Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13423 | chr6 | 152721731 | C | T |
c.197-11C>T
|
-
|
3.0 |
|
B | ||
| 26803 | chr6 | 152721743 | G | A |
c.198G>A
|
p.Glu66=
|
3.0 |
|
B | ||
| 23844 | chr6 | 152721828 | CGAA | C |
c.292_294del
|
p.Arg98del
|
3.0 |
|
B | ||
| 35013 | chr6 | 152721835 | G | A |
c.290G>A
|
p.Arg97Lys
|
3.0 |
|
B | ||
| 34204 | chr6 | 152721849 | C | A |
c.304C>A
|
p.Pro102Thr
|
- | 3.0 |
|
B | |
| 13424 | chr6 | 152721924 | C | T |
c.379C>T
|
p.Arg127Cys
|
3.0 |
|
B | ||
| 19309 | chr6 | 152722218 | T | C |
c.673T>C
|
p.Tyr225His
|
- | 3.0 |
|
B | |
| 29055 | chr6 | 152722745 | T | C |
c.*492T>C
|
-
|
- | 3.0 |
|
B | |
| 3532 | chr6 | 154833265 | C | T |
c.3686C>T
|
p.Pro1229Leu
|
3.0 |
|
B | ||
| 19869 | chr6 | 156777860 | C | G |
c.180C>G
|
p.Gly60=
|
- | 3.0 |
|
B | |
| 6216 | chr6 | 156778149 | G | A |
c.469G>A
|
p.Glu157Lys
|
3.0 |
|
B | ||
| 6631 | chr6 | 156778178 | GCACCACCACCACCACCATGCC | G |
c.527_547del
|
p.His176_His182del
|
2.0 |
|
B | ||
| 19476 | chr6 | 156778268 | C | CCAG |
c.609_611dup
|
p.Gln214dup
|
2.0 |
|
B | ||
| 20008 | chr6 | 156778268 | CCAG | C |
c.609_611del
|
p.Gln214del
|
2.0 |
|
B | ||
| 35094 | chr6 | 156778268 | CCAGCAGCAGCAGCAGCAGCAGCAACAG | C |
c.609_635del
|
p.Gln206_Gln214del
|
2.0 |
|
B | ||
| 6536 | chr6 | 156778292 | ACAGCAG | A |
c.630_635del
|
p.Gln213_Gln214del
|
2.0 |
|
B | ||
| 16189 | chr6 | 156778420 | A | C |
c.740A>C
|
p.Asp247Ala
|
2.5 |
|
B | ||
| 19194 | chr6 | 156778469 | C | G |
c.789C>G
|
p.Ser263Arg
|
- | 3.0 |
|
B | |
| 10877 | chr6 | 156778566 | C | CAGCCCG |
c.886_887insAGCCCG
|
p.Pro296delinsGlnProAla
|
- | 3.5 |
|
B | |
| 1633 | chr6 | 156778733 | C | T |
c.1053C>T
|
p.Ser351=
|
3.0 |
|
B |