Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28817 | chr16 | 56834724 | C | T |
c.1738-10C>T
|
-
|
- | 3.0 |
|
B | |
| 27041 | chr16 | 56834737 | G | T |
c.1741G>T
|
p.Asp581Tyr
|
- | 3.0 |
|
B | |
| 8852 | chr16 | 56836620 | T | A |
c.1802T>A
|
p.Phe601Tyr
|
- | 3.0 |
|
B | |
| 18850 | chr16 | 56837599 | C | A |
c.1900-9C>A
|
-
|
- | 3.0 |
|
B | |
| 8605 | chr16 | 56837602 | G | C |
c.1900-6G>C
|
-
|
- | 3.0 |
|
B | |
| 9920 | chr16 | 56837634 | G | T |
c.1926G>T
|
p.Met642Ile
|
- | 3.0 |
|
B | |
| 30859 | chr16 | 56837665 | A | C |
c.1957A>C
|
p.Ile653Leu
|
- | 3.0 |
|
B | |
| 16161 | chr16 | 56839018 | G | C |
c.2085G>C
|
p.Leu695Phe
|
- | 3.0 |
|
B | |
| 11946 | chr16 | 56839502 | C | T |
c.2137-19C>T
|
-
|
2.5 |
|
B | ||
| 7170 | chr16 | 56839530 | C | T |
c.2146C>T
|
p.Arg716Cys
|
3.0 |
|
B | ||
| 30727 | chr16 | 56839588 | G | C |
c.2204G>C
|
p.Arg735Thr
|
- | 3.0 |
|
B | |
| 3548 | chr16 | 57566653 | T | TG |
c.608dup
|
p.Trp204LeufsTer4
|
3.0 |
|
B | ||
| 3549 | chr16 | 57985264 | G | A |
c.519G>A
|
p.Trp173Ter
|
- | 3.0 |
|
B | |
| 24670 | chr16 | 58521180 | C | T |
c.7052+3G>A
c.*2151C>T
|
-
-
|
- | 3.0 |
|
B | |
| 35190 | chr16 | 58523443 | G | A |
c.6844C>T
c.*4414G>A
|
p.His2282Tyr
-
|
3.0 |
|
B | ||
| 3088 | chr16 | 58525196 | A | C |
c.6767T>G
-
|
p.Val2256Gly
-
|
- | 3.0 |
|
B | |
| 30394 | chr16 | 58528606 | C | T |
c.6322G>A
-
|
p.Glu2108Lys
-
|
- | 3.0 |
|
B | |
| 2334 | chr16 | 58530334 | T | G |
c.6191A>C
|
p.Tyr2064Ser
|
- | 3.0 |
|
B | |
| 13550 | chr16 | 58530358 | G | C |
c.6178-11C>G
|
-
|
- | 3.0 |
|
B | |
| 32194 | chr16 | 58532221 | A | C |
c.6059+11T>G
|
-
|
- | 3.0 |
|
B |