Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32583 | chr12 | 124346842 | G | A |
c.4081C>T
|
p.Arg1361Trp
|
3.0 |
|
B | ||
| 26576 | chr12 | 124348162 | C | T |
c.3985+12G>A
|
-
|
3.0 |
|
B | ||
| 34161 | chr12 | 124348248 | G | A |
c.3911C>T
|
p.Thr1304Met
|
2.5 |
|
B | ||
| 23699 | chr12 | 124348317 | G | A |
c.3845-3C>T
|
-
|
- | 3.0 |
|
B | |
| 32426 | chr12 | 124350602 | C | T |
c.3829G>A
|
p.Val1277Ile
|
3.0 |
|
B | ||
| 26721 | chr12 | 124354073 | C | A |
c.3693+20G>T
|
-
|
2.0 |
|
B | ||
| 33479 | chr12 | 124354480 | C | A |
c.3587G>T
|
p.Arg1196Ile
|
- | 3.0 |
|
B | |
| 32644 | chr12 | 124354516 | A | C |
c.3551T>G
|
p.Leu1184Arg
|
- | 3.0 |
|
B | |
| 7721 | chr12 | 124354559 | C | A |
c.3508G>T
|
p.Glu1170Ter
|
- | 3.5 |
|
B | |
| 8671 | chr12 | 124354938 | C | T |
c.3383G>A
|
p.Gly1128Glu
|
3.5 |
|
B | ||
| 22922 | chr12 | 124354940 | C | T |
c.3382-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 29653 | chr12 | 124355500 | G | A |
c.3313C>T
|
p.Pro1105Ser
|
- | 3.0 |
|
B | |
| 21408 | chr12 | 124355535 | C | A |
c.3278G>T
|
p.Arg1093Leu
|
- | 3.0 |
|
B | |
| 7891 | chr12 | 124355535 | CGGGCAGTGTCATGGAGGCCCAG | C |
c.3256_3277del
|
p.Leu1086GlyfsTer30
|
- | 3.5 |
|
B | |
| 35507 | chr12 | 124355543 | GTCAT | G |
c.3266_3269del
|
p.His1089ProfsTer33
|
- | 4.0 |
|
B | |
| 7980 | chr12 | 124355571 | C | G |
c.3242G>C
|
p.Gly1081Ala
|
- | 3.5 |
|
B | |
| 16300 | chr12 | 124356626 | G | A |
c.3241+16C>T
|
-
|
3.0 |
|
B | ||
| 16110 | chr12 | 124356704 | C | T |
c.3179G>A
|
p.Arg1060His
|
3.0 |
|
B | ||
| 19674 | chr12 | 124356704 | CG | C |
c.3178del
|
p.Arg1060ValfsTer3
|
4.0 |
|
B | ||
| 8193 | chr12 | 124356716 | G | A |
c.3167C>T
|
p.Pro1056Leu
|
- | 3.0 |
|
B |