Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1306 | chr15 | 92946188 | C | G |
c.1349C>G
|
p.Ser450Ter
|
- | 4.5 |
|
B | |
| 28561 | chr15 | 92953340 | A | AG |
c.1503-17_1503-16insG
|
-
|
- | 3.0 |
|
B | |
| 13224 | chr15 | 92953416 | C | T |
c.1562C>T
|
p.Ser521Leu
|
- | 3.0 |
|
B | |
| 25070 | chr15 | 92967447 | C | T |
c.2123C>T
|
p.Ser708Phe
|
- | 3.0 |
|
B | |
| 34298 | chr15 | 92967507 | A | AC |
c.2183_2184insC
|
p.Tyr729LeufsTer25
|
- | 4.0 |
|
B | |
| 34299 | chr15 | 92967509 | T | G |
c.2185T>G
|
p.Tyr729Asp
|
- | 4.0 |
|
B | |
| 30922 | chr15 | 92971925 | C | G |
c.2350C>G
|
p.Leu784Val
|
- | 3.0 |
|
B | |
| 28468 | chr15 | 92972337 | C | T |
c.2425C>T
|
p.Arg809Ter
|
4.5 |
|
B | ||
| 12840 | chr15 | 92972409 | C | T |
c.2497C>T
|
p.Pro833Ser
|
3.0 |
|
B | ||
| 20135 | chr15 | 92972437 | T | C |
c.2505+20T>C
|
-
|
- | 2.5 |
|
B | |
| 26827 | chr15 | 92978322 | G | A |
c.2666G>A
|
p.Trp889Ter
|
4.0 |
|
B | ||
| 12489 | chr15 | 92979295 | G | A |
c.2876+12G>A
|
-
|
- | 3.0 |
|
B | |
| 33242 | chr15 | 92984506 | C | T |
c.3237+6C>T
|
-
|
- | 3.0 |
|
B | |
| 2437 | chr15 | 92985504 | A | G |
c.3244A>G
|
p.Thr1082Ala
|
3.0 |
|
B | ||
| 32939 | chr15 | 92992850 | C | T |
c.3456-9C>T
|
-
|
- | 3.0 |
|
B | |
| 11841 | chr15 | 92992924 | G | A |
c.3521G>A
|
p.Gly1174Asp
|
- | 3.0 |
|
B | |
| 7425 | chr15 | 92997097 | T | A |
c.3734+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 9595 | chr15 | 92997314 | G | A |
c.3796G>A
|
p.Asp1266Asn
|
- | 3.0 |
|
B | |
| 11149 | chr15 | 93002203 | G | GA |
c.4173dup
|
p.Gln1392ThrfsTer17
|
4.0 |
|
B | ||
| 3583 | chr15 | 93002244 | A | G |
c.4205A>G
|
p.Glu1402Gly
|
- | 3.0 |
|
B |