Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29530 | chr17 | 5308690 | C | T |
c.35-4C>T
|
-
|
3.0 |
|
B | ||
| 20688 | chr17 | 5331976 | T | C |
c.191T>C
|
p.Leu64Ser
|
- | 3.0 |
|
B | |
| 34078 | chr17 | 5332033 | C | T |
c.248C>T
|
p.Ala83Val
|
- | 3.0 |
|
B | |
| 26731 | chr17 | 5332161 | A | G |
c.367+9A>G
|
-
|
2.0 |
|
B | ||
| 25350 | chr17 | 5335333 | G | T |
c.517G>T
|
p.Glu173Ter
|
- | 3.0 |
|
B | |
| 24623 | chr17 | 5338026 | A | G |
c.536A>G
|
p.Glu179Gly
|
- | 3.0 |
|
B | |
| 20411 | chr17 | 5350432 | TG | T |
c.785-12del
|
-
|
3.0 |
|
B | ||
| 34215 | chr17 | 5354404 | A | G |
c.1009A>G
|
p.Lys337Glu
|
- | 3.0 |
|
B | |
| 34923 | chr17 | 5361205 | C | G |
c.1096-3C>G
|
-
|
- | 3.0 |
|
B | |
| 31502 | chr17 | 5361403 | G | A |
c.1291G>A
|
p.Ala431Thr
|
- | 3.0 |
|
B | |
| 17382 | chr17 | 5361620 | C | A |
c.1508C>A
|
p.Ser503Tyr
|
- | 3.0 |
|
B | |
| 13953 | chr17 | 5361664 | T | G |
c.1552T>G
|
p.Leu518Val
|
- | 3.0 |
|
B | |
| 18835 | chr17 | 5362909 | C | A |
c.1564-3C>A
|
-
|
- | 3.0 |
|
B | |
| 5264 | chr17 | 5488872 | G | C |
-
c.10G>C
|
-
p.Asp4His
|
- | 3.0 |
|
B | |
| 4087 | chr17 | 5541866 | T | C |
c.2690A>G
|
p.Gln897Arg
|
- | 3.0 |
|
B | |
| 4540 | chr17 | 5583744 | G | A |
c.214C>T
|
p.His72Tyr
|
- | 3.0 |
|
B | |
| 5219 | chr17 | 6600409 | G | A |
c.2059C>T
|
p.Arg687Cys
|
3.0 |
|
B | ||
| 33825 | chr17 | 7312830 | C | G |
-
c.910G>C
-
|
-
p.Ala304Pro
-
|
- | 3.0 |
|
B | |
| 15209 | chr17 | 7313193 | C | T |
-
c.804+19G>A
-
|
-
-
-
|
3.0 |
|
B | ||
| 8165 | chr17 | 7313205 | TACTC | T |
-
c.804+3_804+6del
-
|
-
-
-
|
- | 3.0 |
|
B |