Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25575 | chr11 | 95831227 | C | G |
-
c.1474C>G
|
-
p.Gln492Glu
|
- | 3.0 |
|
B | |
| 35523 | chr11 | 95836216 | C | A |
c.1702G>T
-
|
p.Ala568Ser
-
|
- | 3.0 |
|
B | |
| 12929 | chr11 | 95979375 | G | A |
-
|
-
|
-
|
3.0 |
|
B | |
| 31370 | chr11 | 95979454 | C | G |
c.2965G>C
|
p.Gly989Arg
|
- | 3.0 |
|
B | |
| 6616 | chr11 | 95979798 | G | A |
c.2621C>T
|
p.Pro874Leu
|
- | 3.0 |
|
B | |
| 22764 | chr11 | 95979882 | G | A |
c.2537C>T
|
p.Ser846Phe
|
3.0 |
|
B | ||
| 5130 | chr11 | 95991638 | A | G |
c.2225T>C
|
p.Met742Thr
|
- | 3.0 |
|
B | |
| 1624 | chr11 | 96091920 | C | G |
c.2111G>C
|
p.Gly704Ala
|
- | 3.0 |
|
B | |
| 19886 | chr11 | 96092210 | TTGCTGCTGCTGC | T |
c.1809_1820del
|
p.Gln618_Gln621del
|
2.0 |
|
B | ||
| 5488 | chr11 | 96092447 | G | A |
c.1584C>T
|
p.Val528=
|
3.0 |
|
B | ||
| 31132 | chr11 | 96092488 | ACATGTAGTTAGC | A |
c.1531_1542del
|
p.Ala511_Met514del
|
- | 3.0 |
|
B | |
| 3053 | chr11 | 96092795 | A | G |
c.1236T>C
|
p.Ala412=
|
- | 3.0 |
|
B | |
| 21322 | chr11 | 96092863 | C | A |
c.1168G>T
|
p.Ala390Ser
|
- | 3.0 |
|
B | |
| 24500 | chr11 | 96092901 | G | A |
c.1130C>T
|
p.Ser377Leu
|
3.0 |
|
B | ||
| 9634 | chr11 | 96093050 | C | A |
c.981G>T
|
p.Glu327Asp
|
- | 3.0 |
|
B | |
| 14302 | chr11 | 96341363 | T | G |
c.513+20A>C
|
-
|
- | 3.0 |
|
B | |
| 32499 | chr11 | 96341395 | T | G |
c.501A>C
|
p.Ser167=
|
- | 3.0 |
|
B | |
| 13524 | chr11 | 96341446 | T | C |
c.450A>G
|
p.Ile150Met
|
- | 3.0 |
|
B | |
| 9746 | chr11 | 96341493 | G | T |
c.403C>A
|
p.Gln135Lys
|
- | 3.0 |
|
B | |
| 6502 | chr11 | 96341821 | C | T |
c.75G>A
|
p.Gly25=
|
- | 3.0 |
|
B |