Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15799 | chr3 | 100320891 | CA | C |
c.1947del
|
p.Lys649AsnfsTer18
|
3.0 |
|
B | ||
| 4824 | chr3 | 100669053 | A | ATCATCATTAAC |
c.2085_2086insCATCATTAACT
|
p.Ser696HisfsTer3
|
- | 3.0 |
|
B | |
| 3387 | chr3 | 101853551 | C | T |
c.1025C>T
|
p.Ser342Phe
|
3.0 |
|
B | ||
| 25800 | chr3 | 105659014 | C | A |
c.2905G>T
|
p.Glu969Ter
|
- | 4.0 |
|
B | |
| 34761 | chr3 | 105659155 | GT | G |
c.2763del
|
p.Lys921AsnfsTer29
|
- | 4.0 |
|
B | |
| 8880 | chr3 | 105659230 | C | G |
c.2690-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 23042 | chr3 | 105678467 | G | A |
c.2533C>T
|
p.Pro845Ser
|
- | 3.0 |
|
B | |
| 32334 | chr3 | 105681503 | AATCAGAGGGC | A |
c.2394_2403del
|
p.Pro799MetfsTer8
|
- | 4.0 |
|
B | |
| 2811 | chr3 | 105681781 | G | A |
c.2239C>T
|
p.His747Tyr
|
- | 3.0 |
|
B | |
| 10267 | chr3 | 105685368 | G | A |
c.2153C>T
|
p.Ser718Phe
|
- | 3.0 |
|
B | |
| 15394 | chr3 | 105685401 | T | C |
c.2120A>G
|
p.Asp707Gly
|
- | 3.0 |
|
B | |
| 21153 | chr3 | 105685406 | A | C |
c.2115T>G
|
p.Asp705Glu
|
- | 3.0 |
|
B | |
| 20300 | chr3 | 105685476 | GAA | G |
c.2055-12_2055-11del
|
-
|
- | 3.0 |
|
B | |
| 7013 | chr3 | 105702246 | G | C |
c.1807C>G
|
p.Gln603Glu
|
- | 3.0 |
|
B | |
| 26378 | chr3 | 105702303 | TG | T |
c.1749del
|
p.Arg584GlufsTer27
|
- | 4.0 |
|
B | |
| 12116 | chr3 | 105702398 | C | T |
c.1655G>A
|
p.Arg552Lys
|
3.0 |
|
B | ||
| 1761 | chr3 | 105704052 | C | T |
c.1529G>A
|
p.Arg510His
|
3.0 |
|
B | ||
| 7080 | chr3 | 105704089 | G | A |
c.1492C>T
|
p.Gln498Ter
|
- | 3.5 |
|
B | |
| 18083 | chr3 | 105720057 | T | C |
c.1397A>G
|
p.Asn466Ser
|
3.0 |
|
B | ||
| 663 | chr3 | 105720219 | C | T |
c.1235G>A
|
p.Arg412His
|
3.0 |
|
B |