Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2257 | chr6 | 151842613 | C | T |
c.469C>T
|
p.Arg157Ter
|
3.0 |
|
B | ||
| 19475 | chr6 | 151842707 | G | A |
c.563G>A
|
p.Cys188Tyr
|
- | 3.0 |
|
B | |
| 16205 | chr6 | 151842734 | ATGGAGTC | A |
c.594_600del
|
p.Val199ProfsTer50
|
- | 3.0 |
|
B | |
| 8424 | chr6 | 151842740 | T | A |
c.596T>A
|
p.Val199Asp
|
- | 3.0 |
|
B | |
| 4985 | chr6 | 151842788 | G | A |
c.643+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 35232 | chr6 | 151842806 | C | T |
c.643+19C>T
|
-
|
3.0 |
|
B | ||
| 11818 | chr6 | 151944194 | G | A |
c.782G>A
|
p.Gly261Glu
|
- | 3.0 |
|
B | |
| 8451 | chr6 | 151944296 | C | A |
c.884C>A
|
p.Pro295Gln
|
- | 3.0 |
|
B | |
| 11988 | chr6 | 151944400 | G | A |
c.988G>A
|
p.Glu330Lys
|
3.0 |
|
B | ||
| 7558 | chr6 | 151944412 | A | T |
c.1000A>T
|
p.Thr334Ser
|
3.0 |
|
B | ||
| 3591 | chr6 | 151944460 | G | T |
c.1048G>T
|
p.Ala350Ser
|
- | 3.0 |
|
B | |
| 30328 | chr6 | 151944472 | C | G |
c.1060C>G
|
p.Leu354Val
|
- | 3.0 |
|
B | |
| 12992 | chr6 | 151944519 | G | A |
c.1096+11G>A
|
-
|
3.0 |
|
B | ||
| 29277 | chr6 | 151944524 | G | A |
c.1096+16G>A
|
-
|
1.0 |
|
B | ||
| 296 | chr6 | 152011697 | G | C |
c.1138G>C
|
p.Glu380Gln
|
4.33 |
|
A | ||
| 5277 | chr6 | 152011724 | A | G |
c.1165A>G
|
p.Ile389Val
|
- | 3.0 |
|
B | |
| 15957 | chr6 | 152011733 | G | A |
c.1174G>A
|
p.Val392Ile
|
3.0 |
|
B | ||
| 6177 | chr6 | 152011739 | C | T |
c.1180C>T
|
p.Arg394Cys
|
- | 3.0 |
|
B | |
| 33298 | chr6 | 152060981 | G | T |
c.1236-10G>T
|
-
|
- | 3.0 |
|
B | |
| 26403 | chr6 | 152061016 | ATGG | A |
c.1265_1267del
|
p.Val422del
|
- | 3.5 |
|
B |