Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18164 | chr16 | 15838225 | C | T |
c.28G>A
|
p.Asp10Asn
|
3.0 |
|
B | ||
| 15019 | chr16 | 19119476 | GT | G |
c.*3419del
|
-
|
3.0 |
|
B | ||
| 4762 | chr16 | 19504973 | C | T |
c.756G>A
|
p.Met252Ile
|
- | 3.0 |
|
B | |
| 4763 | chr16 | 20365424 | C | T |
c.1233G>A
|
p.Met411Ile
|
- | 3.0 |
|
B | |
| 3705 | chr16 | 20959338 | T | A |
c.10529A>T
|
p.Gln3510Leu
|
- | 3.0 |
|
B | |
| 3706 | chr16 | 22534422 | TTCCACCCTCAGC | T |
c.1452_1463del
|
p.Pro485_Ala488del
|
2.5 |
|
B | ||
| 24424 | chr16 | 23603409 | ACTAAGAGGCCCAATATATCCAGAAAATTGTGTTTTCACTTTACCCTAACTTATGAATAGT | A |
c.3551_*49del
|
p.His1184_Ter1188delinsLeu
|
- | 3.5 |
|
B | |
| 16345 | chr16 | 23603518 | C | G |
c.3502G>C
|
p.Asp1168His
|
- | 3.0 |
|
B | |
| 9365 | chr16 | 23621476 | C | T |
c.2999G>A
|
p.Gly1000Asp
|
3.0 |
|
B | ||
| 16471 | chr16 | 23623011 | G | C |
c.2954C>G
|
p.Ser985Cys
|
- | 3.0 |
|
B | |
| 17677 | chr16 | 23623059 | A | C |
c.2906T>G
|
p.Val969Gly
|
- | 3.0 |
|
B | |
| 13483 | chr16 | 23623113 | G | A |
c.2852C>T
|
p.Ser951Phe
|
2.5 |
|
B | ||
| 27621 | chr16 | 23623114 | AG | A |
c.2850del
|
p.Ser951LeufsTer11
|
4.0 |
|
B | ||
| 32750 | chr16 | 23623147 | G | A |
c.2835-17C>T
|
-
|
3.0 |
|
B | ||
| 19104 | chr16 | 23626248 | C | A |
c.2736G>T
|
p.Trp912Cys
|
- | 3.0 |
|
B | |
| 35353 | chr16 | 23626297 | G | T |
c.2687C>A
|
p.Ser896Tyr
|
- | 3.0 |
|
B | |
| 28617 | chr16 | 23630250 | A | C |
c.1904T>G
|
p.Val635Gly
|
- | 3.0 |
|
B | |
| 8988 | chr16 | 23630351 | C | G |
c.1803G>C
|
p.Lys601Asn
|
3.0 |
|
B | ||
| 22378 | chr16 | 23630429 | C | T |
c.1725G>A
|
p.Trp575Ter
|
- | 4.0 |
|
B | |
| 3190 | chr16 | 23630468 | C | A |
c.1686G>T
|
p.Gly562=
|
- | 3.0 |
|
B |