Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35517 | chr7 | 98967550 | G | A |
c.7364G>A
|
p.Arg2455His
|
2.0 |
|
B | ||
| 16117 | chr7 | 98970124 | G | A |
c.7525G>A
|
p.Val2509Met
|
2.0 |
|
B | ||
| 34073 | chr7 | 98970265 | C | T |
c.7666C>T
|
p.Arg2556Trp
|
- | 3.0 |
|
B | |
| 11740 | chr7 | 98971821 | T | G |
c.7715T>G
|
p.Leu2572Arg
|
- | 3.0 |
|
B | |
| 9245 | chr7 | 98971896 | T | C |
c.7790T>C
|
p.Met2597Thr
|
3.0 |
|
B | ||
| 9246 | chr7 | 98971899 | T | C |
c.7793T>C
|
p.Leu2598Pro
|
- | 3.0 |
|
B | |
| 3049 | chr7 | 98976272 | A | C |
c.7959+4A>C
|
-
|
3.0 |
|
B | ||
| 30185 | chr7 | 98978227 | A | G |
c.8402A>G
|
p.Glu2801Gly
|
- | 3.0 |
|
B | |
| 6120 | chr7 | 98978864 | G | A |
c.8594G>A
|
p.Arg2865Gln
|
- | 3.0 |
|
B | |
| 17612 | chr7 | 98978884 | A | T |
c.8614A>T
|
p.Met2872Leu
|
- | 3.0 |
|
B | |
| 13730 | chr7 | 98983291 | G | C |
c.8854G>C
|
p.Glu2952Gln
|
- | 3.0 |
|
B | |
| 12174 | chr7 | 98984076 | C | A |
c.9023-17C>A
|
-
|
- | 3.0 |
|
B | |
| 20228 | chr7 | 98984929 | A | AT |
c.9289-7dup
|
-
|
2.0 |
|
B | ||
| 31664 | chr7 | 98988794 | C | T |
c.9419C>T
|
p.Ala3140Val
|
- | 3.0 |
|
B | |
| 5625 | chr7 | 98988892 | G | A |
c.9517G>A
|
p.Val3173Met
|
3.0 |
|
B | ||
| 601 | chr7 | 98988962 | C | T |
c.9587C>T
|
p.Ala3196Val
|
3.0 |
|
B | ||
| 1473 | chr7 | 98990533 | C | G |
c.9670C>G
|
p.Pro3224Ala
|
- | 3.0 |
|
B | |
| 10369 | chr7 | 98992210 | G | A |
c.9830G>A
|
p.Arg3277Gln
|
- | 3.0 |
|
B | |
| 9766 | chr7 | 98993699 | G | A |
c.10009G>A
|
p.Asp3337Asn
|
- | 3.0 |
|
B | |
| 30129 | chr7 | 98993744 | G | A |
c.10047+7G>A
|
-
|
- | 3.0 |
|
B |