+1217A=) c.1421A= (p.Gln474=) n.2697A= | |
17 | g.39724877A>C | CA399303682 | ERBB2 | c.2459A>C (p.Gln820Pro) c.2369A>C (p.Gln790Pro) c.1631A>C (p.Gln544Pro) c.2414A>C (p.Gln805Pro) c.*2249A>C (n.*2249A>C) c.565A>C n.3593A>C n.2783A>C c.2597A>C (p.Gln866Pro) c.2552A>C (p.Gln851Pro) c.2507A>C (p.Gln836Pro) c.2576A>C (p.Gln859Pro) c.2561A>C (p.Gln854Pro) c.2540A>C (p.Gln847Pro) c.2534A>C (p.Gln845Pro) c.2489A>C (p.Gln830Pro) c.2480A>C (p.Gln827Pro) c.2456A>C (p.Gln819Pro) c.2450A>C (p.Gln817Pro) c.2423A>C (p.Gln808Pro) c.2417A>C (p.Gln806Pro) c.2411A>C (p.Gln804Pro) c.2360A>C (p.Gln787Pro) c.2279A>C (p.Gln760Pro) c.2308-172A>C (n.2308-172A>C) c.2201A>C (p.Gln734Pro) c.2208+1217A>C (n.2208+1217A>C) c.1421A>C (p.Gln474Pro) n.2697A>C | |
17 | g.39724877A>G | CA399303686 | ERBB2 | c.2459A>G (p.Gln820Arg) c.2369A>G (p.Gln790Arg) c.1631A>G (p.Gln544Arg) c.2414A>G (p.Gln805Arg) c.*2249A>G (n.*2249A>G) c.565A>G n.3593A>G n.2783A>G c.2597A>G (p.Gln866Arg) c.2552A>G (p.Gln851Arg) c.2507A>G (p.Gln836Arg) c.2576A>G (p.Gln859Arg) c.2561A>G (p.Gln854Arg) c.2540A>G (p.Gln847Arg) c.2534A>G (p.Gln845Arg) c.2489A>G (p.Gln830Arg) c.2480A>G (p.Gln827Arg) c.2456A>G (p.Gln819Arg) c.2450A>G (p.Gln817Arg) c.2423A>G (p.Gln808Arg) c.2417A>G (p.Gln806Arg) c.2411A>G (p.Gln804Arg) c.2360A>G (p.Gln787Arg) c.2279A>G (p.Gln760Arg) c.2308-172A>G (n.2308-172A>G) c.2201A>G (p.Gln734Arg) c.2208+1217A>G (n.2208+1217A>G) c.1421A>G (p.Gln474Arg) n.2697A>G | dbSNP gnomAD v2 |
17 | g.39724877A>T | CA399303690 | ERBB2 | c.2459A>T (p.Gln820Leu) c.2369A>T (p.Gln790Leu) c.1631A>T (p.Gln544Leu) c.2414A>T (p.Gln805Leu) c.*2249A>T (n.*2249A>T) c.565A>T n.3593A>T n.2783A>T c.2597A>T (p.Gln866Leu) c.2552A>T (p.Gln851Leu) c.2507A>T (p.Gln836Leu) c.2576A>T (p.Gln859Leu) c.2561A>T (p.Gln854Leu) c.2540A>T (p.Gln847Leu) c.2534A>T (p.Gln845Leu) c.2489A>T (p.Gln830Leu) c.2480A>T (p.Gln827Leu) c.2456A>T (p.Gln819Leu) c.2450A>T (p.Gln817Leu) c.2423A>T (p.Gln808Leu) c.2417A>T (p.Gln806Leu) c.2411A>T (p.Gln804Leu) c.2360A>T (p.Gln787Leu) c.2279A>T (p.Gln760Leu) c.2308-172A>T (n.2308-172A>T) c.2201A>T (p.Gln734Leu) c.2208+1217A>T (n.2208+1217A>T) c.1421A>T (p.Gln474Leu) n.2697A>T | dbSNP |
17 | g.39724878G>A | CA499670939 | ERBB2 | c.2460G>A (p.Gln820=) c.2370G>A (p.Gln790=) c.1632G>A (p.Gln544=) c.2415G>A (p.Gln805=) c.*2250G>A (n.*2250G>A) c.566G>A n.3594G>A n.2784G>A c.2598G>A (p.Gln866=) c.2553G>A (p.Gln851=) c.2508G>A (p.Gln836=) c.2577G>A (p.Gln859=) c.2562G>A (p.Gln854=) c.2541G>A (p.Gln847=) c.2535G>A (p.Gln845=) c.2490G>A (p.Gln830=) c.2481G>A (p.Gln827=) c.2457G>A (p.Gln819=) c.2451G>A (p.Gln817=) c.2424G>A (p.Gln808=) c.2418G>A (p.Gln806=) c.2412G>A (p.Gln804=) c.2361G>A (p.Gln787=) c.2280G>A (p.Gln760=) c.2308-171G>A (n.2308-171G>A) c.2202G>A (p.Gln734=) c.2208+1218G>A (n.2208+1218G>A) c.1422G>A (p.Gln474=) n.2698G>A | |
17 | g.39724878G>C | CA399303695 | ERBB2 | c.2460G>C (p.Gln820His) c.2370G>C (p.Gln790His) c.1632G>C (p.Gln544His) c.2415G>C (p.Gln805His) c.*2250G>C (n.*2250G>C) c.566G>C n.3594G>C n.2784G>C c.2598G>C (p.Gln866His) c.2553G>C (p.Gln851His) c.2508G>C (p.Gln836His) c.2577G>C (p.Gln859His) c.2562G>C (p.Gln854His) c.2541G>C (p.Gln847His) c.2535G>C (p.Gln845His) c.2490G>C (p.Gln830His) c.2481G>C (p.Gln827His) c.2457G>C (p.Gln819His) c.2451G>C (p.Gln817His) c.2424G>C (p.Gln808His) c.2418G>C (p.Gln806His) c.2412G>C (p.Gln804His) c.2361G>C (p.Gln787His) c.2280G>C (p.Gln760His) c.2308-171G>C (n.2308-171G>C) c.2202G>C (p.Gln734His) c.2208+1218G>C (n.2208+1218G>C) c.1422G>C (p.Gln474His) n.2698G>C | |
17 | g.39724878G>T | CA399303702 | ERBB2 | c.2460G>T (p.Gln820His) c.2370G>T (p.Gln790His) c.1632G>T (p.Gln544His) c.2415G>T (p.Gln805His) c.*2250G>T (n.*2250G>T) c.566G>T n.3594G>T n.2784G>T c.2598G>T (p.Gln866His) c.2553G>T (p.Gln851His) c.2508G>T (p.Gln836His) c.2577G>T (p.Gln859His) c.2562G>T (p.Gln854His) c.2541G>T (p.Gln847His) c.2535G>T (p.Gln845His) c.2490G>T (p.Gln830His) c.2481G>T (p.Gln827His) c.2457G>T (p.Gln819His) c.2451G>T (p.Gln817His) c.2424G>T (p.Gln808His) c.2418G>T (p.Gln806His) c.2412G>T (p.Gln804His) c.2361G>T (p.Gln787His) c.2280G>T (p.Gln760His) c.2308-171G>T (n.2308-171G>T) c.2202G>T (p.Gln734His) c.2208+1218G>T (n.2208+1218G>T) c.1422G>T (p.Gln474His) n.2698G>T | |
17 | g.39724879G>A | CA399303705 | ERBB2 | c.2461G>A (p.Asp821Asn) c.2371G>A (p.Asp791Asn) c.1633G>A (p.Asp545Asn) c.2416G>A (p.Asp806Asn) c.*2251G>A (n.*2251G>A) c.567G>A n.3595G>A n.2785G>A c.2599G>A (p.Asp867Asn) c.2554G>A (p.Asp852Asn) c.2509G>A (p.Asp837Asn) c.2578G>A (p.Asp860Asn) c.2563G>A (p.Asp855Asn) c.2542G>A (p.Asp848Asn) c.2536G>A (p.Asp846Asn) c.2491G>A (p.Asp831Asn) c.2482G>A (p.Asp828Asn) c.2458G>A (p.Asp820Asn) c.2452G>A (p.Asp818Asn) c.2425G>A (p.Asp809Asn) c.2419G>A (p.Asp807Asn) c.2413G>A (p.Asp805Asn) c.2362G>A (p.Asp788Asn) c.2281G>A (p.Asp761Asn) c.2308-170G>A (n.2308-170G>A) c.2203G>A (p.Asp735Asn) c.2208+1219G>A (n.2208+1219G>A) c.1423G>A (p.Asp475Asn) n.2699G>A | |
17 | g.39724879G>C | CA399303710 | ERBB2 | c.2461G>C (p.Asp821His) c.2371G>C (p.Asp791His) c.1633G>C (p.Asp545His) c.2416G>C (p.Asp806His) c.*2251G>C (n.*2251G>C) c.567G>C n.3595G>C n.2785G>C c.2599G>C (p.Asp867His) c.2554G>C (p.Asp852His) c.2509G>C (p.Asp837His) c.2578G>C (p.Asp860His) c.2563G>C (p.Asp855His) c.2542G>C (p.Asp848His) c.2536G>C (p.Asp846His) c.2491G>C (p.Asp831His) c.2482G>C (p.Asp828His) c.2458G>C (p.Asp820His) c.2452G>C (p.Asp818His) c.2425G>C (p.Asp809His) c.2419G>C (p.Asp807His) c.2413G>C (p.Asp805His) c.2362G>C (p.Asp788His) c.2281G>C (p.Asp761His) c.2308-170G>C (n.2308-170G>C) c.2203G>C (p.Asp735His) c.2208+1219G>C (n.2208+1219G>C) c.1423G>C (p.Asp475His) n.2699G>C | |
17 | g.39724879G>T | CA399303712 | ERBB2 | c.2461G>T (p.Asp821Tyr) c.2371G>T (p.Asp791Tyr) c.1633G>T (p.Asp545Tyr) c.2416G>T (p.Asp806Tyr) c.*2251G>T (n.*2251G>T) c.567G>T n.3595G>T n.2785G>T c.2599G>T (p.Asp867Tyr) c.2554G>T (p.Asp852Tyr) c.2509G>T (p.Asp837Tyr) c.2578G>T (p.Asp860Tyr) c.2563G>T (p.Asp855Tyr) c.2542G>T (p.Asp848Tyr) c.2536G>T (p.Asp846Tyr) c.2491G>T (p.Asp831Tyr) c.2482G>T (p.Asp828Tyr) c.2458G>T (p.Asp820Tyr) c.2452G>T (p.Asp818Tyr) c.2425G>T (p.Asp809Tyr) c.2419G>T (p.Asp807Tyr) c.2413G>T (p.Asp805Tyr) c.2362G>T (p.Asp788Tyr) c.2281G>T (p.Asp761Tyr) c.2308-170G>T (n.2308-170G>T) c.2203G>T (p.Asp735Tyr) c.2208+1219G>T (n.2208+1219G>T) c.1423G>T (p.Asp475Tyr) n.2699G>T | COSMIC |
17 | g.39724880A>C | CA399303719 | ERBB2 | c.2462A>C (p.Asp821Ala) c.2372A>C (p.Asp791Ala) c.1634A>C (p.Asp545Ala) c.2417A>C (p.Asp806Ala) c.*2252A>C (n.*2252A>C) c.568A>C n.3596A>C n.2786A>C c.2600A>C (p.Asp867Ala) c.2555A>C (p.Asp852Ala) c.2510A>C (p.Asp837Ala) c.2579A>C (p.Asp860Ala) c.2564A>C (p.Asp855Ala) c.2543A>C (p.Asp848Ala) c.2537A>C (p.Asp846Ala) c.2492A>C (p.Asp831Ala) c.2483A>C (p.Asp828Ala) c.2459A>C (p.Asp820Ala) c.2453A>C (p.Asp818Ala) c.2426A>C (p.Asp809Ala) c.2420A>C (p.Asp807Ala) c.2414A>C (p.Asp805Ala) c.2363A>C (p.Asp788Ala) c.2282A>C (p.Asp761Ala) c.2308-169A>C (n.2308-169A>C) c.2204A>C (p.Asp735Ala) c.2208+1220A>C (n.2208+1220A>C) c.1424A>C (p.Asp475Ala) n.2700A>C | dbSNP |
17 | g.39724880A>G | CA399303716 | ERBB2 | c.2462A>G (p.Asp821Gly) c.2372A>G (p.Asp791Gly) c.1634A>G (p.Asp545Gly) c.2417A>G (p.Asp806Gly) c.*2252A>G (n.*2252A>G) c.568A>G n.3596A>G n.2786A>G c.2600A>G (p.Asp867Gly) c.2555A>G (p.Asp852Gly) c.2510A>G (p.Asp837Gly) c.2579A>G (p.Asp860Gly) c.2564A>G (p.Asp855Gly) c.2543A>G (p.Asp848Gly) c.2537A>G (p.Asp846Gly) c.2492A>G (p.Asp831Gly) c.2483A>G (p.Asp828Gly) c.2459A>G (p.Asp820Gly) c.2453A>G (p.Asp818Gly) c.2426A>G (p.Asp809Gly) c.2420A>G (p.Asp807Gly) c.2414A>G (p.Asp805Gly) c.2363A>G (p.Asp788Gly) c.2282A>G (p.Asp761Gly) c.2308-169A>G (n.2308-169A>G) c.2204A>G (p.Asp735Gly) c.2208+1220A>G (n.2208+1220A>G) c.1424A>G (p.Asp475Gly) n.2700A>G | dbSNP |
17 | g.39724880A>T | CA399303714 | ERBB2 | c.2462A>T (p.Asp821Val) c.2372A>T (p.Asp791Val) c.1634A>T (p.Asp545Val) c.2417A>T (p.Asp806Val) c.*2252A>T (n.*2252A>T) c.568A>T n.3596A>T n.2786A>T c.2600A>T (p.Asp867Val) c.2555A>T (p.Asp852Val) c.2510A>T (p.Asp837Val) c.2579A>T (p.Asp860Val) c.2564A>T (p.Asp855Val) c.2543A>T (p.Asp848Val) c.2537A>T (p.Asp846Val) c.2492A>T (p.Asp831Val) c.2483A>T (p.Asp828Val) c.2459A>T (p.Asp820Val) c.2453A>T (p.Asp818Val) c.2426A>T (p.Asp809Val) c.2420A>T (p.Asp807Val) c.2414A>T (p.Asp805Val) c.2363A>T (p.Asp788Val) c.2282A>T (p.Asp761Val) c.2308-169A>T (n.2308-169A>T) c.2204A>T (p.Asp735Val) c.2208+1220A>T (n.2208+1220A>T) c.1424A>T (p.Asp475Val) n.2700A>T | dbSNP |
17 | g.39724881C>A | CA399303723 | ERBB2 | c.2463C>A (p.Asp821Glu) c.2373C>A (p.Asp791Glu) c.1635C>A (p.Asp545Glu) c.2418C>A (p.Asp806Glu) c.*2253C>A (n.*2253C>A) c.569C>A n.3597C>A n.2787C>A c.2601C>A (p.Asp867Glu) c.2556C>A (p.Asp852Glu) c.2511C>A (p.Asp837Glu) c.2580C>A (p.Asp860Glu) c.2565C>A (p.Asp855Glu) c.2544C>A (p.Asp848Glu) c.2538C>A (p.Asp846Glu) c.2493C>A (p.Asp831Glu) c.2484C>A (p.Asp828Glu) c.2460C>A (p.Asp820Glu) c.2454C>A (p.Asp818Glu) c.2427C>A (p.Asp809Glu) c.2421C>A (p.Asp807Glu) c.2415C>A (p.Asp805Glu) c.2364C>A (p.Asp788Glu) c.2283C>A (p.Asp761Glu) c.2308-168C>A (n.2308-168C>A) c.2205C>A (p.Asp735Glu) c.2208+1221C>A (n.2208+1221C>A) c.1425C>A (p.Asp475Glu) n.2701C>A | |
17 | g.39724881C>G | CA399303732 | ERBB2 | c.2463C>G (p.Asp821Glu) c.2373C>G (p.Asp791Glu) c.1635C>G (p.Asp545Glu) c.2418C>G (p.Asp806Glu) c.*2253C>G (n.*2253C>G) c.569C>G n.3597C>G n.2787C>G c.2601C>G (p.Asp867Glu) c.2556C>G (p.Asp852Glu) c.2511C>G (p.Asp837Glu) c.2580C>G (p.Asp860Glu) c.2565C>G (p.Asp855Glu) c.2544C>G (p.Asp848Glu) c.2538C>G (p.Asp846Glu) c.2493C>G (p.Asp831Glu) c.2484C>G (p.Asp828Glu) c.2460C>G (p.Asp820Glu) c.2454C>G (p.Asp818Glu) c.2427C>G (p.Asp809Glu) c.2421C>G (p.Asp807Glu) c.2415C>G (p.Asp805Glu) c.2364C>G (p.Asp788Glu) c.2283C>G (p.Asp761Glu) c.2308-168C>G (n.2308-168C>G) c.2205C>G (p.Asp735Glu) c.2208+1221C>G (n.2208+1221C>G) c.1425C>G (p.Asp475Glu) n.2701C>G | |
17 | g.39724881C>T | CA499670940 | ERBB2 | c.2463C>T (p.Asp821=) c.2373C>T (p.Asp791=) c.1635C>T (p.Asp545=) c.2418C>T (p.Asp806=) c.*2253C>T (n.*2253C>T) c.569C>T n.3597C>T n.2787C>T c.2601C>T (p.Asp867=) c.2556C>T (p.Asp852=) c.2511C>T (p.Asp837=) c.2580C>T (p.Asp860=) c.2565C>T (p.Asp855=) c.2544C>T (p.Asp848=) c.2538C>T (p.Asp846=) c.2493C>T (p.Asp831=) c.2484C>T (p.Asp828=) c.2460C>T (p.Asp820=) c.2454C>T (p.Asp818=) c.2427C>T (p.Asp809=) c.2421C>T (p.Asp807=) c.2415C>T (p.Asp805=) c.2364C>T (p.Asp788=) c.2283C>T (p.Asp761=) c.2308-168C>T (n.2308-168C>T) c.2205C>T (p.Asp735=) c.2208+1221C>T (n.2208+1221C>T) c.1425C>T (p.Asp475=) n.2701C>T | dbSNP |
17 | g.39724882dup | CA2839261953 | ERBB2 | c.2464dup (p.Leu822ProfsTer?) c.2374dup (p.Leu792ProfsTer?) c.1636dup (p.Leu546ProfsTer?) c.2419dup (p.Leu807ProfsTer?) c.*2254dup (n.*2254dup) c.570dup n.3598dup n.2788dup c.2602dup (p.Leu868ProfsTer?) c.2557dup (p.Leu853ProfsTer?) c.2512dup (p.Leu838ProfsTer?) c.2581dup (p.Leu861ProfsTer?) c.2566dup (p.Leu856ProfsTer?) c.2545dup (p.Leu849ProfsTer?) c.2539dup (p.Leu847ProfsTer?) c.2494dup (p.Leu832ProfsTer?) c.2485dup (p.Leu829ProfsTer?) c.2461dup (p.Leu821ProfsTer?) c.2455dup (p.Leu819ProfsTer?) c.2428dup (p.Leu810ProfsTer?) c.2422dup (p.Leu808ProfsTer?) c.2416dup (p.Leu806ProfsTer?) c.2365dup (p.Leu789ProfsTer?) c.2284dup (p.Leu762ProfsTer?) c.2308-167dup (n.2308-167dup) c.2206dup (p.Leu736ProfsTer?) c.2208+1222dup (n.2208+1222dup) c.1426dup (p.Leu476ProfsTer?) n.2702dup | |
17 | g.39724882C>A | CA399303745 | ERBB2 | c.2464C>A (p.Leu822Met) c.2374C>A (p.Leu792Met) c.1636C>A (p.Leu546Met) c.2419C>A (p.Leu807Met) c.*2254C>A (n.*2254C>A) c.570C>A n.3598C>A n.2788C>A c.2602C>A (p.Leu868Met) c.2557C>A (p.Leu853Met) c.2512C>A (p.Leu838Met) c.2581C>A (p.Leu861Met) c.2566C>A (p.Leu856Met) c.2545C>A (p.Leu849Met) c.2539C>A (p.Leu847Met) c.2494C>A (p.Leu832Met) c.2485C>A (p.Leu829Met) c.2461C>A (p.Leu821Met) c.2455C>A (p.Leu819Met) c.2428C>A (p.Leu810Met) c.2422C>A (p.Leu808Met) c.2416C>A (p.Leu806Met) c.2365C>A (p.Leu789Met) c.2284C>A (p.Leu762Met) c.2308-167C>A (n.2308-167C>A) c.2206C>A (p.Leu736Met) c.2208+1222C>A (n.2208+1222C>A) c.1426C>A (p.Leu476Met) n.2702C>A | dbSNP |
17 | g.39724882C= | CA2259228040 | ERBB2 | c.2464C= (p.Leu822=) c.2374C= (p.Leu792=) c.1636C= (p.Leu546=) c.2419C= (p.Leu807=) c.*2254C= (n.*2254C=) c.570C= n.3598C= n.2788C= c.2602C= (p.Leu868=) c.2557C= (p.Leu853=) c.2512C= (p.Leu838=) c.2581C= (p.Leu861=) c.2566C= (p.Leu856=) c.2545C= (p.Leu849=) c.2539C= (p.Leu847=) c.2494C= (p.Leu832=) c.2485C= (p.Leu829=) c.2461C= (p.Leu821=) c.2455C= (p.Leu819=) c.2428C= (p.Leu810=) c.2422C= (p.Leu808=) c.2416C= (p.Leu806=) c.2365C= (p.Leu789=) c.2284C= (p.Leu762=) c.2308-167C= (n.2308-167C=) c.2206C= (p.Leu736=) c.2208+1222C= (n.2208+1222C=) c.1426C= (p.Leu476=) n.2702C= | |
17 | g.39724882C>G | CA399303747 | ERBB2 | c.2464C>G (p.Leu822Val) c.2374C>G (p.Leu792Val) c.1636C>G (p.Leu546Val) c.2419C>G (p.Leu807Val) c.*2254C>G (n.*2254C>G) c.570C>G n.3598C>G n.2788C>G c.2602C>G (p.Leu868Val) c.2557C>G (p.Leu853Val) c.2512C>G (p.Leu838Val) c.2581C>G (p.Leu861Val) c.2566C>G (p.Leu856Val) c.2545C>G (p.Leu849Val) c.2539C>G (p.Leu847Val) c.2494C>G (p.Leu832Val) c.2485C>G (p.Leu829Val) c.2461C>G (p.Leu821Val) c.2455C>G (p.Leu819Val) c.2428C>G (p.Leu810Val) c.2422C>G (p.Leu808Val) c.2416C>G (p.Leu806Val) c.2365C>G (p.Leu789Val) c.2284C>G (p.Leu762Val) c.2308-167C>G (n.2308-167C>G) c.2206C>G (p.Leu736Val) c.2208+1222C>G (n.2208+1222C>G) c.1426C>G (p.Leu476Val) n.2702C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724882C>T | CA499670941 | ERBB2 | c.2464C>T (p.Leu822=) c.2374C>T (p.Leu792=) c.1636C>T (p.Leu546=) c.2419C>T (p.Leu807=) c.*2254C>T (n.*2254C>T) c.570C>T n.3598C>T n.2788C>T c.2602C>T (p.Leu868=) c.2557C>T (p.Leu853=) c.2512C>T (p.Leu838=) c.2581C>T (p.Leu861=) c.2566C>T (p.Leu856=) c.2545C>T (p.Leu849=) c.2539C>T (p.Leu847=) c.2494C>T (p.Leu832=) c.2485C>T (p.Leu829=) c.2461C>T (p.Leu821=) c.2455C>T (p.Leu819=) c.2428C>T (p.Leu810=) c.2422C>T (p.Leu808=) c.2416C>T (p.Leu806=) c.2365C>T (p.Leu789=) c.2284C>T (p.Leu762=) c.2308-167C>T (n.2308-167C>T) c.2206C>T (p.Leu736=) c.2208+1222C>T (n.2208+1222C>T) c.1426C>T (p.Leu476=) n.2702C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724883T>A | CA399303762 | ERBB2 | c.2465T>A (p.Leu822Gln) c.2375T>A (p.Leu792Gln) c.1637T>A (p.Leu546Gln) c.2420T>A (p.Leu807Gln) c.*2255T>A (n.*2255T>A) c.571T>A n.3599T>A n.2789T>A c.2603T>A (p.Leu868Gln) c.2558T>A (p.Leu853Gln) c.2513T>A (p.Leu838Gln) c.2582T>A (p.Leu861Gln) c.2567T>A (p.Leu856Gln) c.2546T>A (p.Leu849Gln) c.2540T>A (p.Leu847Gln) c.2495T>A (p.Leu832Gln) c.2486T>A (p.Leu829Gln) c.2462T>A (p.Leu821Gln) c.2456T>A (p.Leu819Gln) c.2429T>A (p.Leu810Gln) c.2423T>A (p.Leu808Gln) c.2417T>A (p.Leu806Gln) c.2366T>A (p.Leu789Gln) c.2285T>A (p.Leu762Gln) c.2308-166T>A (n.2308-166T>A) c.2207T>A (p.Leu736Gln) c.2208+1223T>A (n.2208+1223T>A) c.1427T>A (p.Leu476Gln) n.2703T>A | dbSNP |
17 | g.39724883T>C | CA399303772 | ERBB2 | c.2465T>C (p.Leu822Pro) c.2375T>C (p.Leu792Pro) c.1637T>C (p.Leu546Pro) c.2420T>C (p.Leu807Pro) c.*2255T>C (n.*2255T>C) c.571T>C n.3599T>C n.2789T>C c.2603T>C (p.Leu868Pro) c.2558T>C (p.Leu853Pro) c.2513T>C (p.Leu838Pro) c.2582T>C (p.Leu861Pro) c.2567T>C (p.Leu856Pro) c.2546T>C (p.Leu849Pro) c.2540T>C (p.Leu847Pro) c.2495T>C (p.Leu832Pro) c.2486T>C (p.Leu829Pro) c.2462T>C (p.Leu821Pro) c.2456T>C (p.Leu819Pro) c.2429T>C (p.Leu810Pro) c.2423T>C (p.Leu808Pro) c.2417T>C (p.Leu806Pro) c.2366T>C (p.Leu789Pro) c.2285T>C (p.Leu762Pro) c.2308-166T>C (n.2308-166T>C) c.2207T>C (p.Leu736Pro) c.2208+1223T>C (n.2208+1223T>C) c.1427T>C (p.Leu476Pro) n.2703T>C | dbSNP |
17 | g.39724883T>G | CA399303776 | ERBB2 | c.2465T>G (p.Leu822Arg) c.2375T>G (p.Leu792Arg) c.1637T>G (p.Leu546Arg) c.2420T>G (p.Leu807Arg) c.*2255T>G (n.*2255T>G) c.571T>G n.3599T>G n.2789T>G c.2603T>G (p.Leu868Arg) c.2558T>G (p.Leu853Arg) c.2513T>G (p.Leu838Arg) c.2582T>G (p.Leu861Arg) c.2567T>G (p.Leu856Arg) c.2546T>G (p.Leu849Arg) c.2540T>G (p.Leu847Arg) c.2495T>G (p.Leu832Arg) c.2486T>G (p.Leu829Arg) c.2462T>G (p.Leu821Arg) c.2456T>G (p.Leu819Arg) c.2429T>G (p.Leu810Arg) c.2423T>G (p.Leu808Arg) c.2417T>G (p.Leu806Arg) c.2366T>G (p.Leu789Arg) c.2285T>G (p.Leu762Arg) c.2308-166T>G (n.2308-166T>G) c.2207T>G (p.Leu736Arg) c.2208+1223T>G (n.2208+1223T>G) c.1427T>G (p.Leu476Arg) n.2703T>G | |
17 | g.39724884G>A | CA499670942 | ERBB2 | c.2466G>A (p.Leu822=) c.2376G>A (p.Leu792=) c.1638G>A (p.Leu546=) c.2421G>A (p.Leu807=) c.*2256G>A (n.*2256G>A) c.572G>A n.3600G>A n.2790G>A c.2604G>A (p.Leu868=) c.2559G>A (p.Leu853=) c.2514G>A (p.Leu838=) c.2583G>A (p.Leu861=) c.2568G>A (p.Leu856=) c.2547G>A (p.Leu849=) c.2541G>A (p.Leu847=) c.2496G>A (p.Leu832=) c.2487G>A (p.Leu829=) c.2463G>A (p.Leu821=) c.2457G>A (p.Leu819=) c.2430G>A (p.Leu810=) c.2424G>A (p.Leu808=) c.2418G>A (p.Leu806=) c.2367G>A (p.Leu789=) c.2286G>A (p.Leu762=) c.2308-165G>A (n.2308-165G>A) c.2208G>A (p.Leu736=) c.2208+1224G>A (n.2208+1224G>A) c.1428G>A (p.Leu476=) n.2704G>A | dbSNP gnomAD v4 |
17 | g.39724884G>C | CA499670943 | ERBB2 | c.2466G>C (p.Leu822=) c.2376G>C (p.Leu792=) c.1638G>C (p.Leu546=) c.2421G>C (p.Leu807=) c.*2256G>C (n.*2256G>C) c.572G>C n.3600G>C n.2790G>C c.2604G>C (p.Leu868=) c.2559G>C (p.Leu853=) c.2514G>C (p.Leu838=) c.2583G>C (p.Leu861=) c.2568G>C (p.Leu856=) c.2547G>C (p.Leu849=) c.2541G>C (p.Leu847=) c.2496G>C (p.Leu832=) c.2487G>C (p.Leu829=) c.2463G>C (p.Leu821=) c.2457G>C (p.Leu819=) c.2430G>C (p.Leu810=) c.2424G>C (p.Leu808=) c.2418G>C (p.Leu806=) c.2367G>C (p.Leu789=) c.2286G>C (p.Leu762=) c.2308-165G>C (n.2308-165G>C) c.2208G>C (p.Leu736=) c.2208+1224G>C (n.2208+1224G>C) c.1428G>C (p.Leu476=) n.2704G>C | dbSNP |
17 | g.39724884G>T | CA499670944 | ERBB2 | c.2466G>T (p.Leu822=) c.2376G>T (p.Leu792=) c.1638G>T (p.Leu546=) c.2421G>T (p.Leu807=) c.*2256G>T (n.*2256G>T) c.572G>T n.3600G>T n.2790G>T c.2604G>T (p.Leu868=) c.2559G>T (p.Leu853=) c.2514G>T (p.Leu838=) c.2583G>T (p.Leu861=) c.2568G>T (p.Leu856=) c.2547G>T (p.Leu849=) c.2541G>T (p.Leu847=) c.2496G>T (p.Leu832=) c.2487G>T (p.Leu829=) c.2463G>T (p.Leu821=) c.2457G>T (p.Leu819=) c.2430G>T (p.Leu810=) c.2424G>T (p.Leu808=) c.2418G>T (p.Leu806=) c.2367G>T (p.Leu789=) c.2286G>T (p.Leu762=) c.2308-165G>T (n.2308-165G>T) c.2208G>T (p.Leu736=) c.2208+1224G>T (n.2208+1224G>T) c.1428G>T (p.Leu476=) n.2704G>T | dbSNP |
17 | g.39724885C>A | CA399303782 | ERBB2 | c.2467C>A (p.Leu823Met) c.2377C>A (p.Leu793Met) c.1639C>A (p.Leu547Met) c.2422C>A (p.Leu808Met) c.*2257C>A (n.*2257C>A) c.573C>A n.3601C>A n.2791C>A c.2605C>A (p.Leu869Met) c.2560C>A (p.Leu854Met) c.2515C>A (p.Leu839Met) c.2584C>A (p.Leu862Met) c.2569C>A (p.Leu857Met) c.2548C>A (p.Leu850Met) c.2542C>A (p.Leu848Met) c.2497C>A (p.Leu833Met) c.2488C>A (p.Leu830Met) c.2464C>A (p.Leu822Met) c.2458C>A (p.Leu820Met) c.2431C>A (p.Leu811Met) c.2425C>A (p.Leu809Met) c.2419C>A (p.Leu807Met) c.2368C>A (p.Leu790Met) c.2287C>A (p.Leu763Met) c.2308-164C>A (n.2308-164C>A) c.2209C>A (p.Leu737Met) c.2208+1225C>A (n.2208+1225C>A) c.1429C>A (p.Leu477Met) n.2705C>A | dbSNP |
17 | g.39724885C>G | CA399303784 | ERBB2 | c.2467C>G (p.Leu823Val) c.2377C>G (p.Leu793Val) c.1639C>G (p.Leu547Val) c.2422C>G (p.Leu808Val) c.*2257C>G (n.*2257C>G) c.573C>G n.3601C>G n.2791C>G c.2605C>G (p.Leu869Val) c.2560C>G (p.Leu854Val) c.2515C>G (p.Leu839Val) c.2584C>G (p.Leu862Val) c.2569C>G (p.Leu857Val) c.2548C>G (p.Leu850Val) c.2542C>G (p.Leu848Val) c.2497C>G (p.Leu833Val) c.2488C>G (p.Leu830Val) c.2464C>G (p.Leu822Val) c.2458C>G (p.Leu820Val) c.2431C>G (p.Leu811Val) c.2425C>G (p.Leu809Val) c.2419C>G (p.Leu807Val) c.2368C>G (p.Leu790Val) c.2287C>G (p.Leu763Val) c.2308-164C>G (n.2308-164C>G) c.2209C>G (p.Leu737Val) c.2208+1225C>G (n.2208+1225C>G) c.1429C>G (p.Leu477Val) n.2705C>G | dbSNP |
17 | g.39724885C>T | CA499670945 | ERBB2 | c.2467C>T (p.Leu823=) c.2377C>T (p.Leu793=) c.1639C>T (p.Leu547=) c.2422C>T (p.Leu808=) c.*2257C>T (n.*2257C>T) c.573C>T n.3601C>T n.2791C>T c.2605C>T (p.Leu869=) c.2560C>T (p.Leu854=) c.2515C>T (p.Leu839=) c.2584C>T (p.Leu862=) c.2569C>T (p.Leu857=) c.2548C>T (p.Leu850=) c.2542C>T (p.Leu848=) c.2497C>T (p.Leu833=) c.2488C>T (p.Leu830=) c.2464C>T (p.Leu822=) c.2458C>T (p.Leu820=) c.2431C>T (p.Leu811=) c.2425C>T (p.Leu809=) c.2419C>T (p.Leu807=) c.2368C>T (p.Leu790=) c.2287C>T (p.Leu763=) c.2308-164C>T (n.2308-164C>T) c.2209C>T (p.Leu737=) c.2208+1225C>T (n.2208+1225C>T) c.1429C>T (p.Leu477=) n.2705C>T | dbSNP |
17 | g.39724886T>A | CA399303785 | ERBB2 | c.2468T>A (p.Leu823Gln) c.2378T>A (p.Leu793Gln) c.1640T>A (p.Leu547Gln) c.2423T>A (p.Leu808Gln) c.*2258T>A (n.*2258T>A) c.574T>A n.3602T>A n.2792T>A c.2606T>A (p.Leu869Gln) c.2561T>A (p.Leu854Gln) c.2516T>A (p.Leu839Gln) c.2585T>A (p.Leu862Gln) c.2570T>A (p.Leu857Gln) c.2549T>A (p.Leu850Gln) c.2543T>A (p.Leu848Gln) c.2498T>A (p.Leu833Gln) c.2489T>A (p.Leu830Gln) c.2465T>A (p.Leu822Gln) c.2459T>A (p.Leu820Gln) c.2432T>A (p.Leu811Gln) c.2426T>A (p.Leu809Gln) c.2420T>A (p.Leu807Gln) c.2369T>A (p.Leu790Gln) c.2288T>A (p.Leu763Gln) c.2308-163T>A (n.2308-163T>A) c.2210T>A (p.Leu737Gln) c.2208+1226T>A (n.2208+1226T>A) c.1430T>A (p.Leu477Gln) n.2706T>A | dbSNP |
17 | g.39724886T>C | CA399303787 | ERBB2 | c.2468T>C (p.Leu823Pro) c.2378T>C (p.Leu793Pro) c.1640T>C (p.Leu547Pro) c.2423T>C (p.Leu808Pro) c.*2258T>C (n.*2258T>C) c.574T>C n.3602T>C n.2792T>C c.2606T>C (p.Leu869Pro) c.2561T>C (p.Leu854Pro) c.2516T>C (p.Leu839Pro) c.2585T>C (p.Leu862Pro) c.2570T>C (p.Leu857Pro) c.2549T>C (p.Leu850Pro) c.2543T>C (p.Leu848Pro) c.2498T>C (p.Leu833Pro) c.2489T>C (p.Leu830Pro) c.2465T>C (p.Leu822Pro) c.2459T>C (p.Leu820Pro) c.2432T>C (p.Leu811Pro) c.2426T>C (p.Leu809Pro) c.2420T>C (p.Leu807Pro) c.2369T>C (p.Leu790Pro) c.2288T>C (p.Leu763Pro) c.2308-163T>C (n.2308-163T>C) c.2210T>C (p.Leu737Pro) c.2208+1226T>C (n.2208+1226T>C) c.1430T>C (p.Leu477Pro) n.2706T>C | dbSNP |
17 | g.39724886T>G | CA399303789 | ERBB2 | c.2468T>G (p.Leu823Arg) c.2378T>G (p.Leu793Arg) c.1640T>G (p.Leu547Arg) c.2423T>G (p.Leu808Arg) c.*2258T>G (n.*2258T>G) c.574T>G n.3602T>G n.2792T>G c.2606T>G (p.Leu869Arg) c.2561T>G (p.Leu854Arg) c.2516T>G (p.Leu839Arg) c.2585T>G (p.Leu862Arg) c.2570T>G (p.Leu857Arg) c.2549T>G (p.Leu850Arg) c.2543T>G (p.Leu848Arg) c.2498T>G (p.Leu833Arg) c.2489T>G (p.Leu830Arg) c.2465T>G (p.Leu822Arg) c.2459T>G (p.Leu820Arg) c.2432T>G (p.Leu811Arg) c.2426T>G (p.Leu809Arg) c.2420T>G (p.Leu807Arg) c.2369T>G (p.Leu790Arg) c.2288T>G (p.Leu763Arg) c.2308-163T>G (n.2308-163T>G) c.2210T>G (p.Leu737Arg) c.2208+1226T>G (n.2208+1226T>G) c.1430T>G (p.Leu477Arg) n.2706T>G | |
17 | g.39724887G>A | CA8534304 | ERBB2 | c.2469G>A (p.Leu823=) c.2379G>A (p.Leu793=) c.1641G>A (p.Leu547=) c.2424G>A (p.Leu808=) c.*2259G>A (n.*2259G>A) c.575G>A n.3603G>A n.2793G>A c.2607G>A (p.Leu869=) c.2562G>A (p.Leu854=) c.2517G>A (p.Leu839=) c.2586G>A (p.Leu862=) c.2571G>A (p.Leu857=) c.2550G>A (p.Leu850=) c.2544G>A (p.Leu848=) c.2499G>A (p.Leu833=) c.2490G>A (p.Leu830=) c.2466G>A (p.Leu822=) c.2460G>A (p.Leu820=) c.2433G>A (p.Leu811=) c.2427G>A (p.Leu809=) c.2421G>A (p.Leu807=) c.2370G>A (p.Leu790=) c.2289G>A (p.Leu763=) c.2308-162G>A (n.2308-162G>A) c.2211G>A (p.Leu737=) c.2208+1227G>A (n.2208+1227G>A) c.1431G>A (p.Leu477=) n.2707G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724887G>C | CA499670946 | ERBB2 | c.2469G>C (p.Leu823=) c.2379G>C (p.Leu793=) c.1641G>C (p.Leu547=) c.2424G>C (p.Leu808=) c.*2259G>C (n.*2259G>C) c.575G>C n.3603G>C n.2793G>C c.2607G>C (p.Leu869=) c.2562G>C (p.Leu854=) c.2517G>C (p.Leu839=) c.2586G>C (p.Leu862=) c.2571G>C (p.Leu857=) c.2550G>C (p.Leu850=) c.2544G>C (p.Leu848=) c.2499G>C (p.Leu833=) c.2490G>C (p.Leu830=) c.2466G>C (p.Leu822=) c.2460G>C (p.Leu820=) c.2433G>C (p.Leu811=) c.2427G>C (p.Leu809=) c.2421G>C (p.Leu807=) c.2370G>C (p.Leu790=) c.2289G>C (p.Leu763=) c.2308-162G>C (n.2308-162G>C) c.2211G>C (p.Leu737=) c.2208+1227G>C (n.2208+1227G>C) c.1431G>C (p.Leu477=) n.2707G>C | dbSNP gnomAD v4 |
17 | g.39724887G= | CA2259228041 | ERBB2 | c.2469G= (p.Leu823=) c.2379G= (p.Leu793=) c.1641G= (p.Leu547=) c.2424G= (p.Leu808=) c.*2259G= (n.*2259G=) c.575G= n.3603G= n.2793G= c.2607G= (p.Leu869=) c.2562G= (p.Leu854=) c.2517G= (p.Leu839=) c.2586G= (p.Leu862=) c.2571G= (p.Leu857=) c.2550G= (p.Leu850=) c.2544G= (p.Leu848=) c.2499G= (p.Leu833=) c.2490G= (p.Leu830=) c.2466G= (p.Leu822=) c.2460G= (p.Leu820=) c.2433G= (p.Leu811=) c.2427G= (p.Leu809=) c.2421G= (p.Leu807=) c.2370G= (p.Leu790=) c.2289G= (p.Leu763=) c.2308-162G= (n.2308-162G=) c.2211G= (p.Leu737=) c.2208+1227G= (n.2208+1227G=) c.1431G= (p.Leu477=) n.2707G= | |
17 | g.39724887G>T | CA499670947 | ERBB2 | c.2469G>T (p.Leu823=) c.2379G>T (p.Leu793=) c.1641G>T (p.Leu547=) c.2424G>T (p.Leu808=) c.*2259G>T (n.*2259G>T) c.575G>T n.3603G>T n.2793G>T c.2607G>T (p.Leu869=) c.2562G>T (p.Leu854=) c.2517G>T (p.Leu839=) c.2586G>T (p.Leu862=) c.2571G>T (p.Leu857=) c.2550G>T (p.Leu850=) c.2544G>T (p.Leu848=) c.2499G>T (p.Leu833=) c.2490G>T (p.Leu830=) c.2466G>T (p.Leu822=) c.2460G>T (p.Leu820=) c.2433G>T (p.Leu811=) c.2427G>T (p.Leu809=) c.2421G>T (p.Leu807=) c.2370G>T (p.Leu790=) c.2289G>T (p.Leu763=) c.2308-162G>T (n.2308-162G>T) c.2211G>T (p.Leu737=) c.2208+1227G>T (n.2208+1227G>T) c.1431G>T (p.Leu477=) n.2707G>T | dbSNP |
17 | g.39724888A>C | CA399303803 | ERBB2 | c.2470A>C (p.Asn824His) c.2380A>C (p.Asn794His) c.1642A>C (p.Asn548His) c.2425A>C (p.Asn809His) c.*2260A>C (n.*2260A>C) c.576A>C n.3604A>C n.2794A>C c.2608A>C (p.Asn870His) c.2563A>C (p.Asn855His) c.2518A>C (p.Asn840His) c.2587A>C (p.Asn863His) c.2572A>C (p.Asn858His) c.2551A>C (p.Asn851His) c.2545A>C (p.Asn849His) c.2500A>C (p.Asn834His) c.2491A>C (p.Asn831His) c.2467A>C (p.Asn823His) c.2461A>C (p.Asn821His) c.2434A>C (p.Asn812His) c.2428A>C (p.Asn810His) c.2422A>C (p.Asn808His) c.2371A>C (p.Asn791His) c.2290A>C (p.Asn764His) c.2308-161A>C (n.2308-161A>C) c.2212A>C (p.Asn738His) c.2208+1228A>C (n.2208+1228A>C) c.1432A>C (p.Asn478His) n.2708A>C | dbSNP |
17 | g.39724888A>G | CA399303801 | ERBB2 | c.2470A>G (p.Asn824Asp) c.2380A>G (p.Asn794Asp) c.1642A>G (p.Asn548Asp) c.2425A>G (p.Asn809Asp) c.*2260A>G (n.*2260A>G) c.576A>G n.3604A>G n.2794A>G c.2608A>G (p.Asn870Asp) c.2563A>G (p.Asn855Asp) c.2518A>G (p.Asn840Asp) c.2587A>G (p.Asn863Asp) c.2572A>G (p.Asn858Asp) c.2551A>G (p.Asn851Asp) c.2545A>G (p.Asn849Asp) c.2500A>G (p.Asn834Asp) c.2491A>G (p.Asn831Asp) c.2467A>G (p.Asn823Asp) c.2461A>G (p.Asn821Asp) c.2434A>G (p.Asn812Asp) c.2428A>G (p.Asn810Asp) c.2422A>G (p.Asn808Asp) c.2371A>G (p.Asn791Asp) c.2290A>G (p.Asn764Asp) c.2308-161A>G (n.2308-161A>G) c.2212A>G (p.Asn738Asp) c.2208+1228A>G (n.2208+1228A>G) c.1432A>G (p.Asn478Asp) n.2708A>G | dbSNP |
17 | g.39724888A>T | CA399303796 | ERBB2 | c.2470A>T (p.Asn824Tyr) c.2380A>T (p.Asn794Tyr) c.1642A>T (p.Asn548Tyr) c.2425A>T (p.Asn809Tyr) c.*2260A>T (n.*2260A>T) c.576A>T n.3604A>T n.2794A>T c.2608A>T (p.Asn870Tyr) c.2563A>T (p.Asn855Tyr) c.2518A>T (p.Asn840Tyr) c.2587A>T (p.Asn863Tyr) c.2572A>T (p.Asn858Tyr) c.2551A>T (p.Asn851Tyr) c.2545A>T (p.Asn849Tyr) c.2500A>T (p.Asn834Tyr) c.2491A>T (p.Asn831Tyr) c.2467A>T (p.Asn823Tyr) c.2461A>T (p.Asn821Tyr) c.2434A>T (p.Asn812Tyr) c.2428A>T (p.Asn810Tyr) c.2422A>T (p.Asn808Tyr) c.2371A>T (p.Asn791Tyr) c.2290A>T (p.Asn764Tyr) c.2308-161A>T (n.2308-161A>T) c.2212A>T (p.Asn738Tyr) c.2208+1228A>T (n.2208+1228A>T) c.1432A>T (p.Asn478Tyr) n.2708A>T | dbSNP |
17 | g.39724889A= | CA2259228042 | ERBB2 | c.2471A= (p.Asn824=) c.2381A= (p.Asn794=) c.1643A= (p.Asn548=) c.2426A= (p.Asn809=) c.*2261A= (n.*2261A=) c.577A= n.3605A= n.2795A= c.2609A= (p.Asn870=) c.2564A= (p.Asn855=) c.2519A= (p.Asn840=) c.2588A= (p.Asn863=) c.2573A= (p.Asn858=) c.2552A= (p.Asn851=) c.2546A= (p.Asn849=) c.2501A= (p.Asn834=) c.2492A= (p.Asn831=) c.2468A= (p.Asn823=) c.2462A= (p.Asn821=) c.2435A= (p.Asn812=) c.2429A= (p.Asn810=) c.2423A= (p.Asn808=) c.2372A= (p.Asn791=) c.2291A= (p.Asn764=) c.2308-160A= (n.2308-160A=) c.2213A= (p.Asn738=) c.2208+1229A= (n.2208+1229A=) c.1433A= (p.Asn478=) n.2709A= | |
17 | g.39724889A>C | CA399303814 | ERBB2 | c.2471A>C (p.Asn824Thr) c.2381A>C (p.Asn794Thr) c.1643A>C (p.Asn548Thr) c.2426A>C (p.Asn809Thr) c.*2261A>C (n.*2261A>C) c.577A>C n.3605A>C n.2795A>C c.2609A>C (p.Asn870Thr) c.2564A>C (p.Asn855Thr) c.2519A>C (p.Asn840Thr) c.2588A>C (p.Asn863Thr) c.2573A>C (p.Asn858Thr) c.2552A>C (p.Asn851Thr) c.2546A>C (p.Asn849Thr) c.2501A>C (p.Asn834Thr) c.2492A>C (p.Asn831Thr) c.2468A>C (p.Asn823Thr) c.2462A>C (p.Asn821Thr) c.2435A>C (p.Asn812Thr) c.2429A>C (p.Asn810Thr) c.2423A>C (p.Asn808Thr) c.2372A>C (p.Asn791Thr) c.2291A>C (p.Asn764Thr) c.2308-160A>C (n.2308-160A>C) c.2213A>C (p.Asn738Thr) c.2208+1229A>C (n.2208+1229A>C) c.1433A>C (p.Asn478Thr) n.2709A>C | dbSNP |
17 | g.39724889A>G | CA399303812 | ERBB2 | c.2471A>G (p.Asn824Ser) c.2381A>G (p.Asn794Ser) c.1643A>G (p.Asn548Ser) c.2426A>G (p.Asn809Ser) c.*2261A>G (n.*2261A>G) c.577A>G n.3605A>G n.2795A>G c.2609A>G (p.Asn870Ser) c.2564A>G (p.Asn855Ser) c.2519A>G (p.Asn840Ser) c.2588A>G (p.Asn863Ser) c.2573A>G (p.Asn858Ser) c.2552A>G (p.Asn851Ser) c.2546A>G (p.Asn849Ser) c.2501A>G (p.Asn834Ser) c.2492A>G (p.Asn831Ser) c.2468A>G (p.Asn823Ser) c.2462A>G (p.Asn821Ser) c.2435A>G (p.Asn812Ser) c.2429A>G (p.Asn810Ser) c.2423A>G (p.Asn808Ser) c.2372A>G (p.Asn791Ser) c.2291A>G (p.Asn764Ser) c.2308-160A>G (n.2308-160A>G) c.2213A>G (p.Asn738Ser) c.2208+1229A>G (n.2208+1229A>G) c.1433A>G (p.Asn478Ser) n.2709A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724889A>T | CA399303823 | ERBB2 | c.2471A>T (p.Asn824Ile) c.2381A>T (p.Asn794Ile) c.1643A>T (p.Asn548Ile) c.2426A>T (p.Asn809Ile) c.*2261A>T (n.*2261A>T) c.577A>T n.3605A>T n.2795A>T c.2609A>T (p.Asn870Ile) c.2564A>T (p.Asn855Ile) c.2519A>T (p.Asn840Ile) c.2588A>T (p.Asn863Ile) c.2573A>T (p.Asn858Ile) c.2552A>T (p.Asn851Ile) c.2546A>T (p.Asn849Ile) c.2501A>T (p.Asn834Ile) c.2492A>T (p.Asn831Ile) c.2468A>T (p.Asn823Ile) c.2462A>T (p.Asn821Ile) c.2435A>T (p.Asn812Ile) c.2429A>T (p.Asn810Ile) c.2423A>T (p.Asn808Ile) c.2372A>T (p.Asn791Ile) c.2291A>T (p.Asn764Ile) c.2308-160A>T (n.2308-160A>T) c.2213A>T (p.Asn738Ile) c.2208+1229A>T (n.2208+1229A>T) c.1433A>T (p.Asn478Ile) n.2709A>T | dbSNP |
17 | g.39724890C>A | CA399303827 | ERBB2 | c.2472C>A (p.Asn824Lys) c.2382C>A (p.Asn794Lys) c.1644C>A (p.Asn548Lys) c.2427C>A (p.Asn809Lys) c.*2262C>A (n.*2262C>A) c.578C>A n.3606C>A n.2796C>A c.2610C>A (p.Asn870Lys) c.2565C>A (p.Asn855Lys) c.2520C>A (p.Asn840Lys) c.2589C>A (p.Asn863Lys) c.2574C>A (p.Asn858Lys) c.2553C>A (p.Asn851Lys) c.2547C>A (p.Asn849Lys) c.2502C>A (p.Asn834Lys) c.2493C>A (p.Asn831Lys) c.2469C>A (p.Asn823Lys) c.2463C>A (p.Asn821Lys) c.2436C>A (p.Asn812Lys) c.2430C>A (p.Asn810Lys) c.2424C>A (p.Asn808Lys) c.2373C>A (p.Asn791Lys) c.2292C>A (p.Asn764Lys) c.2308-159C>A (n.2308-159C>A) c.2214C>A (p.Asn738Lys) c.2208+1230C>A (n.2208+1230C>A) c.1434C>A (p.Asn478Lys) n.2710C>A | |
17 | g.39724890C= | CA2259228043 | ERBB2 | c.2472C= (p.Asn824=) c.2382C= (p.Asn794=) c.1644C= (p.Asn548=) c.2427C= (p.Asn809=) c.*2262C= (n.*2262C=) c.578C= n.3606C= n.2796C= c.2610C= (p.Asn870=) c.2565C= (p.Asn855=) c.2520C= (p.Asn840=) c.2589C= (p.Asn863=) c.2574C= (p.Asn858=) c.2553C= (p.Asn851=) c.2547C= (p.Asn849=) c.2502C= (p.Asn834=) c.2493C= (p.Asn831=) c.2469C= (p.Asn823=) c.2463C= (p.Asn821=) c.2436C= (p.Asn812=) c.2430C= (p.Asn810=) c.2424C= (p.Asn808=) c.2373C= (p.Asn791=) c.2292C= (p.Asn764=) c.2308-159C= (n.2308-159C=) c.2214C= (p.Asn738=) c.2208+1230C= (n.2208+1230C=) c.1434C= (p.Asn478=) n.2710C= | |
17 | g.39724890C>G | CA399303831 | ERBB2 | c.2472C>G (p.Asn824Lys) c.2382C>G (p.Asn794Lys) c.1644C>G (p.Asn548Lys) c.2427C>G (p.Asn809Lys) c.*2262C>G (n.*2262C>G) c.578C>G n.3606C>G n.2796C>G c.2610C>G (p.Asn870Lys) c.2565C>G (p.Asn855Lys) c.2520C>G (p.Asn840Lys) c.2589C>G (p.Asn863Lys) c.2574C>G (p.Asn858Lys) c.2553C>G (p.Asn851Lys) c.2547C>G (p.Asn849Lys) c.2502C>G (p.Asn834Lys) c.2493C>G (p.Asn831Lys) c.2469C>G (p.Asn823Lys) c.2463C>G (p.Asn821Lys) c.2436C>G (p.Asn812Lys) c.2430C>G (p.Asn810Lys) c.2424C>G (p.Asn808Lys) c.2373C>G (p.Asn791Lys) c.2292C>G (p.Asn764Lys) c.2308-159C>G (n.2308-159C>G) c.2214C>G (p.Asn738Lys) c.2208+1230C>G (n.2208+1230C>G) c.1434C>G (p.Asn478Lys) n.2710C>G | gnomAD v4 |
17 | g.39724890C>T | CA499670948 | ERBB2 | c.2472C>T (p.Asn824=) c.2382C>T (p.Asn794=) c.1644C>T (p.Asn548=) c.2427C>T (p.Asn809=) c.*2262C>T (n.*2262C>T) c.578C>T n.3606C>T n.2796C>T c.2610C>T (p.Asn870=) c.2565C>T (p.Asn855=) c.2520C>T (p.Asn840=) c.2589C>T (p.Asn863=) c.2574C>T (p.Asn858=) c.2553C>T (p.Asn851=) c.2547C>T (p.Asn849=) c.2502C>T (p.Asn834=) c.2493C>T (p.Asn831=) c.2469C>T (p.Asn823=) c.2463C>T (p.Asn821=) c.2436C>T (p.Asn812=) c.2430C>T (p.Asn810=) c.2424C>T (p.Asn808=) c.2373C>T (p.Asn791=) c.2292C>T (p.Asn764=) c.2308-159C>T (n.2308-159C>T) c.2214C>T (p.Asn738=) c.2208+1230C>T (n.2208+1230C>T) c.1434C>T (p.Asn478=) n.2710C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724891T>A | CA399303834 | ERBB2 | c.2473T>A (p.Trp825Arg) c.2383T>A (p.Trp795Arg) c.1645T>A (p.Trp549Arg) c.2428T>A (p.Trp810Arg) c.*2263T>A (n.*2263T>A) c.579T>A n.3607T>A n.2797T>A c.2611T>A (p.Trp871Arg) c.2566T>A (p.Trp856Arg) c.2521T>A (p.Trp841Arg) c.2590T>A (p.Trp864Arg) c.2575T>A (p.Trp859Arg) c.2554T>A (p.Trp852Arg) c.2548T>A (p.Trp850Arg) c.2503T>A (p.Trp835Arg) c.2494T>A (p.Trp832Arg) c.2470T>A (p.Trp824Arg) c.2464T>A (p.Trp822Arg) c.2437T>A (p.Trp813Arg) c.2431T>A (p.Trp811Arg) c.2425T>A (p.Trp809Arg) c.2374T>A (p.Trp792Arg) c.2293T>A (p.Trp765Arg) c.2308-158T>A (n.2308-158T>A) c.2215T>A (p.Trp739Arg) c.2208+1231T>A (n.2208+1231T>A) c.1435T>A (p.Trp479Arg) n.2711T>A | |
17 | g.39724891T>C | CA399303838 | ERBB2 | c.2473T>C (p.Trp825Arg) c.2383T>C (p.Trp795Arg) c.1645T>C (p.Trp549Arg) c.2428T>C (p.Trp810Arg) c.*2263T>C (n.*2263T>C) c.579T>C n.3607T>C n.2797T>C c.2611T>C (p.Trp871Arg) c.2566T>C (p.Trp856Arg) c.2521T>C (p.Trp841Arg) c.2590T>C (p.Trp864Arg) c.2575T>C (p.Trp859Arg) c.2554T>C (p.Trp852Arg) c.2548T>C (p.Trp850Arg) c.2503T>C (p.Trp835Arg) c.2494T>C (p.Trp832Arg) c.2470T>C (p.Trp824Arg) c.2464T>C (p.Trp822Arg) c.2437T>C (p.Trp813Arg) c.2431T>C (p.Trp811Arg) c.2425T>C (p.Trp809Arg) c.2374T>C (p.Trp792Arg) c.2293T>C (p.Trp765Arg) c.2308-158T>C (n.2308-158T>C) c.2215T>C (p.Trp739Arg) c.2208+1231T>C (n.2208+1231T>C) c.1435T>C (p.Trp479Arg) n.2711T>C | |
17 | g.39724891T>G | CA399303836 | ERBB2 | c.2473T>G (p.Trp825Gly) c.2383T>G (p.Trp795Gly) c.1645T>G (p.Trp549Gly) c.2428T>G (p.Trp810Gly) c.*2263T>G (n.*2263T>G) c.579T>G n.3607T>G n.2797T>G c.2611T>G (p.Trp871Gly) c.2566T>G (p.Trp856Gly) c.2521T>G (p.Trp841Gly) c.2590T>G (p.Trp864Gly) c.2575T>G (p.Trp859Gly) c.2554T>G (p.Trp852Gly) c.2548T>G (p.Trp850Gly) c.2503T>G (p.Trp835Gly) c.2494T>G (p.Trp832Gly) c.2470T>G (p.Trp824Gly) c.2464T>G (p.Trp822Gly) c.2437T>G (p.Trp813Gly) c.2431T>G (p.Trp811Gly) c.2425T>G (p.Trp809Gly) c.2374T>G (p.Trp792Gly) c.2293T>G (p.Trp765Gly) c.2308-158T>G (n.2308-158T>G) c.2215T>G (p.Trp739Gly) c.2208+1231T>G (n.2208+1231T>G) c.1435T>G (p.Trp479Gly) n.2711T>G | |
17 | g.39724891_39724894dup | CA2637621784 | ERBB2 | c.2473_2476dup (p.Cys826LeufsTer?) c.2383_2386dup (p.Cys796LeufsTer?) c.1645_1648dup (p.Cys550LeufsTer?) c.2428_2431dup (p.Cys811LeufsTer?) c.*2263_*2266dup (n.*2263_*2266dup) c.579_582dup n.3607_3610dup n.2797_2800dup c.2611_2614dup (p.Cys872LeufsTer?) c.2566_2569dup (p.Cys857LeufsTer?) c.2521_2524dup (p.Cys842LeufsTer?) c.2590_2593dup (p.Cys865LeufsTer?) c.2575_2578dup (p.Cys860LeufsTer?) c.2554_2557dup (p.Cys853LeufsTer?) c.2548_2551dup (p.Cys851LeufsTer?) c.2503_2506dup (p.Cys836LeufsTer?) c.2494_2497dup (p.Cys833LeufsTer?) c.2470_2473dup (p.Cys825LeufsTer?) c.2464_2467dup (p.Cys823LeufsTer?) c.2437_2440dup (p.Cys814LeufsTer?) c.2431_2434dup (p.Cys812LeufsTer?) c.2425_2428dup (p.Cys810LeufsTer?) c.2374_2377dup (p.Cys793LeufsTer?) c.2473_2476dup (p.Cys826LeufsTer28) c.2293_2296dup (p.Cys766LeufsTer?) c.2308-158_2308-155dup (n.2308-158_2308-155dup) c.2425_2428dup (p.Cys810LeufsTer28) c.2215_2218dup (p.Cys740LeufsTer?) c.2208+1231_2208+1234dup (n.2208+1231_2208+1234dup) c.1435_1438dup (p.Cys480LeufsTer?) n.2711_2714dup | gnomAD v4 |
17 | g.39724892G>A | CA399303841 | ERBB2 | c.2474G>A (p.Trp825Ter) c.2384G>A (p.Trp795Ter) c.1646G>A (p.Trp549Ter) c.2429G>A (p.Trp810Ter) c.*2264G>A (n.*2264G>A) c.580G>A n.3608G>A n.2798G>A c.2612G>A (p.Trp871Ter) c.2567G>A (p.Trp856Ter) c.2522G>A (p.Trp841Ter) c.2591G>A (p.Trp864Ter) c.2576G>A (p.Trp859Ter) c.2555G>A (p.Trp852Ter) c.2549G>A (p.Trp850Ter) c.2504G>A (p.Trp835Ter) c.2495G>A (p.Trp832Ter) c.2471G>A (p.Trp824Ter) c.2465G>A (p.Trp822Ter) c.2438G>A (p.Trp813Ter) c.2432G>A (p.Trp811Ter) c.2426G>A (p.Trp809Ter) c.2375G>A (p.Trp792Ter) c.2294G>A (p.Trp765Ter) c.2308-157G>A (n.2308-157G>A) c.2216G>A (p.Trp739Ter) c.2208+1232G>A (n.2208+1232G>A) c.1436G>A (p.Trp479Ter) n.2712G>A | dbSNP |
17 | g.39724892G>C | CA399303843 | ERBB2 | c.2474G>C (p.Trp825Ser) c.2384G>C (p.Trp795Ser) c.1646G>C (p.Trp549Ser) c.2429G>C (p.Trp810Ser) c.*2264G>C (n.*2264G>C) c.580G>C n.3608G>C n.2798G>C c.2612G>C (p.Trp871Ser) c.2567G>C (p.Trp856Ser) c.2522G>C (p.Trp841Ser) c.2591G>C (p.Trp864Ser) c.2576G>C (p.Trp859Ser) c.2555G>C (p.Trp852Ser) c.2549G>C (p.Trp850Ser) c.2504G>C (p.Trp835Ser) c.2495G>C (p.Trp832Ser) c.2471G>C (p.Trp824Ser) c.2465G>C (p.Trp822Ser) c.2438G>C (p.Trp813Ser) c.2432G>C (p.Trp811Ser) c.2426G>C (p.Trp809Ser) c.2375G>C (p.Trp792Ser) c.2294G>C (p.Trp765Ser) c.2308-157G>C (n.2308-157G>C) c.2216G>C (p.Trp739Ser) c.2208+1232G>C (n.2208+1232G>C) c.1436G>C (p.Trp479Ser) n.2712G>C | dbSNP |
17 | g.39724892G>T | CA399303845 | ERBB2 | c.2474G>T (p.Trp825Leu) c.2384G>T (p.Trp795Leu) c.1646G>T (p.Trp549Leu) c.2429G>T (p.Trp810Leu) c.*2264G>T (n.*2264G>T) c.580G>T n.3608G>T n.2798G>T c.2612G>T (p.Trp871Leu) c.2567G>T (p.Trp856Leu) c.2522G>T (p.Trp841Leu) c.2591G>T (p.Trp864Leu) c.2576G>T (p.Trp859Leu) c.2555G>T (p.Trp852Leu) c.2549G>T (p.Trp850Leu) c.2504G>T (p.Trp835Leu) c.2495G>T (p.Trp832Leu) c.2471G>T (p.Trp824Leu) c.2465G>T (p.Trp822Leu) c.2438G>T (p.Trp813Leu) c.2432G>T (p.Trp811Leu) c.2426G>T (p.Trp809Leu) c.2375G>T (p.Trp792Leu) c.2294G>T (p.Trp765Leu) c.2308-157G>T (n.2308-157G>T) c.2216G>T (p.Trp739Leu) c.2208+1232G>T (n.2208+1232G>T) c.1436G>T (p.Trp479Leu) n.2712G>T | dbSNP |
17 | g.39724893G>A | CA399303847 | ERBB2 | c.2475G>A (p.Trp825Ter) c.2385G>A (p.Trp795Ter) c.1647G>A (p.Trp549Ter) c.2430G>A (p.Trp810Ter) c.*2265G>A (n.*2265G>A) c.581G>A n.3609G>A n.2799G>A c.2613G>A (p.Trp871Ter) c.2568G>A (p.Trp856Ter) c.2523G>A (p.Trp841Ter) c.2592G>A (p.Trp864Ter) c.2577G>A (p.Trp859Ter) c.2556G>A (p.Trp852Ter) c.2550G>A (p.Trp850Ter) c.2505G>A (p.Trp835Ter) c.2496G>A (p.Trp832Ter) c.2472G>A (p.Trp824Ter) c.2466G>A (p.Trp822Ter) c.2439G>A (p.Trp813Ter) c.2433G>A (p.Trp811Ter) c.2427G>A (p.Trp809Ter) c.2376G>A (p.Trp792Ter) c.2295G>A (p.Trp765Ter) c.2308-156G>A (n.2308-156G>A) c.2217G>A (p.Trp739Ter) c.2208+1233G>A (n.2208+1233G>A) c.1437G>A (p.Trp479Ter) n.2713G>A | dbSNP COSMIC |
17 | g.39724893G>C | CA399303853 | ERBB2 | c.2475G>C (p.Trp825Cys) c.2385G>C (p.Trp795Cys) c.1647G>C (p.Trp549Cys) c.2430G>C (p.Trp810Cys) c.*2265G>C (n.*2265G>C) c.581G>C n.3609G>C n.2799G>C c.2613G>C (p.Trp871Cys) c.2568G>C (p.Trp856Cys) c.2523G>C (p.Trp841Cys) c.2592G>C (p.Trp864Cys) c.2577G>C (p.Trp859Cys) c.2556G>C (p.Trp852Cys) c.2550G>C (p.Trp850Cys) c.2505G>C (p.Trp835Cys) c.2496G>C (p.Trp832Cys) c.2472G>C (p.Trp824Cys) c.2466G>C (p.Trp822Cys) c.2439G>C (p.Trp813Cys) c.2433G>C (p.Trp811Cys) c.2427G>C (p.Trp809Cys) c.2376G>C (p.Trp792Cys) c.2295G>C (p.Trp765Cys) c.2308-156G>C (n.2308-156G>C) c.2217G>C (p.Trp739Cys) c.2208+1233G>C (n.2208+1233G>C) c.1437G>C (p.Trp479Cys) n.2713G>C | dbSNP |
17 | g.39724893G= | CA2259228044 | ERBB2 | c.2475G= (p.Trp825=) c.2385G= (p.Trp795=) c.1647G= (p.Trp549=) c.2430G= (p.Trp810=) c.*2265G= (n.*2265G=) c.581G= n.3609G= n.2799G= c.2613G= (p.Trp871=) c.2568G= (p.Trp856=) c.2523G= (p.Trp841=) c.2592G= (p.Trp864=) c.2577G= (p.Trp859=) c.2556G= (p.Trp852=) c.2550G= (p.Trp850=) c.2505G= (p.Trp835=) c.2496G= (p.Trp832=) c.2472G= (p.Trp824=) c.2466G= (p.Trp822=) c.2439G= (p.Trp813=) c.2433G= (p.Trp811=) c.2427G= (p.Trp809=) c.2376G= (p.Trp792=) c.2295G= (p.Trp765=) c.2308-156G= (n.2308-156G=) c.2217G= (p.Trp739=) c.2208+1233G= (n.2208+1233G=) c.1437G= (p.Trp479=) n.2713G= | |
17 | g.39724893G>T | CA399303855 | ERBB2 | c.2475G>T (p.Trp825Cys) c.2385G>T (p.Trp795Cys) c.1647G>T (p.Trp549Cys) c.2430G>T (p.Trp810Cys) c.*2265G>T (n.*2265G>T) c.581G>T n.3609G>T n.2799G>T c.2613G>T (p.Trp871Cys) c.2568G>T (p.Trp856Cys) c.2523G>T (p.Trp841Cys) c.2592G>T (p.Trp864Cys) c.2577G>T (p.Trp859Cys) c.2556G>T (p.Trp852Cys) c.2550G>T (p.Trp850Cys) c.2505G>T (p.Trp835Cys) c.2496G>T (p.Trp832Cys) c.2472G>T (p.Trp824Cys) c.2466G>T (p.Trp822Cys) c.2439G>T (p.Trp813Cys) c.2433G>T (p.Trp811Cys) c.2427G>T (p.Trp809Cys) c.2376G>T (p.Trp792Cys) c.2295G>T (p.Trp765Cys) c.2308-156G>T (n.2308-156G>T) c.2217G>T (p.Trp739Cys) c.2208+1233G>T (n.2208+1233G>T) c.1437G>T (p.Trp479Cys) n.2713G>T | dbSNP |
17 | g.39724894T>A | CA399303862 | ERBB2 | c.2476T>A (p.Cys826Ser) c.2386T>A (p.Cys796Ser) c.1648T>A (p.Cys550Ser) c.2431T>A (p.Cys811Ser) c.*2266T>A (n.*2266T>A) c.582T>A n.3610T>A n.2800T>A c.2614T>A (p.Cys872Ser) c.2569T>A (p.Cys857Ser) c.2524T>A (p.Cys842Ser) c.2593T>A (p.Cys865Ser) c.2578T>A (p.Cys860Ser) c.2557T>A (p.Cys853Ser) c.2551T>A (p.Cys851Ser) c.2506T>A (p.Cys836Ser) c.2497T>A (p.Cys833Ser) c.2473T>A (p.Cys825Ser) c.2467T>A (p.Cys823Ser) c.2440T>A (p.Cys814Ser) c.2434T>A (p.Cys812Ser) c.2428T>A (p.Cys810Ser) c.2377T>A (p.Cys793Ser) c.2296T>A (p.Cys766Ser) c.2308-155T>A (n.2308-155T>A) c.2218T>A (p.Cys740Ser) c.2208+1234T>A (n.2208+1234T>A) c.1438T>A (p.Cys480Ser) n.2714T>A | dbSNP |
17 | g.39724894T>C | CA399303863 | ERBB2 | c.2476T>C (p.Cys826Arg) c.2386T>C (p.Cys796Arg) c.1648T>C (p.Cys550Arg) c.2431T>C (p.Cys811Arg) c.*2266T>C (n.*2266T>C) c.582T>C n.3610T>C n.2800T>C c.2614T>C (p.Cys872Arg) c.2569T>C (p.Cys857Arg) c.2524T>C (p.Cys842Arg) c.2593T>C (p.Cys865Arg) c.2578T>C (p.Cys860Arg) c.2557T>C (p.Cys853Arg) c.2551T>C (p.Cys851Arg) c.2506T>C (p.Cys836Arg) c.2497T>C (p.Cys833Arg) c.2473T>C (p.Cys825Arg) c.2467T>C (p.Cys823Arg) c.2440T>C (p.Cys814Arg) c.2434T>C (p.Cys812Arg) c.2428T>C (p.Cys810Arg) c.2377T>C (p.Cys793Arg) c.2296T>C (p.Cys766Arg) c.2308-155T>C (n.2308-155T>C) c.2218T>C (p.Cys740Arg) c.2208+1234T>C (n.2208+1234T>C) c.1438T>C (p.Cys480Arg) n.2714T>C | |
17 | g.39724894T>G | CA399303866 | ERBB2 | c.2476T>G (p.Cys826Gly) c.2386T>G (p.Cys796Gly) c.1648T>G (p.Cys550Gly) c.2431T>G (p.Cys811Gly) c.*2266T>G (n.*2266T>G) c.582T>G n.3610T>G n.2800T>G c.2614T>G (p.Cys872Gly) c.2569T>G (p.Cys857Gly) c.2524T>G (p.Cys842Gly) c.2593T>G (p.Cys865Gly) c.2578T>G (p.Cys860Gly) c.2557T>G (p.Cys853Gly) c.2551T>G (p.Cys851Gly) c.2506T>G (p.Cys836Gly) c.2497T>G (p.Cys833Gly) c.2473T>G (p.Cys825Gly) c.2467T>G (p.Cys823Gly) c.2440T>G (p.Cys814Gly) c.2434T>G (p.Cys812Gly) c.2428T>G (p.Cys810Gly) c.2377T>G (p.Cys793Gly) c.2296T>G (p.Cys766Gly) c.2308-155T>G (n.2308-155T>G) c.2218T>G (p.Cys740Gly) c.2208+1234T>G (n.2208+1234T>G) c.1438T>G (p.Cys480Gly) n.2714T>G | |
17 | g.39724895G>A | CA399303869 | ERBB2 | c.2477G>A (p.Cys826Tyr) c.2387G>A (p.Cys796Tyr) c.1649G>A (p.Cys550Tyr) c.2432G>A (p.Cys811Tyr) c.*2267G>A (n.*2267G>A) c.583G>A n.3611G>A n.2801G>A c.2615G>A (p.Cys872Tyr) c.2570G>A (p.Cys857Tyr) c.2525G>A (p.Cys842Tyr) c.2594G>A (p.Cys865Tyr) c.2579G>A (p.Cys860Tyr) c.2558G>A (p.Cys853Tyr) c.2552G>A (p.Cys851Tyr) c.2507G>A (p.Cys836Tyr) c.2498G>A (p.Cys833Tyr) c.2474G>A (p.Cys825Tyr) c.2468G>A (p.Cys823Tyr) c.2441G>A (p.Cys814Tyr) c.2435G>A (p.Cys812Tyr) c.2429G>A (p.Cys810Tyr) c.2378G>A (p.Cys793Tyr) c.2297G>A (p.Cys766Tyr) c.2308-154G>A (n.2308-154G>A) c.2219G>A (p.Cys740Tyr) c.2208+1235G>A (n.2208+1235G>A) c.1439G>A (p.Cys480Tyr) n.2715G>A | dbSNP |
17 | g.39724895G>C | CA399303872 | ERBB2 | c.2477G>C (p.Cys826Ser) c.2387G>C (p.Cys796Ser) c.1649G>C (p.Cys550Ser) c.2432G>C (p.Cys811Ser) c.*2267G>C (n.*2267G>C) c.583G>C n.3611G>C n.2801G>C c.2615G>C (p.Cys872Ser) c.2570G>C (p.Cys857Ser) c.2525G>C (p.Cys842Ser) c.2594G>C (p.Cys865Ser) c.2579G>C (p.Cys860Ser) c.2558G>C (p.Cys853Ser) c.2552G>C (p.Cys851Ser) c.2507G>C (p.Cys836Ser) c.2498G>C (p.Cys833Ser) c.2474G>C (p.Cys825Ser) c.2468G>C (p.Cys823Ser) c.2441G>C (p.Cys814Ser) c.2435G>C (p.Cys812Ser) c.2429G>C (p.Cys810Ser) c.2378G>C (p.Cys793Ser) c.2297G>C (p.Cys766Ser) c.2308-154G>C (n.2308-154G>C) c.2219G>C (p.Cys740Ser) c.2208+1235G>C (n.2208+1235G>C) c.1439G>C (p.Cys480Ser) n.2715G>C | dbSNP |
17 | g.39724895G>T | CA399303873 | ERBB2 | c.2477G>T (p.Cys826Phe) c.2387G>T (p.Cys796Phe) c.1649G>T (p.Cys550Phe) c.2432G>T (p.Cys811Phe) c.*2267G>T (n.*2267G>T) c.583G>T n.3611G>T n.2801G>T c.2615G>T (p.Cys872Phe) c.2570G>T (p.Cys857Phe) c.2525G>T (p.Cys842Phe) c.2594G>T (p.Cys865Phe) c.2579G>T (p.Cys860Phe) c.2558G>T (p.Cys853Phe) c.2552G>T (p.Cys851Phe) c.2507G>T (p.Cys836Phe) c.2498G>T (p.Cys833Phe) c.2474G>T (p.Cys825Phe) c.2468G>T (p.Cys823Phe) c.2441G>T (p.Cys814Phe) c.2435G>T (p.Cys812Phe) c.2429G>T (p.Cys810Phe) c.2378G>T (p.Cys793Phe) c.2297G>T (p.Cys766Phe) c.2308-154G>T (n.2308-154G>T) c.2219G>T (p.Cys740Phe) c.2208+1235G>T (n.2208+1235G>T) c.1439G>T (p.Cys480Phe) n.2715G>T | |
17 | g.39724896T>A | CA399303877 | ERBB2 | c.2478T>A (p.Cys826Ter) c.2388T>A (p.Cys796Ter) c.1650T>A (p.Cys550Ter) c.2433T>A (p.Cys811Ter) c.*2268T>A (n.*2268T>A) c.584T>A n.3612T>A n.2802T>A c.2616T>A (p.Cys872Ter) c.2571T>A (p.Cys857Ter) c.2526T>A (p.Cys842Ter) c.2595T>A (p.Cys865Ter) c.2580T>A (p.Cys860Ter) c.2559T>A (p.Cys853Ter) c.2553T>A (p.Cys851Ter) c.2508T>A (p.Cys836Ter) c.2499T>A (p.Cys833Ter) c.2475T>A (p.Cys825Ter) c.2469T>A (p.Cys823Ter) c.2442T>A (p.Cys814Ter) c.2436T>A (p.Cys812Ter) c.2430T>A (p.Cys810Ter) c.2379T>A (p.Cys793Ter) c.2298T>A (p.Cys766Ter) c.2308-153T>A (n.2308-153T>A) c.2220T>A (p.Cys740Ter) c.2208+1236T>A (n.2208+1236T>A) c.1440T>A (p.Cys480Ter) n.2716T>A | dbSNP |
17 | g.39724896T>C | CA499890041 | ERBB2 | c.2478T>C (p.Cys826=) c.2388T>C (p.Cys796=) c.1650T>C (p.Cys550=) c.2433T>C (p.Cys811=) c.*2268T>C (n.*2268T>C) c.584T>C n.3612T>C n.2802T>C c.2616T>C (p.Cys872=) c.2571T>C (p.Cys857=) c.2526T>C (p.Cys842=) c.2595T>C (p.Cys865=) c.2580T>C (p.Cys860=) c.2559T>C (p.Cys853=) c.2553T>C (p.Cys851=) c.2508T>C (p.Cys836=) c.2499T>C (p.Cys833=) c.2475T>C (p.Cys825=) c.2469T>C (p.Cys823=) c.2442T>C (p.Cys814=) c.2436T>C (p.Cys812=) c.2430T>C (p.Cys810=) c.2379T>C (p.Cys793=) c.2298T>C (p.Cys766=) c.2308-153T>C (n.2308-153T>C) c.2220T>C (p.Cys740=) c.2208+1236T>C (n.2208+1236T>C) c.1440T>C (p.Cys480=) n.2716T>C | |
17 | g.39724896T>G | CA399303880 | ERBB2 | c.2478T>G (p.Cys826Trp) c.2388T>G (p.Cys796Trp) c.1650T>G (p.Cys550Trp) c.2433T>G (p.Cys811Trp) c.*2268T>G (n.*2268T>G) c.584T>G n.3612T>G n.2802T>G c.2616T>G (p.Cys872Trp) c.2571T>G (p.Cys857Trp) c.2526T>G (p.Cys842Trp) c.2595T>G (p.Cys865Trp) c.2580T>G (p.Cys860Trp) c.2559T>G (p.Cys853Trp) c.2553T>G (p.Cys851Trp) c.2508T>G (p.Cys836Trp) c.2499T>G (p.Cys833Trp) c.2475T>G (p.Cys825Trp) c.2469T>G (p.Cys823Trp) c.2442T>G (p.Cys814Trp) c.2436T>G (p.Cys812Trp) c.2430T>G (p.Cys810Trp) c.2379T>G (p.Cys793Trp) c.2298T>G (p.Cys766Trp) c.2308-153T>G (n.2308-153T>G) c.2220T>G (p.Cys740Trp) c.2208+1236T>G (n.2208+1236T>G) c.1440T>G (p.Cys480Trp) n.2716T>G | dbSNP |
17 | g.39724897A>C | CA399303882 | ERBB2 | c.2479A>C (p.Met827Leu) c.2389A>C (p.Met797Leu) c.1651A>C (p.Met551Leu) c.2434A>C (p.Met812Leu) c.*2269A>C (n.*2269A>C) c.585A>C n.3613A>C n.2803A>C c.2617A>C (p.Met873Leu) c.2572A>C (p.Met858Leu) c.2527A>C (p.Met843Leu) c.2596A>C (p.Met866Leu) c.2581A>C (p.Met861Leu) c.2560A>C (p.Met854Leu) c.2554A>C (p.Met852Leu) c.2509A>C (p.Met837Leu) c.2500A>C (p.Met834Leu) c.2476A>C (p.Met826Leu) c.2470A>C (p.Met824Leu) c.2443A>C (p.Met815Leu) c.2437A>C (p.Met813Leu) c.2431A>C (p.Met811Leu) c.2380A>C (p.Met794Leu) c.2299A>C (p.Met767Leu) c.2308-152A>C (n.2308-152A>C) c.2221A>C (p.Met741Leu) c.2208+1237A>C (n.2208+1237A>C) c.1441A>C (p.Met481Leu) n.2717A>C | ClinVar dbSNP |
17 | g.39724897A>G | CA399303888 | ERBB2 | c.2479A>G (p.Met827Val) c.2389A>G (p.Met797Val) c.1651A>G (p.Met551Val) c.2434A>G (p.Met812Val) c.*2269A>G (n.*2269A>G) c.585A>G n.3613A>G n.2803A>G c.2617A>G (p.Met873Val) c.2572A>G (p.Met858Val) c.2527A>G (p.Met843Val) c.2596A>G (p.Met866Val) c.2581A>G (p.Met861Val) c.2560A>G (p.Met854Val) c.2554A>G (p.Met852Val) c.2509A>G (p.Met837Val) c.2500A>G (p.Met834Val) c.2476A>G (p.Met826Val) c.2470A>G (p.Met824Val) c.2443A>G (p.Met815Val) c.2437A>G (p.Met813Val) c.2431A>G (p.Met811Val) c.2380A>G (p.Met794Val) c.2299A>G (p.Met767Val) c.2308-152A>G (n.2308-152A>G) c.2221A>G (p.Met741Val) c.2208+1237A>G (n.2208+1237A>G) c.1441A>G (p.Met481Val) n.2717A>G | gnomAD v4 |
17 | g.39724897A>T | CA399303891 | ERBB2 | c.2479A>T (p.Met827Leu) c.2389A>T (p.Met797Leu) c.1651A>T (p.Met551Leu) c.2434A>T (p.Met812Leu) c.*2269A>T (n.*2269A>T) c.585A>T n.3613A>T n.2803A>T c.2617A>T (p.Met873Leu) c.2572A>T (p.Met858Leu) c.2527A>T (p.Met843Leu) c.2596A>T (p.Met866Leu) c.2581A>T (p.Met861Leu) c.2560A>T (p.Met854Leu) c.2554A>T (p.Met852Leu) c.2509A>T (p.Met837Leu) c.2500A>T (p.Met834Leu) c.2476A>T (p.Met826Leu) c.2470A>T (p.Met824Leu) c.2443A>T (p.Met815Leu) c.2437A>T (p.Met813Leu) c.2431A>T (p.Met811Leu) c.2380A>T (p.Met794Leu) c.2299A>T (p.Met767Leu) c.2308-152A>T (n.2308-152A>T) c.2221A>T (p.Met741Leu) c.2208+1237A>T (n.2208+1237A>T) c.1441A>T (p.Met481Leu) n.2717A>T | |
17 | g.39724898T>A | CA399303894 | ERBB2 | c.2480T>A (p.Met827Lys) c.2390T>A (p.Met797Lys) c.1652T>A (p.Met551Lys) c.2435T>A (p.Met812Lys) c.*2270T>A (n.*2270T>A) c.586T>A n.3614T>A n.2804T>A c.2618T>A (p.Met873Lys) c.2573T>A (p.Met858Lys) c.2528T>A (p.Met843Lys) c.2597T>A (p.Met866Lys) c.2582T>A (p.Met861Lys) c.2561T>A (p.Met854Lys) c.2555T>A (p.Met852Lys) c.2510T>A (p.Met837Lys) c.2501T>A (p.Met834Lys) c.2477T>A (p.Met826Lys) c.2471T>A (p.Met824Lys) c.2444T>A (p.Met815Lys) c.2438T>A (p.Met813Lys) c.2432T>A (p.Met811Lys) c.2381T>A (p.Met794Lys) c.2300T>A (p.Met767Lys) c.2308-151T>A (n.2308-151T>A) c.2222T>A (p.Met741Lys) c.2208+1238T>A (n.2208+1238T>A) c.1442T>A (p.Met481Lys) n.2718T>A | dbSNP |
17 | g.39724898T>C | CA399303899 | ERBB2 | c.2480T>C (p.Met827Thr) c.2390T>C (p.Met797Thr) c.1652T>C (p.Met551Thr) c.2435T>C (p.Met812Thr) c.*2270T>C (n.*2270T>C) c.586T>C n.3614T>C n.2804T>C c.2618T>C (p.Met873Thr) c.2573T>C (p.Met858Thr) c.2528T>C (p.Met843Thr) c.2597T>C (p.Met866Thr) c.2582T>C (p.Met861Thr) c.2561T>C (p.Met854Thr) c.2555T>C (p.Met852Thr) c.2510T>C (p.Met837Thr) c.2501T>C (p.Met834Thr) c.2477T>C (p.Met826Thr) c.2471T>C (p.Met824Thr) c.2444T>C (p.Met815Thr) c.2438T>C (p.Met813Thr) c.2432T>C (p.Met811Thr) c.2381T>C (p.Met794Thr) c.2300T>C (p.Met767Thr) c.2308-151T>C (n.2308-151T>C) c.2222T>C (p.Met741Thr) c.2208+1238T>C (n.2208+1238T>C) c.1442T>C (p.Met481Thr) n.2718T>C | dbSNP |
17 | g.39724898T>G | CA399303900 | ERBB2 | c.2480T>G (p.Met827Arg) c.2390T>G (p.Met797Arg) c.1652T>G (p.Met551Arg) c.2435T>G (p.Met812Arg) c.*2270T>G (n.*2270T>G) c.586T>G n.3614T>G n.2804T>G c.2618T>G (p.Met873Arg) c.2573T>G (p.Met858Arg) c.2528T>G (p.Met843Arg) c.2597T>G (p.Met866Arg) c.2582T>G (p.Met861Arg) c.2561T>G (p.Met854Arg) c.2555T>G (p.Met852Arg) c.2510T>G (p.Met837Arg) c.2501T>G (p.Met834Arg) c.2477T>G (p.Met826Arg) c.2471T>G (p.Met824Arg) c.2444T>G (p.Met815Arg) c.2438T>G (p.Met813Arg) c.2432T>G (p.Met811Arg) c.2381T>G (p.Met794Arg) c.2300T>G (p.Met767Arg) c.2308-151T>G (n.2308-151T>G) c.2222T>G (p.Met741Arg) c.2208+1238T>G (n.2208+1238T>G) c.1442T>G (p.Met481Arg) n.2718T>G | dbSNP |
17 | g.39724899G>A | CA399303902 | ERBB2 | c.2481G>A (p.Met827Ile) c.2391G>A (p.Met797Ile) c.1653G>A (p.Met551Ile) c.2436G>A (p.Met812Ile) c.*2271G>A (n.*2271G>A) c.587G>A n.3615G>A n.2805G>A c.2619G>A (p.Met873Ile) c.2574G>A (p.Met858Ile) c.2529G>A (p.Met843Ile) c.2598G>A (p.Met866Ile) c.2583G>A (p.Met861Ile) c.2562G>A (p.Met854Ile) c.2556G>A (p.Met852Ile) c.2511G>A (p.Met837Ile) c.2502G>A (p.Met834Ile) c.2478G>A (p.Met826Ile) c.2472G>A (p.Met824Ile) c.2445G>A (p.Met815Ile) c.2439G>A (p.Met813Ile) c.2433G>A (p.Met811Ile) c.2382G>A (p.Met794Ile) c.2301G>A (p.Met767Ile) c.2308-150G>A (n.2308-150G>A) c.2223G>A (p.Met741Ile) c.2208+1239G>A (n.2208+1239G>A) c.1443G>A (p.Met481Ile) n.2719G>A | dbSNP |
17 | g.39724899G>C | CA399303905 | ERBB2 | c.2481G>C (p.Met827Ile) c.2391G>C (p.Met797Ile) c.1653G>C (p.Met551Ile) c.2436G>C (p.Met812Ile) c.*2271G>C (n.*2271G>C) c.587G>C n.3615G>C n.2805G>C c.2619G>C (p.Met873Ile) c.2574G>C (p.Met858Ile) c.2529G>C (p.Met843Ile) c.2598G>C (p.Met866Ile) c.2583G>C (p.Met861Ile) c.2562G>C (p.Met854Ile) c.2556G>C (p.Met852Ile) c.2511G>C (p.Met837Ile) c.2502G>C (p.Met834Ile) c.2478G>C (p.Met826Ile) c.2472G>C (p.Met824Ile) c.2445G>C (p.Met815Ile) c.2439G>C (p.Met813Ile) c.2433G>C (p.Met811Ile) c.2382G>C (p.Met794Ile) c.2301G>C (p.Met767Ile) c.2308-150G>C (n.2308-150G>C) c.2223G>C (p.Met741Ile) c.2208+1239G>C (n.2208+1239G>C) c.1443G>C (p.Met481Ile) n.2719G>C | dbSNP |
17 | g.39724899G>T | CA399303906 | ERBB2 | c.2481G>T (p.Met827Ile) c.2391G>T (p.Met797Ile) c.1653G>T (p.Met551Ile) c.2436G>T (p.Met812Ile) c.*2271G>T (n.*2271G>T) c.587G>T n.3615G>T n.2805G>T c.2619G>T (p.Met873Ile) c.2574G>T (p.Met858Ile) c.2529G>T (p.Met843Ile) c.2598G>T (p.Met866Ile) c.2583G>T (p.Met861Ile) c.2562G>T (p.Met854Ile) c.2556G>T (p.Met852Ile) c.2511G>T (p.Met837Ile) c.2502G>T (p.Met834Ile) c.2478G>T (p.Met826Ile) c.2472G>T (p.Met824Ile) c.2445G>T (p.Met815Ile) c.2439G>T (p.Met813Ile) c.2433G>T (p.Met811Ile) c.2382G>T (p.Met794Ile) c.2301G>T (p.Met767Ile) c.2308-150G>T (n.2308-150G>T) c.2223G>T (p.Met741Ile) c.2208+1239G>T (n.2208+1239G>T) c.1443G>T (p.Met481Ile) n.2719G>T | |
17 | g.39724900C>A | CA399303907 | ERBB2 | c.2482C>A (p.Gln828Lys) c.2392C>A (p.Gln798Lys) c.1654C>A (p.Gln552Lys) c.2437C>A (p.Gln813Lys) c.*2272C>A (n.*2272C>A) c.588C>A n.3616C>A n.2806C>A c.2620C>A (p.Gln874Lys) c.2575C>A (p.Gln859Lys) c.2530C>A (p.Gln844Lys) c.2599C>A (p.Gln867Lys) c.2584C>A (p.Gln862Lys) c.2563C>A (p.Gln855Lys) c.2557C>A (p.Gln853Lys) c.2512C>A (p.Gln838Lys) c.2503C>A (p.Gln835Lys) c.2479C>A (p.Gln827Lys) c.2473C>A (p.Gln825Lys) c.2446C>A (p.Gln816Lys) c.2440C>A (p.Gln814Lys) c.2434C>A (p.Gln812Lys) c.2383C>A (p.Gln795Lys) c.2302C>A (p.Gln768Lys) c.2308-149C>A (n.2308-149C>A) c.2224C>A (p.Gln742Lys) c.2208+1240C>A (n.2208+1240C>A) c.1444C>A (p.Gln482Lys) n.2720C>A | dbSNP |
17 | g.39724900C>G | CA399303908 | ERBB2 | c.2482C>G (p.Gln828Glu) c.2392C>G (p.Gln798Glu) c.1654C>G (p.Gln552Glu) c.2437C>G (p.Gln813Glu) c.*2272C>G (n.*2272C>G) c.588C>G n.3616C>G n.2806C>G c.2620C>G (p.Gln874Glu) c.2575C>G (p.Gln859Glu) c.2530C>G (p.Gln844Glu) c.2599C>G (p.Gln867Glu) c.2584C>G (p.Gln862Glu) c.2563C>G (p.Gln855Glu) c.2557C>G (p.Gln853Glu) c.2512C>G (p.Gln838Glu) c.2503C>G (p.Gln835Glu) c.2479C>G (p.Gln827Glu) c.2473C>G (p.Gln825Glu) c.2446C>G (p.Gln816Glu) c.2440C>G (p.Gln814Glu) c.2434C>G (p.Gln812Glu) c.2383C>G (p.Gln795Glu) c.2302C>G (p.Gln768Glu) c.2308-149C>G (n.2308-149C>G) c.2224C>G (p.Gln742Glu) c.2208+1240C>G (n.2208+1240C>G) c.1444C>G (p.Gln482Glu) n.2720C>G | dbSNP |
17 | g.39724900C>T | CA399303911 | ERBB2 | c.2482C>T (p.Gln828Ter) c.2392C>T (p.Gln798Ter) c.1654C>T (p.Gln552Ter) c.2437C>T (p.Gln813Ter) c.*2272C>T (n.*2272C>T) c.588C>T n.3616C>T n.2806C>T c.2620C>T (p.Gln874Ter) c.2575C>T (p.Gln859Ter) c.2530C>T (p.Gln844Ter) c.2599C>T (p.Gln867Ter) c.2584C>T (p.Gln862Ter) c.2563C>T (p.Gln855Ter) c.2557C>T (p.Gln853Ter) c.2512C>T (p.Gln838Ter) c.2503C>T (p.Gln835Ter) c.2479C>T (p.Gln827Ter) c.2473C>T (p.Gln825Ter) c.2446C>T (p.Gln816Ter) c.2440C>T (p.Gln814Ter) c.2434C>T (p.Gln812Ter) c.2383C>T (p.Gln795Ter) c.2302C>T (p.Gln768Ter) c.2308-149C>T (n.2308-149C>T) c.2224C>T (p.Gln742Ter) c.2208+1240C>T (n.2208+1240C>T) c.1444C>T (p.Gln482Ter) n.2720C>T | dbSNP |
17 | g.39724901A>C | CA399303921 | ERBB2 | c.2483A>C (p.Gln828Pro) c.2393A>C (p.Gln798Pro) c.1655A>C (p.Gln552Pro) c.2438A>C (p.Gln813Pro) c.*2273A>C (n.*2273A>C) c.589A>C n.3617A>C n.2807A>C c.2621A>C (p.Gln874Pro) c.2576A>C (p.Gln859Pro) c.2531A>C (p.Gln844Pro) c.2600A>C (p.Gln867Pro) c.2585A>C (p.Gln862Pro) c.2564A>C (p.Gln855Pro) c.2558A>C (p.Gln853Pro) c.2513A>C (p.Gln838Pro) c.2504A>C (p.Gln835Pro) c.2480A>C (p.Gln827Pro) c.2474A>C (p.Gln825Pro) c.2447A>C (p.Gln816Pro) c.2441A>C (p.Gln814Pro) c.2435A>C (p.Gln812Pro) c.2384A>C (p.Gln795Pro) c.2303A>C (p.Gln768Pro) c.2308-148A>C (n.2308-148A>C) c.2225A>C (p.Gln742Pro) c.2208+1241A>C (n.2208+1241A>C) c.1445A>C (p.Gln482Pro) n.2721A>C | |
17 | g.39724901A>G | CA399303930 | ERBB2 | c.2483A>G (p.Gln828Arg) c.2393A>G (p.Gln798Arg) c.1655A>G (p.Gln552Arg) c.2438A>G (p.Gln813Arg) c.*2273A>G (n.*2273A>G) c.589A>G n.3617A>G n.2807A>G c.2621A>G (p.Gln874Arg) c.2576A>G (p.Gln859Arg) c.2531A>G (p.Gln844Arg) c.2600A>G (p.Gln867Arg) c.2585A>G (p.Gln862Arg) c.2564A>G (p.Gln855Arg) c.2558A>G (p.Gln853Arg) c.2513A>G (p.Gln838Arg) c.2504A>G (p.Gln835Arg) c.2480A>G (p.Gln827Arg) c.2474A>G (p.Gln825Arg) c.2447A>G (p.Gln816Arg) c.2441A>G (p.Gln814Arg) c.2435A>G (p.Gln812Arg) c.2384A>G (p.Gln795Arg) c.2303A>G (p.Gln768Arg) c.2308-148A>G (n.2308-148A>G) c.2225A>G (p.Gln742Arg) c.2208+1241A>G (n.2208+1241A>G) c.1445A>G (p.Gln482Arg) n.2721A>G | dbSNP |
17 | g.39724901A>T | CA399303923 | ERBB2 | c.2483A>T (p.Gln828Leu) c.2393A>T (p.Gln798Leu) c.1655A>T (p.Gln552Leu) c.2438A>T (p.Gln813Leu) c.*2273A>T (n.*2273A>T) c.589A>T n.3617A>T n.2807A>T c.2621A>T (p.Gln874Leu) c.2576A>T (p.Gln859Leu) c.2531A>T (p.Gln844Leu) c.2600A>T (p.Gln867Leu) c.2585A>T (p.Gln862Leu) c.2564A>T (p.Gln855Leu) c.2558A>T (p.Gln853Leu) c.2513A>T (p.Gln838Leu) c.2504A>T (p.Gln835Leu) c.2480A>T (p.Gln827Leu) c.2474A>T (p.Gln825Leu) c.2447A>T (p.Gln816Leu) c.2441A>T (p.Gln814Leu) c.2435A>T (p.Gln812Leu) c.2384A>T (p.Gln795Leu) c.2303A>T (p.Gln768Leu) c.2308-148A>T (n.2308-148A>T) c.2225A>T (p.Gln742Leu) c.2208+1241A>T (n.2208+1241A>T) c.1445A>T (p.Gln482Leu) n.2721A>T | dbSNP |
17 | g.39724902G>A | CA499890042 | ERBB2 | c.2484G>A (p.Gln828=) c.2394G>A (p.Gln798=) c.1656G>A (p.Gln552=) c.2439G>A (p.Gln813=) c.*2274G>A (n.*2274G>A) c.590G>A n.3618G>A n.2808G>A c.2622G>A (p.Gln874=) c.2577G>A (p.Gln859=) c.2532G>A (p.Gln844=) c.2601G>A (p.Gln867=) c.2586G>A (p.Gln862=) c.2565G>A (p.Gln855=) c.2559G>A (p.Gln853=) c.2514G>A (p.Gln838=) c.2505G>A (p.Gln835=) c.2481G>A (p.Gln827=) c.2475G>A (p.Gln825=) c.2448G>A (p.Gln816=) c.2442G>A (p.Gln814=) c.2436G>A (p.Gln812=) c.2385G>A (p.Gln795=) c.2304G>A (p.Gln768=) c.2308-147G>A (n.2308-147G>A) c.2226G>A (p.Gln742=) c.2208+1242G>A (n.2208+1242G>A) c.1446G>A (p.Gln482=) n.2722G>A | dbSNP COSMIC |
17 | g.39724902G>C | CA8534305 | ERBB2 | c.2484G>C (p.Gln828His) c.2394G>C (p.Gln798His) c.1656G>C (p.Gln552His) c.2439G>C (p.Gln813His) c.*2274G>C (n.*2274G>C) c.590G>C n.3618G>C n.2808G>C c.2622G>C (p.Gln874His) c.2577G>C (p.Gln859His) c.2532G>C (p.Gln844His) c.2601G>C (p.Gln867His) c.2586G>C (p.Gln862His) c.2565G>C (p.Gln855His) c.2559G>C (p.Gln853His) c.2514G>C (p.Gln838His) c.2505G>C (p.Gln835His) c.2481G>C (p.Gln827His) c.2475G>C (p.Gln825His) c.2448G>C (p.Gln816His) c.2442G>C (p.Gln814His) c.2436G>C (p.Gln812His) c.2385G>C (p.Gln795His) c.2304G>C (p.Gln768His) c.2308-147G>C (n.2308-147G>C) c.2226G>C (p.Gln742His) c.2208+1242G>C (n.2208+1242G>C) c.1446G>C (p.Gln482His) n.2722G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724902G= | CA2259228045 | ERBB2 | c.2484G= (p.Gln828=) c.2394G= (p.Gln798=) c.1656G= (p.Gln552=) c.2439G= (p.Gln813=) c.*2274G= (n.*2274G=) c.590G= n.3618G= n.2808G= c.2622G= (p.Gln874=) c.2577G= (p.Gln859=) c.2532G= (p.Gln844=) c.2601G= (p.Gln867=) c.2586G= (p.Gln862=) c.2565G= (p.Gln855=) c.2559G= (p.Gln853=) c.2514G= (p.Gln838=) c.2505G= (p.Gln835=) c.2481G= (p.Gln827=) c.2475G= (p.Gln825=) c.2448G= (p.Gln816=) c.2442G= (p.Gln814=) c.2436G= (p.Gln812=) c.2385G= (p.Gln795=) c.2304G= (p.Gln768=) c.2308-147G= (n.2308-147G=) c.2226G= (p.Gln742=) c.2208+1242G= (n.2208+1242G=) c.1446G= (p.Gln482=) n.2722G= | |
17 | g.39724902G>T | CA399303934 | ERBB2 | c.2484G>T (p.Gln828His) c.2394G>T (p.Gln798His) c.1656G>T (p.Gln552His) c.2439G>T (p.Gln813His) c.*2274G>T (n.*2274G>T) c.590G>T n.3618G>T n.2808G>T c.2622G>T (p.Gln874His) c.2577G>T (p.Gln859His) c.2532G>T (p.Gln844His) c.2601G>T (p.Gln867His) c.2586G>T (p.Gln862His) c.2565G>T (p.Gln855His) c.2559G>T (p.Gln853His) c.2514G>T (p.Gln838His) c.2505G>T (p.Gln835His) c.2481G>T (p.Gln827His) c.2475G>T (p.Gln825His) c.2448G>T (p.Gln816His) c.2442G>T (p.Gln814His) c.2436G>T (p.Gln812His) c.2385G>T (p.Gln795His) c.2304G>T (p.Gln768His) c.2308-147G>T (n.2308-147G>T) c.2226G>T (p.Gln742His) c.2208+1242G>T (n.2208+1242G>T) c.1446G>T (p.Gln482His) n.2722G>T | |
17 | g.39724903A>C | CA399303935 | ERBB2 | c.2485A>C (p.Ile829Leu) c.2395A>C (p.Ile799Leu) c.1657A>C (p.Ile553Leu) c.2440A>C (p.Ile814Leu) c.*2275A>C (n.*2275A>C) c.591A>C n.3619A>C n.2809A>C c.2623A>C (p.Ile875Leu) c.2578A>C (p.Ile860Leu) c.2533A>C (p.Ile845Leu) c.2602A>C (p.Ile868Leu) c.2587A>C (p.Ile863Leu) c.2566A>C (p.Ile856Leu) c.2560A>C (p.Ile854Leu) c.2515A>C (p.Ile839Leu) c.2506A>C (p.Ile836Leu) c.2482A>C (p.Ile828Leu) c.2476A>C (p.Ile826Leu) c.2449A>C (p.Ile817Leu) c.2443A>C (p.Ile815Leu) c.2437A>C (p.Ile813Leu) c.2386A>C (p.Ile796Leu) c.2305A>C (p.Ile769Leu) c.2308-146A>C (n.2308-146A>C) c.2227A>C (p.Ile743Leu) c.2208+1243A>C (n.2208+1243A>C) c.1447A>C (p.Ile483Leu) n.2723A>C | dbSNP |
17 | g.39724903A>G | CA399303936 | ERBB2 | c.2485A>G (p.Ile829Val) c.2395A>G (p.Ile799Val) c.1657A>G (p.Ile553Val) c.2440A>G (p.Ile814Val) c.*2275A>G (n.*2275A>G) c.591A>G n.3619A>G n.2809A>G c.2623A>G (p.Ile875Val) c.2578A>G (p.Ile860Val) c.2533A>G (p.Ile845Val) c.2602A>G (p.Ile868Val) c.2587A>G (p.Ile863Val) c.2566A>G (p.Ile856Val) c.2560A>G (p.Ile854Val) c.2515A>G (p.Ile839Val) c.2506A>G (p.Ile836Val) c.2482A>G (p.Ile828Val) c.2476A>G (p.Ile826Val) c.2449A>G (p.Ile817Val) c.2443A>G (p.Ile815Val) c.2437A>G (p.Ile813Val) c.2386A>G (p.Ile796Val) c.2305A>G (p.Ile769Val) c.2308-146A>G (n.2308-146A>G) c.2227A>G (p.Ile743Val) c.2208+1243A>G (n.2208+1243A>G) c.1447A>G (p.Ile483Val) n.2723A>G | dbSNP |
17 | g.39724903A>T | CA399303938 | ERBB2 | c.2485A>T (p.Ile829Phe) c.2395A>T (p.Ile799Phe) c.1657A>T (p.Ile553Phe) c.2440A>T (p.Ile814Phe) c.*2275A>T (n.*2275A>T) c.591A>T n.3619A>T n.2809A>T c.2623A>T (p.Ile875Phe) c.2578A>T (p.Ile860Phe) c.2533A>T (p.Ile845Phe) c.2602A>T (p.Ile868Phe) c.2587A>T (p.Ile863Phe) c.2566A>T (p.Ile856Phe) c.2560A>T (p.Ile854Phe) c.2515A>T (p.Ile839Phe) c.2506A>T (p.Ile836Phe) c.2482A>T (p.Ile828Phe) c.2476A>T (p.Ile826Phe) c.2449A>T (p.Ile817Phe) c.2443A>T (p.Ile815Phe) c.2437A>T (p.Ile813Phe) c.2386A>T (p.Ile796Phe) c.2305A>T (p.Ile769Phe) c.2308-146A>T (n.2308-146A>T) c.2227A>T (p.Ile743Phe) c.2208+1243A>T (n.2208+1243A>T) c.1447A>T (p.Ile483Phe) n.2723A>T | dbSNP |
17 | g.39724904T>A | CA399303942 | ERBB2 | c.2486T>A (p.Ile829Asn) c.2396T>A (p.Ile799Asn) c.1658T>A (p.Ile553Asn) c.2441T>A (p.Ile814Asn) c.*2276T>A (n.*2276T>A) c.592T>A n.3620T>A n.2810T>A c.2624T>A (p.Ile875Asn) c.2579T>A (p.Ile860Asn) c.2534T>A (p.Ile845Asn) c.2603T>A (p.Ile868Asn) c.2588T>A (p.Ile863Asn) c.2567T>A (p.Ile856Asn) c.2561T>A (p.Ile854Asn) c.2516T>A (p.Ile839Asn) c.2507T>A (p.Ile836Asn) c.2483T>A (p.Ile828Asn) c.2477T>A (p.Ile826Asn) c.2450T>A (p.Ile817Asn) c.2444T>A (p.Ile815Asn) c.2438T>A (p.Ile813Asn) c.2387T>A (p.Ile796Asn) c.2306T>A (p.Ile769Asn) c.2308-145T>A (n.2308-145T>A) c.2228T>A (p.Ile743Asn) c.2208+1244T>A (n.2208+1244T>A) c.1448T>A (p.Ile483Asn) n.2724T>A | dbSNP |
17 | g.39724904T>C | CA399303943 | ERBB2 | c.2486T>C (p.Ile829Thr) c.2396T>C (p.Ile799Thr) c.1658T>C (p.Ile553Thr) c.2441T>C (p.Ile814Thr) c.*2276T>C (n.*2276T>C) c.592T>C n.3620T>C n.2810T>C c.2624T>C (p.Ile875Thr) c.2579T>C (p.Ile860Thr) c.2534T>C (p.Ile845Thr) c.2603T>C (p.Ile868Thr) c.2588T>C (p.Ile863Thr) c.2567T>C (p.Ile856Thr) c.2561T>C (p.Ile854Thr) c.2516T>C (p.Ile839Thr) c.2507T>C (p.Ile836Thr) c.2483T>C (p.Ile828Thr) c.2477T>C (p.Ile826Thr) c.2450T>C (p.Ile817Thr) c.2444T>C (p.Ile815Thr) c.2438T>C (p.Ile813Thr) c.2387T>C (p.Ile796Thr) c.2306T>C (p.Ile769Thr) c.2308-145T>C (n.2308-145T>C) c.2228T>C (p.Ile743Thr) c.2208+1244T>C (n.2208+1244T>C) c.1448T>C (p.Ile483Thr) n.2724T>C | dbSNP |
17 | g.39724904T>G | CA399303946 | ERBB2 | c.2486T>G (p.Ile829Ser) c.2396T>G (p.Ile799Ser) c.1658T>G (p.Ile553Ser) c.2441T>G (p.Ile814Ser) c.*2276T>G (n.*2276T>G) c.592T>G n.3620T>G n.2810T>G c.2624T>G (p.Ile875Ser) c.2579T>G (p.Ile860Ser) c.2534T>G (p.Ile845Ser) c.2603T>G (p.Ile868Ser) c.2588T>G (p.Ile863Ser) c.2567T>G (p.Ile856Ser) c.2561T>G (p.Ile854Ser) c.2516T>G (p.Ile839Ser) c.2507T>G (p.Ile836Ser) c.2483T>G (p.Ile828Ser) c.2477T>G (p.Ile826Ser) c.2450T>G (p.Ile817Ser) c.2444T>G (p.Ile815Ser) c.2438T>G (p.Ile813Ser) c.2387T>G (p.Ile796Ser) c.2306T>G (p.Ile769Ser) c.2308-145T>G (n.2308-145T>G) c.2228T>G (p.Ile743Ser) c.2208+1244T>G (n.2208+1244T>G) c.1448T>G (p.Ile483Ser) n.2724T>G | dbSNP |
17 | g.39724905del | CA2637621788 | ERBB2 | c.2487del (p.Ile829MetfsTer5) c.2397del (p.Ile799MetfsTer5) c.1659del (p.Ile553MetfsTer5) c.2442del (p.Ile814MetfsTer5) c.*2277del (n.*2277del) c.593del n.3621del n.2811del c.2625del (p.Ile875MetfsTer5) c.2580del (p.Ile860MetfsTer5) c.2535del (p.Ile845MetfsTer5) c.2604del (p.Ile868MetfsTer5) c.2589del (p.Ile863MetfsTer5) c.2568del (p.Ile856MetfsTer5) c.2562del (p.Ile854MetfsTer5) c.2517del (p.Ile839MetfsTer5) c.2508del (p.Ile836MetfsTer5) c.2484del (p.Ile828MetfsTer5) c.2478del (p.Ile826MetfsTer5) c.2451del (p.Ile817MetfsTer5) c.2445del (p.Ile815MetfsTer5) c.2439del (p.Ile813MetfsTer5) c.2388del (p.Ile796MetfsTer5) c.2487del (p.Ile829MetfsTer30) c.2307del (p.Ile769MetfsTer5) c.2308-144del (n.2308-144del) c.2439del (p.Ile813MetfsTer30) c.2229del (p.Ile743MetfsTer5) c.2208+1245del (n.2208+1245del) c.1449del (p.Ile483MetfsTer5) n.2725del | gnomAD v4 |
17 | g.39724905T>A | CA499890043 | ERBB2 | c.2487T>A (p.Ile829=) c.2397T>A (p.Ile799=) c.1659T>A (p.Ile553=) c.2442T>A (p.Ile814=) c.*2277T>A (n.*2277T>A) c.593T>A n.3621T>A n.2811T>A c.2625T>A (p.Ile875=) c.2580T>A (p.Ile860=) c.2535T>A (p.Ile845=) c.2604T>A (p.Ile868=) c.2589T>A (p.Ile863=) c.2568T>A (p.Ile856=) c.2562T>A (p.Ile854=) c.2517T>A (p.Ile839=) c.2508T>A (p.Ile836=) c.2484T>A (p.Ile828=) c.2478T>A (p.Ile826=) c.2451T>A (p.Ile817=) c.2445T>A (p.Ile815=) c.2439T>A (p.Ile813=) c.2388T>A (p.Ile796=) c.2307T>A (p.Ile769=) c.2308-144T>A (n.2308-144T>A) c.2229T>A (p.Ile743=) c.2208+1245T>A (n.2208+1245T>A) c.1449T>A (p.Ile483=) n.2725T>A | dbSNP |
17 | g.39724905T>C | CA499890044 | ERBB2 | c.2487T>C (p.Ile829=) c.2397T>C (p.Ile799=) c.1659T>C (p.Ile553=) c.2442T>C (p.Ile814=) c.*2277T>C (n.*2277T>C) c.593T>C n.3621T>C n.2811T>C c.2625T>C (p.Ile875=) c.2580T>C (p.Ile860=) c.2535T>C (p.Ile845=) c.2604T>C (p.Ile868=) c.2589T>C (p.Ile863=) c.2568T>C (p.Ile856=) c.2562T>C (p.Ile854=) c.2517T>C (p.Ile839=) c.2508T>C (p.Ile836=) c.2484T>C (p.Ile828=) c.2478T>C (p.Ile826=) c.2451T>C (p.Ile817=) c.2445T>C (p.Ile815=) c.2439T>C (p.Ile813=) c.2388T>C (p.Ile796=) c.2307T>C (p.Ile769=) c.2308-144T>C (n.2308-144T>C) c.2229T>C (p.Ile743=) c.2208+1245T>C (n.2208+1245T>C) c.1449T>C (p.Ile483=) n.2725T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724905T>G | CA399303949 | ERBB2 | c.2487T>G (p.Ile829Met) c.2397T>G (p.Ile799Met) c.1659T>G (p.Ile553Met) c.2442T>G (p.Ile814Met) c.*2277T>G (n.*2277T>G) c.593T>G n.3621T>G n.2811T>G c.2625T>G (p.Ile875Met) c.2580T>G (p.Ile860Met) c.2535T>G (p.Ile845Met) c.2604T>G (p.Ile868Met) c.2589T>G (p.Ile863Met) c.2568T>G (p.Ile856Met) c.2562T>G (p.Ile854Met) c.2517T>G (p.Ile839Met) c.2508T>G (p.Ile836Met) c.2484T>G (p.Ile828Met) c.2478T>G (p.Ile826Met) c.2451T>G (p.Ile817Met) c.2445T>G (p.Ile815Met) c.2439T>G (p.Ile813Met) c.2388T>G (p.Ile796Met) c.2307T>G (p.Ile769Met) c.2308-144T>G (n.2308-144T>G) c.2229T>G (p.Ile743Met) c.2208+1245T>G (n.2208+1245T>G) c.1449T>G (p.Ile483Met) n.2725T>G | dbSNP |
17 | g.39724905T= | CA2259228046 | ERBB2 | c.2487T= (p.Ile829=) c.2397T= (p.Ile799=) c.1659T= (p.Ile553=) c.2442T= (p.Ile814=) c.*2277T= (n.*2277T=) c.593T= n.3621T= n.2811T= c.2625T= (p.Ile875=) c.2580T= (p.Ile860=) c.2535T= (p.Ile845=) c.2604T= (p.Ile868=) c.2589T= (p.Ile863=) c.2568T= (p.Ile856=) c.2562T= (p.Ile854=) c.2517T= (p.Ile839=) c.2508T= (p.Ile836=) c.2484T= (p.Ile828=) c.2478T= (p.Ile826=) c.2451T= (p.Ile817=) c.2445T= (p.Ile815=) c.2439T= (p.Ile813=) c.2388T= (p.Ile796=) c.2307T= (p.Ile769=) c.2308-144T= (n.2308-144T=) c.2229T= (p.Ile743=) c.2208+1245T= (n.2208+1245T=) c.1449T= (p.Ile483=) n.2725T= | |
17 | g.39724906G>A | CA399303953 | ERBB2 | c.2488G>A (p.Ala830Thr) c.2398G>A (p.Ala800Thr) c.1660G>A (p.Ala554Thr) c.2443G>A (p.Ala815Thr) c.*2278G>A (n.*2278G>A) c.594G>A n.3622G>A n.2812G>A c.2626G>A (p.Ala876Thr) c.2581G>A (p.Ala861Thr) c.2536G>A (p.Ala846Thr) c.2605G>A (p.Ala869Thr) c.2590G>A (p.Ala864Thr) c.2569G>A (p.Ala857Thr) c.2563G>A (p.Ala855Thr) c.2518G>A (p.Ala840Thr) c.2509G>A (p.Ala837Thr) c.2485G>A (p.Ala829Thr) c.2479G>A (p.Ala827Thr) c.2452G>A (p.Ala818Thr) c.2446G>A (p.Ala816Thr) c.2440G>A (p.Ala814Thr) c.2389G>A (p.Ala797Thr) c.2308G>A (p.Ala770Thr) c.2308-143G>A (n.2308-143G>A) c.2230G>A (p.Ala744Thr) c.2208+1246G>A (n.2208+1246G>A) c.1450G>A (p.Ala484Thr) n.2726G>A | dbSNP |
17 | g.39724906G>C | CA399303958 | ERBB2 | c.2488G>C (p.Ala830Pro) c.2398G>C (p.Ala800Pro) c.1660G>C (p.Ala554Pro) c.2443G>C (p.Ala815Pro) c.*2278G>C (n.*2278G>C) c.594G>C n.3622G>C n.2812G>C c.2626G>C (p.Ala876Pro) c.2581G>C (p.Ala861Pro) c.2536G>C (p.Ala846Pro) c.2605G>C (p.Ala869Pro) c.2590G>C (p.Ala864Pro) c.2569G>C (p.Ala857Pro) c.2563G>C (p.Ala855Pro) c.2518G>C (p.Ala840Pro) c.2509G>C (p.Ala837Pro) c.2485G>C (p.Ala829Pro) c.2479G>C (p.Ala827Pro) c.2452G>C (p.Ala818Pro) c.2446G>C (p.Ala816Pro) c.2440G>C (p.Ala814Pro) c.2389G>C (p.Ala797Pro) c.2308G>C (p.Ala770Pro) c.2308-143G>C (n.2308-143G>C) c.2230G>C (p.Ala744Pro) c.2208+1246G>C (n.2208+1246G>C) c.1450G>C (p.Ala484Pro) n.2726G>C | dbSNP |
17 | g.39724906G>T | CA399303961 | ERBB2 | c.2488G>T (p.Ala830Ser) c.2398G>T (p.Ala800Ser) c.1660G>T (p.Ala554Ser) c.2443G>T (p.Ala815Ser) c.*2278G>T (n.*2278G>T) c.594G>T n.3622G>T n.2812G>T c.2626G>T (p.Ala876Ser) c.2581G>T (p.Ala861Ser) c.2536G>T (p.Ala846Ser) c.2605G>T (p.Ala869Ser) c.2590G>T (p.Ala864Ser) c.2569G>T (p.Ala857Ser) c.2563G>T (p.Ala855Ser) c.2518G>T (p.Ala840Ser) c.2509G>T (p.Ala837Ser) c.2485G>T (p.Ala829Ser) c.2479G>T (p.Ala827Ser) c.2452G>T (p.Ala818Ser) c.2446G>T (p.Ala816Ser) c.2440G>T (p.Ala814Ser) c.2389G>T (p.Ala797Ser) c.2308G>T (p.Ala770Ser) c.2308-143G>T (n.2308-143G>T) c.2230G>T (p.Ala744Ser) c.2208+1246G>T (n.2208+1246G>T) c.1450G>T (p.Ala484Ser) n.2726G>T | |
17 | g.39724907C>A | CA399303976 | ERBB2 | c.2489C>A (p.Ala830Asp) c.2399C>A (p.Ala800Asp) c.1661C>A (p.Ala554Asp) c.2444C>A (p.Ala815Asp) c.*2279C>A (n.*2279C>A) c.595C>A n.3623C>A n.2813C>A c.2627C>A (p.Ala876Asp) c.2582C>A (p.Ala861Asp) c.2537C>A (p.Ala846Asp) c.2606C>A (p.Ala869Asp) c.2591C>A (p.Ala864Asp) c.2570C>A (p.Ala857Asp) c.2564C>A (p.Ala855Asp) c.2519C>A (p.Ala840Asp) c.2510C>A (p.Ala837Asp) c.2486C>A (p.Ala829Asp) c.2480C>A (p.Ala827Asp) c.2453C>A (p.Ala818Asp) c.2447C>A (p.Ala816Asp) c.2441C>A (p.Ala814Asp) c.2390C>A (p.Ala797Asp) c.2309C>A (p.Ala770Asp) c.2308-142C>A (n.2308-142C>A) c.2231C>A (p.Ala744Asp) c.2208+1247C>A (n.2208+1247C>A) c.1451C>A (p.Ala484Asp) n.2727C>A | dbSNP |
17 | g.39724907C>G | CA399303966 | ERBB2 | c.2489C>G (p.Ala830Gly) c.2399C>G (p.Ala800Gly) c.1661C>G (p.Ala554Gly) c.2444C>G (p.Ala815Gly) c.*2279C>G (n.*2279C>G) c.595C>G n.3623C>G n.2813C>G c.2627C>G (p.Ala876Gly) c.2582C>G (p.Ala861Gly) c.2537C>G (p.Ala846Gly) c.2606C>G (p.Ala869Gly) c.2591C>G (p.Ala864Gly) c.2570C>G (p.Ala857Gly) c.2564C>G (p.Ala855Gly) c.2519C>G (p.Ala840Gly) c.2510C>G (p.Ala837Gly) c.2486C>G (p.Ala829Gly) c.2480C>G (p.Ala827Gly) c.2453C>G (p.Ala818Gly) c.2447C>G (p.Ala816Gly) c.2441C>G (p.Ala814Gly) c.2390C>G (p.Ala797Gly) c.2309C>G (p.Ala770Gly) c.2308-142C>G (n.2308-142C>G) c.2231C>G (p.Ala744Gly) c.2208+1247C>G (n.2208+1247C>G) c.1451C>G (p.Ala484Gly) n.2727C>G | dbSNP |
17 | g.39724907C>T | CA399303973 | ERBB2 | c.2489C>T (p.Ala830Val) c.2399C>T (p.Ala800Val) c.1661C>T (p.Ala554Val) c.2444C>T (p.Ala815Val) c.*2279C>T (n.*2279C>T) c.595C>T n.3623C>T n.2813C>T c.2627C>T (p.Ala876Val) c.2582C>T (p.Ala861Val) c.2537C>T (p.Ala846Val) c.2606C>T (p.Ala869Val) c.2591C>T (p.Ala864Val) c.2570C>T (p.Ala857Val) c.2564C>T (p.Ala855Val) c.2519C>T (p.Ala840Val) c.2510C>T (p.Ala837Val) c.2486C>T (p.Ala829Val) c.2480C>T (p.Ala827Val) c.2453C>T (p.Ala818Val) c.2447C>T (p.Ala816Val) c.2441C>T (p.Ala814Val) c.2390C>T (p.Ala797Val) c.2309C>T (p.Ala770Val) c.2308-142C>T (n.2308-142C>T) c.2231C>T (p.Ala744Val) c.2208+1247C>T (n.2208+1247C>T) c.1451C>T (p.Ala484Val) n.2727C>T | dbSNP |
17 | g.39724908C>A | CA499890045 | ERBB2 | c.2490C>A (p.Ala830=) c.2400C>A (p.Ala800=) c.1662C>A (p.Ala554=) c.2445C>A (p.Ala815=) c.*2280C>A (n.*2280C>A) c.596C>A n.3624C>A n.2814C>A c.2628C>A (p.Ala876=) c.2583C>A (p.Ala861=) c.2538C>A (p.Ala846=) c.2607C>A (p.Ala869=) c.2592C>A (p.Ala864=) c.2571C>A (p.Ala857=) c.2565C>A (p.Ala855=) c.2520C>A (p.Ala840=) c.2511C>A (p.Ala837=) c.2487C>A (p.Ala829=) c.2481C>A (p.Ala827=) c.2454C>A (p.Ala818=) c.2448C>A (p.Ala816=) c.2442C>A (p.Ala814=) c.2391C>A (p.Ala797=) c.2310C>A (p.Ala770=) c.2308-141C>A (n.2308-141C>A) c.2232C>A (p.Ala744=) c.2208+1248C>A (n.2208+1248C>A) c.1452C>A (p.Ala484=) n.2728C>A | |
17 | g.39724908C= | CA2259228047 | ERBB2 | c.2490C= (p.Ala830=) c.2400C= (p.Ala800=) c.1662C= (p.Ala554=) c.2445C= (p.Ala815=) c.*2280C= (n.*2280C=) c.596C= n.3624C= n.2814C= c.2628C= (p.Ala876=) c.2583C= (p.Ala861=) c.2538C= (p.Ala846=) c.2607C= (p.Ala869=) c.2592C= (p.Ala864=) c.2571C= (p.Ala857=) c.2565C= (p.Ala855=) c.2520C= (p.Ala840=) c.2511C= (p.Ala837=) c.2487C= (p.Ala829=) c.2481C= (p.Ala827=) c.2454C= (p.Ala818=) c.2448C= (p.Ala816=) c.2442C= (p.Ala814=) c.2391C= (p.Ala797=) c.2310C= (p.Ala770=) c.2308-141C= (n.2308-141C=) c.2232C= (p.Ala744=) c.2208+1248C= (n.2208+1248C=) c.1452C= (p.Ala484=) n.2728C= | |
17 | g.39724908C>G | CA499890046 | ERBB2 | c.2490C>G (p.Ala830=) c.2400C>G (p.Ala800=) c.1662C>G (p.Ala554=) c.2445C>G (p.Ala815=) c.*2280C>G (n.*2280C>G) c.596C>G n.3624C>G n.2814C>G c.2628C>G (p.Ala876=) c.2583C>G (p.Ala861=) c.2538C>G (p.Ala846=) c.2607C>G (p.Ala869=) c.2592C>G (p.Ala864=) c.2571C>G (p.Ala857=) c.2565C>G (p.Ala855=) c.2520C>G (p.Ala840=) c.2511C>G (p.Ala837=) c.2487C>G (p.Ala829=) c.2481C>G (p.Ala827=) c.2454C>G (p.Ala818=) c.2448C>G (p.Ala816=) c.2442C>G (p.Ala814=) c.2391C>G (p.Ala797=) c.2310C>G (p.Ala770=) c.2308-141C>G (n.2308-141C>G) c.2232C>G (p.Ala744=) c.2208+1248C>G (n.2208+1248C>G) c.1452C>G (p.Ala484=) n.2728C>G | dbSNP gnomAD v4 |
17 | g.39724908C>T | CA499890047 | ERBB2 | c.2490C>T (p.Ala830=) c.2400C>T (p.Ala800=) c.1662C>T (p.Ala554=) c.2445C>T (p.Ala815=) c.*2280C>T (n.*2280C>T) c.596C>T n.3624C>T n.2814C>T c.2628C>T (p.Ala876=) c.2583C>T (p.Ala861=) c.2538C>T (p.Ala846=) c.2607C>T (p.Ala869=) c.2592C>T (p.Ala864=) c.2571C>T (p.Ala857=) c.2565C>T (p.Ala855=) c.2520C>T (p.Ala840=) c.2511C>T (p.Ala837=) c.2487C>T (p.Ala829=) c.2481C>T (p.Ala827=) c.2454C>T (p.Ala818=) c.2448C>T (p.Ala816=) c.2442C>T (p.Ala814=) c.2391C>T (p.Ala797=) c.2310C>T (p.Ala770=) c.2308-141C>T (n.2308-141C>T) c.2232C>T (p.Ala744=) c.2208+1248C>T (n.2208+1248C>T) c.1452C>T (p.Ala484=) n.2728C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.39724908_39724909del | CA2739290957 | ERBB2 | c.2490_2491del (p.Lys831GlyfsTer?) c.2400_2401del (p.Lys801GlyfsTer?) c.1662_1663del (p.Lys555GlyfsTer?) c.2445_2446del (p.Lys816GlyfsTer?) c.*2280_*2281del (n.*2280_*2281del) c.596_597del n.3624_3625del n.2814_2815del c.2628_2629del (p.Lys877GlyfsTer?) c.2583_2584del (p.Lys862GlyfsTer?) c.2538_2539del (p.Lys847GlyfsTer?) c.2607_2608del (p.Lys870GlyfsTer?) c.2592_2593del (p.Lys865GlyfsTer?) c.2571_2572del (p.Lys858GlyfsTer?) c.2565_2566del (p.Lys856GlyfsTer?) c.2520_2521del (p.Lys841GlyfsTer?) c.2511_2512del (p.Lys838GlyfsTer?) c.2487_2488del (p.Lys830GlyfsTer?) c.2481_2482del (p.Lys828GlyfsTer?) c.2454_2455del (p.Lys819GlyfsTer?) c.2448_2449del (p.Lys817GlyfsTer?) c.2442_2443del (p.Lys815GlyfsTer?) c.2391_2392del (p.Lys798GlyfsTer?) c.2490_2491del (p.Lys831GlyfsTer21) c.2310_2311del (p.Lys771GlyfsTer?) c.2308-141_2308-140del (n.2308-141_2308-140del) c.2442_2443del (p.Lys815GlyfsTer21) c.2232_2233del (p.Lys745GlyfsTer?) c.2208+1248_2208+1249del (n.2208+1248_2208+1249del) c.1452_1453del (p.Lys485GlyfsTer?) n.2728_2729del | |
17 | g.39724909A>C | CA399303979 | ERBB2 | c.2491A>C (p.Lys831Gln) c.2401A>C (p.Lys801Gln) c.1663A>C (p.Lys555Gln) c.2446A>C (p.Lys816Gln) c.*2281A>C (n.*2281A>C) c.597A>C n.3625A>C n.2815A>C c.2629A>C (p.Lys877Gln) c.2584A>C (p.Lys862Gln) c.2539A>C (p.Lys847Gln) c.2608A>C (p.Lys870Gln) c.2593A>C (p.Lys865Gln) c.2572A>C (p.Lys858Gln) c.2566A>C (p.Lys856Gln) c.2521A>C (p.Lys841Gln) c.2512A>C (p.Lys838Gln) c.2488A>C (p.Lys830Gln) c.2482A>C (p.Lys828Gln) c.2455A>C (p.Lys819Gln) c.2449A>C (p.Lys817Gln) c.2443A>C (p.Lys815Gln) c.2392A>C (p.Lys798Gln) c.2311A>C (p.Lys771Gln) c.2308-140A>C (n.2308-140A>C) c.2233A>C (p.Lys745Gln) c.2208+1249A>C (n.2208+1249A>C) c.1453A>C (p.Lys485Gln) n.2729A>C | dbSNP |
17 | g.39724909A>G | CA399303981 | ERBB2 | c.2491A>G (p.Lys831Glu) c.2401A>G (p.Lys801Glu) c.1663A>G (p.Lys555Glu) c.2446A>G (p.Lys816Glu) c.*2281A>G (n.*2281A>G) c.597A>G n.3625A>G n.2815A>G c.2629A>G (p.Lys877Glu) c.2584A>G (p.Lys862Glu) c.2539A>G (p.Lys847Glu) c.2608A>G (p.Lys870Glu) c.2593A>G (p.Lys865Glu) c.2572A>G (p.Lys858Glu) c.2566A>G (p.Lys856Glu) c.2521A>G (p.Lys841Glu) c.2512A>G (p.Lys838Glu) c.2488A>G (p.Lys830Glu) c.2482A>G (p.Lys828Glu) c.2455A>G (p.Lys819Glu) c.2449A>G (p.Lys817Glu) c.2443A>G (p.Lys815Glu) c.2392A>G (p.Lys798Glu) c.2311A>G (p.Lys771Glu) c.2308-140A>G (n.2308-140A>G) c.2233A>G (p.Lys745Glu) c.2208+1249A>G (n.2208+1249A>G) c.1453A>G (p.Lys485Glu) n.2729A>G | dbSNP |
17 | g.39724909A>T | CA399303982 | ERBB2 | c.2491A>T (p.Lys831Ter) c.2401A>T (p.Lys801Ter) c.1663A>T (p.Lys555Ter) c.2446A>T (p.Lys816Ter) c.*2281A>T (n.*2281A>T) c.597A>T n.3625A>T n.2815A>T c.2629A>T (p.Lys877Ter) c.2584A>T (p.Lys862Ter) c.2539A>T (p.Lys847Ter) c.2608A>T (p.Lys870Ter) c.2593A>T (p.Lys865Ter) c.2572A>T (p.Lys858Ter) c.2566A>T (p.Lys856Ter) c.2521A>T (p.Lys841Ter) c.2512A>T (p.Lys838Ter) c.2488A>T (p.Lys830Ter) c.2482A>T (p.Lys828Ter) c.2455A>T (p.Lys819Ter) c.2449A>T (p.Lys817Ter) c.2443A>T (p.Lys815Ter) c.2392A>T (p.Lys798Ter) c.2311A>T (p.Lys771Ter) c.2308-140A>T (n.2308-140A>T) c.2233A>T (p.Lys745Ter) c.2208+1249A>T (n.2208+1249A>T) c.1453A>T (p.Lys485Ter) n.2729A>T | dbSNP |
17 | g.39724910A>C | CA399303985 | ERBB2 | c.2492A>C (p.Lys831Thr) c.2402A>C (p.Lys801Thr) c.1664A>C (p.Lys555Thr) c.2447A>C (p.Lys816Thr) c.*2282A>C (n.*2282A>C) c.598A>C n.3626A>C n.2816A>C c.2630A>C (p.Lys877Thr) c.2585A>C (p.Lys862Thr) c.2540A>C (p.Lys847Thr) c.2609A>C (p.Lys870Thr) c.2594A>C (p.Lys865Thr) c.2573A>C (p.Lys858Thr) c.2567A>C (p.Lys856Thr) c.2522A>C (p.Lys841Thr) c.2513A>C (p.Lys838Thr) c.2489A>C (p.Lys830Thr) c.2483A>C (p.Lys828Thr) c.2456A>C (p.Lys819Thr) c.2450A>C (p.Lys817Thr) c.2444A>C (p.Lys815Thr) c.2393A>C (p.Lys798Thr) c.2312A>C (p.Lys771Thr) c.2308-139A>C (n.2308-139A>C) c.2234A>C (p.Lys745Thr) c.2208+1250A>C (n.2208+1250A>C) c.1454A>C (p.Lys485Thr) n.2730A>C | |
17 | g.39724910A>G | CA399303988 | ERBB2 | c.2492A>G (p.Lys831Arg) c.2402A>G (p.Lys801Arg) c.1664A>G (p.Lys555Arg) c.2447A>G (p.Lys816Arg) c.*2282A>G (n.*2282A>G) c.598A>G n.3626A>G n.2816A>G c.2630A>G (p.Lys877Arg) c.2585A>G (p.Lys862Arg) c.2540A>G (p.Lys847Arg) c.2609A>G (p.Lys870Arg) c.2594A>G (p.Lys865Arg) c.2573A>G (p.Lys858Arg) c.2567A>G (p.Lys856Arg) c.2522A>G (p.Lys841Arg) c.2513A>G (p.Lys838Arg) c.2489A>G (p.Lys830Arg) c.2483A>G (p.Lys828Arg) c.2456A>G (p.Lys819Arg) c.2450A>G (p.Lys817Arg) c.2444A>G (p.Lys815Arg) c.2393A>G (p.Lys798Arg) c.2312A>G (p.Lys771Arg) c.2308-139A>G (n.2308-139A>G) c.2234A>G (p.Lys745Arg) c.2208+1250A>G (n.2208+1250A>G) c.1454A>G (p.Lys485Arg) n.2730A>G | ClinVar dbSNP gnomAD v4 |
17 | g.39724910A>T | CA399303993 | ERBB2 | c.2492A>T (p.Lys831Met) c.2402A>T (p.Lys801Met) c.1664A>T (p.Lys555Met) c.2447A>T (p.Lys816Met) c.*2282A>T (n.*2282A>T) c.598A>T n.3626A>T n.2816A>T c.2630A>T (p.Lys877Met) c.2585A>T (p.Lys862Met) c.2540A>T (p.Lys847Met) c.2609A>T (p.Lys870Met) c.2594A>T (p.Lys865Met) c.2573A>T (p.Lys858Met) c.2567A>T (p.Lys856Met) c.2522A>T (p.Lys841Met) c.2513A>T (p.Lys838Met) c.2489A>T (p.Lys830Met) c.2483A>T (p.Lys828Met) c.2456A>T (p.Lys819Met) c.2450A>T (p.Lys817Met) c.2444A>T (p.Lys815Met) c.2393A>T (p.Lys798Met) c.2312A>T (p.Lys771Met) c.2308-139A>T (n.2308-139A>T) c.2234A>T (p.Lys745Met) c.2208+1250A>T (n.2208+1250A>T) c.1454A>T (p.Lys485Met) n.2730A>T | dbSNP |
17 | g.39724911G>A | CA499890048 | ERBB2 | c.2493G>A (p.Lys831=) c.2403G>A (p.Lys801=) c.1665G>A (p.Lys555=) c.2448G>A (p.Lys816=) c.*2283G>A (n.*2283G>A) c.599G>A n.3627G>A n.2817G>A c.2631G>A (p.Lys877=) c.2586G>A (p.Lys862=) c.2541G>A (p.Lys847=) c.2610G>A (p.Lys870=) c.2595G>A (p.Lys865=) c.2574G>A (p.Lys858=) c.2568G>A (p.Lys856=) c.2523G>A (p.Lys841=) c.2514G>A (p.Lys838=) c.2490G>A (p.Lys830=) c.2484G>A (p.Lys828=) c.2457G>A (p.Lys819=) c.2451G>A (p.Lys817=) c.2445G>A (p.Lys815=) c.2394G>A (p.Lys798=) c.2313G>A (p.Lys771=) c.2308-138G>A (n.2308-138G>A) c.2235G>A (p.Lys745=) c.2208+1251G>A (n.2208+1251G>A) c.1455G>A (p.Lys485=) n.2731G>A | dbSNP gnomAD v4 |
17 | g.39724911G>C | CA399303998 | ERBB2 | c.2493G>C (p.Lys831Asn) c.2403G>C (p.Lys801Asn) c.1665G>C (p.Lys555Asn) c.2448G>C (p.Lys816Asn) c.*2283G>C (n.*2283G>C) c.599G>C n.3627G>C n.2817G>C c.2631G>C (p.Lys877Asn) c.2586G>C (p.Lys862Asn) c.2541G>C (p.Lys847Asn) c.2610G>C (p.Lys870Asn) c.2595G>C (p.Lys865Asn) c.2574G>C (p.Lys858Asn) c.2568G>C (p.Lys856Asn) c.2523G>C (p.Lys841Asn) c.2514G>C (p.Lys838Asn) c.2490G>C (p.Lys830Asn) c.2484G>C (p.Lys828Asn) c.2457G>C (p.Lys819Asn) c.2451G>C (p.Lys817Asn) c.2445G>C (p.Lys815Asn) c.2394G>C (p.Lys798Asn) c.2313G>C (p.Lys771Asn) c.2308-138G>C (n.2308-138G>C) c.2235G>C (p.Lys745Asn) c.2208+1251G>C (n.2208+1251G>C) c.1455G>C (p.Lys485Asn) n.2731G>C | dbSNP |
17 | g.39724911G>T | CA399303999 | ERBB2 | c.2493G>T (p.Lys831Asn) c.2403G>T (p.Lys801Asn) c.1665G>T (p.Lys555Asn) c.2448G>T (p.Lys816Asn) c.*2283G>T (n.*2283G>T) c.599G>T n.3627G>T n.2817G>T c.2631G>T (p.Lys877Asn) c.2586G>T (p.Lys862Asn) c.2541G>T (p.Lys847Asn) c.2610G>T (p.Lys870Asn) c.2595G>T (p.Lys865Asn) c.2574G>T (p.Lys858Asn) c.2568G>T (p.Lys856Asn) c.2523G>T (p.Lys841Asn) c.2514G>T (p.Lys838Asn) c.2490G>T (p.Lys830Asn) c.2484G>T (p.Lys828Asn) c.2457G>T (p.Lys819Asn) c.2451G>T (p.Lys817Asn) c.2445G>T (p.Lys815Asn) c.2394G>T (p.Lys798Asn) c.2313G>T (p.Lys771Asn) c.2308-138G>T (n.2308-138G>T) c.2235G>T (p.Lys745Asn) c.2208+1251G>T (n.2208+1251G>T) c.1455G>T (p.Lys485Asn) n.2731G>T | dbSNP |
17 | g.39724912G>A | CA399304005 | ERBB2 | c.2493+1G>A (n.2493+1G>A) c.2403+1G>A (n.2403+1G>A) c.1665+1G>A (n.1665+1G>A) c.2448+1G>A (n.2448+1G>A) c.*2283+1G>A (n.*2283+1G>A) c.599+1G>A n.3627+1G>A n.2817+1G>A c.2631+1G>A (n.2631+1G>A) c.2586+1G>A (n.2586+1G>A) c.2541+1G>A (n.2541+1G>A) c.2610+1G>A (n.2610+1G>A) c.2595+1G>A (n.2595+1G>A) c.2574+1G>A (n.2574+1G>A) c.2568+1G>A (n.2568+1G>A) c.2523+1G>A (n.2523+1G>A) c.2514+1G>A (n.2514+1G>A) c.2490+1G>A (n.2490+1G>A) c.2484+1G>A (n.2484+1G>A) c.2457+1G>A (n.2457+1G>A) c.2451+1G>A (n.2451+1G>A) c.2445+1G>A (n.2445+1G>A) c.2394+1G>A (n.2394+1G>A) c.2313+1G>A (n.2313+1G>A) c.2308-137G>A (n.2308-137G>A) c.2235+1G>A (n.2235+1G>A) c.2208+1252G>A (n.2208+1252G>A) c.1455+1G>A (n.1455+1G>A) n.2731+1G>A | dbSNP |
17 | g.39724912G>C | CA399304010 | ERBB2 | c.2493+1G>C (n.2493+1G>C) c.2403+1G>C (n.2403+1G>C) c.1665+1G>C (n.1665+1G>C) c.2448+1G>C (n.2448+1G>C) c.*2283+1G>C (n.*2283+1G>C) c.599+1G>C n.3627+1G>C n.2817+1G>C c.2631+1G>C (n.2631+1G>C) c.2586+1G>C (n.2586+1G>C) c.2541+1G>C (n.2541+1G>C) c.2610+1G>C (n.2610+1G>C) c.2595+1G>C (n.2595+1G>C) c.2574+1G>C (n.2574+1G>C) c.2568+1G>C (n.2568+1G>C) c.2523+1G>C (n.2523+1G>C) c.2514+1G>C (n.2514+1G>C) c.2490+1G>C (n.2490+1G>C) c.2484+1G>C (n.2484+1G>C) c.2457+1G>C (n.2457+1G>C) c.2451+1G>C (n.2451+1G>C) c.2445+1G>C (n.2445+1G>C) c.2394+1G>C (n.2394+1G>C) c.2313+1G>C (n.2313+1G>C) c.2308-137G>C (n.2308-137G>C) c.2235+1G>C (n.2235+1G>C) c.2208+1252G>C (n.2208+1252G>C) c.1455+1G>C (n.1455+1G>C) n.2731+1G>C | dbSNP |
17 | g.39724912G>T | CA399304011 | ERBB2 | c.2493+1G>T (n.2493+1G>T) c.2403+1G>T (n.2403+1G>T) c.1665+1G>T (n.1665+1G>T) c.2448+1G>T (n.2448+1G>T) c.*2283+1G>T (n.*2283+1G>T) c.599+1G>T n.3627+1G>T n.2817+1G>T c.2631+1G>T (n.2631+1G>T) c.2586+1G>T (n.2586+1G>T) c.2541+1G>T (n.2541+1G>T) c.2610+1G>T (n.2610+1G>T) c.2595+1G>T (n.2595+1G>T) c.2574+1G>T (n.2574+1G>T) c.2568+1G>T (n.2568+1G>T) c.2523+1G>T (n.2523+1G>T) c.2514+1G>T (n.2514+1G>T) c.2490+1G>T (n.2490+1G>T) c.2484+1G>T (n.2484+1G>T) c.2457+1G>T (n.2457+1G>T) c.2451+1G>T (n.2451+1G>T) c.2445+1G>T (n.2445+1G>T) c.2394+1G>T (n.2394+1G>T) c.2313+1G>T (n.2313+1G>T) c.2308-137G>T (n.2308-137G>T) c.2235+1G>T (n.2235+1G>T) c.2208+1252G>T (n.2208+1252G>T) c.1455+1G>T (n.1455+1G>T) n.2731+1G>T | dbSNP |