Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39725019_39725026del | CA2637621994 | ERBB2 | c.2494-30_2494-23del (n.2494-30_2494-23del) c.2404-30_2404-23del (n.2404-30_2404-23del) c.1666-30_1666-23del (n.1666-30_1666-23del) c.2449-30_2449-23del (n.2449-30_2449-23del) c.*2284-30_*2284-23del (n.*2284-30_*2284-23del) c.600-30_600-23del n.3628-30_3628-23del n.2818-30_2818-23del c.2632-30_2632-23del (n.2632-30_2632-23del) c.2587-30_2587-23del (n.2587-30_2587-23del) c.2542-30_2542-23del (n.2542-30_2542-23del) c.2611-30_2611-23del (n.2611-30_2611-23del) c.2596-30_2596-23del (n.2596-30_2596-23del) c.2575-30_2575-23del (n.2575-30_2575-23del) c.2569-30_2569-23del (n.2569-30_2569-23del) c.2524-30_2524-23del (n.2524-30_2524-23del) c.2515-30_2515-23del (n.2515-30_2515-23del) c.2491-30_2491-23del (n.2491-30_2491-23del) c.2485-30_2485-23del (n.2485-30_2485-23del) c.2458-30_2458-23del (n.2458-30_2458-23del) c.2452-30_2452-23del (n.2452-30_2452-23del) c.2446-30_2446-23del (n.2446-30_2446-23del) c.2395-30_2395-23del (n.2395-30_2395-23del) c.2493+108_2493+115del (n.2493+108_2493+115del) c.2314-30_2314-23del (n.2314-30_2314-23del) c.2308-30_2308-23del (n.2308-30_2308-23del) c.2445+108_2445+115del (n.2445+108_2445+115del) c.2236-30_2236-23del (n.2236-30_2236-23del) c.2208+1359_2208+1366del (n.2208+1359_2208+1366del) c.1456-30_1456-23del (n.1456-30_1456-23del) n.2732-30_2732-23del | gnomAD v4 |
17 | g.39725023G>A | CA626209380 | ERBB2 | c.2494-26G>A (n.2494-26G>A) c.2404-26G>A (n.2404-26G>A) c.1666-26G>A (n.1666-26G>A) c.2449-26G>A (n.2449-26G>A) c.*2284-26G>A (n.*2284-26G>A) c.600-26G>A n.3628-26G>A n.2818-26G>A c.2632-26G>A (n.2632-26G>A) c.2587-26G>A (n.2587-26G>A) c.2542-26G>A (n.2542-26G>A) c.2611-26G>A (n.2611-26G>A) c.2596-26G>A (n.2596-26G>A) c.2575-26G>A (n.2575-26G>A) c.2569-26G>A (n.2569-26G>A) c.2524-26G>A (n.2524-26G>A) c.2515-26G>A (n.2515-26G>A) c.2491-26G>A (n.2491-26G>A) c.2485-26G>A (n.2485-26G>A) c.2458-26G>A (n.2458-26G>A) c.2452-26G>A (n.2452-26G>A) c.2446-26G>A (n.2446-26G>A) c.2395-26G>A (n.2395-26G>A) c.2493+112G>A (n.2493+112G>A) c.2314-26G>A (n.2314-26G>A) c.2308-26G>A (n.2308-26G>A) c.2445+112G>A (n.2445+112G>A) c.2236-26G>A (n.2236-26G>A) c.2208+1363G>A (n.2208+1363G>A) c.1456-26G>A (n.1456-26G>A) n.2732-26G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39725023G= | CA2259228108 | ERBB2 | c.2494-26G= (n.2494-26G=) c.2404-26G= (n.2404-26G=) c.1666-26G= (n.1666-26G=) c.2449-26G= (n.2449-26G=) c.*2284-26G= (n.*2284-26G=) c.600-26G= n.3628-26G= n.2818-26G= c.2632-26G= (n.2632-26G=) c.2587-26G= (n.2587-26G=) c.2542-26G= (n.2542-26G=) c.2611-26G= (n.2611-26G=) c.2596-26G= (n.2596-26G=) c.2575-26G= (n.2575-26G=) c.2569-26G= (n.2569-26G=) c.2524-26G= (n.2524-26G=) c.2515-26G= (n.2515-26G=) c.2491-26G= (n.2491-26G=) c.2485-26G= (n.2485-26G=) c.2458-26G= (n.2458-26G=) c.2452-26G= (n.2452-26G=) c.2446-26G= (n.2446-26G=) c.2395-26G= (n.2395-26G=) c.2493+112G= (n.2493+112G=) c.2314-26G= (n.2314-26G=) c.2308-26G= (n.2308-26G=) c.2445+112G= (n.2445+112G=) c.2236-26G= (n.2236-26G=) c.2208+1363G= (n.2208+1363G=) c.1456-26G= (n.1456-26G=) n.2732-26G= | |
17 | g.39725023G>T | CA626209381 | ERBB2 | c.2494-26G>T (n.2494-26G>T) c.2404-26G>T (n.2404-26G>T) c.1666-26G>T (n.1666-26G>T) c.2449-26G>T (n.2449-26G>T) c.*2284-26G>T (n.*2284-26G>T) c.600-26G>T n.3628-26G>T n.2818-26G>T c.2632-26G>T (n.2632-26G>T) c.2587-26G>T (n.2587-26G>T) c.2542-26G>T (n.2542-26G>T) c.2611-26G>T (n.2611-26G>T) c.2596-26G>T (n.2596-26G>T) c.2575-26G>T (n.2575-26G>T) c.2569-26G>T (n.2569-26G>T) c.2524-26G>T (n.2524-26G>T) c.2515-26G>T (n.2515-26G>T) c.2491-26G>T (n.2491-26G>T) c.2485-26G>T (n.2485-26G>T) c.2458-26G>T (n.2458-26G>T) c.2452-26G>T (n.2452-26G>T) c.2446-26G>T (n.2446-26G>T) c.2395-26G>T (n.2395-26G>T) c.2493+112G>T (n.2493+112G>T) c.2314-26G>T (n.2314-26G>T) c.2308-26G>T (n.2308-26G>T) c.2445+112G>T (n.2445+112G>T) c.2236-26G>T (n.2236-26G>T) c.2208+1363G>T (n.2208+1363G>T) c.1456-26G>T (n.1456-26G>T) n.2732-26G>T | dbSNP gnomAD v2 |
17 | g.39725024T>A | CA2733616103 | ERBB2 | c.2494-25T>A (n.2494-25T>A) c.2404-25T>A (n.2404-25T>A) c.1666-25T>A (n.1666-25T>A) c.2449-25T>A (n.2449-25T>A) c.*2284-25T>A (n.*2284-25T>A) c.600-25T>A n.3628-25T>A n.2818-25T>A c.2632-25T>A (n.2632-25T>A) c.2587-25T>A (n.2587-25T>A) c.2542-25T>A (n.2542-25T>A) c.2611-25T>A (n.2611-25T>A) c.2596-25T>A (n.2596-25T>A) c.2575-25T>A (n.2575-25T>A) c.2569-25T>A (n.2569-25T>A) c.2524-25T>A (n.2524-25T>A) c.2515-25T>A (n.2515-25T>A) c.2491-25T>A (n.2491-25T>A) c.2485-25T>A (n.2485-25T>A) c.2458-25T>A (n.2458-25T>A) c.2452-25T>A (n.2452-25T>A) c.2446-25T>A (n.2446-25T>A) c.2395-25T>A (n.2395-25T>A) c.2493+113T>A (n.2493+113T>A) c.2314-25T>A (n.2314-25T>A) c.2308-25T>A (n.2308-25T>A) c.2445+113T>A (n.2445+113T>A) c.2236-25T>A (n.2236-25T>A) c.2208+1364T>A (n.2208+1364T>A) c.1456-25T>A (n.1456-25T>A) n.2732-25T>A | dbSNP |
17 | g.39725024T>C | CA2733616105 | ERBB2 | c.2494-25T>C (n.2494-25T>C) c.2404-25T>C (n.2404-25T>C) c.1666-25T>C (n.1666-25T>C) c.2449-25T>C (n.2449-25T>C) c.*2284-25T>C (n.*2284-25T>C) c.600-25T>C n.3628-25T>C n.2818-25T>C c.2632-25T>C (n.2632-25T>C) c.2587-25T>C (n.2587-25T>C) c.2542-25T>C (n.2542-25T>C) c.2611-25T>C (n.2611-25T>C) c.2596-25T>C (n.2596-25T>C) c.2575-25T>C (n.2575-25T>C) c.2569-25T>C (n.2569-25T>C) c.2524-25T>C (n.2524-25T>C) c.2515-25T>C (n.2515-25T>C) c.2491-25T>C (n.2491-25T>C) c.2485-25T>C (n.2485-25T>C) c.2458-25T>C (n.2458-25T>C) c.2452-25T>C (n.2452-25T>C) c.2446-25T>C (n.2446-25T>C) c.2395-25T>C (n.2395-25T>C) c.2493+113T>C (n.2493+113T>C) c.2314-25T>C (n.2314-25T>C) c.2308-25T>C (n.2308-25T>C) c.2445+113T>C (n.2445+113T>C) c.2236-25T>C (n.2236-25T>C) c.2208+1364T>C (n.2208+1364T>C) c.1456-25T>C (n.1456-25T>C) n.2732-25T>C | dbSNP |
17 | g.39725024T>G | CA2733616109 | ERBB2 | c.2494-25T>G (n.2494-25T>G) c.2404-25T>G (n.2404-25T>G) c.1666-25T>G (n.1666-25T>G) c.2449-25T>G (n.2449-25T>G) c.*2284-25T>G (n.*2284-25T>G) c.600-25T>G n.3628-25T>G n.2818-25T>G c.2632-25T>G (n.2632-25T>G) c.2587-25T>G (n.2587-25T>G) c.2542-25T>G (n.2542-25T>G) c.2611-25T>G (n.2611-25T>G) c.2596-25T>G (n.2596-25T>G) c.2575-25T>G (n.2575-25T>G) c.2569-25T>G (n.2569-25T>G) c.2524-25T>G (n.2524-25T>G) c.2515-25T>G (n.2515-25T>G) c.2491-25T>G (n.2491-25T>G) c.2485-25T>G (n.2485-25T>G) c.2458-25T>G (n.2458-25T>G) c.2452-25T>G (n.2452-25T>G) c.2446-25T>G (n.2446-25T>G) c.2395-25T>G (n.2395-25T>G) c.2493+113T>G (n.2493+113T>G) c.2314-25T>G (n.2314-25T>G) c.2308-25T>G (n.2308-25T>G) c.2445+113T>G (n.2445+113T>G) c.2236-25T>G (n.2236-25T>G) c.2208+1364T>G (n.2208+1364T>G) c.1456-25T>G (n.1456-25T>G) n.2732-25T>G | dbSNP |
17 | g.39725024_39725028del | CA2637622010 | ERBB2 | c.2494-25_2494-21del (n.2494-25_2494-21del) c.2404-25_2404-21del (n.2404-25_2404-21del) c.1666-25_1666-21del (n.1666-25_1666-21del) c.2449-25_2449-21del (n.2449-25_2449-21del) c.*2284-25_*2284-21del (n.*2284-25_*2284-21del) c.600-25_600-21del n.3628-25_3628-21del n.2818-25_2818-21del c.2632-25_2632-21del (n.2632-25_2632-21del) c.2587-25_2587-21del (n.2587-25_2587-21del) c.2542-25_2542-21del (n.2542-25_2542-21del) c.2611-25_2611-21del (n.2611-25_2611-21del) c.2596-25_2596-21del (n.2596-25_2596-21del) c.2575-25_2575-21del (n.2575-25_2575-21del) c.2569-25_2569-21del (n.2569-25_2569-21del) c.2524-25_2524-21del (n.2524-25_2524-21del) c.2515-25_2515-21del (n.2515-25_2515-21del) c.2491-25_2491-21del (n.2491-25_2491-21del) c.2485-25_2485-21del (n.2485-25_2485-21del) c.2458-25_2458-21del (n.2458-25_2458-21del) c.2452-25_2452-21del (n.2452-25_2452-21del) c.2446-25_2446-21del (n.2446-25_2446-21del) c.2395-25_2395-21del (n.2395-25_2395-21del) c.2493+113_2493+117del (n.2493+113_2493+117del) c.2314-25_2314-21del (n.2314-25_2314-21del) c.2308-25_2308-21del (n.2308-25_2308-21del) c.2445+113_2445+117del (n.2445+113_2445+117del) c.2236-25_2236-21del (n.2236-25_2236-21del) c.2208+1364_2208+1368del (n.2208+1364_2208+1368del) c.1456-25_1456-21del (n.1456-25_1456-21del) n.2732-25_2732-21del | gnomAD v4 |
17 | g.39725025C>A | CA2733616113 | ERBB2 | c.2494-24C>A (n.2494-24C>A) c.2404-24C>A (n.2404-24C>A) c.1666-24C>A (n.1666-24C>A) c.2449-24C>A (n.2449-24C>A) c.*2284-24C>A (n.*2284-24C>A) c.600-24C>A n.3628-24C>A n.2818-24C>A c.2632-24C>A (n.2632-24C>A) c.2587-24C>A (n.2587-24C>A) c.2542-24C>A (n.2542-24C>A) c.2611-24C>A (n.2611-24C>A) c.2596-24C>A (n.2596-24C>A) c.2575-24C>A (n.2575-24C>A) c.2569-24C>A (n.2569-24C>A) c.2524-24C>A (n.2524-24C>A) c.2515-24C>A (n.2515-24C>A) c.2491-24C>A (n.2491-24C>A) c.2485-24C>A (n.2485-24C>A) c.2458-24C>A (n.2458-24C>A) c.2452-24C>A (n.2452-24C>A) c.2446-24C>A (n.2446-24C>A) c.2395-24C>A (n.2395-24C>A) c.2493+114C>A (n.2493+114C>A) c.2314-24C>A (n.2314-24C>A) c.2308-24C>A (n.2308-24C>A) c.2445+114C>A (n.2445+114C>A) c.2236-24C>A (n.2236-24C>A) c.2208+1365C>A (n.2208+1365C>A) c.1456-24C>A (n.1456-24C>A) n.2732-24C>A | dbSNP |
17 | g.39725025C>G | CA2733616119 | ERBB2 | c.2494-24C>G (n.2494-24C>G) c.2404-24C>G (n.2404-24C>G) c.1666-24C>G (n.1666-24C>G) c.2449-24C>G (n.2449-24C>G) c.*2284-24C>G (n.*2284-24C>G) c.600-24C>G n.3628-24C>G n.2818-24C>G c.2632-24C>G (n.2632-24C>G) c.2587-24C>G (n.2587-24C>G) c.2542-24C>G (n.2542-24C>G) c.2611-24C>G (n.2611-24C>G) c.2596-24C>G (n.2596-24C>G) c.2575-24C>G (n.2575-24C>G) c.2569-24C>G (n.2569-24C>G) c.2524-24C>G (n.2524-24C>G) c.2515-24C>G (n.2515-24C>G) c.2491-24C>G (n.2491-24C>G) c.2485-24C>G (n.2485-24C>G) c.2458-24C>G (n.2458-24C>G) c.2452-24C>G (n.2452-24C>G) c.2446-24C>G (n.2446-24C>G) c.2395-24C>G (n.2395-24C>G) c.2493+114C>G (n.2493+114C>G) c.2314-24C>G (n.2314-24C>G) c.2308-24C>G (n.2308-24C>G) c.2445+114C>G (n.2445+114C>G) c.2236-24C>G (n.2236-24C>G) c.2208+1365C>G (n.2208+1365C>G) c.1456-24C>G (n.1456-24C>G) n.2732-24C>G | dbSNP |
17 | g.39725025C>T | CA2733616121 | ERBB2 | c.2494-24C>T (n.2494-24C>T) c.2404-24C>T (n.2404-24C>T) c.1666-24C>T (n.1666-24C>T) c.2449-24C>T (n.2449-24C>T) c.*2284-24C>T (n.*2284-24C>T) c.600-24C>T n.3628-24C>T n.2818-24C>T c.2632-24C>T (n.2632-24C>T) c.2587-24C>T (n.2587-24C>T) c.2542-24C>T (n.2542-24C>T) c.2611-24C>T (n.2611-24C>T) c.2596-24C>T (n.2596-24C>T) c.2575-24C>T (n.2575-24C>T) c.2569-24C>T (n.2569-24C>T) c.2524-24C>T (n.2524-24C>T) c.2515-24C>T (n.2515-24C>T) c.2491-24C>T (n.2491-24C>T) c.2485-24C>T (n.2485-24C>T) c.2458-24C>T (n.2458-24C>T) c.2452-24C>T (n.2452-24C>T) c.2446-24C>T (n.2446-24C>T) c.2395-24C>T (n.2395-24C>T) c.2493+114C>T (n.2493+114C>T) c.2314-24C>T (n.2314-24C>T) c.2308-24C>T (n.2308-24C>T) c.2445+114C>T (n.2445+114C>T) c.2236-24C>T (n.2236-24C>T) c.2208+1365C>T (n.2208+1365C>T) c.1456-24C>T (n.1456-24C>T) n.2732-24C>T | dbSNP |
17 | g.39725026T>A | CA2733616122 | ERBB2 | c.2494-23T>A (n.2494-23T>A) c.2404-23T>A (n.2404-23T>A) c.1666-23T>A (n.1666-23T>A) c.2449-23T>A (n.2449-23T>A) c.*2284-23T>A (n.*2284-23T>A) c.600-23T>A n.3628-23T>A n.2818-23T>A c.2632-23T>A (n.2632-23T>A) c.2587-23T>A (n.2587-23T>A) c.2542-23T>A (n.2542-23T>A) c.2611-23T>A (n.2611-23T>A) c.2596-23T>A (n.2596-23T>A) c.2575-23T>A (n.2575-23T>A) c.2569-23T>A (n.2569-23T>A) c.2524-23T>A (n.2524-23T>A) c.2515-23T>A (n.2515-23T>A) c.2491-23T>A (n.2491-23T>A) c.2485-23T>A (n.2485-23T>A) c.2458-23T>A (n.2458-23T>A) c.2452-23T>A (n.2452-23T>A) c.2446-23T>A (n.2446-23T>A) c.2395-23T>A (n.2395-23T>A) c.2493+115T>A (n.2493+115T>A) c.2314-23T>A (n.2314-23T>A) c.2308-23T>A (n.2308-23T>A) c.2445+115T>A (n.2445+115T>A) c.2236-23T>A (n.2236-23T>A) c.2208+1366T>A (n.2208+1366T>A) c.1456-23T>A (n.1456-23T>A) n.2732-23T>A | dbSNP |
17 | g.39725026T>C | CA2733616132 | ERBB2 | c.2494-23T>C (n.2494-23T>C) c.2404-23T>C (n.2404-23T>C) c.1666-23T>C (n.1666-23T>C) c.2449-23T>C (n.2449-23T>C) c.*2284-23T>C (n.*2284-23T>C) c.600-23T>C n.3628-23T>C n.2818-23T>C c.2632-23T>C (n.2632-23T>C) c.2587-23T>C (n.2587-23T>C) c.2542-23T>C (n.2542-23T>C) c.2611-23T>C (n.2611-23T>C) c.2596-23T>C (n.2596-23T>C) c.2575-23T>C (n.2575-23T>C) c.2569-23T>C (n.2569-23T>C) c.2524-23T>C (n.2524-23T>C) c.2515-23T>C (n.2515-23T>C) c.2491-23T>C (n.2491-23T>C) c.2485-23T>C (n.2485-23T>C) c.2458-23T>C (n.2458-23T>C) c.2452-23T>C (n.2452-23T>C) c.2446-23T>C (n.2446-23T>C) c.2395-23T>C (n.2395-23T>C) c.2493+115T>C (n.2493+115T>C) c.2314-23T>C (n.2314-23T>C) c.2308-23T>C (n.2308-23T>C) c.2445+115T>C (n.2445+115T>C) c.2236-23T>C (n.2236-23T>C) c.2208+1366T>C (n.2208+1366T>C) c.1456-23T>C (n.1456-23T>C) n.2732-23T>C | dbSNP |
17 | g.39725027A= | CA2259228109 | ERBB2 | c.2494-22A= (n.2494-22A=) c.2404-22A= (n.2404-22A=) c.1666-22A= (n.1666-22A=) c.2449-22A= (n.2449-22A=) c.*2284-22A= (n.*2284-22A=) c.600-22A= n.3628-22A= n.2818-22A= c.2632-22A= (n.2632-22A=) c.2587-22A= (n.2587-22A=) c.2542-22A= (n.2542-22A=) c.2611-22A= (n.2611-22A=) c.2596-22A= (n.2596-22A=) c.2575-22A= (n.2575-22A=) c.2569-22A= (n.2569-22A=) c.2524-22A= (n.2524-22A=) c.2515-22A= (n.2515-22A=) c.2491-22A= (n.2491-22A=) c.2485-22A= (n.2485-22A=) c.2458-22A= (n.2458-22A=) c.2452-22A= (n.2452-22A=) c.2446-22A= (n.2446-22A=) c.2395-22A= (n.2395-22A=) c.2493+116A= (n.2493+116A=) c.2314-22A= (n.2314-22A=) c.2308-22A= (n.2308-22A=) c.2445+116A= (n.2445+116A=) c.2236-22A= (n.2236-22A=) c.2208+1367A= (n.2208+1367A=) c.1456-22A= (n.1456-22A=) n.2732-22A= | |
17 | g.39725027A>C | CA2733220625 | ERBB2 | c.2494-22A>C (n.2494-22A>C) c.2404-22A>C (n.2404-22A>C) c.1666-22A>C (n.1666-22A>C) c.2449-22A>C (n.2449-22A>C) c.*2284-22A>C (n.*2284-22A>C) c.600-22A>C n.3628-22A>C n.2818-22A>C c.2632-22A>C (n.2632-22A>C) c.2587-22A>C (n.2587-22A>C) c.2542-22A>C (n.2542-22A>C) c.2611-22A>C (n.2611-22A>C) c.2596-22A>C (n.2596-22A>C) c.2575-22A>C (n.2575-22A>C) c.2569-22A>C (n.2569-22A>C) c.2524-22A>C (n.2524-22A>C) c.2515-22A>C (n.2515-22A>C) c.2491-22A>C (n.2491-22A>C) c.2485-22A>C (n.2485-22A>C) c.2458-22A>C (n.2458-22A>C) c.2452-22A>C (n.2452-22A>C) c.2446-22A>C (n.2446-22A>C) c.2395-22A>C (n.2395-22A>C) c.2493+116A>C (n.2493+116A>C) c.2314-22A>C (n.2314-22A>C) c.2308-22A>C (n.2308-22A>C) c.2445+116A>C (n.2445+116A>C) c.2236-22A>C (n.2236-22A>C) c.2208+1367A>C (n.2208+1367A>C) c.1456-22A>C (n.1456-22A>C) n.2732-22A>C | dbSNP |
17 | g.39725027A>G | CA290440840 | ERBB2 | c.2494-22A>G (n.2494-22A>G) c.2404-22A>G (n.2404-22A>G) c.1666-22A>G (n.1666-22A>G) c.2449-22A>G (n.2449-22A>G) c.*2284-22A>G (n.*2284-22A>G) c.600-22A>G n.3628-22A>G n.2818-22A>G c.2632-22A>G (n.2632-22A>G) c.2587-22A>G (n.2587-22A>G) c.2542-22A>G (n.2542-22A>G) c.2611-22A>G (n.2611-22A>G) c.2596-22A>G (n.2596-22A>G) c.2575-22A>G (n.2575-22A>G) c.2569-22A>G (n.2569-22A>G) c.2524-22A>G (n.2524-22A>G) c.2515-22A>G (n.2515-22A>G) c.2491-22A>G (n.2491-22A>G) c.2485-22A>G (n.2485-22A>G) c.2458-22A>G (n.2458-22A>G) c.2452-22A>G (n.2452-22A>G) c.2446-22A>G (n.2446-22A>G) c.2395-22A>G (n.2395-22A>G) c.2493+116A>G (n.2493+116A>G) c.2314-22A>G (n.2314-22A>G) c.2308-22A>G (n.2308-22A>G) c.2445+116A>G (n.2445+116A>G) c.2236-22A>G (n.2236-22A>G) c.2208+1367A>G (n.2208+1367A>G) c.1456-22A>G (n.1456-22A>G) n.2732-22A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725027A>T | CA2733220624 | ERBB2 | c.2494-22A>T (n.2494-22A>T) c.2404-22A>T (n.2404-22A>T) c.1666-22A>T (n.1666-22A>T) c.2449-22A>T (n.2449-22A>T) c.*2284-22A>T (n.*2284-22A>T) c.600-22A>T n.3628-22A>T n.2818-22A>T c.2632-22A>T (n.2632-22A>T) c.2587-22A>T (n.2587-22A>T) c.2542-22A>T (n.2542-22A>T) c.2611-22A>T (n.2611-22A>T) c.2596-22A>T (n.2596-22A>T) c.2575-22A>T (n.2575-22A>T) c.2569-22A>T (n.2569-22A>T) c.2524-22A>T (n.2524-22A>T) c.2515-22A>T (n.2515-22A>T) c.2491-22A>T (n.2491-22A>T) c.2485-22A>T (n.2485-22A>T) c.2458-22A>T (n.2458-22A>T) c.2452-22A>T (n.2452-22A>T) c.2446-22A>T (n.2446-22A>T) c.2395-22A>T (n.2395-22A>T) c.2493+116A>T (n.2493+116A>T) c.2314-22A>T (n.2314-22A>T) c.2308-22A>T (n.2308-22A>T) c.2445+116A>T (n.2445+116A>T) c.2236-22A>T (n.2236-22A>T) c.2208+1367A>T (n.2208+1367A>T) c.1456-22A>T (n.1456-22A>T) n.2732-22A>T | dbSNP |
17 | g.39725028C>A | CA2733616137 | ERBB2 | c.2494-21C>A (n.2494-21C>A) c.2404-21C>A (n.2404-21C>A) c.1666-21C>A (n.1666-21C>A) c.2449-21C>A (n.2449-21C>A) c.*2284-21C>A (n.*2284-21C>A) c.600-21C>A n.3628-21C>A n.2818-21C>A c.2632-21C>A (n.2632-21C>A) c.2587-21C>A (n.2587-21C>A) c.2542-21C>A (n.2542-21C>A) c.2611-21C>A (n.2611-21C>A) c.2596-21C>A (n.2596-21C>A) c.2575-21C>A (n.2575-21C>A) c.2569-21C>A (n.2569-21C>A) c.2524-21C>A (n.2524-21C>A) c.2515-21C>A (n.2515-21C>A) c.2491-21C>A (n.2491-21C>A) c.2485-21C>A (n.2485-21C>A) c.2458-21C>A (n.2458-21C>A) c.2452-21C>A (n.2452-21C>A) c.2446-21C>A (n.2446-21C>A) c.2395-21C>A (n.2395-21C>A) c.2493+117C>A (n.2493+117C>A) c.2314-21C>A (n.2314-21C>A) c.2308-21C>A (n.2308-21C>A) c.2445+117C>A (n.2445+117C>A) c.2236-21C>A (n.2236-21C>A) c.2208+1368C>A (n.2208+1368C>A) c.1456-21C>A (n.1456-21C>A) n.2732-21C>A | dbSNP |
17 | g.39725028C>G | CA2733616138 | ERBB2 | c.2494-21C>G (n.2494-21C>G) c.2404-21C>G (n.2404-21C>G) c.1666-21C>G (n.1666-21C>G) c.2449-21C>G (n.2449-21C>G) c.*2284-21C>G (n.*2284-21C>G) c.600-21C>G n.3628-21C>G n.2818-21C>G c.2632-21C>G (n.2632-21C>G) c.2587-21C>G (n.2587-21C>G) c.2542-21C>G (n.2542-21C>G) c.2611-21C>G (n.2611-21C>G) c.2596-21C>G (n.2596-21C>G) c.2575-21C>G (n.2575-21C>G) c.2569-21C>G (n.2569-21C>G) c.2524-21C>G (n.2524-21C>G) c.2515-21C>G (n.2515-21C>G) c.2491-21C>G (n.2491-21C>G) c.2485-21C>G (n.2485-21C>G) c.2458-21C>G (n.2458-21C>G) c.2452-21C>G (n.2452-21C>G) c.2446-21C>G (n.2446-21C>G) c.2395-21C>G (n.2395-21C>G) c.2493+117C>G (n.2493+117C>G) c.2314-21C>G (n.2314-21C>G) c.2308-21C>G (n.2308-21C>G) c.2445+117C>G (n.2445+117C>G) c.2236-21C>G (n.2236-21C>G) c.2208+1368C>G (n.2208+1368C>G) c.1456-21C>G (n.1456-21C>G) n.2732-21C>G | dbSNP |
17 | g.39725028C>T | CA2733616151 | ERBB2 | c.2494-21C>T (n.2494-21C>T) c.2404-21C>T (n.2404-21C>T) c.1666-21C>T (n.1666-21C>T) c.2449-21C>T (n.2449-21C>T) c.*2284-21C>T (n.*2284-21C>T) c.600-21C>T n.3628-21C>T n.2818-21C>T c.2632-21C>T (n.2632-21C>T) c.2587-21C>T (n.2587-21C>T) c.2542-21C>T (n.2542-21C>T) c.2611-21C>T (n.2611-21C>T) c.2596-21C>T (n.2596-21C>T) c.2575-21C>T (n.2575-21C>T) c.2569-21C>T (n.2569-21C>T) c.2524-21C>T (n.2524-21C>T) c.2515-21C>T (n.2515-21C>T) c.2491-21C>T (n.2491-21C>T) c.2485-21C>T (n.2485-21C>T) c.2458-21C>T (n.2458-21C>T) c.2452-21C>T (n.2452-21C>T) c.2446-21C>T (n.2446-21C>T) c.2395-21C>T (n.2395-21C>T) c.2493+117C>T (n.2493+117C>T) c.2314-21C>T (n.2314-21C>T) c.2308-21C>T (n.2308-21C>T) c.2445+117C>T (n.2445+117C>T) c.2236-21C>T (n.2236-21C>T) c.2208+1368C>T (n.2208+1368C>T) c.1456-21C>T (n.1456-21C>T) n.2732-21C>T | dbSNP |
17 | g.39725029A>C | CA2733616154 | ERBB2 | c.2494-20A>C (n.2494-20A>C) c.2404-20A>C (n.2404-20A>C) c.1666-20A>C (n.1666-20A>C) c.2449-20A>C (n.2449-20A>C) c.*2284-20A>C (n.*2284-20A>C) c.600-20A>C n.3628-20A>C n.2818-20A>C c.2632-20A>C (n.2632-20A>C) c.2587-20A>C (n.2587-20A>C) c.2542-20A>C (n.2542-20A>C) c.2611-20A>C (n.2611-20A>C) c.2596-20A>C (n.2596-20A>C) c.2575-20A>C (n.2575-20A>C) c.2569-20A>C (n.2569-20A>C) c.2524-20A>C (n.2524-20A>C) c.2515-20A>C (n.2515-20A>C) c.2491-20A>C (n.2491-20A>C) c.2485-20A>C (n.2485-20A>C) c.2458-20A>C (n.2458-20A>C) c.2452-20A>C (n.2452-20A>C) c.2446-20A>C (n.2446-20A>C) c.2395-20A>C (n.2395-20A>C) c.2493+118A>C (n.2493+118A>C) c.2314-20A>C (n.2314-20A>C) c.2308-20A>C (n.2308-20A>C) c.2445+118A>C (n.2445+118A>C) c.2236-20A>C (n.2236-20A>C) c.2208+1369A>C (n.2208+1369A>C) c.1456-20A>C (n.1456-20A>C) n.2732-20A>C | dbSNP |
17 | g.39725029A>G | CA2637622014 | ERBB2 | c.2494-20A>G (n.2494-20A>G) c.2404-20A>G (n.2404-20A>G) c.1666-20A>G (n.1666-20A>G) c.2449-20A>G (n.2449-20A>G) c.*2284-20A>G (n.*2284-20A>G) c.600-20A>G n.3628-20A>G n.2818-20A>G c.2632-20A>G (n.2632-20A>G) c.2587-20A>G (n.2587-20A>G) c.2542-20A>G (n.2542-20A>G) c.2611-20A>G (n.2611-20A>G) c.2596-20A>G (n.2596-20A>G) c.2575-20A>G (n.2575-20A>G) c.2569-20A>G (n.2569-20A>G) c.2524-20A>G (n.2524-20A>G) c.2515-20A>G (n.2515-20A>G) c.2491-20A>G (n.2491-20A>G) c.2485-20A>G (n.2485-20A>G) c.2458-20A>G (n.2458-20A>G) c.2452-20A>G (n.2452-20A>G) c.2446-20A>G (n.2446-20A>G) c.2395-20A>G (n.2395-20A>G) c.2493+118A>G (n.2493+118A>G) c.2314-20A>G (n.2314-20A>G) c.2308-20A>G (n.2308-20A>G) c.2445+118A>G (n.2445+118A>G) c.2236-20A>G (n.2236-20A>G) c.2208+1369A>G (n.2208+1369A>G) c.1456-20A>G (n.1456-20A>G) n.2732-20A>G | gnomAD v4 |
17 | g.39725029A>T | CA2733616155 | ERBB2 | c.2494-20A>T (n.2494-20A>T) c.2404-20A>T (n.2404-20A>T) c.1666-20A>T (n.1666-20A>T) c.2449-20A>T (n.2449-20A>T) c.*2284-20A>T (n.*2284-20A>T) c.600-20A>T n.3628-20A>T n.2818-20A>T c.2632-20A>T (n.2632-20A>T) c.2587-20A>T (n.2587-20A>T) c.2542-20A>T (n.2542-20A>T) c.2611-20A>T (n.2611-20A>T) c.2596-20A>T (n.2596-20A>T) c.2575-20A>T (n.2575-20A>T) c.2569-20A>T (n.2569-20A>T) c.2524-20A>T (n.2524-20A>T) c.2515-20A>T (n.2515-20A>T) c.2491-20A>T (n.2491-20A>T) c.2485-20A>T (n.2485-20A>T) c.2458-20A>T (n.2458-20A>T) c.2452-20A>T (n.2452-20A>T) c.2446-20A>T (n.2446-20A>T) c.2395-20A>T (n.2395-20A>T) c.2493+118A>T (n.2493+118A>T) c.2314-20A>T (n.2314-20A>T) c.2308-20A>T (n.2308-20A>T) c.2445+118A>T (n.2445+118A>T) c.2236-20A>T (n.2236-20A>T) c.2208+1369A>T (n.2208+1369A>T) c.1456-20A>T (n.1456-20A>T) n.2732-20A>T | dbSNP |
17 | g.39725029_39725037del | CA2637622012 | ERBB2 | c.2494-20_2494-12del (n.2494-20_2494-12del) c.2404-20_2404-12del (n.2404-20_2404-12del) c.1666-20_1666-12del (n.1666-20_1666-12del) c.2449-20_2449-12del (n.2449-20_2449-12del) c.*2284-20_*2284-12del (n.*2284-20_*2284-12del) c.600-20_600-12del n.3628-20_3628-12del n.2818-20_2818-12del c.2632-20_2632-12del (n.2632-20_2632-12del) c.2587-20_2587-12del (n.2587-20_2587-12del) c.2542-20_2542-12del (n.2542-20_2542-12del) c.2611-20_2611-12del (n.2611-20_2611-12del) c.2596-20_2596-12del (n.2596-20_2596-12del) c.2575-20_2575-12del (n.2575-20_2575-12del) c.2569-20_2569-12del (n.2569-20_2569-12del) c.2524-20_2524-12del (n.2524-20_2524-12del) c.2515-20_2515-12del (n.2515-20_2515-12del) c.2491-20_2491-12del (n.2491-20_2491-12del) c.2485-20_2485-12del (n.2485-20_2485-12del) c.2458-20_2458-12del (n.2458-20_2458-12del) c.2452-20_2452-12del (n.2452-20_2452-12del) c.2446-20_2446-12del (n.2446-20_2446-12del) c.2395-20_2395-12del (n.2395-20_2395-12del) c.2493+118_2493+126del (n.2493+118_2493+126del) c.2314-20_2314-12del (n.2314-20_2314-12del) c.2308-20_2308-12del (n.2308-20_2308-12del) c.2445+118_2445+126del (n.2445+118_2445+126del) c.2236-20_2236-12del (n.2236-20_2236-12del) c.2208+1369_2208+1377del (n.2208+1369_2208+1377del) c.1456-20_1456-12del (n.1456-20_1456-12del) n.2732-20_2732-12del | gnomAD v4 |
17 | g.39725030T>A | CA2733359393 | ERBB2 | c.2494-19T>A (n.2494-19T>A) c.2404-19T>A (n.2404-19T>A) c.1666-19T>A (n.1666-19T>A) c.2449-19T>A (n.2449-19T>A) c.*2284-19T>A (n.*2284-19T>A) c.600-19T>A n.3628-19T>A n.2818-19T>A c.2632-19T>A (n.2632-19T>A) c.2587-19T>A (n.2587-19T>A) c.2542-19T>A (n.2542-19T>A) c.2611-19T>A (n.2611-19T>A) c.2596-19T>A (n.2596-19T>A) c.2575-19T>A (n.2575-19T>A) c.2569-19T>A (n.2569-19T>A) c.2524-19T>A (n.2524-19T>A) c.2515-19T>A (n.2515-19T>A) c.2491-19T>A (n.2491-19T>A) c.2485-19T>A (n.2485-19T>A) c.2458-19T>A (n.2458-19T>A) c.2452-19T>A (n.2452-19T>A) c.2446-19T>A (n.2446-19T>A) c.2395-19T>A (n.2395-19T>A) c.2493+119T>A (n.2493+119T>A) c.2314-19T>A (n.2314-19T>A) c.2308-19T>A (n.2308-19T>A) c.2445+119T>A (n.2445+119T>A) c.2236-19T>A (n.2236-19T>A) c.2208+1370T>A (n.2208+1370T>A) c.1456-19T>A (n.1456-19T>A) n.2732-19T>A | dbSNP |
17 | g.39725030T>C | CA983631353 | ERBB2 | c.2494-19T>C (n.2494-19T>C) c.2404-19T>C (n.2404-19T>C) c.1666-19T>C (n.1666-19T>C) c.2449-19T>C (n.2449-19T>C) c.*2284-19T>C (n.*2284-19T>C) c.600-19T>C n.3628-19T>C n.2818-19T>C c.2632-19T>C (n.2632-19T>C) c.2587-19T>C (n.2587-19T>C) c.2542-19T>C (n.2542-19T>C) c.2611-19T>C (n.2611-19T>C) c.2596-19T>C (n.2596-19T>C) c.2575-19T>C (n.2575-19T>C) c.2569-19T>C (n.2569-19T>C) c.2524-19T>C (n.2524-19T>C) c.2515-19T>C (n.2515-19T>C) c.2491-19T>C (n.2491-19T>C) c.2485-19T>C (n.2485-19T>C) c.2458-19T>C (n.2458-19T>C) c.2452-19T>C (n.2452-19T>C) c.2446-19T>C (n.2446-19T>C) c.2395-19T>C (n.2395-19T>C) c.2493+119T>C (n.2493+119T>C) c.2314-19T>C (n.2314-19T>C) c.2308-19T>C (n.2308-19T>C) c.2445+119T>C (n.2445+119T>C) c.2236-19T>C (n.2236-19T>C) c.2208+1370T>C (n.2208+1370T>C) c.1456-19T>C (n.1456-19T>C) n.2732-19T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39725030T= | CA2259228110 | ERBB2 | c.2494-19T= (n.2494-19T=) c.2404-19T= (n.2404-19T=) c.1666-19T= (n.1666-19T=) c.2449-19T= (n.2449-19T=) c.*2284-19T= (n.*2284-19T=) c.600-19T= n.3628-19T= n.2818-19T= c.2632-19T= (n.2632-19T=) c.2587-19T= (n.2587-19T=) c.2542-19T= (n.2542-19T=) c.2611-19T= (n.2611-19T=) c.2596-19T= (n.2596-19T=) c.2575-19T= (n.2575-19T=) c.2569-19T= (n.2569-19T=) c.2524-19T= (n.2524-19T=) c.2515-19T= (n.2515-19T=) c.2491-19T= (n.2491-19T=) c.2485-19T= (n.2485-19T=) c.2458-19T= (n.2458-19T=) c.2452-19T= (n.2452-19T=) c.2446-19T= (n.2446-19T=) c.2395-19T= (n.2395-19T=) c.2493+119T= (n.2493+119T=) c.2314-19T= (n.2314-19T=) c.2308-19T= (n.2308-19T=) c.2445+119T= (n.2445+119T=) c.2236-19T= (n.2236-19T=) c.2208+1370T= (n.2208+1370T=) c.1456-19T= (n.1456-19T=) n.2732-19T= | |
17 | g.39725031G>A | CA290440846 | ERBB2 | c.2494-18G>A (n.2494-18G>A) c.2404-18G>A (n.2404-18G>A) c.1666-18G>A (n.1666-18G>A) c.2449-18G>A (n.2449-18G>A) c.*2284-18G>A (n.*2284-18G>A) c.600-18G>A n.3628-18G>A n.2818-18G>A c.2632-18G>A (n.2632-18G>A) c.2587-18G>A (n.2587-18G>A) c.2542-18G>A (n.2542-18G>A) c.2611-18G>A (n.2611-18G>A) c.2596-18G>A (n.2596-18G>A) c.2575-18G>A (n.2575-18G>A) c.2569-18G>A (n.2569-18G>A) c.2524-18G>A (n.2524-18G>A) c.2515-18G>A (n.2515-18G>A) c.2491-18G>A (n.2491-18G>A) c.2485-18G>A (n.2485-18G>A) c.2458-18G>A (n.2458-18G>A) c.2452-18G>A (n.2452-18G>A) c.2446-18G>A (n.2446-18G>A) c.2395-18G>A (n.2395-18G>A) c.2493+120G>A (n.2493+120G>A) c.2314-18G>A (n.2314-18G>A) c.2308-18G>A (n.2308-18G>A) c.2445+120G>A (n.2445+120G>A) c.2236-18G>A (n.2236-18G>A) c.2208+1371G>A (n.2208+1371G>A) c.1456-18G>A (n.1456-18G>A) n.2732-18G>A | dbSNP gnomAD v4 |
17 | g.39725031G= | CA2259228111 | ERBB2 | c.2494-18G= (n.2494-18G=) c.2404-18G= (n.2404-18G=) c.1666-18G= (n.1666-18G=) c.2449-18G= (n.2449-18G=) c.*2284-18G= (n.*2284-18G=) c.600-18G= n.3628-18G= n.2818-18G= c.2632-18G= (n.2632-18G=) c.2587-18G= (n.2587-18G=) c.2542-18G= (n.2542-18G=) c.2611-18G= (n.2611-18G=) c.2596-18G= (n.2596-18G=) c.2575-18G= (n.2575-18G=) c.2569-18G= (n.2569-18G=) c.2524-18G= (n.2524-18G=) c.2515-18G= (n.2515-18G=) c.2491-18G= (n.2491-18G=) c.2485-18G= (n.2485-18G=) c.2458-18G= (n.2458-18G=) c.2452-18G= (n.2452-18G=) c.2446-18G= (n.2446-18G=) c.2395-18G= (n.2395-18G=) c.2493+120G= (n.2493+120G=) c.2314-18G= (n.2314-18G=) c.2308-18G= (n.2308-18G=) c.2445+120G= (n.2445+120G=) c.2236-18G= (n.2236-18G=) c.2208+1371G= (n.2208+1371G=) c.1456-18G= (n.1456-18G=) n.2732-18G= | |
17 | g.39725031G>T | CA2576254716 | ERBB2 | c.2494-18G>T (n.2494-18G>T) c.2404-18G>T (n.2404-18G>T) c.1666-18G>T (n.1666-18G>T) c.2449-18G>T (n.2449-18G>T) c.*2284-18G>T (n.*2284-18G>T) c.600-18G>T n.3628-18G>T n.2818-18G>T c.2632-18G>T (n.2632-18G>T) c.2587-18G>T (n.2587-18G>T) c.2542-18G>T (n.2542-18G>T) c.2611-18G>T (n.2611-18G>T) c.2596-18G>T (n.2596-18G>T) c.2575-18G>T (n.2575-18G>T) c.2569-18G>T (n.2569-18G>T) c.2524-18G>T (n.2524-18G>T) c.2515-18G>T (n.2515-18G>T) c.2491-18G>T (n.2491-18G>T) c.2485-18G>T (n.2485-18G>T) c.2458-18G>T (n.2458-18G>T) c.2452-18G>T (n.2452-18G>T) c.2446-18G>T (n.2446-18G>T) c.2395-18G>T (n.2395-18G>T) c.2493+120G>T (n.2493+120G>T) c.2314-18G>T (n.2314-18G>T) c.2308-18G>T (n.2308-18G>T) c.2445+120G>T (n.2445+120G>T) c.2236-18G>T (n.2236-18G>T) c.2208+1371G>T (n.2208+1371G>T) c.1456-18G>T (n.1456-18G>T) n.2732-18G>T | |
17 | g.39725032G>A | CA626209382 | ERBB2 | c.2494-17G>A (n.2494-17G>A) c.2404-17G>A (n.2404-17G>A) c.1666-17G>A (n.1666-17G>A) c.2449-17G>A (n.2449-17G>A) c.*2284-17G>A (n.*2284-17G>A) c.600-17G>A n.3628-17G>A n.2818-17G>A c.2632-17G>A (n.2632-17G>A) c.2587-17G>A (n.2587-17G>A) c.2542-17G>A (n.2542-17G>A) c.2611-17G>A (n.2611-17G>A) c.2596-17G>A (n.2596-17G>A) c.2575-17G>A (n.2575-17G>A) c.2569-17G>A (n.2569-17G>A) c.2524-17G>A (n.2524-17G>A) c.2515-17G>A (n.2515-17G>A) c.2491-17G>A (n.2491-17G>A) c.2485-17G>A (n.2485-17G>A) c.2458-17G>A (n.2458-17G>A) c.2452-17G>A (n.2452-17G>A) c.2446-17G>A (n.2446-17G>A) c.2395-17G>A (n.2395-17G>A) c.2493+121G>A (n.2493+121G>A) c.2314-17G>A (n.2314-17G>A) c.2308-17G>A (n.2308-17G>A) c.2445+121G>A (n.2445+121G>A) c.2236-17G>A (n.2236-17G>A) c.2208+1372G>A (n.2208+1372G>A) c.1456-17G>A (n.1456-17G>A) n.2732-17G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39725032G>C | CA2733234625 | ERBB2 | c.2494-17G>C (n.2494-17G>C) c.2404-17G>C (n.2404-17G>C) c.1666-17G>C (n.1666-17G>C) c.2449-17G>C (n.2449-17G>C) c.*2284-17G>C (n.*2284-17G>C) c.600-17G>C n.3628-17G>C n.2818-17G>C c.2632-17G>C (n.2632-17G>C) c.2587-17G>C (n.2587-17G>C) c.2542-17G>C (n.2542-17G>C) c.2611-17G>C (n.2611-17G>C) c.2596-17G>C (n.2596-17G>C) c.2575-17G>C (n.2575-17G>C) c.2569-17G>C (n.2569-17G>C) c.2524-17G>C (n.2524-17G>C) c.2515-17G>C (n.2515-17G>C) c.2491-17G>C (n.2491-17G>C) c.2485-17G>C (n.2485-17G>C) c.2458-17G>C (n.2458-17G>C) c.2452-17G>C (n.2452-17G>C) c.2446-17G>C (n.2446-17G>C) c.2395-17G>C (n.2395-17G>C) c.2493+121G>C (n.2493+121G>C) c.2314-17G>C (n.2314-17G>C) c.2308-17G>C (n.2308-17G>C) c.2445+121G>C (n.2445+121G>C) c.2236-17G>C (n.2236-17G>C) c.2208+1372G>C (n.2208+1372G>C) c.1456-17G>C (n.1456-17G>C) n.2732-17G>C | dbSNP |
17 | g.39725032G= | CA2259228112 | ERBB2 | c.2494-17G= (n.2494-17G=) c.2404-17G= (n.2404-17G=) c.1666-17G= (n.1666-17G=) c.2449-17G= (n.2449-17G=) c.*2284-17G= (n.*2284-17G=) c.600-17G= n.3628-17G= n.2818-17G= c.2632-17G= (n.2632-17G=) c.2587-17G= (n.2587-17G=) c.2542-17G= (n.2542-17G=) c.2611-17G= (n.2611-17G=) c.2596-17G= (n.2596-17G=) c.2575-17G= (n.2575-17G=) c.2569-17G= (n.2569-17G=) c.2524-17G= (n.2524-17G=) c.2515-17G= (n.2515-17G=) c.2491-17G= (n.2491-17G=) c.2485-17G= (n.2485-17G=) c.2458-17G= (n.2458-17G=) c.2452-17G= (n.2452-17G=) c.2446-17G= (n.2446-17G=) c.2395-17G= (n.2395-17G=) c.2493+121G= (n.2493+121G=) c.2314-17G= (n.2314-17G=) c.2308-17G= (n.2308-17G=) c.2445+121G= (n.2445+121G=) c.2236-17G= (n.2236-17G=) c.2208+1372G= (n.2208+1372G=) c.1456-17G= (n.1456-17G=) n.2732-17G= | |
17 | g.39725032G>T | CA2733234621 | ERBB2 | c.2494-17G>T (n.2494-17G>T) c.2404-17G>T (n.2404-17G>T) c.1666-17G>T (n.1666-17G>T) c.2449-17G>T (n.2449-17G>T) c.*2284-17G>T (n.*2284-17G>T) c.600-17G>T n.3628-17G>T n.2818-17G>T c.2632-17G>T (n.2632-17G>T) c.2587-17G>T (n.2587-17G>T) c.2542-17G>T (n.2542-17G>T) c.2611-17G>T (n.2611-17G>T) c.2596-17G>T (n.2596-17G>T) c.2575-17G>T (n.2575-17G>T) c.2569-17G>T (n.2569-17G>T) c.2524-17G>T (n.2524-17G>T) c.2515-17G>T (n.2515-17G>T) c.2491-17G>T (n.2491-17G>T) c.2485-17G>T (n.2485-17G>T) c.2458-17G>T (n.2458-17G>T) c.2452-17G>T (n.2452-17G>T) c.2446-17G>T (n.2446-17G>T) c.2395-17G>T (n.2395-17G>T) c.2493+121G>T (n.2493+121G>T) c.2314-17G>T (n.2314-17G>T) c.2308-17G>T (n.2308-17G>T) c.2445+121G>T (n.2445+121G>T) c.2236-17G>T (n.2236-17G>T) c.2208+1372G>T (n.2208+1372G>T) c.1456-17G>T (n.1456-17G>T) n.2732-17G>T | dbSNP |
17 | g.39725033G>A | CA2733616156 | ERBB2 | c.2494-16G>A (n.2494-16G>A) c.2404-16G>A (n.2404-16G>A) c.1666-16G>A (n.1666-16G>A) c.2449-16G>A (n.2449-16G>A) c.*2284-16G>A (n.*2284-16G>A) c.600-16G>A n.3628-16G>A n.2818-16G>A c.2632-16G>A (n.2632-16G>A) c.2587-16G>A (n.2587-16G>A) c.2542-16G>A (n.2542-16G>A) c.2611-16G>A (n.2611-16G>A) c.2596-16G>A (n.2596-16G>A) c.2575-16G>A (n.2575-16G>A) c.2569-16G>A (n.2569-16G>A) c.2524-16G>A (n.2524-16G>A) c.2515-16G>A (n.2515-16G>A) c.2491-16G>A (n.2491-16G>A) c.2485-16G>A (n.2485-16G>A) c.2458-16G>A (n.2458-16G>A) c.2452-16G>A (n.2452-16G>A) c.2446-16G>A (n.2446-16G>A) c.2395-16G>A (n.2395-16G>A) c.2493+122G>A (n.2493+122G>A) c.2314-16G>A (n.2314-16G>A) c.2308-16G>A (n.2308-16G>A) c.2445+122G>A (n.2445+122G>A) c.2236-16G>A (n.2236-16G>A) c.2208+1373G>A (n.2208+1373G>A) c.1456-16G>A (n.1456-16G>A) n.2732-16G>A | dbSNP |
17 | g.39725033G>C | CA2733616157 | ERBB2 | c.2494-16G>C (n.2494-16G>C) c.2404-16G>C (n.2404-16G>C) c.1666-16G>C (n.1666-16G>C) c.2449-16G>C (n.2449-16G>C) c.*2284-16G>C (n.*2284-16G>C) c.600-16G>C n.3628-16G>C n.2818-16G>C c.2632-16G>C (n.2632-16G>C) c.2587-16G>C (n.2587-16G>C) c.2542-16G>C (n.2542-16G>C) c.2611-16G>C (n.2611-16G>C) c.2596-16G>C (n.2596-16G>C) c.2575-16G>C (n.2575-16G>C) c.2569-16G>C (n.2569-16G>C) c.2524-16G>C (n.2524-16G>C) c.2515-16G>C (n.2515-16G>C) c.2491-16G>C (n.2491-16G>C) c.2485-16G>C (n.2485-16G>C) c.2458-16G>C (n.2458-16G>C) c.2452-16G>C (n.2452-16G>C) c.2446-16G>C (n.2446-16G>C) c.2395-16G>C (n.2395-16G>C) c.2493+122G>C (n.2493+122G>C) c.2314-16G>C (n.2314-16G>C) c.2308-16G>C (n.2308-16G>C) c.2445+122G>C (n.2445+122G>C) c.2236-16G>C (n.2236-16G>C) c.2208+1373G>C (n.2208+1373G>C) c.1456-16G>C (n.1456-16G>C) n.2732-16G>C | dbSNP |
17 | g.39725033G>T | CA2733616158 | ERBB2 | c.2494-16G>T (n.2494-16G>T) c.2404-16G>T (n.2404-16G>T) c.1666-16G>T (n.1666-16G>T) c.2449-16G>T (n.2449-16G>T) c.*2284-16G>T (n.*2284-16G>T) c.600-16G>T n.3628-16G>T n.2818-16G>T c.2632-16G>T (n.2632-16G>T) c.2587-16G>T (n.2587-16G>T) c.2542-16G>T (n.2542-16G>T) c.2611-16G>T (n.2611-16G>T) c.2596-16G>T (n.2596-16G>T) c.2575-16G>T (n.2575-16G>T) c.2569-16G>T (n.2569-16G>T) c.2524-16G>T (n.2524-16G>T) c.2515-16G>T (n.2515-16G>T) c.2491-16G>T (n.2491-16G>T) c.2485-16G>T (n.2485-16G>T) c.2458-16G>T (n.2458-16G>T) c.2452-16G>T (n.2452-16G>T) c.2446-16G>T (n.2446-16G>T) c.2395-16G>T (n.2395-16G>T) c.2493+122G>T (n.2493+122G>T) c.2314-16G>T (n.2314-16G>T) c.2308-16G>T (n.2308-16G>T) c.2445+122G>T (n.2445+122G>T) c.2236-16G>T (n.2236-16G>T) c.2208+1373G>T (n.2208+1373G>T) c.1456-16G>T (n.1456-16G>T) n.2732-16G>T | dbSNP |
17 | g.39725034T>A | CA2733359394 | ERBB2 | c.2494-15T>A (n.2494-15T>A) c.2404-15T>A (n.2404-15T>A) c.1666-15T>A (n.1666-15T>A) c.2449-15T>A (n.2449-15T>A) c.*2284-15T>A (n.*2284-15T>A) c.600-15T>A n.3628-15T>A n.2818-15T>A c.2632-15T>A (n.2632-15T>A) c.2587-15T>A (n.2587-15T>A) c.2542-15T>A (n.2542-15T>A) c.2611-15T>A (n.2611-15T>A) c.2596-15T>A (n.2596-15T>A) c.2575-15T>A (n.2575-15T>A) c.2569-15T>A (n.2569-15T>A) c.2524-15T>A (n.2524-15T>A) c.2515-15T>A (n.2515-15T>A) c.2491-15T>A (n.2491-15T>A) c.2485-15T>A (n.2485-15T>A) c.2458-15T>A (n.2458-15T>A) c.2452-15T>A (n.2452-15T>A) c.2446-15T>A (n.2446-15T>A) c.2395-15T>A (n.2395-15T>A) c.2493+123T>A (n.2493+123T>A) c.2314-15T>A (n.2314-15T>A) c.2308-15T>A (n.2308-15T>A) c.2445+123T>A (n.2445+123T>A) c.2236-15T>A (n.2236-15T>A) c.2208+1374T>A (n.2208+1374T>A) c.1456-15T>A (n.1456-15T>A) n.2732-15T>A | dbSNP |
17 | g.39725034T>C | CA499890053 | ERBB2 | c.2494-15T>C (n.2494-15T>C) c.2404-15T>C (n.2404-15T>C) c.1666-15T>C (n.1666-15T>C) c.2449-15T>C (n.2449-15T>C) c.*2284-15T>C (n.*2284-15T>C) c.600-15T>C n.3628-15T>C n.2818-15T>C c.2632-15T>C (n.2632-15T>C) c.2587-15T>C (n.2587-15T>C) c.2542-15T>C (n.2542-15T>C) c.2611-15T>C (n.2611-15T>C) c.2596-15T>C (n.2596-15T>C) c.2575-15T>C (n.2575-15T>C) c.2569-15T>C (n.2569-15T>C) c.2524-15T>C (n.2524-15T>C) c.2515-15T>C (n.2515-15T>C) c.2491-15T>C (n.2491-15T>C) c.2485-15T>C (n.2485-15T>C) c.2458-15T>C (n.2458-15T>C) c.2452-15T>C (n.2452-15T>C) c.2446-15T>C (n.2446-15T>C) c.2395-15T>C (n.2395-15T>C) c.2493+123T>C (n.2493+123T>C) c.2314-15T>C (n.2314-15T>C) c.2308-15T>C (n.2308-15T>C) c.2445+123T>C (n.2445+123T>C) c.2236-15T>C (n.2236-15T>C) c.2208+1374T>C (n.2208+1374T>C) c.1456-15T>C (n.1456-15T>C) n.2732-15T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39725034T>G | CA2733359395 | ERBB2 | c.2494-15T>G (n.2494-15T>G) c.2404-15T>G (n.2404-15T>G) c.1666-15T>G (n.1666-15T>G) c.2449-15T>G (n.2449-15T>G) c.*2284-15T>G (n.*2284-15T>G) c.600-15T>G n.3628-15T>G n.2818-15T>G c.2632-15T>G (n.2632-15T>G) c.2587-15T>G (n.2587-15T>G) c.2542-15T>G (n.2542-15T>G) c.2611-15T>G (n.2611-15T>G) c.2596-15T>G (n.2596-15T>G) c.2575-15T>G (n.2575-15T>G) c.2569-15T>G (n.2569-15T>G) c.2524-15T>G (n.2524-15T>G) c.2515-15T>G (n.2515-15T>G) c.2491-15T>G (n.2491-15T>G) c.2485-15T>G (n.2485-15T>G) c.2458-15T>G (n.2458-15T>G) c.2452-15T>G (n.2452-15T>G) c.2446-15T>G (n.2446-15T>G) c.2395-15T>G (n.2395-15T>G) c.2493+123T>G (n.2493+123T>G) c.2314-15T>G (n.2314-15T>G) c.2308-15T>G (n.2308-15T>G) c.2445+123T>G (n.2445+123T>G) c.2236-15T>G (n.2236-15T>G) c.2208+1374T>G (n.2208+1374T>G) c.1456-15T>G (n.1456-15T>G) n.2732-15T>G | dbSNP |
17 | g.39725034T= | CA2259228113 | ERBB2 | c.2494-15T= (n.2494-15T=) c.2404-15T= (n.2404-15T=) c.1666-15T= (n.1666-15T=) c.2449-15T= (n.2449-15T=) c.*2284-15T= (n.*2284-15T=) c.600-15T= n.3628-15T= n.2818-15T= c.2632-15T= (n.2632-15T=) c.2587-15T= (n.2587-15T=) c.2542-15T= (n.2542-15T=) c.2611-15T= (n.2611-15T=) c.2596-15T= (n.2596-15T=) c.2575-15T= (n.2575-15T=) c.2569-15T= (n.2569-15T=) c.2524-15T= (n.2524-15T=) c.2515-15T= (n.2515-15T=) c.2491-15T= (n.2491-15T=) c.2485-15T= (n.2485-15T=) c.2458-15T= (n.2458-15T=) c.2452-15T= (n.2452-15T=) c.2446-15T= (n.2446-15T=) c.2395-15T= (n.2395-15T=) c.2493+123T= (n.2493+123T=) c.2314-15T= (n.2314-15T=) c.2308-15T= (n.2308-15T=) c.2445+123T= (n.2445+123T=) c.2236-15T= (n.2236-15T=) c.2208+1374T= (n.2208+1374T=) c.1456-15T= (n.1456-15T=) n.2732-15T= | |
17 | g.39725035G>A | CA2733616159 | ERBB2 | c.2494-14G>A (n.2494-14G>A) c.2404-14G>A (n.2404-14G>A) c.1666-14G>A (n.1666-14G>A) c.2449-14G>A (n.2449-14G>A) c.*2284-14G>A (n.*2284-14G>A) c.600-14G>A n.3628-14G>A n.2818-14G>A c.2632-14G>A (n.2632-14G>A) c.2587-14G>A (n.2587-14G>A) c.2542-14G>A (n.2542-14G>A) c.2611-14G>A (n.2611-14G>A) c.2596-14G>A (n.2596-14G>A) c.2575-14G>A (n.2575-14G>A) c.2569-14G>A (n.2569-14G>A) c.2524-14G>A (n.2524-14G>A) c.2515-14G>A (n.2515-14G>A) c.2491-14G>A (n.2491-14G>A) c.2485-14G>A (n.2485-14G>A) c.2458-14G>A (n.2458-14G>A) c.2452-14G>A (n.2452-14G>A) c.2446-14G>A (n.2446-14G>A) c.2395-14G>A (n.2395-14G>A) c.2493+124G>A (n.2493+124G>A) c.2314-14G>A (n.2314-14G>A) c.2308-14G>A (n.2308-14G>A) c.2445+124G>A (n.2445+124G>A) c.2236-14G>A (n.2236-14G>A) c.2208+1375G>A (n.2208+1375G>A) c.1456-14G>A (n.1456-14G>A) n.2732-14G>A | dbSNP |
17 | g.39725035G>C | CA2733616161 | ERBB2 | c.2494-14G>C (n.2494-14G>C) c.2404-14G>C (n.2404-14G>C) c.1666-14G>C (n.1666-14G>C) c.2449-14G>C (n.2449-14G>C) c.*2284-14G>C (n.*2284-14G>C) c.600-14G>C n.3628-14G>C n.2818-14G>C c.2632-14G>C (n.2632-14G>C) c.2587-14G>C (n.2587-14G>C) c.2542-14G>C (n.2542-14G>C) c.2611-14G>C (n.2611-14G>C) c.2596-14G>C (n.2596-14G>C) c.2575-14G>C (n.2575-14G>C) c.2569-14G>C (n.2569-14G>C) c.2524-14G>C (n.2524-14G>C) c.2515-14G>C (n.2515-14G>C) c.2491-14G>C (n.2491-14G>C) c.2485-14G>C (n.2485-14G>C) c.2458-14G>C (n.2458-14G>C) c.2452-14G>C (n.2452-14G>C) c.2446-14G>C (n.2446-14G>C) c.2395-14G>C (n.2395-14G>C) c.2493+124G>C (n.2493+124G>C) c.2314-14G>C (n.2314-14G>C) c.2308-14G>C (n.2308-14G>C) c.2445+124G>C (n.2445+124G>C) c.2236-14G>C (n.2236-14G>C) c.2208+1375G>C (n.2208+1375G>C) c.1456-14G>C (n.1456-14G>C) n.2732-14G>C | dbSNP |
17 | g.39725036C>A | CA2733616164 | ERBB2 | c.2494-13C>A (n.2494-13C>A) c.2404-13C>A (n.2404-13C>A) c.1666-13C>A (n.1666-13C>A) c.2449-13C>A (n.2449-13C>A) c.*2284-13C>A (n.*2284-13C>A) c.600-13C>A n.3628-13C>A n.2818-13C>A c.2632-13C>A (n.2632-13C>A) c.2587-13C>A (n.2587-13C>A) c.2542-13C>A (n.2542-13C>A) c.2611-13C>A (n.2611-13C>A) c.2596-13C>A (n.2596-13C>A) c.2575-13C>A (n.2575-13C>A) c.2569-13C>A (n.2569-13C>A) c.2524-13C>A (n.2524-13C>A) c.2515-13C>A (n.2515-13C>A) c.2491-13C>A (n.2491-13C>A) c.2485-13C>A (n.2485-13C>A) c.2458-13C>A (n.2458-13C>A) c.2452-13C>A (n.2452-13C>A) c.2446-13C>A (n.2446-13C>A) c.2395-13C>A (n.2395-13C>A) c.2493+125C>A (n.2493+125C>A) c.2314-13C>A (n.2314-13C>A) c.2308-13C>A (n.2308-13C>A) c.2445+125C>A (n.2445+125C>A) c.2236-13C>A (n.2236-13C>A) c.2208+1376C>A (n.2208+1376C>A) c.1456-13C>A (n.1456-13C>A) n.2732-13C>A | dbSNP |
17 | g.39725036C>G | CA2733616168 | ERBB2 | c.2494-13C>G (n.2494-13C>G) c.2404-13C>G (n.2404-13C>G) c.1666-13C>G (n.1666-13C>G) c.2449-13C>G (n.2449-13C>G) c.*2284-13C>G (n.*2284-13C>G) c.600-13C>G n.3628-13C>G n.2818-13C>G c.2632-13C>G (n.2632-13C>G) c.2587-13C>G (n.2587-13C>G) c.2542-13C>G (n.2542-13C>G) c.2611-13C>G (n.2611-13C>G) c.2596-13C>G (n.2596-13C>G) c.2575-13C>G (n.2575-13C>G) c.2569-13C>G (n.2569-13C>G) c.2524-13C>G (n.2524-13C>G) c.2515-13C>G (n.2515-13C>G) c.2491-13C>G (n.2491-13C>G) c.2485-13C>G (n.2485-13C>G) c.2458-13C>G (n.2458-13C>G) c.2452-13C>G (n.2452-13C>G) c.2446-13C>G (n.2446-13C>G) c.2395-13C>G (n.2395-13C>G) c.2493+125C>G (n.2493+125C>G) c.2314-13C>G (n.2314-13C>G) c.2308-13C>G (n.2308-13C>G) c.2445+125C>G (n.2445+125C>G) c.2236-13C>G (n.2236-13C>G) c.2208+1376C>G (n.2208+1376C>G) c.1456-13C>G (n.1456-13C>G) n.2732-13C>G | dbSNP |
17 | g.39725036C>T | CA2637622027 | ERBB2 | c.2494-13C>T (n.2494-13C>T) c.2404-13C>T (n.2404-13C>T) c.1666-13C>T (n.1666-13C>T) c.2449-13C>T (n.2449-13C>T) c.*2284-13C>T (n.*2284-13C>T) c.600-13C>T n.3628-13C>T n.2818-13C>T c.2632-13C>T (n.2632-13C>T) c.2587-13C>T (n.2587-13C>T) c.2542-13C>T (n.2542-13C>T) c.2611-13C>T (n.2611-13C>T) c.2596-13C>T (n.2596-13C>T) c.2575-13C>T (n.2575-13C>T) c.2569-13C>T (n.2569-13C>T) c.2524-13C>T (n.2524-13C>T) c.2515-13C>T (n.2515-13C>T) c.2491-13C>T (n.2491-13C>T) c.2485-13C>T (n.2485-13C>T) c.2458-13C>T (n.2458-13C>T) c.2452-13C>T (n.2452-13C>T) c.2446-13C>T (n.2446-13C>T) c.2395-13C>T (n.2395-13C>T) c.2493+125C>T (n.2493+125C>T) c.2314-13C>T (n.2314-13C>T) c.2308-13C>T (n.2308-13C>T) c.2445+125C>T (n.2445+125C>T) c.2236-13C>T (n.2236-13C>T) c.2208+1376C>T (n.2208+1376C>T) c.1456-13C>T (n.1456-13C>T) n.2732-13C>T | dbSNP gnomAD v4 |
17 | g.39725037T>A | CA2733616177 | ERBB2 | c.2494-12T>A (n.2494-12T>A) c.2404-12T>A (n.2404-12T>A) c.1666-12T>A (n.1666-12T>A) c.2449-12T>A (n.2449-12T>A) c.*2284-12T>A (n.*2284-12T>A) c.600-12T>A n.3628-12T>A n.2818-12T>A c.2632-12T>A (n.2632-12T>A) c.2587-12T>A (n.2587-12T>A) c.2542-12T>A (n.2542-12T>A) c.2611-12T>A (n.2611-12T>A) c.2596-12T>A (n.2596-12T>A) c.2575-12T>A (n.2575-12T>A) c.2569-12T>A (n.2569-12T>A) c.2524-12T>A (n.2524-12T>A) c.2515-12T>A (n.2515-12T>A) c.2491-12T>A (n.2491-12T>A) c.2485-12T>A (n.2485-12T>A) c.2458-12T>A (n.2458-12T>A) c.2452-12T>A (n.2452-12T>A) c.2446-12T>A (n.2446-12T>A) c.2395-12T>A (n.2395-12T>A) c.2493+126T>A (n.2493+126T>A) c.2314-12T>A (n.2314-12T>A) c.2308-12T>A (n.2308-12T>A) c.2445+126T>A (n.2445+126T>A) c.2236-12T>A (n.2236-12T>A) c.2208+1377T>A (n.2208+1377T>A) c.1456-12T>A (n.1456-12T>A) n.2732-12T>A | dbSNP |
17 | g.39725037T>C | CA2637622028 | ERBB2 | c.2494-12T>C (n.2494-12T>C) c.2404-12T>C (n.2404-12T>C) c.1666-12T>C (n.1666-12T>C) c.2449-12T>C (n.2449-12T>C) c.*2284-12T>C (n.*2284-12T>C) c.600-12T>C n.3628-12T>C n.2818-12T>C c.2632-12T>C (n.2632-12T>C) c.2587-12T>C (n.2587-12T>C) c.2542-12T>C (n.2542-12T>C) c.2611-12T>C (n.2611-12T>C) c.2596-12T>C (n.2596-12T>C) c.2575-12T>C (n.2575-12T>C) c.2569-12T>C (n.2569-12T>C) c.2524-12T>C (n.2524-12T>C) c.2515-12T>C (n.2515-12T>C) c.2491-12T>C (n.2491-12T>C) c.2485-12T>C (n.2485-12T>C) c.2458-12T>C (n.2458-12T>C) c.2452-12T>C (n.2452-12T>C) c.2446-12T>C (n.2446-12T>C) c.2395-12T>C (n.2395-12T>C) c.2493+126T>C (n.2493+126T>C) c.2314-12T>C (n.2314-12T>C) c.2308-12T>C (n.2308-12T>C) c.2445+126T>C (n.2445+126T>C) c.2236-12T>C (n.2236-12T>C) c.2208+1377T>C (n.2208+1377T>C) c.1456-12T>C (n.1456-12T>C) n.2732-12T>C | dbSNP gnomAD v4 |
17 | g.39725038T>C | CA290440856 | ERBB2 | c.2494-11T>C (n.2494-11T>C) c.2404-11T>C (n.2404-11T>C) c.1666-11T>C (n.1666-11T>C) c.2449-11T>C (n.2449-11T>C) c.*2284-11T>C (n.*2284-11T>C) c.600-11T>C n.3628-11T>C n.2818-11T>C c.2632-11T>C (n.2632-11T>C) c.2587-11T>C (n.2587-11T>C) c.2542-11T>C (n.2542-11T>C) c.2611-11T>C (n.2611-11T>C) c.2596-11T>C (n.2596-11T>C) c.2575-11T>C (n.2575-11T>C) c.2569-11T>C (n.2569-11T>C) c.2524-11T>C (n.2524-11T>C) c.2515-11T>C (n.2515-11T>C) c.2491-11T>C (n.2491-11T>C) c.2485-11T>C (n.2485-11T>C) c.2458-11T>C (n.2458-11T>C) c.2452-11T>C (n.2452-11T>C) c.2446-11T>C (n.2446-11T>C) c.2395-11T>C (n.2395-11T>C) c.2493+127T>C (n.2493+127T>C) c.2314-11T>C (n.2314-11T>C) c.2308-11T>C (n.2308-11T>C) c.2445+127T>C (n.2445+127T>C) c.2236-11T>C (n.2236-11T>C) c.2208+1378T>C (n.2208+1378T>C) c.1456-11T>C (n.1456-11T>C) n.2732-11T>C | dbSNP gnomAD v4 |
17 | g.39725038T= | CA2259228114 | ERBB2 | c.2494-11T= (n.2494-11T=) c.2404-11T= (n.2404-11T=) c.1666-11T= (n.1666-11T=) c.2449-11T= (n.2449-11T=) c.*2284-11T= (n.*2284-11T=) c.600-11T= n.3628-11T= n.2818-11T= c.2632-11T= (n.2632-11T=) c.2587-11T= (n.2587-11T=) c.2542-11T= (n.2542-11T=) c.2611-11T= (n.2611-11T=) c.2596-11T= (n.2596-11T=) c.2575-11T= (n.2575-11T=) c.2569-11T= (n.2569-11T=) c.2524-11T= (n.2524-11T=) c.2515-11T= (n.2515-11T=) c.2491-11T= (n.2491-11T=) c.2485-11T= (n.2485-11T=) c.2458-11T= (n.2458-11T=) c.2452-11T= (n.2452-11T=) c.2446-11T= (n.2446-11T=) c.2395-11T= (n.2395-11T=) c.2493+127T= (n.2493+127T=) c.2314-11T= (n.2314-11T=) c.2308-11T= (n.2308-11T=) c.2445+127T= (n.2445+127T=) c.2236-11T= (n.2236-11T=) c.2208+1378T= (n.2208+1378T=) c.1456-11T= (n.1456-11T=) n.2732-11T= | |
17 | g.39725039C>A | CA2576254717 | ERBB2 | c.2494-10C>A (n.2494-10C>A) c.2404-10C>A (n.2404-10C>A) c.1666-10C>A (n.1666-10C>A) c.2449-10C>A (n.2449-10C>A) c.*2284-10C>A (n.*2284-10C>A) c.600-10C>A n.3628-10C>A n.2818-10C>A c.2632-10C>A (n.2632-10C>A) c.2587-10C>A (n.2587-10C>A) c.2542-10C>A (n.2542-10C>A) c.2611-10C>A (n.2611-10C>A) c.2596-10C>A (n.2596-10C>A) c.2575-10C>A (n.2575-10C>A) c.2569-10C>A (n.2569-10C>A) c.2524-10C>A (n.2524-10C>A) c.2515-10C>A (n.2515-10C>A) c.2491-10C>A (n.2491-10C>A) c.2485-10C>A (n.2485-10C>A) c.2458-10C>A (n.2458-10C>A) c.2452-10C>A (n.2452-10C>A) c.2446-10C>A (n.2446-10C>A) c.2395-10C>A (n.2395-10C>A) c.2493+128C>A (n.2493+128C>A) c.2314-10C>A (n.2314-10C>A) c.2308-10C>A (n.2308-10C>A) c.2445+128C>A (n.2445+128C>A) c.2236-10C>A (n.2236-10C>A) c.2208+1379C>A (n.2208+1379C>A) c.1456-10C>A (n.1456-10C>A) n.2732-10C>A | dbSNP gnomAD v4 |
17 | g.39725039C>G | CA2576254718 | ERBB2 | c.2494-10C>G (n.2494-10C>G) c.2404-10C>G (n.2404-10C>G) c.1666-10C>G (n.1666-10C>G) c.2449-10C>G (n.2449-10C>G) c.*2284-10C>G (n.*2284-10C>G) c.600-10C>G n.3628-10C>G n.2818-10C>G c.2632-10C>G (n.2632-10C>G) c.2587-10C>G (n.2587-10C>G) c.2542-10C>G (n.2542-10C>G) c.2611-10C>G (n.2611-10C>G) c.2596-10C>G (n.2596-10C>G) c.2575-10C>G (n.2575-10C>G) c.2569-10C>G (n.2569-10C>G) c.2524-10C>G (n.2524-10C>G) c.2515-10C>G (n.2515-10C>G) c.2491-10C>G (n.2491-10C>G) c.2485-10C>G (n.2485-10C>G) c.2458-10C>G (n.2458-10C>G) c.2452-10C>G (n.2452-10C>G) c.2446-10C>G (n.2446-10C>G) c.2395-10C>G (n.2395-10C>G) c.2493+128C>G (n.2493+128C>G) c.2314-10C>G (n.2314-10C>G) c.2308-10C>G (n.2308-10C>G) c.2445+128C>G (n.2445+128C>G) c.2236-10C>G (n.2236-10C>G) c.2208+1379C>G (n.2208+1379C>G) c.1456-10C>G (n.1456-10C>G) n.2732-10C>G | dbSNP gnomAD v4 |
17 | g.39725039C>T | CA2733616215 | ERBB2 | c.2494-10C>T (n.2494-10C>T) c.2404-10C>T (n.2404-10C>T) c.1666-10C>T (n.1666-10C>T) c.2449-10C>T (n.2449-10C>T) c.*2284-10C>T (n.*2284-10C>T) c.600-10C>T n.3628-10C>T n.2818-10C>T c.2632-10C>T (n.2632-10C>T) c.2587-10C>T (n.2587-10C>T) c.2542-10C>T (n.2542-10C>T) c.2611-10C>T (n.2611-10C>T) c.2596-10C>T (n.2596-10C>T) c.2575-10C>T (n.2575-10C>T) c.2569-10C>T (n.2569-10C>T) c.2524-10C>T (n.2524-10C>T) c.2515-10C>T (n.2515-10C>T) c.2491-10C>T (n.2491-10C>T) c.2485-10C>T (n.2485-10C>T) c.2458-10C>T (n.2458-10C>T) c.2452-10C>T (n.2452-10C>T) c.2446-10C>T (n.2446-10C>T) c.2395-10C>T (n.2395-10C>T) c.2493+128C>T (n.2493+128C>T) c.2314-10C>T (n.2314-10C>T) c.2308-10C>T (n.2308-10C>T) c.2445+128C>T (n.2445+128C>T) c.2236-10C>T (n.2236-10C>T) c.2208+1379C>T (n.2208+1379C>T) c.1456-10C>T (n.1456-10C>T) n.2732-10C>T | dbSNP |
17 | g.39725040C>A | CA2733616228 | ERBB2 | c.2494-9C>A (n.2494-9C>A) c.2404-9C>A (n.2404-9C>A) c.1666-9C>A (n.1666-9C>A) c.2449-9C>A (n.2449-9C>A) c.*2284-9C>A (n.*2284-9C>A) c.600-9C>A n.3628-9C>A n.2818-9C>A c.2632-9C>A (n.2632-9C>A) c.2587-9C>A (n.2587-9C>A) c.2542-9C>A (n.2542-9C>A) c.2611-9C>A (n.2611-9C>A) c.2596-9C>A (n.2596-9C>A) c.2575-9C>A (n.2575-9C>A) c.2569-9C>A (n.2569-9C>A) c.2524-9C>A (n.2524-9C>A) c.2515-9C>A (n.2515-9C>A) c.2491-9C>A (n.2491-9C>A) c.2485-9C>A (n.2485-9C>A) c.2458-9C>A (n.2458-9C>A) c.2452-9C>A (n.2452-9C>A) c.2446-9C>A (n.2446-9C>A) c.2395-9C>A (n.2395-9C>A) c.2493+129C>A (n.2493+129C>A) c.2314-9C>A (n.2314-9C>A) c.2308-9C>A (n.2308-9C>A) c.2445+129C>A (n.2445+129C>A) c.2236-9C>A (n.2236-9C>A) c.2208+1380C>A (n.2208+1380C>A) c.1456-9C>A (n.1456-9C>A) n.2732-9C>A | dbSNP |
17 | g.39725040C>G | CA2733616229 | ERBB2 | c.2494-9C>G (n.2494-9C>G) c.2404-9C>G (n.2404-9C>G) c.1666-9C>G (n.1666-9C>G) c.2449-9C>G (n.2449-9C>G) c.*2284-9C>G (n.*2284-9C>G) c.600-9C>G n.3628-9C>G n.2818-9C>G c.2632-9C>G (n.2632-9C>G) c.2587-9C>G (n.2587-9C>G) c.2542-9C>G (n.2542-9C>G) c.2611-9C>G (n.2611-9C>G) c.2596-9C>G (n.2596-9C>G) c.2575-9C>G (n.2575-9C>G) c.2569-9C>G (n.2569-9C>G) c.2524-9C>G (n.2524-9C>G) c.2515-9C>G (n.2515-9C>G) c.2491-9C>G (n.2491-9C>G) c.2485-9C>G (n.2485-9C>G) c.2458-9C>G (n.2458-9C>G) c.2452-9C>G (n.2452-9C>G) c.2446-9C>G (n.2446-9C>G) c.2395-9C>G (n.2395-9C>G) c.2493+129C>G (n.2493+129C>G) c.2314-9C>G (n.2314-9C>G) c.2308-9C>G (n.2308-9C>G) c.2445+129C>G (n.2445+129C>G) c.2236-9C>G (n.2236-9C>G) c.2208+1380C>G (n.2208+1380C>G) c.1456-9C>G (n.1456-9C>G) n.2732-9C>G | dbSNP |
17 | g.39725040C>T | CA2733616230 | ERBB2 | c.2494-9C>T (n.2494-9C>T) c.2404-9C>T (n.2404-9C>T) c.1666-9C>T (n.1666-9C>T) c.2449-9C>T (n.2449-9C>T) c.*2284-9C>T (n.*2284-9C>T) c.600-9C>T n.3628-9C>T n.2818-9C>T c.2632-9C>T (n.2632-9C>T) c.2587-9C>T (n.2587-9C>T) c.2542-9C>T (n.2542-9C>T) c.2611-9C>T (n.2611-9C>T) c.2596-9C>T (n.2596-9C>T) c.2575-9C>T (n.2575-9C>T) c.2569-9C>T (n.2569-9C>T) c.2524-9C>T (n.2524-9C>T) c.2515-9C>T (n.2515-9C>T) c.2491-9C>T (n.2491-9C>T) c.2485-9C>T (n.2485-9C>T) c.2458-9C>T (n.2458-9C>T) c.2452-9C>T (n.2452-9C>T) c.2446-9C>T (n.2446-9C>T) c.2395-9C>T (n.2395-9C>T) c.2493+129C>T (n.2493+129C>T) c.2314-9C>T (n.2314-9C>T) c.2308-9C>T (n.2308-9C>T) c.2445+129C>T (n.2445+129C>T) c.2236-9C>T (n.2236-9C>T) c.2208+1380C>T (n.2208+1380C>T) c.1456-9C>T (n.1456-9C>T) n.2732-9C>T | dbSNP |
17 | g.39725041C>A | CA2733230289 | ERBB2 | c.2494-8C>A (n.2494-8C>A) c.2404-8C>A (n.2404-8C>A) c.1666-8C>A (n.1666-8C>A) c.2449-8C>A (n.2449-8C>A) c.*2284-8C>A (n.*2284-8C>A) c.600-8C>A n.3628-8C>A n.2818-8C>A c.2632-8C>A (n.2632-8C>A) c.2587-8C>A (n.2587-8C>A) c.2542-8C>A (n.2542-8C>A) c.2611-8C>A (n.2611-8C>A) c.2596-8C>A (n.2596-8C>A) c.2575-8C>A (n.2575-8C>A) c.2569-8C>A (n.2569-8C>A) c.2524-8C>A (n.2524-8C>A) c.2515-8C>A (n.2515-8C>A) c.2491-8C>A (n.2491-8C>A) c.2485-8C>A (n.2485-8C>A) c.2458-8C>A (n.2458-8C>A) c.2452-8C>A (n.2452-8C>A) c.2446-8C>A (n.2446-8C>A) c.2395-8C>A (n.2395-8C>A) c.2493+130C>A (n.2493+130C>A) c.2314-8C>A (n.2314-8C>A) c.2308-8C>A (n.2308-8C>A) c.2445+130C>A (n.2445+130C>A) c.2236-8C>A (n.2236-8C>A) c.2208+1381C>A (n.2208+1381C>A) c.1456-8C>A (n.1456-8C>A) n.2732-8C>A | dbSNP |
17 | g.39725041C= | CA2259228115 | ERBB2 | c.2494-8C= (n.2494-8C=) c.2404-8C= (n.2404-8C=) c.1666-8C= (n.1666-8C=) c.2449-8C= (n.2449-8C=) c.*2284-8C= (n.*2284-8C=) c.600-8C= n.3628-8C= n.2818-8C= c.2632-8C= (n.2632-8C=) c.2587-8C= (n.2587-8C=) c.2542-8C= (n.2542-8C=) c.2611-8C= (n.2611-8C=) c.2596-8C= (n.2596-8C=) c.2575-8C= (n.2575-8C=) c.2569-8C= (n.2569-8C=) c.2524-8C= (n.2524-8C=) c.2515-8C= (n.2515-8C=) c.2491-8C= (n.2491-8C=) c.2485-8C= (n.2485-8C=) c.2458-8C= (n.2458-8C=) c.2452-8C= (n.2452-8C=) c.2446-8C= (n.2446-8C=) c.2395-8C= (n.2395-8C=) c.2493+130C= (n.2493+130C=) c.2314-8C= (n.2314-8C=) c.2308-8C= (n.2308-8C=) c.2445+130C= (n.2445+130C=) c.2236-8C= (n.2236-8C=) c.2208+1381C= (n.2208+1381C=) c.1456-8C= (n.1456-8C=) n.2732-8C= | |
17 | g.39725041C>G | CA2733230288 | ERBB2 | c.2494-8C>G (n.2494-8C>G) c.2404-8C>G (n.2404-8C>G) c.1666-8C>G (n.1666-8C>G) c.2449-8C>G (n.2449-8C>G) c.*2284-8C>G (n.*2284-8C>G) c.600-8C>G n.3628-8C>G n.2818-8C>G c.2632-8C>G (n.2632-8C>G) c.2587-8C>G (n.2587-8C>G) c.2542-8C>G (n.2542-8C>G) c.2611-8C>G (n.2611-8C>G) c.2596-8C>G (n.2596-8C>G) c.2575-8C>G (n.2575-8C>G) c.2569-8C>G (n.2569-8C>G) c.2524-8C>G (n.2524-8C>G) c.2515-8C>G (n.2515-8C>G) c.2491-8C>G (n.2491-8C>G) c.2485-8C>G (n.2485-8C>G) c.2458-8C>G (n.2458-8C>G) c.2452-8C>G (n.2452-8C>G) c.2446-8C>G (n.2446-8C>G) c.2395-8C>G (n.2395-8C>G) c.2493+130C>G (n.2493+130C>G) c.2314-8C>G (n.2314-8C>G) c.2308-8C>G (n.2308-8C>G) c.2445+130C>G (n.2445+130C>G) c.2236-8C>G (n.2236-8C>G) c.2208+1381C>G (n.2208+1381C>G) c.1456-8C>G (n.1456-8C>G) n.2732-8C>G | dbSNP |
17 | g.39725041C>T | CA626209383 | ERBB2 | c.2494-8C>T (n.2494-8C>T) c.2404-8C>T (n.2404-8C>T) c.1666-8C>T (n.1666-8C>T) c.2449-8C>T (n.2449-8C>T) c.*2284-8C>T (n.*2284-8C>T) c.600-8C>T n.3628-8C>T n.2818-8C>T c.2632-8C>T (n.2632-8C>T) c.2587-8C>T (n.2587-8C>T) c.2542-8C>T (n.2542-8C>T) c.2611-8C>T (n.2611-8C>T) c.2596-8C>T (n.2596-8C>T) c.2575-8C>T (n.2575-8C>T) c.2569-8C>T (n.2569-8C>T) c.2524-8C>T (n.2524-8C>T) c.2515-8C>T (n.2515-8C>T) c.2491-8C>T (n.2491-8C>T) c.2485-8C>T (n.2485-8C>T) c.2458-8C>T (n.2458-8C>T) c.2452-8C>T (n.2452-8C>T) c.2446-8C>T (n.2446-8C>T) c.2395-8C>T (n.2395-8C>T) c.2493+130C>T (n.2493+130C>T) c.2314-8C>T (n.2314-8C>T) c.2308-8C>T (n.2308-8C>T) c.2445+130C>T (n.2445+130C>T) c.2236-8C>T (n.2236-8C>T) c.2208+1381C>T (n.2208+1381C>T) c.1456-8C>T (n.1456-8C>T) n.2732-8C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725042A>C | CA2733616231 | ERBB2 | c.2494-7A>C (n.2494-7A>C) c.2404-7A>C (n.2404-7A>C) c.1666-7A>C (n.1666-7A>C) c.2449-7A>C (n.2449-7A>C) c.*2284-7A>C (n.*2284-7A>C) c.600-7A>C n.3628-7A>C n.2818-7A>C c.2632-7A>C (n.2632-7A>C) c.2587-7A>C (n.2587-7A>C) c.2542-7A>C (n.2542-7A>C) c.2611-7A>C (n.2611-7A>C) c.2596-7A>C (n.2596-7A>C) c.2575-7A>C (n.2575-7A>C) c.2569-7A>C (n.2569-7A>C) c.2524-7A>C (n.2524-7A>C) c.2515-7A>C (n.2515-7A>C) c.2491-7A>C (n.2491-7A>C) c.2485-7A>C (n.2485-7A>C) c.2458-7A>C (n.2458-7A>C) c.2452-7A>C (n.2452-7A>C) c.2446-7A>C (n.2446-7A>C) c.2395-7A>C (n.2395-7A>C) c.2493+131A>C (n.2493+131A>C) c.2314-7A>C (n.2314-7A>C) c.2308-7A>C (n.2308-7A>C) c.2445+131A>C (n.2445+131A>C) c.2236-7A>C (n.2236-7A>C) c.2208+1382A>C (n.2208+1382A>C) c.1456-7A>C (n.1456-7A>C) n.2732-7A>C | dbSNP |
17 | g.39725042A>T | CA2733616232 | ERBB2 | c.2494-7A>T (n.2494-7A>T) c.2404-7A>T (n.2404-7A>T) c.1666-7A>T (n.1666-7A>T) c.2449-7A>T (n.2449-7A>T) c.*2284-7A>T (n.*2284-7A>T) c.600-7A>T n.3628-7A>T n.2818-7A>T c.2632-7A>T (n.2632-7A>T) c.2587-7A>T (n.2587-7A>T) c.2542-7A>T (n.2542-7A>T) c.2611-7A>T (n.2611-7A>T) c.2596-7A>T (n.2596-7A>T) c.2575-7A>T (n.2575-7A>T) c.2569-7A>T (n.2569-7A>T) c.2524-7A>T (n.2524-7A>T) c.2515-7A>T (n.2515-7A>T) c.2491-7A>T (n.2491-7A>T) c.2485-7A>T (n.2485-7A>T) c.2458-7A>T (n.2458-7A>T) c.2452-7A>T (n.2452-7A>T) c.2446-7A>T (n.2446-7A>T) c.2395-7A>T (n.2395-7A>T) c.2493+131A>T (n.2493+131A>T) c.2314-7A>T (n.2314-7A>T) c.2308-7A>T (n.2308-7A>T) c.2445+131A>T (n.2445+131A>T) c.2236-7A>T (n.2236-7A>T) c.2208+1382A>T (n.2208+1382A>T) c.1456-7A>T (n.1456-7A>T) n.2732-7A>T | dbSNP |
17 | g.39725043T>A | CA2733206923 | ERBB2 | c.2494-6T>A (n.2494-6T>A) c.2404-6T>A (n.2404-6T>A) c.1666-6T>A (n.1666-6T>A) c.2449-6T>A (n.2449-6T>A) c.*2284-6T>A (n.*2284-6T>A) c.600-6T>A n.3628-6T>A n.2818-6T>A c.2632-6T>A (n.2632-6T>A) c.2587-6T>A (n.2587-6T>A) c.2542-6T>A (n.2542-6T>A) c.2611-6T>A (n.2611-6T>A) c.2596-6T>A (n.2596-6T>A) c.2575-6T>A (n.2575-6T>A) c.2569-6T>A (n.2569-6T>A) c.2524-6T>A (n.2524-6T>A) c.2515-6T>A (n.2515-6T>A) c.2491-6T>A (n.2491-6T>A) c.2485-6T>A (n.2485-6T>A) c.2458-6T>A (n.2458-6T>A) c.2452-6T>A (n.2452-6T>A) c.2446-6T>A (n.2446-6T>A) c.2395-6T>A (n.2395-6T>A) c.2493+132T>A (n.2493+132T>A) c.2314-6T>A (n.2314-6T>A) c.2308-6T>A (n.2308-6T>A) c.2445+132T>A (n.2445+132T>A) c.2236-6T>A (n.2236-6T>A) c.2208+1383T>A (n.2208+1383T>A) c.1456-6T>A (n.1456-6T>A) n.2732-6T>A | dbSNP |
17 | g.39725043T>C | CA8534320 | ERBB2 | c.2494-6T>C (n.2494-6T>C) c.2404-6T>C (n.2404-6T>C) c.1666-6T>C (n.1666-6T>C) c.2449-6T>C (n.2449-6T>C) c.*2284-6T>C (n.*2284-6T>C) c.600-6T>C n.3628-6T>C n.2818-6T>C c.2632-6T>C (n.2632-6T>C) c.2587-6T>C (n.2587-6T>C) c.2542-6T>C (n.2542-6T>C) c.2611-6T>C (n.2611-6T>C) c.2596-6T>C (n.2596-6T>C) c.2575-6T>C (n.2575-6T>C) c.2569-6T>C (n.2569-6T>C) c.2524-6T>C (n.2524-6T>C) c.2515-6T>C (n.2515-6T>C) c.2491-6T>C (n.2491-6T>C) c.2485-6T>C (n.2485-6T>C) c.2458-6T>C (n.2458-6T>C) c.2452-6T>C (n.2452-6T>C) c.2446-6T>C (n.2446-6T>C) c.2395-6T>C (n.2395-6T>C) c.2493+132T>C (n.2493+132T>C) c.2314-6T>C (n.2314-6T>C) c.2308-6T>C (n.2308-6T>C) c.2445+132T>C (n.2445+132T>C) c.2236-6T>C (n.2236-6T>C) c.2208+1383T>C (n.2208+1383T>C) c.1456-6T>C (n.1456-6T>C) n.2732-6T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725043T>G | CA2637622038 | ERBB2 | c.2494-6T>G (n.2494-6T>G) c.2404-6T>G (n.2404-6T>G) c.1666-6T>G (n.1666-6T>G) c.2449-6T>G (n.2449-6T>G) c.*2284-6T>G (n.*2284-6T>G) c.600-6T>G n.3628-6T>G n.2818-6T>G c.2632-6T>G (n.2632-6T>G) c.2587-6T>G (n.2587-6T>G) c.2542-6T>G (n.2542-6T>G) c.2611-6T>G (n.2611-6T>G) c.2596-6T>G (n.2596-6T>G) c.2575-6T>G (n.2575-6T>G) c.2569-6T>G (n.2569-6T>G) c.2524-6T>G (n.2524-6T>G) c.2515-6T>G (n.2515-6T>G) c.2491-6T>G (n.2491-6T>G) c.2485-6T>G (n.2485-6T>G) c.2458-6T>G (n.2458-6T>G) c.2452-6T>G (n.2452-6T>G) c.2446-6T>G (n.2446-6T>G) c.2395-6T>G (n.2395-6T>G) c.2493+132T>G (n.2493+132T>G) c.2314-6T>G (n.2314-6T>G) c.2308-6T>G (n.2308-6T>G) c.2445+132T>G (n.2445+132T>G) c.2236-6T>G (n.2236-6T>G) c.2208+1383T>G (n.2208+1383T>G) c.1456-6T>G (n.1456-6T>G) n.2732-6T>G | gnomAD v4 |
17 | g.39725043T= | CA2259228116 | ERBB2 | c.2494-6T= (n.2494-6T=) c.2404-6T= (n.2404-6T=) c.1666-6T= (n.1666-6T=) c.2449-6T= (n.2449-6T=) c.*2284-6T= (n.*2284-6T=) c.600-6T= n.3628-6T= n.2818-6T= c.2632-6T= (n.2632-6T=) c.2587-6T= (n.2587-6T=) c.2542-6T= (n.2542-6T=) c.2611-6T= (n.2611-6T=) c.2596-6T= (n.2596-6T=) c.2575-6T= (n.2575-6T=) c.2569-6T= (n.2569-6T=) c.2524-6T= (n.2524-6T=) c.2515-6T= (n.2515-6T=) c.2491-6T= (n.2491-6T=) c.2485-6T= (n.2485-6T=) c.2458-6T= (n.2458-6T=) c.2452-6T= (n.2452-6T=) c.2446-6T= (n.2446-6T=) c.2395-6T= (n.2395-6T=) c.2493+132T= (n.2493+132T=) c.2314-6T= (n.2314-6T=) c.2308-6T= (n.2308-6T=) c.2445+132T= (n.2445+132T=) c.2236-6T= (n.2236-6T=) c.2208+1383T= (n.2208+1383T=) c.1456-6T= (n.1456-6T=) n.2732-6T= | |
17 | g.39725045C>G | CA2733616234 | ERBB2 | c.2494-4C>G (n.2494-4C>G) c.2404-4C>G (n.2404-4C>G) c.1666-4C>G (n.1666-4C>G) c.2449-4C>G (n.2449-4C>G) c.*2284-4C>G (n.*2284-4C>G) c.600-4C>G n.3628-4C>G n.2818-4C>G c.2632-4C>G (n.2632-4C>G) c.2587-4C>G (n.2587-4C>G) c.2542-4C>G (n.2542-4C>G) c.2611-4C>G (n.2611-4C>G) c.2596-4C>G (n.2596-4C>G) c.2575-4C>G (n.2575-4C>G) c.2569-4C>G (n.2569-4C>G) c.2524-4C>G (n.2524-4C>G) c.2515-4C>G (n.2515-4C>G) c.2491-4C>G (n.2491-4C>G) c.2485-4C>G (n.2485-4C>G) c.2458-4C>G (n.2458-4C>G) c.2452-4C>G (n.2452-4C>G) c.2446-4C>G (n.2446-4C>G) c.2395-4C>G (n.2395-4C>G) c.2493+134C>G (n.2493+134C>G) c.2314-4C>G (n.2314-4C>G) c.2308-4C>G (n.2308-4C>G) c.2445+134C>G (n.2445+134C>G) c.2236-4C>G (n.2236-4C>G) c.2208+1385C>G (n.2208+1385C>G) c.1456-4C>G (n.1456-4C>G) n.2732-4C>G | dbSNP |
17 | g.39725045C>T | CA2637622040 | ERBB2 | c.2494-4C>T (n.2494-4C>T) c.2404-4C>T (n.2404-4C>T) c.1666-4C>T (n.1666-4C>T) c.2449-4C>T (n.2449-4C>T) c.*2284-4C>T (n.*2284-4C>T) c.600-4C>T n.3628-4C>T n.2818-4C>T c.2632-4C>T (n.2632-4C>T) c.2587-4C>T (n.2587-4C>T) c.2542-4C>T (n.2542-4C>T) c.2611-4C>T (n.2611-4C>T) c.2596-4C>T (n.2596-4C>T) c.2575-4C>T (n.2575-4C>T) c.2569-4C>T (n.2569-4C>T) c.2524-4C>T (n.2524-4C>T) c.2515-4C>T (n.2515-4C>T) c.2491-4C>T (n.2491-4C>T) c.2485-4C>T (n.2485-4C>T) c.2458-4C>T (n.2458-4C>T) c.2452-4C>T (n.2452-4C>T) c.2446-4C>T (n.2446-4C>T) c.2395-4C>T (n.2395-4C>T) c.2493+134C>T (n.2493+134C>T) c.2314-4C>T (n.2314-4C>T) c.2308-4C>T (n.2308-4C>T) c.2445+134C>T (n.2445+134C>T) c.2236-4C>T (n.2236-4C>T) c.2208+1385C>T (n.2208+1385C>T) c.1456-4C>T (n.1456-4C>T) n.2732-4C>T | dbSNP gnomAD v4 |
17 | g.39725046C= | CA2259228117 | ERBB2 | c.2494-3C= (n.2494-3C=) c.2404-3C= (n.2404-3C=) c.1666-3C= (n.1666-3C=) c.2449-3C= (n.2449-3C=) c.*2284-3C= (n.*2284-3C=) c.600-3C= n.3628-3C= n.2818-3C= c.2632-3C= (n.2632-3C=) c.2587-3C= (n.2587-3C=) c.2542-3C= (n.2542-3C=) c.2611-3C= (n.2611-3C=) c.2596-3C= (n.2596-3C=) c.2575-3C= (n.2575-3C=) c.2569-3C= (n.2569-3C=) c.2524-3C= (n.2524-3C=) c.2515-3C= (n.2515-3C=) c.2491-3C= (n.2491-3C=) c.2485-3C= (n.2485-3C=) c.2458-3C= (n.2458-3C=) c.2452-3C= (n.2452-3C=) c.2446-3C= (n.2446-3C=) c.2395-3C= (n.2395-3C=) c.2493+135C= (n.2493+135C=) c.2314-3C= (n.2314-3C=) c.2308-3C= (n.2308-3C=) c.2445+135C= (n.2445+135C=) c.2236-3C= (n.2236-3C=) c.2208+1386C= (n.2208+1386C=) c.1456-3C= (n.1456-3C=) n.2732-3C= | |
17 | g.39725046C>T | CA269844 | ERBB2 | c.2494-3C>T (n.2494-3C>T) c.2404-3C>T (n.2404-3C>T) c.1666-3C>T (n.1666-3C>T) c.2449-3C>T (n.2449-3C>T) c.*2284-3C>T (n.*2284-3C>T) c.600-3C>T n.3628-3C>T n.2818-3C>T c.2632-3C>T (n.2632-3C>T) c.2587-3C>T (n.2587-3C>T) c.2542-3C>T (n.2542-3C>T) c.2611-3C>T (n.2611-3C>T) c.2596-3C>T (n.2596-3C>T) c.2575-3C>T (n.2575-3C>T) c.2569-3C>T (n.2569-3C>T) c.2524-3C>T (n.2524-3C>T) c.2515-3C>T (n.2515-3C>T) c.2491-3C>T (n.2491-3C>T) c.2485-3C>T (n.2485-3C>T) c.2458-3C>T (n.2458-3C>T) c.2452-3C>T (n.2452-3C>T) c.2446-3C>T (n.2446-3C>T) c.2395-3C>T (n.2395-3C>T) c.2493+135C>T (n.2493+135C>T) c.2314-3C>T (n.2314-3C>T) c.2308-3C>T (n.2308-3C>T) c.2445+135C>T (n.2445+135C>T) c.2236-3C>T (n.2236-3C>T) c.2208+1386C>T (n.2208+1386C>T) c.1456-3C>T (n.1456-3C>T) n.2732-3C>T | ClinVar dbSNP |
17 | g.39725047A>C | CA399304061 | ERBB2 | c.2494-2A>C (n.2494-2A>C) c.2404-2A>C (n.2404-2A>C) c.1666-2A>C (n.1666-2A>C) c.2449-2A>C (n.2449-2A>C) c.*2284-2A>C (n.*2284-2A>C) c.600-2A>C n.3628-2A>C n.2818-2A>C c.2632-2A>C (n.2632-2A>C) c.2587-2A>C (n.2587-2A>C) c.2542-2A>C (n.2542-2A>C) c.2611-2A>C (n.2611-2A>C) c.2596-2A>C (n.2596-2A>C) c.2575-2A>C (n.2575-2A>C) c.2569-2A>C (n.2569-2A>C) c.2524-2A>C (n.2524-2A>C) c.2515-2A>C (n.2515-2A>C) c.2491-2A>C (n.2491-2A>C) c.2485-2A>C (n.2485-2A>C) c.2458-2A>C (n.2458-2A>C) c.2452-2A>C (n.2452-2A>C) c.2446-2A>C (n.2446-2A>C) c.2395-2A>C (n.2395-2A>C) c.2493+136A>C (n.2493+136A>C) c.2314-2A>C (n.2314-2A>C) c.2308-2A>C (n.2308-2A>C) c.2445+136A>C (n.2445+136A>C) c.2236-2A>C (n.2236-2A>C) c.2208+1387A>C (n.2208+1387A>C) c.1456-2A>C (n.1456-2A>C) n.2732-2A>C | |
17 | g.39725047A>G | CA399304062 | ERBB2 | c.2494-2A>G (n.2494-2A>G) c.2404-2A>G (n.2404-2A>G) c.1666-2A>G (n.1666-2A>G) c.2449-2A>G (n.2449-2A>G) c.*2284-2A>G (n.*2284-2A>G) c.600-2A>G n.3628-2A>G n.2818-2A>G c.2632-2A>G (n.2632-2A>G) c.2587-2A>G (n.2587-2A>G) c.2542-2A>G (n.2542-2A>G) c.2611-2A>G (n.2611-2A>G) c.2596-2A>G (n.2596-2A>G) c.2575-2A>G (n.2575-2A>G) c.2569-2A>G (n.2569-2A>G) c.2524-2A>G (n.2524-2A>G) c.2515-2A>G (n.2515-2A>G) c.2491-2A>G (n.2491-2A>G) c.2485-2A>G (n.2485-2A>G) c.2458-2A>G (n.2458-2A>G) c.2452-2A>G (n.2452-2A>G) c.2446-2A>G (n.2446-2A>G) c.2395-2A>G (n.2395-2A>G) c.2493+136A>G (n.2493+136A>G) c.2314-2A>G (n.2314-2A>G) c.2308-2A>G (n.2308-2A>G) c.2445+136A>G (n.2445+136A>G) c.2236-2A>G (n.2236-2A>G) c.2208+1387A>G (n.2208+1387A>G) c.1456-2A>G (n.1456-2A>G) n.2732-2A>G | |
17 | g.39725047A>T | CA399304063 | ERBB2 | c.2494-2A>T (n.2494-2A>T) c.2404-2A>T (n.2404-2A>T) c.1666-2A>T (n.1666-2A>T) c.2449-2A>T (n.2449-2A>T) c.*2284-2A>T (n.*2284-2A>T) c.600-2A>T n.3628-2A>T n.2818-2A>T c.2632-2A>T (n.2632-2A>T) c.2587-2A>T (n.2587-2A>T) c.2542-2A>T (n.2542-2A>T) c.2611-2A>T (n.2611-2A>T) c.2596-2A>T (n.2596-2A>T) c.2575-2A>T (n.2575-2A>T) c.2569-2A>T (n.2569-2A>T) c.2524-2A>T (n.2524-2A>T) c.2515-2A>T (n.2515-2A>T) c.2491-2A>T (n.2491-2A>T) c.2485-2A>T (n.2485-2A>T) c.2458-2A>T (n.2458-2A>T) c.2452-2A>T (n.2452-2A>T) c.2446-2A>T (n.2446-2A>T) c.2395-2A>T (n.2395-2A>T) c.2493+136A>T (n.2493+136A>T) c.2314-2A>T (n.2314-2A>T) c.2308-2A>T (n.2308-2A>T) c.2445+136A>T (n.2445+136A>T) c.2236-2A>T (n.2236-2A>T) c.2208+1387A>T (n.2208+1387A>T) c.1456-2A>T (n.1456-2A>T) n.2732-2A>T | |
17 | g.39725048G>A | CA399304064 | ERBB2 | c.2494-1G>A (n.2494-1G>A) c.2404-1G>A (n.2404-1G>A) c.1666-1G>A (n.1666-1G>A) c.2449-1G>A (n.2449-1G>A) c.*2284-1G>A (n.*2284-1G>A) c.600-1G>A n.3628-1G>A n.2818-1G>A c.2632-1G>A (n.2632-1G>A) c.2587-1G>A (n.2587-1G>A) c.2542-1G>A (n.2542-1G>A) c.2611-1G>A (n.2611-1G>A) c.2596-1G>A (n.2596-1G>A) c.2575-1G>A (n.2575-1G>A) c.2569-1G>A (n.2569-1G>A) c.2524-1G>A (n.2524-1G>A) c.2515-1G>A (n.2515-1G>A) c.2491-1G>A (n.2491-1G>A) c.2485-1G>A (n.2485-1G>A) c.2458-1G>A (n.2458-1G>A) c.2452-1G>A (n.2452-1G>A) c.2446-1G>A (n.2446-1G>A) c.2395-1G>A (n.2395-1G>A) c.2493+137G>A (n.2493+137G>A) c.2314-1G>A (n.2314-1G>A) c.2308-1G>A (n.2308-1G>A) c.2445+137G>A (n.2445+137G>A) c.2236-1G>A (n.2236-1G>A) c.2208+1388G>A (n.2208+1388G>A) c.1456-1G>A (n.1456-1G>A) n.2732-1G>A | |
17 | g.39725048G>C | CA399304065 | ERBB2 | c.2494-1G>C (n.2494-1G>C) c.2404-1G>C (n.2404-1G>C) c.1666-1G>C (n.1666-1G>C) c.2449-1G>C (n.2449-1G>C) c.*2284-1G>C (n.*2284-1G>C) c.600-1G>C n.3628-1G>C n.2818-1G>C c.2632-1G>C (n.2632-1G>C) c.2587-1G>C (n.2587-1G>C) c.2542-1G>C (n.2542-1G>C) c.2611-1G>C (n.2611-1G>C) c.2596-1G>C (n.2596-1G>C) c.2575-1G>C (n.2575-1G>C) c.2569-1G>C (n.2569-1G>C) c.2524-1G>C (n.2524-1G>C) c.2515-1G>C (n.2515-1G>C) c.2491-1G>C (n.2491-1G>C) c.2485-1G>C (n.2485-1G>C) c.2458-1G>C (n.2458-1G>C) c.2452-1G>C (n.2452-1G>C) c.2446-1G>C (n.2446-1G>C) c.2395-1G>C (n.2395-1G>C) c.2493+137G>C (n.2493+137G>C) c.2314-1G>C (n.2314-1G>C) c.2308-1G>C (n.2308-1G>C) c.2445+137G>C (n.2445+137G>C) c.2236-1G>C (n.2236-1G>C) c.2208+1388G>C (n.2208+1388G>C) c.1456-1G>C (n.1456-1G>C) n.2732-1G>C | |
17 | g.39725048G>T | CA399304066 | ERBB2 | c.2494-1G>T (n.2494-1G>T) c.2404-1G>T (n.2404-1G>T) c.1666-1G>T (n.1666-1G>T) c.2449-1G>T (n.2449-1G>T) c.*2284-1G>T (n.*2284-1G>T) c.600-1G>T n.3628-1G>T n.2818-1G>T c.2632-1G>T (n.2632-1G>T) c.2587-1G>T (n.2587-1G>T) c.2542-1G>T (n.2542-1G>T) c.2611-1G>T (n.2611-1G>T) c.2596-1G>T (n.2596-1G>T) c.2575-1G>T (n.2575-1G>T) c.2569-1G>T (n.2569-1G>T) c.2524-1G>T (n.2524-1G>T) c.2515-1G>T (n.2515-1G>T) c.2491-1G>T (n.2491-1G>T) c.2485-1G>T (n.2485-1G>T) c.2458-1G>T (n.2458-1G>T) c.2452-1G>T (n.2452-1G>T) c.2446-1G>T (n.2446-1G>T) c.2395-1G>T (n.2395-1G>T) c.2493+137G>T (n.2493+137G>T) c.2314-1G>T (n.2314-1G>T) c.2308-1G>T (n.2308-1G>T) c.2445+137G>T (n.2445+137G>T) c.2236-1G>T (n.2236-1G>T) c.2208+1388G>T (n.2208+1388G>T) c.1456-1G>T (n.1456-1G>T) n.2732-1G>T | |
17 | g.39725049G>A | CA399304069 | ERBB2 | c.2494G>A (p.Gly832Arg) c.2404G>A (p.Gly802Arg) c.1666G>A (p.Gly556Arg) c.2449G>A (p.Gly817Arg) c.*2284G>A (n.*2284G>A) c.600G>A n.3628G>A n.2818G>A c.2632G>A (p.Gly878Arg) c.2587G>A (p.Gly863Arg) c.2542G>A (p.Gly848Arg) c.2611G>A (p.Gly871Arg) c.2596G>A (p.Gly866Arg) c.2575G>A (p.Gly859Arg) c.2569G>A (p.Gly857Arg) c.2524G>A (p.Gly842Arg) c.2515G>A (p.Gly839Arg) c.2491G>A (p.Gly831Arg) c.2485G>A (p.Gly829Arg) c.2458G>A (p.Gly820Arg) c.2452G>A (p.Gly818Arg) c.2446G>A (p.Gly816Arg) c.2395G>A (p.Gly799Arg) c.2493+138G>A (n.2493+138G>A) c.2314G>A (p.Gly772Arg) c.2308G>A (p.Gly770Arg) c.2445+138G>A (n.2445+138G>A) c.2236G>A (p.Gly746Arg) c.2208+1389G>A (n.2208+1389G>A) c.1456G>A (p.Gly486Arg) n.2732G>A | |
17 | g.39725049G>C | CA399304068 | ERBB2 | c.2494G>C (p.Gly832Arg) c.2404G>C (p.Gly802Arg) c.1666G>C (p.Gly556Arg) c.2449G>C (p.Gly817Arg) c.*2284G>C (n.*2284G>C) c.600G>C n.3628G>C n.2818G>C c.2632G>C (p.Gly878Arg) c.2587G>C (p.Gly863Arg) c.2542G>C (p.Gly848Arg) c.2611G>C (p.Gly871Arg) c.2596G>C (p.Gly866Arg) c.2575G>C (p.Gly859Arg) c.2569G>C (p.Gly857Arg) c.2524G>C (p.Gly842Arg) c.2515G>C (p.Gly839Arg) c.2491G>C (p.Gly831Arg) c.2485G>C (p.Gly829Arg) c.2458G>C (p.Gly820Arg) c.2452G>C (p.Gly818Arg) c.2446G>C (p.Gly816Arg) c.2395G>C (p.Gly799Arg) c.2493+138G>C (n.2493+138G>C) c.2314G>C (p.Gly772Arg) c.2308G>C (p.Gly770Arg) c.2445+138G>C (n.2445+138G>C) c.2236G>C (p.Gly746Arg) c.2208+1389G>C (n.2208+1389G>C) c.1456G>C (p.Gly486Arg) n.2732G>C | |
17 | g.39725049G>T | CA399304067 | ERBB2 | c.2494G>T (p.Gly832Trp) c.2404G>T (p.Gly802Trp) c.1666G>T (p.Gly556Trp) c.2449G>T (p.Gly817Trp) c.*2284G>T (n.*2284G>T) c.600G>T n.3628G>T n.2818G>T c.2632G>T (p.Gly878Trp) c.2587G>T (p.Gly863Trp) c.2542G>T (p.Gly848Trp) c.2611G>T (p.Gly871Trp) c.2596G>T (p.Gly866Trp) c.2575G>T (p.Gly859Trp) c.2569G>T (p.Gly857Trp) c.2524G>T (p.Gly842Trp) c.2515G>T (p.Gly839Trp) c.2491G>T (p.Gly831Trp) c.2485G>T (p.Gly829Trp) c.2458G>T (p.Gly820Trp) c.2452G>T (p.Gly818Trp) c.2446G>T (p.Gly816Trp) c.2395G>T (p.Gly799Trp) c.2493+138G>T (n.2493+138G>T) c.2314G>T (p.Gly772Trp) c.2308G>T (p.Gly770Trp) c.2445+138G>T (n.2445+138G>T) c.2236G>T (p.Gly746Trp) c.2208+1389G>T (n.2208+1389G>T) c.1456G>T (p.Gly486Trp) n.2732G>T | |
17 | g.39725050G>A | CA399304070 | ERBB2 | c.2495G>A (p.Gly832Glu) c.2405G>A (p.Gly802Glu) c.1667G>A (p.Gly556Glu) c.2450G>A (p.Gly817Glu) c.*2285G>A (n.*2285G>A) c.601G>A n.3629G>A n.2819G>A c.2633G>A (p.Gly878Glu) c.2588G>A (p.Gly863Glu) c.2543G>A (p.Gly848Glu) c.2612G>A (p.Gly871Glu) c.2597G>A (p.Gly866Glu) c.2576G>A (p.Gly859Glu) c.2570G>A (p.Gly857Glu) c.2525G>A (p.Gly842Glu) c.2516G>A (p.Gly839Glu) c.2492G>A (p.Gly831Glu) c.2486G>A (p.Gly829Glu) c.2459G>A (p.Gly820Glu) c.2453G>A (p.Gly818Glu) c.2447G>A (p.Gly816Glu) c.2396G>A (p.Gly799Glu) c.2493+139G>A (n.2493+139G>A) c.2315G>A (p.Gly772Glu) c.2309G>A (p.Gly770Glu) c.2445+139G>A (n.2445+139G>A) c.2237G>A (p.Gly746Glu) c.2208+1390G>A (n.2208+1390G>A) c.1457G>A (p.Gly486Glu) n.2733G>A | dbSNP |
17 | g.39725050G>C | CA399304071 | ERBB2 | c.2495G>C (p.Gly832Ala) c.2405G>C (p.Gly802Ala) c.1667G>C (p.Gly556Ala) c.2450G>C (p.Gly817Ala) c.*2285G>C (n.*2285G>C) c.601G>C n.3629G>C n.2819G>C c.2633G>C (p.Gly878Ala) c.2588G>C (p.Gly863Ala) c.2543G>C (p.Gly848Ala) c.2612G>C (p.Gly871Ala) c.2597G>C (p.Gly866Ala) c.2576G>C (p.Gly859Ala) c.2570G>C (p.Gly857Ala) c.2525G>C (p.Gly842Ala) c.2516G>C (p.Gly839Ala) c.2492G>C (p.Gly831Ala) c.2486G>C (p.Gly829Ala) c.2459G>C (p.Gly820Ala) c.2453G>C (p.Gly818Ala) c.2447G>C (p.Gly816Ala) c.2396G>C (p.Gly799Ala) c.2493+139G>C (n.2493+139G>C) c.2315G>C (p.Gly772Ala) c.2309G>C (p.Gly770Ala) c.2445+139G>C (n.2445+139G>C) c.2237G>C (p.Gly746Ala) c.2208+1390G>C (n.2208+1390G>C) c.1457G>C (p.Gly486Ala) n.2733G>C | dbSNP gnomAD v4 |
17 | g.39725050G>T | CA399304072 | ERBB2 | c.2495G>T (p.Gly832Val) c.2405G>T (p.Gly802Val) c.1667G>T (p.Gly556Val) c.2450G>T (p.Gly817Val) c.*2285G>T (n.*2285G>T) c.601G>T n.3629G>T n.2819G>T c.2633G>T (p.Gly878Val) c.2588G>T (p.Gly863Val) c.2543G>T (p.Gly848Val) c.2612G>T (p.Gly871Val) c.2597G>T (p.Gly866Val) c.2576G>T (p.Gly859Val) c.2570G>T (p.Gly857Val) c.2525G>T (p.Gly842Val) c.2516G>T (p.Gly839Val) c.2492G>T (p.Gly831Val) c.2486G>T (p.Gly829Val) c.2459G>T (p.Gly820Val) c.2453G>T (p.Gly818Val) c.2447G>T (p.Gly816Val) c.2396G>T (p.Gly799Val) c.2493+139G>T (n.2493+139G>T) c.2315G>T (p.Gly772Val) c.2309G>T (p.Gly770Val) c.2445+139G>T (n.2445+139G>T) c.2237G>T (p.Gly746Val) c.2208+1390G>T (n.2208+1390G>T) c.1457G>T (p.Gly486Val) n.2733G>T | dbSNP |
17 | g.39725051G>A | CA499890058 | ERBB2 | c.2496G>A (p.Gly832=) c.2406G>A (p.Gly802=) c.1668G>A (p.Gly556=) c.2451G>A (p.Gly817=) c.*2286G>A (n.*2286G>A) c.602G>A n.3630G>A n.2820G>A c.2634G>A (p.Gly878=) c.2589G>A (p.Gly863=) c.2544G>A (p.Gly848=) c.2613G>A (p.Gly871=) c.2598G>A (p.Gly866=) c.2577G>A (p.Gly859=) c.2571G>A (p.Gly857=) c.2526G>A (p.Gly842=) c.2517G>A (p.Gly839=) c.2493G>A (p.Gly831=) c.2487G>A (p.Gly829=) c.2460G>A (p.Gly820=) c.2454G>A (p.Gly818=) c.2448G>A (p.Gly816=) c.2397G>A (p.Gly799=) c.2493+140G>A (n.2493+140G>A) c.2316G>A (p.Gly772=) c.2310G>A (p.Gly770=) c.2445+140G>A (n.2445+140G>A) c.2238G>A (p.Gly746=) c.2208+1391G>A (n.2208+1391G>A) c.1458G>A (p.Gly486=) n.2734G>A | dbSNP |
17 | g.39725051G>C | CA499890059 | ERBB2 | c.2496G>C (p.Gly832=) c.2406G>C (p.Gly802=) c.1668G>C (p.Gly556=) c.2451G>C (p.Gly817=) c.*2286G>C (n.*2286G>C) c.602G>C n.3630G>C n.2820G>C c.2634G>C (p.Gly878=) c.2589G>C (p.Gly863=) c.2544G>C (p.Gly848=) c.2613G>C (p.Gly871=) c.2598G>C (p.Gly866=) c.2577G>C (p.Gly859=) c.2571G>C (p.Gly857=) c.2526G>C (p.Gly842=) c.2517G>C (p.Gly839=) c.2493G>C (p.Gly831=) c.2487G>C (p.Gly829=) c.2460G>C (p.Gly820=) c.2454G>C (p.Gly818=) c.2448G>C (p.Gly816=) c.2397G>C (p.Gly799=) c.2493+140G>C (n.2493+140G>C) c.2316G>C (p.Gly772=) c.2310G>C (p.Gly770=) c.2445+140G>C (n.2445+140G>C) c.2238G>C (p.Gly746=) c.2208+1391G>C (n.2208+1391G>C) c.1458G>C (p.Gly486=) n.2734G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39725051G= | CA2259228118 | ERBB2 | c.2496G= (p.Gly832=) c.2406G= (p.Gly802=) c.1668G= (p.Gly556=) c.2451G= (p.Gly817=) c.*2286G= (n.*2286G=) c.602G= n.3630G= n.2820G= c.2634G= (p.Gly878=) c.2589G= (p.Gly863=) c.2544G= (p.Gly848=) c.2613G= (p.Gly871=) c.2598G= (p.Gly866=) c.2577G= (p.Gly859=) c.2571G= (p.Gly857=) c.2526G= (p.Gly842=) c.2517G= (p.Gly839=) c.2493G= (p.Gly831=) c.2487G= (p.Gly829=) c.2460G= (p.Gly820=) c.2454G= (p.Gly818=) c.2448G= (p.Gly816=) c.2397G= (p.Gly799=) c.2493+140G= (n.2493+140G=) c.2316G= (p.Gly772=) c.2310G= (p.Gly770=) c.2445+140G= (n.2445+140G=) c.2238G= (p.Gly746=) c.2208+1391G= (n.2208+1391G=) c.1458G= (p.Gly486=) n.2734G= | |
17 | g.39725051G>T | CA499890061 | ERBB2 | c.2496G>T (p.Gly832=) c.2406G>T (p.Gly802=) c.1668G>T (p.Gly556=) c.2451G>T (p.Gly817=) c.*2286G>T (n.*2286G>T) c.602G>T n.3630G>T n.2820G>T c.2634G>T (p.Gly878=) c.2589G>T (p.Gly863=) c.2544G>T (p.Gly848=) c.2613G>T (p.Gly871=) c.2598G>T (p.Gly866=) c.2577G>T (p.Gly859=) c.2571G>T (p.Gly857=) c.2526G>T (p.Gly842=) c.2517G>T (p.Gly839=) c.2493G>T (p.Gly831=) c.2487G>T (p.Gly829=) c.2460G>T (p.Gly820=) c.2454G>T (p.Gly818=) c.2448G>T (p.Gly816=) c.2397G>T (p.Gly799=) c.2493+140G>T (n.2493+140G>T) c.2316G>T (p.Gly772=) c.2310G>T (p.Gly770=) c.2445+140G>T (n.2445+140G>T) c.2238G>T (p.Gly746=) c.2208+1391G>T (n.2208+1391G>T) c.1458G>T (p.Gly486=) n.2734G>T | dbSNP gnomAD v4 |
17 | g.39725052A>C | CA399304073 | ERBB2 | c.2497A>C (p.Met833Leu) c.2407A>C (p.Met803Leu) c.1669A>C (p.Met557Leu) c.2452A>C (p.Met818Leu) c.*2287A>C (n.*2287A>C) c.603A>C n.3631A>C n.2821A>C c.2635A>C (p.Met879Leu) c.2590A>C (p.Met864Leu) c.2545A>C (p.Met849Leu) c.2614A>C (p.Met872Leu) c.2599A>C (p.Met867Leu) c.2578A>C (p.Met860Leu) c.2572A>C (p.Met858Leu) c.2527A>C (p.Met843Leu) c.2518A>C (p.Met840Leu) c.2494A>C (p.Met832Leu) c.2488A>C (p.Met830Leu) c.2461A>C (p.Met821Leu) c.2455A>C (p.Met819Leu) c.2449A>C (p.Met817Leu) c.2398A>C (p.Met800Leu) c.2493+141A>C (n.2493+141A>C) c.2317A>C (p.Met773Leu) c.2311A>C (p.Met771Leu) c.2445+141A>C (n.2445+141A>C) c.2239A>C (p.Met747Leu) c.2208+1392A>C (n.2208+1392A>C) c.1459A>C (p.Met487Leu) n.2735A>C | |
17 | g.39725052A>G | CA399304074 | ERBB2 | c.2497A>G (p.Met833Val) c.2407A>G (p.Met803Val) c.1669A>G (p.Met557Val) c.2452A>G (p.Met818Val) c.*2287A>G (n.*2287A>G) c.603A>G n.3631A>G n.2821A>G c.2635A>G (p.Met879Val) c.2590A>G (p.Met864Val) c.2545A>G (p.Met849Val) c.2614A>G (p.Met872Val) c.2599A>G (p.Met867Val) c.2578A>G (p.Met860Val) c.2572A>G (p.Met858Val) c.2527A>G (p.Met843Val) c.2518A>G (p.Met840Val) c.2494A>G (p.Met832Val) c.2488A>G (p.Met830Val) c.2461A>G (p.Met821Val) c.2455A>G (p.Met819Val) c.2449A>G (p.Met817Val) c.2398A>G (p.Met800Val) c.2493+141A>G (n.2493+141A>G) c.2317A>G (p.Met773Val) c.2311A>G (p.Met771Val) c.2445+141A>G (n.2445+141A>G) c.2239A>G (p.Met747Val) c.2208+1392A>G (n.2208+1392A>G) c.1459A>G (p.Met487Val) n.2735A>G | dbSNP |
17 | g.39725052A>T | CA399304075 | ERBB2 | c.2497A>T (p.Met833Leu) c.2407A>T (p.Met803Leu) c.1669A>T (p.Met557Leu) c.2452A>T (p.Met818Leu) c.*2287A>T (n.*2287A>T) c.603A>T n.3631A>T n.2821A>T c.2635A>T (p.Met879Leu) c.2590A>T (p.Met864Leu) c.2545A>T (p.Met849Leu) c.2614A>T (p.Met872Leu) c.2599A>T (p.Met867Leu) c.2578A>T (p.Met860Leu) c.2572A>T (p.Met858Leu) c.2527A>T (p.Met843Leu) c.2518A>T (p.Met840Leu) c.2494A>T (p.Met832Leu) c.2488A>T (p.Met830Leu) c.2461A>T (p.Met821Leu) c.2455A>T (p.Met819Leu) c.2449A>T (p.Met817Leu) c.2398A>T (p.Met800Leu) c.2493+141A>T (n.2493+141A>T) c.2317A>T (p.Met773Leu) c.2311A>T (p.Met771Leu) c.2445+141A>T (n.2445+141A>T) c.2239A>T (p.Met747Leu) c.2208+1392A>T (n.2208+1392A>T) c.1459A>T (p.Met487Leu) n.2735A>T | dbSNP |
17 | g.39725053T>A | CA399304076 | ERBB2 | c.2498T>A (p.Met833Lys) c.2408T>A (p.Met803Lys) c.1670T>A (p.Met557Lys) c.2453T>A (p.Met818Lys) c.*2288T>A (n.*2288T>A) c.604T>A n.3632T>A n.2822T>A c.2636T>A (p.Met879Lys) c.2591T>A (p.Met864Lys) c.2546T>A (p.Met849Lys) c.2615T>A (p.Met872Lys) c.2600T>A (p.Met867Lys) c.2579T>A (p.Met860Lys) c.2573T>A (p.Met858Lys) c.2528T>A (p.Met843Lys) c.2519T>A (p.Met840Lys) c.2495T>A (p.Met832Lys) c.2489T>A (p.Met830Lys) c.2462T>A (p.Met821Lys) c.2456T>A (p.Met819Lys) c.2450T>A (p.Met817Lys) c.2399T>A (p.Met800Lys) c.2493+142T>A (n.2493+142T>A) c.2318T>A (p.Met773Lys) c.2312T>A (p.Met771Lys) c.2445+142T>A (n.2445+142T>A) c.2240T>A (p.Met747Lys) c.2208+1393T>A (n.2208+1393T>A) c.1460T>A (p.Met487Lys) n.2736T>A | dbSNP |
17 | g.39725053T>C | CA399304077 | ERBB2 | c.2498T>C (p.Met833Thr) c.2408T>C (p.Met803Thr) c.1670T>C (p.Met557Thr) c.2453T>C (p.Met818Thr) c.*2288T>C (n.*2288T>C) c.604T>C n.3632T>C n.2822T>C c.2636T>C (p.Met879Thr) c.2591T>C (p.Met864Thr) c.2546T>C (p.Met849Thr) c.2615T>C (p.Met872Thr) c.2600T>C (p.Met867Thr) c.2579T>C (p.Met860Thr) c.2573T>C (p.Met858Thr) c.2528T>C (p.Met843Thr) c.2519T>C (p.Met840Thr) c.2495T>C (p.Met832Thr) c.2489T>C (p.Met830Thr) c.2462T>C (p.Met821Thr) c.2456T>C (p.Met819Thr) c.2450T>C (p.Met817Thr) c.2399T>C (p.Met800Thr) c.2493+142T>C (n.2493+142T>C) c.2318T>C (p.Met773Thr) c.2312T>C (p.Met771Thr) c.2445+142T>C (n.2445+142T>C) c.2240T>C (p.Met747Thr) c.2208+1393T>C (n.2208+1393T>C) c.1460T>C (p.Met487Thr) n.2736T>C | dbSNP |
17 | g.39725053T>G | CA399304078 | ERBB2 | c.2498T>G (p.Met833Arg) c.2408T>G (p.Met803Arg) c.1670T>G (p.Met557Arg) c.2453T>G (p.Met818Arg) c.*2288T>G (n.*2288T>G) c.604T>G n.3632T>G n.2822T>G c.2636T>G (p.Met879Arg) c.2591T>G (p.Met864Arg) c.2546T>G (p.Met849Arg) c.2615T>G (p.Met872Arg) c.2600T>G (p.Met867Arg) c.2579T>G (p.Met860Arg) c.2573T>G (p.Met858Arg) c.2528T>G (p.Met843Arg) c.2519T>G (p.Met840Arg) c.2495T>G (p.Met832Arg) c.2489T>G (p.Met830Arg) c.2462T>G (p.Met821Arg) c.2456T>G (p.Met819Arg) c.2450T>G (p.Met817Arg) c.2399T>G (p.Met800Arg) c.2493+142T>G (n.2493+142T>G) c.2318T>G (p.Met773Arg) c.2312T>G (p.Met771Arg) c.2445+142T>G (n.2445+142T>G) c.2240T>G (p.Met747Arg) c.2208+1393T>G (n.2208+1393T>G) c.1460T>G (p.Met487Arg) n.2736T>G | dbSNP gnomAD v4 |
17 | g.39725054G>A | CA399304079 | ERBB2 | c.2499G>A (p.Met833Ile) c.2409G>A (p.Met803Ile) c.1671G>A (p.Met557Ile) c.2454G>A (p.Met818Ile) c.*2289G>A (n.*2289G>A) c.605G>A n.3633G>A n.2823G>A c.2637G>A (p.Met879Ile) c.2592G>A (p.Met864Ile) c.2547G>A (p.Met849Ile) c.2616G>A (p.Met872Ile) c.2601G>A (p.Met867Ile) c.2580G>A (p.Met860Ile) c.2574G>A (p.Met858Ile) c.2529G>A (p.Met843Ile) c.2520G>A (p.Met840Ile) c.2496G>A (p.Met832Ile) c.2490G>A (p.Met830Ile) c.2463G>A (p.Met821Ile) c.2457G>A (p.Met819Ile) c.2451G>A (p.Met817Ile) c.2400G>A (p.Met800Ile) c.2493+143G>A (n.2493+143G>A) c.2319G>A (p.Met773Ile) c.2313G>A (p.Met771Ile) c.2445+143G>A (n.2445+143G>A) c.2241G>A (p.Met747Ile) c.2208+1394G>A (n.2208+1394G>A) c.1461G>A (p.Met487Ile) n.2737G>A | dbSNP |
17 | g.39725054G>C | CA399304080 | ERBB2 | c.2499G>C (p.Met833Ile) c.2409G>C (p.Met803Ile) c.1671G>C (p.Met557Ile) c.2454G>C (p.Met818Ile) c.*2289G>C (n.*2289G>C) c.605G>C n.3633G>C n.2823G>C c.2637G>C (p.Met879Ile) c.2592G>C (p.Met864Ile) c.2547G>C (p.Met849Ile) c.2616G>C (p.Met872Ile) c.2601G>C (p.Met867Ile) c.2580G>C (p.Met860Ile) c.2574G>C (p.Met858Ile) c.2529G>C (p.Met843Ile) c.2520G>C (p.Met840Ile) c.2496G>C (p.Met832Ile) c.2490G>C (p.Met830Ile) c.2463G>C (p.Met821Ile) c.2457G>C (p.Met819Ile) c.2451G>C (p.Met817Ile) c.2400G>C (p.Met800Ile) c.2493+143G>C (n.2493+143G>C) c.2319G>C (p.Met773Ile) c.2313G>C (p.Met771Ile) c.2445+143G>C (n.2445+143G>C) c.2241G>C (p.Met747Ile) c.2208+1394G>C (n.2208+1394G>C) c.1461G>C (p.Met487Ile) n.2737G>C | dbSNP |
17 | g.39725054G>T | CA399304081 | ERBB2 | c.2499G>T (p.Met833Ile) c.2409G>T (p.Met803Ile) c.1671G>T (p.Met557Ile) c.2454G>T (p.Met818Ile) c.*2289G>T (n.*2289G>T) c.605G>T n.3633G>T n.2823G>T c.2637G>T (p.Met879Ile) c.2592G>T (p.Met864Ile) c.2547G>T (p.Met849Ile) c.2616G>T (p.Met872Ile) c.2601G>T (p.Met867Ile) c.2580G>T (p.Met860Ile) c.2574G>T (p.Met858Ile) c.2529G>T (p.Met843Ile) c.2520G>T (p.Met840Ile) c.2496G>T (p.Met832Ile) c.2490G>T (p.Met830Ile) c.2463G>T (p.Met821Ile) c.2457G>T (p.Met819Ile) c.2451G>T (p.Met817Ile) c.2400G>T (p.Met800Ile) c.2493+143G>T (n.2493+143G>T) c.2319G>T (p.Met773Ile) c.2313G>T (p.Met771Ile) c.2445+143G>T (n.2445+143G>T) c.2241G>T (p.Met747Ile) c.2208+1394G>T (n.2208+1394G>T) c.1461G>T (p.Met487Ile) n.2737G>T | |
17 | g.39725055A>C | CA399304083 | ERBB2 | c.2500A>C (p.Ser834Arg) c.2410A>C (p.Ser804Arg) c.1672A>C (p.Ser558Arg) c.2455A>C (p.Ser819Arg) c.*2290A>C (n.*2290A>C) c.606A>C n.3634A>C n.2824A>C c.2638A>C (p.Ser880Arg) c.2593A>C (p.Ser865Arg) c.2548A>C (p.Ser850Arg) c.2617A>C (p.Ser873Arg) c.2602A>C (p.Ser868Arg) c.2581A>C (p.Ser861Arg) c.2575A>C (p.Ser859Arg) c.2530A>C (p.Ser844Arg) c.2521A>C (p.Ser841Arg) c.2497A>C (p.Ser833Arg) c.2491A>C (p.Ser831Arg) c.2464A>C (p.Ser822Arg) c.2458A>C (p.Ser820Arg) c.2452A>C (p.Ser818Arg) c.2401A>C (p.Ser801Arg) c.2493+144A>C (n.2493+144A>C) c.2320A>C (p.Ser774Arg) c.2314A>C (p.Ser772Arg) c.2445+144A>C (n.2445+144A>C) c.2242A>C (p.Ser748Arg) c.2208+1395A>C (n.2208+1395A>C) c.1462A>C (p.Ser488Arg) n.2738A>C | dbSNP |
17 | g.39725055A>G | CA399304084 | ERBB2 | c.2500A>G (p.Ser834Gly) c.2410A>G (p.Ser804Gly) c.1672A>G (p.Ser558Gly) c.2455A>G (p.Ser819Gly) c.*2290A>G (n.*2290A>G) c.606A>G n.3634A>G n.2824A>G c.2638A>G (p.Ser880Gly) c.2593A>G (p.Ser865Gly) c.2548A>G (p.Ser850Gly) c.2617A>G (p.Ser873Gly) c.2602A>G (p.Ser868Gly) c.2581A>G (p.Ser861Gly) c.2575A>G (p.Ser859Gly) c.2530A>G (p.Ser844Gly) c.2521A>G (p.Ser841Gly) c.2497A>G (p.Ser833Gly) c.2491A>G (p.Ser831Gly) c.2464A>G (p.Ser822Gly) c.2458A>G (p.Ser820Gly) c.2452A>G (p.Ser818Gly) c.2401A>G (p.Ser801Gly) c.2493+144A>G (n.2493+144A>G) c.2320A>G (p.Ser774Gly) c.2314A>G (p.Ser772Gly) c.2445+144A>G (n.2445+144A>G) c.2242A>G (p.Ser748Gly) c.2208+1395A>G (n.2208+1395A>G) c.1462A>G (p.Ser488Gly) n.2738A>G | dbSNP gnomAD v4 |
17 | g.39725055A>T | CA399304082 | ERBB2 | c.2500A>T (p.Ser834Cys) c.2410A>T (p.Ser804Cys) c.1672A>T (p.Ser558Cys) c.2455A>T (p.Ser819Cys) c.*2290A>T (n.*2290A>T) c.606A>T n.3634A>T n.2824A>T c.2638A>T (p.Ser880Cys) c.2593A>T (p.Ser865Cys) c.2548A>T (p.Ser850Cys) c.2617A>T (p.Ser873Cys) c.2602A>T (p.Ser868Cys) c.2581A>T (p.Ser861Cys) c.2575A>T (p.Ser859Cys) c.2530A>T (p.Ser844Cys) c.2521A>T (p.Ser841Cys) c.2497A>T (p.Ser833Cys) c.2491A>T (p.Ser831Cys) c.2464A>T (p.Ser822Cys) c.2458A>T (p.Ser820Cys) c.2452A>T (p.Ser818Cys) c.2401A>T (p.Ser801Cys) c.2493+144A>T (n.2493+144A>T) c.2320A>T (p.Ser774Cys) c.2314A>T (p.Ser772Cys) c.2445+144A>T (n.2445+144A>T) c.2242A>T (p.Ser748Cys) c.2208+1395A>T (n.2208+1395A>T) c.1462A>T (p.Ser488Cys) n.2738A>T | dbSNP |
17 | g.39725056G>A | CA399304085 | ERBB2 | c.2501G>A (p.Ser834Asn) c.2411G>A (p.Ser804Asn) c.1673G>A (p.Ser558Asn) c.2456G>A (p.Ser819Asn) c.*2291G>A (n.*2291G>A) c.607G>A n.3635G>A n.2825G>A c.2639G>A (p.Ser880Asn) c.2594G>A (p.Ser865Asn) c.2549G>A (p.Ser850Asn) c.2618G>A (p.Ser873Asn) c.2603G>A (p.Ser868Asn) c.2582G>A (p.Ser861Asn) c.2576G>A (p.Ser859Asn) c.2531G>A (p.Ser844Asn) c.2522G>A (p.Ser841Asn) c.2498G>A (p.Ser833Asn) c.2492G>A (p.Ser831Asn) c.2465G>A (p.Ser822Asn) c.2459G>A (p.Ser820Asn) c.2453G>A (p.Ser818Asn) c.2402G>A (p.Ser801Asn) c.2493+145G>A (n.2493+145G>A) c.2321G>A (p.Ser774Asn) c.2315G>A (p.Ser772Asn) c.2445+145G>A (n.2445+145G>A) c.2243G>A (p.Ser748Asn) c.2208+1396G>A (n.2208+1396G>A) c.1463G>A (p.Ser488Asn) n.2739G>A | dbSNP gnomAD v4 |
17 | g.39725056G>C | CA399304086 | ERBB2 | c.2501G>C (p.Ser834Thr) c.2411G>C (p.Ser804Thr) c.1673G>C (p.Ser558Thr) c.2456G>C (p.Ser819Thr) c.*2291G>C (n.*2291G>C) c.607G>C n.3635G>C n.2825G>C c.2639G>C (p.Ser880Thr) c.2594G>C (p.Ser865Thr) c.2549G>C (p.Ser850Thr) c.2618G>C (p.Ser873Thr) c.2603G>C (p.Ser868Thr) c.2582G>C (p.Ser861Thr) c.2576G>C (p.Ser859Thr) c.2531G>C (p.Ser844Thr) c.2522G>C (p.Ser841Thr) c.2498G>C (p.Ser833Thr) c.2492G>C (p.Ser831Thr) c.2465G>C (p.Ser822Thr) c.2459G>C (p.Ser820Thr) c.2453G>C (p.Ser818Thr) c.2402G>C (p.Ser801Thr) c.2493+145G>C (n.2493+145G>C) c.2321G>C (p.Ser774Thr) c.2315G>C (p.Ser772Thr) c.2445+145G>C (n.2445+145G>C) c.2243G>C (p.Ser748Thr) c.2208+1396G>C (n.2208+1396G>C) c.1463G>C (p.Ser488Thr) n.2739G>C | dbSNP |
17 | g.39725056G= | CA2259228119 | ERBB2 | c.2501G= (p.Ser834=) c.2411G= (p.Ser804=) c.1673G= (p.Ser558=) c.2456G= (p.Ser819=) c.*2291G= (n.*2291G=) c.607G= n.3635G= n.2825G= c.2639G= (p.Ser880=) c.2594G= (p.Ser865=) c.2549G= (p.Ser850=) c.2618G= (p.Ser873=) c.2603G= (p.Ser868=) c.2582G= (p.Ser861=) c.2576G= (p.Ser859=) c.2531G= (p.Ser844=) c.2522G= (p.Ser841=) c.2498G= (p.Ser833=) c.2492G= (p.Ser831=) c.2465G= (p.Ser822=) c.2459G= (p.Ser820=) c.2453G= (p.Ser818=) c.2402G= (p.Ser801=) c.2493+145G= (n.2493+145G=) c.2321G= (p.Ser774=) c.2315G= (p.Ser772=) c.2445+145G= (n.2445+145G=) c.2243G= (p.Ser748=) c.2208+1396G= (n.2208+1396G=) c.1463G= (p.Ser488=) n.2739G= | |
17 | g.39725056G>T | CA399304087 | ERBB2 | c.2501G>T (p.Ser834Ile) c.2411G>T (p.Ser804Ile) c.1673G>T (p.Ser558Ile) c.2456G>T (p.Ser819Ile) c.*2291G>T (n.*2291G>T) c.607G>T n.3635G>T n.2825G>T c.2639G>T (p.Ser880Ile) c.2594G>T (p.Ser865Ile) c.2549G>T (p.Ser850Ile) c.2618G>T (p.Ser873Ile) c.2603G>T (p.Ser868Ile) c.2582G>T (p.Ser861Ile) c.2576G>T (p.Ser859Ile) c.2531G>T (p.Ser844Ile) c.2522G>T (p.Ser841Ile) c.2498G>T (p.Ser833Ile) c.2492G>T (p.Ser831Ile) c.2465G>T (p.Ser822Ile) c.2459G>T (p.Ser820Ile) c.2453G>T (p.Ser818Ile) c.2402G>T (p.Ser801Ile) c.2493+145G>T (n.2493+145G>T) c.2321G>T (p.Ser774Ile) c.2315G>T (p.Ser772Ile) c.2445+145G>T (n.2445+145G>T) c.2243G>T (p.Ser748Ile) c.2208+1396G>T (n.2208+1396G>T) c.1463G>T (p.Ser488Ile) n.2739G>T | dbSNP |
17 | g.39725057C>A | CA399304088 | ERBB2 | c.2502C>A (p.Ser834Arg) c.2412C>A (p.Ser804Arg) c.1674C>A (p.Ser558Arg) c.2457C>A (p.Ser819Arg) c.*2292C>A (n.*2292C>A) c.608C>A n.3636C>A n.2826C>A c.2640C>A (p.Ser880Arg) c.2595C>A (p.Ser865Arg) c.2550C>A (p.Ser850Arg) c.2619C>A (p.Ser873Arg) c.2604C>A (p.Ser868Arg) c.2583C>A (p.Ser861Arg) c.2577C>A (p.Ser859Arg) c.2532C>A (p.Ser844Arg) c.2523C>A (p.Ser841Arg) c.2499C>A (p.Ser833Arg) c.2493C>A (p.Ser831Arg) c.2466C>A (p.Ser822Arg) c.2460C>A (p.Ser820Arg) c.2454C>A (p.Ser818Arg) c.2403C>A (p.Ser801Arg) c.2493+146C>A (n.2493+146C>A) c.2322C>A (p.Ser774Arg) c.2316C>A (p.Ser772Arg) c.2445+146C>A (n.2445+146C>A) c.2244C>A (p.Ser748Arg) c.2208+1397C>A (n.2208+1397C>A) c.1464C>A (p.Ser488Arg) n.2740C>A | dbSNP |
17 | g.39725057C= | CA2259228120 | ERBB2 | c.2502C= (p.Ser834=) c.2412C= (p.Ser804=) c.1674C= (p.Ser558=) c.2457C= (p.Ser819=) c.*2292C= (n.*2292C=) c.608C= n.3636C= n.2826C= c.2640C= (p.Ser880=) c.2595C= (p.Ser865=) c.2550C= (p.Ser850=) c.2619C= (p.Ser873=) c.2604C= (p.Ser868=) c.2583C= (p.Ser861=) c.2577C= (p.Ser859=) c.2532C= (p.Ser844=) c.2523C= (p.Ser841=) c.2499C= (p.Ser833=) c.2493C= (p.Ser831=) c.2466C= (p.Ser822=) c.2460C= (p.Ser820=) c.2454C= (p.Ser818=) c.2403C= (p.Ser801=) c.2493+146C= (n.2493+146C=) c.2322C= (p.Ser774=) c.2316C= (p.Ser772=) c.2445+146C= (n.2445+146C=) c.2244C= (p.Ser748=) c.2208+1397C= (n.2208+1397C=) c.1464C= (p.Ser488=) n.2740C= | |
17 | g.39725057C>G | CA399304089 | ERBB2 | c.2502C>G (p.Ser834Arg) c.2412C>G (p.Ser804Arg) c.1674C>G (p.Ser558Arg) c.2457C>G (p.Ser819Arg) c.*2292C>G (n.*2292C>G) c.608C>G n.3636C>G n.2826C>G c.2640C>G (p.Ser880Arg) c.2595C>G (p.Ser865Arg) c.2550C>G (p.Ser850Arg) c.2619C>G (p.Ser873Arg) c.2604C>G (p.Ser868Arg) c.2583C>G (p.Ser861Arg) c.2577C>G (p.Ser859Arg) c.2532C>G (p.Ser844Arg) c.2523C>G (p.Ser841Arg) c.2499C>G (p.Ser833Arg) c.2493C>G (p.Ser831Arg) c.2466C>G (p.Ser822Arg) c.2460C>G (p.Ser820Arg) c.2454C>G (p.Ser818Arg) c.2403C>G (p.Ser801Arg) c.2493+146C>G (n.2493+146C>G) c.2322C>G (p.Ser774Arg) c.2316C>G (p.Ser772Arg) c.2445+146C>G (n.2445+146C>G) c.2244C>G (p.Ser748Arg) c.2208+1397C>G (n.2208+1397C>G) c.1464C>G (p.Ser488Arg) n.2740C>G | dbSNP |
17 | g.39725057C>T | CA499890072 | ERBB2 | c.2502C>T (p.Ser834=) c.2412C>T (p.Ser804=) c.1674C>T (p.Ser558=) c.2457C>T (p.Ser819=) c.*2292C>T (n.*2292C>T) c.608C>T n.3636C>T n.2826C>T c.2640C>T (p.Ser880=) c.2595C>T (p.Ser865=) c.2550C>T (p.Ser850=) c.2619C>T (p.Ser873=) c.2604C>T (p.Ser868=) c.2583C>T (p.Ser861=) c.2577C>T (p.Ser859=) c.2532C>T (p.Ser844=) c.2523C>T (p.Ser841=) c.2499C>T (p.Ser833=) c.2493C>T (p.Ser831=) c.2466C>T (p.Ser822=) c.2460C>T (p.Ser820=) c.2454C>T (p.Ser818=) c.2403C>T (p.Ser801=) c.2493+146C>T (n.2493+146C>T) c.2322C>T (p.Ser774=) c.2316C>T (p.Ser772=) c.2445+146C>T (n.2445+146C>T) c.2244C>T (p.Ser748=) c.2208+1397C>T (n.2208+1397C>T) c.1464C>T (p.Ser488=) n.2740C>T | dbSNP COSMIC |
17 | g.39725058T>A | CA399304092 | ERBB2 | c.2503T>A (p.Tyr835Asn) c.2413T>A (p.Tyr805Asn) c.1675T>A (p.Tyr559Asn) c.2458T>A (p.Tyr820Asn) c.*2293T>A (n.*2293T>A) c.609T>A n.3637T>A n.2827T>A c.2641T>A (p.Tyr881Asn) c.2596T>A (p.Tyr866Asn) c.2551T>A (p.Tyr851Asn) c.2620T>A (p.Tyr874Asn) c.2605T>A (p.Tyr869Asn) c.2584T>A (p.Tyr862Asn) c.2578T>A (p.Tyr860Asn) c.2533T>A (p.Tyr845Asn) c.2524T>A (p.Tyr842Asn) c.2500T>A (p.Tyr834Asn) c.2494T>A (p.Tyr832Asn) c.2467T>A (p.Tyr823Asn) c.2461T>A (p.Tyr821Asn) c.2455T>A (p.Tyr819Asn) c.2404T>A (p.Tyr802Asn) c.2493+147T>A (n.2493+147T>A) c.2323T>A (p.Tyr775Asn) c.2317T>A (p.Tyr773Asn) c.2445+147T>A (n.2445+147T>A) c.2245T>A (p.Tyr749Asn) c.2208+1398T>A (n.2208+1398T>A) c.1465T>A (p.Tyr489Asn) n.2741T>A | dbSNP |
17 | g.39725058T>C | CA399304090 | ERBB2 | c.2503T>C (p.Tyr835His) c.2413T>C (p.Tyr805His) c.1675T>C (p.Tyr559His) c.2458T>C (p.Tyr820His) c.*2293T>C (n.*2293T>C) c.609T>C n.3637T>C n.2827T>C c.2641T>C (p.Tyr881His) c.2596T>C (p.Tyr866His) c.2551T>C (p.Tyr851His) c.2620T>C (p.Tyr874His) c.2605T>C (p.Tyr869His) c.2584T>C (p.Tyr862His) c.2578T>C (p.Tyr860His) c.2533T>C (p.Tyr845His) c.2524T>C (p.Tyr842His) c.2500T>C (p.Tyr834His) c.2494T>C (p.Tyr832His) c.2467T>C (p.Tyr823His) c.2461T>C (p.Tyr821His) c.2455T>C (p.Tyr819His) c.2404T>C (p.Tyr802His) c.2493+147T>C (n.2493+147T>C) c.2323T>C (p.Tyr775His) c.2317T>C (p.Tyr773His) c.2445+147T>C (n.2445+147T>C) c.2245T>C (p.Tyr749His) c.2208+1398T>C (n.2208+1398T>C) c.1465T>C (p.Tyr489His) n.2741T>C | |
17 | g.39725058T>G | CA399304091 | ERBB2 | c.2503T>G (p.Tyr835Asp) c.2413T>G (p.Tyr805Asp) c.1675T>G (p.Tyr559Asp) c.2458T>G (p.Tyr820Asp) c.*2293T>G (n.*2293T>G) c.609T>G n.3637T>G n.2827T>G c.2641T>G (p.Tyr881Asp) c.2596T>G (p.Tyr866Asp) c.2551T>G (p.Tyr851Asp) c.2620T>G (p.Tyr874Asp) c.2605T>G (p.Tyr869Asp) c.2584T>G (p.Tyr862Asp) c.2578T>G (p.Tyr860Asp) c.2533T>G (p.Tyr845Asp) c.2524T>G (p.Tyr842Asp) c.2500T>G (p.Tyr834Asp) c.2494T>G (p.Tyr832Asp) c.2467T>G (p.Tyr823Asp) c.2461T>G (p.Tyr821Asp) c.2455T>G (p.Tyr819Asp) c.2404T>G (p.Tyr802Asp) c.2493+147T>G (n.2493+147T>G) c.2323T>G (p.Tyr775Asp) c.2317T>G (p.Tyr773Asp) c.2445+147T>G (n.2445+147T>G) c.2245T>G (p.Tyr749Asp) c.2208+1398T>G (n.2208+1398T>G) c.1465T>G (p.Tyr489Asp) n.2741T>G | |
17 | g.39725059A>C | CA399304093 | ERBB2 | c.2504A>C (p.Tyr835Ser) c.2414A>C (p.Tyr805Ser) c.1676A>C (p.Tyr559Ser) c.2459A>C (p.Tyr820Ser) c.*2294A>C (n.*2294A>C) c.610A>C n.3638A>C n.2828A>C c.2642A>C (p.Tyr881Ser) c.2597A>C (p.Tyr866Ser) c.2552A>C (p.Tyr851Ser) c.2621A>C (p.Tyr874Ser) c.2606A>C (p.Tyr869Ser) c.2585A>C (p.Tyr862Ser) c.2579A>C (p.Tyr860Ser) c.2534A>C (p.Tyr845Ser) c.2525A>C (p.Tyr842Ser) c.2501A>C (p.Tyr834Ser) c.2495A>C (p.Tyr832Ser) c.2468A>C (p.Tyr823Ser) c.2462A>C (p.Tyr821Ser) c.2456A>C (p.Tyr819Ser) c.2405A>C (p.Tyr802Ser) c.2493+148A>C (n.2493+148A>C) c.2324A>C (p.Tyr775Ser) c.2318A>C (p.Tyr773Ser) c.2445+148A>C (n.2445+148A>C) c.2246A>C (p.Tyr749Ser) c.2208+1399A>C (n.2208+1399A>C) c.1466A>C (p.Tyr489Ser) n.2742A>C | dbSNP |
17 | g.39725059A>G | CA399304094 | ERBB2 | c.2504A>G (p.Tyr835Cys) c.2414A>G (p.Tyr805Cys) c.1676A>G (p.Tyr559Cys) c.2459A>G (p.Tyr820Cys) c.*2294A>G (n.*2294A>G) c.610A>G n.3638A>G n.2828A>G c.2642A>G (p.Tyr881Cys) c.2597A>G (p.Tyr866Cys) c.2552A>G (p.Tyr851Cys) c.2621A>G (p.Tyr874Cys) c.2606A>G (p.Tyr869Cys) c.2585A>G (p.Tyr862Cys) c.2579A>G (p.Tyr860Cys) c.2534A>G (p.Tyr845Cys) c.2525A>G (p.Tyr842Cys) c.2501A>G (p.Tyr834Cys) c.2495A>G (p.Tyr832Cys) c.2468A>G (p.Tyr823Cys) c.2462A>G (p.Tyr821Cys) c.2456A>G (p.Tyr819Cys) c.2405A>G (p.Tyr802Cys) c.2493+148A>G (n.2493+148A>G) c.2324A>G (p.Tyr775Cys) c.2318A>G (p.Tyr773Cys) c.2445+148A>G (n.2445+148A>G) c.2246A>G (p.Tyr749Cys) c.2208+1399A>G (n.2208+1399A>G) c.1466A>G (p.Tyr489Cys) n.2742A>G | dbSNP gnomAD v4 |
17 | g.39725059A>T | CA399304095 | ERBB2 | c.2504A>T (p.Tyr835Phe) c.2414A>T (p.Tyr805Phe) c.1676A>T (p.Tyr559Phe) c.2459A>T (p.Tyr820Phe) c.*2294A>T (n.*2294A>T) c.610A>T n.3638A>T n.2828A>T c.2642A>T (p.Tyr881Phe) c.2597A>T (p.Tyr866Phe) c.2552A>T (p.Tyr851Phe) c.2621A>T (p.Tyr874Phe) c.2606A>T (p.Tyr869Phe) c.2585A>T (p.Tyr862Phe) c.2579A>T (p.Tyr860Phe) c.2534A>T (p.Tyr845Phe) c.2525A>T (p.Tyr842Phe) c.2501A>T (p.Tyr834Phe) c.2495A>T (p.Tyr832Phe) c.2468A>T (p.Tyr823Phe) c.2462A>T (p.Tyr821Phe) c.2456A>T (p.Tyr819Phe) c.2405A>T (p.Tyr802Phe) c.2493+148A>T (n.2493+148A>T) c.2324A>T (p.Tyr775Phe) c.2318A>T (p.Tyr773Phe) c.2445+148A>T (n.2445+148A>T) c.2246A>T (p.Tyr749Phe) c.2208+1399A>T (n.2208+1399A>T) c.1466A>T (p.Tyr489Phe) n.2742A>T | dbSNP COSMIC |
17 | g.39725060C>A | CA399304099 | ERBB2 | c.2505C>A (p.Tyr835Ter) c.2415C>A (p.Tyr805Ter) c.1677C>A (p.Tyr559Ter) c.2460C>A (p.Tyr820Ter) c.*2295C>A (n.*2295C>A) c.611C>A n.3639C>A n.2829C>A c.2643C>A (p.Tyr881Ter) c.2598C>A (p.Tyr866Ter) c.2553C>A (p.Tyr851Ter) c.2622C>A (p.Tyr874Ter) c.2607C>A (p.Tyr869Ter) c.2586C>A (p.Tyr862Ter) c.2580C>A (p.Tyr860Ter) c.2535C>A (p.Tyr845Ter) c.2526C>A (p.Tyr842Ter) c.2502C>A (p.Tyr834Ter) c.2496C>A (p.Tyr832Ter) c.2469C>A (p.Tyr823Ter) c.2463C>A (p.Tyr821Ter) c.2457C>A (p.Tyr819Ter) c.2406C>A (p.Tyr802Ter) c.2493+149C>A (n.2493+149C>A) c.2325C>A (p.Tyr775Ter) c.2319C>A (p.Tyr773Ter) c.2445+149C>A (n.2445+149C>A) c.2247C>A (p.Tyr749Ter) c.2208+1400C>A (n.2208+1400C>A) c.1467C>A (p.Tyr489Ter) n.2743C>A | |
17 | g.39725060C>G | CA399304103 | ERBB2 | c.2505C>G (p.Tyr835Ter) c.2415C>G (p.Tyr805Ter) c.1677C>G (p.Tyr559Ter) c.2460C>G (p.Tyr820Ter) c.*2295C>G (n.*2295C>G) c.611C>G n.3639C>G n.2829C>G c.2643C>G (p.Tyr881Ter) c.2598C>G (p.Tyr866Ter) c.2553C>G (p.Tyr851Ter) c.2622C>G (p.Tyr874Ter) c.2607C>G (p.Tyr869Ter) c.2586C>G (p.Tyr862Ter) c.2580C>G (p.Tyr860Ter) c.2535C>G (p.Tyr845Ter) c.2526C>G (p.Tyr842Ter) c.2502C>G (p.Tyr834Ter) c.2496C>G (p.Tyr832Ter) c.2469C>G (p.Tyr823Ter) c.2463C>G (p.Tyr821Ter) c.2457C>G (p.Tyr819Ter) c.2406C>G (p.Tyr802Ter) c.2493+149C>G (n.2493+149C>G) c.2325C>G (p.Tyr775Ter) c.2319C>G (p.Tyr773Ter) c.2445+149C>G (n.2445+149C>G) c.2247C>G (p.Tyr749Ter) c.2208+1400C>G (n.2208+1400C>G) c.1467C>G (p.Tyr489Ter) n.2743C>G | dbSNP |
17 | g.39725060C>T | CA499890073 | ERBB2 | c.2505C>T (p.Tyr835=) c.2415C>T (p.Tyr805=) c.1677C>T (p.Tyr559=) c.2460C>T (p.Tyr820=) c.*2295C>T (n.*2295C>T) c.611C>T n.3639C>T n.2829C>T c.2643C>T (p.Tyr881=) c.2598C>T (p.Tyr866=) c.2553C>T (p.Tyr851=) c.2622C>T (p.Tyr874=) c.2607C>T (p.Tyr869=) c.2586C>T (p.Tyr862=) c.2580C>T (p.Tyr860=) c.2535C>T (p.Tyr845=) c.2526C>T (p.Tyr842=) c.2502C>T (p.Tyr834=) c.2496C>T (p.Tyr832=) c.2469C>T (p.Tyr823=) c.2463C>T (p.Tyr821=) c.2457C>T (p.Tyr819=) c.2406C>T (p.Tyr802=) c.2493+149C>T (n.2493+149C>T) c.2325C>T (p.Tyr775=) c.2319C>T (p.Tyr773=) c.2445+149C>T (n.2445+149C>T) c.2247C>T (p.Tyr749=) c.2208+1400C>T (n.2208+1400C>T) c.1467C>T (p.Tyr489=) n.2743C>T | dbSNP gnomAD v4 |
17 | g.39725061C>A | CA399304114 | ERBB2 | c.2506C>A (p.Leu836Met) c.2416C>A (p.Leu806Met) c.1678C>A (p.Leu560Met) c.2461C>A (p.Leu821Met) c.*2296C>A (n.*2296C>A) c.612C>A n.3640C>A n.2830C>A c.2644C>A (p.Leu882Met) c.2599C>A (p.Leu867Met) c.2554C>A (p.Leu852Met) c.2623C>A (p.Leu875Met) c.2608C>A (p.Leu870Met) c.2587C>A (p.Leu863Met) c.2581C>A (p.Leu861Met) c.2536C>A (p.Leu846Met) c.2527C>A (p.Leu843Met) c.2503C>A (p.Leu835Met) c.2497C>A (p.Leu833Met) c.2470C>A (p.Leu824Met) c.2464C>A (p.Leu822Met) c.2458C>A (p.Leu820Met) c.2407C>A (p.Leu803Met) c.2493+150C>A (n.2493+150C>A) c.2326C>A (p.Leu776Met) c.2320C>A (p.Leu774Met) c.2445+150C>A (n.2445+150C>A) c.2248C>A (p.Leu750Met) c.2208+1401C>A (n.2208+1401C>A) c.1468C>A (p.Leu490Met) n.2744C>A | dbSNP |
17 | g.39725061C= | CA2259228121 | ERBB2 | c.2506C= (p.Leu836=) c.2416C= (p.Leu806=) c.1678C= (p.Leu560=) c.2461C= (p.Leu821=) c.*2296C= (n.*2296C=) c.612C= n.3640C= n.2830C= c.2644C= (p.Leu882=) c.2599C= (p.Leu867=) c.2554C= (p.Leu852=) c.2623C= (p.Leu875=) c.2608C= (p.Leu870=) c.2587C= (p.Leu863=) c.2581C= (p.Leu861=) c.2536C= (p.Leu846=) c.2527C= (p.Leu843=) c.2503C= (p.Leu835=) c.2497C= (p.Leu833=) c.2470C= (p.Leu824=) c.2464C= (p.Leu822=) c.2458C= (p.Leu820=) c.2407C= (p.Leu803=) c.2493+150C= (n.2493+150C=) c.2326C= (p.Leu776=) c.2320C= (p.Leu774=) c.2445+150C= (n.2445+150C=) c.2248C= (p.Leu750=) c.2208+1401C= (n.2208+1401C=) c.1468C= (p.Leu490=) n.2744C= | |
17 | g.39725061C>G | CA399304112 | ERBB2 | c.2506C>G (p.Leu836Val) c.2416C>G (p.Leu806Val) c.1678C>G (p.Leu560Val) c.2461C>G (p.Leu821Val) c.*2296C>G (n.*2296C>G) c.612C>G n.3640C>G n.2830C>G c.2644C>G (p.Leu882Val) c.2599C>G (p.Leu867Val) c.2554C>G (p.Leu852Val) c.2623C>G (p.Leu875Val) c.2608C>G (p.Leu870Val) c.2587C>G (p.Leu863Val) c.2581C>G (p.Leu861Val) c.2536C>G (p.Leu846Val) c.2527C>G (p.Leu843Val) c.2503C>G (p.Leu835Val) c.2497C>G (p.Leu833Val) c.2470C>G (p.Leu824Val) c.2464C>G (p.Leu822Val) c.2458C>G (p.Leu820Val) c.2407C>G (p.Leu803Val) c.2493+150C>G (n.2493+150C>G) c.2326C>G (p.Leu776Val) c.2320C>G (p.Leu774Val) c.2445+150C>G (n.2445+150C>G) c.2248C>G (p.Leu750Val) c.2208+1401C>G (n.2208+1401C>G) c.1468C>G (p.Leu490Val) n.2744C>G | dbSNP |
17 | g.39725061C>T | CA156262 | ERBB2 | c.2506C>T (p.Leu836=) c.2416C>T (p.Leu806=) c.1678C>T (p.Leu560=) c.2461C>T (p.Leu821=) c.*2296C>T (n.*2296C>T) c.612C>T n.3640C>T n.2830C>T c.2644C>T (p.Leu882=) c.2599C>T (p.Leu867=) c.2554C>T (p.Leu852=) c.2623C>T (p.Leu875=) c.2608C>T (p.Leu870=) c.2587C>T (p.Leu863=) c.2581C>T (p.Leu861=) c.2536C>T (p.Leu846=) c.2527C>T (p.Leu843=) c.2503C>T (p.Leu835=) c.2497C>T (p.Leu833=) c.2470C>T (p.Leu824=) c.2464C>T (p.Leu822=) c.2458C>T (p.Leu820=) c.2407C>T (p.Leu803=) c.2493+150C>T (n.2493+150C>T) c.2326C>T (p.Leu776=) c.2320C>T (p.Leu774=) c.2445+150C>T (n.2445+150C>T) c.2248C>T (p.Leu750=) c.2208+1401C>T (n.2208+1401C>T) c.1468C>T (p.Leu490=) n.2744C>T | ClinVar dbSNP gnomAD v4 |
17 | g.39725062T>A | CA399304118 | ERBB2 | c.2507T>A (p.Leu836Gln) c.2417T>A (p.Leu806Gln) c.1679T>A (p.Leu560Gln) c.2462T>A (p.Leu821Gln) c.*2297T>A (n.*2297T>A) c.613T>A n.3641T>A n.2831T>A c.2645T>A (p.Leu882Gln) c.2600T>A (p.Leu867Gln) c.2555T>A (p.Leu852Gln) c.2624T>A (p.Leu875Gln) c.2609T>A (p.Leu870Gln) c.2588T>A (p.Leu863Gln) c.2582T>A (p.Leu861Gln) c.2537T>A (p.Leu846Gln) c.2528T>A (p.Leu843Gln) c.2504T>A (p.Leu835Gln) c.2498T>A (p.Leu833Gln) c.2471T>A (p.Leu824Gln) c.2465T>A (p.Leu822Gln) c.2459T>A (p.Leu820Gln) c.2408T>A (p.Leu803Gln) c.2493+151T>A (n.2493+151T>A) c.2327T>A (p.Leu776Gln) c.2321T>A (p.Leu774Gln) c.2445+151T>A (n.2445+151T>A) c.2249T>A (p.Leu750Gln) c.2208+1402T>A (n.2208+1402T>A) c.1469T>A (p.Leu490Gln) n.2745T>A | dbSNP |
17 | g.39725062T>C | CA399304127 | ERBB2 | c.2507T>C (p.Leu836Pro) c.2417T>C (p.Leu806Pro) c.1679T>C (p.Leu560Pro) c.2462T>C (p.Leu821Pro) c.*2297T>C (n.*2297T>C) c.613T>C n.3641T>C n.2831T>C c.2645T>C (p.Leu882Pro) c.2600T>C (p.Leu867Pro) c.2555T>C (p.Leu852Pro) c.2624T>C (p.Leu875Pro) c.2609T>C (p.Leu870Pro) c.2588T>C (p.Leu863Pro) c.2582T>C (p.Leu861Pro) c.2537T>C (p.Leu846Pro) c.2528T>C (p.Leu843Pro) c.2504T>C (p.Leu835Pro) c.2498T>C (p.Leu833Pro) c.2471T>C (p.Leu824Pro) c.2465T>C (p.Leu822Pro) c.2459T>C (p.Leu820Pro) c.2408T>C (p.Leu803Pro) c.2493+151T>C (n.2493+151T>C) c.2327T>C (p.Leu776Pro) c.2321T>C (p.Leu774Pro) c.2445+151T>C (n.2445+151T>C) c.2249T>C (p.Leu750Pro) c.2208+1402T>C (n.2208+1402T>C) c.1469T>C (p.Leu490Pro) n.2745T>C | |
17 | g.39725062T>G | CA399304123 | ERBB2 | c.2507T>G (p.Leu836Arg) c.2417T>G (p.Leu806Arg) c.1679T>G (p.Leu560Arg) c.2462T>G (p.Leu821Arg) c.*2297T>G (n.*2297T>G) c.613T>G n.3641T>G n.2831T>G c.2645T>G (p.Leu882Arg) c.2600T>G (p.Leu867Arg) c.2555T>G (p.Leu852Arg) c.2624T>G (p.Leu875Arg) c.2609T>G (p.Leu870Arg) c.2588T>G (p.Leu863Arg) c.2582T>G (p.Leu861Arg) c.2537T>G (p.Leu846Arg) c.2528T>G (p.Leu843Arg) c.2504T>G (p.Leu835Arg) c.2498T>G (p.Leu833Arg) c.2471T>G (p.Leu824Arg) c.2465T>G (p.Leu822Arg) c.2459T>G (p.Leu820Arg) c.2408T>G (p.Leu803Arg) c.2493+151T>G (n.2493+151T>G) c.2327T>G (p.Leu776Arg) c.2321T>G (p.Leu774Arg) c.2445+151T>G (n.2445+151T>G) c.2249T>G (p.Leu750Arg) c.2208+1402T>G (n.2208+1402T>G) c.1469T>G (p.Leu490Arg) n.2745T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39725062T= | CA2259228122 | ERBB2 | c.2507T= (p.Leu836=) c.2417T= (p.Leu806=) c.1679T= (p.Leu560=) c.2462T= (p.Leu821=) c.*2297T= (n.*2297T=) c.613T= n.3641T= n.2831T= c.2645T= (p.Leu882=) c.2600T= (p.Leu867=) c.2555T= (p.Leu852=) c.2624T= (p.Leu875=) c.2609T= (p.Leu870=) c.2588T= (p.Leu863=) c.2582T= (p.Leu861=) c.2537T= (p.Leu846=) c.2528T= (p.Leu843=) c.2504T= (p.Leu835=) c.2498T= (p.Leu833=) c.2471T= (p.Leu824=) c.2465T= (p.Leu822=) c.2459T= (p.Leu820=) c.2408T= (p.Leu803=) c.2493+151T= (n.2493+151T=) c.2327T= (p.Leu776=) c.2321T= (p.Leu774=) c.2445+151T= (n.2445+151T=) c.2249T= (p.Leu750=) c.2208+1402T= (n.2208+1402T=) c.1469T= (p.Leu490=) n.2745T= | |
17 | g.39725063G>A | CA8534321 | ERBB2 | c.2508G>A (p.Leu836=) c.2418G>A (p.Leu806=) c.1680G>A (p.Leu560=) c.2463G>A (p.Leu821=) c.*2298G>A (n.*2298G>A) c.614G>A n.3642G>A n.2832G>A c.2646G>A (p.Leu882=) c.2601G>A (p.Leu867=) c.2556G>A (p.Leu852=) c.2625G>A (p.Leu875=) c.2610G>A (p.Leu870=) c.2589G>A (p.Leu863=) c.2583G>A (p.Leu861=) c.2538G>A (p.Leu846=) c.2529G>A (p.Leu843=) c.2505G>A (p.Leu835=) c.2499G>A (p.Leu833=) c.2472G>A (p.Leu824=) c.2466G>A (p.Leu822=) c.2460G>A (p.Leu820=) c.2409G>A (p.Leu803=) c.2493+152G>A (n.2493+152G>A) c.2328G>A (p.Leu776=) c.2322G>A (p.Leu774=) c.2445+152G>A (n.2445+152G>A) c.2250G>A (p.Leu750=) c.2208+1403G>A (n.2208+1403G>A) c.1470G>A (p.Leu490=) n.2746G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725063G>C | CA499890081 | ERBB2 | c.2508G>C (p.Leu836=) c.2418G>C (p.Leu806=) c.1680G>C (p.Leu560=) c.2463G>C (p.Leu821=) c.*2298G>C (n.*2298G>C) c.614G>C n.3642G>C n.2832G>C c.2646G>C (p.Leu882=) c.2601G>C (p.Leu867=) c.2556G>C (p.Leu852=) c.2625G>C (p.Leu875=) c.2610G>C (p.Leu870=) c.2589G>C (p.Leu863=) c.2583G>C (p.Leu861=) c.2538G>C (p.Leu846=) c.2529G>C (p.Leu843=) c.2505G>C (p.Leu835=) c.2499G>C (p.Leu833=) c.2472G>C (p.Leu824=) c.2466G>C (p.Leu822=) c.2460G>C (p.Leu820=) c.2409G>C (p.Leu803=) c.2493+152G>C (n.2493+152G>C) c.2328G>C (p.Leu776=) c.2322G>C (p.Leu774=) c.2445+152G>C (n.2445+152G>C) c.2250G>C (p.Leu750=) c.2208+1403G>C (n.2208+1403G>C) c.1470G>C (p.Leu490=) n.2746G>C | dbSNP |
17 | g.39725063G= | CA2259228123 | ERBB2 | c.2508G= (p.Leu836=) c.2418G= (p.Leu806=) c.1680G= (p.Leu560=) c.2463G= (p.Leu821=) c.*2298G= (n.*2298G=) c.614G= n.3642G= n.2832G= c.2646G= (p.Leu882=) c.2601G= (p.Leu867=) c.2556G= (p.Leu852=) c.2625G= (p.Leu875=) c.2610G= (p.Leu870=) c.2589G= (p.Leu863=) c.2583G= (p.Leu861=) c.2538G= (p.Leu846=) c.2529G= (p.Leu843=) c.2505G= (p.Leu835=) c.2499G= (p.Leu833=) c.2472G= (p.Leu824=) c.2466G= (p.Leu822=) c.2460G= (p.Leu820=) c.2409G= (p.Leu803=) c.2493+152G= (n.2493+152G=) c.2328G= (p.Leu776=) c.2322G= (p.Leu774=) c.2445+152G= (n.2445+152G=) c.2250G= (p.Leu750=) c.2208+1403G= (n.2208+1403G=) c.1470G= (p.Leu490=) n.2746G= | |
17 | g.39725063G>T | CA499890082 | ERBB2 | c.2508G>T (p.Leu836=) c.2418G>T (p.Leu806=) c.1680G>T (p.Leu560=) c.2463G>T (p.Leu821=) c.*2298G>T (n.*2298G>T) c.614G>T n.3642G>T n.2832G>T c.2646G>T (p.Leu882=) c.2601G>T (p.Leu867=) c.2556G>T (p.Leu852=) c.2625G>T (p.Leu875=) c.2610G>T (p.Leu870=) c.2589G>T (p.Leu863=) c.2583G>T (p.Leu861=) c.2538G>T (p.Leu846=) c.2529G>T (p.Leu843=) c.2505G>T (p.Leu835=) c.2499G>T (p.Leu833=) c.2472G>T (p.Leu824=) c.2466G>T (p.Leu822=) c.2460G>T (p.Leu820=) c.2409G>T (p.Leu803=) c.2493+152G>T (n.2493+152G>T) c.2328G>T (p.Leu776=) c.2322G>T (p.Leu774=) c.2445+152G>T (n.2445+152G>T) c.2250G>T (p.Leu750=) c.2208+1403G>T (n.2208+1403G>T) c.1470G>T (p.Leu490=) n.2746G>T | |
17 | g.39725064G>A | CA399304138 | ERBB2 | c.2509G>A (p.Glu837Lys) c.2419G>A (p.Glu807Lys) c.1681G>A (p.Glu561Lys) c.2464G>A (p.Glu822Lys) c.*2299G>A (n.*2299G>A) c.615G>A n.3643G>A n.2833G>A c.2647G>A (p.Glu883Lys) c.2602G>A (p.Glu868Lys) c.2557G>A (p.Glu853Lys) c.2626G>A (p.Glu876Lys) c.2611G>A (p.Glu871Lys) c.2590G>A (p.Glu864Lys) c.2584G>A (p.Glu862Lys) c.2539G>A (p.Glu847Lys) c.2530G>A (p.Glu844Lys) c.2506G>A (p.Glu836Lys) c.2500G>A (p.Glu834Lys) c.2473G>A (p.Glu825Lys) c.2467G>A (p.Glu823Lys) c.2461G>A (p.Glu821Lys) c.2410G>A (p.Glu804Lys) c.2493+153G>A (n.2493+153G>A) c.2329G>A (p.Glu777Lys) c.2323G>A (p.Glu775Lys) c.2445+153G>A (n.2445+153G>A) c.2251G>A (p.Glu751Lys) c.2208+1404G>A (n.2208+1404G>A) c.1471G>A (p.Glu491Lys) n.2747G>A | dbSNP |
17 | g.39725064G>C | CA399304133 | ERBB2 | c.2509G>C (p.Glu837Gln) c.2419G>C (p.Glu807Gln) c.1681G>C (p.Glu561Gln) c.2464G>C (p.Glu822Gln) c.*2299G>C (n.*2299G>C) c.615G>C n.3643G>C n.2833G>C c.2647G>C (p.Glu883Gln) c.2602G>C (p.Glu868Gln) c.2557G>C (p.Glu853Gln) c.2626G>C (p.Glu876Gln) c.2611G>C (p.Glu871Gln) c.2590G>C (p.Glu864Gln) c.2584G>C (p.Glu862Gln) c.2539G>C (p.Glu847Gln) c.2530G>C (p.Glu844Gln) c.2506G>C (p.Glu836Gln) c.2500G>C (p.Glu834Gln) c.2473G>C (p.Glu825Gln) c.2467G>C (p.Glu823Gln) c.2461G>C (p.Glu821Gln) c.2410G>C (p.Glu804Gln) c.2493+153G>C (n.2493+153G>C) c.2329G>C (p.Glu777Gln) c.2323G>C (p.Glu775Gln) c.2445+153G>C (n.2445+153G>C) c.2251G>C (p.Glu751Gln) c.2208+1404G>C (n.2208+1404G>C) c.1471G>C (p.Glu491Gln) n.2747G>C | dbSNP |
17 | g.39725064G>T | CA399304134 | ERBB2 | c.2509G>T (p.Glu837Ter) c.2419G>T (p.Glu807Ter) c.1681G>T (p.Glu561Ter) c.2464G>T (p.Glu822Ter) c.*2299G>T (n.*2299G>T) c.615G>T n.3643G>T n.2833G>T c.2647G>T (p.Glu883Ter) c.2602G>T (p.Glu868Ter) c.2557G>T (p.Glu853Ter) c.2626G>T (p.Glu876Ter) c.2611G>T (p.Glu871Ter) c.2590G>T (p.Glu864Ter) c.2584G>T (p.Glu862Ter) c.2539G>T (p.Glu847Ter) c.2530G>T (p.Glu844Ter) c.2506G>T (p.Glu836Ter) c.2500G>T (p.Glu834Ter) c.2473G>T (p.Glu825Ter) c.2467G>T (p.Glu823Ter) c.2461G>T (p.Glu821Ter) c.2410G>T (p.Glu804Ter) c.2493+153G>T (n.2493+153G>T) c.2329G>T (p.Glu777Ter) c.2323G>T (p.Glu775Ter) c.2445+153G>T (n.2445+153G>T) c.2251G>T (p.Glu751Ter) c.2208+1404G>T (n.2208+1404G>T) c.1471G>T (p.Glu491Ter) n.2747G>T | dbSNP |
17 | g.39725065A>C | CA399304145 | ERBB2 | c.2510A>C (p.Glu837Ala) c.2420A>C (p.Glu807Ala) c.1682A>C (p.Glu561Ala) c.2465A>C (p.Glu822Ala) c.*2300A>C (n.*2300A>C) c.616A>C n.3644A>C n.2834A>C c.2648A>C (p.Glu883Ala) c.2603A>C (p.Glu868Ala) c.2558A>C (p.Glu853Ala) c.2627A>C (p.Glu876Ala) c.2612A>C (p.Glu871Ala) c.2591A>C (p.Glu864Ala) c.2585A>C (p.Glu862Ala) c.2540A>C (p.Glu847Ala) c.2531A>C (p.Glu844Ala) c.2507A>C (p.Glu836Ala) c.2501A>C (p.Glu834Ala) c.2474A>C (p.Glu825Ala) c.2468A>C (p.Glu823Ala) c.2462A>C (p.Glu821Ala) c.2411A>C (p.Glu804Ala) c.2493+154A>C (n.2493+154A>C) c.2330A>C (p.Glu777Ala) c.2324A>C (p.Glu775Ala) c.2445+154A>C (n.2445+154A>C) c.2252A>C (p.Glu751Ala) c.2208+1405A>C (n.2208+1405A>C) c.1472A>C (p.Glu491Ala) n.2748A>C | gnomAD v4 |
17 | g.39725065A>G | CA399304147 | ERBB2 | c.2510A>G (p.Glu837Gly) c.2420A>G (p.Glu807Gly) c.1682A>G (p.Glu561Gly) c.2465A>G (p.Glu822Gly) c.*2300A>G (n.*2300A>G) c.616A>G n.3644A>G n.2834A>G c.2648A>G (p.Glu883Gly) c.2603A>G (p.Glu868Gly) c.2558A>G (p.Glu853Gly) c.2627A>G (p.Glu876Gly) c.2612A>G (p.Glu871Gly) c.2591A>G (p.Glu864Gly) c.2585A>G (p.Glu862Gly) c.2540A>G (p.Glu847Gly) c.2531A>G (p.Glu844Gly) c.2507A>G (p.Glu836Gly) c.2501A>G (p.Glu834Gly) c.2474A>G (p.Glu825Gly) c.2468A>G (p.Glu823Gly) c.2462A>G (p.Glu821Gly) c.2411A>G (p.Glu804Gly) c.2493+154A>G (n.2493+154A>G) c.2330A>G (p.Glu777Gly) c.2324A>G (p.Glu775Gly) c.2445+154A>G (n.2445+154A>G) c.2252A>G (p.Glu751Gly) c.2208+1405A>G (n.2208+1405A>G) c.1472A>G (p.Glu491Gly) n.2748A>G | |
17 | g.39725065A>T | CA399304149 | ERBB2 | c.2510A>T (p.Glu837Val) c.2420A>T (p.Glu807Val) c.1682A>T (p.Glu561Val) c.2465A>T (p.Glu822Val) c.*2300A>T (n.*2300A>T) c.616A>T n.3644A>T n.2834A>T c.2648A>T (p.Glu883Val) c.2603A>T (p.Glu868Val) c.2558A>T (p.Glu853Val) c.2627A>T (p.Glu876Val) c.2612A>T (p.Glu871Val) c.2591A>T (p.Glu864Val) c.2585A>T (p.Glu862Val) c.2540A>T (p.Glu847Val) c.2531A>T (p.Glu844Val) c.2507A>T (p.Glu836Val) c.2501A>T (p.Glu834Val) c.2474A>T (p.Glu825Val) c.2468A>T (p.Glu823Val) c.2462A>T (p.Glu821Val) c.2411A>T (p.Glu804Val) c.2493+154A>T (n.2493+154A>T) c.2330A>T (p.Glu777Val) c.2324A>T (p.Glu775Val) c.2445+154A>T (n.2445+154A>T) c.2252A>T (p.Glu751Val) c.2208+1405A>T (n.2208+1405A>T) c.1472A>T (p.Glu491Val) n.2748A>T | |
17 | g.39725066G>A | CA499890084 | ERBB2 | c.2511G>A (p.Glu837=) c.2421G>A (p.Glu807=) c.1683G>A (p.Glu561=) c.2466G>A (p.Glu822=) c.*2301G>A (n.*2301G>A) c.617G>A n.3645G>A n.2835G>A c.2649G>A (p.Glu883=) c.2604G>A (p.Glu868=) c.2559G>A (p.Glu853=) c.2628G>A (p.Glu876=) c.2613G>A (p.Glu871=) c.2592G>A (p.Glu864=) c.2586G>A (p.Glu862=) c.2541G>A (p.Glu847=) c.2532G>A (p.Glu844=) c.2508G>A (p.Glu836=) c.2502G>A (p.Glu834=) c.2475G>A (p.Glu825=) c.2469G>A (p.Glu823=) c.2463G>A (p.Glu821=) c.2412G>A (p.Glu804=) c.2493+155G>A (n.2493+155G>A) c.2331G>A (p.Glu777=) c.2325G>A (p.Glu775=) c.2445+155G>A (n.2445+155G>A) c.2253G>A (p.Glu751=) c.2208+1406G>A (n.2208+1406G>A) c.1473G>A (p.Glu491=) n.2749G>A | dbSNP |
17 | g.39725066G>C | CA399304157 | ERBB2 | c.2511G>C (p.Glu837Asp) c.2421G>C (p.Glu807Asp) c.1683G>C (p.Glu561Asp) c.2466G>C (p.Glu822Asp) c.*2301G>C (n.*2301G>C) c.617G>C n.3645G>C n.2835G>C c.2649G>C (p.Glu883Asp) c.2604G>C (p.Glu868Asp) c.2559G>C (p.Glu853Asp) c.2628G>C (p.Glu876Asp) c.2613G>C (p.Glu871Asp) c.2592G>C (p.Glu864Asp) c.2586G>C (p.Glu862Asp) c.2541G>C (p.Glu847Asp) c.2532G>C (p.Glu844Asp) c.2508G>C (p.Glu836Asp) c.2502G>C (p.Glu834Asp) c.2475G>C (p.Glu825Asp) c.2469G>C (p.Glu823Asp) c.2463G>C (p.Glu821Asp) c.2412G>C (p.Glu804Asp) c.2493+155G>C (n.2493+155G>C) c.2331G>C (p.Glu777Asp) c.2325G>C (p.Glu775Asp) c.2445+155G>C (n.2445+155G>C) c.2253G>C (p.Glu751Asp) c.2208+1406G>C (n.2208+1406G>C) c.1473G>C (p.Glu491Asp) n.2749G>C | dbSNP |
17 | g.39725066G>T | CA399304171 | ERBB2 | c.2511G>T (p.Glu837Asp) c.2421G>T (p.Glu807Asp) c.1683G>T (p.Glu561Asp) c.2466G>T (p.Glu822Asp) c.*2301G>T (n.*2301G>T) c.617G>T n.3645G>T n.2835G>T c.2649G>T (p.Glu883Asp) c.2604G>T (p.Glu868Asp) c.2559G>T (p.Glu853Asp) c.2628G>T (p.Glu876Asp) c.2613G>T (p.Glu871Asp) c.2592G>T (p.Glu864Asp) c.2586G>T (p.Glu862Asp) c.2541G>T (p.Glu847Asp) c.2532G>T (p.Glu844Asp) c.2508G>T (p.Glu836Asp) c.2502G>T (p.Glu834Asp) c.2475G>T (p.Glu825Asp) c.2469G>T (p.Glu823Asp) c.2463G>T (p.Glu821Asp) c.2412G>T (p.Glu804Asp) c.2493+155G>T (n.2493+155G>T) c.2331G>T (p.Glu777Asp) c.2325G>T (p.Glu775Asp) c.2445+155G>T (n.2445+155G>T) c.2253G>T (p.Glu751Asp) c.2208+1406G>T (n.2208+1406G>T) c.1473G>T (p.Glu491Asp) n.2749G>T | dbSNP |
17 | g.39725067G>A | CA399304178 | ERBB2 | c.2512G>A (p.Asp838Asn) c.2422G>A (p.Asp808Asn) c.1684G>A (p.Asp562Asn) c.2467G>A (p.Asp823Asn) c.*2302G>A (n.*2302G>A) c.618G>A n.3646G>A n.2836G>A c.2650G>A (p.Asp884Asn) c.2605G>A (p.Asp869Asn) c.2560G>A (p.Asp854Asn) c.2629G>A (p.Asp877Asn) c.2614G>A (p.Asp872Asn) c.2593G>A (p.Asp865Asn) c.2587G>A (p.Asp863Asn) c.2542G>A (p.Asp848Asn) c.2533G>A (p.Asp845Asn) c.2509G>A (p.Asp837Asn) c.2503G>A (p.Asp835Asn) c.2476G>A (p.Asp826Asn) c.2470G>A (p.Asp824Asn) c.2464G>A (p.Asp822Asn) c.2413G>A (p.Asp805Asn) c.2493+156G>A (n.2493+156G>A) c.2332G>A (p.Asp778Asn) c.2326G>A (p.Asp776Asn) c.2445+156G>A (n.2445+156G>A) c.2254G>A (p.Asp752Asn) c.2208+1407G>A (n.2208+1407G>A) c.1474G>A (p.Asp492Asn) n.2750G>A | dbSNP gnomAD v4 |
17 | g.39725067G>C | CA399304181 | ERBB2 | c.2512G>C (p.Asp838His) c.2422G>C (p.Asp808His) c.1684G>C (p.Asp562His) c.2467G>C (p.Asp823His) c.*2302G>C (n.*2302G>C) c.618G>C n.3646G>C n.2836G>C c.2650G>C (p.Asp884His) c.2605G>C (p.Asp869His) c.2560G>C (p.Asp854His) c.2629G>C (p.Asp877His) c.2614G>C (p.Asp872His) c.2593G>C (p.Asp865His) c.2587G>C (p.Asp863His) c.2542G>C (p.Asp848His) c.2533G>C (p.Asp845His) c.2509G>C (p.Asp837His) c.2503G>C (p.Asp835His) c.2476G>C (p.Asp826His) c.2470G>C (p.Asp824His) c.2464G>C (p.Asp822His) c.2413G>C (p.Asp805His) c.2493+156G>C (n.2493+156G>C) c.2332G>C (p.Asp778His) c.2326G>C (p.Asp776His) c.2445+156G>C (n.2445+156G>C) c.2254G>C (p.Asp752His) c.2208+1407G>C (n.2208+1407G>C) c.1474G>C (p.Asp492His) n.2750G>C | dbSNP |
17 | g.39725067G>T | CA399304183 | ERBB2 | c.2512G>T (p.Asp838Tyr) c.2422G>T (p.Asp808Tyr) c.1684G>T (p.Asp562Tyr) c.2467G>T (p.Asp823Tyr) c.*2302G>T (n.*2302G>T) c.618G>T n.3646G>T n.2836G>T c.2650G>T (p.Asp884Tyr) c.2605G>T (p.Asp869Tyr) c.2560G>T (p.Asp854Tyr) c.2629G>T (p.Asp877Tyr) c.2614G>T (p.Asp872Tyr) c.2593G>T (p.Asp865Tyr) c.2587G>T (p.Asp863Tyr) c.2542G>T (p.Asp848Tyr) c.2533G>T (p.Asp845Tyr) c.2509G>T (p.Asp837Tyr) c.2503G>T (p.Asp835Tyr) c.2476G>T (p.Asp826Tyr) c.2470G>T (p.Asp824Tyr) c.2464G>T (p.Asp822Tyr) c.2413G>T (p.Asp805Tyr) c.2493+156G>T (n.2493+156G>T) c.2332G>T (p.Asp778Tyr) c.2326G>T (p.Asp776Tyr) c.2445+156G>T (n.2445+156G>T) c.2254G>T (p.Asp752Tyr) c.2208+1407G>T (n.2208+1407G>T) c.1474G>T (p.Asp492Tyr) n.2750G>T | dbSNP |
17 | g.39725068A>C | CA399304188 | ERBB2 | c.2513A>C (p.Asp838Ala) c.2423A>C (p.Asp808Ala) c.1685A>C (p.Asp562Ala) c.2468A>C (p.Asp823Ala) c.*2303A>C (n.*2303A>C) c.619A>C n.3647A>C n.2837A>C c.2651A>C (p.Asp884Ala) c.2606A>C (p.Asp869Ala) c.2561A>C (p.Asp854Ala) c.2630A>C (p.Asp877Ala) c.2615A>C (p.Asp872Ala) c.2594A>C (p.Asp865Ala) c.2588A>C (p.Asp863Ala) c.2543A>C (p.Asp848Ala) c.2534A>C (p.Asp845Ala) c.2510A>C (p.Asp837Ala) c.2504A>C (p.Asp835Ala) c.2477A>C (p.Asp826Ala) c.2471A>C (p.Asp824Ala) c.2465A>C (p.Asp822Ala) c.2414A>C (p.Asp805Ala) c.2493+157A>C (n.2493+157A>C) c.2333A>C (p.Asp778Ala) c.2327A>C (p.Asp776Ala) c.2445+157A>C (n.2445+157A>C) c.2255A>C (p.Asp752Ala) c.2208+1408A>C (n.2208+1408A>C) c.1475A>C (p.Asp492Ala) n.2751A>C | dbSNP |
17 | g.39725068A>G | CA399304198 | ERBB2 | c.2513A>G (p.Asp838Gly) c.2423A>G (p.Asp808Gly) c.1685A>G (p.Asp562Gly) c.2468A>G (p.Asp823Gly) c.*2303A>G (n.*2303A>G) c.619A>G n.3647A>G n.2837A>G c.2651A>G (p.Asp884Gly) c.2606A>G (p.Asp869Gly) c.2561A>G (p.Asp854Gly) c.2630A>G (p.Asp877Gly) c.2615A>G (p.Asp872Gly) c.2594A>G (p.Asp865Gly) c.2588A>G (p.Asp863Gly) c.2543A>G (p.Asp848Gly) c.2534A>G (p.Asp845Gly) c.2510A>G (p.Asp837Gly) c.2504A>G (p.Asp835Gly) c.2477A>G (p.Asp826Gly) c.2471A>G (p.Asp824Gly) c.2465A>G (p.Asp822Gly) c.2414A>G (p.Asp805Gly) c.2493+157A>G (n.2493+157A>G) c.2333A>G (p.Asp778Gly) c.2327A>G (p.Asp776Gly) c.2445+157A>G (n.2445+157A>G) c.2255A>G (p.Asp752Gly) c.2208+1408A>G (n.2208+1408A>G) c.1475A>G (p.Asp492Gly) n.2751A>G | dbSNP |
17 | g.39725068A>T | CA399304206 | ERBB2 | c.2513A>T (p.Asp838Val) c.2423A>T (p.Asp808Val) c.1685A>T (p.Asp562Val) c.2468A>T (p.Asp823Val) c.*2303A>T (n.*2303A>T) c.619A>T n.3647A>T n.2837A>T c.2651A>T (p.Asp884Val) c.2606A>T (p.Asp869Val) c.2561A>T (p.Asp854Val) c.2630A>T (p.Asp877Val) c.2615A>T (p.Asp872Val) c.2594A>T (p.Asp865Val) c.2588A>T (p.Asp863Val) c.2543A>T (p.Asp848Val) c.2534A>T (p.Asp845Val) c.2510A>T (p.Asp837Val) c.2504A>T (p.Asp835Val) c.2477A>T (p.Asp826Val) c.2471A>T (p.Asp824Val) c.2465A>T (p.Asp822Val) c.2414A>T (p.Asp805Val) c.2493+157A>T (n.2493+157A>T) c.2333A>T (p.Asp778Val) c.2327A>T (p.Asp776Val) c.2445+157A>T (n.2445+157A>T) c.2255A>T (p.Asp752Val) c.2208+1408A>T (n.2208+1408A>T) c.1475A>T (p.Asp492Val) n.2751A>T | dbSNP |
17 | g.39725069T>A | CA399304211 | ERBB2 | c.2514T>A (p.Asp838Glu) c.2424T>A (p.Asp808Glu) c.1686T>A (p.Asp562Glu) c.2469T>A (p.Asp823Glu) c.*2304T>A (n.*2304T>A) c.620T>A n.3648T>A n.2838T>A c.2652T>A (p.Asp884Glu) c.2607T>A (p.Asp869Glu) c.2562T>A (p.Asp854Glu) c.2631T>A (p.Asp877Glu) c.2616T>A (p.Asp872Glu) c.2595T>A (p.Asp865Glu) c.2589T>A (p.Asp863Glu) c.2544T>A (p.Asp848Glu) c.2535T>A (p.Asp845Glu) c.2511T>A (p.Asp837Glu) c.2505T>A (p.Asp835Glu) c.2478T>A (p.Asp826Glu) c.2472T>A (p.Asp824Glu) c.2466T>A (p.Asp822Glu) c.2415T>A (p.Asp805Glu) c.2493+158T>A (n.2493+158T>A) c.2334T>A (p.Asp778Glu) c.2328T>A (p.Asp776Glu) c.2445+158T>A (n.2445+158T>A) c.2256T>A (p.Asp752Glu) c.2208+1409T>A (n.2208+1409T>A) c.1476T>A (p.Asp492Glu) n.2752T>A | dbSNP |
17 | g.39725069T>C | CA499890085 | ERBB2 | c.2514T>C (p.Asp838=) c.2424T>C (p.Asp808=) c.1686T>C (p.Asp562=) c.2469T>C (p.Asp823=) c.*2304T>C (n.*2304T>C) c.620T>C n.3648T>C n.2838T>C c.2652T>C (p.Asp884=) c.2607T>C (p.Asp869=) c.2562T>C (p.Asp854=) c.2631T>C (p.Asp877=) c.2616T>C (p.Asp872=) c.2595T>C (p.Asp865=) c.2589T>C (p.Asp863=) c.2544T>C (p.Asp848=) c.2535T>C (p.Asp845=) c.2511T>C (p.Asp837=) c.2505T>C (p.Asp835=) c.2478T>C (p.Asp826=) c.2472T>C (p.Asp824=) c.2466T>C (p.Asp822=) c.2415T>C (p.Asp805=) c.2493+158T>C (n.2493+158T>C) c.2334T>C (p.Asp778=) c.2328T>C (p.Asp776=) c.2445+158T>C (n.2445+158T>C) c.2256T>C (p.Asp752=) c.2208+1409T>C (n.2208+1409T>C) c.1476T>C (p.Asp492=) n.2752T>C | dbSNP |
17 | g.39725069T>G | CA399304214 | ERBB2 | c.2514T>G (p.Asp838Glu) c.2424T>G (p.Asp808Glu) c.1686T>G (p.Asp562Glu) c.2469T>G (p.Asp823Glu) c.*2304T>G (n.*2304T>G) c.620T>G n.3648T>G n.2838T>G c.2652T>G (p.Asp884Glu) c.2607T>G (p.Asp869Glu) c.2562T>G (p.Asp854Glu) c.2631T>G (p.Asp877Glu) c.2616T>G (p.Asp872Glu) c.2595T>G (p.Asp865Glu) c.2589T>G (p.Asp863Glu) c.2544T>G (p.Asp848Glu) c.2535T>G (p.Asp845Glu) c.2511T>G (p.Asp837Glu) c.2505T>G (p.Asp835Glu) c.2478T>G (p.Asp826Glu) c.2472T>G (p.Asp824Glu) c.2466T>G (p.Asp822Glu) c.2415T>G (p.Asp805Glu) c.2493+158T>G (n.2493+158T>G) c.2334T>G (p.Asp778Glu) c.2328T>G (p.Asp776Glu) c.2445+158T>G (n.2445+158T>G) c.2256T>G (p.Asp752Glu) c.2208+1409T>G (n.2208+1409T>G) c.1476T>G (p.Asp492Glu) n.2752T>G | dbSNP |
17 | g.39725070G>A | CA399304217 | ERBB2 | c.2515G>A (p.Val839Met) c.2425G>A (p.Val809Met) c.1687G>A (p.Val563Met) c.2470G>A (p.Val824Met) c.*2305G>A (n.*2305G>A) c.621G>A n.3649G>A n.2839G>A c.2653G>A (p.Val885Met) c.2608G>A (p.Val870Met) c.2563G>A (p.Val855Met) c.2632G>A (p.Val878Met) c.2617G>A (p.Val873Met) c.2596G>A (p.Val866Met) c.2590G>A (p.Val864Met) c.2545G>A (p.Val849Met) c.2536G>A (p.Val846Met) c.2512G>A (p.Val838Met) c.2506G>A (p.Val836Met) c.2479G>A (p.Val827Met) c.2473G>A (p.Val825Met) c.2467G>A (p.Val823Met) c.2416G>A (p.Val806Met) c.2493+159G>A (n.2493+159G>A) c.2335G>A (p.Val779Met) c.2329G>A (p.Val777Met) c.2445+159G>A (n.2445+159G>A) c.2257G>A (p.Val753Met) c.2208+1410G>A (n.2208+1410G>A) c.1477G>A (p.Val493Met) n.2753G>A | ClinVar dbSNP |
17 | g.39725070G>C | CA399304221 | ERBB2 | c.2515G>C (p.Val839Leu) c.2425G>C (p.Val809Leu) c.1687G>C (p.Val563Leu) c.2470G>C (p.Val824Leu) c.*2305G>C (n.*2305G>C) c.621G>C n.3649G>C n.2839G>C c.2653G>C (p.Val885Leu) c.2608G>C (p.Val870Leu) c.2563G>C (p.Val855Leu) c.2632G>C (p.Val878Leu) c.2617G>C (p.Val873Leu) c.2596G>C (p.Val866Leu) c.2590G>C (p.Val864Leu) c.2545G>C (p.Val849Leu) c.2536G>C (p.Val846Leu) c.2512G>C (p.Val838Leu) c.2506G>C (p.Val836Leu) c.2479G>C (p.Val827Leu) c.2473G>C (p.Val825Leu) c.2467G>C (p.Val823Leu) c.2416G>C (p.Val806Leu) c.2493+159G>C (n.2493+159G>C) c.2335G>C (p.Val779Leu) c.2329G>C (p.Val777Leu) c.2445+159G>C (n.2445+159G>C) c.2257G>C (p.Val753Leu) c.2208+1410G>C (n.2208+1410G>C) c.1477G>C (p.Val493Leu) n.2753G>C | dbSNP |
17 | g.39725070G>T | CA399304225 | ERBB2 | c.2515G>T (p.Val839Leu) c.2425G>T (p.Val809Leu) c.1687G>T (p.Val563Leu) c.2470G>T (p.Val824Leu) c.*2305G>T (n.*2305G>T) c.621G>T n.3649G>T n.2839G>T c.2653G>T (p.Val885Leu) c.2608G>T (p.Val870Leu) c.2563G>T (p.Val855Leu) c.2632G>T (p.Val878Leu) c.2617G>T (p.Val873Leu) c.2596G>T (p.Val866Leu) c.2590G>T (p.Val864Leu) c.2545G>T (p.Val849Leu) c.2536G>T (p.Val846Leu) c.2512G>T (p.Val838Leu) c.2506G>T (p.Val836Leu) c.2479G>T (p.Val827Leu) c.2473G>T (p.Val825Leu) c.2467G>T (p.Val823Leu) c.2416G>T (p.Val806Leu) c.2493+159G>T (n.2493+159G>T) c.2335G>T (p.Val779Leu) c.2329G>T (p.Val777Leu) c.2445+159G>T (n.2445+159G>T) c.2257G>T (p.Val753Leu) c.2208+1410G>T (n.2208+1410G>T) c.1477G>T (p.Val493Leu) n.2753G>T | |
17 | g.39725071T>A | CA399304233 | ERBB2 | c.2516T>A (p.Val839Glu) c.2426T>A (p.Val809Glu) c.1688T>A (p.Val563Glu) c.2471T>A (p.Val824Glu) c.*2306T>A (n.*2306T>A) c.622T>A n.3650T>A n.2840T>A c.2654T>A (p.Val885Glu) c.2609T>A (p.Val870Glu) c.2564T>A (p.Val855Glu) c.2633T>A (p.Val878Glu) c.2618T>A (p.Val873Glu) c.2597T>A (p.Val866Glu) c.2591T>A (p.Val864Glu) c.2546T>A (p.Val849Glu) c.2537T>A (p.Val846Glu) c.2513T>A (p.Val838Glu) c.2507T>A (p.Val836Glu) c.2480T>A (p.Val827Glu) c.2474T>A (p.Val825Glu) c.2468T>A (p.Val823Glu) c.2417T>A (p.Val806Glu) c.2493+160T>A (n.2493+160T>A) c.2336T>A (p.Val779Glu) c.2330T>A (p.Val777Glu) c.2445+160T>A (n.2445+160T>A) c.2258T>A (p.Val753Glu) c.2208+1411T>A (n.2208+1411T>A) c.1478T>A (p.Val493Glu) n.2754T>A | |
17 | g.39725071T>C | CA399304238 | ERBB2 | c.2516T>C (p.Val839Ala) c.2426T>C (p.Val809Ala) c.1688T>C (p.Val563Ala) c.2471T>C (p.Val824Ala) c.*2306T>C (n.*2306T>C) c.622T>C n.3650T>C n.2840T>C c.2654T>C (p.Val885Ala) c.2609T>C (p.Val870Ala) c.2564T>C (p.Val855Ala) c.2633T>C (p.Val878Ala) c.2618T>C (p.Val873Ala) c.2597T>C (p.Val866Ala) c.2591T>C (p.Val864Ala) c.2546T>C (p.Val849Ala) c.2537T>C (p.Val846Ala) c.2513T>C (p.Val838Ala) c.2507T>C (p.Val836Ala) c.2480T>C (p.Val827Ala) c.2474T>C (p.Val825Ala) c.2468T>C (p.Val823Ala) c.2417T>C (p.Val806Ala) c.2493+160T>C (n.2493+160T>C) c.2336T>C (p.Val779Ala) c.2330T>C (p.Val777Ala) c.2445+160T>C (n.2445+160T>C) c.2258T>C (p.Val753Ala) c.2208+1411T>C (n.2208+1411T>C) c.1478T>C (p.Val493Ala) n.2754T>C | |
17 | g.39725071T>G | CA399304241 | ERBB2 | c.2516T>G (p.Val839Gly) c.2426T>G (p.Val809Gly) c.1688T>G (p.Val563Gly) c.2471T>G (p.Val824Gly) c.*2306T>G (n.*2306T>G) c.622T>G n.3650T>G n.2840T>G c.2654T>G (p.Val885Gly) c.2609T>G (p.Val870Gly) c.2564T>G (p.Val855Gly) c.2633T>G (p.Val878Gly) c.2618T>G (p.Val873Gly) c.2597T>G (p.Val866Gly) c.2591T>G (p.Val864Gly) c.2546T>G (p.Val849Gly) c.2537T>G (p.Val846Gly) c.2513T>G (p.Val838Gly) c.2507T>G (p.Val836Gly) c.2480T>G (p.Val827Gly) c.2474T>G (p.Val825Gly) c.2468T>G (p.Val823Gly) c.2417T>G (p.Val806Gly) c.2493+160T>G (n.2493+160T>G) c.2336T>G (p.Val779Gly) c.2330T>G (p.Val777Gly) c.2445+160T>G (n.2445+160T>G) c.2258T>G (p.Val753Gly) c.2208+1411T>G (n.2208+1411T>G) c.1478T>G (p.Val493Gly) n.2754T>G | |
17 | g.39725072G>A | CA499890088 | ERBB2 | c.2517G>A (p.Val839=) c.2427G>A (p.Val809=) c.1689G>A (p.Val563=) c.2472G>A (p.Val824=) c.*2307G>A (n.*2307G>A) c.623G>A n.3651G>A n.2841G>A c.2655G>A (p.Val885=) c.2610G>A (p.Val870=) c.2565G>A (p.Val855=) c.2634G>A (p.Val878=) c.2619G>A (p.Val873=) c.2598G>A (p.Val866=) c.2592G>A (p.Val864=) c.2547G>A (p.Val849=) c.2538G>A (p.Val846=) c.2514G>A (p.Val838=) c.2508G>A (p.Val836=) c.2481G>A (p.Val827=) c.2475G>A (p.Val825=) c.2469G>A (p.Val823=) c.2418G>A (p.Val806=) c.2493+161G>A (n.2493+161G>A) c.2337G>A (p.Val779=) c.2331G>A (p.Val777=) c.2445+161G>A (n.2445+161G>A) c.2259G>A (p.Val753=) c.2208+1412G>A (n.2208+1412G>A) c.1479G>A (p.Val493=) n.2755G>A | dbSNP |
17 | g.39725072G>C | CA499890089 | ERBB2 | c.2517G>C (p.Val839=) c.2427G>C (p.Val809=) c.1689G>C (p.Val563=) c.2472G>C (p.Val824=) c.*2307G>C (n.*2307G>C) c.623G>C n.3651G>C n.2841G>C c.2655G>C (p.Val885=) c.2610G>C (p.Val870=) c.2565G>C (p.Val855=) c.2634G>C (p.Val878=) c.2619G>C (p.Val873=) c.2598G>C (p.Val866=) c.2592G>C (p.Val864=) c.2547G>C (p.Val849=) c.2538G>C (p.Val846=) c.2514G>C (p.Val838=) c.2508G>C (p.Val836=) c.2481G>C (p.Val827=) c.2475G>C (p.Val825=) c.2469G>C (p.Val823=) c.2418G>C (p.Val806=) c.2493+161G>C (n.2493+161G>C) c.2337G>C (p.Val779=) c.2331G>C (p.Val777=) c.2445+161G>C (n.2445+161G>C) c.2259G>C (p.Val753=) c.2208+1412G>C (n.2208+1412G>C) c.1479G>C (p.Val493=) n.2755G>C | dbSNP |
17 | g.39725072G>T | CA499890090 | ERBB2 | c.2517G>T (p.Val839=) c.2427G>T (p.Val809=) c.1689G>T (p.Val563=) c.2472G>T (p.Val824=) c.*2307G>T (n.*2307G>T) c.623G>T n.3651G>T n.2841G>T c.2655G>T (p.Val885=) c.2610G>T (p.Val870=) c.2565G>T (p.Val855=) c.2634G>T (p.Val878=) c.2619G>T (p.Val873=) c.2598G>T (p.Val866=) c.2592G>T (p.Val864=) c.2547G>T (p.Val849=) c.2538G>T (p.Val846=) c.2514G>T (p.Val838=) c.2508G>T (p.Val836=) c.2481G>T (p.Val827=) c.2475G>T (p.Val825=) c.2469G>T (p.Val823=) c.2418G>T (p.Val806=) c.2493+161G>T (n.2493+161G>T) c.2337G>T (p.Val779=) c.2331G>T (p.Val777=) c.2445+161G>T (n.2445+161G>T) c.2259G>T (p.Val753=) c.2208+1412G>T (n.2208+1412G>T) c.1479G>T (p.Val493=) n.2755G>T | |
17 | g.39725073C>A | CA499890091 | ERBB2 | c.2518C>A (p.Arg840=) c.2428C>A (p.Arg810=) c.1690C>A (p.Arg564=) c.2473C>A (p.Arg825=) c.*2308C>A (n.*2308C>A) c.624C>A n.3652C>A n.2842C>A c.2656C>A (p.Arg886=) c.2611C>A (p.Arg871=) c.2566C>A (p.Arg856=) c.2635C>A (p.Arg879=) c.2620C>A (p.Arg874=) c.2599C>A (p.Arg867=) c.2593C>A (p.Arg865=) c.2548C>A (p.Arg850=) c.2539C>A (p.Arg847=) c.2515C>A (p.Arg839=) c.2509C>A (p.Arg837=) c.2482C>A (p.Arg828=) c.2476C>A (p.Arg826=) c.2470C>A (p.Arg824=) c.2419C>A (p.Arg807=) c.2493+162C>A (n.2493+162C>A) c.2338C>A (p.Arg780=) c.2332C>A (p.Arg778=) c.2445+162C>A (n.2445+162C>A) c.2260C>A (p.Arg754=) c.2208+1413C>A (n.2208+1413C>A) c.1480C>A (p.Arg494=) n.2756C>A | |
17 | g.39725073C= | CA2259228124 | ERBB2 | c.2518C= (p.Arg840=) c.2428C= (p.Arg810=) c.1690C= (p.Arg564=) c.2473C= (p.Arg825=) c.*2308C= (n.*2308C=) c.624C= n.3652C= n.2842C= c.2656C= (p.Arg886=) c.2611C= (p.Arg871=) c.2566C= (p.Arg856=) c.2635C= (p.Arg879=) c.2620C= (p.Arg874=) c.2599C= (p.Arg867=) c.2593C= (p.Arg865=) c.2548C= (p.Arg850=) c.2539C= (p.Arg847=) c.2515C= (p.Arg839=) c.2509C= (p.Arg837=) c.2482C= (p.Arg828=) c.2476C= (p.Arg826=) c.2470C= (p.Arg824=) c.2419C= (p.Arg807=) c.2493+162C= (n.2493+162C=) c.2338C= (p.Arg780=) c.2332C= (p.Arg778=) c.2445+162C= (n.2445+162C=) c.2260C= (p.Arg754=) c.2208+1413C= (n.2208+1413C=) c.1480C= (p.Arg494=) n.2756C= | |
17 | g.39725073C>G | CA399304246 | ERBB2 | c.2518C>G (p.Arg840Gly) c.2428C>G (p.Arg810Gly) c.1690C>G (p.Arg564Gly) c.2473C>G (p.Arg825Gly) c.*2308C>G (n.*2308C>G) c.624C>G n.3652C>G n.2842C>G c.2656C>G (p.Arg886Gly) c.2611C>G (p.Arg871Gly) c.2566C>G (p.Arg856Gly) c.2635C>G (p.Arg879Gly) c.2620C>G (p.Arg874Gly) c.2599C>G (p.Arg867Gly) c.2593C>G (p.Arg865Gly) c.2548C>G (p.Arg850Gly) c.2539C>G (p.Arg847Gly) c.2515C>G (p.Arg839Gly) c.2509C>G (p.Arg837Gly) c.2482C>G (p.Arg828Gly) c.2476C>G (p.Arg826Gly) c.2470C>G (p.Arg824Gly) c.2419C>G (p.Arg807Gly) c.2493+162C>G (n.2493+162C>G) c.2338C>G (p.Arg780Gly) c.2332C>G (p.Arg778Gly) c.2445+162C>G (n.2445+162C>G) c.2260C>G (p.Arg754Gly) c.2208+1413C>G (n.2208+1413C>G) c.1480C>G (p.Arg494Gly) n.2756C>G | dbSNP |
17 | g.39725073C>T | CA290440894 | ERBB2 | c.2518C>T (p.Arg840Trp) c.2428C>T (p.Arg810Trp) c.1690C>T (p.Arg564Trp) c.2473C>T (p.Arg825Trp) c.*2308C>T (n.*2308C>T) c.624C>T n.3652C>T n.2842C>T c.2656C>T (p.Arg886Trp) c.2611C>T (p.Arg871Trp) c.2566C>T (p.Arg856Trp) c.2635C>T (p.Arg879Trp) c.2620C>T (p.Arg874Trp) c.2599C>T (p.Arg867Trp) c.2593C>T (p.Arg865Trp) c.2548C>T (p.Arg850Trp) c.2539C>T (p.Arg847Trp) c.2515C>T (p.Arg839Trp) c.2509C>T (p.Arg837Trp) c.2482C>T (p.Arg828Trp) c.2476C>T (p.Arg826Trp) c.2470C>T (p.Arg824Trp) c.2419C>T (p.Arg807Trp) c.2493+162C>T (n.2493+162C>T) c.2338C>T (p.Arg780Trp) c.2332C>T (p.Arg778Trp) c.2445+162C>T (n.2445+162C>T) c.2260C>T (p.Arg754Trp) c.2208+1413C>T (n.2208+1413C>T) c.1480C>T (p.Arg494Trp) n.2756C>T | dbSNP gnomAD v4 |
17 | g.39725074G>A | CA8534322 | ERBB2 | c.2519G>A (p.Arg840Gln) c.2429G>A (p.Arg810Gln) c.1691G>A (p.Arg564Gln) c.2474G>A (p.Arg825Gln) c.*2309G>A (n.*2309G>A) c.625G>A n.3653G>A n.2843G>A c.2657G>A (p.Arg886Gln) c.2612G>A (p.Arg871Gln) c.2567G>A (p.Arg856Gln) c.2636G>A (p.Arg879Gln) c.2621G>A (p.Arg874Gln) c.2600G>A (p.Arg867Gln) c.2594G>A (p.Arg865Gln) c.2549G>A (p.Arg850Gln) c.2540G>A (p.Arg847Gln) c.2516G>A (p.Arg839Gln) c.2510G>A (p.Arg837Gln) c.2483G>A (p.Arg828Gln) c.2477G>A (p.Arg826Gln) c.2471G>A (p.Arg824Gln) c.2420G>A (p.Arg807Gln) c.2493+163G>A (n.2493+163G>A) c.2339G>A (p.Arg780Gln) c.2333G>A (p.Arg778Gln) c.2445+163G>A (n.2445+163G>A) c.2261G>A (p.Arg754Gln) c.2208+1414G>A (n.2208+1414G>A) c.1481G>A (p.Arg494Gln) n.2757G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39725074G>C | CA399304251 | ERBB2 | c.2519G>C (p.Arg840Pro) c.2429G>C (p.Arg810Pro) c.1691G>C (p.Arg564Pro) c.2474G>C (p.Arg825Pro) c.*2309G>C (n.*2309G>C) c.625G>C n.3653G>C n.2843G>C c.2657G>C (p.Arg886Pro) c.2612G>C (p.Arg871Pro) c.2567G>C (p.Arg856Pro) c.2636G>C (p.Arg879Pro) c.2621G>C (p.Arg874Pro) c.2600G>C (p.Arg867Pro) c.2594G>C (p.Arg865Pro) c.2549G>C (p.Arg850Pro) c.2540G>C (p.Arg847Pro) c.2516G>C (p.Arg839Pro) c.2510G>C (p.Arg837Pro) c.2483G>C (p.Arg828Pro) c.2477G>C (p.Arg826Pro) c.2471G>C (p.Arg824Pro) c.2420G>C (p.Arg807Pro) c.2493+163G>C (n.2493+163G>C) c.2339G>C (p.Arg780Pro) c.2333G>C (p.Arg778Pro) c.2445+163G>C (n.2445+163G>C) c.2261G>C (p.Arg754Pro) c.2208+1414G>C (n.2208+1414G>C) c.1481G>C (p.Arg494Pro) n.2757G>C | dbSNP |
17 | g.39725074G= | CA2259228125 | ERBB2 | c.2519G= (p.Arg840=) c.2429G= (p.Arg810=) c.1691G= (p.Arg564=) c.2474G= (p.Arg825=) c.*2309G= (n.*2309G=) c.625G= n.3653G= n.2843G= c.2657G= (p.Arg886=) c.2612G= (p.Arg871=) c.2567G= (p.Arg856=) c.2636G= (p.Arg879=) c.2621G= (p.Arg874=) c.2600G= (p.Arg867=) c.2594G= (p.Arg865=) c.2549G= (p.Arg850=) c.2540G= (p.Arg847=) c.2516G= (p.Arg839=) c.2510G= (p.Arg837=) c.2483G= (p.Arg828=) c.2477G= (p.Arg826=) c.2471G= (p.Arg824=) c.2420G= (p.Arg807=) c.2493+163G= (n.2493+163G=) c.2339G= (p.Arg780=) c.2333G= (p.Arg778=) c.2445+163G= (n.2445+163G=) c.2261G= (p.Arg754=) c.2208+1414G= (n.2208+1414G=) c.1481G= (p.Arg494=) n.2757G= | |
17 | g.39725074G>T | CA399304253 | ERBB2 | c.2519G>T (p.Arg840Leu) c.2429G>T (p.Arg810Leu) c.1691G>T (p.Arg564Leu) c.2474G>T (p.Arg825Leu) c.*2309G>T (n.*2309G>T) c.625G>T n.3653G>T n.2843G>T c.2657G>T (p.Arg886Leu) c.2612G>T (p.Arg871Leu) c.2567G>T (p.Arg856Leu) c.2636G>T (p.Arg879Leu) c.2621G>T (p.Arg874Leu) c.2600G>T (p.Arg867Leu) c.2594G>T (p.Arg865Leu) c.2549G>T (p.Arg850Leu) c.2540G>T (p.Arg847Leu) c.2516G>T (p.Arg839Leu) c.2510G>T (p.Arg837Leu) c.2483G>T (p.Arg828Leu) c.2477G>T (p.Arg826Leu) c.2471G>T (p.Arg824Leu) c.2420G>T (p.Arg807Leu) c.2493+163G>T (n.2493+163G>T) c.2339G>T (p.Arg780Leu) c.2333G>T (p.Arg778Leu) c.2445+163G>T (n.2445+163G>T) c.2261G>T (p.Arg754Leu) c.2208+1414G>T (n.2208+1414G>T) c.1481G>T (p.Arg494Leu) n.2757G>T | dbSNP |
17 | g.39725075G>A | CA269845 | ERBB2 | c.2520G>A (p.Arg840=) c.2430G>A (p.Arg810=) c.1692G>A (p.Arg564=) c.2475G>A (p.Arg825=) c.*2310G>A (n.*2310G>A) c.626G>A n.3654G>A n.2844G>A c.2658G>A (p.Arg886=) c.2613G>A (p.Arg871=) c.2568G>A (p.Arg856=) c.2637G>A (p.Arg879=) c.2622G>A (p.Arg874=) c.2601G>A (p.Arg867=) c.2595G>A (p.Arg865=) c.2550G>A (p.Arg850=) c.2541G>A (p.Arg847=) c.2517G>A (p.Arg839=) c.2511G>A (p.Arg837=) c.2484G>A (p.Arg828=) c.2478G>A (p.Arg826=) c.2472G>A (p.Arg824=) c.2421G>A (p.Arg807=) c.2493+164G>A (n.2493+164G>A) c.2340G>A (p.Arg780=) c.2334G>A (p.Arg778=) c.2445+164G>A (n.2445+164G>A) c.2262G>A (p.Arg754=) c.2208+1415G>A (n.2208+1415G>A) c.1482G>A (p.Arg494=) n.2758G>A | ClinVar dbSNP gnomAD v4 |
17 | g.39725075G>C | CA499890092 | ERBB2 | c.2520G>C (p.Arg840=) c.2430G>C (p.Arg810=) c.1692G>C (p.Arg564=) c.2475G>C (p.Arg825=) c.*2310G>C (n.*2310G>C) c.626G>C n.3654G>C n.2844G>C c.2658G>C (p.Arg886=) c.2613G>C (p.Arg871=) c.2568G>C (p.Arg856=) c.2637G>C (p.Arg879=) c.2622G>C (p.Arg874=) c.2601G>C (p.Arg867=) c.2595G>C (p.Arg865=) c.2550G>C (p.Arg850=) c.2541G>C (p.Arg847=) c.2517G>C (p.Arg839=) c.2511G>C (p.Arg837=) c.2484G>C (p.Arg828=) c.2478G>C (p.Arg826=) c.2472G>C (p.Arg824=) c.2421G>C (p.Arg807=) c.2493+164G>C (n.2493+164G>C) c.2340G>C (p.Arg780=) c.2334G>C (p.Arg778=) c.2445+164G>C (n.2445+164G>C) c.2262G>C (p.Arg754=) c.2208+1415G>C (n.2208+1415G>C) c.1482G>C (p.Arg494=) n.2758G>C | dbSNP |
17 | g.39725075G= | CA2259228126 | ERBB2 | c.2520G= (p.Arg840=) c.2430G= (p.Arg810=) c.1692G= (p.Arg564=) c.2475G= (p.Arg825=) c.*2310G= (n.*2310G=) c.626G= n.3654G= n.2844G= c.2658G= (p.Arg886=) c.2613G= (p.Arg871=) c.2568G= (p.Arg856=) c.2637G= (p.Arg879=) c.2622G= (p.Arg874=) c.2601G= (p.Arg867=) c.2595G= (p.Arg865=) c.2550G= (p.Arg850=) c.2541G= (p.Arg847=) c.2517G= (p.Arg839=) c.2511G= (p.Arg837=) c.2484G= (p.Arg828=) c.2478G= (p.Arg826=) c.2472G= (p.Arg824=) c.2421G= (p.Arg807=) c.2493+164G= (n.2493+164G=) c.2340G= (p.Arg780=) c.2334G= (p.Arg778=) c.2445+164G= (n.2445+164G=) c.2262G= (p.Arg754=) c.2208+1415G= (n.2208+1415G=) c.1482G= (p.Arg494=) n.2758G= | |
17 | g.39725075G>T | CA499890093 | ERBB2 | c.2520G>T (p.Arg840=) c.2430G>T (p.Arg810=) c.1692G>T (p.Arg564=) c.2475G>T (p.Arg825=) c.*2310G>T (n.*2310G>T) c.626G>T n.3654G>T n.2844G>T c.2658G>T (p.Arg886=) c.2613G>T (p.Arg871=) c.2568G>T (p.Arg856=) c.2637G>T (p.Arg879=) c.2622G>T (p.Arg874=) c.2601G>T (p.Arg867=) c.2595G>T (p.Arg865=) c.2550G>T (p.Arg850=) c.2541G>T (p.Arg847=) c.2517G>T (p.Arg839=) c.2511G>T (p.Arg837=) c.2484G>T (p.Arg828=) c.2478G>T (p.Arg826=) c.2472G>T (p.Arg824=) c.2421G>T (p.Arg807=) c.2493+164G>T (n.2493+164G>T) c.2340G>T (p.Arg780=) c.2334G>T (p.Arg778=) c.2445+164G>T (n.2445+164G>T) c.2262G>T (p.Arg754=) c.2208+1415G>T (n.2208+1415G>T) c.1482G>T (p.Arg494=) n.2758G>T | dbSNP |
17 | g.39725076C>A | CA399304267 | ERBB2 | c.2521C>A (p.Leu841Ile) c.2431C>A (p.Leu811Ile) c.1693C>A (p.Leu565Ile) c.2476C>A (p.Leu826Ile) c.*2311C>A (n.*2311C>A) c.627C>A n.3655C>A n.2845C>A c.2659C>A (p.Leu887Ile) c.2614C>A (p.Leu872Ile) c.2569C>A (p.Leu857Ile) c.2638C>A (p.Leu880Ile) c.2623C>A (p.Leu875Ile) c.2602C>A (p.Leu868Ile) c.2596C>A (p.Leu866Ile) c.2551C>A (p.Leu851Ile) c.2542C>A (p.Leu848Ile) c.2518C>A (p.Leu840Ile) c.2512C>A (p.Leu838Ile) c.2485C>A (p.Leu829Ile) c.2479C>A (p.Leu827Ile) c.2473C>A (p.Leu825Ile) c.2422C>A (p.Leu808Ile) c.2493+165C>A (n.2493+165C>A) c.2341C>A (p.Leu781Ile) c.2335C>A (p.Leu779Ile) c.2445+165C>A (n.2445+165C>A) c.2263C>A (p.Leu755Ile) c.2208+1416C>A (n.2208+1416C>A) c.1483C>A (p.Leu495Ile) n.2759C>A | dbSNP |
17 | g.39725076C>G | CA399304263 | ERBB2 | c.2521C>G (p.Leu841Val) c.2431C>G (p.Leu811Val) c.1693C>G (p.Leu565Val) c.2476C>G (p.Leu826Val) c.*2311C>G (n.*2311C>G) c.627C>G n.3655C>G n.2845C>G c.2659C>G (p.Leu887Val) c.2614C>G (p.Leu872Val) c.2569C>G (p.Leu857Val) c.2638C>G (p.Leu880Val) c.2623C>G (p.Leu875Val) c.2602C>G (p.Leu868Val) c.2596C>G (p.Leu866Val) c.2551C>G (p.Leu851Val) c.2542C>G (p.Leu848Val) c.2518C>G (p.Leu840Val) c.2512C>G (p.Leu838Val) c.2485C>G (p.Leu829Val) c.2479C>G (p.Leu827Val) c.2473C>G (p.Leu825Val) c.2422C>G (p.Leu808Val) c.2493+165C>G (n.2493+165C>G) c.2341C>G (p.Leu781Val) c.2335C>G (p.Leu779Val) c.2445+165C>G (n.2445+165C>G) c.2263C>G (p.Leu755Val) c.2208+1416C>G (n.2208+1416C>G) c.1483C>G (p.Leu495Val) n.2759C>G | dbSNP COSMIC COSMIC |
17 | g.39725076C>T | CA399304265 | ERBB2 | c.2521C>T (p.Leu841Phe) c.2431C>T (p.Leu811Phe) c.1693C>T (p.Leu565Phe) c.2476C>T (p.Leu826Phe) c.*2311C>T (n.*2311C>T) c.627C>T n.3655C>T n.2845C>T c.2659C>T (p.Leu887Phe) c.2614C>T (p.Leu872Phe) c.2569C>T (p.Leu857Phe) c.2638C>T (p.Leu880Phe) c.2623C>T (p.Leu875Phe) c.2602C>T (p.Leu868Phe) c.2596C>T (p.Leu866Phe) c.2551C>T (p.Leu851Phe) c.2542C>T (p.Leu848Phe) c.2518C>T (p.Leu840Phe) c.2512C>T (p.Leu838Phe) c.2485C>T (p.Leu829Phe) c.2479C>T (p.Leu827Phe) c.2473C>T (p.Leu825Phe) c.2422C>T (p.Leu808Phe) c.2493+165C>T (n.2493+165C>T) c.2341C>T (p.Leu781Phe) c.2335C>T (p.Leu779Phe) c.2445+165C>T (n.2445+165C>T) c.2263C>T (p.Leu755Phe) c.2208+1416C>T (n.2208+1416C>T) c.1483C>T (p.Leu495Phe) n.2759C>T | dbSNP |
17 | g.39725077T>A | CA399304270 | ERBB2 | c.2522T>A (p.Leu841His) c.2432T>A (p.Leu811His) c.1694T>A (p.Leu565His) c.2477T>A (p.Leu826His) c.*2312T>A (n.*2312T>A) c.628T>A n.3656T>A n.2846T>A c.2660T>A (p.Leu887His) c.2615T>A (p.Leu872His) c.2570T>A (p.Leu857His) c.2639T>A (p.Leu880His) c.2624T>A (p.Leu875His) c.2603T>A (p.Leu868His) c.2597T>A (p.Leu866His) c.2552T>A (p.Leu851His) c.2543T>A (p.Leu848His) c.2519T>A (p.Leu840His) c.2513T>A (p.Leu838His) c.2486T>A (p.Leu829His) c.2480T>A (p.Leu827His) c.2474T>A (p.Leu825His) c.2423T>A (p.Leu808His) c.2493+166T>A (n.2493+166T>A) c.2342T>A (p.Leu781His) c.2336T>A (p.Leu779His) c.2445+166T>A (n.2445+166T>A) c.2264T>A (p.Leu755His) c.2208+1417T>A (n.2208+1417T>A) c.1484T>A (p.Leu495His) n.2760T>A | dbSNP |
17 | g.39725077T>C | CA399304271 | ERBB2 | c.2522T>C (p.Leu841Pro) c.2432T>C (p.Leu811Pro) c.1694T>C (p.Leu565Pro) c.2477T>C (p.Leu826Pro) c.*2312T>C (n.*2312T>C) c.628T>C n.3656T>C n.2846T>C c.2660T>C (p.Leu887Pro) c.2615T>C (p.Leu872Pro) c.2570T>C (p.Leu857Pro) c.2639T>C (p.Leu880Pro) c.2624T>C (p.Leu875Pro) c.2603T>C (p.Leu868Pro) c.2597T>C (p.Leu866Pro) c.2552T>C (p.Leu851Pro) c.2543T>C (p.Leu848Pro) c.2519T>C (p.Leu840Pro) c.2513T>C (p.Leu838Pro) c.2486T>C (p.Leu829Pro) c.2480T>C (p.Leu827Pro) c.2474T>C (p.Leu825Pro) c.2423T>C (p.Leu808Pro) c.2493+166T>C (n.2493+166T>C) c.2342T>C (p.Leu781Pro) c.2336T>C (p.Leu779Pro) c.2445+166T>C (n.2445+166T>C) c.2264T>C (p.Leu755Pro) c.2208+1417T>C (n.2208+1417T>C) c.1484T>C (p.Leu495Pro) n.2760T>C | dbSNP |
17 | g.39725077T>G | CA399304275 | ERBB2 | c.2522T>G (p.Leu841Arg) c.2432T>G (p.Leu811Arg) c.1694T>G (p.Leu565Arg) c.2477T>G (p.Leu826Arg) c.*2312T>G (n.*2312T>G) c.628T>G n.3656T>G n.2846T>G c.2660T>G (p.Leu887Arg) c.2615T>G (p.Leu872Arg) c.2570T>G (p.Leu857Arg) c.2639T>G (p.Leu880Arg) c.2624T>G (p.Leu875Arg) c.2603T>G (p.Leu868Arg) c.2597T>G (p.Leu866Arg) c.2552T>G (p.Leu851Arg) c.2543T>G (p.Leu848Arg) c.2519T>G (p.Leu840Arg) c.2513T>G (p.Leu838Arg) c.2486T>G (p.Leu829Arg) c.2480T>G (p.Leu827Arg) c.2474T>G (p.Leu825Arg) c.2423T>G (p.Leu808Arg) c.2493+166T>G (n.2493+166T>G) c.2342T>G (p.Leu781Arg) c.2336T>G (p.Leu779Arg) c.2445+166T>G (n.2445+166T>G) c.2264T>G (p.Leu755Arg) c.2208+1417T>G (n.2208+1417T>G) c.1484T>G (p.Leu495Arg) n.2760T>G | |
17 | g.39725078C>A | CA499890094 | ERBB2 | c.2523C>A (p.Leu841=) c.2433C>A (p.Leu811=) c.1695C>A (p.Leu565=) c.2478C>A (p.Leu826=) c.*2313C>A (n.*2313C>A) c.629C>A n.3657C>A n.2847C>A c.2661C>A (p.Leu887=) c.2616C>A (p.Leu872=) c.2571C>A (p.Leu857=) c.2640C>A (p.Leu880=) c.2625C>A (p.Leu875=) c.2604C>A (p.Leu868=) c.2598C>A (p.Leu866=) c.2553C>A (p.Leu851=) c.2544C>A (p.Leu848=) c.2520C>A (p.Leu840=) c.2514C>A (p.Leu838=) c.2487C>A (p.Leu829=) c.2481C>A (p.Leu827=) c.2475C>A (p.Leu825=) c.2424C>A (p.Leu808=) c.2493+167C>A (n.2493+167C>A) c.2343C>A (p.Leu781=) c.2337C>A (p.Leu779=) c.2445+167C>A (n.2445+167C>A) c.2265C>A (p.Leu755=) c.2208+1418C>A (n.2208+1418C>A) c.1485C>A (p.Leu495=) n.2761C>A | dbSNP |
17 | g.39725078C= | CA2259228127 | ERBB2 | c.2523C= (p.Leu841=) c.2433C= (p.Leu811=) c.1695C= (p.Leu565=) c.2478C= (p.Leu826=) c.*2313C= (n.*2313C=) c.629C= n.3657C= n.2847C= c.2661C= (p.Leu887=) c.2616C= (p.Leu872=) c.2571C= (p.Leu857=) c.2640C= (p.Leu880=) c.2625C= (p.Leu875=) c.2604C= (p.Leu868=) c.2598C= (p.Leu866=) c.2553C= (p.Leu851=) c.2544C= (p.Leu848=) c.2520C= (p.Leu840=) c.2514C= (p.Leu838=) c.2487C= (p.Leu829=) c.2481C= (p.Leu827=) c.2475C= (p.Leu825=) c.2424C= (p.Leu808=) c.2493+167C= (n.2493+167C=) c.2343C= (p.Leu781=) c.2337C= (p.Leu779=) c.2445+167C= (n.2445+167C=) c.2265C= (p.Leu755=) c.2208+1418C= (n.2208+1418C=) c.1485C= (p.Leu495=) n.2761C= | |
17 | g.39725078C>G | CA499890095 | ERBB2 | c.2523C>G (p.Leu841=) c.2433C>G (p.Leu811=) c.1695C>G (p.Leu565=) c.2478C>G (p.Leu826=) c.*2313C>G (n.*2313C>G) c.629C>G n.3657C>G n.2847C>G c.2661C>G (p.Leu887=) c.2616C>G (p.Leu872=) c.2571C>G (p.Leu857=) c.2640C>G (p.Leu880=) c.2625C>G (p.Leu875=) c.2604C>G (p.Leu868=) c.2598C>G (p.Leu866=) c.2553C>G (p.Leu851=) c.2544C>G (p.Leu848=) c.2520C>G (p.Leu840=) c.2514C>G (p.Leu838=) c.2487C>G (p.Leu829=) c.2481C>G (p.Leu827=) c.2475C>G (p.Leu825=) c.2424C>G (p.Leu808=) c.2493+167C>G (n.2493+167C>G) c.2343C>G (p.Leu781=) c.2337C>G (p.Leu779=) c.2445+167C>G (n.2445+167C>G) c.2265C>G (p.Leu755=) c.2208+1418C>G (n.2208+1418C>G) c.1485C>G (p.Leu495=) n.2761C>G | dbSNP gnomAD v4 |
17 | g.39725078C>T | CA8534323 | ERBB2 | c.2523C>T (p.Leu841=) c.2433C>T (p.Leu811=) c.1695C>T (p.Leu565=) c.2478C>T (p.Leu826=) c.*2313C>T (n.*2313C>T) c.629C>T n.3657C>T n.2847C>T c.2661C>T (p.Leu887=) c.2616C>T (p.Leu872=) c.2571C>T (p.Leu857=) c.2640C>T (p.Leu880=) c.2625C>T (p.Leu875=) c.2604C>T (p.Leu868=) c.2598C>T (p.Leu866=) c.2553C>T (p.Leu851=) c.2544C>T (p.Leu848=) c.2520C>T (p.Leu840=) c.2514C>T (p.Leu838=) c.2487C>T (p.Leu829=) c.2481C>T (p.Leu827=) c.2475C>T (p.Leu825=) c.2424C>T (p.Leu808=) c.2493+167C>T (n.2493+167C>T) c.2343C>T (p.Leu781=) c.2337C>T (p.Leu779=) c.2445+167C>T (n.2445+167C>T) c.2265C>T (p.Leu755=) c.2208+1418C>T (n.2208+1418C>T) c.1485C>T (p.Leu495=) n.2761C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725079G>A | CA16602468 | ERBB2 | c.2524G>A (p.Val842Ile) c.2434G>A (p.Val812Ile) c.1696G>A (p.Val566Ile) c.2479G>A (p.Val827Ile) c.*2314G>A (n.*2314G>A) c.630G>A n.3658G>A n.2848G>A c.2662G>A (p.Val888Ile) c.2617G>A (p.Val873Ile) c.2572G>A (p.Val858Ile) c.2641G>A (p.Val881Ile) c.2626G>A (p.Val876Ile) c.2605G>A (p.Val869Ile) c.2599G>A (p.Val867Ile) c.2554G>A (p.Val852Ile) c.2545G>A (p.Val849Ile) c.2521G>A (p.Val841Ile) c.2515G>A (p.Val839Ile) c.2488G>A (p.Val830Ile) c.2482G>A (p.Val828Ile) c.2476G>A (p.Val826Ile) c.2425G>A (p.Val809Ile) c.2493+168G>A (n.2493+168G>A) c.2344G>A (p.Val782Ile) c.2338G>A (p.Val780Ile) c.2445+168G>A (n.2445+168G>A) c.2266G>A (p.Val756Ile) c.2208+1419G>A (n.2208+1419G>A) c.1486G>A (p.Val496Ile) n.2762G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39725079G>C | CA399304280 | ERBB2 | c.2524G>C (p.Val842Leu) c.2434G>C (p.Val812Leu) c.1696G>C (p.Val566Leu) c.2479G>C (p.Val827Leu) c.*2314G>C (n.*2314G>C) c.630G>C n.3658G>C n.2848G>C c.2662G>C (p.Val888Leu) c.2617G>C (p.Val873Leu) c.2572G>C (p.Val858Leu) c.2641G>C (p.Val881Leu) c.2626G>C (p.Val876Leu) c.2605G>C (p.Val869Leu) c.2599G>C (p.Val867Leu) c.2554G>C (p.Val852Leu) c.2545G>C (p.Val849Leu) c.2521G>C (p.Val841Leu) c.2515G>C (p.Val839Leu) c.2488G>C (p.Val830Leu) c.2482G>C (p.Val828Leu) c.2476G>C (p.Val826Leu) c.2425G>C (p.Val809Leu) c.2493+168G>C (n.2493+168G>C) c.2344G>C (p.Val782Leu) c.2338G>C (p.Val780Leu) c.2445+168G>C (n.2445+168G>C) c.2266G>C (p.Val756Leu) c.2208+1419G>C (n.2208+1419G>C) c.1486G>C (p.Val496Leu) n.2762G>C | dbSNP |
17 | g.39725079G= | CA2259228128 | ERBB2 | c.2524G= (p.Val842=) c.2434G= (p.Val812=) c.1696G= (p.Val566=) c.2479G= (p.Val827=) c.*2314G= (n.*2314G=) c.630G= n.3658G= n.2848G= c.2662G= (p.Val888=) c.2617G= (p.Val873=) c.2572G= (p.Val858=) c.2641G= (p.Val881=) c.2626G= (p.Val876=) c.2605G= (p.Val869=) c.2599G= (p.Val867=) c.2554G= (p.Val852=) c.2545G= (p.Val849=) c.2521G= (p.Val841=) c.2515G= (p.Val839=) c.2488G= (p.Val830=) c.2482G= (p.Val828=) c.2476G= (p.Val826=) c.2425G= (p.Val809=) c.2493+168G= (n.2493+168G=) c.2344G= (p.Val782=) c.2338G= (p.Val780=) c.2445+168G= (n.2445+168G=) c.2266G= (p.Val756=) c.2208+1419G= (n.2208+1419G=) c.1486G= (p.Val496=) n.2762G= | |
17 | g.39725079G>T | CA399304283 | ERBB2 | c.2524G>T (p.Val842Leu) c.2434G>T (p.Val812Leu) c.1696G>T (p.Val566Leu) c.2479G>T (p.Val827Leu) c.*2314G>T (n.*2314G>T) c.630G>T n.3658G>T n.2848G>T c.2662G>T (p.Val888Leu) c.2617G>T (p.Val873Leu) c.2572G>T (p.Val858Leu) c.2641G>T (p.Val881Leu) c.2626G>T (p.Val876Leu) c.2605G>T (p.Val869Leu) c.2599G>T (p.Val867Leu) c.2554G>T (p.Val852Leu) c.2545G>T (p.Val849Leu) c.2521G>T (p.Val841Leu) c.2515G>T (p.Val839Leu) c.2488G>T (p.Val830Leu) c.2482G>T (p.Val828Leu) c.2476G>T (p.Val826Leu) c.2425G>T (p.Val809Leu) c.2493+168G>T (n.2493+168G>T) c.2344G>T (p.Val782Leu) c.2338G>T (p.Val780Leu) c.2445+168G>T (n.2445+168G>T) c.2266G>T (p.Val756Leu) c.2208+1419G>T (n.2208+1419G>T) c.1486G>T (p.Val496Leu) n.2762G>T | dbSNP gnomAD v4 |
17 | g.39725080T>A | CA399304286 | ERBB2 | c.2525T>A (p.Val842Glu) c.2435T>A (p.Val812Glu) c.1697T>A (p.Val566Glu) c.2480T>A (p.Val827Glu) c.*2315T>A (n.*2315T>A) c.631T>A n.3659T>A n.2849T>A c.2663T>A (p.Val888Glu) c.2618T>A (p.Val873Glu) c.2573T>A (p.Val858Glu) c.2642T>A (p.Val881Glu) c.2627T>A (p.Val876Glu) c.2606T>A (p.Val869Glu) c.2600T>A (p.Val867Glu) c.2555T>A (p.Val852Glu) c.2546T>A (p.Val849Glu) c.2522T>A (p.Val841Glu) c.2516T>A (p.Val839Glu) c.2489T>A (p.Val830Glu) c.2483T>A (p.Val828Glu) c.2477T>A (p.Val826Glu) c.2426T>A (p.Val809Glu) c.2493+169T>A (n.2493+169T>A) c.2345T>A (p.Val782Glu) c.2339T>A (p.Val780Glu) c.2445+169T>A (n.2445+169T>A) c.2267T>A (p.Val756Glu) c.2208+1420T>A (n.2208+1420T>A) c.1487T>A (p.Val496Glu) n.2763T>A | dbSNP COSMIC |
17 | g.39725080T>C | CA399304289 | ERBB2 | c.2525T>C (p.Val842Ala) c.2435T>C (p.Val812Ala) c.1697T>C (p.Val566Ala) c.2480T>C (p.Val827Ala) c.*2315T>C (n.*2315T>C) c.631T>C n.3659T>C n.2849T>C c.2663T>C (p.Val888Ala) c.2618T>C (p.Val873Ala) c.2573T>C (p.Val858Ala) c.2642T>C (p.Val881Ala) c.2627T>C (p.Val876Ala) c.2606T>C (p.Val869Ala) c.2600T>C (p.Val867Ala) c.2555T>C (p.Val852Ala) c.2546T>C (p.Val849Ala) c.2522T>C (p.Val841Ala) c.2516T>C (p.Val839Ala) c.2489T>C (p.Val830Ala) c.2483T>C (p.Val828Ala) c.2477T>C (p.Val826Ala) c.2426T>C (p.Val809Ala) c.2493+169T>C (n.2493+169T>C) c.2345T>C (p.Val782Ala) c.2339T>C (p.Val780Ala) c.2445+169T>C (n.2445+169T>C) c.2267T>C (p.Val756Ala) c.2208+1420T>C (n.2208+1420T>C) c.1487T>C (p.Val496Ala) n.2763T>C | dbSNP |
17 | g.39725080T>G | CA399304293 | ERBB2 | c.2525T>G (p.Val842Gly) c.2435T>G (p.Val812Gly) c.1697T>G (p.Val566Gly) c.2480T>G (p.Val827Gly) c.*2315T>G (n.*2315T>G) c.631T>G n.3659T>G n.2849T>G c.2663T>G (p.Val888Gly) c.2618T>G (p.Val873Gly) c.2573T>G (p.Val858Gly) c.2642T>G (p.Val881Gly) c.2627T>G (p.Val876Gly) c.2606T>G (p.Val869Gly) c.2600T>G (p.Val867Gly) c.2555T>G (p.Val852Gly) c.2546T>G (p.Val849Gly) c.2522T>G (p.Val841Gly) c.2516T>G (p.Val839Gly) c.2489T>G (p.Val830Gly) c.2483T>G (p.Val828Gly) c.2477T>G (p.Val826Gly) c.2426T>G (p.Val809Gly) c.2493+169T>G (n.2493+169T>G) c.2345T>G (p.Val782Gly) c.2339T>G (p.Val780Gly) c.2445+169T>G (n.2445+169T>G) c.2267T>G (p.Val756Gly) c.2208+1420T>G (n.2208+1420T>G) c.1487T>G (p.Val496Gly) n.2763T>G | dbSNP |
17 | g.39725081A>C | CA499890097 | ERBB2 | c.2526A>C (p.Val842=) c.2436A>C (p.Val812=) c.1698A>C (p.Val566=) c.2481A>C (p.Val827=) c.*2316A>C (n.*2316A>C) c.632A>C n.3660A>C n.2850A>C c.2664A>C (p.Val888=) c.2619A>C (p.Val873=) c.2574A>C (p.Val858=) c.2643A>C (p.Val881=) c.2628A>C (p.Val876=) c.2607A>C (p.Val869=) c.2601A>C (p.Val867=) c.2556A>C (p.Val852=) c.2547A>C (p.Val849=) c.2523A>C (p.Val841=) c.2517A>C (p.Val839=) c.2490A>C (p.Val830=) c.2484A>C (p.Val828=) c.2478A>C (p.Val826=) c.2427A>C (p.Val809=) c.2493+170A>C (n.2493+170A>C) c.2346A>C (p.Val782=) c.2340A>C (p.Val780=) c.2445+170A>C (n.2445+170A>C) c.2268A>C (p.Val756=) c.2208+1421A>C (n.2208+1421A>C) c.1488A>C (p.Val496=) n.2764A>C | dbSNP |
17 | g.39725081A>G | CA499890098 | ERBB2 | c.2526A>G (p.Val842=) c.2436A>G (p.Val812=) c.1698A>G (p.Val566=) c.2481A>G (p.Val827=) c.*2316A>G (n.*2316A>G) c.632A>G n.3660A>G n.2850A>G c.2664A>G (p.Val888=) c.2619A>G (p.Val873=) c.2574A>G (p.Val858=) c.2643A>G (p.Val881=) c.2628A>G (p.Val876=) c.2607A>G (p.Val869=) c.2601A>G (p.Val867=) c.2556A>G (p.Val852=) c.2547A>G (p.Val849=) c.2523A>G (p.Val841=) c.2517A>G (p.Val839=) c.2490A>G (p.Val830=) c.2484A>G (p.Val828=) c.2478A>G (p.Val826=) c.2427A>G (p.Val809=) c.2493+170A>G (n.2493+170A>G) c.2346A>G (p.Val782=) c.2340A>G (p.Val780=) c.2445+170A>G (n.2445+170A>G) c.2268A>G (p.Val756=) c.2208+1421A>G (n.2208+1421A>G) c.1488A>G (p.Val496=) n.2764A>G | dbSNP |
17 | g.39725081A>T | CA499890099 | ERBB2 | c.2526A>T (p.Val842=) c.2436A>T (p.Val812=) c.1698A>T (p.Val566=) c.2481A>T (p.Val827=) c.*2316A>T (n.*2316A>T) c.632A>T n.3660A>T n.2850A>T c.2664A>T (p.Val888=) c.2619A>T (p.Val873=) c.2574A>T (p.Val858=) c.2643A>T (p.Val881=) c.2628A>T (p.Val876=) c.2607A>T (p.Val869=) c.2601A>T (p.Val867=) c.2556A>T (p.Val852=) c.2547A>T (p.Val849=) c.2523A>T (p.Val841=) c.2517A>T (p.Val839=) c.2490A>T (p.Val830=) c.2484A>T (p.Val828=) c.2478A>T (p.Val826=) c.2427A>T (p.Val809=) c.2493+170A>T (n.2493+170A>T) c.2346A>T (p.Val782=) c.2340A>T (p.Val780=) c.2445+170A>T (n.2445+170A>T) c.2268A>T (p.Val756=) c.2208+1421A>T (n.2208+1421A>T) c.1488A>T (p.Val496=) n.2764A>T | dbSNP |
17 | g.39725082C>A | CA399304313 | ERBB2 | c.2527C>A (p.His843Asn) c.2437C>A (p.His813Asn) c.1699C>A (p.His567Asn) c.2482C>A (p.His828Asn) c.*2317C>A (n.*2317C>A) c.633C>A n.3661C>A n.2851C>A c.2665C>A (p.His889Asn) c.2620C>A (p.His874Asn) c.2575C>A (p.His859Asn) c.2644C>A (p.His882Asn) c.2629C>A (p.His877Asn) c.2608C>A (p.His870Asn) c.2602C>A (p.His868Asn) c.2557C>A (p.His853Asn) c.2548C>A (p.His850Asn) c.2524C>A (p.His842Asn) c.2518C>A (p.His840Asn) c.2491C>A (p.His831Asn) c.2485C>A (p.His829Asn) c.2479C>A (p.His827Asn) c.2428C>A (p.His810Asn) c.2493+171C>A (n.2493+171C>A) c.2347C>A (p.His783Asn) c.2341C>A (p.His781Asn) c.2445+171C>A (n.2445+171C>A) c.2269C>A (p.His757Asn) c.2208+1422C>A (n.2208+1422C>A) c.1489C>A (p.His497Asn) n.2765C>A | |
17 | g.39725082C>G | CA399304296 | ERBB2 | c.2527C>G (p.His843Asp) c.2437C>G (p.His813Asp) c.1699C>G (p.His567Asp) c.2482C>G (p.His828Asp) c.*2317C>G (n.*2317C>G) c.633C>G n.3661C>G n.2851C>G c.2665C>G (p.His889Asp) c.2620C>G (p.His874Asp) c.2575C>G (p.His859Asp) c.2644C>G (p.His882Asp) c.2629C>G (p.His877Asp) c.2608C>G (p.His870Asp) c.2602C>G (p.His868Asp) c.2557C>G (p.His853Asp) c.2548C>G (p.His850Asp) c.2524C>G (p.His842Asp) c.2518C>G (p.His840Asp) c.2491C>G (p.His831Asp) c.2485C>G (p.His829Asp) c.2479C>G (p.His827Asp) c.2428C>G (p.His810Asp) c.2493+171C>G (n.2493+171C>G) c.2347C>G (p.His783Asp) c.2341C>G (p.His781Asp) c.2445+171C>G (n.2445+171C>G) c.2269C>G (p.His757Asp) c.2208+1422C>G (n.2208+1422C>G) c.1489C>G (p.His497Asp) n.2765C>G | dbSNP |
17 | g.39725082C>T | CA399304300 | ERBB2 | c.2527C>T (p.His843Tyr) c.2437C>T (p.His813Tyr) c.1699C>T (p.His567Tyr) c.2482C>T (p.His828Tyr) c.*2317C>T (n.*2317C>T) c.633C>T n.3661C>T n.2851C>T c.2665C>T (p.His889Tyr) c.2620C>T (p.His874Tyr) c.2575C>T (p.His859Tyr) c.2644C>T (p.His882Tyr) c.2629C>T (p.His877Tyr) c.2608C>T (p.His870Tyr) c.2602C>T (p.His868Tyr) c.2557C>T (p.His853Tyr) c.2548C>T (p.His850Tyr) c.2524C>T (p.His842Tyr) c.2518C>T (p.His840Tyr) c.2491C>T (p.His831Tyr) c.2485C>T (p.His829Tyr) c.2479C>T (p.His827Tyr) c.2428C>T (p.His810Tyr) c.2493+171C>T (n.2493+171C>T) c.2347C>T (p.His783Tyr) c.2341C>T (p.His781Tyr) c.2445+171C>T (n.2445+171C>T) c.2269C>T (p.His757Tyr) c.2208+1422C>T (n.2208+1422C>T) c.1489C>T (p.His497Tyr) n.2765C>T | dbSNP |
17 | g.39725083A>C | CA399304317 | ERBB2 | c.2528A>C (p.His843Pro) c.2438A>C (p.His813Pro) c.1700A>C (p.His567Pro) c.2483A>C (p.His828Pro) c.*2318A>C (n.*2318A>C) c.634A>C n.3662A>C n.2852A>C c.2666A>C (p.His889Pro) c.2621A>C (p.His874Pro) c.2576A>C (p.His859Pro) c.2645A>C (p.His882Pro) c.2630A>C (p.His877Pro) c.2609A>C (p.His870Pro) c.2603A>C (p.His868Pro) c.2558A>C (p.His853Pro) c.2549A>C (p.His850Pro) c.2525A>C (p.His842Pro) c.2519A>C (p.His840Pro) c.2492A>C (p.His831Pro) c.2486A>C (p.His829Pro) c.2480A>C (p.His827Pro) c.2429A>C (p.His810Pro) c.2493+172A>C (n.2493+172A>C) c.2348A>C (p.His783Pro) c.2342A>C (p.His781Pro) c.2445+172A>C (n.2445+172A>C) c.2270A>C (p.His757Pro) c.2208+1423A>C (n.2208+1423A>C) c.1490A>C (p.His497Pro) n.2766A>C | dbSNP |
17 | g.39725083A>G | CA399304320 | ERBB2 | c.2528A>G (p.His843Arg) c.2438A>G (p.His813Arg) c.1700A>G (p.His567Arg) c.2483A>G (p.His828Arg) c.*2318A>G (n.*2318A>G) c.634A>G n.3662A>G n.2852A>G c.2666A>G (p.His889Arg) c.2621A>G (p.His874Arg) c.2576A>G (p.His859Arg) c.2645A>G (p.His882Arg) c.2630A>G (p.His877Arg) c.2609A>G (p.His870Arg) c.2603A>G (p.His868Arg) c.2558A>G (p.His853Arg) c.2549A>G (p.His850Arg) c.2525A>G (p.His842Arg) c.2519A>G (p.His840Arg) c.2492A>G (p.His831Arg) c.2486A>G (p.His829Arg) c.2480A>G (p.His827Arg) c.2429A>G (p.His810Arg) c.2493+172A>G (n.2493+172A>G) c.2348A>G (p.His783Arg) c.2342A>G (p.His781Arg) c.2445+172A>G (n.2445+172A>G) c.2270A>G (p.His757Arg) c.2208+1423A>G (n.2208+1423A>G) c.1490A>G (p.His497Arg) n.2766A>G | |
17 | g.39725083A>T | CA399304322 | ERBB2 | c.2528A>T (p.His843Leu) c.2438A>T (p.His813Leu) c.1700A>T (p.His567Leu) c.2483A>T (p.His828Leu) c.*2318A>T (n.*2318A>T) c.634A>T n.3662A>T n.2852A>T c.2666A>T (p.His889Leu) c.2621A>T (p.His874Leu) c.2576A>T (p.His859Leu) c.2645A>T (p.His882Leu) c.2630A>T (p.His877Leu) c.2609A>T (p.His870Leu) c.2603A>T (p.His868Leu) c.2558A>T (p.His853Leu) c.2549A>T (p.His850Leu) c.2525A>T (p.His842Leu) c.2519A>T (p.His840Leu) c.2492A>T (p.His831Leu) c.2486A>T (p.His829Leu) c.2480A>T (p.His827Leu) c.2429A>T (p.His810Leu) c.2493+172A>T (n.2493+172A>T) c.2348A>T (p.His783Leu) c.2342A>T (p.His781Leu) c.2445+172A>T (n.2445+172A>T) c.2270A>T (p.His757Leu) c.2208+1423A>T (n.2208+1423A>T) c.1490A>T (p.His497Leu) n.2766A>T | dbSNP |
17 | g.39725084C>A | CA399304327 | ERBB2 | c.2529C>A (p.His843Gln) c.2439C>A (p.His813Gln) c.1701C>A (p.His567Gln) c.2484C>A (p.His828Gln) c.*2319C>A (n.*2319C>A) c.635C>A n.3663C>A n.2853C>A c.2667C>A (p.His889Gln) c.2622C>A (p.His874Gln) c.2577C>A (p.His859Gln) c.2646C>A (p.His882Gln) c.2631C>A (p.His877Gln) c.2610C>A (p.His870Gln) c.2604C>A (p.His868Gln) c.2559C>A (p.His853Gln) c.2550C>A (p.His850Gln) c.2526C>A (p.His842Gln) c.2520C>A (p.His840Gln) c.2493C>A (p.His831Gln) c.2487C>A (p.His829Gln) c.2481C>A (p.His827Gln) c.2430C>A (p.His810Gln) c.2493+173C>A (n.2493+173C>A) c.2349C>A (p.His783Gln) c.2343C>A (p.His781Gln) c.2445+173C>A (n.2445+173C>A) c.2271C>A (p.His757Gln) c.2208+1424C>A (n.2208+1424C>A) c.1491C>A (p.His497Gln) n.2767C>A | |
17 | g.39725084C>G | CA399304330 | ERBB2 | c.2529C>G (p.His843Gln) c.2439C>G (p.His813Gln) c.1701C>G (p.His567Gln) c.2484C>G (p.His828Gln) c.*2319C>G (n.*2319C>G) c.635C>G n.3663C>G n.2853C>G c.2667C>G (p.His889Gln) c.2622C>G (p.His874Gln) c.2577C>G (p.His859Gln) c.2646C>G (p.His882Gln) c.2631C>G (p.His877Gln) c.2610C>G (p.His870Gln) c.2604C>G (p.His868Gln) c.2559C>G (p.His853Gln) c.2550C>G (p.His850Gln) c.2526C>G (p.His842Gln) c.2520C>G (p.His840Gln) c.2493C>G (p.His831Gln) c.2487C>G (p.His829Gln) c.2481C>G (p.His827Gln) c.2430C>G (p.His810Gln) c.2493+173C>G (n.2493+173C>G) c.2349C>G (p.His783Gln) c.2343C>G (p.His781Gln) c.2445+173C>G (n.2445+173C>G) c.2271C>G (p.His757Gln) c.2208+1424C>G (n.2208+1424C>G) c.1491C>G (p.His497Gln) n.2767C>G | dbSNP |
17 | g.39725084C>T | CA499890104 | ERBB2 | c.2529C>T (p.His843=) c.2439C>T (p.His813=) c.1701C>T (p.His567=) c.2484C>T (p.His828=) c.*2319C>T (n.*2319C>T) c.635C>T n.3663C>T n.2853C>T c.2667C>T (p.His889=) c.2622C>T (p.His874=) c.2577C>T (p.His859=) c.2646C>T (p.His882=) c.2631C>T (p.His877=) c.2610C>T (p.His870=) c.2604C>T (p.His868=) c.2559C>T (p.His853=) c.2550C>T (p.His850=) c.2526C>T (p.His842=) c.2520C>T (p.His840=) c.2493C>T (p.His831=) c.2487C>T (p.His829=) c.2481C>T (p.His827=) c.2430C>T (p.His810=) c.2493+173C>T (n.2493+173C>T) c.2349C>T (p.His783=) c.2343C>T (p.His781=) c.2445+173C>T (n.2445+173C>T) c.2271C>T (p.His757=) c.2208+1424C>T (n.2208+1424C>T) c.1491C>T (p.His497=) n.2767C>T | dbSNP gnomAD v4 |
17 | g.39725085A>C | CA499890105 | ERBB2 | c.2530A>C (p.Arg844=) c.2440A>C (p.Arg814=) c.1702A>C (p.Arg568=) c.2485A>C (p.Arg829=) c.*2320A>C (n.*2320A>C) c.636A>C n.3664A>C n.2854A>C c.2668A>C (p.Arg890=) c.2623A>C (p.Arg875=) c.2578A>C (p.Arg860=) c.2647A>C (p.Arg883=) c.2632A>C (p.Arg878=) c.2611A>C (p.Arg871=) c.2605A>C (p.Arg869=) c.2560A>C (p.Arg854=) c.2551A>C (p.Arg851=) c.2527A>C (p.Arg843=) c.2521A>C (p.Arg841=) c.2494A>C (p.Arg832=) c.2488A>C (p.Arg830=) c.2482A>C (p.Arg828=) c.2431A>C (p.Arg811=) c.2493+174A>C (n.2493+174A>C) c.2350A>C (p.Arg784=) c.2344A>C (p.Arg782=) c.2445+174A>C (n.2445+174A>C) c.2272A>C (p.Arg758=) c.2208+1425A>C (n.2208+1425A>C) c.1492A>C (p.Arg498=) n.2768A>C | |
17 | g.39725085A>G | CA399304333 | ERBB2 | c.2530A>G (p.Arg844Gly) c.2440A>G (p.Arg814Gly) c.1702A>G (p.Arg568Gly) c.2485A>G (p.Arg829Gly) c.*2320A>G (n.*2320A>G) c.636A>G n.3664A>G n.2854A>G c.2668A>G (p.Arg890Gly) c.2623A>G (p.Arg875Gly) c.2578A>G (p.Arg860Gly) c.2647A>G (p.Arg883Gly) c.2632A>G (p.Arg878Gly) c.2611A>G (p.Arg871Gly) c.2605A>G (p.Arg869Gly) c.2560A>G (p.Arg854Gly) c.2551A>G (p.Arg851Gly) c.2527A>G (p.Arg843Gly) c.2521A>G (p.Arg841Gly) c.2494A>G (p.Arg832Gly) c.2488A>G (p.Arg830Gly) c.2482A>G (p.Arg828Gly) c.2431A>G (p.Arg811Gly) c.2493+174A>G (n.2493+174A>G) c.2350A>G (p.Arg784Gly) c.2344A>G (p.Arg782Gly) c.2445+174A>G (n.2445+174A>G) c.2272A>G (p.Arg758Gly) c.2208+1425A>G (n.2208+1425A>G) c.1492A>G (p.Arg498Gly) n.2768A>G | dbSNP |
17 | g.39725085A>T | CA399304336 | ERBB2 | c.2530A>T (p.Arg844Trp) c.2440A>T (p.Arg814Trp) c.1702A>T (p.Arg568Trp) c.2485A>T (p.Arg829Trp) c.*2320A>T (n.*2320A>T) c.636A>T n.3664A>T n.2854A>T c.2668A>T (p.Arg890Trp) c.2623A>T (p.Arg875Trp) c.2578A>T (p.Arg860Trp) c.2647A>T (p.Arg883Trp) c.2632A>T (p.Arg878Trp) c.2611A>T (p.Arg871Trp) c.2605A>T (p.Arg869Trp) c.2560A>T (p.Arg854Trp) c.2551A>T (p.Arg851Trp) c.2527A>T (p.Arg843Trp) c.2521A>T (p.Arg841Trp) c.2494A>T (p.Arg832Trp) c.2488A>T (p.Arg830Trp) c.2482A>T (p.Arg828Trp) c.2431A>T (p.Arg811Trp) c.2493+174A>T (n.2493+174A>T) c.2350A>T (p.Arg784Trp) c.2344A>T (p.Arg782Trp) c.2445+174A>T (n.2445+174A>T) c.2272A>T (p.Arg758Trp) c.2208+1425A>T (n.2208+1425A>T) c.1492A>T (p.Arg498Trp) n.2768A>T | dbSNP |
17 | g.39725086G>A | CA399304344 | ERBB2 | c.2531G>A (p.Arg844Lys) c.2441G>A (p.Arg814Lys) c.1703G>A (p.Arg568Lys) c.2486G>A (p.Arg829Lys) c.*2321G>A (n.*2321G>A) c.637G>A n.3665G>A n.2855G>A c.2669G>A (p.Arg890Lys) c.2624G>A (p.Arg875Lys) c.2579G>A (p.Arg860Lys) c.2648G>A (p.Arg883Lys) c.2633G>A (p.Arg878Lys) c.2612G>A (p.Arg871Lys) c.2606G>A (p.Arg869Lys) c.2561G>A (p.Arg854Lys) c.2552G>A (p.Arg851Lys) c.2528G>A (p.Arg843Lys) c.2522G>A (p.Arg841Lys) c.2495G>A (p.Arg832Lys) c.2489G>A (p.Arg830Lys) c.2483G>A (p.Arg828Lys) c.2432G>A (p.Arg811Lys) c.2493+175G>A (n.2493+175G>A) c.2351G>A (p.Arg784Lys) c.2345G>A (p.Arg782Lys) c.2445+175G>A (n.2445+175G>A) c.2273G>A (p.Arg758Lys) c.2208+1426G>A (n.2208+1426G>A) c.1493G>A (p.Arg498Lys) n.2769G>A | dbSNP |
17 | g.39725086G>C | CA399304346 | ERBB2 | c.2531G>C (p.Arg844Thr) c.2441G>C (p.Arg814Thr) c.1703G>C (p.Arg568Thr) c.2486G>C (p.Arg829Thr) c.*2321G>C (n.*2321G>C) c.637G>C n.3665G>C n.2855G>C c.2669G>C (p.Arg890Thr) c.2624G>C (p.Arg875Thr) c.2579G>C (p.Arg860Thr) c.2648G>C (p.Arg883Thr) c.2633G>C (p.Arg878Thr) c.2612G>C (p.Arg871Thr) c.2606G>C (p.Arg869Thr) c.2561G>C (p.Arg854Thr) c.2552G>C (p.Arg851Thr) c.2528G>C (p.Arg843Thr) c.2522G>C (p.Arg841Thr) c.2495G>C (p.Arg832Thr) c.2489G>C (p.Arg830Thr) c.2483G>C (p.Arg828Thr) c.2432G>C (p.Arg811Thr) c.2493+175G>C (n.2493+175G>C) c.2351G>C (p.Arg784Thr) c.2345G>C (p.Arg782Thr) c.2445+175G>C (n.2445+175G>C) c.2273G>C (p.Arg758Thr) c.2208+1426G>C (n.2208+1426G>C) c.1493G>C (p.Arg498Thr) n.2769G>C | dbSNP |
17 | g.39725086G>T | CA399304348 | ERBB2 | c.2531G>T (p.Arg844Met) c.2441G>T (p.Arg814Met) c.1703G>T (p.Arg568Met) c.2486G>T (p.Arg829Met) c.*2321G>T (n.*2321G>T) c.637G>T n.3665G>T n.2855G>T c.2669G>T (p.Arg890Met) c.2624G>T (p.Arg875Met) c.2579G>T (p.Arg860Met) c.2648G>T (p.Arg883Met) c.2633G>T (p.Arg878Met) c.2612G>T (p.Arg871Met) c.2606G>T (p.Arg869Met) c.2561G>T (p.Arg854Met) c.2552G>T (p.Arg851Met) c.2528G>T (p.Arg843Met) c.2522G>T (p.Arg841Met) c.2495G>T (p.Arg832Met) c.2489G>T (p.Arg830Met) c.2483G>T (p.Arg828Met) c.2432G>T (p.Arg811Met) c.2493+175G>T (n.2493+175G>T) c.2351G>T (p.Arg784Met) c.2345G>T (p.Arg782Met) c.2445+175G>T (n.2445+175G>T) c.2273G>T (p.Arg758Met) c.2208+1426G>T (n.2208+1426G>T) c.1493G>T (p.Arg498Met) n.2769G>T | dbSNP |
17 | g.39725087G>A | CA499890106 | ERBB2 | c.2532G>A (p.Arg844=) c.2442G>A (p.Arg814=) c.1704G>A (p.Arg568=) c.2487G>A (p.Arg829=) c.*2322G>A (n.*2322G>A) c.638G>A n.3666G>A n.2856G>A c.2670G>A (p.Arg890=) c.2625G>A (p.Arg875=) c.2580G>A (p.Arg860=) c.2649G>A (p.Arg883=) c.2634G>A (p.Arg878=) c.2613G>A (p.Arg871=) c.2607G>A (p.Arg869=) c.2562G>A (p.Arg854=) c.2553G>A (p.Arg851=) c.2529G>A (p.Arg843=) c.2523G>A (p.Arg841=) c.2496G>A (p.Arg832=) c.2490G>A (p.Arg830=) c.2484G>A (p.Arg828=) c.2433G>A (p.Arg811=) c.2493+176G>A (n.2493+176G>A) c.2352G>A (p.Arg784=) c.2346G>A (p.Arg782=) c.2445+176G>A (n.2445+176G>A) c.2274G>A (p.Arg758=) c.2208+1427G>A (n.2208+1427G>A) c.1494G>A (p.Arg498=) n.2770G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39725087G>C | CA399304352 | ERBB2 | c.2532G>C (p.Arg844Ser) c.2442G>C (p.Arg814Ser) c.1704G>C (p.Arg568Ser) c.2487G>C (p.Arg829Ser) c.*2322G>C (n.*2322G>C) c.638G>C n.3666G>C n.2856G>C c.2670G>C (p.Arg890Ser) c.2625G>C (p.Arg875Ser) c.2580G>C (p.Arg860Ser) c.2649G>C (p.Arg883Ser) c.2634G>C (p.Arg878Ser) c.2613G>C (p.Arg871Ser) c.2607G>C (p.Arg869Ser) c.2562G>C (p.Arg854Ser) c.2553G>C (p.Arg851Ser) c.2529G>C (p.Arg843Ser) c.2523G>C (p.Arg841Ser) c.2496G>C (p.Arg832Ser) c.2490G>C (p.Arg830Ser) c.2484G>C (p.Arg828Ser) c.2433G>C (p.Arg811Ser) c.2493+176G>C (n.2493+176G>C) c.2352G>C (p.Arg784Ser) c.2346G>C (p.Arg782Ser) c.2445+176G>C (n.2445+176G>C) c.2274G>C (p.Arg758Ser) c.2208+1427G>C (n.2208+1427G>C) c.1494G>C (p.Arg498Ser) n.2770G>C | dbSNP |
17 | g.39725087G= | CA2259228129 | ERBB2 | c.2532G= (p.Arg844=) c.2442G= (p.Arg814=) c.1704G= (p.Arg568=) c.2487G= (p.Arg829=) c.*2322G= (n.*2322G=) c.638G= n.3666G= n.2856G= c.2670G= (p.Arg890=) c.2625G= (p.Arg875=) c.2580G= (p.Arg860=) c.2649G= (p.Arg883=) c.2634G= (p.Arg878=) c.2613G= (p.Arg871=) c.2607G= (p.Arg869=) c.2562G= (p.Arg854=) c.2553G= (p.Arg851=) c.2529G= (p.Arg843=) c.2523G= (p.Arg841=) c.2496G= (p.Arg832=) c.2490G= (p.Arg830=) c.2484G= (p.Arg828=) c.2433G= (p.Arg811=) c.2493+176G= (n.2493+176G=) c.2352G= (p.Arg784=) c.2346G= (p.Arg782=) c.2445+176G= (n.2445+176G=) c.2274G= (p.Arg758=) c.2208+1427G= (n.2208+1427G=) c.1494G= (p.Arg498=) n.2770G= | |
17 | g.39725087G>T | CA399304356 | ERBB2 | c.2532G>T (p.Arg844Ser) c.2442G>T (p.Arg814Ser) c.1704G>T (p.Arg568Ser) c.2487G>T (p.Arg829Ser) c.*2322G>T (n.*2322G>T) c.638G>T n.3666G>T n.2856G>T c.2670G>T (p.Arg890Ser) c.2625G>T (p.Arg875Ser) c.2580G>T (p.Arg860Ser) c.2649G>T (p.Arg883Ser) c.2634G>T (p.Arg878Ser) c.2613G>T (p.Arg871Ser) c.2607G>T (p.Arg869Ser) c.2562G>T (p.Arg854Ser) c.2553G>T (p.Arg851Ser) c.2529G>T (p.Arg843Ser) c.2523G>T (p.Arg841Ser) c.2496G>T (p.Arg832Ser) c.2490G>T (p.Arg830Ser) c.2484G>T (p.Arg828Ser) c.2433G>T (p.Arg811Ser) c.2493+176G>T (n.2493+176G>T) c.2352G>T (p.Arg784Ser) c.2346G>T (p.Arg782Ser) c.2445+176G>T (n.2445+176G>T) c.2274G>T (p.Arg758Ser) c.2208+1427G>T (n.2208+1427G>T) c.1494G>T (p.Arg498Ser) n.2770G>T | dbSNP |
17 | g.39725088G>A | CA399304365 | ERBB2 | c.2533G>A (p.Asp845Asn) c.2443G>A (p.Asp815Asn) c.1705G>A (p.Asp569Asn) c.2488G>A (p.Asp830Asn) c.*2323G>A (n.*2323G>A) c.639G>A n.3667G>A n.2857G>A c.2671G>A (p.Asp891Asn) c.2626G>A (p.Asp876Asn) c.2581G>A (p.Asp861Asn) c.2650G>A (p.Asp884Asn) c.2635G>A (p.Asp879Asn) c.2614G>A (p.Asp872Asn) c.2608G>A (p.Asp870Asn) c.2563G>A (p.Asp855Asn) c.2554G>A (p.Asp852Asn) c.2530G>A (p.Asp844Asn) c.2524G>A (p.Asp842Asn) c.2497G>A (p.Asp833Asn) c.2491G>A (p.Asp831Asn) c.2485G>A (p.Asp829Asn) c.2434G>A (p.Asp812Asn) c.2493+177G>A (n.2493+177G>A) c.2353G>A (p.Asp785Asn) c.2347G>A (p.Asp783Asn) c.2445+177G>A (n.2445+177G>A) c.2275G>A (p.Asp759Asn) c.2208+1428G>A (n.2208+1428G>A) c.1495G>A (p.Asp499Asn) n.2771G>A | dbSNP |
17 | g.39725088G>C | CA399304367 | ERBB2 | c.2533G>C (p.Asp845His) c.2443G>C (p.Asp815His) c.1705G>C (p.Asp569His) c.2488G>C (p.Asp830His) c.*2323G>C (n.*2323G>C) c.639G>C n.3667G>C n.2857G>C c.2671G>C (p.Asp891His) c.2626G>C (p.Asp876His) c.2581G>C (p.Asp861His) c.2650G>C (p.Asp884His) c.2635G>C (p.Asp879His) c.2614G>C (p.Asp872His) c.2608G>C (p.Asp870His) c.2563G>C (p.Asp855His) c.2554G>C (p.Asp852His) c.2530G>C (p.Asp844His) c.2524G>C (p.Asp842His) c.2497G>C (p.Asp833His) c.2491G>C (p.Asp831His) c.2485G>C (p.Asp829His) c.2434G>C (p.Asp812His) c.2493+177G>C (n.2493+177G>C) c.2353G>C (p.Asp785His) c.2347G>C (p.Asp783His) c.2445+177G>C (n.2445+177G>C) c.2275G>C (p.Asp759His) c.2208+1428G>C (n.2208+1428G>C) c.1495G>C (p.Asp499His) n.2771G>C | dbSNP |
17 | g.39725088G>T | CA399304361 | ERBB2 | c.2533G>T (p.Asp845Tyr) c.2443G>T (p.Asp815Tyr) c.1705G>T (p.Asp569Tyr) c.2488G>T (p.Asp830Tyr) c.*2323G>T (n.*2323G>T) c.639G>T n.3667G>T n.2857G>T c.2671G>T (p.Asp891Tyr) c.2626G>T (p.Asp876Tyr) c.2581G>T (p.Asp861Tyr) c.2650G>T (p.Asp884Tyr) c.2635G>T (p.Asp879Tyr) c.2614G>T (p.Asp872Tyr) c.2608G>T (p.Asp870Tyr) c.2563G>T (p.Asp855Tyr) c.2554G>T (p.Asp852Tyr) c.2530G>T (p.Asp844Tyr) c.2524G>T (p.Asp842Tyr) c.2497G>T (p.Asp833Tyr) c.2491G>T (p.Asp831Tyr) c.2485G>T (p.Asp829Tyr) c.2434G>T (p.Asp812Tyr) c.2493+177G>T (n.2493+177G>T) c.2353G>T (p.Asp785Tyr) c.2347G>T (p.Asp783Tyr) c.2445+177G>T (n.2445+177G>T) c.2275G>T (p.Asp759Tyr) c.2208+1428G>T (n.2208+1428G>T) c.1495G>T (p.Asp499Tyr) n.2771G>T | dbSNP |
17 | g.39725089A>C | CA399304373 | ERBB2 | c.2534A>C (p.Asp845Ala) c.2444A>C (p.Asp815Ala) c.1706A>C (p.Asp569Ala) c.2489A>C (p.Asp830Ala) c.*2324A>C (n.*2324A>C) c.640A>C n.3668A>C n.2858A>C c.2672A>C (p.Asp891Ala) c.2627A>C (p.Asp876Ala) c.2582A>C (p.Asp861Ala) c.2651A>C (p.Asp884Ala) c.2636A>C (p.Asp879Ala) c.2615A>C (p.Asp872Ala) c.2609A>C (p.Asp870Ala) c.2564A>C (p.Asp855Ala) c.2555A>C (p.Asp852Ala) c.2531A>C (p.Asp844Ala) c.2525A>C (p.Asp842Ala) c.2498A>C (p.Asp833Ala) c.2492A>C (p.Asp831Ala) c.2486A>C (p.Asp829Ala) c.2435A>C (p.Asp812Ala) c.2493+178A>C (n.2493+178A>C) c.2354A>C (p.Asp785Ala) c.2348A>C (p.Asp783Ala) c.2445+178A>C (n.2445+178A>C) c.2276A>C (p.Asp759Ala) c.2208+1429A>C (n.2208+1429A>C) c.1496A>C (p.Asp499Ala) n.2772A>C | |
17 | g.39725089A>G | CA399304371 | ERBB2 | c.2534A>G (p.Asp845Gly) c.2444A>G (p.Asp815Gly) c.1706A>G (p.Asp569Gly) c.2489A>G (p.Asp830Gly) c.*2324A>G (n.*2324A>G) c.640A>G n.3668A>G n.2858A>G c.2672A>G (p.Asp891Gly) c.2627A>G (p.Asp876Gly) c.2582A>G (p.Asp861Gly) c.2651A>G (p.Asp884Gly) c.2636A>G (p.Asp879Gly) c.2615A>G (p.Asp872Gly) c.2609A>G (p.Asp870Gly) c.2564A>G (p.Asp855Gly) c.2555A>G (p.Asp852Gly) c.2531A>G (p.Asp844Gly) c.2525A>G (p.Asp842Gly) c.2498A>G (p.Asp833Gly) c.2492A>G (p.Asp831Gly) c.2486A>G (p.Asp829Gly) c.2435A>G (p.Asp812Gly) c.2493+178A>G (n.2493+178A>G) c.2354A>G (p.Asp785Gly) c.2348A>G (p.Asp783Gly) c.2445+178A>G (n.2445+178A>G) c.2276A>G (p.Asp759Gly) c.2208+1429A>G (n.2208+1429A>G) c.1496A>G (p.Asp499Gly) n.2772A>G | |
17 | g.39725089A>T | CA399304372 | ERBB2 | c.2534A>T (p.Asp845Val) c.2444A>T (p.Asp815Val) c.1706A>T (p.Asp569Val) c.2489A>T (p.Asp830Val) c.*2324A>T (n.*2324A>T) c.640A>T n.3668A>T n.2858A>T c.2672A>T (p.Asp891Val) c.2627A>T (p.Asp876Val) c.2582A>T (p.Asp861Val) c.2651A>T (p.Asp884Val) c.2636A>T (p.Asp879Val) c.2615A>T (p.Asp872Val) c.2609A>T (p.Asp870Val) c.2564A>T (p.Asp855Val) c.2555A>T (p.Asp852Val) c.2531A>T (p.Asp844Val) c.2525A>T (p.Asp842Val) c.2498A>T (p.Asp833Val) c.2492A>T (p.Asp831Val) c.2486A>T (p.Asp829Val) c.2435A>T (p.Asp812Val) c.2493+178A>T (n.2493+178A>T) c.2354A>T (p.Asp785Val) c.2348A>T (p.Asp783Val) c.2445+178A>T (n.2445+178A>T) c.2276A>T (p.Asp759Val) c.2208+1429A>T (n.2208+1429A>T) c.1496A>T (p.Asp499Val) n.2772A>T | |
17 | g.39725090C>A | CA399304374 | ERBB2 | c.2535C>A (p.Asp845Glu) c.2445C>A (p.Asp815Glu) c.1707C>A (p.Asp569Glu) c.2490C>A (p.Asp830Glu) c.*2325C>A (n.*2325C>A) c.641C>A n.3669C>A n.2859C>A c.2673C>A (p.Asp891Glu) c.2628C>A (p.Asp876Glu) c.2583C>A (p.Asp861Glu) c.2652C>A (p.Asp884Glu) c.2637C>A (p.Asp879Glu) c.2616C>A (p.Asp872Glu) c.2610C>A (p.Asp870Glu) c.2565C>A (p.Asp855Glu) c.2556C>A (p.Asp852Glu) c.2532C>A (p.Asp844Glu) c.2526C>A (p.Asp842Glu) c.2499C>A (p.Asp833Glu) c.2493C>A (p.Asp831Glu) c.2487C>A (p.Asp829Glu) c.2436C>A (p.Asp812Glu) c.2493+179C>A (n.2493+179C>A) c.2355C>A (p.Asp785Glu) c.2349C>A (p.Asp783Glu) c.2445+179C>A (n.2445+179C>A) c.2277C>A (p.Asp759Glu) c.2208+1430C>A (n.2208+1430C>A) c.1497C>A (p.Asp499Glu) n.2773C>A | dbSNP |
17 | g.39725090C= | CA2259228130 | ERBB2 | c.2535C= (p.Asp845=) c.2445C= (p.Asp815=) c.1707C= (p.Asp569=) c.2490C= (p.Asp830=) c.*2325C= (n.*2325C=) c.641C= n.3669C= n.2859C= c.2673C= (p.Asp891=) c.2628C= (p.Asp876=) c.2583C= (p.Asp861=) c.2652C= (p.Asp884=) c.2637C= (p.Asp879=) c.2616C= (p.Asp872=) c.2610C= (p.Asp870=) c.2565C= (p.Asp855=) c.2556C= (p.Asp852=) c.2532C= (p.Asp844=) c.2526C= (p.Asp842=) c.2499C= (p.Asp833=) c.2493C= (p.Asp831=) c.2487C= (p.Asp829=) c.2436C= (p.Asp812=) c.2493+179C= (n.2493+179C=) c.2355C= (p.Asp785=) c.2349C= (p.Asp783=) c.2445+179C= (n.2445+179C=) c.2277C= (p.Asp759=) c.2208+1430C= (n.2208+1430C=) c.1497C= (p.Asp499=) n.2773C= | |
17 | g.39725090C>G | CA399304377 | ERBB2 | c.2535C>G (p.Asp845Glu) c.2445C>G (p.Asp815Glu) c.1707C>G (p.Asp569Glu) c.2490C>G (p.Asp830Glu) c.*2325C>G (n.*2325C>G) c.641C>G n.3669C>G n.2859C>G c.2673C>G (p.Asp891Glu) c.2628C>G (p.Asp876Glu) c.2583C>G (p.Asp861Glu) c.2652C>G (p.Asp884Glu) c.2637C>G (p.Asp879Glu) c.2616C>G (p.Asp872Glu) c.2610C>G (p.Asp870Glu) c.2565C>G (p.Asp855Glu) c.2556C>G (p.Asp852Glu) c.2532C>G (p.Asp844Glu) c.2526C>G (p.Asp842Glu) c.2499C>G (p.Asp833Glu) c.2493C>G (p.Asp831Glu) c.2487C>G (p.Asp829Glu) c.2436C>G (p.Asp812Glu) c.2493+179C>G (n.2493+179C>G) c.2355C>G (p.Asp785Glu) c.2349C>G (p.Asp783Glu) c.2445+179C>G (n.2445+179C>G) c.2277C>G (p.Asp759Glu) c.2208+1430C>G (n.2208+1430C>G) c.1497C>G (p.Asp499Glu) n.2773C>G | dbSNP gnomAD v4 |
17 | g.39725090C>T | CA269884 | ERBB2 | c.2535C>T (p.Asp845=) c.2445C>T (p.Asp815=) c.1707C>T (p.Asp569=) c.2490C>T (p.Asp830=) c.*2325C>T (n.*2325C>T) c.641C>T n.3669C>T n.2859C>T c.2673C>T (p.Asp891=) c.2628C>T (p.Asp876=) c.2583C>T (p.Asp861=) c.2652C>T (p.Asp884=) c.2637C>T (p.Asp879=) c.2616C>T (p.Asp872=) c.2610C>T (p.Asp870=) c.2565C>T (p.Asp855=) c.2556C>T (p.Asp852=) c.2532C>T (p.Asp844=) c.2526C>T (p.Asp842=) c.2499C>T (p.Asp833=) c.2493C>T (p.Asp831=) c.2487C>T (p.Asp829=) c.2436C>T (p.Asp812=) c.2493+179C>T (n.2493+179C>T) c.2355C>T (p.Asp785=) c.2349C>T (p.Asp783=) c.2445+179C>T (n.2445+179C>T) c.2277C>T (p.Asp759=) c.2208+1430C>T (n.2208+1430C>T) c.1497C>T (p.Asp499=) n.2773C>T | ClinVar dbSNP |
17 | g.39725091T>A | CA399304387 | ERBB2 | c.2536T>A (p.Leu846Met) c.2446T>A (p.Leu816Met) c.1708T>A (p.Leu570Met) c.2491T>A (p.Leu831Met) c.*2326T>A (n.*2326T>A) c.642T>A n.3670T>A n.2860T>A c.2674T>A (p.Leu892Met) c.2629T>A (p.Leu877Met) c.2584T>A (p.Leu862Met) c.2653T>A (p.Leu885Met) c.2638T>A (p.Leu880Met) c.2617T>A (p.Leu873Met) c.2611T>A (p.Leu871Met) c.2566T>A (p.Leu856Met) c.2557T>A (p.Leu853Met) c.2533T>A (p.Leu845Met) c.2527T>A (p.Leu843Met) c.2500T>A (p.Leu834Met) c.2494T>A (p.Leu832Met) c.2488T>A (p.Leu830Met) c.2437T>A (p.Leu813Met) c.2493+180T>A (n.2493+180T>A) c.2356T>A (p.Leu786Met) c.2350T>A (p.Leu784Met) c.2445+180T>A (n.2445+180T>A) c.2278T>A (p.Leu760Met) c.2208+1431T>A (n.2208+1431T>A) c.1498T>A (p.Leu500Met) n.2774T>A | dbSNP |
17 | g.39725091T>C | CA8534324 | ERBB2 | c.2536T>C (p.Leu846=) c.2446T>C (p.Leu816=) c.1708T>C (p.Leu570=) c.2491T>C (p.Leu831=) c.*2326T>C (n.*2326T>C) c.642T>C n.3670T>C n.2860T>C c.2674T>C (p.Leu892=) c.2629T>C (p.Leu877=) c.2584T>C (p.Leu862=) c.2653T>C (p.Leu885=) c.2638T>C (p.Leu880=) c.2617T>C (p.Leu873=) c.2611T>C (p.Leu871=) c.2566T>C (p.Leu856=) c.2557T>C (p.Leu853=) c.2533T>C (p.Leu845=) c.2527T>C (p.Leu843=) c.2500T>C (p.Leu834=) c.2494T>C (p.Leu832=) c.2488T>C (p.Leu830=) c.2437T>C (p.Leu813=) c.2493+180T>C (n.2493+180T>C) c.2356T>C (p.Leu786=) c.2350T>C (p.Leu784=) c.2445+180T>C (n.2445+180T>C) c.2278T>C (p.Leu760=) c.2208+1431T>C (n.2208+1431T>C) c.1498T>C (p.Leu500=) n.2774T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725091T>G | CA399304389 | ERBB2 | c.2536T>G (p.Leu846Val) c.2446T>G (p.Leu816Val) c.1708T>G (p.Leu570Val) c.2491T>G (p.Leu831Val) c.*2326T>G (n.*2326T>G) c.642T>G n.3670T>G n.2860T>G c.2674T>G (p.Leu892Val) c.2629T>G (p.Leu877Val) c.2584T>G (p.Leu862Val) c.2653T>G (p.Leu885Val) c.2638T>G (p.Leu880Val) c.2617T>G (p.Leu873Val) c.2611T>G (p.Leu871Val) c.2566T>G (p.Leu856Val) c.2557T>G (p.Leu853Val) c.2533T>G (p.Leu845Val) c.2527T>G (p.Leu843Val) c.2500T>G (p.Leu834Val) c.2494T>G (p.Leu832Val) c.2488T>G (p.Leu830Val) c.2437T>G (p.Leu813Val) c.2493+180T>G (n.2493+180T>G) c.2356T>G (p.Leu786Val) c.2350T>G (p.Leu784Val) c.2445+180T>G (n.2445+180T>G) c.2278T>G (p.Leu760Val) c.2208+1431T>G (n.2208+1431T>G) c.1498T>G (p.Leu500Val) n.2774T>G | |
17 | g.39725091T= | CA2259228131 | ERBB2 | c.2536T= (p.Leu846=) c.2446T= (p.Leu816=) c.1708T= (p.Leu570=) c.2491T= (p.Leu831=) c.*2326T= (n.*2326T=) c.642T= n.3670T= n.2860T= c.2674T= (p.Leu892=) c.2629T= (p.Leu877=) c.2584T= (p.Leu862=) c.2653T= (p.Leu885=) c.2638T= (p.Leu880=) c.2617T= (p.Leu873=) c.2611T= (p.Leu871=) c.2566T= (p.Leu856=) c.2557T= (p.Leu853=) c.2533T= (p.Leu845=) c.2527T= (p.Leu843=) c.2500T= (p.Leu834=) c.2494T= (p.Leu832=) c.2488T= (p.Leu830=) c.2437T= (p.Leu813=) c.2493+180T= (n.2493+180T=) c.2356T= (p.Leu786=) c.2350T= (p.Leu784=) c.2445+180T= (n.2445+180T=) c.2278T= (p.Leu760=) c.2208+1431T= (n.2208+1431T=) c.1498T= (p.Leu500=) n.2774T= | |
17 | g.39725092T>A | CA399304392 | ERBB2 | c.2537T>A (p.Leu846Ter) c.2447T>A (p.Leu816Ter) c.1709T>A (p.Leu570Ter) c.2492T>A (p.Leu831Ter) c.*2327T>A (n.*2327T>A) c.643T>A n.3671T>A n.2861T>A c.2675T>A (p.Leu892Ter) c.2630T>A (p.Leu877Ter) c.2585T>A (p.Leu862Ter) c.2654T>A (p.Leu885Ter) c.2639T>A (p.Leu880Ter) c.2618T>A (p.Leu873Ter) c.2612T>A (p.Leu871Ter) c.2567T>A (p.Leu856Ter) c.2558T>A (p.Leu853Ter) c.2534T>A (p.Leu845Ter) c.2528T>A (p.Leu843Ter) c.2501T>A (p.Leu834Ter) c.2495T>A (p.Leu832Ter) c.2489T>A (p.Leu830Ter) c.2438T>A (p.Leu813Ter) c.2493+181T>A (n.2493+181T>A) c.2357T>A (p.Leu786Ter) c.2351T>A (p.Leu784Ter) c.2445+181T>A (n.2445+181T>A) c.2279T>A (p.Leu760Ter) c.2208+1432T>A (n.2208+1432T>A) c.1499T>A (p.Leu500Ter) n.2775T>A | |
17 | g.39725092T>C | CA399304393 | ERBB2 | c.2537T>C (p.Leu846Ser) c.2447T>C (p.Leu816Ser) c.1709T>C (p.Leu570Ser) c.2492T>C (p.Leu831Ser) c.*2327T>C (n.*2327T>C) c.643T>C n.3671T>C n.2861T>C c.2675T>C (p.Leu892Ser) c.2630T>C (p.Leu877Ser) c.2585T>C (p.Leu862Ser) c.2654T>C (p.Leu885Ser) c.2639T>C (p.Leu880Ser) c.2618T>C (p.Leu873Ser) c.2612T>C (p.Leu871Ser) c.2567T>C (p.Leu856Ser) c.2558T>C (p.Leu853Ser) c.2534T>C (p.Leu845Ser) c.2528T>C (p.Leu843Ser) c.2501T>C (p.Leu834Ser) c.2495T>C (p.Leu832Ser) c.2489T>C (p.Leu830Ser) c.2438T>C (p.Leu813Ser) c.2493+181T>C (n.2493+181T>C) c.2357T>C (p.Leu786Ser) c.2351T>C (p.Leu784Ser) c.2445+181T>C (n.2445+181T>C) c.2279T>C (p.Leu760Ser) c.2208+1432T>C (n.2208+1432T>C) c.1499T>C (p.Leu500Ser) n.2775T>C | |
17 | g.39725092T>G | CA399304395 | ERBB2 | c.2537T>G (p.Leu846Trp) c.2447T>G (p.Leu816Trp) c.1709T>G (p.Leu570Trp) c.2492T>G (p.Leu831Trp) c.*2327T>G (n.*2327T>G) c.643T>G n.3671T>G n.2861T>G c.2675T>G (p.Leu892Trp) c.2630T>G (p.Leu877Trp) c.2585T>G (p.Leu862Trp) c.2654T>G (p.Leu885Trp) c.2639T>G (p.Leu880Trp) c.2618T>G (p.Leu873Trp) c.2612T>G (p.Leu871Trp) c.2567T>G (p.Leu856Trp) c.2558T>G (p.Leu853Trp) c.2534T>G (p.Leu845Trp) c.2528T>G (p.Leu843Trp) c.2501T>G (p.Leu834Trp) c.2495T>G (p.Leu832Trp) c.2489T>G (p.Leu830Trp) c.2438T>G (p.Leu813Trp) c.2493+181T>G (n.2493+181T>G) c.2357T>G (p.Leu786Trp) c.2351T>G (p.Leu784Trp) c.2445+181T>G (n.2445+181T>G) c.2279T>G (p.Leu760Trp) c.2208+1432T>G (n.2208+1432T>G) c.1499T>G (p.Leu500Trp) n.2775T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39725092T= | CA2259228132 | ERBB2 | c.2537T= (p.Leu846=) c.2447T= (p.Leu816=) c.1709T= (p.Leu570=) c.2492T= (p.Leu831=) c.*2327T= (n.*2327T=) c.643T= n.3671T= n.2861T= c.2675T= (p.Leu892=) c.2630T= (p.Leu877=) c.2585T= (p.Leu862=) c.2654T= (p.Leu885=) c.2639T= (p.Leu880=) c.2618T= (p.Leu873=) c.2612T= (p.Leu871=) c.2567T= (p.Leu856=) c.2558T= (p.Leu853=) c.2534T= (p.Leu845=) c.2528T= (p.Leu843=) c.2501T= (p.Leu834=) c.2495T= (p.Leu832=) c.2489T= (p.Leu830=) c.2438T= (p.Leu813=) c.2493+181T= (n.2493+181T=) c.2357T= (p.Leu786=) c.2351T= (p.Leu784=) c.2445+181T= (n.2445+181T=) c.2279T= (p.Leu760=) c.2208+1432T= (n.2208+1432T=) c.1499T= (p.Leu500=) n.2775T= | |
17 | g.39725093G>A | CA499890112 | ERBB2 | c.2538G>A (p.Leu846=) c.2448G>A (p.Leu816=) c.1710G>A (p.Leu570=) c.2493G>A (p.Leu831=) c.*2328G>A (n.*2328G>A) c.644G>A n.3672G>A n.2862G>A c.2676G>A (p.Leu892=) c.2631G>A (p.Leu877=) c.2586G>A (p.Leu862=) c.2655G>A (p.Leu885=) c.2640G>A (p.Leu880=) c.2619G>A (p.Leu873=) c.2613G>A (p.Leu871=) c.2568G>A (p.Leu856=) c.2559G>A (p.Leu853=) c.2535G>A (p.Leu845=) c.2529G>A (p.Leu843=) c.2502G>A (p.Leu834=) c.2496G>A (p.Leu832=) c.2490G>A (p.Leu830=) c.2439G>A (p.Leu813=) c.2493+182G>A (n.2493+182G>A) c.2358G>A (p.Leu786=) c.2352G>A (p.Leu784=) c.2445+182G>A (n.2445+182G>A) c.2280G>A (p.Leu760=) c.2208+1433G>A (n.2208+1433G>A) c.1500G>A (p.Leu500=) n.2776G>A | dbSNP |
17 | g.39725093G>C | CA399304397 | ERBB2 | c.2538G>C (p.Leu846Phe) c.2448G>C (p.Leu816Phe) c.1710G>C (p.Leu570Phe) c.2493G>C (p.Leu831Phe) c.*2328G>C (n.*2328G>C) c.644G>C n.3672G>C n.2862G>C c.2676G>C (p.Leu892Phe) c.2631G>C (p.Leu877Phe) c.2586G>C (p.Leu862Phe) c.2655G>C (p.Leu885Phe) c.2640G>C (p.Leu880Phe) c.2619G>C (p.Leu873Phe) c.2613G>C (p.Leu871Phe) c.2568G>C (p.Leu856Phe) c.2559G>C (p.Leu853Phe) c.2535G>C (p.Leu845Phe) c.2529G>C (p.Leu843Phe) c.2502G>C (p.Leu834Phe) c.2496G>C (p.Leu832Phe) c.2490G>C (p.Leu830Phe) c.2439G>C (p.Leu813Phe) c.2493+182G>C (n.2493+182G>C) c.2358G>C (p.Leu786Phe) c.2352G>C (p.Leu784Phe) c.2445+182G>C (n.2445+182G>C) c.2280G>C (p.Leu760Phe) c.2208+1433G>C (n.2208+1433G>C) c.1500G>C (p.Leu500Phe) n.2776G>C | dbSNP |
17 | g.39725093G>T | CA399304398 | ERBB2 | c.2538G>T (p.Leu846Phe) c.2448G>T (p.Leu816Phe) c.1710G>T (p.Leu570Phe) c.2493G>T (p.Leu831Phe) c.*2328G>T (n.*2328G>T) c.644G>T n.3672G>T n.2862G>T c.2676G>T (p.Leu892Phe) c.2631G>T (p.Leu877Phe) c.2586G>T (p.Leu862Phe) c.2655G>T (p.Leu885Phe) c.2640G>T (p.Leu880Phe) c.2619G>T (p.Leu873Phe) c.2613G>T (p.Leu871Phe) c.2568G>T (p.Leu856Phe) c.2559G>T (p.Leu853Phe) c.2535G>T (p.Leu845Phe) c.2529G>T (p.Leu843Phe) c.2502G>T (p.Leu834Phe) c.2496G>T (p.Leu832Phe) c.2490G>T (p.Leu830Phe) c.2439G>T (p.Leu813Phe) c.2493+182G>T (n.2493+182G>T) c.2358G>T (p.Leu786Phe) c.2352G>T (p.Leu784Phe) c.2445+182G>T (n.2445+182G>T) c.2280G>T (p.Leu760Phe) c.2208+1433G>T (n.2208+1433G>T) c.1500G>T (p.Leu500Phe) n.2776G>T | dbSNP COSMIC COSMIC |
17 | g.39725094G>A | CA399304406 | ERBB2 | c.2539G>A (p.Ala847Thr) c.2449G>A (p.Ala817Thr) c.1711G>A (p.Ala571Thr) c.2494G>A (p.Ala832Thr) c.*2329G>A (n.*2329G>A) c.645G>A n.3673G>A n.2863G>A c.2677G>A (p.Ala893Thr) c.2632G>A (p.Ala878Thr) c.2587G>A (p.Ala863Thr) c.2656G>A (p.Ala886Thr) c.2641G>A (p.Ala881Thr) c.2620G>A (p.Ala874Thr) c.2614G>A (p.Ala872Thr) c.2569G>A (p.Ala857Thr) c.2560G>A (p.Ala854Thr) c.2536G>A (p.Ala846Thr) c.2530G>A (p.Ala844Thr) c.2503G>A (p.Ala835Thr) c.2497G>A (p.Ala833Thr) c.2491G>A (p.Ala831Thr) c.2440G>A (p.Ala814Thr) c.2493+183G>A (n.2493+183G>A) c.2359G>A (p.Ala787Thr) c.2353G>A (p.Ala785Thr) c.2445+183G>A (n.2445+183G>A) c.2281G>A (p.Ala761Thr) c.2208+1434G>A (n.2208+1434G>A) c.1501G>A (p.Ala501Thr) n.2777G>A | dbSNP |
17 | g.39725094G>C | CA399304401 | ERBB2 | c.2539G>C (p.Ala847Pro) c.2449G>C (p.Ala817Pro) c.1711G>C (p.Ala571Pro) c.2494G>C (p.Ala832Pro) c.*2329G>C (n.*2329G>C) c.645G>C n.3673G>C n.2863G>C c.2677G>C (p.Ala893Pro) c.2632G>C (p.Ala878Pro) c.2587G>C (p.Ala863Pro) c.2656G>C (p.Ala886Pro) c.2641G>C (p.Ala881Pro) c.2620G>C (p.Ala874Pro) c.2614G>C (p.Ala872Pro) c.2569G>C (p.Ala857Pro) c.2560G>C (p.Ala854Pro) c.2536G>C (p.Ala846Pro) c.2530G>C (p.Ala844Pro) c.2503G>C (p.Ala835Pro) c.2497G>C (p.Ala833Pro) c.2491G>C (p.Ala831Pro) c.2440G>C (p.Ala814Pro) c.2493+183G>C (n.2493+183G>C) c.2359G>C (p.Ala787Pro) c.2353G>C (p.Ala785Pro) c.2445+183G>C (n.2445+183G>C) c.2281G>C (p.Ala761Pro) c.2208+1434G>C (n.2208+1434G>C) c.1501G>C (p.Ala501Pro) n.2777G>C | dbSNP |
17 | g.39725094G>T | CA399304404 | ERBB2 | c.2539G>T (p.Ala847Ser) c.2449G>T (p.Ala817Ser) c.1711G>T (p.Ala571Ser) c.2494G>T (p.Ala832Ser) c.*2329G>T (n.*2329G>T) c.645G>T n.3673G>T n.2863G>T c.2677G>T (p.Ala893Ser) c.2632G>T (p.Ala878Ser) c.2587G>T (p.Ala863Ser) c.2656G>T (p.Ala886Ser) c.2641G>T (p.Ala881Ser) c.2620G>T (p.Ala874Ser) c.2614G>T (p.Ala872Ser) c.2569G>T (p.Ala857Ser) c.2560G>T (p.Ala854Ser) c.2536G>T (p.Ala846Ser) c.2530G>T (p.Ala844Ser) c.2503G>T (p.Ala835Ser) c.2497G>T (p.Ala833Ser) c.2491G>T (p.Ala831Ser) c.2440G>T (p.Ala814Ser) c.2493+183G>T (n.2493+183G>T) c.2359G>T (p.Ala787Ser) c.2353G>T (p.Ala785Ser) c.2445+183G>T (n.2445+183G>T) c.2281G>T (p.Ala761Ser) c.2208+1434G>T (n.2208+1434G>T) c.1501G>T (p.Ala501Ser) n.2777G>T | dbSNP |
17 | g.39725095C>A | CA399304408 | ERBB2 | c.2540C>A (p.Ala847Asp) c.2450C>A (p.Ala817Asp) c.1712C>A (p.Ala571Asp) c.2495C>A (p.Ala832Asp) c.*2330C>A (n.*2330C>A) c.646C>A n.3674C>A n.2864C>A c.2678C>A (p.Ala893Asp) c.2633C>A (p.Ala878Asp) c.2588C>A (p.Ala863Asp) c.2657C>A (p.Ala886Asp) c.2642C>A (p.Ala881Asp) c.2621C>A (p.Ala874Asp) c.2615C>A (p.Ala872Asp) c.2570C>A (p.Ala857Asp) c.2561C>A (p.Ala854Asp) c.2537C>A (p.Ala846Asp) c.2531C>A (p.Ala844Asp) c.2504C>A (p.Ala835Asp) c.2498C>A (p.Ala833Asp) c.2492C>A (p.Ala831Asp) c.2441C>A (p.Ala814Asp) c.2493+184C>A (n.2493+184C>A) c.2360C>A (p.Ala787Asp) c.2354C>A (p.Ala785Asp) c.2445+184C>A (n.2445+184C>A) c.2282C>A (p.Ala761Asp) c.2208+1435C>A (n.2208+1435C>A) c.1502C>A (p.Ala501Asp) n.2778C>A | dbSNP |
17 | g.39725095C>G | CA399304409 | ERBB2 | c.2540C>G (p.Ala847Gly) c.2450C>G (p.Ala817Gly) c.1712C>G (p.Ala571Gly) c.2495C>G (p.Ala832Gly) c.*2330C>G (n.*2330C>G) c.646C>G n.3674C>G n.2864C>G c.2678C>G (p.Ala893Gly) c.2633C>G (p.Ala878Gly) c.2588C>G (p.Ala863Gly) c.2657C>G (p.Ala886Gly) c.2642C>G (p.Ala881Gly) c.2621C>G (p.Ala874Gly) c.2615C>G (p.Ala872Gly) c.2570C>G (p.Ala857Gly) c.2561C>G (p.Ala854Gly) c.2537C>G (p.Ala846Gly) c.2531C>G (p.Ala844Gly) c.2504C>G (p.Ala835Gly) c.2498C>G (p.Ala833Gly) c.2492C>G (p.Ala831Gly) c.2441C>G (p.Ala814Gly) c.2493+184C>G (n.2493+184C>G) c.2360C>G (p.Ala787Gly) c.2354C>G (p.Ala785Gly) c.2445+184C>G (n.2445+184C>G) c.2282C>G (p.Ala761Gly) c.2208+1435C>G (n.2208+1435C>G) c.1502C>G (p.Ala501Gly) n.2778C>G | dbSNP |
17 | g.39725095C>T | CA399304410 | ERBB2 | c.2540C>T (p.Ala847Val) c.2450C>T (p.Ala817Val) c.1712C>T (p.Ala571Val) c.2495C>T (p.Ala832Val) c.*2330C>T (n.*2330C>T) c.646C>T n.3674C>T n.2864C>T c.2678C>T (p.Ala893Val) c.2633C>T (p.Ala878Val) c.2588C>T (p.Ala863Val) c.2657C>T (p.Ala886Val) c.2642C>T (p.Ala881Val) c.2621C>T (p.Ala874Val) c.2615C>T (p.Ala872Val) c.2570C>T (p.Ala857Val) c.2561C>T (p.Ala854Val) c.2537C>T (p.Ala846Val) c.2531C>T (p.Ala844Val) c.2504C>T (p.Ala835Val) c.2498C>T (p.Ala833Val) c.2492C>T (p.Ala831Val) c.2441C>T (p.Ala814Val) c.2493+184C>T (n.2493+184C>T) c.2360C>T (p.Ala787Val) c.2354C>T (p.Ala785Val) c.2445+184C>T (n.2445+184C>T) c.2282C>T (p.Ala761Val) c.2208+1435C>T (n.2208+1435C>T) c.1502C>T (p.Ala501Val) n.2778C>T | dbSNP |
17 | g.39725096C>A | CA499890115 | ERBB2 | c.2541C>A (p.Ala847=) c.2451C>A (p.Ala817=) c.1713C>A (p.Ala571=) c.2496C>A (p.Ala832=) c.*2331C>A (n.*2331C>A) c.647C>A n.3675C>A n.2865C>A c.2679C>A (p.Ala893=) c.2634C>A (p.Ala878=) c.2589C>A (p.Ala863=) c.2658C>A (p.Ala886=) c.2643C>A (p.Ala881=) c.2622C>A (p.Ala874=) c.2616C>A (p.Ala872=) c.2571C>A (p.Ala857=) c.2562C>A (p.Ala854=) c.2538C>A (p.Ala846=) c.2532C>A (p.Ala844=) c.2505C>A (p.Ala835=) c.2499C>A (p.Ala833=) c.2493C>A (p.Ala831=) c.2442C>A (p.Ala814=) c.2493+185C>A (n.2493+185C>A) c.2361C>A (p.Ala787=) c.2355C>A (p.Ala785=) c.2445+185C>A (n.2445+185C>A) c.2283C>A (p.Ala761=) c.2208+1436C>A (n.2208+1436C>A) c.1503C>A (p.Ala501=) n.2779C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39725096C= | CA2259228133 | ERBB2 | c.2541C= (p.Ala847=) c.2451C= (p.Ala817=) c.1713C= (p.Ala571=) c.2496C= (p.Ala832=) c.*2331C= (n.*2331C=) c.647C= n.3675C= n.2865C= c.2679C= (p.Ala893=) c.2634C= (p.Ala878=) c.2589C= (p.Ala863=) c.2658C= (p.Ala886=) c.2643C= (p.Ala881=) c.2622C= (p.Ala874=) c.2616C= (p.Ala872=) c.2571C= (p.Ala857=) c.2562C= (p.Ala854=) c.2538C= (p.Ala846=) c.2532C= (p.Ala844=) c.2505C= (p.Ala835=) c.2499C= (p.Ala833=) c.2493C= (p.Ala831=) c.2442C= (p.Ala814=) c.2493+185C= (n.2493+185C=) c.2361C= (p.Ala787=) c.2355C= (p.Ala785=) c.2445+185C= (n.2445+185C=) c.2283C= (p.Ala761=) c.2208+1436C= (n.2208+1436C=) c.1503C= (p.Ala501=) n.2779C= | |
17 | g.39725096C>G | CA499890116 | ERBB2 | c.2541C>G (p.Ala847=) c.2451C>G (p.Ala817=) c.1713C>G (p.Ala571=) c.2496C>G (p.Ala832=) c.*2331C>G (n.*2331C>G) c.647C>G n.3675C>G n.2865C>G c.2679C>G (p.Ala893=) c.2634C>G (p.Ala878=) c.2589C>G (p.Ala863=) c.2658C>G (p.Ala886=) c.2643C>G (p.Ala881=) c.2622C>G (p.Ala874=) c.2616C>G (p.Ala872=) c.2571C>G (p.Ala857=) c.2562C>G (p.Ala854=) c.2538C>G (p.Ala846=) c.2532C>G (p.Ala844=) c.2505C>G (p.Ala835=) c.2499C>G (p.Ala833=) c.2493C>G (p.Ala831=) c.2442C>G (p.Ala814=) c.2493+185C>G (n.2493+185C>G) c.2361C>G (p.Ala787=) c.2355C>G (p.Ala785=) c.2445+185C>G (n.2445+185C>G) c.2283C>G (p.Ala761=) c.2208+1436C>G (n.2208+1436C>G) c.1503C>G (p.Ala501=) n.2779C>G | dbSNP |
17 | g.39725096C>T | CA8534325 | ERBB2 | c.2541C>T (p.Ala847=) c.2451C>T (p.Ala817=) c.1713C>T (p.Ala571=) c.2496C>T (p.Ala832=) c.*2331C>T (n.*2331C>T) c.647C>T n.3675C>T n.2865C>T c.2679C>T (p.Ala893=) c.2634C>T (p.Ala878=) c.2589C>T (p.Ala863=) c.2658C>T (p.Ala886=) c.2643C>T (p.Ala881=) c.2622C>T (p.Ala874=) c.2616C>T (p.Ala872=) c.2571C>T (p.Ala857=) c.2562C>T (p.Ala854=) c.2538C>T (p.Ala846=) c.2532C>T (p.Ala844=) c.2505C>T (p.Ala835=) c.2499C>T (p.Ala833=) c.2493C>T (p.Ala831=) c.2442C>T (p.Ala814=) c.2493+185C>T (n.2493+185C>T) c.2361C>T (p.Ala787=) c.2355C>T (p.Ala785=) c.2445+185C>T (n.2445+185C>T) c.2283C>T (p.Ala761=) c.2208+1436C>T (n.2208+1436C>T) c.1503C>T (p.Ala501=) n.2779C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39725097G>A | CA399304413 | ERBB2 | c.2542G>A (p.Ala848Thr) c.2452G>A (p.Ala818Thr) c.1714G>A (p.Ala572Thr) c.2497G>A (p.Ala833Thr) c.*2332G>A (n.*2332G>A) c.648G>A n.3676G>A n.2866G>A c.2680G>A (p.Ala894Thr) c.2635G>A (p.Ala879Thr) c.2590G>A (p.Ala864Thr) c.2659G>A (p.Ala887Thr) c.2644G>A (p.Ala882Thr) c.2623G>A (p.Ala875Thr) c.2617G>A (p.Ala873Thr) c.2572G>A (p.Ala858Thr) c.2563G>A (p.Ala855Thr) c.2539G>A (p.Ala847Thr) c.2533G>A (p.Ala845Thr) c.2506G>A (p.Ala836Thr) c.2500G>A (p.Ala834Thr) c.2494G>A (p.Ala832Thr) c.2443G>A (p.Ala815Thr) c.2493+186G>A (n.2493+186G>A) c.2362G>A (p.Ala788Thr) c.2356G>A (p.Ala786Thr) c.2445+186G>A (n.2445+186G>A) c.2284G>A (p.Ala762Thr) c.2208+1437G>A (n.2208+1437G>A) c.1504G>A (p.Ala502Thr) n.2780G>A | ClinVar dbSNP |
17 | g.39725097G>C | CA399304414 | ERBB2 | c.2542G>C (p.Ala848Pro) c.2452G>C (p.Ala818Pro) c.1714G>C (p.Ala572Pro) c.2497G>C (p.Ala833Pro) c.*2332G>C (n.*2332G>C) c.648G>C n.3676G>C n.2866G>C c.2680G>C (p.Ala894Pro) c.2635G>C (p.Ala879Pro) c.2590G>C (p.Ala864Pro) c.2659G>C (p.Ala887Pro) c.2644G>C (p.Ala882Pro) c.2623G>C (p.Ala875Pro) c.2617G>C (p.Ala873Pro) c.2572G>C (p.Ala858Pro) c.2563G>C (p.Ala855Pro) c.2539G>C (p.Ala847Pro) c.2533G>C (p.Ala845Pro) c.2506G>C (p.Ala836Pro) c.2500G>C (p.Ala834Pro) c.2494G>C (p.Ala832Pro) c.2443G>C (p.Ala815Pro) c.2493+186G>C (n.2493+186G>C) c.2362G>C (p.Ala788Pro) c.2356G>C (p.Ala786Pro) c.2445+186G>C (n.2445+186G>C) c.2284G>C (p.Ala762Pro) c.2208+1437G>C (n.2208+1437G>C) c.1504G>C (p.Ala502Pro) n.2780G>C | dbSNP |
17 | g.39725097G>T | CA399304416 | ERBB2 | c.2542G>T (p.Ala848Ser) c.2452G>T (p.Ala818Ser) c.1714G>T (p.Ala572Ser) c.2497G>T (p.Ala833Ser) c.*2332G>T (n.*2332G>T) c.648G>T n.3676G>T n.2866G>T c.2680G>T (p.Ala894Ser) c.2635G>T (p.Ala879Ser) c.2590G>T (p.Ala864Ser) c.2659G>T (p.Ala887Ser) c.2644G>T (p.Ala882Ser) c.2623G>T (p.Ala875Ser) c.2617G>T (p.Ala873Ser) c.2572G>T (p.Ala858Ser) c.2563G>T (p.Ala855Ser) c.2539G>T (p.Ala847Ser) c.2533G>T (p.Ala845Ser) c.2506G>T (p.Ala836Ser) c.2500G>T (p.Ala834Ser) c.2494G>T (p.Ala832Ser) c.2443G>T (p.Ala815Ser) c.2493+186G>T (n.2493+186G>T) c.2362G>T (p.Ala788Ser) c.2356G>T (p.Ala786Ser) c.2445+186G>T (n.2445+186G>T) c.2284G>T (p.Ala762Ser) c.2208+1437G>T (n.2208+1437G>T) c.1504G>T (p.Ala502Ser) n.2780G>T | dbSNP COSMIC COSMIC |
17 | g.39725098C>A | CA399304419 | ERBB2 | c.2543C>A (p.Ala848Asp) c.2453C>A (p.Ala818Asp) c.1715C>A (p.Ala572Asp) c.2498C>A (p.Ala833Asp) c.*2333C>A (n.*2333C>A) c.649C>A n.3677C>A n.2867C>A c.2681C>A (p.Ala894Asp) c.2636C>A (p.Ala879Asp) c.2591C>A (p.Ala864Asp) c.2660C>A (p.Ala887Asp) c.2645C>A (p.Ala882Asp) c.2624C>A (p.Ala875Asp) c.2618C>A (p.Ala873Asp) c.2573C>A (p.Ala858Asp) c.2564C>A (p.Ala855Asp) c.2540C>A (p.Ala847Asp) c.2534C>A (p.Ala845Asp) c.2507C>A (p.Ala836Asp) c.2501C>A (p.Ala834Asp) c.2495C>A (p.Ala832Asp) c.2444C>A (p.Ala815Asp) c.2493+187C>A (n.2493+187C>A) c.2363C>A (p.Ala788Asp) c.2357C>A (p.Ala786Asp) c.2445+187C>A (n.2445+187C>A) c.2285C>A (p.Ala762Asp) c.2208+1438C>A (n.2208+1438C>A) c.1505C>A (p.Ala502Asp) n.2781C>A | dbSNP |
17 | g.39725098C>G | CA399304421 | ERBB2 | c.2543C>G (p.Ala848Gly) c.2453C>G (p.Ala818Gly) c.1715C>G (p.Ala572Gly) c.2498C>G (p.Ala833Gly) c.*2333C>G (n.*2333C>G) c.649C>G n.3677C>G n.2867C>G c.2681C>G (p.Ala894Gly) c.2636C>G (p.Ala879Gly) c.2591C>G (p.Ala864Gly) c.2660C>G (p.Ala887Gly) c.2645C>G (p.Ala882Gly) c.2624C>G (p.Ala875Gly) c.2618C>G (p.Ala873Gly) c.2573C>G (p.Ala858Gly) c.2564C>G (p.Ala855Gly) c.2540C>G (p.Ala847Gly) c.2534C>G (p.Ala845Gly) c.2507C>G (p.Ala836Gly) c.2501C>G (p.Ala834Gly) c.2495C>G (p.Ala832Gly) c.2444C>G (p.Ala815Gly) c.2493+187C>G (n.2493+187C>G) c.2363C>G (p.Ala788Gly) c.2357C>G (p.Ala786Gly) c.2445+187C>G (n.2445+187C>G) c.2285C>G (p.Ala762Gly) c.2208+1438C>G (n.2208+1438C>G) c.1505C>G (p.Ala502Gly) n.2781C>G | dbSNP gnomAD v4 |
17 | g.39725098C>T | CA399304423 | ERBB2 | c.2543C>T (p.Ala848Val) c.2453C>T (p.Ala818Val) c.1715C>T (p.Ala572Val) c.2498C>T (p.Ala833Val) c.*2333C>T (n.*2333C>T) c.649C>T n.3677C>T n.2867C>T c.2681C>T (p.Ala894Val) c.2636C>T (p.Ala879Val) c.2591C>T (p.Ala864Val) c.2660C>T (p.Ala887Val) c.2645C>T (p.Ala882Val) c.2624C>T (p.Ala875Val) c.2618C>T (p.Ala873Val) c.2573C>T (p.Ala858Val) c.2564C>T (p.Ala855Val) c.2540C>T (p.Ala847Val) c.2534C>T (p.Ala845Val) c.2507C>T (p.Ala836Val) c.2501C>T (p.Ala834Val) c.2495C>T (p.Ala832Val) c.2444C>T (p.Ala815Val) c.2493+187C>T (n.2493+187C>T) c.2363C>T (p.Ala788Val) c.2357C>T (p.Ala786Val) c.2445+187C>T (n.2445+187C>T) c.2285C>T (p.Ala762Val) c.2208+1438C>T (n.2208+1438C>T) c.1505C>T (p.Ala502Val) n.2781C>T | dbSNP |
17 | g.39725099T>A | CA499890119 | ERBB2 | c.2544T>A (p.Ala848=) c.2454T>A (p.Ala818=) c.1716T>A (p.Ala572=) c.2499T>A (p.Ala833=) c.*2334T>A (n.*2334T>A) c.650T>A n.3678T>A n.2868T>A c.2682T>A (p.Ala894=) c.2637T>A (p.Ala879=) c.2592T>A (p.Ala864=) c.2661T>A (p.Ala887=) c.2646T>A (p.Ala882=) c.2625T>A (p.Ala875=) c.2619T>A (p.Ala873=) c.2574T>A (p.Ala858=) c.2565T>A (p.Ala855=) c.2541T>A (p.Ala847=) c.2535T>A (p.Ala845=) c.2508T>A (p.Ala836=) c.2502T>A (p.Ala834=) c.2496T>A (p.Ala832=) c.2445T>A (p.Ala815=) c.2493+188T>A (n.2493+188T>A) c.2364T>A (p.Ala788=) c.2358T>A (p.Ala786=) c.2445+188T>A (n.2445+188T>A) c.2286T>A (p.Ala762=) c.2208+1439T>A (n.2208+1439T>A) c.1506T>A (p.Ala502=) n.2782T>A | dbSNP |
17 | g.39725099T>C | CA499890120 | ERBB2 | c.2544T>C (p.Ala848=) c.2454T>C (p.Ala818=) c.1716T>C (p.Ala572=) c.2499T>C (p.Ala833=) c.*2334T>C (n.*2334T>C) c.650T>C n.3678T>C n.2868T>C c.2682T>C (p.Ala894=) c.2637T>C (p.Ala879=) c.2592T>C (p.Ala864=) c.2661T>C (p.Ala887=) c.2646T>C (p.Ala882=) c.2625T>C (p.Ala875=) c.2619T>C (p.Ala873=) c.2574T>C (p.Ala858=) c.2565T>C (p.Ala855=) c.2541T>C (p.Ala847=) c.2535T>C (p.Ala845=) c.2508T>C (p.Ala836=) c.2502T>C (p.Ala834=) c.2496T>C (p.Ala832=) c.2445T>C (p.Ala815=) c.2493+188T>C (n.2493+188T>C) c.2364T>C (p.Ala788=) c.2358T>C (p.Ala786=) c.2445+188T>C (n.2445+188T>C) c.2286T>C (p.Ala762=) c.2208+1439T>C (n.2208+1439T>C) c.1506T>C (p.Ala502=) n.2782T>C | dbSNP |
17 | g.39725099T>G | CA499890122 | ERBB2 | c.2544T>G (p.Ala848=) c.2454T>G (p.Ala818=) c.1716T>G (p.Ala572=) c.2499T>G (p.Ala833=) c.*2334T>G (n.*2334T>G) c.650T>G n.3678T>G n.2868T>G c.2682T>G (p.Ala894=) c.2637T>G (p.Ala879=) c.2592T>G (p.Ala864=) c.2661T>G (p.Ala887=) c.2646T>G (p.Ala882=) c.2625T>G (p.Ala875=) c.2619T>G (p.Ala873=) c.2574T>G (p.Ala858=) c.2565T>G (p.Ala855=) c.2541T>G (p.Ala847=) c.2535T>G (p.Ala845=) c.2508T>G (p.Ala836=) c.2502T>G (p.Ala834=) c.2496T>G (p.Ala832=) c.2445T>G (p.Ala815=) c.2493+188T>G (n.2493+188T>G) c.2364T>G (p.Ala788=) c.2358T>G (p.Ala786=) c.2445+188T>G (n.2445+188T>G) c.2286T>G (p.Ala762=) c.2208+1439T>G (n.2208+1439T>G) c.1506T>G (p.Ala502=) n.2782T>G | |
17 | g.39725100C>A | CA499890123 | ERBB2 | c.2545C>A (p.Arg849=) c.2455C>A (p.Arg819=) c.1717C>A (p.Arg573=) c.2500C>A (p.Arg834=) c.*2335C>A (n.*2335C>A) c.651C>A n.3679C>A n.2869C>A c.2683C>A (p.Arg895=) c.2638C>A (p.Arg880=) c.2593C>A (p.Arg865=) c.2662C>A (p.Arg888=) c.2647C>A (p.Arg883=) c.2626C>A (p.Arg876=) c.2620C>A (p.Arg874=) c.2575C>A (p.Arg859=) c.2566C>A (p.Arg856=) c.2542C>A (p.Arg848=) c.2536C>A (p.Arg846=) c.2509C>A (p.Arg837=) c.2503C>A (p.Arg835=) c.2497C>A (p.Arg833=) c.2446C>A (p.Arg816=) c.2493+189C>A (n.2493+189C>A) c.2365C>A (p.Arg789=) c.2359C>A (p.Arg787=) c.2445+189C>A (n.2445+189C>A) c.2287C>A (p.Arg763=) c.2208+1440C>A (n.2208+1440C>A) c.1507C>A (p.Arg503=) n.2783C>A | gnomAD v4 |
17 | g.39725100C>G | CA399304424 | ERBB2 | c.2545C>G (p.Arg849Gly) c.2455C>G (p.Arg819Gly) c.1717C>G (p.Arg573Gly) c.2500C>G (p.Arg834Gly) c.*2335C>G (n.*2335C>G) c.651C>G n.3679C>G n.2869C>G c.2683C>G (p.Arg895Gly) c.2638C>G (p.Arg880Gly) c.2593C>G (p.Arg865Gly) c.2662C>G (p.Arg888Gly) c.2647C>G (p.Arg883Gly) c.2626C>G (p.Arg876Gly) c.2620C>G (p.Arg874Gly) c.2575C>G (p.Arg859Gly) c.2566C>G (p.Arg856Gly) c.2542C>G (p.Arg848Gly) c.2536C>G (p.Arg846Gly) c.2509C>G (p.Arg837Gly) c.2503C>G (p.Arg835Gly) c.2497C>G (p.Arg833Gly) c.2446C>G (p.Arg816Gly) c.2493+189C>G (n.2493+189C>G) c.2365C>G (p.Arg789Gly) c.2359C>G (p.Arg787Gly) c.2445+189C>G (n.2445+189C>G) c.2287C>G (p.Arg763Gly) c.2208+1440C>G (n.2208+1440C>G) c.1507C>G (p.Arg503Gly) n.2783C>G | dbSNP |
17 | g.39725100C>T | CA399304425 | ERBB2 | c.2545C>T (p.Arg849Trp) c.2455C>T (p.Arg819Trp) c.1717C>T (p.Arg573Trp) c.2500C>T (p.Arg834Trp) c.*2335C>T (n.*2335C>T) c.651C>T n.3679C>T n.2869C>T c.2683C>T (p.Arg895Trp) c.2638C>T (p.Arg880Trp) c.2593C>T (p.Arg865Trp) c.2662C>T (p.Arg888Trp) c.2647C>T (p.Arg883Trp) c.2626C>T (p.Arg876Trp) c.2620C>T (p.Arg874Trp) c.2575C>T (p.Arg859Trp) c.2566C>T (p.Arg856Trp) c.2542C>T (p.Arg848Trp) c.2536C>T (p.Arg846Trp) c.2509C>T (p.Arg837Trp) c.2503C>T (p.Arg835Trp) c.2497C>T (p.Arg833Trp) c.2446C>T (p.Arg816Trp) c.2493+189C>T (n.2493+189C>T) c.2365C>T (p.Arg789Trp) c.2359C>T (p.Arg787Trp) c.2445+189C>T (n.2445+189C>T) c.2287C>T (p.Arg763Trp) c.2208+1440C>T (n.2208+1440C>T) c.1507C>T (p.Arg503Trp) n.2783C>T | gnomAD v4 |
17 | g.39725100_39725101delinsCG | CA2259228134 | ERBB2 | c.2545_2546delinsCG (p.Arg849=) c.2455_2456delinsCG (p.Arg819=) c.1717_1718delinsCG (p.Arg573=) c.2500_2501delinsCG (p.Arg834=) c.*2335_*2336delinsCG (n.*2335_*2336delinsCG) c.651_652delinsCG n.3679_3680delinsCG n.2869_2870delinsCG c.2683_2684delinsCG (p.Arg895=) c.2638_2639delinsCG (p.Arg880=) c.2593_2594delinsCG (p.Arg865=) c.2662_2663delinsCG (p.Arg888=) c.2647_2648delinsCG (p.Arg883=) c.2626_2627delinsCG (p.Arg876=) c.2620_2621delinsCG (p.Arg874=) c.2575_2576delinsCG (p.Arg859=) c.2566_2567delinsCG (p.Arg856=) c.2542_2543delinsCG (p.Arg848=) c.2536_2537delinsCG (p.Arg846=) c.2509_2510delinsCG (p.Arg837=) c.2503_2504delinsCG (p.Arg835=) c.2497_2498delinsCG (p.Arg833=) c.2446_2447delinsCG (p.Arg816=) c.2493+189_2493+190delinsCG (n.2493+189_2493+190delinsCG) c.2365_2366delinsCG (p.Arg789=) c.2359_2360delinsCG (p.Arg787=) c.2445+189_2445+190delinsCG (n.2445+189_2445+190delinsCG) c.2287_2288delinsCG (p.Arg763=) c.2208+1440_2208+1441delinsCG (n.2208+1440_2208+1441delinsCG) c.1507_1508delinsCG (p.Arg503=) n.2783_2784delinsCG | |
17 | g.39725101G>A | CA399304431 | ERBB2 | c.2546G>A (p.Arg849Gln) c.2456G>A (p.Arg819Gln) c.1718G>A (p.Arg573Gln) c.2501G>A (p.Arg834Gln) c.*2336G>A (n.*2336G>A) c.652G>A n.3680G>A n.2870G>A c.2684G>A (p.Arg895Gln) c.2639G>A (p.Arg880Gln) c.2594G>A (p.Arg865Gln) c.2663G>A (p.Arg888Gln) c.2648G>A (p.Arg883Gln) c.2627G>A (p.Arg876Gln) c.2621G>A (p.Arg874Gln) c.2576G>A (p.Arg859Gln) c.2567G>A (p.Arg856Gln) c.2543G>A (p.Arg848Gln) c.2537G>A (p.Arg846Gln) c.2510G>A (p.Arg837Gln) c.2504G>A (p.Arg835Gln) c.2498G>A (p.Arg833Gln) c.2447G>A (p.Arg816Gln) c.2493+190G>A (n.2493+190G>A) c.2366G>A (p.Arg789Gln) c.2360G>A (p.Arg787Gln) c.2445+190G>A (n.2445+190G>A) c.2288G>A (p.Arg763Gln) c.2208+1441G>A (n.2208+1441G>A) c.1508G>A (p.Arg503Gln) n.2784G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39725101G>C | CA399304430 | ERBB2 | c.2546G>C (p.Arg849Pro) c.2456G>C (p.Arg819Pro) c.1718G>C (p.Arg573Pro) c.2501G>C (p.Arg834Pro) c.*2336G>C (n.*2336G>C) c.652G>C n.3680G>C n.2870G>C c.2684G>C (p.Arg895Pro) c.2639G>C (p.Arg880Pro) c.2594G>C (p.Arg865Pro) c.2663G>C (p.Arg888Pro) c.2648G>C (p.Arg883Pro) c.2627G>C (p.Arg876Pro) c.2621G>C (p.Arg874Pro) c.2576G>C (p.Arg859Pro) c.2567G>C (p.Arg856Pro) c.2543G>C (p.Arg848Pro) c.2537G>C (p.Arg846Pro) c.2510G>C (p.Arg837Pro) c.2504G>C (p.Arg835Pro) c.2498G>C (p.Arg833Pro) c.2447G>C (p.Arg816Pro) c.2493+190G>C (n.2493+190G>C) c.2366G>C (p.Arg789Pro) c.2360G>C (p.Arg787Pro) c.2445+190G>C (n.2445+190G>C) c.2288G>C (p.Arg763Pro) c.2208+1441G>C (n.2208+1441G>C) c.1508G>C (p.Arg503Pro) n.2784G>C | dbSNP |
17 | g.39725101G= | CA2259228136 | ERBB2 | c.2546G= (p.Arg849=) c.2456G= (p.Arg819=) c.1718G= (p.Arg573=) c.2501G= (p.Arg834=) c.*2336G= (n.*2336G=) c.652G= n.3680G= n.2870G= c.2684G= (p.Arg895=) c.2639G= (p.Arg880=) c.2594G= (p.Arg865=) c.2663G= (p.Arg888=) c.2648G= (p.Arg883=) c.2627G= (p.Arg876=) c.2621G= (p.Arg874=) c.2576G= (p.Arg859=) c.2567G= (p.Arg856=) c.2543G= (p.Arg848=) c.2537G= (p.Arg846=) c.2510G= (p.Arg837=) c.2504G= (p.Arg835=) c.2498G= (p.Arg833=) c.2447G= (p.Arg816=) c.2493+190G= (n.2493+190G=) c.2366G= (p.Arg789=) c.2360G= (p.Arg787=) c.2445+190G= (n.2445+190G=) c.2288G= (p.Arg763=) c.2208+1441G= (n.2208+1441G=) c.1508G= (p.Arg503=) n.2784G= | |
17 | g.39725101G>T | CA399304428 | ERBB2 | c.2546G>T (p.Arg849Leu) c.2456G>T (p.Arg819Leu) c.1718G>T (p.Arg573Leu) c.2501G>T (p.Arg834Leu) c.*2336G>T (n.*2336G>T) c.652G>T n.3680G>T n.2870G>T c.2684G>T (p.Arg895Leu) c.2639G>T (p.Arg880Leu) c.2594G>T (p.Arg865Leu) c.2663G>T (p.Arg888Leu) c.2648G>T (p.Arg883Leu) c.2627G>T (p.Arg876Leu) c.2621G>T (p.Arg874Leu) c.2576G>T (p.Arg859Leu) c.2567G>T (p.Arg856Leu) c.2543G>T (p.Arg848Leu) c.2537G>T (p.Arg846Leu) c.2510G>T (p.Arg837Leu) c.2504G>T (p.Arg835Leu) c.2498G>T (p.Arg833Leu) c.2447G>T (p.Arg816Leu) c.2493+190G>T (n.2493+190G>T) c.2366G>T (p.Arg789Leu) c.2360G>T (p.Arg787Leu) c.2445+190G>T (n.2445+190G>T) c.2288G>T (p.Arg763Leu) c.2208+1441G>T (n.2208+1441G>T) c.1508G>T (p.Arg503Leu) n.2784G>T | dbSNP gnomAD v2 |
17 | g.39725102dup | CA2637622109 | ERBB2 | c.2547dup (p.Asn850GlufsTer24) c.2457dup (p.Asn820GlufsTer24) c.1719dup (p.Asn574GlufsTer24) c.2502dup (p.Asn835GlufsTer24) c.*2337dup (n.*2337dup) c.653dup n.3681dup n.2871dup c.2685dup (p.Asn896GlufsTer24) c.2640dup (p.Asn881GlufsTer24) c.2595dup (p.Asn866GlufsTer24) c.2664dup (p.Asn889GlufsTer24) c.2649dup (p.Asn884GlufsTer24) c.2628dup (p.Asn877GlufsTer24) c.2622dup (p.Asn875GlufsTer24) c.2577dup (p.Asn860GlufsTer24) c.2568dup (p.Asn857GlufsTer24) c.2544dup (p.Asn849GlufsTer24) c.2538dup (p.Asn847GlufsTer24) c.2511dup (p.Asn838GlufsTer24) c.2505dup (p.Asn836GlufsTer24) c.2499dup (p.Asn834GlufsTer24) c.2448dup (p.Asn817GlufsTer24) c.2493+191dup (n.2493+191dup) c.2367dup (p.Asn790GlufsTer24) c.2361dup (p.Asn788GlufsTer24) c.2445+191dup (n.2445+191dup) c.2289dup (p.Asn764GlufsTer24) c.2208+1442dup (n.2208+1442dup) c.1509dup (p.Asn504GlufsTer24) n.2785dup | gnomAD v4 |
17 | g.39725102del | CA2259228135 | ERBB2 | c.2547del (p.Asn850ThrfsTer?) c.2457del (p.Asn820ThrfsTer?) c.1719del (p.Asn574ThrfsTer?) c.2502del (p.Asn835ThrfsTer?) c.*2337del (n.*2337del) c.653del n.3681del n.2871del c.2685del (p.Asn896ThrfsTer?) c.2640del (p.Asn881ThrfsTer?) c.2595del (p.Asn866ThrfsTer?) c.2664del (p.Asn889ThrfsTer?) c.2649del (p.Asn884ThrfsTer?) c.2628del (p.Asn877ThrfsTer?) c.2622del (p.Asn875ThrfsTer?) c.2577del (p.Asn860ThrfsTer?) c.2568del (p.Asn857ThrfsTer?) c.2544del (p.Asn849ThrfsTer?) c.2538del (p.Asn847ThrfsTer?) c.2511del (p.Asn838ThrfsTer?) c.2505del (p.Asn836ThrfsTer?) c.2499del (p.Asn834ThrfsTer?) c.2448del (p.Asn817ThrfsTer?) c.2493+191del (n.2493+191del) c.2367del (p.Asn790ThrfsTer?) c.2361del (p.Asn788ThrfsTer?) c.2445+191del (n.2445+191del) c.2289del (p.Asn764ThrfsTer?) c.2208+1442del (n.2208+1442del) c.1509del (p.Asn504ThrfsTer?) n.2785del | dbSNP |
17 | g.39725102G>A | CA8534326 | ERBB2 | c.2547G>A (p.Arg849=) c.2457G>A (p.Arg819=) c.1719G>A (p.Arg573=) c.2502G>A (p.Arg834=) c.*2337G>A (n.*2337G>A) c.653G>A n.3681G>A n.2871G>A c.2685G>A (p.Arg895=) c.2640G>A (p.Arg880=) c.2595G>A (p.Arg865=) c.2664G>A (p.Arg888=) c.2649G>A (p.Arg883=) c.2628G>A (p.Arg876=) c.2622G>A (p.Arg874=) c.2577G>A (p.Arg859=) c.2568G>A (p.Arg856=) c.2544G>A (p.Arg848=) c.2538G>A (p.Arg846=) c.2511G>A (p.Arg837=) c.2505G>A (p.Arg835=) c.2499G>A (p.Arg833=) c.2448G>A (p.Arg816=) c.2493+191G>A (n.2493+191G>A) c.2367G>A (p.Arg789=) c.2361G>A (p.Arg787=) c.2445+191G>A (n.2445+191G>A) c.2289G>A (p.Arg763=) c.2208+1442G>A (n.2208+1442G>A) c.1509G>A (p.Arg503=) n.2785G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39725102G>C | CA499890124 | ERBB2 | c.2547G>C (p.Arg849=) c.2457G>C (p.Arg819=) c.1719G>C (p.Arg573=) c.2502G>C (p.Arg834=) c.*2337G>C (n.*2337G>C) c.653G>C n.3681G>C n.2871G>C c.2685G>C (p.Arg895=) c.2640G>C (p.Arg880=) c.2595G>C (p.Arg865=) c.2664G>C (p.Arg888=) c.2649G>C (p.Arg883=) c.2628G>C (p.Arg876=) c.2622G>C (p.Arg874=) c.2577G>C (p.Arg859=) c.2568G>C (p.Arg856=) c.2544G>C (p.Arg848=) c.2538G>C (p.Arg846=) c.2511G>C (p.Arg837=) c.2505G>C (p.Arg835=) c.2499G>C (p.Arg833=) c.2448G>C (p.Arg816=) c.2493+191G>C (n.2493+191G>C) c.2367G>C (p.Arg789=) c.2361G>C (p.Arg787=) c.2445+191G>C (n.2445+191G>C) c.2289G>C (p.Arg763=) c.2208+1442G>C (n.2208+1442G>C) c.1509G>C (p.Arg503=) n.2785G>C | dbSNP gnomAD v4 |
17 | g.39725102G= | CA2259228137 | ERBB2 | c.2547G= (p.Arg849=) c.2457G= (p.Arg819=) c.1719G= (p.Arg573=) c.2502G= (p.Arg834=) c.*2337G= (n.*2337G=) c.653G= n.3681G= n.2871G= c.2685G= (p.Arg895=) c.2640G= (p.Arg880=) c.2595G= (p.Arg865=) c.2664G= (p.Arg888=) c.2649G= (p.Arg883=) c.2628G= (p.Arg876=) c.2622G= (p.Arg874=) c.2577G= (p.Arg859=) c.2568G= (p.Arg856=) c.2544G= (p.Arg848=) c.2538G= (p.Arg846=) c.2511G= (p.Arg837=) c.2505G= (p.Arg835=) c.2499G= (p.Arg833=) c.2448G= (p.Arg816=) c.2493+191G= (n.2493+191G=) c.2367G= (p.Arg789=) c.2361G= (p.Arg787=) c.2445+191G= (n.2445+191G=) c.2289G= (p.Arg763=) c.2208+1442G= (n.2208+1442G=) c.1509G= (p.Arg503=) n.2785G= | |
17 | g.39725102G>T | CA499890125 | ERBB2 | c.2547G>T (p.Arg849=) c.2457G>T (p.Arg819=) c.1719G>T (p.Arg573=) c.2502G>T (p.Arg834=) c.*2337G>T (n.*2337G>T) c.653G>T n.3681G>T n.2871G>T c.2685G>T (p.Arg895=) c.2640G>T (p.Arg880=) c.2595G>T (p.Arg865=) c.2664G>T (p.Arg888=) c.2649G>T (p.Arg883=) c.2628G>T (p.Arg876=) c.2622G>T (p.Arg874=) c.2577G>T (p.Arg859=) c.2568G>T (p.Arg856=) c.2544G>T (p.Arg848=) c.2538G>T (p.Arg846=) c.2511G>T (p.Arg837=) c.2505G>T (p.Arg835=) c.2499G>T (p.Arg833=) c.2448G>T (p.Arg816=) c.2493+191G>T (n.2493+191G>T) c.2367G>T (p.Arg789=) c.2361G>T (p.Arg787=) c.2445+191G>T (n.2445+191G>T) c.2289G>T (p.Arg763=) c.2208+1442G>T (n.2208+1442G>T) c.1509G>T (p.Arg503=) n.2785G>T | dbSNP gnomAD v4 |
17 | g.39725103A>C | CA399304434 | ERBB2 | c.2548A>C (p.Asn850His) c.2458A>C (p.Asn820His) c.1720A>C (p.Asn574His) c.2503A>C (p.Asn835His) c.*2338A>C (n.*2338A>C) c.654A>C n.3682A>C n.2872A>C c.2686A>C (p.Asn896His) c.2641A>C (p.Asn881His) c.2596A>C (p.Asn866His) c.2665A>C (p.Asn889His) c.2650A>C (p.Asn884His) c.2629A>C (p.Asn877His) c.2623A>C (p.Asn875His) c.2578A>C (p.Asn860His) c.2569A>C (p.Asn857His) c.2545A>C (p.Asn849His) c.2539A>C (p.Asn847His) c.2512A>C (p.Asn838His) c.2506A>C (p.Asn836His) c.2500A>C (p.Asn834His) c.2449A>C (p.Asn817His) c.2493+192A>C (n.2493+192A>C) c.2368A>C (p.Asn790His) c.2362A>C (p.Asn788His) c.2445+192A>C (n.2445+192A>C) c.2290A>C (p.Asn764His) c.2208+1443A>C (n.2208+1443A>C) c.1510A>C (p.Asn504His) n.2786A>C | |
17 | g.39725103A>G | CA399304436 | ERBB2 | c.2548A>G (p.Asn850Asp) c.2458A>G (p.Asn820Asp) c.1720A>G (p.Asn574Asp) c.2503A>G (p.Asn835Asp) c.*2338A>G (n.*2338A>G) c.654A>G n.3682A>G n.2872A>G c.2686A>G (p.Asn896Asp) c.2641A>G (p.Asn881Asp) c.2596A>G (p.Asn866Asp) c.2665A>G (p.Asn889Asp) c.2650A>G (p.Asn884Asp) c.2629A>G (p.Asn877Asp) c.2623A>G (p.Asn875Asp) c.2578A>G (p.Asn860Asp) c.2569A>G (p.Asn857Asp) c.2545A>G (p.Asn849Asp) c.2539A>G (p.Asn847Asp) c.2512A>G (p.Asn838Asp) c.2506A>G (p.Asn836Asp) c.2500A>G (p.Asn834Asp) c.2449A>G (p.Asn817Asp) c.2493+192A>G (n.2493+192A>G) c.2368A>G (p.Asn790Asp) c.2362A>G (p.Asn788Asp) c.2445+192A>G (n.2445+192A>G) c.2290A>G (p.Asn764Asp) c.2208+1443A>G (n.2208+1443A>G) c.1510A>G (p.Asn504Asp) n.2786A>G | dbSNP |
17 | g.39725103A>T | CA399304438 | ERBB2 | c.2548A>T (p.Asn850Tyr) c.2458A>T (p.Asn820Tyr) c.1720A>T (p.Asn574Tyr) c.2503A>T (p.Asn835Tyr) c.*2338A>T (n.*2338A>T) c.654A>T n.3682A>T n.2872A>T c.2686A>T (p.Asn896Tyr) c.2641A>T (p.Asn881Tyr) c.2596A>T (p.Asn866Tyr) c.2665A>T (p.Asn889Tyr) c.2650A>T (p.Asn884Tyr) c.2629A>T (p.Asn877Tyr) c.2623A>T (p.Asn875Tyr) c.2578A>T (p.Asn860Tyr) c.2569A>T (p.Asn857Tyr) c.2545A>T (p.Asn849Tyr) c.2539A>T (p.Asn847Tyr) c.2512A>T (p.Asn838Tyr) c.2506A>T (p.Asn836Tyr) c.2500A>T (p.Asn834Tyr) c.2449A>T (p.Asn817Tyr) c.2493+192A>T (n.2493+192A>T) c.2368A>T (p.Asn790Tyr) c.2362A>T (p.Asn788Tyr) c.2445+192A>T (n.2445+192A>T) c.2290A>T (p.Asn764Tyr) c.2208+1443A>T (n.2208+1443A>T) c.1510A>T (p.Asn504Tyr) n.2786A>T | dbSNP |
17 | g.39725104A>C | CA399304441 | ERBB2 | c.2549A>C (p.Asn850Thr) c.2459A>C (p.Asn820Thr) c.1721A>C (p.Asn574Thr) c.2504A>C (p.Asn835Thr) c.*2339A>C (n.*2339A>C) c.655A>C n.3683A>C n.2873A>C c.2687A>C (p.Asn896Thr) c.2642A>C (p.Asn881Thr) c.2597A>C (p.Asn866Thr) c.2666A>C (p.Asn889Thr) c.2651A>C (p.Asn884Thr) c.2630A>C (p.Asn877Thr) c.2624A>C (p.Asn875Thr) c.2579A>C (p.Asn860Thr) c.2570A>C (p.Asn857Thr) c.2546A>C (p.Asn849Thr) c.2540A>C (p.Asn847Thr) c.2513A>C (p.Asn838Thr) c.2507A>C (p.Asn836Thr) c.2501A>C (p.Asn834Thr) c.2450A>C (p.Asn817Thr) c.2493+193A>C (n.2493+193A>C) c.2369A>C (p.Asn790Thr) c.2363A>C (p.Asn788Thr) c.2445+193A>C (n.2445+193A>C) c.2291A>C (p.Asn764Thr) c.2208+1444A>C (n.2208+1444A>C) c.1511A>C (p.Asn504Thr) n.2787A>C | dbSNP |
17 | g.39725104A>G | CA399304444 | ERBB2 | c.2549A>G (p.Asn850Ser) c.2459A>G (p.Asn820Ser) c.1721A>G (p.Asn574Ser) c.2504A>G (p.Asn835Ser) c.*2339A>G (n.*2339A>G) c.655A>G n.3683A>G n.2873A>G c.2687A>G (p.Asn896Ser) c.2642A>G (p.Asn881Ser) c.2597A>G (p.Asn866Ser) c.2666A>G (p.Asn889Ser) c.2651A>G (p.Asn884Ser) c.2630A>G (p.Asn877Ser) c.2624A>G (p.Asn875Ser) c.2579A>G (p.Asn860Ser) c.2570A>G (p.Asn857Ser) c.2546A>G (p.Asn849Ser) c.2540A>G (p.Asn847Ser) c.2513A>G (p.Asn838Ser) c.2507A>G (p.Asn836Ser) c.2501A>G (p.Asn834Ser) c.2450A>G (p.Asn817Ser) c.2493+193A>G (n.2493+193A>G) c.2369A>G (p.Asn790Ser) c.2363A>G (p.Asn788Ser) c.2445+193A>G (n.2445+193A>G) c.2291A>G (p.Asn764Ser) c.2208+1444A>G (n.2208+1444A>G) c.1511A>G (p.Asn504Ser) n.2787A>G | dbSNP |
17 | g.39725104A>T | CA399304446 | ERBB2 | c.2549A>T (p.Asn850Ile) c.2459A>T (p.Asn820Ile) c.1721A>T (p.Asn574Ile) c.2504A>T (p.Asn835Ile) c.*2339A>T (n.*2339A>T) c.655A>T n.3683A>T n.2873A>T c.2687A>T (p.Asn896Ile) c.2642A>T (p.Asn881Ile) c.2597A>T (p.Asn866Ile) c.2666A>T (p.Asn889Ile) c.2651A>T (p.Asn884Ile) c.2630A>T (p.Asn877Ile) c.2624A>T (p.Asn875Ile) c.2579A>T (p.Asn860Ile) c.2570A>T (p.Asn857Ile) c.2546A>T (p.Asn849Ile) c.2540A>T (p.Asn847Ile) c.2513A>T (p.Asn838Ile) c.2507A>T (p.Asn836Ile) c.2501A>T (p.Asn834Ile) c.2450A>T (p.Asn817Ile) c.2493+193A>T (n.2493+193A>T) c.2369A>T (p.Asn790Ile) c.2363A>T (p.Asn788Ile) c.2445+193A>T (n.2445+193A>T) c.2291A>T (p.Asn764Ile) c.2208+1444A>T (n.2208+1444A>T) c.1511A>T (p.Asn504Ile) n.2787A>T | dbSNP |
17 | g.39725105C>A | CA399304450 | ERBB2 | c.2550C>A (p.Asn850Lys) c.2460C>A (p.Asn820Lys) c.1722C>A (p.Asn574Lys) c.2505C>A (p.Asn835Lys) c.*2340C>A (n.*2340C>A) c.656C>A n.3684C>A n.2874C>A c.2688C>A (p.Asn896Lys) c.2643C>A (p.Asn881Lys) c.2598C>A (p.Asn866Lys) c.2667C>A (p.Asn889Lys) c.2652C>A (p.Asn884Lys) c.2631C>A (p.Asn877Lys) c.2625C>A (p.Asn875Lys) c.2580C>A (p.Asn860Lys) c.2571C>A (p.Asn857Lys) c.2547C>A (p.Asn849Lys) c.2541C>A (p.Asn847Lys) c.2514C>A (p.Asn838Lys) c.2508C>A (p.Asn836Lys) c.2502C>A (p.Asn834Lys) c.2451C>A (p.Asn817Lys) c.2493+194C>A (n.2493+194C>A) c.2370C>A (p.Asn790Lys) c.2364C>A (p.Asn788Lys) c.2445+194C>A (n.2445+194C>A) c.2292C>A (p.Asn764Lys) c.2208+1445C>A (n.2208+1445C>A) c.1512C>A (p.Asn504Lys) n.2788C>A | dbSNP |
17 | g.39725105C= | CA2259228138 | ERBB2 | c.2550C= (p.Asn850=) c.2460C= (p.Asn820=) c.1722C= (p.Asn574=) c.2505C= (p.Asn835=) c.*2340C= (n.*2340C=) c.656C= n.3684C= n.2874C= c.2688C= (p.Asn896=) c.2643C= (p.Asn881=) c.2598C= (p.Asn866=) c.2667C= (p.Asn889=) c.2652C= (p.Asn884=) c.2631C= (p.Asn877=) c.2625C= (p.Asn875=) c.2580C= (p.Asn860=) c.2571C= (p.Asn857=) c.2547C= (p.Asn849=) c.2541C= (p.Asn847=) c.2514C= (p.Asn838=) c.2508C= (p.Asn836=) c.2502C= (p.Asn834=) c.2451C= (p.Asn817=) c.2493+194C= (n.2493+194C=) c.2370C= (p.Asn790=) c.2364C= (p.Asn788=) c.2445+194C= (n.2445+194C=) c.2292C= (p.Asn764=) c.2208+1445C= (n.2208+1445C=) c.1512C= (p.Asn504=) n.2788C= | |
17 | g.39725105C>G | CA399304452 | ERBB2 | c.2550C>G (p.Asn850Lys) c.2460C>G (p.Asn820Lys) c.1722C>G (p.Asn574Lys) c.2505C>G (p.Asn835Lys) c.*2340C>G (n.*2340C>G) c.656C>G n.3684C>G n.2874C>G c.2688C>G (p.Asn896Lys) c.2643C>G (p.Asn881Lys) c.2598C>G (p.Asn866Lys) c.2667C>G (p.Asn889Lys) c.2652C>G (p.Asn884Lys) c.2631C>G (p.Asn877Lys) c.2625C>G (p.Asn875Lys) c.2580C>G (p.Asn860Lys) c.2571C>G (p.Asn857Lys) c.2547C>G (p.Asn849Lys) c.2541C>G (p.Asn847Lys) c.2514C>G (p.Asn838Lys) c.2508C>G (p.Asn836Lys) c.2502C>G (p.Asn834Lys) c.2451C>G (p.Asn817Lys) c.2493+194C>G (n.2493+194C>G) c.2370C>G (p.Asn790Lys) c.2364C>G (p.Asn788Lys) c.2445+194C>G (n.2445+194C>G) c.2292C>G (p.Asn764Lys) c.2208+1445C>G (n.2208+1445C>G) c.1512C>G (p.Asn504Lys) n.2788C>G | dbSNP |
17 | g.39725105C>T | CA8534327 | ERBB2 | c.2550C>T (p.Asn850=) c.2460C>T (p.Asn820=) c.1722C>T (p.Asn574=) c.2505C>T (p.Asn835=) c.*2340C>T (n.*2340C>T) c.656C>T n.3684C>T n.2874C>T c.2688C>T (p.Asn896=) c.2643C>T (p.Asn881=) c.2598C>T (p.Asn866=) c.2667C>T (p.Asn889=) c.2652C>T (p.Asn884=) c.2631C>T (p.Asn877=) c.2625C>T (p.Asn875=) c.2580C>T (p.Asn860=) c.2571C>T (p.Asn857=) c.2547C>T (p.Asn849=) c.2541C>T (p.Asn847=) c.2514C>T (p.Asn838=) c.2508C>T (p.Asn836=) c.2502C>T (p.Asn834=) c.2451C>T (p.Asn817=) c.2493+194C>T (n.2493+194C>T) c.2370C>T (p.Asn790=) c.2364C>T (p.Asn788=) c.2445+194C>T (n.2445+194C>T) c.2292C>T (p.Asn764=) c.2208+1445C>T (n.2208+1445C>T) c.1512C>T (p.Asn504=) n.2788C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39725106G>A | CA8534328 | ERBB2 | c.2551G>A (p.Val851Met) c.2461G>A (p.Val821Met) c.1723G>A (p.Val575Met) c.2506G>A (p.Val836Met) c.*2341G>A (n.*2341G>A) c.657G>A n.3685G>A n.2875G>A c.2689G>A (p.Val897Met) c.2644G>A (p.Val882Met) c.2599G>A (p.Val867Met) c.2668G>A (p.Val890Met) c.2653G>A (p.Val885Met) c.2632G>A (p.Val878Met) c.2626G>A (p.Val876Met) c.2581G>A (p.Val861Met) c.2572G>A (p.Val858Met) c.2548G>A (p.Val850Met) c.2542G>A (p.Val848Met) c.2515G>A (p.Val839Met) c.2509G>A (p.Val837Met) c.2503G>A (p.Val835Met) c.2452G>A (p.Val818Met) c.2493+195G>A (n.2493+195G>A) c.2371G>A (p.Val791Met) c.2365G>A (p.Val789Met) c.2445+195G>A (n.2445+195G>A) c.2293G>A (p.Val765Met) c.2208+1446G>A (n.2208+1446G>A) c.1513G>A (p.Val505Met) n.2789G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39725106G>C | CA399304464 | ERBB2 | c.2551G>C (p.Val851Leu) c.2461G>C (p.Val821Leu) c.1723G>C (p.Val575Leu) c.2506G>C (p.Val836Leu) c.*2341G>C (n.*2341G>C) c.657G>C n.3685G>C n.2875G>C c.2689G>C (p.Val897Leu) c.2644G>C (p.Val882Leu) c.2599G>C (p.Val867Leu) c.2668G>C (p.Val890Leu) c.2653G>C (p.Val885Leu) c.2632G>C (p.Val878Leu) c.2626G>C (p.Val876Leu) c.2581G>C (p.Val861Leu) c.2572G>C (p.Val858Leu) c.2548G>C (p.Val850Leu) c.2542G>C (p.Val848Leu) c.2515G>C (p.Val839Leu) c.2509G>C (p.Val837Leu) c.2503G>C (p.Val835Leu) c.2452G>C (p.Val818Leu) c.2493+195G>C (n.2493+195G>C) c.2371G>C (p.Val791Leu) c.2365G>C (p.Val789Leu) c.2445+195G>C (n.2445+195G>C) c.2293G>C (p.Val765Leu) c.2208+1446G>C (n.2208+1446G>C) c.1513G>C (p.Val505Leu) n.2789G>C | dbSNP gnomAD v4 |
17 | g.39725106G= | CA2259228139 | ERBB2 | c.2551G= (p.Val851=) c.2461G= (p.Val821=) c.1723G= (p.Val575=) c.2506G= (p.Val836=) c.*2341G= (n.*2341G=) c.657G= n.3685G= n.2875G= c.2689G= (p.Val897=) c.2644G= (p.Val882=) c.2599G= (p.Val867=) c.2668G= (p.Val890=) c.2653G= (p.Val885=) c.2632G= (p.Val878=) c.2626G= (p.Val876=) c.2581G= (p.Val861=) c.2572G= (p.Val858=) c.2548G= (p.Val850=) c.2542G= (p.Val848=) c.2515G= (p.Val839=) c.2509G= (p.Val837=) c.2503G= (p.Val835=) c.2452G= (p.Val818=) c.2493+195G= (n.2493+195G=) c.2371G= (p.Val791=) c.2365G= (p.Val789=) c.2445+195G= (n.2445+195G=) c.2293G= (p.Val765=) c.2208+1446G= (n.2208+1446G=) c.1513G= (p.Val505=) n.2789G= | |
17 | g.39725106G>T | CA399304467 | ERBB2 | c.2551G>T (p.Val851Leu) c.2461G>T (p.Val821Leu) c.1723G>T (p.Val575Leu) c.2506G>T (p.Val836Leu) c.*2341G>T (n.*2341G>T) c.657G>T n.3685G>T n.2875G>T c.2689G>T (p.Val897Leu) c.2644G>T (p.Val882Leu) c.2599G>T (p.Val867Leu) c.2668G>T (p.Val890Leu) c.2653G>T (p.Val885Leu) c.2632G>T (p.Val878Leu) c.2626G>T (p.Val876Leu) c.2581G>T (p.Val861Leu) c.2572G>T (p.Val858Leu) c.2548G>T (p.Val850Leu) c.2542G>T (p.Val848Leu) c.2515G>T (p.Val839Leu) c.2509G>T (p.Val837Leu) c.2503G>T (p.Val835Leu) c.2452G>T (p.Val818Leu) c.2493+195G>T (n.2493+195G>T) c.2371G>T (p.Val791Leu) c.2365G>T (p.Val789Leu) c.2445+195G>T (n.2445+195G>T) c.2293G>T (p.Val765Leu) c.2208+1446G>T (n.2208+1446G>T) c.1513G>T (p.Val505Leu) n.2789G>T | dbSNP |
17 | g.39725107T>A | CA399304476 | ERBB2 | c.2552T>A (p.Val851Glu) c.2462T>A (p.Val821Glu) c.1724T>A (p.Val575Glu) c.2507T>A (p.Val836Glu) c.*2342T>A (n.*2342T>A) c.658T>A n.3686T>A n.2876T>A c.2690T>A (p.Val897Glu) c.2645T>A (p.Val882Glu) c.2600T>A (p.Val867Glu) c.2669T>A (p.Val890Glu) c.2654T>A (p.Val885Glu) c.2633T>A (p.Val878Glu) c.2627T>A (p.Val876Glu) c.2582T>A (p.Val861Glu) c.2573T>A (p.Val858Glu) c.2549T>A (p.Val850Glu) c.2543T>A (p.Val848Glu) c.2516T>A (p.Val839Glu) c.2510T>A (p.Val837Glu) c.2504T>A (p.Val835Glu) c.2453T>A (p.Val818Glu) c.2493+196T>A (n.2493+196T>A) c.2372T>A (p.Val791Glu) c.2366T>A (p.Val789Glu) c.2445+196T>A (n.2445+196T>A) c.2294T>A (p.Val765Glu) c.2208+1447T>A (n.2208+1447T>A) c.1514T>A (p.Val505Glu) n.2790T>A | dbSNP |
17 | g.39725107T>C | CA399304479 | ERBB2 | c.2552T>C (p.Val851Ala) c.2462T>C (p.Val821Ala) c.1724T>C (p.Val575Ala) c.2507T>C (p.Val836Ala) c.*2342T>C (n.*2342T>C) c.658T>C n.3686T>C n.2876T>C c.2690T>C (p.Val897Ala) c.2645T>C (p.Val882Ala) c.2600T>C (p.Val867Ala) c.2669T>C (p.Val890Ala) c.2654T>C (p.Val885Ala) c.2633T>C (p.Val878Ala) c.2627T>C (p.Val876Ala) c.2582T>C (p.Val861Ala) c.2573T>C (p.Val858Ala) c.2549T>C (p.Val850Ala) c.2543T>C (p.Val848Ala) c.2516T>C (p.Val839Ala) c.2510T>C (p.Val837Ala) c.2504T>C (p.Val835Ala) c.2453T>C (p.Val818Ala) c.2493+196T>C (n.2493+196T>C) c.2372T>C (p.Val791Ala) c.2366T>C (p.Val789Ala) c.2445+196T>C (n.2445+196T>C) c.2294T>C (p.Val765Ala) c.2208+1447T>C (n.2208+1447T>C) c.1514T>C (p.Val505Ala) n.2790T>C | |
17 | g.39725107T>G | CA399304472 | ERBB2 | c.2552T>G (p.Val851Gly) c.2462T>G (p.Val821Gly) c.1724T>G (p.Val575Gly) c.2507T>G (p.Val836Gly) c.*2342T>G (n.*2342T>G) c.658T>G n.3686T>G n.2876T>G c.2690T>G (p.Val897Gly) c.2645T>G (p.Val882Gly) c.2600T>G (p.Val867Gly) c.2669T>G (p.Val890Gly) c.2654T>G (p.Val885Gly) c.2633T>G (p.Val878Gly) c.2627T>G (p.Val876Gly) c.2582T>G (p.Val861Gly) c.2573T>G (p.Val858Gly) c.2549T>G (p.Val850Gly) c.2543T>G (p.Val848Gly) c.2516T>G (p.Val839Gly) c.2510T>G (p.Val837Gly) c.2504T>G (p.Val835Gly) c.2453T>G (p.Val818Gly) c.2493+196T>G (n.2493+196T>G) c.2372T>G (p.Val791Gly) c.2366T>G (p.Val789Gly) c.2445+196T>G (n.2445+196T>G) c.2294T>G (p.Val765Gly) c.2208+1447T>G (n.2208+1447T>G) c.1514T>G (p.Val505Gly) n.2790T>G | dbSNP |
17 | g.39725108G>A | CA499890128 | ERBB2 | c.2553G>A (p.Val851=) c.2463G>A (p.Val821=) c.1725G>A (p.Val575=) c.2508G>A (p.Val836=) c.*2343G>A (n.*2343G>A) c.659G>A n.3687G>A n.2877G>A c.2691G>A (p.Val897=) c.2646G>A (p.Val882=) c.2601G>A (p.Val867=) c.2670G>A (p.Val890=) c.2655G>A (p.Val885=) c.2634G>A (p.Val878=) c.2628G>A (p.Val876=) c.2583G>A (p.Val861=) c.2574G>A (p.Val858=) c.2550G>A (p.Val850=) c.2544G>A (p.Val848=) c.2517G>A (p.Val839=) c.2511G>A (p.Val837=) c.2505G>A (p.Val835=) c.2454G>A (p.Val818=) c.2493+197G>A (n.2493+197G>A) c.2373G>A (p.Val791=) c.2367G>A (p.Val789=) c.2445+197G>A (n.2445+197G>A) c.2295G>A (p.Val765=) c.2208+1448G>A (n.2208+1448G>A) c.1515G>A (p.Val505=) n.2791G>A | dbSNP |
17 | g.39725108G>C | CA499890129 | ERBB2 | c.2553G>C (p.Val851=) c.2463G>C (p.Val821=) c.1725G>C (p.Val575=) c.2508G>C (p.Val836=) c.*2343G>C (n.*2343G>C) c.659G>C n.3687G>C n.2877G>C c.2691G>C (p.Val897=) c.2646G>C (p.Val882=) c.2601G>C (p.Val867=) c.2670G>C (p.Val890=) c.2655G>C (p.Val885=) c.2634G>C (p.Val878=) c.2628G>C (p.Val876=) c.2583G>C (p.Val861=) c.2574G>C (p.Val858=) c.2550G>C (p.Val850=) c.2544G>C (p.Val848=) c.2517G>C (p.Val839=) c.2511G>C (p.Val837=) c.2505G>C (p.Val835=) c.2454G>C (p.Val818=) c.2493+197G>C (n.2493+197G>C) c.2373G>C (p.Val791=) c.2367G>C (p.Val789=) c.2445+197G>C (n.2445+197G>C) c.2295G>C (p.Val765=) c.2208+1448G>C (n.2208+1448G>C) c.1515G>C (p.Val505=) n.2791G>C | dbSNP |
17 | g.39725108G>T | CA499890131 | ERBB2 | c.2553G>T (p.Val851=) c.2463G>T (p.Val821=) c.1725G>T (p.Val575=) c.2508G>T (p.Val836=) c.*2343G>T (n.*2343G>T) c.659G>T n.3687G>T n.2877G>T c.2691G>T (p.Val897=) c.2646G>T (p.Val882=) c.2601G>T (p.Val867=) c.2670G>T (p.Val890=) c.2655G>T (p.Val885=) c.2634G>T (p.Val878=) c.2628G>T (p.Val876=) c.2583G>T (p.Val861=) c.2574G>T (p.Val858=) c.2550G>T (p.Val850=) c.2544G>T (p.Val848=) c.2517G>T (p.Val839=) c.2511G>T (p.Val837=) c.2505G>T (p.Val835=) c.2454G>T (p.Val818=) c.2493+197G>T (n.2493+197G>T) c.2373G>T (p.Val791=) c.2367G>T (p.Val789=) c.2445+197G>T (n.2445+197G>T) c.2295G>T (p.Val765=) c.2208+1448G>T (n.2208+1448G>T) c.1515G>T (p.Val505=) n.2791G>T | |
17 | g.39725109C>A | CA399304483 | ERBB2 | c.2554C>A (p.Leu852Met) c.2464C>A (p.Leu822Met) c.1726C>A (p.Leu576Met) c.2509C>A (p.Leu837Met) c.*2344C>A (n.*2344C>A) c.660C>A n.3688C>A n.2878C>A c.2692C>A (p.Leu898Met) c.2647C>A (p.Leu883Met) c.2602C>A (p.Leu868Met) c.2671C>A (p.Leu891Met) c.2656C>A (p.Leu886Met) c.2635C>A (p.Leu879Met) c.2629C>A (p.Leu877Met) c.2584C>A (p.Leu862Met) c.2575C>A (p.Leu859Met) c.2551C>A (p.Leu851Met) c.2545C>A (p.Leu849Met) c.2518C>A (p.Leu840Met) c.2512C>A (p.Leu838Met) c.2506C>A (p.Leu836Met) c.2455C>A (p.Leu819Met) c.2493+198C>A (n.2493+198C>A) c.2374C>A (p.Leu792Met) c.2368C>A (p.Leu790Met) c.2445+198C>A (n.2445+198C>A) c.2296C>A (p.Leu766Met) c.2208+1449C>A (n.2208+1449C>A) c.1516C>A (p.Leu506Met) n.2792C>A | dbSNP |
17 | g.39725109C>G | CA399304487 | ERBB2 | c.2554C>G (p.Leu852Val) c.2464C>G (p.Leu822Val) c.1726C>G (p.Leu576Val) c.2509C>G (p.Leu837Val) c.*2344C>G (n.*2344C>G) c.660C>G n.3688C>G n.2878C>G c.2692C>G (p.Leu898Val) c.2647C>G (p.Leu883Val) c.2602C>G (p.Leu868Val) c.2671C>G (p.Leu891Val) c.2656C>G (p.Leu886Val) c.2635C>G (p.Leu879Val) c.2629C>G (p.Leu877Val) c.2584C>G (p.Leu862Val) c.2575C>G (p.Leu859Val) c.2551C>G (p.Leu851Val) c.2545C>G (p.Leu849Val) c.2518C>G (p.Leu840Val) c.2512C>G (p.Leu838Val) c.2506C>G (p.Leu836Val) c.2455C>G (p.Leu819Val) c.2493+198C>G (n.2493+198C>G) c.2374C>G (p.Leu792Val) c.2368C>G (p.Leu790Val) c.2445+198C>G (n.2445+198C>G) c.2296C>G (p.Leu766Val) c.2208+1449C>G (n.2208+1449C>G) c.1516C>G (p.Leu506Val) n.2792C>G | dbSNP |
17 | g.39725109C>T | CA499890132 | ERBB2 | c.2554C>T (p.Leu852=) c.2464C>T (p.Leu822=) c.1726C>T (p.Leu576=) c.2509C>T (p.Leu837=) c.*2344C>T (n.*2344C>T) c.660C>T n.3688C>T n.2878C>T c.2692C>T (p.Leu898=) c.2647C>T (p.Leu883=) c.2602C>T (p.Leu868=) c.2671C>T (p.Leu891=) c.2656C>T (p.Leu886=) c.2635C>T (p.Leu879=) c.2629C>T (p.Leu877=) c.2584C>T (p.Leu862=) c.2575C>T (p.Leu859=) c.2551C>T (p.Leu851=) c.2545C>T (p.Leu849=) c.2518C>T (p.Leu840=) c.2512C>T (p.Leu838=) c.2506C>T (p.Leu836=) c.2455C>T (p.Leu819=) c.2493+198C>T (n.2493+198C>T) c.2374C>T (p.Leu792=) c.2368C>T (p.Leu790=) c.2445+198C>T (n.2445+198C>T) c.2296C>T (p.Leu766=) c.2208+1449C>T (n.2208+1449C>T) c.1516C>T (p.Leu506=) n.2792C>T | dbSNP |
17 | g.39725110T>A | CA399304499 | ERBB2 | c.2555T>A (p.Leu852Gln) c.2465T>A (p.Leu822Gln) c.1727T>A (p.Leu576Gln) c.2510T>A (p.Leu837Gln) c.*2345T>A (n.*2345T>A) c.661T>A n.3689T>A n.2879T>A c.2693T>A (p.Leu898Gln) c.2648T>A (p.Leu883Gln) c.2603T>A (p.Leu868Gln) c.2672T>A (p.Leu891Gln) c.2657T>A (p.Leu886Gln) c.2636T>A (p.Leu879Gln) c.2630T>A (p.Leu877Gln) c.2585T>A (p.Leu862Gln) c.2576T>A (p.Leu859Gln) c.2552T>A (p.Leu851Gln) c.2546T>A (p.Leu849Gln) c.2519T>A (p.Leu840Gln) c.2513T>A (p.Leu838Gln) c.2507T>A (p.Leu836Gln) c.2456T>A (p.Leu819Gln) c.2493+199T>A (n.2493+199T>A) c.2375T>A (p.Leu792Gln) c.2369T>A (p.Leu790Gln) c.2445+199T>A (n.2445+199T>A) c.2297T>A (p.Leu766Gln) c.2208+1450T>A (n.2208+1450T>A) c.1517T>A (p.Leu506Gln) n.2793T>A | |
17 | g.39725110T>C | CA399304501 | ERBB2 | c.2555T>C (p.Leu852Pro) c.2465T>C (p.Leu822Pro) c.1727T>C (p.Leu576Pro) c.2510T>C (p.Leu837Pro) c.*2345T>C (n.*2345T>C) c.661T>C n.3689T>C n.2879T>C c.2693T>C (p.Leu898Pro) c.2648T>C (p.Leu883Pro) c.2603T>C (p.Leu868Pro) c.2672T>C (p.Leu891Pro) c.2657T>C (p.Leu886Pro) c.2636T>C (p.Leu879Pro) c.2630T>C (p.Leu877Pro) c.2585T>C (p.Leu862Pro) c.2576T>C (p.Leu859Pro) c.2552T>C (p.Leu851Pro) c.2546T>C (p.Leu849Pro) c.2519T>C (p.Leu840Pro) c.2513T>C (p.Leu838Pro) c.2507T>C (p.Leu836Pro) c.2456T>C (p.Leu819Pro) c.2493+199T>C (n.2493+199T>C) c.2375T>C (p.Leu792Pro) c.2369T>C (p.Leu790Pro) c.2445+199T>C (n.2445+199T>C) c.2297T>C (p.Leu766Pro) c.2208+1450T>C (n.2208+1450T>C) c.1517T>C (p.Leu506Pro) n.2793T>C | |
17 | g.39725110T>G | CA399304504 | ERBB2 | c.2555T>G (p.Leu852Arg) c.2465T>G (p.Leu822Arg) c.1727T>G (p.Leu576Arg) c.2510T>G (p.Leu837Arg) c.*2345T>G (n.*2345T>G) c.661T>G n.3689T>G n.2879T>G c.2693T>G (p.Leu898Arg) c.2648T>G (p.Leu883Arg) c.2603T>G (p.Leu868Arg) c.2672T>G (p.Leu891Arg) c.2657T>G (p.Leu886Arg) c.2636T>G (p.Leu879Arg) c.2630T>G (p.Leu877Arg) c.2585T>G (p.Leu862Arg) c.2576T>G (p.Leu859Arg) c.2552T>G (p.Leu851Arg) c.2546T>G (p.Leu849Arg) c.2519T>G (p.Leu840Arg) c.2513T>G (p.Leu838Arg) c.2507T>G (p.Leu836Arg) c.2456T>G (p.Leu819Arg) c.2493+199T>G (n.2493+199T>G) c.2375T>G (p.Leu792Arg) c.2369T>G (p.Leu790Arg) c.2445+199T>G (n.2445+199T>G) c.2297T>G (p.Leu766Arg) c.2208+1450T>G (n.2208+1450T>G) c.1517T>G (p.Leu506Arg) n.2793T>G | |
17 | g.39725111G>A | CA499890136 | ERBB2 | c.2556G>A (p.Leu852=) c.2466G>A (p.Leu822=) c.1728G>A (p.Leu576=) c.2511G>A (p.Leu837=) c.*2346G>A (n.*2346G>A) c.662G>A n.3690G>A n.2880G>A c.2694G>A (p.Leu898=) c.2649G>A (p.Leu883=) c.2604G>A (p.Leu868=) c.2673G>A (p.Leu891=) c.2658G>A (p.Leu886=) c.2637G>A (p.Leu879=) c.2631G>A (p.Leu877=) c.2586G>A (p.Leu862=) c.2577G>A (p.Leu859=) c.2553G>A (p.Leu851=) c.2547G>A (p.Leu849=) c.2520G>A (p.Leu840=) c.2514G>A (p.Leu838=) c.2508G>A (p.Leu836=) c.2457G>A (p.Leu819=) c.2493+200G>A (n.2493+200G>A) c.2376G>A (p.Leu792=) c.2370G>A (p.Leu790=) c.2445+200G>A (n.2445+200G>A) c.2298G>A (p.Leu766=) c.2208+1451G>A (n.2208+1451G>A) c.1518G>A (p.Leu506=) n.2794G>A | dbSNP |
17 | g.39725111G>C | CA499890134 | ERBB2 | c.2556G>C (p.Leu852=) c.2466G>C (p.Leu822=) c.1728G>C (p.Leu576=) c.2511G>C (p.Leu837=) c.*2346G>C (n.*2346G>C) c.662G>C n.3690G>C n.2880G>C c.2694G>C (p.Leu898=) c.2649G>C (p.Leu883=) c.2604G>C (p.Leu868=) c.2673G>C (p.Leu891=) c.2658G>C (p.Leu886=) c.2637G>C (p.Leu879=) c.2631G>C (p.Leu877=) c.2586G>C (p.Leu862=) c.2577G>C (p.Leu859=) c.2553G>C (p.Leu851=) c.2547G>C (p.Leu849=) c.2520G>C (p.Leu840=) c.2514G>C (p.Leu838=) c.2508G>C (p.Leu836=) c.2457G>C (p.Leu819=) c.2493+200G>C (n.2493+200G>C) c.2376G>C (p.Leu792=) c.2370G>C (p.Leu790=) c.2445+200G>C (n.2445+200G>C) c.2298G>C (p.Leu766=) c.2208+1451G>C (n.2208+1451G>C) c.1518G>C (p.Leu506=) n.2794G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39725111G= | CA2259228140 | ERBB2 | c.2556G= (p.Leu852=) c.2466G= (p.Leu822=) c.1728G= (p.Leu576=) c.2511G= (p.Leu837=) c.*2346G= (n.*2346G=) c.662G= n.3690G= n.2880G= c.2694G= (p.Leu898=) c.2649G= (p.Leu883=) c.2604G= (p.Leu868=) c.2673G= (p.Leu891=) c.2658G= (p.Leu886=) c.2637G= (p.Leu879=) c.2631G= (p.Leu877=) c.2586G= (p.Leu862=) c.2577G= (p.Leu859=) c.2553G= (p.Leu851=) c.2547G= (p.Leu849=) c.2520G= (p.Leu840=) c.2514G= (p.Leu838=) c.2508G= (p.Leu836=) c.2457G= (p.Leu819=) c.2493+200G= (n.2493+200G=) c.2376G= (p.Leu792=) c.2370G= (p.Leu790=) c.2445+200G= (n.2445+200G=) c.2298G= (p.Leu766=) c.2208+1451G= (n.2208+1451G=) c.1518G= (p.Leu506=) n.2794G= | |
17 | g.39725111G>T | CA499890133 | ERBB2 | c.2556G>T (p.Leu852=) c.2466G>T (p.Leu822=) c.1728G>T (p.Leu576=) c.2511G>T (p.Leu837=) c.*2346G>T (n.*2346G>T) c.662G>T n.3690G>T n.2880G>T c.2694G>T (p.Leu898=) c.2649G>T (p.Leu883=) c.2604G>T (p.Leu868=) c.2673G>T (p.Leu891=) c.2658G>T (p.Leu886=) c.2637G>T (p.Leu879=) c.2631G>T (p.Leu877=) c.2586G>T (p.Leu862=) c.2577G>T (p.Leu859=) c.2553G>T (p.Leu851=) c.2547G>T (p.Leu849=) c.2520G>T (p.Leu840=) c.2514G>T (p.Leu838=) c.2508G>T (p.Leu836=) c.2457G>T (p.Leu819=) c.2493+200G>T (n.2493+200G>T) c.2376G>T (p.Leu792=) c.2370G>T (p.Leu790=) c.2445+200G>T (n.2445+200G>T) c.2298G>T (p.Leu766=) c.2208+1451G>T (n.2208+1451G>T) c.1518G>T (p.Leu506=) n.2794G>T | |
17 | g.39725112G>A | CA399304523 | ERBB2 | c.2557G>A (p.Val853Ile) c.2467G>A (p.Val823Ile) c.1729G>A (p.Val577Ile) c.2512G>A (p.Val838Ile) c.*2347G>A (n.*2347G>A) c.663G>A n.3691G>A n.2881G>A c.2695G>A (p.Val899Ile) c.2650G>A (p.Val884Ile) c.2605G>A (p.Val869Ile) c.2674G>A (p.Val892Ile) c.2659G>A (p.Val887Ile) c.2638G>A (p.Val880Ile) c.2632G>A (p.Val878Ile) c.2587G>A (p.Val863Ile) c.2578G>A (p.Val860Ile) c.2554G>A (p.Val852Ile) c.2548G>A (p.Val850Ile) c.2521G>A (p.Val841Ile) c.2515G>A (p.Val839Ile) c.2509G>A (p.Val837Ile) c.2458G>A (p.Val820Ile) c.2493+201G>A (n.2493+201G>A) c.2377G>A (p.Val793Ile) c.2371G>A (p.Val791Ile) c.2445+201G>A (n.2445+201G>A) c.2299G>A (p.Val767Ile) c.2208+1452G>A (n.2208+1452G>A) c.1519G>A (p.Val507Ile) n.2795G>A | dbSNP |
17 | g.39725112G>C | CA399304509 | ERBB2 | c.2557G>C (p.Val853Leu) c.2467G>C (p.Val823Leu) c.1729G>C (p.Val577Leu) c.2512G>C (p.Val838Leu) c.*2347G>C (n.*2347G>C) c.663G>C n.3691G>C n.2881G>C c.2695G>C (p.Val899Leu) c.2650G>C (p.Val884Leu) c.2605G>C (p.Val869Leu) c.2674G>C (p.Val892Leu) c.2659G>C (p.Val887Leu) c.2638G>C (p.Val880Leu) c.2632G>C (p.Val878Leu) c.2587G>C (p.Val863Leu) c.2578G>C (p.Val860Leu) c.2554G>C (p.Val852Leu) c.2548G>C (p.Val850Leu) c.2521G>C (p.Val841Leu) c.2515G>C (p.Val839Leu) c.2509G>C (p.Val837Leu) c.2458G>C (p.Val820Leu) c.2493+201G>C (n.2493+201G>C) c.2377G>C (p.Val793Leu) c.2371G>C (p.Val791Leu) c.2445+201G>C (n.2445+201G>C) c.2299G>C (p.Val767Leu) c.2208+1452G>C (n.2208+1452G>C) c.1519G>C (p.Val507Leu) n.2795G>C | dbSNP |
17 | g.39725112G>T | CA399304513 | ERBB2 | c.2557G>T (p.Val853Phe) c.2467G>T (p.Val823Phe) c.1729G>T (p.Val577Phe) c.2512G>T (p.Val838Phe) c.*2347G>T (n.*2347G>T) c.663G>T n.3691G>T n.2881G>T c.2695G>T (p.Val899Phe) c.2650G>T (p.Val884Phe) c.2605G>T (p.Val869Phe) c.2674G>T (p.Val892Phe) c.2659G>T (p.Val887Phe) c.2638G>T (p.Val880Phe) c.2632G>T (p.Val878Phe) c.2587G>T (p.Val863Phe) c.2578G>T (p.Val860Phe) c.2554G>T (p.Val852Phe) c.2548G>T (p.Val850Phe) c.2521G>T (p.Val841Phe) c.2515G>T (p.Val839Phe) c.2509G>T (p.Val837Phe) c.2458G>T (p.Val820Phe) c.2493+201G>T (n.2493+201G>T) c.2377G>T (p.Val793Phe) c.2371G>T (p.Val791Phe) c.2445+201G>T (n.2445+201G>T) c.2299G>T (p.Val767Phe) c.2208+1452G>T (n.2208+1452G>T) c.1519G>T (p.Val507Phe) n.2795G>T | dbSNP |
17 | g.39725113T>A | CA399304528 | ERBB2 | c.2558T>A (p.Val853Asp) c.2468T>A (p.Val823Asp) c.1730T>A (p.Val577Asp) c.2513T>A (p.Val838Asp) c.*2348T>A (n.*2348T>A) c.664T>A n.3692T>A n.2882T>A c.2696T>A (p.Val899Asp) c.2651T>A (p.Val884Asp) c.2606T>A (p.Val869Asp) c.2675T>A (p.Val892Asp) c.2660T>A (p.Val887Asp) c.2639T>A (p.Val880Asp) c.2633T>A (p.Val878Asp) c.2588T>A (p.Val863Asp) c.2579T>A (p.Val860Asp) c.2555T>A (p.Val852Asp) c.2549T>A (p.Val850Asp) c.2522T>A (p.Val841Asp) c.2516T>A (p.Val839Asp) c.2510T>A (p.Val837Asp) c.2459T>A (p.Val820Asp) c.2493+202T>A (n.2493+202T>A) c.2378T>A (p.Val793Asp) c.2372T>A (p.Val791Asp) c.2445+202T>A (n.2445+202T>A) c.2300T>A (p.Val767Asp) c.2208+1453T>A (n.2208+1453T>A) c.1520T>A (p.Val507Asp) n.2796T>A | dbSNP |
17 | g.39725113T>C | CA399304531 | ERBB2 | c.2558T>C (p.Val853Ala) c.2468T>C (p.Val823Ala) c.1730T>C (p.Val577Ala) c.2513T>C (p.Val838Ala) c.*2348T>C (n.*2348T>C) c.664T>C n.3692T>C n.2882T>C c.2696T>C (p.Val899Ala) c.2651T>C (p.Val884Ala) c.2606T>C (p.Val869Ala) c.2675T>C (p.Val892Ala) c.2660T>C (p.Val887Ala) c.2639T>C (p.Val880Ala) c.2633T>C (p.Val878Ala) c.2588T>C (p.Val863Ala) c.2579T>C (p.Val860Ala) c.2555T>C (p.Val852Ala) c.2549T>C (p.Val850Ala) c.2522T>C (p.Val841Ala) c.2516T>C (p.Val839Ala) c.2510T>C (p.Val837Ala) c.2459T>C (p.Val820Ala) c.2493+202T>C (n.2493+202T>C) c.2378T>C (p.Val793Ala) c.2372T>C (p.Val791Ala) c.2445+202T>C (n.2445+202T>C) c.2300T>C (p.Val767Ala) c.2208+1453T>C (n.2208+1453T>C) c.1520T>C (p.Val507Ala) n.2796T>C | dbSNP |
17 | g.39725113T>G | CA399304537 | ERBB2 | c.2558T>G (p.Val853Gly) c.2468T>G (p.Val823Gly) c.1730T>G (p.Val577Gly) c.2513T>G (p.Val838Gly) c.*2348T>G (n.*2348T>G) c.664T>G n.3692T>G n.2882T>G c.2696T>G (p.Val899Gly) c.2651T>G (p.Val884Gly) c.2606T>G (p.Val869Gly) c.2675T>G (p.Val892Gly) c.2660T>G (p.Val887Gly) c.2639T>G (p.Val880Gly) c.2633T>G (p.Val878Gly) c.2588T>G (p.Val863Gly) c.2579T>G (p.Val860Gly) c.2555T>G (p.Val852Gly) c.2549T>G (p.Val850Gly) c.2522T>G (p.Val841Gly) c.2516T>G (p.Val839Gly) c.2510T>G (p.Val837Gly) c.2459T>G (p.Val820Gly) c.2493+202T>G (n.2493+202T>G) c.2378T>G (p.Val793Gly) c.2372T>G (p.Val791Gly) c.2445+202T>G (n.2445+202T>G) c.2300T>G (p.Val767Gly) c.2208+1453T>G (n.2208+1453T>G) c.1520T>G (p.Val507Gly) n.2796T>G | dbSNP |
17 | g.39725114C>A | CA499890138 | ERBB2 | c.2559C>A (p.Val853=) c.2469C>A (p.Val823=) c.1731C>A (p.Val577=) c.2514C>A (p.Val838=) c.*2349C>A (n.*2349C>A) c.665C>A n.3693C>A n.2883C>A c.2697C>A (p.Val899=) c.2652C>A (p.Val884=) c.2607C>A (p.Val869=) c.2676C>A (p.Val892=) c.2661C>A (p.Val887=) c.2640C>A (p.Val880=) c.2634C>A (p.Val878=) c.2589C>A (p.Val863=) c.2580C>A (p.Val860=) c.2556C>A (p.Val852=) c.2550C>A (p.Val850=) c.2523C>A (p.Val841=) c.2517C>A (p.Val839=) c.2511C>A (p.Val837=) c.2460C>A (p.Val820=) c.2493+203C>A (n.2493+203C>A) c.2379C>A (p.Val793=) c.2373C>A (p.Val791=) c.2445+203C>A (n.2445+203C>A) c.2301C>A (p.Val767=) c.2208+1454C>A (n.2208+1454C>A) c.1521C>A (p.Val507=) n.2797C>A | dbSNP |
17 | g.39725114C>G | CA499890139 | ERBB2 | c.2559C>G (p.Val853=) c.2469C>G (p.Val823=) c.1731C>G (p.Val577=) c.2514C>G (p.Val838=) c.*2349C>G (n.*2349C>G) c.665C>G n.3693C>G n.2883C>G c.2697C>G (p.Val899=) c.2652C>G (p.Val884=) c.2607C>G (p.Val869=) c.2676C>G (p.Val892=) c.2661C>G (p.Val887=) c.2640C>G (p.Val880=) c.2634C>G (p.Val878=) c.2589C>G (p.Val863=) c.2580C>G (p.Val860=) c.2556C>G (p.Val852=) c.2550C>G (p.Val850=) c.2523C>G (p.Val841=) c.2517C>G (p.Val839=) c.2511C>G (p.Val837=) c.2460C>G (p.Val820=) c.2493+203C>G (n.2493+203C>G) c.2379C>G (p.Val793=) c.2373C>G (p.Val791=) c.2445+203C>G (n.2445+203C>G) c.2301C>G (p.Val767=) c.2208+1454C>G (n.2208+1454C>G) c.1521C>G (p.Val507=) n.2797C>G | dbSNP |
17 | g.39725114C>T | CA499890140 | ERBB2 | c.2559C>T (p.Val853=) c.2469C>T (p.Val823=) c.1731C>T (p.Val577=) c.2514C>T (p.Val838=) c.*2349C>T (n.*2349C>T) c.665C>T n.3693C>T n.2883C>T c.2697C>T (p.Val899=) c.2652C>T (p.Val884=) c.2607C>T (p.Val869=) c.2676C>T (p.Val892=) c.2661C>T (p.Val887=) c.2640C>T (p.Val880=) c.2634C>T (p.Val878=) c.2589C>T (p.Val863=) c.2580C>T (p.Val860=) c.2556C>T (p.Val852=) c.2550C>T (p.Val850=) c.2523C>T (p.Val841=) c.2517C>T (p.Val839=) c.2511C>T (p.Val837=) c.2460C>T (p.Val820=) c.2493+203C>T (n.2493+203C>T) c.2379C>T (p.Val793=) c.2373C>T (p.Val791=) c.2445+203C>T (n.2445+203C>T) c.2301C>T (p.Val767=) c.2208+1454C>T (n.2208+1454C>T) c.1521C>T (p.Val507=) n.2797C>T | dbSNP |
17 | g.39725115A>C | CA399304543 | ERBB2 | c.2560A>C (p.Lys854Gln) c.2470A>C (p.Lys824Gln) c.1732A>C (p.Lys578Gln) c.2515A>C (p.Lys839Gln) c.*2350A>C (n.*2350A>C) c.666A>C n.3694A>C n.2884A>C c.2698A>C (p.Lys900Gln) c.2653A>C (p.Lys885Gln) c.2608A>C (p.Lys870Gln) c.2677A>C (p.Lys893Gln) c.2662A>C (p.Lys888Gln) c.2641A>C (p.Lys881Gln) c.2635A>C (p.Lys879Gln) c.2590A>C (p.Lys864Gln) c.2581A>C (p.Lys861Gln) c.2557A>C (p.Lys853Gln) c.2551A>C (p.Lys851Gln) c.2524A>C (p.Lys842Gln) c.2518A>C (p.Lys840Gln) c.2512A>C (p.Lys838Gln) c.2461A>C (p.Lys821Gln) c.2493+204A>C (n.2493+204A>C) c.2380A>C (p.Lys794Gln) c.2374A>C (p.Lys792Gln) c.2445+204A>C (n.2445+204A>C) c.2302A>C (p.Lys768Gln) c.2208+1455A>C (n.2208+1455A>C) c.1522A>C (p.Lys508Gln) n.2798A>C | dbSNP |
17 | g.39725115A>G | CA399304547 | ERBB2 | c.2560A>G (p.Lys854Glu) c.2470A>G (p.Lys824Glu) c.1732A>G (p.Lys578Glu) c.2515A>G (p.Lys839Glu) c.*2350A>G (n.*2350A>G) c.666A>G n.3694A>G n.2884A>G c.2698A>G (p.Lys900Glu) c.2653A>G (p.Lys885Glu) c.2608A>G (p.Lys870Glu) c.2677A>G (p.Lys893Glu) c.2662A>G (p.Lys888Glu) c.2641A>G (p.Lys881Glu) c.2635A>G (p.Lys879Glu) c.2590A>G (p.Lys864Glu) c.2581A>G (p.Lys861Glu) c.2557A>G (p.Lys853Glu) c.2551A>G (p.Lys851Glu) c.2524A>G (p.Lys842Glu) c.2518A>G (p.Lys840Glu) c.2512A>G (p.Lys838Glu) c.2461A>G (p.Lys821Glu) c.2493+204A>G (n.2493+204A>G) c.2380A>G (p.Lys794Glu) c.2374A>G (p.Lys792Glu) c.2445+204A>G (n.2445+204A>G) c.2302A>G (p.Lys768Glu) c.2208+1455A>G (n.2208+1455A>G) c.1522A>G (p.Lys508Glu) n.2798A>G | dbSNP |
17 | g.39725115A>T | CA399304552 | ERBB2 | c.2560A>T (p.Lys854Ter) c.2470A>T (p.Lys824Ter) c.1732A>T (p.Lys578Ter) c.2515A>T (p.Lys839Ter) c.*2350A>T (n.*2350A>T) c.666A>T n.3694A>T n.2884A>T c.2698A>T (p.Lys900Ter) c.2653A>T (p.Lys885Ter) c.2608A>T (p.Lys870Ter) c.2677A>T (p.Lys893Ter) c.2662A>T (p.Lys888Ter) c.2641A>T (p.Lys881Ter) c.2635A>T (p.Lys879Ter) c.2590A>T (p.Lys864Ter) c.2581A>T (p.Lys861Ter) c.2557A>T (p.Lys853Ter) c.2551A>T (p.Lys851Ter) c.2524A>T (p.Lys842Ter) c.2518A>T (p.Lys840Ter) c.2512A>T (p.Lys838Ter) c.2461A>T (p.Lys821Ter) c.2493+204A>T (n.2493+204A>T) c.2380A>T (p.Lys794Ter) c.2374A>T (p.Lys792Ter) c.2445+204A>T (n.2445+204A>T) c.2302A>T (p.Lys768Ter) c.2208+1455A>T (n.2208+1455A>T) c.1522A>T (p.Lys508Ter) n.2798A>T | dbSNP |
17 | g.39725116A>C | CA399304560 | ERBB2 | c.2561A>C (p.Lys854Thr) c.2471A>C (p.Lys824Thr) c.1733A>C (p.Lys578Thr) c.2516A>C (p.Lys839Thr) c.*2351A>C (n.*2351A>C) c.667A>C n.3695A>C n.2885A>C c.2699A>C (p.Lys900Thr) c.2654A>C (p.Lys885Thr) c.2609A>C (p.Lys870Thr) c.2678A>C (p.Lys893Thr) c.2663A>C (p.Lys888Thr) c.2642A>C (p.Lys881Thr) c.2636A>C (p.Lys879Thr) c.2591A>C (p.Lys864Thr) c.2582A>C (p.Lys861Thr) c.2558A>C (p.Lys853Thr) c.2552A>C (p.Lys851Thr) c.2525A>C (p.Lys842Thr) c.2519A>C (p.Lys840Thr) c.2513A>C (p.Lys838Thr) c.2462A>C (p.Lys821Thr) c.2493+205A>C (n.2493+205A>C) c.2381A>C (p.Lys794Thr) c.2375A>C (p.Lys792Thr) c.2445+205A>C (n.2445+205A>C) c.2303A>C (p.Lys768Thr) c.2208+1456A>C (n.2208+1456A>C) c.1523A>C (p.Lys508Thr) n.2799A>C | |
17 | g.39725116A>G | CA399304563 | ERBB2 | c.2561A>G (p.Lys854Arg) c.2471A>G (p.Lys824Arg) c.1733A>G (p.Lys578Arg) c.2516A>G (p.Lys839Arg) c.*2351A>G (n.*2351A>G) c.667A>G n.3695A>G n.2885A>G c.2699A>G (p.Lys900Arg) c.2654A>G (p.Lys885Arg) c.2609A>G (p.Lys870Arg) c.2678A>G (p.Lys893Arg) c.2663A>G (p.Lys888Arg) c.2642A>G (p.Lys881Arg) c.2636A>G (p.Lys879Arg) c.2591A>G (p.Lys864Arg) c.2582A>G (p.Lys861Arg) c.2558A>G (p.Lys853Arg) c.2552A>G (p.Lys851Arg) c.2525A>G (p.Lys842Arg) c.2519A>G (p.Lys840Arg) c.2513A>G (p.Lys838Arg) c.2462A>G (p.Lys821Arg) c.2493+205A>G (n.2493+205A>G) c.2381A>G (p.Lys794Arg) c.2375A>G (p.Lys792Arg) c.2445+205A>G (n.2445+205A>G) c.2303A>G (p.Lys768Arg) c.2208+1456A>G (n.2208+1456A>G) c.1523A>G (p.Lys508Arg) n.2799A>G | dbSNP |
17 | g.39725116A>T | CA399304557 | ERBB2 | c.2561A>T (p.Lys854Met) c.2471A>T (p.Lys824Met) c.1733A>T (p.Lys578Met) c.2516A>T (p.Lys839Met) c.*2351A>T (n.*2351A>T) c.667A>T n.3695A>T n.2885A>T c.2699A>T (p.Lys900Met) c.2654A>T (p.Lys885Met) c.2609A>T (p.Lys870Met) c.2678A>T (p.Lys893Met) c.2663A>T (p.Lys888Met) c.2642A>T (p.Lys881Met) c.2636A>T (p.Lys879Met) c.2591A>T (p.Lys864Met) c.2582A>T (p.Lys861Met) c.2558A>T (p.Lys853Met) c.2552A>T (p.Lys851Met) c.2525A>T (p.Lys842Met) c.2519A>T (p.Lys840Met) c.2513A>T (p.Lys838Met) c.2462A>T (p.Lys821Met) c.2493+205A>T (n.2493+205A>T) c.2381A>T (p.Lys794Met) c.2375A>T (p.Lys792Met) c.2445+205A>T (n.2445+205A>T) c.2303A>T (p.Lys768Met) c.2208+1456A>T (n.2208+1456A>T) c.1523A>T (p.Lys508Met) n.2799A>T | dbSNP |
17 | g.39725117G>A | CA499890142 | ERBB2 | c.2562G>A (p.Lys854=) c.2472G>A (p.Lys824=) c.1734G>A (p.Lys578=) c.2517G>A (p.Lys839=) c.*2352G>A (n.*2352G>A) c.668G>A n.3696G>A n.2886G>A c.2700G>A (p.Lys900=) c.2655G>A (p.Lys885=) c.2610G>A (p.Lys870=) c.2679G>A (p.Lys893=) c.2664G>A (p.Lys888=) c.2643G>A (p.Lys881=) c.2637G>A (p.Lys879=) c.2592G>A (p.Lys864=) c.2583G>A (p.Lys861=) c.2559G>A (p.Lys853=) c.2553G>A (p.Lys851=) c.2526G>A (p.Lys842=) c.2520G>A (p.Lys840=) c.2514G>A (p.Lys838=) c.2463G>A (p.Lys821=) c.2493+206G>A (n.2493+206G>A) c.2382G>A (p.Lys794=) c.2376G>A (p.Lys792=) c.2445+206G>A (n.2445+206G>A) c.2304G>A (p.Lys768=) c.2208+1457G>A (n.2208+1457G>A) c.1524G>A (p.Lys508=) n.2800G>A | dbSNP gnomAD v4 |
17 | g.39725117G>C | CA399304570 | ERBB2 | c.2562G>C (p.Lys854Asn) c.2472G>C (p.Lys824Asn) c.1734G>C (p.Lys578Asn) c.2517G>C (p.Lys839Asn) c.*2352G>C (n.*2352G>C) c.668G>C n.3696G>C n.2886G>C c.2700G>C (p.Lys900Asn) c.2655G>C (p.Lys885Asn) c.2610G>C (p.Lys870Asn) c.2679G>C (p.Lys893Asn) c.2664G>C (p.Lys888Asn) c.2643G>C (p.Lys881Asn) c.2637G>C (p.Lys879Asn) c.2592G>C (p.Lys864Asn) c.2583G>C (p.Lys861Asn) c.2559G>C (p.Lys853Asn) c.2553G>C (p.Lys851Asn) c.2526G>C (p.Lys842Asn) c.2520G>C (p.Lys840Asn) c.2514G>C (p.Lys838Asn) c.2463G>C (p.Lys821Asn) c.2493+206G>C (n.2493+206G>C) c.2382G>C (p.Lys794Asn) c.2376G>C (p.Lys792Asn) c.2445+206G>C (n.2445+206G>C) c.2304G>C (p.Lys768Asn) c.2208+1457G>C (n.2208+1457G>C) c.1524G>C (p.Lys508Asn) n.2800G>C | dbSNP |
17 | g.39725117G>T | CA399304573 | ERBB2 | c.2562G>T (p.Lys854Asn) c.2472G>T (p.Lys824Asn) c.1734G>T (p.Lys578Asn) c.2517G>T (p.Lys839Asn) c.*2352G>T (n.*2352G>T) c.668G>T n.3696G>T n.2886G>T c.2700G>T (p.Lys900Asn) c.2655G>T (p.Lys885Asn) c.2610G>T (p.Lys870Asn) c.2679G>T (p.Lys893Asn) c.2664G>T (p.Lys888Asn) c.2643G>T (p.Lys881Asn) c.2637G>T (p.Lys879Asn) c.2592G>T (p.Lys864Asn) c.2583G>T (p.Lys861Asn) c.2559G>T (p.Lys853Asn) c.2553G>T (p.Lys851Asn) c.2526G>T (p.Lys842Asn) c.2520G>T (p.Lys840Asn) c.2514G>T (p.Lys838Asn) c.2463G>T (p.Lys821Asn) c.2493+206G>T (n.2493+206G>T) c.2382G>T (p.Lys794Asn) c.2376G>T (p.Lys792Asn) c.2445+206G>T (n.2445+206G>T) c.2304G>T (p.Lys768Asn) c.2208+1457G>T (n.2208+1457G>T) c.1524G>T (p.Lys508Asn) n.2800G>T | dbSNP |
17 | g.39725118A= | CA2259228141 | ERBB2 | c.2563A= (p.Ser855=) c.2473A= (p.Ser825=) c.1735A= (p.Ser579=) c.2518A= (p.Ser840=) c.*2353A= (n.*2353A=) c.669A= n.3697A= n.2887A= c.2701A= (p.Ser901=) c.2656A= (p.Ser886=) c.2611A= (p.Ser871=) c.2680A= (p.Ser894=) c.2665A= (p.Ser889=) c.2644A= (p.Ser882=) c.2638A= (p.Ser880=) c.2593A= (p.Ser865=) c.2584A= (p.Ser862=) c.2560A= (p.Ser854=) c.2554A= (p.Ser852=) c.2527A= (p.Ser843=) c.2521A= (p.Ser841=) c.2515A= (p.Ser839=) c.2464A= (p.Ser822=) c.2493+207A= (n.2493+207A=) c.2383A= (p.Ser795=) c.2377A= (p.Ser793=) c.2445+207A= (n.2445+207A=) c.2305A= (p.Ser769=) c.2208+1458A= (n.2208+1458A=) c.1525A= (p.Ser509=) n.2801A= | |
17 | g.39725118A>C | CA399304574 | ERBB2 | c.2563A>C (p.Ser855Arg) c.2473A>C (p.Ser825Arg) c.1735A>C (p.Ser579Arg) c.2518A>C (p.Ser840Arg) c.*2353A>C (n.*2353A>C) c.669A>C n.3697A>C n.2887A>C c.2701A>C (p.Ser901Arg) c.2656A>C (p.Ser886Arg) c.2611A>C (p.Ser871Arg) c.2680A>C (p.Ser894Arg) c.2665A>C (p.Ser889Arg) c.2644A>C (p.Ser882Arg) c.2638A>C (p.Ser880Arg) c.2593A>C (p.Ser865Arg) c.2584A>C (p.Ser862Arg) c.2560A>C (p.Ser854Arg) c.2554A>C (p.Ser852Arg) c.2527A>C (p.Ser843Arg) c.2521A>C (p.Ser841Arg) c.2515A>C (p.Ser839Arg) c.2464A>C (p.Ser822Arg) c.2493+207A>C (n.2493+207A>C) c.2383A>C (p.Ser795Arg) c.2377A>C (p.Ser793Arg) c.2445+207A>C (n.2445+207A>C) c.2305A>C (p.Ser769Arg) c.2208+1458A>C (n.2208+1458A>C) c.1525A>C (p.Ser509Arg) n.2801A>C | |
17 | g.39725118A>G | CA8534329 | ERBB2 | c.2563A>G (p.Ser855Gly) c.2473A>G (p.Ser825Gly) c.1735A>G (p.Ser579Gly) c.2518A>G (p.Ser840Gly) c.*2353A>G (n.*2353A>G) c.669A>G n.3697A>G n.2887A>G c.2701A>G (p.Ser901Gly) c.2656A>G (p.Ser886Gly) c.2611A>G (p.Ser871Gly) c.2680A>G (p.Ser894Gly) c.2665A>G (p.Ser889Gly) c.2644A>G (p.Ser882Gly) c.2638A>G (p.Ser880Gly) c.2593A>G (p.Ser865Gly) c.2584A>G (p.Ser862Gly) c.2560A>G (p.Ser854Gly) c.2554A>G (p.Ser852Gly) c.2527A>G (p.Ser843Gly) c.2521A>G (p.Ser841Gly) c.2515A>G (p.Ser839Gly) c.2464A>G (p.Ser822Gly) c.2493+207A>G (n.2493+207A>G) c.2383A>G (p.Ser795Gly) c.2377A>G (p.Ser793Gly) c.2445+207A>G (n.2445+207A>G) c.2305A>G (p.Ser769Gly) c.2208+1458A>G (n.2208+1458A>G) c.1525A>G (p.Ser509Gly) n.2801A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39725118A>T | CA399304575 | ERBB2 | c.2563A>T (p.Ser855Cys) c.2473A>T (p.Ser825Cys) c.1735A>T (p.Ser579Cys) c.2518A>T (p.Ser840Cys) c.*2353A>T (n.*2353A>T) c.669A>T n.3697A>T n.2887A>T c.2701A>T (p.Ser901Cys) c.2656A>T (p.Ser886Cys) c.2611A>T (p.Ser871Cys) c.2680A>T (p.Ser894Cys) c.2665A>T (p.Ser889Cys) c.2644A>T (p.Ser882Cys) c.2638A>T (p.Ser880Cys) c.2593A>T (p.Ser865Cys) c.2584A>T (p.Ser862Cys) c.2560A>T (p.Ser854Cys) c.2554A>T (p.Ser852Cys) c.2527A>T (p.Ser843Cys) c.2521A>T (p.Ser841Cys) c.2515A>T (p.Ser839Cys) c.2464A>T (p.Ser822Cys) c.2493+207A>T (n.2493+207A>T) c.2383A>T (p.Ser795Cys) c.2377A>T (p.Ser793Cys) c.2445+207A>T (n.2445+207A>T) c.2305A>T (p.Ser769Cys) c.2208+1458A>T (n.2208+1458A>T) c.1525A>T (p.Ser509Cys) n.2801A>T | dbSNP |
17 | g.39725119G>A | CA399304578 | ERBB2 | c.2564G>A (p.Ser855Asn) c.2474G>A (p.Ser825Asn) c.1736G>A (p.Ser579Asn) c.2519G>A (p.Ser840Asn) c.*2354G>A (n.*2354G>A) c.670G>A n.3698G>A n.2888G>A c.2702G>A (p.Ser901Asn) c.2657G>A (p.Ser886Asn) c.2612G>A (p.Ser871Asn) c.2681G>A (p.Ser894Asn) c.2666G>A (p.Ser889Asn) c.2645G>A (p.Ser882Asn) c.2639G>A (p.Ser880Asn) c.2594G>A (p.Ser865Asn) c.2585G>A (p.Ser862Asn) c.2561G>A (p.Ser854Asn) c.2555G>A (p.Ser852Asn) c.2528G>A (p.Ser843Asn) c.2522G>A (p.Ser841Asn) c.2516G>A (p.Ser839Asn) c.2465G>A (p.Ser822Asn) c.2494-208G>A (n.2494-208G>A) c.2384G>A (p.Ser795Asn) c.2378G>A (p.Ser793Asn) c.2446-208G>A (n.2446-208G>A) c.2306G>A (p.Ser769Asn) c.2208+1459G>A (n.2208+1459G>A) c.1526G>A (p.Ser509Asn) n.2802G>A | dbSNP gnomAD v4 |
17 | g.39725119G>C | CA399304584 | ERBB2 | c.2564G>C (p.Ser855Thr) c.2474G>C (p.Ser825Thr) c.1736G>C (p.Ser579Thr) c.2519G>C (p.Ser840Thr) c.*2354G>C (n.*2354G>C) c.670G>C n.3698G>C n.2888G>C c.2702G>C (p.Ser901Thr) c.2657G>C (p.Ser886Thr) c.2612G>C (p.Ser871Thr) c.2681G>C (p.Ser894Thr) c.2666G>C (p.Ser889Thr) c.2645G>C (p.Ser882Thr) c.2639G>C (p.Ser880Thr) c.2594G>C (p.Ser865Thr) c.2585G>C (p.Ser862Thr) c.2561G>C (p.Ser854Thr) c.2555G>C (p.Ser852Thr) c.2528G>C (p.Ser843Thr) c.2522G>C (p.Ser841Thr) c.2516G>C (p.Ser839Thr) c.2465G>C (p.Ser822Thr) c.2494-208G>C (n.2494-208G>C) c.2384G>C (p.Ser795Thr) c.2378G>C (p.Ser793Thr) c.2446-208G>C (n.2446-208G>C) c.2306G>C (p.Ser769Thr) c.2208+1459G>C (n.2208+1459G>C) c.1526G>C (p.Ser509Thr) n.2802G>C | dbSNP |
17 | g.39725119G>T | CA399304581 | ERBB2 | c.2564G>T (p.Ser855Ile) c.2474G>T (p.Ser825Ile) c.1736G>T (p.Ser579Ile) c.2519G>T (p.Ser840Ile) c.*2354G>T (n.*2354G>T) c.670G>T n.3698G>T n.2888G>T c.2702G>T (p.Ser901Ile) c.2657G>T (p.Ser886Ile) c.2612G>T (p.Ser871Ile) c.2681G>T (p.Ser894Ile) c.2666G>T (p.Ser889Ile) c.2645G>T (p.Ser882Ile) c.2639G>T (p.Ser880Ile) c.2594G>T (p.Ser865Ile) c.2585G>T (p.Ser862Ile) c.2561G>T (p.Ser854Ile) c.2555G>T (p.Ser852Ile) c.2528G>T (p.Ser843Ile) c.2522G>T (p.Ser841Ile) c.2516G>T (p.Ser839Ile) c.2465G>T (p.Ser822Ile) c.2494-208G>T (n.2494-208G>T) c.2384G>T (p.Ser795Ile) c.2378G>T (p.Ser793Ile) c.2446-208G>T (n.2446-208G>T) c.2306G>T (p.Ser769Ile) c.2208+1459G>T (n.2208+1459G>T) c.1526G>T (p.Ser509Ile) n.2802G>T | COSMIC |
17 | g.39725120T>A | CA399304585 | ERBB2 | c.2565T>A (p.Ser855Arg) c.2475T>A (p.Ser825Arg) c.1737T>A (p.Ser579Arg) c.2520T>A (p.Ser840Arg) c.*2355T>A (n.*2355T>A) c.671T>A n.3699T>A n.2889T>A c.2703T>A (p.Ser901Arg) c.2658T>A (p.Ser886Arg) c.2613T>A (p.Ser871Arg) c.2682T>A (p.Ser894Arg) c.2667T>A (p.Ser889Arg) c.2646T>A (p.Ser882Arg) c.2640T>A (p.Ser880Arg) c.2595T>A (p.Ser865Arg) c.2586T>A (p.Ser862Arg) c.2562T>A (p.Ser854Arg) c.2556T>A (p.Ser852Arg) c.2529T>A (p.Ser843Arg) c.2523T>A (p.Ser841Arg) c.2517T>A (p.Ser839Arg) c.2466T>A (p.Ser822Arg) c.2494-207T>A (n.2494-207T>A) c.2385T>A (p.Ser795Arg) c.2379T>A (p.Ser793Arg) c.2446-207T>A (n.2446-207T>A) c.2307T>A (p.Ser769Arg) c.2208+1460T>A (n.2208+1460T>A) c.1527T>A (p.Ser509Arg) n.2803T>A | |
17 | g.39725120T>C | CA499890147 | ERBB2 | c.2565T>C (p.Ser855=) c.2475T>C (p.Ser825=) c.1737T>C (p.Ser579=) c.2520T>C (p.Ser840=) c.*2355T>C (n.*2355T>C) c.671T>C n.3699T>C n.2889T>C c.2703T>C (p.Ser901=) c.2658T>C (p.Ser886=) c.2613T>C (p.Ser871=) c.2682T>C (p.Ser894=) c.2667T>C (p.Ser889=) c.2646T>C (p.Ser882=) c.2640T>C (p.Ser880=) c.2595T>C (p.Ser865=) c.2586T>C (p.Ser862=) c.2562T>C (p.Ser854=) c.2556T>C (p.Ser852=) c.2529T>C (p.Ser843=) c.2523T>C (p.Ser841=) c.2517T>C (p.Ser839=) c.2466T>C (p.Ser822=) c.2494-207T>C (n.2494-207T>C) c.2385T>C (p.Ser795=) c.2379T>C (p.Ser793=) c.2446-207T>C (n.2446-207T>C) c.2307T>C (p.Ser769=) c.2208+1460T>C (n.2208+1460T>C) c.1527T>C (p.Ser509=) n.2803T>C | dbSNP |
17 | g.39725120T>G | CA399304586 | ERBB2 | c.2565T>G (p.Ser855Arg) c.2475T>G (p.Ser825Arg) c.1737T>G (p.Ser579Arg) c.2520T>G (p.Ser840Arg) c.*2355T>G (n.*2355T>G) c.671T>G n.3699T>G n.2889T>G c.2703T>G (p.Ser901Arg) c.2658T>G (p.Ser886Arg) c.2613T>G (p.Ser871Arg) c.2682T>G (p.Ser894Arg) c.2667T>G (p.Ser889Arg) c.2646T>G (p.Ser882Arg) c.2640T>G (p.Ser880Arg) c.2595T>G (p.Ser865Arg) c.2586T>G (p.Ser862Arg) c.2562T>G (p.Ser854Arg) c.2556T>G (p.Ser852Arg) c.2529T>G (p.Ser843Arg) c.2523T>G (p.Ser841Arg) c.2517T>G (p.Ser839Arg) c.2466T>G (p.Ser822Arg) c.2494-207T>G (n.2494-207T>G) c.2385T>G (p.Ser795Arg) c.2379T>G (p.Ser793Arg) c.2446-207T>G (n.2446-207T>G) c.2307T>G (p.Ser769Arg) c.2208+1460T>G (n.2208+1460T>G) c.1527T>G (p.Ser509Arg) n.2803T>G | |
17 | g.39725121C>A | CA399304587 | ERBB2 | c.2566C>A (p.Pro856Thr) c.2476C>A (p.Pro826Thr) c.1738C>A (p.Pro580Thr) c.2521C>A (p.Pro841Thr) c.*2356C>A (n.*2356C>A) c.672C>A n.3700C>A n.2890C>A c.2704C>A (p.Pro902Thr) c.2659C>A (p.Pro887Thr) c.2614C>A (p.Pro872Thr) c.2683C>A (p.Pro895Thr) c.2668C>A (p.Pro890Thr) c.2647C>A (p.Pro883Thr) c.2641C>A (p.Pro881Thr) c.2596C>A (p.Pro866Thr) c.2587C>A (p.Pro863Thr) c.2563C>A (p.Pro855Thr) c.2557C>A (p.Pro853Thr) c.2530C>A (p.Pro844Thr) c.2524C>A (p.Pro842Thr) c.2518C>A (p.Pro840Thr) c.2467C>A (p.Pro823Thr) c.2494-206C>A (n.2494-206C>A) c.2386C>A (p.Pro796Thr) c.2380C>A (p.Pro794Thr) c.2446-206C>A (n.2446-206C>A) c.2308C>A (p.Pro770Thr) c.2208+1461C>A (n.2208+1461C>A) c.1528C>A (p.Pro510Thr) n.2804C>A | dbSNP |
17 | g.39725121C>G | CA399304589 | ERBB2 | c.2566C>G (p.Pro856Ala) c.2476C>G (p.Pro826Ala) c.1738C>G (p.Pro580Ala) c.2521C>G (p.Pro841Ala) c.*2356C>G (n.*2356C>G) c.672C>G n.3700C>G n.2890C>G c.2704C>G (p.Pro902Ala) c.2659C>G (p.Pro887Ala) c.2614C>G (p.Pro872Ala) c.2683C>G (p.Pro895Ala) c.2668C>G (p.Pro890Ala) c.2647C>G (p.Pro883Ala) c.2641C>G (p.Pro881Ala) c.2596C>G (p.Pro866Ala) c.2587C>G (p.Pro863Ala) c.2563C>G (p.Pro855Ala) c.2557C>G (p.Pro853Ala) c.2530C>G (p.Pro844Ala) c.2524C>G (p.Pro842Ala) c.2518C>G (p.Pro840Ala) c.2467C>G (p.Pro823Ala) c.2494-206C>G (n.2494-206C>G) c.2386C>G (p.Pro796Ala) c.2380C>G (p.Pro794Ala) c.2446-206C>G (n.2446-206C>G) c.2308C>G (p.Pro770Ala) c.2208+1461C>G (n.2208+1461C>G) c.1528C>G (p.Pro510Ala) n.2804C>G | dbSNP |
17 | g.39725121C>T | CA399304592 | ERBB2 | c.2566C>T (p.Pro856Ser) c.2476C>T (p.Pro826Ser) c.1738C>T (p.Pro580Ser) c.2521C>T (p.Pro841Ser) c.*2356C>T (n.*2356C>T) c.672C>T n.3700C>T n.2890C>T c.2704C>T (p.Pro902Ser) c.2659C>T (p.Pro887Ser) c.2614C>T (p.Pro872Ser) c.2683C>T (p.Pro895Ser) c.2668C>T (p.Pro890Ser) c.2647C>T (p.Pro883Ser) c.2641C>T (p.Pro881Ser) c.2596C>T (p.Pro866Ser) c.2587C>T (p.Pro863Ser) c.2563C>T (p.Pro855Ser) c.2557C>T (p.Pro853Ser) c.2530C>T (p.Pro844Ser) c.2524C>T (p.Pro842Ser) c.2518C>T (p.Pro840Ser) c.2467C>T (p.Pro823Ser) c.2494-206C>T (n.2494-206C>T) c.2386C>T (p.Pro796Ser) c.2380C>T (p.Pro794Ser) c.2446-206C>T (n.2446-206C>T) c.2308C>T (p.Pro770Ser) c.2208+1461C>T (n.2208+1461C>T) c.1528C>T (p.Pro510Ser) n.2804C>T | dbSNP |
17 | g.39725123del | CA2637622140 | ERBB2 | c.2568del (p.Asn857ThrfsTer?) c.2478del (p.Asn827ThrfsTer?) c.1740del (p.Asn581ThrfsTer?) c.2523del (p.Asn842ThrfsTer?) c.*2358del (n.*2358del) c.674del n.3702del n.2892del c.2706del (p.Asn903ThrfsTer?) c.2661del (p.Asn888ThrfsTer?) c.2616del (p.Asn873ThrfsTer?) c.2685del (p.Asn896ThrfsTer?) c.2670del (p.Asn891ThrfsTer?) c.2649del (p.Asn884ThrfsTer?) c.2643del (p.Asn882ThrfsTer?) c.2598del (p.Asn867ThrfsTer?) c.2589del (p.Asn864ThrfsTer?) c.2565del (p.Asn856ThrfsTer?) c.2559del (p.Asn854ThrfsTer?) c.2532del (p.Asn845ThrfsTer?) c.2526del (p.Asn843ThrfsTer?) c.2520del (p.Asn841ThrfsTer?) c.2469del (p.Asn824ThrfsTer?) c.2494-204del (n.2494-204del) c.2388del (p.Asn797ThrfsTer?) c.2382del (p.Asn795ThrfsTer?) c.2446-204del (n.2446-204del) c.2310del (p.Asn771ThrfsTer?) c.2208+1463del (n.2208+1463del) c.1530del (p.Asn511ThrfsTer?) n.2806del | gnomAD v4 |
17 | g.39725122C>A | CA399304597 | ERBB2 | c.2567C>A (p.Pro856His) c.2477C>A (p.Pro826His) c.1739C>A (p.Pro580His) c.2522C>A (p.Pro841His) c.*2357C>A (n.*2357C>A) c.673C>A n.3701C>A n.2891C>A c.2705C>A (p.Pro902His) c.2660C>A (p.Pro887His) c.2615C>A (p.Pro872His) c.2684C>A (p.Pro895His) c.2669C>A (p.Pro890His) c.2648C>A (p.Pro883His) c.2642C>A (p.Pro881His) c.2597C>A (p.Pro866His) c.2588C>A (p.Pro863His) c.2564C>A (p.Pro855His) c.2558C>A (p.Pro853His) c.2531C>A (p.Pro844His) c.2525C>A (p.Pro842His) c.2519C>A (p.Pro840His) c.2468C>A (p.Pro823His) c.2494-205C>A (n.2494-205C>A) c.2387C>A (p.Pro796His) c.2381C>A (p.Pro794His) c.2446-205C>A (n.2446-205C>A) c.2309C>A (p.Pro770His) c.2208+1462C>A (n.2208+1462C>A) c.1529C>A (p.Pro510His) n.2805C>A | |
17 | g.39725122C>G | CA399304599 | ERBB2 | c.2567C>G (p.Pro856Arg) c.2477C>G (p.Pro826Arg) c.1739C>G (p.Pro580Arg) c.2522C>G (p.Pro841Arg) c.*2357C>G (n.*2357C>G) c.673C>G n.3701C>G n.2891C>G c.2705C>G (p.Pro902Arg) c.2660C>G (p.Pro887Arg) c.2615C>G (p.Pro872Arg) c.2684C>G (p.Pro895Arg) c.2669C>G (p.Pro890Arg) c.2648C>G (p.Pro883Arg) c.2642C>G (p.Pro881Arg) c.2597C>G (p.Pro866Arg) c.2588C>G (p.Pro863Arg) c.2564C>G (p.Pro855Arg) c.2558C>G (p.Pro853Arg) c.2531C>G (p.Pro844Arg) c.2525C>G (p.Pro842Arg) c.2519C>G (p.Pro840Arg) c.2468C>G (p.Pro823Arg) c.2494-205C>G (n.2494-205C>G) c.2387C>G (p.Pro796Arg) c.2381C>G (p.Pro794Arg) c.2446-205C>G (n.2446-205C>G) c.2309C>G (p.Pro770Arg) c.2208+1462C>G (n.2208+1462C>G) c.1529C>G (p.Pro510Arg) n.2805C>G | COSMIC |
17 | g.39725122C>T | CA399304604 | ERBB2 | c.2567C>T (p.Pro856Leu) c.2477C>T (p.Pro826Leu) c.1739C>T (p.Pro580Leu) c.2522C>T (p.Pro841Leu) c.*2357C>T (n.*2357C>T) c.673C>T n.3701C>T n.2891C>T c.2705C>T (p.Pro902Leu) c.2660C>T (p.Pro887Leu) c.2615C>T (p.Pro872Leu) c.2684C>T (p.Pro895Leu) c.2669C>T (p.Pro890Leu) c.2648C>T (p.Pro883Leu) c.2642C>T (p.Pro881Leu) c.2597C>T (p.Pro866Leu) c.2588C>T (p.Pro863Leu) c.2564C>T (p.Pro855Leu) c.2558C>T (p.Pro853Leu) c.2531C>T (p.Pro844Leu) c.2525C>T (p.Pro842Leu) c.2519C>T (p.Pro840Leu) c.2468C>T (p.Pro823Leu) c.2494-205C>T (n.2494-205C>T) c.2387C>T (p.Pro796Leu) c.2381C>T (p.Pro794Leu) c.2446-205C>T (n.2446-205C>T) c.2309C>T (p.Pro770Leu) c.2208+1462C>T (n.2208+1462C>T) c.1529C>T (p.Pro510Leu) n.2805C>T | |
17 | g.39725123C>A | CA499890152 | ERBB2 | c.2568C>A (p.Pro856=) c.2478C>A (p.Pro826=) c.1740C>A (p.Pro580=) c.2523C>A (p.Pro841=) c.*2358C>A (n.*2358C>A) c.674C>A n.3702C>A n.2892C>A c.2706C>A (p.Pro902=) c.2661C>A (p.Pro887=) c.2616C>A (p.Pro872=) c.2685C>A (p.Pro895=) c.2670C>A (p.Pro890=) c.2649C>A (p.Pro883=) c.2643C>A (p.Pro881=) c.2598C>A (p.Pro866=) c.2589C>A (p.Pro863=) c.2565C>A (p.Pro855=) c.2559C>A (p.Pro853=) c.2532C>A (p.Pro844=) c.2526C>A (p.Pro842=) c.2520C>A (p.Pro840=) c.2469C>A (p.Pro823=) c.2494-204C>A (n.2494-204C>A) c.2388C>A (p.Pro796=) c.2382C>A (p.Pro794=) c.2446-204C>A (n.2446-204C>A) c.2310C>A (p.Pro770=) c.2208+1463C>A (n.2208+1463C>A) c.1530C>A (p.Pro510=) n.2806C>A | |
17 | g.39725123C= | CA2259228142 | ERBB2 | c.2568C= (p.Pro856=) c.2478C= (p.Pro826=) c.1740C= (p.Pro580=) c.2523C= (p.Pro841=) c.*2358C= (n.*2358C=) c.674C= n.3702C= n.2892C= c.2706C= (p.Pro902=) c.2661C= (p.Pro887=) c.2616C= (p.Pro872=) c.2685C= (p.Pro895=) c.2670C= (p.Pro890=) c.2649C= (p.Pro883=) c.2643C= (p.Pro881=) c.2598C= (p.Pro866=) c.2589C= (p.Pro863=) c.2565C= (p.Pro855=) c.2559C= (p.Pro853=) c.2532C= (p.Pro844=) c.2526C= (p.Pro842=) c.2520C= (p.Pro840=) c.2469C= (p.Pro823=) c.2494-204C= (n.2494-204C=) c.2388C= (p.Pro796=) c.2382C= (p.Pro794=) c.2446-204C= (n.2446-204C=) c.2310C= (p.Pro770=) c.2208+1463C= (n.2208+1463C=) c.1530C= (p.Pro510=) n.2806C= | |
17 | g.39725123C>G | CA499890153 | ERBB2 | c.2568C>G (p.Pro856=) c.2478C>G (p.Pro826=) c.1740C>G (p.Pro580=) c.2523C>G (p.Pro841=) c.*2358C>G (n.*2358C>G) c.674C>G n.3702C>G n.2892C>G c.2706C>G (p.Pro902=) c.2661C>G (p.Pro887=) c.2616C>G (p.Pro872=) c.2685C>G (p.Pro895=) c.2670C>G (p.Pro890=) c.2649C>G (p.Pro883=) c.2643C>G (p.Pro881=) c.2598C>G (p.Pro866=) c.2589C>G (p.Pro863=) c.2565C>G (p.Pro855=) c.2559C>G (p.Pro853=) c.2532C>G (p.Pro844=) c.2526C>G (p.Pro842=) c.2520C>G (p.Pro840=) c.2469C>G (p.Pro823=) c.2494-204C>G (n.2494-204C>G) c.2388C>G (p.Pro796=) c.2382C>G (p.Pro794=) c.2446-204C>G (n.2446-204C>G) c.2310C>G (p.Pro770=) c.2208+1463C>G (n.2208+1463C>G) c.1530C>G (p.Pro510=) n.2806C>G | |
17 | g.39725123C>T | CA269852 | ERBB2 | c.2568C>T (p.Pro856=) c.2478C>T (p.Pro826=) c.1740C>T (p.Pro580=) c.2523C>T (p.Pro841=) c.*2358C>T (n.*2358C>T) c.674C>T n.3702C>T n.2892C>T c.2706C>T (p.Pro902=) c.2661C>T (p.Pro887=) c.2616C>T (p.Pro872=) c.2685C>T (p.Pro895=) c.2670C>T (p.Pro890=) c.2649C>T (p.Pro883=) c.2643C>T (p.Pro881=) c.2598C>T (p.Pro866=) c.2589C>T (p.Pro863=) c.2565C>T (p.Pro855=) c.2559C>T (p.Pro853=) c.2532C>T (p.Pro844=) c.2526C>T (p.Pro842=) c.2520C>T (p.Pro840=) c.2469C>T (p.Pro823=) c.2494-204C>T (n.2494-204C>T) c.2388C>T (p.Pro796=) c.2382C>T (p.Pro794=) c.2446-204C>T (n.2446-204C>T) c.2310C>T (p.Pro770=) c.2208+1463C>T (n.2208+1463C>T) c.1530C>T (p.Pro510=) n.2806C>T | ClinVar dbSNP |