Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2391 | chr7 | 152162697 | G | C |
c.10880C>G
|
p.Ser3627Ter
|
- | 4.0 |
|
B | |
| 4215 | chr7 | 152162823 | G | A |
c.10754C>T
|
p.Ser3585Leu
|
3.0 |
|
B | ||
| 17303 | chr7 | 152163015 | G | A |
c.10562C>T
|
p.Ser3521Leu
|
- | 3.5 |
|
B | |
| 10483 | chr7 | 152163045 | C | G |
c.10532G>C
|
p.Gly3511Ala
|
- | 3.0 |
|
B | |
| 9530 | chr7 | 152163070 | G | A |
c.10507C>T
|
p.Gln3503Ter
|
- | 4.0 |
|
B | |
| 5702 | chr7 | 152163363 | C | A |
c.10214G>T
|
p.Arg3405Leu
|
- | 4.0 |
|
B | |
| 25374 | chr7 | 152163439 | G | A |
c.10138C>T
|
p.Pro3380Ser
|
- | 3.0 |
|
B | |
| 13812 | chr7 | 152163489 | C | T |
c.10088G>A
|
p.Cys3363Tyr
|
- | 3.0 |
|
B | |
| 21935 | chr7 | 152163625 | T | C |
c.9952A>G
|
p.Thr3318Ala
|
3.0 |
|
B | ||
| 35142 | chr7 | 152167253 | T | C |
c.9643A>G
|
p.Lys3215Glu
|
- | 3.0 |
|
B | |
| 29793 | chr7 | 152167347 | C | T |
c.9549G>A
|
p.Trp3183Ter
|
- | 4.0 |
|
B | |
| 10695 | chr7 | 152167366 | C | T |
c.9530G>A
|
p.Arg3177His
|
3.0 |
|
B | ||
| 23764 | chr7 | 152167384 | G | A |
c.9518-6C>T
|
-
|
3.0 |
|
B | ||
| 4976 | chr7 | 152171263 | C | T |
c.9453+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 2361 | chr7 | 152174126 | C | A |
c.9374+5G>T
|
-
|
- | 3.0 |
|
B | |
| 8024 | chr7 | 152174203 | AT | A |
c.9301del
|
p.Met3101TrpfsTer7
|
- | 4.0 |
|
B | |
| 24204 | chr7 | 152174225 | C | T |
c.9280G>A
|
p.Asp3094Asn
|
- | 3.0 |
|
B | |
| 22336 | chr7 | 152176326 | C | T |
c.9127G>A
|
p.Glu3043Lys
|
- | 3.0 |
|
B | |
| 20866 | chr7 | 152176432 | T | TC |
c.9020dup
|
p.Pro3009ThrfsTer16
|
- | 4.0 |
|
B | |
| 29704 | chr7 | 152176582 | G | C |
c.8871C>G
|
p.Phe2957Leu
|
- | 3.5 |
|
B |