Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39727669A= | CA2259229205 | ERBB2 | c.3413-20A= (n.3413-20A=) c.3323-20A= (n.3323-20A=) c.2585-20A= (n.2585-20A=) c.3368-20A= (n.3368-20A=) c.*3203-20A= (n.*3203-20A=) c.3160-20A= (n.3160-20A=) n.3737-20A= c.3551-20A= (n.3551-20A=) c.3506-20A= (n.3506-20A=) c.3461-20A= (n.3461-20A=) c.3530-20A= (n.3530-20A=) c.3515-20A= (n.3515-20A=) c.3494-20A= (n.3494-20A=) c.3488-20A= (n.3488-20A=) c.3443-20A= (n.3443-20A=) c.3434-20A= (n.3434-20A=) c.3410-20A= (n.3410-20A=) c.3404-20A= (n.3404-20A=) c.3377-20A= (n.3377-20A=) c.3371-20A= (n.3371-20A=) c.3365-20A= (n.3365-20A=) c.3326-20A= (n.3326-20A=) c.3314-20A= (n.3314-20A=) c.3257-20A= (n.3257-20A=) c.3233-20A= (n.3233-20A=) c.3227-20A= (n.3227-20A=) c.3209-20A= (n.3209-20A=) c.3155-20A= (n.3155-20A=) c.3118-20A= (n.3118-20A=) c.2462-20A= (n.2462-20A=) c.2375-20A= (n.2375-20A=) n.3651-20A= | |
17 | g.39727669A>C | CA2733264403 | ERBB2 | c.3413-20A>C (n.3413-20A>C) c.3323-20A>C (n.3323-20A>C) c.2585-20A>C (n.2585-20A>C) c.3368-20A>C (n.3368-20A>C) c.*3203-20A>C (n.*3203-20A>C) c.3160-20A>C (n.3160-20A>C) n.3737-20A>C c.3551-20A>C (n.3551-20A>C) c.3506-20A>C (n.3506-20A>C) c.3461-20A>C (n.3461-20A>C) c.3530-20A>C (n.3530-20A>C) c.3515-20A>C (n.3515-20A>C) c.3494-20A>C (n.3494-20A>C) c.3488-20A>C (n.3488-20A>C) c.3443-20A>C (n.3443-20A>C) c.3434-20A>C (n.3434-20A>C) c.3410-20A>C (n.3410-20A>C) c.3404-20A>C (n.3404-20A>C) c.3377-20A>C (n.3377-20A>C) c.3371-20A>C (n.3371-20A>C) c.3365-20A>C (n.3365-20A>C) c.3326-20A>C (n.3326-20A>C) c.3314-20A>C (n.3314-20A>C) c.3257-20A>C (n.3257-20A>C) c.3233-20A>C (n.3233-20A>C) c.3227-20A>C (n.3227-20A>C) c.3209-20A>C (n.3209-20A>C) c.3155-20A>C (n.3155-20A>C) c.3118-20A>C (n.3118-20A>C) c.2462-20A>C (n.2462-20A>C) c.2375-20A>C (n.2375-20A>C) n.3651-20A>C | dbSNP |
17 | g.39727669A>G | CA2259229206 | ERBB2 | c.3413-20A>G (n.3413-20A>G) c.3323-20A>G (n.3323-20A>G) c.2585-20A>G (n.2585-20A>G) c.3368-20A>G (n.3368-20A>G) c.*3203-20A>G (n.*3203-20A>G) c.3160-20A>G (n.3160-20A>G) n.3737-20A>G c.3551-20A>G (n.3551-20A>G) c.3506-20A>G (n.3506-20A>G) c.3461-20A>G (n.3461-20A>G) c.3530-20A>G (n.3530-20A>G) c.3515-20A>G (n.3515-20A>G) c.3494-20A>G (n.3494-20A>G) c.3488-20A>G (n.3488-20A>G) c.3443-20A>G (n.3443-20A>G) c.3434-20A>G (n.3434-20A>G) c.3410-20A>G (n.3410-20A>G) c.3404-20A>G (n.3404-20A>G) c.3377-20A>G (n.3377-20A>G) c.3371-20A>G (n.3371-20A>G) c.3365-20A>G (n.3365-20A>G) c.3326-20A>G (n.3326-20A>G) c.3314-20A>G (n.3314-20A>G) c.3257-20A>G (n.3257-20A>G) c.3233-20A>G (n.3233-20A>G) c.3227-20A>G (n.3227-20A>G) c.3209-20A>G (n.3209-20A>G) c.3155-20A>G (n.3155-20A>G) c.3118-20A>G (n.3118-20A>G) c.2462-20A>G (n.2462-20A>G) c.2375-20A>G (n.2375-20A>G) n.3651-20A>G | dbSNP |
17 | g.39727669A>T | CA2733264404 | ERBB2 | c.3413-20A>T (n.3413-20A>T) c.3323-20A>T (n.3323-20A>T) c.2585-20A>T (n.2585-20A>T) c.3368-20A>T (n.3368-20A>T) c.*3203-20A>T (n.*3203-20A>T) c.3160-20A>T (n.3160-20A>T) n.3737-20A>T c.3551-20A>T (n.3551-20A>T) c.3506-20A>T (n.3506-20A>T) c.3461-20A>T (n.3461-20A>T) c.3530-20A>T (n.3530-20A>T) c.3515-20A>T (n.3515-20A>T) c.3494-20A>T (n.3494-20A>T) c.3488-20A>T (n.3488-20A>T) c.3443-20A>T (n.3443-20A>T) c.3434-20A>T (n.3434-20A>T) c.3410-20A>T (n.3410-20A>T) c.3404-20A>T (n.3404-20A>T) c.3377-20A>T (n.3377-20A>T) c.3371-20A>T (n.3371-20A>T) c.3365-20A>T (n.3365-20A>T) c.3326-20A>T (n.3326-20A>T) c.3314-20A>T (n.3314-20A>T) c.3257-20A>T (n.3257-20A>T) c.3233-20A>T (n.3233-20A>T) c.3227-20A>T (n.3227-20A>T) c.3209-20A>T (n.3209-20A>T) c.3155-20A>T (n.3155-20A>T) c.3118-20A>T (n.3118-20A>T) c.2462-20A>T (n.2462-20A>T) c.2375-20A>T (n.2375-20A>T) n.3651-20A>T | dbSNP |
17 | g.39727669_39727670insG | CA2733497252 | ERBB2 | c.3413-20_3413-19insG (n.3413-20_3413-19insG) c.3323-20_3323-19insG (n.3323-20_3323-19insG) c.2585-20_2585-19insG (n.2585-20_2585-19insG) c.3368-20_3368-19insG (n.3368-20_3368-19insG) c.*3203-20_*3203-19insG (n.*3203-20_*3203-19insG) c.3160-20_3160-19insG (n.3160-20_3160-19insG) n.3737-20_3737-19insG c.3551-20_3551-19insG (n.3551-20_3551-19insG) c.3506-20_3506-19insG (n.3506-20_3506-19insG) c.3461-20_3461-19insG (n.3461-20_3461-19insG) c.3530-20_3530-19insG (n.3530-20_3530-19insG) c.3515-20_3515-19insG (n.3515-20_3515-19insG) c.3494-20_3494-19insG (n.3494-20_3494-19insG) c.3488-20_3488-19insG (n.3488-20_3488-19insG) c.3443-20_3443-19insG (n.3443-20_3443-19insG) c.3434-20_3434-19insG (n.3434-20_3434-19insG) c.3410-20_3410-19insG (n.3410-20_3410-19insG) c.3404-20_3404-19insG (n.3404-20_3404-19insG) c.3377-20_3377-19insG (n.3377-20_3377-19insG) c.3371-20_3371-19insG (n.3371-20_3371-19insG) c.3365-20_3365-19insG (n.3365-20_3365-19insG) c.3326-20_3326-19insG (n.3326-20_3326-19insG) c.3314-20_3314-19insG (n.3314-20_3314-19insG) c.3257-20_3257-19insG (n.3257-20_3257-19insG) c.3233-20_3233-19insG (n.3233-20_3233-19insG) c.3227-20_3227-19insG (n.3227-20_3227-19insG) c.3209-20_3209-19insG (n.3209-20_3209-19insG) c.3155-20_3155-19insG (n.3155-20_3155-19insG) c.3118-20_3118-19insG (n.3118-20_3118-19insG) c.2462-20_2462-19insG (n.2462-20_2462-19insG) c.2375-20_2375-19insG (n.2375-20_2375-19insG) n.3651-20_3651-19insG | dbSNP |
17 | g.39727670C>A | CA2733210266 | ERBB2 | c.3413-19C>A (n.3413-19C>A) c.3323-19C>A (n.3323-19C>A) c.2585-19C>A (n.2585-19C>A) c.3368-19C>A (n.3368-19C>A) c.*3203-19C>A (n.*3203-19C>A) c.3160-19C>A (n.3160-19C>A) n.3737-19C>A c.3551-19C>A (n.3551-19C>A) c.3506-19C>A (n.3506-19C>A) c.3461-19C>A (n.3461-19C>A) c.3530-19C>A (n.3530-19C>A) c.3515-19C>A (n.3515-19C>A) c.3494-19C>A (n.3494-19C>A) c.3488-19C>A (n.3488-19C>A) c.3443-19C>A (n.3443-19C>A) c.3434-19C>A (n.3434-19C>A) c.3410-19C>A (n.3410-19C>A) c.3404-19C>A (n.3404-19C>A) c.3377-19C>A (n.3377-19C>A) c.3371-19C>A (n.3371-19C>A) c.3365-19C>A (n.3365-19C>A) c.3326-19C>A (n.3326-19C>A) c.3314-19C>A (n.3314-19C>A) c.3257-19C>A (n.3257-19C>A) c.3233-19C>A (n.3233-19C>A) c.3227-19C>A (n.3227-19C>A) c.3209-19C>A (n.3209-19C>A) c.3155-19C>A (n.3155-19C>A) c.3118-19C>A (n.3118-19C>A) c.2462-19C>A (n.2462-19C>A) c.2375-19C>A (n.2375-19C>A) n.3651-19C>A | dbSNP |
17 | g.39727670C= | CA2259229207 | ERBB2 | c.3413-19C= (n.3413-19C=) c.3323-19C= (n.3323-19C=) c.2585-19C= (n.2585-19C=) c.3368-19C= (n.3368-19C=) c.*3203-19C= (n.*3203-19C=) c.3160-19C= (n.3160-19C=) n.3737-19C= c.3551-19C= (n.3551-19C=) c.3506-19C= (n.3506-19C=) c.3461-19C= (n.3461-19C=) c.3530-19C= (n.3530-19C=) c.3515-19C= (n.3515-19C=) c.3494-19C= (n.3494-19C=) c.3488-19C= (n.3488-19C=) c.3443-19C= (n.3443-19C=) c.3434-19C= (n.3434-19C=) c.3410-19C= (n.3410-19C=) c.3404-19C= (n.3404-19C=) c.3377-19C= (n.3377-19C=) c.3371-19C= (n.3371-19C=) c.3365-19C= (n.3365-19C=) c.3326-19C= (n.3326-19C=) c.3314-19C= (n.3314-19C=) c.3257-19C= (n.3257-19C=) c.3233-19C= (n.3233-19C=) c.3227-19C= (n.3227-19C=) c.3209-19C= (n.3209-19C=) c.3155-19C= (n.3155-19C=) c.3118-19C= (n.3118-19C=) c.2462-19C= (n.2462-19C=) c.2375-19C= (n.2375-19C=) n.3651-19C= | |
17 | g.39727670C>G | CA2733210265 | ERBB2 | c.3413-19C>G (n.3413-19C>G) c.3323-19C>G (n.3323-19C>G) c.2585-19C>G (n.2585-19C>G) c.3368-19C>G (n.3368-19C>G) c.*3203-19C>G (n.*3203-19C>G) c.3160-19C>G (n.3160-19C>G) n.3737-19C>G c.3551-19C>G (n.3551-19C>G) c.3506-19C>G (n.3506-19C>G) c.3461-19C>G (n.3461-19C>G) c.3530-19C>G (n.3530-19C>G) c.3515-19C>G (n.3515-19C>G) c.3494-19C>G (n.3494-19C>G) c.3488-19C>G (n.3488-19C>G) c.3443-19C>G (n.3443-19C>G) c.3434-19C>G (n.3434-19C>G) c.3410-19C>G (n.3410-19C>G) c.3404-19C>G (n.3404-19C>G) c.3377-19C>G (n.3377-19C>G) c.3371-19C>G (n.3371-19C>G) c.3365-19C>G (n.3365-19C>G) c.3326-19C>G (n.3326-19C>G) c.3314-19C>G (n.3314-19C>G) c.3257-19C>G (n.3257-19C>G) c.3233-19C>G (n.3233-19C>G) c.3227-19C>G (n.3227-19C>G) c.3209-19C>G (n.3209-19C>G) c.3155-19C>G (n.3155-19C>G) c.3118-19C>G (n.3118-19C>G) c.2462-19C>G (n.2462-19C>G) c.2375-19C>G (n.2375-19C>G) n.3651-19C>G | dbSNP |
17 | g.39727670C>T | CA8534553 | ERBB2 | c.3413-19C>T (n.3413-19C>T) c.3323-19C>T (n.3323-19C>T) c.2585-19C>T (n.2585-19C>T) c.3368-19C>T (n.3368-19C>T) c.*3203-19C>T (n.*3203-19C>T) c.3160-19C>T (n.3160-19C>T) n.3737-19C>T c.3551-19C>T (n.3551-19C>T) c.3506-19C>T (n.3506-19C>T) c.3461-19C>T (n.3461-19C>T) c.3530-19C>T (n.3530-19C>T) c.3515-19C>T (n.3515-19C>T) c.3494-19C>T (n.3494-19C>T) c.3488-19C>T (n.3488-19C>T) c.3443-19C>T (n.3443-19C>T) c.3434-19C>T (n.3434-19C>T) c.3410-19C>T (n.3410-19C>T) c.3404-19C>T (n.3404-19C>T) c.3377-19C>T (n.3377-19C>T) c.3371-19C>T (n.3371-19C>T) c.3365-19C>T (n.3365-19C>T) c.3326-19C>T (n.3326-19C>T) c.3314-19C>T (n.3314-19C>T) c.3257-19C>T (n.3257-19C>T) c.3233-19C>T (n.3233-19C>T) c.3227-19C>T (n.3227-19C>T) c.3209-19C>T (n.3209-19C>T) c.3155-19C>T (n.3155-19C>T) c.3118-19C>T (n.3118-19C>T) c.2462-19C>T (n.2462-19C>T) c.2375-19C>T (n.2375-19C>T) n.3651-19C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727671C= | CA2259229208 | ERBB2 | c.3413-18C= (n.3413-18C=) c.3323-18C= (n.3323-18C=) c.2585-18C= (n.2585-18C=) c.3368-18C= (n.3368-18C=) c.*3203-18C= (n.*3203-18C=) c.3160-18C= (n.3160-18C=) n.3737-18C= c.3551-18C= (n.3551-18C=) c.3506-18C= (n.3506-18C=) c.3461-18C= (n.3461-18C=) c.3530-18C= (n.3530-18C=) c.3515-18C= (n.3515-18C=) c.3494-18C= (n.3494-18C=) c.3488-18C= (n.3488-18C=) c.3443-18C= (n.3443-18C=) c.3434-18C= (n.3434-18C=) c.3410-18C= (n.3410-18C=) c.3404-18C= (n.3404-18C=) c.3377-18C= (n.3377-18C=) c.3371-18C= (n.3371-18C=) c.3365-18C= (n.3365-18C=) c.3326-18C= (n.3326-18C=) c.3314-18C= (n.3314-18C=) c.3257-18C= (n.3257-18C=) c.3233-18C= (n.3233-18C=) c.3227-18C= (n.3227-18C=) c.3209-18C= (n.3209-18C=) c.3155-18C= (n.3155-18C=) c.3118-18C= (n.3118-18C=) c.2462-18C= (n.2462-18C=) c.2375-18C= (n.2375-18C=) n.3651-18C= | |
17 | g.39727671C>G | CA2733207345 | ERBB2 | c.3413-18C>G (n.3413-18C>G) c.3323-18C>G (n.3323-18C>G) c.2585-18C>G (n.2585-18C>G) c.3368-18C>G (n.3368-18C>G) c.*3203-18C>G (n.*3203-18C>G) c.3160-18C>G (n.3160-18C>G) n.3737-18C>G c.3551-18C>G (n.3551-18C>G) c.3506-18C>G (n.3506-18C>G) c.3461-18C>G (n.3461-18C>G) c.3530-18C>G (n.3530-18C>G) c.3515-18C>G (n.3515-18C>G) c.3494-18C>G (n.3494-18C>G) c.3488-18C>G (n.3488-18C>G) c.3443-18C>G (n.3443-18C>G) c.3434-18C>G (n.3434-18C>G) c.3410-18C>G (n.3410-18C>G) c.3404-18C>G (n.3404-18C>G) c.3377-18C>G (n.3377-18C>G) c.3371-18C>G (n.3371-18C>G) c.3365-18C>G (n.3365-18C>G) c.3326-18C>G (n.3326-18C>G) c.3314-18C>G (n.3314-18C>G) c.3257-18C>G (n.3257-18C>G) c.3233-18C>G (n.3233-18C>G) c.3227-18C>G (n.3227-18C>G) c.3209-18C>G (n.3209-18C>G) c.3155-18C>G (n.3155-18C>G) c.3118-18C>G (n.3118-18C>G) c.2462-18C>G (n.2462-18C>G) c.2375-18C>G (n.2375-18C>G) n.3651-18C>G | dbSNP |
17 | g.39727671C>T | CA8534554 | ERBB2 | c.3413-18C>T (n.3413-18C>T) c.3323-18C>T (n.3323-18C>T) c.2585-18C>T (n.2585-18C>T) c.3368-18C>T (n.3368-18C>T) c.*3203-18C>T (n.*3203-18C>T) c.3160-18C>T (n.3160-18C>T) n.3737-18C>T c.3551-18C>T (n.3551-18C>T) c.3506-18C>T (n.3506-18C>T) c.3461-18C>T (n.3461-18C>T) c.3530-18C>T (n.3530-18C>T) c.3515-18C>T (n.3515-18C>T) c.3494-18C>T (n.3494-18C>T) c.3488-18C>T (n.3488-18C>T) c.3443-18C>T (n.3443-18C>T) c.3434-18C>T (n.3434-18C>T) c.3410-18C>T (n.3410-18C>T) c.3404-18C>T (n.3404-18C>T) c.3377-18C>T (n.3377-18C>T) c.3371-18C>T (n.3371-18C>T) c.3365-18C>T (n.3365-18C>T) c.3326-18C>T (n.3326-18C>T) c.3314-18C>T (n.3314-18C>T) c.3257-18C>T (n.3257-18C>T) c.3233-18C>T (n.3233-18C>T) c.3227-18C>T (n.3227-18C>T) c.3209-18C>T (n.3209-18C>T) c.3155-18C>T (n.3155-18C>T) c.3118-18C>T (n.3118-18C>T) c.2462-18C>T (n.2462-18C>T) c.2375-18C>T (n.2375-18C>T) n.3651-18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727672T>A | CA2733248634 | ERBB2 | c.3413-17T>A (n.3413-17T>A) c.3323-17T>A (n.3323-17T>A) c.2585-17T>A (n.2585-17T>A) c.3368-17T>A (n.3368-17T>A) c.*3203-17T>A (n.*3203-17T>A) c.3160-17T>A (n.3160-17T>A) n.3737-17T>A c.3551-17T>A (n.3551-17T>A) c.3506-17T>A (n.3506-17T>A) c.3461-17T>A (n.3461-17T>A) c.3530-17T>A (n.3530-17T>A) c.3515-17T>A (n.3515-17T>A) c.3494-17T>A (n.3494-17T>A) c.3488-17T>A (n.3488-17T>A) c.3443-17T>A (n.3443-17T>A) c.3434-17T>A (n.3434-17T>A) c.3410-17T>A (n.3410-17T>A) c.3404-17T>A (n.3404-17T>A) c.3377-17T>A (n.3377-17T>A) c.3371-17T>A (n.3371-17T>A) c.3365-17T>A (n.3365-17T>A) c.3326-17T>A (n.3326-17T>A) c.3314-17T>A (n.3314-17T>A) c.3257-17T>A (n.3257-17T>A) c.3233-17T>A (n.3233-17T>A) c.3227-17T>A (n.3227-17T>A) c.3209-17T>A (n.3209-17T>A) c.3155-17T>A (n.3155-17T>A) c.3118-17T>A (n.3118-17T>A) c.2462-17T>A (n.2462-17T>A) c.2375-17T>A (n.2375-17T>A) n.3651-17T>A | dbSNP |
17 | g.39727672T>C | CA626209388 | ERBB2 | c.3413-17T>C (n.3413-17T>C) c.3323-17T>C (n.3323-17T>C) c.2585-17T>C (n.2585-17T>C) c.3368-17T>C (n.3368-17T>C) c.*3203-17T>C (n.*3203-17T>C) c.3160-17T>C (n.3160-17T>C) n.3737-17T>C c.3551-17T>C (n.3551-17T>C) c.3506-17T>C (n.3506-17T>C) c.3461-17T>C (n.3461-17T>C) c.3530-17T>C (n.3530-17T>C) c.3515-17T>C (n.3515-17T>C) c.3494-17T>C (n.3494-17T>C) c.3488-17T>C (n.3488-17T>C) c.3443-17T>C (n.3443-17T>C) c.3434-17T>C (n.3434-17T>C) c.3410-17T>C (n.3410-17T>C) c.3404-17T>C (n.3404-17T>C) c.3377-17T>C (n.3377-17T>C) c.3371-17T>C (n.3371-17T>C) c.3365-17T>C (n.3365-17T>C) c.3326-17T>C (n.3326-17T>C) c.3314-17T>C (n.3314-17T>C) c.3257-17T>C (n.3257-17T>C) c.3233-17T>C (n.3233-17T>C) c.3227-17T>C (n.3227-17T>C) c.3209-17T>C (n.3209-17T>C) c.3155-17T>C (n.3155-17T>C) c.3118-17T>C (n.3118-17T>C) c.2462-17T>C (n.2462-17T>C) c.2375-17T>C (n.2375-17T>C) n.3651-17T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727672T>G | CA2733248633 | ERBB2 | c.3413-17T>G (n.3413-17T>G) c.3323-17T>G (n.3323-17T>G) c.2585-17T>G (n.2585-17T>G) c.3368-17T>G (n.3368-17T>G) c.*3203-17T>G (n.*3203-17T>G) c.3160-17T>G (n.3160-17T>G) n.3737-17T>G c.3551-17T>G (n.3551-17T>G) c.3506-17T>G (n.3506-17T>G) c.3461-17T>G (n.3461-17T>G) c.3530-17T>G (n.3530-17T>G) c.3515-17T>G (n.3515-17T>G) c.3494-17T>G (n.3494-17T>G) c.3488-17T>G (n.3488-17T>G) c.3443-17T>G (n.3443-17T>G) c.3434-17T>G (n.3434-17T>G) c.3410-17T>G (n.3410-17T>G) c.3404-17T>G (n.3404-17T>G) c.3377-17T>G (n.3377-17T>G) c.3371-17T>G (n.3371-17T>G) c.3365-17T>G (n.3365-17T>G) c.3326-17T>G (n.3326-17T>G) c.3314-17T>G (n.3314-17T>G) c.3257-17T>G (n.3257-17T>G) c.3233-17T>G (n.3233-17T>G) c.3227-17T>G (n.3227-17T>G) c.3209-17T>G (n.3209-17T>G) c.3155-17T>G (n.3155-17T>G) c.3118-17T>G (n.3118-17T>G) c.2462-17T>G (n.2462-17T>G) c.2375-17T>G (n.2375-17T>G) n.3651-17T>G | dbSNP |
17 | g.39727672T= | CA2259229209 | ERBB2 | c.3413-17T= (n.3413-17T=) c.3323-17T= (n.3323-17T=) c.2585-17T= (n.2585-17T=) c.3368-17T= (n.3368-17T=) c.*3203-17T= (n.*3203-17T=) c.3160-17T= (n.3160-17T=) n.3737-17T= c.3551-17T= (n.3551-17T=) c.3506-17T= (n.3506-17T=) c.3461-17T= (n.3461-17T=) c.3530-17T= (n.3530-17T=) c.3515-17T= (n.3515-17T=) c.3494-17T= (n.3494-17T=) c.3488-17T= (n.3488-17T=) c.3443-17T= (n.3443-17T=) c.3434-17T= (n.3434-17T=) c.3410-17T= (n.3410-17T=) c.3404-17T= (n.3404-17T=) c.3377-17T= (n.3377-17T=) c.3371-17T= (n.3371-17T=) c.3365-17T= (n.3365-17T=) c.3326-17T= (n.3326-17T=) c.3314-17T= (n.3314-17T=) c.3257-17T= (n.3257-17T=) c.3233-17T= (n.3233-17T=) c.3227-17T= (n.3227-17T=) c.3209-17T= (n.3209-17T=) c.3155-17T= (n.3155-17T=) c.3118-17T= (n.3118-17T=) c.2462-17T= (n.2462-17T=) c.2375-17T= (n.2375-17T=) n.3651-17T= | |
17 | g.39727673T>A | CA2733497256 | ERBB2 | c.3413-16T>A (n.3413-16T>A) c.3323-16T>A (n.3323-16T>A) c.2585-16T>A (n.2585-16T>A) c.3368-16T>A (n.3368-16T>A) c.*3203-16T>A (n.*3203-16T>A) c.3160-16T>A (n.3160-16T>A) n.3737-16T>A c.3551-16T>A (n.3551-16T>A) c.3506-16T>A (n.3506-16T>A) c.3461-16T>A (n.3461-16T>A) c.3530-16T>A (n.3530-16T>A) c.3515-16T>A (n.3515-16T>A) c.3494-16T>A (n.3494-16T>A) c.3488-16T>A (n.3488-16T>A) c.3443-16T>A (n.3443-16T>A) c.3434-16T>A (n.3434-16T>A) c.3410-16T>A (n.3410-16T>A) c.3404-16T>A (n.3404-16T>A) c.3377-16T>A (n.3377-16T>A) c.3371-16T>A (n.3371-16T>A) c.3365-16T>A (n.3365-16T>A) c.3326-16T>A (n.3326-16T>A) c.3314-16T>A (n.3314-16T>A) c.3257-16T>A (n.3257-16T>A) c.3233-16T>A (n.3233-16T>A) c.3227-16T>A (n.3227-16T>A) c.3209-16T>A (n.3209-16T>A) c.3155-16T>A (n.3155-16T>A) c.3118-16T>A (n.3118-16T>A) c.2462-16T>A (n.2462-16T>A) c.2375-16T>A (n.2375-16T>A) n.3651-16T>A | dbSNP |
17 | g.39727673T>C | CA2733497254 | ERBB2 | c.3413-16T>C (n.3413-16T>C) c.3323-16T>C (n.3323-16T>C) c.2585-16T>C (n.2585-16T>C) c.3368-16T>C (n.3368-16T>C) c.*3203-16T>C (n.*3203-16T>C) c.3160-16T>C (n.3160-16T>C) n.3737-16T>C c.3551-16T>C (n.3551-16T>C) c.3506-16T>C (n.3506-16T>C) c.3461-16T>C (n.3461-16T>C) c.3530-16T>C (n.3530-16T>C) c.3515-16T>C (n.3515-16T>C) c.3494-16T>C (n.3494-16T>C) c.3488-16T>C (n.3488-16T>C) c.3443-16T>C (n.3443-16T>C) c.3434-16T>C (n.3434-16T>C) c.3410-16T>C (n.3410-16T>C) c.3404-16T>C (n.3404-16T>C) c.3377-16T>C (n.3377-16T>C) c.3371-16T>C (n.3371-16T>C) c.3365-16T>C (n.3365-16T>C) c.3326-16T>C (n.3326-16T>C) c.3314-16T>C (n.3314-16T>C) c.3257-16T>C (n.3257-16T>C) c.3233-16T>C (n.3233-16T>C) c.3227-16T>C (n.3227-16T>C) c.3209-16T>C (n.3209-16T>C) c.3155-16T>C (n.3155-16T>C) c.3118-16T>C (n.3118-16T>C) c.2462-16T>C (n.2462-16T>C) c.2375-16T>C (n.2375-16T>C) n.3651-16T>C | dbSNP |
17 | g.39727673T>G | CA2733497253 | ERBB2 | c.3413-16T>G (n.3413-16T>G) c.3323-16T>G (n.3323-16T>G) c.2585-16T>G (n.2585-16T>G) c.3368-16T>G (n.3368-16T>G) c.*3203-16T>G (n.*3203-16T>G) c.3160-16T>G (n.3160-16T>G) n.3737-16T>G c.3551-16T>G (n.3551-16T>G) c.3506-16T>G (n.3506-16T>G) c.3461-16T>G (n.3461-16T>G) c.3530-16T>G (n.3530-16T>G) c.3515-16T>G (n.3515-16T>G) c.3494-16T>G (n.3494-16T>G) c.3488-16T>G (n.3488-16T>G) c.3443-16T>G (n.3443-16T>G) c.3434-16T>G (n.3434-16T>G) c.3410-16T>G (n.3410-16T>G) c.3404-16T>G (n.3404-16T>G) c.3377-16T>G (n.3377-16T>G) c.3371-16T>G (n.3371-16T>G) c.3365-16T>G (n.3365-16T>G) c.3326-16T>G (n.3326-16T>G) c.3314-16T>G (n.3314-16T>G) c.3257-16T>G (n.3257-16T>G) c.3233-16T>G (n.3233-16T>G) c.3227-16T>G (n.3227-16T>G) c.3209-16T>G (n.3209-16T>G) c.3155-16T>G (n.3155-16T>G) c.3118-16T>G (n.3118-16T>G) c.2462-16T>G (n.2462-16T>G) c.2375-16T>G (n.2375-16T>G) n.3651-16T>G | dbSNP |
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.39727675T>A | CA2733497257 | ERBB2 | c.3413-14T>A (n.3413-14T>A) c.3323-14T>A (n.3323-14T>A) c.2585-14T>A (n.2585-14T>A) c.3368-14T>A (n.3368-14T>A) c.*3203-14T>A (n.*3203-14T>A) c.3160-14T>A (n.3160-14T>A) n.3737-14T>A c.3551-14T>A (n.3551-14T>A) c.3506-14T>A (n.3506-14T>A) c.3461-14T>A (n.3461-14T>A) c.3530-14T>A (n.3530-14T>A) c.3515-14T>A (n.3515-14T>A) c.3494-14T>A (n.3494-14T>A) c.3488-14T>A (n.3488-14T>A) c.3443-14T>A (n.3443-14T>A) c.3434-14T>A (n.3434-14T>A) c.3410-14T>A (n.3410-14T>A) c.3404-14T>A (n.3404-14T>A) c.3377-14T>A (n.3377-14T>A) c.3371-14T>A (n.3371-14T>A) c.3365-14T>A (n.3365-14T>A) c.3326-14T>A (n.3326-14T>A) c.3314-14T>A (n.3314-14T>A) c.3257-14T>A (n.3257-14T>A) c.3233-14T>A (n.3233-14T>A) c.3227-14T>A (n.3227-14T>A) c.3209-14T>A (n.3209-14T>A) c.3155-14T>A (n.3155-14T>A) c.3118-14T>A (n.3118-14T>A) c.2462-14T>A (n.2462-14T>A) c.2375-14T>A (n.2375-14T>A) n.3651-14T>A | dbSNP |
17 | g.39727675T>C | CA2637629509 | ERBB2 | c.3413-14T>C (n.3413-14T>C) c.3323-14T>C (n.3323-14T>C) c.2585-14T>C (n.2585-14T>C) c.3368-14T>C (n.3368-14T>C) c.*3203-14T>C (n.*3203-14T>C) c.3160-14T>C (n.3160-14T>C) n.3737-14T>C c.3551-14T>C (n.3551-14T>C) c.3506-14T>C (n.3506-14T>C) c.3461-14T>C (n.3461-14T>C) c.3530-14T>C (n.3530-14T>C) c.3515-14T>C (n.3515-14T>C) c.3494-14T>C (n.3494-14T>C) c.3488-14T>C (n.3488-14T>C) c.3443-14T>C (n.3443-14T>C) c.3434-14T>C (n.3434-14T>C) c.3410-14T>C (n.3410-14T>C) c.3404-14T>C (n.3404-14T>C) c.3377-14T>C (n.3377-14T>C) c.3371-14T>C (n.3371-14T>C) c.3365-14T>C (n.3365-14T>C) c.3326-14T>C (n.3326-14T>C) c.3314-14T>C (n.3314-14T>C) c.3257-14T>C (n.3257-14T>C) c.3233-14T>C (n.3233-14T>C) c.3227-14T>C (n.3227-14T>C) c.3209-14T>C (n.3209-14T>C) c.3155-14T>C (n.3155-14T>C) c.3118-14T>C (n.3118-14T>C) c.2462-14T>C (n.2462-14T>C) c.2375-14T>C (n.2375-14T>C) n.3651-14T>C | dbSNP gnomAD v4 |
17 | g.39727676C>A | CA2637629513 | ERBB2 | c.3413-13C>A (n.3413-13C>A) c.3323-13C>A (n.3323-13C>A) c.2585-13C>A (n.2585-13C>A) c.3368-13C>A (n.3368-13C>A) c.*3203-13C>A (n.*3203-13C>A) c.3160-13C>A (n.3160-13C>A) n.3737-13C>A c.3551-13C>A (n.3551-13C>A) c.3506-13C>A (n.3506-13C>A) c.3461-13C>A (n.3461-13C>A) c.3530-13C>A (n.3530-13C>A) c.3515-13C>A (n.3515-13C>A) c.3494-13C>A (n.3494-13C>A) c.3488-13C>A (n.3488-13C>A) c.3443-13C>A (n.3443-13C>A) c.3434-13C>A (n.3434-13C>A) c.3410-13C>A (n.3410-13C>A) c.3404-13C>A (n.3404-13C>A) c.3377-13C>A (n.3377-13C>A) c.3371-13C>A (n.3371-13C>A) c.3365-13C>A (n.3365-13C>A) c.3326-13C>A (n.3326-13C>A) c.3314-13C>A (n.3314-13C>A) c.3257-13C>A (n.3257-13C>A) c.3233-13C>A (n.3233-13C>A) c.3227-13C>A (n.3227-13C>A) c.3209-13C>A (n.3209-13C>A) c.3155-13C>A (n.3155-13C>A) c.3118-13C>A (n.3118-13C>A) c.2462-13C>A (n.2462-13C>A) c.2375-13C>A (n.2375-13C>A) n.3651-13C>A | gnomAD v4 |
17 | g.39727676C= | CA2259229210 | ERBB2 | c.3413-13C= (n.3413-13C=) c.3323-13C= (n.3323-13C=) c.2585-13C= (n.2585-13C=) c.3368-13C= (n.3368-13C=) c.*3203-13C= (n.*3203-13C=) c.3160-13C= (n.3160-13C=) n.3737-13C= c.3551-13C= (n.3551-13C=) c.3506-13C= (n.3506-13C=) c.3461-13C= (n.3461-13C=) c.3530-13C= (n.3530-13C=) c.3515-13C= (n.3515-13C=) c.3494-13C= (n.3494-13C=) c.3488-13C= (n.3488-13C=) c.3443-13C= (n.3443-13C=) c.3434-13C= (n.3434-13C=) c.3410-13C= (n.3410-13C=) c.3404-13C= (n.3404-13C=) c.3377-13C= (n.3377-13C=) c.3371-13C= (n.3371-13C=) c.3365-13C= (n.3365-13C=) c.3326-13C= (n.3326-13C=) c.3314-13C= (n.3314-13C=) c.3257-13C= (n.3257-13C=) c.3233-13C= (n.3233-13C=) c.3227-13C= (n.3227-13C=) c.3209-13C= (n.3209-13C=) c.3155-13C= (n.3155-13C=) c.3118-13C= (n.3118-13C=) c.2462-13C= (n.2462-13C=) c.2375-13C= (n.2375-13C=) n.3651-13C= | |
17 | g.39727676C>G | CA2733358999 | ERBB2 | c.3413-13C>G (n.3413-13C>G) c.3323-13C>G (n.3323-13C>G) c.2585-13C>G (n.2585-13C>G) c.3368-13C>G (n.3368-13C>G) c.*3203-13C>G (n.*3203-13C>G) c.3160-13C>G (n.3160-13C>G) n.3737-13C>G c.3551-13C>G (n.3551-13C>G) c.3506-13C>G (n.3506-13C>G) c.3461-13C>G (n.3461-13C>G) c.3530-13C>G (n.3530-13C>G) c.3515-13C>G (n.3515-13C>G) c.3494-13C>G (n.3494-13C>G) c.3488-13C>G (n.3488-13C>G) c.3443-13C>G (n.3443-13C>G) c.3434-13C>G (n.3434-13C>G) c.3410-13C>G (n.3410-13C>G) c.3404-13C>G (n.3404-13C>G) c.3377-13C>G (n.3377-13C>G) c.3371-13C>G (n.3371-13C>G) c.3365-13C>G (n.3365-13C>G) c.3326-13C>G (n.3326-13C>G) c.3314-13C>G (n.3314-13C>G) c.3257-13C>G (n.3257-13C>G) c.3233-13C>G (n.3233-13C>G) c.3227-13C>G (n.3227-13C>G) c.3209-13C>G (n.3209-13C>G) c.3155-13C>G (n.3155-13C>G) c.3118-13C>G (n.3118-13C>G) c.2462-13C>G (n.2462-13C>G) c.2375-13C>G (n.2375-13C>G) n.3651-13C>G | dbSNP |
17 | g.39727676C>T | CA2259229211 | ERBB2 | c.3413-13C>T (n.3413-13C>T) c.3323-13C>T (n.3323-13C>T) c.2585-13C>T (n.2585-13C>T) c.3368-13C>T (n.3368-13C>T) c.*3203-13C>T (n.*3203-13C>T) c.3160-13C>T (n.3160-13C>T) n.3737-13C>T c.3551-13C>T (n.3551-13C>T) c.3506-13C>T (n.3506-13C>T) c.3461-13C>T (n.3461-13C>T) c.3530-13C>T (n.3530-13C>T) c.3515-13C>T (n.3515-13C>T) c.3494-13C>T (n.3494-13C>T) c.3488-13C>T (n.3488-13C>T) c.3443-13C>T (n.3443-13C>T) c.3434-13C>T (n.3434-13C>T) c.3410-13C>T (n.3410-13C>T) c.3404-13C>T (n.3404-13C>T) c.3377-13C>T (n.3377-13C>T) c.3371-13C>T (n.3371-13C>T) c.3365-13C>T (n.3365-13C>T) c.3326-13C>T (n.3326-13C>T) c.3314-13C>T (n.3314-13C>T) c.3257-13C>T (n.3257-13C>T) c.3233-13C>T (n.3233-13C>T) c.3227-13C>T (n.3227-13C>T) c.3209-13C>T (n.3209-13C>T) c.3155-13C>T (n.3155-13C>T) c.3118-13C>T (n.3118-13C>T) c.2462-13C>T (n.2462-13C>T) c.2375-13C>T (n.2375-13C>T) n.3651-13C>T | dbSNP |
17 | g.39727676_39727678delinsCTT | CA2259229212 | ERBB2 | c.3413-13_3413-11delinsCTT (n.3413-13_3413-11delinsCTT) c.3323-13_3323-11delinsCTT (n.3323-13_3323-11delinsCTT) c.2585-13_2585-11delinsCTT (n.2585-13_2585-11delinsCTT) c.3368-13_3368-11delinsCTT (n.3368-13_3368-11delinsCTT) c.*3203-13_*3203-11delinsCTT (n.*3203-13_*3203-11delinsCTT) c.3160-13_3160-11delinsCTT (n.3160-13_3160-11delinsCTT) n.3737-13_3737-11delinsCTT c.3551-13_3551-11delinsCTT (n.3551-13_3551-11delinsCTT) c.3506-13_3506-11delinsCTT (n.3506-13_3506-11delinsCTT) c.3461-13_3461-11delinsCTT (n.3461-13_3461-11delinsCTT) c.3530-13_3530-11delinsCTT (n.3530-13_3530-11delinsCTT) c.3515-13_3515-11delinsCTT (n.3515-13_3515-11delinsCTT) c.3494-13_3494-11delinsCTT (n.3494-13_3494-11delinsCTT) c.3488-13_3488-11delinsCTT (n.3488-13_3488-11delinsCTT) c.3443-13_3443-11delinsCTT (n.3443-13_3443-11delinsCTT) c.3434-13_3434-11delinsCTT (n.3434-13_3434-11delinsCTT) c.3410-13_3410-11delinsCTT (n.3410-13_3410-11delinsCTT) c.3404-13_3404-11delinsCTT (n.3404-13_3404-11delinsCTT) c.3377-13_3377-11delinsCTT (n.3377-13_3377-11delinsCTT) c.3371-13_3371-11delinsCTT (n.3371-13_3371-11delinsCTT) c.3365-13_3365-11delinsCTT (n.3365-13_3365-11delinsCTT) c.3326-13_3326-11delinsCTT (n.3326-13_3326-11delinsCTT) c.3314-13_3314-11delinsCTT (n.3314-13_3314-11delinsCTT) c.3257-13_3257-11delinsCTT (n.3257-13_3257-11delinsCTT) c.3233-13_3233-11delinsCTT (n.3233-13_3233-11delinsCTT) c.3227-13_3227-11delinsCTT (n.3227-13_3227-11delinsCTT) c.3209-13_3209-11delinsCTT (n.3209-13_3209-11delinsCTT) c.3155-13_3155-11delinsCTT (n.3155-13_3155-11delinsCTT) c.3118-13_3118-11delinsCTT (n.3118-13_3118-11delinsCTT) c.2462-13_2462-11delinsCTT (n.2462-13_2462-11delinsCTT) c.2375-13_2375-11delinsCTT (n.2375-13_2375-11delinsCTT) n.3651-13_3651-11delinsCTT | |
17 | g.39727677T>A | CA2733497259 | ERBB2 | c.3413-12T>A (n.3413-12T>A) c.3323-12T>A (n.3323-12T>A) c.2585-12T>A (n.2585-12T>A) c.3368-12T>A (n.3368-12T>A) c.*3203-12T>A (n.*3203-12T>A) c.3160-12T>A (n.3160-12T>A) n.3737-12T>A c.3551-12T>A (n.3551-12T>A) c.3506-12T>A (n.3506-12T>A) c.3461-12T>A (n.3461-12T>A) c.3530-12T>A (n.3530-12T>A) c.3515-12T>A (n.3515-12T>A) c.3494-12T>A (n.3494-12T>A) c.3488-12T>A (n.3488-12T>A) c.3443-12T>A (n.3443-12T>A) c.3434-12T>A (n.3434-12T>A) c.3410-12T>A (n.3410-12T>A) c.3404-12T>A (n.3404-12T>A) c.3377-12T>A (n.3377-12T>A) c.3371-12T>A (n.3371-12T>A) c.3365-12T>A (n.3365-12T>A) c.3326-12T>A (n.3326-12T>A) c.3314-12T>A (n.3314-12T>A) c.3257-12T>A (n.3257-12T>A) c.3233-12T>A (n.3233-12T>A) c.3227-12T>A (n.3227-12T>A) c.3209-12T>A (n.3209-12T>A) c.3155-12T>A (n.3155-12T>A) c.3118-12T>A (n.3118-12T>A) c.2462-12T>A (n.2462-12T>A) c.2375-12T>A (n.2375-12T>A) n.3651-12T>A | dbSNP |
17 | g.39727677T>C | CA2733497258 | ERBB2 | c.3413-12T>C (n.3413-12T>C) c.3323-12T>C (n.3323-12T>C) c.2585-12T>C (n.2585-12T>C) c.3368-12T>C (n.3368-12T>C) c.*3203-12T>C (n.*3203-12T>C) c.3160-12T>C (n.3160-12T>C) n.3737-12T>C c.3551-12T>C (n.3551-12T>C) c.3506-12T>C (n.3506-12T>C) c.3461-12T>C (n.3461-12T>C) c.3530-12T>C (n.3530-12T>C) c.3515-12T>C (n.3515-12T>C) c.3494-12T>C (n.3494-12T>C) c.3488-12T>C (n.3488-12T>C) c.3443-12T>C (n.3443-12T>C) c.3434-12T>C (n.3434-12T>C) c.3410-12T>C (n.3410-12T>C) c.3404-12T>C (n.3404-12T>C) c.3377-12T>C (n.3377-12T>C) c.3371-12T>C (n.3371-12T>C) c.3365-12T>C (n.3365-12T>C) c.3326-12T>C (n.3326-12T>C) c.3314-12T>C (n.3314-12T>C) c.3257-12T>C (n.3257-12T>C) c.3233-12T>C (n.3233-12T>C) c.3227-12T>C (n.3227-12T>C) c.3209-12T>C (n.3209-12T>C) c.3155-12T>C (n.3155-12T>C) c.3118-12T>C (n.3118-12T>C) c.2462-12T>C (n.2462-12T>C) c.2375-12T>C (n.2375-12T>C) n.3651-12T>C | dbSNP |
17 | g.39727677_39727678del | CA983617410 | ERBB2 | c.3413-12_3413-11del (n.3413-12_3413-11del) c.3323-12_3323-11del (n.3323-12_3323-11del) c.2585-12_2585-11del (n.2585-12_2585-11del) c.3368-12_3368-11del (n.3368-12_3368-11del) c.*3203-12_*3203-11del (n.*3203-12_*3203-11del) c.3160-12_3160-11del (n.3160-12_3160-11del) n.3737-12_3737-11del c.3551-12_3551-11del (n.3551-12_3551-11del) c.3506-12_3506-11del (n.3506-12_3506-11del) c.3461-12_3461-11del (n.3461-12_3461-11del) c.3530-12_3530-11del (n.3530-12_3530-11del) c.3515-12_3515-11del (n.3515-12_3515-11del) c.3494-12_3494-11del (n.3494-12_3494-11del) c.3488-12_3488-11del (n.3488-12_3488-11del) c.3443-12_3443-11del (n.3443-12_3443-11del) c.3434-12_3434-11del (n.3434-12_3434-11del) c.3410-12_3410-11del (n.3410-12_3410-11del) c.3404-12_3404-11del (n.3404-12_3404-11del) c.3377-12_3377-11del (n.3377-12_3377-11del) c.3371-12_3371-11del (n.3371-12_3371-11del) c.3365-12_3365-11del (n.3365-12_3365-11del) c.3326-12_3326-11del (n.3326-12_3326-11del) c.3314-12_3314-11del (n.3314-12_3314-11del) c.3257-12_3257-11del (n.3257-12_3257-11del) c.3233-12_3233-11del (n.3233-12_3233-11del) c.3227-12_3227-11del (n.3227-12_3227-11del) c.3209-12_3209-11del (n.3209-12_3209-11del) c.3155-12_3155-11del (n.3155-12_3155-11del) c.3118-12_3118-11del (n.3118-12_3118-11del) c.2462-12_2462-11del (n.2462-12_2462-11del) c.2375-12_2375-11del (n.2375-12_2375-11del) n.3651-12_3651-11del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727678T>C | CA2637629516 | ERBB2 | c.3413-11T>C (n.3413-11T>C) c.3323-11T>C (n.3323-11T>C) c.2585-11T>C (n.2585-11T>C) c.3368-11T>C (n.3368-11T>C) c.*3203-11T>C (n.*3203-11T>C) c.3160-11T>C (n.3160-11T>C) n.3737-11T>C c.3551-11T>C (n.3551-11T>C) c.3506-11T>C (n.3506-11T>C) c.3461-11T>C (n.3461-11T>C) c.3530-11T>C (n.3530-11T>C) c.3515-11T>C (n.3515-11T>C) c.3494-11T>C (n.3494-11T>C) c.3488-11T>C (n.3488-11T>C) c.3443-11T>C (n.3443-11T>C) c.3434-11T>C (n.3434-11T>C) c.3410-11T>C (n.3410-11T>C) c.3404-11T>C (n.3404-11T>C) c.3377-11T>C (n.3377-11T>C) c.3371-11T>C (n.3371-11T>C) c.3365-11T>C (n.3365-11T>C) c.3326-11T>C (n.3326-11T>C) c.3314-11T>C (n.3314-11T>C) c.3257-11T>C (n.3257-11T>C) c.3233-11T>C (n.3233-11T>C) c.3227-11T>C (n.3227-11T>C) c.3209-11T>C (n.3209-11T>C) c.3155-11T>C (n.3155-11T>C) c.3118-11T>C (n.3118-11T>C) c.2462-11T>C (n.2462-11T>C) c.2375-11T>C (n.2375-11T>C) n.3651-11T>C | gnomAD v4 |
17 | g.39727679G>A | CA626209389 | ERBB2 | c.3413-10G>A (n.3413-10G>A) c.3323-10G>A (n.3323-10G>A) c.2585-10G>A (n.2585-10G>A) c.3368-10G>A (n.3368-10G>A) c.*3203-10G>A (n.*3203-10G>A) c.3160-10G>A (n.3160-10G>A) n.3737-10G>A c.3551-10G>A (n.3551-10G>A) c.3506-10G>A (n.3506-10G>A) c.3461-10G>A (n.3461-10G>A) c.3530-10G>A (n.3530-10G>A) c.3515-10G>A (n.3515-10G>A) c.3494-10G>A (n.3494-10G>A) c.3488-10G>A (n.3488-10G>A) c.3443-10G>A (n.3443-10G>A) c.3434-10G>A (n.3434-10G>A) c.3410-10G>A (n.3410-10G>A) c.3404-10G>A (n.3404-10G>A) c.3377-10G>A (n.3377-10G>A) c.3371-10G>A (n.3371-10G>A) c.3365-10G>A (n.3365-10G>A) c.3326-10G>A (n.3326-10G>A) c.3314-10G>A (n.3314-10G>A) c.3257-10G>A (n.3257-10G>A) c.3233-10G>A (n.3233-10G>A) c.3227-10G>A (n.3227-10G>A) c.3209-10G>A (n.3209-10G>A) c.3155-10G>A (n.3155-10G>A) c.3118-10G>A (n.3118-10G>A) c.2462-10G>A (n.2462-10G>A) c.2375-10G>A (n.2375-10G>A) n.3651-10G>A | dbSNP gnomAD v2 |
17 | g.39727679G>C | CA2733233168 | ERBB2 | c.3413-10G>C (n.3413-10G>C) c.3323-10G>C (n.3323-10G>C) c.2585-10G>C (n.2585-10G>C) c.3368-10G>C (n.3368-10G>C) c.*3203-10G>C (n.*3203-10G>C) c.3160-10G>C (n.3160-10G>C) n.3737-10G>C c.3551-10G>C (n.3551-10G>C) c.3506-10G>C (n.3506-10G>C) c.3461-10G>C (n.3461-10G>C) c.3530-10G>C (n.3530-10G>C) c.3515-10G>C (n.3515-10G>C) c.3494-10G>C (n.3494-10G>C) c.3488-10G>C (n.3488-10G>C) c.3443-10G>C (n.3443-10G>C) c.3434-10G>C (n.3434-10G>C) c.3410-10G>C (n.3410-10G>C) c.3404-10G>C (n.3404-10G>C) c.3377-10G>C (n.3377-10G>C) c.3371-10G>C (n.3371-10G>C) c.3365-10G>C (n.3365-10G>C) c.3326-10G>C (n.3326-10G>C) c.3314-10G>C (n.3314-10G>C) c.3257-10G>C (n.3257-10G>C) c.3233-10G>C (n.3233-10G>C) c.3227-10G>C (n.3227-10G>C) c.3209-10G>C (n.3209-10G>C) c.3155-10G>C (n.3155-10G>C) c.3118-10G>C (n.3118-10G>C) c.2462-10G>C (n.2462-10G>C) c.2375-10G>C (n.2375-10G>C) n.3651-10G>C | dbSNP |
17 | g.39727679G= | CA2259229213 | ERBB2 | c.3413-10G= (n.3413-10G=) c.3323-10G= (n.3323-10G=) c.2585-10G= (n.2585-10G=) c.3368-10G= (n.3368-10G=) c.*3203-10G= (n.*3203-10G=) c.3160-10G= (n.3160-10G=) n.3737-10G= c.3551-10G= (n.3551-10G=) c.3506-10G= (n.3506-10G=) c.3461-10G= (n.3461-10G=) c.3530-10G= (n.3530-10G=) c.3515-10G= (n.3515-10G=) c.3494-10G= (n.3494-10G=) c.3488-10G= (n.3488-10G=) c.3443-10G= (n.3443-10G=) c.3434-10G= (n.3434-10G=) c.3410-10G= (n.3410-10G=) c.3404-10G= (n.3404-10G=) c.3377-10G= (n.3377-10G=) c.3371-10G= (n.3371-10G=) c.3365-10G= (n.3365-10G=) c.3326-10G= (n.3326-10G=) c.3314-10G= (n.3314-10G=) c.3257-10G= (n.3257-10G=) c.3233-10G= (n.3233-10G=) c.3227-10G= (n.3227-10G=) c.3209-10G= (n.3209-10G=) c.3155-10G= (n.3155-10G=) c.3118-10G= (n.3118-10G=) c.2462-10G= (n.2462-10G=) c.2375-10G= (n.2375-10G=) n.3651-10G= | |
17 | g.39727680A>C | CA2733497261 | ERBB2 | c.3413-9A>C (n.3413-9A>C) c.3323-9A>C (n.3323-9A>C) c.2585-9A>C (n.2585-9A>C) c.3368-9A>C (n.3368-9A>C) c.*3203-9A>C (n.*3203-9A>C) c.3160-9A>C (n.3160-9A>C) n.3737-9A>C c.3551-9A>C (n.3551-9A>C) c.3506-9A>C (n.3506-9A>C) c.3461-9A>C (n.3461-9A>C) c.3530-9A>C (n.3530-9A>C) c.3515-9A>C (n.3515-9A>C) c.3494-9A>C (n.3494-9A>C) c.3488-9A>C (n.3488-9A>C) c.3443-9A>C (n.3443-9A>C) c.3434-9A>C (n.3434-9A>C) c.3410-9A>C (n.3410-9A>C) c.3404-9A>C (n.3404-9A>C) c.3377-9A>C (n.3377-9A>C) c.3371-9A>C (n.3371-9A>C) c.3365-9A>C (n.3365-9A>C) c.3326-9A>C (n.3326-9A>C) c.3314-9A>C (n.3314-9A>C) c.3257-9A>C (n.3257-9A>C) c.3233-9A>C (n.3233-9A>C) c.3227-9A>C (n.3227-9A>C) c.3209-9A>C (n.3209-9A>C) c.3155-9A>C (n.3155-9A>C) c.3118-9A>C (n.3118-9A>C) c.2462-9A>C (n.2462-9A>C) c.2375-9A>C (n.2375-9A>C) n.3651-9A>C | dbSNP |
17 | g.39727680A>G | CA2733497260 | ERBB2 | c.3413-9A>G (n.3413-9A>G) c.3323-9A>G (n.3323-9A>G) c.2585-9A>G (n.2585-9A>G) c.3368-9A>G (n.3368-9A>G) c.*3203-9A>G (n.*3203-9A>G) c.3160-9A>G (n.3160-9A>G) n.3737-9A>G c.3551-9A>G (n.3551-9A>G) c.3506-9A>G (n.3506-9A>G) c.3461-9A>G (n.3461-9A>G) c.3530-9A>G (n.3530-9A>G) c.3515-9A>G (n.3515-9A>G) c.3494-9A>G (n.3494-9A>G) c.3488-9A>G (n.3488-9A>G) c.3443-9A>G (n.3443-9A>G) c.3434-9A>G (n.3434-9A>G) c.3410-9A>G (n.3410-9A>G) c.3404-9A>G (n.3404-9A>G) c.3377-9A>G (n.3377-9A>G) c.3371-9A>G (n.3371-9A>G) c.3365-9A>G (n.3365-9A>G) c.3326-9A>G (n.3326-9A>G) c.3314-9A>G (n.3314-9A>G) c.3257-9A>G (n.3257-9A>G) c.3233-9A>G (n.3233-9A>G) c.3227-9A>G (n.3227-9A>G) c.3209-9A>G (n.3209-9A>G) c.3155-9A>G (n.3155-9A>G) c.3118-9A>G (n.3118-9A>G) c.2462-9A>G (n.2462-9A>G) c.2375-9A>G (n.2375-9A>G) n.3651-9A>G | dbSNP |
17 | g.39727681C>A | CA2733497262 | ERBB2 | c.3413-8C>A (n.3413-8C>A) c.3323-8C>A (n.3323-8C>A) c.2585-8C>A (n.2585-8C>A) c.3368-8C>A (n.3368-8C>A) c.*3203-8C>A (n.*3203-8C>A) c.3160-8C>A (n.3160-8C>A) n.3737-8C>A c.3551-8C>A (n.3551-8C>A) c.3506-8C>A (n.3506-8C>A) c.3461-8C>A (n.3461-8C>A) c.3530-8C>A (n.3530-8C>A) c.3515-8C>A (n.3515-8C>A) c.3494-8C>A (n.3494-8C>A) c.3488-8C>A (n.3488-8C>A) c.3443-8C>A (n.3443-8C>A) c.3434-8C>A (n.3434-8C>A) c.3410-8C>A (n.3410-8C>A) c.3404-8C>A (n.3404-8C>A) c.3377-8C>A (n.3377-8C>A) c.3371-8C>A (n.3371-8C>A) c.3365-8C>A (n.3365-8C>A) c.3326-8C>A (n.3326-8C>A) c.3314-8C>A (n.3314-8C>A) c.3257-8C>A (n.3257-8C>A) c.3233-8C>A (n.3233-8C>A) c.3227-8C>A (n.3227-8C>A) c.3209-8C>A (n.3209-8C>A) c.3155-8C>A (n.3155-8C>A) c.3118-8C>A (n.3118-8C>A) c.2462-8C>A (n.2462-8C>A) c.2375-8C>A (n.2375-8C>A) n.3651-8C>A | dbSNP |
17 | g.39727681C>G | CA2733497263 | ERBB2 | c.3413-8C>G (n.3413-8C>G) c.3323-8C>G (n.3323-8C>G) c.2585-8C>G (n.2585-8C>G) c.3368-8C>G (n.3368-8C>G) c.*3203-8C>G (n.*3203-8C>G) c.3160-8C>G (n.3160-8C>G) n.3737-8C>G c.3551-8C>G (n.3551-8C>G) c.3506-8C>G (n.3506-8C>G) c.3461-8C>G (n.3461-8C>G) c.3530-8C>G (n.3530-8C>G) c.3515-8C>G (n.3515-8C>G) c.3494-8C>G (n.3494-8C>G) c.3488-8C>G (n.3488-8C>G) c.3443-8C>G (n.3443-8C>G) c.3434-8C>G (n.3434-8C>G) c.3410-8C>G (n.3410-8C>G) c.3404-8C>G (n.3404-8C>G) c.3377-8C>G (n.3377-8C>G) c.3371-8C>G (n.3371-8C>G) c.3365-8C>G (n.3365-8C>G) c.3326-8C>G (n.3326-8C>G) c.3314-8C>G (n.3314-8C>G) c.3257-8C>G (n.3257-8C>G) c.3233-8C>G (n.3233-8C>G) c.3227-8C>G (n.3227-8C>G) c.3209-8C>G (n.3209-8C>G) c.3155-8C>G (n.3155-8C>G) c.3118-8C>G (n.3118-8C>G) c.2462-8C>G (n.2462-8C>G) c.2375-8C>G (n.2375-8C>G) n.3651-8C>G | dbSNP |
17 | g.39727681C>T | CA2733497264 | ERBB2 | c.3413-8C>T (n.3413-8C>T) c.3323-8C>T (n.3323-8C>T) c.2585-8C>T (n.2585-8C>T) c.3368-8C>T (n.3368-8C>T) c.*3203-8C>T (n.*3203-8C>T) c.3160-8C>T (n.3160-8C>T) n.3737-8C>T c.3551-8C>T (n.3551-8C>T) c.3506-8C>T (n.3506-8C>T) c.3461-8C>T (n.3461-8C>T) c.3530-8C>T (n.3530-8C>T) c.3515-8C>T (n.3515-8C>T) c.3494-8C>T (n.3494-8C>T) c.3488-8C>T (n.3488-8C>T) c.3443-8C>T (n.3443-8C>T) c.3434-8C>T (n.3434-8C>T) c.3410-8C>T (n.3410-8C>T) c.3404-8C>T (n.3404-8C>T) c.3377-8C>T (n.3377-8C>T) c.3371-8C>T (n.3371-8C>T) c.3365-8C>T (n.3365-8C>T) c.3326-8C>T (n.3326-8C>T) c.3314-8C>T (n.3314-8C>T) c.3257-8C>T (n.3257-8C>T) c.3233-8C>T (n.3233-8C>T) c.3227-8C>T (n.3227-8C>T) c.3209-8C>T (n.3209-8C>T) c.3155-8C>T (n.3155-8C>T) c.3118-8C>T (n.3118-8C>T) c.2462-8C>T (n.2462-8C>T) c.2375-8C>T (n.2375-8C>T) n.3651-8C>T | dbSNP |
17 | g.39727682_39727683delinsCT | CA2259229214 | ERBB2 | c.3413-7_3413-6delinsCT (n.3413-7_3413-6delinsCT) c.3323-7_3323-6delinsCT (n.3323-7_3323-6delinsCT) c.2585-7_2585-6delinsCT (n.2585-7_2585-6delinsCT) c.3368-7_3368-6delinsCT (n.3368-7_3368-6delinsCT) c.*3203-7_*3203-6delinsCT (n.*3203-7_*3203-6delinsCT) c.3160-7_3160-6delinsCT (n.3160-7_3160-6delinsCT) n.3737-7_3737-6delinsCT c.3551-7_3551-6delinsCT (n.3551-7_3551-6delinsCT) c.3506-7_3506-6delinsCT (n.3506-7_3506-6delinsCT) c.3461-7_3461-6delinsCT (n.3461-7_3461-6delinsCT) c.3530-7_3530-6delinsCT (n.3530-7_3530-6delinsCT) c.3515-7_3515-6delinsCT (n.3515-7_3515-6delinsCT) c.3494-7_3494-6delinsCT (n.3494-7_3494-6delinsCT) c.3488-7_3488-6delinsCT (n.3488-7_3488-6delinsCT) c.3443-7_3443-6delinsCT (n.3443-7_3443-6delinsCT) c.3434-7_3434-6delinsCT (n.3434-7_3434-6delinsCT) c.3410-7_3410-6delinsCT (n.3410-7_3410-6delinsCT) c.3404-7_3404-6delinsCT (n.3404-7_3404-6delinsCT) c.3377-7_3377-6delinsCT (n.3377-7_3377-6delinsCT) c.3371-7_3371-6delinsCT (n.3371-7_3371-6delinsCT) c.3365-7_3365-6delinsCT (n.3365-7_3365-6delinsCT) c.3326-7_3326-6delinsCT (n.3326-7_3326-6delinsCT) c.3314-7_3314-6delinsCT (n.3314-7_3314-6delinsCT) c.3257-7_3257-6delinsCT (n.3257-7_3257-6delinsCT) c.3233-7_3233-6delinsCT (n.3233-7_3233-6delinsCT) c.3227-7_3227-6delinsCT (n.3227-7_3227-6delinsCT) c.3209-7_3209-6delinsCT (n.3209-7_3209-6delinsCT) c.3155-7_3155-6delinsCT (n.3155-7_3155-6delinsCT) c.3118-7_3118-6delinsCT (n.3118-7_3118-6delinsCT) c.2462-7_2462-6delinsCT (n.2462-7_2462-6delinsCT) c.2375-7_2375-6delinsCT (n.2375-7_2375-6delinsCT) n.3651-7_3651-6delinsCT | |
17 | g.39727683T>A | CA2733497265 | ERBB2 | c.3413-6T>A (n.3413-6T>A) c.3323-6T>A (n.3323-6T>A) c.2585-6T>A (n.2585-6T>A) c.3368-6T>A (n.3368-6T>A) c.*3203-6T>A (n.*3203-6T>A) c.3160-6T>A (n.3160-6T>A) n.3737-6T>A c.3551-6T>A (n.3551-6T>A) c.3506-6T>A (n.3506-6T>A) c.3461-6T>A (n.3461-6T>A) c.3530-6T>A (n.3530-6T>A) c.3515-6T>A (n.3515-6T>A) c.3494-6T>A (n.3494-6T>A) c.3488-6T>A (n.3488-6T>A) c.3443-6T>A (n.3443-6T>A) c.3434-6T>A (n.3434-6T>A) c.3410-6T>A (n.3410-6T>A) c.3404-6T>A (n.3404-6T>A) c.3377-6T>A (n.3377-6T>A) c.3371-6T>A (n.3371-6T>A) c.3365-6T>A (n.3365-6T>A) c.3326-6T>A (n.3326-6T>A) c.3314-6T>A (n.3314-6T>A) c.3257-6T>A (n.3257-6T>A) c.3233-6T>A (n.3233-6T>A) c.3227-6T>A (n.3227-6T>A) c.3209-6T>A (n.3209-6T>A) c.3155-6T>A (n.3155-6T>A) c.3118-6T>A (n.3118-6T>A) c.2462-6T>A (n.2462-6T>A) c.2375-6T>A (n.2375-6T>A) n.3651-6T>A | dbSNP |
17 | g.39727683T>C | CA2637629526 | ERBB2 | c.3413-6T>C (n.3413-6T>C) c.3323-6T>C (n.3323-6T>C) c.2585-6T>C (n.2585-6T>C) c.3368-6T>C (n.3368-6T>C) c.*3203-6T>C (n.*3203-6T>C) c.3160-6T>C (n.3160-6T>C) n.3737-6T>C c.3551-6T>C (n.3551-6T>C) c.3506-6T>C (n.3506-6T>C) c.3461-6T>C (n.3461-6T>C) c.3530-6T>C (n.3530-6T>C) c.3515-6T>C (n.3515-6T>C) c.3494-6T>C (n.3494-6T>C) c.3488-6T>C (n.3488-6T>C) c.3443-6T>C (n.3443-6T>C) c.3434-6T>C (n.3434-6T>C) c.3410-6T>C (n.3410-6T>C) c.3404-6T>C (n.3404-6T>C) c.3377-6T>C (n.3377-6T>C) c.3371-6T>C (n.3371-6T>C) c.3365-6T>C (n.3365-6T>C) c.3326-6T>C (n.3326-6T>C) c.3314-6T>C (n.3314-6T>C) c.3257-6T>C (n.3257-6T>C) c.3233-6T>C (n.3233-6T>C) c.3227-6T>C (n.3227-6T>C) c.3209-6T>C (n.3209-6T>C) c.3155-6T>C (n.3155-6T>C) c.3118-6T>C (n.3118-6T>C) c.2462-6T>C (n.2462-6T>C) c.2375-6T>C (n.2375-6T>C) n.3651-6T>C | dbSNP gnomAD v4 |
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 |
17 | g.39727698A>T | CA399312841 | ERBB2 | c.3422A>T (p.Asn1141Ile) c.3332A>T (p.Asn1111Ile) c.2594A>T (p.Asn865Ile) c.3377A>T (p.Asn1126Ile) c.*3212A>T (n.*3212A>T) c.*1A>T (n.*1A>T) n.3746A>T c.3560A>T (p.Asn1187Ile) c.3515A>T (p.Asn1172Ile) c.3470A>T (p.Asn1157Ile) c.3539A>T (p.Asn1180Ile) c.3524A>T (p.Asn1175Ile) c.3503A>T (p.Asn1168Ile) c.3497A>T (p.Asn1166Ile) c.3452A>T (p.Asn1151Ile) c.3443A>T (p.Asn1148Ile) c.3419A>T (p.Asn1140Ile) c.3413A>T (p.Asn1138Ile) c.3386A>T (p.Asn1129Ile) c.3380A>T (p.Asn1127Ile) c.3374A>T (p.Asn1125Ile) c.3335A>T (p.Asn1112Ile) c.3323A>T (p.Asn1108Ile) c.3266A>T (p.Asn1089Ile) c.3242A>T (p.Asn1081Ile) c.3236A>T (p.Asn1079Ile) c.3218A>T (p.Asn1073Ile) c.3164A>T (p.Asn1055Ile) c.2471A>T (p.Asn824Ile) c.2384A>T (p.Asn795Ile) n.3660A>T | dbSNP |
17 | g.39727699C>A | CA290443703 | ERBB2 | c.3423C>A (p.Asn1141Lys) c.3333C>A (p.Asn1111Lys) c.2595C>A (p.Asn865Lys) c.3378C>A (p.Asn1126Lys) c.*3213C>A (n.*3213C>A) c.*2C>A (n.*2C>A) n.3747C>A c.3561C>A (p.Asn1187Lys) c.3516C>A (p.Asn1172Lys) c.3471C>A (p.Asn1157Lys) c.3540C>A (p.Asn1180Lys) c.3525C>A (p.Asn1175Lys) c.3504C>A (p.Asn1168Lys) c.3498C>A (p.Asn1166Lys) c.3453C>A (p.Asn1151Lys) c.3444C>A (p.Asn1148Lys) c.3420C>A (p.Asn1140Lys) c.3414C>A (p.Asn1138Lys) c.3387C>A (p.Asn1129Lys) c.3381C>A (p.Asn1127Lys) c.3375C>A (p.Asn1125Lys) c.3336C>A (p.Asn1112Lys) c.3324C>A (p.Asn1108Lys) c.3267C>A (p.Asn1089Lys) c.3243C>A (p.Asn1081Lys) c.3237C>A (p.Asn1079Lys) c.3219C>A (p.Asn1073Lys) c.3165C>A (p.Asn1055Lys) c.2472C>A (p.Asn824Lys) c.2385C>A (p.Asn795Lys) n.3661C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727699C= | CA2259229221 | ERBB2 | c.3423C= (p.Asn1141=) c.3333C= (p.Asn1111=) c.2595C= (p.Asn865=) c.3378C= (p.Asn1126=) c.*3213C= (n.*3213C=) c.*2C= (n.*2C=) n.3747C= c.3561C= (p.Asn1187=) c.3516C= (p.Asn1172=) c.3471C= (p.Asn1157=) c.3540C= (p.Asn1180=) c.3525C= (p.Asn1175=) c.3504C= (p.Asn1168=) c.3498C= (p.Asn1166=) c.3453C= (p.Asn1151=) c.3444C= (p.Asn1148=) c.3420C= (p.Asn1140=) c.3414C= (p.Asn1138=) c.3387C= (p.Asn1129=) c.3381C= (p.Asn1127=) c.3375C= (p.Asn1125=) c.3336C= (p.Asn1112=) c.3324C= (p.Asn1108=) c.3267C= (p.Asn1089=) c.3243C= (p.Asn1081=) c.3237C= (p.Asn1079=) c.3219C= (p.Asn1073=) c.3165C= (p.Asn1055=) c.2472C= (p.Asn824=) c.2385C= (p.Asn795=) n.3661C= | |
17 | g.39727699C>G | CA399312842 | ERBB2 | c.3423C>G (p.Asn1141Lys) c.3333C>G (p.Asn1111Lys) c.2595C>G (p.Asn865Lys) c.3378C>G (p.Asn1126Lys) c.*3213C>G (n.*3213C>G) c.*2C>G (n.*2C>G) n.3747C>G c.3561C>G (p.Asn1187Lys) c.3516C>G (p.Asn1172Lys) c.3471C>G (p.Asn1157Lys) c.3540C>G (p.Asn1180Lys) c.3525C>G (p.Asn1175Lys) c.3504C>G (p.Asn1168Lys) c.3498C>G (p.Asn1166Lys) c.3453C>G (p.Asn1151Lys) c.3444C>G (p.Asn1148Lys) c.3420C>G (p.Asn1140Lys) c.3414C>G (p.Asn1138Lys) c.3387C>G (p.Asn1129Lys) c.3381C>G (p.Asn1127Lys) c.3375C>G (p.Asn1125Lys) c.3336C>G (p.Asn1112Lys) c.3324C>G (p.Asn1108Lys) c.3267C>G (p.Asn1089Lys) c.3243C>G (p.Asn1081Lys) c.3237C>G (p.Asn1079Lys) c.3219C>G (p.Asn1073Lys) c.3165C>G (p.Asn1055Lys) c.2472C>G (p.Asn824Lys) c.2385C>G (p.Asn795Lys) n.3661C>G | dbSNP gnomAD v4 |
17 | g.39727699C>T | CA499890308 | ERBB2 | c.3423C>T (p.Asn1141=) c.3333C>T (p.Asn1111=) c.2595C>T (p.Asn865=) c.3378C>T (p.Asn1126=) c.*3213C>T (n.*3213C>T) c.*2C>T (n.*2C>T) n.3747C>T c.3561C>T (p.Asn1187=) c.3516C>T (p.Asn1172=) c.3471C>T (p.Asn1157=) c.3540C>T (p.Asn1180=) c.3525C>T (p.Asn1175=) c.3504C>T (p.Asn1168=) c.3498C>T (p.Asn1166=) c.3453C>T (p.Asn1151=) c.3444C>T (p.Asn1148=) c.3420C>T (p.Asn1140=) c.3414C>T (p.Asn1138=) c.3387C>T (p.Asn1129=) c.3381C>T (p.Asn1127=) c.3375C>T (p.Asn1125=) c.3336C>T (p.Asn1112=) c.3324C>T (p.Asn1108=) c.3267C>T (p.Asn1089=) c.3243C>T (p.Asn1081=) c.3237C>T (p.Asn1079=) c.3219C>T (p.Asn1073=) c.3165C>T (p.Asn1055=) c.2472C>T (p.Asn824=) c.2385C>T (p.Asn795=) n.3661C>T | ClinVar dbSNP gnomAD v2 |
17 | g.39727700C>A | CA399312843 | ERBB2 | c.3424C>A (p.Gln1142Lys) c.3334C>A (p.Gln1112Lys) c.2596C>A (p.Gln866Lys) c.3379C>A (p.Gln1127Lys) c.*3214C>A (n.*3214C>A) c.*3C>A (n.*3C>A) n.3748C>A c.3562C>A (p.Gln1188Lys) c.3517C>A (p.Gln1173Lys) c.3472C>A (p.Gln1158Lys) c.3541C>A (p.Gln1181Lys) c.3526C>A (p.Gln1176Lys) c.3505C>A (p.Gln1169Lys) c.3499C>A (p.Gln1167Lys) c.3454C>A (p.Gln1152Lys) c.3445C>A (p.Gln1149Lys) c.3421C>A (p.Gln1141Lys) c.3415C>A (p.Gln1139Lys) c.3388C>A (p.Gln1130Lys) c.3382C>A (p.Gln1128Lys) c.3376C>A (p.Gln1126Lys) c.3337C>A (p.Gln1113Lys) c.3325C>A (p.Gln1109Lys) c.3268C>A (p.Gln1090Lys) c.3244C>A (p.Gln1082Lys) c.3238C>A (p.Gln1080Lys) c.3220C>A (p.Gln1074Lys) c.3166C>A (p.Gln1056Lys) c.2473C>A (p.Gln825Lys) c.2386C>A (p.Gln796Lys) n.3662C>A | |
17 | g.39727700C>G | CA399312844 | ERBB2 | c.3424C>G (p.Gln1142Glu) c.3334C>G (p.Gln1112Glu) c.2596C>G (p.Gln866Glu) c.3379C>G (p.Gln1127Glu) c.*3214C>G (n.*3214C>G) c.*3C>G (n.*3C>G) n.3748C>G c.3562C>G (p.Gln1188Glu) c.3517C>G (p.Gln1173Glu) c.3472C>G (p.Gln1158Glu) c.3541C>G (p.Gln1181Glu) c.3526C>G (p.Gln1176Glu) c.3505C>G (p.Gln1169Glu) c.3499C>G (p.Gln1167Glu) c.3454C>G (p.Gln1152Glu) c.3445C>G (p.Gln1149Glu) c.3421C>G (p.Gln1141Glu) c.3415C>G (p.Gln1139Glu) c.3388C>G (p.Gln1130Glu) c.3382C>G (p.Gln1128Glu) c.3376C>G (p.Gln1126Glu) c.3337C>G (p.Gln1113Glu) c.3325C>G (p.Gln1109Glu) c.3268C>G (p.Gln1090Glu) c.3244C>G (p.Gln1082Glu) c.3238C>G (p.Gln1080Glu) c.3220C>G (p.Gln1074Glu) c.3166C>G (p.Gln1056Glu) c.2473C>G (p.Gln825Glu) c.2386C>G (p.Gln796Glu) n.3662C>G | |
17 | g.39727700C>T | CA399312845 | ERBB2 | c.3424C>T (p.Gln1142Ter) c.3334C>T (p.Gln1112Ter) c.2596C>T (p.Gln866Ter) c.3379C>T (p.Gln1127Ter) c.*3214C>T (n.*3214C>T) c.*3C>T (n.*3C>T) n.3748C>T c.3562C>T (p.Gln1188Ter) c.3517C>T (p.Gln1173Ter) c.3472C>T (p.Gln1158Ter) c.3541C>T (p.Gln1181Ter) c.3526C>T (p.Gln1176Ter) c.3505C>T (p.Gln1169Ter) c.3499C>T (p.Gln1167Ter) c.3454C>T (p.Gln1152Ter) c.3445C>T (p.Gln1149Ter) c.3421C>T (p.Gln1141Ter) c.3415C>T (p.Gln1139Ter) c.3388C>T (p.Gln1130Ter) c.3382C>T (p.Gln1128Ter) c.3376C>T (p.Gln1126Ter) c.3337C>T (p.Gln1113Ter) c.3325C>T (p.Gln1109Ter) c.3268C>T (p.Gln1090Ter) c.3244C>T (p.Gln1082Ter) c.3238C>T (p.Gln1080Ter) c.3220C>T (p.Gln1074Ter) c.3166C>T (p.Gln1056Ter) c.2473C>T (p.Gln825Ter) c.2386C>T (p.Gln796Ter) n.3662C>T | gnomAD v4 |
17 | g.39727701A>C | CA399312846 | ERBB2 | c.3425A>C (p.Gln1142Pro) c.3335A>C (p.Gln1112Pro) c.2597A>C (p.Gln866Pro) c.3380A>C (p.Gln1127Pro) c.*3215A>C (n.*3215A>C) c.*4A>C (n.*4A>C) n.3749A>C c.3563A>C (p.Gln1188Pro) c.3518A>C (p.Gln1173Pro) c.3473A>C (p.Gln1158Pro) c.3542A>C (p.Gln1181Pro) c.3527A>C (p.Gln1176Pro) c.3506A>C (p.Gln1169Pro) c.3500A>C (p.Gln1167Pro) c.3455A>C (p.Gln1152Pro) c.3446A>C (p.Gln1149Pro) c.3422A>C (p.Gln1141Pro) c.3416A>C (p.Gln1139Pro) c.3389A>C (p.Gln1130Pro) c.3383A>C (p.Gln1128Pro) c.3377A>C (p.Gln1126Pro) c.3338A>C (p.Gln1113Pro) c.3326A>C (p.Gln1109Pro) c.3269A>C (p.Gln1090Pro) c.3245A>C (p.Gln1082Pro) c.3239A>C (p.Gln1080Pro) c.3221A>C (p.Gln1074Pro) c.3167A>C (p.Gln1056Pro) c.2474A>C (p.Gln825Pro) c.2387A>C (p.Gln796Pro) n.3663A>C | |
17 | g.39727701A>G | CA399312847 | ERBB2 | c.3425A>G (p.Gln1142Arg) c.3335A>G (p.Gln1112Arg) c.2597A>G (p.Gln866Arg) c.3380A>G (p.Gln1127Arg) c.*3215A>G (n.*3215A>G) c.*4A>G (n.*4A>G) n.3749A>G c.3563A>G (p.Gln1188Arg) c.3518A>G (p.Gln1173Arg) c.3473A>G (p.Gln1158Arg) c.3542A>G (p.Gln1181Arg) c.3527A>G (p.Gln1176Arg) c.3506A>G (p.Gln1169Arg) c.3500A>G (p.Gln1167Arg) c.3455A>G (p.Gln1152Arg) c.3446A>G (p.Gln1149Arg) c.3422A>G (p.Gln1141Arg) c.3416A>G (p.Gln1139Arg) c.3389A>G (p.Gln1130Arg) c.3383A>G (p.Gln1128Arg) c.3377A>G (p.Gln1126Arg) c.3338A>G (p.Gln1113Arg) c.3326A>G (p.Gln1109Arg) c.3269A>G (p.Gln1090Arg) c.3245A>G (p.Gln1082Arg) c.3239A>G (p.Gln1080Arg) c.3221A>G (p.Gln1074Arg) c.3167A>G (p.Gln1056Arg) c.2474A>G (p.Gln825Arg) c.2387A>G (p.Gln796Arg) n.3663A>G | dbSNP |
17 | g.39727701A>T | CA399312848 | ERBB2 | c.3425A>T (p.Gln1142Leu) c.3335A>T (p.Gln1112Leu) c.2597A>T (p.Gln866Leu) c.3380A>T (p.Gln1127Leu) c.*3215A>T (n.*3215A>T) c.*4A>T (n.*4A>T) n.3749A>T c.3563A>T (p.Gln1188Leu) c.3518A>T (p.Gln1173Leu) c.3473A>T (p.Gln1158Leu) c.3542A>T (p.Gln1181Leu) c.3527A>T (p.Gln1176Leu) c.3506A>T (p.Gln1169Leu) c.3500A>T (p.Gln1167Leu) c.3455A>T (p.Gln1152Leu) c.3446A>T (p.Gln1149Leu) c.3422A>T (p.Gln1141Leu) c.3416A>T (p.Gln1139Leu) c.3389A>T (p.Gln1130Leu) c.3383A>T (p.Gln1128Leu) c.3377A>T (p.Gln1126Leu) c.3338A>T (p.Gln1113Leu) c.3326A>T (p.Gln1109Leu) c.3269A>T (p.Gln1090Leu) c.3245A>T (p.Gln1082Leu) c.3239A>T (p.Gln1080Leu) c.3221A>T (p.Gln1074Leu) c.3167A>T (p.Gln1056Leu) c.2474A>T (p.Gln825Leu) c.2387A>T (p.Gln796Leu) n.3663A>T | dbSNP |
17 | g.39727702G>A | CA499890309 | ERBB2 | c.3426G>A (p.Gln1142=) c.3336G>A (p.Gln1112=) c.2598G>A (p.Gln866=) c.3381G>A (p.Gln1127=) c.*3216G>A (n.*3216G>A) c.*5G>A (n.*5G>A) n.3750G>A c.3564G>A (p.Gln1188=) c.3519G>A (p.Gln1173=) c.3474G>A (p.Gln1158=) c.3543G>A (p.Gln1181=) c.3528G>A (p.Gln1176=) c.3507G>A (p.Gln1169=) c.3501G>A (p.Gln1167=) c.3456G>A (p.Gln1152=) c.3447G>A (p.Gln1149=) c.3423G>A (p.Gln1141=) c.3417G>A (p.Gln1139=) c.3390G>A (p.Gln1130=) c.3384G>A (p.Gln1128=) c.3378G>A (p.Gln1126=) c.3339G>A (p.Gln1113=) c.3327G>A (p.Gln1109=) c.3270G>A (p.Gln1090=) c.3246G>A (p.Gln1082=) c.3240G>A (p.Gln1080=) c.3222G>A (p.Gln1074=) c.3168G>A (p.Gln1056=) c.2475G>A (p.Gln825=) c.2388G>A (p.Gln796=) n.3664G>A | dbSNP |
17 | g.39727702G>C | CA399312849 | ERBB2 | c.3426G>C (p.Gln1142His) c.3336G>C (p.Gln1112His) c.2598G>C (p.Gln866His) c.3381G>C (p.Gln1127His) c.*3216G>C (n.*3216G>C) c.*5G>C (n.*5G>C) n.3750G>C c.3564G>C (p.Gln1188His) c.3519G>C (p.Gln1173His) c.3474G>C (p.Gln1158His) c.3543G>C (p.Gln1181His) c.3528G>C (p.Gln1176His) c.3507G>C (p.Gln1169His) c.3501G>C (p.Gln1167His) c.3456G>C (p.Gln1152His) c.3447G>C (p.Gln1149His) c.3423G>C (p.Gln1141His) c.3417G>C (p.Gln1139His) c.3390G>C (p.Gln1130His) c.3384G>C (p.Gln1128His) c.3378G>C (p.Gln1126His) c.3339G>C (p.Gln1113His) c.3327G>C (p.Gln1109His) c.3270G>C (p.Gln1090His) c.3246G>C (p.Gln1082His) c.3240G>C (p.Gln1080His) c.3222G>C (p.Gln1074His) c.3168G>C (p.Gln1056His) c.2475G>C (p.Gln825His) c.2388G>C (p.Gln796His) n.3664G>C | dbSNP gnomAD v4 |
17 | g.39727702G>T | CA399312850 | ERBB2 | c.3426G>T (p.Gln1142His) c.3336G>T (p.Gln1112His) c.2598G>T (p.Gln866His) c.3381G>T (p.Gln1127His) c.*3216G>T (n.*3216G>T) c.*5G>T (n.*5G>T) n.3750G>T c.3564G>T (p.Gln1188His) c.3519G>T (p.Gln1173His) c.3474G>T (p.Gln1158His) c.3543G>T (p.Gln1181His) c.3528G>T (p.Gln1176His) c.3507G>T (p.Gln1169His) c.3501G>T (p.Gln1167His) c.3456G>T (p.Gln1152His) c.3447G>T (p.Gln1149His) c.3423G>T (p.Gln1141His) c.3417G>T (p.Gln1139His) c.3390G>T (p.Gln1130His) c.3384G>T (p.Gln1128His) c.3378G>T (p.Gln1126His) c.3339G>T (p.Gln1113His) c.3327G>T (p.Gln1109His) c.3270G>T (p.Gln1090His) c.3246G>T (p.Gln1082His) c.3240G>T (p.Gln1080His) c.3222G>T (p.Gln1074His) c.3168G>T (p.Gln1056His) c.2475G>T (p.Gln825His) c.2388G>T (p.Gln796His) n.3664G>T | |
17 | g.39727703C>A | CA158649 | ERBB2 | c.3427C>A (p.Pro1143Thr) c.3337C>A (p.Pro1113Thr) c.2599C>A (p.Pro867Thr) c.3382C>A (p.Pro1128Thr) c.*3217C>A (n.*3217C>A) c.*6C>A (n.*6C>A) n.3751C>A c.3565C>A (p.Pro1189Thr) c.3520C>A (p.Pro1174Thr) c.3475C>A (p.Pro1159Thr) c.3544C>A (p.Pro1182Thr) c.3529C>A (p.Pro1177Thr) c.3508C>A (p.Pro1170Thr) c.3502C>A (p.Pro1168Thr) c.3457C>A (p.Pro1153Thr) c.3448C>A (p.Pro1150Thr) c.3424C>A (p.Pro1142Thr) c.3418C>A (p.Pro1140Thr) c.3391C>A (p.Pro1131Thr) c.3385C>A (p.Pro1129Thr) c.3379C>A (p.Pro1127Thr) c.3340C>A (p.Pro1114Thr) c.3328C>A (p.Pro1110Thr) c.3271C>A (p.Pro1091Thr) c.3247C>A (p.Pro1083Thr) c.3241C>A (p.Pro1081Thr) c.3223C>A (p.Pro1075Thr) c.3169C>A (p.Pro1057Thr) c.2476C>A (p.Pro826Thr) c.2389C>A (p.Pro797Thr) n.3665C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727703C= | CA2259229222 | ERBB2 | c.3427C= (p.Pro1143=) c.3337C= (p.Pro1113=) c.2599C= (p.Pro867=) c.3382C= (p.Pro1128=) c.*3217C= (n.*3217C=) c.*6C= (n.*6C=) n.3751C= c.3565C= (p.Pro1189=) c.3520C= (p.Pro1174=) c.3475C= (p.Pro1159=) c.3544C= (p.Pro1182=) c.3529C= (p.Pro1177=) c.3508C= (p.Pro1170=) c.3502C= (p.Pro1168=) c.3457C= (p.Pro1153=) c.3448C= (p.Pro1150=) c.3424C= (p.Pro1142=) c.3418C= (p.Pro1140=) c.3391C= (p.Pro1131=) c.3385C= (p.Pro1129=) c.3379C= (p.Pro1127=) c.3340C= (p.Pro1114=) c.3328C= (p.Pro1110=) c.3271C= (p.Pro1091=) c.3247C= (p.Pro1083=) c.3241C= (p.Pro1081=) c.3223C= (p.Pro1075=) c.3169C= (p.Pro1057=) c.2476C= (p.Pro826=) c.2389C= (p.Pro797=) n.3665C= | |
17 | g.39727703C>G | CA399312852 | ERBB2 | c.3427C>G (p.Pro1143Ala) c.3337C>G (p.Pro1113Ala) c.2599C>G (p.Pro867Ala) c.3382C>G (p.Pro1128Ala) c.*3217C>G (n.*3217C>G) c.*6C>G (n.*6C>G) n.3751C>G c.3565C>G (p.Pro1189Ala) c.3520C>G (p.Pro1174Ala) c.3475C>G (p.Pro1159Ala) c.3544C>G (p.Pro1182Ala) c.3529C>G (p.Pro1177Ala) c.3508C>G (p.Pro1170Ala) c.3502C>G (p.Pro1168Ala) c.3457C>G (p.Pro1153Ala) c.3448C>G (p.Pro1150Ala) c.3424C>G (p.Pro1142Ala) c.3418C>G (p.Pro1140Ala) c.3391C>G (p.Pro1131Ala) c.3385C>G (p.Pro1129Ala) c.3379C>G (p.Pro1127Ala) c.3340C>G (p.Pro1114Ala) c.3328C>G (p.Pro1110Ala) c.3271C>G (p.Pro1091Ala) c.3247C>G (p.Pro1083Ala) c.3241C>G (p.Pro1081Ala) c.3223C>G (p.Pro1075Ala) c.3169C>G (p.Pro1057Ala) c.2476C>G (p.Pro826Ala) c.2389C>G (p.Pro797Ala) n.3665C>G | dbSNP |
17 | g.39727703C>T | CA399312851 | ERBB2 | c.3427C>T (p.Pro1143Ser) c.3337C>T (p.Pro1113Ser) c.2599C>T (p.Pro867Ser) c.3382C>T (p.Pro1128Ser) c.*3217C>T (n.*3217C>T) c.*6C>T (n.*6C>T) n.3751C>T c.3565C>T (p.Pro1189Ser) c.3520C>T (p.Pro1174Ser) c.3475C>T (p.Pro1159Ser) c.3544C>T (p.Pro1182Ser) c.3529C>T (p.Pro1177Ser) c.3508C>T (p.Pro1170Ser) c.3502C>T (p.Pro1168Ser) c.3457C>T (p.Pro1153Ser) c.3448C>T (p.Pro1150Ser) c.3424C>T (p.Pro1142Ser) c.3418C>T (p.Pro1140Ser) c.3391C>T (p.Pro1131Ser) c.3385C>T (p.Pro1129Ser) c.3379C>T (p.Pro1127Ser) c.3340C>T (p.Pro1114Ser) c.3328C>T (p.Pro1110Ser) c.3271C>T (p.Pro1091Ser) c.3247C>T (p.Pro1083Ser) c.3241C>T (p.Pro1081Ser) c.3223C>T (p.Pro1075Ser) c.3169C>T (p.Pro1057Ser) c.2476C>T (p.Pro826Ser) c.2389C>T (p.Pro797Ser) n.3665C>T | dbSNP |
17 | g.39727704C>A | CA399312853 | ERBB2 | c.3428C>A (p.Pro1143Gln) c.3338C>A (p.Pro1113Gln) c.2600C>A (p.Pro867Gln) c.3383C>A (p.Pro1128Gln) c.*3218C>A (n.*3218C>A) c.*7C>A (n.*7C>A) n.3752C>A c.3566C>A (p.Pro1189Gln) c.3521C>A (p.Pro1174Gln) c.3476C>A (p.Pro1159Gln) c.3545C>A (p.Pro1182Gln) c.3530C>A (p.Pro1177Gln) c.3509C>A (p.Pro1170Gln) c.3503C>A (p.Pro1168Gln) c.3458C>A (p.Pro1153Gln) c.3449C>A (p.Pro1150Gln) c.3425C>A (p.Pro1142Gln) c.3419C>A (p.Pro1140Gln) c.3392C>A (p.Pro1131Gln) c.3386C>A (p.Pro1129Gln) c.3380C>A (p.Pro1127Gln) c.3341C>A (p.Pro1114Gln) c.3329C>A (p.Pro1110Gln) c.3272C>A (p.Pro1091Gln) c.3248C>A (p.Pro1083Gln) c.3242C>A (p.Pro1081Gln) c.3224C>A (p.Pro1075Gln) c.3170C>A (p.Pro1057Gln) c.2477C>A (p.Pro826Gln) c.2390C>A (p.Pro797Gln) n.3666C>A | dbSNP gnomAD v4 |
17 | g.39727704C= | CA2259229223 | ERBB2 | c.3428C= (p.Pro1143=) c.3338C= (p.Pro1113=) c.2600C= (p.Pro867=) c.3383C= (p.Pro1128=) c.*3218C= (n.*3218C=) c.*7C= (n.*7C=) n.3752C= c.3566C= (p.Pro1189=) c.3521C= (p.Pro1174=) c.3476C= (p.Pro1159=) c.3545C= (p.Pro1182=) c.3530C= (p.Pro1177=) c.3509C= (p.Pro1170=) c.3503C= (p.Pro1168=) c.3458C= (p.Pro1153=) c.3449C= (p.Pro1150=) c.3425C= (p.Pro1142=) c.3419C= (p.Pro1140=) c.3392C= (p.Pro1131=) c.3386C= (p.Pro1129=) c.3380C= (p.Pro1127=) c.3341C= (p.Pro1114=) c.3329C= (p.Pro1110=) c.3272C= (p.Pro1091=) c.3248C= (p.Pro1083=) c.3242C= (p.Pro1081=) c.3224C= (p.Pro1075=) c.3170C= (p.Pro1057=) c.2477C= (p.Pro826=) c.2390C= (p.Pro797=) n.3666C= | |
17 | g.39727704C>G | CA399312854 | ERBB2 | c.3428C>G (p.Pro1143Arg) c.3338C>G (p.Pro1113Arg) c.2600C>G (p.Pro867Arg) c.3383C>G (p.Pro1128Arg) c.*3218C>G (n.*3218C>G) c.*7C>G (n.*7C>G) n.3752C>G c.3566C>G (p.Pro1189Arg) c.3521C>G (p.Pro1174Arg) c.3476C>G (p.Pro1159Arg) c.3545C>G (p.Pro1182Arg) c.3530C>G (p.Pro1177Arg) c.3509C>G (p.Pro1170Arg) c.3503C>G (p.Pro1168Arg) c.3458C>G (p.Pro1153Arg) c.3449C>G (p.Pro1150Arg) c.3425C>G (p.Pro1142Arg) c.3419C>G (p.Pro1140Arg) c.3392C>G (p.Pro1131Arg) c.3386C>G (p.Pro1129Arg) c.3380C>G (p.Pro1127Arg) c.3341C>G (p.Pro1114Arg) c.3329C>G (p.Pro1110Arg) c.3272C>G (p.Pro1091Arg) c.3248C>G (p.Pro1083Arg) c.3242C>G (p.Pro1081Arg) c.3224C>G (p.Pro1075Arg) c.3170C>G (p.Pro1057Arg) c.2477C>G (p.Pro826Arg) c.2390C>G (p.Pro797Arg) n.3666C>G | dbSNP gnomAD v4 |
17 | g.39727704C>T | CA158656 | ERBB2 | c.3428C>T (p.Pro1143Leu) c.3338C>T (p.Pro1113Leu) c.2600C>T (p.Pro867Leu) c.3383C>T (p.Pro1128Leu) c.*3218C>T (n.*3218C>T) c.*7C>T (n.*7C>T) n.3752C>T c.3566C>T (p.Pro1189Leu) c.3521C>T (p.Pro1174Leu) c.3476C>T (p.Pro1159Leu) c.3545C>T (p.Pro1182Leu) c.3530C>T (p.Pro1177Leu) c.3509C>T (p.Pro1170Leu) c.3503C>T (p.Pro1168Leu) c.3458C>T (p.Pro1153Leu) c.3449C>T (p.Pro1150Leu) c.3425C>T (p.Pro1142Leu) c.3419C>T (p.Pro1140Leu) c.3392C>T (p.Pro1131Leu) c.3386C>T (p.Pro1129Leu) c.3380C>T (p.Pro1127Leu) c.3341C>T (p.Pro1114Leu) c.3329C>T (p.Pro1110Leu) c.3272C>T (p.Pro1091Leu) c.3248C>T (p.Pro1083Leu) c.3242C>T (p.Pro1081Leu) c.3224C>T (p.Pro1075Leu) c.3170C>T (p.Pro1057Leu) c.2477C>T (p.Pro826Leu) c.2390C>T (p.Pro797Leu) n.3666C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727705A= | CA2259229224 | ERBB2 | c.3429A= (p.Pro1143=) c.3339A= (p.Pro1113=) c.2601A= (p.Pro867=) c.3384A= (p.Pro1128=) c.*3219A= (n.*3219A=) c.*8A= (n.*8A=) n.3753A= c.3567A= (p.Pro1189=) c.3522A= (p.Pro1174=) c.3477A= (p.Pro1159=) c.3546A= (p.Pro1182=) c.3531A= (p.Pro1177=) c.3510A= (p.Pro1170=) c.3504A= (p.Pro1168=) c.3459A= (p.Pro1153=) c.3450A= (p.Pro1150=) c.3426A= (p.Pro1142=) c.3420A= (p.Pro1140=) c.3393A= (p.Pro1131=) c.3387A= (p.Pro1129=) c.3381A= (p.Pro1127=) c.3342A= (p.Pro1114=) c.3330A= (p.Pro1110=) c.3273A= (p.Pro1091=) c.3249A= (p.Pro1083=) c.3243A= (p.Pro1081=) c.3225A= (p.Pro1075=) c.3171A= (p.Pro1057=) c.2478A= (p.Pro826=) c.2391A= (p.Pro797=) n.3667A= | |
17 | g.39727705A>C | CA499890310 | ERBB2 | c.3429A>C (p.Pro1143=) c.3339A>C (p.Pro1113=) c.2601A>C (p.Pro867=) c.3384A>C (p.Pro1128=) c.*3219A>C (n.*3219A>C) c.*8A>C (n.*8A>C) n.3753A>C c.3567A>C (p.Pro1189=) c.3522A>C (p.Pro1174=) c.3477A>C (p.Pro1159=) c.3546A>C (p.Pro1182=) c.3531A>C (p.Pro1177=) c.3510A>C (p.Pro1170=) c.3504A>C (p.Pro1168=) c.3459A>C (p.Pro1153=) c.3450A>C (p.Pro1150=) c.3426A>C (p.Pro1142=) c.3420A>C (p.Pro1140=) c.3393A>C (p.Pro1131=) c.3387A>C (p.Pro1129=) c.3381A>C (p.Pro1127=) c.3342A>C (p.Pro1114=) c.3330A>C (p.Pro1110=) c.3273A>C (p.Pro1091=) c.3249A>C (p.Pro1083=) c.3243A>C (p.Pro1081=) c.3225A>C (p.Pro1075=) c.3171A>C (p.Pro1057=) c.2478A>C (p.Pro826=) c.2391A>C (p.Pro797=) n.3667A>C | |
17 | g.39727705A>G | CA290443722 | ERBB2 | c.3429A>G (p.Pro1143=) c.3339A>G (p.Pro1113=) c.2601A>G (p.Pro867=) c.3384A>G (p.Pro1128=) c.*3219A>G (n.*3219A>G) c.*8A>G (n.*8A>G) n.3753A>G c.3567A>G (p.Pro1189=) c.3522A>G (p.Pro1174=) c.3477A>G (p.Pro1159=) c.3546A>G (p.Pro1182=) c.3531A>G (p.Pro1177=) c.3510A>G (p.Pro1170=) c.3504A>G (p.Pro1168=) c.3459A>G (p.Pro1153=) c.3450A>G (p.Pro1150=) c.3426A>G (p.Pro1142=) c.3420A>G (p.Pro1140=) c.3393A>G (p.Pro1131=) c.3387A>G (p.Pro1129=) c.3381A>G (p.Pro1127=) c.3342A>G (p.Pro1114=) c.3330A>G (p.Pro1110=) c.3273A>G (p.Pro1091=) c.3249A>G (p.Pro1083=) c.3243A>G (p.Pro1081=) c.3225A>G (p.Pro1075=) c.3171A>G (p.Pro1057=) c.2478A>G (p.Pro826=) c.2391A>G (p.Pro797=) n.3667A>G | dbSNP gnomAD v4 |
17 | g.39727705A>T | CA499890311 | ERBB2 | c.3429A>T (p.Pro1143=) c.3339A>T (p.Pro1113=) c.2601A>T (p.Pro867=) c.3384A>T (p.Pro1128=) c.*3219A>T (n.*3219A>T) c.*8A>T (n.*8A>T) n.3753A>T c.3567A>T (p.Pro1189=) c.3522A>T (p.Pro1174=) c.3477A>T (p.Pro1159=) c.3546A>T (p.Pro1182=) c.3531A>T (p.Pro1177=) c.3510A>T (p.Pro1170=) c.3504A>T (p.Pro1168=) c.3459A>T (p.Pro1153=) c.3450A>T (p.Pro1150=) c.3426A>T (p.Pro1142=) c.3420A>T (p.Pro1140=) c.3393A>T (p.Pro1131=) c.3387A>T (p.Pro1129=) c.3381A>T (p.Pro1127=) c.3342A>T (p.Pro1114=) c.3330A>T (p.Pro1110=) c.3273A>T (p.Pro1091=) c.3249A>T (p.Pro1083=) c.3243A>T (p.Pro1081=) c.3225A>T (p.Pro1075=) c.3171A>T (p.Pro1057=) c.2478A>T (p.Pro826=) c.2391A>T (p.Pro797=) n.3667A>T | dbSNP |
17 | g.39727706G>A | CA399312855 | ERBB2 | c.3430G>A (p.Asp1144Asn) c.3340G>A (p.Asp1114Asn) c.2602G>A (p.Asp868Asn) c.3385G>A (p.Asp1129Asn) c.*3220G>A (n.*3220G>A) c.*9G>A (n.*9G>A) n.3754G>A c.3568G>A (p.Asp1190Asn) c.3523G>A (p.Asp1175Asn) c.3478G>A (p.Asp1160Asn) c.3547G>A (p.Asp1183Asn) c.3532G>A (p.Asp1178Asn) c.3511G>A (p.Asp1171Asn) c.3505G>A (p.Asp1169Asn) c.3460G>A (p.Asp1154Asn) c.3451G>A (p.Asp1151Asn) c.3427G>A (p.Asp1143Asn) c.3421G>A (p.Asp1141Asn) c.3394G>A (p.Asp1132Asn) c.3388G>A (p.Asp1130Asn) c.3382G>A (p.Asp1128Asn) c.3343G>A (p.Asp1115Asn) c.3331G>A (p.Asp1111Asn) c.3274G>A (p.Asp1092Asn) c.3250G>A (p.Asp1084Asn) c.3244G>A (p.Asp1082Asn) c.3226G>A (p.Asp1076Asn) c.3172G>A (p.Asp1058Asn) c.2479G>A (p.Asp827Asn) c.2392G>A (p.Asp798Asn) n.3668G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727706G>C | CA8534559 | ERBB2 | c.3430G>C (p.Asp1144His) c.3340G>C (p.Asp1114His) c.2602G>C (p.Asp868His) c.3385G>C (p.Asp1129His) c.*3220G>C (n.*3220G>C) c.*9G>C (n.*9G>C) n.3754G>C c.3568G>C (p.Asp1190His) c.3523G>C (p.Asp1175His) c.3478G>C (p.Asp1160His) c.3547G>C (p.Asp1183His) c.3532G>C (p.Asp1178His) c.3511G>C (p.Asp1171His) c.3505G>C (p.Asp1169His) c.3460G>C (p.Asp1154His) c.3451G>C (p.Asp1151His) c.3427G>C (p.Asp1143His) c.3421G>C (p.Asp1141His) c.3394G>C (p.Asp1132His) c.3388G>C (p.Asp1130His) c.3382G>C (p.Asp1128His) c.3343G>C (p.Asp1115His) c.3331G>C (p.Asp1111His) c.3274G>C (p.Asp1092His) c.3250G>C (p.Asp1084His) c.3244G>C (p.Asp1082His) c.3226G>C (p.Asp1076His) c.3172G>C (p.Asp1058His) c.2479G>C (p.Asp827His) c.2392G>C (p.Asp798His) n.3668G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727706G= | CA2259229225 | ERBB2 | c.3430G= (p.Asp1144=) c.3340G= (p.Asp1114=) c.2602G= (p.Asp868=) c.3385G= (p.Asp1129=) c.*3220G= (n.*3220G=) c.*9G= (n.*9G=) n.3754G= c.3568G= (p.Asp1190=) c.3523G= (p.Asp1175=) c.3478G= (p.Asp1160=) c.3547G= (p.Asp1183=) c.3532G= (p.Asp1178=) c.3511G= (p.Asp1171=) c.3505G= (p.Asp1169=) c.3460G= (p.Asp1154=) c.3451G= (p.Asp1151=) c.3427G= (p.Asp1143=) c.3421G= (p.Asp1141=) c.3394G= (p.Asp1132=) c.3388G= (p.Asp1130=) c.3382G= (p.Asp1128=) c.3343G= (p.Asp1115=) c.3331G= (p.Asp1111=) c.3274G= (p.Asp1092=) c.3250G= (p.Asp1084=) c.3244G= (p.Asp1082=) c.3226G= (p.Asp1076=) c.3172G= (p.Asp1058=) c.2479G= (p.Asp827=) c.2392G= (p.Asp798=) n.3668G= | |
17 | g.39727706G>T | CA399312856 | ERBB2 | c.3430G>T (p.Asp1144Tyr) c.3340G>T (p.Asp1114Tyr) c.2602G>T (p.Asp868Tyr) c.3385G>T (p.Asp1129Tyr) c.*3220G>T (n.*3220G>T) c.*9G>T (n.*9G>T) n.3754G>T c.3568G>T (p.Asp1190Tyr) c.3523G>T (p.Asp1175Tyr) c.3478G>T (p.Asp1160Tyr) c.3547G>T (p.Asp1183Tyr) c.3532G>T (p.Asp1178Tyr) c.3511G>T (p.Asp1171Tyr) c.3505G>T (p.Asp1169Tyr) c.3460G>T (p.Asp1154Tyr) c.3451G>T (p.Asp1151Tyr) c.3427G>T (p.Asp1143Tyr) c.3421G>T (p.Asp1141Tyr) c.3394G>T (p.Asp1132Tyr) c.3388G>T (p.Asp1130Tyr) c.3382G>T (p.Asp1128Tyr) c.3343G>T (p.Asp1115Tyr) c.3331G>T (p.Asp1111Tyr) c.3274G>T (p.Asp1092Tyr) c.3250G>T (p.Asp1084Tyr) c.3244G>T (p.Asp1082Tyr) c.3226G>T (p.Asp1076Tyr) c.3172G>T (p.Asp1058Tyr) c.2479G>T (p.Asp827Tyr) c.2392G>T (p.Asp798Tyr) n.3668G>T | dbSNP gnomAD v4 |
17 | g.39727707A>C | CA399312857 | ERBB2 | c.3431A>C (p.Asp1144Ala) c.3341A>C (p.Asp1114Ala) c.2603A>C (p.Asp868Ala) c.3386A>C (p.Asp1129Ala) c.*3221A>C (n.*3221A>C) c.*10A>C (n.*10A>C) n.3755A>C c.3569A>C (p.Asp1190Ala) c.3524A>C (p.Asp1175Ala) c.3479A>C (p.Asp1160Ala) c.3548A>C (p.Asp1183Ala) c.3533A>C (p.Asp1178Ala) c.3512A>C (p.Asp1171Ala) c.3506A>C (p.Asp1169Ala) c.3461A>C (p.Asp1154Ala) c.3452A>C (p.Asp1151Ala) c.3428A>C (p.Asp1143Ala) c.3422A>C (p.Asp1141Ala) c.3395A>C (p.Asp1132Ala) c.3389A>C (p.Asp1130Ala) c.3383A>C (p.Asp1128Ala) c.3344A>C (p.Asp1115Ala) c.3332A>C (p.Asp1111Ala) c.3275A>C (p.Asp1092Ala) c.3251A>C (p.Asp1084Ala) c.3245A>C (p.Asp1082Ala) c.3227A>C (p.Asp1076Ala) c.3173A>C (p.Asp1058Ala) c.2480A>C (p.Asp827Ala) c.2393A>C (p.Asp798Ala) n.3669A>C | dbSNP |
17 | g.39727707A>G | CA399312858 | ERBB2 | c.3431A>G (p.Asp1144Gly) c.3341A>G (p.Asp1114Gly) c.2603A>G (p.Asp868Gly) c.3386A>G (p.Asp1129Gly) c.*3221A>G (n.*3221A>G) c.*10A>G (n.*10A>G) n.3755A>G c.3569A>G (p.Asp1190Gly) c.3524A>G (p.Asp1175Gly) c.3479A>G (p.Asp1160Gly) c.3548A>G (p.Asp1183Gly) c.3533A>G (p.Asp1178Gly) c.3512A>G (p.Asp1171Gly) c.3506A>G (p.Asp1169Gly) c.3461A>G (p.Asp1154Gly) c.3452A>G (p.Asp1151Gly) c.3428A>G (p.Asp1143Gly) c.3422A>G (p.Asp1141Gly) c.3395A>G (p.Asp1132Gly) c.3389A>G (p.Asp1130Gly) c.3383A>G (p.Asp1128Gly) c.3344A>G (p.Asp1115Gly) c.3332A>G (p.Asp1111Gly) c.3275A>G (p.Asp1092Gly) c.3251A>G (p.Asp1084Gly) c.3245A>G (p.Asp1082Gly) c.3227A>G (p.Asp1076Gly) c.3173A>G (p.Asp1058Gly) c.2480A>G (p.Asp827Gly) c.2393A>G (p.Asp798Gly) n.3669A>G | dbSNP |
17 | g.39727707A>T | CA399312859 | ERBB2 | c.3431A>T (p.Asp1144Val) c.3341A>T (p.Asp1114Val) c.2603A>T (p.Asp868Val) c.3386A>T (p.Asp1129Val) c.*3221A>T (n.*3221A>T) c.*10A>T (n.*10A>T) n.3755A>T c.3569A>T (p.Asp1190Val) c.3524A>T (p.Asp1175Val) c.3479A>T (p.Asp1160Val) c.3548A>T (p.Asp1183Val) c.3533A>T (p.Asp1178Val) c.3512A>T (p.Asp1171Val) c.3506A>T (p.Asp1169Val) c.3461A>T (p.Asp1154Val) c.3452A>T (p.Asp1151Val) c.3428A>T (p.Asp1143Val) c.3422A>T (p.Asp1141Val) c.3395A>T (p.Asp1132Val) c.3389A>T (p.Asp1130Val) c.3383A>T (p.Asp1128Val) c.3344A>T (p.Asp1115Val) c.3332A>T (p.Asp1111Val) c.3275A>T (p.Asp1092Val) c.3251A>T (p.Asp1084Val) c.3245A>T (p.Asp1082Val) c.3227A>T (p.Asp1076Val) c.3173A>T (p.Asp1058Val) c.2480A>T (p.Asp827Val) c.2393A>T (p.Asp798Val) n.3669A>T | dbSNP |
17 | g.39727708T>A | CA399312860 | ERBB2 | c.3432T>A (p.Asp1144Glu) c.3342T>A (p.Asp1114Glu) c.2604T>A (p.Asp868Glu) c.3387T>A (p.Asp1129Glu) c.*3222T>A (n.*3222T>A) c.*11T>A (n.*11T>A) n.3756T>A c.3570T>A (p.Asp1190Glu) c.3525T>A (p.Asp1175Glu) c.3480T>A (p.Asp1160Glu) c.3549T>A (p.Asp1183Glu) c.3534T>A (p.Asp1178Glu) c.3513T>A (p.Asp1171Glu) c.3507T>A (p.Asp1169Glu) c.3462T>A (p.Asp1154Glu) c.3453T>A (p.Asp1151Glu) c.3429T>A (p.Asp1143Glu) c.3423T>A (p.Asp1141Glu) c.3396T>A (p.Asp1132Glu) c.3390T>A (p.Asp1130Glu) c.3384T>A (p.Asp1128Glu) c.3345T>A (p.Asp1115Glu) c.3333T>A (p.Asp1111Glu) c.3276T>A (p.Asp1092Glu) c.3252T>A (p.Asp1084Glu) c.3246T>A (p.Asp1082Glu) c.3228T>A (p.Asp1076Glu) c.3174T>A (p.Asp1058Glu) c.2481T>A (p.Asp827Glu) c.2394T>A (p.Asp798Glu) n.3670T>A | dbSNP |
17 | g.39727708T>C | CA499890487 | ERBB2 | c.3432T>C (p.Asp1144=) c.3342T>C (p.Asp1114=) c.2604T>C (p.Asp868=) c.3387T>C (p.Asp1129=) c.*3222T>C (n.*3222T>C) c.*11T>C (n.*11T>C) n.3756T>C c.3570T>C (p.Asp1190=) c.3525T>C (p.Asp1175=) c.3480T>C (p.Asp1160=) c.3549T>C (p.Asp1183=) c.3534T>C (p.Asp1178=) c.3513T>C (p.Asp1171=) c.3507T>C (p.Asp1169=) c.3462T>C (p.Asp1154=) c.3453T>C (p.Asp1151=) c.3429T>C (p.Asp1143=) c.3423T>C (p.Asp1141=) c.3396T>C (p.Asp1132=) c.3390T>C (p.Asp1130=) c.3384T>C (p.Asp1128=) c.3345T>C (p.Asp1115=) c.3333T>C (p.Asp1111=) c.3276T>C (p.Asp1092=) c.3252T>C (p.Asp1084=) c.3246T>C (p.Asp1082=) c.3228T>C (p.Asp1076=) c.3174T>C (p.Asp1058=) c.2481T>C (p.Asp827=) c.2394T>C (p.Asp798=) n.3670T>C | dbSNP |
17 | g.39727708T>G | CA399312861 | ERBB2 | c.3432T>G (p.Asp1144Glu) c.3342T>G (p.Asp1114Glu) c.2604T>G (p.Asp868Glu) c.3387T>G (p.Asp1129Glu) c.*3222T>G (n.*3222T>G) c.*11T>G (n.*11T>G) n.3756T>G c.3570T>G (p.Asp1190Glu) c.3525T>G (p.Asp1175Glu) c.3480T>G (p.Asp1160Glu) c.3549T>G (p.Asp1183Glu) c.3534T>G (p.Asp1178Glu) c.3513T>G (p.Asp1171Glu) c.3507T>G (p.Asp1169Glu) c.3462T>G (p.Asp1154Glu) c.3453T>G (p.Asp1151Glu) c.3429T>G (p.Asp1143Glu) c.3423T>G (p.Asp1141Glu) c.3396T>G (p.Asp1132Glu) c.3390T>G (p.Asp1130Glu) c.3384T>G (p.Asp1128Glu) c.3345T>G (p.Asp1115Glu) c.3333T>G (p.Asp1111Glu) c.3276T>G (p.Asp1092Glu) c.3252T>G (p.Asp1084Glu) c.3246T>G (p.Asp1082Glu) c.3228T>G (p.Asp1076Glu) c.3174T>G (p.Asp1058Glu) c.2481T>G (p.Asp827Glu) c.2394T>G (p.Asp798Glu) n.3670T>G | dbSNP |
17 | g.39727709G>A | CA399312864 | ERBB2 | c.3433G>A (p.Val1145Ile) c.3343G>A (p.Val1115Ile) c.2605G>A (p.Val869Ile) c.3388G>A (p.Val1130Ile) c.*3223G>A (n.*3223G>A) c.*12G>A (n.*12G>A) n.3757G>A c.3571G>A (p.Val1191Ile) c.3526G>A (p.Val1176Ile) c.3481G>A (p.Val1161Ile) c.3550G>A (p.Val1184Ile) c.3535G>A (p.Val1179Ile) c.3514G>A (p.Val1172Ile) c.3508G>A (p.Val1170Ile) c.3463G>A (p.Val1155Ile) c.3454G>A (p.Val1152Ile) c.3430G>A (p.Val1144Ile) c.3424G>A (p.Val1142Ile) c.3397G>A (p.Val1133Ile) c.3391G>A (p.Val1131Ile) c.3385G>A (p.Val1129Ile) c.3346G>A (p.Val1116Ile) c.3334G>A (p.Val1112Ile) c.3277G>A (p.Val1093Ile) c.3253G>A (p.Val1085Ile) c.3247G>A (p.Val1083Ile) c.3229G>A (p.Val1077Ile) c.3175G>A (p.Val1059Ile) c.2482G>A (p.Val828Ile) c.2395G>A (p.Val799Ile) n.3671G>A | dbSNP |
17 | g.39727709G>C | CA399312862 | ERBB2 | c.3433G>C (p.Val1145Leu) c.3343G>C (p.Val1115Leu) c.2605G>C (p.Val869Leu) c.3388G>C (p.Val1130Leu) c.*3223G>C (n.*3223G>C) c.*12G>C (n.*12G>C) n.3757G>C c.3571G>C (p.Val1191Leu) c.3526G>C (p.Val1176Leu) c.3481G>C (p.Val1161Leu) c.3550G>C (p.Val1184Leu) c.3535G>C (p.Val1179Leu) c.3514G>C (p.Val1172Leu) c.3508G>C (p.Val1170Leu) c.3463G>C (p.Val1155Leu) c.3454G>C (p.Val1152Leu) c.3430G>C (p.Val1144Leu) c.3424G>C (p.Val1142Leu) c.3397G>C (p.Val1133Leu) c.3391G>C (p.Val1131Leu) c.3385G>C (p.Val1129Leu) c.3346G>C (p.Val1116Leu) c.3334G>C (p.Val1112Leu) c.3277G>C (p.Val1093Leu) c.3253G>C (p.Val1085Leu) c.3247G>C (p.Val1083Leu) c.3229G>C (p.Val1077Leu) c.3175G>C (p.Val1059Leu) c.2482G>C (p.Val828Leu) c.2395G>C (p.Val799Leu) n.3671G>C | dbSNP |
17 | g.39727709G>T | CA399312863 | ERBB2 | c.3433G>T (p.Val1145Phe) c.3343G>T (p.Val1115Phe) c.2605G>T (p.Val869Phe) c.3388G>T (p.Val1130Phe) c.*3223G>T (n.*3223G>T) c.*12G>T (n.*12G>T) n.3757G>T c.3571G>T (p.Val1191Phe) c.3526G>T (p.Val1176Phe) c.3481G>T (p.Val1161Phe) c.3550G>T (p.Val1184Phe) c.3535G>T (p.Val1179Phe) c.3514G>T (p.Val1172Phe) c.3508G>T (p.Val1170Phe) c.3463G>T (p.Val1155Phe) c.3454G>T (p.Val1152Phe) c.3430G>T (p.Val1144Phe) c.3424G>T (p.Val1142Phe) c.3397G>T (p.Val1133Phe) c.3391G>T (p.Val1131Phe) c.3385G>T (p.Val1129Phe) c.3346G>T (p.Val1116Phe) c.3334G>T (p.Val1112Phe) c.3277G>T (p.Val1093Phe) c.3253G>T (p.Val1085Phe) c.3247G>T (p.Val1083Phe) c.3229G>T (p.Val1077Phe) c.3175G>T (p.Val1059Phe) c.2482G>T (p.Val828Phe) c.2395G>T (p.Val799Phe) n.3671G>T | dbSNP |
17 | g.39727710T>A | CA399312865 | ERBB2 | c.3434T>A (p.Val1145Asp) c.3344T>A (p.Val1115Asp) c.2606T>A (p.Val869Asp) c.3389T>A (p.Val1130Asp) c.*3224T>A (n.*3224T>A) c.*13T>A (n.*13T>A) n.3758T>A c.3572T>A (p.Val1191Asp) c.3527T>A (p.Val1176Asp) c.3482T>A (p.Val1161Asp) c.3551T>A (p.Val1184Asp) c.3536T>A (p.Val1179Asp) c.3515T>A (p.Val1172Asp) c.3509T>A (p.Val1170Asp) c.3464T>A (p.Val1155Asp) c.3455T>A (p.Val1152Asp) c.3431T>A (p.Val1144Asp) c.3425T>A (p.Val1142Asp) c.3398T>A (p.Val1133Asp) c.3392T>A (p.Val1131Asp) c.3386T>A (p.Val1129Asp) c.3347T>A (p.Val1116Asp) c.3335T>A (p.Val1112Asp) c.3278T>A (p.Val1093Asp) c.3254T>A (p.Val1085Asp) c.3248T>A (p.Val1083Asp) c.3230T>A (p.Val1077Asp) c.3176T>A (p.Val1059Asp) c.2483T>A (p.Val828Asp) c.2396T>A (p.Val799Asp) n.3672T>A | dbSNP |
17 | g.39727710T>C | CA399312866 | ERBB2 | c.3434T>C (p.Val1145Ala) c.3344T>C (p.Val1115Ala) c.2606T>C (p.Val869Ala) c.3389T>C (p.Val1130Ala) c.*3224T>C (n.*3224T>C) c.*13T>C (n.*13T>C) n.3758T>C c.3572T>C (p.Val1191Ala) c.3527T>C (p.Val1176Ala) c.3482T>C (p.Val1161Ala) c.3551T>C (p.Val1184Ala) c.3536T>C (p.Val1179Ala) c.3515T>C (p.Val1172Ala) c.3509T>C (p.Val1170Ala) c.3464T>C (p.Val1155Ala) c.3455T>C (p.Val1152Ala) c.3431T>C (p.Val1144Ala) c.3425T>C (p.Val1142Ala) c.3398T>C (p.Val1133Ala) c.3392T>C (p.Val1131Ala) c.3386T>C (p.Val1129Ala) c.3347T>C (p.Val1116Ala) c.3335T>C (p.Val1112Ala) c.3278T>C (p.Val1093Ala) c.3254T>C (p.Val1085Ala) c.3248T>C (p.Val1083Ala) c.3230T>C (p.Val1077Ala) c.3176T>C (p.Val1059Ala) c.2483T>C (p.Val828Ala) c.2396T>C (p.Val799Ala) n.3672T>C | dbSNP |
17 | g.39727710T>G | CA399312867 | ERBB2 | c.3434T>G (p.Val1145Gly) c.3344T>G (p.Val1115Gly) c.2606T>G (p.Val869Gly) c.3389T>G (p.Val1130Gly) c.*3224T>G (n.*3224T>G) c.*13T>G (n.*13T>G) n.3758T>G c.3572T>G (p.Val1191Gly) c.3527T>G (p.Val1176Gly) c.3482T>G (p.Val1161Gly) c.3551T>G (p.Val1184Gly) c.3536T>G (p.Val1179Gly) c.3515T>G (p.Val1172Gly) c.3509T>G (p.Val1170Gly) c.3464T>G (p.Val1155Gly) c.3455T>G (p.Val1152Gly) c.3431T>G (p.Val1144Gly) c.3425T>G (p.Val1142Gly) c.3398T>G (p.Val1133Gly) c.3392T>G (p.Val1131Gly) c.3386T>G (p.Val1129Gly) c.3347T>G (p.Val1116Gly) c.3335T>G (p.Val1112Gly) c.3278T>G (p.Val1093Gly) c.3254T>G (p.Val1085Gly) c.3248T>G (p.Val1083Gly) c.3230T>G (p.Val1077Gly) c.3176T>G (p.Val1059Gly) c.2483T>G (p.Val828Gly) c.2396T>G (p.Val799Gly) n.3672T>G | dbSNP gnomAD v4 |
17 | g.39727711T>A | CA499890491 | ERBB2 | c.3435T>A (p.Val1145=) c.3345T>A (p.Val1115=) c.2607T>A (p.Val869=) c.3390T>A (p.Val1130=) c.*3225T>A (n.*3225T>A) c.*14T>A (n.*14T>A) n.3759T>A c.3573T>A (p.Val1191=) c.3528T>A (p.Val1176=) c.3483T>A (p.Val1161=) c.3552T>A (p.Val1184=) c.3537T>A (p.Val1179=) c.3516T>A (p.Val1172=) c.3510T>A (p.Val1170=) c.3465T>A (p.Val1155=) c.3456T>A (p.Val1152=) c.3432T>A (p.Val1144=) c.3426T>A (p.Val1142=) c.3399T>A (p.Val1133=) c.3393T>A (p.Val1131=) c.3387T>A (p.Val1129=) c.3348T>A (p.Val1116=) c.3336T>A (p.Val1112=) c.3279T>A (p.Val1093=) c.3255T>A (p.Val1085=) c.3249T>A (p.Val1083=) c.3231T>A (p.Val1077=) c.3177T>A (p.Val1059=) c.2484T>A (p.Val828=) c.2397T>A (p.Val799=) n.3673T>A | dbSNP |
17 | g.39727711T>C | CA499890493 | ERBB2 | c.3435T>C (p.Val1145=) c.3345T>C (p.Val1115=) c.2607T>C (p.Val869=) c.3390T>C (p.Val1130=) c.*3225T>C (n.*3225T>C) c.*14T>C (n.*14T>C) n.3759T>C c.3573T>C (p.Val1191=) c.3528T>C (p.Val1176=) c.3483T>C (p.Val1161=) c.3552T>C (p.Val1184=) c.3537T>C (p.Val1179=) c.3516T>C (p.Val1172=) c.3510T>C (p.Val1170=) c.3465T>C (p.Val1155=) c.3456T>C (p.Val1152=) c.3432T>C (p.Val1144=) c.3426T>C (p.Val1142=) c.3399T>C (p.Val1133=) c.3393T>C (p.Val1131=) c.3387T>C (p.Val1129=) c.3348T>C (p.Val1116=) c.3336T>C (p.Val1112=) c.3279T>C (p.Val1093=) c.3255T>C (p.Val1085=) c.3249T>C (p.Val1083=) c.3231T>C (p.Val1077=) c.3177T>C (p.Val1059=) c.2484T>C (p.Val828=) c.2397T>C (p.Val799=) n.3673T>C | dbSNP |
17 | g.39727711T>G | CA499890492 | ERBB2 | c.3435T>G (p.Val1145=) c.3345T>G (p.Val1115=) c.2607T>G (p.Val869=) c.3390T>G (p.Val1130=) c.*3225T>G (n.*3225T>G) c.*14T>G (n.*14T>G) n.3759T>G c.3573T>G (p.Val1191=) c.3528T>G (p.Val1176=) c.3483T>G (p.Val1161=) c.3552T>G (p.Val1184=) c.3537T>G (p.Val1179=) c.3516T>G (p.Val1172=) c.3510T>G (p.Val1170=) c.3465T>G (p.Val1155=) c.3456T>G (p.Val1152=) c.3432T>G (p.Val1144=) c.3426T>G (p.Val1142=) c.3399T>G (p.Val1133=) c.3393T>G (p.Val1131=) c.3387T>G (p.Val1129=) c.3348T>G (p.Val1116=) c.3336T>G (p.Val1112=) c.3279T>G (p.Val1093=) c.3255T>G (p.Val1085=) c.3249T>G (p.Val1083=) c.3231T>G (p.Val1077=) c.3177T>G (p.Val1059=) c.2484T>G (p.Val828=) c.2397T>G (p.Val799=) n.3673T>G | dbSNP |
17 | g.39727712C>A | CA499890494 | ERBB2 | c.3436C>A (p.Arg1146=) c.3346C>A (p.Arg1116=) c.2608C>A (p.Arg870=) c.3391C>A (p.Arg1131=) c.*3226C>A (n.*3226C>A) c.*15C>A (n.*15C>A) n.3760C>A c.3574C>A (p.Arg1192=) c.3529C>A (p.Arg1177=) c.3484C>A (p.Arg1162=) c.3553C>A (p.Arg1185=) c.3538C>A (p.Arg1180=) c.3517C>A (p.Arg1173=) c.3511C>A (p.Arg1171=) c.3466C>A (p.Arg1156=) c.3457C>A (p.Arg1153=) c.3433C>A (p.Arg1145=) c.3427C>A (p.Arg1143=) c.3400C>A (p.Arg1134=) c.3394C>A (p.Arg1132=) c.3388C>A (p.Arg1130=) c.3349C>A (p.Arg1117=) c.3337C>A (p.Arg1113=) c.3280C>A (p.Arg1094=) c.3256C>A (p.Arg1086=) c.3250C>A (p.Arg1084=) c.3232C>A (p.Arg1078=) c.3178C>A (p.Arg1060=) c.2485C>A (p.Arg829=) c.2398C>A (p.Arg800=) n.3674C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727712C= | CA2259229226 | ERBB2 | c.3436C= (p.Arg1146=) c.3346C= (p.Arg1116=) c.2608C= (p.Arg870=) c.3391C= (p.Arg1131=) c.*3226C= (n.*3226C=) c.*15C= (n.*15C=) n.3760C= c.3574C= (p.Arg1192=) c.3529C= (p.Arg1177=) c.3484C= (p.Arg1162=) c.3553C= (p.Arg1185=) c.3538C= (p.Arg1180=) c.3517C= (p.Arg1173=) c.3511C= (p.Arg1171=) c.3466C= (p.Arg1156=) c.3457C= (p.Arg1153=) c.3433C= (p.Arg1145=) c.3427C= (p.Arg1143=) c.3400C= (p.Arg1134=) c.3394C= (p.Arg1132=) c.3388C= (p.Arg1130=) c.3349C= (p.Arg1117=) c.3337C= (p.Arg1113=) c.3280C= (p.Arg1094=) c.3256C= (p.Arg1086=) c.3250C= (p.Arg1084=) c.3232C= (p.Arg1078=) c.3178C= (p.Arg1060=) c.2485C= (p.Arg829=) c.2398C= (p.Arg800=) n.3674C= | |
17 | g.39727712C>G | CA399312868 | ERBB2 | c.3436C>G (p.Arg1146Gly) c.3346C>G (p.Arg1116Gly) c.2608C>G (p.Arg870Gly) c.3391C>G (p.Arg1131Gly) c.*3226C>G (n.*3226C>G) c.*15C>G (n.*15C>G) n.3760C>G c.3574C>G (p.Arg1192Gly) c.3529C>G (p.Arg1177Gly) c.3484C>G (p.Arg1162Gly) c.3553C>G (p.Arg1185Gly) c.3538C>G (p.Arg1180Gly) c.3517C>G (p.Arg1173Gly) c.3511C>G (p.Arg1171Gly) c.3466C>G (p.Arg1156Gly) c.3457C>G (p.Arg1153Gly) c.3433C>G (p.Arg1145Gly) c.3427C>G (p.Arg1143Gly) c.3400C>G (p.Arg1134Gly) c.3394C>G (p.Arg1132Gly) c.3388C>G (p.Arg1130Gly) c.3349C>G (p.Arg1117Gly) c.3337C>G (p.Arg1113Gly) c.3280C>G (p.Arg1094Gly) c.3256C>G (p.Arg1086Gly) c.3250C>G (p.Arg1084Gly) c.3232C>G (p.Arg1078Gly) c.3178C>G (p.Arg1060Gly) c.2485C>G (p.Arg829Gly) c.2398C>G (p.Arg800Gly) n.3674C>G | dbSNP |
17 | g.39727712C>T | CA8534560 | ERBB2 | c.3436C>T (p.Arg1146Trp) c.3346C>T (p.Arg1116Trp) c.2608C>T (p.Arg870Trp) c.3391C>T (p.Arg1131Trp) c.*3226C>T (n.*3226C>T) c.*15C>T (n.*15C>T) n.3760C>T c.3574C>T (p.Arg1192Trp) c.3529C>T (p.Arg1177Trp) c.3484C>T (p.Arg1162Trp) c.3553C>T (p.Arg1185Trp) c.3538C>T (p.Arg1180Trp) c.3517C>T (p.Arg1173Trp) c.3511C>T (p.Arg1171Trp) c.3466C>T (p.Arg1156Trp) c.3457C>T (p.Arg1153Trp) c.3433C>T (p.Arg1145Trp) c.3427C>T (p.Arg1143Trp) c.3400C>T (p.Arg1134Trp) c.3394C>T (p.Arg1132Trp) c.3388C>T (p.Arg1130Trp) c.3349C>T (p.Arg1117Trp) c.3337C>T (p.Arg1113Trp) c.3280C>T (p.Arg1094Trp) c.3256C>T (p.Arg1086Trp) c.3250C>T (p.Arg1084Trp) c.3232C>T (p.Arg1078Trp) c.3178C>T (p.Arg1060Trp) c.2485C>T (p.Arg829Trp) c.2398C>T (p.Arg800Trp) n.3674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727713G>A | CA8534561 | ERBB2 | c.3437G>A (p.Arg1146Gln) c.3347G>A (p.Arg1116Gln) c.2609G>A (p.Arg870Gln) c.3392G>A (p.Arg1131Gln) c.*3227G>A (n.*3227G>A) c.*16G>A (n.*16G>A) n.3761G>A c.3575G>A (p.Arg1192Gln) c.3530G>A (p.Arg1177Gln) c.3485G>A (p.Arg1162Gln) c.3554G>A (p.Arg1185Gln) c.3539G>A (p.Arg1180Gln) c.3518G>A (p.Arg1173Gln) c.3512G>A (p.Arg1171Gln) c.3467G>A (p.Arg1156Gln) c.3458G>A (p.Arg1153Gln) c.3434G>A (p.Arg1145Gln) c.3428G>A (p.Arg1143Gln) c.3401G>A (p.Arg1134Gln) c.3395G>A (p.Arg1132Gln) c.3389G>A (p.Arg1130Gln) c.3350G>A (p.Arg1117Gln) c.3338G>A (p.Arg1113Gln) c.3281G>A (p.Arg1094Gln) c.3257G>A (p.Arg1086Gln) c.3251G>A (p.Arg1084Gln) c.3233G>A (p.Arg1078Gln) c.3179G>A (p.Arg1060Gln) c.2486G>A (p.Arg829Gln) c.2399G>A (p.Arg800Gln) n.3675G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727713G>C | CA399312869 | ERBB2 | c.3437G>C (p.Arg1146Pro) c.3347G>C (p.Arg1116Pro) c.2609G>C (p.Arg870Pro) c.3392G>C (p.Arg1131Pro) c.*3227G>C (n.*3227G>C) c.*16G>C (n.*16G>C) n.3761G>C c.3575G>C (p.Arg1192Pro) c.3530G>C (p.Arg1177Pro) c.3485G>C (p.Arg1162Pro) c.3554G>C (p.Arg1185Pro) c.3539G>C (p.Arg1180Pro) c.3518G>C (p.Arg1173Pro) c.3512G>C (p.Arg1171Pro) c.3467G>C (p.Arg1156Pro) c.3458G>C (p.Arg1153Pro) c.3434G>C (p.Arg1145Pro) c.3428G>C (p.Arg1143Pro) c.3401G>C (p.Arg1134Pro) c.3395G>C (p.Arg1132Pro) c.3389G>C (p.Arg1130Pro) c.3350G>C (p.Arg1117Pro) c.3338G>C (p.Arg1113Pro) c.3281G>C (p.Arg1094Pro) c.3257G>C (p.Arg1086Pro) c.3251G>C (p.Arg1084Pro) c.3233G>C (p.Arg1078Pro) c.3179G>C (p.Arg1060Pro) c.2486G>C (p.Arg829Pro) c.2399G>C (p.Arg800Pro) n.3675G>C | dbSNP |
17 | g.39727713G= | CA2259229227 | ERBB2 | c.3437G= (p.Arg1146=) c.3347G= (p.Arg1116=) c.2609G= (p.Arg870=) c.3392G= (p.Arg1131=) c.*3227G= (n.*3227G=) c.*16G= (n.*16G=) n.3761G= c.3575G= (p.Arg1192=) c.3530G= (p.Arg1177=) c.3485G= (p.Arg1162=) c.3554G= (p.Arg1185=) c.3539G= (p.Arg1180=) c.3518G= (p.Arg1173=) c.3512G= (p.Arg1171=) c.3467G= (p.Arg1156=) c.3458G= (p.Arg1153=) c.3434G= (p.Arg1145=) c.3428G= (p.Arg1143=) c.3401G= (p.Arg1134=) c.3395G= (p.Arg1132=) c.3389G= (p.Arg1130=) c.3350G= (p.Arg1117=) c.3338G= (p.Arg1113=) c.3281G= (p.Arg1094=) c.3257G= (p.Arg1086=) c.3251G= (p.Arg1084=) c.3233G= (p.Arg1078=) c.3179G= (p.Arg1060=) c.2486G= (p.Arg829=) c.2399G= (p.Arg800=) n.3675G= | |
17 | g.39727713G>T | CA399312870 | ERBB2 | c.3437G>T (p.Arg1146Leu) c.3347G>T (p.Arg1116Leu) c.2609G>T (p.Arg870Leu) c.3392G>T (p.Arg1131Leu) c.*3227G>T (n.*3227G>T) c.*16G>T (n.*16G>T) n.3761G>T c.3575G>T (p.Arg1192Leu) c.3530G>T (p.Arg1177Leu) c.3485G>T (p.Arg1162Leu) c.3554G>T (p.Arg1185Leu) c.3539G>T (p.Arg1180Leu) c.3518G>T (p.Arg1173Leu) c.3512G>T (p.Arg1171Leu) c.3467G>T (p.Arg1156Leu) c.3458G>T (p.Arg1153Leu) c.3434G>T (p.Arg1145Leu) c.3428G>T (p.Arg1143Leu) c.3401G>T (p.Arg1134Leu) c.3395G>T (p.Arg1132Leu) c.3389G>T (p.Arg1130Leu) c.3350G>T (p.Arg1117Leu) c.3338G>T (p.Arg1113Leu) c.3281G>T (p.Arg1094Leu) c.3257G>T (p.Arg1086Leu) c.3251G>T (p.Arg1084Leu) c.3233G>T (p.Arg1078Leu) c.3179G>T (p.Arg1060Leu) c.2486G>T (p.Arg829Leu) c.2399G>T (p.Arg800Leu) n.3675G>T | dbSNP |
17 | g.39727714G>A | CA290443738 | ERBB2 | c.3438G>A (p.Arg1146=) c.3348G>A (p.Arg1116=) c.2610G>A (p.Arg870=) c.3393G>A (p.Arg1131=) c.*3228G>A (n.*3228G>A) c.*17G>A (n.*17G>A) n.3762G>A c.3576G>A (p.Arg1192=) c.3531G>A (p.Arg1177=) c.3486G>A (p.Arg1162=) c.3555G>A (p.Arg1185=) c.3540G>A (p.Arg1180=) c.3519G>A (p.Arg1173=) c.3513G>A (p.Arg1171=) c.3468G>A (p.Arg1156=) c.3459G>A (p.Arg1153=) c.3435G>A (p.Arg1145=) c.3429G>A (p.Arg1143=) c.3402G>A (p.Arg1134=) c.3396G>A (p.Arg1132=) c.3390G>A (p.Arg1130=) c.3351G>A (p.Arg1117=) c.3339G>A (p.Arg1113=) c.3282G>A (p.Arg1094=) c.3258G>A (p.Arg1086=) c.3252G>A (p.Arg1084=) c.3234G>A (p.Arg1078=) c.3180G>A (p.Arg1060=) c.2487G>A (p.Arg829=) c.2400G>A (p.Arg800=) n.3676G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727714G>C | CA499890500 | ERBB2 | c.3438G>C (p.Arg1146=) c.3348G>C (p.Arg1116=) c.2610G>C (p.Arg870=) c.3393G>C (p.Arg1131=) c.*3228G>C (n.*3228G>C) c.*17G>C (n.*17G>C) n.3762G>C c.3576G>C (p.Arg1192=) c.3531G>C (p.Arg1177=) c.3486G>C (p.Arg1162=) c.3555G>C (p.Arg1185=) c.3540G>C (p.Arg1180=) c.3519G>C (p.Arg1173=) c.3513G>C (p.Arg1171=) c.3468G>C (p.Arg1156=) c.3459G>C (p.Arg1153=) c.3435G>C (p.Arg1145=) c.3429G>C (p.Arg1143=) c.3402G>C (p.Arg1134=) c.3396G>C (p.Arg1132=) c.3390G>C (p.Arg1130=) c.3351G>C (p.Arg1117=) c.3339G>C (p.Arg1113=) c.3282G>C (p.Arg1094=) c.3258G>C (p.Arg1086=) c.3252G>C (p.Arg1084=) c.3234G>C (p.Arg1078=) c.3180G>C (p.Arg1060=) c.2487G>C (p.Arg829=) c.2400G>C (p.Arg800=) n.3676G>C | |
17 | g.39727714G= | CA2259229228 | ERBB2 | c.3438G= (p.Arg1146=) c.3348G= (p.Arg1116=) c.2610G= (p.Arg870=) c.3393G= (p.Arg1131=) c.*3228G= (n.*3228G=) c.*17G= (n.*17G=) n.3762G= c.3576G= (p.Arg1192=) c.3531G= (p.Arg1177=) c.3486G= (p.Arg1162=) c.3555G= (p.Arg1185=) c.3540G= (p.Arg1180=) c.3519G= (p.Arg1173=) c.3513G= (p.Arg1171=) c.3468G= (p.Arg1156=) c.3459G= (p.Arg1153=) c.3435G= (p.Arg1145=) c.3429G= (p.Arg1143=) c.3402G= (p.Arg1134=) c.3396G= (p.Arg1132=) c.3390G= (p.Arg1130=) c.3351G= (p.Arg1117=) c.3339G= (p.Arg1113=) c.3282G= (p.Arg1094=) c.3258G= (p.Arg1086=) c.3252G= (p.Arg1084=) c.3234G= (p.Arg1078=) c.3180G= (p.Arg1060=) c.2487G= (p.Arg829=) c.2400G= (p.Arg800=) n.3676G= | |
17 | g.39727714G>T | CA499890501 | ERBB2 | c.3438G>T (p.Arg1146=) c.3348G>T (p.Arg1116=) c.2610G>T (p.Arg870=) c.3393G>T (p.Arg1131=) c.*3228G>T (n.*3228G>T) c.*17G>T (n.*17G>T) n.3762G>T c.3576G>T (p.Arg1192=) c.3531G>T (p.Arg1177=) c.3486G>T (p.Arg1162=) c.3555G>T (p.Arg1185=) c.3540G>T (p.Arg1180=) c.3519G>T (p.Arg1173=) c.3513G>T (p.Arg1171=) c.3468G>T (p.Arg1156=) c.3459G>T (p.Arg1153=) c.3435G>T (p.Arg1145=) c.3429G>T (p.Arg1143=) c.3402G>T (p.Arg1134=) c.3396G>T (p.Arg1132=) c.3390G>T (p.Arg1130=) c.3351G>T (p.Arg1117=) c.3339G>T (p.Arg1113=) c.3282G>T (p.Arg1094=) c.3258G>T (p.Arg1086=) c.3252G>T (p.Arg1084=) c.3234G>T (p.Arg1078=) c.3180G>T (p.Arg1060=) c.2487G>T (p.Arg829=) c.2400G>T (p.Arg800=) n.3676G>T | |
17 | g.39727715C>A | CA399312871 | ERBB2 | c.3439C>A (p.Pro1147Thr) c.3349C>A (p.Pro1117Thr) c.2611C>A (p.Pro871Thr) c.3394C>A (p.Pro1132Thr) c.*3229C>A (n.*3229C>A) c.*18C>A (n.*18C>A) n.3763C>A c.3577C>A (p.Pro1193Thr) c.3532C>A (p.Pro1178Thr) c.3487C>A (p.Pro1163Thr) c.3556C>A (p.Pro1186Thr) c.3541C>A (p.Pro1181Thr) c.3520C>A (p.Pro1174Thr) c.3514C>A (p.Pro1172Thr) c.3469C>A (p.Pro1157Thr) c.3460C>A (p.Pro1154Thr) c.3436C>A (p.Pro1146Thr) c.3430C>A (p.Pro1144Thr) c.3403C>A (p.Pro1135Thr) c.3397C>A (p.Pro1133Thr) c.3391C>A (p.Pro1131Thr) c.3352C>A (p.Pro1118Thr) c.3340C>A (p.Pro1114Thr) c.3283C>A (p.Pro1095Thr) c.3259C>A (p.Pro1087Thr) c.3253C>A (p.Pro1085Thr) c.3235C>A (p.Pro1079Thr) c.3181C>A (p.Pro1061Thr) c.2488C>A (p.Pro830Thr) c.2401C>A (p.Pro801Thr) n.3677C>A | dbSNP |
17 | g.39727715C>G | CA399312872 | ERBB2 | c.3439C>G (p.Pro1147Ala) c.3349C>G (p.Pro1117Ala) c.2611C>G (p.Pro871Ala) c.3394C>G (p.Pro1132Ala) c.*3229C>G (n.*3229C>G) c.*18C>G (n.*18C>G) n.3763C>G c.3577C>G (p.Pro1193Ala) c.3532C>G (p.Pro1178Ala) c.3487C>G (p.Pro1163Ala) c.3556C>G (p.Pro1186Ala) c.3541C>G (p.Pro1181Ala) c.3520C>G (p.Pro1174Ala) c.3514C>G (p.Pro1172Ala) c.3469C>G (p.Pro1157Ala) c.3460C>G (p.Pro1154Ala) c.3436C>G (p.Pro1146Ala) c.3430C>G (p.Pro1144Ala) c.3403C>G (p.Pro1135Ala) c.3397C>G (p.Pro1133Ala) c.3391C>G (p.Pro1131Ala) c.3352C>G (p.Pro1118Ala) c.3340C>G (p.Pro1114Ala) c.3283C>G (p.Pro1095Ala) c.3259C>G (p.Pro1087Ala) c.3253C>G (p.Pro1085Ala) c.3235C>G (p.Pro1079Ala) c.3181C>G (p.Pro1061Ala) c.2488C>G (p.Pro830Ala) c.2401C>G (p.Pro801Ala) n.3677C>G | dbSNP |
17 | g.39727715C>T | CA399312873 | ERBB2 | c.3439C>T (p.Pro1147Ser) c.3349C>T (p.Pro1117Ser) c.2611C>T (p.Pro871Ser) c.3394C>T (p.Pro1132Ser) c.*3229C>T (n.*3229C>T) c.*18C>T (n.*18C>T) n.3763C>T c.3577C>T (p.Pro1193Ser) c.3532C>T (p.Pro1178Ser) c.3487C>T (p.Pro1163Ser) c.3556C>T (p.Pro1186Ser) c.3541C>T (p.Pro1181Ser) c.3520C>T (p.Pro1174Ser) c.3514C>T (p.Pro1172Ser) c.3469C>T (p.Pro1157Ser) c.3460C>T (p.Pro1154Ser) c.3436C>T (p.Pro1146Ser) c.3430C>T (p.Pro1144Ser) c.3403C>T (p.Pro1135Ser) c.3397C>T (p.Pro1133Ser) c.3391C>T (p.Pro1131Ser) c.3352C>T (p.Pro1118Ser) c.3340C>T (p.Pro1114Ser) c.3283C>T (p.Pro1095Ser) c.3259C>T (p.Pro1087Ser) c.3253C>T (p.Pro1085Ser) c.3235C>T (p.Pro1079Ser) c.3181C>T (p.Pro1061Ser) c.2488C>T (p.Pro830Ser) c.2401C>T (p.Pro801Ser) n.3677C>T | dbSNP gnomAD v4 |
17 | g.39727716C>A | CA399312875 | ERBB2 | c.3440C>A (p.Pro1147His) c.3350C>A (p.Pro1117His) c.2612C>A (p.Pro871His) c.3395C>A (p.Pro1132His) c.*3230C>A (n.*3230C>A) c.*19C>A (n.*19C>A) n.3764C>A c.3578C>A (p.Pro1193His) c.3533C>A (p.Pro1178His) c.3488C>A (p.Pro1163His) c.3557C>A (p.Pro1186His) c.3542C>A (p.Pro1181His) c.3521C>A (p.Pro1174His) c.3515C>A (p.Pro1172His) c.3470C>A (p.Pro1157His) c.3461C>A (p.Pro1154His) c.3437C>A (p.Pro1146His) c.3431C>A (p.Pro1144His) c.3404C>A (p.Pro1135His) c.3398C>A (p.Pro1133His) c.3392C>A (p.Pro1131His) c.3353C>A (p.Pro1118His) c.3341C>A (p.Pro1114His) c.3284C>A (p.Pro1095His) c.3260C>A (p.Pro1087His) c.3254C>A (p.Pro1085His) c.3236C>A (p.Pro1079His) c.3182C>A (p.Pro1061His) c.2489C>A (p.Pro830His) c.2402C>A (p.Pro801His) n.3678C>A | dbSNP gnomAD v4 |
17 | g.39727716C>G | CA399312876 | ERBB2 | c.3440C>G (p.Pro1147Arg) c.3350C>G (p.Pro1117Arg) c.2612C>G (p.Pro871Arg) c.3395C>G (p.Pro1132Arg) c.*3230C>G (n.*3230C>G) c.*19C>G (n.*19C>G) n.3764C>G c.3578C>G (p.Pro1193Arg) c.3533C>G (p.Pro1178Arg) c.3488C>G (p.Pro1163Arg) c.3557C>G (p.Pro1186Arg) c.3542C>G (p.Pro1181Arg) c.3521C>G (p.Pro1174Arg) c.3515C>G (p.Pro1172Arg) c.3470C>G (p.Pro1157Arg) c.3461C>G (p.Pro1154Arg) c.3437C>G (p.Pro1146Arg) c.3431C>G (p.Pro1144Arg) c.3404C>G (p.Pro1135Arg) c.3398C>G (p.Pro1133Arg) c.3392C>G (p.Pro1131Arg) c.3353C>G (p.Pro1118Arg) c.3341C>G (p.Pro1114Arg) c.3284C>G (p.Pro1095Arg) c.3260C>G (p.Pro1087Arg) c.3254C>G (p.Pro1085Arg) c.3236C>G (p.Pro1079Arg) c.3182C>G (p.Pro1061Arg) c.2489C>G (p.Pro830Arg) c.2402C>G (p.Pro801Arg) n.3678C>G | dbSNP |
17 | g.39727716C>T | CA399312874 | ERBB2 | c.3440C>T (p.Pro1147Leu) c.3350C>T (p.Pro1117Leu) c.2612C>T (p.Pro871Leu) c.3395C>T (p.Pro1132Leu) c.*3230C>T (n.*3230C>T) c.*19C>T (n.*19C>T) n.3764C>T c.3578C>T (p.Pro1193Leu) c.3533C>T (p.Pro1178Leu) c.3488C>T (p.Pro1163Leu) c.3557C>T (p.Pro1186Leu) c.3542C>T (p.Pro1181Leu) c.3521C>T (p.Pro1174Leu) c.3515C>T (p.Pro1172Leu) c.3470C>T (p.Pro1157Leu) c.3461C>T (p.Pro1154Leu) c.3437C>T (p.Pro1146Leu) c.3431C>T (p.Pro1144Leu) c.3404C>T (p.Pro1135Leu) c.3398C>T (p.Pro1133Leu) c.3392C>T (p.Pro1131Leu) c.3353C>T (p.Pro1118Leu) c.3341C>T (p.Pro1114Leu) c.3284C>T (p.Pro1095Leu) c.3260C>T (p.Pro1087Leu) c.3254C>T (p.Pro1085Leu) c.3236C>T (p.Pro1079Leu) c.3182C>T (p.Pro1061Leu) c.2489C>T (p.Pro830Leu) c.2402C>T (p.Pro801Leu) n.3678C>T | dbSNP |
17 | g.39727717C>A | CA290443751 | ERBB2 | c.3441C>A (p.Pro1147=) c.3351C>A (p.Pro1117=) c.2613C>A (p.Pro871=) c.3396C>A (p.Pro1132=) c.*3231C>A (n.*3231C>A) c.*20C>A (n.*20C>A) n.3765C>A c.3579C>A (p.Pro1193=) c.3534C>A (p.Pro1178=) c.3489C>A (p.Pro1163=) c.3558C>A (p.Pro1186=) c.3543C>A (p.Pro1181=) c.3522C>A (p.Pro1174=) c.3516C>A (p.Pro1172=) c.3471C>A (p.Pro1157=) c.3462C>A (p.Pro1154=) c.3438C>A (p.Pro1146=) c.3432C>A (p.Pro1144=) c.3405C>A (p.Pro1135=) c.3399C>A (p.Pro1133=) c.3393C>A (p.Pro1131=) c.3354C>A (p.Pro1118=) c.3342C>A (p.Pro1114=) c.3285C>A (p.Pro1095=) c.3261C>A (p.Pro1087=) c.3255C>A (p.Pro1085=) c.3237C>A (p.Pro1079=) c.3183C>A (p.Pro1061=) c.2490C>A (p.Pro830=) c.2403C>A (p.Pro801=) n.3679C>A | dbSNP gnomAD v4 |
17 | g.39727717C= | CA2259229229 | ERBB2 | c.3441C= (p.Pro1147=) c.3351C= (p.Pro1117=) c.2613C= (p.Pro871=) c.3396C= (p.Pro1132=) c.*3231C= (n.*3231C=) c.*20C= (n.*20C=) n.3765C= c.3579C= (p.Pro1193=) c.3534C= (p.Pro1178=) c.3489C= (p.Pro1163=) c.3558C= (p.Pro1186=) c.3543C= (p.Pro1181=) c.3522C= (p.Pro1174=) c.3516C= (p.Pro1172=) c.3471C= (p.Pro1157=) c.3462C= (p.Pro1154=) c.3438C= (p.Pro1146=) c.3432C= (p.Pro1144=) c.3405C= (p.Pro1135=) c.3399C= (p.Pro1133=) c.3393C= (p.Pro1131=) c.3354C= (p.Pro1118=) c.3342C= (p.Pro1114=) c.3285C= (p.Pro1095=) c.3261C= (p.Pro1087=) c.3255C= (p.Pro1085=) c.3237C= (p.Pro1079=) c.3183C= (p.Pro1061=) c.2490C= (p.Pro830=) c.2403C= (p.Pro801=) n.3679C= | |
17 | g.39727717C>G | CA499890507 | ERBB2 | c.3441C>G (p.Pro1147=) c.3351C>G (p.Pro1117=) c.2613C>G (p.Pro871=) c.3396C>G (p.Pro1132=) c.*3231C>G (n.*3231C>G) c.*20C>G (n.*20C>G) n.3765C>G c.3579C>G (p.Pro1193=) c.3534C>G (p.Pro1178=) c.3489C>G (p.Pro1163=) c.3558C>G (p.Pro1186=) c.3543C>G (p.Pro1181=) c.3522C>G (p.Pro1174=) c.3516C>G (p.Pro1172=) c.3471C>G (p.Pro1157=) c.3462C>G (p.Pro1154=) c.3438C>G (p.Pro1146=) c.3432C>G (p.Pro1144=) c.3405C>G (p.Pro1135=) c.3399C>G (p.Pro1133=) c.3393C>G (p.Pro1131=) c.3354C>G (p.Pro1118=) c.3342C>G (p.Pro1114=) c.3285C>G (p.Pro1095=) c.3261C>G (p.Pro1087=) c.3255C>G (p.Pro1085=) c.3237C>G (p.Pro1079=) c.3183C>G (p.Pro1061=) c.2490C>G (p.Pro830=) c.2403C>G (p.Pro801=) n.3679C>G | dbSNP gnomAD v4 |
17 | g.39727717C>T | CA8534562 | ERBB2 | c.3441C>T (p.Pro1147=) c.3351C>T (p.Pro1117=) c.2613C>T (p.Pro871=) c.3396C>T (p.Pro1132=) c.*3231C>T (n.*3231C>T) c.*20C>T (n.*20C>T) n.3765C>T c.3579C>T (p.Pro1193=) c.3534C>T (p.Pro1178=) c.3489C>T (p.Pro1163=) c.3558C>T (p.Pro1186=) c.3543C>T (p.Pro1181=) c.3522C>T (p.Pro1174=) c.3516C>T (p.Pro1172=) c.3471C>T (p.Pro1157=) c.3462C>T (p.Pro1154=) c.3438C>T (p.Pro1146=) c.3432C>T (p.Pro1144=) c.3405C>T (p.Pro1135=) c.3399C>T (p.Pro1133=) c.3393C>T (p.Pro1131=) c.3354C>T (p.Pro1118=) c.3342C>T (p.Pro1114=) c.3285C>T (p.Pro1095=) c.3261C>T (p.Pro1087=) c.3255C>T (p.Pro1085=) c.3237C>T (p.Pro1079=) c.3183C>T (p.Pro1061=) c.2490C>T (p.Pro830=) c.2403C>T (p.Pro801=) n.3679C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727718C>A | CA399312877 | ERBB2 | c.3442C>A (p.Gln1148Lys) c.3352C>A (p.Gln1118Lys) c.2614C>A (p.Gln872Lys) c.3397C>A (p.Gln1133Lys) c.*3232C>A (n.*3232C>A) c.*21C>A (n.*21C>A) n.3766C>A c.3580C>A (p.Gln1194Lys) c.3535C>A (p.Gln1179Lys) c.3490C>A (p.Gln1164Lys) c.3559C>A (p.Gln1187Lys) c.3544C>A (p.Gln1182Lys) c.3523C>A (p.Gln1175Lys) c.3517C>A (p.Gln1173Lys) c.3472C>A (p.Gln1158Lys) c.3463C>A (p.Gln1155Lys) c.3439C>A (p.Gln1147Lys) c.3433C>A (p.Gln1145Lys) c.3406C>A (p.Gln1136Lys) c.3400C>A (p.Gln1134Lys) c.3394C>A (p.Gln1132Lys) c.3355C>A (p.Gln1119Lys) c.3343C>A (p.Gln1115Lys) c.3286C>A (p.Gln1096Lys) c.3262C>A (p.Gln1088Lys) c.3256C>A (p.Gln1086Lys) c.3238C>A (p.Gln1080Lys) c.3184C>A (p.Gln1062Lys) c.2491C>A (p.Gln831Lys) c.2404C>A (p.Gln802Lys) n.3680C>A | gnomAD v4 |
17 | g.39727718C>G | CA399312881 | ERBB2 | c.3442C>G (p.Gln1148Glu) c.3352C>G (p.Gln1118Glu) c.2614C>G (p.Gln872Glu) c.3397C>G (p.Gln1133Glu) c.*3232C>G (n.*3232C>G) c.*21C>G (n.*21C>G) n.3766C>G c.3580C>G (p.Gln1194Glu) c.3535C>G (p.Gln1179Glu) c.3490C>G (p.Gln1164Glu) c.3559C>G (p.Gln1187Glu) c.3544C>G (p.Gln1182Glu) c.3523C>G (p.Gln1175Glu) c.3517C>G (p.Gln1173Glu) c.3472C>G (p.Gln1158Glu) c.3463C>G (p.Gln1155Glu) c.3439C>G (p.Gln1147Glu) c.3433C>G (p.Gln1145Glu) c.3406C>G (p.Gln1136Glu) c.3400C>G (p.Gln1134Glu) c.3394C>G (p.Gln1132Glu) c.3355C>G (p.Gln1119Glu) c.3343C>G (p.Gln1115Glu) c.3286C>G (p.Gln1096Glu) c.3262C>G (p.Gln1088Glu) c.3256C>G (p.Gln1086Glu) c.3238C>G (p.Gln1080Glu) c.3184C>G (p.Gln1062Glu) c.2491C>G (p.Gln831Glu) c.2404C>G (p.Gln802Glu) n.3680C>G | dbSNP |
17 | g.39727718C>T | CA399312878 | ERBB2 | c.3442C>T (p.Gln1148Ter) c.3352C>T (p.Gln1118Ter) c.2614C>T (p.Gln872Ter) c.3397C>T (p.Gln1133Ter) c.*3232C>T (n.*3232C>T) c.*21C>T (n.*21C>T) n.3766C>T c.3580C>T (p.Gln1194Ter) c.3535C>T (p.Gln1179Ter) c.3490C>T (p.Gln1164Ter) c.3559C>T (p.Gln1187Ter) c.3544C>T (p.Gln1182Ter) c.3523C>T (p.Gln1175Ter) c.3517C>T (p.Gln1173Ter) c.3472C>T (p.Gln1158Ter) c.3463C>T (p.Gln1155Ter) c.3439C>T (p.Gln1147Ter) c.3433C>T (p.Gln1145Ter) c.3406C>T (p.Gln1136Ter) c.3400C>T (p.Gln1134Ter) c.3394C>T (p.Gln1132Ter) c.3355C>T (p.Gln1119Ter) c.3343C>T (p.Gln1115Ter) c.3286C>T (p.Gln1096Ter) c.3262C>T (p.Gln1088Ter) c.3256C>T (p.Gln1086Ter) c.3238C>T (p.Gln1080Ter) c.3184C>T (p.Gln1062Ter) c.2491C>T (p.Gln831Ter) c.2404C>T (p.Gln802Ter) n.3680C>T | dbSNP gnomAD v4 |
17 | g.39727719A>C | CA399312882 | ERBB2 | c.3443A>C (p.Gln1148Pro) c.3353A>C (p.Gln1118Pro) c.2615A>C (p.Gln872Pro) c.3398A>C (p.Gln1133Pro) c.*3233A>C (n.*3233A>C) c.*22A>C (n.*22A>C) n.3767A>C c.3581A>C (p.Gln1194Pro) c.3536A>C (p.Gln1179Pro) c.3491A>C (p.Gln1164Pro) c.3560A>C (p.Gln1187Pro) c.3545A>C (p.Gln1182Pro) c.3524A>C (p.Gln1175Pro) c.3518A>C (p.Gln1173Pro) c.3473A>C (p.Gln1158Pro) c.3464A>C (p.Gln1155Pro) c.3440A>C (p.Gln1147Pro) c.3434A>C (p.Gln1145Pro) c.3407A>C (p.Gln1136Pro) c.3401A>C (p.Gln1134Pro) c.3395A>C (p.Gln1132Pro) c.3356A>C (p.Gln1119Pro) c.3344A>C (p.Gln1115Pro) c.3287A>C (p.Gln1096Pro) c.3263A>C (p.Gln1088Pro) c.3257A>C (p.Gln1086Pro) c.3239A>C (p.Gln1080Pro) c.3185A>C (p.Gln1062Pro) c.2492A>C (p.Gln831Pro) c.2405A>C (p.Gln802Pro) n.3681A>C | dbSNP |
17 | g.39727719A>G | CA399312883 | ERBB2 | c.3443A>G (p.Gln1148Arg) c.3353A>G (p.Gln1118Arg) c.2615A>G (p.Gln872Arg) c.3398A>G (p.Gln1133Arg) c.*3233A>G (n.*3233A>G) c.*22A>G (n.*22A>G) n.3767A>G c.3581A>G (p.Gln1194Arg) c.3536A>G (p.Gln1179Arg) c.3491A>G (p.Gln1164Arg) c.3560A>G (p.Gln1187Arg) c.3545A>G (p.Gln1182Arg) c.3524A>G (p.Gln1175Arg) c.3518A>G (p.Gln1173Arg) c.3473A>G (p.Gln1158Arg) c.3464A>G (p.Gln1155Arg) c.3440A>G (p.Gln1147Arg) c.3434A>G (p.Gln1145Arg) c.3407A>G (p.Gln1136Arg) c.3401A>G (p.Gln1134Arg) c.3395A>G (p.Gln1132Arg) c.3356A>G (p.Gln1119Arg) c.3344A>G (p.Gln1115Arg) c.3287A>G (p.Gln1096Arg) c.3263A>G (p.Gln1088Arg) c.3257A>G (p.Gln1086Arg) c.3239A>G (p.Gln1080Arg) c.3185A>G (p.Gln1062Arg) c.2492A>G (p.Gln831Arg) c.2405A>G (p.Gln802Arg) n.3681A>G | dbSNP |
17 | g.39727719A>T | CA399312884 | ERBB2 | c.3443A>T (p.Gln1148Leu) c.3353A>T (p.Gln1118Leu) c.2615A>T (p.Gln872Leu) c.3398A>T (p.Gln1133Leu) c.*3233A>T (n.*3233A>T) c.*22A>T (n.*22A>T) n.3767A>T c.3581A>T (p.Gln1194Leu) c.3536A>T (p.Gln1179Leu) c.3491A>T (p.Gln1164Leu) c.3560A>T (p.Gln1187Leu) c.3545A>T (p.Gln1182Leu) c.3524A>T (p.Gln1175Leu) c.3518A>T (p.Gln1173Leu) c.3473A>T (p.Gln1158Leu) c.3464A>T (p.Gln1155Leu) c.3440A>T (p.Gln1147Leu) c.3434A>T (p.Gln1145Leu) c.3407A>T (p.Gln1136Leu) c.3401A>T (p.Gln1134Leu) c.3395A>T (p.Gln1132Leu) c.3356A>T (p.Gln1119Leu) c.3344A>T (p.Gln1115Leu) c.3287A>T (p.Gln1096Leu) c.3263A>T (p.Gln1088Leu) c.3257A>T (p.Gln1086Leu) c.3239A>T (p.Gln1080Leu) c.3185A>T (p.Gln1062Leu) c.2492A>T (p.Gln831Leu) c.2405A>T (p.Gln802Leu) n.3681A>T | dbSNP |
17 | g.39727720G>A | CA499890514 | ERBB2 | c.3444G>A (p.Gln1148=) c.3354G>A (p.Gln1118=) c.2616G>A (p.Gln872=) c.3399G>A (p.Gln1133=) c.*3234G>A (n.*3234G>A) c.*23G>A (n.*23G>A) n.3768G>A c.3582G>A (p.Gln1194=) c.3537G>A (p.Gln1179=) c.3492G>A (p.Gln1164=) c.3561G>A (p.Gln1187=) c.3546G>A (p.Gln1182=) c.3525G>A (p.Gln1175=) c.3519G>A (p.Gln1173=) c.3474G>A (p.Gln1158=) c.3465G>A (p.Gln1155=) c.3441G>A (p.Gln1147=) c.3435G>A (p.Gln1145=) c.3408G>A (p.Gln1136=) c.3402G>A (p.Gln1134=) c.3396G>A (p.Gln1132=) c.3357G>A (p.Gln1119=) c.3345G>A (p.Gln1115=) c.3288G>A (p.Gln1096=) c.3264G>A (p.Gln1088=) c.3258G>A (p.Gln1086=) c.3240G>A (p.Gln1080=) c.3186G>A (p.Gln1062=) c.2493G>A (p.Gln831=) c.2406G>A (p.Gln802=) n.3682G>A | gnomAD v4 |
17 | g.39727720G>C | CA399312885 | ERBB2 | c.3444G>C (p.Gln1148His) c.3354G>C (p.Gln1118His) c.2616G>C (p.Gln872His) c.3399G>C (p.Gln1133His) c.*3234G>C (n.*3234G>C) c.*23G>C (n.*23G>C) n.3768G>C c.3582G>C (p.Gln1194His) c.3537G>C (p.Gln1179His) c.3492G>C (p.Gln1164His) c.3561G>C (p.Gln1187His) c.3546G>C (p.Gln1182His) c.3525G>C (p.Gln1175His) c.3519G>C (p.Gln1173His) c.3474G>C (p.Gln1158His) c.3465G>C (p.Gln1155His) c.3441G>C (p.Gln1147His) c.3435G>C (p.Gln1145His) c.3408G>C (p.Gln1136His) c.3402G>C (p.Gln1134His) c.3396G>C (p.Gln1132His) c.3357G>C (p.Gln1119His) c.3345G>C (p.Gln1115His) c.3288G>C (p.Gln1096His) c.3264G>C (p.Gln1088His) c.3258G>C (p.Gln1086His) c.3240G>C (p.Gln1080His) c.3186G>C (p.Gln1062His) c.2493G>C (p.Gln831His) c.2406G>C (p.Gln802His) n.3682G>C | gnomAD v4 |
17 | g.39727720G>T | CA399312886 | ERBB2 | c.3444G>T (p.Gln1148His) c.3354G>T (p.Gln1118His) c.2616G>T (p.Gln872His) c.3399G>T (p.Gln1133His) c.*3234G>T (n.*3234G>T) c.*23G>T (n.*23G>T) n.3768G>T c.3582G>T (p.Gln1194His) c.3537G>T (p.Gln1179His) c.3492G>T (p.Gln1164His) c.3561G>T (p.Gln1187His) c.3546G>T (p.Gln1182His) c.3525G>T (p.Gln1175His) c.3519G>T (p.Gln1173His) c.3474G>T (p.Gln1158His) c.3465G>T (p.Gln1155His) c.3441G>T (p.Gln1147His) c.3435G>T (p.Gln1145His) c.3408G>T (p.Gln1136His) c.3402G>T (p.Gln1134His) c.3396G>T (p.Gln1132His) c.3357G>T (p.Gln1119His) c.3345G>T (p.Gln1115His) c.3288G>T (p.Gln1096His) c.3264G>T (p.Gln1088His) c.3258G>T (p.Gln1086His) c.3240G>T (p.Gln1080His) c.3186G>T (p.Gln1062His) c.2493G>T (p.Gln831His) c.2406G>T (p.Gln802His) n.3682G>T | |
17 | g.39727721C>A | CA399312887 | ERBB2 | c.3445C>A (p.Pro1149Thr) c.3355C>A (p.Pro1119Thr) c.2617C>A (p.Pro873Thr) c.3400C>A (p.Pro1134Thr) c.*3235C>A (n.*3235C>A) c.*24C>A (n.*24C>A) n.3769C>A c.3583C>A (p.Pro1195Thr) c.3538C>A (p.Pro1180Thr) c.3493C>A (p.Pro1165Thr) c.3562C>A (p.Pro1188Thr) c.3547C>A (p.Pro1183Thr) c.3526C>A (p.Pro1176Thr) c.3520C>A (p.Pro1174Thr) c.3475C>A (p.Pro1159Thr) c.3466C>A (p.Pro1156Thr) c.3442C>A (p.Pro1148Thr) c.3436C>A (p.Pro1146Thr) c.3409C>A (p.Pro1137Thr) c.3403C>A (p.Pro1135Thr) c.3397C>A (p.Pro1133Thr) c.3358C>A (p.Pro1120Thr) c.3346C>A (p.Pro1116Thr) c.3289C>A (p.Pro1097Thr) c.3265C>A (p.Pro1089Thr) c.3259C>A (p.Pro1087Thr) c.3241C>A (p.Pro1081Thr) c.3187C>A (p.Pro1063Thr) c.2494C>A (p.Pro832Thr) c.2407C>A (p.Pro803Thr) n.3683C>A | dbSNP gnomAD v4 |
17 | g.39727721C= | CA2259229230 | ERBB2 | c.3445C= (p.Pro1149=) c.3355C= (p.Pro1119=) c.2617C= (p.Pro873=) c.3400C= (p.Pro1134=) c.*3235C= (n.*3235C=) c.*24C= (n.*24C=) n.3769C= c.3583C= (p.Pro1195=) c.3538C= (p.Pro1180=) c.3493C= (p.Pro1165=) c.3562C= (p.Pro1188=) c.3547C= (p.Pro1183=) c.3526C= (p.Pro1176=) c.3520C= (p.Pro1174=) c.3475C= (p.Pro1159=) c.3466C= (p.Pro1156=) c.3442C= (p.Pro1148=) c.3436C= (p.Pro1146=) c.3409C= (p.Pro1137=) c.3403C= (p.Pro1135=) c.3397C= (p.Pro1133=) c.3358C= (p.Pro1120=) c.3346C= (p.Pro1116=) c.3289C= (p.Pro1097=) c.3265C= (p.Pro1089=) c.3259C= (p.Pro1087=) c.3241C= (p.Pro1081=) c.3187C= (p.Pro1063=) c.2494C= (p.Pro832=) c.2407C= (p.Pro803=) n.3683C= | |
17 | g.39727721C>G | CA399312888 | ERBB2 | c.3445C>G (p.Pro1149Ala) c.3355C>G (p.Pro1119Ala) c.2617C>G (p.Pro873Ala) c.3400C>G (p.Pro1134Ala) c.*3235C>G (n.*3235C>G) c.*24C>G (n.*24C>G) n.3769C>G c.3583C>G (p.Pro1195Ala) c.3538C>G (p.Pro1180Ala) c.3493C>G (p.Pro1165Ala) c.3562C>G (p.Pro1188Ala) c.3547C>G (p.Pro1183Ala) c.3526C>G (p.Pro1176Ala) c.3520C>G (p.Pro1174Ala) c.3475C>G (p.Pro1159Ala) c.3466C>G (p.Pro1156Ala) c.3442C>G (p.Pro1148Ala) c.3436C>G (p.Pro1146Ala) c.3409C>G (p.Pro1137Ala) c.3403C>G (p.Pro1135Ala) c.3397C>G (p.Pro1133Ala) c.3358C>G (p.Pro1120Ala) c.3346C>G (p.Pro1116Ala) c.3289C>G (p.Pro1097Ala) c.3265C>G (p.Pro1089Ala) c.3259C>G (p.Pro1087Ala) c.3241C>G (p.Pro1081Ala) c.3187C>G (p.Pro1063Ala) c.2494C>G (p.Pro832Ala) c.2407C>G (p.Pro803Ala) n.3683C>G | dbSNP |
17 | g.39727721C>T | CA399312889 | ERBB2 | c.3445C>T (p.Pro1149Ser) c.3355C>T (p.Pro1119Ser) c.2617C>T (p.Pro873Ser) c.3400C>T (p.Pro1134Ser) c.*3235C>T (n.*3235C>T) c.*24C>T (n.*24C>T) n.3769C>T c.3583C>T (p.Pro1195Ser) c.3538C>T (p.Pro1180Ser) c.3493C>T (p.Pro1165Ser) c.3562C>T (p.Pro1188Ser) c.3547C>T (p.Pro1183Ser) c.3526C>T (p.Pro1176Ser) c.3520C>T (p.Pro1174Ser) c.3475C>T (p.Pro1159Ser) c.3466C>T (p.Pro1156Ser) c.3442C>T (p.Pro1148Ser) c.3436C>T (p.Pro1146Ser) c.3409C>T (p.Pro1137Ser) c.3403C>T (p.Pro1135Ser) c.3397C>T (p.Pro1133Ser) c.3358C>T (p.Pro1120Ser) c.3346C>T (p.Pro1116Ser) c.3289C>T (p.Pro1097Ser) c.3265C>T (p.Pro1089Ser) c.3259C>T (p.Pro1087Ser) c.3241C>T (p.Pro1081Ser) c.3187C>T (p.Pro1063Ser) c.2494C>T (p.Pro832Ser) c.2407C>T (p.Pro803Ser) n.3683C>T | dbSNP gnomAD v4 |
17 | g.39727725del | CA2576254913 | ERBB2 | c.3449del (p.Pro1150LeufsTer?) c.3359del (p.Pro1120LeufsTer?) c.2621del (p.Pro874LeufsTer?) c.3404del (p.Pro1135LeufsTer?) c.*3239del (n.*3239del) c.*28del (n.*28del) n.3773del c.3587del (p.Pro1196LeufsTer?) c.3542del (p.Pro1181LeufsTer?) c.3497del (p.Pro1166LeufsTer?) c.3566del (p.Pro1189LeufsTer?) c.3551del (p.Pro1184LeufsTer?) c.3530del (p.Pro1177LeufsTer?) c.3524del (p.Pro1175LeufsTer?) c.3479del (p.Pro1160LeufsTer?) c.3470del (p.Pro1157LeufsTer?) c.3446del (p.Pro1149LeufsTer?) c.3440del (p.Pro1147LeufsTer?) c.3413del (p.Pro1138LeufsTer?) c.3407del (p.Pro1136LeufsTer?) c.3401del (p.Pro1134LeufsTer?) c.3362del (p.Pro1121LeufsTer?) c.3350del (p.Pro1117LeufsTer?) c.3293del (p.Pro1098LeufsTer?) c.3269del (p.Pro1090LeufsTer?) c.3263del (p.Pro1088LeufsTer?) c.3245del (p.Pro1082LeufsTer?) c.3191del (p.Pro1064LeufsTer?) c.2498del (p.Pro833LeufsTer?) c.2411del (p.Pro804LeufsTer?) n.3687del | dbSNP |
17 | g.39727722C>A | CA399312890 | ERBB2 | c.3446C>A (p.Pro1149His) c.3356C>A (p.Pro1119His) c.2618C>A (p.Pro873His) c.3401C>A (p.Pro1134His) c.*3236C>A (n.*3236C>A) c.*25C>A (n.*25C>A) n.3770C>A c.3584C>A (p.Pro1195His) c.3539C>A (p.Pro1180His) c.3494C>A (p.Pro1165His) c.3563C>A (p.Pro1188His) c.3548C>A (p.Pro1183His) c.3527C>A (p.Pro1176His) c.3521C>A (p.Pro1174His) c.3476C>A (p.Pro1159His) c.3467C>A (p.Pro1156His) c.3443C>A (p.Pro1148His) c.3437C>A (p.Pro1146His) c.3410C>A (p.Pro1137His) c.3404C>A (p.Pro1135His) c.3398C>A (p.Pro1133His) c.3359C>A (p.Pro1120His) c.3347C>A (p.Pro1116His) c.3290C>A (p.Pro1097His) c.3266C>A (p.Pro1089His) c.3260C>A (p.Pro1087His) c.3242C>A (p.Pro1081His) c.3188C>A (p.Pro1063His) c.2495C>A (p.Pro832His) c.2408C>A (p.Pro803His) n.3684C>A | dbSNP |
17 | g.39727722C>G | CA399312891 | ERBB2 | c.3446C>G (p.Pro1149Arg) c.3356C>G (p.Pro1119Arg) c.2618C>G (p.Pro873Arg) c.3401C>G (p.Pro1134Arg) c.*3236C>G (n.*3236C>G) c.*25C>G (n.*25C>G) n.3770C>G c.3584C>G (p.Pro1195Arg) c.3539C>G (p.Pro1180Arg) c.3494C>G (p.Pro1165Arg) c.3563C>G (p.Pro1188Arg) c.3548C>G (p.Pro1183Arg) c.3527C>G (p.Pro1176Arg) c.3521C>G (p.Pro1174Arg) c.3476C>G (p.Pro1159Arg) c.3467C>G (p.Pro1156Arg) c.3443C>G (p.Pro1148Arg) c.3437C>G (p.Pro1146Arg) c.3410C>G (p.Pro1137Arg) c.3404C>G (p.Pro1135Arg) c.3398C>G (p.Pro1133Arg) c.3359C>G (p.Pro1120Arg) c.3347C>G (p.Pro1116Arg) c.3290C>G (p.Pro1097Arg) c.3266C>G (p.Pro1089Arg) c.3260C>G (p.Pro1087Arg) c.3242C>G (p.Pro1081Arg) c.3188C>G (p.Pro1063Arg) c.2495C>G (p.Pro832Arg) c.2408C>G (p.Pro803Arg) n.3684C>G | dbSNP |
17 | g.39727722C>T | CA399312892 | ERBB2 | c.3446C>T (p.Pro1149Leu) c.3356C>T (p.Pro1119Leu) c.2618C>T (p.Pro873Leu) c.3401C>T (p.Pro1134Leu) c.*3236C>T (n.*3236C>T) c.*25C>T (n.*25C>T) n.3770C>T c.3584C>T (p.Pro1195Leu) c.3539C>T (p.Pro1180Leu) c.3494C>T (p.Pro1165Leu) c.3563C>T (p.Pro1188Leu) c.3548C>T (p.Pro1183Leu) c.3527C>T (p.Pro1176Leu) c.3521C>T (p.Pro1174Leu) c.3476C>T (p.Pro1159Leu) c.3467C>T (p.Pro1156Leu) c.3443C>T (p.Pro1148Leu) c.3437C>T (p.Pro1146Leu) c.3410C>T (p.Pro1137Leu) c.3404C>T (p.Pro1135Leu) c.3398C>T (p.Pro1133Leu) c.3359C>T (p.Pro1120Leu) c.3347C>T (p.Pro1116Leu) c.3290C>T (p.Pro1097Leu) c.3266C>T (p.Pro1089Leu) c.3260C>T (p.Pro1087Leu) c.3242C>T (p.Pro1081Leu) c.3188C>T (p.Pro1063Leu) c.2495C>T (p.Pro832Leu) c.2408C>T (p.Pro803Leu) n.3684C>T | dbSNP |
17 | g.39727723C>A | CA499890521 | ERBB2 | c.3447C>A (p.Pro1149=) c.3357C>A (p.Pro1119=) c.2619C>A (p.Pro873=) c.3402C>A (p.Pro1134=) c.*3237C>A (n.*3237C>A) c.*26C>A (n.*26C>A) n.3771C>A c.3585C>A (p.Pro1195=) c.3540C>A (p.Pro1180=) c.3495C>A (p.Pro1165=) c.3564C>A (p.Pro1188=) c.3549C>A (p.Pro1183=) c.3528C>A (p.Pro1176=) c.3522C>A (p.Pro1174=) c.3477C>A (p.Pro1159=) c.3468C>A (p.Pro1156=) c.3444C>A (p.Pro1148=) c.3438C>A (p.Pro1146=) c.3411C>A (p.Pro1137=) c.3405C>A (p.Pro1135=) c.3399C>A (p.Pro1133=) c.3360C>A (p.Pro1120=) c.3348C>A (p.Pro1116=) c.3291C>A (p.Pro1097=) c.3267C>A (p.Pro1089=) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=) c.3189C>A (p.Pro1063=) c.2496C>A (p.Pro832=) c.2409C>A (p.Pro803=) n.3685C>A | |
17 | g.39727723C>G | CA499890522 | ERBB2 | c.3447C>G (p.Pro1149=) c.3357C>G (p.Pro1119=) c.2619C>G (p.Pro873=) c.3402C>G (p.Pro1134=) c.*3237C>G (n.*3237C>G) c.*26C>G (n.*26C>G) n.3771C>G c.3585C>G (p.Pro1195=) c.3540C>G (p.Pro1180=) c.3495C>G (p.Pro1165=) c.3564C>G (p.Pro1188=) c.3549C>G (p.Pro1183=) c.3528C>G (p.Pro1176=) c.3522C>G (p.Pro1174=) c.3477C>G (p.Pro1159=) c.3468C>G (p.Pro1156=) c.3444C>G (p.Pro1148=) c.3438C>G (p.Pro1146=) c.3411C>G (p.Pro1137=) c.3405C>G (p.Pro1135=) c.3399C>G (p.Pro1133=) c.3360C>G (p.Pro1120=) c.3348C>G (p.Pro1116=) c.3291C>G (p.Pro1097=) c.3267C>G (p.Pro1089=) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=) c.3189C>G (p.Pro1063=) c.2496C>G (p.Pro832=) c.2409C>G (p.Pro803=) n.3685C>G | dbSNP |
17 | g.39727723C>T | CA499890524 | ERBB2 | c.3447C>T (p.Pro1149=) c.3357C>T (p.Pro1119=) c.2619C>T (p.Pro873=) c.3402C>T (p.Pro1134=) c.*3237C>T (n.*3237C>T) c.*26C>T (n.*26C>T) n.3771C>T c.3585C>T (p.Pro1195=) c.3540C>T (p.Pro1180=) c.3495C>T (p.Pro1165=) c.3564C>T (p.Pro1188=) c.3549C>T (p.Pro1183=) c.3528C>T (p.Pro1176=) c.3522C>T (p.Pro1174=) c.3477C>T (p.Pro1159=) c.3468C>T (p.Pro1156=) c.3444C>T (p.Pro1148=) c.3438C>T (p.Pro1146=) c.3411C>T (p.Pro1137=) c.3405C>T (p.Pro1135=) c.3399C>T (p.Pro1133=) c.3360C>T (p.Pro1120=) c.3348C>T (p.Pro1116=) c.3291C>T (p.Pro1097=) c.3267C>T (p.Pro1089=) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=) c.3189C>T (p.Pro1063=) c.2496C>T (p.Pro832=) c.2409C>T (p.Pro803=) n.3685C>T | dbSNP gnomAD v4 |
17 | g.39727724C>A | CA399312894 | ERBB2 | c.3448C>A (p.Pro1150Thr) c.3358C>A (p.Pro1120Thr) c.2620C>A (p.Pro874Thr) c.3403C>A (p.Pro1135Thr) c.*3238C>A (n.*3238C>A) c.*27C>A (n.*27C>A) n.3772C>A c.3586C>A (p.Pro1196Thr) c.3541C>A (p.Pro1181Thr) c.3496C>A (p.Pro1166Thr) c.3565C>A (p.Pro1189Thr) c.3550C>A (p.Pro1184Thr) c.3529C>A (p.Pro1177Thr) c.3523C>A (p.Pro1175Thr) c.3478C>A (p.Pro1160Thr) c.3469C>A (p.Pro1157Thr) c.3445C>A (p.Pro1149Thr) c.3439C>A (p.Pro1147Thr) c.3412C>A (p.Pro1138Thr) c.3406C>A (p.Pro1136Thr) c.3400C>A (p.Pro1134Thr) c.3361C>A (p.Pro1121Thr) c.3349C>A (p.Pro1117Thr) c.3292C>A (p.Pro1098Thr) c.3268C>A (p.Pro1090Thr) c.3262C>A (p.Pro1088Thr) c.3244C>A (p.Pro1082Thr) c.3190C>A (p.Pro1064Thr) c.2497C>A (p.Pro833Thr) c.2410C>A (p.Pro804Thr) n.3686C>A | |
17 | g.39727724C= | CA2259229231 | ERBB2 | c.3448C= (p.Pro1150=) c.3358C= (p.Pro1120=) c.2620C= (p.Pro874=) c.3403C= (p.Pro1135=) c.*3238C= (n.*3238C=) c.*27C= (n.*27C=) n.3772C= c.3586C= (p.Pro1196=) c.3541C= (p.Pro1181=) c.3496C= (p.Pro1166=) c.3565C= (p.Pro1189=) c.3550C= (p.Pro1184=) c.3529C= (p.Pro1177=) c.3523C= (p.Pro1175=) c.3478C= (p.Pro1160=) c.3469C= (p.Pro1157=) c.3445C= (p.Pro1149=) c.3439C= (p.Pro1147=) c.3412C= (p.Pro1138=) c.3406C= (p.Pro1136=) c.3400C= (p.Pro1134=) c.3361C= (p.Pro1121=) c.3349C= (p.Pro1117=) c.3292C= (p.Pro1098=) c.3268C= (p.Pro1090=) c.3262C= (p.Pro1088=) c.3244C= (p.Pro1082=) c.3190C= (p.Pro1064=) c.2497C= (p.Pro833=) c.2410C= (p.Pro804=) n.3686C= | |
17 | g.39727724C>G | CA290443774 | ERBB2 | c.3448C>G (p.Pro1150Ala) c.3358C>G (p.Pro1120Ala) c.2620C>G (p.Pro874Ala) c.3403C>G (p.Pro1135Ala) c.*3238C>G (n.*3238C>G) c.*27C>G (n.*27C>G) n.3772C>G c.3586C>G (p.Pro1196Ala) c.3541C>G (p.Pro1181Ala) c.3496C>G (p.Pro1166Ala) c.3565C>G (p.Pro1189Ala) c.3550C>G (p.Pro1184Ala) c.3529C>G (p.Pro1177Ala) c.3523C>G (p.Pro1175Ala) c.3478C>G (p.Pro1160Ala) c.3469C>G (p.Pro1157Ala) c.3445C>G (p.Pro1149Ala) c.3439C>G (p.Pro1147Ala) c.3412C>G (p.Pro1138Ala) c.3406C>G (p.Pro1136Ala) c.3400C>G (p.Pro1134Ala) c.3361C>G (p.Pro1121Ala) c.3349C>G (p.Pro1117Ala) c.3292C>G (p.Pro1098Ala) c.3268C>G (p.Pro1090Ala) c.3262C>G (p.Pro1088Ala) c.3244C>G (p.Pro1082Ala) c.3190C>G (p.Pro1064Ala) c.2497C>G (p.Pro833Ala) c.2410C>G (p.Pro804Ala) n.3686C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727724C>T | CA399312893 | ERBB2 | c.3448C>T (p.Pro1150Ser) c.3358C>T (p.Pro1120Ser) c.2620C>T (p.Pro874Ser) c.3403C>T (p.Pro1135Ser) c.*3238C>T (n.*3238C>T) c.*27C>T (n.*27C>T) n.3772C>T c.3586C>T (p.Pro1196Ser) c.3541C>T (p.Pro1181Ser) c.3496C>T (p.Pro1166Ser) c.3565C>T (p.Pro1189Ser) c.3550C>T (p.Pro1184Ser) c.3529C>T (p.Pro1177Ser) c.3523C>T (p.Pro1175Ser) c.3478C>T (p.Pro1160Ser) c.3469C>T (p.Pro1157Ser) c.3445C>T (p.Pro1149Ser) c.3439C>T (p.Pro1147Ser) c.3412C>T (p.Pro1138Ser) c.3406C>T (p.Pro1136Ser) c.3400C>T (p.Pro1134Ser) c.3361C>T (p.Pro1121Ser) c.3349C>T (p.Pro1117Ser) c.3292C>T (p.Pro1098Ser) c.3268C>T (p.Pro1090Ser) c.3262C>T (p.Pro1088Ser) c.3244C>T (p.Pro1082Ser) c.3190C>T (p.Pro1064Ser) c.2497C>T (p.Pro833Ser) c.2410C>T (p.Pro804Ser) n.3686C>T | dbSNP gnomAD v4 |
17 | g.39727725C>A | CA399312895 | ERBB2 | c.3449C>A (p.Pro1150His) c.3359C>A (p.Pro1120His) c.2621C>A (p.Pro874His) c.3404C>A (p.Pro1135His) c.*3239C>A (n.*3239C>A) c.*28C>A (n.*28C>A) n.3773C>A c.3587C>A (p.Pro1196His) c.3542C>A (p.Pro1181His) c.3497C>A (p.Pro1166His) c.3566C>A (p.Pro1189His) c.3551C>A (p.Pro1184His) c.3530C>A (p.Pro1177His) c.3524C>A (p.Pro1175His) c.3479C>A (p.Pro1160His) c.3470C>A (p.Pro1157His) c.3446C>A (p.Pro1149His) c.3440C>A (p.Pro1147His) c.3413C>A (p.Pro1138His) c.3407C>A (p.Pro1136His) c.3401C>A (p.Pro1134His) c.3362C>A (p.Pro1121His) c.3350C>A (p.Pro1117His) c.3293C>A (p.Pro1098His) c.3269C>A (p.Pro1090His) c.3263C>A (p.Pro1088His) c.3245C>A (p.Pro1082His) c.3191C>A (p.Pro1064His) c.2498C>A (p.Pro833His) c.2411C>A (p.Pro804His) n.3687C>A | dbSNP |
17 | g.39727725C>G | CA399312896 | ERBB2 | c.3449C>G (p.Pro1150Arg) c.3359C>G (p.Pro1120Arg) c.2621C>G (p.Pro874Arg) c.3404C>G (p.Pro1135Arg) c.*3239C>G (n.*3239C>G) c.*28C>G (n.*28C>G) n.3773C>G c.3587C>G (p.Pro1196Arg) c.3542C>G (p.Pro1181Arg) c.3497C>G (p.Pro1166Arg) c.3566C>G (p.Pro1189Arg) c.3551C>G (p.Pro1184Arg) c.3530C>G (p.Pro1177Arg) c.3524C>G (p.Pro1175Arg) c.3479C>G (p.Pro1160Arg) c.3470C>G (p.Pro1157Arg) c.3446C>G (p.Pro1149Arg) c.3440C>G (p.Pro1147Arg) c.3413C>G (p.Pro1138Arg) c.3407C>G (p.Pro1136Arg) c.3401C>G (p.Pro1134Arg) c.3362C>G (p.Pro1121Arg) c.3350C>G (p.Pro1117Arg) c.3293C>G (p.Pro1098Arg) c.3269C>G (p.Pro1090Arg) c.3263C>G (p.Pro1088Arg) c.3245C>G (p.Pro1082Arg) c.3191C>G (p.Pro1064Arg) c.2498C>G (p.Pro833Arg) c.2411C>G (p.Pro804Arg) n.3687C>G | dbSNP |
17 | g.39727725C>T | CA399312897 | ERBB2 | c.3449C>T (p.Pro1150Leu) c.3359C>T (p.Pro1120Leu) c.2621C>T (p.Pro874Leu) c.3404C>T (p.Pro1135Leu) c.*3239C>T (n.*3239C>T) c.*28C>T (n.*28C>T) n.3773C>T c.3587C>T (p.Pro1196Leu) c.3542C>T (p.Pro1181Leu) c.3497C>T (p.Pro1166Leu) c.3566C>T (p.Pro1189Leu) c.3551C>T (p.Pro1184Leu) c.3530C>T (p.Pro1177Leu) c.3524C>T (p.Pro1175Leu) c.3479C>T (p.Pro1160Leu) c.3470C>T (p.Pro1157Leu) c.3446C>T (p.Pro1149Leu) c.3440C>T (p.Pro1147Leu) c.3413C>T (p.Pro1138Leu) c.3407C>T (p.Pro1136Leu) c.3401C>T (p.Pro1134Leu) c.3362C>T (p.Pro1121Leu) c.3350C>T (p.Pro1117Leu) c.3293C>T (p.Pro1098Leu) c.3269C>T (p.Pro1090Leu) c.3263C>T (p.Pro1088Leu) c.3245C>T (p.Pro1082Leu) c.3191C>T (p.Pro1064Leu) c.2498C>T (p.Pro833Leu) c.2411C>T (p.Pro804Leu) n.3687C>T | dbSNP |
17 | g.39727726T>A | CA499890526 | ERBB2 | c.3450T>A (p.Pro1150=) c.3360T>A (p.Pro1120=) c.2622T>A (p.Pro874=) c.3405T>A (p.Pro1135=) c.*3240T>A (n.*3240T>A) c.*29T>A (n.*29T>A) n.3774T>A c.3588T>A (p.Pro1196=) c.3543T>A (p.Pro1181=) c.3498T>A (p.Pro1166=) c.3567T>A (p.Pro1189=) c.3552T>A (p.Pro1184=) c.3531T>A (p.Pro1177=) c.3525T>A (p.Pro1175=) c.3480T>A (p.Pro1160=) c.3471T>A (p.Pro1157=) c.3447T>A (p.Pro1149=) c.3441T>A (p.Pro1147=) c.3414T>A (p.Pro1138=) c.3408T>A (p.Pro1136=) c.3402T>A (p.Pro1134=) c.3363T>A (p.Pro1121=) c.3351T>A (p.Pro1117=) c.3294T>A (p.Pro1098=) c.3270T>A (p.Pro1090=) c.3264T>A (p.Pro1088=) c.3246T>A (p.Pro1082=) c.3192T>A (p.Pro1064=) c.2499T>A (p.Pro833=) c.2412T>A (p.Pro804=) n.3688T>A | dbSNP gnomAD v4 |
17 | g.39727726T>C | CA8534563 | ERBB2 | c.3450T>C (p.Pro1150=) c.3360T>C (p.Pro1120=) c.2622T>C (p.Pro874=) c.3405T>C (p.Pro1135=) c.*3240T>C (n.*3240T>C) c.*29T>C (n.*29T>C) n.3774T>C c.3588T>C (p.Pro1196=) c.3543T>C (p.Pro1181=) c.3498T>C (p.Pro1166=) c.3567T>C (p.Pro1189=) c.3552T>C (p.Pro1184=) c.3531T>C (p.Pro1177=) c.3525T>C (p.Pro1175=) c.3480T>C (p.Pro1160=) c.3471T>C (p.Pro1157=) c.3447T>C (p.Pro1149=) c.3441T>C (p.Pro1147=) c.3414T>C (p.Pro1138=) c.3408T>C (p.Pro1136=) c.3402T>C (p.Pro1134=) c.3363T>C (p.Pro1121=) c.3351T>C (p.Pro1117=) c.3294T>C (p.Pro1098=) c.3270T>C (p.Pro1090=) c.3264T>C (p.Pro1088=) c.3246T>C (p.Pro1082=) c.3192T>C (p.Pro1064=) c.2499T>C (p.Pro833=) c.2412T>C (p.Pro804=) n.3688T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727726T>G | CA499890530 | ERBB2 | c.3450T>G (p.Pro1150=) c.3360T>G (p.Pro1120=) c.2622T>G (p.Pro874=) c.3405T>G (p.Pro1135=) c.*3240T>G (n.*3240T>G) c.*29T>G (n.*29T>G) n.3774T>G c.3588T>G (p.Pro1196=) c.3543T>G (p.Pro1181=) c.3498T>G (p.Pro1166=) c.3567T>G (p.Pro1189=) c.3552T>G (p.Pro1184=) c.3531T>G (p.Pro1177=) c.3525T>G (p.Pro1175=) c.3480T>G (p.Pro1160=) c.3471T>G (p.Pro1157=) c.3447T>G (p.Pro1149=) c.3441T>G (p.Pro1147=) c.3414T>G (p.Pro1138=) c.3408T>G (p.Pro1136=) c.3402T>G (p.Pro1134=) c.3363T>G (p.Pro1121=) c.3351T>G (p.Pro1117=) c.3294T>G (p.Pro1098=) c.3270T>G (p.Pro1090=) c.3264T>G (p.Pro1088=) c.3246T>G (p.Pro1082=) c.3192T>G (p.Pro1064=) c.2499T>G (p.Pro833=) c.2412T>G (p.Pro804=) n.3688T>G | dbSNP |
17 | g.39727726T= | CA2259229232 | ERBB2 | c.3450T= (p.Pro1150=) c.3360T= (p.Pro1120=) c.2622T= (p.Pro874=) c.3405T= (p.Pro1135=) c.*3240T= (n.*3240T=) c.*29T= (n.*29T=) n.3774T= c.3588T= (p.Pro1196=) c.3543T= (p.Pro1181=) c.3498T= (p.Pro1166=) c.3567T= (p.Pro1189=) c.3552T= (p.Pro1184=) c.3531T= (p.Pro1177=) c.3525T= (p.Pro1175=) c.3480T= (p.Pro1160=) c.3471T= (p.Pro1157=) c.3447T= (p.Pro1149=) c.3441T= (p.Pro1147=) c.3414T= (p.Pro1138=) c.3408T= (p.Pro1136=) c.3402T= (p.Pro1134=) c.3363T= (p.Pro1121=) c.3351T= (p.Pro1117=) c.3294T= (p.Pro1098=) c.3270T= (p.Pro1090=) c.3264T= (p.Pro1088=) c.3246T= (p.Pro1082=) c.3192T= (p.Pro1064=) c.2499T= (p.Pro833=) c.2412T= (p.Pro804=) n.3688T= | |
17 | g.39727727T>A | CA399312898 | ERBB2 | c.3451T>A (p.Ser1151Thr) c.3361T>A (p.Ser1121Thr) c.2623T>A (p.Ser875Thr) c.3406T>A (p.Ser1136Thr) c.*3241T>A (n.*3241T>A) c.*30T>A (n.*30T>A) n.3775T>A c.3589T>A (p.Ser1197Thr) c.3544T>A (p.Ser1182Thr) c.3499T>A (p.Ser1167Thr) c.3568T>A (p.Ser1190Thr) c.3553T>A (p.Ser1185Thr) c.3532T>A (p.Ser1178Thr) c.3526T>A (p.Ser1176Thr) c.3481T>A (p.Ser1161Thr) c.3472T>A (p.Ser1158Thr) c.3448T>A (p.Ser1150Thr) c.3442T>A (p.Ser1148Thr) c.3415T>A (p.Ser1139Thr) c.3409T>A (p.Ser1137Thr) c.3403T>A (p.Ser1135Thr) c.3364T>A (p.Ser1122Thr) c.3352T>A (p.Ser1118Thr) c.3295T>A (p.Ser1099Thr) c.3271T>A (p.Ser1091Thr) c.3265T>A (p.Ser1089Thr) c.3247T>A (p.Ser1083Thr) c.3193T>A (p.Ser1065Thr) c.2500T>A (p.Ser834Thr) c.2413T>A (p.Ser805Thr) n.3689T>A | dbSNP |
17 | g.39727727T>C | CA399312899 | ERBB2 | c.3451T>C (p.Ser1151Pro) c.3361T>C (p.Ser1121Pro) c.2623T>C (p.Ser875Pro) c.3406T>C (p.Ser1136Pro) c.*3241T>C (n.*3241T>C) c.*30T>C (n.*30T>C) n.3775T>C c.3589T>C (p.Ser1197Pro) c.3544T>C (p.Ser1182Pro) c.3499T>C (p.Ser1167Pro) c.3568T>C (p.Ser1190Pro) c.3553T>C (p.Ser1185Pro) c.3532T>C (p.Ser1178Pro) c.3526T>C (p.Ser1176Pro) c.3481T>C (p.Ser1161Pro) c.3472T>C (p.Ser1158Pro) c.3448T>C (p.Ser1150Pro) c.3442T>C (p.Ser1148Pro) c.3415T>C (p.Ser1139Pro) c.3409T>C (p.Ser1137Pro) c.3403T>C (p.Ser1135Pro) c.3364T>C (p.Ser1122Pro) c.3352T>C (p.Ser1118Pro) c.3295T>C (p.Ser1099Pro) c.3271T>C (p.Ser1091Pro) c.3265T>C (p.Ser1089Pro) c.3247T>C (p.Ser1083Pro) c.3193T>C (p.Ser1065Pro) c.2500T>C (p.Ser834Pro) c.2413T>C (p.Ser805Pro) n.3689T>C | dbSNP |
17 | g.39727727T>G | CA399312900 | ERBB2 | c.3451T>G (p.Ser1151Ala) c.3361T>G (p.Ser1121Ala) c.2623T>G (p.Ser875Ala) c.3406T>G (p.Ser1136Ala) c.*3241T>G (n.*3241T>G) c.*30T>G (n.*30T>G) n.3775T>G c.3589T>G (p.Ser1197Ala) c.3544T>G (p.Ser1182Ala) c.3499T>G (p.Ser1167Ala) c.3568T>G (p.Ser1190Ala) c.3553T>G (p.Ser1185Ala) c.3532T>G (p.Ser1178Ala) c.3526T>G (p.Ser1176Ala) c.3481T>G (p.Ser1161Ala) c.3472T>G (p.Ser1158Ala) c.3448T>G (p.Ser1150Ala) c.3442T>G (p.Ser1148Ala) c.3415T>G (p.Ser1139Ala) c.3409T>G (p.Ser1137Ala) c.3403T>G (p.Ser1135Ala) c.3364T>G (p.Ser1122Ala) c.3352T>G (p.Ser1118Ala) c.3295T>G (p.Ser1099Ala) c.3271T>G (p.Ser1091Ala) c.3265T>G (p.Ser1089Ala) c.3247T>G (p.Ser1083Ala) c.3193T>G (p.Ser1065Ala) c.2500T>G (p.Ser834Ala) c.2413T>G (p.Ser805Ala) n.3689T>G | dbSNP |
17 | g.39727728C>A | CA399312901 | ERBB2 | c.3452C>A (p.Ser1151Ter) c.3362C>A (p.Ser1121Ter) c.2624C>A (p.Ser875Ter) c.3407C>A (p.Ser1136Ter) c.*3242C>A (n.*3242C>A) c.*31C>A (n.*31C>A) n.3776C>A c.3590C>A (p.Ser1197Ter) c.3545C>A (p.Ser1182Ter) c.3500C>A (p.Ser1167Ter) c.3569C>A (p.Ser1190Ter) c.3554C>A (p.Ser1185Ter) c.3533C>A (p.Ser1178Ter) c.3527C>A (p.Ser1176Ter) c.3482C>A (p.Ser1161Ter) c.3473C>A (p.Ser1158Ter) c.3449C>A (p.Ser1150Ter) c.3443C>A (p.Ser1148Ter) c.3416C>A (p.Ser1139Ter) c.3410C>A (p.Ser1137Ter) c.3404C>A (p.Ser1135Ter) c.3365C>A (p.Ser1122Ter) c.3353C>A (p.Ser1118Ter) c.3296C>A (p.Ser1099Ter) c.3272C>A (p.Ser1091Ter) c.3266C>A (p.Ser1089Ter) c.3248C>A (p.Ser1083Ter) c.3194C>A (p.Ser1065Ter) c.2501C>A (p.Ser834Ter) c.2414C>A (p.Ser805Ter) n.3690C>A | dbSNP |
17 | g.39727728C= | CA2259229233 | ERBB2 | c.3452C= (p.Ser1151=) c.3362C= (p.Ser1121=) c.2624C= (p.Ser875=) c.3407C= (p.Ser1136=) c.*3242C= (n.*3242C=) c.*31C= (n.*31C=) n.3776C= c.3590C= (p.Ser1197=) c.3545C= (p.Ser1182=) c.3500C= (p.Ser1167=) c.3569C= (p.Ser1190=) c.3554C= (p.Ser1185=) c.3533C= (p.Ser1178=) c.3527C= (p.Ser1176=) c.3482C= (p.Ser1161=) c.3473C= (p.Ser1158=) c.3449C= (p.Ser1150=) c.3443C= (p.Ser1148=) c.3416C= (p.Ser1139=) c.3410C= (p.Ser1137=) c.3404C= (p.Ser1135=) c.3365C= (p.Ser1122=) c.3353C= (p.Ser1118=) c.3296C= (p.Ser1099=) c.3272C= (p.Ser1091=) c.3266C= (p.Ser1089=) c.3248C= (p.Ser1083=) c.3194C= (p.Ser1065=) c.2501C= (p.Ser834=) c.2414C= (p.Ser805=) n.3690C= | |
17 | g.39727728C>G | CA399312902 | ERBB2 | c.3452C>G (p.Ser1151Trp) c.3362C>G (p.Ser1121Trp) c.2624C>G (p.Ser875Trp) c.3407C>G (p.Ser1136Trp) c.*3242C>G (n.*3242C>G) c.*31C>G (n.*31C>G) n.3776C>G c.3590C>G (p.Ser1197Trp) c.3545C>G (p.Ser1182Trp) c.3500C>G (p.Ser1167Trp) c.3569C>G (p.Ser1190Trp) c.3554C>G (p.Ser1185Trp) c.3533C>G (p.Ser1178Trp) c.3527C>G (p.Ser1176Trp) c.3482C>G (p.Ser1161Trp) c.3473C>G (p.Ser1158Trp) c.3449C>G (p.Ser1150Trp) c.3443C>G (p.Ser1148Trp) c.3416C>G (p.Ser1139Trp) c.3410C>G (p.Ser1137Trp) c.3404C>G (p.Ser1135Trp) c.3365C>G (p.Ser1122Trp) c.3353C>G (p.Ser1118Trp) c.3296C>G (p.Ser1099Trp) c.3272C>G (p.Ser1091Trp) c.3266C>G (p.Ser1089Trp) c.3248C>G (p.Ser1083Trp) c.3194C>G (p.Ser1065Trp) c.2501C>G (p.Ser834Trp) c.2414C>G (p.Ser805Trp) n.3690C>G | dbSNP |
17 | g.39727728C>T | CA399312903 | ERBB2 | c.3452C>T (p.Ser1151Leu) c.3362C>T (p.Ser1121Leu) c.2624C>T (p.Ser875Leu) c.3407C>T (p.Ser1136Leu) c.*3242C>T (n.*3242C>T) c.*31C>T (n.*31C>T) n.3776C>T c.3590C>T (p.Ser1197Leu) c.3545C>T (p.Ser1182Leu) c.3500C>T (p.Ser1167Leu) c.3569C>T (p.Ser1190Leu) c.3554C>T (p.Ser1185Leu) c.3533C>T (p.Ser1178Leu) c.3527C>T (p.Ser1176Leu) c.3482C>T (p.Ser1161Leu) c.3473C>T (p.Ser1158Leu) c.3449C>T (p.Ser1150Leu) c.3443C>T (p.Ser1148Leu) c.3416C>T (p.Ser1139Leu) c.3410C>T (p.Ser1137Leu) c.3404C>T (p.Ser1135Leu) c.3365C>T (p.Ser1122Leu) c.3353C>T (p.Ser1118Leu) c.3296C>T (p.Ser1099Leu) c.3272C>T (p.Ser1091Leu) c.3266C>T (p.Ser1089Leu) c.3248C>T (p.Ser1083Leu) c.3194C>T (p.Ser1065Leu) c.2501C>T (p.Ser834Leu) c.2414C>T (p.Ser805Leu) n.3690C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727729G>A | CA8534564 | ERBB2 | c.3453G>A (p.Ser1151=) c.3363G>A (p.Ser1121=) c.2625G>A (p.Ser875=) c.3408G>A (p.Ser1136=) c.*3243G>A (n.*3243G>A) c.*32G>A (n.*32G>A) n.3777G>A c.3591G>A (p.Ser1197=) c.3546G>A (p.Ser1182=) c.3501G>A (p.Ser1167=) c.3570G>A (p.Ser1190=) c.3555G>A (p.Ser1185=) c.3534G>A (p.Ser1178=) c.3528G>A (p.Ser1176=) c.3483G>A (p.Ser1161=) c.3474G>A (p.Ser1158=) c.3450G>A (p.Ser1150=) c.3444G>A (p.Ser1148=) c.3417G>A (p.Ser1139=) c.3411G>A (p.Ser1137=) c.3405G>A (p.Ser1135=) c.3366G>A (p.Ser1122=) c.3354G>A (p.Ser1118=) c.3297G>A (p.Ser1099=) c.3273G>A (p.Ser1091=) c.3267G>A (p.Ser1089=) c.3249G>A (p.Ser1083=) c.3195G>A (p.Ser1065=) c.2502G>A (p.Ser834=) c.2415G>A (p.Ser805=) n.3691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727729G>C | CA499890535 | ERBB2 | c.3453G>C (p.Ser1151=) c.3363G>C (p.Ser1121=) c.2625G>C (p.Ser875=) c.3408G>C (p.Ser1136=) c.*3243G>C (n.*3243G>C) c.*32G>C (n.*32G>C) n.3777G>C c.3591G>C (p.Ser1197=) c.3546G>C (p.Ser1182=) c.3501G>C (p.Ser1167=) c.3570G>C (p.Ser1190=) c.3555G>C (p.Ser1185=) c.3534G>C (p.Ser1178=) c.3528G>C (p.Ser1176=) c.3483G>C (p.Ser1161=) c.3474G>C (p.Ser1158=) c.3450G>C (p.Ser1150=) c.3444G>C (p.Ser1148=) c.3417G>C (p.Ser1139=) c.3411G>C (p.Ser1137=) c.3405G>C (p.Ser1135=) c.3366G>C (p.Ser1122=) c.3354G>C (p.Ser1118=) c.3297G>C (p.Ser1099=) c.3273G>C (p.Ser1091=) c.3267G>C (p.Ser1089=) c.3249G>C (p.Ser1083=) c.3195G>C (p.Ser1065=) c.2502G>C (p.Ser834=) c.2415G>C (p.Ser805=) n.3691G>C | dbSNP |
17 | g.39727729G= | CA2259229234 | ERBB2 | c.3453G= (p.Ser1151=) c.3363G= (p.Ser1121=) c.2625G= (p.Ser875=) c.3408G= (p.Ser1136=) c.*3243G= (n.*3243G=) c.*32G= (n.*32G=) n.3777G= c.3591G= (p.Ser1197=) c.3546G= (p.Ser1182=) c.3501G= (p.Ser1167=) c.3570G= (p.Ser1190=) c.3555G= (p.Ser1185=) c.3534G= (p.Ser1178=) c.3528G= (p.Ser1176=) c.3483G= (p.Ser1161=) c.3474G= (p.Ser1158=) c.3450G= (p.Ser1150=) c.3444G= (p.Ser1148=) c.3417G= (p.Ser1139=) c.3411G= (p.Ser1137=) c.3405G= (p.Ser1135=) c.3366G= (p.Ser1122=) c.3354G= (p.Ser1118=) c.3297G= (p.Ser1099=) c.3273G= (p.Ser1091=) c.3267G= (p.Ser1089=) c.3249G= (p.Ser1083=) c.3195G= (p.Ser1065=) c.2502G= (p.Ser834=) c.2415G= (p.Ser805=) n.3691G= | |
17 | g.39727729G>T | CA499890536 | ERBB2 | c.3453G>T (p.Ser1151=) c.3363G>T (p.Ser1121=) c.2625G>T (p.Ser875=) c.3408G>T (p.Ser1136=) c.*3243G>T (n.*3243G>T) c.*32G>T (n.*32G>T) n.3777G>T c.3591G>T (p.Ser1197=) c.3546G>T (p.Ser1182=) c.3501G>T (p.Ser1167=) c.3570G>T (p.Ser1190=) c.3555G>T (p.Ser1185=) c.3534G>T (p.Ser1178=) c.3528G>T (p.Ser1176=) c.3483G>T (p.Ser1161=) c.3474G>T (p.Ser1158=) c.3450G>T (p.Ser1150=) c.3444G>T (p.Ser1148=) c.3417G>T (p.Ser1139=) c.3411G>T (p.Ser1137=) c.3405G>T (p.Ser1135=) c.3366G>T (p.Ser1122=) c.3354G>T (p.Ser1118=) c.3297G>T (p.Ser1099=) c.3273G>T (p.Ser1091=) c.3267G>T (p.Ser1089=) c.3249G>T (p.Ser1083=) c.3195G>T (p.Ser1065=) c.2502G>T (p.Ser834=) c.2415G>T (p.Ser805=) n.3691G>T | dbSNP |
17 | g.39727730C>A | CA399312905 | ERBB2 | c.3454C>A (p.Pro1152Thr) c.3364C>A (p.Pro1122Thr) c.2626C>A (p.Pro876Thr) c.3409C>A (p.Pro1137Thr) c.*3244C>A (n.*3244C>A) c.*33C>A (n.*33C>A) n.3778C>A c.3592C>A (p.Pro1198Thr) c.3547C>A (p.Pro1183Thr) c.3502C>A (p.Pro1168Thr) c.3571C>A (p.Pro1191Thr) c.3556C>A (p.Pro1186Thr) c.3535C>A (p.Pro1179Thr) c.3529C>A (p.Pro1177Thr) c.3484C>A (p.Pro1162Thr) c.3475C>A (p.Pro1159Thr) c.3451C>A (p.Pro1151Thr) c.3445C>A (p.Pro1149Thr) c.3418C>A (p.Pro1140Thr) c.3412C>A (p.Pro1138Thr) c.3406C>A (p.Pro1136Thr) c.3367C>A (p.Pro1123Thr) c.3355C>A (p.Pro1119Thr) c.3298C>A (p.Pro1100Thr) c.3274C>A (p.Pro1092Thr) c.3268C>A (p.Pro1090Thr) c.3250C>A (p.Pro1084Thr) c.3196C>A (p.Pro1066Thr) c.2503C>A (p.Pro835Thr) c.2416C>A (p.Pro806Thr) n.3692C>A | dbSNP |
17 | g.39727730C>G | CA399312906 | ERBB2 | c.3454C>G (p.Pro1152Ala) c.3364C>G (p.Pro1122Ala) c.2626C>G (p.Pro876Ala) c.3409C>G (p.Pro1137Ala) c.*3244C>G (n.*3244C>G) c.*33C>G (n.*33C>G) n.3778C>G c.3592C>G (p.Pro1198Ala) c.3547C>G (p.Pro1183Ala) c.3502C>G (p.Pro1168Ala) c.3571C>G (p.Pro1191Ala) c.3556C>G (p.Pro1186Ala) c.3535C>G (p.Pro1179Ala) c.3529C>G (p.Pro1177Ala) c.3484C>G (p.Pro1162Ala) c.3475C>G (p.Pro1159Ala) c.3451C>G (p.Pro1151Ala) c.3445C>G (p.Pro1149Ala) c.3418C>G (p.Pro1140Ala) c.3412C>G (p.Pro1138Ala) c.3406C>G (p.Pro1136Ala) c.3367C>G (p.Pro1123Ala) c.3355C>G (p.Pro1119Ala) c.3298C>G (p.Pro1100Ala) c.3274C>G (p.Pro1092Ala) c.3268C>G (p.Pro1090Ala) c.3250C>G (p.Pro1084Ala) c.3196C>G (p.Pro1066Ala) c.2503C>G (p.Pro835Ala) c.2416C>G (p.Pro806Ala) n.3692C>G | dbSNP |
17 | g.39727730C>T | CA399312904 | ERBB2 | c.3454C>T (p.Pro1152Ser) c.3364C>T (p.Pro1122Ser) c.2626C>T (p.Pro876Ser) c.3409C>T (p.Pro1137Ser) c.*3244C>T (n.*3244C>T) c.*33C>T (n.*33C>T) n.3778C>T c.3592C>T (p.Pro1198Ser) c.3547C>T (p.Pro1183Ser) c.3502C>T (p.Pro1168Ser) c.3571C>T (p.Pro1191Ser) c.3556C>T (p.Pro1186Ser) c.3535C>T (p.Pro1179Ser) c.3529C>T (p.Pro1177Ser) c.3484C>T (p.Pro1162Ser) c.3475C>T (p.Pro1159Ser) c.3451C>T (p.Pro1151Ser) c.3445C>T (p.Pro1149Ser) c.3418C>T (p.Pro1140Ser) c.3412C>T (p.Pro1138Ser) c.3406C>T (p.Pro1136Ser) c.3367C>T (p.Pro1123Ser) c.3355C>T (p.Pro1119Ser) c.3298C>T (p.Pro1100Ser) c.3274C>T (p.Pro1092Ser) c.3268C>T (p.Pro1090Ser) c.3250C>T (p.Pro1084Ser) c.3196C>T (p.Pro1066Ser) c.2503C>T (p.Pro835Ser) c.2416C>T (p.Pro806Ser) n.3692C>T | dbSNP |
17 | g.39727731C>A | CA399312907 | ERBB2 | c.3455C>A (p.Pro1152His) c.3365C>A (p.Pro1122His) c.2627C>A (p.Pro876His) c.3410C>A (p.Pro1137His) c.*3245C>A (n.*3245C>A) c.*34C>A (n.*34C>A) n.3779C>A c.3593C>A (p.Pro1198His) c.3548C>A (p.Pro1183His) c.3503C>A (p.Pro1168His) c.3572C>A (p.Pro1191His) c.3557C>A (p.Pro1186His) c.3536C>A (p.Pro1179His) c.3530C>A (p.Pro1177His) c.3485C>A (p.Pro1162His) c.3476C>A (p.Pro1159His) c.3452C>A (p.Pro1151His) c.3446C>A (p.Pro1149His) c.3419C>A (p.Pro1140His) c.3413C>A (p.Pro1138His) c.3407C>A (p.Pro1136His) c.3368C>A (p.Pro1123His) c.3356C>A (p.Pro1119His) c.3299C>A (p.Pro1100His) c.3275C>A (p.Pro1092His) c.3269C>A (p.Pro1090His) c.3251C>A (p.Pro1084His) c.3197C>A (p.Pro1066His) c.2504C>A (p.Pro835His) c.2417C>A (p.Pro806His) n.3693C>A | dbSNP gnomAD v4 |
17 | g.39727731C>G | CA399312908 | ERBB2 | c.3455C>G (p.Pro1152Arg) c.3365C>G (p.Pro1122Arg) c.2627C>G (p.Pro876Arg) c.3410C>G (p.Pro1137Arg) c.*3245C>G (n.*3245C>G) c.*34C>G (n.*34C>G) n.3779C>G c.3593C>G (p.Pro1198Arg) c.3548C>G (p.Pro1183Arg) c.3503C>G (p.Pro1168Arg) c.3572C>G (p.Pro1191Arg) c.3557C>G (p.Pro1186Arg) c.3536C>G (p.Pro1179Arg) c.3530C>G (p.Pro1177Arg) c.3485C>G (p.Pro1162Arg) c.3476C>G (p.Pro1159Arg) c.3452C>G (p.Pro1151Arg) c.3446C>G (p.Pro1149Arg) c.3419C>G (p.Pro1140Arg) c.3413C>G (p.Pro1138Arg) c.3407C>G (p.Pro1136Arg) c.3368C>G (p.Pro1123Arg) c.3356C>G (p.Pro1119Arg) c.3299C>G (p.Pro1100Arg) c.3275C>G (p.Pro1092Arg) c.3269C>G (p.Pro1090Arg) c.3251C>G (p.Pro1084Arg) c.3197C>G (p.Pro1066Arg) c.2504C>G (p.Pro835Arg) c.2417C>G (p.Pro806Arg) n.3693C>G | dbSNP |
17 | g.39727731C>T | CA399312909 | ERBB2 | c.3455C>T (p.Pro1152Leu) c.3365C>T (p.Pro1122Leu) c.2627C>T (p.Pro876Leu) c.3410C>T (p.Pro1137Leu) c.*3245C>T (n.*3245C>T) c.*34C>T (n.*34C>T) n.3779C>T c.3593C>T (p.Pro1198Leu) c.3548C>T (p.Pro1183Leu) c.3503C>T (p.Pro1168Leu) c.3572C>T (p.Pro1191Leu) c.3557C>T (p.Pro1186Leu) c.3536C>T (p.Pro1179Leu) c.3530C>T (p.Pro1177Leu) c.3485C>T (p.Pro1162Leu) c.3476C>T (p.Pro1159Leu) c.3452C>T (p.Pro1151Leu) c.3446C>T (p.Pro1149Leu) c.3419C>T (p.Pro1140Leu) c.3413C>T (p.Pro1138Leu) c.3407C>T (p.Pro1136Leu) c.3368C>T (p.Pro1123Leu) c.3356C>T (p.Pro1119Leu) c.3299C>T (p.Pro1100Leu) c.3275C>T (p.Pro1092Leu) c.3269C>T (p.Pro1090Leu) c.3251C>T (p.Pro1084Leu) c.3197C>T (p.Pro1066Leu) c.2504C>T (p.Pro835Leu) c.2417C>T (p.Pro806Leu) n.3693C>T | dbSNP |
17 | g.39727732C>A | CA499890541 | ERBB2 | c.3456C>A (p.Pro1152=) c.3366C>A (p.Pro1122=) c.2628C>A (p.Pro876=) c.3411C>A (p.Pro1137=) c.*3246C>A (n.*3246C>A) c.*35C>A (n.*35C>A) n.3780C>A c.3594C>A (p.Pro1198=) c.3549C>A (p.Pro1183=) c.3504C>A (p.Pro1168=) c.3573C>A (p.Pro1191=) c.3558C>A (p.Pro1186=) c.3537C>A (p.Pro1179=) c.3531C>A (p.Pro1177=) c.3486C>A (p.Pro1162=) c.3477C>A (p.Pro1159=) c.3453C>A (p.Pro1151=) c.3447C>A (p.Pro1149=) c.3420C>A (p.Pro1140=) c.3414C>A (p.Pro1138=) c.3408C>A (p.Pro1136=) c.3369C>A (p.Pro1123=) c.3357C>A (p.Pro1119=) c.3300C>A (p.Pro1100=) c.3276C>A (p.Pro1092=) c.3270C>A (p.Pro1090=) c.3252C>A (p.Pro1084=) c.3198C>A (p.Pro1066=) c.2505C>A (p.Pro835=) c.2418C>A (p.Pro806=) n.3694C>A | dbSNP |
17 | g.39727732C= | CA2259229235 | ERBB2 | c.3456C= (p.Pro1152=) c.3366C= (p.Pro1122=) c.2628C= (p.Pro876=) c.3411C= (p.Pro1137=) c.*3246C= (n.*3246C=) c.*35C= (n.*35C=) n.3780C= c.3594C= (p.Pro1198=) c.3549C= (p.Pro1183=) c.3504C= (p.Pro1168=) c.3573C= (p.Pro1191=) c.3558C= (p.Pro1186=) c.3537C= (p.Pro1179=) c.3531C= (p.Pro1177=) c.3486C= (p.Pro1162=) c.3477C= (p.Pro1159=) c.3453C= (p.Pro1151=) c.3447C= (p.Pro1149=) c.3420C= (p.Pro1140=) c.3414C= (p.Pro1138=) c.3408C= (p.Pro1136=) c.3369C= (p.Pro1123=) c.3357C= (p.Pro1119=) c.3300C= (p.Pro1100=) c.3276C= (p.Pro1092=) c.3270C= (p.Pro1090=) c.3252C= (p.Pro1084=) c.3198C= (p.Pro1066=) c.2505C= (p.Pro835=) c.2418C= (p.Pro806=) n.3694C= | |
17 | g.39727732C>G | CA499890542 | ERBB2 | c.3456C>G (p.Pro1152=) c.3366C>G (p.Pro1122=) c.2628C>G (p.Pro876=) c.3411C>G (p.Pro1137=) c.*3246C>G (n.*3246C>G) c.*35C>G (n.*35C>G) n.3780C>G c.3594C>G (p.Pro1198=) c.3549C>G (p.Pro1183=) c.3504C>G (p.Pro1168=) c.3573C>G (p.Pro1191=) c.3558C>G (p.Pro1186=) c.3537C>G (p.Pro1179=) c.3531C>G (p.Pro1177=) c.3486C>G (p.Pro1162=) c.3477C>G (p.Pro1159=) c.3453C>G (p.Pro1151=) c.3447C>G (p.Pro1149=) c.3420C>G (p.Pro1140=) c.3414C>G (p.Pro1138=) c.3408C>G (p.Pro1136=) c.3369C>G (p.Pro1123=) c.3357C>G (p.Pro1119=) c.3300C>G (p.Pro1100=) c.3276C>G (p.Pro1092=) c.3270C>G (p.Pro1090=) c.3252C>G (p.Pro1084=) c.3198C>G (p.Pro1066=) c.2505C>G (p.Pro835=) c.2418C>G (p.Pro806=) n.3694C>G | dbSNP gnomAD v4 |
17 | g.39727732C>T | CA8534565 | ERBB2 | c.3456C>T (p.Pro1152=) c.3366C>T (p.Pro1122=) c.2628C>T (p.Pro876=) c.3411C>T (p.Pro1137=) c.*3246C>T (n.*3246C>T) c.*35C>T (n.*35C>T) n.3780C>T c.3594C>T (p.Pro1198=) c.3549C>T (p.Pro1183=) c.3504C>T (p.Pro1168=) c.3573C>T (p.Pro1191=) c.3558C>T (p.Pro1186=) c.3537C>T (p.Pro1179=) c.3531C>T (p.Pro1177=) c.3486C>T (p.Pro1162=) c.3477C>T (p.Pro1159=) c.3453C>T (p.Pro1151=) c.3447C>T (p.Pro1149=) c.3420C>T (p.Pro1140=) c.3414C>T (p.Pro1138=) c.3408C>T (p.Pro1136=) c.3369C>T (p.Pro1123=) c.3357C>T (p.Pro1119=) c.3300C>T (p.Pro1100=) c.3276C>T (p.Pro1092=) c.3270C>T (p.Pro1090=) c.3252C>T (p.Pro1084=) c.3198C>T (p.Pro1066=) c.2505C>T (p.Pro835=) c.2418C>T (p.Pro806=) n.3694C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727733C>A | CA499890547 | ERBB2 | c.3457C>A (p.Arg1153=) c.3367C>A (p.Arg1123=) c.2629C>A (p.Arg877=) c.3412C>A (p.Arg1138=) c.*3247C>A (n.*3247C>A) c.*36C>A (n.*36C>A) n.3781C>A c.3595C>A (p.Arg1199=) c.3550C>A (p.Arg1184=) c.3505C>A (p.Arg1169=) c.3574C>A (p.Arg1192=) c.3559C>A (p.Arg1187=) c.3538C>A (p.Arg1180=) c.3532C>A (p.Arg1178=) c.3487C>A (p.Arg1163=) c.3478C>A (p.Arg1160=) c.3454C>A (p.Arg1152=) c.3448C>A (p.Arg1150=) c.3421C>A (p.Arg1141=) c.3415C>A (p.Arg1139=) c.3409C>A (p.Arg1137=) c.3370C>A (p.Arg1124=) c.3358C>A (p.Arg1120=) c.3301C>A (p.Arg1101=) c.3277C>A (p.Arg1093=) c.3271C>A (p.Arg1091=) c.3253C>A (p.Arg1085=) c.3199C>A (p.Arg1067=) c.2506C>A (p.Arg836=) c.2419C>A (p.Arg807=) n.3695C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727733C= | CA2259229236 | ERBB2 | c.3457C= (p.Arg1153=) c.3367C= (p.Arg1123=) c.2629C= (p.Arg877=) c.3412C= (p.Arg1138=) c.*3247C= (n.*3247C=) c.*36C= (n.*36C=) n.3781C= c.3595C= (p.Arg1199=) c.3550C= (p.Arg1184=) c.3505C= (p.Arg1169=) c.3574C= (p.Arg1192=) c.3559C= (p.Arg1187=) c.3538C= (p.Arg1180=) c.3532C= (p.Arg1178=) c.3487C= (p.Arg1163=) c.3478C= (p.Arg1160=) c.3454C= (p.Arg1152=) c.3448C= (p.Arg1150=) c.3421C= (p.Arg1141=) c.3415C= (p.Arg1139=) c.3409C= (p.Arg1137=) c.3370C= (p.Arg1124=) c.3358C= (p.Arg1120=) c.3301C= (p.Arg1101=) c.3277C= (p.Arg1093=) c.3271C= (p.Arg1091=) c.3253C= (p.Arg1085=) c.3199C= (p.Arg1067=) c.2506C= (p.Arg836=) c.2419C= (p.Arg807=) n.3695C= | |
17 | g.39727733C>G | CA399312910 | ERBB2 | c.3457C>G (p.Arg1153Gly) c.3367C>G (p.Arg1123Gly) c.2629C>G (p.Arg877Gly) c.3412C>G (p.Arg1138Gly) c.*3247C>G (n.*3247C>G) c.*36C>G (n.*36C>G) n.3781C>G c.3595C>G (p.Arg1199Gly) c.3550C>G (p.Arg1184Gly) c.3505C>G (p.Arg1169Gly) c.3574C>G (p.Arg1192Gly) c.3559C>G (p.Arg1187Gly) c.3538C>G (p.Arg1180Gly) c.3532C>G (p.Arg1178Gly) c.3487C>G (p.Arg1163Gly) c.3478C>G (p.Arg1160Gly) c.3454C>G (p.Arg1152Gly) c.3448C>G (p.Arg1150Gly) c.3421C>G (p.Arg1141Gly) c.3415C>G (p.Arg1139Gly) c.3409C>G (p.Arg1137Gly) c.3370C>G (p.Arg1124Gly) c.3358C>G (p.Arg1120Gly) c.3301C>G (p.Arg1101Gly) c.3277C>G (p.Arg1093Gly) c.3271C>G (p.Arg1091Gly) c.3253C>G (p.Arg1085Gly) c.3199C>G (p.Arg1067Gly) c.2506C>G (p.Arg836Gly) c.2419C>G (p.Arg807Gly) n.3695C>G | dbSNP |
17 | g.39727733C>T | CA399312911 | ERBB2 | c.3457C>T (p.Arg1153Ter) c.3367C>T (p.Arg1123Ter) c.2629C>T (p.Arg877Ter) c.3412C>T (p.Arg1138Ter) c.*3247C>T (n.*3247C>T) c.*36C>T (n.*36C>T) n.3781C>T c.3595C>T (p.Arg1199Ter) c.3550C>T (p.Arg1184Ter) c.3505C>T (p.Arg1169Ter) c.3574C>T (p.Arg1192Ter) c.3559C>T (p.Arg1187Ter) c.3538C>T (p.Arg1180Ter) c.3532C>T (p.Arg1178Ter) c.3487C>T (p.Arg1163Ter) c.3478C>T (p.Arg1160Ter) c.3454C>T (p.Arg1152Ter) c.3448C>T (p.Arg1150Ter) c.3421C>T (p.Arg1141Ter) c.3415C>T (p.Arg1139Ter) c.3409C>T (p.Arg1137Ter) c.3370C>T (p.Arg1124Ter) c.3358C>T (p.Arg1120Ter) c.3301C>T (p.Arg1101Ter) c.3277C>T (p.Arg1093Ter) c.3271C>T (p.Arg1091Ter) c.3253C>T (p.Arg1085Ter) c.3199C>T (p.Arg1067Ter) c.2506C>T (p.Arg836Ter) c.2419C>T (p.Arg807Ter) n.3695C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727734G>A | CA8534566 | ERBB2 | c.3458G>A (p.Arg1153Gln) c.3368G>A (p.Arg1123Gln) c.2630G>A (p.Arg877Gln) c.3413G>A (p.Arg1138Gln) c.*3248G>A (n.*3248G>A) c.*37G>A (n.*37G>A) n.3782G>A c.3596G>A (p.Arg1199Gln) c.3551G>A (p.Arg1184Gln) c.3506G>A (p.Arg1169Gln) c.3575G>A (p.Arg1192Gln) c.3560G>A (p.Arg1187Gln) c.3539G>A (p.Arg1180Gln) c.3533G>A (p.Arg1178Gln) c.3488G>A (p.Arg1163Gln) c.3479G>A (p.Arg1160Gln) c.3455G>A (p.Arg1152Gln) c.3449G>A (p.Arg1150Gln) c.3422G>A (p.Arg1141Gln) c.3416G>A (p.Arg1139Gln) c.3410G>A (p.Arg1137Gln) c.3371G>A (p.Arg1124Gln) c.3359G>A (p.Arg1120Gln) c.3302G>A (p.Arg1101Gln) c.3278G>A (p.Arg1093Gln) c.3272G>A (p.Arg1091Gln) c.3254G>A (p.Arg1085Gln) c.3200G>A (p.Arg1067Gln) c.2507G>A (p.Arg836Gln) c.2420G>A (p.Arg807Gln) n.3696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727734G>C | CA399312912 | ERBB2 | c.3458G>C (p.Arg1153Pro) c.3368G>C (p.Arg1123Pro) c.2630G>C (p.Arg877Pro) c.3413G>C (p.Arg1138Pro) c.*3248G>C (n.*3248G>C) c.*37G>C (n.*37G>C) n.3782G>C c.3596G>C (p.Arg1199Pro) c.3551G>C (p.Arg1184Pro) c.3506G>C (p.Arg1169Pro) c.3575G>C (p.Arg1192Pro) c.3560G>C (p.Arg1187Pro) c.3539G>C (p.Arg1180Pro) c.3533G>C (p.Arg1178Pro) c.3488G>C (p.Arg1163Pro) c.3479G>C (p.Arg1160Pro) c.3455G>C (p.Arg1152Pro) c.3449G>C (p.Arg1150Pro) c.3422G>C (p.Arg1141Pro) c.3416G>C (p.Arg1139Pro) c.3410G>C (p.Arg1137Pro) c.3371G>C (p.Arg1124Pro) c.3359G>C (p.Arg1120Pro) c.3302G>C (p.Arg1101Pro) c.3278G>C (p.Arg1093Pro) c.3272G>C (p.Arg1091Pro) c.3254G>C (p.Arg1085Pro) c.3200G>C (p.Arg1067Pro) c.2507G>C (p.Arg836Pro) c.2420G>C (p.Arg807Pro) n.3696G>C | dbSNP |
17 | g.39727734G= | CA2259229237 | ERBB2 | c.3458G= (p.Arg1153=) c.3368G= (p.Arg1123=) c.2630G= (p.Arg877=) c.3413G= (p.Arg1138=) c.*3248G= (n.*3248G=) c.*37G= (n.*37G=) n.3782G= c.3596G= (p.Arg1199=) c.3551G= (p.Arg1184=) c.3506G= (p.Arg1169=) c.3575G= (p.Arg1192=) c.3560G= (p.Arg1187=) c.3539G= (p.Arg1180=) c.3533G= (p.Arg1178=) c.3488G= (p.Arg1163=) c.3479G= (p.Arg1160=) c.3455G= (p.Arg1152=) c.3449G= (p.Arg1150=) c.3422G= (p.Arg1141=) c.3416G= (p.Arg1139=) c.3410G= (p.Arg1137=) c.3371G= (p.Arg1124=) c.3359G= (p.Arg1120=) c.3302G= (p.Arg1101=) c.3278G= (p.Arg1093=) c.3272G= (p.Arg1091=) c.3254G= (p.Arg1085=) c.3200G= (p.Arg1067=) c.2507G= (p.Arg836=) c.2420G= (p.Arg807=) n.3696G= | |
17 | g.39727734G>T | CA399312913 | ERBB2 | c.3458G>T (p.Arg1153Leu) c.3368G>T (p.Arg1123Leu) c.2630G>T (p.Arg877Leu) c.3413G>T (p.Arg1138Leu) c.*3248G>T (n.*3248G>T) c.*37G>T (n.*37G>T) n.3782G>T c.3596G>T (p.Arg1199Leu) c.3551G>T (p.Arg1184Leu) c.3506G>T (p.Arg1169Leu) c.3575G>T (p.Arg1192Leu) c.3560G>T (p.Arg1187Leu) c.3539G>T (p.Arg1180Leu) c.3533G>T (p.Arg1178Leu) c.3488G>T (p.Arg1163Leu) c.3479G>T (p.Arg1160Leu) c.3455G>T (p.Arg1152Leu) c.3449G>T (p.Arg1150Leu) c.3422G>T (p.Arg1141Leu) c.3416G>T (p.Arg1139Leu) c.3410G>T (p.Arg1137Leu) c.3371G>T (p.Arg1124Leu) c.3359G>T (p.Arg1120Leu) c.3302G>T (p.Arg1101Leu) c.3278G>T (p.Arg1093Leu) c.3272G>T (p.Arg1091Leu) c.3254G>T (p.Arg1085Leu) c.3200G>T (p.Arg1067Leu) c.2507G>T (p.Arg836Leu) c.2420G>T (p.Arg807Leu) n.3696G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727735A= | CA2259229238 | ERBB2 | c.3459A= (p.Arg1153=) c.3369A= (p.Arg1123=) c.2631A= (p.Arg877=) c.3414A= (p.Arg1138=) c.*3249A= (n.*3249A=) c.*38A= (n.*38A=) n.3783A= c.3597A= (p.Arg1199=) c.3552A= (p.Arg1184=) c.3507A= (p.Arg1169=) c.3576A= (p.Arg1192=) c.3561A= (p.Arg1187=) c.3540A= (p.Arg1180=) c.3534A= (p.Arg1178=) c.3489A= (p.Arg1163=) c.3480A= (p.Arg1160=) c.3456A= (p.Arg1152=) c.3450A= (p.Arg1150=) c.3423A= (p.Arg1141=) c.3417A= (p.Arg1139=) c.3411A= (p.Arg1137=) c.3372A= (p.Arg1124=) c.3360A= (p.Arg1120=) c.3303A= (p.Arg1101=) c.3279A= (p.Arg1093=) c.3273A= (p.Arg1091=) c.3255A= (p.Arg1085=) c.3201A= (p.Arg1067=) c.2508A= (p.Arg836=) c.2421A= (p.Arg807=) n.3697A= | |
17 | g.39727735A>C | CA8534567 | ERBB2 | c.3459A>C (p.Arg1153=) c.3369A>C (p.Arg1123=) c.2631A>C (p.Arg877=) c.3414A>C (p.Arg1138=) c.*3249A>C (n.*3249A>C) c.*38A>C (n.*38A>C) n.3783A>C c.3597A>C (p.Arg1199=) c.3552A>C (p.Arg1184=) c.3507A>C (p.Arg1169=) c.3576A>C (p.Arg1192=) c.3561A>C (p.Arg1187=) c.3540A>C (p.Arg1180=) c.3534A>C (p.Arg1178=) c.3489A>C (p.Arg1163=) c.3480A>C (p.Arg1160=) c.3456A>C (p.Arg1152=) c.3450A>C (p.Arg1150=) c.3423A>C (p.Arg1141=) c.3417A>C (p.Arg1139=) c.3411A>C (p.Arg1137=) c.3372A>C (p.Arg1124=) c.3360A>C (p.Arg1120=) c.3303A>C (p.Arg1101=) c.3279A>C (p.Arg1093=) c.3273A>C (p.Arg1091=) c.3255A>C (p.Arg1085=) c.3201A>C (p.Arg1067=) c.2508A>C (p.Arg836=) c.2421A>C (p.Arg807=) n.3697A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727735A>G | CA499890550 | ERBB2 | c.3459A>G (p.Arg1153=) c.3369A>G (p.Arg1123=) c.2631A>G (p.Arg877=) c.3414A>G (p.Arg1138=) c.*3249A>G (n.*3249A>G) c.*38A>G (n.*38A>G) n.3783A>G c.3597A>G (p.Arg1199=) c.3552A>G (p.Arg1184=) c.3507A>G (p.Arg1169=) c.3576A>G (p.Arg1192=) c.3561A>G (p.Arg1187=) c.3540A>G (p.Arg1180=) c.3534A>G (p.Arg1178=) c.3489A>G (p.Arg1163=) c.3480A>G (p.Arg1160=) c.3456A>G (p.Arg1152=) c.3450A>G (p.Arg1150=) c.3423A>G (p.Arg1141=) c.3417A>G (p.Arg1139=) c.3411A>G (p.Arg1137=) c.3372A>G (p.Arg1124=) c.3360A>G (p.Arg1120=) c.3303A>G (p.Arg1101=) c.3279A>G (p.Arg1093=) c.3273A>G (p.Arg1091=) c.3255A>G (p.Arg1085=) c.3201A>G (p.Arg1067=) c.2508A>G (p.Arg836=) c.2421A>G (p.Arg807=) n.3697A>G | dbSNP gnomAD v4 |
17 | g.39727735A>T | CA499890552 | ERBB2 | c.3459A>T (p.Arg1153=) c.3369A>T (p.Arg1123=) c.2631A>T (p.Arg877=) c.3414A>T (p.Arg1138=) c.*3249A>T (n.*3249A>T) c.*38A>T (n.*38A>T) n.3783A>T c.3597A>T (p.Arg1199=) c.3552A>T (p.Arg1184=) c.3507A>T (p.Arg1169=) c.3576A>T (p.Arg1192=) c.3561A>T (p.Arg1187=) c.3540A>T (p.Arg1180=) c.3534A>T (p.Arg1178=) c.3489A>T (p.Arg1163=) c.3480A>T (p.Arg1160=) c.3456A>T (p.Arg1152=) c.3450A>T (p.Arg1150=) c.3423A>T (p.Arg1141=) c.3417A>T (p.Arg1139=) c.3411A>T (p.Arg1137=) c.3372A>T (p.Arg1124=) c.3360A>T (p.Arg1120=) c.3303A>T (p.Arg1101=) c.3279A>T (p.Arg1093=) c.3273A>T (p.Arg1091=) c.3255A>T (p.Arg1085=) c.3201A>T (p.Arg1067=) c.2508A>T (p.Arg836=) c.2421A>T (p.Arg807=) n.3697A>T | dbSNP |
17 | g.39727736G>A | CA399312914 | ERBB2 | c.3460G>A (p.Glu1154Lys) c.3370G>A (p.Glu1124Lys) c.2632G>A (p.Glu878Lys) c.3415G>A (p.Glu1139Lys) c.*3250G>A (n.*3250G>A) c.*39G>A (n.*39G>A) n.3784G>A c.3598G>A (p.Glu1200Lys) c.3553G>A (p.Glu1185Lys) c.3508G>A (p.Glu1170Lys) c.3577G>A (p.Glu1193Lys) c.3562G>A (p.Glu1188Lys) c.3541G>A (p.Glu1181Lys) c.3535G>A (p.Glu1179Lys) c.3490G>A (p.Glu1164Lys) c.3481G>A (p.Glu1161Lys) c.3457G>A (p.Glu1153Lys) c.3451G>A (p.Glu1151Lys) c.3424G>A (p.Glu1142Lys) c.3418G>A (p.Glu1140Lys) c.3412G>A (p.Glu1138Lys) c.3373G>A (p.Glu1125Lys) c.3361G>A (p.Glu1121Lys) c.3304G>A (p.Glu1102Lys) c.3280G>A (p.Glu1094Lys) c.3274G>A (p.Glu1092Lys) c.3256G>A (p.Glu1086Lys) c.3202G>A (p.Glu1068Lys) c.2509G>A (p.Glu837Lys) c.2422G>A (p.Glu808Lys) n.3698G>A | dbSNP |
17 | g.39727736G>C | CA399312915 | ERBB2 | c.3460G>C (p.Glu1154Gln) c.3370G>C (p.Glu1124Gln) c.2632G>C (p.Glu878Gln) c.3415G>C (p.Glu1139Gln) c.*3250G>C (n.*3250G>C) c.*39G>C (n.*39G>C) n.3784G>C c.3598G>C (p.Glu1200Gln) c.3553G>C (p.Glu1185Gln) c.3508G>C (p.Glu1170Gln) c.3577G>C (p.Glu1193Gln) c.3562G>C (p.Glu1188Gln) c.3541G>C (p.Glu1181Gln) c.3535G>C (p.Glu1179Gln) c.3490G>C (p.Glu1164Gln) c.3481G>C (p.Glu1161Gln) c.3457G>C (p.Glu1153Gln) c.3451G>C (p.Glu1151Gln) c.3424G>C (p.Glu1142Gln) c.3418G>C (p.Glu1140Gln) c.3412G>C (p.Glu1138Gln) c.3373G>C (p.Glu1125Gln) c.3361G>C (p.Glu1121Gln) c.3304G>C (p.Glu1102Gln) c.3280G>C (p.Glu1094Gln) c.3274G>C (p.Glu1092Gln) c.3256G>C (p.Glu1086Gln) c.3202G>C (p.Glu1068Gln) c.2509G>C (p.Glu837Gln) c.2422G>C (p.Glu808Gln) n.3698G>C | dbSNP |
17 | g.39727736G>T | CA399312916 | ERBB2 | c.3460G>T (p.Glu1154Ter) c.3370G>T (p.Glu1124Ter) c.2632G>T (p.Glu878Ter) c.3415G>T (p.Glu1139Ter) c.*3250G>T (n.*3250G>T) c.*39G>T (n.*39G>T) n.3784G>T c.3598G>T (p.Glu1200Ter) c.3553G>T (p.Glu1185Ter) c.3508G>T (p.Glu1170Ter) c.3577G>T (p.Glu1193Ter) c.3562G>T (p.Glu1188Ter) c.3541G>T (p.Glu1181Ter) c.3535G>T (p.Glu1179Ter) c.3490G>T (p.Glu1164Ter) c.3481G>T (p.Glu1161Ter) c.3457G>T (p.Glu1153Ter) c.3451G>T (p.Glu1151Ter) c.3424G>T (p.Glu1142Ter) c.3418G>T (p.Glu1140Ter) c.3412G>T (p.Glu1138Ter) c.3373G>T (p.Glu1125Ter) c.3361G>T (p.Glu1121Ter) c.3304G>T (p.Glu1102Ter) c.3280G>T (p.Glu1094Ter) c.3274G>T (p.Glu1092Ter) c.3256G>T (p.Glu1086Ter) c.3202G>T (p.Glu1068Ter) c.2509G>T (p.Glu837Ter) c.2422G>T (p.Glu808Ter) n.3698G>T | dbSNP |
17 | g.39727737A>C | CA399312919 | ERBB2 | c.3461A>C (p.Glu1154Ala) c.3371A>C (p.Glu1124Ala) c.2633A>C (p.Glu878Ala) c.3416A>C (p.Glu1139Ala) c.*3251A>C (n.*3251A>C) c.*40A>C (n.*40A>C) n.3785A>C c.3599A>C (p.Glu1200Ala) c.3554A>C (p.Glu1185Ala) c.3509A>C (p.Glu1170Ala) c.3578A>C (p.Glu1193Ala) c.3563A>C (p.Glu1188Ala) c.3542A>C (p.Glu1181Ala) c.3536A>C (p.Glu1179Ala) c.3491A>C (p.Glu1164Ala) c.3482A>C (p.Glu1161Ala) c.3458A>C (p.Glu1153Ala) c.3452A>C (p.Glu1151Ala) c.3425A>C (p.Glu1142Ala) c.3419A>C (p.Glu1140Ala) c.3413A>C (p.Glu1138Ala) c.3374A>C (p.Glu1125Ala) c.3362A>C (p.Glu1121Ala) c.3305A>C (p.Glu1102Ala) c.3281A>C (p.Glu1094Ala) c.3275A>C (p.Glu1092Ala) c.3257A>C (p.Glu1086Ala) c.3203A>C (p.Glu1068Ala) c.2510A>C (p.Glu837Ala) c.2423A>C (p.Glu808Ala) n.3699A>C | dbSNP |
17 | g.39727737A>G | CA399312918 | ERBB2 | c.3461A>G (p.Glu1154Gly) c.3371A>G (p.Glu1124Gly) c.2633A>G (p.Glu878Gly) c.3416A>G (p.Glu1139Gly) c.*3251A>G (n.*3251A>G) c.*40A>G (n.*40A>G) n.3785A>G c.3599A>G (p.Glu1200Gly) c.3554A>G (p.Glu1185Gly) c.3509A>G (p.Glu1170Gly) c.3578A>G (p.Glu1193Gly) c.3563A>G (p.Glu1188Gly) c.3542A>G (p.Glu1181Gly) c.3536A>G (p.Glu1179Gly) c.3491A>G (p.Glu1164Gly) c.3482A>G (p.Glu1161Gly) c.3458A>G (p.Glu1153Gly) c.3452A>G (p.Glu1151Gly) c.3425A>G (p.Glu1142Gly) c.3419A>G (p.Glu1140Gly) c.3413A>G (p.Glu1138Gly) c.3374A>G (p.Glu1125Gly) c.3362A>G (p.Glu1121Gly) c.3305A>G (p.Glu1102Gly) c.3281A>G (p.Glu1094Gly) c.3275A>G (p.Glu1092Gly) c.3257A>G (p.Glu1086Gly) c.3203A>G (p.Glu1068Gly) c.2510A>G (p.Glu837Gly) c.2423A>G (p.Glu808Gly) n.3699A>G | dbSNP |
17 | g.39727737A>T | CA399312917 | ERBB2 | c.3461A>T (p.Glu1154Val) c.3371A>T (p.Glu1124Val) c.2633A>T (p.Glu878Val) c.3416A>T (p.Glu1139Val) c.*3251A>T (n.*3251A>T) c.*40A>T (n.*40A>T) n.3785A>T c.3599A>T (p.Glu1200Val) c.3554A>T (p.Glu1185Val) c.3509A>T (p.Glu1170Val) c.3578A>T (p.Glu1193Val) c.3563A>T (p.Glu1188Val) c.3542A>T (p.Glu1181Val) c.3536A>T (p.Glu1179Val) c.3491A>T (p.Glu1164Val) c.3482A>T (p.Glu1161Val) c.3458A>T (p.Glu1153Val) c.3452A>T (p.Glu1151Val) c.3425A>T (p.Glu1142Val) c.3419A>T (p.Glu1140Val) c.3413A>T (p.Glu1138Val) c.3374A>T (p.Glu1125Val) c.3362A>T (p.Glu1121Val) c.3305A>T (p.Glu1102Val) c.3281A>T (p.Glu1094Val) c.3275A>T (p.Glu1092Val) c.3257A>T (p.Glu1086Val) c.3203A>T (p.Glu1068Val) c.2510A>T (p.Glu837Val) c.2423A>T (p.Glu808Val) n.3699A>T | dbSNP |
17 | g.39727738G>A | CA499890556 | ERBB2 | c.3462G>A (p.Glu1154=) c.3372G>A (p.Glu1124=) c.2634G>A (p.Glu878=) c.3417G>A (p.Glu1139=) c.*3252G>A (n.*3252G>A) c.*41G>A (n.*41G>A) n.3786G>A c.3600G>A (p.Glu1200=) c.3555G>A (p.Glu1185=) c.3510G>A (p.Glu1170=) c.3579G>A (p.Glu1193=) c.3564G>A (p.Glu1188=) c.3543G>A (p.Glu1181=) c.3537G>A (p.Glu1179=) c.3492G>A (p.Glu1164=) c.3483G>A (p.Glu1161=) c.3459G>A (p.Glu1153=) c.3453G>A (p.Glu1151=) c.3426G>A (p.Glu1142=) c.3420G>A (p.Glu1140=) c.3414G>A (p.Glu1138=) c.3375G>A (p.Glu1125=) c.3363G>A (p.Glu1121=) c.3306G>A (p.Glu1102=) c.3282G>A (p.Glu1094=) c.3276G>A (p.Glu1092=) c.3258G>A (p.Glu1086=) c.3204G>A (p.Glu1068=) c.2511G>A (p.Glu837=) c.2424G>A (p.Glu808=) n.3700G>A | dbSNP |
17 | g.39727738G>C | CA399312921 | ERBB2 | c.3462G>C (p.Glu1154Asp) c.3372G>C (p.Glu1124Asp) c.2634G>C (p.Glu878Asp) c.3417G>C (p.Glu1139Asp) c.*3252G>C (n.*3252G>C) c.*41G>C (n.*41G>C) n.3786G>C c.3600G>C (p.Glu1200Asp) c.3555G>C (p.Glu1185Asp) c.3510G>C (p.Glu1170Asp) c.3579G>C (p.Glu1193Asp) c.3564G>C (p.Glu1188Asp) c.3543G>C (p.Glu1181Asp) c.3537G>C (p.Glu1179Asp) c.3492G>C (p.Glu1164Asp) c.3483G>C (p.Glu1161Asp) c.3459G>C (p.Glu1153Asp) c.3453G>C (p.Glu1151Asp) c.3426G>C (p.Glu1142Asp) c.3420G>C (p.Glu1140Asp) c.3414G>C (p.Glu1138Asp) c.3375G>C (p.Glu1125Asp) c.3363G>C (p.Glu1121Asp) c.3306G>C (p.Glu1102Asp) c.3282G>C (p.Glu1094Asp) c.3276G>C (p.Glu1092Asp) c.3258G>C (p.Glu1086Asp) c.3204G>C (p.Glu1068Asp) c.2511G>C (p.Glu837Asp) c.2424G>C (p.Glu808Asp) n.3700G>C | dbSNP |
17 | g.39727738G>T | CA399312922 | ERBB2 | c.3462G>T (p.Glu1154Asp) c.3372G>T (p.Glu1124Asp) c.2634G>T (p.Glu878Asp) c.3417G>T (p.Glu1139Asp) c.*3252G>T (n.*3252G>T) c.*41G>T (n.*41G>T) n.3786G>T c.3600G>T (p.Glu1200Asp) c.3555G>T (p.Glu1185Asp) c.3510G>T (p.Glu1170Asp) c.3579G>T (p.Glu1193Asp) c.3564G>T (p.Glu1188Asp) c.3543G>T (p.Glu1181Asp) c.3537G>T (p.Glu1179Asp) c.3492G>T (p.Glu1164Asp) c.3483G>T (p.Glu1161Asp) c.3459G>T (p.Glu1153Asp) c.3453G>T (p.Glu1151Asp) c.3426G>T (p.Glu1142Asp) c.3420G>T (p.Glu1140Asp) c.3414G>T (p.Glu1138Asp) c.3375G>T (p.Glu1125Asp) c.3363G>T (p.Glu1121Asp) c.3306G>T (p.Glu1102Asp) c.3282G>T (p.Glu1094Asp) c.3276G>T (p.Glu1092Asp) c.3258G>T (p.Glu1086Asp) c.3204G>T (p.Glu1068Asp) c.2511G>T (p.Glu837Asp) c.2424G>T (p.Glu808Asp) n.3700G>T | dbSNP |
17 | g.39727739G>A | CA290443830 | ERBB2 | c.3463G>A (p.Gly1155Ser) c.3373G>A (p.Gly1125Ser) c.2635G>A (p.Gly879Ser) c.3418G>A (p.Gly1140Ser) c.*3253G>A (n.*3253G>A) c.*42G>A (n.*42G>A) n.3787G>A c.3601G>A (p.Gly1201Ser) c.3556G>A (p.Gly1186Ser) c.3511G>A (p.Gly1171Ser) c.3580G>A (p.Gly1194Ser) c.3565G>A (p.Gly1189Ser) c.3544G>A (p.Gly1182Ser) c.3538G>A (p.Gly1180Ser) c.3493G>A (p.Gly1165Ser) c.3484G>A (p.Gly1162Ser) c.3460G>A (p.Gly1154Ser) c.3454G>A (p.Gly1152Ser) c.3427G>A (p.Gly1143Ser) c.3421G>A (p.Gly1141Ser) c.3415G>A (p.Gly1139Ser) c.3376G>A (p.Gly1126Ser) c.3364G>A (p.Gly1122Ser) c.3307G>A (p.Gly1103Ser) c.3283G>A (p.Gly1095Ser) c.3277G>A (p.Gly1093Ser) c.3259G>A (p.Gly1087Ser) c.3205G>A (p.Gly1069Ser) c.2512G>A (p.Gly838Ser) c.2425G>A (p.Gly809Ser) n.3701G>A | dbSNP |
17 | g.39727739G>C | CA399312923 | ERBB2 | c.3463G>C (p.Gly1155Arg) c.3373G>C (p.Gly1125Arg) c.2635G>C (p.Gly879Arg) c.3418G>C (p.Gly1140Arg) c.*3253G>C (n.*3253G>C) c.*42G>C (n.*42G>C) n.3787G>C c.3601G>C (p.Gly1201Arg) c.3556G>C (p.Gly1186Arg) c.3511G>C (p.Gly1171Arg) c.3580G>C (p.Gly1194Arg) c.3565G>C (p.Gly1189Arg) c.3544G>C (p.Gly1182Arg) c.3538G>C (p.Gly1180Arg) c.3493G>C (p.Gly1165Arg) c.3484G>C (p.Gly1162Arg) c.3460G>C (p.Gly1154Arg) c.3454G>C (p.Gly1152Arg) c.3427G>C (p.Gly1143Arg) c.3421G>C (p.Gly1141Arg) c.3415G>C (p.Gly1139Arg) c.3376G>C (p.Gly1126Arg) c.3364G>C (p.Gly1122Arg) c.3307G>C (p.Gly1103Arg) c.3283G>C (p.Gly1095Arg) c.3277G>C (p.Gly1093Arg) c.3259G>C (p.Gly1087Arg) c.3205G>C (p.Gly1069Arg) c.2512G>C (p.Gly838Arg) c.2425G>C (p.Gly809Arg) n.3701G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727739G= | CA2259229239 | ERBB2 | c.3463G= (p.Gly1155=) c.3373G= (p.Gly1125=) c.2635G= (p.Gly879=) c.3418G= (p.Gly1140=) c.*3253G= (n.*3253G=) c.*42G= (n.*42G=) n.3787G= c.3601G= (p.Gly1201=) c.3556G= (p.Gly1186=) c.3511G= (p.Gly1171=) c.3580G= (p.Gly1194=) c.3565G= (p.Gly1189=) c.3544G= (p.Gly1182=) c.3538G= (p.Gly1180=) c.3493G= (p.Gly1165=) c.3484G= (p.Gly1162=) c.3460G= (p.Gly1154=) c.3454G= (p.Gly1152=) c.3427G= (p.Gly1143=) c.3421G= (p.Gly1141=) c.3415G= (p.Gly1139=) c.3376G= (p.Gly1126=) c.3364G= (p.Gly1122=) c.3307G= (p.Gly1103=) c.3283G= (p.Gly1095=) c.3277G= (p.Gly1093=) c.3259G= (p.Gly1087=) c.3205G= (p.Gly1069=) c.2512G= (p.Gly838=) c.2425G= (p.Gly809=) n.3701G= | |
17 | g.39727739G>T | CA8534568 | ERBB2 | c.3463G>T (p.Gly1155Cys) c.3373G>T (p.Gly1125Cys) c.2635G>T (p.Gly879Cys) c.3418G>T (p.Gly1140Cys) c.*3253G>T (n.*3253G>T) c.*42G>T (n.*42G>T) n.3787G>T c.3601G>T (p.Gly1201Cys) c.3556G>T (p.Gly1186Cys) c.3511G>T (p.Gly1171Cys) c.3580G>T (p.Gly1194Cys) c.3565G>T (p.Gly1189Cys) c.3544G>T (p.Gly1182Cys) c.3538G>T (p.Gly1180Cys) c.3493G>T (p.Gly1165Cys) c.3484G>T (p.Gly1162Cys) c.3460G>T (p.Gly1154Cys) c.3454G>T (p.Gly1152Cys) c.3427G>T (p.Gly1143Cys) c.3421G>T (p.Gly1141Cys) c.3415G>T (p.Gly1139Cys) c.3376G>T (p.Gly1126Cys) c.3364G>T (p.Gly1122Cys) c.3307G>T (p.Gly1103Cys) c.3283G>T (p.Gly1095Cys) c.3277G>T (p.Gly1093Cys) c.3259G>T (p.Gly1087Cys) c.3205G>T (p.Gly1069Cys) c.2512G>T (p.Gly838Cys) c.2425G>T (p.Gly809Cys) n.3701G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727740G>A | CA399312925 | ERBB2 | c.3464G>A (p.Gly1155Asp) c.3374G>A (p.Gly1125Asp) c.2636G>A (p.Gly879Asp) c.3419G>A (p.Gly1140Asp) c.*3254G>A (n.*3254G>A) c.*43G>A (n.*43G>A) n.3788G>A c.3602G>A (p.Gly1201Asp) c.3557G>A (p.Gly1186Asp) c.3512G>A (p.Gly1171Asp) c.3581G>A (p.Gly1194Asp) c.3566G>A (p.Gly1189Asp) c.3545G>A (p.Gly1182Asp) c.3539G>A (p.Gly1180Asp) c.3494G>A (p.Gly1165Asp) c.3485G>A (p.Gly1162Asp) c.3461G>A (p.Gly1154Asp) c.3455G>A (p.Gly1152Asp) c.3428G>A (p.Gly1143Asp) c.3422G>A (p.Gly1141Asp) c.3416G>A (p.Gly1139Asp) c.3377G>A (p.Gly1126Asp) c.3365G>A (p.Gly1122Asp) c.3308G>A (p.Gly1103Asp) c.3284G>A (p.Gly1095Asp) c.3278G>A (p.Gly1093Asp) c.3260G>A (p.Gly1087Asp) c.3206G>A (p.Gly1069Asp) c.2513G>A (p.Gly838Asp) c.2426G>A (p.Gly809Asp) n.3702G>A | dbSNP gnomAD v4 |
17 | g.39727740G>C | CA399312927 | ERBB2 | c.3464G>C (p.Gly1155Ala) c.3374G>C (p.Gly1125Ala) c.2636G>C (p.Gly879Ala) c.3419G>C (p.Gly1140Ala) c.*3254G>C (n.*3254G>C) c.*43G>C (n.*43G>C) n.3788G>C c.3602G>C (p.Gly1201Ala) c.3557G>C (p.Gly1186Ala) c.3512G>C (p.Gly1171Ala) c.3581G>C (p.Gly1194Ala) c.3566G>C (p.Gly1189Ala) c.3545G>C (p.Gly1182Ala) c.3539G>C (p.Gly1180Ala) c.3494G>C (p.Gly1165Ala) c.3485G>C (p.Gly1162Ala) c.3461G>C (p.Gly1154Ala) c.3455G>C (p.Gly1152Ala) c.3428G>C (p.Gly1143Ala) c.3422G>C (p.Gly1141Ala) c.3416G>C (p.Gly1139Ala) c.3377G>C (p.Gly1126Ala) c.3365G>C (p.Gly1122Ala) c.3308G>C (p.Gly1103Ala) c.3284G>C (p.Gly1095Ala) c.3278G>C (p.Gly1093Ala) c.3260G>C (p.Gly1087Ala) c.3206G>C (p.Gly1069Ala) c.2513G>C (p.Gly838Ala) c.2426G>C (p.Gly809Ala) n.3702G>C | dbSNP |
17 | g.39727740G= | CA2259229240 | ERBB2 | c.3464G= (p.Gly1155=) c.3374G= (p.Gly1125=) c.2636G= (p.Gly879=) c.3419G= (p.Gly1140=) c.*3254G= (n.*3254G=) c.*43G= (n.*43G=) n.3788G= c.3602G= (p.Gly1201=) c.3557G= (p.Gly1186=) c.3512G= (p.Gly1171=) c.3581G= (p.Gly1194=) c.3566G= (p.Gly1189=) c.3545G= (p.Gly1182=) c.3539G= (p.Gly1180=) c.3494G= (p.Gly1165=) c.3485G= (p.Gly1162=) c.3461G= (p.Gly1154=) c.3455G= (p.Gly1152=) c.3428G= (p.Gly1143=) c.3422G= (p.Gly1141=) c.3416G= (p.Gly1139=) c.3377G= (p.Gly1126=) c.3365G= (p.Gly1122=) c.3308G= (p.Gly1103=) c.3284G= (p.Gly1095=) c.3278G= (p.Gly1093=) c.3260G= (p.Gly1087=) c.3206G= (p.Gly1069=) c.2513G= (p.Gly838=) c.2426G= (p.Gly809=) n.3702G= | |
17 | g.39727740G>T | CA399312930 | ERBB2 | c.3464G>T (p.Gly1155Val) c.3374G>T (p.Gly1125Val) c.2636G>T (p.Gly879Val) c.3419G>T (p.Gly1140Val) c.*3254G>T (n.*3254G>T) c.*43G>T (n.*43G>T) n.3788G>T c.3602G>T (p.Gly1201Val) c.3557G>T (p.Gly1186Val) c.3512G>T (p.Gly1171Val) c.3581G>T (p.Gly1194Val) c.3566G>T (p.Gly1189Val) c.3545G>T (p.Gly1182Val) c.3539G>T (p.Gly1180Val) c.3494G>T (p.Gly1165Val) c.3485G>T (p.Gly1162Val) c.3461G>T (p.Gly1154Val) c.3455G>T (p.Gly1152Val) c.3428G>T (p.Gly1143Val) c.3422G>T (p.Gly1141Val) c.3416G>T (p.Gly1139Val) c.3377G>T (p.Gly1126Val) c.3365G>T (p.Gly1122Val) c.3308G>T (p.Gly1103Val) c.3284G>T (p.Gly1095Val) c.3278G>T (p.Gly1093Val) c.3260G>T (p.Gly1087Val) c.3206G>T (p.Gly1069Val) c.2513G>T (p.Gly838Val) c.2426G>T (p.Gly809Val) n.3702G>T | dbSNP gnomAD v2 |
17 | g.39727741C>A | CA499890562 | ERBB2 | c.3465C>A (p.Gly1155=) c.3375C>A (p.Gly1125=) c.2637C>A (p.Gly879=) c.3420C>A (p.Gly1140=) c.*3255C>A (n.*3255C>A) c.*44C>A (n.*44C>A) n.3789C>A c.3603C>A (p.Gly1201=) c.3558C>A (p.Gly1186=) c.3513C>A (p.Gly1171=) c.3582C>A (p.Gly1194=) c.3567C>A (p.Gly1189=) c.3546C>A (p.Gly1182=) c.3540C>A (p.Gly1180=) c.3495C>A (p.Gly1165=) c.3486C>A (p.Gly1162=) c.3462C>A (p.Gly1154=) c.3456C>A (p.Gly1152=) c.3429C>A (p.Gly1143=) c.3423C>A (p.Gly1141=) c.3417C>A (p.Gly1139=) c.3378C>A (p.Gly1126=) c.3366C>A (p.Gly1122=) c.3309C>A (p.Gly1103=) c.3285C>A (p.Gly1095=) c.3279C>A (p.Gly1093=) c.3261C>A (p.Gly1087=) c.3207C>A (p.Gly1069=) c.2514C>A (p.Gly838=) c.2427C>A (p.Gly809=) n.3703C>A | dbSNP |
17 | g.39727741C= | CA2259229241 | ERBB2 | c.3465C= (p.Gly1155=) c.3375C= (p.Gly1125=) c.2637C= (p.Gly879=) c.3420C= (p.Gly1140=) c.*3255C= (n.*3255C=) c.*44C= (n.*44C=) n.3789C= c.3603C= (p.Gly1201=) c.3558C= (p.Gly1186=) c.3513C= (p.Gly1171=) c.3582C= (p.Gly1194=) c.3567C= (p.Gly1189=) c.3546C= (p.Gly1182=) c.3540C= (p.Gly1180=) c.3495C= (p.Gly1165=) c.3486C= (p.Gly1162=) c.3462C= (p.Gly1154=) c.3456C= (p.Gly1152=) c.3429C= (p.Gly1143=) c.3423C= (p.Gly1141=) c.3417C= (p.Gly1139=) c.3378C= (p.Gly1126=) c.3366C= (p.Gly1122=) c.3309C= (p.Gly1103=) c.3285C= (p.Gly1095=) c.3279C= (p.Gly1093=) c.3261C= (p.Gly1087=) c.3207C= (p.Gly1069=) c.2514C= (p.Gly838=) c.2427C= (p.Gly809=) n.3703C= | |
17 | g.39727741C>G | CA499890563 | ERBB2 | c.3465C>G (p.Gly1155=) c.3375C>G (p.Gly1125=) c.2637C>G (p.Gly879=) c.3420C>G (p.Gly1140=) c.*3255C>G (n.*3255C>G) c.*44C>G (n.*44C>G) n.3789C>G c.3603C>G (p.Gly1201=) c.3558C>G (p.Gly1186=) c.3513C>G (p.Gly1171=) c.3582C>G (p.Gly1194=) c.3567C>G (p.Gly1189=) c.3546C>G (p.Gly1182=) c.3540C>G (p.Gly1180=) c.3495C>G (p.Gly1165=) c.3486C>G (p.Gly1162=) c.3462C>G (p.Gly1154=) c.3456C>G (p.Gly1152=) c.3429C>G (p.Gly1143=) c.3423C>G (p.Gly1141=) c.3417C>G (p.Gly1139=) c.3378C>G (p.Gly1126=) c.3366C>G (p.Gly1122=) c.3309C>G (p.Gly1103=) c.3285C>G (p.Gly1095=) c.3279C>G (p.Gly1093=) c.3261C>G (p.Gly1087=) c.3207C>G (p.Gly1069=) c.2514C>G (p.Gly838=) c.2427C>G (p.Gly809=) n.3703C>G | dbSNP |
17 | g.39727741C>T | CA499890565 | ERBB2 | c.3465C>T (p.Gly1155=) c.3375C>T (p.Gly1125=) c.2637C>T (p.Gly879=) c.3420C>T (p.Gly1140=) c.*3255C>T (n.*3255C>T) c.*44C>T (n.*44C>T) n.3789C>T c.3603C>T (p.Gly1201=) c.3558C>T (p.Gly1186=) c.3513C>T (p.Gly1171=) c.3582C>T (p.Gly1194=) c.3567C>T (p.Gly1189=) c.3546C>T (p.Gly1182=) c.3540C>T (p.Gly1180=) c.3495C>T (p.Gly1165=) c.3486C>T (p.Gly1162=) c.3462C>T (p.Gly1154=) c.3456C>T (p.Gly1152=) c.3429C>T (p.Gly1143=) c.3423C>T (p.Gly1141=) c.3417C>T (p.Gly1139=) c.3378C>T (p.Gly1126=) c.3366C>T (p.Gly1122=) c.3309C>T (p.Gly1103=) c.3285C>T (p.Gly1095=) c.3279C>T (p.Gly1093=) c.3261C>T (p.Gly1087=) c.3207C>T (p.Gly1069=) c.2514C>T (p.Gly838=) c.2427C>T (p.Gly809=) n.3703C>T | dbSNP gnomAD v4 |
17 | g.39727742C>A | CA399312934 | ERBB2 | c.3466C>A (p.Pro1156Thr) c.3376C>A (p.Pro1126Thr) c.2638C>A (p.Pro880Thr) c.3421C>A (p.Pro1141Thr) c.*3256C>A (n.*3256C>A) c.*45C>A (n.*45C>A) n.3790C>A c.3604C>A (p.Pro1202Thr) c.3559C>A (p.Pro1187Thr) c.3514C>A (p.Pro1172Thr) c.3583C>A (p.Pro1195Thr) c.3568C>A (p.Pro1190Thr) c.3547C>A (p.Pro1183Thr) c.3541C>A (p.Pro1181Thr) c.3496C>A (p.Pro1166Thr) c.3487C>A (p.Pro1163Thr) c.3463C>A (p.Pro1155Thr) c.3457C>A (p.Pro1153Thr) c.3430C>A (p.Pro1144Thr) c.3424C>A (p.Pro1142Thr) c.3418C>A (p.Pro1140Thr) c.3379C>A (p.Pro1127Thr) c.3367C>A (p.Pro1123Thr) c.3310C>A (p.Pro1104Thr) c.3286C>A (p.Pro1096Thr) c.3280C>A (p.Pro1094Thr) c.3262C>A (p.Pro1088Thr) c.3208C>A (p.Pro1070Thr) c.2515C>A (p.Pro839Thr) c.2428C>A (p.Pro810Thr) n.3704C>A | dbSNP |
17 | g.39727742C>G | CA399312938 | ERBB2 | c.3466C>G (p.Pro1156Ala) c.3376C>G (p.Pro1126Ala) c.2638C>G (p.Pro880Ala) c.3421C>G (p.Pro1141Ala) c.*3256C>G (n.*3256C>G) c.*45C>G (n.*45C>G) n.3790C>G c.3604C>G (p.Pro1202Ala) c.3559C>G (p.Pro1187Ala) c.3514C>G (p.Pro1172Ala) c.3583C>G (p.Pro1195Ala) c.3568C>G (p.Pro1190Ala) c.3547C>G (p.Pro1183Ala) c.3541C>G (p.Pro1181Ala) c.3496C>G (p.Pro1166Ala) c.3487C>G (p.Pro1163Ala) c.3463C>G (p.Pro1155Ala) c.3457C>G (p.Pro1153Ala) c.3430C>G (p.Pro1144Ala) c.3424C>G (p.Pro1142Ala) c.3418C>G (p.Pro1140Ala) c.3379C>G (p.Pro1127Ala) c.3367C>G (p.Pro1123Ala) c.3310C>G (p.Pro1104Ala) c.3286C>G (p.Pro1096Ala) c.3280C>G (p.Pro1094Ala) c.3262C>G (p.Pro1088Ala) c.3208C>G (p.Pro1070Ala) c.2515C>G (p.Pro839Ala) c.2428C>G (p.Pro810Ala) n.3704C>G | dbSNP gnomAD v4 |
17 | g.39727742C>T | CA399312940 | ERBB2 | c.3466C>T (p.Pro1156Ser) c.3376C>T (p.Pro1126Ser) c.2638C>T (p.Pro880Ser) c.3421C>T (p.Pro1141Ser) c.*3256C>T (n.*3256C>T) c.*45C>T (n.*45C>T) n.3790C>T c.3604C>T (p.Pro1202Ser) c.3559C>T (p.Pro1187Ser) c.3514C>T (p.Pro1172Ser) c.3583C>T (p.Pro1195Ser) c.3568C>T (p.Pro1190Ser) c.3547C>T (p.Pro1183Ser) c.3541C>T (p.Pro1181Ser) c.3496C>T (p.Pro1166Ser) c.3487C>T (p.Pro1163Ser) c.3463C>T (p.Pro1155Ser) c.3457C>T (p.Pro1153Ser) c.3430C>T (p.Pro1144Ser) c.3424C>T (p.Pro1142Ser) c.3418C>T (p.Pro1140Ser) c.3379C>T (p.Pro1127Ser) c.3367C>T (p.Pro1123Ser) c.3310C>T (p.Pro1104Ser) c.3286C>T (p.Pro1096Ser) c.3280C>T (p.Pro1094Ser) c.3262C>T (p.Pro1088Ser) c.3208C>T (p.Pro1070Ser) c.2515C>T (p.Pro839Ser) c.2428C>T (p.Pro810Ser) n.3704C>T | dbSNP |
17 | g.39727743C>A | CA399312943 | ERBB2 | c.3467C>A (p.Pro1156His) c.3377C>A (p.Pro1126His) c.2639C>A (p.Pro880His) c.3422C>A (p.Pro1141His) c.*3257C>A (n.*3257C>A) c.*46C>A (n.*46C>A) n.3791C>A c.3605C>A (p.Pro1202His) c.3560C>A (p.Pro1187His) c.3515C>A (p.Pro1172His) c.3584C>A (p.Pro1195His) c.3569C>A (p.Pro1190His) c.3548C>A (p.Pro1183His) c.3542C>A (p.Pro1181His) c.3497C>A (p.Pro1166His) c.3488C>A (p.Pro1163His) c.3464C>A (p.Pro1155His) c.3458C>A (p.Pro1153His) c.3431C>A (p.Pro1144His) c.3425C>A (p.Pro1142His) c.3419C>A (p.Pro1140His) c.3380C>A (p.Pro1127His) c.3368C>A (p.Pro1123His) c.3311C>A (p.Pro1104His) c.3287C>A (p.Pro1096His) c.3281C>A (p.Pro1094His) c.3263C>A (p.Pro1088His) c.3209C>A (p.Pro1070His) c.2516C>A (p.Pro839His) c.2429C>A (p.Pro810His) n.3705C>A | dbSNP gnomAD v4 |
17 | g.39727743C>G | CA399312947 | ERBB2 | c.3467C>G (p.Pro1156Arg) c.3377C>G (p.Pro1126Arg) c.2639C>G (p.Pro880Arg) c.3422C>G (p.Pro1141Arg) c.*3257C>G (n.*3257C>G) c.*46C>G (n.*46C>G) n.3791C>G c.3605C>G (p.Pro1202Arg) c.3560C>G (p.Pro1187Arg) c.3515C>G (p.Pro1172Arg) c.3584C>G (p.Pro1195Arg) c.3569C>G (p.Pro1190Arg) c.3548C>G (p.Pro1183Arg) c.3542C>G (p.Pro1181Arg) c.3497C>G (p.Pro1166Arg) c.3488C>G (p.Pro1163Arg) c.3464C>G (p.Pro1155Arg) c.3458C>G (p.Pro1153Arg) c.3431C>G (p.Pro1144Arg) c.3425C>G (p.Pro1142Arg) c.3419C>G (p.Pro1140Arg) c.3380C>G (p.Pro1127Arg) c.3368C>G (p.Pro1123Arg) c.3311C>G (p.Pro1104Arg) c.3287C>G (p.Pro1096Arg) c.3281C>G (p.Pro1094Arg) c.3263C>G (p.Pro1088Arg) c.3209C>G (p.Pro1070Arg) c.2516C>G (p.Pro839Arg) c.2429C>G (p.Pro810Arg) n.3705C>G | |
17 | g.39727743C>T | CA399312949 | ERBB2 | c.3467C>T (p.Pro1156Leu) c.3377C>T (p.Pro1126Leu) c.2639C>T (p.Pro880Leu) c.3422C>T (p.Pro1141Leu) c.*3257C>T (n.*3257C>T) c.*46C>T (n.*46C>T) n.3791C>T c.3605C>T (p.Pro1202Leu) c.3560C>T (p.Pro1187Leu) c.3515C>T (p.Pro1172Leu) c.3584C>T (p.Pro1195Leu) c.3569C>T (p.Pro1190Leu) c.3548C>T (p.Pro1183Leu) c.3542C>T (p.Pro1181Leu) c.3497C>T (p.Pro1166Leu) c.3488C>T (p.Pro1163Leu) c.3464C>T (p.Pro1155Leu) c.3458C>T (p.Pro1153Leu) c.3431C>T (p.Pro1144Leu) c.3425C>T (p.Pro1142Leu) c.3419C>T (p.Pro1140Leu) c.3380C>T (p.Pro1127Leu) c.3368C>T (p.Pro1123Leu) c.3311C>T (p.Pro1104Leu) c.3287C>T (p.Pro1096Leu) c.3281C>T (p.Pro1094Leu) c.3263C>T (p.Pro1088Leu) c.3209C>T (p.Pro1070Leu) c.2516C>T (p.Pro839Leu) c.2429C>T (p.Pro810Leu) n.3705C>T | dbSNP |
17 | g.39727744T>A | CA499890571 | ERBB2 | c.3468T>A (p.Pro1156=) c.3378T>A (p.Pro1126=) c.2640T>A (p.Pro880=) c.3423T>A (p.Pro1141=) c.*3258T>A (n.*3258T>A) c.*47T>A (n.*47T>A) n.3792T>A c.3606T>A (p.Pro1202=) c.3561T>A (p.Pro1187=) c.3516T>A (p.Pro1172=) c.3585T>A (p.Pro1195=) c.3570T>A (p.Pro1190=) c.3549T>A (p.Pro1183=) c.3543T>A (p.Pro1181=) c.3498T>A (p.Pro1166=) c.3489T>A (p.Pro1163=) c.3465T>A (p.Pro1155=) c.3459T>A (p.Pro1153=) c.3432T>A (p.Pro1144=) c.3426T>A (p.Pro1142=) c.3420T>A (p.Pro1140=) c.3381T>A (p.Pro1127=) c.3369T>A (p.Pro1123=) c.3312T>A (p.Pro1104=) c.3288T>A (p.Pro1096=) c.3282T>A (p.Pro1094=) c.3264T>A (p.Pro1088=) c.3210T>A (p.Pro1070=) c.2517T>A (p.Pro839=) c.2430T>A (p.Pro810=) n.3706T>A | dbSNP |
17 | g.39727744T>C | CA499890572 | ERBB2 | c.3468T>C (p.Pro1156=) c.3378T>C (p.Pro1126=) c.2640T>C (p.Pro880=) c.3423T>C (p.Pro1141=) c.*3258T>C (n.*3258T>C) c.*47T>C (n.*47T>C) n.3792T>C c.3606T>C (p.Pro1202=) c.3561T>C (p.Pro1187=) c.3516T>C (p.Pro1172=) c.3585T>C (p.Pro1195=) c.3570T>C (p.Pro1190=) c.3549T>C (p.Pro1183=) c.3543T>C (p.Pro1181=) c.3498T>C (p.Pro1166=) c.3489T>C (p.Pro1163=) c.3465T>C (p.Pro1155=) c.3459T>C (p.Pro1153=) c.3432T>C (p.Pro1144=) c.3426T>C (p.Pro1142=) c.3420T>C (p.Pro1140=) c.3381T>C (p.Pro1127=) c.3369T>C (p.Pro1123=) c.3312T>C (p.Pro1104=) c.3288T>C (p.Pro1096=) c.3282T>C (p.Pro1094=) c.3264T>C (p.Pro1088=) c.3210T>C (p.Pro1070=) c.2517T>C (p.Pro839=) c.2430T>C (p.Pro810=) n.3706T>C | gnomAD v4 |
17 | g.39727744T>G | CA499890574 | ERBB2 | c.3468T>G (p.Pro1156=) c.3378T>G (p.Pro1126=) c.2640T>G (p.Pro880=) c.3423T>G (p.Pro1141=) c.*3258T>G (n.*3258T>G) c.*47T>G (n.*47T>G) n.3792T>G c.3606T>G (p.Pro1202=) c.3561T>G (p.Pro1187=) c.3516T>G (p.Pro1172=) c.3585T>G (p.Pro1195=) c.3570T>G (p.Pro1190=) c.3549T>G (p.Pro1183=) c.3543T>G (p.Pro1181=) c.3498T>G (p.Pro1166=) c.3489T>G (p.Pro1163=) c.3465T>G (p.Pro1155=) c.3459T>G (p.Pro1153=) c.3432T>G (p.Pro1144=) c.3426T>G (p.Pro1142=) c.3420T>G (p.Pro1140=) c.3381T>G (p.Pro1127=) c.3369T>G (p.Pro1123=) c.3312T>G (p.Pro1104=) c.3288T>G (p.Pro1096=) c.3282T>G (p.Pro1094=) c.3264T>G (p.Pro1088=) c.3210T>G (p.Pro1070=) c.2517T>G (p.Pro839=) c.2430T>G (p.Pro810=) n.3706T>G | |
17 | g.39727745C>A | CA399312953 | ERBB2 | c.3469C>A (p.Leu1157Met) c.3379C>A (p.Leu1127Met) c.2641C>A (p.Leu881Met) c.3424C>A (p.Leu1142Met) c.*3259C>A (n.*3259C>A) c.*48C>A (n.*48C>A) n.3793C>A c.3607C>A (p.Leu1203Met) c.3562C>A (p.Leu1188Met) c.3517C>A (p.Leu1173Met) c.3586C>A (p.Leu1196Met) c.3571C>A (p.Leu1191Met) c.3550C>A (p.Leu1184Met) c.3544C>A (p.Leu1182Met) c.3499C>A (p.Leu1167Met) c.3490C>A (p.Leu1164Met) c.3466C>A (p.Leu1156Met) c.3460C>A (p.Leu1154Met) c.3433C>A (p.Leu1145Met) c.3427C>A (p.Leu1143Met) c.3421C>A (p.Leu1141Met) c.3382C>A (p.Leu1128Met) c.3370C>A (p.Leu1124Met) c.3313C>A (p.Leu1105Met) c.3289C>A (p.Leu1097Met) c.3283C>A (p.Leu1095Met) c.3265C>A (p.Leu1089Met) c.3211C>A (p.Leu1071Met) c.2518C>A (p.Leu840Met) c.2431C>A (p.Leu811Met) n.3707C>A | dbSNP |
17 | g.39727745C>G | CA399312956 | ERBB2 | c.3469C>G (p.Leu1157Val) c.3379C>G (p.Leu1127Val) c.2641C>G (p.Leu881Val) c.3424C>G (p.Leu1142Val) c.*3259C>G (n.*3259C>G) c.*48C>G (n.*48C>G) n.3793C>G c.3607C>G (p.Leu1203Val) c.3562C>G (p.Leu1188Val) c.3517C>G (p.Leu1173Val) c.3586C>G (p.Leu1196Val) c.3571C>G (p.Leu1191Val) c.3550C>G (p.Leu1184Val) c.3544C>G (p.Leu1182Val) c.3499C>G (p.Leu1167Val) c.3490C>G (p.Leu1164Val) c.3466C>G (p.Leu1156Val) c.3460C>G (p.Leu1154Val) c.3433C>G (p.Leu1145Val) c.3427C>G (p.Leu1143Val) c.3421C>G (p.Leu1141Val) c.3382C>G (p.Leu1128Val) c.3370C>G (p.Leu1124Val) c.3313C>G (p.Leu1105Val) c.3289C>G (p.Leu1097Val) c.3283C>G (p.Leu1095Val) c.3265C>G (p.Leu1089Val) c.3211C>G (p.Leu1071Val) c.2518C>G (p.Leu840Val) c.2431C>G (p.Leu811Val) n.3707C>G | dbSNP |
17 | g.39727745C>T | CA499890576 | ERBB2 | c.3469C>T (p.Leu1157=) c.3379C>T (p.Leu1127=) c.2641C>T (p.Leu881=) c.3424C>T (p.Leu1142=) c.*3259C>T (n.*3259C>T) c.*48C>T (n.*48C>T) n.3793C>T c.3607C>T (p.Leu1203=) c.3562C>T (p.Leu1188=) c.3517C>T (p.Leu1173=) c.3586C>T (p.Leu1196=) c.3571C>T (p.Leu1191=) c.3550C>T (p.Leu1184=) c.3544C>T (p.Leu1182=) c.3499C>T (p.Leu1167=) c.3490C>T (p.Leu1164=) c.3466C>T (p.Leu1156=) c.3460C>T (p.Leu1154=) c.3433C>T (p.Leu1145=) c.3427C>T (p.Leu1143=) c.3421C>T (p.Leu1141=) c.3382C>T (p.Leu1128=) c.3370C>T (p.Leu1124=) c.3313C>T (p.Leu1105=) c.3289C>T (p.Leu1097=) c.3283C>T (p.Leu1095=) c.3265C>T (p.Leu1089=) c.3211C>T (p.Leu1071=) c.2518C>T (p.Leu840=) c.2431C>T (p.Leu811=) n.3707C>T | dbSNP gnomAD v4 |
17 | g.39727746T>A | CA399312962 | ERBB2 | c.3470T>A (p.Leu1157Gln) c.3380T>A (p.Leu1127Gln) c.2642T>A (p.Leu881Gln) c.3425T>A (p.Leu1142Gln) c.*3260T>A (n.*3260T>A) c.*49T>A (n.*49T>A) n.3794T>A c.3608T>A (p.Leu1203Gln) c.3563T>A (p.Leu1188Gln) c.3518T>A (p.Leu1173Gln) c.3587T>A (p.Leu1196Gln) c.3572T>A (p.Leu1191Gln) c.3551T>A (p.Leu1184Gln) c.3545T>A (p.Leu1182Gln) c.3500T>A (p.Leu1167Gln) c.3491T>A (p.Leu1164Gln) c.3467T>A (p.Leu1156Gln) c.3461T>A (p.Leu1154Gln) c.3434T>A (p.Leu1145Gln) c.3428T>A (p.Leu1143Gln) c.3422T>A (p.Leu1141Gln) c.3383T>A (p.Leu1128Gln) c.3371T>A (p.Leu1124Gln) c.3314T>A (p.Leu1105Gln) c.3290T>A (p.Leu1097Gln) c.3284T>A (p.Leu1095Gln) c.3266T>A (p.Leu1089Gln) c.3212T>A (p.Leu1071Gln) c.2519T>A (p.Leu840Gln) c.2432T>A (p.Leu811Gln) n.3708T>A | dbSNP |
17 | g.39727746T>C | CA399312967 | ERBB2 | c.3470T>C (p.Leu1157Pro) c.3380T>C (p.Leu1127Pro) c.2642T>C (p.Leu881Pro) c.3425T>C (p.Leu1142Pro) c.*3260T>C (n.*3260T>C) c.*49T>C (n.*49T>C) n.3794T>C c.3608T>C (p.Leu1203Pro) c.3563T>C (p.Leu1188Pro) c.3518T>C (p.Leu1173Pro) c.3587T>C (p.Leu1196Pro) c.3572T>C (p.Leu1191Pro) c.3551T>C (p.Leu1184Pro) c.3545T>C (p.Leu1182Pro) c.3500T>C (p.Leu1167Pro) c.3491T>C (p.Leu1164Pro) c.3467T>C (p.Leu1156Pro) c.3461T>C (p.Leu1154Pro) c.3434T>C (p.Leu1145Pro) c.3428T>C (p.Leu1143Pro) c.3422T>C (p.Leu1141Pro) c.3383T>C (p.Leu1128Pro) c.3371T>C (p.Leu1124Pro) c.3314T>C (p.Leu1105Pro) c.3290T>C (p.Leu1097Pro) c.3284T>C (p.Leu1095Pro) c.3266T>C (p.Leu1089Pro) c.3212T>C (p.Leu1071Pro) c.2519T>C (p.Leu840Pro) c.2432T>C (p.Leu811Pro) n.3708T>C | dbSNP |
17 | g.39727746T>G | CA8534569 | ERBB2 | c.3470T>G (p.Leu1157Arg) c.3380T>G (p.Leu1127Arg) c.2642T>G (p.Leu881Arg) c.3425T>G (p.Leu1142Arg) c.*3260T>G (n.*3260T>G) c.*49T>G (n.*49T>G) n.3794T>G c.3608T>G (p.Leu1203Arg) c.3563T>G (p.Leu1188Arg) c.3518T>G (p.Leu1173Arg) c.3587T>G (p.Leu1196Arg) c.3572T>G (p.Leu1191Arg) c.3551T>G (p.Leu1184Arg) c.3545T>G (p.Leu1182Arg) c.3500T>G (p.Leu1167Arg) c.3491T>G (p.Leu1164Arg) c.3467T>G (p.Leu1156Arg) c.3461T>G (p.Leu1154Arg) c.3434T>G (p.Leu1145Arg) c.3428T>G (p.Leu1143Arg) c.3422T>G (p.Leu1141Arg) c.3383T>G (p.Leu1128Arg) c.3371T>G (p.Leu1124Arg) c.3314T>G (p.Leu1105Arg) c.3290T>G (p.Leu1097Arg) c.3284T>G (p.Leu1095Arg) c.3266T>G (p.Leu1089Arg) c.3212T>G (p.Leu1071Arg) c.2519T>G (p.Leu840Arg) c.2432T>G (p.Leu811Arg) n.3708T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727746T= | CA2259229242 | ERBB2 | c.3470T= (p.Leu1157=) c.3380T= (p.Leu1127=) c.2642T= (p.Leu881=) c.3425T= (p.Leu1142=) c.*3260T= (n.*3260T=) c.*49T= (n.*49T=) n.3794T= c.3608T= (p.Leu1203=) c.3563T= (p.Leu1188=) c.3518T= (p.Leu1173=) c.3587T= (p.Leu1196=) c.3572T= (p.Leu1191=) c.3551T= (p.Leu1184=) c.3545T= (p.Leu1182=) c.3500T= (p.Leu1167=) c.3491T= (p.Leu1164=) c.3467T= (p.Leu1156=) c.3461T= (p.Leu1154=) c.3434T= (p.Leu1145=) c.3428T= (p.Leu1143=) c.3422T= (p.Leu1141=) c.3383T= (p.Leu1128=) c.3371T= (p.Leu1124=) c.3314T= (p.Leu1105=) c.3290T= (p.Leu1097=) c.3284T= (p.Leu1095=) c.3266T= (p.Leu1089=) c.3212T= (p.Leu1071=) c.2519T= (p.Leu840=) c.2432T= (p.Leu811=) n.3708T= | |
17 | g.39727747G>A | CA499890580 | ERBB2 | c.3471G>A (p.Leu1157=) c.3381G>A (p.Leu1127=) c.2643G>A (p.Leu881=) c.3426G>A (p.Leu1142=) c.*3261G>A (n.*3261G>A) c.*50G>A (n.*50G>A) n.3795G>A c.3609G>A (p.Leu1203=) c.3564G>A (p.Leu1188=) c.3519G>A (p.Leu1173=) c.3588G>A (p.Leu1196=) c.3573G>A (p.Leu1191=) c.3552G>A (p.Leu1184=) c.3546G>A (p.Leu1182=) c.3501G>A (p.Leu1167=) c.3492G>A (p.Leu1164=) c.3468G>A (p.Leu1156=) c.3462G>A (p.Leu1154=) c.3435G>A (p.Leu1145=) c.3429G>A (p.Leu1143=) c.3423G>A (p.Leu1141=) c.3384G>A (p.Leu1128=) c.3372G>A (p.Leu1124=) c.3315G>A (p.Leu1105=) c.3291G>A (p.Leu1097=) c.3285G>A (p.Leu1095=) c.3267G>A (p.Leu1089=) c.3213G>A (p.Leu1071=) c.2520G>A (p.Leu840=) c.2433G>A (p.Leu811=) n.3709G>A | dbSNP |
17 | g.39727747G>C | CA499890581 | ERBB2 | c.3471G>C (p.Leu1157=) c.3381G>C (p.Leu1127=) c.2643G>C (p.Leu881=) c.3426G>C (p.Leu1142=) c.*3261G>C (n.*3261G>C) c.*50G>C (n.*50G>C) n.3795G>C c.3609G>C (p.Leu1203=) c.3564G>C (p.Leu1188=) c.3519G>C (p.Leu1173=) c.3588G>C (p.Leu1196=) c.3573G>C (p.Leu1191=) c.3552G>C (p.Leu1184=) c.3546G>C (p.Leu1182=) c.3501G>C (p.Leu1167=) c.3492G>C (p.Leu1164=) c.3468G>C (p.Leu1156=) c.3462G>C (p.Leu1154=) c.3435G>C (p.Leu1145=) c.3429G>C (p.Leu1143=) c.3423G>C (p.Leu1141=) c.3384G>C (p.Leu1128=) c.3372G>C (p.Leu1124=) c.3315G>C (p.Leu1105=) c.3291G>C (p.Leu1097=) c.3285G>C (p.Leu1095=) c.3267G>C (p.Leu1089=) c.3213G>C (p.Leu1071=) c.2520G>C (p.Leu840=) c.2433G>C (p.Leu811=) n.3709G>C | dbSNP |
17 | g.39727747G= | CA2259229243 | ERBB2 | c.3471G= (p.Leu1157=) c.3381G= (p.Leu1127=) c.2643G= (p.Leu881=) c.3426G= (p.Leu1142=) c.*3261G= (n.*3261G=) c.*50G= (n.*50G=) n.3795G= c.3609G= (p.Leu1203=) c.3564G= (p.Leu1188=) c.3519G= (p.Leu1173=) c.3588G= (p.Leu1196=) c.3573G= (p.Leu1191=) c.3552G= (p.Leu1184=) c.3546G= (p.Leu1182=) c.3501G= (p.Leu1167=) c.3492G= (p.Leu1164=) c.3468G= (p.Leu1156=) c.3462G= (p.Leu1154=) c.3435G= (p.Leu1145=) c.3429G= (p.Leu1143=) c.3423G= (p.Leu1141=) c.3384G= (p.Leu1128=) c.3372G= (p.Leu1124=) c.3315G= (p.Leu1105=) c.3291G= (p.Leu1097=) c.3285G= (p.Leu1095=) c.3267G= (p.Leu1089=) c.3213G= (p.Leu1071=) c.2520G= (p.Leu840=) c.2433G= (p.Leu811=) n.3709G= | |
17 | g.39727747G>T | CA499890583 | ERBB2 | c.3471G>T (p.Leu1157=) c.3381G>T (p.Leu1127=) c.2643G>T (p.Leu881=) c.3426G>T (p.Leu1142=) c.*3261G>T (n.*3261G>T) c.*50G>T (n.*50G>T) n.3795G>T c.3609G>T (p.Leu1203=) c.3564G>T (p.Leu1188=) c.3519G>T (p.Leu1173=) c.3588G>T (p.Leu1196=) c.3573G>T (p.Leu1191=) c.3552G>T (p.Leu1184=) c.3546G>T (p.Leu1182=) c.3501G>T (p.Leu1167=) c.3492G>T (p.Leu1164=) c.3468G>T (p.Leu1156=) c.3462G>T (p.Leu1154=) c.3435G>T (p.Leu1145=) c.3429G>T (p.Leu1143=) c.3423G>T (p.Leu1141=) c.3384G>T (p.Leu1128=) c.3372G>T (p.Leu1124=) c.3315G>T (p.Leu1105=) c.3291G>T (p.Leu1097=) c.3285G>T (p.Leu1095=) c.3267G>T (p.Leu1089=) c.3213G>T (p.Leu1071=) c.2520G>T (p.Leu840=) c.2433G>T (p.Leu811=) n.3709G>T | dbSNP gnomAD v4 |
17 | g.39727748C>A | CA399312970 | ERBB2 | c.3472C>A (p.Pro1158Thr) c.3382C>A (p.Pro1128Thr) c.2644C>A (p.Pro882Thr) c.3427C>A (p.Pro1143Thr) c.*3262C>A (n.*3262C>A) c.*51C>A (n.*51C>A) n.3796C>A c.3610C>A (p.Pro1204Thr) c.3565C>A (p.Pro1189Thr) c.3520C>A (p.Pro1174Thr) c.3589C>A (p.Pro1197Thr) c.3574C>A (p.Pro1192Thr) c.3553C>A (p.Pro1185Thr) c.3547C>A (p.Pro1183Thr) c.3502C>A (p.Pro1168Thr) c.3493C>A (p.Pro1165Thr) c.3469C>A (p.Pro1157Thr) c.3463C>A (p.Pro1155Thr) c.3436C>A (p.Pro1146Thr) c.3430C>A (p.Pro1144Thr) c.3424C>A (p.Pro1142Thr) c.3385C>A (p.Pro1129Thr) c.3373C>A (p.Pro1125Thr) c.3316C>A (p.Pro1106Thr) c.3292C>A (p.Pro1098Thr) c.3286C>A (p.Pro1096Thr) c.3268C>A (p.Pro1090Thr) c.3214C>A (p.Pro1072Thr) c.2521C>A (p.Pro841Thr) c.2434C>A (p.Pro812Thr) n.3710C>A | dbSNP gnomAD v4 |
17 | g.39727748C>G | CA399312972 | ERBB2 | c.3472C>G (p.Pro1158Ala) c.3382C>G (p.Pro1128Ala) c.2644C>G (p.Pro882Ala) c.3427C>G (p.Pro1143Ala) c.*3262C>G (n.*3262C>G) c.*51C>G (n.*51C>G) n.3796C>G c.3610C>G (p.Pro1204Ala) c.3565C>G (p.Pro1189Ala) c.3520C>G (p.Pro1174Ala) c.3589C>G (p.Pro1197Ala) c.3574C>G (p.Pro1192Ala) c.3553C>G (p.Pro1185Ala) c.3547C>G (p.Pro1183Ala) c.3502C>G (p.Pro1168Ala) c.3493C>G (p.Pro1165Ala) c.3469C>G (p.Pro1157Ala) c.3463C>G (p.Pro1155Ala) c.3436C>G (p.Pro1146Ala) c.3430C>G (p.Pro1144Ala) c.3424C>G (p.Pro1142Ala) c.3385C>G (p.Pro1129Ala) c.3373C>G (p.Pro1125Ala) c.3316C>G (p.Pro1106Ala) c.3292C>G (p.Pro1098Ala) c.3286C>G (p.Pro1096Ala) c.3268C>G (p.Pro1090Ala) c.3214C>G (p.Pro1072Ala) c.2521C>G (p.Pro841Ala) c.2434C>G (p.Pro812Ala) n.3710C>G | dbSNP |
17 | g.39727748C>T | CA399312975 | ERBB2 | c.3472C>T (p.Pro1158Ser) c.3382C>T (p.Pro1128Ser) c.2644C>T (p.Pro882Ser) c.3427C>T (p.Pro1143Ser) c.*3262C>T (n.*3262C>T) c.*51C>T (n.*51C>T) n.3796C>T c.3610C>T (p.Pro1204Ser) c.3565C>T (p.Pro1189Ser) c.3520C>T (p.Pro1174Ser) c.3589C>T (p.Pro1197Ser) c.3574C>T (p.Pro1192Ser) c.3553C>T (p.Pro1185Ser) c.3547C>T (p.Pro1183Ser) c.3502C>T (p.Pro1168Ser) c.3493C>T (p.Pro1165Ser) c.3469C>T (p.Pro1157Ser) c.3463C>T (p.Pro1155Ser) c.3436C>T (p.Pro1146Ser) c.3430C>T (p.Pro1144Ser) c.3424C>T (p.Pro1142Ser) c.3385C>T (p.Pro1129Ser) c.3373C>T (p.Pro1125Ser) c.3316C>T (p.Pro1106Ser) c.3292C>T (p.Pro1098Ser) c.3286C>T (p.Pro1096Ser) c.3268C>T (p.Pro1090Ser) c.3214C>T (p.Pro1072Ser) c.2521C>T (p.Pro841Ser) c.2434C>T (p.Pro812Ser) n.3710C>T | dbSNP gnomAD v4 |
17 | g.39727749C>A | CA399312978 | ERBB2 | c.3473C>A (p.Pro1158His) c.3383C>A (p.Pro1128His) c.2645C>A (p.Pro882His) c.3428C>A (p.Pro1143His) c.*3263C>A (n.*3263C>A) c.*52C>A (n.*52C>A) n.3797C>A c.3611C>A (p.Pro1204His) c.3566C>A (p.Pro1189His) c.3521C>A (p.Pro1174His) c.3590C>A (p.Pro1197His) c.3575C>A (p.Pro1192His) c.3554C>A (p.Pro1185His) c.3548C>A (p.Pro1183His) c.3503C>A (p.Pro1168His) c.3494C>A (p.Pro1165His) c.3470C>A (p.Pro1157His) c.3464C>A (p.Pro1155His) c.3437C>A (p.Pro1146His) c.3431C>A (p.Pro1144His) c.3425C>A (p.Pro1142His) c.3386C>A (p.Pro1129His) c.3374C>A (p.Pro1125His) c.3317C>A (p.Pro1106His) c.3293C>A (p.Pro1098His) c.3287C>A (p.Pro1096His) c.3269C>A (p.Pro1090His) c.3215C>A (p.Pro1072His) c.2522C>A (p.Pro841His) c.2435C>A (p.Pro812His) n.3711C>A | |
17 | g.39727749C= | CA2259229244 | ERBB2 | c.3473C= (p.Pro1158=) c.3383C= (p.Pro1128=) c.2645C= (p.Pro882=) c.3428C= (p.Pro1143=) c.*3263C= (n.*3263C=) c.*52C= (n.*52C=) n.3797C= c.3611C= (p.Pro1204=) c.3566C= (p.Pro1189=) c.3521C= (p.Pro1174=) c.3590C= (p.Pro1197=) c.3575C= (p.Pro1192=) c.3554C= (p.Pro1185=) c.3548C= (p.Pro1183=) c.3503C= (p.Pro1168=) c.3494C= (p.Pro1165=) c.3470C= (p.Pro1157=) c.3464C= (p.Pro1155=) c.3437C= (p.Pro1146=) c.3431C= (p.Pro1144=) c.3425C= (p.Pro1142=) c.3386C= (p.Pro1129=) c.3374C= (p.Pro1125=) c.3317C= (p.Pro1106=) c.3293C= (p.Pro1098=) c.3287C= (p.Pro1096=) c.3269C= (p.Pro1090=) c.3215C= (p.Pro1072=) c.2522C= (p.Pro841=) c.2435C= (p.Pro812=) n.3711C= | |
17 | g.39727749C>G | CA399312981 | ERBB2 | c.3473C>G (p.Pro1158Arg) c.3383C>G (p.Pro1128Arg) c.2645C>G (p.Pro882Arg) c.3428C>G (p.Pro1143Arg) c.*3263C>G (n.*3263C>G) c.*52C>G (n.*52C>G) n.3797C>G c.3611C>G (p.Pro1204Arg) c.3566C>G (p.Pro1189Arg) c.3521C>G (p.Pro1174Arg) c.3590C>G (p.Pro1197Arg) c.3575C>G (p.Pro1192Arg) c.3554C>G (p.Pro1185Arg) c.3548C>G (p.Pro1183Arg) c.3503C>G (p.Pro1168Arg) c.3494C>G (p.Pro1165Arg) c.3470C>G (p.Pro1157Arg) c.3464C>G (p.Pro1155Arg) c.3437C>G (p.Pro1146Arg) c.3431C>G (p.Pro1144Arg) c.3425C>G (p.Pro1142Arg) c.3386C>G (p.Pro1129Arg) c.3374C>G (p.Pro1125Arg) c.3317C>G (p.Pro1106Arg) c.3293C>G (p.Pro1098Arg) c.3287C>G (p.Pro1096Arg) c.3269C>G (p.Pro1090Arg) c.3215C>G (p.Pro1072Arg) c.2522C>G (p.Pro841Arg) c.2435C>G (p.Pro812Arg) n.3711C>G | |
17 | g.39727749C>T | CA399312985 | ERBB2 | c.3473C>T (p.Pro1158Leu) c.3383C>T (p.Pro1128Leu) c.2645C>T (p.Pro882Leu) c.3428C>T (p.Pro1143Leu) c.*3263C>T (n.*3263C>T) c.*52C>T (n.*52C>T) n.3797C>T c.3611C>T (p.Pro1204Leu) c.3566C>T (p.Pro1189Leu) c.3521C>T (p.Pro1174Leu) c.3590C>T (p.Pro1197Leu) c.3575C>T (p.Pro1192Leu) c.3554C>T (p.Pro1185Leu) c.3548C>T (p.Pro1183Leu) c.3503C>T (p.Pro1168Leu) c.3494C>T (p.Pro1165Leu) c.3470C>T (p.Pro1157Leu) c.3464C>T (p.Pro1155Leu) c.3437C>T (p.Pro1146Leu) c.3431C>T (p.Pro1144Leu) c.3425C>T (p.Pro1142Leu) c.3386C>T (p.Pro1129Leu) c.3374C>T (p.Pro1125Leu) c.3317C>T (p.Pro1106Leu) c.3293C>T (p.Pro1098Leu) c.3287C>T (p.Pro1096Leu) c.3269C>T (p.Pro1090Leu) c.3215C>T (p.Pro1072Leu) c.2522C>T (p.Pro841Leu) c.2435C>T (p.Pro812Leu) n.3711C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727750T>A | CA499890589 | ERBB2 | c.3474T>A (p.Pro1158=) c.3384T>A (p.Pro1128=) c.2646T>A (p.Pro882=) c.3429T>A (p.Pro1143=) c.*3264T>A (n.*3264T>A) c.*53T>A (n.*53T>A) n.3798T>A c.3612T>A (p.Pro1204=) c.3567T>A (p.Pro1189=) c.3522T>A (p.Pro1174=) c.3591T>A (p.Pro1197=) c.3576T>A (p.Pro1192=) c.3555T>A (p.Pro1185=) c.3549T>A (p.Pro1183=) c.3504T>A (p.Pro1168=) c.3495T>A (p.Pro1165=) c.3471T>A (p.Pro1157=) c.3465T>A (p.Pro1155=) c.3438T>A (p.Pro1146=) c.3432T>A (p.Pro1144=) c.3426T>A (p.Pro1142=) c.3387T>A (p.Pro1129=) c.3375T>A (p.Pro1125=) c.3318T>A (p.Pro1106=) c.3294T>A (p.Pro1098=) c.3288T>A (p.Pro1096=) c.3270T>A (p.Pro1090=) c.3216T>A (p.Pro1072=) c.2523T>A (p.Pro841=) c.2436T>A (p.Pro812=) n.3712T>A | |
17 | g.39727750T>C | CA499890590 | ERBB2 | c.3474T>C (p.Pro1158=) c.3384T>C (p.Pro1128=) c.2646T>C (p.Pro882=) c.3429T>C (p.Pro1143=) c.*3264T>C (n.*3264T>C) c.*53T>C (n.*53T>C) n.3798T>C c.3612T>C (p.Pro1204=) c.3567T>C (p.Pro1189=) c.3522T>C (p.Pro1174=) c.3591T>C (p.Pro1197=) c.3576T>C (p.Pro1192=) c.3555T>C (p.Pro1185=) c.3549T>C (p.Pro1183=) c.3504T>C (p.Pro1168=) c.3495T>C (p.Pro1165=) c.3471T>C (p.Pro1157=) c.3465T>C (p.Pro1155=) c.3438T>C (p.Pro1146=) c.3432T>C (p.Pro1144=) c.3426T>C (p.Pro1142=) c.3387T>C (p.Pro1129=) c.3375T>C (p.Pro1125=) c.3318T>C (p.Pro1106=) c.3294T>C (p.Pro1098=) c.3288T>C (p.Pro1096=) c.3270T>C (p.Pro1090=) c.3216T>C (p.Pro1072=) c.2523T>C (p.Pro841=) c.2436T>C (p.Pro812=) n.3712T>C | dbSNP |
17 | g.39727750T>G | CA8534570 | ERBB2 | c.3474T>G (p.Pro1158=) c.3384T>G (p.Pro1128=) c.2646T>G (p.Pro882=) c.3429T>G (p.Pro1143=) c.*3264T>G (n.*3264T>G) c.*53T>G (n.*53T>G) n.3798T>G c.3612T>G (p.Pro1204=) c.3567T>G (p.Pro1189=) c.3522T>G (p.Pro1174=) c.3591T>G (p.Pro1197=) c.3576T>G (p.Pro1192=) c.3555T>G (p.Pro1185=) c.3549T>G (p.Pro1183=) c.3504T>G (p.Pro1168=) c.3495T>G (p.Pro1165=) c.3471T>G (p.Pro1157=) c.3465T>G (p.Pro1155=) c.3438T>G (p.Pro1146=) c.3432T>G (p.Pro1144=) c.3426T>G (p.Pro1142=) c.3387T>G (p.Pro1129=) c.3375T>G (p.Pro1125=) c.3318T>G (p.Pro1106=) c.3294T>G (p.Pro1098=) c.3288T>G (p.Pro1096=) c.3270T>G (p.Pro1090=) c.3216T>G (p.Pro1072=) c.2523T>G (p.Pro841=) c.2436T>G (p.Pro812=) n.3712T>G | dbSNP ExAC gnomAD v2 |
17 | g.39727750T= | CA2259229245 | ERBB2 | c.3474T= (p.Pro1158=) c.3384T= (p.Pro1128=) c.2646T= (p.Pro882=) c.3429T= (p.Pro1143=) c.*3264T= (n.*3264T=) c.*53T= (n.*53T=) n.3798T= c.3612T= (p.Pro1204=) c.3567T= (p.Pro1189=) c.3522T= (p.Pro1174=) c.3591T= (p.Pro1197=) c.3576T= (p.Pro1192=) c.3555T= (p.Pro1185=) c.3549T= (p.Pro1183=) c.3504T= (p.Pro1168=) c.3495T= (p.Pro1165=) c.3471T= (p.Pro1157=) c.3465T= (p.Pro1155=) c.3438T= (p.Pro1146=) c.3432T= (p.Pro1144=) c.3426T= (p.Pro1142=) c.3387T= (p.Pro1129=) c.3375T= (p.Pro1125=) c.3318T= (p.Pro1106=) c.3294T= (p.Pro1098=) c.3288T= (p.Pro1096=) c.3270T= (p.Pro1090=) c.3216T= (p.Pro1072=) c.2523T= (p.Pro841=) c.2436T= (p.Pro812=) n.3712T= | |
17 | g.39727751G>A | CA399312991 | ERBB2 | c.3475G>A (p.Ala1159Thr) c.3385G>A (p.Ala1129Thr) c.2647G>A (p.Ala883Thr) c.3430G>A (p.Ala1144Thr) c.*3265G>A (n.*3265G>A) c.*54G>A (n.*54G>A) n.3799G>A c.3613G>A (p.Ala1205Thr) c.3568G>A (p.Ala1190Thr) c.3523G>A (p.Ala1175Thr) c.3592G>A (p.Ala1198Thr) c.3577G>A (p.Ala1193Thr) c.3556G>A (p.Ala1186Thr) c.3550G>A (p.Ala1184Thr) c.3505G>A (p.Ala1169Thr) c.3496G>A (p.Ala1166Thr) c.3472G>A (p.Ala1158Thr) c.3466G>A (p.Ala1156Thr) c.3439G>A (p.Ala1147Thr) c.3433G>A (p.Ala1145Thr) c.3427G>A (p.Ala1143Thr) c.3388G>A (p.Ala1130Thr) c.3376G>A (p.Ala1126Thr) c.3319G>A (p.Ala1107Thr) c.3295G>A (p.Ala1099Thr) c.3289G>A (p.Ala1097Thr) c.3271G>A (p.Ala1091Thr) c.3217G>A (p.Ala1073Thr) c.2524G>A (p.Ala842Thr) c.2437G>A (p.Ala813Thr) n.3713G>A | dbSNP |
17 | g.39727751G>C | CA399312994 | ERBB2 | c.3475G>C (p.Ala1159Pro) c.3385G>C (p.Ala1129Pro) c.2647G>C (p.Ala883Pro) c.3430G>C (p.Ala1144Pro) c.*3265G>C (n.*3265G>C) c.*54G>C (n.*54G>C) n.3799G>C c.3613G>C (p.Ala1205Pro) c.3568G>C (p.Ala1190Pro) c.3523G>C (p.Ala1175Pro) c.3592G>C (p.Ala1198Pro) c.3577G>C (p.Ala1193Pro) c.3556G>C (p.Ala1186Pro) c.3550G>C (p.Ala1184Pro) c.3505G>C (p.Ala1169Pro) c.3496G>C (p.Ala1166Pro) c.3472G>C (p.Ala1158Pro) c.3466G>C (p.Ala1156Pro) c.3439G>C (p.Ala1147Pro) c.3433G>C (p.Ala1145Pro) c.3427G>C (p.Ala1143Pro) c.3388G>C (p.Ala1130Pro) c.3376G>C (p.Ala1126Pro) c.3319G>C (p.Ala1107Pro) c.3295G>C (p.Ala1099Pro) c.3289G>C (p.Ala1097Pro) c.3271G>C (p.Ala1091Pro) c.3217G>C (p.Ala1073Pro) c.2524G>C (p.Ala842Pro) c.2437G>C (p.Ala813Pro) n.3713G>C | dbSNP |
17 | g.39727751G>T | CA399312997 | ERBB2 | c.3475G>T (p.Ala1159Ser) c.3385G>T (p.Ala1129Ser) c.2647G>T (p.Ala883Ser) c.3430G>T (p.Ala1144Ser) c.*3265G>T (n.*3265G>T) c.*54G>T (n.*54G>T) n.3799G>T c.3613G>T (p.Ala1205Ser) c.3568G>T (p.Ala1190Ser) c.3523G>T (p.Ala1175Ser) c.3592G>T (p.Ala1198Ser) c.3577G>T (p.Ala1193Ser) c.3556G>T (p.Ala1186Ser) c.3550G>T (p.Ala1184Ser) c.3505G>T (p.Ala1169Ser) c.3496G>T (p.Ala1166Ser) c.3472G>T (p.Ala1158Ser) c.3466G>T (p.Ala1156Ser) c.3439G>T (p.Ala1147Ser) c.3433G>T (p.Ala1145Ser) c.3427G>T (p.Ala1143Ser) c.3388G>T (p.Ala1130Ser) c.3376G>T (p.Ala1126Ser) c.3319G>T (p.Ala1107Ser) c.3295G>T (p.Ala1099Ser) c.3289G>T (p.Ala1097Ser) c.3271G>T (p.Ala1091Ser) c.3217G>T (p.Ala1073Ser) c.2524G>T (p.Ala842Ser) c.2437G>T (p.Ala813Ser) n.3713G>T | dbSNP gnomAD v4 |
17 | g.39727752C>A | CA399313008 | ERBB2 | c.3476C>A (p.Ala1159Asp) c.3386C>A (p.Ala1129Asp) c.2648C>A (p.Ala883Asp) c.3431C>A (p.Ala1144Asp) c.*3266C>A (n.*3266C>A) c.*55C>A (n.*55C>A) n.3800C>A c.3614C>A (p.Ala1205Asp) c.3569C>A (p.Ala1190Asp) c.3524C>A (p.Ala1175Asp) c.3593C>A (p.Ala1198Asp) c.3578C>A (p.Ala1193Asp) c.3557C>A (p.Ala1186Asp) c.3551C>A (p.Ala1184Asp) c.3506C>A (p.Ala1169Asp) c.3497C>A (p.Ala1166Asp) c.3473C>A (p.Ala1158Asp) c.3467C>A (p.Ala1156Asp) c.3440C>A (p.Ala1147Asp) c.3434C>A (p.Ala1145Asp) c.3428C>A (p.Ala1143Asp) c.3389C>A (p.Ala1130Asp) c.3377C>A (p.Ala1126Asp) c.3320C>A (p.Ala1107Asp) c.3296C>A (p.Ala1099Asp) c.3290C>A (p.Ala1097Asp) c.3272C>A (p.Ala1091Asp) c.3218C>A (p.Ala1073Asp) c.2525C>A (p.Ala842Asp) c.2438C>A (p.Ala813Asp) n.3714C>A | dbSNP gnomAD v4 |
17 | g.39727752C>G | CA399313005 | ERBB2 | c.3476C>G (p.Ala1159Gly) c.3386C>G (p.Ala1129Gly) c.2648C>G (p.Ala883Gly) c.3431C>G (p.Ala1144Gly) c.*3266C>G (n.*3266C>G) c.*55C>G (n.*55C>G) n.3800C>G c.3614C>G (p.Ala1205Gly) c.3569C>G (p.Ala1190Gly) c.3524C>G (p.Ala1175Gly) c.3593C>G (p.Ala1198Gly) c.3578C>G (p.Ala1193Gly) c.3557C>G (p.Ala1186Gly) c.3551C>G (p.Ala1184Gly) c.3506C>G (p.Ala1169Gly) c.3497C>G (p.Ala1166Gly) c.3473C>G (p.Ala1158Gly) c.3467C>G (p.Ala1156Gly) c.3440C>G (p.Ala1147Gly) c.3434C>G (p.Ala1145Gly) c.3428C>G (p.Ala1143Gly) c.3389C>G (p.Ala1130Gly) c.3377C>G (p.Ala1126Gly) c.3320C>G (p.Ala1107Gly) c.3296C>G (p.Ala1099Gly) c.3290C>G (p.Ala1097Gly) c.3272C>G (p.Ala1091Gly) c.3218C>G (p.Ala1073Gly) c.2525C>G (p.Ala842Gly) c.2438C>G (p.Ala813Gly) n.3714C>G | dbSNP |
17 | g.39727752C>T | CA399313002 | ERBB2 | c.3476C>T (p.Ala1159Val) c.3386C>T (p.Ala1129Val) c.2648C>T (p.Ala883Val) c.3431C>T (p.Ala1144Val) c.*3266C>T (n.*3266C>T) c.*55C>T (n.*55C>T) n.3800C>T c.3614C>T (p.Ala1205Val) c.3569C>T (p.Ala1190Val) c.3524C>T (p.Ala1175Val) c.3593C>T (p.Ala1198Val) c.3578C>T (p.Ala1193Val) c.3557C>T (p.Ala1186Val) c.3551C>T (p.Ala1184Val) c.3506C>T (p.Ala1169Val) c.3497C>T (p.Ala1166Val) c.3473C>T (p.Ala1158Val) c.3467C>T (p.Ala1156Val) c.3440C>T (p.Ala1147Val) c.3434C>T (p.Ala1145Val) c.3428C>T (p.Ala1143Val) c.3389C>T (p.Ala1130Val) c.3377C>T (p.Ala1126Val) c.3320C>T (p.Ala1107Val) c.3296C>T (p.Ala1099Val) c.3290C>T (p.Ala1097Val) c.3272C>T (p.Ala1091Val) c.3218C>T (p.Ala1073Val) c.2525C>T (p.Ala842Val) c.2438C>T (p.Ala813Val) n.3714C>T | dbSNP |
17 | g.39727753T>A | CA499890595 | ERBB2 | c.3477T>A (p.Ala1159=) c.3387T>A (p.Ala1129=) c.2649T>A (p.Ala883=) c.3432T>A (p.Ala1144=) c.*3267T>A (n.*3267T>A) c.*56T>A (n.*56T>A) n.3801T>A c.3615T>A (p.Ala1205=) c.3570T>A (p.Ala1190=) c.3525T>A (p.Ala1175=) c.3594T>A (p.Ala1198=) c.3579T>A (p.Ala1193=) c.3558T>A (p.Ala1186=) c.3552T>A (p.Ala1184=) c.3507T>A (p.Ala1169=) c.3498T>A (p.Ala1166=) c.3474T>A (p.Ala1158=) c.3468T>A (p.Ala1156=) c.3441T>A (p.Ala1147=) c.3435T>A (p.Ala1145=) c.3429T>A (p.Ala1143=) c.3390T>A (p.Ala1130=) c.3378T>A (p.Ala1126=) c.3321T>A (p.Ala1107=) c.3297T>A (p.Ala1099=) c.3291T>A (p.Ala1097=) c.3273T>A (p.Ala1091=) c.3219T>A (p.Ala1073=) c.2526T>A (p.Ala842=) c.2439T>A (p.Ala813=) n.3715T>A | dbSNP |
17 | g.39727753T>C | CA499890596 | ERBB2 | c.3477T>C (p.Ala1159=) c.3387T>C (p.Ala1129=) c.2649T>C (p.Ala883=) c.3432T>C (p.Ala1144=) c.*3267T>C (n.*3267T>C) c.*56T>C (n.*56T>C) n.3801T>C c.3615T>C (p.Ala1205=) c.3570T>C (p.Ala1190=) c.3525T>C (p.Ala1175=) c.3594T>C (p.Ala1198=) c.3579T>C (p.Ala1193=) c.3558T>C (p.Ala1186=) c.3552T>C (p.Ala1184=) c.3507T>C (p.Ala1169=) c.3498T>C (p.Ala1166=) c.3474T>C (p.Ala1158=) c.3468T>C (p.Ala1156=) c.3441T>C (p.Ala1147=) c.3435T>C (p.Ala1145=) c.3429T>C (p.Ala1143=) c.3390T>C (p.Ala1130=) c.3378T>C (p.Ala1126=) c.3321T>C (p.Ala1107=) c.3297T>C (p.Ala1099=) c.3291T>C (p.Ala1097=) c.3273T>C (p.Ala1091=) c.3219T>C (p.Ala1073=) c.2526T>C (p.Ala842=) c.2439T>C (p.Ala813=) n.3715T>C | dbSNP |
17 | g.39727753T>G | CA499890597 | ERBB2 | c.3477T>G (p.Ala1159=) c.3387T>G (p.Ala1129=) c.2649T>G (p.Ala883=) c.3432T>G (p.Ala1144=) c.*3267T>G (n.*3267T>G) c.*56T>G (n.*56T>G) n.3801T>G c.3615T>G (p.Ala1205=) c.3570T>G (p.Ala1190=) c.3525T>G (p.Ala1175=) c.3594T>G (p.Ala1198=) c.3579T>G (p.Ala1193=) c.3558T>G (p.Ala1186=) c.3552T>G (p.Ala1184=) c.3507T>G (p.Ala1169=) c.3498T>G (p.Ala1166=) c.3474T>G (p.Ala1158=) c.3468T>G (p.Ala1156=) c.3441T>G (p.Ala1147=) c.3435T>G (p.Ala1145=) c.3429T>G (p.Ala1143=) c.3390T>G (p.Ala1130=) c.3378T>G (p.Ala1126=) c.3321T>G (p.Ala1107=) c.3297T>G (p.Ala1099=) c.3291T>G (p.Ala1097=) c.3273T>G (p.Ala1091=) c.3219T>G (p.Ala1073=) c.2526T>G (p.Ala842=) c.2439T>G (p.Ala813=) n.3715T>G | |
17 | g.39727754G>A | CA399313013 | ERBB2 | c.3478G>A (p.Ala1160Thr) c.3388G>A (p.Ala1130Thr) c.2650G>A (p.Ala884Thr) c.3433G>A (p.Ala1145Thr) c.*3268G>A (n.*3268G>A) c.*57G>A (n.*57G>A) n.3802G>A c.3616G>A (p.Ala1206Thr) c.3571G>A (p.Ala1191Thr) c.3526G>A (p.Ala1176Thr) c.3595G>A (p.Ala1199Thr) c.3580G>A (p.Ala1194Thr) c.3559G>A (p.Ala1187Thr) c.3553G>A (p.Ala1185Thr) c.3508G>A (p.Ala1170Thr) c.3499G>A (p.Ala1167Thr) c.3475G>A (p.Ala1159Thr) c.3469G>A (p.Ala1157Thr) c.3442G>A (p.Ala1148Thr) c.3436G>A (p.Ala1146Thr) c.3430G>A (p.Ala1144Thr) c.3391G>A (p.Ala1131Thr) c.3379G>A (p.Ala1127Thr) c.3322G>A (p.Ala1108Thr) c.3298G>A (p.Ala1100Thr) c.3292G>A (p.Ala1098Thr) c.3274G>A (p.Ala1092Thr) c.3220G>A (p.Ala1074Thr) c.2527G>A (p.Ala843Thr) c.2440G>A (p.Ala814Thr) n.3716G>A | dbSNP gnomAD v4 |
17 | g.39727754G>C | CA399313017 | ERBB2 | c.3478G>C (p.Ala1160Pro) c.3388G>C (p.Ala1130Pro) c.2650G>C (p.Ala884Pro) c.3433G>C (p.Ala1145Pro) c.*3268G>C (n.*3268G>C) c.*57G>C (n.*57G>C) n.3802G>C c.3616G>C (p.Ala1206Pro) c.3571G>C (p.Ala1191Pro) c.3526G>C (p.Ala1176Pro) c.3595G>C (p.Ala1199Pro) c.3580G>C (p.Ala1194Pro) c.3559G>C (p.Ala1187Pro) c.3553G>C (p.Ala1185Pro) c.3508G>C (p.Ala1170Pro) c.3499G>C (p.Ala1167Pro) c.3475G>C (p.Ala1159Pro) c.3469G>C (p.Ala1157Pro) c.3442G>C (p.Ala1148Pro) c.3436G>C (p.Ala1146Pro) c.3430G>C (p.Ala1144Pro) c.3391G>C (p.Ala1131Pro) c.3379G>C (p.Ala1127Pro) c.3322G>C (p.Ala1108Pro) c.3298G>C (p.Ala1100Pro) c.3292G>C (p.Ala1098Pro) c.3274G>C (p.Ala1092Pro) c.3220G>C (p.Ala1074Pro) c.2527G>C (p.Ala843Pro) c.2440G>C (p.Ala814Pro) n.3716G>C | dbSNP |
17 | g.39727754G>T | CA399313019 | ERBB2 | c.3478G>T (p.Ala1160Ser) c.3388G>T (p.Ala1130Ser) c.2650G>T (p.Ala884Ser) c.3433G>T (p.Ala1145Ser) c.*3268G>T (n.*3268G>T) c.*57G>T (n.*57G>T) n.3802G>T c.3616G>T (p.Ala1206Ser) c.3571G>T (p.Ala1191Ser) c.3526G>T (p.Ala1176Ser) c.3595G>T (p.Ala1199Ser) c.3580G>T (p.Ala1194Ser) c.3559G>T (p.Ala1187Ser) c.3553G>T (p.Ala1185Ser) c.3508G>T (p.Ala1170Ser) c.3499G>T (p.Ala1167Ser) c.3475G>T (p.Ala1159Ser) c.3469G>T (p.Ala1157Ser) c.3442G>T (p.Ala1148Ser) c.3436G>T (p.Ala1146Ser) c.3430G>T (p.Ala1144Ser) c.3391G>T (p.Ala1131Ser) c.3379G>T (p.Ala1127Ser) c.3322G>T (p.Ala1108Ser) c.3298G>T (p.Ala1100Ser) c.3292G>T (p.Ala1098Ser) c.3274G>T (p.Ala1092Ser) c.3220G>T (p.Ala1074Ser) c.2527G>T (p.Ala843Ser) c.2440G>T (p.Ala814Ser) n.3716G>T | dbSNP gnomAD v4 |
17 | g.39727755C>A | CA399313023 | ERBB2 | c.3479C>A (p.Ala1160Asp) c.3389C>A (p.Ala1130Asp) c.2651C>A (p.Ala884Asp) c.3434C>A (p.Ala1145Asp) c.*3269C>A (n.*3269C>A) c.*58C>A (n.*58C>A) n.3803C>A c.3617C>A (p.Ala1206Asp) c.3572C>A (p.Ala1191Asp) c.3527C>A (p.Ala1176Asp) c.3596C>A (p.Ala1199Asp) c.3581C>A (p.Ala1194Asp) c.3560C>A (p.Ala1187Asp) c.3554C>A (p.Ala1185Asp) c.3509C>A (p.Ala1170Asp) c.3500C>A (p.Ala1167Asp) c.3476C>A (p.Ala1159Asp) c.3470C>A (p.Ala1157Asp) c.3443C>A (p.Ala1148Asp) c.3437C>A (p.Ala1146Asp) c.3431C>A (p.Ala1144Asp) c.3392C>A (p.Ala1131Asp) c.3380C>A (p.Ala1127Asp) c.3323C>A (p.Ala1108Asp) c.3299C>A (p.Ala1100Asp) c.3293C>A (p.Ala1098Asp) c.3275C>A (p.Ala1092Asp) c.3221C>A (p.Ala1074Asp) c.2528C>A (p.Ala843Asp) c.2441C>A (p.Ala814Asp) n.3717C>A | dbSNP gnomAD v4 |
17 | g.39727755C>G | CA399313025 | ERBB2 | c.3479C>G (p.Ala1160Gly) c.3389C>G (p.Ala1130Gly) c.2651C>G (p.Ala884Gly) c.3434C>G (p.Ala1145Gly) c.*3269C>G (n.*3269C>G) c.*58C>G (n.*58C>G) n.3803C>G c.3617C>G (p.Ala1206Gly) c.3572C>G (p.Ala1191Gly) c.3527C>G (p.Ala1176Gly) c.3596C>G (p.Ala1199Gly) c.3581C>G (p.Ala1194Gly) c.3560C>G (p.Ala1187Gly) c.3554C>G (p.Ala1185Gly) c.3509C>G (p.Ala1170Gly) c.3500C>G (p.Ala1167Gly) c.3476C>G (p.Ala1159Gly) c.3470C>G (p.Ala1157Gly) c.3443C>G (p.Ala1148Gly) c.3437C>G (p.Ala1146Gly) c.3431C>G (p.Ala1144Gly) c.3392C>G (p.Ala1131Gly) c.3380C>G (p.Ala1127Gly) c.3323C>G (p.Ala1108Gly) c.3299C>G (p.Ala1100Gly) c.3293C>G (p.Ala1098Gly) c.3275C>G (p.Ala1092Gly) c.3221C>G (p.Ala1074Gly) c.2528C>G (p.Ala843Gly) c.2441C>G (p.Ala814Gly) n.3717C>G | dbSNP |
17 | g.39727755C>T | CA399313028 | ERBB2 | c.3479C>T (p.Ala1160Val) c.3389C>T (p.Ala1130Val) c.2651C>T (p.Ala884Val) c.3434C>T (p.Ala1145Val) c.*3269C>T (n.*3269C>T) c.*58C>T (n.*58C>T) n.3803C>T c.3617C>T (p.Ala1206Val) c.3572C>T (p.Ala1191Val) c.3527C>T (p.Ala1176Val) c.3596C>T (p.Ala1199Val) c.3581C>T (p.Ala1194Val) c.3560C>T (p.Ala1187Val) c.3554C>T (p.Ala1185Val) c.3509C>T (p.Ala1170Val) c.3500C>T (p.Ala1167Val) c.3476C>T (p.Ala1159Val) c.3470C>T (p.Ala1157Val) c.3443C>T (p.Ala1148Val) c.3437C>T (p.Ala1146Val) c.3431C>T (p.Ala1144Val) c.3392C>T (p.Ala1131Val) c.3380C>T (p.Ala1127Val) c.3323C>T (p.Ala1108Val) c.3299C>T (p.Ala1100Val) c.3293C>T (p.Ala1098Val) c.3275C>T (p.Ala1092Val) c.3221C>T (p.Ala1074Val) c.2528C>T (p.Ala843Val) c.2441C>T (p.Ala814Val) n.3717C>T | dbSNP gnomAD v4 |
17 | g.39727756C>A | CA499890600 | ERBB2 | c.3480C>A (p.Ala1160=) c.3390C>A (p.Ala1130=) c.2652C>A (p.Ala884=) c.3435C>A (p.Ala1145=) c.*3270C>A (n.*3270C>A) c.*59C>A (n.*59C>A) n.3804C>A c.3618C>A (p.Ala1206=) c.3573C>A (p.Ala1191=) c.3528C>A (p.Ala1176=) c.3597C>A (p.Ala1199=) c.3582C>A (p.Ala1194=) c.3561C>A (p.Ala1187=) c.3555C>A (p.Ala1185=) c.3510C>A (p.Ala1170=) c.3501C>A (p.Ala1167=) c.3477C>A (p.Ala1159=) c.3471C>A (p.Ala1157=) c.3444C>A (p.Ala1148=) c.3438C>A (p.Ala1146=) c.3432C>A (p.Ala1144=) c.3393C>A (p.Ala1131=) c.3381C>A (p.Ala1127=) c.3324C>A (p.Ala1108=) c.3300C>A (p.Ala1100=) c.3294C>A (p.Ala1098=) c.3276C>A (p.Ala1092=) c.3222C>A (p.Ala1074=) c.2529C>A (p.Ala843=) c.2442C>A (p.Ala814=) n.3718C>A | dbSNP |
17 | g.39727756C>G | CA499890601 | ERBB2 | c.3480C>G (p.Ala1160=) c.3390C>G (p.Ala1130=) c.2652C>G (p.Ala884=) c.3435C>G (p.Ala1145=) c.*3270C>G (n.*3270C>G) c.*59C>G (n.*59C>G) n.3804C>G c.3618C>G (p.Ala1206=) c.3573C>G (p.Ala1191=) c.3528C>G (p.Ala1176=) c.3597C>G (p.Ala1199=) c.3582C>G (p.Ala1194=) c.3561C>G (p.Ala1187=) c.3555C>G (p.Ala1185=) c.3510C>G (p.Ala1170=) c.3501C>G (p.Ala1167=) c.3477C>G (p.Ala1159=) c.3471C>G (p.Ala1157=) c.3444C>G (p.Ala1148=) c.3438C>G (p.Ala1146=) c.3432C>G (p.Ala1144=) c.3393C>G (p.Ala1131=) c.3381C>G (p.Ala1127=) c.3324C>G (p.Ala1108=) c.3300C>G (p.Ala1100=) c.3294C>G (p.Ala1098=) c.3276C>G (p.Ala1092=) c.3222C>G (p.Ala1074=) c.2529C>G (p.Ala843=) c.2442C>G (p.Ala814=) n.3718C>G | dbSNP |
17 | g.39727756C>T | CA499890602 | ERBB2 | c.3480C>T (p.Ala1160=) c.3390C>T (p.Ala1130=) c.2652C>T (p.Ala884=) c.3435C>T (p.Ala1145=) c.*3270C>T (n.*3270C>T) c.*59C>T (n.*59C>T) n.3804C>T c.3618C>T (p.Ala1206=) c.3573C>T (p.Ala1191=) c.3528C>T (p.Ala1176=) c.3597C>T (p.Ala1199=) c.3582C>T (p.Ala1194=) c.3561C>T (p.Ala1187=) c.3555C>T (p.Ala1185=) c.3510C>T (p.Ala1170=) c.3501C>T (p.Ala1167=) c.3477C>T (p.Ala1159=) c.3471C>T (p.Ala1157=) c.3444C>T (p.Ala1148=) c.3438C>T (p.Ala1146=) c.3432C>T (p.Ala1144=) c.3393C>T (p.Ala1131=) c.3381C>T (p.Ala1127=) c.3324C>T (p.Ala1108=) c.3300C>T (p.Ala1100=) c.3294C>T (p.Ala1098=) c.3276C>T (p.Ala1092=) c.3222C>T (p.Ala1074=) c.2529C>T (p.Ala843=) c.2442C>T (p.Ala814=) n.3718C>T | dbSNP |
17 | g.39727757C>A | CA499890605 | ERBB2 | c.3481C>A (p.Arg1161=) c.3391C>A (p.Arg1131=) c.2653C>A (p.Arg885=) c.3436C>A (p.Arg1146=) c.*3271C>A (n.*3271C>A) c.*60C>A (n.*60C>A) n.3805C>A c.3619C>A (p.Arg1207=) c.3574C>A (p.Arg1192=) c.3529C>A (p.Arg1177=) c.3598C>A (p.Arg1200=) c.3583C>A (p.Arg1195=) c.3562C>A (p.Arg1188=) c.3556C>A (p.Arg1186=) c.3511C>A (p.Arg1171=) c.3502C>A (p.Arg1168=) c.3478C>A (p.Arg1160=) c.3472C>A (p.Arg1158=) c.3445C>A (p.Arg1149=) c.3439C>A (p.Arg1147=) c.3433C>A (p.Arg1145=) c.3394C>A (p.Arg1132=) c.3382C>A (p.Arg1128=) c.3325C>A (p.Arg1109=) c.3301C>A (p.Arg1101=) c.3295C>A (p.Arg1099=) c.3277C>A (p.Arg1093=) c.3223C>A (p.Arg1075=) c.2530C>A (p.Arg844=) c.2443C>A (p.Arg815=) n.3719C>A | dbSNP gnomAD v4 COSMIC |
17 | g.39727757C= | CA2259229246 | ERBB2 | c.3481C= (p.Arg1161=) c.3391C= (p.Arg1131=) c.2653C= (p.Arg885=) c.3436C= (p.Arg1146=) c.*3271C= (n.*3271C=) c.*60C= (n.*60C=) n.3805C= c.3619C= (p.Arg1207=) c.3574C= (p.Arg1192=) c.3529C= (p.Arg1177=) c.3598C= (p.Arg1200=) c.3583C= (p.Arg1195=) c.3562C= (p.Arg1188=) c.3556C= (p.Arg1186=) c.3511C= (p.Arg1171=) c.3502C= (p.Arg1168=) c.3478C= (p.Arg1160=) c.3472C= (p.Arg1158=) c.3445C= (p.Arg1149=) c.3439C= (p.Arg1147=) c.3433C= (p.Arg1145=) c.3394C= (p.Arg1132=) c.3382C= (p.Arg1128=) c.3325C= (p.Arg1109=) c.3301C= (p.Arg1101=) c.3295C= (p.Arg1099=) c.3277C= (p.Arg1093=) c.3223C= (p.Arg1075=) c.2530C= (p.Arg844=) c.2443C= (p.Arg815=) n.3719C= | |
17 | g.39727757C>G | CA399313032 | ERBB2 | c.3481C>G (p.Arg1161Gly) c.3391C>G (p.Arg1131Gly) c.2653C>G (p.Arg885Gly) c.3436C>G (p.Arg1146Gly) c.*3271C>G (n.*3271C>G) c.*60C>G (n.*60C>G) n.3805C>G c.3619C>G (p.Arg1207Gly) c.3574C>G (p.Arg1192Gly) c.3529C>G (p.Arg1177Gly) c.3598C>G (p.Arg1200Gly) c.3583C>G (p.Arg1195Gly) c.3562C>G (p.Arg1188Gly) c.3556C>G (p.Arg1186Gly) c.3511C>G (p.Arg1171Gly) c.3502C>G (p.Arg1168Gly) c.3478C>G (p.Arg1160Gly) c.3472C>G (p.Arg1158Gly) c.3445C>G (p.Arg1149Gly) c.3439C>G (p.Arg1147Gly) c.3433C>G (p.Arg1145Gly) c.3394C>G (p.Arg1132Gly) c.3382C>G (p.Arg1128Gly) c.3325C>G (p.Arg1109Gly) c.3301C>G (p.Arg1101Gly) c.3295C>G (p.Arg1099Gly) c.3277C>G (p.Arg1093Gly) c.3223C>G (p.Arg1075Gly) c.2530C>G (p.Arg844Gly) c.2443C>G (p.Arg815Gly) n.3719C>G | dbSNP |
17 | g.39727757C>T | CA399313034 | ERBB2 | c.3481C>T (p.Arg1161Ter) c.3391C>T (p.Arg1131Ter) c.2653C>T (p.Arg885Ter) c.3436C>T (p.Arg1146Ter) c.*3271C>T (n.*3271C>T) c.*60C>T (n.*60C>T) n.3805C>T c.3619C>T (p.Arg1207Ter) c.3574C>T (p.Arg1192Ter) c.3529C>T (p.Arg1177Ter) c.3598C>T (p.Arg1200Ter) c.3583C>T (p.Arg1195Ter) c.3562C>T (p.Arg1188Ter) c.3556C>T (p.Arg1186Ter) c.3511C>T (p.Arg1171Ter) c.3502C>T (p.Arg1168Ter) c.3478C>T (p.Arg1160Ter) c.3472C>T (p.Arg1158Ter) c.3445C>T (p.Arg1149Ter) c.3439C>T (p.Arg1147Ter) c.3433C>T (p.Arg1145Ter) c.3394C>T (p.Arg1132Ter) c.3382C>T (p.Arg1128Ter) c.3325C>T (p.Arg1109Ter) c.3301C>T (p.Arg1101Ter) c.3295C>T (p.Arg1099Ter) c.3277C>T (p.Arg1093Ter) c.3223C>T (p.Arg1075Ter) c.2530C>T (p.Arg844Ter) c.2443C>T (p.Arg815Ter) n.3719C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727758G>A | CA158684 | ERBB2 | c.3482G>A (p.Arg1161Gln) c.3392G>A (p.Arg1131Gln) c.2654G>A (p.Arg885Gln) c.3437G>A (p.Arg1146Gln) c.*3272G>A (n.*3272G>A) c.*61G>A (n.*61G>A) n.3806G>A c.3620G>A (p.Arg1207Gln) c.3575G>A (p.Arg1192Gln) c.3530G>A (p.Arg1177Gln) c.3599G>A (p.Arg1200Gln) c.3584G>A (p.Arg1195Gln) c.3563G>A (p.Arg1188Gln) c.3557G>A (p.Arg1186Gln) c.3512G>A (p.Arg1171Gln) c.3503G>A (p.Arg1168Gln) c.3479G>A (p.Arg1160Gln) c.3473G>A (p.Arg1158Gln) c.3446G>A (p.Arg1149Gln) c.3440G>A (p.Arg1147Gln) c.3434G>A (p.Arg1145Gln) c.3395G>A (p.Arg1132Gln) c.3383G>A (p.Arg1128Gln) c.3326G>A (p.Arg1109Gln) c.3302G>A (p.Arg1101Gln) c.3296G>A (p.Arg1099Gln) c.3278G>A (p.Arg1093Gln) c.3224G>A (p.Arg1075Gln) c.2531G>A (p.Arg844Gln) c.2444G>A (p.Arg815Gln) n.3720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727758G>C | CA399313040 | ERBB2 | c.3482G>C (p.Arg1161Pro) c.3392G>C (p.Arg1131Pro) c.2654G>C (p.Arg885Pro) c.3437G>C (p.Arg1146Pro) c.*3272G>C (n.*3272G>C) c.*61G>C (n.*61G>C) n.3806G>C c.3620G>C (p.Arg1207Pro) c.3575G>C (p.Arg1192Pro) c.3530G>C (p.Arg1177Pro) c.3599G>C (p.Arg1200Pro) c.3584G>C (p.Arg1195Pro) c.3563G>C (p.Arg1188Pro) c.3557G>C (p.Arg1186Pro) c.3512G>C (p.Arg1171Pro) c.3503G>C (p.Arg1168Pro) c.3479G>C (p.Arg1160Pro) c.3473G>C (p.Arg1158Pro) c.3446G>C (p.Arg1149Pro) c.3440G>C (p.Arg1147Pro) c.3434G>C (p.Arg1145Pro) c.3395G>C (p.Arg1132Pro) c.3383G>C (p.Arg1128Pro) c.3326G>C (p.Arg1109Pro) c.3302G>C (p.Arg1101Pro) c.3296G>C (p.Arg1099Pro) c.3278G>C (p.Arg1093Pro) c.3224G>C (p.Arg1075Pro) c.2531G>C (p.Arg844Pro) c.2444G>C (p.Arg815Pro) n.3720G>C | dbSNP |
17 | g.39727758G= | CA2259229247 | ERBB2 | c.3482G= (p.Arg1161=) c.3392G= (p.Arg1131=) c.2654G= (p.Arg885=) c.3437G= (p.Arg1146=) c.*3272G= (n.*3272G=) c.*61G= (n.*61G=) n.3806G= c.3620G= (p.Arg1207=) c.3575G= (p.Arg1192=) c.3530G= (p.Arg1177=) c.3599G= (p.Arg1200=) c.3584G= (p.Arg1195=) c.3563G= (p.Arg1188=) c.3557G= (p.Arg1186=) c.3512G= (p.Arg1171=) c.3503G= (p.Arg1168=) c.3479G= (p.Arg1160=) c.3473G= (p.Arg1158=) c.3446G= (p.Arg1149=) c.3440G= (p.Arg1147=) c.3434G= (p.Arg1145=) c.3395G= (p.Arg1132=) c.3383G= (p.Arg1128=) c.3326G= (p.Arg1109=) c.3302G= (p.Arg1101=) c.3296G= (p.Arg1099=) c.3278G= (p.Arg1093=) c.3224G= (p.Arg1075=) c.2531G= (p.Arg844=) c.2444G= (p.Arg815=) n.3720G= | |
17 | g.39727758G>T | CA399313044 | ERBB2 | c.3482G>T (p.Arg1161Leu) c.3392G>T (p.Arg1131Leu) c.2654G>T (p.Arg885Leu) c.3437G>T (p.Arg1146Leu) c.*3272G>T (n.*3272G>T) c.*61G>T (n.*61G>T) n.3806G>T c.3620G>T (p.Arg1207Leu) c.3575G>T (p.Arg1192Leu) c.3530G>T (p.Arg1177Leu) c.3599G>T (p.Arg1200Leu) c.3584G>T (p.Arg1195Leu) c.3563G>T (p.Arg1188Leu) c.3557G>T (p.Arg1186Leu) c.3512G>T (p.Arg1171Leu) c.3503G>T (p.Arg1168Leu) c.3479G>T (p.Arg1160Leu) c.3473G>T (p.Arg1158Leu) c.3446G>T (p.Arg1149Leu) c.3440G>T (p.Arg1147Leu) c.3434G>T (p.Arg1145Leu) c.3395G>T (p.Arg1132Leu) c.3383G>T (p.Arg1128Leu) c.3326G>T (p.Arg1109Leu) c.3302G>T (p.Arg1101Leu) c.3296G>T (p.Arg1099Leu) c.3278G>T (p.Arg1093Leu) c.3224G>T (p.Arg1075Leu) c.2531G>T (p.Arg844Leu) c.2444G>T (p.Arg815Leu) n.3720G>T | dbSNP |
17 | g.39727759A= | CA2259229248 | ERBB2 | c.3483A= (p.Arg1161=) c.3393A= (p.Arg1131=) c.2655A= (p.Arg885=) c.3438A= (p.Arg1146=) c.*3273A= (n.*3273A=) c.*62A= (n.*62A=) n.3807A= c.3621A= (p.Arg1207=) c.3576A= (p.Arg1192=) c.3531A= (p.Arg1177=) c.3600A= (p.Arg1200=) c.3585A= (p.Arg1195=) c.3564A= (p.Arg1188=) c.3558A= (p.Arg1186=) c.3513A= (p.Arg1171=) c.3504A= (p.Arg1168=) c.3480A= (p.Arg1160=) c.3474A= (p.Arg1158=) c.3447A= (p.Arg1149=) c.3441A= (p.Arg1147=) c.3435A= (p.Arg1145=) c.3396A= (p.Arg1132=) c.3384A= (p.Arg1128=) c.3327A= (p.Arg1109=) c.3303A= (p.Arg1101=) c.3297A= (p.Arg1099=) c.3279A= (p.Arg1093=) c.3225A= (p.Arg1075=) c.2532A= (p.Arg844=) c.2445A= (p.Arg815=) n.3721A= | |
17 | g.39727759A>C | CA499890609 | ERBB2 | c.3483A>C (p.Arg1161=) c.3393A>C (p.Arg1131=) c.2655A>C (p.Arg885=) c.3438A>C (p.Arg1146=) c.*3273A>C (n.*3273A>C) c.*62A>C (n.*62A>C) n.3807A>C c.3621A>C (p.Arg1207=) c.3576A>C (p.Arg1192=) c.3531A>C (p.Arg1177=) c.3600A>C (p.Arg1200=) c.3585A>C (p.Arg1195=) c.3564A>C (p.Arg1188=) c.3558A>C (p.Arg1186=) c.3513A>C (p.Arg1171=) c.3504A>C (p.Arg1168=) c.3480A>C (p.Arg1160=) c.3474A>C (p.Arg1158=) c.3447A>C (p.Arg1149=) c.3441A>C (p.Arg1147=) c.3435A>C (p.Arg1145=) c.3396A>C (p.Arg1132=) c.3384A>C (p.Arg1128=) c.3327A>C (p.Arg1109=) c.3303A>C (p.Arg1101=) c.3297A>C (p.Arg1099=) c.3279A>C (p.Arg1093=) c.3225A>C (p.Arg1075=) c.2532A>C (p.Arg844=) c.2445A>C (p.Arg815=) n.3721A>C | dbSNP |
17 | g.39727759A>G | CA8534571 | ERBB2 | c.3483A>G (p.Arg1161=) c.3393A>G (p.Arg1131=) c.2655A>G (p.Arg885=) c.3438A>G (p.Arg1146=) c.*3273A>G (n.*3273A>G) c.*62A>G (n.*62A>G) n.3807A>G c.3621A>G (p.Arg1207=) c.3576A>G (p.Arg1192=) c.3531A>G (p.Arg1177=) c.3600A>G (p.Arg1200=) c.3585A>G (p.Arg1195=) c.3564A>G (p.Arg1188=) c.3558A>G (p.Arg1186=) c.3513A>G (p.Arg1171=) c.3504A>G (p.Arg1168=) c.3480A>G (p.Arg1160=) c.3474A>G (p.Arg1158=) c.3447A>G (p.Arg1149=) c.3441A>G (p.Arg1147=) c.3435A>G (p.Arg1145=) c.3396A>G (p.Arg1132=) c.3384A>G (p.Arg1128=) c.3327A>G (p.Arg1109=) c.3303A>G (p.Arg1101=) c.3297A>G (p.Arg1099=) c.3279A>G (p.Arg1093=) c.3225A>G (p.Arg1075=) c.2532A>G (p.Arg844=) c.2445A>G (p.Arg815=) n.3721A>G | dbSNP ExAC gnomAD v4 |
17 | g.39727759A>T | CA499890610 | ERBB2 | c.3483A>T (p.Arg1161=) c.3393A>T (p.Arg1131=) c.2655A>T (p.Arg885=) c.3438A>T (p.Arg1146=) c.*3273A>T (n.*3273A>T) c.*62A>T (n.*62A>T) n.3807A>T c.3621A>T (p.Arg1207=) c.3576A>T (p.Arg1192=) c.3531A>T (p.Arg1177=) c.3600A>T (p.Arg1200=) c.3585A>T (p.Arg1195=) c.3564A>T (p.Arg1188=) c.3558A>T (p.Arg1186=) c.3513A>T (p.Arg1171=) c.3504A>T (p.Arg1168=) c.3480A>T (p.Arg1160=) c.3474A>T (p.Arg1158=) c.3447A>T (p.Arg1149=) c.3441A>T (p.Arg1147=) c.3435A>T (p.Arg1145=) c.3396A>T (p.Arg1132=) c.3384A>T (p.Arg1128=) c.3327A>T (p.Arg1109=) c.3303A>T (p.Arg1101=) c.3297A>T (p.Arg1099=) c.3279A>T (p.Arg1093=) c.3225A>T (p.Arg1075=) c.2532A>T (p.Arg844=) c.2445A>T (p.Arg815=) n.3721A>T | dbSNP |
17 | g.39727760C>A | CA399313051 | ERBB2 | c.3484C>A (p.Pro1162Thr) c.3394C>A (p.Pro1132Thr) c.2656C>A (p.Pro886Thr) c.3439C>A (p.Pro1147Thr) c.*3274C>A (n.*3274C>A) c.*63C>A (n.*63C>A) n.3808C>A c.3622C>A (p.Pro1208Thr) c.3577C>A (p.Pro1193Thr) c.3532C>A (p.Pro1178Thr) c.3601C>A (p.Pro1201Thr) c.3586C>A (p.Pro1196Thr) c.3565C>A (p.Pro1189Thr) c.3559C>A (p.Pro1187Thr) c.3514C>A (p.Pro1172Thr) c.3505C>A (p.Pro1169Thr) c.3481C>A (p.Pro1161Thr) c.3475C>A (p.Pro1159Thr) c.3448C>A (p.Pro1150Thr) c.3442C>A (p.Pro1148Thr) c.3436C>A (p.Pro1146Thr) c.3397C>A (p.Pro1133Thr) c.3385C>A (p.Pro1129Thr) c.3328C>A (p.Pro1110Thr) c.3304C>A (p.Pro1102Thr) c.3298C>A (p.Pro1100Thr) c.3280C>A (p.Pro1094Thr) c.3226C>A (p.Pro1076Thr) c.2533C>A (p.Pro845Thr) c.2446C>A (p.Pro816Thr) n.3722C>A | gnomAD v4 |
17 | g.39727760C= | CA2259229249 | ERBB2 | c.3484C= (p.Pro1162=) c.3394C= (p.Pro1132=) c.2656C= (p.Pro886=) c.3439C= (p.Pro1147=) c.*3274C= (n.*3274C=) c.*63C= (n.*63C=) n.3808C= c.3622C= (p.Pro1208=) c.3577C= (p.Pro1193=) c.3532C= (p.Pro1178=) c.3601C= (p.Pro1201=) c.3586C= (p.Pro1196=) c.3565C= (p.Pro1189=) c.3559C= (p.Pro1187=) c.3514C= (p.Pro1172=) c.3505C= (p.Pro1169=) c.3481C= (p.Pro1161=) c.3475C= (p.Pro1159=) c.3448C= (p.Pro1150=) c.3442C= (p.Pro1148=) c.3436C= (p.Pro1146=) c.3397C= (p.Pro1133=) c.3385C= (p.Pro1129=) c.3328C= (p.Pro1110=) c.3304C= (p.Pro1102=) c.3298C= (p.Pro1100=) c.3280C= (p.Pro1094=) c.3226C= (p.Pro1076=) c.2533C= (p.Pro845=) c.2446C= (p.Pro816=) n.3722C= | |
17 | g.39727760C>G | CA399313054 | ERBB2 | c.3484C>G (p.Pro1162Ala) c.3394C>G (p.Pro1132Ala) c.2656C>G (p.Pro886Ala) c.3439C>G (p.Pro1147Ala) c.*3274C>G (n.*3274C>G) c.*63C>G (n.*63C>G) n.3808C>G c.3622C>G (p.Pro1208Ala) c.3577C>G (p.Pro1193Ala) c.3532C>G (p.Pro1178Ala) c.3601C>G (p.Pro1201Ala) c.3586C>G (p.Pro1196Ala) c.3565C>G (p.Pro1189Ala) c.3559C>G (p.Pro1187Ala) c.3514C>G (p.Pro1172Ala) c.3505C>G (p.Pro1169Ala) c.3481C>G (p.Pro1161Ala) c.3475C>G (p.Pro1159Ala) c.3448C>G (p.Pro1150Ala) c.3442C>G (p.Pro1148Ala) c.3436C>G (p.Pro1146Ala) c.3397C>G (p.Pro1133Ala) c.3385C>G (p.Pro1129Ala) c.3328C>G (p.Pro1110Ala) c.3304C>G (p.Pro1102Ala) c.3298C>G (p.Pro1100Ala) c.3280C>G (p.Pro1094Ala) c.3226C>G (p.Pro1076Ala) c.2533C>G (p.Pro845Ala) c.2446C>G (p.Pro816Ala) n.3722C>G | dbSNP |
17 | g.39727760C>T | CA8534572 | ERBB2 | c.3484C>T (p.Pro1162Ser) c.3394C>T (p.Pro1132Ser) c.2656C>T (p.Pro886Ser) c.3439C>T (p.Pro1147Ser) c.*3274C>T (n.*3274C>T) c.*63C>T (n.*63C>T) n.3808C>T c.3622C>T (p.Pro1208Ser) c.3577C>T (p.Pro1193Ser) c.3532C>T (p.Pro1178Ser) c.3601C>T (p.Pro1201Ser) c.3586C>T (p.Pro1196Ser) c.3565C>T (p.Pro1189Ser) c.3559C>T (p.Pro1187Ser) c.3514C>T (p.Pro1172Ser) c.3505C>T (p.Pro1169Ser) c.3481C>T (p.Pro1161Ser) c.3475C>T (p.Pro1159Ser) c.3448C>T (p.Pro1150Ser) c.3442C>T (p.Pro1148Ser) c.3436C>T (p.Pro1146Ser) c.3397C>T (p.Pro1133Ser) c.3385C>T (p.Pro1129Ser) c.3328C>T (p.Pro1110Ser) c.3304C>T (p.Pro1102Ser) c.3298C>T (p.Pro1100Ser) c.3280C>T (p.Pro1094Ser) c.3226C>T (p.Pro1076Ser) c.2533C>T (p.Pro845Ser) c.2446C>T (p.Pro816Ser) n.3722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727760_39727761insG | CA2259229250 | ERBB2 | c.3484_3485insG (p.Pro1162ArgfsTer?) c.3394_3395insG (p.Pro1132ArgfsTer?) c.2656_2657insG (p.Pro886ArgfsTer?) c.3439_3440insG (p.Pro1147ArgfsTer?) c.*3274_*3275insG (n.*3274_*3275insG) c.*63_*64insG (n.*63_*64insG) n.3808_3809insG c.3622_3623insG (p.Pro1208ArgfsTer?) c.3577_3578insG (p.Pro1193ArgfsTer?) c.3532_3533insG (p.Pro1178ArgfsTer?) c.3601_3602insG (p.Pro1201ArgfsTer?) c.3586_3587insG (p.Pro1196ArgfsTer?) c.3565_3566insG (p.Pro1189ArgfsTer?) c.3559_3560insG (p.Pro1187ArgfsTer?) c.3514_3515insG (p.Pro1172ArgfsTer?) c.3505_3506insG (p.Pro1169ArgfsTer?) c.3481_3482insG (p.Pro1161ArgfsTer?) c.3475_3476insG (p.Pro1159ArgfsTer?) c.3448_3449insG (p.Pro1150ArgfsTer?) c.3442_3443insG (p.Pro1148ArgfsTer?) c.3436_3437insG (p.Pro1146ArgfsTer?) c.3397_3398insG (p.Pro1133ArgfsTer?) c.3385_3386insG (p.Pro1129ArgfsTer?) c.3328_3329insG (p.Pro1110ArgfsTer?) c.3304_3305insG (p.Pro1102ArgfsTer?) c.3298_3299insG (p.Pro1100ArgfsTer?) c.3280_3281insG (p.Pro1094ArgfsTer?) c.3226_3227insG (p.Pro1076ArgfsTer?) c.2533_2534insG (p.Pro845ArgfsTer?) c.2446_2447insG (p.Pro816ArgfsTer?) n.3722_3723insG | ClinVar dbSNP |
17 | g.39727761C>A | CA399313055 | ERBB2 | c.3485C>A (p.Pro1162His) c.3395C>A (p.Pro1132His) c.2657C>A (p.Pro886His) c.3440C>A (p.Pro1147His) c.*3275C>A (n.*3275C>A) c.*64C>A (n.*64C>A) n.3809C>A c.3623C>A (p.Pro1208His) c.3578C>A (p.Pro1193His) c.3533C>A (p.Pro1178His) c.3602C>A (p.Pro1201His) c.3587C>A (p.Pro1196His) c.3566C>A (p.Pro1189His) c.3560C>A (p.Pro1187His) c.3515C>A (p.Pro1172His) c.3506C>A (p.Pro1169His) c.3482C>A (p.Pro1161His) c.3476C>A (p.Pro1159His) c.3449C>A (p.Pro1150His) c.3443C>A (p.Pro1148His) c.3437C>A (p.Pro1146His) c.3398C>A (p.Pro1133His) c.3386C>A (p.Pro1129His) c.3329C>A (p.Pro1110His) c.3305C>A (p.Pro1102His) c.3299C>A (p.Pro1100His) c.3281C>A (p.Pro1094His) c.3227C>A (p.Pro1076His) c.2534C>A (p.Pro845His) c.2447C>A (p.Pro816His) n.3723C>A | dbSNP gnomAD v4 |
17 | g.39727761C>G | CA399313058 | ERBB2 | c.3485C>G (p.Pro1162Arg) c.3395C>G (p.Pro1132Arg) c.2657C>G (p.Pro886Arg) c.3440C>G (p.Pro1147Arg) c.*3275C>G (n.*3275C>G) c.*64C>G (n.*64C>G) n.3809C>G c.3623C>G (p.Pro1208Arg) c.3578C>G (p.Pro1193Arg) c.3533C>G (p.Pro1178Arg) c.3602C>G (p.Pro1201Arg) c.3587C>G (p.Pro1196Arg) c.3566C>G (p.Pro1189Arg) c.3560C>G (p.Pro1187Arg) c.3515C>G (p.Pro1172Arg) c.3506C>G (p.Pro1169Arg) c.3482C>G (p.Pro1161Arg) c.3476C>G (p.Pro1159Arg) c.3449C>G (p.Pro1150Arg) c.3443C>G (p.Pro1148Arg) c.3437C>G (p.Pro1146Arg) c.3398C>G (p.Pro1133Arg) c.3386C>G (p.Pro1129Arg) c.3329C>G (p.Pro1110Arg) c.3305C>G (p.Pro1102Arg) c.3299C>G (p.Pro1100Arg) c.3281C>G (p.Pro1094Arg) c.3227C>G (p.Pro1076Arg) c.2534C>G (p.Pro845Arg) c.2447C>G (p.Pro816Arg) n.3723C>G | dbSNP |
17 | g.39727761C>T | CA399313060 | ERBB2 | c.3485C>T (p.Pro1162Leu) c.3395C>T (p.Pro1132Leu) c.2657C>T (p.Pro886Leu) c.3440C>T (p.Pro1147Leu) c.*3275C>T (n.*3275C>T) c.*64C>T (n.*64C>T) n.3809C>T c.3623C>T (p.Pro1208Leu) c.3578C>T (p.Pro1193Leu) c.3533C>T (p.Pro1178Leu) c.3602C>T (p.Pro1201Leu) c.3587C>T (p.Pro1196Leu) c.3566C>T (p.Pro1189Leu) c.3560C>T (p.Pro1187Leu) c.3515C>T (p.Pro1172Leu) c.3506C>T (p.Pro1169Leu) c.3482C>T (p.Pro1161Leu) c.3476C>T (p.Pro1159Leu) c.3449C>T (p.Pro1150Leu) c.3443C>T (p.Pro1148Leu) c.3437C>T (p.Pro1146Leu) c.3398C>T (p.Pro1133Leu) c.3386C>T (p.Pro1129Leu) c.3329C>T (p.Pro1110Leu) c.3305C>T (p.Pro1102Leu) c.3299C>T (p.Pro1100Leu) c.3281C>T (p.Pro1094Leu) c.3227C>T (p.Pro1076Leu) c.2534C>T (p.Pro845Leu) c.2447C>T (p.Pro816Leu) n.3723C>T | dbSNP |
17 | g.39727762T>A | CA499890617 | ERBB2 | c.3486T>A (p.Pro1162=) c.3396T>A (p.Pro1132=) c.2658T>A (p.Pro886=) c.3441T>A (p.Pro1147=) c.*3276T>A (n.*3276T>A) c.*65T>A (n.*65T>A) n.3810T>A c.3624T>A (p.Pro1208=) c.3579T>A (p.Pro1193=) c.3534T>A (p.Pro1178=) c.3603T>A (p.Pro1201=) c.3588T>A (p.Pro1196=) c.3567T>A (p.Pro1189=) c.3561T>A (p.Pro1187=) c.3516T>A (p.Pro1172=) c.3507T>A (p.Pro1169=) c.3483T>A (p.Pro1161=) c.3477T>A (p.Pro1159=) c.3450T>A (p.Pro1150=) c.3444T>A (p.Pro1148=) c.3438T>A (p.Pro1146=) c.3399T>A (p.Pro1133=) c.3387T>A (p.Pro1129=) c.3330T>A (p.Pro1110=) c.3306T>A (p.Pro1102=) c.3300T>A (p.Pro1100=) c.3282T>A (p.Pro1094=) c.3228T>A (p.Pro1076=) c.2535T>A (p.Pro845=) c.2448T>A (p.Pro816=) n.3724T>A | dbSNP |
17 | g.39727762T>C | CA499890618 | ERBB2 | c.3486T>C (p.Pro1162=) c.3396T>C (p.Pro1132=) c.2658T>C (p.Pro886=) c.3441T>C (p.Pro1147=) c.*3276T>C (n.*3276T>C) c.*65T>C (n.*65T>C) n.3810T>C c.3624T>C (p.Pro1208=) c.3579T>C (p.Pro1193=) c.3534T>C (p.Pro1178=) c.3603T>C (p.Pro1201=) c.3588T>C (p.Pro1196=) c.3567T>C (p.Pro1189=) c.3561T>C (p.Pro1187=) c.3516T>C (p.Pro1172=) c.3507T>C (p.Pro1169=) c.3483T>C (p.Pro1161=) c.3477T>C (p.Pro1159=) c.3450T>C (p.Pro1150=) c.3444T>C (p.Pro1148=) c.3438T>C (p.Pro1146=) c.3399T>C (p.Pro1133=) c.3387T>C (p.Pro1129=) c.3330T>C (p.Pro1110=) c.3306T>C (p.Pro1102=) c.3300T>C (p.Pro1100=) c.3282T>C (p.Pro1094=) c.3228T>C (p.Pro1076=) c.2535T>C (p.Pro845=) c.2448T>C (p.Pro816=) n.3724T>C | dbSNP |
17 | g.39727762T>G | CA499890620 | ERBB2 | c.3486T>G (p.Pro1162=) c.3396T>G (p.Pro1132=) c.2658T>G (p.Pro886=) c.3441T>G (p.Pro1147=) c.*3276T>G (n.*3276T>G) c.*65T>G (n.*65T>G) n.3810T>G c.3624T>G (p.Pro1208=) c.3579T>G (p.Pro1193=) c.3534T>G (p.Pro1178=) c.3603T>G (p.Pro1201=) c.3588T>G (p.Pro1196=) c.3567T>G (p.Pro1189=) c.3561T>G (p.Pro1187=) c.3516T>G (p.Pro1172=) c.3507T>G (p.Pro1169=) c.3483T>G (p.Pro1161=) c.3477T>G (p.Pro1159=) c.3450T>G (p.Pro1150=) c.3444T>G (p.Pro1148=) c.3438T>G (p.Pro1146=) c.3399T>G (p.Pro1133=) c.3387T>G (p.Pro1129=) c.3330T>G (p.Pro1110=) c.3306T>G (p.Pro1102=) c.3300T>G (p.Pro1100=) c.3282T>G (p.Pro1094=) c.3228T>G (p.Pro1076=) c.2535T>G (p.Pro845=) c.2448T>G (p.Pro816=) n.3724T>G | dbSNP |
17 | g.39727763G>A | CA290443850 | ERBB2 | c.3487G>A (p.Ala1163Thr) c.3397G>A (p.Ala1133Thr) c.2659G>A (p.Ala887Thr) c.3442G>A (p.Ala1148Thr) c.*3277G>A (n.*3277G>A) c.*66G>A (n.*66G>A) n.3811G>A c.3625G>A (p.Ala1209Thr) c.3580G>A (p.Ala1194Thr) c.3535G>A (p.Ala1179Thr) c.3604G>A (p.Ala1202Thr) c.3589G>A (p.Ala1197Thr) c.3568G>A (p.Ala1190Thr) c.3562G>A (p.Ala1188Thr) c.3517G>A (p.Ala1173Thr) c.3508G>A (p.Ala1170Thr) c.3484G>A (p.Ala1162Thr) c.3478G>A (p.Ala1160Thr) c.3451G>A (p.Ala1151Thr) c.3445G>A (p.Ala1149Thr) c.3439G>A (p.Ala1147Thr) c.3400G>A (p.Ala1134Thr) c.3388G>A (p.Ala1130Thr) c.3331G>A (p.Ala1111Thr) c.3307G>A (p.Ala1103Thr) c.3301G>A (p.Ala1101Thr) c.3283G>A (p.Ala1095Thr) c.3229G>A (p.Ala1077Thr) c.2536G>A (p.Ala846Thr) c.2449G>A (p.Ala817Thr) n.3725G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727763G>C | CA399313065 | ERBB2 | c.3487G>C (p.Ala1163Pro) c.3397G>C (p.Ala1133Pro) c.2659G>C (p.Ala887Pro) c.3442G>C (p.Ala1148Pro) c.*3277G>C (n.*3277G>C) c.*66G>C (n.*66G>C) n.3811G>C c.3625G>C (p.Ala1209Pro) c.3580G>C (p.Ala1194Pro) c.3535G>C (p.Ala1179Pro) c.3604G>C (p.Ala1202Pro) c.3589G>C (p.Ala1197Pro) c.3568G>C (p.Ala1190Pro) c.3562G>C (p.Ala1188Pro) c.3517G>C (p.Ala1173Pro) c.3508G>C (p.Ala1170Pro) c.3484G>C (p.Ala1162Pro) c.3478G>C (p.Ala1160Pro) c.3451G>C (p.Ala1151Pro) c.3445G>C (p.Ala1149Pro) c.3439G>C (p.Ala1147Pro) c.3400G>C (p.Ala1134Pro) c.3388G>C (p.Ala1130Pro) c.3331G>C (p.Ala1111Pro) c.3307G>C (p.Ala1103Pro) c.3301G>C (p.Ala1101Pro) c.3283G>C (p.Ala1095Pro) c.3229G>C (p.Ala1077Pro) c.2536G>C (p.Ala846Pro) c.2449G>C (p.Ala817Pro) n.3725G>C | dbSNP |
17 | g.39727763G= | CA2259229251 | ERBB2 | c.3487G= (p.Ala1163=) c.3397G= (p.Ala1133=) c.2659G= (p.Ala887=) c.3442G= (p.Ala1148=) c.*3277G= (n.*3277G=) c.*66G= (n.*66G=) n.3811G= c.3625G= (p.Ala1209=) c.3580G= (p.Ala1194=) c.3535G= (p.Ala1179=) c.3604G= (p.Ala1202=) c.3589G= (p.Ala1197=) c.3568G= (p.Ala1190=) c.3562G= (p.Ala1188=) c.3517G= (p.Ala1173=) c.3508G= (p.Ala1170=) c.3484G= (p.Ala1162=) c.3478G= (p.Ala1160=) c.3451G= (p.Ala1151=) c.3445G= (p.Ala1149=) c.3439G= (p.Ala1147=) c.3400G= (p.Ala1134=) c.3388G= (p.Ala1130=) c.3331G= (p.Ala1111=) c.3307G= (p.Ala1103=) c.3301G= (p.Ala1101=) c.3283G= (p.Ala1095=) c.3229G= (p.Ala1077=) c.2536G= (p.Ala846=) c.2449G= (p.Ala817=) n.3725G= | |
17 | g.39727763G>T | CA399313068 | ERBB2 | c.3487G>T (p.Ala1163Ser) c.3397G>T (p.Ala1133Ser) c.2659G>T (p.Ala887Ser) c.3442G>T (p.Ala1148Ser) c.*3277G>T (n.*3277G>T) c.*66G>T (n.*66G>T) n.3811G>T c.3625G>T (p.Ala1209Ser) c.3580G>T (p.Ala1194Ser) c.3535G>T (p.Ala1179Ser) c.3604G>T (p.Ala1202Ser) c.3589G>T (p.Ala1197Ser) c.3568G>T (p.Ala1190Ser) c.3562G>T (p.Ala1188Ser) c.3517G>T (p.Ala1173Ser) c.3508G>T (p.Ala1170Ser) c.3484G>T (p.Ala1162Ser) c.3478G>T (p.Ala1160Ser) c.3451G>T (p.Ala1151Ser) c.3445G>T (p.Ala1149Ser) c.3439G>T (p.Ala1147Ser) c.3400G>T (p.Ala1134Ser) c.3388G>T (p.Ala1130Ser) c.3331G>T (p.Ala1111Ser) c.3307G>T (p.Ala1103Ser) c.3301G>T (p.Ala1101Ser) c.3283G>T (p.Ala1095Ser) c.3229G>T (p.Ala1077Ser) c.2536G>T (p.Ala846Ser) c.2449G>T (p.Ala817Ser) n.3725G>T | dbSNP |
17 | g.39727764C>A | CA399313071 | ERBB2 | c.3488C>A (p.Ala1163Asp) c.3398C>A (p.Ala1133Asp) c.2660C>A (p.Ala887Asp) c.3443C>A (p.Ala1148Asp) c.*3278C>A (n.*3278C>A) c.*67C>A (n.*67C>A) n.3812C>A c.3626C>A (p.Ala1209Asp) c.3581C>A (p.Ala1194Asp) c.3536C>A (p.Ala1179Asp) c.3605C>A (p.Ala1202Asp) c.3590C>A (p.Ala1197Asp) c.3569C>A (p.Ala1190Asp) c.3563C>A (p.Ala1188Asp) c.3518C>A (p.Ala1173Asp) c.3509C>A (p.Ala1170Asp) c.3485C>A (p.Ala1162Asp) c.3479C>A (p.Ala1160Asp) c.3452C>A (p.Ala1151Asp) c.3446C>A (p.Ala1149Asp) c.3440C>A (p.Ala1147Asp) c.3401C>A (p.Ala1134Asp) c.3389C>A (p.Ala1130Asp) c.3332C>A (p.Ala1111Asp) c.3308C>A (p.Ala1103Asp) c.3302C>A (p.Ala1101Asp) c.3284C>A (p.Ala1095Asp) c.3230C>A (p.Ala1077Asp) c.2537C>A (p.Ala846Asp) c.2450C>A (p.Ala817Asp) n.3726C>A | dbSNP |
17 | g.39727764C>G | CA399313074 | ERBB2 | c.3488C>G (p.Ala1163Gly) c.3398C>G (p.Ala1133Gly) c.2660C>G (p.Ala887Gly) c.3443C>G (p.Ala1148Gly) c.*3278C>G (n.*3278C>G) c.*67C>G (n.*67C>G) n.3812C>G c.3626C>G (p.Ala1209Gly) c.3581C>G (p.Ala1194Gly) c.3536C>G (p.Ala1179Gly) c.3605C>G (p.Ala1202Gly) c.3590C>G (p.Ala1197Gly) c.3569C>G (p.Ala1190Gly) c.3563C>G (p.Ala1188Gly) c.3518C>G (p.Ala1173Gly) c.3509C>G (p.Ala1170Gly) c.3485C>G (p.Ala1162Gly) c.3479C>G (p.Ala1160Gly) c.3452C>G (p.Ala1151Gly) c.3446C>G (p.Ala1149Gly) c.3440C>G (p.Ala1147Gly) c.3401C>G (p.Ala1134Gly) c.3389C>G (p.Ala1130Gly) c.3332C>G (p.Ala1111Gly) c.3308C>G (p.Ala1103Gly) c.3302C>G (p.Ala1101Gly) c.3284C>G (p.Ala1095Gly) c.3230C>G (p.Ala1077Gly) c.2537C>G (p.Ala846Gly) c.2450C>G (p.Ala817Gly) n.3726C>G | dbSNP |
17 | g.39727764C>T | CA399313077 | ERBB2 | c.3488C>T (p.Ala1163Val) c.3398C>T (p.Ala1133Val) c.2660C>T (p.Ala887Val) c.3443C>T (p.Ala1148Val) c.*3278C>T (n.*3278C>T) c.*67C>T (n.*67C>T) n.3812C>T c.3626C>T (p.Ala1209Val) c.3581C>T (p.Ala1194Val) c.3536C>T (p.Ala1179Val) c.3605C>T (p.Ala1202Val) c.3590C>T (p.Ala1197Val) c.3569C>T (p.Ala1190Val) c.3563C>T (p.Ala1188Val) c.3518C>T (p.Ala1173Val) c.3509C>T (p.Ala1170Val) c.3485C>T (p.Ala1162Val) c.3479C>T (p.Ala1160Val) c.3452C>T (p.Ala1151Val) c.3446C>T (p.Ala1149Val) c.3440C>T (p.Ala1147Val) c.3401C>T (p.Ala1134Val) c.3389C>T (p.Ala1130Val) c.3332C>T (p.Ala1111Val) c.3308C>T (p.Ala1103Val) c.3302C>T (p.Ala1101Val) c.3284C>T (p.Ala1095Val) c.3230C>T (p.Ala1077Val) c.2537C>T (p.Ala846Val) c.2450C>T (p.Ala817Val) n.3726C>T | dbSNP |
17 | g.39727765T>A | CA499890625 | ERBB2 | c.3489T>A (p.Ala1163=) c.3399T>A (p.Ala1133=) c.2661T>A (p.Ala887=) c.3444T>A (p.Ala1148=) c.*3279T>A (n.*3279T>A) c.*68T>A (n.*68T>A) n.3813T>A c.3627T>A (p.Ala1209=) c.3582T>A (p.Ala1194=) c.3537T>A (p.Ala1179=) c.3606T>A (p.Ala1202=) c.3591T>A (p.Ala1197=) c.3570T>A (p.Ala1190=) c.3564T>A (p.Ala1188=) c.3519T>A (p.Ala1173=) c.3510T>A (p.Ala1170=) c.3486T>A (p.Ala1162=) c.3480T>A (p.Ala1160=) c.3453T>A (p.Ala1151=) c.3447T>A (p.Ala1149=) c.3441T>A (p.Ala1147=) c.3402T>A (p.Ala1134=) c.3390T>A (p.Ala1130=) c.3333T>A (p.Ala1111=) c.3309T>A (p.Ala1103=) c.3303T>A (p.Ala1101=) c.3285T>A (p.Ala1095=) c.3231T>A (p.Ala1077=) c.2538T>A (p.Ala846=) c.2451T>A (p.Ala817=) n.3727T>A | |
17 | g.39727765T>C | CA499890626 | ERBB2 | c.3489T>C (p.Ala1163=) c.3399T>C (p.Ala1133=) c.2661T>C (p.Ala887=) c.3444T>C (p.Ala1148=) c.*3279T>C (n.*3279T>C) c.*68T>C (n.*68T>C) n.3813T>C c.3627T>C (p.Ala1209=) c.3582T>C (p.Ala1194=) c.3537T>C (p.Ala1179=) c.3606T>C (p.Ala1202=) c.3591T>C (p.Ala1197=) c.3570T>C (p.Ala1190=) c.3564T>C (p.Ala1188=) c.3519T>C (p.Ala1173=) c.3510T>C (p.Ala1170=) c.3486T>C (p.Ala1162=) c.3480T>C (p.Ala1160=) c.3453T>C (p.Ala1151=) c.3447T>C (p.Ala1149=) c.3441T>C (p.Ala1147=) c.3402T>C (p.Ala1134=) c.3390T>C (p.Ala1130=) c.3333T>C (p.Ala1111=) c.3309T>C (p.Ala1103=) c.3303T>C (p.Ala1101=) c.3285T>C (p.Ala1095=) c.3231T>C (p.Ala1077=) c.2538T>C (p.Ala846=) c.2451T>C (p.Ala817=) n.3727T>C | |
17 | g.39727765T>G | CA499890627 | ERBB2 | c.3489T>G (p.Ala1163=) c.3399T>G (p.Ala1133=) c.2661T>G (p.Ala887=) c.3444T>G (p.Ala1148=) c.*3279T>G (n.*3279T>G) c.*68T>G (n.*68T>G) n.3813T>G c.3627T>G (p.Ala1209=) c.3582T>G (p.Ala1194=) c.3537T>G (p.Ala1179=) c.3606T>G (p.Ala1202=) c.3591T>G (p.Ala1197=) c.3570T>G (p.Ala1190=) c.3564T>G (p.Ala1188=) c.3519T>G (p.Ala1173=) c.3510T>G (p.Ala1170=) c.3486T>G (p.Ala1162=) c.3480T>G (p.Ala1160=) c.3453T>G (p.Ala1151=) c.3447T>G (p.Ala1149=) c.3441T>G (p.Ala1147=) c.3402T>G (p.Ala1134=) c.3390T>G (p.Ala1130=) c.3333T>G (p.Ala1111=) c.3309T>G (p.Ala1103=) c.3303T>G (p.Ala1101=) c.3285T>G (p.Ala1095=) c.3231T>G (p.Ala1077=) c.2538T>G (p.Ala846=) c.2451T>G (p.Ala817=) n.3727T>G | |
17 | g.39727765dup | CA2576254914 | ERBB2 | c.3489dup (p.Gly1164TrpfsTer?) c.3399dup (p.Gly1134TrpfsTer?) c.2661dup (p.Gly888TrpfsTer?) c.3444dup (p.Gly1149TrpfsTer?) c.*3279dup (n.*3279dup) c.*68dup (n.*68dup) n.3813dup c.3627dup (p.Gly1210TrpfsTer?) c.3582dup (p.Gly1195TrpfsTer?) c.3537dup (p.Gly1180TrpfsTer?) c.3606dup (p.Gly1203TrpfsTer?) c.3591dup (p.Gly1198TrpfsTer?) c.3570dup (p.Gly1191TrpfsTer?) c.3564dup (p.Gly1189TrpfsTer?) c.3519dup (p.Gly1174TrpfsTer?) c.3510dup (p.Gly1171TrpfsTer?) c.3486dup (p.Gly1163TrpfsTer?) c.3480dup (p.Gly1161TrpfsTer?) c.3453dup (p.Gly1152TrpfsTer?) c.3447dup (p.Gly1150TrpfsTer?) c.3441dup (p.Gly1148TrpfsTer?) c.3402dup (p.Gly1135TrpfsTer?) c.3390dup (p.Gly1131TrpfsTer?) c.3333dup (p.Gly1112TrpfsTer?) c.3309dup (p.Gly1104TrpfsTer?) c.3303dup (p.Gly1102TrpfsTer?) c.3285dup (p.Gly1096TrpfsTer?) c.3231dup (p.Gly1078TrpfsTer?) c.2538dup (p.Gly847TrpfsTer?) c.2451dup (p.Gly818TrpfsTer?) n.3727dup | |
17 | g.39727766G>A | CA399313081 | ERBB2 | c.3490G>A (p.Gly1164Ser) c.3400G>A (p.Gly1134Ser) c.2662G>A (p.Gly888Ser) c.3445G>A (p.Gly1149Ser) c.*3280G>A (n.*3280G>A) c.*69G>A (n.*69G>A) n.3814G>A c.3628G>A (p.Gly1210Ser) c.3583G>A (p.Gly1195Ser) c.3538G>A (p.Gly1180Ser) c.3607G>A (p.Gly1203Ser) c.3592G>A (p.Gly1198Ser) c.3571G>A (p.Gly1191Ser) c.3565G>A (p.Gly1189Ser) c.3520G>A (p.Gly1174Ser) c.3511G>A (p.Gly1171Ser) c.3487G>A (p.Gly1163Ser) c.3481G>A (p.Gly1161Ser) c.3454G>A (p.Gly1152Ser) c.3448G>A (p.Gly1150Ser) c.3442G>A (p.Gly1148Ser) c.3403G>A (p.Gly1135Ser) c.3391G>A (p.Gly1131Ser) c.3334G>A (p.Gly1112Ser) c.3310G>A (p.Gly1104Ser) c.3304G>A (p.Gly1102Ser) c.3286G>A (p.Gly1096Ser) c.3232G>A (p.Gly1078Ser) c.2539G>A (p.Gly847Ser) c.2452G>A (p.Gly818Ser) n.3728G>A | dbSNP gnomAD v4 |
17 | g.39727766G>C | CA399313084 | ERBB2 | c.3490G>C (p.Gly1164Arg) c.3400G>C (p.Gly1134Arg) c.2662G>C (p.Gly888Arg) c.3445G>C (p.Gly1149Arg) c.*3280G>C (n.*3280G>C) c.*69G>C (n.*69G>C) n.3814G>C c.3628G>C (p.Gly1210Arg) c.3583G>C (p.Gly1195Arg) c.3538G>C (p.Gly1180Arg) c.3607G>C (p.Gly1203Arg) c.3592G>C (p.Gly1198Arg) c.3571G>C (p.Gly1191Arg) c.3565G>C (p.Gly1189Arg) c.3520G>C (p.Gly1174Arg) c.3511G>C (p.Gly1171Arg) c.3487G>C (p.Gly1163Arg) c.3481G>C (p.Gly1161Arg) c.3454G>C (p.Gly1152Arg) c.3448G>C (p.Gly1150Arg) c.3442G>C (p.Gly1148Arg) c.3403G>C (p.Gly1135Arg) c.3391G>C (p.Gly1131Arg) c.3334G>C (p.Gly1112Arg) c.3310G>C (p.Gly1104Arg) c.3304G>C (p.Gly1102Arg) c.3286G>C (p.Gly1096Arg) c.3232G>C (p.Gly1078Arg) c.2539G>C (p.Gly847Arg) c.2452G>C (p.Gly818Arg) n.3728G>C | gnomAD v4 |
17 | g.39727766G>T | CA399313087 | ERBB2 | c.3490G>T (p.Gly1164Cys) c.3400G>T (p.Gly1134Cys) c.2662G>T (p.Gly888Cys) c.3445G>T (p.Gly1149Cys) c.*3280G>T (n.*3280G>T) c.*69G>T (n.*69G>T) n.3814G>T c.3628G>T (p.Gly1210Cys) c.3583G>T (p.Gly1195Cys) c.3538G>T (p.Gly1180Cys) c.3607G>T (p.Gly1203Cys) c.3592G>T (p.Gly1198Cys) c.3571G>T (p.Gly1191Cys) c.3565G>T (p.Gly1189Cys) c.3520G>T (p.Gly1174Cys) c.3511G>T (p.Gly1171Cys) c.3487G>T (p.Gly1163Cys) c.3481G>T (p.Gly1161Cys) c.3454G>T (p.Gly1152Cys) c.3448G>T (p.Gly1150Cys) c.3442G>T (p.Gly1148Cys) c.3403G>T (p.Gly1135Cys) c.3391G>T (p.Gly1131Cys) c.3334G>T (p.Gly1112Cys) c.3310G>T (p.Gly1104Cys) c.3304G>T (p.Gly1102Cys) c.3286G>T (p.Gly1096Cys) c.3232G>T (p.Gly1078Cys) c.2539G>T (p.Gly847Cys) c.2452G>T (p.Gly818Cys) n.3728G>T | |
17 | g.39727767G>A | CA399313094 | ERBB2 | c.3491G>A (p.Gly1164Asp) c.3401G>A (p.Gly1134Asp) c.2663G>A (p.Gly888Asp) c.3446G>A (p.Gly1149Asp) c.*3281G>A (n.*3281G>A) c.*70G>A (n.*70G>A) n.3815G>A c.3629G>A (p.Gly1210Asp) c.3584G>A (p.Gly1195Asp) c.3539G>A (p.Gly1180Asp) c.3608G>A (p.Gly1203Asp) c.3593G>A (p.Gly1198Asp) c.3572G>A (p.Gly1191Asp) c.3566G>A (p.Gly1189Asp) c.3521G>A (p.Gly1174Asp) c.3512G>A (p.Gly1171Asp) c.3488G>A (p.Gly1163Asp) c.3482G>A (p.Gly1161Asp) c.3455G>A (p.Gly1152Asp) c.3449G>A (p.Gly1150Asp) c.3443G>A (p.Gly1148Asp) c.3404G>A (p.Gly1135Asp) c.3392G>A (p.Gly1131Asp) c.3335G>A (p.Gly1112Asp) c.3311G>A (p.Gly1104Asp) c.3305G>A (p.Gly1102Asp) c.3287G>A (p.Gly1096Asp) c.3233G>A (p.Gly1078Asp) c.2540G>A (p.Gly847Asp) c.2453G>A (p.Gly818Asp) n.3729G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727767G>C | CA399313096 | ERBB2 | c.3491G>C (p.Gly1164Ala) c.3401G>C (p.Gly1134Ala) c.2663G>C (p.Gly888Ala) c.3446G>C (p.Gly1149Ala) c.*3281G>C (n.*3281G>C) c.*70G>C (n.*70G>C) n.3815G>C c.3629G>C (p.Gly1210Ala) c.3584G>C (p.Gly1195Ala) c.3539G>C (p.Gly1180Ala) c.3608G>C (p.Gly1203Ala) c.3593G>C (p.Gly1198Ala) c.3572G>C (p.Gly1191Ala) c.3566G>C (p.Gly1189Ala) c.3521G>C (p.Gly1174Ala) c.3512G>C (p.Gly1171Ala) c.3488G>C (p.Gly1163Ala) c.3482G>C (p.Gly1161Ala) c.3455G>C (p.Gly1152Ala) c.3449G>C (p.Gly1150Ala) c.3443G>C (p.Gly1148Ala) c.3404G>C (p.Gly1135Ala) c.3392G>C (p.Gly1131Ala) c.3335G>C (p.Gly1112Ala) c.3311G>C (p.Gly1104Ala) c.3305G>C (p.Gly1102Ala) c.3287G>C (p.Gly1096Ala) c.3233G>C (p.Gly1078Ala) c.2540G>C (p.Gly847Ala) c.2453G>C (p.Gly818Ala) n.3729G>C | dbSNP |
17 | g.39727767G= | CA2259229252 | ERBB2 | c.3491G= (p.Gly1164=) c.3401G= (p.Gly1134=) c.2663G= (p.Gly888=) c.3446G= (p.Gly1149=) c.*3281G= (n.*3281G=) c.*70G= (n.*70G=) n.3815G= c.3629G= (p.Gly1210=) c.3584G= (p.Gly1195=) c.3539G= (p.Gly1180=) c.3608G= (p.Gly1203=) c.3593G= (p.Gly1198=) c.3572G= (p.Gly1191=) c.3566G= (p.Gly1189=) c.3521G= (p.Gly1174=) c.3512G= (p.Gly1171=) c.3488G= (p.Gly1163=) c.3482G= (p.Gly1161=) c.3455G= (p.Gly1152=) c.3449G= (p.Gly1150=) c.3443G= (p.Gly1148=) c.3404G= (p.Gly1135=) c.3392G= (p.Gly1131=) c.3335G= (p.Gly1112=) c.3311G= (p.Gly1104=) c.3305G= (p.Gly1102=) c.3287G= (p.Gly1096=) c.3233G= (p.Gly1078=) c.2540G= (p.Gly847=) c.2453G= (p.Gly818=) n.3729G= | |
17 | g.39727767G>T | CA399313091 | ERBB2 | c.3491G>T (p.Gly1164Val) c.3401G>T (p.Gly1134Val) c.2663G>T (p.Gly888Val) c.3446G>T (p.Gly1149Val) c.*3281G>T (n.*3281G>T) c.*70G>T (n.*70G>T) n.3815G>T c.3629G>T (p.Gly1210Val) c.3584G>T (p.Gly1195Val) c.3539G>T (p.Gly1180Val) c.3608G>T (p.Gly1203Val) c.3593G>T (p.Gly1198Val) c.3572G>T (p.Gly1191Val) c.3566G>T (p.Gly1189Val) c.3521G>T (p.Gly1174Val) c.3512G>T (p.Gly1171Val) c.3488G>T (p.Gly1163Val) c.3482G>T (p.Gly1161Val) c.3455G>T (p.Gly1152Val) c.3449G>T (p.Gly1150Val) c.3443G>T (p.Gly1148Val) c.3404G>T (p.Gly1135Val) c.3392G>T (p.Gly1131Val) c.3335G>T (p.Gly1112Val) c.3311G>T (p.Gly1104Val) c.3305G>T (p.Gly1102Val) c.3287G>T (p.Gly1096Val) c.3233G>T (p.Gly1078Val) c.2540G>T (p.Gly847Val) c.2453G>T (p.Gly818Val) n.3729G>T | gnomAD v4 |
17 | g.39727768T>A | CA499890629 | ERBB2 | c.3492T>A (p.Gly1164=) c.3402T>A (p.Gly1134=) c.2664T>A (p.Gly888=) c.3447T>A (p.Gly1149=) c.*3282T>A (n.*3282T>A) c.*71T>A (n.*71T>A) n.3816T>A c.3630T>A (p.Gly1210=) c.3585T>A (p.Gly1195=) c.3540T>A (p.Gly1180=) c.3609T>A (p.Gly1203=) c.3594T>A (p.Gly1198=) c.3573T>A (p.Gly1191=) c.3567T>A (p.Gly1189=) c.3522T>A (p.Gly1174=) c.3513T>A (p.Gly1171=) c.3489T>A (p.Gly1163=) c.3483T>A (p.Gly1161=) c.3456T>A (p.Gly1152=) c.3450T>A (p.Gly1150=) c.3444T>A (p.Gly1148=) c.3405T>A (p.Gly1135=) c.3393T>A (p.Gly1131=) c.3336T>A (p.Gly1112=) c.3312T>A (p.Gly1104=) c.3306T>A (p.Gly1102=) c.3288T>A (p.Gly1096=) c.3234T>A (p.Gly1078=) c.2541T>A (p.Gly847=) c.2454T>A (p.Gly818=) n.3730T>A | dbSNP |
17 | g.39727768T>C | CA499890630 | ERBB2 | c.3492T>C (p.Gly1164=) c.3402T>C (p.Gly1134=) c.2664T>C (p.Gly888=) c.3447T>C (p.Gly1149=) c.*3282T>C (n.*3282T>C) c.*71T>C (n.*71T>C) n.3816T>C c.3630T>C (p.Gly1210=) c.3585T>C (p.Gly1195=) c.3540T>C (p.Gly1180=) c.3609T>C (p.Gly1203=) c.3594T>C (p.Gly1198=) c.3573T>C (p.Gly1191=) c.3567T>C (p.Gly1189=) c.3522T>C (p.Gly1174=) c.3513T>C (p.Gly1171=) c.3489T>C (p.Gly1163=) c.3483T>C (p.Gly1161=) c.3456T>C (p.Gly1152=) c.3450T>C (p.Gly1150=) c.3444T>C (p.Gly1148=) c.3405T>C (p.Gly1135=) c.3393T>C (p.Gly1131=) c.3336T>C (p.Gly1112=) c.3312T>C (p.Gly1104=) c.3306T>C (p.Gly1102=) c.3288T>C (p.Gly1096=) c.3234T>C (p.Gly1078=) c.2541T>C (p.Gly847=) c.2454T>C (p.Gly818=) n.3730T>C | dbSNP |
17 | g.39727768T>G | CA499890631 | ERBB2 | c.3492T>G (p.Gly1164=) c.3402T>G (p.Gly1134=) c.2664T>G (p.Gly888=) c.3447T>G (p.Gly1149=) c.*3282T>G (n.*3282T>G) c.*71T>G (n.*71T>G) n.3816T>G c.3630T>G (p.Gly1210=) c.3585T>G (p.Gly1195=) c.3540T>G (p.Gly1180=) c.3609T>G (p.Gly1203=) c.3594T>G (p.Gly1198=) c.3573T>G (p.Gly1191=) c.3567T>G (p.Gly1189=) c.3522T>G (p.Gly1174=) c.3513T>G (p.Gly1171=) c.3489T>G (p.Gly1163=) c.3483T>G (p.Gly1161=) c.3456T>G (p.Gly1152=) c.3450T>G (p.Gly1150=) c.3444T>G (p.Gly1148=) c.3405T>G (p.Gly1135=) c.3393T>G (p.Gly1131=) c.3336T>G (p.Gly1112=) c.3312T>G (p.Gly1104=) c.3306T>G (p.Gly1102=) c.3288T>G (p.Gly1096=) c.3234T>G (p.Gly1078=) c.2541T>G (p.Gly847=) c.2454T>G (p.Gly818=) n.3730T>G | dbSNP |
17 | g.39727769G>A | CA399313100 | ERBB2 | c.3493G>A (p.Ala1165Thr) c.3403G>A (p.Ala1135Thr) c.2665G>A (p.Ala889Thr) c.3448G>A (p.Ala1150Thr) c.*3283G>A (n.*3283G>A) c.*72G>A (n.*72G>A) n.3817G>A c.3631G>A (p.Ala1211Thr) c.3586G>A (p.Ala1196Thr) c.3541G>A (p.Ala1181Thr) c.3610G>A (p.Ala1204Thr) c.3595G>A (p.Ala1199Thr) c.3574G>A (p.Ala1192Thr) c.3568G>A (p.Ala1190Thr) c.3523G>A (p.Ala1175Thr) c.3514G>A (p.Ala1172Thr) c.3490G>A (p.Ala1164Thr) c.3484G>A (p.Ala1162Thr) c.3457G>A (p.Ala1153Thr) c.3451G>A (p.Ala1151Thr) c.3445G>A (p.Ala1149Thr) c.3406G>A (p.Ala1136Thr) c.3394G>A (p.Ala1132Thr) c.3337G>A (p.Ala1113Thr) c.3313G>A (p.Ala1105Thr) c.3307G>A (p.Ala1103Thr) c.3289G>A (p.Ala1097Thr) c.3235G>A (p.Ala1079Thr) c.2542G>A (p.Ala848Thr) c.2455G>A (p.Ala819Thr) n.3731G>A | ClinVar |
17 | g.39727769G>C | CA399313102 | ERBB2 | c.3493G>C (p.Ala1165Pro) c.3403G>C (p.Ala1135Pro) c.2665G>C (p.Ala889Pro) c.3448G>C (p.Ala1150Pro) c.*3283G>C (n.*3283G>C) c.*72G>C (n.*72G>C) n.3817G>C c.3631G>C (p.Ala1211Pro) c.3586G>C (p.Ala1196Pro) c.3541G>C (p.Ala1181Pro) c.3610G>C (p.Ala1204Pro) c.3595G>C (p.Ala1199Pro) c.3574G>C (p.Ala1192Pro) c.3568G>C (p.Ala1190Pro) c.3523G>C (p.Ala1175Pro) c.3514G>C (p.Ala1172Pro) c.3490G>C (p.Ala1164Pro) c.3484G>C (p.Ala1162Pro) c.3457G>C (p.Ala1153Pro) c.3451G>C (p.Ala1151Pro) c.3445G>C (p.Ala1149Pro) c.3406G>C (p.Ala1136Pro) c.3394G>C (p.Ala1132Pro) c.3337G>C (p.Ala1113Pro) c.3313G>C (p.Ala1105Pro) c.3307G>C (p.Ala1103Pro) c.3289G>C (p.Ala1097Pro) c.3235G>C (p.Ala1079Pro) c.2542G>C (p.Ala848Pro) c.2455G>C (p.Ala819Pro) n.3731G>C | dbSNP |
17 | g.39727769G>T | CA399313105 | ERBB2 | c.3493G>T (p.Ala1165Ser) c.3403G>T (p.Ala1135Ser) c.2665G>T (p.Ala889Ser) c.3448G>T (p.Ala1150Ser) c.*3283G>T (n.*3283G>T) c.*72G>T (n.*72G>T) n.3817G>T c.3631G>T (p.Ala1211Ser) c.3586G>T (p.Ala1196Ser) c.3541G>T (p.Ala1181Ser) c.3610G>T (p.Ala1204Ser) c.3595G>T (p.Ala1199Ser) c.3574G>T (p.Ala1192Ser) c.3568G>T (p.Ala1190Ser) c.3523G>T (p.Ala1175Ser) c.3514G>T (p.Ala1172Ser) c.3490G>T (p.Ala1164Ser) c.3484G>T (p.Ala1162Ser) c.3457G>T (p.Ala1153Ser) c.3451G>T (p.Ala1151Ser) c.3445G>T (p.Ala1149Ser) c.3406G>T (p.Ala1136Ser) c.3394G>T (p.Ala1132Ser) c.3337G>T (p.Ala1113Ser) c.3313G>T (p.Ala1105Ser) c.3307G>T (p.Ala1103Ser) c.3289G>T (p.Ala1097Ser) c.3235G>T (p.Ala1079Ser) c.2542G>T (p.Ala848Ser) c.2455G>T (p.Ala819Ser) n.3731G>T |