Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34393 | chr6 | 29942594 | C | A |
c.41C>A
|
p.Ser14Ter
|
3.5 |
|
B | ||
| 26701 | chr6 | 29942601 | C | T |
c.48C>T
|
p.Ala16=
|
2.0 |
|
B | ||
| 23612 | chr6 | 29942616 | GACCT | G |
c.64_67del
|
p.Thr22GlyfsTer7
|
- | 3.5 |
|
B | |
| 11816 | chr6 | 29942640 | C | T |
c.73+14C>T
|
-
|
- | 3.0 |
|
B | |
| 34233 | chr6 | 29942795 | C | T |
c.112C>T
|
p.Arg38Trp
|
3.0 |
|
B | ||
| 5426 | chr6 | 29942825 | G | A |
c.142G>A
|
p.Ala48Thr
|
3.0 |
|
B | ||
| 23825 | chr6 | 29943338 | G | C |
c.414G>C
|
p.Arg138=
|
2.0 |
|
B | ||
| 26702 | chr6 | 29943342 | G | T |
c.418G>T
|
p.Asp140Tyr
|
2.0 |
|
B | ||
| 34829 | chr6 | 29943377 | C | A |
c.453C>A
|
p.Asn151Lys
|
1.5 |
|
B | ||
| 33794 | chr6 | 29943385 | TGCGCTCTTGGACCGCGGCGGACATGGCGGCTCAGATCACCAAGCGCAAGTG | T |
c.463_513del
|
p.Arg155_Trp171del
|
- | 3.0 |
|
B | |
| 26703 | chr6 | 29943421 | T | C |
c.497T>C
|
p.Ile166Thr
|
2.5 |
|
B | ||
| 34223 | chr6 | 29943426 | A | C |
c.502A>C
|
p.Lys168Gln
|
1.0 |
|
B | ||
| 26704 | chr6 | 29943430 | G | A |
c.506G>A
|
p.Arg169His
|
2.5 |
|
B | ||
| 739 | chr6 | 29943543 | G | C |
c.619G>C
|
p.Asp207His
|
3.0 |
|
B | ||
| 26495 | chr6 | 29944226 | C | T |
c.724C>T
|
p.Gln242Ter
|
- | 3.5 |
|
B | |
| 20323 | chr6 | 29944289 | G | A |
c.787G>A
|
p.Gly263Arg
|
- | 3.0 |
|
B | |
| 26705 | chr6 | 29944308 | C | T |
c.806C>T
|
p.Ala269Val
|
3.0 |
|
B | ||
| 26706 | chr6 | 29944370 | C | T |
c.868C>T
|
p.Leu290=
|
2.5 |
|
B | ||
| 18576 | chr6 | 29944488 | C | T |
c.896-12C>T
|
-
|
3.0 |
|
B | ||
| 31022 | chr6 | 29944644 | GAGATTTCTTGTCTCACTGAGGGTTCCAAGCCCCAGCTAGAAA | G |
c.1012+29_1012+70del
|
-
|
- | 3.0 |
|
B |