Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1497 | chr3 | 52627345 | C | G |
c.1469G>C
|
p.Arg490Thr
|
- | 3.0 |
|
B | |
| 2247 | chr3 | 52628937 | G | C |
c.1400C>G
|
p.Ser467Ter
|
- | 4.0 |
|
B | |
| 1515 | chr3 | 52634683 | G | A |
c.1220C>T
|
p.Pro407Leu
|
3.0 |
|
B | ||
| 32985 | chr3 | 52634755 | G | C |
c.1148C>G
|
p.Ser383Ter
|
- | 4.0 |
|
B | |
| 5358 | chr3 | 52641977 | C | T |
c.1064G>A
|
p.Ser355Asn
|
3.0 |
|
B | ||
| 30356 | chr3 | 52642020 | G | A |
c.1021C>T
|
p.Arg341Cys
|
3.0 |
|
B | ||
| 21923 | chr3 | 52642035 | C | A |
c.1006G>T
|
p.Ala336Ser
|
- | 3.0 |
|
B | |
| 5359 | chr3 | 52642046 | C | G |
c.996-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 22436 | chr3 | 52642048 | AC | A |
c.996-4del
|
-
|
3.0 |
|
B | ||
| 4004 | chr3 | 52642050 | A | T |
c.996-5T>A
|
-
|
3.0 |
|
B | ||
| 19139 | chr3 | 52644704 | C | A |
c.899G>T
|
p.Arg300Met
|
- | 3.0 |
|
B | |
| 34969 | chr3 | 52644767 | A | AT |
c.835dup
|
p.Ile279AsnfsTer8
|
- | 4.0 |
|
B | |
| 1595 | chr3 | 52648383 | A | AT |
c.773dup
|
p.Asn258LysfsTer6
|
- | 4.0 |
|
B | |
| 1603 | chr3 | 52648420 | T | C |
c.737A>G
|
p.His246Arg
|
3.0 |
|
B | ||
| 28741 | chr3 | 52658221 | AAAAGTTCGCT | A |
c.613_622del
|
p.Ser205PhefsTer16
|
- | 4.0 |
|
B | |
| 3506 | chr3 | 52658316 | C | A |
c.529-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 34260 | chr3 | 52662162 | GC | G |
c.498del
|
p.Gln167LysfsTer7
|
- | 4.0 |
|
B | |
| 15293 | chr3 | 52662273 | C | G |
c.388G>C
|
p.Asp130His
|
- | 3.0 |
|
B | |
| 19557 | chr3 | 52662294 | GA | G |
c.385-19del
|
-
|
2.0 |
|
B | ||
| 20211 | chr3 | 52662294 | GAA | G |
c.385-20_385-19del
|
-
|
3.0 |
|
B |