Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21276 | chr7 | 140787559 | C | A |
c.1166G>T
|
p.Arg389Leu
|
- | 3.0 |
|
B | |
| 28602 | chr7 | 140794310 | C | G |
c.1138G>C
|
p.Asp380His
|
- | 3.0 |
|
B | |
| 24278 | chr7 | 140794315 | T | C |
c.1133A>G
|
p.Asn378Ser
|
3.0 |
|
B | ||
| 474 | chr7 | 140794348 | G | A |
c.1100C>T
|
p.Pro367Leu
|
3.0 |
|
B | ||
| 8778 | chr7 | 140794349 | G | A |
c.1099C>T
|
p.Pro367Ser
|
- | 3.0 |
|
B | |
| 6219 | chr7 | 140794357 | G | C |
c.1091C>G
|
p.Ser364Ter
|
- | 3.0 |
|
B | |
| 11172 | chr7 | 140794408 | C | T |
c.1040G>A
|
p.Arg347Gln
|
3.0 |
|
B | ||
| 2483 | chr7 | 140800378 | C | T |
c.964G>A
|
p.Ala322Thr
|
3.0 |
|
B | ||
| 22651 | chr7 | 140800381 | G | A |
c.961C>T
|
p.Pro321Ser
|
3.0 |
|
B | ||
| 19198 | chr7 | 140800456 | C | T |
c.886G>A
|
p.Glu296Lys
|
- | 3.0 |
|
A | |
| 1100 | chr7 | 140801550 | G | A |
c.722C>T
|
p.Thr241Met
|
4.0 |
|
B | ||
| 9075 | chr7 | 140801556 | C | T |
c.716G>A
|
p.Arg239Gln
|
3.0 |
|
B | ||
| 20017 | chr7 | 140801569 | TA | T |
c.712-10del
|
-
|
- | 3.0 |
|
B | |
| 1129 | chr7 | 140807978 | TGGAACATTC | T |
c.684_692del
|
p.Asn229_Pro231del
|
- | 3.5 |
|
B | |
| 22886 | chr7 | 140808892 | C | T |
c.608G>A
|
p.Gly203Glu
|
3.0 |
|
B | ||
| 17579 | chr7 | 140834742 | G | A |
c.371C>T
|
p.Ser124Phe
|
- | 3.0 |
|
B | |
| 25 | chr7 | 140924612 | G | C |
c.92C>G
|
p.Ala31Gly
|
2.0 |
|
B | ||
| 8163 | chr7 | 140924615 | CCGGCGCCG | C |
c.81_88del
|
p.Gly28ArgfsTer25
|
- | 3.0 |
|
B | |
| 35709 | chr7 | 140924663 | G | C |
c.41C>G
|
p.Pro14Arg
|
- |
|
B | ||
| 4083 | chr7 | 142021658 | G | T |
c.631G>T
|
p.Ala211Ser
|
3.0 |
|
B |