Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9892 | chr2 | 214752460 | C | A |
c.1664G>T
|
p.Ser555Ile
|
- | 3.0 |
|
B | |
| 862 | chr2 | 214752502 | G | A |
c.1622C>T
|
p.Ser541Leu
|
3.0 |
|
B | ||
| 10551 | chr2 | 214752553 | T | C |
c.1571A>G
|
p.Asn524Ser
|
3.0 |
|
B | ||
| 15080 | chr2 | 214769288 | G | C |
c.1339C>G
|
p.Leu447Val
|
2.5 |
|
B | ||
| 33642 | chr2 | 214780965 | G | A |
c.909C>T
|
p.Val303=
|
2.0 |
|
B | ||
| 29494 | chr2 | 214781006 | C | A |
c.868G>T
|
p.Asp290Tyr
|
- | 3.0 |
|
B | |
| 1975 | chr2 | 214781073 | TGTCAAGGA | T |
c.793_800del
|
p.Ser265ArgfsTer3
|
- | 3.5 |
|
B | |
| 34402 | chr2 | 214781115 | C | G |
c.759G>C
|
p.Gln253His
|
- | 3.0 |
|
B | |
| 16171 | chr2 | 214781250 | CT | C |
c.623del
|
p.Lys208ArgfsTer4
|
4.5 |
|
B | ||
| 5544 | chr2 | 214781338 | G | T |
c.536C>A
|
p.Ser179Ter
|
- | 4.0 |
|
B | |
| 34679 | chr2 | 214781464 | C | T |
c.410G>A
|
p.Gly137Glu
|
- | 3.0 |
|
B | |
| 11557 | chr2 | 214792338 | C | T |
c.323G>A
|
p.Cys108Tyr
|
- | 3.0 |
|
B | |
| 8634 | chr2 | 214792344 | T | TGA |
c.315_316dup
|
p.Gln106LeufsTer19
|
- | 4.0 |
|
B | |
| 5354 | chr2 | 214792422 | C | A |
c.239G>T
|
p.Gly80Val
|
- | 3.0 |
|
B | |
| 14914 | chr2 | 214792431 | T | C |
c.230A>G
|
p.Asp77Gly
|
- | 3.0 |
|
B | |
| 25122 | chr2 | 214792440 | C | A |
c.221G>T
|
p.Cys74Phe
|
3.0 |
|
B | ||
| 19041 | chr2 | 214809406 | C | T |
c.158+6G>A
|
-
|
- | 2.0 |
|
B | |
| 451 | chr2 | 214809427 | A | T |
c.143T>A
|
p.Leu48Gln
|
3.0 |
|
S | ||
| 1826 | chr2 | 214809509 | G | A |
c.61C>T
|
p.Arg21Cys
|
3.0 |
|
B | ||
| 687 | chr2 | 214809534 | C | T |
c.36G>A
|
p.Pro12=
|
2.0 |
|
B |