Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11867 | chr19 | 10823905 | G | A |
c.1893+6G>A
|
-
|
3.0 |
|
B | ||
| 17812 | chr19 | 10829025 | C | G |
c.2059-11C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 23103 | chr19 | 10829102 | A | G |
c.2125A>G
-
|
p.Met709Val
-
|
3.0 |
|
B | ||
| 27518 | chr19 | 10829115 | C | T |
c.2138C>T
-
|
p.Ala713Val
-
|
3.0 |
|
B | ||
| 17813 | chr19 | 10829211 | C | T |
c.2234C>T
-
|
p.Ser745Phe
-
|
- | 3.0 |
|
B | |
| 12542 | chr19 | 10829255 | G | A |
c.2278G>A
-
|
p.Ala760Thr
-
|
2.5 |
|
B | ||
| 29041 | chr19 | 10830233 | G | C |
c.2398G>C
-
|
p.Ala800Pro
-
|
- | 3.0 |
|
B | |
| 18180 | chr19 | 10830968 | C | T |
c.2544-10C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 24537 | chr19 | 10833063 | G | C |
-
c.616C>G
|
-
p.Leu206Val
|
- | 3.0 |
|
B | |
| 34304 | chr19 | 10833132 | G | A |
-
c.547C>T
|
-
p.Arg183Cys
|
3.0 |
|
B | ||
| 10910 | chr19 | 10871843 | C | G |
c.141C>G
-
|
p.Ile47Met
-
|
3.0 |
|
B | ||
| 8817 | chr19 | 10905005 | G | A |
c.275G>A
|
p.Arg92His
|
- | 3.0 |
|
B | |
| 24487 | chr19 | 10905089 | C | T |
c.346+13C>T
|
-
|
3.0 |
|
B | ||
| 13155 | chr19 | 10909085 | G | A |
c.454-18G>A
|
-
|
3.0 |
|
B | ||
| 7517 | chr19 | 10912206 | G | A |
c.581G>A
|
p.Gly194Asp
|
- | 3.0 |
|
B | |
| 911 | chr19 | 10912230 | C | T |
c.605C>T
|
p.Ala202Val
|
3.0 |
|
B | ||
| 10588 | chr19 | 10914027 | C | A |
c.820C>A
|
p.His274Asn
|
- | 3.0 |
|
B | |
| 9683 | chr19 | 10916493 | T | C |
c.934T>C
|
p.Phe312Leu
|
- | 3.0 |
|
B | |
| 13934 | chr19 | 10916736 | C | T |
c.979C>T
|
p.Arg327Ter
|
3.0 |
|
B | ||
| 20470 | chr19 | 10919680 | G | A |
c.1106G>A
-
|
p.Arg369Lys
-
|
- | 3.0 |
|
B |