Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25346 | chr3 | 47122307 | CT | C |
c.2328del
|
p.Glu777AsnfsTer21
|
- | 4.0 |
|
B | |
| 4899 | chr3 | 47122505 | C | T |
c.2131G>A
|
p.Val711Ile
|
- | 3.5 |
|
B | |
| 34542 | chr3 | 47122557 | AGCATCAGTTTTAGAAGT | A |
c.2062_2078del
|
p.Thr688CysfsTer6
|
- | 4.0 |
|
B | |
| 14299 | chr3 | 47122600 | GC | G |
c.2035del
|
p.Ala679GlnfsTer17
|
- | 4.0 |
|
B | |
| 7438 | chr3 | 47122876 | G | A |
c.1760C>T
|
p.Ser587Phe
|
- | 3.0 |
|
B | |
| 6488 | chr3 | 47122882 | G | A |
c.1754C>T
|
p.Ser585Phe
|
- | 3.0 |
|
B | |
| 10340 | chr3 | 47122903 | A | T |
c.1733T>A
|
p.Leu578Ter
|
- | 4.0 |
|
B | |
| 10364 | chr3 | 47122923 | A | T |
c.1713T>A
|
p.Asn571Lys
|
- | 3.0 |
|
B | |
| 8379 | chr3 | 47122939 | G | A |
c.1697C>T
|
p.Ser566Phe
|
- | 3.0 |
|
B | |
| 14588 | chr3 | 47123005 | G | A |
c.1631C>T
|
p.Ser544Leu
|
- | 3.0 |
|
B | |
| 1760 | chr3 | 47123015 | G | A |
c.1621C>T
|
p.Arg541Ter
|
- | 4.0 |
|
B | |
| 18825 | chr3 | 47123030 | C | A |
c.1606G>T
|
p.Glu536Ter
|
- | 4.0 |
|
B | |
| 33914 | chr3 | 47123199 | A | AG |
c.1436dup
|
p.Tyr480LeufsTer11
|
- | 4.0 |
|
B | |
| 16120 | chr3 | 47123200 | G | C |
c.1436C>G
|
p.Ser479Cys
|
- | 3.0 |
|
B | |
| 24864 | chr3 | 47123272 | GCT | G |
c.1362_1363del
|
p.Arg454SerfsTer6
|
- | 4.0 |
|
B | |
| 17510 | chr3 | 47123302 | C | T |
c.1334G>A
|
p.Arg445His
|
3.0 |
|
B | ||
| 170 | chr3 | 47123315 | G | A |
c.1321C>T
|
p.Arg441Ter
|
4.67 |
|
A | ||
| 4469 | chr3 | 47123342 | G | A |
c.1294C>T
|
p.Arg432Cys
|
3.0 |
|
B | ||
| 27389 | chr3 | 47123395 | CTA | C |
c.1239_1240del
|
p.Arg414AsnfsTer2
|
- | 4.0 |
|
B | |
| 30844 | chr3 | 47123459 | G | A |
c.1177C>T
|
p.Arg393Ter
|
- | 4.5 |
|
B |