Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7304 | chr4 | 39434665 | AG | A |
c.1282del
|
p.Glu428LysfsTer8
|
- | 3.0 |
|
B | |
| 7305 | chr4 | 39434669 | G | A |
c.1285G>A
|
p.Asp429Asn
|
- | 3.0 |
|
B | |
| 7306 | chr4 | 39434671 | C | A |
c.1287C>A
|
p.Asp429Glu
|
- | 3.0 |
|
B | |
| 29618 | chr4 | 39437955 | C | T |
c.1565C>T
|
p.Pro522Leu
|
3.0 |
|
B | ||
| 30597 | chr4 | 39438004 | T | C |
c.1605+9T>C
|
-
|
- | 3.0 |
|
B | |
| 16712 | chr4 | 39446656 | C | T |
c.1930C>T
|
p.Pro644Ser
|
- | 3.0 |
|
B | |
| 13422 | chr4 | 39446657 | C | T |
c.1931C>T
|
p.Pro644Leu
|
- | 3.0 |
|
B | |
| 16079 | chr4 | 39446701 | G | A |
c.1975G>A
|
p.Asp659Asn
|
- | 3.0 |
|
B | |
| 12715 | chr4 | 39446705 | G | A |
c.1979G>A
|
p.Gly660Glu
|
3.0 |
|
B | ||
| 22444 | chr4 | 39446720 | C | A |
c.1994C>A
|
p.Ser665Ter
|
- | 3.0 |
|
B | |
| 35449 | chr4 | 39446901 | CTACGACCGGCAG | C |
c.2177_2188del
|
p.Tyr726_Gln729del
|
- | 3.0 |
|
B | |
| 11180 | chr4 | 39448497 | TAC | T |
c.2948_2949del
|
p.Thr983ArgfsTer61
|
3.0 |
|
B | ||
| 27639 | chr4 | 40097375 | C | T |
c.35C>T
|
p.Pro12Leu
|
- | 3.0 |
|
B | |
| 15411 | chr4 | 40102219 | G | T |
c.374G>T
|
p.Ser125Ile
|
- | 3.0 |
|
B | |
| 19188 | chr4 | 40102692 | C | G |
c.847C>G
|
p.Pro283Ala
|
- | 3.0 |
|
B | |
| 28899 | chr4 | 40102896 | C | T |
c.1051C>T
|
p.Pro351Ser
|
3.0 |
|
B | ||
| 28478 | chr4 | 40102938 | C | T |
c.1093C>T
|
p.Pro365Ser
|
3.0 |
|
B | ||
| 25804 | chr4 | 40103158 | T | C |
c.1313T>C
|
p.Val438Ala
|
3.0 |
|
B | ||
| 24192 | chr4 | 40103193 | G | T |
c.1348G>T
|
p.Gly450Ter
|
- | 4.0 |
|
B | |
| 13961 | chr4 | 40117928 | G | A |
c.1724G>A
|
p.Arg575His
|
3.0 |
|
B |