Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14438 | chr2 | 178551173 | T | A |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 14882 | chr2 | 178551753 | C | T |
c.91147G>A
|
p.Glu30383Lys
|
- | 3.0 |
|
B | |
| 15338 | chr2 | 178551914 | C | T |
c.90986G>A
|
p.Gly30329Glu
|
- | 3.0 |
|
B | |
| 25359 | chr2 | 178552202 | C | T |
c.90698G>A
|
p.Arg30233Gln
|
3.0 |
|
B | ||
| 17218 | chr2 | 178552617 | C | T |
c.90283G>A
|
p.Glu30095Lys
|
- | 3.0 |
|
B | |
| 31247 | chr2 | 178552667 | G | T |
c.90233C>A
|
p.Ser30078Tyr
|
- | 3.0 |
|
B | |
| 4348 | chr2 | 178553019 | C | CTCTCATTG |
c.89880_89881insCAATGAGA
|
p.Gly29961GlnfsTer2
|
- | 3.0 |
|
B | |
| 4349 | chr2 | 178553021 | TCAATGAGA | T |
c.89871_89878del
|
p.Leu29958TrpfsTer7
|
- | 3.0 |
|
B | |
| 12481 | chr2 | 178553190 | G | A |
c.89710C>T
|
p.Arg29904Cys
|
3.0 |
|
B | ||
| 35380 | chr2 | 178553226 | C | G |
c.89674G>C
|
p.Asp29892His
|
- | 3.0 |
|
B | |
| 15619 | chr2 | 178553240 | C | T |
c.89660G>A
|
p.Ser29887Asn
|
- | 3.0 |
|
B | |
| 12657 | chr2 | 178553983 | C | T |
c.89128G>A
|
p.Ala29710Thr
|
- | 3.0 |
|
B | |
| 33977 | chr2 | 178554021 | C | T |
c.89090G>A
|
p.Gly29697Glu
|
- | 3.0 |
|
B | |
| 33809 | chr2 | 178554036 | C | G |
c.89075G>C
|
p.Arg29692Thr
|
- | 3.0 |
|
B | |
| 29014 | chr2 | 178554495 | C | T |
c.88852G>A
|
p.Glu29618Lys
|
3.0 |
|
B | ||
| 31248 | chr2 | 178554588 | G | T |
c.88759C>A
|
p.His29587Asn
|
- | 3.0 |
|
B | |
| 16698 | chr2 | 178554845 | G | A |
c.88594+20C>T
|
-
|
2.0 |
|
B | ||
| 14620 | chr2 | 178557260 | A | T |
c.88002T>A
|
p.Asp29334Glu
|
- | 3.0 |
|
B | |
| 30455 | chr2 | 178558148 | G | T |
c.87206C>A
|
p.Ser29069Tyr
|
- | 3.0 |
|
B | |
| 21594 | chr2 | 178559292 | C | T |
c.86821+19G>A
|
-
|
- | 3.0 |
|
B |