Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21482 | chr6 | 151365643 | C | T |
c.1423G>A
|
p.Val475Ile
|
- | 3.0 |
|
B | |
| 7109 | chr6 | 151365651 | T | A |
c.1415A>T
|
p.Asn472Ile
|
- | 3.0 |
|
B | |
| 10079 | chr6 | 151365853 | C | G |
c.1213G>C
|
p.Ala405Pro
|
- | 3.0 |
|
B | |
| 2103 | chr6 | 151366030 | T | C |
c.1036A>G
|
p.Ile346Val
|
- | 3.0 |
|
B | |
| 16740 | chr6 | 151366207 | C | T |
c.859G>A
|
p.Gly287Arg
|
- | 3.0 |
|
B | |
| 1862 | chr6 | 151366237 | T | C |
c.829A>G
|
p.Thr277Ala
|
- | 3.0 |
|
B | |
| 12274 | chr6 | 151366392 | G | A |
c.674C>T
|
p.Ser225Phe
|
- | 3.0 |
|
B | |
| 13186 | chr6 | 151366519 | T | A |
c.547A>T
|
p.Asn183Tyr
|
- | 3.0 |
|
B | |
| 7643 | chr6 | 151366699 | C | T |
c.367G>A
|
p.Asp123Asn
|
- | 3.0 |
|
B | |
| 7082 | chr6 | 151366729 | G | A |
c.337C>T
|
p.Leu113Phe
|
- | 3.0 |
|
B | |
| 9869 | chr6 | 151807878 | GGACACGGTCTGCACCCTGCCCGCGGCCACGGACC | G |
c.-34_-1del
|
-
|
- | 3.0 |
|
B | |
| 14726 | chr6 | 151807945 | G | A |
c.33G>A
|
p.Gly11=
|
- | 3.0 |
|
B | |
| 9492 | chr6 | 151808084 | G | A |
c.172G>A
|
p.Ala58Thr
|
3.0 |
|
B | ||
| 14142 | chr6 | 151808105 | G | A |
c.193G>A
|
p.Ala65Thr
|
3.0 |
|
B | ||
| 20332 | chr6 | 151808131 | C | T |
c.219C>T
|
p.Tyr73=
|
3.0 |
|
B | ||
| 20333 | chr6 | 151808139 | C | T |
c.227C>T
|
p.Thr76Ile
|
- | 3.0 |
|
B | |
| 12090 | chr6 | 151808152 | C | T |
c.240C>T
|
p.Tyr80=
|
- | 3.0 |
|
B | |
| 10583 | chr6 | 151808298 | C | T |
c.386C>T
|
p.Pro129Leu
|
3.0 |
|
B | ||
| 25667 | chr6 | 151808371 | G | A |
c.452+7G>A
|
-
|
3.0 |
|
B | ||
| 13521 | chr6 | 151842581 | GT | G |
c.453-9del
|
-
|
2.5 |
|
B |