Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24550 | chr5 | 177093210 | C | T |
c.1130C>T
|
p.Ser377Phe
|
3.0 |
|
B | ||
| 4204 | chr5 | 177093455 | G | A |
c.1301G>A
|
p.Arg434Gln
|
3.0 |
|
B | ||
| 19936 | chr5 | 177093459 | C | T |
c.1305C>T
|
p.Gly435=
|
3.0 |
|
B | ||
| 14736 | chr5 | 177093650 | C | T |
c.1398-4C>T
|
-
|
- | 3.0 |
|
B | |
| 17669 | chr5 | 177093707 | C | T |
c.1451C>T
|
p.Ala484Val
|
- | 3.0 |
|
B | |
| 8864 | chr5 | 177095330 | A | G |
c.1520A>G
|
p.Asp507Gly
|
- | 3.0 |
|
B | |
| 469 | chr5 | 177095550 | G | A |
c.1648G>A
|
p.Val550Met
|
4.0 |
|
B | ||
| 15512 | chr5 | 177095550 | G | C |
c.1648G>C
|
p.Val550Leu
|
- | 4.0 |
|
B | |
| 14599 | chr5 | 177095550 | G | T |
c.1648G>T
|
p.Val550Leu
|
- | 4.0 |
|
B | |
| 23045 | chr5 | 177095595 | C | CTGGGG |
c.1693_1694insTGGGG
|
p.Arg565LeufsTer58
|
- | 3.0 |
|
B | |
| 18297 | chr5 | 177095631 | C | T |
c.1729C>T
|
p.Pro577Ser
|
- | 3.0 |
|
B | |
| 10974 | chr5 | 177095727 | C | T |
c.1821+4C>T
|
-
|
1.0 |
|
B | ||
| 10888 | chr5 | 177096066 | C | T |
c.1831C>T
|
p.Arg611Trp
|
3.0 |
|
B | ||
| 16726 | chr5 | 177096586 | C | T |
c.2016-18C>T
|
-
|
3.0 |
|
B | ||
| 34408 | chr5 | 177096590 | G | T |
c.2016-14G>T
|
-
|
- | 3.0 |
|
B | |
| 10975 | chr5 | 177096596 | A | G |
c.2016-8A>G
|
-
|
1.0 |
|
B | ||
| 12071 | chr5 | 177096617 | A | G |
c.2029A>G
|
p.Ile677Val
|
- | 3.0 |
|
B | |
| 28210 | chr5 | 177097414 | C | T |
c.2259+17C>T
|
-
|
- | 3.0 |
|
B | |
| 17005 | chr5 | 177097516 | G | T |
c.2260-11G>T
|
-
|
- | 3.0 |
|
B | |
| 21756 | chr5 | 177097561 | C | T |
c.2294C>T
|
p.Ser765Phe
|
3.0 |
|
B |