Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30464 | chr12 | 25245353 | G | GCTC |
c.29_31dup
|
p.Gly10dup
|
- | 3.5 |
|
B | |
| 27420 | chr12 | 25245359 | A | G |
c.26T>C
|
p.Val9Ala
|
- | 3.0 |
|
B | |
| 901 | chr12 | 25245365 | A | G |
c.20T>C
|
p.Val7Ala
|
- | 3.0 |
|
B | |
| 30701 | chr12 | 31791992 | C | T |
c.175G>A
|
p.Glu59Lys
|
3.0 |
|
B | ||
| 23730 | chr12 | 31792022 | G | A |
c.145C>T
|
p.Arg49Ter
|
3.0 |
|
B | ||
| 7360 | chr12 | 31792030 | A | G |
c.137T>C
|
p.Val46Ala
|
3.0 |
|
B | ||
| 506 | chr12 | 31792031 | C | T |
c.136G>A
|
p.Val46Met
|
- | 3.0 |
|
B | |
| 29650 | chr12 | 31792072 | G | A |
c.95C>T
|
p.Ser32Phe
|
3.0 |
|
B | ||
| 11785 | chr12 | 31792130 | C | T |
c.37G>A
|
p.Gly13Ser
|
1.5 |
|
B | ||
| 22914 | chr12 | 31792156 | G | A |
c.11C>T
|
p.Thr4Ile
|
- | 3.0 |
|
B | |
| 16241 | chr12 | 31792159 | C | T |
c.8G>A
|
p.Arg3Gln
|
- | 3.0 |
|
B | |
| 28916 | chr12 | 32792723 | G | A |
c.2366C>T
|
p.Ser789Phe
|
- | 3.0 |
|
B | |
| 24501 | chr12 | 32796217 | G | C |
c.2249C>G
|
p.Ser750Cys
|
- | 3.0 |
|
B | |
| 20562 | chr12 | 32796308 | G | A |
c.2168-10C>T
|
-
|
2.0 |
|
B | ||
| 19661 | chr12 | 32796308 | GA | G |
c.2168-11del
|
-
|
2.0 |
|
B | ||
| 4094 | chr12 | 32802409 | C | T |
c.2161G>A
|
p.Glu721Lys
|
- | 3.0 |
|
B | |
| 23958 | chr12 | 32821508 | G | A |
c.1861C>T
|
p.Pro621Ser
|
3.0 |
|
B | ||
| 9939 | chr12 | 32821532 | G | T |
c.1840-3C>A
|
-
|
- | 3.0 |
|
B | |
| 24570 | chr12 | 32822466 | C | T |
c.1839+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 8332 | chr12 | 32822627 | G | C |
c.1679C>G
|
p.Thr560Arg
|
- | 3.0 |
|
B |