Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28044 | chr17 | 31200444 | G | A |
c.911G>A
|
p.Arg304Gln
|
3.0 |
|
B | ||
| 35458 | chr17 | 31200512 | CTG | C |
c.983_984del
|
p.Cys328Ter
|
4.5 |
|
B | ||
| 9364 | chr17 | 31200549 | ACT | A |
c.1019_1020del
|
p.Ser340CysfsTer12
|
4.5 |
|
B | ||
| 25317 | chr17 | 31200606 | T | C |
c.1062+11T>C
|
-
|
- | 3.0 |
|
B | |
| 33127 | chr17 | 31201024 | G | A |
c.1063-13G>A
|
-
|
3.5 |
|
B | ||
| 28001 | chr17 | 31201068 | C | G |
c.1094C>G
|
p.Ser365Ter
|
4.5 |
|
B | ||
| 2420 | chr17 | 31201110 | G | GC |
c.1138dup
|
p.Leu380ProfsTer16
|
- | 4.0 |
|
B | |
| 12440 | chr17 | 31201127 | C | T |
c.1153C>T
|
p.Arg385Cys
|
3.0 |
|
B | ||
| 35272 | chr17 | 31201153 | C | CTT |
c.1181_1182dup
|
p.Lys395LeufsTer18
|
4.0 |
|
B | ||
| 24127 | chr17 | 31201388 | CT | C |
c.1186-13del
|
-
|
2.0 |
|
B | ||
| 16029 | chr17 | 31201399 | C | A |
c.1186-12C>A
|
-
|
- | 3.0 |
|
B | |
| 7927 | chr17 | 31201454 | T | C |
c.1229T>C
|
p.Leu410Pro
|
3.0 |
|
B | ||
| 18170 | chr17 | 31201466 | T | C |
c.1241T>C
|
p.Leu414Pro
|
- | 3.0 |
|
B | |
| 1314 | chr17 | 31201484 | ATG | A |
c.1260+1_1260+2del
|
p.?
|
- | 4.0 |
|
B | |
| 14045 | chr17 | 31201485 | TG | T |
c.1260+1del
|
p.?
|
- | 4.0 |
|
B | |
| 8920 | chr17 | 31201486 | G | A |
c.1260+1G>A
|
p.?
|
4.0 |
|
B | ||
| 8533 | chr17 | 31201487 | T | C |
c.1260+2T>C
|
p.?
|
4.5 |
|
B | ||
| 6955 | chr17 | 31206238 | A | G |
c.1261-2A>G
|
p.?
|
4.0 |
|
B | ||
| 28045 | chr17 | 31206243 | G | A |
c.1264G>A
|
p.Ala422Thr
|
2.5 |
|
B | ||
| 7333 | chr17 | 31214524 | A | G |
c.1466A>G
|
p.Tyr489Cys
|
3.5 |
|
B |