Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23072 | chr12 | 6595322 | AC | A |
c.2121+11del
|
-
|
- | 3.0 |
|
B | |
| 5535 | chr12 | 6597893 | C | A |
c.1892+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 1083 | chr12 | 6597989 | C | G |
c.1797G>C
|
p.Lys599Asn
|
- | 3.0 |
|
B | |
| 13996 | chr12 | 6598391 | AG | A |
c.1516del
|
p.Leu506Ter
|
- | 3.0 |
|
B | |
| 26719 | chr12 | 6598430 | G | A |
c.1483-5C>T
|
-
|
1.0 |
|
B | ||
| 21981 | chr12 | 6599756 | T | G |
c.1482+17A>C
|
-
|
3.0 |
|
B | ||
| 441 | chr12 | 6599851 | AGGACAG | A |
c.1398_1403del
|
p.Cys467_Pro468del
|
- | 3.0 |
|
B | |
| 26340 | chr12 | 6601393 | G | A |
c.695C>T
|
p.Ala232Val
|
- | 3.0 |
|
B | |
| 3854 | chr12 | 6601474 | A | C |
c.614T>G
|
p.Leu205Trp
|
- | 3.0 |
|
B | |
| 30633 | chr12 | 6601528 | G | A |
c.560C>T
|
p.Pro187Leu
|
- | 3.0 |
|
B | |
| 8568 | chr12 | 6601730 | C | T |
c.475G>A
|
p.Gly159Ser
|
- | 3.0 |
|
B | |
| 1358 | chr12 | 6602083 | ACTGT | A |
c.311_314del
|
p.Asp104ValfsTer97
|
- | 3.0 |
|
B | |
| 18884 | chr12 | 6602500 | A | G |
c.101-3T>C
|
-
|
3.0 |
|
B | ||
| 25440 | chr12 | 6606351 | G | GTCC |
c.22_23insGGA
|
p.Pro8delinsArgThr
|
- | 3.0 |
|
B | |
| 17884 | chr12 | 6667734 | C | G |
c.1807G>C
-
|
p.Glu603Gln
-
|
- | 3.0 |
|
B | |
| 33618 | chr12 | 6668080 | G | C |
c.1461C>G
-
|
p.Asn487Lys
-
|
- | 3.0 |
|
B | |
| 27618 | chr12 | 6669170 | TTGTGTTGC | T |
c.1278_1285del
|
p.His428ArgfsTer2
|
- | 3.0 |
|
B | |
| 21233 | chr12 | 6670754 | A | ATT |
c.1266+4_1266+5dup
|
-
|
- | 3.0 |
|
B | |
| 20612 | chr12 | 6672332 | C | G |
c.1187+18G>C
|
-
|
- | 3.0 |
|
B | |
| 32827 | chr12 | 6672483 | G | T |
c.1054C>A
|
p.His352Asn
|
- | 3.0 |
|
B |