| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39727673_39727687del | CA2733497255 | ERBB2 | c.3413-16_3413-2del (n.3413-16_3413-2del) c.3323-16_3323-2del (n.3323-16_3323-2del) c.2585-16_2585-2del (n.2585-16_2585-2del) c.3368-16_3368-2del (n.3368-16_3368-2del) c.*3203-16_*3203-2del (n.*3203-16_*3203-2del) c.3160-16_3160-2del (n.3160-16_3160-2del) n.3737-16_3737-2del c.3551-16_3551-2del (n.3551-16_3551-2del) c.3506-16_3506-2del (n.3506-16_3506-2del) c.3461-16_3461-2del (n.3461-16_3461-2del) c.3530-16_3530-2del (n.3530-16_3530-2del) c.3515-16_3515-2del (n.3515-16_3515-2del) c.3494-16_3494-2del (n.3494-16_3494-2del) c.3488-16_3488-2del (n.3488-16_3488-2del) c.3443-16_3443-2del (n.3443-16_3443-2del) c.3434-16_3434-2del (n.3434-16_3434-2del) c.3410-16_3410-2del (n.3410-16_3410-2del) c.3404-16_3404-2del (n.3404-16_3404-2del) c.3377-16_3377-2del (n.3377-16_3377-2del) c.3371-16_3371-2del (n.3371-16_3371-2del) c.3365-16_3365-2del (n.3365-16_3365-2del) c.3326-16_3326-2del (n.3326-16_3326-2del) c.3314-16_3314-2del (n.3314-16_3314-2del) c.3257-16_3257-2del (n.3257-16_3257-2del) c.3233-16_3233-2del (n.3233-16_3233-2del) c.3227-16_3227-2del (n.3227-16_3227-2del) c.3209-16_3209-2del (n.3209-16_3209-2del) c.3155-16_3155-2del (n.3155-16_3155-2del) c.3118-16_3118-2del (n.3118-16_3118-2del) c.2462-16_2462-2del (n.2462-16_2462-2del) c.2375-16_2375-2del (n.2375-16_2375-2del) n.3651-16_3651-2del | dbSNP |
| 17 | g.39727685del | CA2259229215 | ERBB2 | c.3413-4del (n.3413-4del) c.3323-4del (n.3323-4del) c.2585-4del (n.2585-4del) c.3368-4del (n.3368-4del) c.*3203-4del (n.*3203-4del) c.3160-4del (n.3160-4del) n.3737-4del c.3551-4del (n.3551-4del) c.3506-4del (n.3506-4del) c.3461-4del (n.3461-4del) c.3530-4del (n.3530-4del) c.3515-4del (n.3515-4del) c.3494-4del (n.3494-4del) c.3488-4del (n.3488-4del) c.3443-4del (n.3443-4del) c.3434-4del (n.3434-4del) c.3410-4del (n.3410-4del) c.3404-4del (n.3404-4del) c.3377-4del (n.3377-4del) c.3371-4del (n.3371-4del) c.3365-4del (n.3365-4del) c.3326-4del (n.3326-4del) c.3314-4del (n.3314-4del) c.3257-4del (n.3257-4del) c.3233-4del (n.3233-4del) c.3227-4del (n.3227-4del) c.3209-4del (n.3209-4del) c.3155-4del (n.3155-4del) c.3118-4del (n.3118-4del) c.2462-4del (n.2462-4del) c.2375-4del (n.2375-4del) n.3651-4del | dbSNP gnomAD v4 |
| 17 | g.39727684T>A | CA2733497266 | ERBB2 | c.3413-5T>A (n.3413-5T>A) c.3323-5T>A (n.3323-5T>A) c.2585-5T>A (n.2585-5T>A) c.3368-5T>A (n.3368-5T>A) c.*3203-5T>A (n.*3203-5T>A) c.3160-5T>A (n.3160-5T>A) n.3737-5T>A c.3551-5T>A (n.3551-5T>A) c.3506-5T>A (n.3506-5T>A) c.3461-5T>A (n.3461-5T>A) c.3530-5T>A (n.3530-5T>A) c.3515-5T>A (n.3515-5T>A) c.3494-5T>A (n.3494-5T>A) c.3488-5T>A (n.3488-5T>A) c.3443-5T>A (n.3443-5T>A) c.3434-5T>A (n.3434-5T>A) c.3410-5T>A (n.3410-5T>A) c.3404-5T>A (n.3404-5T>A) c.3377-5T>A (n.3377-5T>A) c.3371-5T>A (n.3371-5T>A) c.3365-5T>A (n.3365-5T>A) c.3326-5T>A (n.3326-5T>A) c.3314-5T>A (n.3314-5T>A) c.3257-5T>A (n.3257-5T>A) c.3233-5T>A (n.3233-5T>A) c.3227-5T>A (n.3227-5T>A) c.3209-5T>A (n.3209-5T>A) c.3155-5T>A (n.3155-5T>A) c.3118-5T>A (n.3118-5T>A) c.2462-5T>A (n.2462-5T>A) c.2375-5T>A (n.2375-5T>A) n.3651-5T>A | dbSNP |
| 17 | g.39727684T>C | CA2733497267 | ERBB2 | c.3413-5T>C (n.3413-5T>C) c.3323-5T>C (n.3323-5T>C) c.2585-5T>C (n.2585-5T>C) c.3368-5T>C (n.3368-5T>C) c.*3203-5T>C (n.*3203-5T>C) c.3160-5T>C (n.3160-5T>C) n.3737-5T>C c.3551-5T>C (n.3551-5T>C) c.3506-5T>C (n.3506-5T>C) c.3461-5T>C (n.3461-5T>C) c.3530-5T>C (n.3530-5T>C) c.3515-5T>C (n.3515-5T>C) c.3494-5T>C (n.3494-5T>C) c.3488-5T>C (n.3488-5T>C) c.3443-5T>C (n.3443-5T>C) c.3434-5T>C (n.3434-5T>C) c.3410-5T>C (n.3410-5T>C) c.3404-5T>C (n.3404-5T>C) c.3377-5T>C (n.3377-5T>C) c.3371-5T>C (n.3371-5T>C) c.3365-5T>C (n.3365-5T>C) c.3326-5T>C (n.3326-5T>C) c.3314-5T>C (n.3314-5T>C) c.3257-5T>C (n.3257-5T>C) c.3233-5T>C (n.3233-5T>C) c.3227-5T>C (n.3227-5T>C) c.3209-5T>C (n.3209-5T>C) c.3155-5T>C (n.3155-5T>C) c.3118-5T>C (n.3118-5T>C) c.2462-5T>C (n.2462-5T>C) c.2375-5T>C (n.2375-5T>C) n.3651-5T>C | dbSNP |
| 17 | g.39727684T>G | CA2733497268 | ERBB2 | c.3413-5T>G (n.3413-5T>G) c.3323-5T>G (n.3323-5T>G) c.2585-5T>G (n.2585-5T>G) c.3368-5T>G (n.3368-5T>G) c.*3203-5T>G (n.*3203-5T>G) c.3160-5T>G (n.3160-5T>G) n.3737-5T>G c.3551-5T>G (n.3551-5T>G) c.3506-5T>G (n.3506-5T>G) c.3461-5T>G (n.3461-5T>G) c.3530-5T>G (n.3530-5T>G) c.3515-5T>G (n.3515-5T>G) c.3494-5T>G (n.3494-5T>G) c.3488-5T>G (n.3488-5T>G) c.3443-5T>G (n.3443-5T>G) c.3434-5T>G (n.3434-5T>G) c.3410-5T>G (n.3410-5T>G) c.3404-5T>G (n.3404-5T>G) c.3377-5T>G (n.3377-5T>G) c.3371-5T>G (n.3371-5T>G) c.3365-5T>G (n.3365-5T>G) c.3326-5T>G (n.3326-5T>G) c.3314-5T>G (n.3314-5T>G) c.3257-5T>G (n.3257-5T>G) c.3233-5T>G (n.3233-5T>G) c.3227-5T>G (n.3227-5T>G) c.3209-5T>G (n.3209-5T>G) c.3155-5T>G (n.3155-5T>G) c.3118-5T>G (n.3118-5T>G) c.2462-5T>G (n.2462-5T>G) c.2375-5T>G (n.2375-5T>G) n.3651-5T>G | dbSNP |
| 17 | g.39727685T>C | CA8534555 | ERBB2 | c.3413-4T>C (n.3413-4T>C) c.3323-4T>C (n.3323-4T>C) c.2585-4T>C (n.2585-4T>C) c.3368-4T>C (n.3368-4T>C) c.*3203-4T>C (n.*3203-4T>C) c.3160-4T>C (n.3160-4T>C) n.3737-4T>C c.3551-4T>C (n.3551-4T>C) c.3506-4T>C (n.3506-4T>C) c.3461-4T>C (n.3461-4T>C) c.3530-4T>C (n.3530-4T>C) c.3515-4T>C (n.3515-4T>C) c.3494-4T>C (n.3494-4T>C) c.3488-4T>C (n.3488-4T>C) c.3443-4T>C (n.3443-4T>C) c.3434-4T>C (n.3434-4T>C) c.3410-4T>C (n.3410-4T>C) c.3404-4T>C (n.3404-4T>C) c.3377-4T>C (n.3377-4T>C) c.3371-4T>C (n.3371-4T>C) c.3365-4T>C (n.3365-4T>C) c.3326-4T>C (n.3326-4T>C) c.3314-4T>C (n.3314-4T>C) c.3257-4T>C (n.3257-4T>C) c.3233-4T>C (n.3233-4T>C) c.3227-4T>C (n.3227-4T>C) c.3209-4T>C (n.3209-4T>C) c.3155-4T>C (n.3155-4T>C) c.3118-4T>C (n.3118-4T>C) c.2462-4T>C (n.2462-4T>C) c.2375-4T>C (n.2375-4T>C) n.3651-4T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39727685T= | CA2259229216 | ERBB2 | c.3413-4T= (n.3413-4T=) c.3323-4T= (n.3323-4T=) c.2585-4T= (n.2585-4T=) c.3368-4T= (n.3368-4T=) c.*3203-4T= (n.*3203-4T=) c.3160-4T= (n.3160-4T=) n.3737-4T= c.3551-4T= (n.3551-4T=) c.3506-4T= (n.3506-4T=) c.3461-4T= (n.3461-4T=) c.3530-4T= (n.3530-4T=) c.3515-4T= (n.3515-4T=) c.3494-4T= (n.3494-4T=) c.3488-4T= (n.3488-4T=) c.3443-4T= (n.3443-4T=) c.3434-4T= (n.3434-4T=) c.3410-4T= (n.3410-4T=) c.3404-4T= (n.3404-4T=) c.3377-4T= (n.3377-4T=) c.3371-4T= (n.3371-4T=) c.3365-4T= (n.3365-4T=) c.3326-4T= (n.3326-4T=) c.3314-4T= (n.3314-4T=) c.3257-4T= (n.3257-4T=) c.3233-4T= (n.3233-4T=) c.3227-4T= (n.3227-4T=) c.3209-4T= (n.3209-4T=) c.3155-4T= (n.3155-4T=) c.3118-4T= (n.3118-4T=) c.2462-4T= (n.2462-4T=) c.2375-4T= (n.2375-4T=) n.3651-4T= | |
| 17 | g.39727686C>A | CA2637629539 | ERBB2 | c.3413-3C>A (n.3413-3C>A) c.3323-3C>A (n.3323-3C>A) c.2585-3C>A (n.2585-3C>A) c.3368-3C>A (n.3368-3C>A) c.*3203-3C>A (n.*3203-3C>A) c.3160-3C>A (n.3160-3C>A) n.3737-3C>A c.3551-3C>A (n.3551-3C>A) c.3506-3C>A (n.3506-3C>A) c.3461-3C>A (n.3461-3C>A) c.3530-3C>A (n.3530-3C>A) c.3515-3C>A (n.3515-3C>A) c.3494-3C>A (n.3494-3C>A) c.3488-3C>A (n.3488-3C>A) c.3443-3C>A (n.3443-3C>A) c.3434-3C>A (n.3434-3C>A) c.3410-3C>A (n.3410-3C>A) c.3404-3C>A (n.3404-3C>A) c.3377-3C>A (n.3377-3C>A) c.3371-3C>A (n.3371-3C>A) c.3365-3C>A (n.3365-3C>A) c.3326-3C>A (n.3326-3C>A) c.3314-3C>A (n.3314-3C>A) c.3257-3C>A (n.3257-3C>A) c.3233-3C>A (n.3233-3C>A) c.3227-3C>A (n.3227-3C>A) c.3209-3C>A (n.3209-3C>A) c.3155-3C>A (n.3155-3C>A) c.3118-3C>A (n.3118-3C>A) c.2462-3C>A (n.2462-3C>A) c.2375-3C>A (n.2375-3C>A) n.3651-3C>A | dbSNP gnomAD v4 |
| 17 | g.39727686C>G | CA2733497270 | ERBB2 | c.3413-3C>G (n.3413-3C>G) c.3323-3C>G (n.3323-3C>G) c.2585-3C>G (n.2585-3C>G) c.3368-3C>G (n.3368-3C>G) c.*3203-3C>G (n.*3203-3C>G) c.3160-3C>G (n.3160-3C>G) n.3737-3C>G c.3551-3C>G (n.3551-3C>G) c.3506-3C>G (n.3506-3C>G) c.3461-3C>G (n.3461-3C>G) c.3530-3C>G (n.3530-3C>G) c.3515-3C>G (n.3515-3C>G) c.3494-3C>G (n.3494-3C>G) c.3488-3C>G (n.3488-3C>G) c.3443-3C>G (n.3443-3C>G) c.3434-3C>G (n.3434-3C>G) c.3410-3C>G (n.3410-3C>G) c.3404-3C>G (n.3404-3C>G) c.3377-3C>G (n.3377-3C>G) c.3371-3C>G (n.3371-3C>G) c.3365-3C>G (n.3365-3C>G) c.3326-3C>G (n.3326-3C>G) c.3314-3C>G (n.3314-3C>G) c.3257-3C>G (n.3257-3C>G) c.3233-3C>G (n.3233-3C>G) c.3227-3C>G (n.3227-3C>G) c.3209-3C>G (n.3209-3C>G) c.3155-3C>G (n.3155-3C>G) c.3118-3C>G (n.3118-3C>G) c.2462-3C>G (n.2462-3C>G) c.2375-3C>G (n.2375-3C>G) n.3651-3C>G | dbSNP |
| 17 | g.39727686C>T | CA2733497269 | ERBB2 | c.3413-3C>T (n.3413-3C>T) c.3323-3C>T (n.3323-3C>T) c.2585-3C>T (n.2585-3C>T) c.3368-3C>T (n.3368-3C>T) c.*3203-3C>T (n.*3203-3C>T) c.3160-3C>T (n.3160-3C>T) n.3737-3C>T c.3551-3C>T (n.3551-3C>T) c.3506-3C>T (n.3506-3C>T) c.3461-3C>T (n.3461-3C>T) c.3530-3C>T (n.3530-3C>T) c.3515-3C>T (n.3515-3C>T) c.3494-3C>T (n.3494-3C>T) c.3488-3C>T (n.3488-3C>T) c.3443-3C>T (n.3443-3C>T) c.3434-3C>T (n.3434-3C>T) c.3410-3C>T (n.3410-3C>T) c.3404-3C>T (n.3404-3C>T) c.3377-3C>T (n.3377-3C>T) c.3371-3C>T (n.3371-3C>T) c.3365-3C>T (n.3365-3C>T) c.3326-3C>T (n.3326-3C>T) c.3314-3C>T (n.3314-3C>T) c.3257-3C>T (n.3257-3C>T) c.3233-3C>T (n.3233-3C>T) c.3227-3C>T (n.3227-3C>T) c.3209-3C>T (n.3209-3C>T) c.3155-3C>T (n.3155-3C>T) c.3118-3C>T (n.3118-3C>T) c.2462-3C>T (n.2462-3C>T) c.2375-3C>T (n.2375-3C>T) n.3651-3C>T | dbSNP |
| 17 | g.39727687A>C | CA399312810 | ERBB2 | c.3413-2A>C (n.3413-2A>C) c.3323-2A>C (n.3323-2A>C) c.2585-2A>C (n.2585-2A>C) c.3368-2A>C (n.3368-2A>C) c.*3203-2A>C (n.*3203-2A>C) c.3160-2A>C (n.3160-2A>C) n.3737-2A>C c.3551-2A>C (n.3551-2A>C) c.3506-2A>C (n.3506-2A>C) c.3461-2A>C (n.3461-2A>C) c.3530-2A>C (n.3530-2A>C) c.3515-2A>C (n.3515-2A>C) c.3494-2A>C (n.3494-2A>C) c.3488-2A>C (n.3488-2A>C) c.3443-2A>C (n.3443-2A>C) c.3434-2A>C (n.3434-2A>C) c.3410-2A>C (n.3410-2A>C) c.3404-2A>C (n.3404-2A>C) c.3377-2A>C (n.3377-2A>C) c.3371-2A>C (n.3371-2A>C) c.3365-2A>C (n.3365-2A>C) c.3326-2A>C (n.3326-2A>C) c.3314-2A>C (n.3314-2A>C) c.3257-2A>C (n.3257-2A>C) c.3233-2A>C (n.3233-2A>C) c.3227-2A>C (n.3227-2A>C) c.3209-2A>C (n.3209-2A>C) c.3155-2A>C (n.3155-2A>C) c.3118-2A>C (n.3118-2A>C) c.2462-2A>C (n.2462-2A>C) c.2375-2A>C (n.2375-2A>C) n.3651-2A>C | |
| 17 | g.39727687A>G | CA399312811 | ERBB2 | c.3413-2A>G (n.3413-2A>G) c.3323-2A>G (n.3323-2A>G) c.2585-2A>G (n.2585-2A>G) c.3368-2A>G (n.3368-2A>G) c.*3203-2A>G (n.*3203-2A>G) c.3160-2A>G (n.3160-2A>G) n.3737-2A>G c.3551-2A>G (n.3551-2A>G) c.3506-2A>G (n.3506-2A>G) c.3461-2A>G (n.3461-2A>G) c.3530-2A>G (n.3530-2A>G) c.3515-2A>G (n.3515-2A>G) c.3494-2A>G (n.3494-2A>G) c.3488-2A>G (n.3488-2A>G) c.3443-2A>G (n.3443-2A>G) c.3434-2A>G (n.3434-2A>G) c.3410-2A>G (n.3410-2A>G) c.3404-2A>G (n.3404-2A>G) c.3377-2A>G (n.3377-2A>G) c.3371-2A>G (n.3371-2A>G) c.3365-2A>G (n.3365-2A>G) c.3326-2A>G (n.3326-2A>G) c.3314-2A>G (n.3314-2A>G) c.3257-2A>G (n.3257-2A>G) c.3233-2A>G (n.3233-2A>G) c.3227-2A>G (n.3227-2A>G) c.3209-2A>G (n.3209-2A>G) c.3155-2A>G (n.3155-2A>G) c.3118-2A>G (n.3118-2A>G) c.2462-2A>G (n.2462-2A>G) c.2375-2A>G (n.2375-2A>G) n.3651-2A>G | dbSNP |
| 17 | g.39727687A>T | CA399312812 | ERBB2 | c.3413-2A>T (n.3413-2A>T) c.3323-2A>T (n.3323-2A>T) c.2585-2A>T (n.2585-2A>T) c.3368-2A>T (n.3368-2A>T) c.*3203-2A>T (n.*3203-2A>T) c.3160-2A>T (n.3160-2A>T) n.3737-2A>T c.3551-2A>T (n.3551-2A>T) c.3506-2A>T (n.3506-2A>T) c.3461-2A>T (n.3461-2A>T) c.3530-2A>T (n.3530-2A>T) c.3515-2A>T (n.3515-2A>T) c.3494-2A>T (n.3494-2A>T) c.3488-2A>T (n.3488-2A>T) c.3443-2A>T (n.3443-2A>T) c.3434-2A>T (n.3434-2A>T) c.3410-2A>T (n.3410-2A>T) c.3404-2A>T (n.3404-2A>T) c.3377-2A>T (n.3377-2A>T) c.3371-2A>T (n.3371-2A>T) c.3365-2A>T (n.3365-2A>T) c.3326-2A>T (n.3326-2A>T) c.3314-2A>T (n.3314-2A>T) c.3257-2A>T (n.3257-2A>T) c.3233-2A>T (n.3233-2A>T) c.3227-2A>T (n.3227-2A>T) c.3209-2A>T (n.3209-2A>T) c.3155-2A>T (n.3155-2A>T) c.3118-2A>T (n.3118-2A>T) c.2462-2A>T (n.2462-2A>T) c.2375-2A>T (n.2375-2A>T) n.3651-2A>T | dbSNP |
| 17 | g.39727688G>A | CA399312813 | ERBB2 | c.3413-1G>A (n.3413-1G>A) c.3323-1G>A (n.3323-1G>A) c.2585-1G>A (n.2585-1G>A) c.3368-1G>A (n.3368-1G>A) c.*3203-1G>A (n.*3203-1G>A) c.3160-1G>A (n.3160-1G>A) n.3737-1G>A c.3551-1G>A (n.3551-1G>A) c.3506-1G>A (n.3506-1G>A) c.3461-1G>A (n.3461-1G>A) c.3530-1G>A (n.3530-1G>A) c.3515-1G>A (n.3515-1G>A) c.3494-1G>A (n.3494-1G>A) c.3488-1G>A (n.3488-1G>A) c.3443-1G>A (n.3443-1G>A) c.3434-1G>A (n.3434-1G>A) c.3410-1G>A (n.3410-1G>A) c.3404-1G>A (n.3404-1G>A) c.3377-1G>A (n.3377-1G>A) c.3371-1G>A (n.3371-1G>A) c.3365-1G>A (n.3365-1G>A) c.3326-1G>A (n.3326-1G>A) c.3314-1G>A (n.3314-1G>A) c.3257-1G>A (n.3257-1G>A) c.3233-1G>A (n.3233-1G>A) c.3227-1G>A (n.3227-1G>A) c.3209-1G>A (n.3209-1G>A) c.3155-1G>A (n.3155-1G>A) c.3118-1G>A (n.3118-1G>A) c.2462-1G>A (n.2462-1G>A) c.2375-1G>A (n.2375-1G>A) n.3651-1G>A | gnomAD v4 |
| 17 | g.39727688G>C | CA8534556 | ERBB2 | c.3413-1G>C (n.3413-1G>C) c.3323-1G>C (n.3323-1G>C) c.2585-1G>C (n.2585-1G>C) c.3368-1G>C (n.3368-1G>C) c.*3203-1G>C (n.*3203-1G>C) c.3160-1G>C (n.3160-1G>C) n.3737-1G>C c.3551-1G>C (n.3551-1G>C) c.3506-1G>C (n.3506-1G>C) c.3461-1G>C (n.3461-1G>C) c.3530-1G>C (n.3530-1G>C) c.3515-1G>C (n.3515-1G>C) c.3494-1G>C (n.3494-1G>C) c.3488-1G>C (n.3488-1G>C) c.3443-1G>C (n.3443-1G>C) c.3434-1G>C (n.3434-1G>C) c.3410-1G>C (n.3410-1G>C) c.3404-1G>C (n.3404-1G>C) c.3377-1G>C (n.3377-1G>C) c.3371-1G>C (n.3371-1G>C) c.3365-1G>C (n.3365-1G>C) c.3326-1G>C (n.3326-1G>C) c.3314-1G>C (n.3314-1G>C) c.3257-1G>C (n.3257-1G>C) c.3233-1G>C (n.3233-1G>C) c.3227-1G>C (n.3227-1G>C) c.3209-1G>C (n.3209-1G>C) c.3155-1G>C (n.3155-1G>C) c.3118-1G>C (n.3118-1G>C) c.2462-1G>C (n.2462-1G>C) c.2375-1G>C (n.2375-1G>C) n.3651-1G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39727688G= | CA2259229217 | ERBB2 | c.3413-1G= (n.3413-1G=) c.3323-1G= (n.3323-1G=) c.2585-1G= (n.2585-1G=) c.3368-1G= (n.3368-1G=) c.*3203-1G= (n.*3203-1G=) c.3160-1G= (n.3160-1G=) n.3737-1G= c.3551-1G= (n.3551-1G=) c.3506-1G= (n.3506-1G=) c.3461-1G= (n.3461-1G=) c.3530-1G= (n.3530-1G=) c.3515-1G= (n.3515-1G=) c.3494-1G= (n.3494-1G=) c.3488-1G= (n.3488-1G=) c.3443-1G= (n.3443-1G=) c.3434-1G= (n.3434-1G=) c.3410-1G= (n.3410-1G=) c.3404-1G= (n.3404-1G=) c.3377-1G= (n.3377-1G=) c.3371-1G= (n.3371-1G=) c.3365-1G= (n.3365-1G=) c.3326-1G= (n.3326-1G=) c.3314-1G= (n.3314-1G=) c.3257-1G= (n.3257-1G=) c.3233-1G= (n.3233-1G=) c.3227-1G= (n.3227-1G=) c.3209-1G= (n.3209-1G=) c.3155-1G= (n.3155-1G=) c.3118-1G= (n.3118-1G=) c.2462-1G= (n.2462-1G=) c.2375-1G= (n.2375-1G=) n.3651-1G= | |
| 17 | g.39727688G>T | CA399312814 | ERBB2 | c.3413-1G>T (n.3413-1G>T) c.3323-1G>T (n.3323-1G>T) c.2585-1G>T (n.2585-1G>T) c.3368-1G>T (n.3368-1G>T) c.*3203-1G>T (n.*3203-1G>T) c.3160-1G>T (n.3160-1G>T) n.3737-1G>T c.3551-1G>T (n.3551-1G>T) c.3506-1G>T (n.3506-1G>T) c.3461-1G>T (n.3461-1G>T) c.3530-1G>T (n.3530-1G>T) c.3515-1G>T (n.3515-1G>T) c.3494-1G>T (n.3494-1G>T) c.3488-1G>T (n.3488-1G>T) c.3443-1G>T (n.3443-1G>T) c.3434-1G>T (n.3434-1G>T) c.3410-1G>T (n.3410-1G>T) c.3404-1G>T (n.3404-1G>T) c.3377-1G>T (n.3377-1G>T) c.3371-1G>T (n.3371-1G>T) c.3365-1G>T (n.3365-1G>T) c.3326-1G>T (n.3326-1G>T) c.3314-1G>T (n.3314-1G>T) c.3257-1G>T (n.3257-1G>T) c.3233-1G>T (n.3233-1G>T) c.3227-1G>T (n.3227-1G>T) c.3209-1G>T (n.3209-1G>T) c.3155-1G>T (n.3155-1G>T) c.3118-1G>T (n.3118-1G>T) c.2462-1G>T (n.2462-1G>T) c.2375-1G>T (n.2375-1G>T) n.3651-1G>T | |
| 17 | g.39727689A>C | CA399312815 | ERBB2 | c.3413A>C (p.Glu1138Ala) c.3323A>C (p.Glu1108Ala) c.2585A>C (p.Glu862Ala) c.3368A>C (p.Glu1123Ala) c.*3203A>C (n.*3203A>C) c.3160A>C (p.Asn1054His) n.3737A>C c.3551A>C (p.Glu1184Ala) c.3506A>C (p.Glu1169Ala) c.3461A>C (p.Glu1154Ala) c.3530A>C (p.Glu1177Ala) c.3515A>C (p.Glu1172Ala) c.3494A>C (p.Glu1165Ala) c.3488A>C (p.Glu1163Ala) c.3443A>C (p.Glu1148Ala) c.3434A>C (p.Glu1145Ala) c.3410A>C (p.Glu1137Ala) c.3404A>C (p.Glu1135Ala) c.3377A>C (p.Glu1126Ala) c.3371A>C (p.Glu1124Ala) c.3365A>C (p.Glu1122Ala) c.3326A>C (p.Glu1109Ala) c.3314A>C (p.Glu1105Ala) c.3257A>C (p.Glu1086Ala) c.3233A>C (p.Glu1078Ala) c.3227A>C (p.Glu1076Ala) c.3209A>C (p.Glu1070Ala) c.3155A>C (p.Glu1052Ala) c.3118A>C (p.Asn1040His) c.2462A>C (p.Glu821Ala) c.2375A>C (p.Glu792Ala) n.3651A>C | |
| 17 | g.39727689A>G | CA399312816 | ERBB2 | c.3413A>G (p.Glu1138Gly) c.3323A>G (p.Glu1108Gly) c.2585A>G (p.Glu862Gly) c.3368A>G (p.Glu1123Gly) c.*3203A>G (n.*3203A>G) c.3160A>G (p.Asn1054Asp) n.3737A>G c.3551A>G (p.Glu1184Gly) c.3506A>G (p.Glu1169Gly) c.3461A>G (p.Glu1154Gly) c.3530A>G (p.Glu1177Gly) c.3515A>G (p.Glu1172Gly) c.3494A>G (p.Glu1165Gly) c.3488A>G (p.Glu1163Gly) c.3443A>G (p.Glu1148Gly) c.3434A>G (p.Glu1145Gly) c.3410A>G (p.Glu1137Gly) c.3404A>G (p.Glu1135Gly) c.3377A>G (p.Glu1126Gly) c.3371A>G (p.Glu1124Gly) c.3365A>G (p.Glu1122Gly) c.3326A>G (p.Glu1109Gly) c.3314A>G (p.Glu1105Gly) c.3257A>G (p.Glu1086Gly) c.3233A>G (p.Glu1078Gly) c.3227A>G (p.Glu1076Gly) c.3209A>G (p.Glu1070Gly) c.3155A>G (p.Glu1052Gly) c.3118A>G (p.Asn1040Asp) c.2462A>G (p.Glu821Gly) c.2375A>G (p.Glu792Gly) n.3651A>G | dbSNP |
| 17 | g.39727689A>T | CA399312817 | ERBB2 | c.3413A>T (p.Glu1138Val) c.3323A>T (p.Glu1108Val) c.2585A>T (p.Glu862Val) c.3368A>T (p.Glu1123Val) c.*3203A>T (n.*3203A>T) c.3160A>T (p.Asn1054Tyr) n.3737A>T c.3551A>T (p.Glu1184Val) c.3506A>T (p.Glu1169Val) c.3461A>T (p.Glu1154Val) c.3530A>T (p.Glu1177Val) c.3515A>T (p.Glu1172Val) c.3494A>T (p.Glu1165Val) c.3488A>T (p.Glu1163Val) c.3443A>T (p.Glu1148Val) c.3434A>T (p.Glu1145Val) c.3410A>T (p.Glu1137Val) c.3404A>T (p.Glu1135Val) c.3377A>T (p.Glu1126Val) c.3371A>T (p.Glu1124Val) c.3365A>T (p.Glu1122Val) c.3326A>T (p.Glu1109Val) c.3314A>T (p.Glu1105Val) c.3257A>T (p.Glu1086Val) c.3233A>T (p.Glu1078Val) c.3227A>T (p.Glu1076Val) c.3209A>T (p.Glu1070Val) c.3155A>T (p.Glu1052Val) c.3118A>T (p.Asn1040Tyr) c.2462A>T (p.Glu821Val) c.2375A>T (p.Glu792Val) n.3651A>T | dbSNP |
| 17 | g.39727690A>C | CA399312818 | ERBB2 | c.3414A>C (p.Glu1138Asp) c.3324A>C (p.Glu1108Asp) c.2586A>C (p.Glu862Asp) c.3369A>C (p.Glu1123Asp) c.*3204A>C (n.*3204A>C) c.3161A>C (p.Asn1054Thr) n.3738A>C c.3552A>C (p.Glu1184Asp) c.3507A>C (p.Glu1169Asp) c.3462A>C (p.Glu1154Asp) c.3531A>C (p.Glu1177Asp) c.3516A>C (p.Glu1172Asp) c.3495A>C (p.Glu1165Asp) c.3489A>C (p.Glu1163Asp) c.3444A>C (p.Glu1148Asp) c.3435A>C (p.Glu1145Asp) c.3411A>C (p.Glu1137Asp) c.3405A>C (p.Glu1135Asp) c.3378A>C (p.Glu1126Asp) c.3372A>C (p.Glu1124Asp) c.3366A>C (p.Glu1122Asp) c.3327A>C (p.Glu1109Asp) c.3315A>C (p.Glu1105Asp) c.3258A>C (p.Glu1086Asp) c.3234A>C (p.Glu1078Asp) c.3228A>C (p.Glu1076Asp) c.3210A>C (p.Glu1070Asp) c.3156A>C (p.Glu1052Asp) c.3119A>C (p.Asn1040Thr) c.2463A>C (p.Glu821Asp) c.2376A>C (p.Glu792Asp) n.3652A>C | |
| 17 | g.39727690A>G | CA399312819 | ERBB2 | c.3414A>G (p.Glu1138=) c.3324A>G (p.Glu1108=) c.2586A>G (p.Glu862=) c.3369A>G (p.Glu1123=) c.*3204A>G (n.*3204A>G) c.3161A>G (p.Asn1054Ser) n.3738A>G c.3552A>G (p.Glu1184=) c.3507A>G (p.Glu1169=) c.3462A>G (p.Glu1154=) c.3531A>G (p.Glu1177=) c.3516A>G (p.Glu1172=) c.3495A>G (p.Glu1165=) c.3489A>G (p.Glu1163=) c.3444A>G (p.Glu1148=) c.3435A>G (p.Glu1145=) c.3411A>G (p.Glu1137=) c.3405A>G (p.Glu1135=) c.3378A>G (p.Glu1126=) c.3372A>G (p.Glu1124=) c.3366A>G (p.Glu1122=) c.3327A>G (p.Glu1109=) c.3315A>G (p.Glu1105=) c.3258A>G (p.Glu1086=) c.3234A>G (p.Glu1078=) c.3228A>G (p.Glu1076=) c.3210A>G (p.Glu1070=) c.3156A>G (p.Glu1052=) c.3119A>G (p.Asn1040Ser) c.2463A>G (p.Glu821=) c.2376A>G (p.Glu792=) n.3652A>G | |
| 17 | g.39727690A>T | CA399312820 | ERBB2 | c.3414A>T (p.Glu1138Asp) c.3324A>T (p.Glu1108Asp) c.2586A>T (p.Glu862Asp) c.3369A>T (p.Glu1123Asp) c.*3204A>T (n.*3204A>T) c.3161A>T (p.Asn1054Ile) n.3738A>T c.3552A>T (p.Glu1184Asp) c.3507A>T (p.Glu1169Asp) c.3462A>T (p.Glu1154Asp) c.3531A>T (p.Glu1177Asp) c.3516A>T (p.Glu1172Asp) c.3495A>T (p.Glu1165Asp) c.3489A>T (p.Glu1163Asp) c.3444A>T (p.Glu1148Asp) c.3435A>T (p.Glu1145Asp) c.3411A>T (p.Glu1137Asp) c.3405A>T (p.Glu1135Asp) c.3378A>T (p.Glu1126Asp) c.3372A>T (p.Glu1124Asp) c.3366A>T (p.Glu1122Asp) c.3327A>T (p.Glu1109Asp) c.3315A>T (p.Glu1105Asp) c.3258A>T (p.Glu1086Asp) c.3234A>T (p.Glu1078Asp) c.3228A>T (p.Glu1076Asp) c.3210A>T (p.Glu1070Asp) c.3156A>T (p.Glu1052Asp) c.3119A>T (p.Asn1040Ile) c.2463A>T (p.Glu821Asp) c.2376A>T (p.Glu792Asp) n.3652A>T | dbSNP |
| 17 | g.39727692_39727693del | CA2576254912 | ERBB2 | c.3416_3417del (p.Tyr1139CysfsTer?) c.3326_3327del (p.Tyr1109CysfsTer?) c.2588_2589del (p.Tyr863CysfsTer?) c.3371_3372del (p.Tyr1124CysfsTer?) c.*3206_*3207del (n.*3206_*3207del) c.3163_3164del (p.Met1055ValfsTer?) n.3740_3741del c.3554_3555del (p.Tyr1185CysfsTer?) c.3509_3510del (p.Tyr1170CysfsTer?) c.3464_3465del (p.Tyr1155CysfsTer?) c.3533_3534del (p.Tyr1178CysfsTer?) c.3518_3519del (p.Tyr1173CysfsTer?) c.3497_3498del (p.Tyr1166CysfsTer?) c.3491_3492del (p.Tyr1164CysfsTer?) c.3446_3447del (p.Tyr1149CysfsTer?) c.3437_3438del (p.Tyr1146CysfsTer?) c.3413_3414del (p.Tyr1138CysfsTer?) c.3407_3408del (p.Tyr1136CysfsTer?) c.3380_3381del (p.Tyr1127CysfsTer?) c.3374_3375del (p.Tyr1125CysfsTer?) c.3368_3369del (p.Tyr1123CysfsTer?) c.3329_3330del (p.Tyr1110CysfsTer?) c.3317_3318del (p.Tyr1106CysfsTer?) c.3260_3261del (p.Tyr1087CysfsTer?) c.3236_3237del (p.Tyr1079CysfsTer?) c.3230_3231del (p.Tyr1077CysfsTer?) c.3212_3213del (p.Tyr1071CysfsTer?) c.3158_3159del (p.Tyr1053CysfsTer?) c.3121_3122del (p.Met1041ValfsTer?) c.2465_2466del (p.Tyr822CysfsTer?) c.2378_2379del (p.Tyr793CysfsTer?) n.3654_3655del | |
| 17 | g.39727691T>A | CA399312821 | ERBB2 | c.3415T>A (p.Tyr1139Asn) c.3325T>A (p.Tyr1109Asn) c.2587T>A (p.Tyr863Asn) c.3370T>A (p.Tyr1124Asn) c.*3205T>A (n.*3205T>A) c.3162T>A (p.Asn1054Lys) n.3739T>A c.3553T>A (p.Tyr1185Asn) c.3508T>A (p.Tyr1170Asn) c.3463T>A (p.Tyr1155Asn) c.3532T>A (p.Tyr1178Asn) c.3517T>A (p.Tyr1173Asn) c.3496T>A (p.Tyr1166Asn) c.3490T>A (p.Tyr1164Asn) c.3445T>A (p.Tyr1149Asn) c.3436T>A (p.Tyr1146Asn) c.3412T>A (p.Tyr1138Asn) c.3406T>A (p.Tyr1136Asn) c.3379T>A (p.Tyr1127Asn) c.3373T>A (p.Tyr1125Asn) c.3367T>A (p.Tyr1123Asn) c.3328T>A (p.Tyr1110Asn) c.3316T>A (p.Tyr1106Asn) c.3259T>A (p.Tyr1087Asn) c.3235T>A (p.Tyr1079Asn) c.3229T>A (p.Tyr1077Asn) c.3211T>A (p.Tyr1071Asn) c.3157T>A (p.Tyr1053Asn) c.3120T>A (p.Asn1040Lys) c.2464T>A (p.Tyr822Asn) c.2377T>A (p.Tyr793Asn) n.3653T>A | dbSNP |
| 17 | g.39727691T>C | CA399312823 | ERBB2 | c.3415T>C (p.Tyr1139His) c.3325T>C (p.Tyr1109His) c.2587T>C (p.Tyr863His) c.3370T>C (p.Tyr1124His) c.*3205T>C (n.*3205T>C) c.3162T>C (p.Asn1054=) n.3739T>C c.3553T>C (p.Tyr1185His) c.3508T>C (p.Tyr1170His) c.3463T>C (p.Tyr1155His) c.3532T>C (p.Tyr1178His) c.3517T>C (p.Tyr1173His) c.3496T>C (p.Tyr1166His) c.3490T>C (p.Tyr1164His) c.3445T>C (p.Tyr1149His) c.3436T>C (p.Tyr1146His) c.3412T>C (p.Tyr1138His) c.3406T>C (p.Tyr1136His) c.3379T>C (p.Tyr1127His) c.3373T>C (p.Tyr1125His) c.3367T>C (p.Tyr1123His) c.3328T>C (p.Tyr1110His) c.3316T>C (p.Tyr1106His) c.3259T>C (p.Tyr1087His) c.3235T>C (p.Tyr1079His) c.3229T>C (p.Tyr1077His) c.3211T>C (p.Tyr1071His) c.3157T>C (p.Tyr1053His) c.3120T>C (p.Asn1040=) c.2464T>C (p.Tyr822His) c.2377T>C (p.Tyr793His) n.3653T>C | dbSNP |
| 17 | g.39727691T>G | CA399312822 | ERBB2 | c.3415T>G (p.Tyr1139Asp) c.3325T>G (p.Tyr1109Asp) c.2587T>G (p.Tyr863Asp) c.3370T>G (p.Tyr1124Asp) c.*3205T>G (n.*3205T>G) c.3162T>G (p.Asn1054Lys) n.3739T>G c.3553T>G (p.Tyr1185Asp) c.3508T>G (p.Tyr1170Asp) c.3463T>G (p.Tyr1155Asp) c.3532T>G (p.Tyr1178Asp) c.3517T>G (p.Tyr1173Asp) c.3496T>G (p.Tyr1166Asp) c.3490T>G (p.Tyr1164Asp) c.3445T>G (p.Tyr1149Asp) c.3436T>G (p.Tyr1146Asp) c.3412T>G (p.Tyr1138Asp) c.3406T>G (p.Tyr1136Asp) c.3379T>G (p.Tyr1127Asp) c.3373T>G (p.Tyr1125Asp) c.3367T>G (p.Tyr1123Asp) c.3328T>G (p.Tyr1110Asp) c.3316T>G (p.Tyr1106Asp) c.3259T>G (p.Tyr1087Asp) c.3235T>G (p.Tyr1079Asp) c.3229T>G (p.Tyr1077Asp) c.3211T>G (p.Tyr1071Asp) c.3157T>G (p.Tyr1053Asp) c.3120T>G (p.Asn1040Lys) c.2464T>G (p.Tyr822Asp) c.2377T>G (p.Tyr793Asp) n.3653T>G | dbSNP |
| 17 | g.39727692A>C | CA399312824 | ERBB2 | c.3416A>C (p.Tyr1139Ser) c.3326A>C (p.Tyr1109Ser) c.2588A>C (p.Tyr863Ser) c.3371A>C (p.Tyr1124Ser) c.*3206A>C (n.*3206A>C) c.3163A>C (p.Met1055Leu) n.3740A>C c.3554A>C (p.Tyr1185Ser) c.3509A>C (p.Tyr1170Ser) c.3464A>C (p.Tyr1155Ser) c.3533A>C (p.Tyr1178Ser) c.3518A>C (p.Tyr1173Ser) c.3497A>C (p.Tyr1166Ser) c.3491A>C (p.Tyr1164Ser) c.3446A>C (p.Tyr1149Ser) c.3437A>C (p.Tyr1146Ser) c.3413A>C (p.Tyr1138Ser) c.3407A>C (p.Tyr1136Ser) c.3380A>C (p.Tyr1127Ser) c.3374A>C (p.Tyr1125Ser) c.3368A>C (p.Tyr1123Ser) c.3329A>C (p.Tyr1110Ser) c.3317A>C (p.Tyr1106Ser) c.3260A>C (p.Tyr1087Ser) c.3236A>C (p.Tyr1079Ser) c.3230A>C (p.Tyr1077Ser) c.3212A>C (p.Tyr1071Ser) c.3158A>C (p.Tyr1053Ser) c.3121A>C (p.Met1041Leu) c.2465A>C (p.Tyr822Ser) c.2378A>C (p.Tyr793Ser) n.3654A>C | |
| 17 | g.39727692A>G | CA399312825 | ERBB2 | c.3416A>G (p.Tyr1139Cys) c.3326A>G (p.Tyr1109Cys) c.2588A>G (p.Tyr863Cys) c.3371A>G (p.Tyr1124Cys) c.*3206A>G (n.*3206A>G) c.3163A>G (p.Met1055Val) n.3740A>G c.3554A>G (p.Tyr1185Cys) c.3509A>G (p.Tyr1170Cys) c.3464A>G (p.Tyr1155Cys) c.3533A>G (p.Tyr1178Cys) c.3518A>G (p.Tyr1173Cys) c.3497A>G (p.Tyr1166Cys) c.3491A>G (p.Tyr1164Cys) c.3446A>G (p.Tyr1149Cys) c.3437A>G (p.Tyr1146Cys) c.3413A>G (p.Tyr1138Cys) c.3407A>G (p.Tyr1136Cys) c.3380A>G (p.Tyr1127Cys) c.3374A>G (p.Tyr1125Cys) c.3368A>G (p.Tyr1123Cys) c.3329A>G (p.Tyr1110Cys) c.3317A>G (p.Tyr1106Cys) c.3260A>G (p.Tyr1087Cys) c.3236A>G (p.Tyr1079Cys) c.3230A>G (p.Tyr1077Cys) c.3212A>G (p.Tyr1071Cys) c.3158A>G (p.Tyr1053Cys) c.3121A>G (p.Met1041Val) c.2465A>G (p.Tyr822Cys) c.2378A>G (p.Tyr793Cys) n.3654A>G | |
| 17 | g.39727692A>T | CA399312826 | ERBB2 | c.3416A>T (p.Tyr1139Phe) c.3326A>T (p.Tyr1109Phe) c.2588A>T (p.Tyr863Phe) c.3371A>T (p.Tyr1124Phe) c.*3206A>T (n.*3206A>T) c.3163A>T (p.Met1055Leu) n.3740A>T c.3554A>T (p.Tyr1185Phe) c.3509A>T (p.Tyr1170Phe) c.3464A>T (p.Tyr1155Phe) c.3533A>T (p.Tyr1178Phe) c.3518A>T (p.Tyr1173Phe) c.3497A>T (p.Tyr1166Phe) c.3491A>T (p.Tyr1164Phe) c.3446A>T (p.Tyr1149Phe) c.3437A>T (p.Tyr1146Phe) c.3413A>T (p.Tyr1138Phe) c.3407A>T (p.Tyr1136Phe) c.3380A>T (p.Tyr1127Phe) c.3374A>T (p.Tyr1125Phe) c.3368A>T (p.Tyr1123Phe) c.3329A>T (p.Tyr1110Phe) c.3317A>T (p.Tyr1106Phe) c.3260A>T (p.Tyr1087Phe) c.3236A>T (p.Tyr1079Phe) c.3230A>T (p.Tyr1077Phe) c.3212A>T (p.Tyr1071Phe) c.3158A>T (p.Tyr1053Phe) c.3121A>T (p.Met1041Leu) c.2465A>T (p.Tyr822Phe) c.2378A>T (p.Tyr793Phe) n.3654A>T | |
| 17 | g.39727693T>A | CA399312827 | ERBB2 | c.3417T>A (p.Tyr1139Ter) c.3327T>A (p.Tyr1109Ter) c.2589T>A (p.Tyr863Ter) c.3372T>A (p.Tyr1124Ter) c.*3207T>A (n.*3207T>A) c.3164T>A (p.Met1055Lys) n.3741T>A c.3555T>A (p.Tyr1185Ter) c.3510T>A (p.Tyr1170Ter) c.3465T>A (p.Tyr1155Ter) c.3534T>A (p.Tyr1178Ter) c.3519T>A (p.Tyr1173Ter) c.3498T>A (p.Tyr1166Ter) c.3492T>A (p.Tyr1164Ter) c.3447T>A (p.Tyr1149Ter) c.3438T>A (p.Tyr1146Ter) c.3414T>A (p.Tyr1138Ter) c.3408T>A (p.Tyr1136Ter) c.3381T>A (p.Tyr1127Ter) c.3375T>A (p.Tyr1125Ter) c.3369T>A (p.Tyr1123Ter) c.3330T>A (p.Tyr1110Ter) c.3318T>A (p.Tyr1106Ter) c.3261T>A (p.Tyr1087Ter) c.3237T>A (p.Tyr1079Ter) c.3231T>A (p.Tyr1077Ter) c.3213T>A (p.Tyr1071Ter) c.3159T>A (p.Tyr1053Ter) c.3122T>A (p.Met1041Lys) c.2466T>A (p.Tyr822Ter) c.2379T>A (p.Tyr793Ter) n.3655T>A | dbSNP |
| 17 | g.39727693T>C | CA8534557 | ERBB2 | c.3417T>C (p.Tyr1139=) c.3327T>C (p.Tyr1109=) c.2589T>C (p.Tyr863=) c.3372T>C (p.Tyr1124=) c.*3207T>C (n.*3207T>C) c.3164T>C (p.Met1055Thr) n.3741T>C c.3555T>C (p.Tyr1185=) c.3510T>C (p.Tyr1170=) c.3465T>C (p.Tyr1155=) c.3534T>C (p.Tyr1178=) c.3519T>C (p.Tyr1173=) c.3498T>C (p.Tyr1166=) c.3492T>C (p.Tyr1164=) c.3447T>C (p.Tyr1149=) c.3438T>C (p.Tyr1146=) c.3414T>C (p.Tyr1138=) c.3408T>C (p.Tyr1136=) c.3381T>C (p.Tyr1127=) c.3375T>C (p.Tyr1125=) c.3369T>C (p.Tyr1123=) c.3330T>C (p.Tyr1110=) c.3318T>C (p.Tyr1106=) c.3261T>C (p.Tyr1087=) c.3237T>C (p.Tyr1079=) c.3231T>C (p.Tyr1077=) c.3213T>C (p.Tyr1071=) c.3159T>C (p.Tyr1053=) c.3122T>C (p.Met1041Thr) c.2466T>C (p.Tyr822=) c.2379T>C (p.Tyr793=) n.3655T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39727693T>G | CA399312828 | ERBB2 | c.3417T>G (p.Tyr1139Ter) c.3327T>G (p.Tyr1109Ter) c.2589T>G (p.Tyr863Ter) c.3372T>G (p.Tyr1124Ter) c.*3207T>G (n.*3207T>G) c.3164T>G (p.Met1055Arg) n.3741T>G c.3555T>G (p.Tyr1185Ter) c.3510T>G (p.Tyr1170Ter) c.3465T>G (p.Tyr1155Ter) c.3534T>G (p.Tyr1178Ter) c.3519T>G (p.Tyr1173Ter) c.3498T>G (p.Tyr1166Ter) c.3492T>G (p.Tyr1164Ter) c.3447T>G (p.Tyr1149Ter) c.3438T>G (p.Tyr1146Ter) c.3414T>G (p.Tyr1138Ter) c.3408T>G (p.Tyr1136Ter) c.3381T>G (p.Tyr1127Ter) c.3375T>G (p.Tyr1125Ter) c.3369T>G (p.Tyr1123Ter) c.3330T>G (p.Tyr1110Ter) c.3318T>G (p.Tyr1106Ter) c.3261T>G (p.Tyr1087Ter) c.3237T>G (p.Tyr1079Ter) c.3231T>G (p.Tyr1077Ter) c.3213T>G (p.Tyr1071Ter) c.3159T>G (p.Tyr1053Ter) c.3122T>G (p.Met1041Arg) c.2466T>G (p.Tyr822Ter) c.2379T>G (p.Tyr793Ter) n.3655T>G | |
| 17 | g.39727693T= | CA2259229218 | ERBB2 | c.3417T= (p.Tyr1139=) c.3327T= (p.Tyr1109=) c.2589T= (p.Tyr863=) c.3372T= (p.Tyr1124=) c.*3207T= (n.*3207T=) c.3164T= (p.Met1055=) n.3741T= c.3555T= (p.Tyr1185=) c.3510T= (p.Tyr1170=) c.3465T= (p.Tyr1155=) c.3534T= (p.Tyr1178=) c.3519T= (p.Tyr1173=) c.3498T= (p.Tyr1166=) c.3492T= (p.Tyr1164=) c.3447T= (p.Tyr1149=) c.3438T= (p.Tyr1146=) c.3414T= (p.Tyr1138=) c.3408T= (p.Tyr1136=) c.3381T= (p.Tyr1127=) c.3375T= (p.Tyr1125=) c.3369T= (p.Tyr1123=) c.3330T= (p.Tyr1110=) c.3318T= (p.Tyr1106=) c.3261T= (p.Tyr1087=) c.3237T= (p.Tyr1079=) c.3231T= (p.Tyr1077=) c.3213T= (p.Tyr1071=) c.3159T= (p.Tyr1053=) c.3122T= (p.Met1041=) c.2466T= (p.Tyr822=) c.2379T= (p.Tyr793=) n.3655T= | |
| 17 | g.39727694G>A | CA8534558 | ERBB2 | c.3418G>A (p.Val1140Met) c.3328G>A (p.Val1110Met) c.2590G>A (p.Val864Met) c.3373G>A (p.Val1125Met) c.*3208G>A (n.*3208G>A) c.3165G>A (p.Met1055Ile) n.3742G>A c.3556G>A (p.Val1186Met) c.3511G>A (p.Val1171Met) c.3466G>A (p.Val1156Met) c.3535G>A (p.Val1179Met) c.3520G>A (p.Val1174Met) c.3499G>A (p.Val1167Met) c.3493G>A (p.Val1165Met) c.3448G>A (p.Val1150Met) c.3439G>A (p.Val1147Met) c.3415G>A (p.Val1139Met) c.3409G>A (p.Val1137Met) c.3382G>A (p.Val1128Met) c.3376G>A (p.Val1126Met) c.3370G>A (p.Val1124Met) c.3331G>A (p.Val1111Met) c.3319G>A (p.Val1107Met) c.3262G>A (p.Val1088Met) c.3238G>A (p.Val1080Met) c.3232G>A (p.Val1078Met) c.3214G>A (p.Val1072Met) c.3160G>A (p.Val1054Met) c.3123G>A (p.Met1041Ile) c.2467G>A (p.Val823Met) c.2380G>A (p.Val794Met) n.3656G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39727694G>C | CA399312829 | ERBB2 | c.3418G>C (p.Val1140Leu) c.3328G>C (p.Val1110Leu) c.2590G>C (p.Val864Leu) c.3373G>C (p.Val1125Leu) c.*3208G>C (n.*3208G>C) c.3165G>C (p.Met1055Ile) n.3742G>C c.3556G>C (p.Val1186Leu) c.3511G>C (p.Val1171Leu) c.3466G>C (p.Val1156Leu) c.3535G>C (p.Val1179Leu) c.3520G>C (p.Val1174Leu) c.3499G>C (p.Val1167Leu) c.3493G>C (p.Val1165Leu) c.3448G>C (p.Val1150Leu) c.3439G>C (p.Val1147Leu) c.3415G>C (p.Val1139Leu) c.3409G>C (p.Val1137Leu) c.3382G>C (p.Val1128Leu) c.3376G>C (p.Val1126Leu) c.3370G>C (p.Val1124Leu) c.3331G>C (p.Val1111Leu) c.3319G>C (p.Val1107Leu) c.3262G>C (p.Val1088Leu) c.3238G>C (p.Val1080Leu) c.3232G>C (p.Val1078Leu) c.3214G>C (p.Val1072Leu) c.3160G>C (p.Val1054Leu) c.3123G>C (p.Met1041Ile) c.2467G>C (p.Val823Leu) c.2380G>C (p.Val794Leu) n.3656G>C | dbSNP |
| 17 | g.39727694G= | CA2259229219 | ERBB2 | c.3418G= (p.Val1140=) c.3328G= (p.Val1110=) c.2590G= (p.Val864=) c.3373G= (p.Val1125=) c.*3208G= (n.*3208G=) c.3165G= (p.Met1055=) n.3742G= c.3556G= (p.Val1186=) c.3511G= (p.Val1171=) c.3466G= (p.Val1156=) c.3535G= (p.Val1179=) c.3520G= (p.Val1174=) c.3499G= (p.Val1167=) c.3493G= (p.Val1165=) c.3448G= (p.Val1150=) c.3439G= (p.Val1147=) c.3415G= (p.Val1139=) c.3409G= (p.Val1137=) c.3382G= (p.Val1128=) c.3376G= (p.Val1126=) c.3370G= (p.Val1124=) c.3331G= (p.Val1111=) c.3319G= (p.Val1107=) c.3262G= (p.Val1088=) c.3238G= (p.Val1080=) c.3232G= (p.Val1078=) c.3214G= (p.Val1072=) c.3160G= (p.Val1054=) c.3123G= (p.Met1041=) c.2467G= (p.Val823=) c.2380G= (p.Val794=) n.3656G= | |
| 17 | g.39727694G>T | CA399312830 | ERBB2 | c.3418G>T (p.Val1140Leu) c.3328G>T (p.Val1110Leu) c.2590G>T (p.Val864Leu) c.3373G>T (p.Val1125Leu) c.*3208G>T (n.*3208G>T) c.3165G>T (p.Met1055Ile) n.3742G>T c.3556G>T (p.Val1186Leu) c.3511G>T (p.Val1171Leu) c.3466G>T (p.Val1156Leu) c.3535G>T (p.Val1179Leu) c.3520G>T (p.Val1174Leu) c.3499G>T (p.Val1167Leu) c.3493G>T (p.Val1165Leu) c.3448G>T (p.Val1150Leu) c.3439G>T (p.Val1147Leu) c.3415G>T (p.Val1139Leu) c.3409G>T (p.Val1137Leu) c.3382G>T (p.Val1128Leu) c.3376G>T (p.Val1126Leu) c.3370G>T (p.Val1124Leu) c.3331G>T (p.Val1111Leu) c.3319G>T (p.Val1107Leu) c.3262G>T (p.Val1088Leu) c.3238G>T (p.Val1080Leu) c.3232G>T (p.Val1078Leu) c.3214G>T (p.Val1072Leu) c.3160G>T (p.Val1054Leu) c.3123G>T (p.Met1041Ile) c.2467G>T (p.Val823Leu) c.2380G>T (p.Val794Leu) n.3656G>T | dbSNP |
| 17 | g.39727695T>A | CA399312831 | ERBB2 | c.3419T>A (p.Val1140Glu) c.3329T>A (p.Val1110Glu) c.2591T>A (p.Val864Glu) c.3374T>A (p.Val1125Glu) c.*3209T>A (n.*3209T>A) c.3166T>A (p.Ter1056Arg) n.3743T>A c.3557T>A (p.Val1186Glu) c.3512T>A (p.Val1171Glu) c.3467T>A (p.Val1156Glu) c.3536T>A (p.Val1179Glu) c.3521T>A (p.Val1174Glu) c.3500T>A (p.Val1167Glu) c.3494T>A (p.Val1165Glu) c.3449T>A (p.Val1150Glu) c.3440T>A (p.Val1147Glu) c.3416T>A (p.Val1139Glu) c.3410T>A (p.Val1137Glu) c.3383T>A (p.Val1128Glu) c.3377T>A (p.Val1126Glu) c.3371T>A (p.Val1124Glu) c.3332T>A (p.Val1111Glu) c.3320T>A (p.Val1107Glu) c.3263T>A (p.Val1088Glu) c.3239T>A (p.Val1080Glu) c.3233T>A (p.Val1078Glu) c.3215T>A (p.Val1072Glu) c.3161T>A (p.Val1054Glu) c.3124T>A (p.Ter1042Arg) c.2468T>A (p.Val823Glu) c.2381T>A (p.Val794Glu) n.3657T>A | dbSNP |
| 17 | g.39727695T>C | CA399312832 | ERBB2 | c.3419T>C (p.Val1140Ala) c.3329T>C (p.Val1110Ala) c.2591T>C (p.Val864Ala) c.3374T>C (p.Val1125Ala) c.*3209T>C (n.*3209T>C) c.3166T>C (p.Ter1056Arg) n.3743T>C c.3557T>C (p.Val1186Ala) c.3512T>C (p.Val1171Ala) c.3467T>C (p.Val1156Ala) c.3536T>C (p.Val1179Ala) c.3521T>C (p.Val1174Ala) c.3500T>C (p.Val1167Ala) c.3494T>C (p.Val1165Ala) c.3449T>C (p.Val1150Ala) c.3440T>C (p.Val1147Ala) c.3416T>C (p.Val1139Ala) c.3410T>C (p.Val1137Ala) c.3383T>C (p.Val1128Ala) c.3377T>C (p.Val1126Ala) c.3371T>C (p.Val1124Ala) c.3332T>C (p.Val1111Ala) c.3320T>C (p.Val1107Ala) c.3263T>C (p.Val1088Ala) c.3239T>C (p.Val1080Ala) c.3233T>C (p.Val1078Ala) c.3215T>C (p.Val1072Ala) c.3161T>C (p.Val1054Ala) c.3124T>C (p.Ter1042Arg) c.2468T>C (p.Val823Ala) c.2381T>C (p.Val794Ala) n.3657T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39727695T>G | CA399312833 | ERBB2 | c.3419T>G (p.Val1140Gly) c.3329T>G (p.Val1110Gly) c.2591T>G (p.Val864Gly) c.3374T>G (p.Val1125Gly) c.*3209T>G (n.*3209T>G) c.3166T>G (p.Ter1056Gly) n.3743T>G c.3557T>G (p.Val1186Gly) c.3512T>G (p.Val1171Gly) c.3467T>G (p.Val1156Gly) c.3536T>G (p.Val1179Gly) c.3521T>G (p.Val1174Gly) c.3500T>G (p.Val1167Gly) c.3494T>G (p.Val1165Gly) c.3449T>G (p.Val1150Gly) c.3440T>G (p.Val1147Gly) c.3416T>G (p.Val1139Gly) c.3410T>G (p.Val1137Gly) c.3383T>G (p.Val1128Gly) c.3377T>G (p.Val1126Gly) c.3371T>G (p.Val1124Gly) c.3332T>G (p.Val1111Gly) c.3320T>G (p.Val1107Gly) c.3263T>G (p.Val1088Gly) c.3239T>G (p.Val1080Gly) c.3233T>G (p.Val1078Gly) c.3215T>G (p.Val1072Gly) c.3161T>G (p.Val1054Gly) c.3124T>G (p.Ter1042Gly) c.2468T>G (p.Val823Gly) c.2381T>G (p.Val794Gly) n.3657T>G | |
| 17 | g.39727695T= | CA2259229220 | ERBB2 | c.3419T= (p.Val1140=) c.3329T= (p.Val1110=) c.2591T= (p.Val864=) c.3374T= (p.Val1125=) c.*3209T= (n.*3209T=) c.3166T= (p.Ter1056=) n.3743T= c.3557T= (p.Val1186=) c.3512T= (p.Val1171=) c.3467T= (p.Val1156=) c.3536T= (p.Val1179=) c.3521T= (p.Val1174=) c.3500T= (p.Val1167=) c.3494T= (p.Val1165=) c.3449T= (p.Val1150=) c.3440T= (p.Val1147=) c.3416T= (p.Val1139=) c.3410T= (p.Val1137=) c.3383T= (p.Val1128=) c.3377T= (p.Val1126=) c.3371T= (p.Val1124=) c.3332T= (p.Val1111=) c.3320T= (p.Val1107=) c.3263T= (p.Val1088=) c.3239T= (p.Val1080=) c.3233T= (p.Val1078=) c.3215T= (p.Val1072=) c.3161T= (p.Val1054=) c.3124T= (p.Ter1042=) c.2468T= (p.Val823=) c.2381T= (p.Val794=) n.3657T= | |
| 17 | g.39727696G>A | CA499890307 | ERBB2 | c.3420G>A (p.Val1140=) c.3330G>A (p.Val1110=) c.2592G>A (p.Val864=) c.3375G>A (p.Val1125=) c.*3210G>A (n.*3210G>A) c.3167G>A (p.Ter1056=) n.3744G>A c.3558G>A (p.Val1186=) c.3513G>A (p.Val1171=) c.3468G>A (p.Val1156=) c.3537G>A (p.Val1179=) c.3522G>A (p.Val1174=) c.3501G>A (p.Val1167=) c.3495G>A (p.Val1165=) c.3450G>A (p.Val1150=) c.3441G>A (p.Val1147=) c.3417G>A (p.Val1139=) c.3411G>A (p.Val1137=) c.3384G>A (p.Val1128=) c.3378G>A (p.Val1126=) c.3372G>A (p.Val1124=) c.3333G>A (p.Val1111=) c.3321G>A (p.Val1107=) c.3264G>A (p.Val1088=) c.3240G>A (p.Val1080=) c.3234G>A (p.Val1078=) c.3216G>A (p.Val1072=) c.3162G>A (p.Val1054=) c.3125G>A (p.Ter1042=) c.2469G>A (p.Val823=) c.2382G>A (p.Val794=) n.3658G>A | gnomAD v4 |
| 17 | g.39727696G>C | CA399312834 | ERBB2 | c.3420G>C (p.Val1140=) c.3330G>C (p.Val1110=) c.2592G>C (p.Val864=) c.3375G>C (p.Val1125=) c.*3210G>C (n.*3210G>C) c.3167G>C (p.Ter1056Ser) n.3744G>C c.3558G>C (p.Val1186=) c.3513G>C (p.Val1171=) c.3468G>C (p.Val1156=) c.3537G>C (p.Val1179=) c.3522G>C (p.Val1174=) c.3501G>C (p.Val1167=) c.3495G>C (p.Val1165=) c.3450G>C (p.Val1150=) c.3441G>C (p.Val1147=) c.3417G>C (p.Val1139=) c.3411G>C (p.Val1137=) c.3384G>C (p.Val1128=) c.3378G>C (p.Val1126=) c.3372G>C (p.Val1124=) c.3333G>C (p.Val1111=) c.3321G>C (p.Val1107=) c.3264G>C (p.Val1088=) c.3240G>C (p.Val1080=) c.3234G>C (p.Val1078=) c.3216G>C (p.Val1072=) c.3162G>C (p.Val1054=) c.3125G>C (p.Ter1042Ser) c.2469G>C (p.Val823=) c.2382G>C (p.Val794=) n.3658G>C | dbSNP |
| 17 | g.39727696G>T | CA399312835 | ERBB2 | c.3420G>T (p.Val1140=) c.3330G>T (p.Val1110=) c.2592G>T (p.Val864=) c.3375G>T (p.Val1125=) c.*3210G>T (n.*3210G>T) c.3167G>T (p.Ter1056Leu) n.3744G>T c.3558G>T (p.Val1186=) c.3513G>T (p.Val1171=) c.3468G>T (p.Val1156=) c.3537G>T (p.Val1179=) c.3522G>T (p.Val1174=) c.3501G>T (p.Val1167=) c.3495G>T (p.Val1165=) c.3450G>T (p.Val1150=) c.3441G>T (p.Val1147=) c.3417G>T (p.Val1139=) c.3411G>T (p.Val1137=) c.3384G>T (p.Val1128=) c.3378G>T (p.Val1126=) c.3372G>T (p.Val1124=) c.3333G>T (p.Val1111=) c.3321G>T (p.Val1107=) c.3264G>T (p.Val1088=) c.3240G>T (p.Val1080=) c.3234G>T (p.Val1078=) c.3216G>T (p.Val1072=) c.3162G>T (p.Val1054=) c.3125G>T (p.Ter1042Leu) c.2469G>T (p.Val823=) c.2382G>T (p.Val794=) n.3658G>T | |
| 17 | g.39727697A>C | CA399312838 | ERBB2 | c.3421A>C (p.Asn1141His) c.3331A>C (p.Asn1111His) c.2593A>C (p.Asn865His) c.3376A>C (p.Asn1126His) c.*3211A>C (n.*3211A>C) c.3168A>C (p.Ter1056Cys) n.3745A>C c.3559A>C (p.Asn1187His) c.3514A>C (p.Asn1172His) c.3469A>C (p.Asn1157His) c.3538A>C (p.Asn1180His) c.3523A>C (p.Asn1175His) c.3502A>C (p.Asn1168His) c.3496A>C (p.Asn1166His) c.3451A>C (p.Asn1151His) c.3442A>C (p.Asn1148His) c.3418A>C (p.Asn1140His) c.3412A>C (p.Asn1138His) c.3385A>C (p.Asn1129His) c.3379A>C (p.Asn1127His) c.3373A>C (p.Asn1125His) c.3334A>C (p.Asn1112His) c.3322A>C (p.Asn1108His) c.3265A>C (p.Asn1089His) c.3241A>C (p.Asn1081His) c.3235A>C (p.Asn1079His) c.3217A>C (p.Asn1073His) c.3163A>C (p.Asn1055His) c.3126A>C (p.Ter1042Cys) c.2470A>C (p.Asn824His) c.2383A>C (p.Asn795His) n.3659A>C | dbSNP |
| 17 | g.39727697A>G | CA399312836 | ERBB2 | c.3421A>G (p.Asn1141Asp) c.3331A>G (p.Asn1111Asp) c.2593A>G (p.Asn865Asp) c.3376A>G (p.Asn1126Asp) c.*3211A>G (n.*3211A>G) c.3168A>G (p.Ter1056Trp) n.3745A>G c.3559A>G (p.Asn1187Asp) c.3514A>G (p.Asn1172Asp) c.3469A>G (p.Asn1157Asp) c.3538A>G (p.Asn1180Asp) c.3523A>G (p.Asn1175Asp) c.3502A>G (p.Asn1168Asp) c.3496A>G (p.Asn1166Asp) c.3451A>G (p.Asn1151Asp) c.3442A>G (p.Asn1148Asp) c.3418A>G (p.Asn1140Asp) c.3412A>G (p.Asn1138Asp) c.3385A>G (p.Asn1129Asp) c.3379A>G (p.Asn1127Asp) c.3373A>G (p.Asn1125Asp) c.3334A>G (p.Asn1112Asp) c.3322A>G (p.Asn1108Asp) c.3265A>G (p.Asn1089Asp) c.3241A>G (p.Asn1081Asp) c.3235A>G (p.Asn1079Asp) c.3217A>G (p.Asn1073Asp) c.3163A>G (p.Asn1055Asp) c.3126A>G (p.Ter1042Trp) c.2470A>G (p.Asn824Asp) c.2383A>G (p.Asn795Asp) n.3659A>G | dbSNP gnomAD v4 |
| 17 | g.39727697A>T | CA399312837 | ERBB2 | c.3421A>T (p.Asn1141Tyr) c.3331A>T (p.Asn1111Tyr) c.2593A>T (p.Asn865Tyr) c.3376A>T (p.Asn1126Tyr) c.*3211A>T (n.*3211A>T) c.3168A>T (p.Ter1056Cys) n.3745A>T c.3559A>T (p.Asn1187Tyr) c.3514A>T (p.Asn1172Tyr) c.3469A>T (p.Asn1157Tyr) c.3538A>T (p.Asn1180Tyr) c.3523A>T (p.Asn1175Tyr) c.3502A>T (p.Asn1168Tyr) c.3496A>T (p.Asn1166Tyr) c.3451A>T (p.Asn1151Tyr) c.3442A>T (p.Asn1148Tyr) c.3418A>T (p.Asn1140Tyr) c.3412A>T (p.Asn1138Tyr) c.3385A>T (p.Asn1129Tyr) c.3379A>T (p.Asn1127Tyr) c.3373A>T (p.Asn1125Tyr) c.3334A>T (p.Asn1112Tyr) c.3322A>T (p.Asn1108Tyr) c.3265A>T (p.Asn1089Tyr) c.3241A>T (p.Asn1081Tyr) c.3235A>T (p.Asn1079Tyr) c.3217A>T (p.Asn1073Tyr) c.3163A>T (p.Asn1055Tyr) c.3126A>T (p.Ter1042Cys) c.2470A>T (p.Asn824Tyr) c.2383A>T (p.Asn795Tyr) n.3659A>T | dbSNP |
| 17 | g.39727698A>C | CA399312839 | ERBB2 | c.3422A>C (p.Asn1141Thr) c.3332A>C (p.Asn1111Thr) c.2594A>C (p.Asn865Thr) c.3377A>C (p.Asn1126Thr) c.*3212A>C (n.*3212A>C) c.*1A>C (n.*1A>C) n.3746A>C c.3560A>C (p.Asn1187Thr) c.3515A>C (p.Asn1172Thr) c.3470A>C (p.Asn1157Thr) c.3539A>C (p.Asn1180Thr) c.3524A>C (p.Asn1175Thr) c.3503A>C (p.Asn1168Thr) c.3497A>C (p.Asn1166Thr) c.3452A>C (p.Asn1151Thr) c.3443A>C (p.Asn1148Thr) c.3419A>C (p.Asn1140Thr) c.3413A>C (p.Asn1138Thr) c.3386A>C (p.Asn1129Thr) c.3380A>C (p.Asn1127Thr) c.3374A>C (p.Asn1125Thr) c.3335A>C (p.Asn1112Thr) c.3323A>C (p.Asn1108Thr) c.3266A>C (p.Asn1089Thr) c.3242A>C (p.Asn1081Thr) c.3236A>C (p.Asn1079Thr) c.3218A>C (p.Asn1073Thr) c.3164A>C (p.Asn1055Thr) c.2471A>C (p.Asn824Thr) c.2384A>C (p.Asn795Thr) n.3660A>C | |
| 17 | g.39727698A>G | CA399312840 | ERBB2 | c.3422A>G (p.Asn1141Ser) c.3332A>G (p.Asn1111Ser) c.2594A>G (p.Asn865Ser) c.3377A>G (p.Asn1126Ser) c.*3212A>G (n.*3212A>G) c.*1A>G (n.*1A>G) n.3746A>G c.3560A>G (p.Asn1187Ser) c.3515A>G (p.Asn1172Ser) c.3470A>G (p.Asn1157Ser) c.3539A>G (p.Asn1180Ser) c.3524A>G (p.Asn1175Ser) c.3503A>G (p.Asn1168Ser) c.3497A>G (p.Asn1166Ser) c.3452A>G (p.Asn1151Ser) c.3443A>G (p.Asn1148Ser) c.3419A>G (p.Asn1140Ser) c.3413A>G (p.Asn1138Ser) c.3386A>G (p.Asn1129Ser) c.3380A>G (p.Asn1127Ser) c.3374A>G (p.Asn1125Ser) c.3335A>G (p.Asn1112Ser) c.3323A>G (p.Asn1108Ser) c.3266A>G (p.Asn1089Ser) c.3242A>G (p.Asn1081Ser) c.3236A>G (p.Asn1079Ser) c.3218A>G (p.Asn1073Ser) c.3164A>G (p.Asn1055Ser) c.2471A>G (p.Asn824Ser) c.2384A>G (p.Asn795Ser) n.3660A>G | dbSNP |