Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25739 | chr15 | 41696609 | T | TTC |
c.1600_1601dup
|
p.Pro535HisfsTer13
|
- | 3.5 |
|
B | |
| 28649 | chr15 | 41696662 | G | A |
c.1652G>A
|
p.Trp551Ter
|
- | 4.0 |
|
B | |
| 13461 | chr15 | 41696860 | C | T |
c.1850C>T
|
p.Pro617Leu
|
- | 3.0 |
|
B | |
| 24724 | chr15 | 41696876 | CTG | C |
c.1868_1869del
|
p.Cys623Ter
|
- | 4.0 |
|
B | |
| 22375 | chr15 | 41698860 | TAGGAAGCTCTAGACATTCATGC | T |
c.2014_2035del
|
p.Glu672LeufsTer32
|
- | 3.5 |
|
B | |
| 10731 | chr15 | 41707820 | C | T |
c.2281C>T
|
p.Pro761Ser
|
3.0 |
|
B | ||
| 33407 | chr15 | 41707866 | A | G |
c.2320+7A>G
|
-
|
- | 3.0 |
|
B | |
| 29900 | chr15 | 41708191 | C | A |
c.2408C>A
|
p.Ser803Tyr
|
- | 3.0 |
|
B | |
| 28766 | chr15 | 41710752 | A | C |
c.2487A>C
|
p.Glu829Asp
|
- | 3.0 |
|
B | |
| 24854 | chr15 | 41710784 | C | A |
c.2519C>A
|
p.Thr840Lys
|
- | 3.0 |
|
B | |
| 7222 | chr15 | 41710797 | TTCTTCTAATGC | T |
c.2535_2545del
|
p.Ser846HisfsTer11
|
- | 4.0 |
|
B | |
| 5053 | chr15 | 41710861 | C | T |
c.2596C>T
|
p.Arg866Ter
|
- | 4.0 |
|
B | |
| 25954 | chr15 | 41711038 | C | T |
c.2773C>T
|
p.Pro925Ser
|
- | 3.0 |
|
B | |
| 23270 | chr15 | 41711240 | A | C |
c.2975A>C
|
p.Gln992Pro
|
- | 3.0 |
|
B | |
| 8072 | chr15 | 41711268 | T | G |
c.3003T>G
|
p.Cys1001Trp
|
- | 3.0 |
|
B | |
| 6968 | chr15 | 41713193 | C | T |
c.3127C>T
|
p.Arg1043Ter
|
- | 4.5 |
|
B | |
| 8071 | chr15 | 41713223 | C | T |
c.3157C>T
|
p.Arg1053Ter
|
4.0 |
|
B | ||
| 31191 | chr15 | 41713358 | CAT | C |
c.3293_3294del
|
p.His1098LeufsTer14
|
- | 4.0 |
|
B | |
| 28616 | chr15 | 41727212 | C | T |
c.3463C>T
|
p.Arg1155Ter
|
4.0 |
|
B | ||
| 6250 | chr15 | 41727363 | G | T |
c.3614G>T
|
p.Gly1205Val
|
- | 3.0 |
|
B |