Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30417 | chr2 | 141810363 | C | A |
c.121G>T
|
p.Asp41Tyr
|
- | 3.0 |
|
B | |
| 8402 | chr2 | 141810365 | T | A |
c.119A>T
|
p.His40Leu
|
- | 3.0 |
|
B | |
| 1825 | chr2 | 141810398 | T | A |
c.86A>T
|
p.Gln29Leu
|
- | 3.0 |
|
B | |
| 29547 | chr2 | 142130568 | ACACTCACTTATCTGCAAGCATCGCCCAGCAGGAAAGCCAAGGAAGTCAGGGGAGGGGAGCGGGGAGGTGTTCTCCTTACCTCGGTCGGCTCC | A |
c.70_82+79del
|
p.?
|
- | 4.0 |
|
B | |
| 9890 | chr2 | 142130648 | C | A |
c.82G>T
|
p.Asp28Tyr
|
- | 3.0 |
|
B | |
| 13356 | chr2 | 142130650 | C | T |
c.80G>A
|
p.Arg27Gln
|
3.0 |
|
B | ||
| 11272 | chr2 | 144389415 | GA | G |
c.*35del
|
-
|
3.0 |
|
B | ||
| 136 | chr2 | 147896300 | G | A |
c.56-1G>A
|
p.?
|
- | 4.67 |
|
A | |
| 17041 | chr2 | 147896375 | C | T |
c.130C>T
|
p.Gln44Ter
|
- | 4.0 |
|
B | |
| 29548 | chr2 | 147896436 | G | T |
c.191G>T
|
p.Trp64Leu
|
- | 3.0 |
|
B | |
| 8033 | chr2 | 147896443 | TA | T |
c.199del
|
p.Ile67PhefsTer7
|
- | 3.5 |
|
B | |
| 21969 | chr2 | 147896450 | G | C |
c.205G>C
|
p.Gly69Arg
|
- | 3.0 |
|
B | |
| 31097 | chr2 | 147896478 | G | T |
c.233G>T
|
p.Cys78Phe
|
- | 3.0 |
|
B | |
| 5677 | chr2 | 147896490 | A | G |
c.245A>G
|
p.Asp82Gly
|
- | 3.0 |
|
B | |
| 32795 | chr2 | 147896498 | T | A |
c.253T>A
|
p.Cys85Ser
|
- | 3.0 |
|
B | |
| 19389 | chr2 | 147899471 | G | GA |
c.285dup
|
p.Asp96ArgfsTer4
|
- | 4.0 |
|
B | |
| 8862 | chr2 | 147899538 | C | G |
c.344C>G
|
p.Ser115Cys
|
- | 3.0 |
|
B | |
| 2705 | chr2 | 147899553 | TG | T |
c.361del
|
p.Glu121LysfsTer29
|
- | 4.0 |
|
B | |
| 26292 | chr2 | 147899568 | G | GT |
c.373+2dup
|
-
|
- | 3.5 |
|
B | |
| 31654 | chr2 | 147899896 | C | T |
c.526C>T
|
p.Gln176Ter
|
- | 4.0 |
|
B |