Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35354 | chr16 | 23634936 | G | A |
c.1610C>T
|
p.Ser537Leu
|
2.5 |
|
B | ||
| 17618 | chr16 | 23634945 | GA | G |
c.1600del
|
p.Ser534LeufsTer27
|
- | 4.0 |
|
B | |
| 13549 | chr16 | 23635109 | C | A |
c.1437G>T
|
p.Gln479His
|
- | 3.0 |
|
B | |
| 9224 | chr16 | 23635196 | A | C |
c.1350T>G
|
p.Asn450Lys
|
- | 3.0 |
|
B | |
| 29223 | chr16 | 23635266 | G | A |
c.1280C>T
|
p.Ala427Val
|
- | 3.0 |
|
B | |
| 6517 | chr16 | 23635468 | C | T |
c.1078G>A
|
p.Asp360Asn
|
- | 3.0 |
|
B | |
| 34817 | chr16 | 23635473 | G | A |
c.1073C>T
|
p.Pro358Leu
|
2.5 |
|
B | ||
| 8273 | chr16 | 23635492 | CTGTT | C |
c.1050_1053del
|
p.Thr351ArgfsTer4
|
4.0 |
|
B | ||
| 1048 | chr16 | 23635504 | G | A |
c.1042C>T
|
p.Gln348Ter
|
4.0 |
|
B | ||
| 33877 | chr16 | 23635659 | AT | A |
c.886del
|
p.Met296Ter
|
- | 4.5 |
|
B | |
| 2259 | chr16 | 23635684 | T | A |
c.862A>T
|
p.Ser288Cys
|
- | 3.0 |
|
B | |
| 18015 | chr16 | 23635719 | TGAGTAGTAAGTTCACTGCTACCTTTAGGAG | T |
c.797_826del
|
p.Pro266_Thr275del
|
- | 3.0 |
|
B | |
| 30527 | chr16 | 23635793 | C | A |
c.753G>T
|
p.Gln251His
|
- | 3.0 |
|
B | |
| 21545 | chr16 | 23635812 | G | A |
c.734C>T
|
p.Ala245Val
|
2.5 |
|
B | ||
| 6848 | chr16 | 23636308 | C | T |
c.238G>A
|
p.Asp80Asn
|
- | 3.0 |
|
B | |
| 30323 | chr16 | 23637895 | C | CT |
c.165dup
-
|
p.Asp56ArgfsTer18
-
|
- | 4.0 |
|
B | |
| 32990 | chr16 | 23637942 | C | A |
c.119G>T
-
|
p.Arg40Ile
-
|
- | 3.0 |
|
B | |
| 26005 | chr16 | 23638063 | C | G |
c.108+7G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 24285 | chr16 | 23638597 | A | T |
c.49-468T>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 29392 | chr16 | 23640240 | G | A |
c.48+870C>T
-
|
-
-
|
- | 3.0 |
|
B |