Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28392 | chr11 | 93797620 | C | T |
c.1229C>T
|
p.Pro410Leu
|
- | 3.0 |
|
B | |
| 11107 | chr11 | 93797626 | C | A |
c.1235C>A
|
p.Ala412Asp
|
- | 3.0 |
|
B | |
| 5990 | chr11 | 93797628 | T | G |
c.1237T>G
|
p.Phe413Val
|
- | 3.0 |
|
B | |
| 34719 | chr11 | 93809697 | GTGTCC | G |
c.1585-18_1585-14del
|
-
|
- | 3.0 |
|
B | |
| 9242 | chr11 | 93809778 | T | G |
c.1646T>G
|
p.Leu549Arg
|
- | 3.0 |
|
B | |
| 2113 | chr11 | 93811864 | C | G |
c.1756C>G
|
p.Pro586Ala
|
- | 3.0 |
|
B | |
| 6622 | chr11 | 93811880 | A | G |
c.1772A>G
|
p.Lys591Arg
|
- | 3.0 |
|
B | |
| 34317 | chr11 | 94429900 | T | C |
c.2070+11A>G
|
-
|
- | 3.0 |
|
B | |
| 6741 | chr11 | 94445866 | C | T |
c.1811G>A
|
p.Arg604His
|
2.5 |
|
B | ||
| 13354 | chr11 | 94447230 | T | G |
c.1772A>C
|
p.Gln591Pro
|
3.0 |
|
B | ||
| 13924 | chr11 | 94447251 | G | A |
c.1751C>T
|
p.Ser584Leu
|
3.0 |
|
B | ||
| 13037 | chr11 | 94447285 | C | G |
c.1717G>C
|
p.Gly573Arg
|
- | 3.0 |
|
B | |
| 28064 | chr11 | 94447382 | A | G |
c.1620T>C
|
p.Phe540=
|
3.0 |
|
B | ||
| 18595 | chr11 | 94447445 | G | A |
c.1564-7C>T
|
-
|
2.0 |
|
B | ||
| 22357 | chr11 | 94447446 | G | A |
c.1564-8C>T
|
-
|
2.5 |
|
B | ||
| 19709 | chr11 | 94456306 | AT | A |
c.1532del
|
p.Asn511IlefsTer13
|
3.5 |
|
B | ||
| 5301 | chr11 | 94459446 | G | A |
c.1462C>T
|
p.Arg488Cys
|
2.5 |
|
B | ||
| 15827 | chr11 | 94460944 | C | A |
c.1318G>T
|
p.Ala440Ser
|
3.0 |
|
B | ||
| 8207 | chr11 | 94467805 | G | A |
c.1098+8C>T
|
-
|
- | 3.0 |
|
B | |
| 5637 | chr11 | 94467824 | C | A |
c.1087G>T
|
p.Val363Leu
|
- | 3.0 |
|
B |