Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28365 | chr21 | 10595990 | T | G |
c.1179T>G
|
p.Tyr393Ter
|
- | 3.0 |
|
B | |
| 17423 | chr21 | 10596046 | G | A |
c.1235G>A
|
p.Arg412Gln
|
3.0 |
|
B | ||
| 22414 | chr21 | 10597999 | C | T |
c.1277-16C>T
|
-
|
3.0 |
|
B | ||
| 14805 | chr21 | 10598008 | G | A |
c.1277-7G>A
|
-
|
3.0 |
|
B | ||
| 27656 | chr21 | 10598078 | C | T |
c.1340C>T
|
p.Ser447Leu
|
3.0 |
|
B | ||
| 31313 | chr21 | 10602045 | T | G |
c.1357-13T>G
|
-
|
3.0 |
|
B | ||
| 35195 | chr21 | 10602146 | A | C |
c.1445A>C
|
p.Tyr482Ser
|
1.0 |
|
B | ||
| 35196 | chr21 | 10602166 | G | A |
c.1449+16G>A
|
-
|
1.0 |
|
B | ||
| 19813 | chr21 | 10603541 | GA | G |
c.1450-18del
|
-
|
- | 3.0 |
|
B | |
| 13752 | chr21 | 10603544 | AT | A |
c.1450-9del
|
-
|
3.0 |
|
B | ||
| 14236 | chr21 | 10603622 | G | A |
c.1510G>A
|
p.Glu504Lys
|
3.0 |
|
B | ||
| 18193 | chr21 | 10603652 | C | T |
c.1520+20C>T
|
-
|
3.0 |
|
B | ||
| 14649 | chr21 | 10605397 | TA | T |
c.1521-18del
|
-
|
- | 3.0 |
|
B | |
| 31382 | chr21 | 10605412 | C | A |
c.1521-5C>A
|
-
|
3.0 |
|
B | ||
| 14469 | chr21 | 10605430 | A | G |
c.1534A>G
|
p.Lys512Glu
|
- | 3.0 |
|
B | |
| 20847 | chr21 | 10605442 | G | A |
c.1546G>A
|
p.Asp516Asn
|
3.0 |
|
B | ||
| 31608 | chr21 | 10605452 | A | G |
c.1556A>G
|
p.His519Arg
|
3.0 |
|
B | ||
| 26367 | chr21 | 10605462 | A | C |
c.1566A>C
|
p.Lys522Asn
|
- | 3.0 |
|
B | |
| 12218 | chr21 | 10605529 | G | A |
c.1633G>A
|
p.Asp545Asn
|
3.0 |
|
B | ||
| 17038 | chr21 | 10605532 | G | T |
c.1636G>T
|
p.Val546Phe
|
- | 3.0 |
|
B |