Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34285 | chr7 | 6009498 | G | C |
-
c.135G>C
|
-
p.Gln45His
|
- | 3.0 |
|
B | |
| 13586 | chr7 | 6142924 | C | T |
c.796-8C>T
|
-
|
3.0 |
|
B | ||
| 15482 | chr7 | 6374769 | G | A |
c.34G>A
|
p.Gly12Arg
|
- | 4.0 |
|
B | |
| 5821 | chr7 | 6387261 | C | G |
c.85C>G
|
p.Pro29Ala
|
- | 3.5 |
|
B | |
| 307 | chr7 | 6387261 | C | T |
c.85C>T
|
p.Pro29Ser
|
4.33 |
|
A | ||
| 25340 | chr7 | 6398695 | C | T |
c.226-1431C>T
|
-
|
3.0 |
|
B | ||
| 15712 | chr7 | 6400166 | C | T |
c.266C>T
|
p.Ser89Leu
|
- | 3.0 |
|
B | |
| 7535 | chr7 | 6401927 | A | T |
c.348A>T
|
p.Lys116Asn
|
- | 3.0 |
|
B | |
| 7603 | chr7 | 6402343 | C | T |
c.476C>T
|
p.Ala159Val
|
4.0 |
|
B | ||
| 11177 | chr7 | 6402370 | T | A |
c.503T>A
|
p.Val168Glu
|
- | 3.0 |
|
B | |
| 6064 | chr7 | 13895985 | C | G |
c.1315G>C
|
p.Glu439Gln
|
- | 3.0 |
|
B | |
| 8113 | chr7 | 13896072 | A | C |
c.1228T>G
|
p.Tyr410Asp
|
- | 3.0 |
|
B | |
| 15450 | chr7 | 13900829 | C | T |
c.1121G>A
|
p.Arg374His
|
3.0 |
|
B | ||
| 11192 | chr7 | 13906490 | A | C |
c.1050T>G
|
p.Asn350Lys
|
- | 3.0 |
|
B | |
| 25627 | chr7 | 13906570 | G | A |
c.970C>T
|
p.Arg324Trp
|
3.0 |
|
B | ||
| 29082 | chr7 | 13909635 | C | A |
c.937G>T
|
p.Asp313Tyr
|
3.0 |
|
B | ||
| 4570 | chr7 | 13909689 | C | G |
c.883G>C
|
p.Glu295Gln
|
- | 3.0 |
|
B | |
| 31543 | chr7 | 13911240 | T | G |
c.870A>C
|
p.Glu290Asp
|
- | 3.0 |
|
B | |
| 2014 | chr7 | 13911294 | G | T |
c.816C>A
|
p.Cys272Ter
|
- | 3.0 |
|
B | |
| 15596 | chr7 | 13911301 | G | C |
c.809C>G
|
p.Pro270Arg
|
- | 3.0 |
|
B |