Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16454 | chr15 | 73994867 | C | T |
c.55C>T
-
|
p.Gln19Ter
-
|
- | 4.0 |
|
B | |
| 2916 | chr15 | 73994898 | C | T |
c.86C>T
-
|
p.Pro29Leu
-
|
3.0 |
|
B | ||
| 11253 | chr15 | 73998008 | C | T |
c.134C>T
|
p.Ala45Val
|
3.0 |
|
B | ||
| 4273 | chr15 | 73998124 | T | C |
c.250T>C
|
p.Ser84Pro
|
- | 3.0 |
|
B | |
| 6271 | chr15 | 74022830 | T | C |
c.605T>C
|
p.Ile202Thr
|
- | 3.5 |
|
B | |
| 2601 | chr15 | 74022887 | G | A |
c.662G>A
|
p.Ser221Asn
|
- | 3.0 |
|
B | |
| 24954 | chr15 | 74023145 | G | C |
c.920G>C
|
p.Arg307Pro
|
- | 3.0 |
|
B | |
| 29742 | chr15 | 74023159 | A | T |
c.934A>T
|
p.Met312Leu
|
- | 3.0 |
|
B | |
| 2639 | chr15 | 74023255 | G | A |
c.1030G>A
|
p.Glu344Lys
|
- | 3.0 |
|
B | |
| 8759 | chr15 | 74023401 | G | T |
c.1176G>T
|
p.Gln392His
|
- | 3.0 |
|
B | |
| 28559 | chr15 | 74033258 | T | G |
c.1501T>G
|
p.Leu501Val
|
- | 3.0 |
|
B | |
| 2889 | chr15 | 74033402 | G | A |
c.1645G>A
|
p.Ala549Thr
|
1.5 |
|
B | ||
| 23524 | chr15 | 74034645 | G | T |
c.1710+115G>T
|
-
|
- | 3.0 |
|
B | |
| 13628 | chr15 | 74035201 | A | G |
c.1710+671A>G
|
-
|
- | 3.0 |
|
B | |
| 11950 | chr15 | 74035204 | GTCCTCGCCAGCCCAC | G |
c.1710+715_1710+729del
|
-
|
3.0 |
|
B | ||
| 16812 | chr15 | 74035240 | G | A |
c.1710+710G>A
|
-
|
3.0 |
|
B | ||
| 16939 | chr15 | 74035260 | T | C |
c.1710+730T>C
|
-
|
3.0 |
|
B | ||
| 34779 | chr15 | 74035324 | T | G |
c.1710+794T>G
|
-
|
- | 3.0 |
|
B | |
| 21867 | chr15 | 74035950 | G | C |
c.1710+1420G>C
|
-
|
3.0 |
|
B | ||
| 16813 | chr15 | 74043047 | C | T |
c.1769C>T
|
p.Pro590Leu
|
3.0 |
|
B |