WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39724772T>A | CA399302973 | ERBB2 | c.2354T>A (p.Leu785His) c.2264T>A (p.Leu755His) c.1526T>A (p.Leu509His) c.2309T>A (p.Leu770His) c.*2144T>A (n.*2144T>A) c.460T>A n.3488T>A n.2678T>A c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2402T>A (p.Leu801His) c.2471T>A (p.Leu824His) c.2456T>A (p.Leu819His) c.2435T>A (p.Leu812His) c.2429T>A (p.Leu810His) c.2384T>A (p.Leu795His) c.2375T>A (p.Leu792His) c.2351T>A (p.Leu784His) c.2345T>A (p.Leu782His) c.2318T>A (p.Leu773His) c.2312T>A (p.Leu771His) c.2306T>A (p.Leu769His) c.2255T>A (p.Leu752His) c.2174T>A (p.Leu725His) c.2308-277T>A (n.2308-277T>A) c.2096T>A (p.Leu699His) c.2208+1112T>A (n.2208+1112T>A) c.1316T>A (p.Leu439His) n.2592T>A | dbSNP |
| 17 | g.39724772T>C | CA16602776 | ERBB2 | c.2354T>C (p.Leu785Pro) c.2264T>C (p.Leu755Pro) c.1526T>C (p.Leu509Pro) c.2309T>C (p.Leu770Pro) c.*2144T>C (n.*2144T>C) c.460T>C n.3488T>C n.2678T>C c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2402T>C (p.Leu801Pro) c.2471T>C (p.Leu824Pro) c.2456T>C (p.Leu819Pro) c.2435T>C (p.Leu812Pro) c.2429T>C (p.Leu810Pro) c.2384T>C (p.Leu795Pro) c.2375T>C (p.Leu792Pro) c.2351T>C (p.Leu784Pro) c.2345T>C (p.Leu782Pro) c.2318T>C (p.Leu773Pro) c.2312T>C (p.Leu771Pro) c.2306T>C (p.Leu769Pro) c.2255T>C (p.Leu752Pro) c.2174T>C (p.Leu725Pro) c.2308-277T>C (n.2308-277T>C) c.2096T>C (p.Leu699Pro) c.2208+1112T>C (n.2208+1112T>C) c.1316T>C (p.Leu439Pro) n.2592T>C | ClinVar dbSNP |
| 17 | g.39724772T>G | CA399302982 | ERBB2 | c.2354T>G (p.Leu785Arg) c.2264T>G (p.Leu755Arg) c.1526T>G (p.Leu509Arg) c.2309T>G (p.Leu770Arg) c.*2144T>G (n.*2144T>G) c.460T>G n.3488T>G n.2678T>G c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2402T>G (p.Leu801Arg) c.2471T>G (p.Leu824Arg) c.2456T>G (p.Leu819Arg) c.2435T>G (p.Leu812Arg) c.2429T>G (p.Leu810Arg) c.2384T>G (p.Leu795Arg) c.2375T>G (p.Leu792Arg) c.2351T>G (p.Leu784Arg) c.2345T>G (p.Leu782Arg) c.2318T>G (p.Leu773Arg) c.2312T>G (p.Leu771Arg) c.2306T>G (p.Leu769Arg) c.2255T>G (p.Leu752Arg) c.2174T>G (p.Leu725Arg) c.2308-277T>G (n.2308-277T>G) c.2096T>G (p.Leu699Arg) c.2208+1112T>G (n.2208+1112T>G) c.1316T>G (p.Leu439Arg) n.2592T>G | dbSNP |
| 17 | g.39724772T= | CA2259228001 | ERBB2 | c.2354T= (p.Leu785=) c.2264T= (p.Leu755=) c.1526T= (p.Leu509=) c.2309T= (p.Leu770=) c.*2144T= (n.*2144T=) c.460T= n.3488T= n.2678T= c.2492T= (p.Leu831=) c.2447T= (p.Leu816=) c.2402T= (p.Leu801=) c.2471T= (p.Leu824=) c.2456T= (p.Leu819=) c.2435T= (p.Leu812=) c.2429T= (p.Leu810=) c.2384T= (p.Leu795=) c.2375T= (p.Leu792=) c.2351T= (p.Leu784=) c.2345T= (p.Leu782=) c.2318T= (p.Leu773=) c.2312T= (p.Leu771=) c.2306T= (p.Leu769=) c.2255T= (p.Leu752=) c.2174T= (p.Leu725=) c.2308-277T= (n.2308-277T=) c.2096T= (p.Leu699=) c.2208+1112T= (n.2208+1112T=) c.1316T= (p.Leu439=) n.2592T= | |
| 17 | g.39724772_39724773delinsGG | CA645578287 | ERBB2 | c.2354_2355delinsGG (p.Leu785Arg) c.2264_2265delinsGG (p.Leu755Arg) c.1526_1527delinsGG (p.Leu509Arg) c.2309_2310delinsGG (p.Leu770Arg) c.*2144_*2145delinsGG (n.*2144_*2145delinsGG) c.460_461delinsGG n.3488_3489delinsGG n.2678_2679delinsGG c.2492_2493delinsGG (p.Leu831Arg) c.2447_2448delinsGG (p.Leu816Arg) c.2402_2403delinsGG (p.Leu801Arg) c.2471_2472delinsGG (p.Leu824Arg) c.2456_2457delinsGG (p.Leu819Arg) c.2435_2436delinsGG (p.Leu812Arg) c.2429_2430delinsGG (p.Leu810Arg) c.2384_2385delinsGG (p.Leu795Arg) c.2375_2376delinsGG (p.Leu792Arg) c.2351_2352delinsGG (p.Leu784Arg) c.2345_2346delinsGG (p.Leu782Arg) c.2318_2319delinsGG (p.Leu773Arg) c.2312_2313delinsGG (p.Leu771Arg) c.2306_2307delinsGG (p.Leu769Arg) c.2255_2256delinsGG (p.Leu752Arg) c.2174_2175delinsGG (p.Leu725Arg) c.2308-277_2308-276delinsGG (n.2308-277_2308-276delinsGG) c.2096_2097delinsGG (p.Leu699Arg) c.2208+1112_2208+1113delinsGG (n.2208+1112_2208+1113delinsGG) c.1316_1317delinsGG (p.Leu439Arg) n.2592_2593delinsGG | COSMIC |
| 17 | g.39724773T>A | CA499670861 | ERBB2 | c.2355T>A (p.Leu785=) c.2265T>A (p.Leu755=) c.1527T>A (p.Leu509=) c.2310T>A (p.Leu770=) c.*2145T>A (n.*2145T>A) c.461T>A n.3489T>A n.2679T>A c.2493T>A (p.Leu831=) c.2448T>A (p.Leu816=) c.2403T>A (p.Leu801=) c.2472T>A (p.Leu824=) c.2457T>A (p.Leu819=) c.2436T>A (p.Leu812=) c.2430T>A (p.Leu810=) c.2385T>A (p.Leu795=) c.2376T>A (p.Leu792=) c.2352T>A (p.Leu784=) c.2346T>A (p.Leu782=) c.2319T>A (p.Leu773=) c.2313T>A (p.Leu771=) c.2307T>A (p.Leu769=) c.2256T>A (p.Leu752=) c.2175T>A (p.Leu725=) c.2308-276T>A (n.2308-276T>A) c.2097T>A (p.Leu699=) c.2208+1113T>A (n.2208+1113T>A) c.1317T>A (p.Leu439=) n.2593T>A | dbSNP |
| 17 | g.39724773T>C | CA499670863 | ERBB2 | c.2355T>C (p.Leu785=) c.2265T>C (p.Leu755=) c.1527T>C (p.Leu509=) c.2310T>C (p.Leu770=) c.*2145T>C (n.*2145T>C) c.461T>C n.3489T>C n.2679T>C c.2493T>C (p.Leu831=) c.2448T>C (p.Leu816=) c.2403T>C (p.Leu801=) c.2472T>C (p.Leu824=) c.2457T>C (p.Leu819=) c.2436T>C (p.Leu812=) c.2430T>C (p.Leu810=) c.2385T>C (p.Leu795=) c.2376T>C (p.Leu792=) c.2352T>C (p.Leu784=) c.2346T>C (p.Leu782=) c.2319T>C (p.Leu773=) c.2313T>C (p.Leu771=) c.2307T>C (p.Leu769=) c.2256T>C (p.Leu752=) c.2175T>C (p.Leu725=) c.2308-276T>C (n.2308-276T>C) c.2097T>C (p.Leu699=) c.2208+1113T>C (n.2208+1113T>C) c.1317T>C (p.Leu439=) n.2593T>C | dbSNP |
| 17 | g.39724773T>G | CA499670862 | ERBB2 | c.2355T>G (p.Leu785=) c.2265T>G (p.Leu755=) c.1527T>G (p.Leu509=) c.2310T>G (p.Leu770=) c.*2145T>G (n.*2145T>G) c.461T>G n.3489T>G n.2679T>G c.2493T>G (p.Leu831=) c.2448T>G (p.Leu816=) c.2403T>G (p.Leu801=) c.2472T>G (p.Leu824=) c.2457T>G (p.Leu819=) c.2436T>G (p.Leu812=) c.2430T>G (p.Leu810=) c.2385T>G (p.Leu795=) c.2376T>G (p.Leu792=) c.2352T>G (p.Leu784=) c.2346T>G (p.Leu782=) c.2319T>G (p.Leu773=) c.2313T>G (p.Leu771=) c.2307T>G (p.Leu769=) c.2256T>G (p.Leu752=) c.2175T>G (p.Leu725=) c.2308-276T>G (n.2308-276T>G) c.2097T>G (p.Leu699=) c.2208+1113T>G (n.2208+1113T>G) c.1317T>G (p.Leu439=) n.2593T>G | |
| 17 | g.39724774C>A | CA399302987 | ERBB2 | c.2356C>A (p.Leu786Met) c.2266C>A (p.Leu756Met) c.1528C>A (p.Leu510Met) c.2311C>A (p.Leu771Met) c.*2146C>A (n.*2146C>A) c.462C>A n.3490C>A n.2680C>A c.2494C>A (p.Leu832Met) c.2449C>A (p.Leu817Met) c.2404C>A (p.Leu802Met) c.2473C>A (p.Leu825Met) c.2458C>A (p.Leu820Met) c.2437C>A (p.Leu813Met) c.2431C>A (p.Leu811Met) c.2386C>A (p.Leu796Met) c.2377C>A (p.Leu793Met) c.2353C>A (p.Leu785Met) c.2347C>A (p.Leu783Met) c.2320C>A (p.Leu774Met) c.2314C>A (p.Leu772Met) c.2308C>A (p.Leu770Met) c.2257C>A (p.Leu753Met) c.2176C>A (p.Leu726Met) c.2308-275C>A (n.2308-275C>A) c.2098C>A (p.Leu700Met) c.2208+1114C>A (n.2208+1114C>A) c.1318C>A (p.Leu440Met) n.2594C>A | |
| 17 | g.39724774C>G | CA399302990 | ERBB2 | c.2356C>G (p.Leu786Val) c.2266C>G (p.Leu756Val) c.1528C>G (p.Leu510Val) c.2311C>G (p.Leu771Val) c.*2146C>G (n.*2146C>G) c.462C>G n.3490C>G n.2680C>G c.2494C>G (p.Leu832Val) c.2449C>G (p.Leu817Val) c.2404C>G (p.Leu802Val) c.2473C>G (p.Leu825Val) c.2458C>G (p.Leu820Val) c.2437C>G (p.Leu813Val) c.2431C>G (p.Leu811Val) c.2386C>G (p.Leu796Val) c.2377C>G (p.Leu793Val) c.2353C>G (p.Leu785Val) c.2347C>G (p.Leu783Val) c.2320C>G (p.Leu774Val) c.2314C>G (p.Leu772Val) c.2308C>G (p.Leu770Val) c.2257C>G (p.Leu753Val) c.2176C>G (p.Leu726Val) c.2308-275C>G (n.2308-275C>G) c.2098C>G (p.Leu700Val) c.2208+1114C>G (n.2208+1114C>G) c.1318C>G (p.Leu440Val) n.2594C>G | dbSNP |
| 17 | g.39724774C>T | CA499670864 | ERBB2 | c.2356C>T (p.Leu786=) c.2266C>T (p.Leu756=) c.1528C>T (p.Leu510=) c.2311C>T (p.Leu771=) c.*2146C>T (n.*2146C>T) c.462C>T n.3490C>T n.2680C>T c.2494C>T (p.Leu832=) c.2449C>T (p.Leu817=) c.2404C>T (p.Leu802=) c.2473C>T (p.Leu825=) c.2458C>T (p.Leu820=) c.2437C>T (p.Leu813=) c.2431C>T (p.Leu811=) c.2386C>T (p.Leu796=) c.2377C>T (p.Leu793=) c.2353C>T (p.Leu785=) c.2347C>T (p.Leu783=) c.2320C>T (p.Leu774=) c.2314C>T (p.Leu772=) c.2308C>T (p.Leu770=) c.2257C>T (p.Leu753=) c.2176C>T (p.Leu726=) c.2308-275C>T (n.2308-275C>T) c.2098C>T (p.Leu700=) c.2208+1114C>T (n.2208+1114C>T) c.1318C>T (p.Leu440=) n.2594C>T | dbSNP |
| 17 | g.39724775T>A | CA399302998 | ERBB2 | c.2357T>A (p.Leu786Gln) c.2267T>A (p.Leu756Gln) c.1529T>A (p.Leu510Gln) c.2312T>A (p.Leu771Gln) c.*2147T>A (n.*2147T>A) c.463T>A n.3491T>A n.2681T>A c.2495T>A (p.Leu832Gln) c.2450T>A (p.Leu817Gln) c.2405T>A (p.Leu802Gln) c.2474T>A (p.Leu825Gln) c.2459T>A (p.Leu820Gln) c.2438T>A (p.Leu813Gln) c.2432T>A (p.Leu811Gln) c.2387T>A (p.Leu796Gln) c.2378T>A (p.Leu793Gln) c.2354T>A (p.Leu785Gln) c.2348T>A (p.Leu783Gln) c.2321T>A (p.Leu774Gln) c.2315T>A (p.Leu772Gln) c.2309T>A (p.Leu770Gln) c.2258T>A (p.Leu753Gln) c.2177T>A (p.Leu726Gln) c.2308-274T>A (n.2308-274T>A) c.2099T>A (p.Leu700Gln) c.2208+1115T>A (n.2208+1115T>A) c.1319T>A (p.Leu440Gln) n.2595T>A | |
| 17 | g.39724775T>C | CA399302996 | ERBB2 | c.2357T>C (p.Leu786Pro) c.2267T>C (p.Leu756Pro) c.1529T>C (p.Leu510Pro) c.2312T>C (p.Leu771Pro) c.*2147T>C (n.*2147T>C) c.463T>C n.3491T>C n.2681T>C c.2495T>C (p.Leu832Pro) c.2450T>C (p.Leu817Pro) c.2405T>C (p.Leu802Pro) c.2474T>C (p.Leu825Pro) c.2459T>C (p.Leu820Pro) c.2438T>C (p.Leu813Pro) c.2432T>C (p.Leu811Pro) c.2387T>C (p.Leu796Pro) c.2378T>C (p.Leu793Pro) c.2354T>C (p.Leu785Pro) c.2348T>C (p.Leu783Pro) c.2321T>C (p.Leu774Pro) c.2315T>C (p.Leu772Pro) c.2309T>C (p.Leu770Pro) c.2258T>C (p.Leu753Pro) c.2177T>C (p.Leu726Pro) c.2308-274T>C (n.2308-274T>C) c.2099T>C (p.Leu700Pro) c.2208+1115T>C (n.2208+1115T>C) c.1319T>C (p.Leu440Pro) n.2595T>C | |
| 17 | g.39724775T>G | CA399302993 | ERBB2 | c.2357T>G (p.Leu786Arg) c.2267T>G (p.Leu756Arg) c.1529T>G (p.Leu510Arg) c.2312T>G (p.Leu771Arg) c.*2147T>G (n.*2147T>G) c.463T>G n.3491T>G n.2681T>G c.2495T>G (p.Leu832Arg) c.2450T>G (p.Leu817Arg) c.2405T>G (p.Leu802Arg) c.2474T>G (p.Leu825Arg) c.2459T>G (p.Leu820Arg) c.2438T>G (p.Leu813Arg) c.2432T>G (p.Leu811Arg) c.2387T>G (p.Leu796Arg) c.2378T>G (p.Leu793Arg) c.2354T>G (p.Leu785Arg) c.2348T>G (p.Leu783Arg) c.2321T>G (p.Leu774Arg) c.2315T>G (p.Leu772Arg) c.2309T>G (p.Leu770Arg) c.2258T>G (p.Leu753Arg) c.2177T>G (p.Leu726Arg) c.2308-274T>G (n.2308-274T>G) c.2099T>G (p.Leu700Arg) c.2208+1115T>G (n.2208+1115T>G) c.1319T>G (p.Leu440Arg) n.2595T>G | |
| 17 | g.39724775_39724776delinsTG | CA2259228002 | ERBB2 | c.2357_2358delinsTG (p.Leu786=) c.2267_2268delinsTG (p.Leu756=) c.1529_1530delinsTG (p.Leu510=) c.2312_2313delinsTG (p.Leu771=) c.*2147_*2148delinsTG (n.*2147_*2148delinsTG) c.463_464delinsTG n.3491_3492delinsTG n.2681_2682delinsTG c.2495_2496delinsTG (p.Leu832=) c.2450_2451delinsTG (p.Leu817=) c.2405_2406delinsTG (p.Leu802=) c.2474_2475delinsTG (p.Leu825=) c.2459_2460delinsTG (p.Leu820=) c.2438_2439delinsTG (p.Leu813=) c.2432_2433delinsTG (p.Leu811=) c.2387_2388delinsTG (p.Leu796=) c.2378_2379delinsTG (p.Leu793=) c.2354_2355delinsTG (p.Leu785=) c.2348_2349delinsTG (p.Leu783=) c.2321_2322delinsTG (p.Leu774=) c.2315_2316delinsTG (p.Leu772=) c.2309_2310delinsTG (p.Leu770=) c.2258_2259delinsTG (p.Leu753=) c.2177_2178delinsTG (p.Leu726=) c.2308-274_2308-273delinsTG (n.2308-274_2308-273delinsTG) c.2099_2100delinsTG (p.Leu700=) c.2208+1115_2208+1116delinsTG (n.2208+1115_2208+1116delinsTG) c.1319_1320delinsTG (p.Leu440=) n.2595_2596delinsTG | |
| 17 | g.39724776G>A | CA499670865 | ERBB2 | c.2358G>A (p.Leu786=) c.2268G>A (p.Leu756=) c.1530G>A (p.Leu510=) c.2313G>A (p.Leu771=) c.*2148G>A (n.*2148G>A) c.464G>A n.3492G>A n.2682G>A c.2496G>A (p.Leu832=) c.2451G>A (p.Leu817=) c.2406G>A (p.Leu802=) c.2475G>A (p.Leu825=) c.2460G>A (p.Leu820=) c.2439G>A (p.Leu813=) c.2433G>A (p.Leu811=) c.2388G>A (p.Leu796=) c.2379G>A (p.Leu793=) c.2355G>A (p.Leu785=) c.2349G>A (p.Leu783=) c.2322G>A (p.Leu774=) c.2316G>A (p.Leu772=) c.2310G>A (p.Leu770=) c.2259G>A (p.Leu753=) c.2178G>A (p.Leu726=) c.2308-273G>A (n.2308-273G>A) c.2100G>A (p.Leu700=) c.2208+1116G>A (n.2208+1116G>A) c.1320G>A (p.Leu440=) n.2596G>A | dbSNP |
| 17 | g.39724776G>C | CA499670866 | ERBB2 | c.2358G>C (p.Leu786=) c.2268G>C (p.Leu756=) c.1530G>C (p.Leu510=) c.2313G>C (p.Leu771=) c.*2148G>C (n.*2148G>C) c.464G>C n.3492G>C n.2682G>C c.2496G>C (p.Leu832=) c.2451G>C (p.Leu817=) c.2406G>C (p.Leu802=) c.2475G>C (p.Leu825=) c.2460G>C (p.Leu820=) c.2439G>C (p.Leu813=) c.2433G>C (p.Leu811=) c.2388G>C (p.Leu796=) c.2379G>C (p.Leu793=) c.2355G>C (p.Leu785=) c.2349G>C (p.Leu783=) c.2322G>C (p.Leu774=) c.2316G>C (p.Leu772=) c.2310G>C (p.Leu770=) c.2259G>C (p.Leu753=) c.2178G>C (p.Leu726=) c.2308-273G>C (n.2308-273G>C) c.2100G>C (p.Leu700=) c.2208+1116G>C (n.2208+1116G>C) c.1320G>C (p.Leu440=) n.2596G>C | dbSNP |
| 17 | g.39724776G>T | CA499670867 | ERBB2 | c.2358G>T (p.Leu786=) c.2268G>T (p.Leu756=) c.1530G>T (p.Leu510=) c.2313G>T (p.Leu771=) c.*2148G>T (n.*2148G>T) c.464G>T n.3492G>T n.2682G>T c.2496G>T (p.Leu832=) c.2451G>T (p.Leu817=) c.2406G>T (p.Leu802=) c.2475G>T (p.Leu825=) c.2460G>T (p.Leu820=) c.2439G>T (p.Leu813=) c.2433G>T (p.Leu811=) c.2388G>T (p.Leu796=) c.2379G>T (p.Leu793=) c.2355G>T (p.Leu785=) c.2349G>T (p.Leu783=) c.2322G>T (p.Leu774=) c.2316G>T (p.Leu772=) c.2310G>T (p.Leu770=) c.2259G>T (p.Leu753=) c.2178G>T (p.Leu726=) c.2308-273G>T (n.2308-273G>T) c.2100G>T (p.Leu700=) c.2208+1116G>T (n.2208+1116G>T) c.1320G>T (p.Leu440=) n.2596G>T | dbSNP |
| 17 | g.39724778del | CA983631270 | ERBB2 | c.2360del (p.Gly787AlafsTer4) c.2270del (p.Gly757AlafsTer4) c.1532del (p.Gly511AlafsTer4) c.2315del (p.Gly772AlafsTer4) c.*2150del (n.*2150del) c.466del n.3494del n.2684del c.2498del (p.Gly833AlafsTer4) c.2453del (p.Gly818AlafsTer4) c.2408del (p.Gly803AlafsTer4) c.2477del (p.Gly826AlafsTer4) c.2462del (p.Gly821AlafsTer4) c.2441del (p.Gly814AlafsTer4) c.2435del (p.Gly812AlafsTer4) c.2390del (p.Gly797AlafsTer4) c.2381del (p.Gly794AlafsTer4) c.2357del (p.Gly786AlafsTer4) c.2351del (p.Gly784AlafsTer4) c.2324del (p.Gly775AlafsTer4) c.2318del (p.Gly773AlafsTer4) c.2312del (p.Gly771AlafsTer4) c.2261del (p.Gly754AlafsTer4) c.2180del (p.Gly727AlafsTer4) c.2308-271del (n.2308-271del) c.2102del (p.Gly701AlafsTer4) c.2208+1118del (n.2208+1118del) c.1322del (p.Gly441AlafsTer4) n.2598del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39724777G>A | CA399303001 | ERBB2 | c.2359G>A (p.Gly787Ser) c.2269G>A (p.Gly757Ser) c.1531G>A (p.Gly511Ser) c.2314G>A (p.Gly772Ser) c.*2149G>A (n.*2149G>A) c.465G>A n.3493G>A n.2683G>A c.2497G>A (p.Gly833Ser) c.2452G>A (p.Gly818Ser) c.2407G>A (p.Gly803Ser) c.2476G>A (p.Gly826Ser) c.2461G>A (p.Gly821Ser) c.2440G>A (p.Gly814Ser) c.2434G>A (p.Gly812Ser) c.2389G>A (p.Gly797Ser) c.2380G>A (p.Gly794Ser) c.2356G>A (p.Gly786Ser) c.2350G>A (p.Gly784Ser) c.2323G>A (p.Gly775Ser) c.2317G>A (p.Gly773Ser) c.2311G>A (p.Gly771Ser) c.2260G>A (p.Gly754Ser) c.2179G>A (p.Gly727Ser) c.2308-272G>A (n.2308-272G>A) c.2101G>A (p.Gly701Ser) c.2208+1117G>A (n.2208+1117G>A) c.1321G>A (p.Gly441Ser) n.2597G>A | dbSNP |
| 17 | g.39724777G>C | CA399303005 | ERBB2 | c.2359G>C (p.Gly787Arg) c.2269G>C (p.Gly757Arg) c.1531G>C (p.Gly511Arg) c.2314G>C (p.Gly772Arg) c.*2149G>C (n.*2149G>C) c.465G>C n.3493G>C n.2683G>C c.2497G>C (p.Gly833Arg) c.2452G>C (p.Gly818Arg) c.2407G>C (p.Gly803Arg) c.2476G>C (p.Gly826Arg) c.2461G>C (p.Gly821Arg) c.2440G>C (p.Gly814Arg) c.2434G>C (p.Gly812Arg) c.2389G>C (p.Gly797Arg) c.2380G>C (p.Gly794Arg) c.2356G>C (p.Gly786Arg) c.2350G>C (p.Gly784Arg) c.2323G>C (p.Gly775Arg) c.2317G>C (p.Gly773Arg) c.2311G>C (p.Gly771Arg) c.2260G>C (p.Gly754Arg) c.2179G>C (p.Gly727Arg) c.2308-272G>C (n.2308-272G>C) c.2101G>C (p.Gly701Arg) c.2208+1117G>C (n.2208+1117G>C) c.1321G>C (p.Gly441Arg) n.2597G>C | dbSNP |
| 17 | g.39724777G>T | CA399303004 | ERBB2 | c.2359G>T (p.Gly787Cys) c.2269G>T (p.Gly757Cys) c.1531G>T (p.Gly511Cys) c.2314G>T (p.Gly772Cys) c.*2149G>T (n.*2149G>T) c.465G>T n.3493G>T n.2683G>T c.2497G>T (p.Gly833Cys) c.2452G>T (p.Gly818Cys) c.2407G>T (p.Gly803Cys) c.2476G>T (p.Gly826Cys) c.2461G>T (p.Gly821Cys) c.2440G>T (p.Gly814Cys) c.2434G>T (p.Gly812Cys) c.2389G>T (p.Gly797Cys) c.2380G>T (p.Gly794Cys) c.2356G>T (p.Gly786Cys) c.2350G>T (p.Gly784Cys) c.2323G>T (p.Gly775Cys) c.2317G>T (p.Gly773Cys) c.2311G>T (p.Gly771Cys) c.2260G>T (p.Gly754Cys) c.2179G>T (p.Gly727Cys) c.2308-272G>T (n.2308-272G>T) c.2101G>T (p.Gly701Cys) c.2208+1117G>T (n.2208+1117G>T) c.1321G>T (p.Gly441Cys) n.2597G>T | dbSNP |
| 17 | g.39724778G>A | CA399303011 | ERBB2 | c.2360G>A (p.Gly787Asp) c.2270G>A (p.Gly757Asp) c.1532G>A (p.Gly511Asp) c.2315G>A (p.Gly772Asp) c.*2150G>A (n.*2150G>A) c.466G>A n.3494G>A n.2684G>A c.2498G>A (p.Gly833Asp) c.2453G>A (p.Gly818Asp) c.2408G>A (p.Gly803Asp) c.2477G>A (p.Gly826Asp) c.2462G>A (p.Gly821Asp) c.2441G>A (p.Gly814Asp) c.2435G>A (p.Gly812Asp) c.2390G>A (p.Gly797Asp) c.2381G>A (p.Gly794Asp) c.2357G>A (p.Gly786Asp) c.2351G>A (p.Gly784Asp) c.2324G>A (p.Gly775Asp) c.2318G>A (p.Gly773Asp) c.2312G>A (p.Gly771Asp) c.2261G>A (p.Gly754Asp) c.2180G>A (p.Gly727Asp) c.2308-271G>A (n.2308-271G>A) c.2102G>A (p.Gly701Asp) c.2208+1118G>A (n.2208+1118G>A) c.1322G>A (p.Gly441Asp) n.2598G>A | dbSNP |
| 17 | g.39724778G>C | CA399303026 | ERBB2 | c.2360G>C (p.Gly787Ala) c.2270G>C (p.Gly757Ala) c.1532G>C (p.Gly511Ala) c.2315G>C (p.Gly772Ala) c.*2150G>C (n.*2150G>C) c.466G>C n.3494G>C n.2684G>C c.2498G>C (p.Gly833Ala) c.2453G>C (p.Gly818Ala) c.2408G>C (p.Gly803Ala) c.2477G>C (p.Gly826Ala) c.2462G>C (p.Gly821Ala) c.2441G>C (p.Gly814Ala) c.2435G>C (p.Gly812Ala) c.2390G>C (p.Gly797Ala) c.2381G>C (p.Gly794Ala) c.2357G>C (p.Gly786Ala) c.2351G>C (p.Gly784Ala) c.2324G>C (p.Gly775Ala) c.2318G>C (p.Gly773Ala) c.2312G>C (p.Gly771Ala) c.2261G>C (p.Gly754Ala) c.2180G>C (p.Gly727Ala) c.2308-271G>C (n.2308-271G>C) c.2102G>C (p.Gly701Ala) c.2208+1118G>C (n.2208+1118G>C) c.1322G>C (p.Gly441Ala) n.2598G>C | dbSNP |
| 17 | g.39724778G>T | CA399303013 | ERBB2 | c.2360G>T (p.Gly787Val) c.2270G>T (p.Gly757Val) c.1532G>T (p.Gly511Val) c.2315G>T (p.Gly772Val) c.*2150G>T (n.*2150G>T) c.466G>T n.3494G>T n.2684G>T c.2498G>T (p.Gly833Val) c.2453G>T (p.Gly818Val) c.2408G>T (p.Gly803Val) c.2477G>T (p.Gly826Val) c.2462G>T (p.Gly821Val) c.2441G>T (p.Gly814Val) c.2435G>T (p.Gly812Val) c.2390G>T (p.Gly797Val) c.2381G>T (p.Gly794Val) c.2357G>T (p.Gly786Val) c.2351G>T (p.Gly784Val) c.2324G>T (p.Gly775Val) c.2318G>T (p.Gly773Val) c.2312G>T (p.Gly771Val) c.2261G>T (p.Gly754Val) c.2180G>T (p.Gly727Val) c.2308-271G>T (n.2308-271G>T) c.2102G>T (p.Gly701Val) c.2208+1118G>T (n.2208+1118G>T) c.1322G>T (p.Gly441Val) n.2598G>T | dbSNP gnomAD v4 |
| 17 | g.39724778_39724779del | CA2637621543 | ERBB2 | c.2360_2361del (p.Gly787AspfsTer?) c.2270_2271del (p.Gly757AspfsTer?) c.1532_1533del (p.Gly511AspfsTer?) c.2315_2316del (p.Gly772AspfsTer?) c.*2150_*2151del (n.*2150_*2151del) c.466_467del n.3494_3495del n.2684_2685del c.2498_2499del (p.Gly833AspfsTer?) c.2453_2454del (p.Gly818AspfsTer?) c.2408_2409del (p.Gly803AspfsTer?) c.2477_2478del (p.Gly826AspfsTer?) c.2462_2463del (p.Gly821AspfsTer?) c.2441_2442del (p.Gly814AspfsTer?) c.2435_2436del (p.Gly812AspfsTer?) c.2390_2391del (p.Gly797AspfsTer?) c.2381_2382del (p.Gly794AspfsTer?) c.2357_2358del (p.Gly786AspfsTer?) c.2351_2352del (p.Gly784AspfsTer?) c.2324_2325del (p.Gly775AspfsTer?) c.2318_2319del (p.Gly773AspfsTer?) c.2312_2313del (p.Gly771AspfsTer?) c.2261_2262del (p.Gly754AspfsTer?) c.2180_2181del (p.Gly727AspfsTer?) c.2308-271_2308-270del (n.2308-271_2308-270del) c.2102_2103del (p.Gly701AspfsTer?) c.2208+1118_2208+1119del (n.2208+1118_2208+1119del) c.1322_1323del (p.Gly441AspfsTer?) n.2598_2599del | gnomAD v4 |
| 17 | g.39724779C>A | CA499670870 | ERBB2 | c.2361C>A (p.Gly787=) c.2271C>A (p.Gly757=) c.1533C>A (p.Gly511=) c.2316C>A (p.Gly772=) c.*2151C>A (n.*2151C>A) c.467C>A n.3495C>A n.2685C>A c.2499C>A (p.Gly833=) c.2454C>A (p.Gly818=) c.2409C>A (p.Gly803=) c.2478C>A (p.Gly826=) c.2463C>A (p.Gly821=) c.2442C>A (p.Gly814=) c.2436C>A (p.Gly812=) c.2391C>A (p.Gly797=) c.2382C>A (p.Gly794=) c.2358C>A (p.Gly786=) c.2352C>A (p.Gly784=) c.2325C>A (p.Gly775=) c.2319C>A (p.Gly773=) c.2313C>A (p.Gly771=) c.2262C>A (p.Gly754=) c.2181C>A (p.Gly727=) c.2308-270C>A (n.2308-270C>A) c.2103C>A (p.Gly701=) c.2208+1119C>A (n.2208+1119C>A) c.1323C>A (p.Gly441=) n.2599C>A | dbSNP |
| 17 | g.39724779C= | CA2259228003 | ERBB2 | c.2361C= (p.Gly787=) c.2271C= (p.Gly757=) c.1533C= (p.Gly511=) c.2316C= (p.Gly772=) c.*2151C= (n.*2151C=) c.467C= n.3495C= n.2685C= c.2499C= (p.Gly833=) c.2454C= (p.Gly818=) c.2409C= (p.Gly803=) c.2478C= (p.Gly826=) c.2463C= (p.Gly821=) c.2442C= (p.Gly814=) c.2436C= (p.Gly812=) c.2391C= (p.Gly797=) c.2382C= (p.Gly794=) c.2358C= (p.Gly786=) c.2352C= (p.Gly784=) c.2325C= (p.Gly775=) c.2319C= (p.Gly773=) c.2313C= (p.Gly771=) c.2262C= (p.Gly754=) c.2181C= (p.Gly727=) c.2308-270C= (n.2308-270C=) c.2103C= (p.Gly701=) c.2208+1119C= (n.2208+1119C=) c.1323C= (p.Gly441=) n.2599C= | |
| 17 | g.39724779C>G | CA499670869 | ERBB2 | c.2361C>G (p.Gly787=) c.2271C>G (p.Gly757=) c.1533C>G (p.Gly511=) c.2316C>G (p.Gly772=) c.*2151C>G (n.*2151C>G) c.467C>G n.3495C>G n.2685C>G c.2499C>G (p.Gly833=) c.2454C>G (p.Gly818=) c.2409C>G (p.Gly803=) c.2478C>G (p.Gly826=) c.2463C>G (p.Gly821=) c.2442C>G (p.Gly814=) c.2436C>G (p.Gly812=) c.2391C>G (p.Gly797=) c.2382C>G (p.Gly794=) c.2358C>G (p.Gly786=) c.2352C>G (p.Gly784=) c.2325C>G (p.Gly775=) c.2319C>G (p.Gly773=) c.2313C>G (p.Gly771=) c.2262C>G (p.Gly754=) c.2181C>G (p.Gly727=) c.2308-270C>G (n.2308-270C>G) c.2103C>G (p.Gly701=) c.2208+1119C>G (n.2208+1119C>G) c.1323C>G (p.Gly441=) n.2599C>G | dbSNP |
| 17 | g.39724779C>T | CA499670868 | ERBB2 | c.2361C>T (p.Gly787=) c.2271C>T (p.Gly757=) c.1533C>T (p.Gly511=) c.2316C>T (p.Gly772=) c.*2151C>T (n.*2151C>T) c.467C>T n.3495C>T n.2685C>T c.2499C>T (p.Gly833=) c.2454C>T (p.Gly818=) c.2409C>T (p.Gly803=) c.2478C>T (p.Gly826=) c.2463C>T (p.Gly821=) c.2442C>T (p.Gly814=) c.2436C>T (p.Gly812=) c.2391C>T (p.Gly797=) c.2382C>T (p.Gly794=) c.2358C>T (p.Gly786=) c.2352C>T (p.Gly784=) c.2325C>T (p.Gly775=) c.2319C>T (p.Gly773=) c.2313C>T (p.Gly771=) c.2262C>T (p.Gly754=) c.2181C>T (p.Gly727=) c.2308-270C>T (n.2308-270C>T) c.2103C>T (p.Gly701=) c.2208+1119C>T (n.2208+1119C>T) c.1323C>T (p.Gly441=) n.2599C>T | dbSNP gnomAD v2 |
| 17 | g.39724780A>C | CA399303030 | ERBB2 | c.2362A>C (p.Ile788Leu) c.2272A>C (p.Ile758Leu) c.1534A>C (p.Ile512Leu) c.2317A>C (p.Ile773Leu) c.*2152A>C (n.*2152A>C) c.468A>C n.3496A>C n.2686A>C c.2500A>C (p.Ile834Leu) c.2455A>C (p.Ile819Leu) c.2410A>C (p.Ile804Leu) c.2479A>C (p.Ile827Leu) c.2464A>C (p.Ile822Leu) c.2443A>C (p.Ile815Leu) c.2437A>C (p.Ile813Leu) c.2392A>C (p.Ile798Leu) c.2383A>C (p.Ile795Leu) c.2359A>C (p.Ile787Leu) c.2353A>C (p.Ile785Leu) c.2326A>C (p.Ile776Leu) c.2320A>C (p.Ile774Leu) c.2314A>C (p.Ile772Leu) c.2263A>C (p.Ile755Leu) c.2182A>C (p.Ile728Leu) c.2308-269A>C (n.2308-269A>C) c.2104A>C (p.Ile702Leu) c.2208+1120A>C (n.2208+1120A>C) c.1324A>C (p.Ile442Leu) n.2600A>C | dbSNP |
| 17 | g.39724780A>G | CA399303037 | ERBB2 | c.2362A>G (p.Ile788Val) c.2272A>G (p.Ile758Val) c.1534A>G (p.Ile512Val) c.2317A>G (p.Ile773Val) c.*2152A>G (n.*2152A>G) c.468A>G n.3496A>G n.2686A>G c.2500A>G (p.Ile834Val) c.2455A>G (p.Ile819Val) c.2410A>G (p.Ile804Val) c.2479A>G (p.Ile827Val) c.2464A>G (p.Ile822Val) c.2443A>G (p.Ile815Val) c.2437A>G (p.Ile813Val) c.2392A>G (p.Ile798Val) c.2383A>G (p.Ile795Val) c.2359A>G (p.Ile787Val) c.2353A>G (p.Ile785Val) c.2326A>G (p.Ile776Val) c.2320A>G (p.Ile774Val) c.2314A>G (p.Ile772Val) c.2263A>G (p.Ile755Val) c.2182A>G (p.Ile728Val) c.2308-269A>G (n.2308-269A>G) c.2104A>G (p.Ile702Val) c.2208+1120A>G (n.2208+1120A>G) c.1324A>G (p.Ile442Val) n.2600A>G | dbSNP |
| 17 | g.39724780A>T | CA399303033 | ERBB2 | c.2362A>T (p.Ile788Phe) c.2272A>T (p.Ile758Phe) c.1534A>T (p.Ile512Phe) c.2317A>T (p.Ile773Phe) c.*2152A>T (n.*2152A>T) c.468A>T n.3496A>T n.2686A>T c.2500A>T (p.Ile834Phe) c.2455A>T (p.Ile819Phe) c.2410A>T (p.Ile804Phe) c.2479A>T (p.Ile827Phe) c.2464A>T (p.Ile822Phe) c.2443A>T (p.Ile815Phe) c.2437A>T (p.Ile813Phe) c.2392A>T (p.Ile798Phe) c.2383A>T (p.Ile795Phe) c.2359A>T (p.Ile787Phe) c.2353A>T (p.Ile785Phe) c.2326A>T (p.Ile776Phe) c.2320A>T (p.Ile774Phe) c.2314A>T (p.Ile772Phe) c.2263A>T (p.Ile755Phe) c.2182A>T (p.Ile728Phe) c.2308-269A>T (n.2308-269A>T) c.2104A>T (p.Ile702Phe) c.2208+1120A>T (n.2208+1120A>T) c.1324A>T (p.Ile442Phe) n.2600A>T | dbSNP |
| 17 | g.39724781T>A | CA399303038 | ERBB2 | c.2363T>A (p.Ile788Asn) c.2273T>A (p.Ile758Asn) c.1535T>A (p.Ile512Asn) c.2318T>A (p.Ile773Asn) c.*2153T>A (n.*2153T>A) c.469T>A n.3497T>A n.2687T>A c.2501T>A (p.Ile834Asn) c.2456T>A (p.Ile819Asn) c.2411T>A (p.Ile804Asn) c.2480T>A (p.Ile827Asn) c.2465T>A (p.Ile822Asn) c.2444T>A (p.Ile815Asn) c.2438T>A (p.Ile813Asn) c.2393T>A (p.Ile798Asn) c.2384T>A (p.Ile795Asn) c.2360T>A (p.Ile787Asn) c.2354T>A (p.Ile785Asn) c.2327T>A (p.Ile776Asn) c.2321T>A (p.Ile774Asn) c.2315T>A (p.Ile772Asn) c.2264T>A (p.Ile755Asn) c.2183T>A (p.Ile728Asn) c.2308-268T>A (n.2308-268T>A) c.2105T>A (p.Ile702Asn) c.2208+1121T>A (n.2208+1121T>A) c.1325T>A (p.Ile442Asn) n.2601T>A | dbSNP |
| 17 | g.39724781T>C | CA399303043 | ERBB2 | c.2363T>C (p.Ile788Thr) c.2273T>C (p.Ile758Thr) c.1535T>C (p.Ile512Thr) c.2318T>C (p.Ile773Thr) c.*2153T>C (n.*2153T>C) c.469T>C n.3497T>C n.2687T>C c.2501T>C (p.Ile834Thr) c.2456T>C (p.Ile819Thr) c.2411T>C (p.Ile804Thr) c.2480T>C (p.Ile827Thr) c.2465T>C (p.Ile822Thr) c.2444T>C (p.Ile815Thr) c.2438T>C (p.Ile813Thr) c.2393T>C (p.Ile798Thr) c.2384T>C (p.Ile795Thr) c.2360T>C (p.Ile787Thr) c.2354T>C (p.Ile785Thr) c.2327T>C (p.Ile776Thr) c.2321T>C (p.Ile774Thr) c.2315T>C (p.Ile772Thr) c.2264T>C (p.Ile755Thr) c.2183T>C (p.Ile728Thr) c.2308-268T>C (n.2308-268T>C) c.2105T>C (p.Ile702Thr) c.2208+1121T>C (n.2208+1121T>C) c.1325T>C (p.Ile442Thr) n.2601T>C | dbSNP |
| 17 | g.39724781T>G | CA399303039 | ERBB2 | c.2363T>G (p.Ile788Ser) c.2273T>G (p.Ile758Ser) c.1535T>G (p.Ile512Ser) c.2318T>G (p.Ile773Ser) c.*2153T>G (n.*2153T>G) c.469T>G n.3497T>G n.2687T>G c.2501T>G (p.Ile834Ser) c.2456T>G (p.Ile819Ser) c.2411T>G (p.Ile804Ser) c.2480T>G (p.Ile827Ser) c.2465T>G (p.Ile822Ser) c.2444T>G (p.Ile815Ser) c.2438T>G (p.Ile813Ser) c.2393T>G (p.Ile798Ser) c.2384T>G (p.Ile795Ser) c.2360T>G (p.Ile787Ser) c.2354T>G (p.Ile785Ser) c.2327T>G (p.Ile776Ser) c.2321T>G (p.Ile774Ser) c.2315T>G (p.Ile772Ser) c.2264T>G (p.Ile755Ser) c.2183T>G (p.Ile728Ser) c.2308-268T>G (n.2308-268T>G) c.2105T>G (p.Ile702Ser) c.2208+1121T>G (n.2208+1121T>G) c.1325T>G (p.Ile442Ser) n.2601T>G | |
| 17 | g.39724782C>A | CA499670871 | ERBB2 | c.2364C>A (p.Ile788=) c.2274C>A (p.Ile758=) c.1536C>A (p.Ile512=) c.2319C>A (p.Ile773=) c.*2154C>A (n.*2154C>A) c.470C>A n.3498C>A n.2688C>A c.2502C>A (p.Ile834=) c.2457C>A (p.Ile819=) c.2412C>A (p.Ile804=) c.2481C>A (p.Ile827=) c.2466C>A (p.Ile822=) c.2445C>A (p.Ile815=) c.2439C>A (p.Ile813=) c.2394C>A (p.Ile798=) c.2385C>A (p.Ile795=) c.2361C>A (p.Ile787=) c.2355C>A (p.Ile785=) c.2328C>A (p.Ile776=) c.2322C>A (p.Ile774=) c.2316C>A (p.Ile772=) c.2265C>A (p.Ile755=) c.2184C>A (p.Ile728=) c.2308-267C>A (n.2308-267C>A) c.2106C>A (p.Ile702=) c.2208+1122C>A (n.2208+1122C>A) c.1326C>A (p.Ile442=) n.2602C>A | |
| 17 | g.39724782C>G | CA399303047 | ERBB2 | c.2364C>G (p.Ile788Met) c.2274C>G (p.Ile758Met) c.1536C>G (p.Ile512Met) c.2319C>G (p.Ile773Met) c.*2154C>G (n.*2154C>G) c.470C>G n.3498C>G n.2688C>G c.2502C>G (p.Ile834Met) c.2457C>G (p.Ile819Met) c.2412C>G (p.Ile804Met) c.2481C>G (p.Ile827Met) c.2466C>G (p.Ile822Met) c.2445C>G (p.Ile815Met) c.2439C>G (p.Ile813Met) c.2394C>G (p.Ile798Met) c.2385C>G (p.Ile795Met) c.2361C>G (p.Ile787Met) c.2355C>G (p.Ile785Met) c.2328C>G (p.Ile776Met) c.2322C>G (p.Ile774Met) c.2316C>G (p.Ile772Met) c.2265C>G (p.Ile755Met) c.2184C>G (p.Ile728Met) c.2308-267C>G (n.2308-267C>G) c.2106C>G (p.Ile702Met) c.2208+1122C>G (n.2208+1122C>G) c.1326C>G (p.Ile442Met) n.2602C>G | |
| 17 | g.39724782C>T | CA499670872 | ERBB2 | c.2364C>T (p.Ile788=) c.2274C>T (p.Ile758=) c.1536C>T (p.Ile512=) c.2319C>T (p.Ile773=) c.*2154C>T (n.*2154C>T) c.470C>T n.3498C>T n.2688C>T c.2502C>T (p.Ile834=) c.2457C>T (p.Ile819=) c.2412C>T (p.Ile804=) c.2481C>T (p.Ile827=) c.2466C>T (p.Ile822=) c.2445C>T (p.Ile815=) c.2439C>T (p.Ile813=) c.2394C>T (p.Ile798=) c.2385C>T (p.Ile795=) c.2361C>T (p.Ile787=) c.2355C>T (p.Ile785=) c.2328C>T (p.Ile776=) c.2322C>T (p.Ile774=) c.2316C>T (p.Ile772=) c.2265C>T (p.Ile755=) c.2184C>T (p.Ile728=) c.2308-267C>T (n.2308-267C>T) c.2106C>T (p.Ile702=) c.2208+1122C>T (n.2208+1122C>T) c.1326C>T (p.Ile442=) n.2602C>T | dbSNP gnomAD v4 |
| 17 | g.39724783T>A | CA399303052 | ERBB2 | c.2365T>A (p.Cys789Ser) c.2275T>A (p.Cys759Ser) c.1537T>A (p.Cys513Ser) c.2320T>A (p.Cys774Ser) c.*2155T>A (n.*2155T>A) c.471T>A n.3499T>A n.2689T>A c.2503T>A (p.Cys835Ser) c.2458T>A (p.Cys820Ser) c.2413T>A (p.Cys805Ser) c.2482T>A (p.Cys828Ser) c.2467T>A (p.Cys823Ser) c.2446T>A (p.Cys816Ser) c.2440T>A (p.Cys814Ser) c.2395T>A (p.Cys799Ser) c.2386T>A (p.Cys796Ser) c.2362T>A (p.Cys788Ser) c.2356T>A (p.Cys786Ser) c.2329T>A (p.Cys777Ser) c.2323T>A (p.Cys775Ser) c.2317T>A (p.Cys773Ser) c.2266T>A (p.Cys756Ser) c.2185T>A (p.Cys729Ser) c.2308-266T>A (n.2308-266T>A) c.2107T>A (p.Cys703Ser) c.2208+1123T>A (n.2208+1123T>A) c.1327T>A (p.Cys443Ser) n.2603T>A | dbSNP |
| 17 | g.39724783T>C | CA399303053 | ERBB2 | c.2365T>C (p.Cys789Arg) c.2275T>C (p.Cys759Arg) c.1537T>C (p.Cys513Arg) c.2320T>C (p.Cys774Arg) c.*2155T>C (n.*2155T>C) c.471T>C n.3499T>C n.2689T>C c.2503T>C (p.Cys835Arg) c.2458T>C (p.Cys820Arg) c.2413T>C (p.Cys805Arg) c.2482T>C (p.Cys828Arg) c.2467T>C (p.Cys823Arg) c.2446T>C (p.Cys816Arg) c.2440T>C (p.Cys814Arg) c.2395T>C (p.Cys799Arg) c.2386T>C (p.Cys796Arg) c.2362T>C (p.Cys788Arg) c.2356T>C (p.Cys786Arg) c.2329T>C (p.Cys777Arg) c.2323T>C (p.Cys775Arg) c.2317T>C (p.Cys773Arg) c.2266T>C (p.Cys756Arg) c.2185T>C (p.Cys729Arg) c.2308-266T>C (n.2308-266T>C) c.2107T>C (p.Cys703Arg) c.2208+1123T>C (n.2208+1123T>C) c.1327T>C (p.Cys443Arg) n.2603T>C | dbSNP |
| 17 | g.39724783T>G | CA399303055 | ERBB2 | c.2365T>G (p.Cys789Gly) c.2275T>G (p.Cys759Gly) c.1537T>G (p.Cys513Gly) c.2320T>G (p.Cys774Gly) c.*2155T>G (n.*2155T>G) c.471T>G n.3499T>G n.2689T>G c.2503T>G (p.Cys835Gly) c.2458T>G (p.Cys820Gly) c.2413T>G (p.Cys805Gly) c.2482T>G (p.Cys828Gly) c.2467T>G (p.Cys823Gly) c.2446T>G (p.Cys816Gly) c.2440T>G (p.Cys814Gly) c.2395T>G (p.Cys799Gly) c.2386T>G (p.Cys796Gly) c.2362T>G (p.Cys788Gly) c.2356T>G (p.Cys786Gly) c.2329T>G (p.Cys777Gly) c.2323T>G (p.Cys775Gly) c.2317T>G (p.Cys773Gly) c.2266T>G (p.Cys756Gly) c.2185T>G (p.Cys729Gly) c.2308-266T>G (n.2308-266T>G) c.2107T>G (p.Cys703Gly) c.2208+1123T>G (n.2208+1123T>G) c.1327T>G (p.Cys443Gly) n.2603T>G | |
| 17 | g.39724784G>A | CA399303059 | ERBB2 | c.2366G>A (p.Cys789Tyr) c.2276G>A (p.Cys759Tyr) c.1538G>A (p.Cys513Tyr) c.2321G>A (p.Cys774Tyr) c.*2156G>A (n.*2156G>A) c.472G>A n.3500G>A n.2690G>A c.2504G>A (p.Cys835Tyr) c.2459G>A (p.Cys820Tyr) c.2414G>A (p.Cys805Tyr) c.2483G>A (p.Cys828Tyr) c.2468G>A (p.Cys823Tyr) c.2447G>A (p.Cys816Tyr) c.2441G>A (p.Cys814Tyr) c.2396G>A (p.Cys799Tyr) c.2387G>A (p.Cys796Tyr) c.2363G>A (p.Cys788Tyr) c.2357G>A (p.Cys786Tyr) c.2330G>A (p.Cys777Tyr) c.2324G>A (p.Cys775Tyr) c.2318G>A (p.Cys773Tyr) c.2267G>A (p.Cys756Tyr) c.2186G>A (p.Cys729Tyr) c.2308-265G>A (n.2308-265G>A) c.2108G>A (p.Cys703Tyr) c.2208+1124G>A (n.2208+1124G>A) c.1328G>A (p.Cys443Tyr) n.2604G>A | COSMIC COSMIC |
| 17 | g.39724784G>C | CA399303062 | ERBB2 | c.2366G>C (p.Cys789Ser) c.2276G>C (p.Cys759Ser) c.1538G>C (p.Cys513Ser) c.2321G>C (p.Cys774Ser) c.*2156G>C (n.*2156G>C) c.472G>C n.3500G>C n.2690G>C c.2504G>C (p.Cys835Ser) c.2459G>C (p.Cys820Ser) c.2414G>C (p.Cys805Ser) c.2483G>C (p.Cys828Ser) c.2468G>C (p.Cys823Ser) c.2447G>C (p.Cys816Ser) c.2441G>C (p.Cys814Ser) c.2396G>C (p.Cys799Ser) c.2387G>C (p.Cys796Ser) c.2363G>C (p.Cys788Ser) c.2357G>C (p.Cys786Ser) c.2330G>C (p.Cys777Ser) c.2324G>C (p.Cys775Ser) c.2318G>C (p.Cys773Ser) c.2267G>C (p.Cys756Ser) c.2186G>C (p.Cys729Ser) c.2308-265G>C (n.2308-265G>C) c.2108G>C (p.Cys703Ser) c.2208+1124G>C (n.2208+1124G>C) c.1328G>C (p.Cys443Ser) n.2604G>C | |
| 17 | g.39724784G>T | CA399303063 | ERBB2 | c.2366G>T (p.Cys789Phe) c.2276G>T (p.Cys759Phe) c.1538G>T (p.Cys513Phe) c.2321G>T (p.Cys774Phe) c.*2156G>T (n.*2156G>T) c.472G>T n.3500G>T n.2690G>T c.2504G>T (p.Cys835Phe) c.2459G>T (p.Cys820Phe) c.2414G>T (p.Cys805Phe) c.2483G>T (p.Cys828Phe) c.2468G>T (p.Cys823Phe) c.2447G>T (p.Cys816Phe) c.2441G>T (p.Cys814Phe) c.2396G>T (p.Cys799Phe) c.2387G>T (p.Cys796Phe) c.2363G>T (p.Cys788Phe) c.2357G>T (p.Cys786Phe) c.2330G>T (p.Cys777Phe) c.2324G>T (p.Cys775Phe) c.2318G>T (p.Cys773Phe) c.2267G>T (p.Cys756Phe) c.2186G>T (p.Cys729Phe) c.2308-265G>T (n.2308-265G>T) c.2108G>T (p.Cys703Phe) c.2208+1124G>T (n.2208+1124G>T) c.1328G>T (p.Cys443Phe) n.2604G>T | |
| 17 | g.39724785C>A | CA399303068 | ERBB2 | c.2367C>A (p.Cys789Ter) c.2277C>A (p.Cys759Ter) c.1539C>A (p.Cys513Ter) c.2322C>A (p.Cys774Ter) c.*2157C>A (n.*2157C>A) c.473C>A n.3501C>A n.2691C>A c.2505C>A (p.Cys835Ter) c.2460C>A (p.Cys820Ter) c.2415C>A (p.Cys805Ter) c.2484C>A (p.Cys828Ter) c.2469C>A (p.Cys823Ter) c.2448C>A (p.Cys816Ter) c.2442C>A (p.Cys814Ter) c.2397C>A (p.Cys799Ter) c.2388C>A (p.Cys796Ter) c.2364C>A (p.Cys788Ter) c.2358C>A (p.Cys786Ter) c.2331C>A (p.Cys777Ter) c.2325C>A (p.Cys775Ter) c.2319C>A (p.Cys773Ter) c.2268C>A (p.Cys756Ter) c.2187C>A (p.Cys729Ter) c.2308-264C>A (n.2308-264C>A) c.2109C>A (p.Cys703Ter) c.2208+1125C>A (n.2208+1125C>A) c.1329C>A (p.Cys443Ter) n.2605C>A | dbSNP |
| 17 | g.39724785C= | CA2259228004 | ERBB2 | c.2367C= (p.Cys789=) c.2277C= (p.Cys759=) c.1539C= (p.Cys513=) c.2322C= (p.Cys774=) c.*2157C= (n.*2157C=) c.473C= n.3501C= n.2691C= c.2505C= (p.Cys835=) c.2460C= (p.Cys820=) c.2415C= (p.Cys805=) c.2484C= (p.Cys828=) c.2469C= (p.Cys823=) c.2448C= (p.Cys816=) c.2442C= (p.Cys814=) c.2397C= (p.Cys799=) c.2388C= (p.Cys796=) c.2364C= (p.Cys788=) c.2358C= (p.Cys786=) c.2331C= (p.Cys777=) c.2325C= (p.Cys775=) c.2319C= (p.Cys773=) c.2268C= (p.Cys756=) c.2187C= (p.Cys729=) c.2308-264C= (n.2308-264C=) c.2109C= (p.Cys703=) c.2208+1125C= (n.2208+1125C=) c.1329C= (p.Cys443=) n.2605C= | |
| 17 | g.39724785C>G | CA399303070 | ERBB2 | c.2367C>G (p.Cys789Trp) c.2277C>G (p.Cys759Trp) c.1539C>G (p.Cys513Trp) c.2322C>G (p.Cys774Trp) c.*2157C>G (n.*2157C>G) c.473C>G n.3501C>G n.2691C>G c.2505C>G (p.Cys835Trp) c.2460C>G (p.Cys820Trp) c.2415C>G (p.Cys805Trp) c.2484C>G (p.Cys828Trp) c.2469C>G (p.Cys823Trp) c.2448C>G (p.Cys816Trp) c.2442C>G (p.Cys814Trp) c.2397C>G (p.Cys799Trp) c.2388C>G (p.Cys796Trp) c.2364C>G (p.Cys788Trp) c.2358C>G (p.Cys786Trp) c.2331C>G (p.Cys777Trp) c.2325C>G (p.Cys775Trp) c.2319C>G (p.Cys773Trp) c.2268C>G (p.Cys756Trp) c.2187C>G (p.Cys729Trp) c.2308-264C>G (n.2308-264C>G) c.2109C>G (p.Cys703Trp) c.2208+1125C>G (n.2208+1125C>G) c.1329C>G (p.Cys443Trp) n.2605C>G | dbSNP |
| 17 | g.39724785C>T | CA499670873 | ERBB2 | c.2367C>T (p.Cys789=) c.2277C>T (p.Cys759=) c.1539C>T (p.Cys513=) c.2322C>T (p.Cys774=) c.*2157C>T (n.*2157C>T) c.473C>T n.3501C>T n.2691C>T c.2505C>T (p.Cys835=) c.2460C>T (p.Cys820=) c.2415C>T (p.Cys805=) c.2484C>T (p.Cys828=) c.2469C>T (p.Cys823=) c.2448C>T (p.Cys816=) c.2442C>T (p.Cys814=) c.2397C>T (p.Cys799=) c.2388C>T (p.Cys796=) c.2364C>T (p.Cys788=) c.2358C>T (p.Cys786=) c.2331C>T (p.Cys777=) c.2325C>T (p.Cys775=) c.2319C>T (p.Cys773=) c.2268C>T (p.Cys756=) c.2187C>T (p.Cys729=) c.2308-264C>T (n.2308-264C>T) c.2109C>T (p.Cys703=) c.2208+1125C>T (n.2208+1125C>T) c.1329C>T (p.Cys443=) n.2605C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39724786C>A | CA399303074 | ERBB2 | c.2368C>A (p.Leu790Met) c.2278C>A (p.Leu760Met) c.1540C>A (p.Leu514Met) c.2323C>A (p.Leu775Met) c.*2158C>A (n.*2158C>A) c.474C>A n.3502C>A n.2692C>A c.2506C>A (p.Leu836Met) c.2461C>A (p.Leu821Met) c.2416C>A (p.Leu806Met) c.2485C>A (p.Leu829Met) c.2470C>A (p.Leu824Met) c.2449C>A (p.Leu817Met) c.2443C>A (p.Leu815Met) c.2398C>A (p.Leu800Met) c.2389C>A (p.Leu797Met) c.2365C>A (p.Leu789Met) c.2359C>A (p.Leu787Met) c.2332C>A (p.Leu778Met) c.2326C>A (p.Leu776Met) c.2320C>A (p.Leu774Met) c.2269C>A (p.Leu757Met) c.2188C>A (p.Leu730Met) c.2308-263C>A (n.2308-263C>A) c.2110C>A (p.Leu704Met) c.2208+1126C>A (n.2208+1126C>A) c.1330C>A (p.Leu444Met) n.2606C>A | dbSNP |