Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34443 | chr1 | 226071412 | C | G |
c.344C>G
|
p.Ala115Gly
|
2.5 |
|
B | ||
| 14083 | chr1 | 226361956 | C | G |
c.2963+13G>C
|
-
|
- | 3.0 |
|
B | |
| 6985 | chr1 | 226363110 | T | A |
c.2837A>T
|
p.His946Leu
|
- | 3.0 |
|
B | |
| 22251 | chr1 | 226363992 | C | T |
c.2737G>A
|
p.Gly913Arg
|
3.0 |
|
B | ||
| 26899 | chr1 | 226366002 | C | G |
c.2457G>C
|
p.Lys819Asn
|
3.0 |
|
B | ||
| 8140 | chr1 | 226368236 | T | A |
c.2240A>T
|
p.Lys747Met
|
- | 3.0 |
|
B | |
| 18646 | chr1 | 226370489 | T | G |
c.2099A>C
|
p.Lys700Thr
|
- | 3.0 |
|
B | |
| 3014 | chr1 | 226377268 | G | A |
c.1781C>T
|
p.Thr594Met
|
3.0 |
|
B | ||
| 6558 | chr1 | 226379915 | C | G |
c.1543+7G>C
|
-
|
- | 3.0 |
|
B | |
| 18541 | chr1 | 226380111 | G | A |
c.1354C>T
|
p.Arg452Ter
|
3.5 |
|
B | ||
| 461 | chr1 | 226381068 | T | C |
c.1300A>G
|
p.Lys434Glu
|
3.0 |
|
S | ||
| 10370 | chr1 | 226383066 | G | A |
c.1129C>T
|
p.Pro377Ser
|
2.0 |
|
B | ||
| 4992 | chr1 | 226383104 | G | A |
c.1091C>T
|
p.Ser364Phe
|
- | 3.0 |
|
B | |
| 4457 | chr1 | 226383174 | C | T |
c.1021G>A
|
p.Glu341Lys
|
- | 3.0 |
|
B | |
| 29683 | chr1 | 226385581 | T | C |
c.934A>G
|
p.Thr312Ala
|
- | 3.0 |
|
B | |
| 25791 | chr1 | 226386318 | C | T |
c.834+8G>A
|
-
|
- | 3.0 |
|
B | |
| 686 | chr1 | 226386422 | C | G |
c.738G>C
|
p.Trp246Cys
|
- | 3.0 |
|
B | |
| 11405 | chr1 | 226388751 | T | C |
c.622A>G
|
p.Arg208Gly
|
- | 3.0 |
|
B | |
| 25486 | chr1 | 226392290 | C | A |
c.311G>T
|
p.Ser104Ile
|
3.0 |
|
B | ||
| 4812 | chr1 | 228212652 | C | T |
c.869C>T
|
p.Ala290Val
|
- | 3.0 |
|
B |