Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15157 | chr1 | 3425573 | C | A |
c.2940-8C>A
|
-
|
- | 3.0 |
|
B | |
| 15871 | chr1 | 3425597 | C | T |
c.2956C>T
|
p.Arg986Cys
|
- | 3.0 |
|
B | |
| 29198 | chr1 | 3425601 | C | T |
c.2960C>T
|
p.Ser987Phe
|
- | 3.0 |
|
B | |
| 12402 | chr1 | 3425715 | G | A |
c.3074G>A
|
p.Arg1025Gln
|
3.0 |
|
B | ||
| 30052 | chr1 | 3425729 | C | T |
c.3088C>T
|
p.His1030Tyr
|
3.0 |
|
B | ||
| 35229 | chr1 | 3426046 | C | T |
c.3110-5C>T
|
-
|
2.0 |
|
B | ||
| 34410 | chr1 | 3426146 | G | T |
c.3205G>T
|
p.Glu1069Ter
|
- | 3.0 |
|
B | |
| 23011 | chr1 | 3426151 | C | G |
c.3210C>G
|
p.Asp1070Glu
|
- | 3.0 |
|
B | |
| 24070 | chr1 | 3426226 | G | A |
c.3284+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 30053 | chr1 | 3430942 | G | A |
c.3355G>A
|
p.Glu1119Lys
|
3.0 |
|
B | ||
| 28340 | chr1 | 3431074 | G | A |
c.3487G>A
|
p.Ala1163Thr
|
3.0 |
|
B | ||
| 31095 | chr1 | 3431988 | G | A |
c.3544G>A
|
p.Gly1182Ser
|
3.0 |
|
B | ||
| 18040 | chr1 | 3432048 | G | A |
c.3604G>A
|
p.Ala1202Thr
|
- | 3.0 |
|
B | |
| 16564 | chr1 | 3433662 | T | A |
c.3697-15T>A
|
-
|
- | 3.0 |
|
B | |
| 12233 | chr1 | 3766607 | C | T |
c.1525C>T
|
p.Arg509Ter
|
3.0 |
|
B | ||
| 4615 | chr1 | 3857720 | G | C |
-
c.114+3G>C
|
-
-
|
- | 3.0 |
|
B | |
| 4616 | chr1 | 6136643 | G | A |
c.2575-5C>T
|
-
|
- | 3.0 |
|
B | |
| 27442 | chr1 | 6186733 | C | T |
c.326G>A
|
p.Ser109Asn
|
- | 3.0 |
|
B | |
| 12103 | chr1 | 6192958 | C | T |
c.214G>A
|
p.Val72Met
|
- | 3.0 |
|
B | |
| 31873 | chr1 | 6193054 | C | G |
c.118G>C
|
p.Glu40Gln
|
- | 3.0 |
|
B |