Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31057 | chr1 | 155238602 | G | C |
c.503C>G
|
p.Ser168Cys
|
- | 3.0 |
|
B | |
| 19515 | chr1 | 155338208 | GT | G |
c.8683del
|
p.Thr2895GlnfsTer44
|
3.0 |
|
B | ||
| 4625 | chr1 | 155357754 | G | A |
c.6796-5C>T
|
-
|
- | 3.0 |
|
B | |
| 6100 | chr1 | 155900545 | C | T |
c.503G>A
|
p.Arg168His
|
3.0 |
|
B | ||
| 32841 | chr1 | 155900548 | T | G |
c.500A>C
|
p.Tyr167Ser
|
- | 3.0 |
|
B | |
| 21177 | chr1 | 155900563 | T | G |
c.485A>C
|
p.Glu162Ala
|
- | 3.0 |
|
B | |
| 4942 | chr1 | 155904406 | G | A |
c.334C>T
|
p.Arg112Cys
|
3.0 |
|
B | ||
| 27825 | chr1 | 155904436 | T | C |
c.304A>G
|
p.Ile102Val
|
3.0 |
|
B | ||
| 8557 | chr1 | 155904470 | C | A |
c.270G>T
|
p.Met90Ile
|
4.0 |
|
B | ||
| 10187 | chr1 | 155904489 | G | A |
c.251C>T
|
p.Ala84Val
|
3.5 |
|
B | ||
| 2718 | chr1 | 155904495 | A | C |
c.245T>G
|
p.Phe82Cys
|
4.0 |
|
B | ||
| 34711 | chr1 | 155910506 | G | T |
-
c.107C>A
|
-
p.Ala36Asp
|
- | 3.0 |
|
B | |
| 33337 | chr1 | 155910645 | A | G |
-
c.106+11T>C
|
-
-
|
- | 3.0 |
|
B | |
| 5776 | chr1 | 155910660 | C | G |
-
c.102G>C
|
-
p.Lys34Asn
|
- | 3.0 |
|
B | |
| 18703 | chr1 | 155910702 | C | A |
-
c.60G>T
|
-
p.Arg20=
|
- | 3.0 |
|
B | |
| 16679 | chr1 | 155910775 | C | T |
-
c.-14G>A
|
-
-
|
- | 3.0 |
|
B | |
| 15044 | chr1 | 156114983 | C | T |
c.65C>T
|
p.Ser22Leu
|
3.5 |
|
B | ||
| 10462 | chr1 | 156115034 | A | G |
c.116A>G
|
p.Asn39Ser
|
3.5 |
|
B | ||
| 5480 | chr1 | 156115226 | A | G |
c.308A>G
|
p.Gln103Arg
|
- | 3.5 |
|
B | |
| 13535 | chr1 | 156126209 | G | A |
c.357-4408G>A
|
-
|
- | 3.0 |
|
B |