Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7111 | chr7 | 45610459 | T | G |
c.870T>G
|
p.Ile290Met
|
- | 3.0 |
|
B | |
| 18107 | chr7 | 45610463 | C | T |
c.874C>T
|
p.His292Tyr
|
3.0 |
|
B | ||
| 6497 | chr7 | 45622651 | G | A |
c.928G>A
|
p.Val310Met
|
- | 3.0 |
|
B | |
| 17670 | chr7 | 45622663 | G | T |
c.940G>T
|
p.Gly314Cys
|
- | 3.0 |
|
B | |
| 23479 | chr7 | 45622677 | G | C |
c.954G>C
|
p.Gln318His
|
3.0 |
|
B | ||
| 5936 | chr7 | 45622729 | G | A |
c.1006G>A
|
p.Asp336Asn
|
3.0 |
|
B | ||
| 21086 | chr7 | 45648797 | C | T |
c.1148C>T
|
p.Thr383Ile
|
3.0 |
|
B | ||
| 17785 | chr7 | 45657785 | A | G |
c.1207A>G
|
p.Arg403Gly
|
- | 3.0 |
|
B | |
| 21226 | chr7 | 45657819 | G | A |
c.1241G>A
|
p.Trp414Ter
|
- | 3.0 |
|
B | |
| 504 | chr7 | 45657848 | A | G |
c.1270A>G
|
p.Thr424Ala
|
- | 3.0 |
|
B | |
| 18108 | chr7 | 45660032 | C | T |
c.1308-10C>T
|
-
|
- | 3.0 |
|
B | |
| 20453 | chr7 | 45660064 | A | T |
c.1330A>T
|
p.Thr444Ser
|
- | 3.0 |
|
B | |
| 5389 | chr7 | 45660109 | G | A |
c.1375G>A
|
p.Gly459Arg
|
3.0 |
|
B | ||
| 16425 | chr7 | 45660119 | G | A |
c.1385G>A
|
p.Arg462Lys
|
- | 3.0 |
|
B | |
| 14380 | chr7 | 45662060 | T | G |
c.1451T>G
|
p.Ile484Arg
|
- | 3.0 |
|
B | |
| 21817 | chr7 | 45662112 | C | G |
c.1503C>G
|
p.Phe501Leu
|
- | 3.0 |
|
B | |
| 28248 | chr7 | 45662128 | C | A |
c.1519C>A
|
p.Leu507Met
|
3.0 |
|
B | ||
| 13267 | chr7 | 45662229 | G | A |
c.1605+15G>A
|
-
|
3.0 |
|
B | ||
| 33558 | chr7 | 45664278 | C | T |
c.1605+2064C>T
|
-
|
3.0 |
|
B | ||
| 2912 | chr7 | 45664362 | G | A |
c.1605+2148G>A
|
-
|
3.0 |
|
B |