Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2794 | chr7 | 152138831 | T | TG |
c.14607dup
|
p.Ile4870HisfsTer16
|
- | 4.0 |
|
B | |
| 35169 | chr7 | 152139207 | G | A |
c.14513C>T
|
p.Thr4838Met
|
3.0 |
|
B | ||
| 25185 | chr7 | 152139761 | C | A |
c.14374G>T
|
p.Glu4792Ter
|
- | 4.0 |
|
B | |
| 22887 | chr7 | 152145207 | C | T |
c.14120G>A
|
p.Gly4707Asp
|
- | 3.0 |
|
B | |
| 11822 | chr7 | 152145213 | G | A |
c.14114C>T
|
p.Pro4705Leu
|
3.0 |
|
B | ||
| 8733 | chr7 | 152145229 | G | A |
c.14098C>T
|
p.Pro4700Ser
|
3.0 |
|
B | ||
| 9219 | chr7 | 152145250 | G | A |
c.14077C>T
|
p.Arg4693Ter
|
- | 4.0 |
|
B | |
| 8078 | chr7 | 152145253 | C | T |
c.14074G>A
|
p.Gly4692Ser
|
3.0 |
|
B | ||
| 26470 | chr7 | 152145258 | C | T |
c.14069G>A
|
p.Arg4690Gln
|
3.0 |
|
B | ||
| 3240 | chr7 | 152145290 | AG | A |
c.14036del
|
p.Pro4679LeufsTer37
|
- | 4.0 |
|
B | |
| 14039 | chr7 | 152145312 | C | T |
c.14032-17G>A
|
-
|
1.5 |
|
B | ||
| 9902 | chr7 | 152146646 | C | A |
c.13984G>T
|
p.Asp4662Tyr
|
3.0 |
|
B | ||
| 536 | chr7 | 152148240 | G | A |
c.13687C>T
|
p.Pro4563Ser
|
- | 3.0 |
|
B | |
| 11371 | chr7 | 152148329 | C | T |
c.13598G>A
|
p.Arg4533Gln
|
3.0 |
|
B | ||
| 24648 | chr7 | 152148330 | G | A |
c.13597C>T
|
p.Arg4533Ter
|
- | 4.5 |
|
B | |
| 4936 | chr7 | 152148728 | C | T |
c.13199G>A
|
p.Arg4400Gln
|
3.0 |
|
B | ||
| 31544 | chr7 | 152148729 | G | A |
c.13198C>T
|
p.Arg4400Trp
|
3.0 |
|
B | ||
| 1260 | chr7 | 152148761 | G | A |
c.13166C>T
|
p.Ser4389Phe
|
- | 3.0 |
|
B | |
| 11372 | chr7 | 152148917 | G | A |
c.13010C>T
|
p.Ala4337Val
|
3.0 |
|
B | ||
| 26404 | chr7 | 152150933 | TGAA | T |
c.12738_12740del
|
p.Tyr4246_Ser4247delinsTer
|
- | 4.0 |
|
B |