Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22643 | chr3 | 37020351 | C | T |
c.926C>T
|
p.Pro309Leu
|
- | 3.0 |
|
B | |
| 29842 | chr3 | 37020441 | C | T |
c.1016C>T
|
p.Ser339Phe
|
- | 3.0 |
|
B | |
| 10845 | chr3 | 37020479 | A | C |
c.1038+16A>C
|
-
|
2.0 |
|
B | ||
| 612 | chr3 | 37025702 | G | A |
c.1104G>A
|
p.Ser368=
|
2.0 |
|
B | ||
| 5355 | chr3 | 37025704 | C | A |
c.1106C>A
|
p.Ser369Tyr
|
3.0 |
|
B | ||
| 1374 | chr3 | 37025739 | C | T |
c.1141C>T
|
p.His381Tyr
|
3.0 |
|
B | ||
| 14035 | chr3 | 37025766 | G | A |
c.1168G>A
|
p.Glu390Lys
|
3.0 |
|
B | ||
| 14633 | chr3 | 37025841 | G | A |
c.1243G>A
|
p.Asp415Asn
|
2.5 |
|
B | ||
| 6735 | chr3 | 37025867 | G | T |
c.1269G>T
|
p.Arg423Ser
|
- | 3.0 |
|
B | |
| 22223 | chr3 | 37025913 | G | A |
c.1315G>A
|
p.Glu439Lys
|
3.0 |
|
B | ||
| 24119 | chr3 | 37028770 | T | G |
c.1410-14T>G
|
-
|
- | 2.5 |
|
B | |
| 19910 | chr3 | 37028902 | C | T |
c.1528C>T
|
p.Gln510Ter
|
4.0 |
|
B | ||
| 9015 | chr3 | 37040282 | C | T |
c.1655C>T
|
p.Thr552Ile
|
- | 3.0 |
|
B | |
| 23859 | chr3 | 37042265 | C | A |
c.1668-3C>A
|
-
|
3.0 |
|
B | ||
| 22804 | chr3 | 37042275 | C | A |
c.1675C>A
|
p.Leu559Met
|
2.5 |
|
B | ||
| 11027 | chr3 | 37042305 | G | C |
c.1705G>C
|
p.Ala569Pro
|
- | 3.0 |
|
B | |
| 17545 | chr3 | 37042324 | G | T |
c.1724G>T
|
p.Arg575Met
|
- | 3.0 |
|
B | |
| 21505 | chr3 | 37042332 | G | T |
c.1731+1G>T
|
p.?
|
4.5 |
|
B | ||
| 16173 | chr3 | 37047631 | TGAA | T |
c.1852_1854del
-
|
p.Lys618del
-
|
3.0 |
|
B | ||
| 4220 | chr3 | 37048548 | T | C |
c.1928T>C
-
|
p.Ile643Thr
-
|
3.0 |
|
B |