Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19351 | chr6 | 134170821 | C | T |
c.1413+5G>A
|
-
|
- | 3.0 |
|
B | |
| 15768 | chr6 | 134170830 | T | C |
c.1409A>G
|
p.Asn470Ser
|
- | 3.0 |
|
B | |
| 33254 | chr6 | 134171181 | G | A |
c.1168-3C>T
|
-
|
- | 3.0 |
|
B | |
| 23134 | chr6 | 134171185 | G | A |
c.1168-7C>T
|
-
|
- | 3.0 |
|
B | |
| 12165 | chr6 | 134172197 | G | A |
c.1067C>T
|
p.Pro356Leu
|
3.0 |
|
B | ||
| 12166 | chr6 | 134172198 | G | A |
c.1066C>T
|
p.Pro356Ser
|
- | 3.0 |
|
B | |
| 29313 | chr6 | 134172220 | T | G |
c.1044A>C
|
p.Thr348=
|
3.0 |
|
B | ||
| 23333 | chr6 | 134172310 | T | C |
c.954A>G
|
p.Leu318=
|
- | 3.0 |
|
B | |
| 32234 | chr6 | 134172689 | T | C |
c.920A>G
|
p.Tyr307Cys
|
- | 3.0 |
|
B | |
| 14727 | chr6 | 134172739 | C | T |
c.870G>A
|
p.Leu290=
|
- | 3.0 |
|
B | |
| 7873 | chr6 | 134172769 | G | C |
c.840C>G
|
p.Phe280Leu
|
- | 3.0 |
|
B | |
| 20836 | chr6 | 134173079 | AGAAGT | A |
c.773_777del
|
p.His258LeufsTer6
|
- | 3.0 |
|
B | |
| 22873 | chr6 | 134173273 | C | T |
c.702+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 33470 | chr6 | 134173301 | C | A |
c.675G>T
|
p.Gln225His
|
- | 3.0 |
|
B | |
| 7684 | chr6 | 134173308 | A | G |
c.668T>C
|
p.Val223Ala
|
- | 3.0 |
|
B | |
| 34897 | chr6 | 134174077 | AGGGCTGCAGGGAATAAAG | A |
c.438-15_440del
|
p.?
|
- | 3.0 |
|
B | |
| 35597 | chr6 | 134175586 | C | T |
c.362-1000G>A
|
-
|
3.0 |
|
B | ||
| 26801 | chr6 | 134175605 | G | A |
c.362-1019C>T
|
-
|
- | 3.0 |
|
B | |
| 22736 | chr6 | 134261859 | C | G |
c.285+74G>C
|
-
|
- | 3.0 |
|
B | |
| 31272 | chr6 | 134261887 | C | G |
c.285+46G>C
|
-
|
- | 3.0 |
|
B |