Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21344 | chr22 | 36349106 | G | T |
c.131C>A
|
p.Ala44Asp
|
- | 3.0 |
|
B | |
| 29306 | chr22 | 36349122 | T | G |
c.115A>C
|
p.Ser39Arg
|
- | 3.0 |
|
B | |
| 7175 | chr22 | 36349147 | C | A |
c.90G>T
|
p.Lys30Asn
|
- | 3.0 |
|
B | |
| 12230 | chr22 | 36938416 | G | A |
c.2608G>A
|
p.Val870Ile
|
3.0 |
|
B | ||
| 34358 | chr22 | 37206638 | G | A |
c.1166C>T
|
p.Pro389Leu
|
3.0 |
|
B | ||
| 35700 | chr22 | 37206947 | G | A |
c.857C>T
|
p.Pro286Leu
|
- | 3.0 |
|
B | |
| 22568 | chr22 | 37207076 | G | A |
c.728C>T
|
p.Pro243Leu
|
- | 3.0 |
|
B | |
| 24874 | chr22 | 37207076 | G | T |
c.728C>A
|
p.Pro243His
|
- | 3.0 |
|
B | |
| 24156 | chr22 | 37207247 | C | T |
c.557G>A
|
p.Arg186His
|
3.0 |
|
B | ||
| 12778 | chr22 | 37207274 | G | A |
c.530C>T
|
p.Pro177Leu
|
- | 3.0 |
|
B | |
| 33524 | chr22 | 37207275 | G | A |
c.529C>T
|
p.Pro177Ser
|
3.0 |
|
B | ||
| 15063 | chr22 | 37207292 | G | A |
c.512C>T
|
p.Ser171Leu
|
3.0 |
|
B | ||
| 20790 | chr22 | 37207638 | C | T |
c.166G>A
|
p.Val56Met
|
3.0 |
|
B | ||
| 4368 | chr22 | 37375107 | G | A |
c.428C>T
|
p.Thr143Met
|
3.0 |
|
B | ||
| 16274 | chr22 | 37973523 | G | A |
c.1373C>T
-
|
p.Pro458Leu
-
|
- | 3.0 |
|
B | |
| 2404 | chr22 | 37973693 | G | GTCAA |
c.1199_1202dup
-
|
p.Tyr402Ter
-
|
- | 3.0 |
|
B | |
| 2822 | chr22 | 37973707 | G | A |
c.1189C>T
-
|
p.Arg397Cys
-
|
3.0 |
|
B | ||
| 18347 | chr22 | 37977856 | T | C |
c.697+11A>G
|
-
|
3.0 |
|
B | ||
| 8128 | chr22 | 37977868 | T | TG |
c.695dup
|
p.Gly233ArgfsTer48
|
- | 3.5 |
|
B | |
| 6481 | chr22 | 37977920 | C | T |
c.644G>A
|
p.Arg215Gln
|
2.5 |
|
B |