Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35275 | chr7 | 5997348 | C | T |
c.781G>A
|
p.Asp261Asn
|
3.0 |
|
B | ||
| 306 | chr7 | 5997399 | G | A |
c.730C>T
|
p.Gln244Ter
|
5.0 |
|
B | ||
| 9870 | chr7 | 5999229 | G | A |
c.584C>T
|
p.Ser195Leu
|
- | 3.0 |
|
B | |
| 30035 | chr7 | 5999239 | A | C |
c.574T>G
|
p.Cys192Gly
|
3.0 |
|
B | ||
| 15121 | chr7 | 6002484 | C | T |
c.506G>A
|
p.Arg169His
|
3.0 |
|
B | ||
| 16746 | chr7 | 6002530 | C | T |
c.460G>A
|
p.Gly154Arg
|
3.0 |
|
B | ||
| 21516 | chr7 | 6002607 | G | A |
c.383C>T
|
p.Ser128Leu
|
2.0 |
|
B | ||
| 10609 | chr7 | 6003720 | C | T |
c.323G>A
|
p.Gly108Glu
|
3.0 |
|
B | ||
| 20335 | chr7 | 6003961 | A | G |
c.250+11T>C
|
-
|
- | 3.0 |
|
B | |
| 9019 | chr7 | 6003971 | C | T |
c.250+1G>A
|
p.?
|
4.5 |
|
B | ||
| 21517 | chr7 | 6003982 | G | A |
c.240C>T
|
p.Phe80=
|
2.5 |
|
B | ||
| 3884 | chr7 | 6003997 | T | TA |
c.224dup
|
p.Glu76ArgfsTer16
|
- | 4.0 |
|
B | |
| 27415 | chr7 | 6004062 | G | C |
c.164-4C>G
|
-
|
2.5 |
|
B | ||
| 11819 | chr7 | 6009142 | G | A |
-
-
|
-
-
|
3.0 |
|
B | ||
| 3914 | chr7 | 6009157 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 4982 | chr7 | 6009192 | G | A |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 4093 | chr7 | 6009193 | G | A |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 11879 | chr7 | 6009269 | G | A |
-
-
|
-
-
|
3.0 |
|
B | ||
| 25054 | chr7 | 6009431 | G | A |
-
c.68G>A
|
-
p.Cys23Tyr
|
- | 3.0 |
|
B | |
| 33590 | chr7 | 6009470 | GC | G |
-
c.110del
|
-
p.Pro37GlnfsTer27
|
- | 3.5 |
|
B |