UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39724749_39724757dup | CA135394 | ERBB2 | c.2331_2339dup (p.Pro780_Tyr781insGlySerPro) c.2241_2249dup (p.Pro750_Tyr751insGlySerPro) c.1503_1511dup (p.Pro504_Tyr505insGlySerPro) c.2286_2294dup (p.Pro765_Tyr766insGlySerPro) c.*2121_*2129dup (n.*2121_*2129dup) c.437_445dup n.3465_3473dup n.2655_2663dup c.2469_2477dup (p.Pro826_Tyr827insGlySerPro) c.2424_2432dup (p.Pro811_Tyr812insGlySerPro) c.2379_2387dup (p.Pro796_Tyr797insGlySerPro) c.2448_2456dup (p.Pro819_Tyr820insGlySerPro) c.2433_2441dup (p.Pro814_Tyr815insGlySerPro) c.2412_2420dup (p.Pro807_Tyr808insGlySerPro) c.2406_2414dup (p.Pro805_Tyr806insGlySerPro) c.2361_2369dup (p.Pro790_Tyr791insGlySerPro) c.2352_2360dup (p.Pro787_Tyr788insGlySerPro) c.2328_2336dup (p.Pro779_Tyr780insGlySerPro) c.2322_2330dup (p.Pro777_Tyr778insGlySerPro) c.2295_2303dup (p.Pro768_Tyr769insGlySerPro) c.2289_2297dup (p.Pro766_Tyr767insGlySerPro) c.2283_2291dup (p.Pro764_Tyr765insGlySerPro) c.2232_2240dup (p.Pro747_Tyr748insGlySerPro) c.2151_2159dup (p.Pro720_Tyr721insGlySerPro) c.2308-300_2308-292dup (n.2308-300_2308-292dup) c.2073_2081dup (p.Pro694_Tyr695insGlySerPro) c.2208+1089_2208+1097dup (n.2208+1089_2208+1097dup) c.1293_1301dup (p.Pro434_Tyr435insGlySerPro) n.2569_2577dup | ClinVar dbSNP COSMIC |
| 17 | g.39724757_39724758insTGGCTCCCC | CA645578286 | ERBB2 | c.2339_2340insTGGCTCCCC (p.Pro780_Tyr781insGlySerPro) c.2249_2250insTGGCTCCCC (p.Pro750_Tyr751insGlySerPro) c.1511_1512insTGGCTCCCC (p.Pro504_Tyr505insGlySerPro) c.2294_2295insTGGCTCCCC (p.Pro765_Tyr766insGlySerPro) c.*2129_*2130insTGGCTCCCC (n.*2129_*2130insTGGCTCCCC) c.445_446insTGGCTCCCC n.3473_3474insTGGCTCCCC n.2663_2664insTGGCTCCCC c.2477_2478insTGGCTCCCC (p.Pro826_Tyr827insGlySerPro) c.2432_2433insTGGCTCCCC (p.Pro811_Tyr812insGlySerPro) c.2387_2388insTGGCTCCCC (p.Pro796_Tyr797insGlySerPro) c.2456_2457insTGGCTCCCC (p.Pro819_Tyr820insGlySerPro) c.2441_2442insTGGCTCCCC (p.Pro814_Tyr815insGlySerPro) c.2420_2421insTGGCTCCCC (p.Pro807_Tyr808insGlySerPro) c.2414_2415insTGGCTCCCC (p.Pro805_Tyr806insGlySerPro) c.2369_2370insTGGCTCCCC (p.Pro790_Tyr791insGlySerPro) c.2360_2361insTGGCTCCCC (p.Pro787_Tyr788insGlySerPro) c.2336_2337insTGGCTCCCC (p.Pro779_Tyr780insGlySerPro) c.2330_2331insTGGCTCCCC (p.Pro777_Tyr778insGlySerPro) c.2303_2304insTGGCTCCCC (p.Pro768_Tyr769insGlySerPro) c.2297_2298insTGGCTCCCC (p.Pro766_Tyr767insGlySerPro) c.2291_2292insTGGCTCCCC (p.Pro764_Tyr765insGlySerPro) c.2240_2241insTGGCTCCCC (p.Pro747_Tyr748insGlySerPro) c.2159_2160insTGGCTCCCC (p.Pro720_Tyr721insGlySerPro) c.2308-292_2308-291insTGGCTCCCC (n.2308-292_2308-291insTGGCTCCCC) c.2081_2082insTGGCTCCCC (p.Pro694_Tyr695insGlySerPro) c.2208+1097_2208+1098insTGGCTCCCC (n.2208+1097_2208+1098insTGGCTCCCC) c.1301_1302insTGGCTCCCC (p.Pro434_Tyr435insGlySerPro) n.2577_2578insTGGCTCCCC | dbSNP COSMIC |
| 17 | g.39724750_39724758dup | CA135401 | ERBB2 | c.2332_2340dup (p.Pro780_Tyr781insGlySerPro) c.2242_2250dup (p.Pro750_Tyr751insGlySerPro) c.1504_1512dup (p.Pro504_Tyr505insGlySerPro) c.2287_2295dup (p.Pro765_Tyr766insGlySerPro) c.*2122_*2130dup (n.*2122_*2130dup) c.438_446dup n.3466_3474dup n.2656_2664dup c.2470_2478dup (p.Pro826_Tyr827insGlySerPro) c.2425_2433dup (p.Pro811_Tyr812insGlySerPro) c.2380_2388dup (p.Pro796_Tyr797insGlySerPro) c.2449_2457dup (p.Pro819_Tyr820insGlySerPro) c.2434_2442dup (p.Pro814_Tyr815insGlySerPro) c.2413_2421dup (p.Pro807_Tyr808insGlySerPro) c.2407_2415dup (p.Pro805_Tyr806insGlySerPro) c.2362_2370dup (p.Pro790_Tyr791insGlySerPro) c.2353_2361dup (p.Pro787_Tyr788insGlySerPro) c.2329_2337dup (p.Pro779_Tyr780insGlySerPro) c.2323_2331dup (p.Pro777_Tyr778insGlySerPro) c.2296_2304dup (p.Pro768_Tyr769insGlySerPro) c.2290_2298dup (p.Pro766_Tyr767insGlySerPro) c.2284_2292dup (p.Pro764_Tyr765insGlySerPro) c.2233_2241dup (p.Pro747_Tyr748insGlySerPro) c.2152_2160dup (p.Pro720_Tyr721insGlySerPro) c.2308-299_2308-291dup (n.2308-299_2308-291dup) c.2074_2082dup (p.Pro694_Tyr695insGlySerPro) c.2208+1090_2208+1098dup (n.2208+1090_2208+1098dup) c.1294_1302dup (p.Pro434_Tyr435insGlySerPro) n.2570_2578dup | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 17 | g.39724755C>A | CA499670847 | ERBB2 | c.2337C>A (p.Ser779=) c.2247C>A (p.Ser749=) c.1509C>A (p.Ser503=) c.2292C>A (p.Ser764=) c.*2127C>A (n.*2127C>A) c.443C>A n.3471C>A n.2661C>A c.2475C>A (p.Ser825=) c.2430C>A (p.Ser810=) c.2385C>A (p.Ser795=) c.2454C>A (p.Ser818=) c.2439C>A (p.Ser813=) c.2418C>A (p.Ser806=) c.2412C>A (p.Ser804=) c.2367C>A (p.Ser789=) c.2358C>A (p.Ser786=) c.2334C>A (p.Ser778=) c.2328C>A (p.Ser776=) c.2301C>A (p.Ser767=) c.2295C>A (p.Ser765=) c.2289C>A (p.Ser763=) c.2238C>A (p.Ser746=) c.2157C>A (p.Ser719=) c.2308-294C>A (n.2308-294C>A) c.2079C>A (p.Ser693=) c.2208+1095C>A (n.2208+1095C>A) c.1299C>A (p.Ser433=) n.2575C>A | dbSNP |
| 17 | g.39724755C= | CA2259227994 | ERBB2 | c.2337C= (p.Ser779=) c.2247C= (p.Ser749=) c.1509C= (p.Ser503=) c.2292C= (p.Ser764=) c.*2127C= (n.*2127C=) c.443C= n.3471C= n.2661C= c.2475C= (p.Ser825=) c.2430C= (p.Ser810=) c.2385C= (p.Ser795=) c.2454C= (p.Ser818=) c.2439C= (p.Ser813=) c.2418C= (p.Ser806=) c.2412C= (p.Ser804=) c.2367C= (p.Ser789=) c.2358C= (p.Ser786=) c.2334C= (p.Ser778=) c.2328C= (p.Ser776=) c.2301C= (p.Ser767=) c.2295C= (p.Ser765=) c.2289C= (p.Ser763=) c.2238C= (p.Ser746=) c.2157C= (p.Ser719=) c.2308-294C= (n.2308-294C=) c.2079C= (p.Ser693=) c.2208+1095C= (n.2208+1095C=) c.1299C= (p.Ser433=) n.2575C= | |
| 17 | g.39724755C>G | CA499670848 | ERBB2 | c.2337C>G (p.Ser779=) c.2247C>G (p.Ser749=) c.1509C>G (p.Ser503=) c.2292C>G (p.Ser764=) c.*2127C>G (n.*2127C>G) c.443C>G n.3471C>G n.2661C>G c.2475C>G (p.Ser825=) c.2430C>G (p.Ser810=) c.2385C>G (p.Ser795=) c.2454C>G (p.Ser818=) c.2439C>G (p.Ser813=) c.2418C>G (p.Ser806=) c.2412C>G (p.Ser804=) c.2367C>G (p.Ser789=) c.2358C>G (p.Ser786=) c.2334C>G (p.Ser778=) c.2328C>G (p.Ser776=) c.2301C>G (p.Ser767=) c.2295C>G (p.Ser765=) c.2289C>G (p.Ser763=) c.2238C>G (p.Ser746=) c.2157C>G (p.Ser719=) c.2308-294C>G (n.2308-294C>G) c.2079C>G (p.Ser693=) c.2208+1095C>G (n.2208+1095C>G) c.1299C>G (p.Ser433=) n.2575C>G | dbSNP |
| 17 | g.39724755C>T | CA8534284 | ERBB2 | c.2337C>T (p.Ser779=) c.2247C>T (p.Ser749=) c.1509C>T (p.Ser503=) c.2292C>T (p.Ser764=) c.*2127C>T (n.*2127C>T) c.443C>T n.3471C>T n.2661C>T c.2475C>T (p.Ser825=) c.2430C>T (p.Ser810=) c.2385C>T (p.Ser795=) c.2454C>T (p.Ser818=) c.2439C>T (p.Ser813=) c.2418C>T (p.Ser806=) c.2412C>T (p.Ser804=) c.2367C>T (p.Ser789=) c.2358C>T (p.Ser786=) c.2334C>T (p.Ser778=) c.2328C>T (p.Ser776=) c.2301C>T (p.Ser767=) c.2295C>T (p.Ser765=) c.2289C>T (p.Ser763=) c.2238C>T (p.Ser746=) c.2157C>T (p.Ser719=) c.2308-294C>T (n.2308-294C>T) c.2079C>T (p.Ser693=) c.2208+1095C>T (n.2208+1095C>T) c.1299C>T (p.Ser433=) n.2575C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39724756C>A | CA399302884 | ERBB2 | c.2338C>A (p.Pro780Thr) c.2248C>A (p.Pro750Thr) c.1510C>A (p.Pro504Thr) c.2293C>A (p.Pro765Thr) c.*2128C>A (n.*2128C>A) c.444C>A n.3472C>A n.2662C>A c.2476C>A (p.Pro826Thr) c.2431C>A (p.Pro811Thr) c.2386C>A (p.Pro796Thr) c.2455C>A (p.Pro819Thr) c.2440C>A (p.Pro814Thr) c.2419C>A (p.Pro807Thr) c.2413C>A (p.Pro805Thr) c.2368C>A (p.Pro790Thr) c.2359C>A (p.Pro787Thr) c.2335C>A (p.Pro779Thr) c.2329C>A (p.Pro777Thr) c.2302C>A (p.Pro768Thr) c.2296C>A (p.Pro766Thr) c.2290C>A (p.Pro764Thr) c.2239C>A (p.Pro747Thr) c.2158C>A (p.Pro720Thr) c.2308-293C>A (n.2308-293C>A) c.2080C>A (p.Pro694Thr) c.2208+1096C>A (n.2208+1096C>A) c.1300C>A (p.Pro434Thr) n.2576C>A | dbSNP COSMIC |
| 17 | g.39724756C= | CA2259227995 | ERBB2 | c.2338C= (p.Pro780=) c.2248C= (p.Pro750=) c.1510C= (p.Pro504=) c.2293C= (p.Pro765=) c.*2128C= (n.*2128C=) c.444C= n.3472C= n.2662C= c.2476C= (p.Pro826=) c.2431C= (p.Pro811=) c.2386C= (p.Pro796=) c.2455C= (p.Pro819=) c.2440C= (p.Pro814=) c.2419C= (p.Pro807=) c.2413C= (p.Pro805=) c.2368C= (p.Pro790=) c.2359C= (p.Pro787=) c.2335C= (p.Pro779=) c.2329C= (p.Pro777=) c.2302C= (p.Pro768=) c.2296C= (p.Pro766=) c.2290C= (p.Pro764=) c.2239C= (p.Pro747=) c.2158C= (p.Pro720=) c.2308-293C= (n.2308-293C=) c.2080C= (p.Pro694=) c.2208+1096C= (n.2208+1096C=) c.1300C= (p.Pro434=) n.2576C= | |
| 17 | g.39724756C>G | CA399302885 | ERBB2 | c.2338C>G (p.Pro780Ala) c.2248C>G (p.Pro750Ala) c.1510C>G (p.Pro504Ala) c.2293C>G (p.Pro765Ala) c.*2128C>G (n.*2128C>G) c.444C>G n.3472C>G n.2662C>G c.2476C>G (p.Pro826Ala) c.2431C>G (p.Pro811Ala) c.2386C>G (p.Pro796Ala) c.2455C>G (p.Pro819Ala) c.2440C>G (p.Pro814Ala) c.2419C>G (p.Pro807Ala) c.2413C>G (p.Pro805Ala) c.2368C>G (p.Pro790Ala) c.2359C>G (p.Pro787Ala) c.2335C>G (p.Pro779Ala) c.2329C>G (p.Pro777Ala) c.2302C>G (p.Pro768Ala) c.2296C>G (p.Pro766Ala) c.2290C>G (p.Pro764Ala) c.2239C>G (p.Pro747Ala) c.2158C>G (p.Pro720Ala) c.2308-293C>G (n.2308-293C>G) c.2080C>G (p.Pro694Ala) c.2208+1096C>G (n.2208+1096C>G) c.1300C>G (p.Pro434Ala) n.2576C>G | dbSNP |
| 17 | g.39724756C>T | CA399302886 | ERBB2 | c.2338C>T (p.Pro780Ser) c.2248C>T (p.Pro750Ser) c.1510C>T (p.Pro504Ser) c.2293C>T (p.Pro765Ser) c.*2128C>T (n.*2128C>T) c.444C>T n.3472C>T n.2662C>T c.2476C>T (p.Pro826Ser) c.2431C>T (p.Pro811Ser) c.2386C>T (p.Pro796Ser) c.2455C>T (p.Pro819Ser) c.2440C>T (p.Pro814Ser) c.2419C>T (p.Pro807Ser) c.2413C>T (p.Pro805Ser) c.2368C>T (p.Pro790Ser) c.2359C>T (p.Pro787Ser) c.2335C>T (p.Pro779Ser) c.2329C>T (p.Pro777Ser) c.2302C>T (p.Pro768Ser) c.2296C>T (p.Pro766Ser) c.2290C>T (p.Pro764Ser) c.2239C>T (p.Pro747Ser) c.2158C>T (p.Pro720Ser) c.2308-293C>T (n.2308-293C>T) c.2080C>T (p.Pro694Ser) c.2208+1096C>T (n.2208+1096C>T) c.1300C>T (p.Pro434Ser) n.2576C>T | dbSNP gnomAD v2 COSMIC |
| 17 | g.39724757C>A | CA399302887 | ERBB2 | c.2339C>A (p.Pro780Gln) c.2249C>A (p.Pro750Gln) c.1511C>A (p.Pro504Gln) c.2294C>A (p.Pro765Gln) c.*2129C>A (n.*2129C>A) c.445C>A n.3473C>A n.2663C>A c.2477C>A (p.Pro826Gln) c.2432C>A (p.Pro811Gln) c.2387C>A (p.Pro796Gln) c.2456C>A (p.Pro819Gln) c.2441C>A (p.Pro814Gln) c.2420C>A (p.Pro807Gln) c.2414C>A (p.Pro805Gln) c.2369C>A (p.Pro790Gln) c.2360C>A (p.Pro787Gln) c.2336C>A (p.Pro779Gln) c.2330C>A (p.Pro777Gln) c.2303C>A (p.Pro768Gln) c.2297C>A (p.Pro766Gln) c.2291C>A (p.Pro764Gln) c.2240C>A (p.Pro747Gln) c.2159C>A (p.Pro720Gln) c.2308-292C>A (n.2308-292C>A) c.2081C>A (p.Pro694Gln) c.2208+1097C>A (n.2208+1097C>A) c.1301C>A (p.Pro434Gln) n.2577C>A | dbSNP |
| 17 | g.39724757C>G | CA399302888 | ERBB2 | c.2339C>G (p.Pro780Arg) c.2249C>G (p.Pro750Arg) c.1511C>G (p.Pro504Arg) c.2294C>G (p.Pro765Arg) c.*2129C>G (n.*2129C>G) c.445C>G n.3473C>G n.2663C>G c.2477C>G (p.Pro826Arg) c.2432C>G (p.Pro811Arg) c.2387C>G (p.Pro796Arg) c.2456C>G (p.Pro819Arg) c.2441C>G (p.Pro814Arg) c.2420C>G (p.Pro807Arg) c.2414C>G (p.Pro805Arg) c.2369C>G (p.Pro790Arg) c.2360C>G (p.Pro787Arg) c.2336C>G (p.Pro779Arg) c.2330C>G (p.Pro777Arg) c.2303C>G (p.Pro768Arg) c.2297C>G (p.Pro766Arg) c.2291C>G (p.Pro764Arg) c.2240C>G (p.Pro747Arg) c.2159C>G (p.Pro720Arg) c.2308-292C>G (n.2308-292C>G) c.2081C>G (p.Pro694Arg) c.2208+1097C>G (n.2208+1097C>G) c.1301C>G (p.Pro434Arg) n.2577C>G | dbSNP |
| 17 | g.39724757C>T | CA399302889 | ERBB2 | c.2339C>T (p.Pro780Leu) c.2249C>T (p.Pro750Leu) c.1511C>T (p.Pro504Leu) c.2294C>T (p.Pro765Leu) c.*2129C>T (n.*2129C>T) c.445C>T n.3473C>T n.2663C>T c.2477C>T (p.Pro826Leu) c.2432C>T (p.Pro811Leu) c.2387C>T (p.Pro796Leu) c.2456C>T (p.Pro819Leu) c.2441C>T (p.Pro814Leu) c.2420C>T (p.Pro807Leu) c.2414C>T (p.Pro805Leu) c.2369C>T (p.Pro790Leu) c.2360C>T (p.Pro787Leu) c.2336C>T (p.Pro779Leu) c.2330C>T (p.Pro777Leu) c.2303C>T (p.Pro768Leu) c.2297C>T (p.Pro766Leu) c.2291C>T (p.Pro764Leu) c.2240C>T (p.Pro747Leu) c.2159C>T (p.Pro720Leu) c.2308-292C>T (n.2308-292C>T) c.2081C>T (p.Pro694Leu) c.2208+1097C>T (n.2208+1097C>T) c.1301C>T (p.Pro434Leu) n.2577C>T | dbSNP |
| 17 | g.39724758A>C | CA499670849 | ERBB2 | c.2340A>C (p.Pro780=) c.2250A>C (p.Pro750=) c.1512A>C (p.Pro504=) c.2295A>C (p.Pro765=) c.*2130A>C (n.*2130A>C) c.446A>C n.3474A>C n.2664A>C c.2478A>C (p.Pro826=) c.2433A>C (p.Pro811=) c.2388A>C (p.Pro796=) c.2457A>C (p.Pro819=) c.2442A>C (p.Pro814=) c.2421A>C (p.Pro807=) c.2415A>C (p.Pro805=) c.2370A>C (p.Pro790=) c.2361A>C (p.Pro787=) c.2337A>C (p.Pro779=) c.2331A>C (p.Pro777=) c.2304A>C (p.Pro768=) c.2298A>C (p.Pro766=) c.2292A>C (p.Pro764=) c.2241A>C (p.Pro747=) c.2160A>C (p.Pro720=) c.2308-291A>C (n.2308-291A>C) c.2082A>C (p.Pro694=) c.2208+1098A>C (n.2208+1098A>C) c.1302A>C (p.Pro434=) n.2578A>C | dbSNP gnomAD v4 |
| 17 | g.39724758A>G | CA499670850 | ERBB2 | c.2340A>G (p.Pro780=) c.2250A>G (p.Pro750=) c.1512A>G (p.Pro504=) c.2295A>G (p.Pro765=) c.*2130A>G (n.*2130A>G) c.446A>G n.3474A>G n.2664A>G c.2478A>G (p.Pro826=) c.2433A>G (p.Pro811=) c.2388A>G (p.Pro796=) c.2457A>G (p.Pro819=) c.2442A>G (p.Pro814=) c.2421A>G (p.Pro807=) c.2415A>G (p.Pro805=) c.2370A>G (p.Pro790=) c.2361A>G (p.Pro787=) c.2337A>G (p.Pro779=) c.2331A>G (p.Pro777=) c.2304A>G (p.Pro768=) c.2298A>G (p.Pro766=) c.2292A>G (p.Pro764=) c.2241A>G (p.Pro747=) c.2160A>G (p.Pro720=) c.2308-291A>G (n.2308-291A>G) c.2082A>G (p.Pro694=) c.2208+1098A>G (n.2208+1098A>G) c.1302A>G (p.Pro434=) n.2578A>G | gnomAD v4 |
| 17 | g.39724758A>T | CA499670851 | ERBB2 | c.2340A>T (p.Pro780=) c.2250A>T (p.Pro750=) c.1512A>T (p.Pro504=) c.2295A>T (p.Pro765=) c.*2130A>T (n.*2130A>T) c.446A>T n.3474A>T n.2664A>T c.2478A>T (p.Pro826=) c.2433A>T (p.Pro811=) c.2388A>T (p.Pro796=) c.2457A>T (p.Pro819=) c.2442A>T (p.Pro814=) c.2421A>T (p.Pro807=) c.2415A>T (p.Pro805=) c.2370A>T (p.Pro790=) c.2361A>T (p.Pro787=) c.2337A>T (p.Pro779=) c.2331A>T (p.Pro777=) c.2304A>T (p.Pro768=) c.2298A>T (p.Pro766=) c.2292A>T (p.Pro764=) c.2241A>T (p.Pro747=) c.2160A>T (p.Pro720=) c.2308-291A>T (n.2308-291A>T) c.2082A>T (p.Pro694=) c.2208+1098A>T (n.2208+1098A>T) c.1302A>T (p.Pro434=) n.2578A>T | |
| 17 | g.39724760_39724761del | CA2580617810 | ERBB2 | c.2342_2343del (p.Tyr781CysfsTer?) c.2252_2253del (p.Tyr751CysfsTer?) c.1514_1515del (p.Tyr505CysfsTer?) c.2297_2298del (p.Tyr766CysfsTer?) c.*2132_*2133del (n.*2132_*2133del) c.448_449del n.3476_3477del n.2666_2667del c.2480_2481del (p.Tyr827CysfsTer?) c.2435_2436del (p.Tyr812CysfsTer?) c.2390_2391del (p.Tyr797CysfsTer?) c.2459_2460del (p.Tyr820CysfsTer?) c.2444_2445del (p.Tyr815CysfsTer?) c.2423_2424del (p.Tyr808CysfsTer?) c.2417_2418del (p.Tyr806CysfsTer?) c.2372_2373del (p.Tyr791CysfsTer?) c.2363_2364del (p.Tyr788CysfsTer?) c.2339_2340del (p.Tyr780CysfsTer?) c.2333_2334del (p.Tyr778CysfsTer?) c.2306_2307del (p.Tyr769CysfsTer?) c.2300_2301del (p.Tyr767CysfsTer?) c.2294_2295del (p.Tyr765CysfsTer?) c.2243_2244del (p.Tyr748CysfsTer?) c.2162_2163del (p.Tyr721CysfsTer?) c.2308-289_2308-288del (n.2308-289_2308-288del) c.2084_2085del (p.Tyr695CysfsTer?) c.2208+1100_2208+1101del (n.2208+1100_2208+1101del) c.1304_1305del (p.Tyr435CysfsTer?) n.2580_2581del | gnomAD v4 |
| 17 | g.39724759T>A | CA399302890 | ERBB2 | c.2341T>A (p.Tyr781Asn) c.2251T>A (p.Tyr751Asn) c.1513T>A (p.Tyr505Asn) c.2296T>A (p.Tyr766Asn) c.*2131T>A (n.*2131T>A) c.447T>A n.3475T>A n.2665T>A c.2479T>A (p.Tyr827Asn) c.2434T>A (p.Tyr812Asn) c.2389T>A (p.Tyr797Asn) c.2458T>A (p.Tyr820Asn) c.2443T>A (p.Tyr815Asn) c.2422T>A (p.Tyr808Asn) c.2416T>A (p.Tyr806Asn) c.2371T>A (p.Tyr791Asn) c.2362T>A (p.Tyr788Asn) c.2338T>A (p.Tyr780Asn) c.2332T>A (p.Tyr778Asn) c.2305T>A (p.Tyr769Asn) c.2299T>A (p.Tyr767Asn) c.2293T>A (p.Tyr765Asn) c.2242T>A (p.Tyr748Asn) c.2161T>A (p.Tyr721Asn) c.2308-290T>A (n.2308-290T>A) c.2083T>A (p.Tyr695Asn) c.2208+1099T>A (n.2208+1099T>A) c.1303T>A (p.Tyr435Asn) n.2579T>A | dbSNP gnomAD v4 |
| 17 | g.39724759T>C | CA399302892 | ERBB2 | c.2341T>C (p.Tyr781His) c.2251T>C (p.Tyr751His) c.1513T>C (p.Tyr505His) c.2296T>C (p.Tyr766His) c.*2131T>C (n.*2131T>C) c.447T>C n.3475T>C n.2665T>C c.2479T>C (p.Tyr827His) c.2434T>C (p.Tyr812His) c.2389T>C (p.Tyr797His) c.2458T>C (p.Tyr820His) c.2443T>C (p.Tyr815His) c.2422T>C (p.Tyr808His) c.2416T>C (p.Tyr806His) c.2371T>C (p.Tyr791His) c.2362T>C (p.Tyr788His) c.2338T>C (p.Tyr780His) c.2332T>C (p.Tyr778His) c.2305T>C (p.Tyr769His) c.2299T>C (p.Tyr767His) c.2293T>C (p.Tyr765His) c.2242T>C (p.Tyr748His) c.2161T>C (p.Tyr721His) c.2308-290T>C (n.2308-290T>C) c.2083T>C (p.Tyr695His) c.2208+1099T>C (n.2208+1099T>C) c.1303T>C (p.Tyr435His) n.2579T>C | dbSNP |
| 17 | g.39724759T>G | CA399302895 | ERBB2 | c.2341T>G (p.Tyr781Asp) c.2251T>G (p.Tyr751Asp) c.1513T>G (p.Tyr505Asp) c.2296T>G (p.Tyr766Asp) c.*2131T>G (n.*2131T>G) c.447T>G n.3475T>G n.2665T>G c.2479T>G (p.Tyr827Asp) c.2434T>G (p.Tyr812Asp) c.2389T>G (p.Tyr797Asp) c.2458T>G (p.Tyr820Asp) c.2443T>G (p.Tyr815Asp) c.2422T>G (p.Tyr808Asp) c.2416T>G (p.Tyr806Asp) c.2371T>G (p.Tyr791Asp) c.2362T>G (p.Tyr788Asp) c.2338T>G (p.Tyr780Asp) c.2332T>G (p.Tyr778Asp) c.2305T>G (p.Tyr769Asp) c.2299T>G (p.Tyr767Asp) c.2293T>G (p.Tyr765Asp) c.2242T>G (p.Tyr748Asp) c.2161T>G (p.Tyr721Asp) c.2308-290T>G (n.2308-290T>G) c.2083T>G (p.Tyr695Asp) c.2208+1099T>G (n.2208+1099T>G) c.1303T>G (p.Tyr435Asp) n.2579T>G | dbSNP |
| 17 | g.39724760A>C | CA399302899 | ERBB2 | c.2342A>C (p.Tyr781Ser) c.2252A>C (p.Tyr751Ser) c.1514A>C (p.Tyr505Ser) c.2297A>C (p.Tyr766Ser) c.*2132A>C (n.*2132A>C) c.448A>C n.3476A>C n.2666A>C c.2480A>C (p.Tyr827Ser) c.2435A>C (p.Tyr812Ser) c.2390A>C (p.Tyr797Ser) c.2459A>C (p.Tyr820Ser) c.2444A>C (p.Tyr815Ser) c.2423A>C (p.Tyr808Ser) c.2417A>C (p.Tyr806Ser) c.2372A>C (p.Tyr791Ser) c.2363A>C (p.Tyr788Ser) c.2339A>C (p.Tyr780Ser) c.2333A>C (p.Tyr778Ser) c.2306A>C (p.Tyr769Ser) c.2300A>C (p.Tyr767Ser) c.2294A>C (p.Tyr765Ser) c.2243A>C (p.Tyr748Ser) c.2162A>C (p.Tyr721Ser) c.2308-289A>C (n.2308-289A>C) c.2084A>C (p.Tyr695Ser) c.2208+1100A>C (n.2208+1100A>C) c.1304A>C (p.Tyr435Ser) n.2580A>C | |
| 17 | g.39724760A>G | CA399302901 | ERBB2 | c.2342A>G (p.Tyr781Cys) c.2252A>G (p.Tyr751Cys) c.1514A>G (p.Tyr505Cys) c.2297A>G (p.Tyr766Cys) c.*2132A>G (n.*2132A>G) c.448A>G n.3476A>G n.2666A>G c.2480A>G (p.Tyr827Cys) c.2435A>G (p.Tyr812Cys) c.2390A>G (p.Tyr797Cys) c.2459A>G (p.Tyr820Cys) c.2444A>G (p.Tyr815Cys) c.2423A>G (p.Tyr808Cys) c.2417A>G (p.Tyr806Cys) c.2372A>G (p.Tyr791Cys) c.2363A>G (p.Tyr788Cys) c.2339A>G (p.Tyr780Cys) c.2333A>G (p.Tyr778Cys) c.2306A>G (p.Tyr769Cys) c.2300A>G (p.Tyr767Cys) c.2294A>G (p.Tyr765Cys) c.2243A>G (p.Tyr748Cys) c.2162A>G (p.Tyr721Cys) c.2308-289A>G (n.2308-289A>G) c.2084A>G (p.Tyr695Cys) c.2208+1100A>G (n.2208+1100A>G) c.1304A>G (p.Tyr435Cys) n.2580A>G | dbSNP COSMIC |
| 17 | g.39724760A>T | CA399302896 | ERBB2 | c.2342A>T (p.Tyr781Phe) c.2252A>T (p.Tyr751Phe) c.1514A>T (p.Tyr505Phe) c.2297A>T (p.Tyr766Phe) c.*2132A>T (n.*2132A>T) c.448A>T n.3476A>T n.2666A>T c.2480A>T (p.Tyr827Phe) c.2435A>T (p.Tyr812Phe) c.2390A>T (p.Tyr797Phe) c.2459A>T (p.Tyr820Phe) c.2444A>T (p.Tyr815Phe) c.2423A>T (p.Tyr808Phe) c.2417A>T (p.Tyr806Phe) c.2372A>T (p.Tyr791Phe) c.2363A>T (p.Tyr788Phe) c.2339A>T (p.Tyr780Phe) c.2333A>T (p.Tyr778Phe) c.2306A>T (p.Tyr769Phe) c.2300A>T (p.Tyr767Phe) c.2294A>T (p.Tyr765Phe) c.2243A>T (p.Tyr748Phe) c.2162A>T (p.Tyr721Phe) c.2308-289A>T (n.2308-289A>T) c.2084A>T (p.Tyr695Phe) c.2208+1100A>T (n.2208+1100A>T) c.1304A>T (p.Tyr435Phe) n.2580A>T | |
| 17 | g.39724761T>A | CA399302904 | ERBB2 | c.2343T>A (p.Tyr781Ter) c.2253T>A (p.Tyr751Ter) c.1515T>A (p.Tyr505Ter) c.2298T>A (p.Tyr766Ter) c.*2133T>A (n.*2133T>A) c.449T>A n.3477T>A n.2667T>A c.2481T>A (p.Tyr827Ter) c.2436T>A (p.Tyr812Ter) c.2391T>A (p.Tyr797Ter) c.2460T>A (p.Tyr820Ter) c.2445T>A (p.Tyr815Ter) c.2424T>A (p.Tyr808Ter) c.2418T>A (p.Tyr806Ter) c.2373T>A (p.Tyr791Ter) c.2364T>A (p.Tyr788Ter) c.2340T>A (p.Tyr780Ter) c.2334T>A (p.Tyr778Ter) c.2307T>A (p.Tyr769Ter) c.2301T>A (p.Tyr767Ter) c.2295T>A (p.Tyr765Ter) c.2244T>A (p.Tyr748Ter) c.2163T>A (p.Tyr721Ter) c.2308-288T>A (n.2308-288T>A) c.2085T>A (p.Tyr695Ter) c.2208+1101T>A (n.2208+1101T>A) c.1305T>A (p.Tyr435Ter) n.2581T>A | dbSNP |
| 17 | g.39724761T>C | CA499670852 | ERBB2 | c.2343T>C (p.Tyr781=) c.2253T>C (p.Tyr751=) c.1515T>C (p.Tyr505=) c.2298T>C (p.Tyr766=) c.*2133T>C (n.*2133T>C) c.449T>C n.3477T>C n.2667T>C c.2481T>C (p.Tyr827=) c.2436T>C (p.Tyr812=) c.2391T>C (p.Tyr797=) c.2460T>C (p.Tyr820=) c.2445T>C (p.Tyr815=) c.2424T>C (p.Tyr808=) c.2418T>C (p.Tyr806=) c.2373T>C (p.Tyr791=) c.2364T>C (p.Tyr788=) c.2340T>C (p.Tyr780=) c.2334T>C (p.Tyr778=) c.2307T>C (p.Tyr769=) c.2301T>C (p.Tyr767=) c.2295T>C (p.Tyr765=) c.2244T>C (p.Tyr748=) c.2163T>C (p.Tyr721=) c.2308-288T>C (n.2308-288T>C) c.2085T>C (p.Tyr695=) c.2208+1101T>C (n.2208+1101T>C) c.1305T>C (p.Tyr435=) n.2581T>C | gnomAD v4 COSMIC |
| 17 | g.39724761T>G | CA399302906 | ERBB2 | c.2343T>G (p.Tyr781Ter) c.2253T>G (p.Tyr751Ter) c.1515T>G (p.Tyr505Ter) c.2298T>G (p.Tyr766Ter) c.*2133T>G (n.*2133T>G) c.449T>G n.3477T>G n.2667T>G c.2481T>G (p.Tyr827Ter) c.2436T>G (p.Tyr812Ter) c.2391T>G (p.Tyr797Ter) c.2460T>G (p.Tyr820Ter) c.2445T>G (p.Tyr815Ter) c.2424T>G (p.Tyr808Ter) c.2418T>G (p.Tyr806Ter) c.2373T>G (p.Tyr791Ter) c.2364T>G (p.Tyr788Ter) c.2340T>G (p.Tyr780Ter) c.2334T>G (p.Tyr778Ter) c.2307T>G (p.Tyr769Ter) c.2301T>G (p.Tyr767Ter) c.2295T>G (p.Tyr765Ter) c.2244T>G (p.Tyr748Ter) c.2163T>G (p.Tyr721Ter) c.2308-288T>G (n.2308-288T>G) c.2085T>G (p.Tyr695Ter) c.2208+1101T>G (n.2208+1101T>G) c.1305T>G (p.Tyr435Ter) n.2581T>G | dbSNP |
| 17 | g.39724762G>A | CA399302908 | ERBB2 | c.2344G>A (p.Val782Ile) c.2254G>A (p.Val752Ile) c.1516G>A (p.Val506Ile) c.2299G>A (p.Val767Ile) c.*2134G>A (n.*2134G>A) c.450G>A n.3478G>A n.2668G>A c.2482G>A (p.Val828Ile) c.2437G>A (p.Val813Ile) c.2392G>A (p.Val798Ile) c.2461G>A (p.Val821Ile) c.2446G>A (p.Val816Ile) c.2425G>A (p.Val809Ile) c.2419G>A (p.Val807Ile) c.2374G>A (p.Val792Ile) c.2365G>A (p.Val789Ile) c.2341G>A (p.Val781Ile) c.2335G>A (p.Val779Ile) c.2308G>A (p.Val770Ile) c.2302G>A (p.Val768Ile) c.2296G>A (p.Val766Ile) c.2245G>A (p.Val749Ile) c.2164G>A (p.Val722Ile) c.2308-287G>A (n.2308-287G>A) c.2086G>A (p.Val696Ile) c.2208+1102G>A (n.2208+1102G>A) c.1306G>A (p.Val436Ile) n.2582G>A | dbSNP |
| 17 | g.39724762G>C | CA399302911 | ERBB2 | c.2344G>C (p.Val782Leu) c.2254G>C (p.Val752Leu) c.1516G>C (p.Val506Leu) c.2299G>C (p.Val767Leu) c.*2134G>C (n.*2134G>C) c.450G>C n.3478G>C n.2668G>C c.2482G>C (p.Val828Leu) c.2437G>C (p.Val813Leu) c.2392G>C (p.Val798Leu) c.2461G>C (p.Val821Leu) c.2446G>C (p.Val816Leu) c.2425G>C (p.Val809Leu) c.2419G>C (p.Val807Leu) c.2374G>C (p.Val792Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) c.2335G>C (p.Val779Leu) c.2308G>C (p.Val770Leu) c.2302G>C (p.Val768Leu) c.2296G>C (p.Val766Leu) c.2245G>C (p.Val749Leu) c.2164G>C (p.Val722Leu) c.2308-287G>C (n.2308-287G>C) c.2086G>C (p.Val696Leu) c.2208+1102G>C (n.2208+1102G>C) c.1306G>C (p.Val436Leu) n.2582G>C | dbSNP |
| 17 | g.39724762G= | CA2259227996 | ERBB2 | c.2344G= (p.Val782=) c.2254G= (p.Val752=) c.1516G= (p.Val506=) c.2299G= (p.Val767=) c.*2134G= (n.*2134G=) c.450G= n.3478G= n.2668G= c.2482G= (p.Val828=) c.2437G= (p.Val813=) c.2392G= (p.Val798=) c.2461G= (p.Val821=) c.2446G= (p.Val816=) c.2425G= (p.Val809=) c.2419G= (p.Val807=) c.2374G= (p.Val792=) c.2365G= (p.Val789=) c.2341G= (p.Val781=) c.2335G= (p.Val779=) c.2308G= (p.Val770=) c.2302G= (p.Val768=) c.2296G= (p.Val766=) c.2245G= (p.Val749=) c.2164G= (p.Val722=) c.2308-287G= (n.2308-287G=) c.2086G= (p.Val696=) c.2208+1102G= (n.2208+1102G=) c.1306G= (p.Val436=) n.2582G= | |
| 17 | g.39724762G>T | CA399302914 | ERBB2 | c.2344G>T (p.Val782Phe) c.2254G>T (p.Val752Phe) c.1516G>T (p.Val506Phe) c.2299G>T (p.Val767Phe) c.*2134G>T (n.*2134G>T) c.450G>T n.3478G>T n.2668G>T c.2482G>T (p.Val828Phe) c.2437G>T (p.Val813Phe) c.2392G>T (p.Val798Phe) c.2461G>T (p.Val821Phe) c.2446G>T (p.Val816Phe) c.2425G>T (p.Val809Phe) c.2419G>T (p.Val807Phe) c.2374G>T (p.Val792Phe) c.2365G>T (p.Val789Phe) c.2341G>T (p.Val781Phe) c.2335G>T (p.Val779Phe) c.2308G>T (p.Val770Phe) c.2302G>T (p.Val768Phe) c.2296G>T (p.Val766Phe) c.2245G>T (p.Val749Phe) c.2164G>T (p.Val722Phe) c.2308-287G>T (n.2308-287G>T) c.2086G>T (p.Val696Phe) c.2208+1102G>T (n.2208+1102G>T) c.1306G>T (p.Val436Phe) n.2582G>T | dbSNP |
| 17 | g.39724763T>A | CA399302917 | ERBB2 | c.2345T>A (p.Val782Asp) c.2255T>A (p.Val752Asp) c.1517T>A (p.Val506Asp) c.2300T>A (p.Val767Asp) c.*2135T>A (n.*2135T>A) c.451T>A n.3479T>A n.2669T>A c.2483T>A (p.Val828Asp) c.2438T>A (p.Val813Asp) c.2393T>A (p.Val798Asp) c.2462T>A (p.Val821Asp) c.2447T>A (p.Val816Asp) c.2426T>A (p.Val809Asp) c.2420T>A (p.Val807Asp) c.2375T>A (p.Val792Asp) c.2366T>A (p.Val789Asp) c.2342T>A (p.Val781Asp) c.2336T>A (p.Val779Asp) c.2309T>A (p.Val770Asp) c.2303T>A (p.Val768Asp) c.2297T>A (p.Val766Asp) c.2246T>A (p.Val749Asp) c.2165T>A (p.Val722Asp) c.2308-286T>A (n.2308-286T>A) c.2087T>A (p.Val696Asp) c.2208+1103T>A (n.2208+1103T>A) c.1307T>A (p.Val436Asp) n.2583T>A | dbSNP |
| 17 | g.39724763T>C | CA399302918 | ERBB2 | c.2345T>C (p.Val782Ala) c.2255T>C (p.Val752Ala) c.1517T>C (p.Val506Ala) c.2300T>C (p.Val767Ala) c.*2135T>C (n.*2135T>C) c.451T>C n.3479T>C n.2669T>C c.2483T>C (p.Val828Ala) c.2438T>C (p.Val813Ala) c.2393T>C (p.Val798Ala) c.2462T>C (p.Val821Ala) c.2447T>C (p.Val816Ala) c.2426T>C (p.Val809Ala) c.2420T>C (p.Val807Ala) c.2375T>C (p.Val792Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) c.2336T>C (p.Val779Ala) c.2309T>C (p.Val770Ala) c.2303T>C (p.Val768Ala) c.2297T>C (p.Val766Ala) c.2246T>C (p.Val749Ala) c.2165T>C (p.Val722Ala) c.2308-286T>C (n.2308-286T>C) c.2087T>C (p.Val696Ala) c.2208+1103T>C (n.2208+1103T>C) c.1307T>C (p.Val436Ala) n.2583T>C | dbSNP |
| 17 | g.39724763T>G | CA399302919 | ERBB2 | c.2345T>G (p.Val782Gly) c.2255T>G (p.Val752Gly) c.1517T>G (p.Val506Gly) c.2300T>G (p.Val767Gly) c.*2135T>G (n.*2135T>G) c.451T>G n.3479T>G n.2669T>G c.2483T>G (p.Val828Gly) c.2438T>G (p.Val813Gly) c.2393T>G (p.Val798Gly) c.2462T>G (p.Val821Gly) c.2447T>G (p.Val816Gly) c.2426T>G (p.Val809Gly) c.2420T>G (p.Val807Gly) c.2375T>G (p.Val792Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) c.2336T>G (p.Val779Gly) c.2309T>G (p.Val770Gly) c.2303T>G (p.Val768Gly) c.2297T>G (p.Val766Gly) c.2246T>G (p.Val749Gly) c.2165T>G (p.Val722Gly) c.2308-286T>G (n.2308-286T>G) c.2087T>G (p.Val696Gly) c.2208+1103T>G (n.2208+1103T>G) c.1307T>G (p.Val436Gly) n.2583T>G | dbSNP |
| 17 | g.39724764C>A | CA499670853 | ERBB2 | c.2346C>A (p.Val782=) c.2256C>A (p.Val752=) c.1518C>A (p.Val506=) c.2301C>A (p.Val767=) c.*2136C>A (n.*2136C>A) c.452C>A n.3480C>A n.2670C>A c.2484C>A (p.Val828=) c.2439C>A (p.Val813=) c.2394C>A (p.Val798=) c.2463C>A (p.Val821=) c.2448C>A (p.Val816=) c.2427C>A (p.Val809=) c.2421C>A (p.Val807=) c.2376C>A (p.Val792=) c.2367C>A (p.Val789=) c.2343C>A (p.Val781=) c.2337C>A (p.Val779=) c.2310C>A (p.Val770=) c.2304C>A (p.Val768=) c.2298C>A (p.Val766=) c.2247C>A (p.Val749=) c.2166C>A (p.Val722=) c.2308-285C>A (n.2308-285C>A) c.2088C>A (p.Val696=) c.2208+1104C>A (n.2208+1104C>A) c.1308C>A (p.Val436=) n.2584C>A | dbSNP |
| 17 | g.39724764C= | CA2259227997 | ERBB2 | c.2346C= (p.Val782=) c.2256C= (p.Val752=) c.1518C= (p.Val506=) c.2301C= (p.Val767=) c.*2136C= (n.*2136C=) c.452C= n.3480C= n.2670C= c.2484C= (p.Val828=) c.2439C= (p.Val813=) c.2394C= (p.Val798=) c.2463C= (p.Val821=) c.2448C= (p.Val816=) c.2427C= (p.Val809=) c.2421C= (p.Val807=) c.2376C= (p.Val792=) c.2367C= (p.Val789=) c.2343C= (p.Val781=) c.2337C= (p.Val779=) c.2310C= (p.Val770=) c.2304C= (p.Val768=) c.2298C= (p.Val766=) c.2247C= (p.Val749=) c.2166C= (p.Val722=) c.2308-285C= (n.2308-285C=) c.2088C= (p.Val696=) c.2208+1104C= (n.2208+1104C=) c.1308C= (p.Val436=) n.2584C= | |
| 17 | g.39724764C>G | CA499670854 | ERBB2 | c.2346C>G (p.Val782=) c.2256C>G (p.Val752=) c.1518C>G (p.Val506=) c.2301C>G (p.Val767=) c.*2136C>G (n.*2136C>G) c.452C>G n.3480C>G n.2670C>G c.2484C>G (p.Val828=) c.2439C>G (p.Val813=) c.2394C>G (p.Val798=) c.2463C>G (p.Val821=) c.2448C>G (p.Val816=) c.2427C>G (p.Val809=) c.2421C>G (p.Val807=) c.2376C>G (p.Val792=) c.2367C>G (p.Val789=) c.2343C>G (p.Val781=) c.2337C>G (p.Val779=) c.2310C>G (p.Val770=) c.2304C>G (p.Val768=) c.2298C>G (p.Val766=) c.2247C>G (p.Val749=) c.2166C>G (p.Val722=) c.2308-285C>G (n.2308-285C>G) c.2088C>G (p.Val696=) c.2208+1104C>G (n.2208+1104C>G) c.1308C>G (p.Val436=) n.2584C>G | dbSNP gnomAD v4 |
| 17 | g.39724764C>T | CA499670855 | ERBB2 | c.2346C>T (p.Val782=) c.2256C>T (p.Val752=) c.1518C>T (p.Val506=) c.2301C>T (p.Val767=) c.*2136C>T (n.*2136C>T) c.452C>T n.3480C>T n.2670C>T c.2484C>T (p.Val828=) c.2439C>T (p.Val813=) c.2394C>T (p.Val798=) c.2463C>T (p.Val821=) c.2448C>T (p.Val816=) c.2427C>T (p.Val809=) c.2421C>T (p.Val807=) c.2376C>T (p.Val792=) c.2367C>T (p.Val789=) c.2343C>T (p.Val781=) c.2337C>T (p.Val779=) c.2310C>T (p.Val770=) c.2304C>T (p.Val768=) c.2298C>T (p.Val766=) c.2247C>T (p.Val749=) c.2166C>T (p.Val722=) c.2308-285C>T (n.2308-285C>T) c.2088C>T (p.Val696=) c.2208+1104C>T (n.2208+1104C>T) c.1308C>T (p.Val436=) n.2584C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.39724765T>A | CA399302920 | ERBB2 | c.2347T>A (p.Ser783Thr) c.2257T>A (p.Ser753Thr) c.1519T>A (p.Ser507Thr) c.2302T>A (p.Ser768Thr) c.*2137T>A (n.*2137T>A) c.453T>A n.3481T>A n.2671T>A c.2485T>A (p.Ser829Thr) c.2440T>A (p.Ser814Thr) c.2395T>A (p.Ser799Thr) c.2464T>A (p.Ser822Thr) c.2449T>A (p.Ser817Thr) c.2428T>A (p.Ser810Thr) c.2422T>A (p.Ser808Thr) c.2377T>A (p.Ser793Thr) c.2368T>A (p.Ser790Thr) c.2344T>A (p.Ser782Thr) c.2338T>A (p.Ser780Thr) c.2311T>A (p.Ser771Thr) c.2305T>A (p.Ser769Thr) c.2299T>A (p.Ser767Thr) c.2248T>A (p.Ser750Thr) c.2167T>A (p.Ser723Thr) c.2308-284T>A (n.2308-284T>A) c.2089T>A (p.Ser697Thr) c.2208+1105T>A (n.2208+1105T>A) c.1309T>A (p.Ser437Thr) n.2585T>A | |
| 17 | g.39724765T>C | CA399302922 | ERBB2 | c.2347T>C (p.Ser783Pro) c.2257T>C (p.Ser753Pro) c.1519T>C (p.Ser507Pro) c.2302T>C (p.Ser768Pro) c.*2137T>C (n.*2137T>C) c.453T>C n.3481T>C n.2671T>C c.2485T>C (p.Ser829Pro) c.2440T>C (p.Ser814Pro) c.2395T>C (p.Ser799Pro) c.2464T>C (p.Ser822Pro) c.2449T>C (p.Ser817Pro) c.2428T>C (p.Ser810Pro) c.2422T>C (p.Ser808Pro) c.2377T>C (p.Ser793Pro) c.2368T>C (p.Ser790Pro) c.2344T>C (p.Ser782Pro) c.2338T>C (p.Ser780Pro) c.2311T>C (p.Ser771Pro) c.2305T>C (p.Ser769Pro) c.2299T>C (p.Ser767Pro) c.2248T>C (p.Ser750Pro) c.2167T>C (p.Ser723Pro) c.2308-284T>C (n.2308-284T>C) c.2089T>C (p.Ser697Pro) c.2208+1105T>C (n.2208+1105T>C) c.1309T>C (p.Ser437Pro) n.2585T>C | |
| 17 | g.39724765T>G | CA399302925 | ERBB2 | c.2347T>G (p.Ser783Ala) c.2257T>G (p.Ser753Ala) c.1519T>G (p.Ser507Ala) c.2302T>G (p.Ser768Ala) c.*2137T>G (n.*2137T>G) c.453T>G n.3481T>G n.2671T>G c.2485T>G (p.Ser829Ala) c.2440T>G (p.Ser814Ala) c.2395T>G (p.Ser799Ala) c.2464T>G (p.Ser822Ala) c.2449T>G (p.Ser817Ala) c.2428T>G (p.Ser810Ala) c.2422T>G (p.Ser808Ala) c.2377T>G (p.Ser793Ala) c.2368T>G (p.Ser790Ala) c.2344T>G (p.Ser782Ala) c.2338T>G (p.Ser780Ala) c.2311T>G (p.Ser771Ala) c.2305T>G (p.Ser769Ala) c.2299T>G (p.Ser767Ala) c.2248T>G (p.Ser750Ala) c.2167T>G (p.Ser723Ala) c.2308-284T>G (n.2308-284T>G) c.2089T>G (p.Ser697Ala) c.2208+1105T>G (n.2208+1105T>G) c.1309T>G (p.Ser437Ala) n.2585T>G | |
| 17 | g.39724766C>A | CA399302928 | ERBB2 | c.2348C>A (p.Ser783Tyr) c.2258C>A (p.Ser753Tyr) c.1520C>A (p.Ser507Tyr) c.2303C>A (p.Ser768Tyr) c.*2138C>A (n.*2138C>A) c.454C>A n.3482C>A n.2672C>A c.2486C>A (p.Ser829Tyr) c.2441C>A (p.Ser814Tyr) c.2396C>A (p.Ser799Tyr) c.2465C>A (p.Ser822Tyr) c.2450C>A (p.Ser817Tyr) c.2429C>A (p.Ser810Tyr) c.2423C>A (p.Ser808Tyr) c.2378C>A (p.Ser793Tyr) c.2369C>A (p.Ser790Tyr) c.2345C>A (p.Ser782Tyr) c.2339C>A (p.Ser780Tyr) c.2312C>A (p.Ser771Tyr) c.2306C>A (p.Ser769Tyr) c.2300C>A (p.Ser767Tyr) c.2249C>A (p.Ser750Tyr) c.2168C>A (p.Ser723Tyr) c.2308-283C>A (n.2308-283C>A) c.2090C>A (p.Ser697Tyr) c.2208+1106C>A (n.2208+1106C>A) c.1310C>A (p.Ser437Tyr) n.2586C>A | dbSNP |
| 17 | g.39724766C>G | CA399302930 | ERBB2 | c.2348C>G (p.Ser783Cys) c.2258C>G (p.Ser753Cys) c.1520C>G (p.Ser507Cys) c.2303C>G (p.Ser768Cys) c.*2138C>G (n.*2138C>G) c.454C>G n.3482C>G n.2672C>G c.2486C>G (p.Ser829Cys) c.2441C>G (p.Ser814Cys) c.2396C>G (p.Ser799Cys) c.2465C>G (p.Ser822Cys) c.2450C>G (p.Ser817Cys) c.2429C>G (p.Ser810Cys) c.2423C>G (p.Ser808Cys) c.2378C>G (p.Ser793Cys) c.2369C>G (p.Ser790Cys) c.2345C>G (p.Ser782Cys) c.2339C>G (p.Ser780Cys) c.2312C>G (p.Ser771Cys) c.2306C>G (p.Ser769Cys) c.2300C>G (p.Ser767Cys) c.2249C>G (p.Ser750Cys) c.2168C>G (p.Ser723Cys) c.2308-283C>G (n.2308-283C>G) c.2090C>G (p.Ser697Cys) c.2208+1106C>G (n.2208+1106C>G) c.1310C>G (p.Ser437Cys) n.2586C>G | dbSNP |
| 17 | g.39724766C>T | CA399302937 | ERBB2 | c.2348C>T (p.Ser783Phe) c.2258C>T (p.Ser753Phe) c.1520C>T (p.Ser507Phe) c.2303C>T (p.Ser768Phe) c.*2138C>T (n.*2138C>T) c.454C>T n.3482C>T n.2672C>T c.2486C>T (p.Ser829Phe) c.2441C>T (p.Ser814Phe) c.2396C>T (p.Ser799Phe) c.2465C>T (p.Ser822Phe) c.2450C>T (p.Ser817Phe) c.2429C>T (p.Ser810Phe) c.2423C>T (p.Ser808Phe) c.2378C>T (p.Ser793Phe) c.2369C>T (p.Ser790Phe) c.2345C>T (p.Ser782Phe) c.2339C>T (p.Ser780Phe) c.2312C>T (p.Ser771Phe) c.2306C>T (p.Ser769Phe) c.2300C>T (p.Ser767Phe) c.2249C>T (p.Ser750Phe) c.2168C>T (p.Ser723Phe) c.2308-283C>T (n.2308-283C>T) c.2090C>T (p.Ser697Phe) c.2208+1106C>T (n.2208+1106C>T) c.1310C>T (p.Ser437Phe) n.2586C>T | dbSNP |
| 17 | g.39724767C>A | CA499670856 | ERBB2 | c.2349C>A (p.Ser783=) c.2259C>A (p.Ser753=) c.1521C>A (p.Ser507=) c.2304C>A (p.Ser768=) c.*2139C>A (n.*2139C>A) c.455C>A n.3483C>A n.2673C>A c.2487C>A (p.Ser829=) c.2442C>A (p.Ser814=) c.2397C>A (p.Ser799=) c.2466C>A (p.Ser822=) c.2451C>A (p.Ser817=) c.2430C>A (p.Ser810=) c.2424C>A (p.Ser808=) c.2379C>A (p.Ser793=) c.2370C>A (p.Ser790=) c.2346C>A (p.Ser782=) c.2340C>A (p.Ser780=) c.2313C>A (p.Ser771=) c.2307C>A (p.Ser769=) c.2301C>A (p.Ser767=) c.2250C>A (p.Ser750=) c.2169C>A (p.Ser723=) c.2308-282C>A (n.2308-282C>A) c.2091C>A (p.Ser697=) c.2208+1107C>A (n.2208+1107C>A) c.1311C>A (p.Ser437=) n.2587C>A | dbSNP |
| 17 | g.39724767C= | CA2259227998 | ERBB2 | c.2349C= (p.Ser783=) c.2259C= (p.Ser753=) c.1521C= (p.Ser507=) c.2304C= (p.Ser768=) c.*2139C= (n.*2139C=) c.455C= n.3483C= n.2673C= c.2487C= (p.Ser829=) c.2442C= (p.Ser814=) c.2397C= (p.Ser799=) c.2466C= (p.Ser822=) c.2451C= (p.Ser817=) c.2430C= (p.Ser810=) c.2424C= (p.Ser808=) c.2379C= (p.Ser793=) c.2370C= (p.Ser790=) c.2346C= (p.Ser782=) c.2340C= (p.Ser780=) c.2313C= (p.Ser771=) c.2307C= (p.Ser769=) c.2301C= (p.Ser767=) c.2250C= (p.Ser750=) c.2169C= (p.Ser723=) c.2308-282C= (n.2308-282C=) c.2091C= (p.Ser697=) c.2208+1107C= (n.2208+1107C=) c.1311C= (p.Ser437=) n.2587C= | |
| 17 | g.39724767C>G | CA499670857 | ERBB2 | c.2349C>G (p.Ser783=) c.2259C>G (p.Ser753=) c.1521C>G (p.Ser507=) c.2304C>G (p.Ser768=) c.*2139C>G (n.*2139C>G) c.455C>G n.3483C>G n.2673C>G c.2487C>G (p.Ser829=) c.2442C>G (p.Ser814=) c.2397C>G (p.Ser799=) c.2466C>G (p.Ser822=) c.2451C>G (p.Ser817=) c.2430C>G (p.Ser810=) c.2424C>G (p.Ser808=) c.2379C>G (p.Ser793=) c.2370C>G (p.Ser790=) c.2346C>G (p.Ser782=) c.2340C>G (p.Ser780=) c.2313C>G (p.Ser771=) c.2307C>G (p.Ser769=) c.2301C>G (p.Ser767=) c.2250C>G (p.Ser750=) c.2169C>G (p.Ser723=) c.2308-282C>G (n.2308-282C>G) c.2091C>G (p.Ser697=) c.2208+1107C>G (n.2208+1107C>G) c.1311C>G (p.Ser437=) n.2587C>G | dbSNP |
| 17 | g.39724767C>T | CA8534285 | ERBB2 | c.2349C>T (p.Ser783=) c.2259C>T (p.Ser753=) c.1521C>T (p.Ser507=) c.2304C>T (p.Ser768=) c.*2139C>T (n.*2139C>T) c.455C>T n.3483C>T n.2673C>T c.2487C>T (p.Ser829=) c.2442C>T (p.Ser814=) c.2397C>T (p.Ser799=) c.2466C>T (p.Ser822=) c.2451C>T (p.Ser817=) c.2430C>T (p.Ser810=) c.2424C>T (p.Ser808=) c.2379C>T (p.Ser793=) c.2370C>T (p.Ser790=) c.2346C>T (p.Ser782=) c.2340C>T (p.Ser780=) c.2313C>T (p.Ser771=) c.2307C>T (p.Ser769=) c.2301C>T (p.Ser767=) c.2250C>T (p.Ser750=) c.2169C>T (p.Ser723=) c.2308-282C>T (n.2308-282C>T) c.2091C>T (p.Ser697=) c.2208+1107C>T (n.2208+1107C>T) c.1311C>T (p.Ser437=) n.2587C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39724768C>A | CA399302945 | ERBB2 | c.2350C>A (p.Arg784Ser) c.2260C>A (p.Arg754Ser) c.1522C>A (p.Arg508Ser) c.2305C>A (p.Arg769Ser) c.*2140C>A (n.*2140C>A) c.456C>A n.3484C>A n.2674C>A c.2488C>A (p.Arg830Ser) c.2443C>A (p.Arg815Ser) c.2398C>A (p.Arg800Ser) c.2467C>A (p.Arg823Ser) c.2452C>A (p.Arg818Ser) c.2431C>A (p.Arg811Ser) c.2425C>A (p.Arg809Ser) c.2380C>A (p.Arg794Ser) c.2371C>A (p.Arg791Ser) c.2347C>A (p.Arg783Ser) c.2341C>A (p.Arg781Ser) c.2314C>A (p.Arg772Ser) c.2308C>A (p.Arg770Ser) c.2302C>A (p.Arg768Ser) c.2251C>A (p.Arg751Ser) c.2170C>A (p.Arg724Ser) c.2308-281C>A (n.2308-281C>A) c.2092C>A (p.Arg698Ser) c.2208+1108C>A (n.2208+1108C>A) c.1312C>A (p.Arg438Ser) n.2588C>A | dbSNP COSMIC |
| 17 | g.39724768C= | CA2259227999 | ERBB2 | c.2350C= (p.Arg784=) c.2260C= (p.Arg754=) c.1522C= (p.Arg508=) c.2305C= (p.Arg769=) c.*2140C= (n.*2140C=) c.456C= n.3484C= n.2674C= c.2488C= (p.Arg830=) c.2443C= (p.Arg815=) c.2398C= (p.Arg800=) c.2467C= (p.Arg823=) c.2452C= (p.Arg818=) c.2431C= (p.Arg811=) c.2425C= (p.Arg809=) c.2380C= (p.Arg794=) c.2371C= (p.Arg791=) c.2347C= (p.Arg783=) c.2341C= (p.Arg781=) c.2314C= (p.Arg772=) c.2308C= (p.Arg770=) c.2302C= (p.Arg768=) c.2251C= (p.Arg751=) c.2170C= (p.Arg724=) c.2308-281C= (n.2308-281C=) c.2092C= (p.Arg698=) c.2208+1108C= (n.2208+1108C=) c.1312C= (p.Arg438=) n.2588C= |