Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33709 | chr19 | 11033318 | G | A |
c.3575G>A
|
p.Arg1192His
|
- | 3.0 |
|
B | |
| 9598 | chr19 | 11033407 | CTCAACGTGGACCAGAAGG | C |
c.3666_3683del
|
p.Asn1223_Val1228del
|
- | 3.0 |
|
B | |
| 12063 | chr19 | 11033408 | T | C |
c.3665T>C
|
p.Leu1222Pro
|
- | 3.0 |
|
B | |
| 4397 | chr19 | 11033437 | G | A |
c.3694G>A
|
p.Gly1232Ser
|
- | 4.0 |
|
B | |
| 14998 | chr19 | 11033470 | C | T |
c.3727C>T
|
p.Arg1243Trp
|
- | 3.5 |
|
B | |
| 9963 | chr19 | 11033471 | GGC | G |
c.3733_3734del
|
p.Ala1245LeufsTer13
|
- | 4.0 |
|
B | |
| 33481 | chr19 | 11034184 | A | T |
c.3935A>T
|
p.Glu1312Val
|
- | 3.0 |
|
B | |
| 25559 | chr19 | 11034897 | G | A |
c.3952-17G>A
|
-
|
2.5 |
|
B | ||
| 18181 | chr19 | 11034902 | C | T |
c.3952-12C>T
|
-
|
3.0 |
|
B | ||
| 19120 | chr19 | 11034969 | G | A |
c.4007G>A
|
p.Arg1336His
|
- | 3.0 |
|
B | |
| 8458 | chr19 | 11034977 | G | T |
c.4015G>T
|
p.Glu1339Ter
|
- | 4.0 |
|
B | |
| 7862 | chr19 | 11034986 | G | T |
c.4024G>T
|
p.Glu1342Ter
|
- | 4.0 |
|
B | |
| 26131 | chr19 | 11034998 | T | A |
c.4036T>A
|
p.Trp1346Arg
|
- | 3.0 |
|
B | |
| 27233 | chr19 | 11035043 | G | T |
c.4081G>T
|
p.Glu1361Ter
|
- | 4.0 |
|
B | |
| 15371 | chr19 | 11035149 | C | T |
c.4170+17C>T
|
-
|
2.5 |
|
B | ||
| 21561 | chr19 | 11039503 | C | T |
c.4171-1804C>T
|
-
|
2.5 |
|
B | ||
| 21562 | chr19 | 11039546 | C | T |
c.4171-1761C>T
|
-
|
2.5 |
|
B | ||
| 4939 | chr19 | 11039556 | G | A |
c.4171-1751G>A
|
-
|
3.0 |
|
B | ||
| 8359 | chr19 | 11041349 | C | T |
c.4213C>T
|
p.Arg1405Trp
|
3.0 |
|
B | ||
| 31304 | chr19 | 11041365 | C | G |
c.4229C>G
|
p.Ser1410Ter
|
- | 4.5 |
|
B |