Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3400 | chr7 | 88794441 | T | A |
c.108+34357T>A
c.502A>T
|
-
p.Lys168Ter
|
- | 3.0 |
|
B | |
| 34596 | chr7 | 91941107 | A | G |
c.8A>G
|
p.Asp3Gly
|
- | 3.0 |
|
B | |
| 13090 | chr7 | 91973706 | C | T |
c.49-5C>T
|
-
|
3.0 |
|
B | ||
| 10915 | chr7 | 91973770 | G | GA |
c.116dup
|
p.Arg40GlufsTer7
|
3.0 |
|
B | ||
| 12730 | chr7 | 91973886 | C | T |
c.224C>T
|
p.Ser75Leu
|
- | 3.0 |
|
B | |
| 28074 | chr7 | 91973921 | C | G |
c.259C>G
|
p.Leu87Val
|
- | 3.0 |
|
B | |
| 9792 | chr7 | 91973943 | G | GT |
c.282dup
|
p.His95SerfsTer2
|
- | 3.0 |
|
B | |
| 9816 | chr7 | 91980322 | T | G |
c.340T>G
|
p.Cys114Gly
|
- | 3.0 |
|
B | |
| 6764 | chr7 | 91992937 | G | A |
c.458G>A
|
p.Ser153Asn
|
- | 3.0 |
|
B | |
| 34254 | chr7 | 91994770 | T | G |
c.726T>G
|
p.Phe242Leu
|
- | 3.0 |
|
B | |
| 32025 | chr7 | 92001242 | G | C |
c.1325G>C
|
p.Gly442Ala
|
- | 3.0 |
|
B | |
| 18896 | chr7 | 92001455 | A | G |
c.1538A>G
|
p.Lys513Arg
|
2.5 |
|
B | ||
| 10929 | chr7 | 92001605 | A | C |
c.1688A>C
|
p.Lys563Thr
|
3.0 |
|
B | ||
| 11881 | chr7 | 92001826 | C | T |
c.1909C>T
|
p.Leu637Phe
|
- | 3.0 |
|
B | |
| 24754 | chr7 | 92002006 | T | A |
c.2089T>A
|
p.Leu697Met
|
- | 3.0 |
|
B | |
| 31409 | chr7 | 92002180 | T | G |
c.2263T>G
|
p.Leu755Val
|
- | 3.0 |
|
B | |
| 9304 | chr7 | 92002306 | G | A |
c.2389G>A
|
p.Val797Ile
|
3.0 |
|
B | ||
| 23613 | chr7 | 92002613 | A | T |
c.2696A>T
|
p.Glu899Val
|
- | 3.0 |
|
B | |
| 25140 | chr7 | 92002735 | GAACTCATGGAAA | G |
c.2823_2834del
|
p.Met942_Leu945del
|
- | 3.0 |
|
B | |
| 2565 | chr7 | 92002736 | A | G |
c.2819A>G
|
p.Glu940Gly
|
- | 3.0 |
|
B |