Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1751 | chr6 | 106107442 | C | T |
c.2434C>T
|
p.Pro812Ser
|
- | 3.0 |
|
B | |
| 3647 | chr6 | 107720702 | C | T |
c.973+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 19467 | chr6 | 107893550 | GT | G |
c.1605del
|
p.Lys535AsnfsTer28
|
3.0 |
|
B | ||
| 15347 | chr6 | 108663448 | C | T |
c.622-7C>T
|
-
|
- | 3.0 |
|
B | |
| 30310 | chr6 | 108663489 | G | C |
c.656G>C
|
p.Arg219Pro
|
- | 3.0 |
|
B | |
| 35386 | chr6 | 108663759 | TC | T |
c.928del
|
p.Arg310ValfsTer49
|
- | 3.0 |
|
B | |
| 23048 | chr6 | 108663761 | C | T |
c.928C>T
|
p.Arg310Cys
|
3.0 |
|
B | ||
| 25524 | chr6 | 108663950 | G | C |
c.1117G>C
|
p.Ala373Pro
|
- | 3.0 |
|
B | |
| 16638 | chr6 | 108663973 | T | TG |
c.1143dup
|
p.Leu382AlafsTer3
|
3.0 |
|
B | ||
| 31032 | chr6 | 108664023 | C | G |
c.1190C>G
|
p.Pro397Arg
|
3.0 |
|
B | ||
| 23943 | chr6 | 108664295 | C | A |
c.1462C>A
|
p.Gln488Lys
|
- | 3.0 |
|
B | |
| 4680 | chr6 | 109546019 | C | G |
c.3073G>C
|
p.Val1025Leu
|
- | 3.0 |
|
B | |
| 19600 | chr6 | 111266157 | AT | A |
c.604del
|
p.Cys202ValfsTer4
|
3.0 |
|
B | ||
| 22735 | chr6 | 111661911 | C | G |
c.1442G>C
|
p.Arg481Pro
|
- | 3.0 |
|
B | |
| 25333 | chr6 | 111674583 | C | T |
c.1321G>A
|
p.Gly441Arg
|
- | 3.0 |
|
B | |
| 23472 | chr6 | 111696351 | T | C |
c.968A>G
|
p.His323Arg
|
- | 3.0 |
|
B | |
| 35387 | chr6 | 111696353 | C | A |
c.966G>T
|
p.Lys322Asn
|
- | 3.0 |
|
B | |
| 15183 | chr6 | 111696362 | C | G |
c.957G>C
|
p.Lys319Asn
|
- | 3.0 |
|
B | |
| 19308 | chr6 | 111714389 | A | G |
c.302T>C
|
p.Leu101Pro
|
- | 3.0 |
|
B | |
| 19468 | chr6 | 111719822 | C | T |
c.230G>A
|
p.Arg77His
|
3.0 |
|
B |