Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17501 | chr13 | 26400477 | C | T |
c.958C>T
|
p.Pro320Ser
|
- | 3.0 |
|
B | |
| 25293 | chr13 | 26401291 | C | T |
c.1054C>T
|
p.Pro352Ser
|
- | 3.0 |
|
B | |
| 6975 | chr13 | 26403966 | C | A |
c.1280C>A
|
p.Pro427Gln
|
- | 3.0 |
|
B | |
| 5107 | chr13 | 26642307 | T | A |
c.37T>A
|
p.Leu13Met
|
3.0 |
|
B | ||
| 5111 | chr13 | 26642308 | T | A |
c.38T>A
|
p.Leu13Ter
|
3.0 |
|
B | ||
| 26306 | chr13 | 26642313 | C | T |
c.43C>T
|
p.Arg15Trp
|
3.0 |
|
B | ||
| 8681 | chr13 | 26665024 | A | G |
c.134-4A>G
|
-
|
1.0 |
|
B | ||
| 9636 | chr13 | 26665148 | C | T |
c.254C>T
|
p.Ser85Leu
|
- | 3.0 |
|
B | |
| 10484 | chr13 | 26667545 | A | C |
c.297A>C
|
p.Lys99Asn
|
- | 3.0 |
|
B | |
| 8227 | chr13 | 26667639 | C | A |
c.391C>A
|
p.Pro131Thr
|
- | 3.0 |
|
B | |
| 27132 | chr13 | 26671931 | G | C |
c.482G>C
|
p.Trp161Ser
|
- | 3.0 |
|
B | |
| 17888 | chr13 | 26676532 | C | G |
c.541-17C>G
|
-
|
- | 3.0 |
|
B | |
| 7483 | chr13 | 26676623 | G | T |
c.615G>T
|
p.Trp205Cys
|
- | 3.0 |
|
B | |
| 14097 | chr13 | 26676629 | G | C |
c.621G>C
|
p.Met207Ile
|
- | 3.0 |
|
B | |
| 7842 | chr13 | 26676657 | G | T |
c.649G>T
|
p.Asp217Tyr
|
- | 3.0 |
|
B | |
| 23803 | chr13 | 26680028 | C | T |
c.717-1026C>T
|
-
|
- | 3.0 |
|
B | |
| 35219 | chr13 | 26680154 | G | T |
c.717-900G>T
|
-
|
- | 3.0 |
|
B | |
| 25891 | chr13 | 26681121 | C | G |
c.784C>G
|
p.Pro262Ala
|
- | 3.0 |
|
B | |
| 22008 | chr13 | 26681206 | C | G |
c.869C>G
|
p.Ser290Cys
|
- | 3.0 |
|
B | |
| 14117 | chr13 | 26681206 | C | T |
c.869C>T
|
p.Ser290Phe
|
- | 3.0 |
|
B |