Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12444 | chr18 | 44952728 | C | A |
c.3388C>A
|
p.Pro1130Thr
|
1.0 |
|
B | ||
| 29359 | chr18 | 44952765 | T | G |
c.3425T>G
|
p.Leu1142Arg
|
- | 3.0 |
|
B | |
| 7402 | chr18 | 44952847 | C | A |
c.3507C>A
|
p.Asn1169Lys
|
- | 3.0 |
|
B | |
| 28869 | chr18 | 44953005 | C | T |
c.3665C>T
|
p.Ser1222Phe
|
- | 3.0 |
|
B | |
| 29733 | chr18 | 44953291 | C | G |
c.3951C>G
|
p.Phe1317Leu
|
2.0 |
|
B | ||
| 1106 | chr18 | 45038655 | G | A |
c.4171G>A
|
p.Val1391Ile
|
- | 3.0 |
|
B | |
| 28928 | chr18 | 45063068 | C | T |
c.4172-11C>T
|
-
|
- | 3.0 |
|
B | |
| 18814 | chr18 | 45063072 | C | T |
c.4172-7C>T
|
-
|
2.0 |
|
B | ||
| 14988 | chr18 | 45063267 | C | T |
c.4360C>T
|
p.Arg1454Cys
|
3.0 |
|
B | ||
| 21412 | chr18 | 45063280 | G | T |
c.4373G>T
|
p.Arg1458Met
|
- | 3.0 |
|
B | |
| 21557 | chr18 | 45063324 | C | T |
c.4417C>T
|
p.Pro1473Ser
|
3.0 |
|
B | ||
| 1582 | chr18 | 45063405 | G | A |
c.4498G>A
|
p.Ala1500Thr
|
2.5 |
|
B | ||
| 14989 | chr18 | 45063439 | C | T |
c.4532C>T
|
p.Ala1511Val
|
3.0 |
|
B | ||
| 33219 | chr18 | 45063447 | C | T |
c.4540C>T
|
p.His1514Tyr
|
3.0 |
|
B | ||
| 14990 | chr18 | 45063463 | C | T |
c.4556C>T
|
p.Ala1519Val
|
- | 3.0 |
|
B | |
| 31692 | chr18 | 45063526 | C | T |
c.4619C>T
|
p.Pro1540Leu
|
2.0 |
|
B | ||
| 24263 | chr18 | 45063532 | C | T |
c.4625C>T
|
p.Pro1542Leu
|
- | 3.0 |
|
B | |
| 33028 | chr18 | 45063563 | G | C |
c.4656G>C
|
p.Lys1552Asn
|
- | 3.0 |
|
B | |
| 6406 | chr18 | 45063577 | C | T |
c.4670C>T
|
p.Pro1557Leu
|
3.0 |
|
B | ||
| 5341 | chr18 | 45063585 | C | A |
c.4678C>A
|
p.Pro1560Thr
|
- | 3.0 |
|
B |