Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32857 | chr3 | 10028697 | G | A |
c.40G>A
|
p.Glu14Lys
|
3.0 |
|
B | ||
| 18020 | chr3 | 10034454 | C | CT |
c.206-9dup
|
-
|
- | 3.0 |
|
B | |
| 25663 | chr3 | 10034696 | TAATAGAAG | T |
c.279_286del
|
p.Glu94CysfsTer2
|
- | 4.0 |
|
B | |
| 18993 | chr3 | 10035158 | C | CTT |
c.378-6_378-5dup
|
-
|
3.0 |
|
B | ||
| 24134 | chr3 | 10035158 | CT | C |
c.378-5del
|
-
|
3.0 |
|
B | ||
| 19968 | chr3 | 10036327 | A | AT |
c.486dup
|
p.Glu163Ter
|
4.0 |
|
B | ||
| 15761 | chr3 | 10039792 | C | A |
c.642C>A
|
p.Ser214Arg
|
- | 3.0 |
|
B | |
| 16702 | chr3 | 10043483 | G | A |
c.990-1G>A
|
p.?
|
4.5 |
|
B | ||
| 12459 | chr3 | 10043608 | C | A |
c.1098+16C>A
|
-
|
- | 3.0 |
|
B | |
| 32310 | chr3 | 10046582 | G | T |
c.1137G>T
|
p.Val379=
|
1.0 |
|
B | ||
| 32311 | chr3 | 10046659 | A | G |
c.1214A>G
|
p.Asn405Ser
|
1.0 |
|
B | ||
| 8628 | chr3 | 10046722 | TAGTA | T |
c.1278+3_1278+6del
|
-
|
3.5 |
|
B | ||
| 32312 | chr3 | 10046723 | AG | A |
c.1278+1del
|
p.?
|
3.0 |
|
B | ||
| 32313 | chr3 | 10046725 | TAAG | T |
c.1278+3_1278+5del
|
-
|
1.0 |
|
B | ||
| 32314 | chr3 | 10046738 | C | T |
c.1278+15C>T
|
-
|
1.0 |
|
B | ||
| 32315 | chr3 | 10048054 | A | G |
c.1413+3A>G
|
-
|
1.0 |
|
B | ||
| 32316 | chr3 | 10048065 | T | C |
c.1413+14T>C
|
-
|
1.0 |
|
B | ||
| 7555 | chr3 | 10049457 | G | C |
c.1497G>C
|
p.Leu499Phe
|
- | 3.0 |
|
B | |
| 14061 | chr3 | 10052442 | A | G |
c.1601A>G
|
p.Tyr534Cys
|
3.0 |
|
B | ||
| 11657 | chr3 | 10064401 | G | A |
c.1993G>A
|
p.Val665Ile
|
3.0 |
|
B |