Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27329 | chr17 | 8205324 | A | C |
c.753T>G
|
p.Asn251Lys
|
3.0 |
|
B | ||
| 7896 | chr17 | 8205392 | TG | T |
c.687-3del
|
-
|
- | 3.0 |
|
B | |
| 15287 | chr17 | 8206513 | A | C |
c.664T>G
|
p.Ser222Ala
|
3.0 |
|
B | ||
| 26152 | chr17 | 8206514 | C | T |
c.663G>A
|
p.Trp221Ter
|
- | 3.0 |
|
B | |
| 32317 | chr17 | 8206784 | T | G |
c.503A>C
|
p.Lys168Thr
|
- | 3.0 |
|
B | |
| 14307 | chr17 | 8206891 | G | A |
c.399-3C>T
|
-
|
3.0 |
|
B | ||
| 23949 | chr17 | 8207343 | A | C |
c.231T>G
|
p.Phe77Leu
|
- | 3.0 |
|
B | |
| 19762 | chr17 | 8207853 | AG | A |
c.49-14del
|
-
|
- | 3.0 |
|
B | |
| 4764 | chr17 | 8315149 | A | T |
c.1132A>T
|
p.Asn378Tyr
|
3.0 |
|
B | ||
| 4765 | chr17 | 8315150 | A | T |
c.1133A>T
|
p.Asn378Ile
|
- | 3.0 |
|
B | |
| 29989 | chr17 | 8880719 | C | T |
c.2563G>A
|
p.Asp855Asn
|
- | 3.0 |
|
B | |
| 16219 | chr17 | 8880727 | G | A |
c.2555C>T
|
p.Thr852Met
|
3.0 |
|
B | ||
| 9932 | chr17 | 8880762 | C | A |
c.2520G>T
|
p.Lys840Asn
|
- | 3.0 |
|
B | |
| 25645 | chr17 | 8881731 | C | T |
c.2300-19G>A
|
-
|
- | 3.0 |
|
B | |
| 33333 | chr17 | 8886458 | C | T |
c.2034+19G>A
|
-
|
3.0 |
|
B | ||
| 17988 | chr17 | 8887681 | C | T |
c.1619G>A
|
p.Arg540Gln
|
3.0 |
|
B | ||
| 12547 | chr17 | 8888235 | G | A |
c.1552C>T
|
p.Arg518Cys
|
3.0 |
|
B | ||
| 28292 | chr17 | 8888286 | G | A |
c.1501C>T
|
p.Arg501Cys
|
3.0 |
|
B | ||
| 15777 | chr17 | 8888330 | G | T |
c.1457C>A
|
p.Thr486Asn
|
- | 3.0 |
|
B | |
| 35661 | chr17 | 8888412 | G | A |
c.1375C>T
|
p.Leu459Phe
|
3.0 |
|
B |