| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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>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>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 |