Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32483 | chr1 | 58782628 | G | GA |
c.442_443insT
|
p.Ala148ValfsTer162
|
- | 3.0 |
|
B | |
| 32484 | chr1 | 58782629 | C | T |
c.442G>A
|
p.Ala148Thr
|
3.0 |
|
B | ||
| 8025 | chr1 | 58782737 | C | T |
c.334G>A
|
p.Glu112Lys
|
3.0 |
|
B | ||
| 5486 | chr1 | 58782916 | TGCGGCTTCAGGCTCCCCACTGGGTCGGC | T |
c.127_154del
|
p.Ala43ThrfsTer28
|
- | 3.0 |
|
B | |
| 17654 | chr1 | 58783005 | C | G |
c.66G>C
|
p.Glu22Asp
|
- | 3.0 |
|
B | |
| 34499 | chr1 | 59821848 | G | A |
c.64-10G>A
|
-
|
- | 3.0 |
|
B | |
| 10443 | chr1 | 61077550 | CA | C |
-
|
-
|
3.0 |
|
B | ||
| 3278 | chr1 | 62148326 | G | A |
c.5314G>A
|
p.Glu1772Lys
|
- | 3.0 |
|
B | |
| 14576 | chr1 | 64049683 | GCTCACAGATT | G |
c.164-5_168del
|
p.?
|
- | 3.0 |
|
B | |
| 22490 | chr1 | 64049738 | C | G |
c.211C>G
|
p.Leu71Val
|
3.0 |
|
B | ||
| 30770 | chr1 | 64049850 | G | T |
c.323G>T
|
p.Arg108Leu
|
- | 3.0 |
|
B | |
| 9602 | chr1 | 64142459 | C | G |
c.983C>G
|
p.Thr328Ser
|
3.0 |
|
B | ||
| 18433 | chr1 | 64159037 | A | C |
c.1231A>C
|
p.Ser411Arg
|
- | 3.0 |
|
B | |
| 24940 | chr1 | 64159058 | A | T |
c.1252A>T
|
p.Ile418Phe
|
- | 3.0 |
|
B | |
| 21943 | chr1 | 64177515 | C | T |
c.1474C>T
|
p.Leu492Phe
|
3.0 |
|
B | ||
| 27847 | chr1 | 64177809 | G | A |
c.1768G>A
|
p.Gly590Arg
|
3.0 |
|
B | ||
| 26991 | chr1 | 64177902 | A | G |
c.1861A>G
|
p.Ile621Val
|
- | 3.0 |
|
B | |
| 30351 | chr1 | 64178163 | C | T |
c.2122C>T
|
p.Arg708Trp
|
3.0 |
|
B | ||
| 22150 | chr1 | 64178311 | G | A |
c.2270G>A
|
p.Ser757Asn
|
- | 3.0 |
|
B | |
| 15886 | chr1 | 64178415 | C | T |
c.2374C>T
|
p.Pro792Ser
|
- | 3.0 |
|
B |