Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20708 | chr1 | 237617298 | C | A |
c.5728C>A
|
p.Leu1910Ile
|
- | 3.0 |
|
B | |
| 33385 | chr1 | 237617326 | G | A |
c.5756G>A
|
p.Arg1919Gln
|
2.5 |
|
B | ||
| 28625 | chr1 | 237623826 | G | A |
c.5978G>A
|
p.Arg1993His
|
3.0 |
|
B | ||
| 20655 | chr1 | 237625713 | T | G |
c.6075T>G
|
p.Ile2025Met
|
- | 3.0 |
|
B | |
| 23426 | chr1 | 237625769 | C | A |
c.6131C>A
|
p.Ala2044Glu
|
- | 3.0 |
|
B | |
| 35285 | chr1 | 237627843 | G | A |
c.6203G>A
|
p.Arg2068Gln
|
3.0 |
|
B | ||
| 24438 | chr1 | 237627935 | G | T |
c.6295G>T
|
p.Val2099Phe
|
- | 3.0 |
|
B | |
| 25984 | chr1 | 237627968 | G | T |
c.6328G>T
|
p.Gly2110Cys
|
- | 3.0 |
|
B | |
| 16569 | chr1 | 237628070 | C | T |
c.6430C>T
|
p.Arg2144Cys
|
2.5 |
|
B | ||
| 18435 | chr1 | 237628099 | A | G |
c.6440+19A>G
|
-
|
- | 3.0 |
|
B | |
| 22825 | chr1 | 237631411 | C | T |
c.6441-16C>T
|
-
|
- | 3.0 |
|
B | |
| 14436 | chr1 | 237631441 | A | C |
c.6455A>C
|
p.Asn2152Thr
|
- | 3.0 |
|
B | |
| 8291 | chr1 | 237631535 | G | T |
c.6549G>T
|
p.Glu2183Asp
|
- | 3.0 |
|
B | |
| 35188 | chr1 | 237633644 | A | T |
c.6622A>T
|
p.Arg2208Trp
|
- | 3.0 |
|
B | |
| 16682 | chr1 | 237633664 | G | A |
c.6642G>A
|
p.Met2214Ile
|
- | 3.0 |
|
B | |
| 32258 | chr1 | 237634972 | C | T |
c.6772C>T
|
p.Arg2258Cys
|
3.0 |
|
B | ||
| 17756 | chr1 | 237638999 | C | T |
c.6929-16C>T
|
-
|
- | 2.0 |
|
B | |
| 25145 | chr1 | 237639000 | C | T |
c.6929-15C>T
|
-
|
3.0 |
|
B | ||
| 14239 | chr1 | 237639001 | C | G |
c.6929-14C>G
|
-
|
- | 3.0 |
|
B | |
| 22151 | chr1 | 237640947 | T | G |
c.7166T>G
|
p.Met2389Arg
|
- | 3.0 |
|
B |