Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21118 | chr7 | 41977565 | G | A |
c.1805C>T
|
p.Ser602Phe
|
- | 3.0 |
|
B | |
| 12909 | chr7 | 41977697 | G | A |
c.1673C>T
|
p.Ser558Leu
|
3.0 |
|
B | ||
| 6103 | chr7 | 41977719 | C | A |
c.1651G>T
|
p.Glu551Ter
|
- | 3.0 |
|
B | |
| 3248 | chr7 | 41977726 | A | T |
c.1648-4T>A
|
-
|
- | 3.0 |
|
B | |
| 35112 | chr7 | 41978735 | T | C |
c.1511A>G
|
p.Asp504Gly
|
- | 3.0 |
|
B | |
| 2359 | chr7 | 42023601 | G | A |
c.1364C>T
|
p.Pro455Leu
|
- | 3.0 |
|
B | |
| 15579 | chr7 | 42026203 | G | T |
c.1238C>A
|
p.Ser413Ter
|
- | 3.0 |
|
B | |
| 6416 | chr7 | 42026234 | C | T |
c.1207G>A
|
p.Val403Ile
|
2.0 |
|
B | ||
| 14721 | chr7 | 42026236 | G | A |
c.1205C>T
|
p.Pro402Leu
|
- | 3.0 |
|
B | |
| 9334 | chr7 | 42026237 | G | T |
c.1204C>A
|
p.Pro402Thr
|
- | 3.0 |
|
B | |
| 9234 | chr7 | 42026248 | G | A |
c.1193C>T
|
p.Thr398Met
|
3.0 |
|
B | ||
| 6926 | chr7 | 42026344 | C | T |
c.1097G>A
|
p.Arg366Gln
|
3.0 |
|
B | ||
| 3258 | chr7 | 42026345 | G | A |
c.1096C>T
|
p.Arg366Ter
|
3.0 |
|
B | ||
| 4173 | chr7 | 42026418 | C | A |
c.1029-6G>T
|
-
|
2.5 |
|
B | ||
| 8550 | chr7 | 42040092 | C | T |
c.974G>A
|
p.Arg325His
|
3.0 |
|
B | ||
| 19195 | chr7 | 42040259 | G | C |
c.827-20C>G
|
-
|
- | 3.0 |
|
B | |
| 21311 | chr7 | 42045389 | AT | A |
c.820del
|
p.Met274TrpfsTer36
|
- | 3.0 |
|
B | |
| 30126 | chr7 | 42045528 | G | A |
c.682C>T
|
p.Pro228Ser
|
3.0 |
|
B | ||
| 32519 | chr7 | 42048476 | C | A |
c.679+15G>T
|
-
|
3.0 |
|
B | ||
| 17099 | chr7 | 42048511 | C | T |
c.659G>A
|
p.Arg220His
|
2.0 |
|
B |