Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12129 | chr17 | 59064350 | C | T |
c.860+5G>A
|
-
|
- | 3.0 |
|
B | |
| 2881 | chr17 | 59064407 | TA | T |
c.810-3del
|
-
|
2.0 |
|
B | ||
| 20146 | chr17 | 59070884 | G | A |
c.748C>T
|
p.Gln250Ter
|
- | 3.0 |
|
B | |
| 22390 | chr17 | 59070957 | G | A |
c.685-10C>T
|
-
|
3.0 |
|
B | ||
| 30370 | chr17 | 59081099 | C | T |
c.490G>A
|
p.Val164Met
|
- | 3.0 |
|
B | |
| 9333 | chr17 | 59081191 | G | A |
c.398C>T
|
p.Ala133Val
|
1.0 |
|
B | ||
| 14164 | chr17 | 59081191 | G | T |
c.398C>A
|
p.Ala133Glu
|
- | 3.0 |
|
B | |
| 16210 | chr17 | 59081221 | T | C |
c.370-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 13345 | chr17 | 59088291 | T | G |
c.281A>C
|
p.Lys94Thr
|
- | 3.0 |
|
B | |
| 9225 | chr17 | 59090070 | G | A |
c.164+1230C>T
|
-
|
3.0 |
|
B | ||
| 6265 | chr17 | 59090091 | C | G |
c.164+1209G>C
|
-
|
- | 3.0 |
|
B | |
| 3130 | chr17 | 59091323 | C | G |
c.141G>C
|
p.Gln47His
|
- | 3.0 |
|
B | |
| 30764 | chr17 | 59106459 | C | T |
c.3G>A
-
|
p.Met1?
-
|
- | 3.0 |
|
B | |
| 19773 | chr17 | 59169809 | CA | C |
c.66del
|
p.Glu23LysfsTer9
|
3.0 |
|
B | ||
| 25453 | chr17 | 59620159 | C | G |
c.28C>G
|
p.Gln10Glu
|
3.0 |
|
B | ||
| 8869 | chr17 | 59648236 | A | C |
c.520-4A>C
|
-
|
- | 3.0 |
|
B | |
| 2999 | chr17 | 59648336 | A | G |
c.616A>G
|
p.Met206Val
|
- | 3.5 |
|
B | |
| 13462 | chr17 | 59655851 | T | G |
c.796-3T>G
|
-
|
- | 3.0 |
|
B | |
| 19226 | chr17 | 59655880 | C | G |
c.822C>G
|
p.Phe274Leu
|
- | 3.0 |
|
B | |
| 6023 | chr17 | 59660481 | C | T |
c.1060C>T
|
p.Arg354Cys
|
3.0 |
|
B |