Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1353 | chr12 | 49038849 | C | T |
c.8507G>A
|
p.Arg2836His
|
3.0 |
|
B | ||
| 7831 | chr12 | 49038868 | G | A |
c.8488C>T
|
p.Arg2830Ter
|
4.5 |
|
B | ||
| 27914 | chr12 | 49038925 | G | GT |
c.8430dup
|
p.Gln2811ThrfsTer34
|
4.0 |
|
B | ||
| 22915 | chr12 | 49038942 | G | A |
c.8414C>T
|
p.Pro2805Leu
|
3.0 |
|
B | ||
| 13884 | chr12 | 49039304 | C | T |
c.8284G>A
|
p.Gly2762Arg
|
- | 3.0 |
|
B | |
| 1009 | chr12 | 49039566 | G | T |
c.8098C>A
|
p.Leu2700Met
|
- | 3.0 |
|
B | |
| 8149 | chr12 | 49039824 | C | T |
c.7946G>A
|
p.Gly2649Glu
|
- | 3.0 |
|
B | |
| 22232 | chr12 | 49039831 | C | T |
c.7939G>A
|
p.Asp2647Asn
|
- | 3.0 |
|
B | |
| 25113 | chr12 | 49039929 | G | A |
c.7841C>T
|
p.Ser2614Leu
|
2.0 |
|
B | ||
| 6421 | chr12 | 49039939 | G | A |
c.7831C>T
|
p.Arg2611Cys
|
2.5 |
|
B | ||
| 3195 | chr12 | 49040216 | A | T |
c.7554T>A
|
p.Phe2518Leu
|
- | 3.0 |
|
B | |
| 812 | chr12 | 49040356 | GT | G |
c.7413del
|
p.Gln2473SerfsTer12
|
- | 3.5 |
|
B | |
| 5706 | chr12 | 49040456 | TG | T |
c.7313del
|
p.Ser2438TyrfsTer47
|
- | 3.5 |
|
B | |
| 30495 | chr12 | 49040502 | G | A |
c.7268C>T
|
p.Ser2423Phe
|
- | 3.0 |
|
B | |
| 11949 | chr12 | 49040524 | G | A |
c.7246C>T
|
p.Gln2416Ter
|
- | 4.0 |
|
B | |
| 30426 | chr12 | 49040542 | G | A |
c.7228C>T
|
p.Arg2410Ter
|
4.5 |
|
B | ||
| 9917 | chr12 | 49040586 | C | A |
c.7184G>T
|
p.Cys2395Phe
|
- | 3.0 |
|
B | |
| 26386 | chr12 | 49040586 | C | T |
c.7184G>A
|
p.Cys2395Tyr
|
- | 3.0 |
|
B | |
| 28794 | chr12 | 49040708 | AG | A |
c.7061del
|
p.Pro2354LeufsTer30
|
- | 4.0 |
|
B | |
| 762 | chr12 | 49040761 | G | A |
c.7009C>T
|
p.Gln2337Ter
|
- | 4.0 |
|
B |