Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23394 | chr16 | 3793625 | G | A |
c.977C>T
|
p.Ser326Phe
|
3.0 |
|
B | ||
| 19756 | chr16 | 3850395 | C | T |
c.700G>A
|
p.Ala234Thr
|
2.5 |
|
B | ||
| 30230 | chr16 | 3850406 | G | A |
c.689C>T
|
p.Ala230Val
|
3.0 |
|
B | ||
| 21428 | chr16 | 3850503 | T | G |
c.592A>C
|
p.Ile198Leu
|
- | 3.0 |
|
B | |
| 10345 | chr16 | 3850629 | G | A |
c.466C>T
|
p.Gln156Ter
|
- | 4.0 |
|
B | |
| 7814 | chr16 | 3850768 | A | C |
c.327T>G
|
p.Ser109Arg
|
- | 3.0 |
|
B | |
| 31976 | chr16 | 3850971 | C | A |
c.124G>T
|
p.Asp42Tyr
|
- | 3.0 |
|
B | |
| 31449 | chr16 | 3879830 | A | T |
c.85+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 16112 | chr16 | 3879869 | TTTGGCTCTTTTGGGG | T |
c.33_47del
|
p.Asn11_Ala15del
|
- | 3.0 |
|
B | |
| 3288 | chr16 | 5239887 | A | G |
c.1A>G
|
p.Met1?
|
1.0 |
|
B | ||
| 5432 | chr16 | 9763190 | G | A |
c.4354C>T
|
p.Arg1452Cys
|
2.5 |
|
B | ||
| 7772 | chr16 | 9763216 | C | CT |
c.4327dup
|
p.Arg1443LysfsTer9
|
- | 4.0 |
|
B | |
| 34162 | chr16 | 9763255 | G | T |
c.4289C>A
|
p.Pro1430His
|
- | 3.0 |
|
B | |
| 26653 | chr16 | 9763453 | T | C |
c.4091A>G
|
p.Asp1364Gly
|
- | 3.0 |
|
B | |
| 1319 | chr16 | 9763478 | A | T |
c.4066T>A
|
p.Ser1356Thr
|
- | 3.0 |
|
B | |
| 19690 | chr16 | 9763522 | CT | C |
c.4021del
|
p.Ser1341AlafsTer56
|
4.0 |
|
B | ||
| 23762 | chr16 | 9763579 | C | T |
c.3965G>A
|
p.Gly1322Glu
|
3.0 |
|
B | ||
| 20789 | chr16 | 9763681 | C | T |
c.3863G>A
|
p.Arg1288His
|
3.0 |
|
B | ||
| 32706 | chr16 | 9763736 | C | T |
c.3808G>A
|
p.Asp1270Asn
|
- | 3.0 |
|
B | |
| 2013 | chr16 | 9763822 | C | T |
c.3722G>A
|
p.Arg1241Gln
|
3.0 |
|
B |