Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6397 | chr3 | 120093392 | T | G |
c.43A>C
|
p.Lys15Gln
|
- | 3.0 |
|
B | |
| 13755 | chr3 | 120093421 | G | A |
c.14C>T
|
p.Pro5Leu
|
- | 3.0 |
|
B | |
| 11809 | chr3 | 121432304 | T | A |
c.7773A>T
|
p.Ter2591TyrextTer4
|
- | 3.0 |
|
B | |
| 26251 | chr3 | 121432423 | G | GA |
c.7660-7dup
|
-
|
2.5 |
|
B | ||
| 15800 | chr3 | 121432423 | GA | G |
c.7660-7del
|
-
|
3.0 |
|
B | ||
| 9022 | chr3 | 121436127 | T | C |
c.7538A>G
|
p.Gln2513Arg
|
1.0 |
|
B | ||
| 12536 | chr3 | 121436268 | C | T |
c.7397G>A
|
p.Arg2466His
|
3.0 |
|
B | ||
| 26211 | chr3 | 121436285 | A | C |
c.7390-10T>G
|
-
|
- | 3.0 |
|
B | |
| 6545 | chr3 | 121440008 | G | A |
c.7373C>T
|
p.Pro2458Leu
|
- | 3.0 |
|
B | |
| 28518 | chr3 | 121449316 | T | C |
c.7263A>G
|
p.Thr2421=
|
2.0 |
|
B | ||
| 14561 | chr3 | 121449338 | T | G |
c.7241A>C
|
p.Asp2414Ala
|
- | 3.0 |
|
B | |
| 34716 | chr3 | 121460135 | G | C |
c.7067C>G
|
p.Ala2356Gly
|
- | 3.0 |
|
B | |
| 10566 | chr3 | 121460212 | G | T |
c.6990C>A
|
p.Asp2330Glu
|
- | 3.0 |
|
B | |
| 20594 | chr3 | 121460243 | G | C |
c.6968-9C>G
|
-
|
- | 3.0 |
|
B | |
| 26194 | chr3 | 121467504 | T | C |
c.6967+15A>G
|
-
|
- | 3.0 |
|
B | |
| 28896 | chr3 | 121471989 | C | T |
c.6718+1G>A
|
p.?
|
3.0 |
|
B | ||
| 33810 | chr3 | 121472010 | G | A |
c.6698C>T
|
p.Ser2233Leu
|
- | 3.0 |
|
B | |
| 20896 | chr3 | 121472043 | G | A |
c.6665C>T
|
p.Pro2222Leu
|
3.0 |
|
B | ||
| 26414 | chr3 | 121473439 | G | T |
c.6454C>A
|
p.Gln2152Lys
|
- | 3.0 |
|
B | |
| 5419 | chr3 | 121473445 | TC | T |
c.6447del
|
p.Met2149IlefsTer23
|
- | 3.0 |
|
B |