Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8039 | chr1 | 11108281 | C | A |
c.7534G>T
|
p.Asp2512Tyr
|
- | 3.0 |
|
B | |
| 9087 | chr1 | 11109297 | C | G |
c.7521G>C
|
p.Lys2507Asn
|
- | 3.0 |
|
B | |
| 31651 | chr1 | 11109305 | G | A |
c.7513C>T
|
p.Arg2505Ter
|
- | 3.0 |
|
B | |
| 15884 | chr1 | 11109317 | T | A |
c.7501A>T
|
p.Ile2501Phe
|
3.5 |
|
B | ||
| 25245 | chr1 | 11109320 | T | A |
c.7498A>T
|
p.Ile2500Phe
|
4.0 |
|
B | ||
| 29280 | chr1 | 11109338 | T | G |
c.7480A>C
|
p.Asn2494His
|
- | 3.0 |
|
B | |
| 26898 | chr1 | 11114338 | A | T |
c.7280T>A
|
p.Leu2427Gln
|
4.0 |
|
B | ||
| 11439 | chr1 | 11114359 | G | A |
c.7259C>T
|
p.Ala2420Val
|
- | 3.0 |
|
B | |
| 16663 | chr1 | 11114453 | C | T |
c.7165G>A
|
p.Val2389Ile
|
- | 3.0 |
|
B | |
| 7777 | chr1 | 11114456 | A | G |
c.7165-3T>C
|
-
|
- | 3.0 |
|
B | |
| 22816 | chr1 | 11114815 | C | T |
c.7162G>A
|
p.Glu2388Lys
|
- | 3.0 |
|
B | |
| 17994 | chr1 | 11117055 | C | T |
c.6965G>A
|
p.Arg2322His
|
2.0 |
|
B | ||
| 5568 | chr1 | 11117077 | C | T |
c.6943G>A
|
p.Asp2315Asn
|
- | 3.0 |
|
B | |
| 35669 | chr1 | 11122067 | G | T |
c.6722C>A
|
p.Pro2241His
|
- | 3.0 |
|
B | |
| 26539 | chr1 | 11122121 | T | C |
c.6668A>G
|
p.Gln2223Arg
|
- | 3.5 |
|
B | |
| 24875 | chr1 | 11124513 | A | G |
c.6647T>C
|
p.Leu2216Pro
|
- | 3.5 |
|
B | |
| 12461 | chr1 | 11124516 | G | A |
c.6644C>T
|
p.Ser2215Phe
|
4.5 |
|
B | ||
| 6453 | chr1 | 11124619 | C | T |
c.6541G>A
|
p.Glu2181Lys
|
3.0 |
|
B | ||
| 34321 | chr1 | 11124641 | G | A |
c.6527-8C>T
|
-
|
2.0 |
|
B | ||
| 4921 | chr1 | 11126778 | G | A |
c.6370C>T
|
p.Gln2124Ter
|
- | 3.0 |
|
B |