Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12963 | chr6 | 32202125 | C | T |
c.3706G>A
|
p.Glu1236Lys
|
- | 3.0 |
|
B | |
| 19595 | chr6 | 32202149 | G | A |
c.3682C>T
|
p.Gln1228Ter
|
- | 3.5 |
|
B | |
| 7443 | chr6 | 32202215 | C | T |
c.3616G>A
|
p.Gly1206Arg
|
3.0 |
|
B | ||
| 19464 | chr6 | 32202250 | G | A |
c.3581C>T
|
p.Pro1194Leu
|
2.5 |
|
B | ||
| 16730 | chr6 | 32202371 | C | T |
c.3460G>A
|
p.Gly1154Ser
|
- | 3.0 |
|
B | |
| 27142 | chr6 | 32204124 | C | T |
c.3118+13G>A
|
-
|
- | 3.0 |
|
B | |
| 8469 | chr6 | 32204136 | C | T |
c.3118+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 8232 | chr6 | 32204242 | C | T |
c.3013G>A
|
p.Gly1005Arg
|
- | 3.0 |
|
B | |
| 11118 | chr6 | 32204311 | T | A |
c.2944A>T
|
p.Thr982Ser
|
- | 3.0 |
|
B | |
| 19193 | chr6 | 32210747 | C | G |
c.2865+5G>C
|
-
|
3.0 |
|
B | ||
| 30163 | chr6 | 32210757 | A | C |
c.2860T>G
|
p.Cys954Gly
|
- | 3.0 |
|
B | |
| 12782 | chr6 | 32210857 | AG | A |
c.2759del
|
p.Pro920LeufsTer12
|
4.0 |
|
B | ||
| 22312 | chr6 | 32212536 | C | T |
c.2618G>A
|
p.Gly873Glu
|
- | 3.0 |
|
B | |
| 6534 | chr6 | 32212619 | C | T |
c.2535G>A
|
p.Met845Ile
|
- | 3.0 |
|
B | |
| 14027 | chr6 | 32213154 | G | A |
c.2419C>T
|
p.Arg807Cys
|
3.0 |
|
B | ||
| 5586 | chr6 | 32213217 | G | A |
c.2356C>T
|
p.Pro786Ser
|
- | 3.0 |
|
B | |
| 9277 | chr6 | 32213780 | G | T |
c.2228C>A
|
p.Ser743Tyr
|
- | 3.0 |
|
B | |
| 28805 | chr6 | 32214253 | G | A |
c.2024C>T
|
p.Ser675Phe
|
3.0 |
|
B | ||
| 20326 | chr6 | 32215233 | A | T |
c.2014T>A
|
p.Cys672Ser
|
- | 3.0 |
|
B | |
| 34941 | chr6 | 32215275 | A | T |
c.1972T>A
|
p.Cys658Ser
|
- | 3.0 |
|
B |