Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31404 | chr6 | 135202541 | A | T |
c.2062-676A>T
|
-
|
3.0 |
|
B | ||
| 30560 | chr6 | 135202565 | T | A |
c.2062-652T>A
|
-
|
- | 3.0 |
|
B | |
| 17839 | chr6 | 135202601 | CAG | C |
c.2062-615_2062-614del
|
-
|
- | 3.0 |
|
B | |
| 26273 | chr6 | 135202619 | C | T |
c.2062-598C>T
|
-
|
3.0 |
|
B | ||
| 26274 | chr6 | 135202636 | A | G |
c.2062-581A>G
|
-
|
1.0 |
|
B | ||
| 26802 | chr6 | 135217849 | C | T |
c.2170-15C>T
|
-
|
- | 3.0 |
|
B | |
| 8547 | chr6 | 135217937 | G | A |
c.2243G>A
|
p.Arg748His
|
3.0 |
|
B | ||
| 20225 | chr6 | 135851858 | CTT | C |
c.-129_-128del
|
-
|
3.0 |
|
B | ||
| 27251 | chr6 | 136267147 | C | T |
c.2426G>A
|
p.Arg809Lys
|
- | 3.0 |
|
B | |
| 31273 | chr6 | 136268144 | G | C |
c.2397+18C>G
|
-
|
- | 3.0 |
|
B | |
| 14068 | chr6 | 136268287 | G | T |
c.2272C>A
|
p.Pro758Thr
|
2.0 |
|
B | ||
| 12498 | chr6 | 136268293 | C | T |
c.2266G>A
|
p.Ala756Thr
|
3.0 |
|
B | ||
| 2378 | chr6 | 136268343 | C | T |
c.2220-4G>A
|
-
|
3.0 |
|
B | ||
| 2379 | chr6 | 136268344 | A | C |
c.2220-5T>G
|
-
|
3.0 |
|
B | ||
| 9461 | chr6 | 136269537 | C | A |
c.2119G>T
|
p.Glu707Ter
|
- | 3.0 |
|
B | |
| 10608 | chr6 | 136275565 | G | A |
c.1819C>T
|
p.Gln607Ter
|
- | 3.0 |
|
B | |
| 29467 | chr6 | 136275717 | A | AAC |
c.1683-18_1683-17dup
|
-
|
3.0 |
|
B | ||
| 12167 | chr6 | 136275919 | T | G |
c.1606A>C
|
p.Lys536Gln
|
- | 3.0 |
|
B | |
| 9552 | chr6 | 136278113 | A | AT |
c.767dup
|
p.Asn256LysfsTer13
|
3.0 |
|
B | ||
| 24715 | chr6 | 136278144 | G | A |
c.737C>T
|
p.Pro246Leu
|
3.0 |
|
B |