| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39725125A= | CA2259228143 | ERBB2 | c.2570A= (p.Asn857=) c.2480A= (p.Asn827=) c.1742A= (p.Asn581=) c.2525A= (p.Asn842=) c.*2360A= (n.*2360A=) c.676A= n.3704A= n.2894A= c.2708A= (p.Asn903=) c.2663A= (p.Asn888=) c.2618A= (p.Asn873=) c.2687A= (p.Asn896=) c.2672A= (p.Asn891=) c.2651A= (p.Asn884=) c.2645A= (p.Asn882=) c.2600A= (p.Asn867=) c.2591A= (p.Asn864=) c.2567A= (p.Asn856=) c.2561A= (p.Asn854=) c.2534A= (p.Asn845=) c.2528A= (p.Asn843=) c.2522A= (p.Asn841=) c.2471A= (p.Asn824=) c.2494-202A= (n.2494-202A=) c.2390A= (p.Asn797=) c.2384A= (p.Asn795=) c.2446-202A= (n.2446-202A=) c.2312A= (p.Asn771=) c.2208+1465A= (n.2208+1465A=) c.1532A= (p.Asn511=) n.2808A= | |
| 17 | g.39725125A>C | CA399304625 | ERBB2 | c.2570A>C (p.Asn857Thr) c.2480A>C (p.Asn827Thr) c.1742A>C (p.Asn581Thr) c.2525A>C (p.Asn842Thr) c.*2360A>C (n.*2360A>C) c.676A>C n.3704A>C n.2894A>C c.2708A>C (p.Asn903Thr) c.2663A>C (p.Asn888Thr) c.2618A>C (p.Asn873Thr) c.2687A>C (p.Asn896Thr) c.2672A>C (p.Asn891Thr) c.2651A>C (p.Asn884Thr) c.2645A>C (p.Asn882Thr) c.2600A>C (p.Asn867Thr) c.2591A>C (p.Asn864Thr) c.2567A>C (p.Asn856Thr) c.2561A>C (p.Asn854Thr) c.2534A>C (p.Asn845Thr) c.2528A>C (p.Asn843Thr) c.2522A>C (p.Asn841Thr) c.2471A>C (p.Asn824Thr) c.2494-202A>C (n.2494-202A>C) c.2390A>C (p.Asn797Thr) c.2384A>C (p.Asn795Thr) c.2446-202A>C (n.2446-202A>C) c.2312A>C (p.Asn771Thr) c.2208+1465A>C (n.2208+1465A>C) c.1532A>C (p.Asn511Thr) n.2808A>C | |
| 17 | g.39725125A>G | CA123601 | ERBB2 | c.2570A>G (p.Asn857Ser) c.2480A>G (p.Asn827Ser) c.1742A>G (p.Asn581Ser) c.2525A>G (p.Asn842Ser) c.*2360A>G (n.*2360A>G) c.676A>G n.3704A>G n.2894A>G c.2708A>G (p.Asn903Ser) c.2663A>G (p.Asn888Ser) c.2618A>G (p.Asn873Ser) c.2687A>G (p.Asn896Ser) c.2672A>G (p.Asn891Ser) c.2651A>G (p.Asn884Ser) c.2645A>G (p.Asn882Ser) c.2600A>G (p.Asn867Ser) c.2591A>G (p.Asn864Ser) c.2567A>G (p.Asn856Ser) c.2561A>G (p.Asn854Ser) c.2534A>G (p.Asn845Ser) c.2528A>G (p.Asn843Ser) c.2522A>G (p.Asn841Ser) c.2471A>G (p.Asn824Ser) c.2494-202A>G (n.2494-202A>G) c.2390A>G (p.Asn797Ser) c.2384A>G (p.Asn795Ser) c.2446-202A>G (n.2446-202A>G) c.2312A>G (p.Asn771Ser) c.2208+1465A>G (n.2208+1465A>G) c.1532A>G (p.Asn511Ser) n.2808A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.39725125A>T | CA399304631 | ERBB2 | c.2570A>T (p.Asn857Ile) c.2480A>T (p.Asn827Ile) c.1742A>T (p.Asn581Ile) c.2525A>T (p.Asn842Ile) c.*2360A>T (n.*2360A>T) c.676A>T n.3704A>T n.2894A>T c.2708A>T (p.Asn903Ile) c.2663A>T (p.Asn888Ile) c.2618A>T (p.Asn873Ile) c.2687A>T (p.Asn896Ile) c.2672A>T (p.Asn891Ile) c.2651A>T (p.Asn884Ile) c.2645A>T (p.Asn882Ile) c.2600A>T (p.Asn867Ile) c.2591A>T (p.Asn864Ile) c.2567A>T (p.Asn856Ile) c.2561A>T (p.Asn854Ile) c.2534A>T (p.Asn845Ile) c.2528A>T (p.Asn843Ile) c.2522A>T (p.Asn841Ile) c.2471A>T (p.Asn824Ile) c.2494-202A>T (n.2494-202A>T) c.2390A>T (p.Asn797Ile) c.2384A>T (p.Asn795Ile) c.2446-202A>T (n.2446-202A>T) c.2312A>T (p.Asn771Ile) c.2208+1465A>T (n.2208+1465A>T) c.1532A>T (p.Asn511Ile) n.2808A>T | |
| 17 | g.39725126C>A | CA399304634 | ERBB2 | c.2571C>A (p.Asn857Lys) c.2481C>A (p.Asn827Lys) c.1743C>A (p.Asn581Lys) c.2526C>A (p.Asn842Lys) c.*2361C>A (n.*2361C>A) c.677C>A n.3705C>A n.2895C>A c.2709C>A (p.Asn903Lys) c.2664C>A (p.Asn888Lys) c.2619C>A (p.Asn873Lys) c.2688C>A (p.Asn896Lys) c.2673C>A (p.Asn891Lys) c.2652C>A (p.Asn884Lys) c.2646C>A (p.Asn882Lys) c.2601C>A (p.Asn867Lys) c.2592C>A (p.Asn864Lys) c.2568C>A (p.Asn856Lys) c.2562C>A (p.Asn854Lys) c.2535C>A (p.Asn845Lys) c.2529C>A (p.Asn843Lys) c.2523C>A (p.Asn841Lys) c.2472C>A (p.Asn824Lys) c.2494-201C>A (n.2494-201C>A) c.2391C>A (p.Asn797Lys) c.2385C>A (p.Asn795Lys) c.2446-201C>A (n.2446-201C>A) c.2313C>A (p.Asn771Lys) c.2208+1466C>A (n.2208+1466C>A) c.1533C>A (p.Asn511Lys) n.2809C>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39725126C= | CA2259228144 | ERBB2 | c.2571C= (p.Asn857=) c.2481C= (p.Asn827=) c.1743C= (p.Asn581=) c.2526C= (p.Asn842=) c.*2361C= (n.*2361C=) c.677C= n.3705C= n.2895C= c.2709C= (p.Asn903=) c.2664C= (p.Asn888=) c.2619C= (p.Asn873=) c.2688C= (p.Asn896=) c.2673C= (p.Asn891=) c.2652C= (p.Asn884=) c.2646C= (p.Asn882=) c.2601C= (p.Asn867=) c.2592C= (p.Asn864=) c.2568C= (p.Asn856=) c.2562C= (p.Asn854=) c.2535C= (p.Asn845=) c.2529C= (p.Asn843=) c.2523C= (p.Asn841=) c.2472C= (p.Asn824=) c.2494-201C= (n.2494-201C=) c.2391C= (p.Asn797=) c.2385C= (p.Asn795=) c.2446-201C= (n.2446-201C=) c.2313C= (p.Asn771=) c.2208+1466C= (n.2208+1466C=) c.1533C= (p.Asn511=) n.2809C= | |
| 17 | g.39725126C>G | CA399304638 | ERBB2 | c.2571C>G (p.Asn857Lys) c.2481C>G (p.Asn827Lys) c.1743C>G (p.Asn581Lys) c.2526C>G (p.Asn842Lys) c.*2361C>G (n.*2361C>G) c.677C>G n.3705C>G n.2895C>G c.2709C>G (p.Asn903Lys) c.2664C>G (p.Asn888Lys) c.2619C>G (p.Asn873Lys) c.2688C>G (p.Asn896Lys) c.2673C>G (p.Asn891Lys) c.2652C>G (p.Asn884Lys) c.2646C>G (p.Asn882Lys) c.2601C>G (p.Asn867Lys) c.2592C>G (p.Asn864Lys) c.2568C>G (p.Asn856Lys) c.2562C>G (p.Asn854Lys) c.2535C>G (p.Asn845Lys) c.2529C>G (p.Asn843Lys) c.2523C>G (p.Asn841Lys) c.2472C>G (p.Asn824Lys) c.2494-201C>G (n.2494-201C>G) c.2391C>G (p.Asn797Lys) c.2385C>G (p.Asn795Lys) c.2446-201C>G (n.2446-201C>G) c.2313C>G (p.Asn771Lys) c.2208+1466C>G (n.2208+1466C>G) c.1533C>G (p.Asn511Lys) n.2809C>G | dbSNP gnomAD v4 |
| 17 | g.39725126C>T | CA499890157 | ERBB2 | c.2571C>T (p.Asn857=) c.2481C>T (p.Asn827=) c.1743C>T (p.Asn581=) c.2526C>T (p.Asn842=) c.*2361C>T (n.*2361C>T) c.677C>T n.3705C>T n.2895C>T c.2709C>T (p.Asn903=) c.2664C>T (p.Asn888=) c.2619C>T (p.Asn873=) c.2688C>T (p.Asn896=) c.2673C>T (p.Asn891=) c.2652C>T (p.Asn884=) c.2646C>T (p.Asn882=) c.2601C>T (p.Asn867=) c.2592C>T (p.Asn864=) c.2568C>T (p.Asn856=) c.2562C>T (p.Asn854=) c.2535C>T (p.Asn845=) c.2529C>T (p.Asn843=) c.2523C>T (p.Asn841=) c.2472C>T (p.Asn824=) c.2494-201C>T (n.2494-201C>T) c.2391C>T (p.Asn797=) c.2385C>T (p.Asn795=) c.2446-201C>T (n.2446-201C>T) c.2313C>T (p.Asn771=) c.2208+1466C>T (n.2208+1466C>T) c.1533C>T (p.Asn511=) n.2809C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39725127C>A | CA399304642 | ERBB2 | c.2572C>A (p.His858Asn) c.2482C>A (p.His828Asn) c.1744C>A (p.His582Asn) c.2527C>A (p.His843Asn) c.*2362C>A (n.*2362C>A) c.678C>A n.3706C>A n.2896C>A c.2710C>A (p.His904Asn) c.2665C>A (p.His889Asn) c.2620C>A (p.His874Asn) c.2689C>A (p.His897Asn) c.2674C>A (p.His892Asn) c.2653C>A (p.His885Asn) c.2647C>A (p.His883Asn) c.2602C>A (p.His868Asn) c.2593C>A (p.His865Asn) c.2569C>A (p.His857Asn) c.2563C>A (p.His855Asn) c.2536C>A (p.His846Asn) c.2530C>A (p.His844Asn) c.2524C>A (p.His842Asn) c.2473C>A (p.His825Asn) c.2494-200C>A (n.2494-200C>A) c.2392C>A (p.His798Asn) c.2386C>A (p.His796Asn) c.2446-200C>A (n.2446-200C>A) c.2314C>A (p.His772Asn) c.2208+1467C>A (n.2208+1467C>A) c.1534C>A (p.His512Asn) n.2810C>A | dbSNP |
| 17 | g.39725127C>G | CA399304644 | ERBB2 | c.2572C>G (p.His858Asp) c.2482C>G (p.His828Asp) c.1744C>G (p.His582Asp) c.2527C>G (p.His843Asp) c.*2362C>G (n.*2362C>G) c.678C>G n.3706C>G n.2896C>G c.2710C>G (p.His904Asp) c.2665C>G (p.His889Asp) c.2620C>G (p.His874Asp) c.2689C>G (p.His897Asp) c.2674C>G (p.His892Asp) c.2653C>G (p.His885Asp) c.2647C>G (p.His883Asp) c.2602C>G (p.His868Asp) c.2593C>G (p.His865Asp) c.2569C>G (p.His857Asp) c.2563C>G (p.His855Asp) c.2536C>G (p.His846Asp) c.2530C>G (p.His844Asp) c.2524C>G (p.His842Asp) c.2473C>G (p.His825Asp) c.2494-200C>G (n.2494-200C>G) c.2392C>G (p.His798Asp) c.2386C>G (p.His796Asp) c.2446-200C>G (n.2446-200C>G) c.2314C>G (p.His772Asp) c.2208+1467C>G (n.2208+1467C>G) c.1534C>G (p.His512Asp) n.2810C>G | dbSNP |
| 17 | g.39725127C>T | CA399304647 | ERBB2 | c.2572C>T (p.His858Tyr) c.2482C>T (p.His828Tyr) c.1744C>T (p.His582Tyr) c.2527C>T (p.His843Tyr) c.*2362C>T (n.*2362C>T) c.678C>T n.3706C>T n.2896C>T c.2710C>T (p.His904Tyr) c.2665C>T (p.His889Tyr) c.2620C>T (p.His874Tyr) c.2689C>T (p.His897Tyr) c.2674C>T (p.His892Tyr) c.2653C>T (p.His885Tyr) c.2647C>T (p.His883Tyr) c.2602C>T (p.His868Tyr) c.2593C>T (p.His865Tyr) c.2569C>T (p.His857Tyr) c.2563C>T (p.His855Tyr) c.2536C>T (p.His846Tyr) c.2530C>T (p.His844Tyr) c.2524C>T (p.His842Tyr) c.2473C>T (p.His825Tyr) c.2494-200C>T (n.2494-200C>T) c.2392C>T (p.His798Tyr) c.2386C>T (p.His796Tyr) c.2446-200C>T (n.2446-200C>T) c.2314C>T (p.His772Tyr) c.2208+1467C>T (n.2208+1467C>T) c.1534C>T (p.His512Tyr) n.2810C>T | dbSNP |
| 17 | g.39725128A>C | CA399304650 | ERBB2 | c.2573A>C (p.His858Pro) c.2483A>C (p.His828Pro) c.1745A>C (p.His582Pro) c.2528A>C (p.His843Pro) c.*2363A>C (n.*2363A>C) c.679A>C n.3707A>C n.2897A>C c.2711A>C (p.His904Pro) c.2666A>C (p.His889Pro) c.2621A>C (p.His874Pro) c.2690A>C (p.His897Pro) c.2675A>C (p.His892Pro) c.2654A>C (p.His885Pro) c.2648A>C (p.His883Pro) c.2603A>C (p.His868Pro) c.2594A>C (p.His865Pro) c.2570A>C (p.His857Pro) c.2564A>C (p.His855Pro) c.2537A>C (p.His846Pro) c.2531A>C (p.His844Pro) c.2525A>C (p.His842Pro) c.2474A>C (p.His825Pro) c.2494-199A>C (n.2494-199A>C) c.2393A>C (p.His798Pro) c.2387A>C (p.His796Pro) c.2446-199A>C (n.2446-199A>C) c.2315A>C (p.His772Pro) c.2208+1468A>C (n.2208+1468A>C) c.1535A>C (p.His512Pro) n.2811A>C | |
| 17 | g.39725128A>G | CA399304653 | ERBB2 | c.2573A>G (p.His858Arg) c.2483A>G (p.His828Arg) c.1745A>G (p.His582Arg) c.2528A>G (p.His843Arg) c.*2363A>G (n.*2363A>G) c.679A>G n.3707A>G n.2897A>G c.2711A>G (p.His904Arg) c.2666A>G (p.His889Arg) c.2621A>G (p.His874Arg) c.2690A>G (p.His897Arg) c.2675A>G (p.His892Arg) c.2654A>G (p.His885Arg) c.2648A>G (p.His883Arg) c.2603A>G (p.His868Arg) c.2594A>G (p.His865Arg) c.2570A>G (p.His857Arg) c.2564A>G (p.His855Arg) c.2537A>G (p.His846Arg) c.2531A>G (p.His844Arg) c.2525A>G (p.His842Arg) c.2474A>G (p.His825Arg) c.2494-199A>G (n.2494-199A>G) c.2393A>G (p.His798Arg) c.2387A>G (p.His796Arg) c.2446-199A>G (n.2446-199A>G) c.2315A>G (p.His772Arg) c.2208+1468A>G (n.2208+1468A>G) c.1535A>G (p.His512Arg) n.2811A>G | |
| 17 | g.39725128A>T | CA399304656 | ERBB2 | c.2573A>T (p.His858Leu) c.2483A>T (p.His828Leu) c.1745A>T (p.His582Leu) c.2528A>T (p.His843Leu) c.*2363A>T (n.*2363A>T) c.679A>T n.3707A>T n.2897A>T c.2711A>T (p.His904Leu) c.2666A>T (p.His889Leu) c.2621A>T (p.His874Leu) c.2690A>T (p.His897Leu) c.2675A>T (p.His892Leu) c.2654A>T (p.His885Leu) c.2648A>T (p.His883Leu) c.2603A>T (p.His868Leu) c.2594A>T (p.His865Leu) c.2570A>T (p.His857Leu) c.2564A>T (p.His855Leu) c.2537A>T (p.His846Leu) c.2531A>T (p.His844Leu) c.2525A>T (p.His842Leu) c.2474A>T (p.His825Leu) c.2494-199A>T (n.2494-199A>T) c.2393A>T (p.His798Leu) c.2387A>T (p.His796Leu) c.2446-199A>T (n.2446-199A>T) c.2315A>T (p.His772Leu) c.2208+1468A>T (n.2208+1468A>T) c.1535A>T (p.His512Leu) n.2811A>T | |
| 17 | g.39725129T>A | CA399304659 | ERBB2 | c.2574T>A (p.His858Gln) c.2484T>A (p.His828Gln) c.1746T>A (p.His582Gln) c.2529T>A (p.His843Gln) c.*2364T>A (n.*2364T>A) c.680T>A n.3708T>A n.2898T>A c.2712T>A (p.His904Gln) c.2667T>A (p.His889Gln) c.2622T>A (p.His874Gln) c.2691T>A (p.His897Gln) c.2676T>A (p.His892Gln) c.2655T>A (p.His885Gln) c.2649T>A (p.His883Gln) c.2604T>A (p.His868Gln) c.2595T>A (p.His865Gln) c.2571T>A (p.His857Gln) c.2565T>A (p.His855Gln) c.2538T>A (p.His846Gln) c.2532T>A (p.His844Gln) c.2526T>A (p.His842Gln) c.2475T>A (p.His825Gln) c.2494-198T>A (n.2494-198T>A) c.2394T>A (p.His798Gln) c.2388T>A (p.His796Gln) c.2446-198T>A (n.2446-198T>A) c.2316T>A (p.His772Gln) c.2208+1469T>A (n.2208+1469T>A) c.1536T>A (p.His512Gln) n.2812T>A | dbSNP |
| 17 | g.39725129T>C | CA8534330 | ERBB2 | c.2574T>C (p.His858=) c.2484T>C (p.His828=) c.1746T>C (p.His582=) c.2529T>C (p.His843=) c.*2364T>C (n.*2364T>C) c.680T>C n.3708T>C n.2898T>C c.2712T>C (p.His904=) c.2667T>C (p.His889=) c.2622T>C (p.His874=) c.2691T>C (p.His897=) c.2676T>C (p.His892=) c.2655T>C (p.His885=) c.2649T>C (p.His883=) c.2604T>C (p.His868=) c.2595T>C (p.His865=) c.2571T>C (p.His857=) c.2565T>C (p.His855=) c.2538T>C (p.His846=) c.2532T>C (p.His844=) c.2526T>C (p.His842=) c.2475T>C (p.His825=) c.2494-198T>C (n.2494-198T>C) c.2394T>C (p.His798=) c.2388T>C (p.His796=) c.2446-198T>C (n.2446-198T>C) c.2316T>C (p.His772=) c.2208+1469T>C (n.2208+1469T>C) c.1536T>C (p.His512=) n.2812T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39725129T>G | CA399304664 | ERBB2 | c.2574T>G (p.His858Gln) c.2484T>G (p.His828Gln) c.1746T>G (p.His582Gln) c.2529T>G (p.His843Gln) c.*2364T>G (n.*2364T>G) c.680T>G n.3708T>G n.2898T>G c.2712T>G (p.His904Gln) c.2667T>G (p.His889Gln) c.2622T>G (p.His874Gln) c.2691T>G (p.His897Gln) c.2676T>G (p.His892Gln) c.2655T>G (p.His885Gln) c.2649T>G (p.His883Gln) c.2604T>G (p.His868Gln) c.2595T>G (p.His865Gln) c.2571T>G (p.His857Gln) c.2565T>G (p.His855Gln) c.2538T>G (p.His846Gln) c.2532T>G (p.His844Gln) c.2526T>G (p.His842Gln) c.2475T>G (p.His825Gln) c.2494-198T>G (n.2494-198T>G) c.2394T>G (p.His798Gln) c.2388T>G (p.His796Gln) c.2446-198T>G (n.2446-198T>G) c.2316T>G (p.His772Gln) c.2208+1469T>G (n.2208+1469T>G) c.1536T>G (p.His512Gln) n.2812T>G | gnomAD v4 |
| 17 | g.39725129T= | CA2259228145 | ERBB2 | c.2574T= (p.His858=) c.2484T= (p.His828=) c.1746T= (p.His582=) c.2529T= (p.His843=) c.*2364T= (n.*2364T=) c.680T= n.3708T= n.2898T= c.2712T= (p.His904=) c.2667T= (p.His889=) c.2622T= (p.His874=) c.2691T= (p.His897=) c.2676T= (p.His892=) c.2655T= (p.His885=) c.2649T= (p.His883=) c.2604T= (p.His868=) c.2595T= (p.His865=) c.2571T= (p.His857=) c.2565T= (p.His855=) c.2538T= (p.His846=) c.2532T= (p.His844=) c.2526T= (p.His842=) c.2475T= (p.His825=) c.2494-198T= (n.2494-198T=) c.2394T= (p.His798=) c.2388T= (p.His796=) c.2446-198T= (n.2446-198T=) c.2316T= (p.His772=) c.2208+1469T= (n.2208+1469T=) c.1536T= (p.His512=) n.2812T= | |
| 17 | g.39725130G>A | CA399304672 | ERBB2 | c.2575G>A (p.Val859Ile) c.2485G>A (p.Val829Ile) c.1747G>A (p.Val583Ile) c.2530G>A (p.Val844Ile) c.*2365G>A (n.*2365G>A) c.681G>A n.3709G>A n.2899G>A c.2713G>A (p.Val905Ile) c.2668G>A (p.Val890Ile) c.2623G>A (p.Val875Ile) c.2692G>A (p.Val898Ile) c.2677G>A (p.Val893Ile) c.2656G>A (p.Val886Ile) c.2650G>A (p.Val884Ile) c.2605G>A (p.Val869Ile) c.2596G>A (p.Val866Ile) c.2572G>A (p.Val858Ile) c.2566G>A (p.Val856Ile) c.2539G>A (p.Val847Ile) c.2533G>A (p.Val845Ile) c.2527G>A (p.Val843Ile) c.2476G>A (p.Val826Ile) c.2494-197G>A (n.2494-197G>A) c.2395G>A (p.Val799Ile) c.2389G>A (p.Val797Ile) c.2446-197G>A (n.2446-197G>A) c.2317G>A (p.Val773Ile) c.2208+1470G>A (n.2208+1470G>A) c.1537G>A (p.Val513Ile) n.2813G>A | dbSNP |
| 17 | g.39725130G>C | CA399304677 | ERBB2 | c.2575G>C (p.Val859Leu) c.2485G>C (p.Val829Leu) c.1747G>C (p.Val583Leu) c.2530G>C (p.Val844Leu) c.*2365G>C (n.*2365G>C) c.681G>C n.3709G>C n.2899G>C c.2713G>C (p.Val905Leu) c.2668G>C (p.Val890Leu) c.2623G>C (p.Val875Leu) c.2692G>C (p.Val898Leu) c.2677G>C (p.Val893Leu) c.2656G>C (p.Val886Leu) c.2650G>C (p.Val884Leu) c.2605G>C (p.Val869Leu) c.2596G>C (p.Val866Leu) c.2572G>C (p.Val858Leu) c.2566G>C (p.Val856Leu) c.2539G>C (p.Val847Leu) c.2533G>C (p.Val845Leu) c.2527G>C (p.Val843Leu) c.2476G>C (p.Val826Leu) c.2494-197G>C (n.2494-197G>C) c.2395G>C (p.Val799Leu) c.2389G>C (p.Val797Leu) c.2446-197G>C (n.2446-197G>C) c.2317G>C (p.Val773Leu) c.2208+1470G>C (n.2208+1470G>C) c.1537G>C (p.Val513Leu) n.2813G>C | dbSNP |
| 17 | g.39725130G>T | CA399304680 | ERBB2 | c.2575G>T (p.Val859Phe) c.2485G>T (p.Val829Phe) c.1747G>T (p.Val583Phe) c.2530G>T (p.Val844Phe) c.*2365G>T (n.*2365G>T) c.681G>T n.3709G>T n.2899G>T c.2713G>T (p.Val905Phe) c.2668G>T (p.Val890Phe) c.2623G>T (p.Val875Phe) c.2692G>T (p.Val898Phe) c.2677G>T (p.Val893Phe) c.2656G>T (p.Val886Phe) c.2650G>T (p.Val884Phe) c.2605G>T (p.Val869Phe) c.2596G>T (p.Val866Phe) c.2572G>T (p.Val858Phe) c.2566G>T (p.Val856Phe) c.2539G>T (p.Val847Phe) c.2533G>T (p.Val845Phe) c.2527G>T (p.Val843Phe) c.2476G>T (p.Val826Phe) c.2494-197G>T (n.2494-197G>T) c.2395G>T (p.Val799Phe) c.2389G>T (p.Val797Phe) c.2446-197G>T (n.2446-197G>T) c.2317G>T (p.Val773Phe) c.2208+1470G>T (n.2208+1470G>T) c.1537G>T (p.Val513Phe) n.2813G>T | dbSNP |
| 17 | g.39725131T>A | CA399304685 | ERBB2 | c.2576T>A (p.Val859Asp) c.2486T>A (p.Val829Asp) c.1748T>A (p.Val583Asp) c.2531T>A (p.Val844Asp) c.*2366T>A (n.*2366T>A) c.682T>A n.3710T>A n.2900T>A c.2714T>A (p.Val905Asp) c.2669T>A (p.Val890Asp) c.2624T>A (p.Val875Asp) c.2693T>A (p.Val898Asp) c.2678T>A (p.Val893Asp) c.2657T>A (p.Val886Asp) c.2651T>A (p.Val884Asp) c.2606T>A (p.Val869Asp) c.2597T>A (p.Val866Asp) c.2573T>A (p.Val858Asp) c.2567T>A (p.Val856Asp) c.2540T>A (p.Val847Asp) c.2534T>A (p.Val845Asp) c.2528T>A (p.Val843Asp) c.2477T>A (p.Val826Asp) c.2494-196T>A (n.2494-196T>A) c.2396T>A (p.Val799Asp) c.2390T>A (p.Val797Asp) c.2446-196T>A (n.2446-196T>A) c.2318T>A (p.Val773Asp) c.2208+1471T>A (n.2208+1471T>A) c.1538T>A (p.Val513Asp) n.2814T>A | dbSNP |
| 17 | g.39725131T>C | CA399304690 | ERBB2 | c.2576T>C (p.Val859Ala) c.2486T>C (p.Val829Ala) c.1748T>C (p.Val583Ala) c.2531T>C (p.Val844Ala) c.*2366T>C (n.*2366T>C) c.682T>C n.3710T>C n.2900T>C c.2714T>C (p.Val905Ala) c.2669T>C (p.Val890Ala) c.2624T>C (p.Val875Ala) c.2693T>C (p.Val898Ala) c.2678T>C (p.Val893Ala) c.2657T>C (p.Val886Ala) c.2651T>C (p.Val884Ala) c.2606T>C (p.Val869Ala) c.2597T>C (p.Val866Ala) c.2573T>C (p.Val858Ala) c.2567T>C (p.Val856Ala) c.2540T>C (p.Val847Ala) c.2534T>C (p.Val845Ala) c.2528T>C (p.Val843Ala) c.2477T>C (p.Val826Ala) c.2494-196T>C (n.2494-196T>C) c.2396T>C (p.Val799Ala) c.2390T>C (p.Val797Ala) c.2446-196T>C (n.2446-196T>C) c.2318T>C (p.Val773Ala) c.2208+1471T>C (n.2208+1471T>C) c.1538T>C (p.Val513Ala) n.2814T>C | dbSNP |
| 17 | g.39725131T>G | CA399304686 | ERBB2 | c.2576T>G (p.Val859Gly) c.2486T>G (p.Val829Gly) c.1748T>G (p.Val583Gly) c.2531T>G (p.Val844Gly) c.*2366T>G (n.*2366T>G) c.682T>G n.3710T>G n.2900T>G c.2714T>G (p.Val905Gly) c.2669T>G (p.Val890Gly) c.2624T>G (p.Val875Gly) c.2693T>G (p.Val898Gly) c.2678T>G (p.Val893Gly) c.2657T>G (p.Val886Gly) c.2651T>G (p.Val884Gly) c.2606T>G (p.Val869Gly) c.2597T>G (p.Val866Gly) c.2573T>G (p.Val858Gly) c.2567T>G (p.Val856Gly) c.2540T>G (p.Val847Gly) c.2534T>G (p.Val845Gly) c.2528T>G (p.Val843Gly) c.2477T>G (p.Val826Gly) c.2494-196T>G (n.2494-196T>G) c.2396T>G (p.Val799Gly) c.2390T>G (p.Val797Gly) c.2446-196T>G (n.2446-196T>G) c.2318T>G (p.Val773Gly) c.2208+1471T>G (n.2208+1471T>G) c.1538T>G (p.Val513Gly) n.2814T>G | dbSNP |
| 17 | g.39725132C>A | CA499890169 | ERBB2 | c.2577C>A (p.Val859=) c.2487C>A (p.Val829=) c.1749C>A (p.Val583=) c.2532C>A (p.Val844=) c.*2367C>A (n.*2367C>A) c.683C>A n.3711C>A n.2901C>A c.2715C>A (p.Val905=) c.2670C>A (p.Val890=) c.2625C>A (p.Val875=) c.2694C>A (p.Val898=) c.2679C>A (p.Val893=) c.2658C>A (p.Val886=) c.2652C>A (p.Val884=) c.2607C>A (p.Val869=) c.2598C>A (p.Val866=) c.2574C>A (p.Val858=) c.2568C>A (p.Val856=) c.2541C>A (p.Val847=) c.2535C>A (p.Val845=) c.2529C>A (p.Val843=) c.2478C>A (p.Val826=) c.2494-195C>A (n.2494-195C>A) c.2397C>A (p.Val799=) c.2391C>A (p.Val797=) c.2446-195C>A (n.2446-195C>A) c.2319C>A (p.Val773=) c.2208+1472C>A (n.2208+1472C>A) c.1539C>A (p.Val513=) n.2815C>A | dbSNP |
| 17 | g.39725132C= | CA2259228146 | ERBB2 | c.2577C= (p.Val859=) c.2487C= (p.Val829=) c.1749C= (p.Val583=) c.2532C= (p.Val844=) c.*2367C= (n.*2367C=) c.683C= n.3711C= n.2901C= c.2715C= (p.Val905=) c.2670C= (p.Val890=) c.2625C= (p.Val875=) c.2694C= (p.Val898=) c.2679C= (p.Val893=) c.2658C= (p.Val886=) c.2652C= (p.Val884=) c.2607C= (p.Val869=) c.2598C= (p.Val866=) c.2574C= (p.Val858=) c.2568C= (p.Val856=) c.2541C= (p.Val847=) c.2535C= (p.Val845=) c.2529C= (p.Val843=) c.2478C= (p.Val826=) c.2494-195C= (n.2494-195C=) c.2397C= (p.Val799=) c.2391C= (p.Val797=) c.2446-195C= (n.2446-195C=) c.2319C= (p.Val773=) c.2208+1472C= (n.2208+1472C=) c.1539C= (p.Val513=) n.2815C= | |
| 17 | g.39725132C>G | CA499890164 | ERBB2 | c.2577C>G (p.Val859=) c.2487C>G (p.Val829=) c.1749C>G (p.Val583=) c.2532C>G (p.Val844=) c.*2367C>G (n.*2367C>G) c.683C>G n.3711C>G n.2901C>G c.2715C>G (p.Val905=) c.2670C>G (p.Val890=) c.2625C>G (p.Val875=) c.2694C>G (p.Val898=) c.2679C>G (p.Val893=) c.2658C>G (p.Val886=) c.2652C>G (p.Val884=) c.2607C>G (p.Val869=) c.2598C>G (p.Val866=) c.2574C>G (p.Val858=) c.2568C>G (p.Val856=) c.2541C>G (p.Val847=) c.2535C>G (p.Val845=) c.2529C>G (p.Val843=) c.2478C>G (p.Val826=) c.2494-195C>G (n.2494-195C>G) c.2397C>G (p.Val799=) c.2391C>G (p.Val797=) c.2446-195C>G (n.2446-195C>G) c.2319C>G (p.Val773=) c.2208+1472C>G (n.2208+1472C>G) c.1539C>G (p.Val513=) n.2815C>G | dbSNP |
| 17 | g.39725132C>T | CA499890167 | ERBB2 | c.2577C>T (p.Val859=) c.2487C>T (p.Val829=) c.1749C>T (p.Val583=) c.2532C>T (p.Val844=) c.*2367C>T (n.*2367C>T) c.683C>T n.3711C>T n.2901C>T c.2715C>T (p.Val905=) c.2670C>T (p.Val890=) c.2625C>T (p.Val875=) c.2694C>T (p.Val898=) c.2679C>T (p.Val893=) c.2658C>T (p.Val886=) c.2652C>T (p.Val884=) c.2607C>T (p.Val869=) c.2598C>T (p.Val866=) c.2574C>T (p.Val858=) c.2568C>T (p.Val856=) c.2541C>T (p.Val847=) c.2535C>T (p.Val845=) c.2529C>T (p.Val843=) c.2478C>T (p.Val826=) c.2494-195C>T (n.2494-195C>T) c.2397C>T (p.Val799=) c.2391C>T (p.Val797=) c.2446-195C>T (n.2446-195C>T) c.2319C>T (p.Val773=) c.2208+1472C>T (n.2208+1472C>T) c.1539C>T (p.Val513=) n.2815C>T | dbSNP gnomAD v4 |
| 17 | g.39725133A>C | CA399304694 | ERBB2 | c.2578A>C (p.Lys860Gln) c.2488A>C (p.Lys830Gln) c.1750A>C (p.Lys584Gln) c.2533A>C (p.Lys845Gln) c.*2368A>C (n.*2368A>C) c.684A>C n.3712A>C n.2902A>C c.2716A>C (p.Lys906Gln) c.2671A>C (p.Lys891Gln) c.2626A>C (p.Lys876Gln) c.2695A>C (p.Lys899Gln) c.2680A>C (p.Lys894Gln) c.2659A>C (p.Lys887Gln) c.2653A>C (p.Lys885Gln) c.2608A>C (p.Lys870Gln) c.2599A>C (p.Lys867Gln) c.2575A>C (p.Lys859Gln) c.2569A>C (p.Lys857Gln) c.2542A>C (p.Lys848Gln) c.2536A>C (p.Lys846Gln) c.2530A>C (p.Lys844Gln) c.2479A>C (p.Lys827Gln) c.2494-194A>C (n.2494-194A>C) c.2398A>C (p.Lys800Gln) c.2392A>C (p.Lys798Gln) c.2446-194A>C (n.2446-194A>C) c.2320A>C (p.Lys774Gln) c.2208+1473A>C (n.2208+1473A>C) c.1540A>C (p.Lys514Gln) n.2816A>C | |
| 17 | g.39725133A>G | CA399304696 | ERBB2 | c.2578A>G (p.Lys860Glu) c.2488A>G (p.Lys830Glu) c.1750A>G (p.Lys584Glu) c.2533A>G (p.Lys845Glu) c.*2368A>G (n.*2368A>G) c.684A>G n.3712A>G n.2902A>G c.2716A>G (p.Lys906Glu) c.2671A>G (p.Lys891Glu) c.2626A>G (p.Lys876Glu) c.2695A>G (p.Lys899Glu) c.2680A>G (p.Lys894Glu) c.2659A>G (p.Lys887Glu) c.2653A>G (p.Lys885Glu) c.2608A>G (p.Lys870Glu) c.2599A>G (p.Lys867Glu) c.2575A>G (p.Lys859Glu) c.2569A>G (p.Lys857Glu) c.2542A>G (p.Lys848Glu) c.2536A>G (p.Lys846Glu) c.2530A>G (p.Lys844Glu) c.2479A>G (p.Lys827Glu) c.2494-194A>G (n.2494-194A>G) c.2398A>G (p.Lys800Glu) c.2392A>G (p.Lys798Glu) c.2446-194A>G (n.2446-194A>G) c.2320A>G (p.Lys774Glu) c.2208+1473A>G (n.2208+1473A>G) c.1540A>G (p.Lys514Glu) n.2816A>G | dbSNP |
| 17 | g.39725133A>T | CA399304700 | ERBB2 | c.2578A>T (p.Lys860Ter) c.2488A>T (p.Lys830Ter) c.1750A>T (p.Lys584Ter) c.2533A>T (p.Lys845Ter) c.*2368A>T (n.*2368A>T) c.684A>T n.3712A>T n.2902A>T c.2716A>T (p.Lys906Ter) c.2671A>T (p.Lys891Ter) c.2626A>T (p.Lys876Ter) c.2695A>T (p.Lys899Ter) c.2680A>T (p.Lys894Ter) c.2659A>T (p.Lys887Ter) c.2653A>T (p.Lys885Ter) c.2608A>T (p.Lys870Ter) c.2599A>T (p.Lys867Ter) c.2575A>T (p.Lys859Ter) c.2569A>T (p.Lys857Ter) c.2542A>T (p.Lys848Ter) c.2536A>T (p.Lys846Ter) c.2530A>T (p.Lys844Ter) c.2479A>T (p.Lys827Ter) c.2494-194A>T (n.2494-194A>T) c.2398A>T (p.Lys800Ter) c.2392A>T (p.Lys798Ter) c.2446-194A>T (n.2446-194A>T) c.2320A>T (p.Lys774Ter) c.2208+1473A>T (n.2208+1473A>T) c.1540A>T (p.Lys514Ter) n.2816A>T | dbSNP COSMIC |
| 17 | g.39725134A= | CA2259228147 | ERBB2 | c.2579A= (p.Lys860=) c.2489A= (p.Lys830=) c.1751A= (p.Lys584=) c.2534A= (p.Lys845=) c.*2369A= (n.*2369A=) c.685A= n.3713A= n.2903A= c.2717A= (p.Lys906=) c.2672A= (p.Lys891=) c.2627A= (p.Lys876=) c.2696A= (p.Lys899=) c.2681A= (p.Lys894=) c.2660A= (p.Lys887=) c.2654A= (p.Lys885=) c.2609A= (p.Lys870=) c.2600A= (p.Lys867=) c.2576A= (p.Lys859=) c.2570A= (p.Lys857=) c.2543A= (p.Lys848=) c.2537A= (p.Lys846=) c.2531A= (p.Lys844=) c.2480A= (p.Lys827=) c.2494-193A= (n.2494-193A=) c.2399A= (p.Lys800=) c.2393A= (p.Lys798=) c.2446-193A= (n.2446-193A=) c.2321A= (p.Lys774=) c.2208+1474A= (n.2208+1474A=) c.1541A= (p.Lys514=) n.2817A= | |
| 17 | g.39725134A>C | CA399304706 | ERBB2 | c.2579A>C (p.Lys860Thr) c.2489A>C (p.Lys830Thr) c.1751A>C (p.Lys584Thr) c.2534A>C (p.Lys845Thr) c.*2369A>C (n.*2369A>C) c.685A>C n.3713A>C n.2903A>C c.2717A>C (p.Lys906Thr) c.2672A>C (p.Lys891Thr) c.2627A>C (p.Lys876Thr) c.2696A>C (p.Lys899Thr) c.2681A>C (p.Lys894Thr) c.2660A>C (p.Lys887Thr) c.2654A>C (p.Lys885Thr) c.2609A>C (p.Lys870Thr) c.2600A>C (p.Lys867Thr) c.2576A>C (p.Lys859Thr) c.2570A>C (p.Lys857Thr) c.2543A>C (p.Lys848Thr) c.2537A>C (p.Lys846Thr) c.2531A>C (p.Lys844Thr) c.2480A>C (p.Lys827Thr) c.2494-193A>C (n.2494-193A>C) c.2399A>C (p.Lys800Thr) c.2393A>C (p.Lys798Thr) c.2446-193A>C (n.2446-193A>C) c.2321A>C (p.Lys774Thr) c.2208+1474A>C (n.2208+1474A>C) c.1541A>C (p.Lys514Thr) n.2817A>C | |
| 17 | g.39725134A>G | CA399304707 | ERBB2 | c.2579A>G (p.Lys860Arg) c.2489A>G (p.Lys830Arg) c.1751A>G (p.Lys584Arg) c.2534A>G (p.Lys845Arg) c.*2369A>G (n.*2369A>G) c.685A>G n.3713A>G n.2903A>G c.2717A>G (p.Lys906Arg) c.2672A>G (p.Lys891Arg) c.2627A>G (p.Lys876Arg) c.2696A>G (p.Lys899Arg) c.2681A>G (p.Lys894Arg) c.2660A>G (p.Lys887Arg) c.2654A>G (p.Lys885Arg) c.2609A>G (p.Lys870Arg) c.2600A>G (p.Lys867Arg) c.2576A>G (p.Lys859Arg) c.2570A>G (p.Lys857Arg) c.2543A>G (p.Lys848Arg) c.2537A>G (p.Lys846Arg) c.2531A>G (p.Lys844Arg) c.2480A>G (p.Lys827Arg) c.2494-193A>G (n.2494-193A>G) c.2399A>G (p.Lys800Arg) c.2393A>G (p.Lys798Arg) c.2446-193A>G (n.2446-193A>G) c.2321A>G (p.Lys774Arg) c.2208+1474A>G (n.2208+1474A>G) c.1541A>G (p.Lys514Arg) n.2817A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39725134A>T | CA399304710 | ERBB2 | c.2579A>T (p.Lys860Ile) c.2489A>T (p.Lys830Ile) c.1751A>T (p.Lys584Ile) c.2534A>T (p.Lys845Ile) c.*2369A>T (n.*2369A>T) c.685A>T n.3713A>T n.2903A>T c.2717A>T (p.Lys906Ile) c.2672A>T (p.Lys891Ile) c.2627A>T (p.Lys876Ile) c.2696A>T (p.Lys899Ile) c.2681A>T (p.Lys894Ile) c.2660A>T (p.Lys887Ile) c.2654A>T (p.Lys885Ile) c.2609A>T (p.Lys870Ile) c.2600A>T (p.Lys867Ile) c.2576A>T (p.Lys859Ile) c.2570A>T (p.Lys857Ile) c.2543A>T (p.Lys848Ile) c.2537A>T (p.Lys846Ile) c.2531A>T (p.Lys844Ile) c.2480A>T (p.Lys827Ile) c.2494-193A>T (n.2494-193A>T) c.2399A>T (p.Lys800Ile) c.2393A>T (p.Lys798Ile) c.2446-193A>T (n.2446-193A>T) c.2321A>T (p.Lys774Ile) c.2208+1474A>T (n.2208+1474A>T) c.1541A>T (p.Lys514Ile) n.2817A>T | dbSNP |
| 17 | g.39725135A>C | CA399304714 | ERBB2 | c.2580A>C (p.Lys860Asn) c.2490A>C (p.Lys830Asn) c.1752A>C (p.Lys584Asn) c.2535A>C (p.Lys845Asn) c.*2370A>C (n.*2370A>C) c.686A>C n.3714A>C n.2904A>C c.2718A>C (p.Lys906Asn) c.2673A>C (p.Lys891Asn) c.2628A>C (p.Lys876Asn) c.2697A>C (p.Lys899Asn) c.2682A>C (p.Lys894Asn) c.2661A>C (p.Lys887Asn) c.2655A>C (p.Lys885Asn) c.2610A>C (p.Lys870Asn) c.2601A>C (p.Lys867Asn) c.2577A>C (p.Lys859Asn) c.2571A>C (p.Lys857Asn) c.2544A>C (p.Lys848Asn) c.2538A>C (p.Lys846Asn) c.2532A>C (p.Lys844Asn) c.2481A>C (p.Lys827Asn) c.2494-192A>C (n.2494-192A>C) c.2400A>C (p.Lys800Asn) c.2394A>C (p.Lys798Asn) c.2446-192A>C (n.2446-192A>C) c.2322A>C (p.Lys774Asn) c.2208+1475A>C (n.2208+1475A>C) c.1542A>C (p.Lys514Asn) n.2818A>C | dbSNP |
| 17 | g.39725135A>G | CA499890171 | ERBB2 | c.2580A>G (p.Lys860=) c.2490A>G (p.Lys830=) c.1752A>G (p.Lys584=) c.2535A>G (p.Lys845=) c.*2370A>G (n.*2370A>G) c.686A>G n.3714A>G n.2904A>G c.2718A>G (p.Lys906=) c.2673A>G (p.Lys891=) c.2628A>G (p.Lys876=) c.2697A>G (p.Lys899=) c.2682A>G (p.Lys894=) c.2661A>G (p.Lys887=) c.2655A>G (p.Lys885=) c.2610A>G (p.Lys870=) c.2601A>G (p.Lys867=) c.2577A>G (p.Lys859=) c.2571A>G (p.Lys857=) c.2544A>G (p.Lys848=) c.2538A>G (p.Lys846=) c.2532A>G (p.Lys844=) c.2481A>G (p.Lys827=) c.2494-192A>G (n.2494-192A>G) c.2400A>G (p.Lys800=) c.2394A>G (p.Lys798=) c.2446-192A>G (n.2446-192A>G) c.2322A>G (p.Lys774=) c.2208+1475A>G (n.2208+1475A>G) c.1542A>G (p.Lys514=) n.2818A>G | dbSNP |
| 17 | g.39725135A>T | CA399304718 | ERBB2 | c.2580A>T (p.Lys860Asn) c.2490A>T (p.Lys830Asn) c.1752A>T (p.Lys584Asn) c.2535A>T (p.Lys845Asn) c.*2370A>T (n.*2370A>T) c.686A>T n.3714A>T n.2904A>T c.2718A>T (p.Lys906Asn) c.2673A>T (p.Lys891Asn) c.2628A>T (p.Lys876Asn) c.2697A>T (p.Lys899Asn) c.2682A>T (p.Lys894Asn) c.2661A>T (p.Lys887Asn) c.2655A>T (p.Lys885Asn) c.2610A>T (p.Lys870Asn) c.2601A>T (p.Lys867Asn) c.2577A>T (p.Lys859Asn) c.2571A>T (p.Lys857Asn) c.2544A>T (p.Lys848Asn) c.2538A>T (p.Lys846Asn) c.2532A>T (p.Lys844Asn) c.2481A>T (p.Lys827Asn) c.2494-192A>T (n.2494-192A>T) c.2400A>T (p.Lys800Asn) c.2394A>T (p.Lys798Asn) c.2446-192A>T (n.2446-192A>T) c.2322A>T (p.Lys774Asn) c.2208+1475A>T (n.2208+1475A>T) c.1542A>T (p.Lys514Asn) n.2818A>T | dbSNP gnomAD v4 |
| 17 | g.39725136A>C | CA399304719 | ERBB2 | c.2581A>C (p.Ile861Leu) c.2491A>C (p.Ile831Leu) c.1753A>C (p.Ile585Leu) c.2536A>C (p.Ile846Leu) c.*2371A>C (n.*2371A>C) c.687A>C n.3715A>C n.2905A>C c.2719A>C (p.Ile907Leu) c.2674A>C (p.Ile892Leu) c.2629A>C (p.Ile877Leu) c.2698A>C (p.Ile900Leu) c.2683A>C (p.Ile895Leu) c.2662A>C (p.Ile888Leu) c.2656A>C (p.Ile886Leu) c.2611A>C (p.Ile871Leu) c.2602A>C (p.Ile868Leu) c.2578A>C (p.Ile860Leu) c.2572A>C (p.Ile858Leu) c.2545A>C (p.Ile849Leu) c.2539A>C (p.Ile847Leu) c.2533A>C (p.Ile845Leu) c.2482A>C (p.Ile828Leu) c.2494-191A>C (n.2494-191A>C) c.2401A>C (p.Ile801Leu) c.2395A>C (p.Ile799Leu) c.2446-191A>C (n.2446-191A>C) c.2323A>C (p.Ile775Leu) c.2208+1476A>C (n.2208+1476A>C) c.1543A>C (p.Ile515Leu) n.2819A>C | |
| 17 | g.39725136A>G | CA399304720 | ERBB2 | c.2581A>G (p.Ile861Val) c.2491A>G (p.Ile831Val) c.1753A>G (p.Ile585Val) c.2536A>G (p.Ile846Val) c.*2371A>G (n.*2371A>G) c.687A>G n.3715A>G n.2905A>G c.2719A>G (p.Ile907Val) c.2674A>G (p.Ile892Val) c.2629A>G (p.Ile877Val) c.2698A>G (p.Ile900Val) c.2683A>G (p.Ile895Val) c.2662A>G (p.Ile888Val) c.2656A>G (p.Ile886Val) c.2611A>G (p.Ile871Val) c.2602A>G (p.Ile868Val) c.2578A>G (p.Ile860Val) c.2572A>G (p.Ile858Val) c.2545A>G (p.Ile849Val) c.2539A>G (p.Ile847Val) c.2533A>G (p.Ile845Val) c.2482A>G (p.Ile828Val) c.2494-191A>G (n.2494-191A>G) c.2401A>G (p.Ile801Val) c.2395A>G (p.Ile799Val) c.2446-191A>G (n.2446-191A>G) c.2323A>G (p.Ile775Val) c.2208+1476A>G (n.2208+1476A>G) c.1543A>G (p.Ile515Val) n.2819A>G | |
| 17 | g.39725136A>T | CA399304721 | ERBB2 | c.2581A>T (p.Ile861Phe) c.2491A>T (p.Ile831Phe) c.1753A>T (p.Ile585Phe) c.2536A>T (p.Ile846Phe) c.*2371A>T (n.*2371A>T) c.687A>T n.3715A>T n.2905A>T c.2719A>T (p.Ile907Phe) c.2674A>T (p.Ile892Phe) c.2629A>T (p.Ile877Phe) c.2698A>T (p.Ile900Phe) c.2683A>T (p.Ile895Phe) c.2662A>T (p.Ile888Phe) c.2656A>T (p.Ile886Phe) c.2611A>T (p.Ile871Phe) c.2602A>T (p.Ile868Phe) c.2578A>T (p.Ile860Phe) c.2572A>T (p.Ile858Phe) c.2545A>T (p.Ile849Phe) c.2539A>T (p.Ile847Phe) c.2533A>T (p.Ile845Phe) c.2482A>T (p.Ile828Phe) c.2494-191A>T (n.2494-191A>T) c.2401A>T (p.Ile801Phe) c.2395A>T (p.Ile799Phe) c.2446-191A>T (n.2446-191A>T) c.2323A>T (p.Ile775Phe) c.2208+1476A>T (n.2208+1476A>T) c.1543A>T (p.Ile515Phe) n.2819A>T | |
| 17 | g.39725137T>A | CA399304728 | ERBB2 | c.2582T>A (p.Ile861Asn) c.2492T>A (p.Ile831Asn) c.1754T>A (p.Ile585Asn) c.2537T>A (p.Ile846Asn) c.*2372T>A (n.*2372T>A) c.688T>A n.3716T>A n.2906T>A c.2720T>A (p.Ile907Asn) c.2675T>A (p.Ile892Asn) c.2630T>A (p.Ile877Asn) c.2699T>A (p.Ile900Asn) c.2684T>A (p.Ile895Asn) c.2663T>A (p.Ile888Asn) c.2657T>A (p.Ile886Asn) c.2612T>A (p.Ile871Asn) c.2603T>A (p.Ile868Asn) c.2579T>A (p.Ile860Asn) c.2573T>A (p.Ile858Asn) c.2546T>A (p.Ile849Asn) c.2540T>A (p.Ile847Asn) c.2534T>A (p.Ile845Asn) c.2483T>A (p.Ile828Asn) c.2494-190T>A (n.2494-190T>A) c.2402T>A (p.Ile801Asn) c.2396T>A (p.Ile799Asn) c.2446-190T>A (n.2446-190T>A) c.2324T>A (p.Ile775Asn) c.2208+1477T>A (n.2208+1477T>A) c.1544T>A (p.Ile515Asn) n.2820T>A | dbSNP |
| 17 | g.39725137T>C | CA399304724 | ERBB2 | c.2582T>C (p.Ile861Thr) c.2492T>C (p.Ile831Thr) c.1754T>C (p.Ile585Thr) c.2537T>C (p.Ile846Thr) c.*2372T>C (n.*2372T>C) c.688T>C n.3716T>C n.2906T>C c.2720T>C (p.Ile907Thr) c.2675T>C (p.Ile892Thr) c.2630T>C (p.Ile877Thr) c.2699T>C (p.Ile900Thr) c.2684T>C (p.Ile895Thr) c.2663T>C (p.Ile888Thr) c.2657T>C (p.Ile886Thr) c.2612T>C (p.Ile871Thr) c.2603T>C (p.Ile868Thr) c.2579T>C (p.Ile860Thr) c.2573T>C (p.Ile858Thr) c.2546T>C (p.Ile849Thr) c.2540T>C (p.Ile847Thr) c.2534T>C (p.Ile845Thr) c.2483T>C (p.Ile828Thr) c.2494-190T>C (n.2494-190T>C) c.2402T>C (p.Ile801Thr) c.2396T>C (p.Ile799Thr) c.2446-190T>C (n.2446-190T>C) c.2324T>C (p.Ile775Thr) c.2208+1477T>C (n.2208+1477T>C) c.1544T>C (p.Ile515Thr) n.2820T>C | dbSNP |
| 17 | g.39725137T>G | CA399304722 | ERBB2 | c.2582T>G (p.Ile861Ser) c.2492T>G (p.Ile831Ser) c.1754T>G (p.Ile585Ser) c.2537T>G (p.Ile846Ser) c.*2372T>G (n.*2372T>G) c.688T>G n.3716T>G n.2906T>G c.2720T>G (p.Ile907Ser) c.2675T>G (p.Ile892Ser) c.2630T>G (p.Ile877Ser) c.2699T>G (p.Ile900Ser) c.2684T>G (p.Ile895Ser) c.2663T>G (p.Ile888Ser) c.2657T>G (p.Ile886Ser) c.2612T>G (p.Ile871Ser) c.2603T>G (p.Ile868Ser) c.2579T>G (p.Ile860Ser) c.2573T>G (p.Ile858Ser) c.2546T>G (p.Ile849Ser) c.2540T>G (p.Ile847Ser) c.2534T>G (p.Ile845Ser) c.2483T>G (p.Ile828Ser) c.2494-190T>G (n.2494-190T>G) c.2402T>G (p.Ile801Ser) c.2396T>G (p.Ile799Ser) c.2446-190T>G (n.2446-190T>G) c.2324T>G (p.Ile775Ser) c.2208+1477T>G (n.2208+1477T>G) c.1544T>G (p.Ile515Ser) n.2820T>G | |
| 17 | g.39725138T>A | CA499890172 | ERBB2 | c.2583T>A (p.Ile861=) c.2493T>A (p.Ile831=) c.1755T>A (p.Ile585=) c.2538T>A (p.Ile846=) c.*2373T>A (n.*2373T>A) c.689T>A n.3717T>A n.2907T>A c.2721T>A (p.Ile907=) c.2676T>A (p.Ile892=) c.2631T>A (p.Ile877=) c.2700T>A (p.Ile900=) c.2685T>A (p.Ile895=) c.2664T>A (p.Ile888=) c.2658T>A (p.Ile886=) c.2613T>A (p.Ile871=) c.2604T>A (p.Ile868=) c.2580T>A (p.Ile860=) c.2574T>A (p.Ile858=) c.2547T>A (p.Ile849=) c.2541T>A (p.Ile847=) c.2535T>A (p.Ile845=) c.2484T>A (p.Ile828=) c.2494-189T>A (n.2494-189T>A) c.2403T>A (p.Ile801=) c.2397T>A (p.Ile799=) c.2446-189T>A (n.2446-189T>A) c.2325T>A (p.Ile775=) c.2208+1478T>A (n.2208+1478T>A) c.1545T>A (p.Ile515=) n.2821T>A | dbSNP |
| 17 | g.39725138T>C | CA499890173 | ERBB2 | c.2583T>C (p.Ile861=) c.2493T>C (p.Ile831=) c.1755T>C (p.Ile585=) c.2538T>C (p.Ile846=) c.*2373T>C (n.*2373T>C) c.689T>C n.3717T>C n.2907T>C c.2721T>C (p.Ile907=) c.2676T>C (p.Ile892=) c.2631T>C (p.Ile877=) c.2700T>C (p.Ile900=) c.2685T>C (p.Ile895=) c.2664T>C (p.Ile888=) c.2658T>C (p.Ile886=) c.2613T>C (p.Ile871=) c.2604T>C (p.Ile868=) c.2580T>C (p.Ile860=) c.2574T>C (p.Ile858=) c.2547T>C (p.Ile849=) c.2541T>C (p.Ile847=) c.2535T>C (p.Ile845=) c.2484T>C (p.Ile828=) c.2494-189T>C (n.2494-189T>C) c.2403T>C (p.Ile801=) c.2397T>C (p.Ile799=) c.2446-189T>C (n.2446-189T>C) c.2325T>C (p.Ile775=) c.2208+1478T>C (n.2208+1478T>C) c.1545T>C (p.Ile515=) n.2821T>C | dbSNP |
| 17 | g.39725138T>G | CA399304731 | ERBB2 | c.2583T>G (p.Ile861Met) c.2493T>G (p.Ile831Met) c.1755T>G (p.Ile585Met) c.2538T>G (p.Ile846Met) c.*2373T>G (n.*2373T>G) c.689T>G n.3717T>G n.2907T>G c.2721T>G (p.Ile907Met) c.2676T>G (p.Ile892Met) c.2631T>G (p.Ile877Met) c.2700T>G (p.Ile900Met) c.2685T>G (p.Ile895Met) c.2664T>G (p.Ile888Met) c.2658T>G (p.Ile886Met) c.2613T>G (p.Ile871Met) c.2604T>G (p.Ile868Met) c.2580T>G (p.Ile860Met) c.2574T>G (p.Ile858Met) c.2547T>G (p.Ile849Met) c.2541T>G (p.Ile847Met) c.2535T>G (p.Ile845Met) c.2484T>G (p.Ile828Met) c.2494-189T>G (n.2494-189T>G) c.2403T>G (p.Ile801Met) c.2397T>G (p.Ile799Met) c.2446-189T>G (n.2446-189T>G) c.2325T>G (p.Ile775Met) c.2208+1478T>G (n.2208+1478T>G) c.1545T>G (p.Ile515Met) n.2821T>G | |
| 17 | g.39725139A>C | CA399304734 | ERBB2 | c.2584A>C (p.Thr862Pro) c.2494A>C (p.Thr832Pro) c.1756A>C (p.Thr586Pro) c.2539A>C (p.Thr847Pro) c.*2374A>C (n.*2374A>C) c.690A>C n.3718A>C n.2908A>C c.2722A>C (p.Thr908Pro) c.2677A>C (p.Thr893Pro) c.2632A>C (p.Thr878Pro) c.2701A>C (p.Thr901Pro) c.2686A>C (p.Thr896Pro) c.2665A>C (p.Thr889Pro) c.2659A>C (p.Thr887Pro) c.2614A>C (p.Thr872Pro) c.2605A>C (p.Thr869Pro) c.2581A>C (p.Thr861Pro) c.2575A>C (p.Thr859Pro) c.2548A>C (p.Thr850Pro) c.2542A>C (p.Thr848Pro) c.2536A>C (p.Thr846Pro) c.2485A>C (p.Thr829Pro) c.2494-188A>C (n.2494-188A>C) c.2404A>C (p.Thr802Pro) c.2398A>C (p.Thr800Pro) c.2446-188A>C (n.2446-188A>C) c.2326A>C (p.Thr776Pro) c.2208+1479A>C (n.2208+1479A>C) c.1546A>C (p.Thr516Pro) n.2822A>C | dbSNP |
| 17 | g.39725139A>G | CA399304738 | ERBB2 | c.2584A>G (p.Thr862Ala) c.2494A>G (p.Thr832Ala) c.1756A>G (p.Thr586Ala) c.2539A>G (p.Thr847Ala) c.*2374A>G (n.*2374A>G) c.690A>G n.3718A>G n.2908A>G c.2722A>G (p.Thr908Ala) c.2677A>G (p.Thr893Ala) c.2632A>G (p.Thr878Ala) c.2701A>G (p.Thr901Ala) c.2686A>G (p.Thr896Ala) c.2665A>G (p.Thr889Ala) c.2659A>G (p.Thr887Ala) c.2614A>G (p.Thr872Ala) c.2605A>G (p.Thr869Ala) c.2581A>G (p.Thr861Ala) c.2575A>G (p.Thr859Ala) c.2548A>G (p.Thr850Ala) c.2542A>G (p.Thr848Ala) c.2536A>G (p.Thr846Ala) c.2485A>G (p.Thr829Ala) c.2494-188A>G (n.2494-188A>G) c.2404A>G (p.Thr802Ala) c.2398A>G (p.Thr800Ala) c.2446-188A>G (n.2446-188A>G) c.2326A>G (p.Thr776Ala) c.2208+1479A>G (n.2208+1479A>G) c.1546A>G (p.Thr516Ala) n.2822A>G | dbSNP COSMIC COSMIC |
| 17 | g.39725139A>T | CA399304741 | ERBB2 | c.2584A>T (p.Thr862Ser) c.2494A>T (p.Thr832Ser) c.1756A>T (p.Thr586Ser) c.2539A>T (p.Thr847Ser) c.*2374A>T (n.*2374A>T) c.690A>T n.3718A>T n.2908A>T c.2722A>T (p.Thr908Ser) c.2677A>T (p.Thr893Ser) c.2632A>T (p.Thr878Ser) c.2701A>T (p.Thr901Ser) c.2686A>T (p.Thr896Ser) c.2665A>T (p.Thr889Ser) c.2659A>T (p.Thr887Ser) c.2614A>T (p.Thr872Ser) c.2605A>T (p.Thr869Ser) c.2581A>T (p.Thr861Ser) c.2575A>T (p.Thr859Ser) c.2548A>T (p.Thr850Ser) c.2542A>T (p.Thr848Ser) c.2536A>T (p.Thr846Ser) c.2485A>T (p.Thr829Ser) c.2494-188A>T (n.2494-188A>T) c.2404A>T (p.Thr802Ser) c.2398A>T (p.Thr800Ser) c.2446-188A>T (n.2446-188A>T) c.2326A>T (p.Thr776Ser) c.2208+1479A>T (n.2208+1479A>T) c.1546A>T (p.Thr516Ser) n.2822A>T | dbSNP |