Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11353 | chr5 | 251446 | C | T |
c.1772C>T
|
p.Ala591Val
|
3.0 |
|
B | ||
| 25308 | chr5 | 251449 | A | G |
c.1775A>G
|
p.His592Arg
|
3.0 |
|
B | ||
| 34954 | chr5 | 256319 | ACT | A |
c.1909-12_1909-11del
|
-
|
2.0 |
|
B | ||
| 3631 | chr5 | 483268 | C | G |
c.1147G>C
|
p.Ala383Pro
|
- | 3.0 |
|
B | |
| 2615 | chr5 | 1216691 | G | A |
c.1016+5G>A
|
-
|
3.0 |
|
B | ||
| 28053 | chr5 | 1253835 | C | T |
c.3296-4G>A
|
-
|
2.0 |
|
B | ||
| 1518 | chr5 | 1254413 | G | A |
c.3250C>T
|
p.Arg1084Ter
|
3.0 |
|
B | ||
| 26564 | chr5 | 1254443 | A | C |
c.3220T>G
|
p.Cys1074Gly
|
3.0 |
|
B | ||
| 2909 | chr5 | 1254462 | G | A |
c.3201C>T
|
p.Ser1067=
|
2.0 |
|
B | ||
| 10785 | chr5 | 1254463 | G | A |
c.3200C>T
|
p.Ser1067Phe
|
- | 3.0 |
|
B | |
| 1519 | chr5 | 1255334 | G | A |
c.3110C>T
|
p.Ser1037Phe
|
- | 3.0 |
|
B | |
| 4971 | chr5 | 1255380 | G | A |
c.3064C>T
|
p.His1022Tyr
|
- | 3.0 |
|
B | |
| 9738 | chr5 | 1260517 | C | A |
c.2927G>T
|
p.Gly976Val
|
- | 3.0 |
|
B | |
| 29847 | chr5 | 1260530 | G | A |
c.2914C>T
|
p.Arg972Cys
|
3.0 |
|
B | ||
| 17917 | chr5 | 1260592 | C | T |
c.2852G>A
|
p.Arg951Gln
|
2.5 |
|
B | ||
| 33645 | chr5 | 1264407 | G | A |
c.2840C>T
|
p.Ser947Phe
|
- | 3.0 |
|
B | |
| 16954 | chr5 | 1264471 | C | T |
c.2776G>A
|
p.Gly926Ser
|
3.0 |
|
B | ||
| 29997 | chr5 | 1264503 | C | T |
c.2744G>A
|
p.Gly915Asp
|
2.5 |
|
B | ||
| 8000 | chr5 | 1266456 | G | A |
c.2654+8C>T
|
-
|
- | 3.0 |
|
B | |
| 9357 | chr5 | 1266525 | G | A |
c.2593C>T
|
p.Arg865Cys
|
4.0 |
|
B |