Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21944 | chr7 | 92042131 | T | C |
c.5003T>C
|
p.Leu1668Ser
|
- | 3.0 |
|
B | |
| 5680 | chr7 | 92042696 | A | C |
c.5087A>C
|
p.Glu1696Ala
|
- | 3.0 |
|
B | |
| 12457 | chr7 | 92044988 | G | A |
c.5163-20G>A
|
-
|
1.0 |
|
B | ||
| 808 | chr7 | 92045108 | G | C |
c.5263G>C
|
p.Gly1755Arg
|
- | 3.0 |
|
B | |
| 18581 | chr7 | 92058215 | C | T |
c.5602-3045C>T
|
-
|
3.0 |
|
B | ||
| 12337 | chr7 | 92058341 | A | G |
c.5602-2919A>G
|
-
|
- | 3.0 |
|
B | |
| 3147 | chr7 | 92065263 | G | C |
c.6010G>C
|
p.Glu2004Gln
|
- | 3.0 |
|
B | |
| 26113 | chr7 | 92065374 | G | A |
c.6121G>A
|
p.Glu2041Lys
|
- | 3.0 |
|
B | |
| 17494 | chr7 | 92065436 | G | T |
c.6183G>T
|
p.Gln2061His
|
- | 3.0 |
|
B | |
| 9199 | chr7 | 92066451 | G | A |
c.6235G>A
|
p.Glu2079Lys
|
- | 3.0 |
|
B | |
| 18114 | chr7 | 92070027 | C | T |
c.6331-3C>T
|
-
|
- | 3.0 |
|
B | |
| 34902 | chr7 | 92070091 | C | T |
c.6392C>T
|
p.Ser2131Phe
|
- | 3.0 |
|
B | |
| 17520 | chr7 | 92076853 | A | T |
c.6613-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 24474 | chr7 | 92076856 | T | G |
c.6614T>G
|
p.Ile2205Ser
|
- | 3.0 |
|
B | |
| 24475 | chr7 | 92076857 | T | A |
c.6615T>A
|
p.Ile2205=
|
- | 3.0 |
|
B | |
| 14522 | chr7 | 92077835 | C | T |
c.6905C>T
|
p.Thr2302Met
|
2.5 |
|
B | ||
| 923 | chr7 | 92079271 | G | A |
c.7138G>A
|
p.Glu2380Lys
|
- | 3.0 |
|
B | |
| 6878 | chr7 | 92079298 | G | C |
c.7165G>C
|
p.Asp2389His
|
- | 3.0 |
|
B | |
| 6691 | chr7 | 92079490 | G | A |
c.7357G>A
|
p.Val2453Met
|
3.0 |
|
B | ||
| 23945 | chr7 | 92079796 | C | A |
c.7663C>A
|
p.Leu2555Ile
|
3.0 |
|
B |