Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4613 | chr9 | 117714617 | G | A |
c.2489G>A
|
p.Gly830Glu
|
3.0 |
|
B | ||
| 3672 | chr9 | 120443733 | G | A |
c.3035C>T
|
p.Pro1012Leu
|
- | 3.0 |
|
B | |
| 31343 | chr9 | 121088548 | C | G |
c.217+5C>G
|
-
|
- | 3.0 |
|
B | |
| 18451 | chr9 | 121095037 | T | A |
c.479+19T>A
|
-
|
- | 3.0 |
|
B | |
| 30614 | chr9 | 121098497 | C | T |
c.733C>T
|
p.Arg245Cys
|
3.0 |
|
B | ||
| 19621 | chr9 | 121113706 | GA | G |
c.1336del
|
p.Ile446Ter
|
3.0 |
|
B | ||
| 14707 | chr9 | 121118340 | G | A |
c.1456-6G>A
|
-
|
- | 3.0 |
|
B | |
| 20241 | chr9 | 121123912 | AT | A |
c.1651-8del
|
-
|
3.0 |
|
B | ||
| 22623 | chr9 | 121138529 | C | T |
c.2203-16C>T
|
-
|
- | 3.0 |
|
B | |
| 30364 | chr9 | 121138685 | G | A |
c.2337+6G>A
|
-
|
- | 3.0 |
|
B | |
| 24350 | chr9 | 121145237 | T | A |
c.3169-7T>A
|
-
|
3.0 |
|
B | ||
| 27352 | chr9 | 121145403 | G | C |
c.3310+18G>C
|
-
|
- | 3.0 |
|
B | |
| 18132 | chr9 | 121152471 | C | T |
c.3964-14C>T
|
-
|
- | 3.0 |
|
B | |
| 11268 | chr9 | 121152525 | T | C |
c.4004T>C
|
p.Leu1335Ser
|
- | 3.0 |
|
B | |
| 11710 | chr9 | 121160122 | CT | C |
c.4930-10del
|
-
|
3.0 |
|
B | ||
| 15093 | chr9 | 121160315 | G | A |
c.5089+13G>A
|
-
|
- | 3.0 |
|
B | |
| 19622 | chr9 | 121161262 | CT | C |
c.5090-585del
|
-
|
3.0 |
|
B | ||
| 20930 | chr9 | 121162269 | A | G |
c.5421A>G
|
p.Lys1807=
|
- | 3.0 |
|
B | |
| 13092 | chr9 | 121165070 | G | A |
c.5551G>A
|
p.Asp1851Asn
|
3.0 |
|
B | ||
| 15194 | chr9 | 121167645 | G | A |
c.5812G>A
|
p.Glu1938Lys
|
- | 3.0 |
|
B |