Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25141 | chr7 | 142752511 | AT | A |
c.537del
|
p.Thr180ProfsTer57
|
- | 3.0 |
|
B | |
| 28906 | chr7 | 142752547 | G | A |
c.571G>A
|
p.Gly191Arg
|
3.0 |
|
B | ||
| 30607 | chr7 | 142752554 | A | T |
c.578A>T
|
p.Lys193Met
|
3.0 |
|
B | ||
| 12816 | chr7 | 142752556 | G | A |
c.580G>A
|
p.Asp194Asn
|
- | 3.0 |
|
B | |
| 18585 | chr7 | 142752920 | C | T |
c.644C>T
|
p.Ser215Phe
|
- | 3.0 |
|
B | |
| 25129 | chr7 | 142752952 | C | T |
c.676C>T
|
p.Pro226Ser
|
3.0 |
|
B | ||
| 13236 | chr7 | 142752953 | C | T |
c.677C>T
|
p.Pro226Leu
|
- | 3.0 |
|
B | |
| 1018 | chr7 | 142752959 | T | C |
c.683T>C
|
p.Val228Ala
|
- | 3.0 |
|
B | |
| 35323 | chr7 | 142752974 | A | G |
c.698A>G
|
p.Tyr233Cys
|
- | 2.0 |
|
B | |
| 10893 | chr7 | 142863617 | T | C |
c.101-14T>C
|
-
|
- | 3.0 |
|
B | |
| 16503 | chr7 | 142864008 | C | T |
c.208C>T
|
p.Arg70Trp
|
3.0 |
|
B | ||
| 491 | chr7 | 142864092 | C | T |
c.292C>T
|
p.Arg98Cys
|
3.0 |
|
B | ||
| 8779 | chr7 | 142864144 | C | T |
c.344C>T
|
p.Ser115Phe
|
- | 3.0 |
|
B | |
| 14202 | chr7 | 142864189 | T | C |
c.389T>C
|
p.Leu130Pro
|
- | 3.0 |
|
B | |
| 31775 | chr7 | 142864200 | C | A |
c.400C>A
|
p.Gln134Lys
|
3.0 |
|
B | ||
| 2337 | chr7 | 142864336 | C | T |
c.536C>T
|
p.Ala179Val
|
3.0 |
|
B | ||
| 12132 | chr7 | 142864506 | G | A |
c.706G>A
|
p.Val236Met
|
3.0 |
|
B | ||
| 13268 | chr7 | 142864537 | C | T |
c.737C>T
|
p.Thr246Met
|
3.0 |
|
B | ||
| 5559 | chr7 | 142864554 | G | T |
c.754G>T
|
p.Gly252Trp
|
3.0 |
|
B | ||
| 9342 | chr7 | 142864558 | G | T |
c.758G>T
|
p.Gly253Val
|
- | 3.0 |
|
B |