Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28808 | chr9 | 446361 | C | T |
c.5581-9C>T
|
-
|
2.0 |
|
B | ||
| 4599 | chr9 | 446369 | G | T |
c.5581-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 15958 | chr9 | 449805 | G | T |
c.5839G>T
|
p.Val1947Phe
|
3.0 |
|
B | ||
| 2381 | chr9 | 449878 | A | C |
c.5912A>C
|
p.Lys1971Thr
|
- | 3.0 |
|
B | |
| 10702 | chr9 | 452032 | GTGT | G |
c.5985_5987del
|
p.Phe1996del
|
- | 3.0 |
|
B | |
| 6142 | chr9 | 452065 | C | A |
c.6016C>A
|
p.Leu2006Ile
|
- | 3.0 |
|
B | |
| 9115 | chr9 | 452071 | C | T |
c.6022C>T
|
p.Arg2008Ter
|
3.0 |
|
B | ||
| 17173 | chr9 | 464141 | C | T |
c.6240-18C>T
|
-
|
- | 3.0 |
|
B | |
| 17180 | chr9 | 464143 | C | T |
c.6240-16C>T
|
-
|
- | 3.0 |
|
B | |
| 24478 | chr9 | 2029069 | C | T |
c.47C>T
|
p.Ser16Leu
|
- | 3.0 |
|
B | |
| 3034 | chr9 | 2029075 | G | T |
c.53G>T
|
p.Gly18Val
|
- | 3.0 |
|
B | |
| 6845 | chr9 | 2029195 | C | T |
c.173C>T
|
p.Pro58Leu
|
2.5 |
|
B | ||
| 33919 | chr9 | 2034016 | A | G |
c.355+935A>G
|
-
|
3.0 |
|
B | ||
| 2965 | chr9 | 2039570 | G | T |
c.460G>T
|
p.Gly154Trp
|
- | 3.0 |
|
B | |
| 30611 | chr9 | 2039576 | C | T |
c.466C>T
|
p.Leu156Phe
|
- | 3.0 |
|
B | |
| 5450 | chr9 | 2039657 | C | G |
c.547C>G
|
p.Arg183Gly
|
- | 3.0 |
|
B | |
| 32354 | chr9 | 2039667 | T | G |
c.557T>G
|
p.Ile186Ser
|
- | 3.0 |
|
B | |
| 30754 | chr9 | 2039776 | A | ACAG |
c.705_707dup
|
p.Gln238dup
|
1.5 |
|
B | ||
| 20235 | chr9 | 2039776 | A | ACAGCAG |
c.702_707dup
|
p.Gln237_Gln238dup
|
2.0 |
|
B | ||
| 19618 | chr9 | 2039776 | ACAG | A |
c.705_707del
|
p.Gln238del
|
2.0 |
|
B |