Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23423 | chr1 | 237454491 | C | A |
c.1393C>A
|
p.Pro465Thr
|
- | 3.0 |
|
B | |
| 32199 | chr1 | 237454515 | G | T |
c.1417G>T
|
p.Glu473Ter
|
- | 3.0 |
|
B | |
| 8295 | chr1 | 237454563 | T | G |
c.1465T>G
|
p.Phe489Val
|
- | 3.0 |
|
B | |
| 21065 | chr1 | 237456592 | C | T |
c.1477-8C>T
|
-
|
2.0 |
|
B | ||
| 12496 | chr1 | 237456628 | T | C |
c.1505T>C
|
p.Ile502Thr
|
3.0 |
|
B | ||
| 21724 | chr1 | 237456642 | G | A |
c.1519G>A
|
p.Val507Ile
|
1.0 |
|
B | ||
| 25402 | chr1 | 237456681 | C | T |
c.1558C>T
|
p.Arg520Ter
|
3.0 |
|
B | ||
| 32575 | chr1 | 237456697 | C | T |
c.1574C>T
|
p.Ser525Phe
|
- | 3.0 |
|
B | |
| 34360 | chr1 | 237456734 | G | A |
c.1611G>A
|
p.Leu537=
|
1.0 |
|
B | ||
| 29273 | chr1 | 237469113 | G | A |
c.1634G>A
|
p.Arg545His
|
3.0 |
|
B | ||
| 20721 | chr1 | 237469161 | G | A |
c.1682G>A
|
p.Arg561Lys
|
- | 3.0 |
|
B | |
| 34818 | chr1 | 237469181 | T | A |
c.1702T>A
|
p.Ser568Thr
|
- | 3.0 |
|
B | |
| 22478 | chr1 | 237491807 | C | T |
c.1710C>T
|
p.Gly570=
|
3.0 |
|
B | ||
| 21363 | chr1 | 237491860 | T | A |
c.1763T>A
|
p.Ile588Asn
|
- | 3.0 |
|
B | |
| 24437 | chr1 | 237493002 | C | A |
c.1876C>A
|
p.Arg626Ser
|
- | 3.0 |
|
B | |
| 23424 | chr1 | 237496498 | C | A |
c.1962-13C>A
|
-
|
- | 3.0 |
|
B | |
| 13126 | chr1 | 237496498 | C | T |
c.1962-13C>T
|
-
|
2.0 |
|
B | ||
| 35667 | chr1 | 237500747 | A | C |
c.2240A>C
|
p.His747Pro
|
- | 3.0 |
|
B | |
| 25076 | chr1 | 237500758 | A | C |
c.2251A>C
|
p.Thr751Pro
|
- | 3.0 |
|
B | |
| 12892 | chr1 | 237500783 | T | A |
c.2276T>A
|
p.Leu759Ter
|
- | 3.0 |
|
B |