Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9512 | chr22 | 27799954 | G | A |
c.590C>T
|
p.Pro197Leu
|
- | 3.0 |
|
B | |
| 12024 | chr22 | 27800136 | G | A |
c.408C>T
|
p.Tyr136=
|
2.5 |
|
B | ||
| 33172 | chr22 | 27800454 | C | T |
c.90G>A
|
p.Met30Ile
|
- | 3.0 |
|
B | |
| 23620 | chr22 | 27800484 | C | A |
c.60G>T
|
p.Glu20Asp
|
- | 3.0 |
|
B | |
| 21566 | chr22 | 28687925 | C | T |
c.1604G>A
|
p.Arg535His
|
2.0 |
|
B | ||
| 11981 | chr22 | 28687944 | C | T |
c.1585G>A
|
p.Gly529Ser
|
- | 3.0 |
|
B | |
| 23821 | chr22 | 28687999 | G | A |
c.1543-13C>T
|
-
|
- | 3.0 |
|
B | |
| 35371 | chr22 | 28689199 | C | A |
c.1478G>T
|
p.Arg493Ile
|
- | 3.5 |
|
B | |
| 9053 | chr22 | 28694037 | G | A |
c.1456C>T
|
p.Leu486Phe
|
- | 3.0 |
|
B | |
| 2287 | chr22 | 28695190 | C | T |
c.1312G>A
|
p.Asp438Asn
|
3.0 |
|
B | ||
| 15528 | chr22 | 28695224 | AG | A |
c.1277del
|
p.Pro426LeufsTer11
|
- | 4.0 |
|
B | |
| 21421 | chr22 | 28695250 | T | C |
c.1260-8A>G
|
-
|
3.0 |
|
B | ||
| 35372 | chr22 | 28695705 | C | A |
c.1259+5G>T
|
-
|
- | 3.0 |
|
B | |
| 21019 | chr22 | 28695770 | C | T |
c.1199G>A
|
p.Gly400Glu
|
3.0 |
|
B | ||
| 35373 | chr22 | 28695850 | C | A |
c.1119G>T
|
p.Lys373Asn
|
- | 3.0 |
|
B | |
| 23794 | chr22 | 28695852 | T | C |
c.1117A>G
|
p.Lys373Glu
|
3.0 |
|
B | ||
| 14426 | chr22 | 28695861 | C | G |
c.1108G>C
|
p.Gly370Arg
|
3.0 |
|
B | ||
| 25208 | chr22 | 28695866 | T | G |
c.1103A>C
|
p.Asp368Ala
|
- | 3.0 |
|
B | |
| 6514 | chr22 | 28703508 | T | C |
c.905A>G
|
p.Glu302Gly
|
3.0 |
|
B | ||
| 22797 | chr22 | 28710007 | T | A |
c.845A>T
|
p.His282Leu
|
- | 3.0 |
|
B |