Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15109 | chr19 | 38517577 | C | A |
c.9904C>A
|
p.Pro3302Thr
|
- | 3.0 |
|
B | |
| 23171 | chr19 | 38517610 | A | C |
c.9937A>C
|
p.Asn3313His
|
- | 3.0 |
|
B | |
| 16850 | chr19 | 38517710 | G | A |
c.10018+19G>A
|
-
|
- | 3.0 |
|
B | |
| 7366 | chr19 | 38519207 | C | A |
c.10019-7C>A
|
-
|
- | 3.0 |
|
B | |
| 16851 | chr19 | 38519316 | C | T |
c.10121C>T
|
p.Ser3374Phe
|
- | 3.0 |
|
B | |
| 2838 | chr19 | 38519334 | G | A |
c.10139G>A
|
p.Arg3380His
|
3.0 |
|
B | ||
| 22015 | chr19 | 38519456 | T | A |
c.10259+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 23319 | chr19 | 38519461 | G | T |
c.10259+7G>T
|
-
|
- | 3.0 |
|
B | |
| 34119 | chr19 | 38519465 | C | A |
c.10259+11C>A
|
-
|
- | 3.0 |
|
B | |
| 12408 | chr19 | 38523025 | C | T |
c.10260-3C>T
|
-
|
- | 3.0 |
|
B | |
| 18341 | chr19 | 38523062 | G | A |
c.10294G>A
|
p.Glu3432Lys
|
- | 3.0 |
|
B | |
| 31111 | chr19 | 38523118 | G | C |
c.10347+3G>C
|
-
|
- | 3.0 |
|
B | |
| 1351 | chr19 | 38523123 | C | T |
c.10347+8C>T
|
-
|
2.0 |
|
B | ||
| 34664 | chr19 | 38523207 | C | T |
c.10348-10C>T
|
-
|
- | 3.0 |
|
B | |
| 11960 | chr19 | 38523251 | A | T |
c.10382A>T
|
p.Gln3461Leu
|
- | 3.0 |
|
B | |
| 7824 | chr19 | 38525335 | G | A |
c.10459G>A
|
p.Gly3487Ser
|
3.0 |
|
B | ||
| 8179 | chr19 | 38525353 | C | T |
c.10477C>T
|
p.Arg3493Cys
|
3.0 |
|
B | ||
| 7341 | chr19 | 38525383 | T | A |
c.10507T>A
|
p.Tyr3503Asn
|
- | 3.0 |
|
B | |
| 24523 | chr19 | 38525414 | C | A |
c.10538C>A
|
p.Thr3513Lys
|
- | 3.0 |
|
B | |
| 7199 | chr19 | 38525477 | C | T |
c.10601C>T
|
p.Thr3534Met
|
3.0 |
|
B |