Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32164 | chr6 | 41684942 | C | T |
c.1088G>A
|
p.Gly363Glu
|
3.0 |
|
B | ||
| 14015 | chr6 | 41687077 | C | T |
c.803+17G>A
|
-
|
- | 3.0 |
|
B | |
| 22438 | chr6 | 41687137 | G | A |
c.760C>T
|
p.Arg254Cys
|
3.0 |
|
B | ||
| 14856 | chr6 | 41687734 | G | A |
c.727+19C>T
|
-
|
- | 3.0 |
|
B | |
| 35496 | chr6 | 41687802 | CTCAGCA | C |
c.672_677del
|
p.Asp224_Ala225del
|
- | 3.0 |
|
B | |
| 20660 | chr6 | 41687813 | G | C |
c.671-4C>G
|
-
|
- | 3.0 |
|
B | |
| 34334 | chr6 | 41687823 | G | A |
c.671-14C>T
|
-
|
- | 3.0 |
|
B | |
| 19597 | chr6 | 41691091 | TTGC | T |
c.120_122del
|
p.Gln44del
|
3.0 |
|
B | ||
| 29053 | chr6 | 41691192 | G | A |
c.22C>T
|
p.Arg8Cys
|
- | 3.0 |
|
B | |
| 30904 | chr6 | 41935969 | G | A |
-
c.850C>T
|
-
p.Pro284Ser
|
3.0 |
|
B | ||
| 1255 | chr6 | 41935974 | C | T |
-
c.845G>A
|
-
p.Ser282Asn
|
- | 3.0 |
|
B | |
| 17778 | chr6 | 41936004 | C | T |
-
c.815G>A
|
-
p.Gly272Asp
|
3.0 |
|
B | ||
| 10285 | chr6 | 41936024 | T | A |
-
c.795A>T
|
-
p.Pro265=
|
- | 3.0 |
|
B | |
| 15449 | chr6 | 41937228 | C | CTCT |
-
c.574+4_574+6dup
|
-
-
|
- | 3.0 |
|
B | |
| 27624 | chr6 | 41941481 | G | A |
c.169C>T
|
p.Arg57Trp
|
- | 3.0 |
|
B | |
| 4494 | chr6 | 43262914 | C | T |
c.1550C>T
|
p.Ser517Phe
|
- | 3.0 |
|
B | |
| 4672 | chr6 | 43551450 | T | A |
c.1576A>T
|
p.Ile526Phe
|
- | 3.0 |
|
B | |
| 4673 | chr6 | 43553503 | G | A |
c.1442C>T
|
p.Ser481Phe
|
- | 3.0 |
|
B | |
| 3243 | chr6 | 43582428 | G | C |
c.109G>C
|
p.Val37Leu
|
- | 3.0 |
|
B | |
| 15765 | chr6 | 43582453 | G | T |
c.134G>T
|
p.Gly45Val
|
- | 3.0 |
|
B |