Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21362 | chr1 | 204526387 | A | C |
c.106A>C
|
p.Ile36Leu
|
- | 3.0 |
|
B | |
| 9775 | chr1 | 204537442 | C | CTCTCGCTCTCGCACAGGATCACAGTATGGATATTCCAAG |
c.359_397dup
|
p.Leu120_Ser132dup
|
- | 3.0 |
|
B | |
| 5610 | chr1 | 204542804 | T | G |
c.532T>G
|
p.Leu178Val
|
- | 3.0 |
|
B | |
| 5694 | chr1 | 204542881 | A | G |
c.609A>G
|
p.Leu203=
|
3.0 |
|
B | ||
| 638 | chr1 | 204546851 | G | A |
c.877G>A
|
p.Asp293Asn
|
3.0 |
|
B | ||
| 33606 | chr1 | 204546897 | A | G |
c.903+20A>G
|
-
|
1.0 |
|
B | ||
| 27571 | chr1 | 204549218 | T | G |
c.1009T>G
|
p.Leu337Val
|
- | 3.0 |
|
B | |
| 15791 | chr1 | 204549309 | C | T |
c.1100C>T
|
p.Ser367Leu
|
3.0 |
|
B | ||
| 9059 | chr1 | 204549314 | C | T |
c.1105C>T
|
p.Pro369Ser
|
3.0 |
|
B | ||
| 15313 | chr1 | 204549386 | G | A |
c.1177G>A
|
p.Glu393Lys
|
- | 3.0 |
|
B | |
| 4811 | chr1 | 205059254 | G | A |
c.658G>A
|
p.Val220Ile
|
3.0 |
|
B | ||
| 3518 | chr1 | 205810347 | G | A |
c.95C>T
|
p.Pro32Leu
|
- | 3.0 |
|
B | |
| 22250 | chr1 | 206473246 | T | C |
c.19T>C
|
p.Tyr7His
|
- | 3.0 |
|
B | |
| 12616 | chr1 | 206474319 | C | T |
c.88-12C>T
|
-
|
- | 3.0 |
|
B | |
| 10221 | chr1 | 206476333 | G | T |
c.511G>T
|
p.Val171Phe
|
- | 3.0 |
|
B | |
| 27342 | chr1 | 206476351 | G | C |
c.529G>C
|
p.Glu177Gln
|
- | 3.0 |
|
B | |
| 7682 | chr1 | 206476823 | G | A |
c.686G>A
|
p.Arg229Gln
|
3.0 |
|
B | ||
| 13388 | chr1 | 206476837 | A | C |
c.700A>C
|
p.Met234Leu
|
- | 3.0 |
|
B | |
| 32620 | chr1 | 206477847 | G | A |
c.800G>A
|
p.Cys267Tyr
|
- | 3.0 |
|
B | |
| 11706 | chr1 | 206478143 | A | C |
c.813-17A>C
|
-
|
- | 3.0 |
|
B |