Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1300 | chr19 | 38548259 | C | T |
c.12121C>T
|
p.Arg4041Trp
|
3.0 |
|
B | ||
| 6378 | chr19 | 38548350 | T | C |
c.12212T>C
|
p.Val4071Ala
|
- | 3.0 |
|
B | |
| 23537 | chr19 | 38548382 | G | T |
c.12244G>T
|
p.Asp4082Tyr
|
- | 3.0 |
|
B | |
| 9209 | chr19 | 38561105 | G | A |
c.12283-8G>A
|
-
|
2.5 |
|
B | ||
| 22175 | chr19 | 38561115 | C | T |
c.12285C>T
|
p.Ala4095=
|
- | 3.0 |
|
B | |
| 9686 | chr19 | 38561162 | T | G |
c.12332T>G
|
p.Leu4111Arg
|
- | 3.0 |
|
B | |
| 23644 | chr19 | 38561181 | T | G |
c.12351T>G
|
p.Asp4117Glu
|
- | 3.0 |
|
B | |
| 23211 | chr19 | 38561217 | C | A |
c.12387C>A
|
p.Asn4129Lys
|
- | 3.0 |
|
B | |
| 24529 | chr19 | 38561425 | A | G |
c.12595A>G
|
p.Thr4199Ala
|
- | 3.0 |
|
B | |
| 24694 | chr19 | 38561473 | G | A |
c.12624+19G>A
|
-
|
2.0 |
|
B | ||
| 23593 | chr19 | 38564944 | C | T |
c.12625-15C>T
|
-
|
2.5 |
|
B | ||
| 16458 | chr19 | 38565401 | G | A |
c.13067G>A
|
p.Gly4356Asp
|
3.0 |
|
B | ||
| 33463 | chr19 | 38565479 | G | A |
c.13145G>A
|
p.Gly4382Asp
|
3.0 |
|
B | ||
| 22637 | chr19 | 38565652 | G | A |
c.13318G>A
|
p.Val4440Met
|
- | 3.0 |
|
B | |
| 29010 | chr19 | 38565658 | G | A |
c.13324G>A
|
p.Asp4442Asn
|
3.0 |
|
B | ||
| 33411 | chr19 | 38565658 | G | C |
c.13324G>C
|
p.Asp4442His
|
- | 3.0 |
|
B | |
| 16983 | chr19 | 38565673 | C | T |
c.13339C>T
|
p.Arg4447Trp
|
3.0 |
|
B | ||
| 31307 | chr19 | 38565679 | G | T |
c.13345G>T
|
p.Glu4449Ter
|
- | 3.0 |
|
B | |
| 18185 | chr19 | 38566996 | C | T |
c.13514+9C>T
|
-
|
- | 3.0 |
|
B | |
| 2689 | chr19 | 38572139 | G | A |
c.13867G>A
|
p.Asp4623Asn
|
3.0 |
|
B |