Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20874 | chr7 | 20699823 | A | G |
c.2155-2A>G
|
p.?
|
3.0 |
|
B | ||
| 5737 | chr7 | 20699825 | A | G |
c.2155A>G
|
p.Met719Val
|
3.0 |
|
B | ||
| 13217 | chr7 | 20700133 | C | T |
c.2335C>T
|
p.Gln779Ter
|
- | 3.0 |
|
B | |
| 18858 | chr7 | 20704794 | C | G |
c.2408C>G
|
p.Ala803Gly
|
- | 3.0 |
|
B | |
| 18105 | chr7 | 20704805 | G | A |
c.2419G>A
|
p.Gly807Arg
|
- | 3.0 |
|
B | |
| 25668 | chr7 | 20723018 | A | G |
c.2424A>G
|
p.Ala808=
|
- | 3.0 |
|
B | |
| 34733 | chr7 | 20723071 | C | T |
c.2477C>T
|
p.Ser826Leu
|
- | 3.0 |
|
B | |
| 11387 | chr7 | 20728440 | C | T |
c.2852C>T
|
p.Pro951Leu
|
- | 3.0 |
|
B | |
| 27252 | chr7 | 20728466 | G | A |
c.2867+11G>A
|
-
|
- | 3.0 |
|
B | |
| 34592 | chr7 | 20742869 | T | C |
c.3025-8T>C
|
-
|
- | 3.0 |
|
B | |
| 34065 | chr7 | 20742953 | G | C |
c.3101G>C
|
p.Arg1034Pro
|
- | 3.0 |
|
B | |
| 14300 | chr7 | 20742988 | G | T |
c.3136G>T
|
p.Val1046Leu
|
- | 3.0 |
|
B | |
| 27378 | chr7 | 20745273 | G | T |
c.3264G>T
|
p.Trp1088Cys
|
- | 3.0 |
|
B | |
| 16594 | chr7 | 20745443 | G | A |
c.3429+5G>A
|
-
|
- | 3.0 |
|
B | |
| 32458 | chr7 | 20755418 | C | T |
c.3577-9C>T
|
-
|
- | 3.0 |
|
B | |
| 19311 | chr7 | 20755425 | A | T |
c.3577-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 32731 | chr7 | 20755536 | G | A |
c.3686G>A
|
p.Gly1229Glu
|
- | 3.0 |
|
B | |
| 14197 | chr7 | 20755580 | C | T |
c.3730C>T
|
p.Arg1244Ter
|
3.0 |
|
B | ||
| 30184 | chr7 | 20755581 | G | A |
c.3731G>A
|
p.Arg1244Gln
|
3.0 |
|
B | ||
| 3652 | chr7 | 20785365 | A | T |
c.452T>A
|
p.Val151Asp
|
- | 3.0 |
|
B |