Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31068 | chr7 | 106886292 | G | C |
c.3030G>C
|
p.Gln1010His
|
- | 3.0 |
|
B | |
| 21189 | chr7 | 106905172 | T | G |
c.3094T>G
|
p.Ser1032Ala
|
- | 3.0 |
|
B | |
| 4686 | chr7 | 107575285 | G | A |
c.454G>A
-
|
p.Gly152Arg
-
|
- | 3.0 |
|
B | |
| 31470 | chr7 | 107661865 | G | A |
c.164+60G>A
|
-
|
- | 3.0 |
|
B | |
| 27988 | chr7 | 107765890 | CAG | C |
c.2272-14_2272-13del
-
|
-
-
|
2.0 |
|
B | ||
| 13970 | chr7 | 107767595 | C | T |
c.2255G>A
|
p.Arg752His
|
3.0 |
|
B | ||
| 2902 | chr7 | 107767596 | G | A |
c.2254C>T
|
p.Arg752Cys
|
3.0 |
|
B | ||
| 1663 | chr7 | 107767610 | G | C |
c.2240C>G
|
p.Thr747Arg
|
3.0 |
|
B | ||
| 5822 | chr7 | 107767882 | A | G |
c.2089T>C
|
p.Tyr697His
|
- | 3.0 |
|
B | |
| 16752 | chr7 | 107778229 | C | T |
c.1460G>A
|
p.Gly487Asp
|
- | 3.0 |
|
B | |
| 31945 | chr7 | 107779688 | G | A |
c.1387C>T
|
p.Arg463Ter
|
3.0 |
|
B | ||
| 3885 | chr7 | 107779733 | A | T |
c.1342T>A
|
p.Leu448Ile
|
- | 3.0 |
|
B | |
| 23754 | chr7 | 107782817 | G | A |
c.1291C>T
|
p.Leu431Phe
|
- | 3.0 |
|
B | |
| 12175 | chr7 | 107783045 | C | T |
c.1168G>A
|
p.Gly390Arg
|
- | 3.0 |
|
B | |
| 26962 | chr7 | 107783093 | C | T |
c.1120G>A
|
p.Glu374Lys
|
- | 3.0 |
|
B | |
| 10257 | chr7 | 107783228 | C | T |
c.1096G>A
|
p.Asp366Asn
|
3.0 |
|
B | ||
| 29321 | chr7 | 107783243 | A | T |
c.1081T>A
|
p.Tyr361Asn
|
- | 3.0 |
|
B | |
| 24416 | chr7 | 107783353 | C | G |
c.972-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 24328 | chr7 | 107783369 | G | A |
c.972-17C>T
|
-
|
- | 3.0 |
|
B | |
| 23054 | chr7 | 107786830 | G | T |
c.968C>A
|
p.Pro323His
|
- | 3.0 |
|
B |