Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.39724761T>A | CA399302904 | ERBB2 | c.2343T>A (p.Tyr781Ter) c.2253T>A (p.Tyr751Ter) c.1515T>A (p.Tyr505Ter) c.2298T>A (p.Tyr766Ter) c.*2133T>A (n.*2133T>A) c.449T>A n.3477T>A n.2667T>A c.2481T>A (p.Tyr827Ter) c.2436T>A (p.Tyr812Ter) c.2391T>A (p.Tyr797Ter) c.2460T>A (p.Tyr820Ter) c.2445T>A (p.Tyr815Ter) c.2424T>A (p.Tyr808Ter) c.2418T>A (p.Tyr806Ter) c.2373T>A (p.Tyr791Ter) c.2364T>A (p.Tyr788Ter) c.2340T>A (p.Tyr780Ter) c.2334T>A (p.Tyr778Ter) c.2307T>A (p.Tyr769Ter) c.2301T>A (p.Tyr767Ter) c.2295T>A (p.Tyr765Ter) c.2244T>A (p.Tyr748Ter) c.2163T>A (p.Tyr721Ter) c.2308-288T>A (n.2308-288T>A) c.2085T>A (p.Tyr695Ter) c.2208+1101T>A (n.2208+1101T>A) c.1305T>A (p.Tyr435Ter) n.2581T>A | dbSNP |
17 | g.39724761T>C | CA499670852 | ERBB2 | c.2343T>C (p.Tyr781=) c.2253T>C (p.Tyr751=) c.1515T>C (p.Tyr505=) c.2298T>C (p.Tyr766=) c.*2133T>C (n.*2133T>C) c.449T>C n.3477T>C n.2667T>C c.2481T>C (p.Tyr827=) c.2436T>C (p.Tyr812=) c.2391T>C (p.Tyr797=) c.2460T>C (p.Tyr820=) c.2445T>C (p.Tyr815=) c.2424T>C (p.Tyr808=) c.2418T>C (p.Tyr806=) c.2373T>C (p.Tyr791=) c.2364T>C (p.Tyr788=) c.2340T>C (p.Tyr780=) c.2334T>C (p.Tyr778=) c.2307T>C (p.Tyr769=) c.2301T>C (p.Tyr767=) c.2295T>C (p.Tyr765=) c.2244T>C (p.Tyr748=) c.2163T>C (p.Tyr721=) c.2308-288T>C (n.2308-288T>C) c.2085T>C (p.Tyr695=) c.2208+1101T>C (n.2208+1101T>C) c.1305T>C (p.Tyr435=) n.2581T>C | gnomAD v4 COSMIC |
17 | g.39724761T>G | CA399302906 | ERBB2 | c.2343T>G (p.Tyr781Ter) c.2253T>G (p.Tyr751Ter) c.1515T>G (p.Tyr505Ter) c.2298T>G (p.Tyr766Ter) c.*2133T>G (n.*2133T>G) c.449T>G n.3477T>G n.2667T>G c.2481T>G (p.Tyr827Ter) c.2436T>G (p.Tyr812Ter) c.2391T>G (p.Tyr797Ter) c.2460T>G (p.Tyr820Ter) c.2445T>G (p.Tyr815Ter) c.2424T>G (p.Tyr808Ter) c.2418T>G (p.Tyr806Ter) c.2373T>G (p.Tyr791Ter) c.2364T>G (p.Tyr788Ter) c.2340T>G (p.Tyr780Ter) c.2334T>G (p.Tyr778Ter) c.2307T>G (p.Tyr769Ter) c.2301T>G (p.Tyr767Ter) c.2295T>G (p.Tyr765Ter) c.2244T>G (p.Tyr748Ter) c.2163T>G (p.Tyr721Ter) c.2308-288T>G (n.2308-288T>G) c.2085T>G (p.Tyr695Ter) c.2208+1101T>G (n.2208+1101T>G) c.1305T>G (p.Tyr435Ter) n.2581T>G | dbSNP |
17 | g.39724762G>A | CA399302908 | ERBB2 | c.2344G>A (p.Val782Ile) c.2254G>A (p.Val752Ile) c.1516G>A (p.Val506Ile) c.2299G>A (p.Val767Ile) c.*2134G>A (n.*2134G>A) c.450G>A n.3478G>A n.2668G>A c.2482G>A (p.Val828Ile) c.2437G>A (p.Val813Ile) c.2392G>A (p.Val798Ile) c.2461G>A (p.Val821Ile) c.2446G>A (p.Val816Ile) c.2425G>A (p.Val809Ile) c.2419G>A (p.Val807Ile) c.2374G>A (p.Val792Ile) c.2365G>A (p.Val789Ile) c.2341G>A (p.Val781Ile) c.2335G>A (p.Val779Ile) c.2308G>A (p.Val770Ile) c.2302G>A (p.Val768Ile) c.2296G>A (p.Val766Ile) c.2245G>A (p.Val749Ile) c.2164G>A (p.Val722Ile) c.2308-287G>A (n.2308-287G>A) c.2086G>A (p.Val696Ile) c.2208+1102G>A (n.2208+1102G>A) c.1306G>A (p.Val436Ile) n.2582G>A | dbSNP |
17 | g.39724762G>C | CA399302911 | ERBB2 | c.2344G>C (p.Val782Leu) c.2254G>C (p.Val752Leu) c.1516G>C (p.Val506Leu) c.2299G>C (p.Val767Leu) c.*2134G>C (n.*2134G>C) c.450G>C n.3478G>C n.2668G>C c.2482G>C (p.Val828Leu) c.2437G>C (p.Val813Leu) c.2392G>C (p.Val798Leu) c.2461G>C (p.Val821Leu) c.2446G>C (p.Val816Leu) c.2425G>C (p.Val809Leu) c.2419G>C (p.Val807Leu) c.2374G>C (p.Val792Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) c.2335G>C (p.Val779Leu) c.2308G>C (p.Val770Leu) c.2302G>C (p.Val768Leu) c.2296G>C (p.Val766Leu) c.2245G>C (p.Val749Leu) c.2164G>C (p.Val722Leu) c.2308-287G>C (n.2308-287G>C) c.2086G>C (p.Val696Leu) c.2208+1102G>C (n.2208+1102G>C) c.1306G>C (p.Val436Leu) n.2582G>C | dbSNP |
17 | g.39724762G= | CA2259227996 | ERBB2 | c.2344G= (p.Val782=) c.2254G= (p.Val752=) c.1516G= (p.Val506=) c.2299G= (p.Val767=) c.*2134G= (n.*2134G=) c.450G= n.3478G= n.2668G= c.2482G= (p.Val828=) c.2437G= (p.Val813=) c.2392G= (p.Val798=) c.2461G= (p.Val821=) c.2446G= (p.Val816=) c.2425G= (p.Val809=) c.2419G= (p.Val807=) c.2374G= (p.Val792=) c.2365G= (p.Val789=) c.2341G= (p.Val781=) c.2335G= (p.Val779=) c.2308G= (p.Val770=) c.2302G= (p.Val768=) c.2296G= (p.Val766=) c.2245G= (p.Val749=) c.2164G= (p.Val722=) c.2308-287G= (n.2308-287G=) c.2086G= (p.Val696=) c.2208+1102G= (n.2208+1102G=) c.1306G= (p.Val436=) n.2582G= | |
17 | g.39724762G>T | CA399302914 | ERBB2 | c.2344G>T (p.Val782Phe) c.2254G>T (p.Val752Phe) c.1516G>T (p.Val506Phe) c.2299G>T (p.Val767Phe) c.*2134G>T (n.*2134G>T) c.450G>T n.3478G>T n.2668G>T c.2482G>T (p.Val828Phe) c.2437G>T (p.Val813Phe) c.2392G>T (p.Val798Phe) c.2461G>T (p.Val821Phe) c.2446G>T (p.Val816Phe) c.2425G>T (p.Val809Phe) c.2419G>T (p.Val807Phe) c.2374G>T (p.Val792Phe) c.2365G>T (p.Val789Phe) c.2341G>T (p.Val781Phe) c.2335G>T (p.Val779Phe) c.2308G>T (p.Val770Phe) c.2302G>T (p.Val768Phe) c.2296G>T (p.Val766Phe) c.2245G>T (p.Val749Phe) c.2164G>T (p.Val722Phe) c.2308-287G>T (n.2308-287G>T) c.2086G>T (p.Val696Phe) c.2208+1102G>T (n.2208+1102G>T) c.1306G>T (p.Val436Phe) n.2582G>T | dbSNP |
17 | g.39724763T>A | CA399302917 | ERBB2 | c.2345T>A (p.Val782Asp) c.2255T>A (p.Val752Asp) c.1517T>A (p.Val506Asp) c.2300T>A (p.Val767Asp) c.*2135T>A (n.*2135T>A) c.451T>A n.3479T>A n.2669T>A c.2483T>A (p.Val828Asp) c.2438T>A (p.Val813Asp) c.2393T>A (p.Val798Asp) c.2462T>A (p.Val821Asp) c.2447T>A (p.Val816Asp) c.2426T>A (p.Val809Asp) c.2420T>A (p.Val807Asp) c.2375T>A (p.Val792Asp) c.2366T>A (p.Val789Asp) c.2342T>A (p.Val781Asp) c.2336T>A (p.Val779Asp) c.2309T>A (p.Val770Asp) c.2303T>A (p.Val768Asp) c.2297T>A (p.Val766Asp) c.2246T>A (p.Val749Asp) c.2165T>A (p.Val722Asp) c.2308-286T>A (n.2308-286T>A) c.2087T>A (p.Val696Asp) c.2208+1103T>A (n.2208+1103T>A) c.1307T>A (p.Val436Asp) n.2583T>A | dbSNP |
17 | g.39724763T>C | CA399302918 | ERBB2 | c.2345T>C (p.Val782Ala) c.2255T>C (p.Val752Ala) c.1517T>C (p.Val506Ala) c.2300T>C (p.Val767Ala) c.*2135T>C (n.*2135T>C) c.451T>C n.3479T>C n.2669T>C c.2483T>C (p.Val828Ala) c.2438T>C (p.Val813Ala) c.2393T>C (p.Val798Ala) c.2462T>C (p.Val821Ala) c.2447T>C (p.Val816Ala) c.2426T>C (p.Val809Ala) c.2420T>C (p.Val807Ala) c.2375T>C (p.Val792Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) c.2336T>C (p.Val779Ala) c.2309T>C (p.Val770Ala) c.2303T>C (p.Val768Ala) c.2297T>C (p.Val766Ala) c.2246T>C (p.Val749Ala) c.2165T>C (p.Val722Ala) c.2308-286T>C (n.2308-286T>C) c.2087T>C (p.Val696Ala) c.2208+1103T>C (n.2208+1103T>C) c.1307T>C (p.Val436Ala) n.2583T>C | dbSNP |
17 | g.39724763T>G | CA399302919 | ERBB2 | c.2345T>G (p.Val782Gly) c.2255T>G (p.Val752Gly) c.1517T>G (p.Val506Gly) c.2300T>G (p.Val767Gly) c.*2135T>G (n.*2135T>G) c.451T>G n.3479T>G n.2669T>G c.2483T>G (p.Val828Gly) c.2438T>G (p.Val813Gly) c.2393T>G (p.Val798Gly) c.2462T>G (p.Val821Gly) c.2447T>G (p.Val816Gly) c.2426T>G (p.Val809Gly) c.2420T>G (p.Val807Gly) c.2375T>G (p.Val792Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) c.2336T>G (p.Val779Gly) c.2309T>G (p.Val770Gly) c.2303T>G (p.Val768Gly) c.2297T>G (p.Val766Gly) c.2246T>G (p.Val749Gly) c.2165T>G (p.Val722Gly) c.2308-286T>G (n.2308-286T>G) c.2087T>G (p.Val696Gly) c.2208+1103T>G (n.2208+1103T>G) c.1307T>G (p.Val436Gly) n.2583T>G | dbSNP |
17 | g.39724764C>A | CA499670853 | ERBB2 | c.2346C>A (p.Val782=) c.2256C>A (p.Val752=) c.1518C>A (p.Val506=) c.2301C>A (p.Val767=) c.*2136C>A (n.*2136C>A) c.452C>A n.3480C>A n.2670C>A c.2484C>A (p.Val828=) c.2439C>A (p.Val813=) c.2394C>A (p.Val798=) c.2463C>A (p.Val821=) c.2448C>A (p.Val816=) c.2427C>A (p.Val809=) c.2421C>A (p.Val807=) c.2376C>A (p.Val792=) c.2367C>A (p.Val789=) c.2343C>A (p.Val781=) c.2337C>A (p.Val779=) c.2310C>A (p.Val770=) c.2304C>A (p.Val768=) c.2298C>A (p.Val766=) c.2247C>A (p.Val749=) c.2166C>A (p.Val722=) c.2308-285C>A (n.2308-285C>A) c.2088C>A (p.Val696=) c.2208+1104C>A (n.2208+1104C>A) c.1308C>A (p.Val436=) n.2584C>A | dbSNP |
17 | g.39724764C= | CA2259227997 | ERBB2 | c.2346C= (p.Val782=) c.2256C= (p.Val752=) c.1518C= (p.Val506=) c.2301C= (p.Val767=) c.*2136C= (n.*2136C=) c.452C= n.3480C= n.2670C= c.2484C= (p.Val828=) c.2439C= (p.Val813=) c.2394C= (p.Val798=) c.2463C= (p.Val821=) c.2448C= (p.Val816=) c.2427C= (p.Val809=) c.2421C= (p.Val807=) c.2376C= (p.Val792=) c.2367C= (p.Val789=) c.2343C= (p.Val781=) c.2337C= (p.Val779=) c.2310C= (p.Val770=) c.2304C= (p.Val768=) c.2298C= (p.Val766=) c.2247C= (p.Val749=) c.2166C= (p.Val722=) c.2308-285C= (n.2308-285C=) c.2088C= (p.Val696=) c.2208+1104C= (n.2208+1104C=) c.1308C= (p.Val436=) n.2584C= | |
17 | g.39724764C>G | CA499670854 | ERBB2 | c.2346C>G (p.Val782=) c.2256C>G (p.Val752=) c.1518C>G (p.Val506=) c.2301C>G (p.Val767=) c.*2136C>G (n.*2136C>G) c.452C>G n.3480C>G n.2670C>G c.2484C>G (p.Val828=) c.2439C>G (p.Val813=) c.2394C>G (p.Val798=) c.2463C>G (p.Val821=) c.2448C>G (p.Val816=) c.2427C>G (p.Val809=) c.2421C>G (p.Val807=) c.2376C>G (p.Val792=) c.2367C>G (p.Val789=) c.2343C>G (p.Val781=) c.2337C>G (p.Val779=) c.2310C>G (p.Val770=) c.2304C>G (p.Val768=) c.2298C>G (p.Val766=) c.2247C>G (p.Val749=) c.2166C>G (p.Val722=) c.2308-285C>G (n.2308-285C>G) c.2088C>G (p.Val696=) c.2208+1104C>G (n.2208+1104C>G) c.1308C>G (p.Val436=) n.2584C>G | dbSNP gnomAD v4 |
17 | g.39724764C>T | CA499670855 | ERBB2 | c.2346C>T (p.Val782=) c.2256C>T (p.Val752=) c.1518C>T (p.Val506=) c.2301C>T (p.Val767=) c.*2136C>T (n.*2136C>T) c.452C>T n.3480C>T n.2670C>T c.2484C>T (p.Val828=) c.2439C>T (p.Val813=) c.2394C>T (p.Val798=) c.2463C>T (p.Val821=) c.2448C>T (p.Val816=) c.2427C>T (p.Val809=) c.2421C>T (p.Val807=) c.2376C>T (p.Val792=) c.2367C>T (p.Val789=) c.2343C>T (p.Val781=) c.2337C>T (p.Val779=) c.2310C>T (p.Val770=) c.2304C>T (p.Val768=) c.2298C>T (p.Val766=) c.2247C>T (p.Val749=) c.2166C>T (p.Val722=) c.2308-285C>T (n.2308-285C>T) c.2088C>T (p.Val696=) c.2208+1104C>T (n.2208+1104C>T) c.1308C>T (p.Val436=) n.2584C>T | ClinVar dbSNP gnomAD v4 |
17 | g.39724765T>A | CA399302920 | ERBB2 | c.2347T>A (p.Ser783Thr) c.2257T>A (p.Ser753Thr) c.1519T>A (p.Ser507Thr) c.2302T>A (p.Ser768Thr) c.*2137T>A (n.*2137T>A) c.453T>A n.3481T>A n.2671T>A c.2485T>A (p.Ser829Thr) c.2440T>A (p.Ser814Thr) c.2395T>A (p.Ser799Thr) c.2464T>A (p.Ser822Thr) c.2449T>A (p.Ser817Thr) c.2428T>A (p.Ser810Thr) c.2422T>A (p.Ser808Thr) c.2377T>A (p.Ser793Thr) c.2368T>A (p.Ser790Thr) c.2344T>A (p.Ser782Thr) c.2338T>A (p.Ser780Thr) c.2311T>A (p.Ser771Thr) c.2305T>A (p.Ser769Thr) c.2299T>A (p.Ser767Thr) c.2248T>A (p.Ser750Thr) c.2167T>A (p.Ser723Thr) c.2308-284T>A (n.2308-284T>A) c.2089T>A (p.Ser697Thr) c.2208+1105T>A (n.2208+1105T>A) c.1309T>A (p.Ser437Thr) n.2585T>A | |
17 | g.39724765T>C | CA399302922 | ERBB2 | c.2347T>C (p.Ser783Pro) c.2257T>C (p.Ser753Pro) c.1519T>C (p.Ser507Pro) c.2302T>C (p.Ser768Pro) c.*2137T>C (n.*2137T>C) c.453T>C n.3481T>C n.2671T>C c.2485T>C (p.Ser829Pro) c.2440T>C (p.Ser814Pro) c.2395T>C (p.Ser799Pro) c.2464T>C (p.Ser822Pro) c.2449T>C (p.Ser817Pro) c.2428T>C (p.Ser810Pro) c.2422T>C (p.Ser808Pro) c.2377T>C (p.Ser793Pro) c.2368T>C (p.Ser790Pro) c.2344T>C (p.Ser782Pro) c.2338T>C (p.Ser780Pro) c.2311T>C (p.Ser771Pro) c.2305T>C (p.Ser769Pro) c.2299T>C (p.Ser767Pro) c.2248T>C (p.Ser750Pro) c.2167T>C (p.Ser723Pro) c.2308-284T>C (n.2308-284T>C) c.2089T>C (p.Ser697Pro) c.2208+1105T>C (n.2208+1105T>C) c.1309T>C (p.Ser437Pro) n.2585T>C | |
17 | g.39724765T>G | CA399302925 | ERBB2 | c.2347T>G (p.Ser783Ala) c.2257T>G (p.Ser753Ala) c.1519T>G (p.Ser507Ala) c.2302T>G (p.Ser768Ala) c.*2137T>G (n.*2137T>G) c.453T>G n.3481T>G n.2671T>G c.2485T>G (p.Ser829Ala) c.2440T>G (p.Ser814Ala) c.2395T>G (p.Ser799Ala) c.2464T>G (p.Ser822Ala) c.2449T>G (p.Ser817Ala) c.2428T>G (p.Ser810Ala) c.2422T>G (p.Ser808Ala) c.2377T>G (p.Ser793Ala) c.2368T>G (p.Ser790Ala) c.2344T>G (p.Ser782Ala) c.2338T>G (p.Ser780Ala) c.2311T>G (p.Ser771Ala) c.2305T>G (p.Ser769Ala) c.2299T>G (p.Ser767Ala) c.2248T>G (p.Ser750Ala) c.2167T>G (p.Ser723Ala) c.2308-284T>G (n.2308-284T>G) c.2089T>G (p.Ser697Ala) c.2208+1105T>G (n.2208+1105T>G) c.1309T>G (p.Ser437Ala) n.2585T>G | |
17 | g.39724766C>A | CA399302928 | ERBB2 | c.2348C>A (p.Ser783Tyr) c.2258C>A (p.Ser753Tyr) c.1520C>A (p.Ser507Tyr) c.2303C>A (p.Ser768Tyr) c.*2138C>A (n.*2138C>A) c.454C>A n.3482C>A n.2672C>A c.2486C>A (p.Ser829Tyr) c.2441C>A (p.Ser814Tyr) c.2396C>A (p.Ser799Tyr) c.2465C>A (p.Ser822Tyr) c.2450C>A (p.Ser817Tyr) c.2429C>A (p.Ser810Tyr) c.2423C>A (p.Ser808Tyr) c.2378C>A (p.Ser793Tyr) c.2369C>A (p.Ser790Tyr) c.2345C>A (p.Ser782Tyr) c.2339C>A (p.Ser780Tyr) c.2312C>A (p.Ser771Tyr) c.2306C>A (p.Ser769Tyr) c.2300C>A (p.Ser767Tyr) c.2249C>A (p.Ser750Tyr) c.2168C>A (p.Ser723Tyr) c.2308-283C>A (n.2308-283C>A) c.2090C>A (p.Ser697Tyr) c.2208+1106C>A (n.2208+1106C>A) c.1310C>A (p.Ser437Tyr) n.2586C>A | dbSNP |
17 | g.39724766C>G | CA399302930 | ERBB2 | c.2348C>G (p.Ser783Cys) c.2258C>G (p.Ser753Cys) c.1520C>G (p.Ser507Cys) c.2303C>G (p.Ser768Cys) c.*2138C>G (n.*2138C>G) c.454C>G n.3482C>G n.2672C>G c.2486C>G (p.Ser829Cys) c.2441C>G (p.Ser814Cys) c.2396C>G (p.Ser799Cys) c.2465C>G (p.Ser822Cys) c.2450C>G (p.Ser817Cys) c.2429C>G (p.Ser810Cys) c.2423C>G (p.Ser808Cys) c.2378C>G (p.Ser793Cys) c.2369C>G (p.Ser790Cys) c.2345C>G (p.Ser782Cys) c.2339C>G (p.Ser780Cys) c.2312C>G (p.Ser771Cys) c.2306C>G (p.Ser769Cys) c.2300C>G (p.Ser767Cys) c.2249C>G (p.Ser750Cys) c.2168C>G (p.Ser723Cys) c.2308-283C>G (n.2308-283C>G) c.2090C>G (p.Ser697Cys) c.2208+1106C>G (n.2208+1106C>G) c.1310C>G (p.Ser437Cys) n.2586C>G | dbSNP |
17 | g.39724766C>T | CA399302937 | ERBB2 | c.2348C>T (p.Ser783Phe) c.2258C>T (p.Ser753Phe) c.1520C>T (p.Ser507Phe) c.2303C>T (p.Ser768Phe) c.*2138C>T (n.*2138C>T) c.454C>T n.3482C>T n.2672C>T c.2486C>T (p.Ser829Phe) c.2441C>T (p.Ser814Phe) c.2396C>T (p.Ser799Phe) c.2465C>T (p.Ser822Phe) c.2450C>T (p.Ser817Phe) c.2429C>T (p.Ser810Phe) c.2423C>T (p.Ser808Phe) c.2378C>T (p.Ser793Phe) c.2369C>T (p.Ser790Phe) c.2345C>T (p.Ser782Phe) c.2339C>T (p.Ser780Phe) c.2312C>T (p.Ser771Phe) c.2306C>T (p.Ser769Phe) c.2300C>T (p.Ser767Phe) c.2249C>T (p.Ser750Phe) c.2168C>T (p.Ser723Phe) c.2308-283C>T (n.2308-283C>T) c.2090C>T (p.Ser697Phe) c.2208+1106C>T (n.2208+1106C>T) c.1310C>T (p.Ser437Phe) n.2586C>T | dbSNP |
17 | g.39724767C>A | CA499670856 | ERBB2 | c.2349C>A (p.Ser783=) c.2259C>A (p.Ser753=) c.1521C>A (p.Ser507=) c.2304C>A (p.Ser768=) c.*2139C>A (n.*2139C>A) c.455C>A n.3483C>A n.2673C>A c.2487C>A (p.Ser829=) c.2442C>A (p.Ser814=) c.2397C>A (p.Ser799=) c.2466C>A (p.Ser822=) c.2451C>A (p.Ser817=) c.2430C>A (p.Ser810=) c.2424C>A (p.Ser808=) c.2379C>A (p.Ser793=) c.2370C>A (p.Ser790=) c.2346C>A (p.Ser782=) c.2340C>A (p.Ser780=) c.2313C>A (p.Ser771=) c.2307C>A (p.Ser769=) c.2301C>A (p.Ser767=) c.2250C>A (p.Ser750=) c.2169C>A (p.Ser723=) c.2308-282C>A (n.2308-282C>A) c.2091C>A (p.Ser697=) c.2208+1107C>A (n.2208+1107C>A) c.1311C>A (p.Ser437=) n.2587C>A | dbSNP |
17 | g.39724767C= | CA2259227998 | ERBB2 | c.2349C= (p.Ser783=) c.2259C= (p.Ser753=) c.1521C= (p.Ser507=) c.2304C= (p.Ser768=) c.*2139C= (n.*2139C=) c.455C= n.3483C= n.2673C= c.2487C= (p.Ser829=) c.2442C= (p.Ser814=) c.2397C= (p.Ser799=) c.2466C= (p.Ser822=) c.2451C= (p.Ser817=) c.2430C= (p.Ser810=) c.2424C= (p.Ser808=) c.2379C= (p.Ser793=) c.2370C= (p.Ser790=) c.2346C= (p.Ser782=) c.2340C= (p.Ser780=) c.2313C= (p.Ser771=) c.2307C= (p.Ser769=) c.2301C= (p.Ser767=) c.2250C= (p.Ser750=) c.2169C= (p.Ser723=) c.2308-282C= (n.2308-282C=) c.2091C= (p.Ser697=) c.2208+1107C= (n.2208+1107C=) c.1311C= (p.Ser437=) n.2587C= | |
17 | g.39724767C>G | CA499670857 | ERBB2 | c.2349C>G (p.Ser783=) c.2259C>G (p.Ser753=) c.1521C>G (p.Ser507=) c.2304C>G (p.Ser768=) c.*2139C>G (n.*2139C>G) c.455C>G n.3483C>G n.2673C>G c.2487C>G (p.Ser829=) c.2442C>G (p.Ser814=) c.2397C>G (p.Ser799=) c.2466C>G (p.Ser822=) c.2451C>G (p.Ser817=) c.2430C>G (p.Ser810=) c.2424C>G (p.Ser808=) c.2379C>G (p.Ser793=) c.2370C>G (p.Ser790=) c.2346C>G (p.Ser782=) c.2340C>G (p.Ser780=) c.2313C>G (p.Ser771=) c.2307C>G (p.Ser769=) c.2301C>G (p.Ser767=) c.2250C>G (p.Ser750=) c.2169C>G (p.Ser723=) c.2308-282C>G (n.2308-282C>G) c.2091C>G (p.Ser697=) c.2208+1107C>G (n.2208+1107C>G) c.1311C>G (p.Ser437=) n.2587C>G | dbSNP |
17 | g.39724767C>T | CA8534285 | ERBB2 | c.2349C>T (p.Ser783=) c.2259C>T (p.Ser753=) c.1521C>T (p.Ser507=) c.2304C>T (p.Ser768=) c.*2139C>T (n.*2139C>T) c.455C>T n.3483C>T n.2673C>T c.2487C>T (p.Ser829=) c.2442C>T (p.Ser814=) c.2397C>T (p.Ser799=) c.2466C>T (p.Ser822=) c.2451C>T (p.Ser817=) c.2430C>T (p.Ser810=) c.2424C>T (p.Ser808=) c.2379C>T (p.Ser793=) c.2370C>T (p.Ser790=) c.2346C>T (p.Ser782=) c.2340C>T (p.Ser780=) c.2313C>T (p.Ser771=) c.2307C>T (p.Ser769=) c.2301C>T (p.Ser767=) c.2250C>T (p.Ser750=) c.2169C>T (p.Ser723=) c.2308-282C>T (n.2308-282C>T) c.2091C>T (p.Ser697=) c.2208+1107C>T (n.2208+1107C>T) c.1311C>T (p.Ser437=) n.2587C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724768C>A | CA399302945 | ERBB2 | c.2350C>A (p.Arg784Ser) c.2260C>A (p.Arg754Ser) c.1522C>A (p.Arg508Ser) c.2305C>A (p.Arg769Ser) c.*2140C>A (n.*2140C>A) c.456C>A n.3484C>A n.2674C>A c.2488C>A (p.Arg830Ser) c.2443C>A (p.Arg815Ser) c.2398C>A (p.Arg800Ser) c.2467C>A (p.Arg823Ser) c.2452C>A (p.Arg818Ser) c.2431C>A (p.Arg811Ser) c.2425C>A (p.Arg809Ser) c.2380C>A (p.Arg794Ser) c.2371C>A (p.Arg791Ser) c.2347C>A (p.Arg783Ser) c.2341C>A (p.Arg781Ser) c.2314C>A (p.Arg772Ser) c.2308C>A (p.Arg770Ser) c.2302C>A (p.Arg768Ser) c.2251C>A (p.Arg751Ser) c.2170C>A (p.Arg724Ser) c.2308-281C>A (n.2308-281C>A) c.2092C>A (p.Arg698Ser) c.2208+1108C>A (n.2208+1108C>A) c.1312C>A (p.Arg438Ser) n.2588C>A | dbSNP COSMIC |
17 | g.39724768C= | CA2259227999 | ERBB2 | c.2350C= (p.Arg784=) c.2260C= (p.Arg754=) c.1522C= (p.Arg508=) c.2305C= (p.Arg769=) c.*2140C= (n.*2140C=) c.456C= n.3484C= n.2674C= c.2488C= (p.Arg830=) c.2443C= (p.Arg815=) c.2398C= (p.Arg800=) c.2467C= (p.Arg823=) c.2452C= (p.Arg818=) c.2431C= (p.Arg811=) c.2425C= (p.Arg809=) c.2380C= (p.Arg794=) c.2371C= (p.Arg791=) c.2347C= (p.Arg783=) c.2341C= (p.Arg781=) c.2314C= (p.Arg772=) c.2308C= (p.Arg770=) c.2302C= (p.Arg768=) c.2251C= (p.Arg751=) c.2170C= (p.Arg724=) c.2308-281C= (n.2308-281C=) c.2092C= (p.Arg698=) c.2208+1108C= (n.2208+1108C=) c.1312C= (p.Arg438=) n.2588C= | |
17 | g.39724768C>G | CA399302948 | ERBB2 | c.2350C>G (p.Arg784Gly) c.2260C>G (p.Arg754Gly) c.1522C>G (p.Arg508Gly) c.2305C>G (p.Arg769Gly) c.*2140C>G (n.*2140C>G) c.456C>G n.3484C>G n.2674C>G c.2488C>G (p.Arg830Gly) c.2443C>G (p.Arg815Gly) c.2398C>G (p.Arg800Gly) c.2467C>G (p.Arg823Gly) c.2452C>G (p.Arg818Gly) c.2431C>G (p.Arg811Gly) c.2425C>G (p.Arg809Gly) c.2380C>G (p.Arg794Gly) c.2371C>G (p.Arg791Gly) c.2347C>G (p.Arg783Gly) c.2341C>G (p.Arg781Gly) c.2314C>G (p.Arg772Gly) c.2308C>G (p.Arg770Gly) c.2302C>G (p.Arg768Gly) c.2251C>G (p.Arg751Gly) c.2170C>G (p.Arg724Gly) c.2308-281C>G (n.2308-281C>G) c.2092C>G (p.Arg698Gly) c.2208+1108C>G (n.2208+1108C>G) c.1312C>G (p.Arg438Gly) n.2588C>G | dbSNP |
17 | g.39724768C>T | CA290440546 | ERBB2 | c.2350C>T (p.Arg784Cys) c.2260C>T (p.Arg754Cys) c.1522C>T (p.Arg508Cys) c.2305C>T (p.Arg769Cys) c.*2140C>T (n.*2140C>T) c.456C>T n.3484C>T n.2674C>T c.2488C>T (p.Arg830Cys) c.2443C>T (p.Arg815Cys) c.2398C>T (p.Arg800Cys) c.2467C>T (p.Arg823Cys) c.2452C>T (p.Arg818Cys) c.2431C>T (p.Arg811Cys) c.2425C>T (p.Arg809Cys) c.2380C>T (p.Arg794Cys) c.2371C>T (p.Arg791Cys) c.2347C>T (p.Arg783Cys) c.2341C>T (p.Arg781Cys) c.2314C>T (p.Arg772Cys) c.2308C>T (p.Arg770Cys) c.2302C>T (p.Arg768Cys) c.2251C>T (p.Arg751Cys) c.2170C>T (p.Arg724Cys) c.2308-281C>T (n.2308-281C>T) c.2092C>T (p.Arg698Cys) c.2208+1108C>T (n.2208+1108C>T) c.1312C>T (p.Arg438Cys) n.2588C>T | dbSNP gnomAD v4 COSMIC |
17 | g.39724769G>A | CA8534286 | ERBB2 | c.2351G>A (p.Arg784His) c.2261G>A (p.Arg754His) c.1523G>A (p.Arg508His) c.2306G>A (p.Arg769His) c.*2141G>A (n.*2141G>A) c.457G>A n.3485G>A n.2675G>A c.2489G>A (p.Arg830His) c.2444G>A (p.Arg815His) c.2399G>A (p.Arg800His) c.2468G>A (p.Arg823His) c.2453G>A (p.Arg818His) c.2432G>A (p.Arg811His) c.2426G>A (p.Arg809His) c.2381G>A (p.Arg794His) c.2372G>A (p.Arg791His) c.2348G>A (p.Arg783His) c.2342G>A (p.Arg781His) c.2315G>A (p.Arg772His) c.2309G>A (p.Arg770His) c.2303G>A (p.Arg768His) c.2252G>A (p.Arg751His) c.2171G>A (p.Arg724His) c.2308-280G>A (n.2308-280G>A) c.2093G>A (p.Arg698His) c.2208+1109G>A (n.2208+1109G>A) c.1313G>A (p.Arg438His) n.2589G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.39724769G>C | CA399302955 | ERBB2 | c.2351G>C (p.Arg784Pro) c.2261G>C (p.Arg754Pro) c.1523G>C (p.Arg508Pro) c.2306G>C (p.Arg769Pro) c.*2141G>C (n.*2141G>C) c.457G>C n.3485G>C n.2675G>C c.2489G>C (p.Arg830Pro) c.2444G>C (p.Arg815Pro) c.2399G>C (p.Arg800Pro) c.2468G>C (p.Arg823Pro) c.2453G>C (p.Arg818Pro) c.2432G>C (p.Arg811Pro) c.2426G>C (p.Arg809Pro) c.2381G>C (p.Arg794Pro) c.2372G>C (p.Arg791Pro) c.2348G>C (p.Arg783Pro) c.2342G>C (p.Arg781Pro) c.2315G>C (p.Arg772Pro) c.2309G>C (p.Arg770Pro) c.2303G>C (p.Arg768Pro) c.2252G>C (p.Arg751Pro) c.2171G>C (p.Arg724Pro) c.2308-280G>C (n.2308-280G>C) c.2093G>C (p.Arg698Pro) c.2208+1109G>C (n.2208+1109G>C) c.1313G>C (p.Arg438Pro) n.2589G>C | dbSNP |
17 | g.39724769G= | CA2259228000 | ERBB2 | c.2351G= (p.Arg784=) c.2261G= (p.Arg754=) c.1523G= (p.Arg508=) c.2306G= (p.Arg769=) c.*2141G= (n.*2141G=) c.457G= n.3485G= n.2675G= c.2489G= (p.Arg830=) c.2444G= (p.Arg815=) c.2399G= (p.Arg800=) c.2468G= (p.Arg823=) c.2453G= (p.Arg818=) c.2432G= (p.Arg811=) c.2426G= (p.Arg809=) c.2381G= (p.Arg794=) c.2372G= (p.Arg791=) c.2348G= (p.Arg783=) c.2342G= (p.Arg781=) c.2315G= (p.Arg772=) c.2309G= (p.Arg770=) c.2303G= (p.Arg768=) c.2252G= (p.Arg751=) c.2171G= (p.Arg724=) c.2308-280G= (n.2308-280G=) c.2093G= (p.Arg698=) c.2208+1109G= (n.2208+1109G=) c.1313G= (p.Arg438=) n.2589G= | |
17 | g.39724769G>T | CA399302958 | ERBB2 | c.2351G>T (p.Arg784Leu) c.2261G>T (p.Arg754Leu) c.1523G>T (p.Arg508Leu) c.2306G>T (p.Arg769Leu) c.*2141G>T (n.*2141G>T) c.457G>T n.3485G>T n.2675G>T c.2489G>T (p.Arg830Leu) c.2444G>T (p.Arg815Leu) c.2399G>T (p.Arg800Leu) c.2468G>T (p.Arg823Leu) c.2453G>T (p.Arg818Leu) c.2432G>T (p.Arg811Leu) c.2426G>T (p.Arg809Leu) c.2381G>T (p.Arg794Leu) c.2372G>T (p.Arg791Leu) c.2348G>T (p.Arg783Leu) c.2342G>T (p.Arg781Leu) c.2315G>T (p.Arg772Leu) c.2309G>T (p.Arg770Leu) c.2303G>T (p.Arg768Leu) c.2252G>T (p.Arg751Leu) c.2171G>T (p.Arg724Leu) c.2308-280G>T (n.2308-280G>T) c.2093G>T (p.Arg698Leu) c.2208+1109G>T (n.2208+1109G>T) c.1313G>T (p.Arg438Leu) n.2589G>T | dbSNP |
17 | g.39724770C>A | CA499670858 | ERBB2 | c.2352C>A (p.Arg784=) c.2262C>A (p.Arg754=) c.1524C>A (p.Arg508=) c.2307C>A (p.Arg769=) c.*2142C>A (n.*2142C>A) c.458C>A n.3486C>A n.2676C>A c.2490C>A (p.Arg830=) c.2445C>A (p.Arg815=) c.2400C>A (p.Arg800=) c.2469C>A (p.Arg823=) c.2454C>A (p.Arg818=) c.2433C>A (p.Arg811=) c.2427C>A (p.Arg809=) c.2382C>A (p.Arg794=) c.2373C>A (p.Arg791=) c.2349C>A (p.Arg783=) c.2343C>A (p.Arg781=) c.2316C>A (p.Arg772=) c.2310C>A (p.Arg770=) c.2304C>A (p.Arg768=) c.2253C>A (p.Arg751=) c.2172C>A (p.Arg724=) c.2308-279C>A (n.2308-279C>A) c.2094C>A (p.Arg698=) c.2208+1110C>A (n.2208+1110C>A) c.1314C>A (p.Arg438=) n.2590C>A | dbSNP |
17 | g.39724770C>G | CA499670859 | ERBB2 | c.2352C>G (p.Arg784=) c.2262C>G (p.Arg754=) c.1524C>G (p.Arg508=) c.2307C>G (p.Arg769=) c.*2142C>G (n.*2142C>G) c.458C>G n.3486C>G n.2676C>G c.2490C>G (p.Arg830=) c.2445C>G (p.Arg815=) c.2400C>G (p.Arg800=) c.2469C>G (p.Arg823=) c.2454C>G (p.Arg818=) c.2433C>G (p.Arg811=) c.2427C>G (p.Arg809=) c.2382C>G (p.Arg794=) c.2373C>G (p.Arg791=) c.2349C>G (p.Arg783=) c.2343C>G (p.Arg781=) c.2316C>G (p.Arg772=) c.2310C>G (p.Arg770=) c.2304C>G (p.Arg768=) c.2253C>G (p.Arg751=) c.2172C>G (p.Arg724=) c.2308-279C>G (n.2308-279C>G) c.2094C>G (p.Arg698=) c.2208+1110C>G (n.2208+1110C>G) c.1314C>G (p.Arg438=) n.2590C>G | dbSNP |
17 | g.39724770C>T | CA499670860 | ERBB2 | c.2352C>T (p.Arg784=) c.2262C>T (p.Arg754=) c.1524C>T (p.Arg508=) c.2307C>T (p.Arg769=) c.*2142C>T (n.*2142C>T) c.458C>T n.3486C>T n.2676C>T c.2490C>T (p.Arg830=) c.2445C>T (p.Arg815=) c.2400C>T (p.Arg800=) c.2469C>T (p.Arg823=) c.2454C>T (p.Arg818=) c.2433C>T (p.Arg811=) c.2427C>T (p.Arg809=) c.2382C>T (p.Arg794=) c.2373C>T (p.Arg791=) c.2349C>T (p.Arg783=) c.2343C>T (p.Arg781=) c.2316C>T (p.Arg772=) c.2310C>T (p.Arg770=) c.2304C>T (p.Arg768=) c.2253C>T (p.Arg751=) c.2172C>T (p.Arg724=) c.2308-279C>T (n.2308-279C>T) c.2094C>T (p.Arg698=) c.2208+1110C>T (n.2208+1110C>T) c.1314C>T (p.Arg438=) n.2590C>T | dbSNP |
17 | g.39724771C>A | CA399302961 | ERBB2 | c.2353C>A (p.Leu785Ile) c.2263C>A (p.Leu755Ile) c.1525C>A (p.Leu509Ile) c.2308C>A (p.Leu770Ile) c.*2143C>A (n.*2143C>A) c.459C>A n.3487C>A n.2677C>A c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2401C>A (p.Leu801Ile) c.2470C>A (p.Leu824Ile) c.2455C>A (p.Leu819Ile) c.2434C>A (p.Leu812Ile) c.2428C>A (p.Leu810Ile) c.2383C>A (p.Leu795Ile) c.2374C>A (p.Leu792Ile) c.2350C>A (p.Leu784Ile) c.2344C>A (p.Leu782Ile) c.2317C>A (p.Leu773Ile) c.2311C>A (p.Leu771Ile) c.2305C>A (p.Leu769Ile) c.2254C>A (p.Leu752Ile) c.2173C>A (p.Leu725Ile) c.2308-278C>A (n.2308-278C>A) c.2095C>A (p.Leu699Ile) c.2208+1111C>A (n.2208+1111C>A) c.1315C>A (p.Leu439Ile) n.2591C>A | |
17 | g.39724771C>G | CA399302964 | ERBB2 | c.2353C>G (p.Leu785Val) c.2263C>G (p.Leu755Val) c.1525C>G (p.Leu509Val) c.2308C>G (p.Leu770Val) c.*2143C>G (n.*2143C>G) c.459C>G n.3487C>G n.2677C>G c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2401C>G (p.Leu801Val) c.2470C>G (p.Leu824Val) c.2455C>G (p.Leu819Val) c.2434C>G (p.Leu812Val) c.2428C>G (p.Leu810Val) c.2383C>G (p.Leu795Val) c.2374C>G (p.Leu792Val) c.2350C>G (p.Leu784Val) c.2344C>G (p.Leu782Val) c.2317C>G (p.Leu773Val) c.2311C>G (p.Leu771Val) c.2305C>G (p.Leu769Val) c.2254C>G (p.Leu752Val) c.2173C>G (p.Leu725Val) c.2308-278C>G (n.2308-278C>G) c.2095C>G (p.Leu699Val) c.2208+1111C>G (n.2208+1111C>G) c.1315C>G (p.Leu439Val) n.2591C>G | dbSNP |
17 | g.39724771C>T | CA399302967 | ERBB2 | c.2353C>T (p.Leu785Phe) c.2263C>T (p.Leu755Phe) c.1525C>T (p.Leu509Phe) c.2308C>T (p.Leu770Phe) c.*2143C>T (n.*2143C>T) c.459C>T n.3487C>T n.2677C>T c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2401C>T (p.Leu801Phe) c.2470C>T (p.Leu824Phe) c.2455C>T (p.Leu819Phe) c.2434C>T (p.Leu812Phe) c.2428C>T (p.Leu810Phe) c.2383C>T (p.Leu795Phe) c.2374C>T (p.Leu792Phe) c.2350C>T (p.Leu784Phe) c.2344C>T (p.Leu782Phe) c.2317C>T (p.Leu773Phe) c.2311C>T (p.Leu771Phe) c.2305C>T (p.Leu769Phe) c.2254C>T (p.Leu752Phe) c.2173C>T (p.Leu725Phe) c.2308-278C>T (n.2308-278C>T) c.2095C>T (p.Leu699Phe) c.2208+1111C>T (n.2208+1111C>T) c.1315C>T (p.Leu439Phe) n.2591C>T | dbSNP |
17 | g.39724772T>A | CA399302973 | ERBB2 | c.2354T>A (p.Leu785His) c.2264T>A (p.Leu755His) c.1526T>A (p.Leu509His) c.2309T>A (p.Leu770His) c.*2144T>A (n.*2144T>A) c.460T>A n.3488T>A n.2678T>A c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2402T>A (p.Leu801His) c.2471T>A (p.Leu824His) c.2456T>A (p.Leu819His) c.2435T>A (p.Leu812His) c.2429T>A (p.Leu810His) c.2384T>A (p.Leu795His) c.2375T>A (p.Leu792His) c.2351T>A (p.Leu784His) c.2345T>A (p.Leu782His) c.2318T>A (p.Leu773His) c.2312T>A (p.Leu771His) c.2306T>A (p.Leu769His) c.2255T>A (p.Leu752His) c.2174T>A (p.Leu725His) c.2308-277T>A (n.2308-277T>A) c.2096T>A (p.Leu699His) c.2208+1112T>A (n.2208+1112T>A) c.1316T>A (p.Leu439His) n.2592T>A | dbSNP |
17 | g.39724772T>C | CA16602776 | ERBB2 | c.2354T>C (p.Leu785Pro) c.2264T>C (p.Leu755Pro) c.1526T>C (p.Leu509Pro) c.2309T>C (p.Leu770Pro) c.*2144T>C (n.*2144T>C) c.460T>C n.3488T>C n.2678T>C c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2402T>C (p.Leu801Pro) c.2471T>C (p.Leu824Pro) c.2456T>C (p.Leu819Pro) c.2435T>C (p.Leu812Pro) c.2429T>C (p.Leu810Pro) c.2384T>C (p.Leu795Pro) c.2375T>C (p.Leu792Pro) c.2351T>C (p.Leu784Pro) c.2345T>C (p.Leu782Pro) c.2318T>C (p.Leu773Pro) c.2312T>C (p.Leu771Pro) c.2306T>C (p.Leu769Pro) c.2255T>C (p.Leu752Pro) c.2174T>C (p.Leu725Pro) c.2308-277T>C (n.2308-277T>C) c.2096T>C (p.Leu699Pro) c.2208+1112T>C (n.2208+1112T>C) c.1316T>C (p.Leu439Pro) n.2592T>C | ClinVar dbSNP |
17 | g.39724772T>G | CA399302982 | ERBB2 | c.2354T>G (p.Leu785Arg) c.2264T>G (p.Leu755Arg) c.1526T>G (p.Leu509Arg) c.2309T>G (p.Leu770Arg) c.*2144T>G (n.*2144T>G) c.460T>G n.3488T>G n.2678T>G c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2402T>G (p.Leu801Arg) c.2471T>G (p.Leu824Arg) c.2456T>G (p.Leu819Arg) c.2435T>G (p.Leu812Arg) c.2429T>G (p.Leu810Arg) c.2384T>G (p.Leu795Arg) c.2375T>G (p.Leu792Arg) c.2351T>G (p.Leu784Arg) c.2345T>G (p.Leu782Arg) c.2318T>G (p.Leu773Arg) c.2312T>G (p.Leu771Arg) c.2306T>G (p.Leu769Arg) c.2255T>G (p.Leu752Arg) c.2174T>G (p.Leu725Arg) c.2308-277T>G (n.2308-277T>G) c.2096T>G (p.Leu699Arg) c.2208+1112T>G (n.2208+1112T>G) c.1316T>G (p.Leu439Arg) n.2592T>G | dbSNP |
17 | g.39724772T= | CA2259228001 | ERBB2 | c.2354T= (p.Leu785=) c.2264T= (p.Leu755=) c.1526T= (p.Leu509=) c.2309T= (p.Leu770=) c.*2144T= (n.*2144T=) c.460T= n.3488T= n.2678T= c.2492T= (p.Leu831=) c.2447T= (p.Leu816=) c.2402T= (p.Leu801=) c.2471T= (p.Leu824=) c.2456T= (p.Leu819=) c.2435T= (p.Leu812=) c.2429T= (p.Leu810=) c.2384T= (p.Leu795=) c.2375T= (p.Leu792=) c.2351T= (p.Leu784=) c.2345T= (p.Leu782=) c.2318T= (p.Leu773=) c.2312T= (p.Leu771=) c.2306T= (p.Leu769=) c.2255T= (p.Leu752=) c.2174T= (p.Leu725=) c.2308-277T= (n.2308-277T=) c.2096T= (p.Leu699=) c.2208+1112T= (n.2208+1112T=) c.1316T= (p.Leu439=) n.2592T= | |
17 | g.39724772_39724773delinsGG | CA645578287 | ERBB2 | c.2354_2355delinsGG (p.Leu785Arg) c.2264_2265delinsGG (p.Leu755Arg) c.1526_1527delinsGG (p.Leu509Arg) c.2309_2310delinsGG (p.Leu770Arg) c.*2144_*2145delinsGG (n.*2144_*2145delinsGG) c.460_461delinsGG n.3488_3489delinsGG n.2678_2679delinsGG c.2492_2493delinsGG (p.Leu831Arg) c.2447_2448delinsGG (p.Leu816Arg) c.2402_2403delinsGG (p.Leu801Arg) c.2471_2472delinsGG (p.Leu824Arg) c.2456_2457delinsGG (p.Leu819Arg) c.2435_2436delinsGG (p.Leu812Arg) c.2429_2430delinsGG (p.Leu810Arg) c.2384_2385delinsGG (p.Leu795Arg) c.2375_2376delinsGG (p.Leu792Arg) c.2351_2352delinsGG (p.Leu784Arg) c.2345_2346delinsGG (p.Leu782Arg) c.2318_2319delinsGG (p.Leu773Arg) c.2312_2313delinsGG (p.Leu771Arg) c.2306_2307delinsGG (p.Leu769Arg) c.2255_2256delinsGG (p.Leu752Arg) c.2174_2175delinsGG (p.Leu725Arg) c.2308-277_2308-276delinsGG (n.2308-277_2308-276delinsGG) c.2096_2097delinsGG (p.Leu699Arg) c.2208+1112_2208+1113delinsGG (n.2208+1112_2208+1113delinsGG) c.1316_1317delinsGG (p.Leu439Arg) n.2592_2593delinsGG | COSMIC |
17 | g.39724773T>A | CA499670861 | ERBB2 | c.2355T>A (p.Leu785=) c.2265T>A (p.Leu755=) c.1527T>A (p.Leu509=) c.2310T>A (p.Leu770=) c.*2145T>A (n.*2145T>A) c.461T>A n.3489T>A n.2679T>A c.2493T>A (p.Leu831=) c.2448T>A (p.Leu816=) c.2403T>A (p.Leu801=) c.2472T>A (p.Leu824=) c.2457T>A (p.Leu819=) c.2436T>A (p.Leu812=) c.2430T>A (p.Leu810=) c.2385T>A (p.Leu795=) c.2376T>A (p.Leu792=) c.2352T>A (p.Leu784=) c.2346T>A (p.Leu782=) c.2319T>A (p.Leu773=) c.2313T>A (p.Leu771=) c.2307T>A (p.Leu769=) c.2256T>A (p.Leu752=) c.2175T>A (p.Leu725=) c.2308-276T>A (n.2308-276T>A) c.2097T>A (p.Leu699=) c.2208+1113T>A (n.2208+1113T>A) c.1317T>A (p.Leu439=) n.2593T>A | dbSNP |
17 | g.39724773T>C | CA499670863 | ERBB2 | c.2355T>C (p.Leu785=) c.2265T>C (p.Leu755=) c.1527T>C (p.Leu509=) c.2310T>C (p.Leu770=) c.*2145T>C (n.*2145T>C) c.461T>C n.3489T>C n.2679T>C c.2493T>C (p.Leu831=) c.2448T>C (p.Leu816=) c.2403T>C (p.Leu801=) c.2472T>C (p.Leu824=) c.2457T>C (p.Leu819=) c.2436T>C (p.Leu812=) c.2430T>C (p.Leu810=) c.2385T>C (p.Leu795=) c.2376T>C (p.Leu792=) c.2352T>C (p.Leu784=) c.2346T>C (p.Leu782=) c.2319T>C (p.Leu773=) c.2313T>C (p.Leu771=) c.2307T>C (p.Leu769=) c.2256T>C (p.Leu752=) c.2175T>C (p.Leu725=) c.2308-276T>C (n.2308-276T>C) c.2097T>C (p.Leu699=) c.2208+1113T>C (n.2208+1113T>C) c.1317T>C (p.Leu439=) n.2593T>C | dbSNP |
17 | g.39724773T>G | CA499670862 | ERBB2 | c.2355T>G (p.Leu785=) c.2265T>G (p.Leu755=) c.1527T>G (p.Leu509=) c.2310T>G (p.Leu770=) c.*2145T>G (n.*2145T>G) c.461T>G n.3489T>G n.2679T>G c.2493T>G (p.Leu831=) c.2448T>G (p.Leu816=) c.2403T>G (p.Leu801=) c.2472T>G (p.Leu824=) c.2457T>G (p.Leu819=) c.2436T>G (p.Leu812=) c.2430T>G (p.Leu810=) c.2385T>G (p.Leu795=) c.2376T>G (p.Leu792=) c.2352T>G (p.Leu784=) c.2346T>G (p.Leu782=) c.2319T>G (p.Leu773=) c.2313T>G (p.Leu771=) c.2307T>G (p.Leu769=) c.2256T>G (p.Leu752=) c.2175T>G (p.Leu725=) c.2308-276T>G (n.2308-276T>G) c.2097T>G (p.Leu699=) c.2208+1113T>G (n.2208+1113T>G) c.1317T>G (p.Leu439=) n.2593T>G | |
17 | g.39724774C>A | CA399302987 | ERBB2 | c.2356C>A (p.Leu786Met) c.2266C>A (p.Leu756Met) c.1528C>A (p.Leu510Met) c.2311C>A (p.Leu771Met) c.*2146C>A (n.*2146C>A) c.462C>A n.3490C>A n.2680C>A c.2494C>A (p.Leu832Met) c.2449C>A (p.Leu817Met) c.2404C>A (p.Leu802Met) c.2473C>A (p.Leu825Met) c.2458C>A (p.Leu820Met) c.2437C>A (p.Leu813Met) c.2431C>A (p.Leu811Met) c.2386C>A (p.Leu796Met) c.2377C>A (p.Leu793Met) c.2353C>A (p.Leu785Met) c.2347C>A (p.Leu783Met) c.2320C>A (p.Leu774Met) c.2314C>A (p.Leu772Met) c.2308C>A (p.Leu770Met) c.2257C>A (p.Leu753Met) c.2176C>A (p.Leu726Met) c.2308-275C>A (n.2308-275C>A) c.2098C>A (p.Leu700Met) c.2208+1114C>A (n.2208+1114C>A) c.1318C>A (p.Leu440Met) n.2594C>A | |
17 | g.39724774C>G | CA399302990 | ERBB2 | c.2356C>G (p.Leu786Val) c.2266C>G (p.Leu756Val) c.1528C>G (p.Leu510Val) c.2311C>G (p.Leu771Val) c.*2146C>G (n.*2146C>G) c.462C>G n.3490C>G n.2680C>G c.2494C>G (p.Leu832Val) c.2449C>G (p.Leu817Val) c.2404C>G (p.Leu802Val) c.2473C>G (p.Leu825Val) c.2458C>G (p.Leu820Val) c.2437C>G (p.Leu813Val) c.2431C>G (p.Leu811Val) c.2386C>G (p.Leu796Val) c.2377C>G (p.Leu793Val) c.2353C>G (p.Leu785Val) c.2347C>G (p.Leu783Val) c.2320C>G (p.Leu774Val) c.2314C>G (p.Leu772Val) c.2308C>G (p.Leu770Val) c.2257C>G (p.Leu753Val) c.2176C>G (p.Leu726Val) c.2308-275C>G (n.2308-275C>G) c.2098C>G (p.Leu700Val) c.2208+1114C>G (n.2208+1114C>G) c.1318C>G (p.Leu440Val) n.2594C>G | dbSNP |
17 | g.39724774C>T | CA499670864 | ERBB2 | c.2356C>T (p.Leu786=) c.2266C>T (p.Leu756=) c.1528C>T (p.Leu510=) c.2311C>T (p.Leu771=) c.*2146C>T (n.*2146C>T) c.462C>T n.3490C>T n.2680C>T c.2494C>T (p.Leu832=) c.2449C>T (p.Leu817=) c.2404C>T (p.Leu802=) c.2473C>T (p.Leu825=) c.2458C>T (p.Leu820=) c.2437C>T (p.Leu813=) c.2431C>T (p.Leu811=) c.2386C>T (p.Leu796=) c.2377C>T (p.Leu793=) c.2353C>T (p.Leu785=) c.2347C>T (p.Leu783=) c.2320C>T (p.Leu774=) c.2314C>T (p.Leu772=) c.2308C>T (p.Leu770=) c.2257C>T (p.Leu753=) c.2176C>T (p.Leu726=) c.2308-275C>T (n.2308-275C>T) c.2098C>T (p.Leu700=) c.2208+1114C>T (n.2208+1114C>T) c.1318C>T (p.Leu440=) n.2594C>T | dbSNP |
17 | g.39724775T>A | CA399302998 | ERBB2 | c.2357T>A (p.Leu786Gln) c.2267T>A (p.Leu756Gln) c.1529T>A (p.Leu510Gln) c.2312T>A (p.Leu771Gln) c.*2147T>A (n.*2147T>A) c.463T>A n.3491T>A n.2681T>A c.2495T>A (p.Leu832Gln) c.2450T>A (p.Leu817Gln) c.2405T>A (p.Leu802Gln) c.2474T>A (p.Leu825Gln) c.2459T>A (p.Leu820Gln) c.2438T>A (p.Leu813Gln) c.2432T>A (p.Leu811Gln) c.2387T>A (p.Leu796Gln) c.2378T>A (p.Leu793Gln) c.2354T>A (p.Leu785Gln) c.2348T>A (p.Leu783Gln) c.2321T>A (p.Leu774Gln) c.2315T>A (p.Leu772Gln) c.2309T>A (p.Leu770Gln) c.2258T>A (p.Leu753Gln) c.2177T>A (p.Leu726Gln) c.2308-274T>A (n.2308-274T>A) c.2099T>A (p.Leu700Gln) c.2208+1115T>A (n.2208+1115T>A) c.1319T>A (p.Leu440Gln) n.2595T>A | |
17 | g.39724775T>C | CA399302996 | ERBB2 | c.2357T>C (p.Leu786Pro) c.2267T>C (p.Leu756Pro) c.1529T>C (p.Leu510Pro) c.2312T>C (p.Leu771Pro) c.*2147T>C (n.*2147T>C) c.463T>C n.3491T>C n.2681T>C c.2495T>C (p.Leu832Pro) c.2450T>C (p.Leu817Pro) c.2405T>C (p.Leu802Pro) c.2474T>C (p.Leu825Pro) c.2459T>C (p.Leu820Pro) c.2438T>C (p.Leu813Pro) c.2432T>C (p.Leu811Pro) c.2387T>C (p.Leu796Pro) c.2378T>C (p.Leu793Pro) c.2354T>C (p.Leu785Pro) c.2348T>C (p.Leu783Pro) c.2321T>C (p.Leu774Pro) c.2315T>C (p.Leu772Pro) c.2309T>C (p.Leu770Pro) c.2258T>C (p.Leu753Pro) c.2177T>C (p.Leu726Pro) c.2308-274T>C (n.2308-274T>C) c.2099T>C (p.Leu700Pro) c.2208+1115T>C (n.2208+1115T>C) c.1319T>C (p.Leu440Pro) n.2595T>C | |
17 | g.39724775T>G | CA399302993 | ERBB2 | c.2357T>G (p.Leu786Arg) c.2267T>G (p.Leu756Arg) c.1529T>G (p.Leu510Arg) c.2312T>G (p.Leu771Arg) c.*2147T>G (n.*2147T>G) c.463T>G n.3491T>G n.2681T>G c.2495T>G (p.Leu832Arg) c.2450T>G (p.Leu817Arg) c.2405T>G (p.Leu802Arg) c.2474T>G (p.Leu825Arg) c.2459T>G (p.Leu820Arg) c.2438T>G (p.Leu813Arg) c.2432T>G (p.Leu811Arg) c.2387T>G (p.Leu796Arg) c.2378T>G (p.Leu793Arg) c.2354T>G (p.Leu785Arg) c.2348T>G (p.Leu783Arg) c.2321T>G (p.Leu774Arg) c.2315T>G (p.Leu772Arg) c.2309T>G (p.Leu770Arg) c.2258T>G (p.Leu753Arg) c.2177T>G (p.Leu726Arg) c.2308-274T>G (n.2308-274T>G) c.2099T>G (p.Leu700Arg) c.2208+1115T>G (n.2208+1115T>G) c.1319T>G (p.Leu440Arg) n.2595T>G | |
17 | g.39724775_39724776delinsTG | CA2259228002 | ERBB2 | c.2357_2358delinsTG (p.Leu786=) c.2267_2268delinsTG (p.Leu756=) c.1529_1530delinsTG (p.Leu510=) c.2312_2313delinsTG (p.Leu771=) c.*2147_*2148delinsTG (n.*2147_*2148delinsTG) c.463_464delinsTG n.3491_3492delinsTG n.2681_2682delinsTG c.2495_2496delinsTG (p.Leu832=) c.2450_2451delinsTG (p.Leu817=) c.2405_2406delinsTG (p.Leu802=) c.2474_2475delinsTG (p.Leu825=) c.2459_2460delinsTG (p.Leu820=) c.2438_2439delinsTG (p.Leu813=) c.2432_2433delinsTG (p.Leu811=) c.2387_2388delinsTG (p.Leu796=) c.2378_2379delinsTG (p.Leu793=) c.2354_2355delinsTG (p.Leu785=) c.2348_2349delinsTG (p.Leu783=) c.2321_2322delinsTG (p.Leu774=) c.2315_2316delinsTG (p.Leu772=) c.2309_2310delinsTG (p.Leu770=) c.2258_2259delinsTG (p.Leu753=) c.2177_2178delinsTG (p.Leu726=) c.2308-274_2308-273delinsTG (n.2308-274_2308-273delinsTG) c.2099_2100delinsTG (p.Leu700=) c.2208+1115_2208+1116delinsTG (n.2208+1115_2208+1116delinsTG) c.1319_1320delinsTG (p.Leu440=) n.2595_2596delinsTG | |
17 | g.39724776G>A | CA499670865 | ERBB2 | c.2358G>A (p.Leu786=) c.2268G>A (p.Leu756=) c.1530G>A (p.Leu510=) c.2313G>A (p.Leu771=) c.*2148G>A (n.*2148G>A) c.464G>A n.3492G>A n.2682G>A c.2496G>A (p.Leu832=) c.2451G>A (p.Leu817=) c.2406G>A (p.Leu802=) c.2475G>A (p.Leu825=) c.2460G>A (p.Leu820=) c.2439G>A (p.Leu813=) c.2433G>A (p.Leu811=) c.2388G>A (p.Leu796=) c.2379G>A (p.Leu793=) c.2355G>A (p.Leu785=) c.2349G>A (p.Leu783=) c.2322G>A (p.Leu774=) c.2316G>A (p.Leu772=) c.2310G>A (p.Leu770=) c.2259G>A (p.Leu753=) c.2178G>A (p.Leu726=) c.2308-273G>A (n.2308-273G>A) c.2100G>A (p.Leu700=) c.2208+1116G>A (n.2208+1116G>A) c.1320G>A (p.Leu440=) n.2596G>A | dbSNP |
17 | g.39724776G>C | CA499670866 | ERBB2 | c.2358G>C (p.Leu786=) c.2268G>C (p.Leu756=) c.1530G>C (p.Leu510=) c.2313G>C (p.Leu771=) c.*2148G>C (n.*2148G>C) c.464G>C n.3492G>C n.2682G>C c.2496G>C (p.Leu832=) c.2451G>C (p.Leu817=) c.2406G>C (p.Leu802=) c.2475G>C (p.Leu825=) c.2460G>C (p.Leu820=) c.2439G>C (p.Leu813=) c.2433G>C (p.Leu811=) c.2388G>C (p.Leu796=) c.2379G>C (p.Leu793=) c.2355G>C (p.Leu785=) c.2349G>C (p.Leu783=) c.2322G>C (p.Leu774=) c.2316G>C (p.Leu772=) c.2310G>C (p.Leu770=) c.2259G>C (p.Leu753=) c.2178G>C (p.Leu726=) c.2308-273G>C (n.2308-273G>C) c.2100G>C (p.Leu700=) c.2208+1116G>C (n.2208+1116G>C) c.1320G>C (p.Leu440=) n.2596G>C | dbSNP |
17 | g.39724776G>T | CA499670867 | ERBB2 | c.2358G>T (p.Leu786=) c.2268G>T (p.Leu756=) c.1530G>T (p.Leu510=) c.2313G>T (p.Leu771=) c.*2148G>T (n.*2148G>T) c.464G>T n.3492G>T n.2682G>T c.2496G>T (p.Leu832=) c.2451G>T (p.Leu817=) c.2406G>T (p.Leu802=) c.2475G>T (p.Leu825=) c.2460G>T (p.Leu820=) c.2439G>T (p.Leu813=) c.2433G>T (p.Leu811=) c.2388G>T (p.Leu796=) c.2379G>T (p.Leu793=) c.2355G>T (p.Leu785=) c.2349G>T (p.Leu783=) c.2322G>T (p.Leu774=) c.2316G>T (p.Leu772=) c.2310G>T (p.Leu770=) c.2259G>T (p.Leu753=) c.2178G>T (p.Leu726=) c.2308-273G>T (n.2308-273G>T) c.2100G>T (p.Leu700=) c.2208+1116G>T (n.2208+1116G>T) c.1320G>T (p.Leu440=) n.2596G>T | dbSNP |
17 | g.39724778del | CA983631270 | ERBB2 | c.2360del (p.Gly787AlafsTer4) c.2270del (p.Gly757AlafsTer4) c.1532del (p.Gly511AlafsTer4) c.2315del (p.Gly772AlafsTer4) c.*2150del (n.*2150del) c.466del n.3494del n.2684del c.2498del (p.Gly833AlafsTer4) c.2453del (p.Gly818AlafsTer4) c.2408del (p.Gly803AlafsTer4) c.2477del (p.Gly826AlafsTer4) c.2462del (p.Gly821AlafsTer4) c.2441del (p.Gly814AlafsTer4) c.2435del (p.Gly812AlafsTer4) c.2390del (p.Gly797AlafsTer4) c.2381del (p.Gly794AlafsTer4) c.2357del (p.Gly786AlafsTer4) c.2351del (p.Gly784AlafsTer4) c.2324del (p.Gly775AlafsTer4) c.2318del (p.Gly773AlafsTer4) c.2312del (p.Gly771AlafsTer4) c.2261del (p.Gly754AlafsTer4) c.2180del (p.Gly727AlafsTer4) c.2308-271del (n.2308-271del) c.2102del (p.Gly701AlafsTer4) c.2208+1118del (n.2208+1118del) c.1322del (p.Gly441AlafsTer4) n.2598del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724777G>A | CA399303001 | ERBB2 | c.2359G>A (p.Gly787Ser) c.2269G>A (p.Gly757Ser) c.1531G>A (p.Gly511Ser) c.2314G>A (p.Gly772Ser) c.*2149G>A (n.*2149G>A) c.465G>A n.3493G>A n.2683G>A c.2497G>A (p.Gly833Ser) c.2452G>A (p.Gly818Ser) c.2407G>A (p.Gly803Ser) c.2476G>A (p.Gly826Ser) c.2461G>A (p.Gly821Ser) c.2440G>A (p.Gly814Ser) c.2434G>A (p.Gly812Ser) c.2389G>A (p.Gly797Ser) c.2380G>A (p.Gly794Ser) c.2356G>A (p.Gly786Ser) c.2350G>A (p.Gly784Ser) c.2323G>A (p.Gly775Ser) c.2317G>A (p.Gly773Ser) c.2311G>A (p.Gly771Ser) c.2260G>A (p.Gly754Ser) c.2179G>A (p.Gly727Ser) c.2308-272G>A (n.2308-272G>A) c.2101G>A (p.Gly701Ser) c.2208+1117G>A (n.2208+1117G>A) c.1321G>A (p.Gly441Ser) n.2597G>A | dbSNP |
17 | g.39724777G>C | CA399303005 | ERBB2 | c.2359G>C (p.Gly787Arg) c.2269G>C (p.Gly757Arg) c.1531G>C (p.Gly511Arg) c.2314G>C (p.Gly772Arg) c.*2149G>C (n.*2149G>C) c.465G>C n.3493G>C n.2683G>C c.2497G>C (p.Gly833Arg) c.2452G>C (p.Gly818Arg) c.2407G>C (p.Gly803Arg) c.2476G>C (p.Gly826Arg) c.2461G>C (p.Gly821Arg) c.2440G>C (p.Gly814Arg) c.2434G>C (p.Gly812Arg) c.2389G>C (p.Gly797Arg) c.2380G>C (p.Gly794Arg) c.2356G>C (p.Gly786Arg) c.2350G>C (p.Gly784Arg) c.2323G>C (p.Gly775Arg) c.2317G>C (p.Gly773Arg) c.2311G>C (p.Gly771Arg) c.2260G>C (p.Gly754Arg) c.2179G>C (p.Gly727Arg) c.2308-272G>C (n.2308-272G>C) c.2101G>C (p.Gly701Arg) c.2208+1117G>C (n.2208+1117G>C) c.1321G>C (p.Gly441Arg) n.2597G>C | dbSNP |
17 | g.39724777G>T | CA399303004 | ERBB2 | c.2359G>T (p.Gly787Cys) c.2269G>T (p.Gly757Cys) c.1531G>T (p.Gly511Cys) c.2314G>T (p.Gly772Cys) c.*2149G>T (n.*2149G>T) c.465G>T n.3493G>T n.2683G>T c.2497G>T (p.Gly833Cys) c.2452G>T (p.Gly818Cys) c.2407G>T (p.Gly803Cys) c.2476G>T (p.Gly826Cys) c.2461G>T (p.Gly821Cys) c.2440G>T (p.Gly814Cys) c.2434G>T (p.Gly812Cys) c.2389G>T (p.Gly797Cys) c.2380G>T (p.Gly794Cys) c.2356G>T (p.Gly786Cys) c.2350G>T (p.Gly784Cys) c.2323G>T (p.Gly775Cys) c.2317G>T (p.Gly773Cys) c.2311G>T (p.Gly771Cys) c.2260G>T (p.Gly754Cys) c.2179G>T (p.Gly727Cys) c.2308-272G>T (n.2308-272G>T) c.2101G>T (p.Gly701Cys) c.2208+1117G>T (n.2208+1117G>T) c.1321G>T (p.Gly441Cys) n.2597G>T | dbSNP |
17 | g.39724778G>A | CA399303011 | ERBB2 | c.2360G>A (p.Gly787Asp) c.2270G>A (p.Gly757Asp) c.1532G>A (p.Gly511Asp) c.2315G>A (p.Gly772Asp) c.*2150G>A (n.*2150G>A) c.466G>A n.3494G>A n.2684G>A c.2498G>A (p.Gly833Asp) c.2453G>A (p.Gly818Asp) c.2408G>A (p.Gly803Asp) c.2477G>A (p.Gly826Asp) c.2462G>A (p.Gly821Asp) c.2441G>A (p.Gly814Asp) c.2435G>A (p.Gly812Asp) c.2390G>A (p.Gly797Asp) c.2381G>A (p.Gly794Asp) c.2357G>A (p.Gly786Asp) c.2351G>A (p.Gly784Asp) c.2324G>A (p.Gly775Asp) c.2318G>A (p.Gly773Asp) c.2312G>A (p.Gly771Asp) c.2261G>A (p.Gly754Asp) c.2180G>A (p.Gly727Asp) c.2308-271G>A (n.2308-271G>A) c.2102G>A (p.Gly701Asp) c.2208+1118G>A (n.2208+1118G>A) c.1322G>A (p.Gly441Asp) n.2598G>A | dbSNP |
17 | g.39724778G>C | CA399303026 | ERBB2 | c.2360G>C (p.Gly787Ala) c.2270G>C (p.Gly757Ala) c.1532G>C (p.Gly511Ala) c.2315G>C (p.Gly772Ala) c.*2150G>C (n.*2150G>C) c.466G>C n.3494G>C n.2684G>C c.2498G>C (p.Gly833Ala) c.2453G>C (p.Gly818Ala) c.2408G>C (p.Gly803Ala) c.2477G>C (p.Gly826Ala) c.2462G>C (p.Gly821Ala) c.2441G>C (p.Gly814Ala) c.2435G>C (p.Gly812Ala) c.2390G>C (p.Gly797Ala) c.2381G>C (p.Gly794Ala) c.2357G>C (p.Gly786Ala) c.2351G>C (p.Gly784Ala) c.2324G>C (p.Gly775Ala) c.2318G>C (p.Gly773Ala) c.2312G>C (p.Gly771Ala) c.2261G>C (p.Gly754Ala) c.2180G>C (p.Gly727Ala) c.2308-271G>C (n.2308-271G>C) c.2102G>C (p.Gly701Ala) c.2208+1118G>C (n.2208+1118G>C) c.1322G>C (p.Gly441Ala) n.2598G>C | dbSNP |
17 | g.39724778G>T | CA399303013 | ERBB2 | c.2360G>T (p.Gly787Val) c.2270G>T (p.Gly757Val) c.1532G>T (p.Gly511Val) c.2315G>T (p.Gly772Val) c.*2150G>T (n.*2150G>T) c.466G>T n.3494G>T n.2684G>T c.2498G>T (p.Gly833Val) c.2453G>T (p.Gly818Val) c.2408G>T (p.Gly803Val) c.2477G>T (p.Gly826Val) c.2462G>T (p.Gly821Val) c.2441G>T (p.Gly814Val) c.2435G>T (p.Gly812Val) c.2390G>T (p.Gly797Val) c.2381G>T (p.Gly794Val) c.2357G>T (p.Gly786Val) c.2351G>T (p.Gly784Val) c.2324G>T (p.Gly775Val) c.2318G>T (p.Gly773Val) c.2312G>T (p.Gly771Val) c.2261G>T (p.Gly754Val) c.2180G>T (p.Gly727Val) c.2308-271G>T (n.2308-271G>T) c.2102G>T (p.Gly701Val) c.2208+1118G>T (n.2208+1118G>T) c.1322G>T (p.Gly441Val) n.2598G>T | dbSNP gnomAD v4 |
17 | g.39724778_39724779del | CA2637621543 | ERBB2 | c.2360_2361del (p.Gly787AspfsTer?) c.2270_2271del (p.Gly757AspfsTer?) c.1532_1533del (p.Gly511AspfsTer?) c.2315_2316del (p.Gly772AspfsTer?) c.*2150_*2151del (n.*2150_*2151del) c.466_467del n.3494_3495del n.2684_2685del c.2498_2499del (p.Gly833AspfsTer?) c.2453_2454del (p.Gly818AspfsTer?) c.2408_2409del (p.Gly803AspfsTer?) c.2477_2478del (p.Gly826AspfsTer?) c.2462_2463del (p.Gly821AspfsTer?) c.2441_2442del (p.Gly814AspfsTer?) c.2435_2436del (p.Gly812AspfsTer?) c.2390_2391del (p.Gly797AspfsTer?) c.2381_2382del (p.Gly794AspfsTer?) c.2357_2358del (p.Gly786AspfsTer?) c.2351_2352del (p.Gly784AspfsTer?) c.2324_2325del (p.Gly775AspfsTer?) c.2318_2319del (p.Gly773AspfsTer?) c.2312_2313del (p.Gly771AspfsTer?) c.2261_2262del (p.Gly754AspfsTer?) c.2180_2181del (p.Gly727AspfsTer?) c.2308-271_2308-270del (n.2308-271_2308-270del) c.2102_2103del (p.Gly701AspfsTer?) c.2208+1118_2208+1119del (n.2208+1118_2208+1119del) c.1322_1323del (p.Gly441AspfsTer?) n.2598_2599del | gnomAD v4 |
17 | g.39724779C>A | CA499670870 | ERBB2 | c.2361C>A (p.Gly787=) c.2271C>A (p.Gly757=) c.1533C>A (p.Gly511=) c.2316C>A (p.Gly772=) c.*2151C>A (n.*2151C>A) c.467C>A n.3495C>A n.2685C>A c.2499C>A (p.Gly833=) c.2454C>A (p.Gly818=) c.2409C>A (p.Gly803=) c.2478C>A (p.Gly826=) c.2463C>A (p.Gly821=) c.2442C>A (p.Gly814=) c.2436C>A (p.Gly812=) c.2391C>A (p.Gly797=) c.2382C>A (p.Gly794=) c.2358C>A (p.Gly786=) c.2352C>A (p.Gly784=) c.2325C>A (p.Gly775=) c.2319C>A (p.Gly773=) c.2313C>A (p.Gly771=) c.2262C>A (p.Gly754=) c.2181C>A (p.Gly727=) c.2308-270C>A (n.2308-270C>A) c.2103C>A (p.Gly701=) c.2208+1119C>A (n.2208+1119C>A) c.1323C>A (p.Gly441=) n.2599C>A | dbSNP |
17 | g.39724779C= | CA2259228003 | ERBB2 | c.2361C= (p.Gly787=) c.2271C= (p.Gly757=) c.1533C= (p.Gly511=) c.2316C= (p.Gly772=) c.*2151C= (n.*2151C=) c.467C= n.3495C= n.2685C= c.2499C= (p.Gly833=) c.2454C= (p.Gly818=) c.2409C= (p.Gly803=) c.2478C= (p.Gly826=) c.2463C= (p.Gly821=) c.2442C= (p.Gly814=) c.2436C= (p.Gly812=) c.2391C= (p.Gly797=) c.2382C= (p.Gly794=) c.2358C= (p.Gly786=) c.2352C= (p.Gly784=) c.2325C= (p.Gly775=) c.2319C= (p.Gly773=) c.2313C= (p.Gly771=) c.2262C= (p.Gly754=) c.2181C= (p.Gly727=) c.2308-270C= (n.2308-270C=) c.2103C= (p.Gly701=) c.2208+1119C= (n.2208+1119C=) c.1323C= (p.Gly441=) n.2599C= | |
17 | g.39724779C>G | CA499670869 | ERBB2 | c.2361C>G (p.Gly787=) c.2271C>G (p.Gly757=) c.1533C>G (p.Gly511=) c.2316C>G (p.Gly772=) c.*2151C>G (n.*2151C>G) c.467C>G n.3495C>G n.2685C>G c.2499C>G (p.Gly833=) c.2454C>G (p.Gly818=) c.2409C>G (p.Gly803=) c.2478C>G (p.Gly826=) c.2463C>G (p.Gly821=) c.2442C>G (p.Gly814=) c.2436C>G (p.Gly812=) c.2391C>G (p.Gly797=) c.2382C>G (p.Gly794=) c.2358C>G (p.Gly786=) c.2352C>G (p.Gly784=) c.2325C>G (p.Gly775=) c.2319C>G (p.Gly773=) c.2313C>G (p.Gly771=) c.2262C>G (p.Gly754=) c.2181C>G (p.Gly727=) c.2308-270C>G (n.2308-270C>G) c.2103C>G (p.Gly701=) c.2208+1119C>G (n.2208+1119C>G) c.1323C>G (p.Gly441=) n.2599C>G | dbSNP |
17 | g.39724779C>T | CA499670868 | ERBB2 | c.2361C>T (p.Gly787=) c.2271C>T (p.Gly757=) c.1533C>T (p.Gly511=) c.2316C>T (p.Gly772=) c.*2151C>T (n.*2151C>T) c.467C>T n.3495C>T n.2685C>T c.2499C>T (p.Gly833=) c.2454C>T (p.Gly818=) c.2409C>T (p.Gly803=) c.2478C>T (p.Gly826=) c.2463C>T (p.Gly821=) c.2442C>T (p.Gly814=) c.2436C>T (p.Gly812=) c.2391C>T (p.Gly797=) c.2382C>T (p.Gly794=) c.2358C>T (p.Gly786=) c.2352C>T (p.Gly784=) c.2325C>T (p.Gly775=) c.2319C>T (p.Gly773=) c.2313C>T (p.Gly771=) c.2262C>T (p.Gly754=) c.2181C>T (p.Gly727=) c.2308-270C>T (n.2308-270C>T) c.2103C>T (p.Gly701=) c.2208+1119C>T (n.2208+1119C>T) c.1323C>T (p.Gly441=) n.2599C>T | dbSNP gnomAD v2 |
17 | g.39724780A>C | CA399303030 | ERBB2 | c.2362A>C (p.Ile788Leu) c.2272A>C (p.Ile758Leu) c.1534A>C (p.Ile512Leu) c.2317A>C (p.Ile773Leu) c.*2152A>C (n.*2152A>C) c.468A>C n.3496A>C n.2686A>C c.2500A>C (p.Ile834Leu) c.2455A>C (p.Ile819Leu) c.2410A>C (p.Ile804Leu) c.2479A>C (p.Ile827Leu) c.2464A>C (p.Ile822Leu) c.2443A>C (p.Ile815Leu) c.2437A>C (p.Ile813Leu) c.2392A>C (p.Ile798Leu) c.2383A>C (p.Ile795Leu) c.2359A>C (p.Ile787Leu) c.2353A>C (p.Ile785Leu) c.2326A>C (p.Ile776Leu) c.2320A>C (p.Ile774Leu) c.2314A>C (p.Ile772Leu) c.2263A>C (p.Ile755Leu) c.2182A>C (p.Ile728Leu) c.2308-269A>C (n.2308-269A>C) c.2104A>C (p.Ile702Leu) c.2208+1120A>C (n.2208+1120A>C) c.1324A>C (p.Ile442Leu) n.2600A>C | dbSNP |
17 | g.39724780A>G | CA399303037 | ERBB2 | c.2362A>G (p.Ile788Val) c.2272A>G (p.Ile758Val) c.1534A>G (p.Ile512Val) c.2317A>G (p.Ile773Val) c.*2152A>G (n.*2152A>G) c.468A>G n.3496A>G n.2686A>G c.2500A>G (p.Ile834Val) c.2455A>G (p.Ile819Val) c.2410A>G (p.Ile804Val) c.2479A>G (p.Ile827Val) c.2464A>G (p.Ile822Val) c.2443A>G (p.Ile815Val) c.2437A>G (p.Ile813Val) c.2392A>G (p.Ile798Val) c.2383A>G (p.Ile795Val) c.2359A>G (p.Ile787Val) c.2353A>G (p.Ile785Val) c.2326A>G (p.Ile776Val) c.2320A>G (p.Ile774Val) c.2314A>G (p.Ile772Val) c.2263A>G (p.Ile755Val) c.2182A>G (p.Ile728Val) c.2308-269A>G (n.2308-269A>G) c.2104A>G (p.Ile702Val) c.2208+1120A>G (n.2208+1120A>G) c.1324A>G (p.Ile442Val) n.2600A>G | dbSNP |
17 | g.39724780A>T | CA399303033 | ERBB2 | c.2362A>T (p.Ile788Phe) c.2272A>T (p.Ile758Phe) c.1534A>T (p.Ile512Phe) c.2317A>T (p.Ile773Phe) c.*2152A>T (n.*2152A>T) c.468A>T n.3496A>T n.2686A>T c.2500A>T (p.Ile834Phe) c.2455A>T (p.Ile819Phe) c.2410A>T (p.Ile804Phe) c.2479A>T (p.Ile827Phe) c.2464A>T (p.Ile822Phe) c.2443A>T (p.Ile815Phe) c.2437A>T (p.Ile813Phe) c.2392A>T (p.Ile798Phe) c.2383A>T (p.Ile795Phe) c.2359A>T (p.Ile787Phe) c.2353A>T (p.Ile785Phe) c.2326A>T (p.Ile776Phe) c.2320A>T (p.Ile774Phe) c.2314A>T (p.Ile772Phe) c.2263A>T (p.Ile755Phe) c.2182A>T (p.Ile728Phe) c.2308-269A>T (n.2308-269A>T) c.2104A>T (p.Ile702Phe) c.2208+1120A>T (n.2208+1120A>T) c.1324A>T (p.Ile442Phe) n.2600A>T | dbSNP |
17 | g.39724781T>A | CA399303038 | ERBB2 | c.2363T>A (p.Ile788Asn) c.2273T>A (p.Ile758Asn) c.1535T>A (p.Ile512Asn) c.2318T>A (p.Ile773Asn) c.*2153T>A (n.*2153T>A) c.469T>A n.3497T>A n.2687T>A c.2501T>A (p.Ile834Asn) c.2456T>A (p.Ile819Asn) c.2411T>A (p.Ile804Asn) c.2480T>A (p.Ile827Asn) c.2465T>A (p.Ile822Asn) c.2444T>A (p.Ile815Asn) c.2438T>A (p.Ile813Asn) c.2393T>A (p.Ile798Asn) c.2384T>A (p.Ile795Asn) c.2360T>A (p.Ile787Asn) c.2354T>A (p.Ile785Asn) c.2327T>A (p.Ile776Asn) c.2321T>A (p.Ile774Asn) c.2315T>A (p.Ile772Asn) c.2264T>A (p.Ile755Asn) c.2183T>A (p.Ile728Asn) c.2308-268T>A (n.2308-268T>A) c.2105T>A (p.Ile702Asn) c.2208+1121T>A (n.2208+1121T>A) c.1325T>A (p.Ile442Asn) n.2601T>A | dbSNP |
17 | g.39724781T>C | CA399303043 | ERBB2 | c.2363T>C (p.Ile788Thr) c.2273T>C (p.Ile758Thr) c.1535T>C (p.Ile512Thr) c.2318T>C (p.Ile773Thr) c.*2153T>C (n.*2153T>C) c.469T>C n.3497T>C n.2687T>C c.2501T>C (p.Ile834Thr) c.2456T>C (p.Ile819Thr) c.2411T>C (p.Ile804Thr) c.2480T>C (p.Ile827Thr) c.2465T>C (p.Ile822Thr) c.2444T>C (p.Ile815Thr) c.2438T>C (p.Ile813Thr) c.2393T>C (p.Ile798Thr) c.2384T>C (p.Ile795Thr) c.2360T>C (p.Ile787Thr) c.2354T>C (p.Ile785Thr) c.2327T>C (p.Ile776Thr) c.2321T>C (p.Ile774Thr) c.2315T>C (p.Ile772Thr) c.2264T>C (p.Ile755Thr) c.2183T>C (p.Ile728Thr) c.2308-268T>C (n.2308-268T>C) c.2105T>C (p.Ile702Thr) c.2208+1121T>C (n.2208+1121T>C) c.1325T>C (p.Ile442Thr) n.2601T>C | dbSNP |
17 | g.39724781T>G | CA399303039 | ERBB2 | c.2363T>G (p.Ile788Ser) c.2273T>G (p.Ile758Ser) c.1535T>G (p.Ile512Ser) c.2318T>G (p.Ile773Ser) c.*2153T>G (n.*2153T>G) c.469T>G n.3497T>G n.2687T>G c.2501T>G (p.Ile834Ser) c.2456T>G (p.Ile819Ser) c.2411T>G (p.Ile804Ser) c.2480T>G (p.Ile827Ser) c.2465T>G (p.Ile822Ser) c.2444T>G (p.Ile815Ser) c.2438T>G (p.Ile813Ser) c.2393T>G (p.Ile798Ser) c.2384T>G (p.Ile795Ser) c.2360T>G (p.Ile787Ser) c.2354T>G (p.Ile785Ser) c.2327T>G (p.Ile776Ser) c.2321T>G (p.Ile774Ser) c.2315T>G (p.Ile772Ser) c.2264T>G (p.Ile755Ser) c.2183T>G (p.Ile728Ser) c.2308-268T>G (n.2308-268T>G) c.2105T>G (p.Ile702Ser) c.2208+1121T>G (n.2208+1121T>G) c.1325T>G (p.Ile442Ser) n.2601T>G | |
17 | g.39724782C>A | CA499670871 | ERBB2 | c.2364C>A (p.Ile788=) c.2274C>A (p.Ile758=) c.1536C>A (p.Ile512=) c.2319C>A (p.Ile773=) c.*2154C>A (n.*2154C>A) c.470C>A n.3498C>A n.2688C>A c.2502C>A (p.Ile834=) c.2457C>A (p.Ile819=) c.2412C>A (p.Ile804=) c.2481C>A (p.Ile827=) c.2466C>A (p.Ile822=) c.2445C>A (p.Ile815=) c.2439C>A (p.Ile813=) c.2394C>A (p.Ile798=) c.2385C>A (p.Ile795=) c.2361C>A (p.Ile787=) c.2355C>A (p.Ile785=) c.2328C>A (p.Ile776=) c.2322C>A (p.Ile774=) c.2316C>A (p.Ile772=) c.2265C>A (p.Ile755=) c.2184C>A (p.Ile728=) c.2308-267C>A (n.2308-267C>A) c.2106C>A (p.Ile702=) c.2208+1122C>A (n.2208+1122C>A) c.1326C>A (p.Ile442=) n.2602C>A | |
17 | g.39724782C>G | CA399303047 | ERBB2 | c.2364C>G (p.Ile788Met) c.2274C>G (p.Ile758Met) c.1536C>G (p.Ile512Met) c.2319C>G (p.Ile773Met) c.*2154C>G (n.*2154C>G) c.470C>G n.3498C>G n.2688C>G c.2502C>G (p.Ile834Met) c.2457C>G (p.Ile819Met) c.2412C>G (p.Ile804Met) c.2481C>G (p.Ile827Met) c.2466C>G (p.Ile822Met) c.2445C>G (p.Ile815Met) c.2439C>G (p.Ile813Met) c.2394C>G (p.Ile798Met) c.2385C>G (p.Ile795Met) c.2361C>G (p.Ile787Met) c.2355C>G (p.Ile785Met) c.2328C>G (p.Ile776Met) c.2322C>G (p.Ile774Met) c.2316C>G (p.Ile772Met) c.2265C>G (p.Ile755Met) c.2184C>G (p.Ile728Met) c.2308-267C>G (n.2308-267C>G) c.2106C>G (p.Ile702Met) c.2208+1122C>G (n.2208+1122C>G) c.1326C>G (p.Ile442Met) n.2602C>G | |
17 | g.39724782C>T | CA499670872 | ERBB2 | c.2364C>T (p.Ile788=) c.2274C>T (p.Ile758=) c.1536C>T (p.Ile512=) c.2319C>T (p.Ile773=) c.*2154C>T (n.*2154C>T) c.470C>T n.3498C>T n.2688C>T c.2502C>T (p.Ile834=) c.2457C>T (p.Ile819=) c.2412C>T (p.Ile804=) c.2481C>T (p.Ile827=) c.2466C>T (p.Ile822=) c.2445C>T (p.Ile815=) c.2439C>T (p.Ile813=) c.2394C>T (p.Ile798=) c.2385C>T (p.Ile795=) c.2361C>T (p.Ile787=) c.2355C>T (p.Ile785=) c.2328C>T (p.Ile776=) c.2322C>T (p.Ile774=) c.2316C>T (p.Ile772=) c.2265C>T (p.Ile755=) c.2184C>T (p.Ile728=) c.2308-267C>T (n.2308-267C>T) c.2106C>T (p.Ile702=) c.2208+1122C>T (n.2208+1122C>T) c.1326C>T (p.Ile442=) n.2602C>T | dbSNP gnomAD v4 |
17 | g.39724783T>A | CA399303052 | ERBB2 | c.2365T>A (p.Cys789Ser) c.2275T>A (p.Cys759Ser) c.1537T>A (p.Cys513Ser) c.2320T>A (p.Cys774Ser) c.*2155T>A (n.*2155T>A) c.471T>A n.3499T>A n.2689T>A c.2503T>A (p.Cys835Ser) c.2458T>A (p.Cys820Ser) c.2413T>A (p.Cys805Ser) c.2482T>A (p.Cys828Ser) c.2467T>A (p.Cys823Ser) c.2446T>A (p.Cys816Ser) c.2440T>A (p.Cys814Ser) c.2395T>A (p.Cys799Ser) c.2386T>A (p.Cys796Ser) c.2362T>A (p.Cys788Ser) c.2356T>A (p.Cys786Ser) c.2329T>A (p.Cys777Ser) c.2323T>A (p.Cys775Ser) c.2317T>A (p.Cys773Ser) c.2266T>A (p.Cys756Ser) c.2185T>A (p.Cys729Ser) c.2308-266T>A (n.2308-266T>A) c.2107T>A (p.Cys703Ser) c.2208+1123T>A (n.2208+1123T>A) c.1327T>A (p.Cys443Ser) n.2603T>A | dbSNP |
17 | g.39724783T>C | CA399303053 | ERBB2 | c.2365T>C (p.Cys789Arg) c.2275T>C (p.Cys759Arg) c.1537T>C (p.Cys513Arg) c.2320T>C (p.Cys774Arg) c.*2155T>C (n.*2155T>C) c.471T>C n.3499T>C n.2689T>C c.2503T>C (p.Cys835Arg) c.2458T>C (p.Cys820Arg) c.2413T>C (p.Cys805Arg) c.2482T>C (p.Cys828Arg) c.2467T>C (p.Cys823Arg) c.2446T>C (p.Cys816Arg) c.2440T>C (p.Cys814Arg) c.2395T>C (p.Cys799Arg) c.2386T>C (p.Cys796Arg) c.2362T>C (p.Cys788Arg) c.2356T>C (p.Cys786Arg) c.2329T>C (p.Cys777Arg) c.2323T>C (p.Cys775Arg) c.2317T>C (p.Cys773Arg) c.2266T>C (p.Cys756Arg) c.2185T>C (p.Cys729Arg) c.2308-266T>C (n.2308-266T>C) c.2107T>C (p.Cys703Arg) c.2208+1123T>C (n.2208+1123T>C) c.1327T>C (p.Cys443Arg) n.2603T>C | dbSNP |
17 | g.39724783T>G | CA399303055 | ERBB2 | c.2365T>G (p.Cys789Gly) c.2275T>G (p.Cys759Gly) c.1537T>G (p.Cys513Gly) c.2320T>G (p.Cys774Gly) c.*2155T>G (n.*2155T>G) c.471T>G n.3499T>G n.2689T>G c.2503T>G (p.Cys835Gly) c.2458T>G (p.Cys820Gly) c.2413T>G (p.Cys805Gly) c.2482T>G (p.Cys828Gly) c.2467T>G (p.Cys823Gly) c.2446T>G (p.Cys816Gly) c.2440T>G (p.Cys814Gly) c.2395T>G (p.Cys799Gly) c.2386T>G (p.Cys796Gly) c.2362T>G (p.Cys788Gly) c.2356T>G (p.Cys786Gly) c.2329T>G (p.Cys777Gly) c.2323T>G (p.Cys775Gly) c.2317T>G (p.Cys773Gly) c.2266T>G (p.Cys756Gly) c.2185T>G (p.Cys729Gly) c.2308-266T>G (n.2308-266T>G) c.2107T>G (p.Cys703Gly) c.2208+1123T>G (n.2208+1123T>G) c.1327T>G (p.Cys443Gly) n.2603T>G | |
17 | g.39724784G>A | CA399303059 | ERBB2 | c.2366G>A (p.Cys789Tyr) c.2276G>A (p.Cys759Tyr) c.1538G>A (p.Cys513Tyr) c.2321G>A (p.Cys774Tyr) c.*2156G>A (n.*2156G>A) c.472G>A n.3500G>A n.2690G>A c.2504G>A (p.Cys835Tyr) c.2459G>A (p.Cys820Tyr) c.2414G>A (p.Cys805Tyr) c.2483G>A (p.Cys828Tyr) c.2468G>A (p.Cys823Tyr) c.2447G>A (p.Cys816Tyr) c.2441G>A (p.Cys814Tyr) c.2396G>A (p.Cys799Tyr) c.2387G>A (p.Cys796Tyr) c.2363G>A (p.Cys788Tyr) c.2357G>A (p.Cys786Tyr) c.2330G>A (p.Cys777Tyr) c.2324G>A (p.Cys775Tyr) c.2318G>A (p.Cys773Tyr) c.2267G>A (p.Cys756Tyr) c.2186G>A (p.Cys729Tyr) c.2308-265G>A (n.2308-265G>A) c.2108G>A (p.Cys703Tyr) c.2208+1124G>A (n.2208+1124G>A) c.1328G>A (p.Cys443Tyr) n.2604G>A | COSMIC COSMIC |
17 | g.39724784G>C | CA399303062 | ERBB2 | c.2366G>C (p.Cys789Ser) c.2276G>C (p.Cys759Ser) c.1538G>C (p.Cys513Ser) c.2321G>C (p.Cys774Ser) c.*2156G>C (n.*2156G>C) c.472G>C n.3500G>C n.2690G>C c.2504G>C (p.Cys835Ser) c.2459G>C (p.Cys820Ser) c.2414G>C (p.Cys805Ser) c.2483G>C (p.Cys828Ser) c.2468G>C (p.Cys823Ser) c.2447G>C (p.Cys816Ser) c.2441G>C (p.Cys814Ser) c.2396G>C (p.Cys799Ser) c.2387G>C (p.Cys796Ser) c.2363G>C (p.Cys788Ser) c.2357G>C (p.Cys786Ser) c.2330G>C (p.Cys777Ser) c.2324G>C (p.Cys775Ser) c.2318G>C (p.Cys773Ser) c.2267G>C (p.Cys756Ser) c.2186G>C (p.Cys729Ser) c.2308-265G>C (n.2308-265G>C) c.2108G>C (p.Cys703Ser) c.2208+1124G>C (n.2208+1124G>C) c.1328G>C (p.Cys443Ser) n.2604G>C | |
17 | g.39724784G>T | CA399303063 | ERBB2 | c.2366G>T (p.Cys789Phe) c.2276G>T (p.Cys759Phe) c.1538G>T (p.Cys513Phe) c.2321G>T (p.Cys774Phe) c.*2156G>T (n.*2156G>T) c.472G>T n.3500G>T n.2690G>T c.2504G>T (p.Cys835Phe) c.2459G>T (p.Cys820Phe) c.2414G>T (p.Cys805Phe) c.2483G>T (p.Cys828Phe) c.2468G>T (p.Cys823Phe) c.2447G>T (p.Cys816Phe) c.2441G>T (p.Cys814Phe) c.2396G>T (p.Cys799Phe) c.2387G>T (p.Cys796Phe) c.2363G>T (p.Cys788Phe) c.2357G>T (p.Cys786Phe) c.2330G>T (p.Cys777Phe) c.2324G>T (p.Cys775Phe) c.2318G>T (p.Cys773Phe) c.2267G>T (p.Cys756Phe) c.2186G>T (p.Cys729Phe) c.2308-265G>T (n.2308-265G>T) c.2108G>T (p.Cys703Phe) c.2208+1124G>T (n.2208+1124G>T) c.1328G>T (p.Cys443Phe) n.2604G>T | |
17 | g.39724785C>A | CA399303068 | ERBB2 | c.2367C>A (p.Cys789Ter) c.2277C>A (p.Cys759Ter) c.1539C>A (p.Cys513Ter) c.2322C>A (p.Cys774Ter) c.*2157C>A (n.*2157C>A) c.473C>A n.3501C>A n.2691C>A c.2505C>A (p.Cys835Ter) c.2460C>A (p.Cys820Ter) c.2415C>A (p.Cys805Ter) c.2484C>A (p.Cys828Ter) c.2469C>A (p.Cys823Ter) c.2448C>A (p.Cys816Ter) c.2442C>A (p.Cys814Ter) c.2397C>A (p.Cys799Ter) c.2388C>A (p.Cys796Ter) c.2364C>A (p.Cys788Ter) c.2358C>A (p.Cys786Ter) c.2331C>A (p.Cys777Ter) c.2325C>A (p.Cys775Ter) c.2319C>A (p.Cys773Ter) c.2268C>A (p.Cys756Ter) c.2187C>A (p.Cys729Ter) c.2308-264C>A (n.2308-264C>A) c.2109C>A (p.Cys703Ter) c.2208+1125C>A (n.2208+1125C>A) c.1329C>A (p.Cys443Ter) n.2605C>A | dbSNP |
17 | g.39724785C= | CA2259228004 | ERBB2 | c.2367C= (p.Cys789=) c.2277C= (p.Cys759=) c.1539C= (p.Cys513=) c.2322C= (p.Cys774=) c.*2157C= (n.*2157C=) c.473C= n.3501C= n.2691C= c.2505C= (p.Cys835=) c.2460C= (p.Cys820=) c.2415C= (p.Cys805=) c.2484C= (p.Cys828=) c.2469C= (p.Cys823=) c.2448C= (p.Cys816=) c.2442C= (p.Cys814=) c.2397C= (p.Cys799=) c.2388C= (p.Cys796=) c.2364C= (p.Cys788=) c.2358C= (p.Cys786=) c.2331C= (p.Cys777=) c.2325C= (p.Cys775=) c.2319C= (p.Cys773=) c.2268C= (p.Cys756=) c.2187C= (p.Cys729=) c.2308-264C= (n.2308-264C=) c.2109C= (p.Cys703=) c.2208+1125C= (n.2208+1125C=) c.1329C= (p.Cys443=) n.2605C= | |
17 | g.39724785C>G | CA399303070 | ERBB2 | c.2367C>G (p.Cys789Trp) c.2277C>G (p.Cys759Trp) c.1539C>G (p.Cys513Trp) c.2322C>G (p.Cys774Trp) c.*2157C>G (n.*2157C>G) c.473C>G n.3501C>G n.2691C>G c.2505C>G (p.Cys835Trp) c.2460C>G (p.Cys820Trp) c.2415C>G (p.Cys805Trp) c.2484C>G (p.Cys828Trp) c.2469C>G (p.Cys823Trp) c.2448C>G (p.Cys816Trp) c.2442C>G (p.Cys814Trp) c.2397C>G (p.Cys799Trp) c.2388C>G (p.Cys796Trp) c.2364C>G (p.Cys788Trp) c.2358C>G (p.Cys786Trp) c.2331C>G (p.Cys777Trp) c.2325C>G (p.Cys775Trp) c.2319C>G (p.Cys773Trp) c.2268C>G (p.Cys756Trp) c.2187C>G (p.Cys729Trp) c.2308-264C>G (n.2308-264C>G) c.2109C>G (p.Cys703Trp) c.2208+1125C>G (n.2208+1125C>G) c.1329C>G (p.Cys443Trp) n.2605C>G | dbSNP |
17 | g.39724785C>T | CA499670873 | ERBB2 | c.2367C>T (p.Cys789=) c.2277C>T (p.Cys759=) c.1539C>T (p.Cys513=) c.2322C>T (p.Cys774=) c.*2157C>T (n.*2157C>T) c.473C>T n.3501C>T n.2691C>T c.2505C>T (p.Cys835=) c.2460C>T (p.Cys820=) c.2415C>T (p.Cys805=) c.2484C>T (p.Cys828=) c.2469C>T (p.Cys823=) c.2448C>T (p.Cys816=) c.2442C>T (p.Cys814=) c.2397C>T (p.Cys799=) c.2388C>T (p.Cys796=) c.2364C>T (p.Cys788=) c.2358C>T (p.Cys786=) c.2331C>T (p.Cys777=) c.2325C>T (p.Cys775=) c.2319C>T (p.Cys773=) c.2268C>T (p.Cys756=) c.2187C>T (p.Cys729=) c.2308-264C>T (n.2308-264C>T) c.2109C>T (p.Cys703=) c.2208+1125C>T (n.2208+1125C>T) c.1329C>T (p.Cys443=) n.2605C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724786C>A | CA399303074 | ERBB2 | c.2368C>A (p.Leu790Met) c.2278C>A (p.Leu760Met) c.1540C>A (p.Leu514Met) c.2323C>A (p.Leu775Met) c.*2158C>A (n.*2158C>A) c.474C>A n.3502C>A n.2692C>A c.2506C>A (p.Leu836Met) c.2461C>A (p.Leu821Met) c.2416C>A (p.Leu806Met) c.2485C>A (p.Leu829Met) c.2470C>A (p.Leu824Met) c.2449C>A (p.Leu817Met) c.2443C>A (p.Leu815Met) c.2398C>A (p.Leu800Met) c.2389C>A (p.Leu797Met) c.2365C>A (p.Leu789Met) c.2359C>A (p.Leu787Met) c.2332C>A (p.Leu778Met) c.2326C>A (p.Leu776Met) c.2320C>A (p.Leu774Met) c.2269C>A (p.Leu757Met) c.2188C>A (p.Leu730Met) c.2308-263C>A (n.2308-263C>A) c.2110C>A (p.Leu704Met) c.2208+1126C>A (n.2208+1126C>A) c.1330C>A (p.Leu444Met) n.2606C>A | dbSNP |
17 | g.39724786C= | CA2259228005 | ERBB2 | c.2368C= (p.Leu790=) c.2278C= (p.Leu760=) c.1540C= (p.Leu514=) c.2323C= (p.Leu775=) c.*2158C= (n.*2158C=) c.474C= n.3502C= n.2692C= c.2506C= (p.Leu836=) c.2461C= (p.Leu821=) c.2416C= (p.Leu806=) c.2485C= (p.Leu829=) c.2470C= (p.Leu824=) c.2449C= (p.Leu817=) c.2443C= (p.Leu815=) c.2398C= (p.Leu800=) c.2389C= (p.Leu797=) c.2365C= (p.Leu789=) c.2359C= (p.Leu787=) c.2332C= (p.Leu778=) c.2326C= (p.Leu776=) c.2320C= (p.Leu774=) c.2269C= (p.Leu757=) c.2188C= (p.Leu730=) c.2308-263C= (n.2308-263C=) c.2110C= (p.Leu704=) c.2208+1126C= (n.2208+1126C=) c.1330C= (p.Leu444=) n.2606C= | |
17 | g.39724786C>G | CA399303076 | ERBB2 | c.2368C>G (p.Leu790Val) c.2278C>G (p.Leu760Val) c.1540C>G (p.Leu514Val) c.2323C>G (p.Leu775Val) c.*2158C>G (n.*2158C>G) c.474C>G n.3502C>G n.2692C>G c.2506C>G (p.Leu836Val) c.2461C>G (p.Leu821Val) c.2416C>G (p.Leu806Val) c.2485C>G (p.Leu829Val) c.2470C>G (p.Leu824Val) c.2449C>G (p.Leu817Val) c.2443C>G (p.Leu815Val) c.2398C>G (p.Leu800Val) c.2389C>G (p.Leu797Val) c.2365C>G (p.Leu789Val) c.2359C>G (p.Leu787Val) c.2332C>G (p.Leu778Val) c.2326C>G (p.Leu776Val) c.2320C>G (p.Leu774Val) c.2269C>G (p.Leu757Val) c.2188C>G (p.Leu730Val) c.2308-263C>G (n.2308-263C>G) c.2110C>G (p.Leu704Val) c.2208+1126C>G (n.2208+1126C>G) c.1330C>G (p.Leu444Val) n.2606C>G | dbSNP |
17 | g.39724786C>T | CA8534287 | ERBB2 | c.2368C>T (p.Leu790=) c.2278C>T (p.Leu760=) c.1540C>T (p.Leu514=) c.2323C>T (p.Leu775=) c.*2158C>T (n.*2158C>T) c.474C>T n.3502C>T n.2692C>T c.2506C>T (p.Leu836=) c.2461C>T (p.Leu821=) c.2416C>T (p.Leu806=) c.2485C>T (p.Leu829=) c.2470C>T (p.Leu824=) c.2449C>T (p.Leu817=) c.2443C>T (p.Leu815=) c.2398C>T (p.Leu800=) c.2389C>T (p.Leu797=) c.2365C>T (p.Leu789=) c.2359C>T (p.Leu787=) c.2332C>T (p.Leu778=) c.2326C>T (p.Leu776=) c.2320C>T (p.Leu774=) c.2269C>T (p.Leu757=) c.2188C>T (p.Leu730=) c.2308-263C>T (n.2308-263C>T) c.2110C>T (p.Leu704=) c.2208+1126C>T (n.2208+1126C>T) c.1330C>T (p.Leu444=) n.2606C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39724787T>A | CA399303082 | ERBB2 | c.2369T>A (p.Leu790Gln) c.2279T>A (p.Leu760Gln) c.1541T>A (p.Leu514Gln) c.2324T>A (p.Leu775Gln) c.*2159T>A (n.*2159T>A) c.475T>A n.3503T>A n.2693T>A c.2507T>A (p.Leu836Gln) c.2462T>A (p.Leu821Gln) c.2417T>A (p.Leu806Gln) c.2486T>A (p.Leu829Gln) c.2471T>A (p.Leu824Gln) c.2450T>A (p.Leu817Gln) c.2444T>A (p.Leu815Gln) c.2399T>A (p.Leu800Gln) c.2390T>A (p.Leu797Gln) c.2366T>A (p.Leu789Gln) c.2360T>A (p.Leu787Gln) c.2333T>A (p.Leu778Gln) c.2327T>A (p.Leu776Gln) c.2321T>A (p.Leu774Gln) c.2270T>A (p.Leu757Gln) c.2189T>A (p.Leu730Gln) c.2308-262T>A (n.2308-262T>A) c.2111T>A (p.Leu704Gln) c.2208+1127T>A (n.2208+1127T>A) c.1331T>A (p.Leu444Gln) n.2607T>A | dbSNP |
17 | g.39724787T>C | CA399303086 | ERBB2 | c.2369T>C (p.Leu790Pro) c.2279T>C (p.Leu760Pro) c.1541T>C (p.Leu514Pro) c.2324T>C (p.Leu775Pro) c.*2159T>C (n.*2159T>C) c.475T>C n.3503T>C n.2693T>C c.2507T>C (p.Leu836Pro) c.2462T>C (p.Leu821Pro) c.2417T>C (p.Leu806Pro) c.2486T>C (p.Leu829Pro) c.2471T>C (p.Leu824Pro) c.2450T>C (p.Leu817Pro) c.2444T>C (p.Leu815Pro) c.2399T>C (p.Leu800Pro) c.2390T>C (p.Leu797Pro) c.2366T>C (p.Leu789Pro) c.2360T>C (p.Leu787Pro) c.2333T>C (p.Leu778Pro) c.2327T>C (p.Leu776Pro) c.2321T>C (p.Leu774Pro) c.2270T>C (p.Leu757Pro) c.2189T>C (p.Leu730Pro) c.2308-262T>C (n.2308-262T>C) c.2111T>C (p.Leu704Pro) c.2208+1127T>C (n.2208+1127T>C) c.1331T>C (p.Leu444Pro) n.2607T>C | dbSNP |
17 | g.39724787T>G | CA399303083 | ERBB2 | c.2369T>G (p.Leu790Arg) c.2279T>G (p.Leu760Arg) c.1541T>G (p.Leu514Arg) c.2324T>G (p.Leu775Arg) c.*2159T>G (n.*2159T>G) c.475T>G n.3503T>G n.2693T>G c.2507T>G (p.Leu836Arg) c.2462T>G (p.Leu821Arg) c.2417T>G (p.Leu806Arg) c.2486T>G (p.Leu829Arg) c.2471T>G (p.Leu824Arg) c.2450T>G (p.Leu817Arg) c.2444T>G (p.Leu815Arg) c.2399T>G (p.Leu800Arg) c.2390T>G (p.Leu797Arg) c.2366T>G (p.Leu789Arg) c.2360T>G (p.Leu787Arg) c.2333T>G (p.Leu778Arg) c.2327T>G (p.Leu776Arg) c.2321T>G (p.Leu774Arg) c.2270T>G (p.Leu757Arg) c.2189T>G (p.Leu730Arg) c.2308-262T>G (n.2308-262T>G) c.2111T>G (p.Leu704Arg) c.2208+1127T>G (n.2208+1127T>G) c.1331T>G (p.Leu444Arg) n.2607T>G | |
17 | g.39724788G>A | CA499670876 | ERBB2 | c.2370G>A (p.Leu790=) c.2280G>A (p.Leu760=) c.1542G>A (p.Leu514=) c.2325G>A (p.Leu775=) c.*2160G>A (n.*2160G>A) c.476G>A n.3504G>A n.2694G>A c.2508G>A (p.Leu836=) c.2463G>A (p.Leu821=) c.2418G>A (p.Leu806=) c.2487G>A (p.Leu829=) c.2472G>A (p.Leu824=) c.2451G>A (p.Leu817=) c.2445G>A (p.Leu815=) c.2400G>A (p.Leu800=) c.2391G>A (p.Leu797=) c.2367G>A (p.Leu789=) c.2361G>A (p.Leu787=) c.2334G>A (p.Leu778=) c.2328G>A (p.Leu776=) c.2322G>A (p.Leu774=) c.2271G>A (p.Leu757=) c.2190G>A (p.Leu730=) c.2308-261G>A (n.2308-261G>A) c.2112G>A (p.Leu704=) c.2208+1128G>A (n.2208+1128G>A) c.1332G>A (p.Leu444=) n.2608G>A | dbSNP |
17 | g.39724788G>C | CA499670875 | ERBB2 | c.2370G>C (p.Leu790=) c.2280G>C (p.Leu760=) c.1542G>C (p.Leu514=) c.2325G>C (p.Leu775=) c.*2160G>C (n.*2160G>C) c.476G>C n.3504G>C n.2694G>C c.2508G>C (p.Leu836=) c.2463G>C (p.Leu821=) c.2418G>C (p.Leu806=) c.2487G>C (p.Leu829=) c.2472G>C (p.Leu824=) c.2451G>C (p.Leu817=) c.2445G>C (p.Leu815=) c.2400G>C (p.Leu800=) c.2391G>C (p.Leu797=) c.2367G>C (p.Leu789=) c.2361G>C (p.Leu787=) c.2334G>C (p.Leu778=) c.2328G>C (p.Leu776=) c.2322G>C (p.Leu774=) c.2271G>C (p.Leu757=) c.2190G>C (p.Leu730=) c.2308-261G>C (n.2308-261G>C) c.2112G>C (p.Leu704=) c.2208+1128G>C (n.2208+1128G>C) c.1332G>C (p.Leu444=) n.2608G>C | dbSNP |
17 | g.39724788G>T | CA499670874 | ERBB2 | c.2370G>T (p.Leu790=) c.2280G>T (p.Leu760=) c.1542G>T (p.Leu514=) c.2325G>T (p.Leu775=) c.*2160G>T (n.*2160G>T) c.476G>T n.3504G>T n.2694G>T c.2508G>T (p.Leu836=) c.2463G>T (p.Leu821=) c.2418G>T (p.Leu806=) c.2487G>T (p.Leu829=) c.2472G>T (p.Leu824=) c.2451G>T (p.Leu817=) c.2445G>T (p.Leu815=) c.2400G>T (p.Leu800=) c.2391G>T (p.Leu797=) c.2367G>T (p.Leu789=) c.2361G>T (p.Leu787=) c.2334G>T (p.Leu778=) c.2328G>T (p.Leu776=) c.2322G>T (p.Leu774=) c.2271G>T (p.Leu757=) c.2190G>T (p.Leu730=) c.2308-261G>T (n.2308-261G>T) c.2112G>T (p.Leu704=) c.2208+1128G>T (n.2208+1128G>T) c.1332G>T (p.Leu444=) n.2608G>T | dbSNP |
17 | g.39724789A>C | CA399303088 | ERBB2 | c.2371A>C (p.Thr791Pro) c.2281A>C (p.Thr761Pro) c.1543A>C (p.Thr515Pro) c.2326A>C (p.Thr776Pro) c.*2161A>C (n.*2161A>C) c.477A>C n.3505A>C n.2695A>C c.2509A>C (p.Thr837Pro) c.2464A>C (p.Thr822Pro) c.2419A>C (p.Thr807Pro) c.2488A>C (p.Thr830Pro) c.2473A>C (p.Thr825Pro) c.2452A>C (p.Thr818Pro) c.2446A>C (p.Thr816Pro) c.2401A>C (p.Thr801Pro) c.2392A>C (p.Thr798Pro) c.2368A>C (p.Thr790Pro) c.2362A>C (p.Thr788Pro) c.2335A>C (p.Thr779Pro) c.2329A>C (p.Thr777Pro) c.2323A>C (p.Thr775Pro) c.2272A>C (p.Thr758Pro) c.2191A>C (p.Thr731Pro) c.2308-260A>C (n.2308-260A>C) c.2113A>C (p.Thr705Pro) c.2208+1129A>C (n.2208+1129A>C) c.1333A>C (p.Thr445Pro) n.2609A>C | dbSNP |
17 | g.39724789A>G | CA399303090 | ERBB2 | c.2371A>G (p.Thr791Ala) c.2281A>G (p.Thr761Ala) c.1543A>G (p.Thr515Ala) c.2326A>G (p.Thr776Ala) c.*2161A>G (n.*2161A>G) c.477A>G n.3505A>G n.2695A>G c.2509A>G (p.Thr837Ala) c.2464A>G (p.Thr822Ala) c.2419A>G (p.Thr807Ala) c.2488A>G (p.Thr830Ala) c.2473A>G (p.Thr825Ala) c.2452A>G (p.Thr818Ala) c.2446A>G (p.Thr816Ala) c.2401A>G (p.Thr801Ala) c.2392A>G (p.Thr798Ala) c.2368A>G (p.Thr790Ala) c.2362A>G (p.Thr788Ala) c.2335A>G (p.Thr779Ala) c.2329A>G (p.Thr777Ala) c.2323A>G (p.Thr775Ala) c.2272A>G (p.Thr758Ala) c.2191A>G (p.Thr731Ala) c.2308-260A>G (n.2308-260A>G) c.2113A>G (p.Thr705Ala) c.2208+1129A>G (n.2208+1129A>G) c.1333A>G (p.Thr445Ala) n.2609A>G | dbSNP |
17 | g.39724789A>T | CA399303093 | ERBB2 | c.2371A>T (p.Thr791Ser) c.2281A>T (p.Thr761Ser) c.1543A>T (p.Thr515Ser) c.2326A>T (p.Thr776Ser) c.*2161A>T (n.*2161A>T) c.477A>T n.3505A>T n.2695A>T c.2509A>T (p.Thr837Ser) c.2464A>T (p.Thr822Ser) c.2419A>T (p.Thr807Ser) c.2488A>T (p.Thr830Ser) c.2473A>T (p.Thr825Ser) c.2452A>T (p.Thr818Ser) c.2446A>T (p.Thr816Ser) c.2401A>T (p.Thr801Ser) c.2392A>T (p.Thr798Ser) c.2368A>T (p.Thr790Ser) c.2362A>T (p.Thr788Ser) c.2335A>T (p.Thr779Ser) c.2329A>T (p.Thr777Ser) c.2323A>T (p.Thr775Ser) c.2272A>T (p.Thr758Ser) c.2191A>T (p.Thr731Ser) c.2308-260A>T (n.2308-260A>T) c.2113A>T (p.Thr705Ser) c.2208+1129A>T (n.2208+1129A>T) c.1333A>T (p.Thr445Ser) n.2609A>T | dbSNP |
17 | g.39724790C>A | CA399303097 | ERBB2 | c.2372C>A (p.Thr791Lys) c.2282C>A (p.Thr761Lys) c.1544C>A (p.Thr515Lys) c.2327C>A (p.Thr776Lys) c.*2162C>A (n.*2162C>A) c.478C>A n.3506C>A n.2696C>A c.2510C>A (p.Thr837Lys) c.2465C>A (p.Thr822Lys) c.2420C>A (p.Thr807Lys) c.2489C>A (p.Thr830Lys) c.2474C>A (p.Thr825Lys) c.2453C>A (p.Thr818Lys) c.2447C>A (p.Thr816Lys) c.2402C>A (p.Thr801Lys) c.2393C>A (p.Thr798Lys) c.2369C>A (p.Thr790Lys) c.2363C>A (p.Thr788Lys) c.2336C>A (p.Thr779Lys) c.2330C>A (p.Thr777Lys) c.2324C>A (p.Thr775Lys) c.2273C>A (p.Thr758Lys) c.2192C>A (p.Thr731Lys) c.2308-259C>A (n.2308-259C>A) c.2114C>A (p.Thr705Lys) c.2208+1130C>A (n.2208+1130C>A) c.1334C>A (p.Thr445Lys) n.2610C>A | dbSNP |
17 | g.39724790C>G | CA399303100 | ERBB2 | c.2372C>G (p.Thr791Arg) c.2282C>G (p.Thr761Arg) c.1544C>G (p.Thr515Arg) c.2327C>G (p.Thr776Arg) c.*2162C>G (n.*2162C>G) c.478C>G n.3506C>G n.2696C>G c.2510C>G (p.Thr837Arg) c.2465C>G (p.Thr822Arg) c.2420C>G (p.Thr807Arg) c.2489C>G (p.Thr830Arg) c.2474C>G (p.Thr825Arg) c.2453C>G (p.Thr818Arg) c.2447C>G (p.Thr816Arg) c.2402C>G (p.Thr801Arg) c.2393C>G (p.Thr798Arg) c.2369C>G (p.Thr790Arg) c.2363C>G (p.Thr788Arg) c.2336C>G (p.Thr779Arg) c.2330C>G (p.Thr777Arg) c.2324C>G (p.Thr775Arg) c.2273C>G (p.Thr758Arg) c.2192C>G (p.Thr731Arg) c.2308-259C>G (n.2308-259C>G) c.2114C>G (p.Thr705Arg) c.2208+1130C>G (n.2208+1130C>G) c.1334C>G (p.Thr445Arg) n.2610C>G | dbSNP |
17 | g.39724790C>T | CA399303103 | ERBB2 | c.2372C>T (p.Thr791Ile) c.2282C>T (p.Thr761Ile) c.1544C>T (p.Thr515Ile) c.2327C>T (p.Thr776Ile) c.*2162C>T (n.*2162C>T) c.478C>T n.3506C>T n.2696C>T c.2510C>T (p.Thr837Ile) c.2465C>T (p.Thr822Ile) c.2420C>T (p.Thr807Ile) c.2489C>T (p.Thr830Ile) c.2474C>T (p.Thr825Ile) c.2453C>T (p.Thr818Ile) c.2447C>T (p.Thr816Ile) c.2402C>T (p.Thr801Ile) c.2393C>T (p.Thr798Ile) c.2369C>T (p.Thr790Ile) c.2363C>T (p.Thr788Ile) c.2336C>T (p.Thr779Ile) c.2330C>T (p.Thr777Ile) c.2324C>T (p.Thr775Ile) c.2273C>T (p.Thr758Ile) c.2192C>T (p.Thr731Ile) c.2308-259C>T (n.2308-259C>T) c.2114C>T (p.Thr705Ile) c.2208+1130C>T (n.2208+1130C>T) c.1334C>T (p.Thr445Ile) n.2610C>T | dbSNP |
17 | g.39724791A>C | CA499670877 | ERBB2 | c.2373A>C (p.Thr791=) c.2283A>C (p.Thr761=) c.1545A>C (p.Thr515=) c.2328A>C (p.Thr776=) c.*2163A>C (n.*2163A>C) c.479A>C n.3507A>C n.2697A>C c.2511A>C (p.Thr837=) c.2466A>C (p.Thr822=) c.2421A>C (p.Thr807=) c.2490A>C (p.Thr830=) c.2475A>C (p.Thr825=) c.2454A>C (p.Thr818=) c.2448A>C (p.Thr816=) c.2403A>C (p.Thr801=) c.2394A>C (p.Thr798=) c.2370A>C (p.Thr790=) c.2364A>C (p.Thr788=) c.2337A>C (p.Thr779=) c.2331A>C (p.Thr777=) c.2325A>C (p.Thr775=) c.2274A>C (p.Thr758=) c.2193A>C (p.Thr731=) c.2308-258A>C (n.2308-258A>C) c.2115A>C (p.Thr705=) c.2208+1131A>C (n.2208+1131A>C) c.1335A>C (p.Thr445=) n.2611A>C | dbSNP |
17 | g.39724791A>G | CA499670879 | ERBB2 | c.2373A>G (p.Thr791=) c.2283A>G (p.Thr761=) c.1545A>G (p.Thr515=) c.2328A>G (p.Thr776=) c.*2163A>G (n.*2163A>G) c.479A>G n.3507A>G n.2697A>G c.2511A>G (p.Thr837=) c.2466A>G (p.Thr822=) c.2421A>G (p.Thr807=) c.2490A>G (p.Thr830=) c.2475A>G (p.Thr825=) c.2454A>G (p.Thr818=) c.2448A>G (p.Thr816=) c.2403A>G (p.Thr801=) c.2394A>G (p.Thr798=) c.2370A>G (p.Thr790=) c.2364A>G (p.Thr788=) c.2337A>G (p.Thr779=) c.2331A>G (p.Thr777=) c.2325A>G (p.Thr775=) c.2274A>G (p.Thr758=) c.2193A>G (p.Thr731=) c.2308-258A>G (n.2308-258A>G) c.2115A>G (p.Thr705=) c.2208+1131A>G (n.2208+1131A>G) c.1335A>G (p.Thr445=) n.2611A>G | dbSNP |
17 | g.39724791A>T | CA499670878 | ERBB2 | c.2373A>T (p.Thr791=) c.2283A>T (p.Thr761=) c.1545A>T (p.Thr515=) c.2328A>T (p.Thr776=) c.*2163A>T (n.*2163A>T) c.479A>T n.3507A>T n.2697A>T c.2511A>T (p.Thr837=) c.2466A>T (p.Thr822=) c.2421A>T (p.Thr807=) c.2490A>T (p.Thr830=) c.2475A>T (p.Thr825=) c.2454A>T (p.Thr818=) c.2448A>T (p.Thr816=) c.2403A>T (p.Thr801=) c.2394A>T (p.Thr798=) c.2370A>T (p.Thr790=) c.2364A>T (p.Thr788=) c.2337A>T (p.Thr779=) c.2331A>T (p.Thr777=) c.2325A>T (p.Thr775=) c.2274A>T (p.Thr758=) c.2193A>T (p.Thr731=) c.2308-258A>T (n.2308-258A>T) c.2115A>T (p.Thr705=) c.2208+1131A>T (n.2208+1131A>T) c.1335A>T (p.Thr445=) n.2611A>T | dbSNP |
17 | g.39724792T>A | CA399303106 | ERBB2 | c.2374T>A (p.Ser792Thr) c.2284T>A (p.Ser762Thr) c.1546T>A (p.Ser516Thr) c.2329T>A (p.Ser777Thr) c.*2164T>A (n.*2164T>A) c.480T>A n.3508T>A n.2698T>A c.2512T>A (p.Ser838Thr) c.2467T>A (p.Ser823Thr) c.2422T>A (p.Ser808Thr) c.2491T>A (p.Ser831Thr) c.2476T>A (p.Ser826Thr) c.2455T>A (p.Ser819Thr) c.2449T>A (p.Ser817Thr) c.2404T>A (p.Ser802Thr) c.2395T>A (p.Ser799Thr) c.2371T>A (p.Ser791Thr) c.2365T>A (p.Ser789Thr) c.2338T>A (p.Ser780Thr) c.2332T>A (p.Ser778Thr) c.2326T>A (p.Ser776Thr) c.2275T>A (p.Ser759Thr) c.2194T>A (p.Ser732Thr) c.2308-257T>A (n.2308-257T>A) c.2116T>A (p.Ser706Thr) c.2208+1132T>A (n.2208+1132T>A) c.1336T>A (p.Ser446Thr) n.2612T>A | |
17 | g.39724792T>C | CA399303114 | ERBB2 | c.2374T>C (p.Ser792Pro) c.2284T>C (p.Ser762Pro) c.1546T>C (p.Ser516Pro) c.2329T>C (p.Ser777Pro) c.*2164T>C (n.*2164T>C) c.480T>C n.3508T>C n.2698T>C c.2512T>C (p.Ser838Pro) c.2467T>C (p.Ser823Pro) c.2422T>C (p.Ser808Pro) c.2491T>C (p.Ser831Pro) c.2476T>C (p.Ser826Pro) c.2455T>C (p.Ser819Pro) c.2449T>C (p.Ser817Pro) c.2404T>C (p.Ser802Pro) c.2395T>C (p.Ser799Pro) c.2371T>C (p.Ser791Pro) c.2365T>C (p.Ser789Pro) c.2338T>C (p.Ser780Pro) c.2332T>C (p.Ser778Pro) c.2326T>C (p.Ser776Pro) c.2275T>C (p.Ser759Pro) c.2194T>C (p.Ser732Pro) c.2308-257T>C (n.2308-257T>C) c.2116T>C (p.Ser706Pro) c.2208+1132T>C (n.2208+1132T>C) c.1336T>C (p.Ser446Pro) n.2612T>C | |
17 | g.39724792T>G | CA399303117 | ERBB2 | c.2374T>G (p.Ser792Ala) c.2284T>G (p.Ser762Ala) c.1546T>G (p.Ser516Ala) c.2329T>G (p.Ser777Ala) c.*2164T>G (n.*2164T>G) c.480T>G n.3508T>G n.2698T>G c.2512T>G (p.Ser838Ala) c.2467T>G (p.Ser823Ala) c.2422T>G (p.Ser808Ala) c.2491T>G (p.Ser831Ala) c.2476T>G (p.Ser826Ala) c.2455T>G (p.Ser819Ala) c.2449T>G (p.Ser817Ala) c.2404T>G (p.Ser802Ala) c.2395T>G (p.Ser799Ala) c.2371T>G (p.Ser791Ala) c.2365T>G (p.Ser789Ala) c.2338T>G (p.Ser780Ala) c.2332T>G (p.Ser778Ala) c.2326T>G (p.Ser776Ala) c.2275T>G (p.Ser759Ala) c.2194T>G (p.Ser732Ala) c.2308-257T>G (n.2308-257T>G) c.2116T>G (p.Ser706Ala) c.2208+1132T>G (n.2208+1132T>G) c.1336T>G (p.Ser446Ala) n.2612T>G | |
17 | g.39724793C>A | CA399303123 | ERBB2 | c.2375C>A (p.Ser792Tyr) c.2285C>A (p.Ser762Tyr) c.1547C>A (p.Ser516Tyr) c.2330C>A (p.Ser777Tyr) c.*2165C>A (n.*2165C>A) c.481C>A n.3509C>A n.2699C>A c.2513C>A (p.Ser838Tyr) c.2468C>A (p.Ser823Tyr) c.2423C>A (p.Ser808Tyr) c.2492C>A (p.Ser831Tyr) c.2477C>A (p.Ser826Tyr) c.2456C>A (p.Ser819Tyr) c.2450C>A (p.Ser817Tyr) c.2405C>A (p.Ser802Tyr) c.2396C>A (p.Ser799Tyr) c.2372C>A (p.Ser791Tyr) c.2366C>A (p.Ser789Tyr) c.2339C>A (p.Ser780Tyr) c.2333C>A (p.Ser778Tyr) c.2327C>A (p.Ser776Tyr) c.2276C>A (p.Ser759Tyr) c.2195C>A (p.Ser732Tyr) c.2308-256C>A (n.2308-256C>A) c.2117C>A (p.Ser706Tyr) c.2208+1133C>A (n.2208+1133C>A) c.1337C>A (p.Ser446Tyr) n.2613C>A | dbSNP |
17 | g.39724793C>G | CA399303127 | ERBB2 | c.2375C>G (p.Ser792Cys) c.2285C>G (p.Ser762Cys) c.1547C>G (p.Ser516Cys) c.2330C>G (p.Ser777Cys) c.*2165C>G (n.*2165C>G) c.481C>G n.3509C>G n.2699C>G c.2513C>G (p.Ser838Cys) c.2468C>G (p.Ser823Cys) c.2423C>G (p.Ser808Cys) c.2492C>G (p.Ser831Cys) c.2477C>G (p.Ser826Cys) c.2456C>G (p.Ser819Cys) c.2450C>G (p.Ser817Cys) c.2405C>G (p.Ser802Cys) c.2396C>G (p.Ser799Cys) c.2372C>G (p.Ser791Cys) c.2366C>G (p.Ser789Cys) c.2339C>G (p.Ser780Cys) c.2333C>G (p.Ser778Cys) c.2327C>G (p.Ser776Cys) c.2276C>G (p.Ser759Cys) c.2195C>G (p.Ser732Cys) c.2308-256C>G (n.2308-256C>G) c.2117C>G (p.Ser706Cys) c.2208+1133C>G (n.2208+1133C>G) c.1337C>G (p.Ser446Cys) n.2613C>G | dbSNP |
17 | g.39724793C>T | CA399303121 | ERBB2 | c.2375C>T (p.Ser792Phe) c.2285C>T (p.Ser762Phe) c.1547C>T (p.Ser516Phe) c.2330C>T (p.Ser777Phe) c.*2165C>T (n.*2165C>T) c.481C>T n.3509C>T n.2699C>T c.2513C>T (p.Ser838Phe) c.2468C>T (p.Ser823Phe) c.2423C>T (p.Ser808Phe) c.2492C>T (p.Ser831Phe) c.2477C>T (p.Ser826Phe) c.2456C>T (p.Ser819Phe) c.2450C>T (p.Ser817Phe) c.2405C>T (p.Ser802Phe) c.2396C>T (p.Ser799Phe) c.2372C>T (p.Ser791Phe) c.2366C>T (p.Ser789Phe) c.2339C>T (p.Ser780Phe) c.2333C>T (p.Ser778Phe) c.2327C>T (p.Ser776Phe) c.2276C>T (p.Ser759Phe) c.2195C>T (p.Ser732Phe) c.2308-256C>T (n.2308-256C>T) c.2117C>T (p.Ser706Phe) c.2208+1133C>T (n.2208+1133C>T) c.1337C>T (p.Ser446Phe) n.2613C>T | dbSNP |
17 | g.39724794C>A | CA499670880 | ERBB2 | c.2376C>A (p.Ser792=) c.2286C>A (p.Ser762=) c.1548C>A (p.Ser516=) c.2331C>A (p.Ser777=) c.*2166C>A (n.*2166C>A) c.482C>A n.3510C>A n.2700C>A c.2514C>A (p.Ser838=) c.2469C>A (p.Ser823=) c.2424C>A (p.Ser808=) c.2493C>A (p.Ser831=) c.2478C>A (p.Ser826=) c.2457C>A (p.Ser819=) c.2451C>A (p.Ser817=) c.2406C>A (p.Ser802=) c.2397C>A (p.Ser799=) c.2373C>A (p.Ser791=) c.2367C>A (p.Ser789=) c.2340C>A (p.Ser780=) c.2334C>A (p.Ser778=) c.2328C>A (p.Ser776=) c.2277C>A (p.Ser759=) c.2196C>A (p.Ser732=) c.2308-255C>A (n.2308-255C>A) c.2118C>A (p.Ser706=) c.2208+1134C>A (n.2208+1134C>A) c.1338C>A (p.Ser446=) n.2614C>A | |
17 | g.39724794C>G | CA499670881 | ERBB2 | c.2376C>G (p.Ser792=) c.2286C>G (p.Ser762=) c.1548C>G (p.Ser516=) c.2331C>G (p.Ser777=) c.*2166C>G (n.*2166C>G) c.482C>G n.3510C>G n.2700C>G c.2514C>G (p.Ser838=) c.2469C>G (p.Ser823=) c.2424C>G (p.Ser808=) c.2493C>G (p.Ser831=) c.2478C>G (p.Ser826=) c.2457C>G (p.Ser819=) c.2451C>G (p.Ser817=) c.2406C>G (p.Ser802=) c.2397C>G (p.Ser799=) c.2373C>G (p.Ser791=) c.2367C>G (p.Ser789=) c.2340C>G (p.Ser780=) c.2334C>G (p.Ser778=) c.2328C>G (p.Ser776=) c.2277C>G (p.Ser759=) c.2196C>G (p.Ser732=) c.2308-255C>G (n.2308-255C>G) c.2118C>G (p.Ser706=) c.2208+1134C>G (n.2208+1134C>G) c.1338C>G (p.Ser446=) n.2614C>G | dbSNP |
17 | g.39724794C>T | CA499670882 | ERBB2 | c.2376C>T (p.Ser792=) c.2286C>T (p.Ser762=) c.1548C>T (p.Ser516=) c.2331C>T (p.Ser777=) c.*2166C>T (n.*2166C>T) c.482C>T n.3510C>T n.2700C>T c.2514C>T (p.Ser838=) c.2469C>T (p.Ser823=) c.2424C>T (p.Ser808=) c.2493C>T (p.Ser831=) c.2478C>T (p.Ser826=) c.2457C>T (p.Ser819=) c.2451C>T (p.Ser817=) c.2406C>T (p.Ser802=) c.2397C>T (p.Ser799=) c.2373C>T (p.Ser791=) c.2367C>T (p.Ser789=) c.2340C>T (p.Ser780=) c.2334C>T (p.Ser778=) c.2328C>T (p.Ser776=) c.2277C>T (p.Ser759=) c.2196C>T (p.Ser732=) c.2308-255C>T (n.2308-255C>T) c.2118C>T (p.Ser706=) c.2208+1134C>T (n.2208+1134C>T) c.1338C>T (p.Ser446=) n.2614C>T | dbSNP |
17 | g.39724795A>C | CA399303131 | ERBB2 | c.2377A>C (p.Thr793Pro) c.2287A>C (p.Thr763Pro) c.1549A>C (p.Thr517Pro) c.2332A>C (p.Thr778Pro) c.*2167A>C (n.*2167A>C) c.483A>C n.3511A>C n.2701A>C c.2515A>C (p.Thr839Pro) c.2470A>C (p.Thr824Pro) c.2425A>C (p.Thr809Pro) c.2494A>C (p.Thr832Pro) c.2479A>C (p.Thr827Pro) c.2458A>C (p.Thr820Pro) c.2452A>C (p.Thr818Pro) c.2407A>C (p.Thr803Pro) c.2398A>C (p.Thr800Pro) c.2374A>C (p.Thr792Pro) c.2368A>C (p.Thr790Pro) c.2341A>C (p.Thr781Pro) c.2335A>C (p.Thr779Pro) c.2329A>C (p.Thr777Pro) c.2278A>C (p.Thr760Pro) c.2197A>C (p.Thr733Pro) c.2308-254A>C (n.2308-254A>C) c.2119A>C (p.Thr707Pro) c.2208+1135A>C (n.2208+1135A>C) c.1339A>C (p.Thr447Pro) n.2615A>C | dbSNP |
17 | g.39724795A>G | CA399303133 | ERBB2 | c.2377A>G (p.Thr793Ala) c.2287A>G (p.Thr763Ala) c.1549A>G (p.Thr517Ala) c.2332A>G (p.Thr778Ala) c.*2167A>G (n.*2167A>G) c.483A>G n.3511A>G n.2701A>G c.2515A>G (p.Thr839Ala) c.2470A>G (p.Thr824Ala) c.2425A>G (p.Thr809Ala) c.2494A>G (p.Thr832Ala) c.2479A>G (p.Thr827Ala) c.2458A>G (p.Thr820Ala) c.2452A>G (p.Thr818Ala) c.2407A>G (p.Thr803Ala) c.2398A>G (p.Thr800Ala) c.2374A>G (p.Thr792Ala) c.2368A>G (p.Thr790Ala) c.2341A>G (p.Thr781Ala) c.2335A>G (p.Thr779Ala) c.2329A>G (p.Thr777Ala) c.2278A>G (p.Thr760Ala) c.2197A>G (p.Thr733Ala) c.2308-254A>G (n.2308-254A>G) c.2119A>G (p.Thr707Ala) c.2208+1135A>G (n.2208+1135A>G) c.1339A>G (p.Thr447Ala) n.2615A>G | dbSNP |
17 | g.39724795A>T | CA399303136 | ERBB2 | c.2377A>T (p.Thr793Ser) c.2287A>T (p.Thr763Ser) c.1549A>T (p.Thr517Ser) c.2332A>T (p.Thr778Ser) c.*2167A>T (n.*2167A>T) c.483A>T n.3511A>T n.2701A>T c.2515A>T (p.Thr839Ser) c.2470A>T (p.Thr824Ser) c.2425A>T (p.Thr809Ser) c.2494A>T (p.Thr832Ser) c.2479A>T (p.Thr827Ser) c.2458A>T (p.Thr820Ser) c.2452A>T (p.Thr818Ser) c.2407A>T (p.Thr803Ser) c.2398A>T (p.Thr800Ser) c.2374A>T (p.Thr792Ser) c.2368A>T (p.Thr790Ser) c.2341A>T (p.Thr781Ser) c.2335A>T (p.Thr779Ser) c.2329A>T (p.Thr777Ser) c.2278A>T (p.Thr760Ser) c.2197A>T (p.Thr733Ser) c.2308-254A>T (n.2308-254A>T) c.2119A>T (p.Thr707Ser) c.2208+1135A>T (n.2208+1135A>T) c.1339A>T (p.Thr447Ser) n.2615A>T | dbSNP |
17 | g.39724796C>A | CA399303140 | ERBB2 | c.2378C>A (p.Thr793Lys) c.2288C>A (p.Thr763Lys) c.1550C>A (p.Thr517Lys) c.2333C>A (p.Thr778Lys) c.*2168C>A (n.*2168C>A) c.484C>A n.3512C>A n.2702C>A c.2516C>A (p.Thr839Lys) c.2471C>A (p.Thr824Lys) c.2426C>A (p.Thr809Lys) c.2495C>A (p.Thr832Lys) c.2480C>A (p.Thr827Lys) c.2459C>A (p.Thr820Lys) c.2453C>A (p.Thr818Lys) c.2408C>A (p.Thr803Lys) c.2399C>A (p.Thr800Lys) c.2375C>A (p.Thr792Lys) c.2369C>A (p.Thr790Lys) c.2342C>A (p.Thr781Lys) c.2336C>A (p.Thr779Lys) c.2330C>A (p.Thr777Lys) c.2279C>A (p.Thr760Lys) c.2198C>A (p.Thr733Lys) c.2308-253C>A (n.2308-253C>A) c.2120C>A (p.Thr707Lys) c.2208+1136C>A (n.2208+1136C>A) c.1340C>A (p.Thr447Lys) n.2616C>A | dbSNP |
17 | g.39724796C= | CA2259228006 | ERBB2 | c.2378C= (p.Thr793=) c.2288C= (p.Thr763=) c.1550C= (p.Thr517=) c.2333C= (p.Thr778=) c.*2168C= (n.*2168C=) c.484C= n.3512C= n.2702C= c.2516C= (p.Thr839=) c.2471C= (p.Thr824=) c.2426C= (p.Thr809=) c.2495C= (p.Thr832=) c.2480C= (p.Thr827=) c.2459C= (p.Thr820=) c.2453C= (p.Thr818=) c.2408C= (p.Thr803=) c.2399C= (p.Thr800=) c.2375C= (p.Thr792=) c.2369C= (p.Thr790=) c.2342C= (p.Thr781=) c.2336C= (p.Thr779=) c.2330C= (p.Thr777=) c.2279C= (p.Thr760=) c.2198C= (p.Thr733=) c.2308-253C= (n.2308-253C=) c.2120C= (p.Thr707=) c.2208+1136C= (n.2208+1136C=) c.1340C= (p.Thr447=) n.2616C= | |
17 | g.39724796C>G | CA399303145 | ERBB2 | c.2378C>G (p.Thr793Arg) c.2288C>G (p.Thr763Arg) c.1550C>G (p.Thr517Arg) c.2333C>G (p.Thr778Arg) c.*2168C>G (n.*2168C>G) c.484C>G n.3512C>G n.2702C>G c.2516C>G (p.Thr839Arg) c.2471C>G (p.Thr824Arg) c.2426C>G (p.Thr809Arg) c.2495C>G (p.Thr832Arg) c.2480C>G (p.Thr827Arg) c.2459C>G (p.Thr820Arg) c.2453C>G (p.Thr818Arg) c.2408C>G (p.Thr803Arg) c.2399C>G (p.Thr800Arg) c.2375C>G (p.Thr792Arg) c.2369C>G (p.Thr790Arg) c.2342C>G (p.Thr781Arg) c.2336C>G (p.Thr779Arg) c.2330C>G (p.Thr777Arg) c.2279C>G (p.Thr760Arg) c.2198C>G (p.Thr733Arg) c.2308-253C>G (n.2308-253C>G) c.2120C>G (p.Thr707Arg) c.2208+1136C>G (n.2208+1136C>G) c.1340C>G (p.Thr447Arg) n.2616C>G | dbSNP |
17 | g.39724796C>T | CA8534288 | ERBB2 | c.2378C>T (p.Thr793Met) c.2288C>T (p.Thr763Met) c.1550C>T (p.Thr517Met) c.2333C>T (p.Thr778Met) c.*2168C>T (n.*2168C>T) c.484C>T n.3512C>T n.2702C>T c.2516C>T (p.Thr839Met) c.2471C>T (p.Thr824Met) c.2426C>T (p.Thr809Met) c.2495C>T (p.Thr832Met) c.2480C>T (p.Thr827Met) c.2459C>T (p.Thr820Met) c.2453C>T (p.Thr818Met) c.2408C>T (p.Thr803Met) c.2399C>T (p.Thr800Met) c.2375C>T (p.Thr792Met) c.2369C>T (p.Thr790Met) c.2342C>T (p.Thr781Met) c.2336C>T (p.Thr779Met) c.2330C>T (p.Thr777Met) c.2279C>T (p.Thr760Met) c.2198C>T (p.Thr733Met) c.2308-253C>T (n.2308-253C>T) c.2120C>T (p.Thr707Met) c.2208+1136C>T (n.2208+1136C>T) c.1340C>T (p.Thr447Met) n.2616C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724797G>A | CA8534289 | ERBB2 | c.2379G>A (p.Thr793=) c.2289G>A (p.Thr763=) c.1551G>A (p.Thr517=) c.2334G>A (p.Thr778=) c.*2169G>A (n.*2169G>A) c.485G>A n.3513G>A n.2703G>A c.2517G>A (p.Thr839=) c.2472G>A (p.Thr824=) c.2427G>A (p.Thr809=) c.2496G>A (p.Thr832=) c.2481G>A (p.Thr827=) c.2460G>A (p.Thr820=) c.2454G>A (p.Thr818=) c.2409G>A (p.Thr803=) c.2400G>A (p.Thr800=) c.2376G>A (p.Thr792=) c.2370G>A (p.Thr790=) c.2343G>A (p.Thr781=) c.2337G>A (p.Thr779=) c.2331G>A (p.Thr777=) c.2280G>A (p.Thr760=) c.2199G>A (p.Thr733=) c.2308-252G>A (n.2308-252G>A) c.2121G>A (p.Thr707=) c.2208+1137G>A (n.2208+1137G>A) c.1341G>A (p.Thr447=) n.2617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39724797G>C | CA499670883 | ERBB2 | c.2379G>C (p.Thr793=) c.2289G>C (p.Thr763=) c.1551G>C (p.Thr517=) c.2334G>C (p.Thr778=) c.*2169G>C (n.*2169G>C) c.485G>C n.3513G>C n.2703G>C c.2517G>C (p.Thr839=) c.2472G>C (p.Thr824=) c.2427G>C (p.Thr809=) c.2496G>C (p.Thr832=) c.2481G>C (p.Thr827=) c.2460G>C (p.Thr820=) c.2454G>C (p.Thr818=) c.2409G>C (p.Thr803=) c.2400G>C (p.Thr800=) c.2376G>C (p.Thr792=) c.2370G>C (p.Thr790=) c.2343G>C (p.Thr781=) c.2337G>C (p.Thr779=) c.2331G>C (p.Thr777=) c.2280G>C (p.Thr760=) c.2199G>C (p.Thr733=) c.2308-252G>C (n.2308-252G>C) c.2121G>C (p.Thr707=) c.2208+1137G>C (n.2208+1137G>C) c.1341G>C (p.Thr447=) n.2617G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724797G= | CA2259228007 | ERBB2 | c.2379G= (p.Thr793=) c.2289G= (p.Thr763=) c.1551G= (p.Thr517=) c.2334G= (p.Thr778=) c.*2169G= (n.*2169G=) c.485G= n.3513G= n.2703G= c.2517G= (p.Thr839=) c.2472G= (p.Thr824=) c.2427G= (p.Thr809=) c.2496G= (p.Thr832=) c.2481G= (p.Thr827=) c.2460G= (p.Thr820=) c.2454G= (p.Thr818=) c.2409G= (p.Thr803=) c.2400G= (p.Thr800=) c.2376G= (p.Thr792=) c.2370G= (p.Thr790=) c.2343G= (p.Thr781=) c.2337G= (p.Thr779=) c.2331G= (p.Thr777=) c.2280G= (p.Thr760=) c.2199G= (p.Thr733=) c.2308-252G= (n.2308-252G=) c.2121G= (p.Thr707=) c.2208+1137G= (n.2208+1137G=) c.1341G= (p.Thr447=) n.2617G= | |
17 | g.39724797G>T | CA499670884 | ERBB2 | c.2379G>T (p.Thr793=) c.2289G>T (p.Thr763=) c.1551G>T (p.Thr517=) c.2334G>T (p.Thr778=) c.*2169G>T (n.*2169G>T) c.485G>T n.3513G>T n.2703G>T c.2517G>T (p.Thr839=) c.2472G>T (p.Thr824=) c.2427G>T (p.Thr809=) c.2496G>T (p.Thr832=) c.2481G>T (p.Thr827=) c.2460G>T (p.Thr820=) c.2454G>T (p.Thr818=) c.2409G>T (p.Thr803=) c.2400G>T (p.Thr800=) c.2376G>T (p.Thr792=) c.2370G>T (p.Thr790=) c.2343G>T (p.Thr781=) c.2337G>T (p.Thr779=) c.2331G>T (p.Thr777=) c.2280G>T (p.Thr760=) c.2199G>T (p.Thr733=) c.2308-252G>T (n.2308-252G>T) c.2121G>T (p.Thr707=) c.2208+1137G>T (n.2208+1137G>T) c.1341G>T (p.Thr447=) n.2617G>T | dbSNP |
17 | g.39724798G>A | CA399303151 | ERBB2 | c.2380G>A (p.Val794Met) c.2290G>A (p.Val764Met) c.1552G>A (p.Val518Met) c.2335G>A (p.Val779Met) c.*2170G>A (n.*2170G>A) c.486G>A n.3514G>A n.2704G>A c.2518G>A (p.Val840Met) c.2473G>A (p.Val825Met) c.2428G>A (p.Val810Met) c.2497G>A (p.Val833Met) c.2482G>A (p.Val828Met) c.2461G>A (p.Val821Met) c.2455G>A (p.Val819Met) c.2410G>A (p.Val804Met) c.2401G>A (p.Val801Met) c.2377G>A (p.Val793Met) c.2371G>A (p.Val791Met) c.2344G>A (p.Val782Met) c.2338G>A (p.Val780Met) c.2332G>A (p.Val778Met) c.2281G>A (p.Val761Met) c.2200G>A (p.Val734Met) c.2308-251G>A (n.2308-251G>A) c.2122G>A (p.Val708Met) c.2208+1138G>A (n.2208+1138G>A) c.1342G>A (p.Val448Met) n.2618G>A | dbSNP |
17 | g.39724798G>C | CA399303154 | ERBB2 | c.2380G>C (p.Val794Leu) c.2290G>C (p.Val764Leu) c.1552G>C (p.Val518Leu) c.2335G>C (p.Val779Leu) c.*2170G>C (n.*2170G>C) c.486G>C n.3514G>C n.2704G>C c.2518G>C (p.Val840Leu) c.2473G>C (p.Val825Leu) c.2428G>C (p.Val810Leu) c.2497G>C (p.Val833Leu) c.2482G>C (p.Val828Leu) c.2461G>C (p.Val821Leu) c.2455G>C (p.Val819Leu) c.2410G>C (p.Val804Leu) c.2401G>C (p.Val801Leu) c.2377G>C (p.Val793Leu) c.2371G>C (p.Val791Leu) c.2344G>C (p.Val782Leu) c.2338G>C (p.Val780Leu) c.2332G>C (p.Val778Leu) c.2281G>C (p.Val761Leu) c.2200G>C (p.Val734Leu) c.2308-251G>C (n.2308-251G>C) c.2122G>C (p.Val708Leu) c.2208+1138G>C (n.2208+1138G>C) c.1342G>C (p.Val448Leu) n.2618G>C | dbSNP gnomAD v2 |
17 | g.39724798G= | CA2259228008 | ERBB2 | c.2380G= (p.Val794=) c.2290G= (p.Val764=) c.1552G= (p.Val518=) c.2335G= (p.Val779=) c.*2170G= (n.*2170G=) c.486G= n.3514G= n.2704G= c.2518G= (p.Val840=) c.2473G= (p.Val825=) c.2428G= (p.Val810=) c.2497G= (p.Val833=) c.2482G= (p.Val828=) c.2461G= (p.Val821=) c.2455G= (p.Val819=) c.2410G= (p.Val804=) c.2401G= (p.Val801=) c.2377G= (p.Val793=) c.2371G= (p.Val791=) c.2344G= (p.Val782=) c.2338G= (p.Val780=) c.2332G= (p.Val778=) c.2281G= (p.Val761=) c.2200G= (p.Val734=) c.2308-251G= (n.2308-251G=) c.2122G= (p.Val708=) c.2208+1138G= (n.2208+1138G=) c.1342G= (p.Val448=) n.2618G= | |
17 | g.39724798G>T | CA399303157 | ERBB2 | c.2380G>T (p.Val794Leu) c.2290G>T (p.Val764Leu) c.1552G>T (p.Val518Leu) c.2335G>T (p.Val779Leu) c.*2170G>T (n.*2170G>T) c.486G>T n.3514G>T n.2704G>T c.2518G>T (p.Val840Leu) c.2473G>T (p.Val825Leu) c.2428G>T (p.Val810Leu) c.2497G>T (p.Val833Leu) c.2482G>T (p.Val828Leu) c.2461G>T (p.Val821Leu) c.2455G>T (p.Val819Leu) c.2410G>T (p.Val804Leu) c.2401G>T (p.Val801Leu) c.2377G>T (p.Val793Leu) c.2371G>T (p.Val791Leu) c.2344G>T (p.Val782Leu) c.2338G>T (p.Val780Leu) c.2332G>T (p.Val778Leu) c.2281G>T (p.Val761Leu) c.2200G>T (p.Val734Leu) c.2308-251G>T (n.2308-251G>T) c.2122G>T (p.Val708Leu) c.2208+1138G>T (n.2208+1138G>T) c.1342G>T (p.Val448Leu) n.2618G>T | dbSNP |
17 | g.39724799T>A | CA399303161 | ERBB2 | c.2381T>A (p.Val794Glu) c.2291T>A (p.Val764Glu) c.1553T>A (p.Val518Glu) c.2336T>A (p.Val779Glu) c.*2171T>A (n.*2171T>A) c.487T>A n.3515T>A n.2705T>A c.2519T>A (p.Val840Glu) c.2474T>A (p.Val825Glu) c.2429T>A (p.Val810Glu) c.2498T>A (p.Val833Glu) c.2483T>A (p.Val828Glu) c.2462T>A (p.Val821Glu) c.2456T>A (p.Val819Glu) c.2411T>A (p.Val804Glu) c.2402T>A (p.Val801Glu) c.2378T>A (p.Val793Glu) c.2372T>A (p.Val791Glu) c.2345T>A (p.Val782Glu) c.2339T>A (p.Val780Glu) c.2333T>A (p.Val778Glu) c.2282T>A (p.Val761Glu) c.2201T>A (p.Val734Glu) c.2308-250T>A (n.2308-250T>A) c.2123T>A (p.Val708Glu) c.2208+1139T>A (n.2208+1139T>A) c.1343T>A (p.Val448Glu) n.2619T>A | dbSNP |
17 | g.39724799T>C | CA399303164 | ERBB2 | c.2381T>C (p.Val794Ala) c.2291T>C (p.Val764Ala) c.1553T>C (p.Val518Ala) c.2336T>C (p.Val779Ala) c.*2171T>C (n.*2171T>C) c.487T>C n.3515T>C n.2705T>C c.2519T>C (p.Val840Ala) c.2474T>C (p.Val825Ala) c.2429T>C (p.Val810Ala) c.2498T>C (p.Val833Ala) c.2483T>C (p.Val828Ala) c.2462T>C (p.Val821Ala) c.2456T>C (p.Val819Ala) c.2411T>C (p.Val804Ala) c.2402T>C (p.Val801Ala) c.2378T>C (p.Val793Ala) c.2372T>C (p.Val791Ala) c.2345T>C (p.Val782Ala) c.2339T>C (p.Val780Ala) c.2333T>C (p.Val778Ala) c.2282T>C (p.Val761Ala) c.2201T>C (p.Val734Ala) c.2308-250T>C (n.2308-250T>C) c.2123T>C (p.Val708Ala) c.2208+1139T>C (n.2208+1139T>C) c.1343T>C (p.Val448Ala) n.2619T>C | |
17 | g.39724799T>G | CA399303166 | ERBB2 | c.2381T>G (p.Val794Gly) c.2291T>G (p.Val764Gly) c.1553T>G (p.Val518Gly) c.2336T>G (p.Val779Gly) c.*2171T>G (n.*2171T>G) c.487T>G n.3515T>G n.2705T>G c.2519T>G (p.Val840Gly) c.2474T>G (p.Val825Gly) c.2429T>G (p.Val810Gly) c.2498T>G (p.Val833Gly) c.2483T>G (p.Val828Gly) c.2462T>G (p.Val821Gly) c.2456T>G (p.Val819Gly) c.2411T>G (p.Val804Gly) c.2402T>G (p.Val801Gly) c.2378T>G (p.Val793Gly) c.2372T>G (p.Val791Gly) c.2345T>G (p.Val782Gly) c.2339T>G (p.Val780Gly) c.2333T>G (p.Val778Gly) c.2282T>G (p.Val761Gly) c.2201T>G (p.Val734Gly) c.2308-250T>G (n.2308-250T>G) c.2123T>G (p.Val708Gly) c.2208+1139T>G (n.2208+1139T>G) c.1343T>G (p.Val448Gly) n.2619T>G | dbSNP |
17 | g.39724800G>A | CA499670887 | ERBB2 | c.2382G>A (p.Val794=) c.2292G>A (p.Val764=) c.1554G>A (p.Val518=) c.2337G>A (p.Val779=) c.*2172G>A (n.*2172G>A) c.488G>A n.3516G>A n.2706G>A c.2520G>A (p.Val840=) c.2475G>A (p.Val825=) c.2430G>A (p.Val810=) c.2499G>A (p.Val833=) c.2484G>A (p.Val828=) c.2463G>A (p.Val821=) c.2457G>A (p.Val819=) c.2412G>A (p.Val804=) c.2403G>A (p.Val801=) c.2379G>A (p.Val793=) c.2373G>A (p.Val791=) c.2346G>A (p.Val782=) c.2340G>A (p.Val780=) c.2334G>A (p.Val778=) c.2283G>A (p.Val761=) c.2202G>A (p.Val734=) c.2308-249G>A (n.2308-249G>A) c.2124G>A (p.Val708=) c.2208+1140G>A (n.2208+1140G>A) c.1344G>A (p.Val448=) n.2620G>A | dbSNP gnomAD v4 |
17 | g.39724800G>C | CA499670886 | ERBB2 | c.2382G>C (p.Val794=) c.2292G>C (p.Val764=) c.1554G>C (p.Val518=) c.2337G>C (p.Val779=) c.*2172G>C (n.*2172G>C) c.488G>C n.3516G>C n.2706G>C c.2520G>C (p.Val840=) c.2475G>C (p.Val825=) c.2430G>C (p.Val810=) c.2499G>C (p.Val833=) c.2484G>C (p.Val828=) c.2463G>C (p.Val821=) c.2457G>C (p.Val819=) c.2412G>C (p.Val804=) c.2403G>C (p.Val801=) c.2379G>C (p.Val793=) c.2373G>C (p.Val791=) c.2346G>C (p.Val782=) c.2340G>C (p.Val780=) c.2334G>C (p.Val778=) c.2283G>C (p.Val761=) c.2202G>C (p.Val734=) c.2308-249G>C (n.2308-249G>C) c.2124G>C (p.Val708=) c.2208+1140G>C (n.2208+1140G>C) c.1344G>C (p.Val448=) n.2620G>C | dbSNP |
17 | g.39724800G>T | CA499670885 | ERBB2 | c.2382G>T (p.Val794=) c.2292G>T (p.Val764=) c.1554G>T (p.Val518=) c.2337G>T (p.Val779=) c.*2172G>T (n.*2172G>T) c.488G>T n.3516G>T n.2706G>T c.2520G>T (p.Val840=) c.2475G>T (p.Val825=) c.2430G>T (p.Val810=) c.2499G>T (p.Val833=) c.2484G>T (p.Val828=) c.2463G>T (p.Val821=) c.2457G>T (p.Val819=) c.2412G>T (p.Val804=) c.2403G>T (p.Val801=) c.2379G>T (p.Val793=) c.2373G>T (p.Val791=) c.2346G>T (p.Val782=) c.2340G>T (p.Val780=) c.2334G>T (p.Val778=) c.2283G>T (p.Val761=) c.2202G>T (p.Val734=) c.2308-249G>T (n.2308-249G>T) c.2124G>T (p.Val708=) c.2208+1140G>T (n.2208+1140G>T) c.1344G>T (p.Val448=) n.2620G>T | |
17 | g.39724801C>A | CA399303170 | ERBB2 | c.2383C>A (p.Gln795Lys) c.2293C>A (p.Gln765Lys) c.1555C>A (p.Gln519Lys) c.2338C>A (p.Gln780Lys) c.*2173C>A (n.*2173C>A) c.489C>A n.3517C>A n.2707C>A c.2521C>A (p.Gln841Lys) c.2476C>A (p.Gln826Lys) c.2431C>A (p.Gln811Lys) c.2500C>A (p.Gln834Lys) c.2485C>A (p.Gln829Lys) c.2464C>A (p.Gln822Lys) c.2458C>A (p.Gln820Lys) c.2413C>A (p.Gln805Lys) c.2404C>A (p.Gln802Lys) c.2380C>A (p.Gln794Lys) c.2374C>A (p.Gln792Lys) c.2347C>A (p.Gln783Lys) c.2341C>A (p.Gln781Lys) c.2335C>A (p.Gln779Lys) c.2284C>A (p.Gln762Lys) c.2203C>A (p.Gln735Lys) c.2308-248C>A (n.2308-248C>A) c.2125C>A (p.Gln709Lys) c.2208+1141C>A (n.2208+1141C>A) c.1345C>A (p.Gln449Lys) n.2621C>A | dbSNP |
17 | g.39724801C= | CA2259228009 | ERBB2 | c.2383C= (p.Gln795=) c.2293C= (p.Gln765=) c.1555C= (p.Gln519=) c.2338C= (p.Gln780=) c.*2173C= (n.*2173C=) c.489C= n.3517C= n.2707C= c.2521C= (p.Gln841=) c.2476C= (p.Gln826=) c.2431C= (p.Gln811=) c.2500C= (p.Gln834=) c.2485C= (p.Gln829=) c.2464C= (p.Gln822=) c.2458C= (p.Gln820=) c.2413C= (p.Gln805=) c.2404C= (p.Gln802=) c.2380C= (p.Gln794=) c.2374C= (p.Gln792=) c.2347C= (p.Gln783=) c.2341C= (p.Gln781=) c.2335C= (p.Gln779=) c.2284C= (p.Gln762=) c.2203C= (p.Gln735=) c.2308-248C= (n.2308-248C=) c.2125C= (p.Gln709=) c.2208+1141C= (n.2208+1141C=) c.1345C= (p.Gln449=) n.2621C= | |
17 | g.39724801C>G | CA399303173 | ERBB2 | c.2383C>G (p.Gln795Glu) c.2293C>G (p.Gln765Glu) c.1555C>G (p.Gln519Glu) c.2338C>G (p.Gln780Glu) c.*2173C>G (n.*2173C>G) c.489C>G n.3517C>G n.2707C>G c.2521C>G (p.Gln841Glu) c.2476C>G (p.Gln826Glu) c.2431C>G (p.Gln811Glu) c.2500C>G (p.Gln834Glu) c.2485C>G (p.Gln829Glu) c.2464C>G (p.Gln822Glu) c.2458C>G (p.Gln820Glu) c.2413C>G (p.Gln805Glu) c.2404C>G (p.Gln802Glu) c.2380C>G (p.Gln794Glu) c.2374C>G (p.Gln792Glu) c.2347C>G (p.Gln783Glu) c.2341C>G (p.Gln781Glu) c.2335C>G (p.Gln779Glu) c.2284C>G (p.Gln762Glu) c.2203C>G (p.Gln735Glu) c.2308-248C>G (n.2308-248C>G) c.2125C>G (p.Gln709Glu) c.2208+1141C>G (n.2208+1141C>G) c.1345C>G (p.Gln449Glu) n.2621C>G | dbSNP |
17 | g.39724801C>T | CA290440556 | ERBB2 | c.2383C>T (p.Gln795Ter) c.2293C>T (p.Gln765Ter) c.1555C>T (p.Gln519Ter) c.2338C>T (p.Gln780Ter) c.*2173C>T (n.*2173C>T) c.489C>T n.3517C>T n.2707C>T c.2521C>T (p.Gln841Ter) c.2476C>T (p.Gln826Ter) c.2431C>T (p.Gln811Ter) c.2500C>T (p.Gln834Ter) c.2485C>T (p.Gln829Ter) c.2464C>T (p.Gln822Ter) c.2458C>T (p.Gln820Ter) c.2413C>T (p.Gln805Ter) c.2404C>T (p.Gln802Ter) c.2380C>T (p.Gln794Ter) c.2374C>T (p.Gln792Ter) c.2347C>T (p.Gln783Ter) c.2341C>T (p.Gln781Ter) c.2335C>T (p.Gln779Ter) c.2284C>T (p.Gln762Ter) c.2203C>T (p.Gln735Ter) c.2308-248C>T (n.2308-248C>T) c.2125C>T (p.Gln709Ter) c.2208+1141C>T (n.2208+1141C>T) c.1345C>T (p.Gln449Ter) n.2621C>T | dbSNP |
17 | g.39724802A= | CA2259228010 | ERBB2 | c.2384A= (p.Gln795=) c.2294A= (p.Gln765=) c.1556A= (p.Gln519=) c.2339A= (p.Gln780=) c.*2174A= (n.*2174A=) c.490A= n.3518A= n.2708A= c.2522A= (p.Gln841=) c.2477A= (p.Gln826=) c.2432A= (p.Gln811=) c.2501A= (p.Gln834=) c.2486A= (p.Gln829=) c.2465A= (p.Gln822=) c.2459A= (p.Gln820=) c.2414A= (p.Gln805=) c.2405A= (p.Gln802=) c.2381A= (p.Gln794=) c.2375A= (p.Gln792=) c.2348A= (p.Gln783=) c.2342A= (p.Gln781=) c.2336A= (p.Gln779=) c.2285A= (p.Gln762=) c.2204A= (p.Gln735=) c.2308-247A= (n.2308-247A=) c.2126A= (p.Gln709=) c.2208+1142A= (n.2208+1142A=) c.1346A= (p.Gln449=) n.2622A= | |
17 | g.39724802A>C | CA399303178 | ERBB2 | c.2384A>C (p.Gln795Pro) c.2294A>C (p.Gln765Pro) c.1556A>C (p.Gln519Pro) c.2339A>C (p.Gln780Pro) c.*2174A>C (n.*2174A>C) c.490A>C n.3518A>C n.2708A>C c.2522A>C (p.Gln841Pro) c.2477A>C (p.Gln826Pro) c.2432A>C (p.Gln811Pro) c.2501A>C (p.Gln834Pro) c.2486A>C (p.Gln829Pro) c.2465A>C (p.Gln822Pro) c.2459A>C (p.Gln820Pro) c.2414A>C (p.Gln805Pro) c.2405A>C (p.Gln802Pro) c.2381A>C (p.Gln794Pro) c.2375A>C (p.Gln792Pro) c.2348A>C (p.Gln783Pro) c.2342A>C (p.Gln781Pro) c.2336A>C (p.Gln779Pro) c.2285A>C (p.Gln762Pro) c.2204A>C (p.Gln735Pro) c.2308-247A>C (n.2308-247A>C) c.2126A>C (p.Gln709Pro) c.2208+1142A>C (n.2208+1142A>C) c.1346A>C (p.Gln449Pro) n.2622A>C | |
17 | g.39724802A>G | CA399303179 | ERBB2 | c.2384A>G (p.Gln795Arg) c.2294A>G (p.Gln765Arg) c.1556A>G (p.Gln519Arg) c.2339A>G (p.Gln780Arg) c.*2174A>G (n.*2174A>G) c.490A>G n.3518A>G n.2708A>G c.2522A>G (p.Gln841Arg) c.2477A>G (p.Gln826Arg) c.2432A>G (p.Gln811Arg) c.2501A>G (p.Gln834Arg) c.2486A>G (p.Gln829Arg) c.2465A>G (p.Gln822Arg) c.2459A>G (p.Gln820Arg) c.2414A>G (p.Gln805Arg) c.2405A>G (p.Gln802Arg) c.2381A>G (p.Gln794Arg) c.2375A>G (p.Gln792Arg) c.2348A>G (p.Gln783Arg) c.2342A>G (p.Gln781Arg) c.2336A>G (p.Gln779Arg) c.2285A>G (p.Gln762Arg) c.2204A>G (p.Gln735Arg) c.2308-247A>G (n.2308-247A>G) c.2126A>G (p.Gln709Arg) c.2208+1142A>G (n.2208+1142A>G) c.1346A>G (p.Gln449Arg) n.2622A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.39724802A>T | CA399303183 | ERBB2 | c.2384A>T (p.Gln795Leu) c.2294A>T (p.Gln765Leu) c.1556A>T (p.Gln519Leu) c.2339A>T (p.Gln780Leu) c.*2174A>T (n.*2174A>T) c.490A>T n.3518A>T n.2708A>T c.2522A>T (p.Gln841Leu) c.2477A>T (p.Gln826Leu) c.2432A>T (p.Gln811Leu) c.2501A>T (p.Gln834Leu) c.2486A>T (p.Gln829Leu) c.2465A>T (p.Gln822Leu) c.2459A>T (p.Gln820Leu) c.2414A>T (p.Gln805Leu) c.2405A>T (p.Gln802Leu) c.2381A>T (p.Gln794Leu) c.2375A>T (p.Gln792Leu) c.2348A>T (p.Gln783Leu) c.2342A>T (p.Gln781Leu) c.2336A>T (p.Gln779Leu) c.2285A>T (p.Gln762Leu) c.2204A>T (p.Gln735Leu) c.2308-247A>T (n.2308-247A>T) c.2126A>T (p.Gln709Leu) c.2208+1142A>T (n.2208+1142A>T) c.1346A>T (p.Gln449Leu) n.2622A>T | dbSNP |
17 | g.39724803G>A | CA8534290 | ERBB2 | c.2385G>A (p.Gln795=) c.2295G>A (p.Gln765=) c.1557G>A (p.Gln519=) c.2340G>A (p.Gln780=) c.*2175G>A (n.*2175G>A) c.491G>A n.3519G>A n.2709G>A c.2523G>A (p.Gln841=) c.2478G>A (p.Gln826=) c.2433G>A (p.Gln811=) c.2502G>A (p.Gln834=) c.2487G>A (p.Gln829=) c.2466G>A (p.Gln822=) c.2460G>A (p.Gln820=) c.2415G>A (p.Gln805=) c.2406G>A (p.Gln802=) c.2382G>A (p.Gln794=) c.2376G>A (p.Gln792=) c.2349G>A (p.Gln783=) c.2343G>A (p.Gln781=) c.2337G>A (p.Gln779=) c.2286G>A (p.Gln762=) c.2205G>A (p.Gln735=) c.2308-246G>A (n.2308-246G>A) c.2127G>A (p.Gln709=) c.2208+1143G>A (n.2208+1143G>A) c.1347G>A (p.Gln449=) n.2623G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724803G>C | CA399303187 | ERBB2 | c.2385G>C (p.Gln795His) c.2295G>C (p.Gln765His) c.1557G>C (p.Gln519His) c.2340G>C (p.Gln780His) c.*2175G>C (n.*2175G>C) c.491G>C n.3519G>C n.2709G>C c.2523G>C (p.Gln841His) c.2478G>C (p.Gln826His) c.2433G>C (p.Gln811His) c.2502G>C (p.Gln834His) c.2487G>C (p.Gln829His) c.2466G>C (p.Gln822His) c.2460G>C (p.Gln820His) c.2415G>C (p.Gln805His) c.2406G>C (p.Gln802His) c.2382G>C (p.Gln794His) c.2376G>C (p.Gln792His) c.2349G>C (p.Gln783His) c.2343G>C (p.Gln781His) c.2337G>C (p.Gln779His) c.2286G>C (p.Gln762His) c.2205G>C (p.Gln735His) c.2308-246G>C (n.2308-246G>C) c.2127G>C (p.Gln709His) c.2208+1143G>C (n.2208+1143G>C) c.1347G>C (p.Gln449His) n.2623G>C | |
17 | g.39724803G= | CA2259228011 | ERBB2 | c.2385G= (p.Gln795=) c.2295G= (p.Gln765=) c.1557G= (p.Gln519=) c.2340G= (p.Gln780=) c.*2175G= (n.*2175G=) c.491G= n.3519G= n.2709G= c.2523G= (p.Gln841=) c.2478G= (p.Gln826=) c.2433G= (p.Gln811=) c.2502G= (p.Gln834=) c.2487G= (p.Gln829=) c.2466G= (p.Gln822=) c.2460G= (p.Gln820=) c.2415G= (p.Gln805=) c.2406G= (p.Gln802=) c.2382G= (p.Gln794=) c.2376G= (p.Gln792=) c.2349G= (p.Gln783=) c.2343G= (p.Gln781=) c.2337G= (p.Gln779=) c.2286G= (p.Gln762=) c.2205G= (p.Gln735=) c.2308-246G= (n.2308-246G=) c.2127G= (p.Gln709=) c.2208+1143G= (n.2208+1143G=) c.1347G= (p.Gln449=) n.2623G= | |
17 | g.39724803G>T | CA399303189 | ERBB2 | c.2385G>T (p.Gln795His) c.2295G>T (p.Gln765His) c.1557G>T (p.Gln519His) c.2340G>T (p.Gln780His) c.*2175G>T (n.*2175G>T) c.491G>T n.3519G>T n.2709G>T c.2523G>T (p.Gln841His) c.2478G>T (p.Gln826His) c.2433G>T (p.Gln811His) c.2502G>T (p.Gln834His) c.2487G>T (p.Gln829His) c.2466G>T (p.Gln822His) c.2460G>T (p.Gln820His) c.2415G>T (p.Gln805His) c.2406G>T (p.Gln802His) c.2382G>T (p.Gln794His) c.2376G>T (p.Gln792His) c.2349G>T (p.Gln783His) c.2343G>T (p.Gln781His) c.2337G>T (p.Gln779His) c.2286G>T (p.Gln762His) c.2205G>T (p.Gln735His) c.2308-246G>T (n.2308-246G>T) c.2127G>T (p.Gln709His) c.2208+1143G>T (n.2208+1143G>T) c.1347G>T (p.Gln449His) n.2623G>T | dbSNP |
17 | g.39724804C>A | CA399303194 | ERBB2 | c.2386C>A (p.Leu796Met) c.2296C>A (p.Leu766Met) c.1558C>A (p.Leu520Met) c.2341C>A (p.Leu781Met) c.*2176C>A (n.*2176C>A) c.492C>A n.3520C>A n.2710C>A c.2524C>A (p.Leu842Met) c.2479C>A (p.Leu827Met) c.2434C>A (p.Leu812Met) c.2503C>A (p.Leu835Met) c.2488C>A (p.Leu830Met) c.2467C>A (p.Leu823Met) c.2461C>A (p.Leu821Met) c.2416C>A (p.Leu806Met) c.2407C>A (p.Leu803Met) c.2383C>A (p.Leu795Met) c.2377C>A (p.Leu793Met) c.2350C>A (p.Leu784Met) c.2344C>A (p.Leu782Met) c.2338C>A (p.Leu780Met) c.2287C>A (p.Leu763Met) c.2206C>A (p.Leu736Met) c.2308-245C>A (n.2308-245C>A) c.2128C>A (p.Leu710Met) c.2208+1144C>A (n.2208+1144C>A) c.1348C>A (p.Leu450Met) n.2624C>A | dbSNP |
17 | g.39724804C= | CA2259228012 | ERBB2 | c.2386C= (p.Leu796=) c.2296C= (p.Leu766=) c.1558C= (p.Leu520=) c.2341C= (p.Leu781=) c.*2176C= (n.*2176C=) c.492C= n.3520C= n.2710C= c.2524C= (p.Leu842=) c.2479C= (p.Leu827=) c.2434C= (p.Leu812=) c.2503C= (p.Leu835=) c.2488C= (p.Leu830=) c.2467C= (p.Leu823=) c.2461C= (p.Leu821=) c.2416C= (p.Leu806=) c.2407C= (p.Leu803=) c.2383C= (p.Leu795=) c.2377C= (p.Leu793=) c.2350C= (p.Leu784=) c.2344C= (p.Leu782=) c.2338C= (p.Leu780=) c.2287C= (p.Leu763=) c.2206C= (p.Leu736=) c.2308-245C= (n.2308-245C=) c.2128C= (p.Leu710=) c.2208+1144C= (n.2208+1144C=) c.1348C= (p.Leu450=) n.2624C= | |
17 | g.39724804C>G | CA399303197 | ERBB2 | c.2386C>G (p.Leu796Val) c.2296C>G (p.Leu766Val) c.1558C>G (p.Leu520Val) c.2341C>G (p.Leu781Val) c.*2176C>G (n.*2176C>G) c.492C>G n.3520C>G n.2710C>G c.2524C>G (p.Leu842Val) c.2479C>G (p.Leu827Val) c.2434C>G (p.Leu812Val) c.2503C>G (p.Leu835Val) c.2488C>G (p.Leu830Val) c.2467C>G (p.Leu823Val) c.2461C>G (p.Leu821Val) c.2416C>G (p.Leu806Val) c.2407C>G (p.Leu803Val) c.2383C>G (p.Leu795Val) c.2377C>G (p.Leu793Val) c.2350C>G (p.Leu784Val) c.2344C>G (p.Leu782Val) c.2338C>G (p.Leu780Val) c.2287C>G (p.Leu763Val) c.2206C>G (p.Leu736Val) c.2308-245C>G (n.2308-245C>G) c.2128C>G (p.Leu710Val) c.2208+1144C>G (n.2208+1144C>G) c.1348C>G (p.Leu450Val) n.2624C>G | dbSNP |
17 | g.39724804C>T | CA499670888 | ERBB2 | c.2386C>T (p.Leu796=) c.2296C>T (p.Leu766=) c.1558C>T (p.Leu520=) c.2341C>T (p.Leu781=) c.*2176C>T (n.*2176C>T) c.492C>T n.3520C>T n.2710C>T c.2524C>T (p.Leu842=) c.2479C>T (p.Leu827=) c.2434C>T (p.Leu812=) c.2503C>T (p.Leu835=) c.2488C>T (p.Leu830=) c.2467C>T (p.Leu823=) c.2461C>T (p.Leu821=) c.2416C>T (p.Leu806=) c.2407C>T (p.Leu803=) c.2383C>T (p.Leu795=) c.2377C>T (p.Leu793=) c.2350C>T (p.Leu784=) c.2344C>T (p.Leu782=) c.2338C>T (p.Leu780=) c.2287C>T (p.Leu763=) c.2206C>T (p.Leu736=) c.2308-245C>T (n.2308-245C>T) c.2128C>T (p.Leu710=) c.2208+1144C>T (n.2208+1144C>T) c.1348C>T (p.Leu450=) n.2624C>T | dbSNP |
17 | g.39724805T>A | CA399303200 | ERBB2 | c.2387T>A (p.Leu796Gln) c.2297T>A (p.Leu766Gln) c.1559T>A (p.Leu520Gln) c.2342T>A (p.Leu781Gln) c.*2177T>A (n.*2177T>A) c.493T>A n.3521T>A n.2711T>A c.2525T>A (p.Leu842Gln) c.2480T>A (p.Leu827Gln) c.2435T>A (p.Leu812Gln) c.2504T>A (p.Leu835Gln) c.2489T>A (p.Leu830Gln) c.2468T>A (p.Leu823Gln) c.2462T>A (p.Leu821Gln) c.2417T>A (p.Leu806Gln) c.2408T>A (p.Leu803Gln) c.2384T>A (p.Leu795Gln) c.2378T>A (p.Leu793Gln) c.2351T>A (p.Leu784Gln) c.2345T>A (p.Leu782Gln) c.2339T>A (p.Leu780Gln) c.2288T>A (p.Leu763Gln) c.2207T>A (p.Leu736Gln) c.2308-244T>A (n.2308-244T>A) c.2129T>A (p.Leu710Gln) c.2208+1145T>A (n.2208+1145T>A) c.1349T>A (p.Leu450Gln) n.2625T>A | |
17 | g.39724805T>C | CA399303202 | ERBB2 | c.2387T>C (p.Leu796Pro) c.2297T>C (p.Leu766Pro) c.1559T>C (p.Leu520Pro) c.2342T>C (p.Leu781Pro) c.*2177T>C (n.*2177T>C) c.493T>C n.3521T>C n.2711T>C c.2525T>C (p.Leu842Pro) c.2480T>C (p.Leu827Pro) c.2435T>C (p.Leu812Pro) c.2504T>C (p.Leu835Pro) c.2489T>C (p.Leu830Pro) c.2468T>C (p.Leu823Pro) c.2462T>C (p.Leu821Pro) c.2417T>C (p.Leu806Pro) c.2408T>C (p.Leu803Pro) c.2384T>C (p.Leu795Pro) c.2378T>C (p.Leu793Pro) c.2351T>C (p.Leu784Pro) c.2345T>C (p.Leu782Pro) c.2339T>C (p.Leu780Pro) c.2288T>C (p.Leu763Pro) c.2207T>C (p.Leu736Pro) c.2308-244T>C (n.2308-244T>C) c.2129T>C (p.Leu710Pro) c.2208+1145T>C (n.2208+1145T>C) c.1349T>C (p.Leu450Pro) n.2625T>C | |
17 | g.39724805T>G | CA399303204 | ERBB2 | c.2387T>G (p.Leu796Arg) c.2297T>G (p.Leu766Arg) c.1559T>G (p.Leu520Arg) c.2342T>G (p.Leu781Arg) c.*2177T>G (n.*2177T>G) c.493T>G n.3521T>G n.2711T>G c.2525T>G (p.Leu842Arg) c.2480T>G (p.Leu827Arg) c.2435T>G (p.Leu812Arg) c.2504T>G (p.Leu835Arg) c.2489T>G (p.Leu830Arg) c.2468T>G (p.Leu823Arg) c.2462T>G (p.Leu821Arg) c.2417T>G (p.Leu806Arg) c.2408T>G (p.Leu803Arg) c.2384T>G (p.Leu795Arg) c.2378T>G (p.Leu793Arg) c.2351T>G (p.Leu784Arg) c.2345T>G (p.Leu782Arg) c.2339T>G (p.Leu780Arg) c.2288T>G (p.Leu763Arg) c.2207T>G (p.Leu736Arg) c.2308-244T>G (n.2308-244T>G) c.2129T>G (p.Leu710Arg) c.2208+1145T>G (n.2208+1145T>G) c.1349T>G (p.Leu450Arg) n.2625T>G | |
17 | g.39724806G>A | CA499670889 | ERBB2 | c.2388G>A (p.Leu796=) c.2298G>A (p.Leu766=) c.1560G>A (p.Leu520=) c.2343G>A (p.Leu781=) c.*2178G>A (n.*2178G>A) c.494G>A n.3522G>A n.2712G>A c.2526G>A (p.Leu842=) c.2481G>A (p.Leu827=) c.2436G>A (p.Leu812=) c.2505G>A (p.Leu835=) c.2490G>A (p.Leu830=) c.2469G>A (p.Leu823=) c.2463G>A (p.Leu821=) c.2418G>A (p.Leu806=) c.2409G>A (p.Leu803=) c.2385G>A (p.Leu795=) c.2379G>A (p.Leu793=) c.2352G>A (p.Leu784=) c.2346G>A (p.Leu782=) c.2340G>A (p.Leu780=) c.2289G>A (p.Leu763=) c.2208G>A (p.Leu736=) c.2308-243G>A (n.2308-243G>A) c.2130G>A (p.Leu710=) c.2208+1146G>A (n.2208+1146G>A) c.1350G>A (p.Leu450=) n.2626G>A | dbSNP |
17 | g.39724806G>C | CA499670890 | ERBB2 | c.2388G>C (p.Leu796=) c.2298G>C (p.Leu766=) c.1560G>C (p.Leu520=) c.2343G>C (p.Leu781=) c.*2178G>C (n.*2178G>C) c.494G>C n.3522G>C n.2712G>C c.2526G>C (p.Leu842=) c.2481G>C (p.Leu827=) c.2436G>C (p.Leu812=) c.2505G>C (p.Leu835=) c.2490G>C (p.Leu830=) c.2469G>C (p.Leu823=) c.2463G>C (p.Leu821=) c.2418G>C (p.Leu806=) c.2409G>C (p.Leu803=) c.2385G>C (p.Leu795=) c.2379G>C (p.Leu793=) c.2352G>C (p.Leu784=) c.2346G>C (p.Leu782=) c.2340G>C (p.Leu780=) c.2289G>C (p.Leu763=) c.2208G>C (p.Leu736=) c.2308-243G>C (n.2308-243G>C) c.2130G>C (p.Leu710=) c.2208+1146G>C (n.2208+1146G>C) c.1350G>C (p.Leu450=) n.2626G>C | dbSNP |
17 | g.39724806G>T | CA499670891 | ERBB2 | c.2388G>T (p.Leu796=) c.2298G>T (p.Leu766=) c.1560G>T (p.Leu520=) c.2343G>T (p.Leu781=) c.*2178G>T (n.*2178G>T) c.494G>T n.3522G>T n.2712G>T c.2526G>T (p.Leu842=) c.2481G>T (p.Leu827=) c.2436G>T (p.Leu812=) c.2505G>T (p.Leu835=) c.2490G>T (p.Leu830=) c.2469G>T (p.Leu823=) c.2463G>T (p.Leu821=) c.2418G>T (p.Leu806=) c.2409G>T (p.Leu803=) c.2385G>T (p.Leu795=) c.2379G>T (p.Leu793=) c.2352G>T (p.Leu784=) c.2346G>T (p.Leu782=) c.2340G>T (p.Leu780=) c.2289G>T (p.Leu763=) c.2208G>T (p.Leu736=) c.2308-243G>T (n.2308-243G>T) c.2130G>T (p.Leu710=) c.2208+1146G>T (n.2208+1146G>T) c.1350G>T (p.Leu450=) n.2626G>T | dbSNP |
17 | g.39724807G>A | CA399303214 | ERBB2 | c.2389G>A (p.Val797Met) c.2299G>A (p.Val767Met) c.1561G>A (p.Val521Met) c.2344G>A (p.Val782Met) c.*2179G>A (n.*2179G>A) c.495G>A n.3523G>A n.2713G>A c.2527G>A (p.Val843Met) c.2482G>A (p.Val828Met) c.2437G>A (p.Val813Met) c.2506G>A (p.Val836Met) c.2491G>A (p.Val831Met) c.2470G>A (p.Val824Met) c.2464G>A (p.Val822Met) c.2419G>A (p.Val807Met) c.2410G>A (p.Val804Met) c.2386G>A (p.Val796Met) c.2380G>A (p.Val794Met) c.2353G>A (p.Val785Met) c.2347G>A (p.Val783Met) c.2341G>A (p.Val781Met) c.2290G>A (p.Val764Met) c.2209G>A (p.Val737Met) c.2308-242G>A (n.2308-242G>A) c.2131G>A (p.Val711Met) c.2208+1147G>A (n.2208+1147G>A) c.1351G>A (p.Val451Met) n.2627G>A | dbSNP COSMIC |
17 | g.39724807G>C | CA399303212 | ERBB2 | c.2389G>C (p.Val797Leu) c.2299G>C (p.Val767Leu) c.1561G>C (p.Val521Leu) c.2344G>C (p.Val782Leu) c.*2179G>C (n.*2179G>C) c.495G>C n.3523G>C n.2713G>C c.2527G>C (p.Val843Leu) c.2482G>C (p.Val828Leu) c.2437G>C (p.Val813Leu) c.2506G>C (p.Val836Leu) c.2491G>C (p.Val831Leu) c.2470G>C (p.Val824Leu) c.2464G>C (p.Val822Leu) c.2419G>C (p.Val807Leu) c.2410G>C (p.Val804Leu) c.2386G>C (p.Val796Leu) c.2380G>C (p.Val794Leu) c.2353G>C (p.Val785Leu) c.2347G>C (p.Val783Leu) c.2341G>C (p.Val781Leu) c.2290G>C (p.Val764Leu) c.2209G>C (p.Val737Leu) c.2308-242G>C (n.2308-242G>C) c.2131G>C (p.Val711Leu) c.2208+1147G>C (n.2208+1147G>C) c.1351G>C (p.Val451Leu) n.2627G>C | dbSNP |
17 | g.39724807G>T | CA399303209 | ERBB2 | c.2389G>T (p.Val797Leu) c.2299G>T (p.Val767Leu) c.1561G>T (p.Val521Leu) c.2344G>T (p.Val782Leu) c.*2179G>T (n.*2179G>T) c.495G>T n.3523G>T n.2713G>T c.2527G>T (p.Val843Leu) c.2482G>T (p.Val828Leu) c.2437G>T (p.Val813Leu) c.2506G>T (p.Val836Leu) c.2491G>T (p.Val831Leu) c.2470G>T (p.Val824Leu) c.2464G>T (p.Val822Leu) c.2419G>T (p.Val807Leu) c.2410G>T (p.Val804Leu) c.2386G>T (p.Val796Leu) c.2380G>T (p.Val794Leu) c.2353G>T (p.Val785Leu) c.2347G>T (p.Val783Leu) c.2341G>T (p.Val781Leu) c.2290G>T (p.Val764Leu) c.2209G>T (p.Val737Leu) c.2308-242G>T (n.2308-242G>T) c.2131G>T (p.Val711Leu) c.2208+1147G>T (n.2208+1147G>T) c.1351G>T (p.Val451Leu) n.2627G>T | dbSNP |
17 | g.39724807_39724819delinsGTGACACAGCTTA | CA2259228013 | ERBB2 | c.2389_2401delinsGTGACACAGCTTA (p.Val797=) c.2299_2311delinsGTGACACAGCTTA (p.Val767=) c.1561_1573delinsGTGACACAGCTTA (p.Val521=) c.2344_2356delinsGTGACACAGCTTA (p.Val782=) c.*2179_*2191delinsGTGACACAGCTTA (n.*2179_*2191delinsGTGACACAGCTTA) c.495_507delinsGTGACACAGCTTA n.3523_3535delinsGTGACACAGCTTA n.2713_2725delinsGTGACACAGCTTA c.2527_2539delinsGTGACACAGCTTA (p.Val843=) c.2482_2494delinsGTGACACAGCTTA (p.Val828=) c.2437_2449delinsGTGACACAGCTTA (p.Val813=) c.2506_2518delinsGTGACACAGCTTA (p.Val836=) c.2491_2503delinsGTGACACAGCTTA (p.Val831=) c.2470_2482delinsGTGACACAGCTTA (p.Val824=) c.2464_2476delinsGTGACACAGCTTA (p.Val822=) c.2419_2431delinsGTGACACAGCTTA (p.Val807=) c.2410_2422delinsGTGACACAGCTTA (p.Val804=) c.2386_2398delinsGTGACACAGCTTA (p.Val796=) c.2380_2392delinsGTGACACAGCTTA (p.Val794=) c.2353_2365delinsGTGACACAGCTTA (p.Val785=) c.2347_2359delinsGTGACACAGCTTA (p.Val783=) c.2341_2353delinsGTGACACAGCTTA (p.Val781=) c.2290_2302delinsGTGACACAGCTTA (p.Val764=) c.2209_2221delinsGTGACACAGCTTA (p.Val737=) c.2308-242_2308-230delinsGTGACACAGCTTA (n.2308-242_2308-230delinsGTGACACAGCTTA) c.2131_2143delinsGTGACACAGCTTA (p.Val711=) c.2208+1147_2208+1159delinsGTGACACAGCTTA (n.2208+1147_2208+1159delinsGTGACACAGCTTA) c.1351_1363delinsGTGACACAGCTTA (p.Val451=) n.2627_2639delinsGTGACACAGCTTA | |
17 | g.39724808T>A | CA399303218 | ERBB2 | c.2390T>A (p.Val797Glu) c.2300T>A (p.Val767Glu) c.1562T>A (p.Val521Glu) c.2345T>A (p.Val782Glu) c.*2180T>A (n.*2180T>A) c.496T>A n.3524T>A n.2714T>A c.2528T>A (p.Val843Glu) c.2483T>A (p.Val828Glu) c.2438T>A (p.Val813Glu) c.2507T>A (p.Val836Glu) c.2492T>A (p.Val831Glu) c.2471T>A (p.Val824Glu) c.2465T>A (p.Val822Glu) c.2420T>A (p.Val807Glu) c.2411T>A (p.Val804Glu) c.2387T>A (p.Val796Glu) c.2381T>A (p.Val794Glu) c.2354T>A (p.Val785Glu) c.2348T>A (p.Val783Glu) c.2342T>A (p.Val781Glu) c.2291T>A (p.Val764Glu) c.2210T>A (p.Val737Glu) c.2308-241T>A (n.2308-241T>A) c.2132T>A (p.Val711Glu) c.2208+1148T>A (n.2208+1148T>A) c.1352T>A (p.Val451Glu) n.2628T>A | dbSNP |
17 | g.39724808T>C | CA399303221 | ERBB2 | c.2390T>C (p.Val797Ala) c.2300T>C (p.Val767Ala) c.1562T>C (p.Val521Ala) c.2345T>C (p.Val782Ala) c.*2180T>C (n.*2180T>C) c.496T>C n.3524T>C n.2714T>C c.2528T>C (p.Val843Ala) c.2483T>C (p.Val828Ala) c.2438T>C (p.Val813Ala) c.2507T>C (p.Val836Ala) c.2492T>C (p.Val831Ala) c.2471T>C (p.Val824Ala) c.2465T>C (p.Val822Ala) c.2420T>C (p.Val807Ala) c.2411T>C (p.Val804Ala) c.2387T>C (p.Val796Ala) c.2381T>C (p.Val794Ala) c.2354T>C (p.Val785Ala) c.2348T>C (p.Val783Ala) c.2342T>C (p.Val781Ala) c.2291T>C (p.Val764Ala) c.2210T>C (p.Val737Ala) c.2308-241T>C (n.2308-241T>C) c.2132T>C (p.Val711Ala) c.2208+1148T>C (n.2208+1148T>C) c.1352T>C (p.Val451Ala) n.2628T>C | dbSNP COSMIC COSMIC |
17 | g.39724808T>G | CA399303223 | ERBB2 | c.2390T>G (p.Val797Gly) c.2300T>G (p.Val767Gly) c.1562T>G (p.Val521Gly) c.2345T>G (p.Val782Gly) c.*2180T>G (n.*2180T>G) c.496T>G n.3524T>G n.2714T>G c.2528T>G (p.Val843Gly) c.2483T>G (p.Val828Gly) c.2438T>G (p.Val813Gly) c.2507T>G (p.Val836Gly) c.2492T>G (p.Val831Gly) c.2471T>G (p.Val824Gly) c.2465T>G (p.Val822Gly) c.2420T>G (p.Val807Gly) c.2411T>G (p.Val804Gly) c.2387T>G (p.Val796Gly) c.2381T>G (p.Val794Gly) c.2354T>G (p.Val785Gly) c.2348T>G (p.Val783Gly) c.2342T>G (p.Val781Gly) c.2291T>G (p.Val764Gly) c.2210T>G (p.Val737Gly) c.2308-241T>G (n.2308-241T>G) c.2132T>G (p.Val711Gly) c.2208+1148T>G (n.2208+1148T>G) c.1352T>G (p.Val451Gly) n.2628T>G | dbSNP |
17 | g.39724810_39724821del | CA8534291 | ERBB2 | c.2392_2403del (p.Thr798_Met801del) c.2302_2313del (p.Thr768_Met771del) c.1564_1575del (p.Thr522_Met525del) c.2347_2358del (p.Thr783_Met786del) c.*2182_*2193del (n.*2182_*2193del) c.498_509del n.3526_3537del n.2716_2727del c.2530_2541del (p.Thr844_Met847del) c.2485_2496del (p.Thr829_Met832del) c.2440_2451del (p.Thr814_Met817del) c.2509_2520del (p.Thr837_Met840del) c.2494_2505del (p.Thr832_Met835del) c.2473_2484del (p.Thr825_Met828del) c.2467_2478del (p.Thr823_Met826del) c.2422_2433del (p.Thr808_Met811del) c.2413_2424del (p.Thr805_Met808del) c.2389_2400del (p.Thr797_Met800del) c.2383_2394del (p.Thr795_Met798del) c.2356_2367del (p.Thr786_Met789del) c.2350_2361del (p.Thr784_Met787del) c.2344_2355del (p.Thr782_Met785del) c.2293_2304del (p.Thr765_Met768del) c.2212_2223del (p.Thr738_Met741del) c.2308-239_2308-228del (n.2308-239_2308-228del) c.2134_2145del (p.Thr712_Met715del) c.2208+1150_2208+1161del (n.2208+1150_2208+1161del) c.1354_1365del (p.Thr452_Met455del) n.2630_2641del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724809G>A | CA8534292 | ERBB2 | c.2391G>A (p.Val797=) c.2301G>A (p.Val767=) c.1563G>A (p.Val521=) c.2346G>A (p.Val782=) c.*2181G>A (n.*2181G>A) c.497G>A n.3525G>A n.2715G>A c.2529G>A (p.Val843=) c.2484G>A (p.Val828=) c.2439G>A (p.Val813=) c.2508G>A (p.Val836=) c.2493G>A (p.Val831=) c.2472G>A (p.Val824=) c.2466G>A (p.Val822=) c.2421G>A (p.Val807=) c.2412G>A (p.Val804=) c.2388G>A (p.Val796=) c.2382G>A (p.Val794=) c.2355G>A (p.Val785=) c.2349G>A (p.Val783=) c.2343G>A (p.Val781=) c.2292G>A (p.Val764=) c.2211G>A (p.Val737=) c.2308-240G>A (n.2308-240G>A) c.2133G>A (p.Val711=) c.2208+1149G>A (n.2208+1149G>A) c.1353G>A (p.Val451=) n.2629G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724809G>C | CA499670892 | ERBB2 | c.2391G>C (p.Val797=) c.2301G>C (p.Val767=) c.1563G>C (p.Val521=) c.2346G>C (p.Val782=) c.*2181G>C (n.*2181G>C) c.497G>C n.3525G>C n.2715G>C c.2529G>C (p.Val843=) c.2484G>C (p.Val828=) c.2439G>C (p.Val813=) c.2508G>C (p.Val836=) c.2493G>C (p.Val831=) c.2472G>C (p.Val824=) c.2466G>C (p.Val822=) c.2421G>C (p.Val807=) c.2412G>C (p.Val804=) c.2388G>C (p.Val796=) c.2382G>C (p.Val794=) c.2355G>C (p.Val785=) c.2349G>C (p.Val783=) c.2343G>C (p.Val781=) c.2292G>C (p.Val764=) c.2211G>C (p.Val737=) c.2308-240G>C (n.2308-240G>C) c.2133G>C (p.Val711=) c.2208+1149G>C (n.2208+1149G>C) c.1353G>C (p.Val451=) n.2629G>C | |
17 | g.39724809G= | CA2259228014 | ERBB2 | c.2391G= (p.Val797=) c.2301G= (p.Val767=) c.1563G= (p.Val521=) c.2346G= (p.Val782=) c.*2181G= (n.*2181G=) c.497G= n.3525G= n.2715G= c.2529G= (p.Val843=) c.2484G= (p.Val828=) c.2439G= (p.Val813=) c.2508G= (p.Val836=) c.2493G= (p.Val831=) c.2472G= (p.Val824=) c.2466G= (p.Val822=) c.2421G= (p.Val807=) c.2412G= (p.Val804=) c.2388G= (p.Val796=) c.2382G= (p.Val794=) c.2355G= (p.Val785=) c.2349G= (p.Val783=) c.2343G= (p.Val781=) c.2292G= (p.Val764=) c.2211G= (p.Val737=) c.2308-240G= (n.2308-240G=) c.2133G= (p.Val711=) c.2208+1149G= (n.2208+1149G=) c.1353G= (p.Val451=) n.2629G= | |
17 | g.39724809G>T | CA499670893 | ERBB2 | c.2391G>T (p.Val797=) c.2301G>T (p.Val767=) c.1563G>T (p.Val521=) c.2346G>T (p.Val782=) c.*2181G>T (n.*2181G>T) c.497G>T n.3525G>T n.2715G>T c.2529G>T (p.Val843=) c.2484G>T (p.Val828=) c.2439G>T (p.Val813=) c.2508G>T (p.Val836=) c.2493G>T (p.Val831=) c.2472G>T (p.Val824=) c.2466G>T (p.Val822=) c.2421G>T (p.Val807=) c.2412G>T (p.Val804=) c.2388G>T (p.Val796=) c.2382G>T (p.Val794=) c.2355G>T (p.Val785=) c.2349G>T (p.Val783=) c.2343G>T (p.Val781=) c.2292G>T (p.Val764=) c.2211G>T (p.Val737=) c.2308-240G>T (n.2308-240G>T) c.2133G>T (p.Val711=) c.2208+1149G>T (n.2208+1149G>T) c.1353G>T (p.Val451=) n.2629G>T | |
17 | g.39724810A>C | CA399303233 | ERBB2 | c.2392A>C (p.Thr798Pro) c.2302A>C (p.Thr768Pro) c.1564A>C (p.Thr522Pro) c.2347A>C (p.Thr783Pro) c.*2182A>C (n.*2182A>C) c.498A>C n.3526A>C n.2716A>C c.2530A>C (p.Thr844Pro) c.2485A>C (p.Thr829Pro) c.2440A>C (p.Thr814Pro) c.2509A>C (p.Thr837Pro) c.2494A>C (p.Thr832Pro) c.2473A>C (p.Thr825Pro) c.2467A>C (p.Thr823Pro) c.2422A>C (p.Thr808Pro) c.2413A>C (p.Thr805Pro) c.2389A>C (p.Thr797Pro) c.2383A>C (p.Thr795Pro) c.2356A>C (p.Thr786Pro) c.2350A>C (p.Thr784Pro) c.2344A>C (p.Thr782Pro) c.2293A>C (p.Thr765Pro) c.2212A>C (p.Thr738Pro) c.2308-239A>C (n.2308-239A>C) c.2134A>C (p.Thr712Pro) c.2208+1150A>C (n.2208+1150A>C) c.1354A>C (p.Thr452Pro) n.2630A>C | dbSNP |
17 | g.39724810A>G | CA399303231 | ERBB2 | c.2392A>G (p.Thr798Ala) c.2302A>G (p.Thr768Ala) c.1564A>G (p.Thr522Ala) c.2347A>G (p.Thr783Ala) c.*2182A>G (n.*2182A>G) c.498A>G n.3526A>G n.2716A>G c.2530A>G (p.Thr844Ala) c.2485A>G (p.Thr829Ala) c.2440A>G (p.Thr814Ala) c.2509A>G (p.Thr837Ala) c.2494A>G (p.Thr832Ala) c.2473A>G (p.Thr825Ala) c.2467A>G (p.Thr823Ala) c.2422A>G (p.Thr808Ala) c.2413A>G (p.Thr805Ala) c.2389A>G (p.Thr797Ala) c.2383A>G (p.Thr795Ala) c.2356A>G (p.Thr786Ala) c.2350A>G (p.Thr784Ala) c.2344A>G (p.Thr782Ala) c.2293A>G (p.Thr765Ala) c.2212A>G (p.Thr738Ala) c.2308-239A>G (n.2308-239A>G) c.2134A>G (p.Thr712Ala) c.2208+1150A>G (n.2208+1150A>G) c.1354A>G (p.Thr452Ala) n.2630A>G | dbSNP |
17 | g.39724810A>T | CA399303229 | ERBB2 | c.2392A>T (p.Thr798Ser) c.2302A>T (p.Thr768Ser) c.1564A>T (p.Thr522Ser) c.2347A>T (p.Thr783Ser) c.*2182A>T (n.*2182A>T) c.498A>T n.3526A>T n.2716A>T c.2530A>T (p.Thr844Ser) c.2485A>T (p.Thr829Ser) c.2440A>T (p.Thr814Ser) c.2509A>T (p.Thr837Ser) c.2494A>T (p.Thr832Ser) c.2473A>T (p.Thr825Ser) c.2467A>T (p.Thr823Ser) c.2422A>T (p.Thr808Ser) c.2413A>T (p.Thr805Ser) c.2389A>T (p.Thr797Ser) c.2383A>T (p.Thr795Ser) c.2356A>T (p.Thr786Ser) c.2350A>T (p.Thr784Ser) c.2344A>T (p.Thr782Ser) c.2293A>T (p.Thr765Ser) c.2212A>T (p.Thr738Ser) c.2308-239A>T (n.2308-239A>T) c.2134A>T (p.Thr712Ser) c.2208+1150A>T (n.2208+1150A>T) c.1354A>T (p.Thr452Ser) n.2630A>T | dbSNP |
17 | g.39724811C>A | CA399303235 | ERBB2 | c.2393C>A (p.Thr798Lys) c.2303C>A (p.Thr768Lys) c.1565C>A (p.Thr522Lys) c.2348C>A (p.Thr783Lys) c.*2183C>A (n.*2183C>A) c.499C>A n.3527C>A n.2717C>A c.2531C>A (p.Thr844Lys) c.2486C>A (p.Thr829Lys) c.2441C>A (p.Thr814Lys) c.2510C>A (p.Thr837Lys) c.2495C>A (p.Thr832Lys) c.2474C>A (p.Thr825Lys) c.2468C>A (p.Thr823Lys) c.2423C>A (p.Thr808Lys) c.2414C>A (p.Thr805Lys) c.2390C>A (p.Thr797Lys) c.2384C>A (p.Thr795Lys) c.2357C>A (p.Thr786Lys) c.2351C>A (p.Thr784Lys) c.2345C>A (p.Thr782Lys) c.2294C>A (p.Thr765Lys) c.2213C>A (p.Thr738Lys) c.2308-238C>A (n.2308-238C>A) c.2135C>A (p.Thr712Lys) c.2208+1151C>A (n.2208+1151C>A) c.1355C>A (p.Thr452Lys) n.2631C>A | |
17 | g.39724811C>G | CA399303238 | ERBB2 | c.2393C>G (p.Thr798Arg) c.2303C>G (p.Thr768Arg) c.1565C>G (p.Thr522Arg) c.2348C>G (p.Thr783Arg) c.*2183C>G (n.*2183C>G) c.499C>G n.3527C>G n.2717C>G c.2531C>G (p.Thr844Arg) c.2486C>G (p.Thr829Arg) c.2441C>G (p.Thr814Arg) c.2510C>G (p.Thr837Arg) c.2495C>G (p.Thr832Arg) c.2474C>G (p.Thr825Arg) c.2468C>G (p.Thr823Arg) c.2423C>G (p.Thr808Arg) c.2414C>G (p.Thr805Arg) c.2390C>G (p.Thr797Arg) c.2384C>G (p.Thr795Arg) c.2357C>G (p.Thr786Arg) c.2351C>G (p.Thr784Arg) c.2345C>G (p.Thr782Arg) c.2294C>G (p.Thr765Arg) c.2213C>G (p.Thr738Arg) c.2308-238C>G (n.2308-238C>G) c.2135C>G (p.Thr712Arg) c.2208+1151C>G (n.2208+1151C>G) c.1355C>G (p.Thr452Arg) n.2631C>G | dbSNP |
17 | g.39724811C>T | CA399303242 | ERBB2 | c.2393C>T (p.Thr798Ile) c.2303C>T (p.Thr768Ile) c.1565C>T (p.Thr522Ile) c.2348C>T (p.Thr783Ile) c.*2183C>T (n.*2183C>T) c.499C>T n.3527C>T n.2717C>T c.2531C>T (p.Thr844Ile) c.2486C>T (p.Thr829Ile) c.2441C>T (p.Thr814Ile) c.2510C>T (p.Thr837Ile) c.2495C>T (p.Thr832Ile) c.2474C>T (p.Thr825Ile) c.2468C>T (p.Thr823Ile) c.2423C>T (p.Thr808Ile) c.2414C>T (p.Thr805Ile) c.2390C>T (p.Thr797Ile) c.2384C>T (p.Thr795Ile) c.2357C>T (p.Thr786Ile) c.2351C>T (p.Thr784Ile) c.2345C>T (p.Thr782Ile) c.2294C>T (p.Thr765Ile) c.2213C>T (p.Thr738Ile) c.2308-238C>T (n.2308-238C>T) c.2135C>T (p.Thr712Ile) c.2208+1151C>T (n.2208+1151C>T) c.1355C>T (p.Thr452Ile) n.2631C>T | dbSNP |
17 | g.39724811_39724812delinsTG | CA913012048 | ERBB2 | c.2393_2394delinsTG (p.Thr798Met) c.2303_2304delinsTG (p.Thr768Met) c.1565_1566delinsTG (p.Thr522Met) c.2348_2349delinsTG (p.Thr783Met) c.*2183_*2184delinsTG (n.*2183_*2184delinsTG) c.499_500delinsTG n.3527_3528delinsTG n.2717_2718delinsTG c.2531_2532delinsTG (p.Thr844Met) c.2486_2487delinsTG (p.Thr829Met) c.2441_2442delinsTG (p.Thr814Met) c.2510_2511delinsTG (p.Thr837Met) c.2495_2496delinsTG (p.Thr832Met) c.2474_2475delinsTG (p.Thr825Met) c.2468_2469delinsTG (p.Thr823Met) c.2423_2424delinsTG (p.Thr808Met) c.2414_2415delinsTG (p.Thr805Met) c.2390_2391delinsTG (p.Thr797Met) c.2384_2385delinsTG (p.Thr795Met) c.2357_2358delinsTG (p.Thr786Met) c.2351_2352delinsTG (p.Thr784Met) c.2345_2346delinsTG (p.Thr782Met) c.2294_2295delinsTG (p.Thr765Met) c.2213_2214delinsTG (p.Thr738Met) c.2308-238_2308-237delinsTG (n.2308-238_2308-237delinsTG) c.2135_2136delinsTG (p.Thr712Met) c.2208+1151_2208+1152delinsTG (n.2208+1151_2208+1152delinsTG) c.1355_1356delinsTG (p.Thr452Met) n.2631_2632delinsTG | |
17 | g.39724812A>C | CA499670894 | ERBB2 | c.2394A>C (p.Thr798=) c.2304A>C (p.Thr768=) c.1566A>C (p.Thr522=) c.2349A>C (p.Thr783=) c.*2184A>C (n.*2184A>C) c.500A>C n.3528A>C n.2718A>C c.2532A>C (p.Thr844=) c.2487A>C (p.Thr829=) c.2442A>C (p.Thr814=) c.2511A>C (p.Thr837=) c.2496A>C (p.Thr832=) c.2475A>C (p.Thr825=) c.2469A>C (p.Thr823=) c.2424A>C (p.Thr808=) c.2415A>C (p.Thr805=) c.2391A>C (p.Thr797=) c.2385A>C (p.Thr795=) c.2358A>C (p.Thr786=) c.2352A>C (p.Thr784=) c.2346A>C (p.Thr782=) c.2295A>C (p.Thr765=) c.2214A>C (p.Thr738=) c.2308-237A>C (n.2308-237A>C) c.2136A>C (p.Thr712=) c.2208+1152A>C (n.2208+1152A>C) c.1356A>C (p.Thr452=) n.2632A>C | dbSNP |
17 | g.39724812A>G | CA499670895 | ERBB2 | c.2394A>G (p.Thr798=) c.2304A>G (p.Thr768=) c.1566A>G (p.Thr522=) c.2349A>G (p.Thr783=) c.*2184A>G (n.*2184A>G) c.500A>G n.3528A>G n.2718A>G c.2532A>G (p.Thr844=) c.2487A>G (p.Thr829=) c.2442A>G (p.Thr814=) c.2511A>G (p.Thr837=) c.2496A>G (p.Thr832=) c.2475A>G (p.Thr825=) c.2469A>G (p.Thr823=) c.2424A>G (p.Thr808=) c.2415A>G (p.Thr805=) c.2391A>G (p.Thr797=) c.2385A>G (p.Thr795=) c.2358A>G (p.Thr786=) c.2352A>G (p.Thr784=) c.2346A>G (p.Thr782=) c.2295A>G (p.Thr765=) c.2214A>G (p.Thr738=) c.2308-237A>G (n.2308-237A>G) c.2136A>G (p.Thr712=) c.2208+1152A>G (n.2208+1152A>G) c.1356A>G (p.Thr452=) n.2632A>G | dbSNP gnomAD v4 |
17 | g.39724812A>T | CA499670896 | ERBB2 | c.2394A>T (p.Thr798=) c.2304A>T (p.Thr768=) c.1566A>T (p.Thr522=) c.2349A>T (p.Thr783=) c.*2184A>T (n.*2184A>T) c.500A>T n.3528A>T n.2718A>T c.2532A>T (p.Thr844=) c.2487A>T (p.Thr829=) c.2442A>T (p.Thr814=) c.2511A>T (p.Thr837=) c.2496A>T (p.Thr832=) c.2475A>T (p.Thr825=) c.2469A>T (p.Thr823=) c.2424A>T (p.Thr808=) c.2415A>T (p.Thr805=) c.2391A>T (p.Thr797=) c.2385A>T (p.Thr795=) c.2358A>T (p.Thr786=) c.2352A>T (p.Thr784=) c.2346A>T (p.Thr782=) c.2295A>T (p.Thr765=) c.2214A>T (p.Thr738=) c.2308-237A>T (n.2308-237A>T) c.2136A>T (p.Thr712=) c.2208+1152A>T (n.2208+1152A>T) c.1356A>T (p.Thr452=) n.2632A>T | dbSNP |
17 | g.39724813C>A | CA399303245 | ERBB2 | c.2395C>A (p.Gln799Lys) c.2305C>A (p.Gln769Lys) c.1567C>A (p.Gln523Lys) c.2350C>A (p.Gln784Lys) c.*2185C>A (n.*2185C>A) c.501C>A n.3529C>A n.2719C>A c.2533C>A (p.Gln845Lys) c.2488C>A (p.Gln830Lys) c.2443C>A (p.Gln815Lys) c.2512C>A (p.Gln838Lys) c.2497C>A (p.Gln833Lys) c.2476C>A (p.Gln826Lys) c.2470C>A (p.Gln824Lys) c.2425C>A (p.Gln809Lys) c.2416C>A (p.Gln806Lys) c.2392C>A (p.Gln798Lys) c.2386C>A (p.Gln796Lys) c.2359C>A (p.Gln787Lys) c.2353C>A (p.Gln785Lys) c.2347C>A (p.Gln783Lys) c.2296C>A (p.Gln766Lys) c.2215C>A (p.Gln739Lys) c.2308-236C>A (n.2308-236C>A) c.2137C>A (p.Gln713Lys) c.2208+1153C>A (n.2208+1153C>A) c.1357C>A (p.Gln453Lys) n.2633C>A | |
17 | g.39724813C>G | CA399303248 | ERBB2 | c.2395C>G (p.Gln799Glu) c.2305C>G (p.Gln769Glu) c.1567C>G (p.Gln523Glu) c.2350C>G (p.Gln784Glu) c.*2185C>G (n.*2185C>G) c.501C>G n.3529C>G n.2719C>G c.2533C>G (p.Gln845Glu) c.2488C>G (p.Gln830Glu) c.2443C>G (p.Gln815Glu) c.2512C>G (p.Gln838Glu) c.2497C>G (p.Gln833Glu) c.2476C>G (p.Gln826Glu) c.2470C>G (p.Gln824Glu) c.2425C>G (p.Gln809Glu) c.2416C>G (p.Gln806Glu) c.2392C>G (p.Gln798Glu) c.2386C>G (p.Gln796Glu) c.2359C>G (p.Gln787Glu) c.2353C>G (p.Gln785Glu) c.2347C>G (p.Gln783Glu) c.2296C>G (p.Gln766Glu) c.2215C>G (p.Gln739Glu) c.2308-236C>G (n.2308-236C>G) c.2137C>G (p.Gln713Glu) c.2208+1153C>G (n.2208+1153C>G) c.1357C>G (p.Gln453Glu) n.2633C>G | |
17 | g.39724813C>T | CA399303251 | ERBB2 | c.2395C>T (p.Gln799Ter) c.2305C>T (p.Gln769Ter) c.1567C>T (p.Gln523Ter) c.2350C>T (p.Gln784Ter) c.*2185C>T (n.*2185C>T) c.501C>T n.3529C>T n.2719C>T c.2533C>T (p.Gln845Ter) c.2488C>T (p.Gln830Ter) c.2443C>T (p.Gln815Ter) c.2512C>T (p.Gln838Ter) c.2497C>T (p.Gln833Ter) c.2476C>T (p.Gln826Ter) c.2470C>T (p.Gln824Ter) c.2425C>T (p.Gln809Ter) c.2416C>T (p.Gln806Ter) c.2392C>T (p.Gln798Ter) c.2386C>T (p.Gln796Ter) c.2359C>T (p.Gln787Ter) c.2353C>T (p.Gln785Ter) c.2347C>T (p.Gln783Ter) c.2296C>T (p.Gln766Ter) c.2215C>T (p.Gln739Ter) c.2308-236C>T (n.2308-236C>T) c.2137C>T (p.Gln713Ter) c.2208+1153C>T (n.2208+1153C>T) c.1357C>T (p.Gln453Ter) n.2633C>T | |
17 | g.39724814A>C | CA399303262 | ERBB2 | c.2396A>C (p.Gln799Pro) c.2306A>C (p.Gln769Pro) c.1568A>C (p.Gln523Pro) c.2351A>C (p.Gln784Pro) c.*2186A>C (n.*2186A>C) c.502A>C n.3530A>C n.2720A>C c.2534A>C (p.Gln845Pro) c.2489A>C (p.Gln830Pro) c.2444A>C (p.Gln815Pro) c.2513A>C (p.Gln838Pro) c.2498A>C (p.Gln833Pro) c.2477A>C (p.Gln826Pro) c.2471A>C (p.Gln824Pro) c.2426A>C (p.Gln809Pro) c.2417A>C (p.Gln806Pro) c.2393A>C (p.Gln798Pro) c.2387A>C (p.Gln796Pro) c.2360A>C (p.Gln787Pro) c.2354A>C (p.Gln785Pro) c.2348A>C (p.Gln783Pro) c.2297A>C (p.Gln766Pro) c.2216A>C (p.Gln739Pro) c.2308-235A>C (n.2308-235A>C) c.2138A>C (p.Gln713Pro) c.2208+1154A>C (n.2208+1154A>C) c.1358A>C (p.Gln453Pro) n.2634A>C | COSMIC |
17 | g.39724814A>G | CA399303256 | ERBB2 | c.2396A>G (p.Gln799Arg) c.2306A>G (p.Gln769Arg) c.1568A>G (p.Gln523Arg) c.2351A>G (p.Gln784Arg) c.*2186A>G (n.*2186A>G) c.502A>G n.3530A>G n.2720A>G c.2534A>G (p.Gln845Arg) c.2489A>G (p.Gln830Arg) c.2444A>G (p.Gln815Arg) c.2513A>G (p.Gln838Arg) c.2498A>G (p.Gln833Arg) c.2477A>G (p.Gln826Arg) c.2471A>G (p.Gln824Arg) c.2426A>G (p.Gln809Arg) c.2417A>G (p.Gln806Arg) c.2393A>G (p.Gln798Arg) c.2387A>G (p.Gln796Arg) c.2360A>G (p.Gln787Arg) c.2354A>G (p.Gln785Arg) c.2348A>G (p.Gln783Arg) c.2297A>G (p.Gln766Arg) c.2216A>G (p.Gln739Arg) c.2308-235A>G (n.2308-235A>G) c.2138A>G (p.Gln713Arg) c.2208+1154A>G (n.2208+1154A>G) c.1358A>G (p.Gln453Arg) n.2634A>G | dbSNP |
17 | g.39724814A>T | CA399303258 | ERBB2 | c.2396A>T (p.Gln799Leu) c.2306A>T (p.Gln769Leu) c.1568A>T (p.Gln523Leu) c.2351A>T (p.Gln784Leu) c.*2186A>T (n.*2186A>T) c.502A>T n.3530A>T n.2720A>T c.2534A>T (p.Gln845Leu) c.2489A>T (p.Gln830Leu) c.2444A>T (p.Gln815Leu) c.2513A>T (p.Gln838Leu) c.2498A>T (p.Gln833Leu) c.2477A>T (p.Gln826Leu) c.2471A>T (p.Gln824Leu) c.2426A>T (p.Gln809Leu) c.2417A>T (p.Gln806Leu) c.2393A>T (p.Gln798Leu) c.2387A>T (p.Gln796Leu) c.2360A>T (p.Gln787Leu) c.2354A>T (p.Gln785Leu) c.2348A>T (p.Gln783Leu) c.2297A>T (p.Gln766Leu) c.2216A>T (p.Gln739Leu) c.2308-235A>T (n.2308-235A>T) c.2138A>T (p.Gln713Leu) c.2208+1154A>T (n.2208+1154A>T) c.1358A>T (p.Gln453Leu) n.2634A>T | dbSNP |
17 | g.39724815G>A | CA499670897 | ERBB2 | c.2397G>A (p.Gln799=) c.2307G>A (p.Gln769=) c.1569G>A (p.Gln523=) c.2352G>A (p.Gln784=) c.*2187G>A (n.*2187G>A) c.503G>A n.3531G>A n.2721G>A c.2535G>A (p.Gln845=) c.2490G>A (p.Gln830=) c.2445G>A (p.Gln815=) c.2514G>A (p.Gln838=) c.2499G>A (p.Gln833=) c.2478G>A (p.Gln826=) c.2472G>A (p.Gln824=) c.2427G>A (p.Gln809=) c.2418G>A (p.Gln806=) c.2394G>A (p.Gln798=) c.2388G>A (p.Gln796=) c.2361G>A (p.Gln787=) c.2355G>A (p.Gln785=) c.2349G>A (p.Gln783=) c.2298G>A (p.Gln766=) c.2217G>A (p.Gln739=) c.2308-234G>A (n.2308-234G>A) c.2139G>A (p.Gln713=) c.2208+1155G>A (n.2208+1155G>A) c.1359G>A (p.Gln453=) n.2635G>A | dbSNP |
17 | g.39724815G>C | CA399303264 | ERBB2 | c.2397G>C (p.Gln799His) c.2307G>C (p.Gln769His) c.1569G>C (p.Gln523His) c.2352G>C (p.Gln784His) c.*2187G>C (n.*2187G>C) c.503G>C n.3531G>C n.2721G>C c.2535G>C (p.Gln845His) c.2490G>C (p.Gln830His) c.2445G>C (p.Gln815His) c.2514G>C (p.Gln838His) c.2499G>C (p.Gln833His) c.2478G>C (p.Gln826His) c.2472G>C (p.Gln824His) c.2427G>C (p.Gln809His) c.2418G>C (p.Gln806His) c.2394G>C (p.Gln798His) c.2388G>C (p.Gln796His) c.2361G>C (p.Gln787His) c.2355G>C (p.Gln785His) c.2349G>C (p.Gln783His) c.2298G>C (p.Gln766His) c.2217G>C (p.Gln739His) c.2308-234G>C (n.2308-234G>C) c.2139G>C (p.Gln713His) c.2208+1155G>C (n.2208+1155G>C) c.1359G>C (p.Gln453His) n.2635G>C | dbSNP |
17 | g.39724815G>T | CA399303267 | ERBB2 | c.2397G>T (p.Gln799His) c.2307G>T (p.Gln769His) c.1569G>T (p.Gln523His) c.2352G>T (p.Gln784His) c.*2187G>T (n.*2187G>T) c.503G>T n.3531G>T n.2721G>T c.2535G>T (p.Gln845His) c.2490G>T (p.Gln830His) c.2445G>T (p.Gln815His) c.2514G>T (p.Gln838His) c.2499G>T (p.Gln833His) c.2478G>T (p.Gln826His) c.2472G>T (p.Gln824His) c.2427G>T (p.Gln809His) c.2418G>T (p.Gln806His) c.2394G>T (p.Gln798His) c.2388G>T (p.Gln796His) c.2361G>T (p.Gln787His) c.2355G>T (p.Gln785His) c.2349G>T (p.Gln783His) c.2298G>T (p.Gln766His) c.2217G>T (p.Gln739His) c.2308-234G>T (n.2308-234G>T) c.2139G>T (p.Gln713His) c.2208+1155G>T (n.2208+1155G>T) c.1359G>T (p.Gln453His) n.2635G>T | |
17 | g.39724816C>A | CA399303271 | ERBB2 | c.2398C>A (p.Leu800Ile) c.2308C>A (p.Leu770Ile) c.1570C>A (p.Leu524Ile) c.2353C>A (p.Leu785Ile) c.*2188C>A (n.*2188C>A) c.504C>A n.3532C>A n.2722C>A c.2536C>A (p.Leu846Ile) c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2515C>A (p.Leu839Ile) c.2500C>A (p.Leu834Ile) c.2479C>A (p.Leu827Ile) c.2473C>A (p.Leu825Ile) c.2428C>A (p.Leu810Ile) c.2419C>A (p.Leu807Ile) c.2395C>A (p.Leu799Ile) c.2389C>A (p.Leu797Ile) c.2362C>A (p.Leu788Ile) c.2356C>A (p.Leu786Ile) c.2350C>A (p.Leu784Ile) c.2299C>A (p.Leu767Ile) c.2218C>A (p.Leu740Ile) c.2308-233C>A (n.2308-233C>A) c.2140C>A (p.Leu714Ile) c.2208+1156C>A (n.2208+1156C>A) c.1360C>A (p.Leu454Ile) n.2636C>A | |
17 | g.39724816C>G | CA399303272 | ERBB2 | c.2398C>G (p.Leu800Val) c.2308C>G (p.Leu770Val) c.1570C>G (p.Leu524Val) c.2353C>G (p.Leu785Val) c.*2188C>G (n.*2188C>G) c.504C>G n.3532C>G n.2722C>G c.2536C>G (p.Leu846Val) c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2515C>G (p.Leu839Val) c.2500C>G (p.Leu834Val) c.2479C>G (p.Leu827Val) c.2473C>G (p.Leu825Val) c.2428C>G (p.Leu810Val) c.2419C>G (p.Leu807Val) c.2395C>G (p.Leu799Val) c.2389C>G (p.Leu797Val) c.2362C>G (p.Leu788Val) c.2356C>G (p.Leu786Val) c.2350C>G (p.Leu784Val) c.2299C>G (p.Leu767Val) c.2218C>G (p.Leu740Val) c.2308-233C>G (n.2308-233C>G) c.2140C>G (p.Leu714Val) c.2208+1156C>G (n.2208+1156C>G) c.1360C>G (p.Leu454Val) n.2636C>G | |
17 | g.39724816C>T | CA399303275 | ERBB2 | c.2398C>T (p.Leu800Phe) c.2308C>T (p.Leu770Phe) c.1570C>T (p.Leu524Phe) c.2353C>T (p.Leu785Phe) c.*2188C>T (n.*2188C>T) c.504C>T n.3532C>T n.2722C>T c.2536C>T (p.Leu846Phe) c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2515C>T (p.Leu839Phe) c.2500C>T (p.Leu834Phe) c.2479C>T (p.Leu827Phe) c.2473C>T (p.Leu825Phe) c.2428C>T (p.Leu810Phe) c.2419C>T (p.Leu807Phe) c.2395C>T (p.Leu799Phe) c.2389C>T (p.Leu797Phe) c.2362C>T (p.Leu788Phe) c.2356C>T (p.Leu786Phe) c.2350C>T (p.Leu784Phe) c.2299C>T (p.Leu767Phe) c.2218C>T (p.Leu740Phe) c.2308-233C>T (n.2308-233C>T) c.2140C>T (p.Leu714Phe) c.2208+1156C>T (n.2208+1156C>T) c.1360C>T (p.Leu454Phe) n.2636C>T | ClinVar |
17 | g.39724817T>A | CA399303279 | ERBB2 | c.2399T>A (p.Leu800His) c.2309T>A (p.Leu770His) c.1571T>A (p.Leu524His) c.2354T>A (p.Leu785His) c.*2189T>A (n.*2189T>A) c.505T>A n.3533T>A n.2723T>A c.2537T>A (p.Leu846His) c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2516T>A (p.Leu839His) c.2501T>A (p.Leu834His) c.2480T>A (p.Leu827His) c.2474T>A (p.Leu825His) c.2429T>A (p.Leu810His) c.2420T>A (p.Leu807His) c.2396T>A (p.Leu799His) c.2390T>A (p.Leu797His) c.2363T>A (p.Leu788His) c.2357T>A (p.Leu786His) c.2351T>A (p.Leu784His) c.2300T>A (p.Leu767His) c.2219T>A (p.Leu740His) c.2308-232T>A (n.2308-232T>A) c.2141T>A (p.Leu714His) c.2208+1157T>A (n.2208+1157T>A) c.1361T>A (p.Leu454His) n.2637T>A | dbSNP |
17 | g.39724817T>C | CA399303281 | ERBB2 | c.2399T>C (p.Leu800Pro) c.2309T>C (p.Leu770Pro) c.1571T>C (p.Leu524Pro) c.2354T>C (p.Leu785Pro) c.*2189T>C (n.*2189T>C) c.505T>C n.3533T>C n.2723T>C c.2537T>C (p.Leu846Pro) c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2516T>C (p.Leu839Pro) c.2501T>C (p.Leu834Pro) c.2480T>C (p.Leu827Pro) c.2474T>C (p.Leu825Pro) c.2429T>C (p.Leu810Pro) c.2420T>C (p.Leu807Pro) c.2396T>C (p.Leu799Pro) c.2390T>C (p.Leu797Pro) c.2363T>C (p.Leu788Pro) c.2357T>C (p.Leu786Pro) c.2351T>C (p.Leu784Pro) c.2300T>C (p.Leu767Pro) c.2219T>C (p.Leu740Pro) c.2308-232T>C (n.2308-232T>C) c.2141T>C (p.Leu714Pro) c.2208+1157T>C (n.2208+1157T>C) c.1361T>C (p.Leu454Pro) n.2637T>C | dbSNP |
17 | g.39724817T>G | CA399303283 | ERBB2 | c.2399T>G (p.Leu800Arg) c.2309T>G (p.Leu770Arg) c.1571T>G (p.Leu524Arg) c.2354T>G (p.Leu785Arg) c.*2189T>G (n.*2189T>G) c.505T>G n.3533T>G n.2723T>G c.2537T>G (p.Leu846Arg) c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2516T>G (p.Leu839Arg) c.2501T>G (p.Leu834Arg) c.2480T>G (p.Leu827Arg) c.2474T>G (p.Leu825Arg) c.2429T>G (p.Leu810Arg) c.2420T>G (p.Leu807Arg) c.2396T>G (p.Leu799Arg) c.2390T>G (p.Leu797Arg) c.2363T>G (p.Leu788Arg) c.2357T>G (p.Leu786Arg) c.2351T>G (p.Leu784Arg) c.2300T>G (p.Leu767Arg) c.2219T>G (p.Leu740Arg) c.2308-232T>G (n.2308-232T>G) c.2141T>G (p.Leu714Arg) c.2208+1157T>G (n.2208+1157T>G) c.1361T>G (p.Leu454Arg) n.2637T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724817T= | CA2259228015 | ERBB2 | c.2399T= (p.Leu800=) c.2309T= (p.Leu770=) c.1571T= (p.Leu524=) c.2354T= (p.Leu785=) c.*2189T= (n.*2189T=) c.505T= n.3533T= n.2723T= c.2537T= (p.Leu846=) c.2492T= (p.Leu831=) c.2447T= (p.Leu816=) c.2516T= (p.Leu839=) c.2501T= (p.Leu834=) c.2480T= (p.Leu827=) c.2474T= (p.Leu825=) c.2429T= (p.Leu810=) c.2420T= (p.Leu807=) c.2396T= (p.Leu799=) c.2390T= (p.Leu797=) c.2363T= (p.Leu788=) c.2357T= (p.Leu786=) c.2351T= (p.Leu784=) c.2300T= (p.Leu767=) c.2219T= (p.Leu740=) c.2308-232T= (n.2308-232T=) c.2141T= (p.Leu714=) c.2208+1157T= (n.2208+1157T=) c.1361T= (p.Leu454=) n.2637T= | |
17 | g.39724818T>A | CA499670898 | ERBB2 | c.2400T>A (p.Leu800=) c.2310T>A (p.Leu770=) c.1572T>A (p.Leu524=) c.2355T>A (p.Leu785=) c.*2190T>A (n.*2190T>A) c.506T>A n.3534T>A n.2724T>A c.2538T>A (p.Leu846=) c.2493T>A (p.Leu831=) c.2448T>A (p.Leu816=) c.2517T>A (p.Leu839=) c.2502T>A (p.Leu834=) c.2481T>A (p.Leu827=) c.2475T>A (p.Leu825=) c.2430T>A (p.Leu810=) c.2421T>A (p.Leu807=) c.2397T>A (p.Leu799=) c.2391T>A (p.Leu797=) c.2364T>A (p.Leu788=) c.2358T>A (p.Leu786=) c.2352T>A (p.Leu784=) c.2301T>A (p.Leu767=) c.2220T>A (p.Leu740=) c.2308-231T>A (n.2308-231T>A) c.2142T>A (p.Leu714=) c.2208+1158T>A (n.2208+1158T>A) c.1362T>A (p.Leu454=) n.2638T>A | dbSNP |
17 | g.39724818T>C | CA8534293 | ERBB2 | c.2400T>C (p.Leu800=) c.2310T>C (p.Leu770=) c.1572T>C (p.Leu524=) c.2355T>C (p.Leu785=) c.*2190T>C (n.*2190T>C) c.506T>C n.3534T>C n.2724T>C c.2538T>C (p.Leu846=) c.2493T>C (p.Leu831=) c.2448T>C (p.Leu816=) c.2517T>C (p.Leu839=) c.2502T>C (p.Leu834=) c.2481T>C (p.Leu827=) c.2475T>C (p.Leu825=) c.2430T>C (p.Leu810=) c.2421T>C (p.Leu807=) c.2397T>C (p.Leu799=) c.2391T>C (p.Leu797=) c.2364T>C (p.Leu788=) c.2358T>C (p.Leu786=) c.2352T>C (p.Leu784=) c.2301T>C (p.Leu767=) c.2220T>C (p.Leu740=) c.2308-231T>C (n.2308-231T>C) c.2142T>C (p.Leu714=) c.2208+1158T>C (n.2208+1158T>C) c.1362T>C (p.Leu454=) n.2638T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39724818T>G | CA499670899 | ERBB2 | c.2400T>G (p.Leu800=) c.2310T>G (p.Leu770=) c.1572T>G (p.Leu524=) c.2355T>G (p.Leu785=) c.*2190T>G (n.*2190T>G) c.506T>G n.3534T>G n.2724T>G c.2538T>G (p.Leu846=) c.2493T>G (p.Leu831=) c.2448T>G (p.Leu816=) c.2517T>G (p.Leu839=) c.2502T>G (p.Leu834=) c.2481T>G (p.Leu827=) c.2475T>G (p.Leu825=) c.2430T>G (p.Leu810=) c.2421T>G (p.Leu807=) c.2397T>G (p.Leu799=) c.2391T>G (p.Leu797=) c.2364T>G (p.Leu788=) c.2358T>G (p.Leu786=) c.2352T>G (p.Leu784=) c.2301T>G (p.Leu767=) c.2220T>G (p.Leu740=) c.2308-231T>G (n.2308-231T>G) c.2142T>G (p.Leu714=) c.2208+1158T>G (n.2208+1158T>G) c.1362T>G (p.Leu454=) n.2638T>G | |
17 | g.39724818T= | CA2259228016 | ERBB2 | c.2400T= (p.Leu800=) c.2310T= (p.Leu770=) c.1572T= (p.Leu524=) c.2355T= (p.Leu785=) c.*2190T= (n.*2190T=) c.506T= n.3534T= n.2724T= c.2538T= (p.Leu846=) c.2493T= (p.Leu831=) c.2448T= (p.Leu816=) c.2517T= (p.Leu839=) c.2502T= (p.Leu834=) c.2481T= (p.Leu827=) c.2475T= (p.Leu825=) c.2430T= (p.Leu810=) c.2421T= (p.Leu807=) c.2397T= (p.Leu799=) c.2391T= (p.Leu797=) c.2364T= (p.Leu788=) c.2358T= (p.Leu786=) c.2352T= (p.Leu784=) c.2301T= (p.Leu767=) c.2220T= (p.Leu740=) c.2308-231T= (n.2308-231T=) c.2142T= (p.Leu714=) c.2208+1158T= (n.2208+1158T=) c.1362T= (p.Leu454=) n.2638T= | |
17 | g.39724819_39724820del | CA2733615442 | ERBB2 | c.2401_2402del (p.Met801AlafsTer?) c.2311_2312del (p.Met771AlafsTer?) c.1573_1574del (p.Met525AlafsTer?) c.2356_2357del (p.Met786AlafsTer?) c.*2191_*2192del (n.*2191_*2192del) c.507_508del n.3535_3536del n.2725_2726del c.2539_2540del (p.Met847AlafsTer?) c.2494_2495del (p.Met832AlafsTer?) c.2449_2450del (p.Met817AlafsTer?) c.2518_2519del (p.Met840AlafsTer?) c.2503_2504del (p.Met835AlafsTer?) c.2482_2483del (p.Met828AlafsTer?) c.2476_2477del (p.Met826AlafsTer?) c.2431_2432del (p.Met811AlafsTer?) c.2422_2423del (p.Met808AlafsTer?) c.2398_2399del (p.Met800AlafsTer?) c.2392_2393del (p.Met798AlafsTer?) c.2365_2366del (p.Met789AlafsTer?) c.2359_2360del (p.Met787AlafsTer?) c.2353_2354del (p.Met785AlafsTer?) c.2302_2303del (p.Met768AlafsTer?) c.2221_2222del (p.Met741AlafsTer?) c.2308-230_2308-229del (n.2308-230_2308-229del) c.2143_2144del (p.Met715AlafsTer?) c.2208+1159_2208+1160del (n.2208+1159_2208+1160del) c.1363_1364del (p.Met455AlafsTer?) n.2639_2640del | dbSNP |
17 | g.39724819A>C | CA399303287 | ERBB2 | c.2401A>C (p.Met801Leu) c.2311A>C (p.Met771Leu) c.1573A>C (p.Met525Leu) c.2356A>C (p.Met786Leu) c.*2191A>C (n.*2191A>C) c.507A>C n.3535A>C n.2725A>C c.2539A>C (p.Met847Leu) c.2494A>C (p.Met832Leu) c.2449A>C (p.Met817Leu) c.2518A>C (p.Met840Leu) c.2503A>C (p.Met835Leu) c.2482A>C (p.Met828Leu) c.2476A>C (p.Met826Leu) c.2431A>C (p.Met811Leu) c.2422A>C (p.Met808Leu) c.2398A>C (p.Met800Leu) c.2392A>C (p.Met798Leu) c.2365A>C (p.Met789Leu) c.2359A>C (p.Met787Leu) c.2353A>C (p.Met785Leu) c.2302A>C (p.Met768Leu) c.2221A>C (p.Met741Leu) c.2308-230A>C (n.2308-230A>C) c.2143A>C (p.Met715Leu) c.2208+1159A>C (n.2208+1159A>C) c.1363A>C (p.Met455Leu) n.2639A>C | dbSNP |
17 | g.39724819A>G | CA399303289 | ERBB2 | c.2401A>G (p.Met801Val) c.2311A>G (p.Met771Val) c.1573A>G (p.Met525Val) c.2356A>G (p.Met786Val) c.*2191A>G (n.*2191A>G) c.507A>G n.3535A>G n.2725A>G c.2539A>G (p.Met847Val) c.2494A>G (p.Met832Val) c.2449A>G (p.Met817Val) c.2518A>G (p.Met840Val) c.2503A>G (p.Met835Val) c.2482A>G (p.Met828Val) c.2476A>G (p.Met826Val) c.2431A>G (p.Met811Val) c.2422A>G (p.Met808Val) c.2398A>G (p.Met800Val) c.2392A>G (p.Met798Val) c.2365A>G (p.Met789Val) c.2359A>G (p.Met787Val) c.2353A>G (p.Met785Val) c.2302A>G (p.Met768Val) c.2221A>G (p.Met741Val) c.2308-230A>G (n.2308-230A>G) c.2143A>G (p.Met715Val) c.2208+1159A>G (n.2208+1159A>G) c.1363A>G (p.Met455Val) n.2639A>G | dbSNP |
17 | g.39724819A>T | CA399303291 | ERBB2 | c.2401A>T (p.Met801Leu) c.2311A>T (p.Met771Leu) c.1573A>T (p.Met525Leu) c.2356A>T (p.Met786Leu) c.*2191A>T (n.*2191A>T) c.507A>T n.3535A>T n.2725A>T c.2539A>T (p.Met847Leu) c.2494A>T (p.Met832Leu) c.2449A>T (p.Met817Leu) c.2518A>T (p.Met840Leu) c.2503A>T (p.Met835Leu) c.2482A>T (p.Met828Leu) c.2476A>T (p.Met826Leu) c.2431A>T (p.Met811Leu) c.2422A>T (p.Met808Leu) c.2398A>T (p.Met800Leu) c.2392A>T (p.Met798Leu) c.2365A>T (p.Met789Leu) c.2359A>T (p.Met787Leu) c.2353A>T (p.Met785Leu) c.2302A>T (p.Met768Leu) c.2221A>T (p.Met741Leu) c.2308-230A>T (n.2308-230A>T) c.2143A>T (p.Met715Leu) c.2208+1159A>T (n.2208+1159A>T) c.1363A>T (p.Met455Leu) n.2639A>T | dbSNP |
17 | g.39724820T>A | CA399303295 | ERBB2 | c.2402T>A (p.Met801Lys) c.2312T>A (p.Met771Lys) c.1574T>A (p.Met525Lys) c.2357T>A (p.Met786Lys) c.*2192T>A (n.*2192T>A) c.508T>A n.3536T>A n.2726T>A c.2540T>A (p.Met847Lys) c.2495T>A (p.Met832Lys) c.2450T>A (p.Met817Lys) c.2519T>A (p.Met840Lys) c.2504T>A (p.Met835Lys) c.2483T>A (p.Met828Lys) c.2477T>A (p.Met826Lys) c.2432T>A (p.Met811Lys) c.2423T>A (p.Met808Lys) c.2399T>A (p.Met800Lys) c.2393T>A (p.Met798Lys) c.2366T>A (p.Met789Lys) c.2360T>A (p.Met787Lys) c.2354T>A (p.Met785Lys) c.2303T>A (p.Met768Lys) c.2222T>A (p.Met741Lys) c.2308-229T>A (n.2308-229T>A) c.2144T>A (p.Met715Lys) c.2208+1160T>A (n.2208+1160T>A) c.1364T>A (p.Met455Lys) n.2640T>A | dbSNP |
17 | g.39724820T>C | CA399303298 | ERBB2 | c.2402T>C (p.Met801Thr) c.2312T>C (p.Met771Thr) c.1574T>C (p.Met525Thr) c.2357T>C (p.Met786Thr) c.*2192T>C (n.*2192T>C) c.508T>C n.3536T>C n.2726T>C c.2540T>C (p.Met847Thr) c.2495T>C (p.Met832Thr) c.2450T>C (p.Met817Thr) c.2519T>C (p.Met840Thr) c.2504T>C (p.Met835Thr) c.2483T>C (p.Met828Thr) c.2477T>C (p.Met826Thr) c.2432T>C (p.Met811Thr) c.2423T>C (p.Met808Thr) c.2399T>C (p.Met800Thr) c.2393T>C (p.Met798Thr) c.2366T>C (p.Met789Thr) c.2360T>C (p.Met787Thr) c.2354T>C (p.Met785Thr) c.2303T>C (p.Met768Thr) c.2222T>C (p.Met741Thr) c.2308-229T>C (n.2308-229T>C) c.2144T>C (p.Met715Thr) c.2208+1160T>C (n.2208+1160T>C) c.1364T>C (p.Met455Thr) n.2640T>C | dbSNP |
17 | g.39724820T>G | CA399303296 | ERBB2 | c.2402T>G (p.Met801Arg) c.2312T>G (p.Met771Arg) c.1574T>G (p.Met525Arg) c.2357T>G (p.Met786Arg) c.*2192T>G (n.*2192T>G) c.508T>G n.3536T>G n.2726T>G c.2540T>G (p.Met847Arg) c.2495T>G (p.Met832Arg) c.2450T>G (p.Met817Arg) c.2519T>G (p.Met840Arg) c.2504T>G (p.Met835Arg) c.2483T>G (p.Met828Arg) c.2477T>G (p.Met826Arg) c.2432T>G (p.Met811Arg) c.2423T>G (p.Met808Arg) c.2399T>G (p.Met800Arg) c.2393T>G (p.Met798Arg) c.2366T>G (p.Met789Arg) c.2360T>G (p.Met787Arg) c.2354T>G (p.Met785Arg) c.2303T>G (p.Met768Arg) c.2222T>G (p.Met741Arg) c.2308-229T>G (n.2308-229T>G) c.2144T>G (p.Met715Arg) c.2208+1160T>G (n.2208+1160T>G) c.1364T>G (p.Met455Arg) n.2640T>G | dbSNP |
17 | g.39724821G>A | CA399303301 | ERBB2 | c.2403G>A (p.Met801Ile) c.2313G>A (p.Met771Ile) c.1575G>A (p.Met525Ile) c.2358G>A (p.Met786Ile) c.*2193G>A (n.*2193G>A) c.509G>A n.3537G>A n.2727G>A c.2541G>A (p.Met847Ile) c.2496G>A (p.Met832Ile) c.2451G>A (p.Met817Ile) c.2520G>A (p.Met840Ile) c.2505G>A (p.Met835Ile) c.2484G>A (p.Met828Ile) c.2478G>A (p.Met826Ile) c.2433G>A (p.Met811Ile) c.2424G>A (p.Met808Ile) c.2400G>A (p.Met800Ile) c.2394G>A (p.Met798Ile) c.2367G>A (p.Met789Ile) c.2361G>A (p.Met787Ile) c.2355G>A (p.Met785Ile) c.2304G>A (p.Met768Ile) c.2223G>A (p.Met741Ile) c.2308-228G>A (n.2308-228G>A) c.2145G>A (p.Met715Ile) c.2208+1161G>A (n.2208+1161G>A) c.1365G>A (p.Met455Ile) n.2641G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724821G>C | CA399303302 | ERBB2 | c.2403G>C (p.Met801Ile) c.2313G>C (p.Met771Ile) c.1575G>C (p.Met525Ile) c.2358G>C (p.Met786Ile) c.*2193G>C (n.*2193G>C) c.509G>C n.3537G>C n.2727G>C c.2541G>C (p.Met847Ile) c.2496G>C (p.Met832Ile) c.2451G>C (p.Met817Ile) c.2520G>C (p.Met840Ile) c.2505G>C (p.Met835Ile) c.2484G>C (p.Met828Ile) c.2478G>C (p.Met826Ile) c.2433G>C (p.Met811Ile) c.2424G>C (p.Met808Ile) c.2400G>C (p.Met800Ile) c.2394G>C (p.Met798Ile) c.2367G>C (p.Met789Ile) c.2361G>C (p.Met787Ile) c.2355G>C (p.Met785Ile) c.2304G>C (p.Met768Ile) c.2223G>C (p.Met741Ile) c.2308-228G>C (n.2308-228G>C) c.2145G>C (p.Met715Ile) c.2208+1161G>C (n.2208+1161G>C) c.1365G>C (p.Met455Ile) n.2641G>C | |
17 | g.39724821G= | CA2259228017 | ERBB2 | c.2403G= (p.Met801=) c.2313G= (p.Met771=) c.1575G= (p.Met525=) c.2358G= (p.Met786=) c.*2193G= (n.*2193G=) c.509G= n.3537G= n.2727G= c.2541G= (p.Met847=) c.2496G= (p.Met832=) c.2451G= (p.Met817=) c.2520G= (p.Met840=) c.2505G= (p.Met835=) c.2484G= (p.Met828=) c.2478G= (p.Met826=) c.2433G= (p.Met811=) c.2424G= (p.Met808=) c.2400G= (p.Met800=) c.2394G= (p.Met798=) c.2367G= (p.Met789=) c.2361G= (p.Met787=) c.2355G= (p.Met785=) c.2304G= (p.Met768=) c.2223G= (p.Met741=) c.2308-228G= (n.2308-228G=) c.2145G= (p.Met715=) c.2208+1161G= (n.2208+1161G=) c.1365G= (p.Met455=) n.2641G= | |
17 | g.39724821G>T | CA399303305 | ERBB2 | c.2403G>T (p.Met801Ile) c.2313G>T (p.Met771Ile) c.1575G>T (p.Met525Ile) c.2358G>T (p.Met786Ile) c.*2193G>T (n.*2193G>T) c.509G>T n.3537G>T n.2727G>T c.2541G>T (p.Met847Ile) c.2496G>T (p.Met832Ile) c.2451G>T (p.Met817Ile) c.2520G>T (p.Met840Ile) c.2505G>T (p.Met835Ile) c.2484G>T (p.Met828Ile) c.2478G>T (p.Met826Ile) c.2433G>T (p.Met811Ile) c.2424G>T (p.Met808Ile) c.2400G>T (p.Met800Ile) c.2394G>T (p.Met798Ile) c.2367G>T (p.Met789Ile) c.2361G>T (p.Met787Ile) c.2355G>T (p.Met785Ile) c.2304G>T (p.Met768Ile) c.2223G>T (p.Met741Ile) c.2308-228G>T (n.2308-228G>T) c.2145G>T (p.Met715Ile) c.2208+1161G>T (n.2208+1161G>T) c.1365G>T (p.Met455Ile) n.2641G>T | |
17 | g.39724822C>A | CA399303307 | ERBB2 | c.2404C>A (p.Pro802Thr) c.2314C>A (p.Pro772Thr) c.1576C>A (p.Pro526Thr) c.2359C>A (p.Pro787Thr) c.*2194C>A (n.*2194C>A) c.510C>A n.3538C>A n.2728C>A c.2542C>A (p.Pro848Thr) c.2497C>A (p.Pro833Thr) c.2452C>A (p.Pro818Thr) c.2521C>A (p.Pro841Thr) c.2506C>A (p.Pro836Thr) c.2485C>A (p.Pro829Thr) c.2479C>A (p.Pro827Thr) c.2434C>A (p.Pro812Thr) c.2425C>A (p.Pro809Thr) c.2401C>A (p.Pro801Thr) c.2395C>A (p.Pro799Thr) c.2368C>A (p.Pro790Thr) c.2362C>A (p.Pro788Thr) c.2356C>A (p.Pro786Thr) c.2305C>A (p.Pro769Thr) c.2224C>A (p.Pro742Thr) c.2308-227C>A (n.2308-227C>A) c.2146C>A (p.Pro716Thr) c.2208+1162C>A (n.2208+1162C>A) c.1366C>A (p.Pro456Thr) n.2642C>A | dbSNP |
17 | g.39724822C>G | CA399303309 | ERBB2 | c.2404C>G (p.Pro802Ala) c.2314C>G (p.Pro772Ala) c.1576C>G (p.Pro526Ala) c.2359C>G (p.Pro787Ala) c.*2194C>G (n.*2194C>G) c.510C>G n.3538C>G n.2728C>G c.2542C>G (p.Pro848Ala) c.2497C>G (p.Pro833Ala) c.2452C>G (p.Pro818Ala) c.2521C>G (p.Pro841Ala) c.2506C>G (p.Pro836Ala) c.2485C>G (p.Pro829Ala) c.2479C>G (p.Pro827Ala) c.2434C>G (p.Pro812Ala) c.2425C>G (p.Pro809Ala) c.2401C>G (p.Pro801Ala) c.2395C>G (p.Pro799Ala) c.2368C>G (p.Pro790Ala) c.2362C>G (p.Pro788Ala) c.2356C>G (p.Pro786Ala) c.2305C>G (p.Pro769Ala) c.2224C>G (p.Pro742Ala) c.2308-227C>G (n.2308-227C>G) c.2146C>G (p.Pro716Ala) c.2208+1162C>G (n.2208+1162C>G) c.1366C>G (p.Pro456Ala) n.2642C>G | dbSNP |
17 | g.39724822C>T | CA399303310 | ERBB2 | c.2404C>T (p.Pro802Ser) c.2314C>T (p.Pro772Ser) c.1576C>T (p.Pro526Ser) c.2359C>T (p.Pro787Ser) c.*2194C>T (n.*2194C>T) c.510C>T n.3538C>T n.2728C>T c.2542C>T (p.Pro848Ser) c.2497C>T (p.Pro833Ser) c.2452C>T (p.Pro818Ser) c.2521C>T (p.Pro841Ser) c.2506C>T (p.Pro836Ser) c.2485C>T (p.Pro829Ser) c.2479C>T (p.Pro827Ser) c.2434C>T (p.Pro812Ser) c.2425C>T (p.Pro809Ser) c.2401C>T (p.Pro801Ser) c.2395C>T (p.Pro799Ser) c.2368C>T (p.Pro790Ser) c.2362C>T (p.Pro788Ser) c.2356C>T (p.Pro786Ser) c.2305C>T (p.Pro769Ser) c.2224C>T (p.Pro742Ser) c.2308-227C>T (n.2308-227C>T) c.2146C>T (p.Pro716Ser) c.2208+1162C>T (n.2208+1162C>T) c.1366C>T (p.Pro456Ser) n.2642C>T | dbSNP |
17 | g.39724824del | CA2841124910 | ERBB2 | c.2406del (p.Tyr803MetfsTer5) c.2316del (p.Tyr773MetfsTer5) c.1578del (p.Tyr527MetfsTer5) c.2361del (p.Tyr788MetfsTer5) c.*2196del (n.*2196del) c.512del n.3540del n.2730del c.2544del (p.Tyr849MetfsTer5) c.2499del (p.Tyr834MetfsTer5) c.2454del (p.Tyr819MetfsTer5) c.2523del (p.Tyr842MetfsTer5) c.2508del (p.Tyr837MetfsTer5) c.2487del (p.Tyr830MetfsTer5) c.2481del (p.Tyr828MetfsTer5) c.2436del (p.Tyr813MetfsTer5) c.2427del (p.Tyr810MetfsTer5) c.2403del (p.Tyr802MetfsTer5) c.2397del (p.Tyr800MetfsTer5) c.2370del (p.Tyr791MetfsTer5) c.2364del (p.Tyr789MetfsTer5) c.2358del (p.Tyr787MetfsTer5) c.2307del (p.Tyr770MetfsTer5) c.2226del (p.Tyr743MetfsTer5) c.2308-225del (n.2308-225del) c.2148del (p.Tyr717MetfsTer5) c.2208+1164del (n.2208+1164del) c.1368del (p.Tyr457MetfsTer5) n.2644del | |
17 | g.39724823_39724824del | CA2637621645 | ERBB2 | c.2405_2406del (p.Pro802LeufsTer?) c.2315_2316del (p.Pro772LeufsTer?) c.1577_1578del (p.Pro526LeufsTer?) c.2360_2361del (p.Pro787LeufsTer?) c.*2195_*2196del (n.*2195_*2196del) c.511_512del n.3539_3540del n.2729_2730del c.2543_2544del (p.Pro848LeufsTer?) c.2498_2499del (p.Pro833LeufsTer?) c.2453_2454del (p.Pro818LeufsTer?) c.2522_2523del (p.Pro841LeufsTer?) c.2507_2508del (p.Pro836LeufsTer?) c.2486_2487del (p.Pro829LeufsTer?) c.2480_2481del (p.Pro827LeufsTer?) c.2435_2436del (p.Pro812LeufsTer?) c.2426_2427del (p.Pro809LeufsTer?) c.2402_2403del (p.Pro801LeufsTer?) c.2396_2397del (p.Pro799LeufsTer?) c.2369_2370del (p.Pro790LeufsTer?) c.2363_2364del (p.Pro788LeufsTer?) c.2357_2358del (p.Pro786LeufsTer?) c.2306_2307del (p.Pro769LeufsTer?) c.2225_2226del (p.Pro742LeufsTer?) c.2308-226_2308-225del (n.2308-226_2308-225del) c.2147_2148del (p.Pro716LeufsTer?) c.2208+1163_2208+1164del (n.2208+1163_2208+1164del) c.1367_1368del (p.Pro456LeufsTer?) n.2643_2644del | gnomAD v4 |
17 | g.39724823C>A | CA399303314 | ERBB2 | c.2405C>A (p.Pro802His) c.2315C>A (p.Pro772His) c.1577C>A (p.Pro526His) c.2360C>A (p.Pro787His) c.*2195C>A (n.*2195C>A) c.511C>A n.3539C>A n.2729C>A c.2543C>A (p.Pro848His) c.2498C>A (p.Pro833His) c.2453C>A (p.Pro818His) c.2522C>A (p.Pro841His) c.2507C>A (p.Pro836His) c.2486C>A (p.Pro829His) c.2480C>A (p.Pro827His) c.2435C>A (p.Pro812His) c.2426C>A (p.Pro809His) c.2402C>A (p.Pro801His) c.2396C>A (p.Pro799His) c.2369C>A (p.Pro790His) c.2363C>A (p.Pro788His) c.2357C>A (p.Pro786His) c.2306C>A (p.Pro769His) c.2225C>A (p.Pro742His) c.2308-226C>A (n.2308-226C>A) c.2147C>A (p.Pro716His) c.2208+1163C>A (n.2208+1163C>A) c.1367C>A (p.Pro456His) n.2643C>A | dbSNP |
17 | g.39724823C>G | CA399303316 | ERBB2 | c.2405C>G (p.Pro802Arg) c.2315C>G (p.Pro772Arg) c.1577C>G (p.Pro526Arg) c.2360C>G (p.Pro787Arg) c.*2195C>G (n.*2195C>G) c.511C>G n.3539C>G n.2729C>G c.2543C>G (p.Pro848Arg) c.2498C>G (p.Pro833Arg) c.2453C>G (p.Pro818Arg) c.2522C>G (p.Pro841Arg) c.2507C>G (p.Pro836Arg) c.2486C>G (p.Pro829Arg) c.2480C>G (p.Pro827Arg) c.2435C>G (p.Pro812Arg) c.2426C>G (p.Pro809Arg) c.2402C>G (p.Pro801Arg) c.2396C>G (p.Pro799Arg) c.2369C>G (p.Pro790Arg) c.2363C>G (p.Pro788Arg) c.2357C>G (p.Pro786Arg) c.2306C>G (p.Pro769Arg) c.2225C>G (p.Pro742Arg) c.2308-226C>G (n.2308-226C>G) c.2147C>G (p.Pro716Arg) c.2208+1163C>G (n.2208+1163C>G) c.1367C>G (p.Pro456Arg) n.2643C>G | dbSNP |
17 | g.39724823C>T | CA399303319 | ERBB2 | c.2405C>T (p.Pro802Leu) c.2315C>T (p.Pro772Leu) c.1577C>T (p.Pro526Leu) c.2360C>T (p.Pro787Leu) c.*2195C>T (n.*2195C>T) c.511C>T n.3539C>T n.2729C>T c.2543C>T (p.Pro848Leu) c.2498C>T (p.Pro833Leu) c.2453C>T (p.Pro818Leu) c.2522C>T (p.Pro841Leu) c.2507C>T (p.Pro836Leu) c.2486C>T (p.Pro829Leu) c.2480C>T (p.Pro827Leu) c.2435C>T (p.Pro812Leu) c.2426C>T (p.Pro809Leu) c.2402C>T (p.Pro801Leu) c.2396C>T (p.Pro799Leu) c.2369C>T (p.Pro790Leu) c.2363C>T (p.Pro788Leu) c.2357C>T (p.Pro786Leu) c.2306C>T (p.Pro769Leu) c.2225C>T (p.Pro742Leu) c.2308-226C>T (n.2308-226C>T) c.2147C>T (p.Pro716Leu) c.2208+1163C>T (n.2208+1163C>T) c.1367C>T (p.Pro456Leu) n.2643C>T | ClinVar dbSNP |
17 | g.39724824C>A | CA499670902 | ERBB2 | c.2406C>A (p.Pro802=) c.2316C>A (p.Pro772=) c.1578C>A (p.Pro526=) c.2361C>A (p.Pro787=) c.*2196C>A (n.*2196C>A) c.512C>A n.3540C>A n.2730C>A c.2544C>A (p.Pro848=) c.2499C>A (p.Pro833=) c.2454C>A (p.Pro818=) c.2523C>A (p.Pro841=) c.2508C>A (p.Pro836=) c.2487C>A (p.Pro829=) c.2481C>A (p.Pro827=) c.2436C>A (p.Pro812=) c.2427C>A (p.Pro809=) c.2403C>A (p.Pro801=) c.2397C>A (p.Pro799=) c.2370C>A (p.Pro790=) c.2364C>A (p.Pro788=) c.2358C>A (p.Pro786=) c.2307C>A (p.Pro769=) c.2226C>A (p.Pro742=) c.2308-225C>A (n.2308-225C>A) c.2148C>A (p.Pro716=) c.2208+1164C>A (n.2208+1164C>A) c.1368C>A (p.Pro456=) n.2644C>A | dbSNP |
17 | g.39724824C= | CA2259228018 | ERBB2 | c.2406C= (p.Pro802=) c.2316C= (p.Pro772=) c.1578C= (p.Pro526=) c.2361C= (p.Pro787=) c.*2196C= (n.*2196C=) c.512C= n.3540C= n.2730C= c.2544C= (p.Pro848=) c.2499C= (p.Pro833=) c.2454C= (p.Pro818=) c.2523C= (p.Pro841=) c.2508C= (p.Pro836=) c.2487C= (p.Pro829=) c.2481C= (p.Pro827=) c.2436C= (p.Pro812=) c.2427C= (p.Pro809=) c.2403C= (p.Pro801=) c.2397C= (p.Pro799=) c.2370C= (p.Pro790=) c.2364C= (p.Pro788=) c.2358C= (p.Pro786=) c.2307C= (p.Pro769=) c.2226C= (p.Pro742=) c.2308-225C= (n.2308-225C=) c.2148C= (p.Pro716=) c.2208+1164C= (n.2208+1164C=) c.1368C= (p.Pro456=) n.2644C= | |
17 | g.39724824C>G | CA499670901 | ERBB2 | c.2406C>G (p.Pro802=) c.2316C>G (p.Pro772=) c.1578C>G (p.Pro526=) c.2361C>G (p.Pro787=) c.*2196C>G (n.*2196C>G) c.512C>G n.3540C>G n.2730C>G c.2544C>G (p.Pro848=) c.2499C>G (p.Pro833=) c.2454C>G (p.Pro818=) c.2523C>G (p.Pro841=) c.2508C>G (p.Pro836=) c.2487C>G (p.Pro829=) c.2481C>G (p.Pro827=) c.2436C>G (p.Pro812=) c.2427C>G (p.Pro809=) c.2403C>G (p.Pro801=) c.2397C>G (p.Pro799=) c.2370C>G (p.Pro790=) c.2364C>G (p.Pro788=) c.2358C>G (p.Pro786=) c.2307C>G (p.Pro769=) c.2226C>G (p.Pro742=) c.2308-225C>G (n.2308-225C>G) c.2148C>G (p.Pro716=) c.2208+1164C>G (n.2208+1164C>G) c.1368C>G (p.Pro456=) n.2644C>G | dbSNP |
17 | g.39724824C>T | CA499670900 | ERBB2 | c.2406C>T (p.Pro802=) c.2316C>T (p.Pro772=) c.1578C>T (p.Pro526=) c.2361C>T (p.Pro787=) c.*2196C>T (n.*2196C>T) c.512C>T n.3540C>T n.2730C>T c.2544C>T (p.Pro848=) c.2499C>T (p.Pro833=) c.2454C>T (p.Pro818=) c.2523C>T (p.Pro841=) c.2508C>T (p.Pro836=) c.2487C>T (p.Pro829=) c.2481C>T (p.Pro827=) c.2436C>T (p.Pro812=) c.2427C>T (p.Pro809=) c.2403C>T (p.Pro801=) c.2397C>T (p.Pro799=) c.2370C>T (p.Pro790=) c.2364C>T (p.Pro788=) c.2358C>T (p.Pro786=) c.2307C>T (p.Pro769=) c.2226C>T (p.Pro742=) c.2308-225C>T (n.2308-225C>T) c.2148C>T (p.Pro716=) c.2208+1164C>T (n.2208+1164C>T) c.1368C>T (p.Pro456=) n.2644C>T | dbSNP |
17 | g.39724825T>A | CA399303321 | ERBB2 | c.2407T>A (p.Tyr803Asn) c.2317T>A (p.Tyr773Asn) c.1579T>A (p.Tyr527Asn) c.2362T>A (p.Tyr788Asn) c.*2197T>A (n.*2197T>A) c.513T>A n.3541T>A n.2731T>A c.2545T>A (p.Tyr849Asn) c.2500T>A (p.Tyr834Asn) c.2455T>A (p.Tyr819Asn) c.2524T>A (p.Tyr842Asn) c.2509T>A (p.Tyr837Asn) c.2488T>A (p.Tyr830Asn) c.2482T>A (p.Tyr828Asn) c.2437T>A (p.Tyr813Asn) c.2428T>A (p.Tyr810Asn) c.2404T>A (p.Tyr802Asn) c.2398T>A (p.Tyr800Asn) c.2371T>A (p.Tyr791Asn) c.2365T>A (p.Tyr789Asn) c.2359T>A (p.Tyr787Asn) c.2308T>A (p.Tyr770Asn) c.2227T>A (p.Tyr743Asn) c.2308-224T>A (n.2308-224T>A) c.2149T>A (p.Tyr717Asn) c.2208+1165T>A (n.2208+1165T>A) c.1369T>A (p.Tyr457Asn) n.2645T>A | dbSNP |
17 | g.39724825T>C | CA290440567 | ERBB2 | c.2407T>C (p.Tyr803His) c.2317T>C (p.Tyr773His) c.1579T>C (p.Tyr527His) c.2362T>C (p.Tyr788His) c.*2197T>C (n.*2197T>C) c.513T>C n.3541T>C n.2731T>C c.2545T>C (p.Tyr849His) c.2500T>C (p.Tyr834His) c.2455T>C (p.Tyr819His) c.2524T>C (p.Tyr842His) c.2509T>C (p.Tyr837His) c.2488T>C (p.Tyr830His) c.2482T>C (p.Tyr828His) c.2437T>C (p.Tyr813His) c.2428T>C (p.Tyr810His) c.2404T>C (p.Tyr802His) c.2398T>C (p.Tyr800His) c.2371T>C (p.Tyr791His) c.2365T>C (p.Tyr789His) c.2359T>C (p.Tyr787His) c.2308T>C (p.Tyr770His) c.2227T>C (p.Tyr743His) c.2308-224T>C (n.2308-224T>C) c.2149T>C (p.Tyr717His) c.2208+1165T>C (n.2208+1165T>C) c.1369T>C (p.Tyr457His) n.2645T>C | dbSNP gnomAD v4 |
17 | g.39724825T>G | CA399303324 | ERBB2 | c.2407T>G (p.Tyr803Asp) c.2317T>G (p.Tyr773Asp) c.1579T>G (p.Tyr527Asp) c.2362T>G (p.Tyr788Asp) c.*2197T>G (n.*2197T>G) c.513T>G n.3541T>G n.2731T>G c.2545T>G (p.Tyr849Asp) c.2500T>G (p.Tyr834Asp) c.2455T>G (p.Tyr819Asp) c.2524T>G (p.Tyr842Asp) c.2509T>G (p.Tyr837Asp) c.2488T>G (p.Tyr830Asp) c.2482T>G (p.Tyr828Asp) c.2437T>G (p.Tyr813Asp) c.2428T>G (p.Tyr810Asp) c.2404T>G (p.Tyr802Asp) c.2398T>G (p.Tyr800Asp) c.2371T>G (p.Tyr791Asp) c.2365T>G (p.Tyr789Asp) c.2359T>G (p.Tyr787Asp) c.2308T>G (p.Tyr770Asp) c.2227T>G (p.Tyr743Asp) c.2308-224T>G (n.2308-224T>G) c.2149T>G (p.Tyr717Asp) c.2208+1165T>G (n.2208+1165T>G) c.1369T>G (p.Tyr457Asp) n.2645T>G | |
17 | g.39724825T= | CA2259228019 | ERBB2 | c.2407T= (p.Tyr803=) c.2317T= (p.Tyr773=) c.1579T= (p.Tyr527=) c.2362T= (p.Tyr788=) c.*2197T= (n.*2197T=) c.513T= n.3541T= n.2731T= c.2545T= (p.Tyr849=) c.2500T= (p.Tyr834=) c.2455T= (p.Tyr819=) c.2524T= (p.Tyr842=) c.2509T= (p.Tyr837=) c.2488T= (p.Tyr830=) c.2482T= (p.Tyr828=) c.2437T= (p.Tyr813=) c.2428T= (p.Tyr810=) c.2404T= (p.Tyr802=) c.2398T= (p.Tyr800=) c.2371T= (p.Tyr791=) c.2365T= (p.Tyr789=) c.2359T= (p.Tyr787=) c.2308T= (p.Tyr770=) c.2227T= (p.Tyr743=) c.2308-224T= (n.2308-224T=) c.2149T= (p.Tyr717=) c.2208+1165T= (n.2208+1165T=) c.1369T= (p.Tyr457=) n.2645T= | |
17 | g.39724826A= | CA2259228020 | ERBB2 | c.2408A= (p.Tyr803=) c.2318A= (p.Tyr773=) c.1580A= (p.Tyr527=) c.2363A= (p.Tyr788=) c.*2198A= (n.*2198A=) c.514A= n.3542A= n.2732A= c.2546A= (p.Tyr849=) c.2501A= (p.Tyr834=) c.2456A= (p.Tyr819=) c.2525A= (p.Tyr842=) c.2510A= (p.Tyr837=) c.2489A= (p.Tyr830=) c.2483A= (p.Tyr828=) c.2438A= (p.Tyr813=) c.2429A= (p.Tyr810=) c.2405A= (p.Tyr802=) c.2399A= (p.Tyr800=) c.2372A= (p.Tyr791=) c.2366A= (p.Tyr789=) c.2360A= (p.Tyr787=) c.2309A= (p.Tyr770=) c.2228A= (p.Tyr743=) c.2308-223A= (n.2308-223A=) c.2150A= (p.Tyr717=) c.2208+1166A= (n.2208+1166A=) c.1370A= (p.Tyr457=) n.2646A= | |
17 | g.39724826A>C | CA399303330 | ERBB2 | c.2408A>C (p.Tyr803Ser) c.2318A>C (p.Tyr773Ser) c.1580A>C (p.Tyr527Ser) c.2363A>C (p.Tyr788Ser) c.*2198A>C (n.*2198A>C) c.514A>C n.3542A>C n.2732A>C c.2546A>C (p.Tyr849Ser) c.2501A>C (p.Tyr834Ser) c.2456A>C (p.Tyr819Ser) c.2525A>C (p.Tyr842Ser) c.2510A>C (p.Tyr837Ser) c.2489A>C (p.Tyr830Ser) c.2483A>C (p.Tyr828Ser) c.2438A>C (p.Tyr813Ser) c.2429A>C (p.Tyr810Ser) c.2405A>C (p.Tyr802Ser) c.2399A>C (p.Tyr800Ser) c.2372A>C (p.Tyr791Ser) c.2366A>C (p.Tyr789Ser) c.2360A>C (p.Tyr787Ser) c.2309A>C (p.Tyr770Ser) c.2228A>C (p.Tyr743Ser) c.2308-223A>C (n.2308-223A>C) c.2150A>C (p.Tyr717Ser) c.2208+1166A>C (n.2208+1166A>C) c.1370A>C (p.Tyr457Ser) n.2646A>C | dbSNP |
17 | g.39724826A>G | CA8534294 | ERBB2 | c.2408A>G (p.Tyr803Cys) c.2318A>G (p.Tyr773Cys) c.1580A>G (p.Tyr527Cys) c.2363A>G (p.Tyr788Cys) c.*2198A>G (n.*2198A>G) c.514A>G n.3542A>G n.2732A>G c.2546A>G (p.Tyr849Cys) c.2501A>G (p.Tyr834Cys) c.2456A>G (p.Tyr819Cys) c.2525A>G (p.Tyr842Cys) c.2510A>G (p.Tyr837Cys) c.2489A>G (p.Tyr830Cys) c.2483A>G (p.Tyr828Cys) c.2438A>G (p.Tyr813Cys) c.2429A>G (p.Tyr810Cys) c.2405A>G (p.Tyr802Cys) c.2399A>G (p.Tyr800Cys) c.2372A>G (p.Tyr791Cys) c.2366A>G (p.Tyr789Cys) c.2360A>G (p.Tyr787Cys) c.2309A>G (p.Tyr770Cys) c.2228A>G (p.Tyr743Cys) c.2308-223A>G (n.2308-223A>G) c.2150A>G (p.Tyr717Cys) c.2208+1166A>G (n.2208+1166A>G) c.1370A>G (p.Tyr457Cys) n.2646A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39724826A>T | CA399303328 | ERBB2 | c.2408A>T (p.Tyr803Phe) c.2318A>T (p.Tyr773Phe) c.1580A>T (p.Tyr527Phe) c.2363A>T (p.Tyr788Phe) c.*2198A>T (n.*2198A>T) c.514A>T n.3542A>T n.2732A>T c.2546A>T (p.Tyr849Phe) c.2501A>T (p.Tyr834Phe) c.2456A>T (p.Tyr819Phe) c.2525A>T (p.Tyr842Phe) c.2510A>T (p.Tyr837Phe) c.2489A>T (p.Tyr830Phe) c.2483A>T (p.Tyr828Phe) c.2438A>T (p.Tyr813Phe) c.2429A>T (p.Tyr810Phe) c.2405A>T (p.Tyr802Phe) c.2399A>T (p.Tyr800Phe) c.2372A>T (p.Tyr791Phe) c.2366A>T (p.Tyr789Phe) c.2360A>T (p.Tyr787Phe) c.2309A>T (p.Tyr770Phe) c.2228A>T (p.Tyr743Phe) c.2308-223A>T (n.2308-223A>T) c.2150A>T (p.Tyr717Phe) c.2208+1166A>T (n.2208+1166A>T) c.1370A>T (p.Tyr457Phe) n.2646A>T | dbSNP |
17 | g.39724827T>A | CA399303332 | ERBB2 | c.2409T>A (p.Tyr803Ter) c.2319T>A (p.Tyr773Ter) c.1581T>A (p.Tyr527Ter) c.2364T>A (p.Tyr788Ter) c.*2199T>A (n.*2199T>A) c.515T>A n.3543T>A n.2733T>A c.2547T>A (p.Tyr849Ter) c.2502T>A (p.Tyr834Ter) c.2457T>A (p.Tyr819Ter) c.2526T>A (p.Tyr842Ter) c.2511T>A (p.Tyr837Ter) c.2490T>A (p.Tyr830Ter) c.2484T>A (p.Tyr828Ter) c.2439T>A (p.Tyr813Ter) c.2430T>A (p.Tyr810Ter) c.2406T>A (p.Tyr802Ter) c.2400T>A (p.Tyr800Ter) c.2373T>A (p.Tyr791Ter) c.2367T>A (p.Tyr789Ter) c.2361T>A (p.Tyr787Ter) c.2310T>A (p.Tyr770Ter) c.2229T>A (p.Tyr743Ter) c.2308-222T>A (n.2308-222T>A) c.2151T>A (p.Tyr717Ter) c.2208+1167T>A (n.2208+1167T>A) c.1371T>A (p.Tyr457Ter) n.2647T>A | |
17 | g.39724827T>C | CA499670903 | ERBB2 | c.2409T>C (p.Tyr803=) c.2319T>C (p.Tyr773=) c.1581T>C (p.Tyr527=) c.2364T>C (p.Tyr788=) c.*2199T>C (n.*2199T>C) c.515T>C n.3543T>C n.2733T>C c.2547T>C (p.Tyr849=) c.2502T>C (p.Tyr834=) c.2457T>C (p.Tyr819=) c.2526T>C (p.Tyr842=) c.2511T>C (p.Tyr837=) c.2490T>C (p.Tyr830=) c.2484T>C (p.Tyr828=) c.2439T>C (p.Tyr813=) c.2430T>C (p.Tyr810=) c.2406T>C (p.Tyr802=) c.2400T>C (p.Tyr800=) c.2373T>C (p.Tyr791=) c.2367T>C (p.Tyr789=) c.2361T>C (p.Tyr787=) c.2310T>C (p.Tyr770=) c.2229T>C (p.Tyr743=) c.2308-222T>C (n.2308-222T>C) c.2151T>C (p.Tyr717=) c.2208+1167T>C (n.2208+1167T>C) c.1371T>C (p.Tyr457=) n.2647T>C | |
17 | g.39724827T>G | CA399303334 | ERBB2 | c.2409T>G (p.Tyr803Ter) c.2319T>G (p.Tyr773Ter) c.1581T>G (p.Tyr527Ter) c.2364T>G (p.Tyr788Ter) c.*2199T>G (n.*2199T>G) c.515T>G n.3543T>G n.2733T>G c.2547T>G (p.Tyr849Ter) c.2502T>G (p.Tyr834Ter) c.2457T>G (p.Tyr819Ter) c.2526T>G (p.Tyr842Ter) c.2511T>G (p.Tyr837Ter) c.2490T>G (p.Tyr830Ter) c.2484T>G (p.Tyr828Ter) c.2439T>G (p.Tyr813Ter) c.2430T>G (p.Tyr810Ter) c.2406T>G (p.Tyr802Ter) c.2400T>G (p.Tyr800Ter) c.2373T>G (p.Tyr791Ter) c.2367T>G (p.Tyr789Ter) c.2361T>G (p.Tyr787Ter) c.2310T>G (p.Tyr770Ter) c.2229T>G (p.Tyr743Ter) c.2308-222T>G (n.2308-222T>G) c.2151T>G (p.Tyr717Ter) c.2208+1167T>G (n.2208+1167T>G) c.1371T>G (p.Tyr457Ter) n.2647T>G | |
17 | g.39724828G>A | CA399303336 | ERBB2 | c.2410G>A (p.Gly804Ser) c.2320G>A (p.Gly774Ser) c.1582G>A (p.Gly528Ser) c.2365G>A (p.Gly789Ser) c.*2200G>A (n.*2200G>A) c.516G>A n.3544G>A n.2734G>A c.2548G>A (p.Gly850Ser) c.2503G>A (p.Gly835Ser) c.2458G>A (p.Gly820Ser) c.2527G>A (p.Gly843Ser) c.2512G>A (p.Gly838Ser) c.2491G>A (p.Gly831Ser) c.2485G>A (p.Gly829Ser) c.2440G>A (p.Gly814Ser) c.2431G>A (p.Gly811Ser) c.2407G>A (p.Gly803Ser) c.2401G>A (p.Gly801Ser) c.2374G>A (p.Gly792Ser) c.2368G>A (p.Gly790Ser) c.2362G>A (p.Gly788Ser) c.2311G>A (p.Gly771Ser) c.2230G>A (p.Gly744Ser) c.2308-221G>A (n.2308-221G>A) c.2152G>A (p.Gly718Ser) c.2208+1168G>A (n.2208+1168G>A) c.1372G>A (p.Gly458Ser) n.2648G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39724828G>C | CA399303339 | ERBB2 | c.2410G>C (p.Gly804Arg) c.2320G>C (p.Gly774Arg) c.1582G>C (p.Gly528Arg) c.2365G>C (p.Gly789Arg) c.*2200G>C (n.*2200G>C) c.516G>C n.3544G>C n.2734G>C c.2548G>C (p.Gly850Arg) c.2503G>C (p.Gly835Arg) c.2458G>C (p.Gly820Arg) c.2527G>C (p.Gly843Arg) c.2512G>C (p.Gly838Arg) c.2491G>C (p.Gly831Arg) c.2485G>C (p.Gly829Arg) c.2440G>C (p.Gly814Arg) c.2431G>C (p.Gly811Arg) c.2407G>C (p.Gly803Arg) c.2401G>C (p.Gly801Arg) c.2374G>C (p.Gly792Arg) c.2368G>C (p.Gly790Arg) c.2362G>C (p.Gly788Arg) c.2311G>C (p.Gly771Arg) c.2230G>C (p.Gly744Arg) c.2308-221G>C (n.2308-221G>C) c.2152G>C (p.Gly718Arg) c.2208+1168G>C (n.2208+1168G>C) c.1372G>C (p.Gly458Arg) n.2648G>C | dbSNP |
17 | g.39724828G= | CA2259228021 | ERBB2 | c.2410G= (p.Gly804=) c.2320G= (p.Gly774=) c.1582G= (p.Gly528=) c.2365G= (p.Gly789=) c.*2200G= (n.*2200G=) c.516G= n.3544G= n.2734G= c.2548G= (p.Gly850=) c.2503G= (p.Gly835=) c.2458G= (p.Gly820=) c.2527G= (p.Gly843=) c.2512G= (p.Gly838=) c.2491G= (p.Gly831=) c.2485G= (p.Gly829=) c.2440G= (p.Gly814=) c.2431G= (p.Gly811=) c.2407G= (p.Gly803=) c.2401G= (p.Gly801=) c.2374G= (p.Gly792=) c.2368G= (p.Gly790=) c.2362G= (p.Gly788=) c.2311G= (p.Gly771=) c.2230G= (p.Gly744=) c.2308-221G= (n.2308-221G=) c.2152G= (p.Gly718=) c.2208+1168G= (n.2208+1168G=) c.1372G= (p.Gly458=) n.2648G= | |
17 | g.39724828G>T | CA399303341 | ERBB2 | c.2410G>T (p.Gly804Cys) c.2320G>T (p.Gly774Cys) c.1582G>T (p.Gly528Cys) c.2365G>T (p.Gly789Cys) c.*2200G>T (n.*2200G>T) c.516G>T n.3544G>T n.2734G>T c.2548G>T (p.Gly850Cys) c.2503G>T (p.Gly835Cys) c.2458G>T (p.Gly820Cys) c.2527G>T (p.Gly843Cys) c.2512G>T (p.Gly838Cys) c.2491G>T (p.Gly831Cys) c.2485G>T (p.Gly829Cys) c.2440G>T (p.Gly814Cys) c.2431G>T (p.Gly811Cys) c.2407G>T (p.Gly803Cys) c.2401G>T (p.Gly801Cys) c.2374G>T (p.Gly792Cys) c.2368G>T (p.Gly790Cys) c.2362G>T (p.Gly788Cys) c.2311G>T (p.Gly771Cys) c.2230G>T (p.Gly744Cys) c.2308-221G>T (n.2308-221G>T) c.2152G>T (p.Gly718Cys) c.2208+1168G>T (n.2208+1168G>T) c.1372G>T (p.Gly458Cys) n.2648G>T | gnomAD v4 |
17 | g.39724829G>A | CA399303344 | ERBB2 | c.2411G>A (p.Gly804Asp) c.2321G>A (p.Gly774Asp) c.1583G>A (p.Gly528Asp) c.2366G>A (p.Gly789Asp) c.*2201G>A (n.*2201G>A) c.517G>A n.3545G>A n.2735G>A c.2549G>A (p.Gly850Asp) c.2504G>A (p.Gly835Asp) c.2459G>A (p.Gly820Asp) c.2528G>A (p.Gly843Asp) c.2513G>A (p.Gly838Asp) c.2492G>A (p.Gly831Asp) c.2486G>A (p.Gly829Asp) c.2441G>A (p.Gly814Asp) c.2432G>A (p.Gly811Asp) c.2408G>A (p.Gly803Asp) c.2402G>A (p.Gly801Asp) c.2375G>A (p.Gly792Asp) c.2369G>A (p.Gly790Asp) c.2363G>A (p.Gly788Asp) c.2312G>A (p.Gly771Asp) c.2231G>A (p.Gly744Asp) c.2308-220G>A (n.2308-220G>A) c.2153G>A (p.Gly718Asp) c.2208+1169G>A (n.2208+1169G>A) c.1373G>A (p.Gly458Asp) n.2649G>A | dbSNP |
17 | g.39724829G>C | CA399303346 | ERBB2 | c.2411G>C (p.Gly804Ala) c.2321G>C (p.Gly774Ala) c.1583G>C (p.Gly528Ala) c.2366G>C (p.Gly789Ala) c.*2201G>C (n.*2201G>C) c.517G>C n.3545G>C n.2735G>C c.2549G>C (p.Gly850Ala) c.2504G>C (p.Gly835Ala) c.2459G>C (p.Gly820Ala) c.2528G>C (p.Gly843Ala) c.2513G>C (p.Gly838Ala) c.2492G>C (p.Gly831Ala) c.2486G>C (p.Gly829Ala) c.2441G>C (p.Gly814Ala) c.2432G>C (p.Gly811Ala) c.2408G>C (p.Gly803Ala) c.2402G>C (p.Gly801Ala) c.2375G>C (p.Gly792Ala) c.2369G>C (p.Gly790Ala) c.2363G>C (p.Gly788Ala) c.2312G>C (p.Gly771Ala) c.2231G>C (p.Gly744Ala) c.2308-220G>C (n.2308-220G>C) c.2153G>C (p.Gly718Ala) c.2208+1169G>C (n.2208+1169G>C) c.1373G>C (p.Gly458Ala) n.2649G>C | dbSNP |
17 | g.39724829G>T | CA399303348 | ERBB2 | c.2411G>T (p.Gly804Val) c.2321G>T (p.Gly774Val) c.1583G>T (p.Gly528Val) c.2366G>T (p.Gly789Val) c.*2201G>T (n.*2201G>T) c.517G>T n.3545G>T n.2735G>T c.2549G>T (p.Gly850Val) c.2504G>T (p.Gly835Val) c.2459G>T (p.Gly820Val) c.2528G>T (p.Gly843Val) c.2513G>T (p.Gly838Val) c.2492G>T (p.Gly831Val) c.2486G>T (p.Gly829Val) c.2441G>T (p.Gly814Val) c.2432G>T (p.Gly811Val) c.2408G>T (p.Gly803Val) c.2402G>T (p.Gly801Val) c.2375G>T (p.Gly792Val) c.2369G>T (p.Gly790Val) c.2363G>T (p.Gly788Val) c.2312G>T (p.Gly771Val) c.2231G>T (p.Gly744Val) c.2308-220G>T (n.2308-220G>T) c.2153G>T (p.Gly718Val) c.2208+1169G>T (n.2208+1169G>T) c.1373G>T (p.Gly458Val) n.2649G>T | dbSNP |
17 | g.39724830C>A | CA499670904 | ERBB2 | c.2412C>A (p.Gly804=) c.2322C>A (p.Gly774=) c.1584C>A (p.Gly528=) c.2367C>A (p.Gly789=) c.*2202C>A (n.*2202C>A) c.518C>A n.3546C>A n.2736C>A c.2550C>A (p.Gly850=) c.2505C>A (p.Gly835=) c.2460C>A (p.Gly820=) c.2529C>A (p.Gly843=) c.2514C>A (p.Gly838=) c.2493C>A (p.Gly831=) c.2487C>A (p.Gly829=) c.2442C>A (p.Gly814=) c.2433C>A (p.Gly811=) c.2409C>A (p.Gly803=) c.2403C>A (p.Gly801=) c.2376C>A (p.Gly792=) c.2370C>A (p.Gly790=) c.2364C>A (p.Gly788=) c.2313C>A (p.Gly771=) c.2232C>A (p.Gly744=) c.2308-219C>A (n.2308-219C>A) c.2154C>A (p.Gly718=) c.2208+1170C>A (n.2208+1170C>A) c.1374C>A (p.Gly458=) n.2650C>A | dbSNP |
17 | g.39724830C= | CA2259228022 | ERBB2 | c.2412C= (p.Gly804=) c.2322C= (p.Gly774=) c.1584C= (p.Gly528=) c.2367C= (p.Gly789=) c.*2202C= (n.*2202C=) c.518C= n.3546C= n.2736C= c.2550C= (p.Gly850=) c.2505C= (p.Gly835=) c.2460C= (p.Gly820=) c.2529C= (p.Gly843=) c.2514C= (p.Gly838=) c.2493C= (p.Gly831=) c.2487C= (p.Gly829=) c.2442C= (p.Gly814=) c.2433C= (p.Gly811=) c.2409C= (p.Gly803=) c.2403C= (p.Gly801=) c.2376C= (p.Gly792=) c.2370C= (p.Gly790=) c.2364C= (p.Gly788=) c.2313C= (p.Gly771=) c.2232C= (p.Gly744=) c.2308-219C= (n.2308-219C=) c.2154C= (p.Gly718=) c.2208+1170C= (n.2208+1170C=) c.1374C= (p.Gly458=) n.2650C= | |
17 | g.39724830C>G | CA499670905 | ERBB2 | c.2412C>G (p.Gly804=) c.2322C>G (p.Gly774=) c.1584C>G (p.Gly528=) c.2367C>G (p.Gly789=) c.*2202C>G (n.*2202C>G) c.518C>G n.3546C>G n.2736C>G c.2550C>G (p.Gly850=) c.2505C>G (p.Gly835=) c.2460C>G (p.Gly820=) c.2529C>G (p.Gly843=) c.2514C>G (p.Gly838=) c.2493C>G (p.Gly831=) c.2487C>G (p.Gly829=) c.2442C>G (p.Gly814=) c.2433C>G (p.Gly811=) c.2409C>G (p.Gly803=) c.2403C>G (p.Gly801=) c.2376C>G (p.Gly792=) c.2370C>G (p.Gly790=) c.2364C>G (p.Gly788=) c.2313C>G (p.Gly771=) c.2232C>G (p.Gly744=) c.2308-219C>G (n.2308-219C>G) c.2154C>G (p.Gly718=) c.2208+1170C>G (n.2208+1170C>G) c.1374C>G (p.Gly458=) n.2650C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39724830C>T | CA499670906 | ERBB2 | c.2412C>T (p.Gly804=) c.2322C>T (p.Gly774=) c.1584C>T (p.Gly528=) c.2367C>T (p.Gly789=) c.*2202C>T (n.*2202C>T) c.518C>T n.3546C>T n.2736C>T c.2550C>T (p.Gly850=) c.2505C>T (p.Gly835=) c.2460C>T (p.Gly820=) c.2529C>T (p.Gly843=) c.2514C>T (p.Gly838=) c.2493C>T (p.Gly831=) c.2487C>T (p.Gly829=) c.2442C>T (p.Gly814=) c.2433C>T (p.Gly811=) c.2409C>T (p.Gly803=) c.2403C>T (p.Gly801=) c.2376C>T (p.Gly792=) c.2370C>T (p.Gly790=) c.2364C>T (p.Gly788=) c.2313C>T (p.Gly771=) c.2232C>T (p.Gly744=) c.2308-219C>T (n.2308-219C>T) c.2154C>T (p.Gly718=) c.2208+1170C>T (n.2208+1170C>T) c.1374C>T (p.Gly458=) n.2650C>T | dbSNP |
17 | g.39724831T>A | CA399303352 | ERBB2 | c.2413T>A (p.Cys805Ser) c.2323T>A (p.Cys775Ser) c.1585T>A (p.Cys529Ser) c.2368T>A (p.Cys790Ser) c.*2203T>A (n.*2203T>A) c.519T>A n.3547T>A n.2737T>A c.2551T>A (p.Cys851Ser) c.2506T>A (p.Cys836Ser) c.2461T>A (p.Cys821Ser) c.2530T>A (p.Cys844Ser) c.2515T>A (p.Cys839Ser) c.2494T>A (p.Cys832Ser) c.2488T>A (p.Cys830Ser) c.2443T>A (p.Cys815Ser) c.2434T>A (p.Cys812Ser) c.2410T>A (p.Cys804Ser) c.2404T>A (p.Cys802Ser) c.2377T>A (p.Cys793Ser) c.2371T>A (p.Cys791Ser) c.2365T>A (p.Cys789Ser) c.2314T>A (p.Cys772Ser) c.2233T>A (p.Cys745Ser) c.2308-218T>A (n.2308-218T>A) c.2155T>A (p.Cys719Ser) c.2208+1171T>A (n.2208+1171T>A) c.1375T>A (p.Cys459Ser) n.2651T>A | dbSNP |
17 | g.39724831T>C | CA399303354 | ERBB2 | c.2413T>C (p.Cys805Arg) c.2323T>C (p.Cys775Arg) c.1585T>C (p.Cys529Arg) c.2368T>C (p.Cys790Arg) c.*2203T>C (n.*2203T>C) c.519T>C n.3547T>C n.2737T>C c.2551T>C (p.Cys851Arg) c.2506T>C (p.Cys836Arg) c.2461T>C (p.Cys821Arg) c.2530T>C (p.Cys844Arg) c.2515T>C (p.Cys839Arg) c.2494T>C (p.Cys832Arg) c.2488T>C (p.Cys830Arg) c.2443T>C (p.Cys815Arg) c.2434T>C (p.Cys812Arg) c.2410T>C (p.Cys804Arg) c.2404T>C (p.Cys802Arg) c.2377T>C (p.Cys793Arg) c.2371T>C (p.Cys791Arg) c.2365T>C (p.Cys789Arg) c.2314T>C (p.Cys772Arg) c.2233T>C (p.Cys745Arg) c.2308-218T>C (n.2308-218T>C) c.2155T>C (p.Cys719Arg) c.2208+1171T>C (n.2208+1171T>C) c.1375T>C (p.Cys459Arg) n.2651T>C | |
17 | g.39724831T>G | CA399303357 | ERBB2 | c.2413T>G (p.Cys805Gly) c.2323T>G (p.Cys775Gly) c.1585T>G (p.Cys529Gly) c.2368T>G (p.Cys790Gly) c.*2203T>G (n.*2203T>G) c.519T>G n.3547T>G n.2737T>G c.2551T>G (p.Cys851Gly) c.2506T>G (p.Cys836Gly) c.2461T>G (p.Cys821Gly) c.2530T>G (p.Cys844Gly) c.2515T>G (p.Cys839Gly) c.2494T>G (p.Cys832Gly) c.2488T>G (p.Cys830Gly) c.2443T>G (p.Cys815Gly) c.2434T>G (p.Cys812Gly) c.2410T>G (p.Cys804Gly) c.2404T>G (p.Cys802Gly) c.2377T>G (p.Cys793Gly) c.2371T>G (p.Cys791Gly) c.2365T>G (p.Cys789Gly) c.2314T>G (p.Cys772Gly) c.2233T>G (p.Cys745Gly) c.2308-218T>G (n.2308-218T>G) c.2155T>G (p.Cys719Gly) c.2208+1171T>G (n.2208+1171T>G) c.1375T>G (p.Cys459Gly) n.2651T>G | |
17 | g.39724832G>A | CA399303364 | ERBB2 | c.2414G>A (p.Cys805Tyr) c.2324G>A (p.Cys775Tyr) c.1586G>A (p.Cys529Tyr) c.2369G>A (p.Cys790Tyr) c.*2204G>A (n.*2204G>A) c.520G>A n.3548G>A n.2738G>A c.2552G>A (p.Cys851Tyr) c.2507G>A (p.Cys836Tyr) c.2462G>A (p.Cys821Tyr) c.2531G>A (p.Cys844Tyr) c.2516G>A (p.Cys839Tyr) c.2495G>A (p.Cys832Tyr) c.2489G>A (p.Cys830Tyr) c.2444G>A (p.Cys815Tyr) c.2435G>A (p.Cys812Tyr) c.2411G>A (p.Cys804Tyr) c.2405G>A (p.Cys802Tyr) c.2378G>A (p.Cys793Tyr) c.2372G>A (p.Cys791Tyr) c.2366G>A (p.Cys789Tyr) c.2315G>A (p.Cys772Tyr) c.2234G>A (p.Cys745Tyr) c.2308-217G>A (n.2308-217G>A) c.2156G>A (p.Cys719Tyr) c.2208+1172G>A (n.2208+1172G>A) c.1376G>A (p.Cys459Tyr) n.2652G>A | dbSNP |
17 | g.39724832G>C | CA399303362 | ERBB2 | c.2414G>C (p.Cys805Ser) c.2324G>C (p.Cys775Ser) c.1586G>C (p.Cys529Ser) c.2369G>C (p.Cys790Ser) c.*2204G>C (n.*2204G>C) c.520G>C n.3548G>C n.2738G>C c.2552G>C (p.Cys851Ser) c.2507G>C (p.Cys836Ser) c.2462G>C (p.Cys821Ser) c.2531G>C (p.Cys844Ser) c.2516G>C (p.Cys839Ser) c.2495G>C (p.Cys832Ser) c.2489G>C (p.Cys830Ser) c.2444G>C (p.Cys815Ser) c.2435G>C (p.Cys812Ser) c.2411G>C (p.Cys804Ser) c.2405G>C (p.Cys802Ser) c.2378G>C (p.Cys793Ser) c.2372G>C (p.Cys791Ser) c.2366G>C (p.Cys789Ser) c.2315G>C (p.Cys772Ser) c.2234G>C (p.Cys745Ser) c.2308-217G>C (n.2308-217G>C) c.2156G>C (p.Cys719Ser) c.2208+1172G>C (n.2208+1172G>C) c.1376G>C (p.Cys459Ser) n.2652G>C | dbSNP |
17 | g.39724832G>T | CA399303359 | ERBB2 | c.2414G>T (p.Cys805Phe) c.2324G>T (p.Cys775Phe) c.1586G>T (p.Cys529Phe) c.2369G>T (p.Cys790Phe) c.*2204G>T (n.*2204G>T) c.520G>T n.3548G>T n.2738G>T c.2552G>T (p.Cys851Phe) c.2507G>T (p.Cys836Phe) c.2462G>T (p.Cys821Phe) c.2531G>T (p.Cys844Phe) c.2516G>T (p.Cys839Phe) c.2495G>T (p.Cys832Phe) c.2489G>T (p.Cys830Phe) c.2444G>T (p.Cys815Phe) c.2435G>T (p.Cys812Phe) c.2411G>T (p.Cys804Phe) c.2405G>T (p.Cys802Phe) c.2378G>T (p.Cys793Phe) c.2372G>T (p.Cys791Phe) c.2366G>T (p.Cys789Phe) c.2315G>T (p.Cys772Phe) c.2234G>T (p.Cys745Phe) c.2308-217G>T (n.2308-217G>T) c.2156G>T (p.Cys719Phe) c.2208+1172G>T (n.2208+1172G>T) c.1376G>T (p.Cys459Phe) n.2652G>T | dbSNP |
17 | g.39724833C>A | CA399303370 | ERBB2 | c.2415C>A (p.Cys805Ter) c.2325C>A (p.Cys775Ter) c.1587C>A (p.Cys529Ter) c.2370C>A (p.Cys790Ter) c.*2205C>A (n.*2205C>A) c.521C>A n.3549C>A n.2739C>A c.2553C>A (p.Cys851Ter) c.2508C>A (p.Cys836Ter) c.2463C>A (p.Cys821Ter) c.2532C>A (p.Cys844Ter) c.2517C>A (p.Cys839Ter) c.2496C>A (p.Cys832Ter) c.2490C>A (p.Cys830Ter) c.2445C>A (p.Cys815Ter) c.2436C>A (p.Cys812Ter) c.2412C>A (p.Cys804Ter) c.2406C>A (p.Cys802Ter) c.2379C>A (p.Cys793Ter) c.2373C>A (p.Cys791Ter) c.2367C>A (p.Cys789Ter) c.2316C>A (p.Cys772Ter) c.2235C>A (p.Cys745Ter) c.2308-216C>A (n.2308-216C>A) c.2157C>A (p.Cys719Ter) c.2208+1173C>A (n.2208+1173C>A) c.1377C>A (p.Cys459Ter) n.2653C>A | |
17 | g.39724833C= | CA2259228023 | ERBB2 | c.2415C= (p.Cys805=) c.2325C= (p.Cys775=) c.1587C= (p.Cys529=) c.2370C= (p.Cys790=) c.*2205C= (n.*2205C=) c.521C= n.3549C= n.2739C= c.2553C= (p.Cys851=) c.2508C= (p.Cys836=) c.2463C= (p.Cys821=) c.2532C= (p.Cys844=) c.2517C= (p.Cys839=) c.2496C= (p.Cys832=) c.2490C= (p.Cys830=) c.2445C= (p.Cys815=) c.2436C= (p.Cys812=) c.2412C= (p.Cys804=) c.2406C= (p.Cys802=) c.2379C= (p.Cys793=) c.2373C= (p.Cys791=) c.2367C= (p.Cys789=) c.2316C= (p.Cys772=) c.2235C= (p.Cys745=) c.2308-216C= (n.2308-216C=) c.2157C= (p.Cys719=) c.2208+1173C= (n.2208+1173C=) c.1377C= (p.Cys459=) n.2653C= | |
17 | g.39724833C>G | CA399303373 | ERBB2 | c.2415C>G (p.Cys805Trp) c.2325C>G (p.Cys775Trp) c.1587C>G (p.Cys529Trp) c.2370C>G (p.Cys790Trp) c.*2205C>G (n.*2205C>G) c.521C>G n.3549C>G n.2739C>G c.2553C>G (p.Cys851Trp) c.2508C>G (p.Cys836Trp) c.2463C>G (p.Cys821Trp) c.2532C>G (p.Cys844Trp) c.2517C>G (p.Cys839Trp) c.2496C>G (p.Cys832Trp) c.2490C>G (p.Cys830Trp) c.2445C>G (p.Cys815Trp) c.2436C>G (p.Cys812Trp) c.2412C>G (p.Cys804Trp) c.2406C>G (p.Cys802Trp) c.2379C>G (p.Cys793Trp) c.2373C>G (p.Cys791Trp) c.2367C>G (p.Cys789Trp) c.2316C>G (p.Cys772Trp) c.2235C>G (p.Cys745Trp) c.2308-216C>G (n.2308-216C>G) c.2157C>G (p.Cys719Trp) c.2208+1173C>G (n.2208+1173C>G) c.1377C>G (p.Cys459Trp) n.2653C>G | dbSNP |
17 | g.39724833C>T | CA499670907 | ERBB2 | c.2415C>T (p.Cys805=) c.2325C>T (p.Cys775=) c.1587C>T (p.Cys529=) c.2370C>T (p.Cys790=) c.*2205C>T (n.*2205C>T) c.521C>T n.3549C>T n.2739C>T c.2553C>T (p.Cys851=) c.2508C>T (p.Cys836=) c.2463C>T (p.Cys821=) c.2532C>T (p.Cys844=) c.2517C>T (p.Cys839=) c.2496C>T (p.Cys832=) c.2490C>T (p.Cys830=) c.2445C>T (p.Cys815=) c.2436C>T (p.Cys812=) c.2412C>T (p.Cys804=) c.2406C>T (p.Cys802=) c.2379C>T (p.Cys793=) c.2373C>T (p.Cys791=) c.2367C>T (p.Cys789=) c.2316C>T (p.Cys772=) c.2235C>T (p.Cys745=) c.2308-216C>T (n.2308-216C>T) c.2157C>T (p.Cys719=) c.2208+1173C>T (n.2208+1173C>T) c.1377C>T (p.Cys459=) n.2653C>T | gnomAD v4 |
17 | g.39724834C>A | CA399303377 | ERBB2 | c.2416C>A (p.Leu806Ile) c.2326C>A (p.Leu776Ile) c.1588C>A (p.Leu530Ile) c.2371C>A (p.Leu791Ile) c.*2206C>A (n.*2206C>A) c.522C>A n.3550C>A n.2740C>A c.2554C>A (p.Leu852Ile) c.2509C>A (p.Leu837Ile) c.2464C>A (p.Leu822Ile) c.2533C>A (p.Leu845Ile) c.2518C>A (p.Leu840Ile) c.2497C>A (p.Leu833Ile) c.2491C>A (p.Leu831Ile) c.2446C>A (p.Leu816Ile) c.2437C>A (p.Leu813Ile) c.2413C>A (p.Leu805Ile) c.2407C>A (p.Leu803Ile) c.2380C>A (p.Leu794Ile) c.2374C>A (p.Leu792Ile) c.2368C>A (p.Leu790Ile) c.2317C>A (p.Leu773Ile) c.2236C>A (p.Leu746Ile) c.2308-215C>A (n.2308-215C>A) c.2158C>A (p.Leu720Ile) c.2208+1174C>A (n.2208+1174C>A) c.1378C>A (p.Leu460Ile) n.2654C>A | dbSNP |
17 | g.39724834C>G | CA399303382 | ERBB2 | c.2416C>G (p.Leu806Val) c.2326C>G (p.Leu776Val) c.1588C>G (p.Leu530Val) c.2371C>G (p.Leu791Val) c.*2206C>G (n.*2206C>G) c.522C>G n.3550C>G n.2740C>G c.2554C>G (p.Leu852Val) c.2509C>G (p.Leu837Val) c.2464C>G (p.Leu822Val) c.2533C>G (p.Leu845Val) c.2518C>G (p.Leu840Val) c.2497C>G (p.Leu833Val) c.2491C>G (p.Leu831Val) c.2446C>G (p.Leu816Val) c.2437C>G (p.Leu813Val) c.2413C>G (p.Leu805Val) c.2407C>G (p.Leu803Val) c.2380C>G (p.Leu794Val) c.2374C>G (p.Leu792Val) c.2368C>G (p.Leu790Val) c.2317C>G (p.Leu773Val) c.2236C>G (p.Leu746Val) c.2308-215C>G (n.2308-215C>G) c.2158C>G (p.Leu720Val) c.2208+1174C>G (n.2208+1174C>G) c.1378C>G (p.Leu460Val) n.2654C>G | dbSNP |
17 | g.39724834C>T | CA399303380 | ERBB2 | c.2416C>T (p.Leu806Phe) c.2326C>T (p.Leu776Phe) c.1588C>T (p.Leu530Phe) c.2371C>T (p.Leu791Phe) c.*2206C>T (n.*2206C>T) c.522C>T n.3550C>T n.2740C>T c.2554C>T (p.Leu852Phe) c.2509C>T (p.Leu837Phe) c.2464C>T (p.Leu822Phe) c.2533C>T (p.Leu845Phe) c.2518C>T (p.Leu840Phe) c.2497C>T (p.Leu833Phe) c.2491C>T (p.Leu831Phe) c.2446C>T (p.Leu816Phe) c.2437C>T (p.Leu813Phe) c.2413C>T (p.Leu805Phe) c.2407C>T (p.Leu803Phe) c.2380C>T (p.Leu794Phe) c.2374C>T (p.Leu792Phe) c.2368C>T (p.Leu790Phe) c.2317C>T (p.Leu773Phe) c.2236C>T (p.Leu746Phe) c.2308-215C>T (n.2308-215C>T) c.2158C>T (p.Leu720Phe) c.2208+1174C>T (n.2208+1174C>T) c.1378C>T (p.Leu460Phe) n.2654C>T | dbSNP gnomAD v4 |
17 | g.39724835T>A | CA399303385 | ERBB2 | c.2417T>A (p.Leu806His) c.2327T>A (p.Leu776His) c.1589T>A (p.Leu530His) c.2372T>A (p.Leu791His) c.*2207T>A (n.*2207T>A) c.523T>A n.3551T>A n.2741T>A c.2555T>A (p.Leu852His) c.2510T>A (p.Leu837His) c.2465T>A (p.Leu822His) c.2534T>A (p.Leu845His) c.2519T>A (p.Leu840His) c.2498T>A (p.Leu833His) c.2492T>A (p.Leu831His) c.2447T>A (p.Leu816His) c.2438T>A (p.Leu813His) c.2414T>A (p.Leu805His) c.2408T>A (p.Leu803His) c.2381T>A (p.Leu794His) c.2375T>A (p.Leu792His) c.2369T>A (p.Leu790His) c.2318T>A (p.Leu773His) c.2237T>A (p.Leu746His) c.2308-214T>A (n.2308-214T>A) c.2159T>A (p.Leu720His) c.2208+1175T>A (n.2208+1175T>A) c.1379T>A (p.Leu460His) n.2655T>A | dbSNP |
17 | g.39724835T>C | CA399303392 | ERBB2 | c.2417T>C (p.Leu806Pro) c.2327T>C (p.Leu776Pro) c.1589T>C (p.Leu530Pro) c.2372T>C (p.Leu791Pro) c.*2207T>C (n.*2207T>C) c.523T>C n.3551T>C n.2741T>C c.2555T>C (p.Leu852Pro) c.2510T>C (p.Leu837Pro) c.2465T>C (p.Leu822Pro) c.2534T>C (p.Leu845Pro) c.2519T>C (p.Leu840Pro) c.2498T>C (p.Leu833Pro) c.2492T>C (p.Leu831Pro) c.2447T>C (p.Leu816Pro) c.2438T>C (p.Leu813Pro) c.2414T>C (p.Leu805Pro) c.2408T>C (p.Leu803Pro) c.2381T>C (p.Leu794Pro) c.2375T>C (p.Leu792Pro) c.2369T>C (p.Leu790Pro) c.2318T>C (p.Leu773Pro) c.2237T>C (p.Leu746Pro) c.2308-214T>C (n.2308-214T>C) c.2159T>C (p.Leu720Pro) c.2208+1175T>C (n.2208+1175T>C) c.1379T>C (p.Leu460Pro) n.2655T>C | dbSNP |
17 | g.39724835T>G | CA399303395 | ERBB2 | c.2417T>G (p.Leu806Arg) c.2327T>G (p.Leu776Arg) c.1589T>G (p.Leu530Arg) c.2372T>G (p.Leu791Arg) c.*2207T>G (n.*2207T>G) c.523T>G n.3551T>G n.2741T>G c.2555T>G (p.Leu852Arg) c.2510T>G (p.Leu837Arg) c.2465T>G (p.Leu822Arg) c.2534T>G (p.Leu845Arg) c.2519T>G (p.Leu840Arg) c.2498T>G (p.Leu833Arg) c.2492T>G (p.Leu831Arg) c.2447T>G (p.Leu816Arg) c.2438T>G (p.Leu813Arg) c.2414T>G (p.Leu805Arg) c.2408T>G (p.Leu803Arg) c.2381T>G (p.Leu794Arg) c.2375T>G (p.Leu792Arg) c.2369T>G (p.Leu790Arg) c.2318T>G (p.Leu773Arg) c.2237T>G (p.Leu746Arg) c.2308-214T>G (n.2308-214T>G) c.2159T>G (p.Leu720Arg) c.2208+1175T>G (n.2208+1175T>G) c.1379T>G (p.Leu460Arg) n.2655T>G | |
17 | g.39724836C>A | CA499670908 | ERBB2 | c.2418C>A (p.Leu806=) c.2328C>A (p.Leu776=) c.1590C>A (p.Leu530=) c.2373C>A (p.Leu791=) c.*2208C>A (n.*2208C>A) c.524C>A n.3552C>A n.2742C>A c.2556C>A (p.Leu852=) c.2511C>A (p.Leu837=) c.2466C>A (p.Leu822=) c.2535C>A (p.Leu845=) c.2520C>A (p.Leu840=) c.2499C>A (p.Leu833=) c.2493C>A (p.Leu831=) c.2448C>A (p.Leu816=) c.2439C>A (p.Leu813=) c.2415C>A (p.Leu805=) c.2409C>A (p.Leu803=) c.2382C>A (p.Leu794=) c.2376C>A (p.Leu792=) c.2370C>A (p.Leu790=) c.2319C>A (p.Leu773=) c.2238C>A (p.Leu746=) c.2308-213C>A (n.2308-213C>A) c.2160C>A (p.Leu720=) c.2208+1176C>A (n.2208+1176C>A) c.1380C>A (p.Leu460=) n.2656C>A | |
17 | g.39724836C>G | CA499670909 | ERBB2 | c.2418C>G (p.Leu806=) c.2328C>G (p.Leu776=) c.1590C>G (p.Leu530=) c.2373C>G (p.Leu791=) c.*2208C>G (n.*2208C>G) c.524C>G n.3552C>G n.2742C>G c.2556C>G (p.Leu852=) c.2511C>G (p.Leu837=) c.2466C>G (p.Leu822=) c.2535C>G (p.Leu845=) c.2520C>G (p.Leu840=) c.2499C>G (p.Leu833=) c.2493C>G (p.Leu831=) c.2448C>G (p.Leu816=) c.2439C>G (p.Leu813=) c.2415C>G (p.Leu805=) c.2409C>G (p.Leu803=) c.2382C>G (p.Leu794=) c.2376C>G (p.Leu792=) c.2370C>G (p.Leu790=) c.2319C>G (p.Leu773=) c.2238C>G (p.Leu746=) c.2308-213C>G (n.2308-213C>G) c.2160C>G (p.Leu720=) c.2208+1176C>G (n.2208+1176C>G) c.1380C>G (p.Leu460=) n.2656C>G | |
17 | g.39724836C>T | CA499670910 | ERBB2 | c.2418C>T (p.Leu806=) c.2328C>T (p.Leu776=) c.1590C>T (p.Leu530=) c.2373C>T (p.Leu791=) c.*2208C>T (n.*2208C>T) c.524C>T n.3552C>T n.2742C>T c.2556C>T (p.Leu852=) c.2511C>T (p.Leu837=) c.2466C>T (p.Leu822=) c.2535C>T (p.Leu845=) c.2520C>T (p.Leu840=) c.2499C>T (p.Leu833=) c.2493C>T (p.Leu831=) c.2448C>T (p.Leu816=) c.2439C>T (p.Leu813=) c.2415C>T (p.Leu805=) c.2409C>T (p.Leu803=) c.2382C>T (p.Leu794=) c.2376C>T (p.Leu792=) c.2370C>T (p.Leu790=) c.2319C>T (p.Leu773=) c.2238C>T (p.Leu746=) c.2308-213C>T (n.2308-213C>T) c.2160C>T (p.Leu720=) c.2208+1176C>T (n.2208+1176C>T) c.1380C>T (p.Leu460=) n.2656C>T | |
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 |