Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1901 | chr1 | 119514197 | A | G |
c.674A>G
|
p.Tyr225Cys
|
3.0 |
|
B | ||
| 25912 | chr1 | 119514277 | C | G |
c.754C>G
|
p.Gln252Glu
|
- | 3.0 |
|
B | |
| 20516 | chr1 | 119514418 | G | A |
c.895G>A
|
p.Glu299Lys
|
3.0 |
|
B | ||
| 16674 | chr1 | 119915361 | C | T |
c.7361G>A
|
p.Gly2454Glu
|
3.0 |
|
B | ||
| 6455 | chr1 | 119915406 | AC | A |
c.7315del
|
p.Val2439Ter
|
- | 4.0 |
|
B | |
| 28154 | chr1 | 119915478 | AGGT | A |
c.7241_7243del
|
p.Tyr2414del
|
- | 3.0 |
|
B | |
| 28155 | chr1 | 119915482 | AGG | A |
c.7238_7239del
|
p.Pro2413LeufsTer10
|
- | 4.0 |
|
B | |
| 34803 | chr1 | 119915524 | G | A |
c.7198C>T
|
p.Arg2400Ter
|
5.0 |
|
B | ||
| 14885 | chr1 | 119915694 | G | A |
c.7028C>T
|
p.Pro2343Leu
|
- | 3.0 |
|
B | |
| 34263 | chr1 | 119915856 | G | GA |
c.6865_6866insT
|
p.Pro2289LeufsTer2
|
- | 4.0 |
|
B | |
| 34259 | chr1 | 119915857 | GTGGCCTGCT | G |
c.6856_6864del
|
p.Ser2286_Pro2288del
|
- | 3.0 |
|
B | |
| 5726 | chr1 | 119916220 | G | C |
c.6502C>G
|
p.Pro2168Ala
|
- | 3.0 |
|
B | |
| 24085 | chr1 | 119916453 | G | A |
c.6269C>T
|
p.Ser2090Phe
|
3.0 |
|
B | ||
| 24086 | chr1 | 119916484 | G | A |
c.6238C>T
|
p.Leu2080Phe
|
- | 3.0 |
|
B | |
| 17905 | chr1 | 119917685 | G | A |
c.6007C>T
|
p.Arg2003Ter
|
5.0 |
|
B | ||
| 11800 | chr1 | 119919314 | G | A |
c.5779C>T
|
p.Gln1927Ter
|
- | 4.0 |
|
B | |
| 34751 | chr1 | 119919482 | CCTGGAGG | C |
c.5604_5610del
|
p.Ser1868ArgfsTer60
|
- | 4.0 |
|
B | |
| 31652 | chr1 | 119919623 | TGGAAAATTCCATAAAGTACTCAA | T |
c.5480-33_5480-11del
|
-
|
- | 3.0 |
|
B | |
| 10741 | chr1 | 119920279 | GGAGGGGT | G |
c.5422_5428del
|
p.Thr1808LeufsTer10
|
- | 4.0 |
|
B | |
| 32002 | chr1 | 119921828 | G | A |
c.5214-19C>T
|
-
|
- | 3.0 |
|
B |