Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6809 | chr19 | 15185547 | G | A |
c.2084C>T
|
p.Pro695Leu
|
2.5 |
|
B | ||
| 17407 | chr19 | 15187118 | A | AGGG |
c.1824_1826dup
|
p.Pro609dup
|
- | 3.0 |
|
B | |
| 5048 | chr19 | 15187185 | C | T |
c.1760G>A
|
p.Arg587His
|
2.5 |
|
B | ||
| 23104 | chr19 | 15187212 | C | T |
c.1733G>A
|
p.Arg578His
|
3.0 |
|
B | ||
| 839 | chr19 | 15187877 | T | A |
c.1606+4A>T
|
-
|
- | 3.0 |
|
B | |
| 14660 | chr19 | 15187901 | T | A |
c.1586A>T
|
p.Tyr529Phe
|
- | 3.0 |
|
B | |
| 33073 | chr19 | 15187919 | A | C |
c.1568T>G
|
p.Val523Gly
|
- | 3.0 |
|
B | |
| 20627 | chr19 | 15188354 | G | A |
c.1379-6C>T
|
-
|
- | 3.0 |
|
B | |
| 23105 | chr19 | 15189045 | C | T |
c.1322G>A
|
p.Arg441Gln
|
3.0 |
|
B | ||
| 27196 | chr19 | 15189088 | G | A |
c.1279C>T
|
p.Arg427Cys
|
4.0 |
|
B | ||
| 2602 | chr19 | 15189151 | C | A |
c.1216G>T
|
p.Gly406Cys
|
3.5 |
|
B | ||
| 17814 | chr19 | 15189259 | G | A |
c.1192+14C>T
|
-
|
3.0 |
|
B | ||
| 8662 | chr19 | 15191766 | G | A |
c.781C>T
|
p.Gln261Ter
|
- | 4.0 |
|
B | |
| 22174 | chr19 | 15191777 | G | C |
c.770C>G
|
p.Thr257Ser
|
- | 3.0 |
|
B | |
| 27563 | chr19 | 15191817 | G | A |
c.730C>T
|
p.Arg244Ter
|
4.0 |
|
B | ||
| 17408 | chr19 | 15192128 | C | T |
c.511G>A
|
p.Gly171Ser
|
3.0 |
|
B | ||
| 6391 | chr19 | 15192181 | C | T |
c.458G>A
|
p.Arg153His
|
3.0 |
|
B | ||
| 12032 | chr19 | 15192182 | G | C |
c.457C>G
|
p.Arg153Gly
|
- | 3.0 |
|
B | |
| 6480 | chr19 | 15192522 | G | C |
c.198-3C>G
|
-
|
- | 3.0 |
|
B | |
| 2716 | chr19 | 15197525 | G | T |
c.172C>A
|
p.Leu58Met
|
- | 3.0 |
|
B |