Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3137 | chr17 | 40630230 | G | A |
c.1027+484C>T
|
-
|
- | 3.0 |
|
B | |
| 9877 | chr17 | 40630903 | C | T |
c.838G>A
|
p.Val280Met
|
- | 3.0 |
|
B | |
| 35030 | chr17 | 40631663 | C | G |
c.745G>C
|
p.Glu249Gln
|
- | 3.0 |
|
B | |
| 12643 | chr17 | 40631690 | T | A |
c.718A>T
|
p.Lys240Ter
|
- | 3.5 |
|
B | |
| 2998 | chr17 | 40635999 | C | T |
c.473G>A
|
p.Arg158Gln
|
3.0 |
|
B | ||
| 18730 | chr17 | 40636105 | G | C |
c.370-3C>G
|
-
|
- | 3.0 |
|
B | |
| 21553 | chr17 | 40636448 | C | A |
c.316G>T
|
p.Asp106Tyr
|
- | 3.0 |
|
B | |
| 21554 | chr17 | 40637524 | G | A |
c.205C>T
|
p.Pro69Ser
|
- | 3.0 |
|
B | |
| 16483 | chr17 | 40642523 | G | A |
c.88C>T
|
p.Pro30Ser
|
- | 3.0 |
|
B | |
| 24259 | chr17 | 40645866 | G | GA |
c.-45-20dup
|
-
|
3.0 |
|
B | ||
| 3273 | chr17 | 41059986 | G | C |
c.65C>G
-
|
p.Pro22Arg
-
|
3.0 |
|
B | ||
| 3554 | chr17 | 41422355 | C | T |
c.812G>A
|
p.Arg271Lys
|
3.0 |
|
B | ||
| 8897 | chr17 | 42202351 | C | CATGT |
c.2222_2225dup
|
p.Met742IlefsTer8
|
- | 3.0 |
|
B | |
| 11525 | chr17 | 42207558 | C | T |
c.2077G>A
|
p.Ala693Thr
|
- | 3.0 |
|
B | |
| 6461 | chr17 | 42207640 | G | T |
c.1995C>A
|
p.Tyr665Ter
|
- | 3.0 |
|
B | |
| 24486 | chr17 | 42217149 | G | A |
c.1380+11C>T
|
-
|
- | 3.0 |
|
B | |
| 32803 | chr17 | 42217285 | A | T |
c.1258-3T>A
|
-
|
- | 3.0 |
|
B | |
| 6423 | chr17 | 42217371 | C | T |
c.1257+6G>A
|
-
|
3.0 |
|
B | ||
| 1895 | chr17 | 42217394 | C | A |
c.1240G>T
|
p.Ala414Ser
|
- | 3.0 |
|
B | |
| 16436 | chr17 | 42217475 | G | C |
c.1170-11C>G
|
-
|
- | 3.0 |
|
B |