Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22677 | chr14 | 61720364 | CTTG | C |
c.36-9_36-7del
|
-
|
3.0 |
|
B | ||
| 13627 | chr14 | 61720431 | C | T |
c.85C>T
|
p.Arg29Trp
|
3.0 |
|
B | ||
| 25971 | chr14 | 61721652 | CAGGTAAAATGCACACATATTAAGAGCTCTT | C |
c.371_372+28del
|
p.?
|
- | 3.0 |
|
B | |
| 8271 | chr14 | 61721737 | AGTTTGAACT | A |
c.373-1_380del
|
p.?
|
- | 3.0 |
|
B | |
| 28361 | chr14 | 61721832 | A | G |
c.457+9A>G
|
-
|
- | 3.0 |
|
B | |
| 33745 | chr14 | 61732467 | A | G |
c.823A>G
|
p.Ile275Val
|
3.0 |
|
B | ||
| 14683 | chr14 | 61734129 | C | T |
c.881-9C>T
|
-
|
3.0 |
|
B | ||
| 21891 | chr14 | 61737062 | C | T |
c.1202C>T
|
p.Ala401Val
|
- | 3.0 |
|
B | |
| 5787 | chr14 | 61738129 | A | G |
c.1292A>G
|
p.Tyr431Cys
|
- | 3.0 |
|
B | |
| 1026 | chr14 | 61738158 | G | A |
c.1321G>A
|
p.Glu441Lys
|
3.0 |
|
B | ||
| 5494 | chr14 | 61740549 | G | A |
c.1581G>A
|
p.Met527Ile
|
3.0 |
|
B | ||
| 3093 | chr14 | 61740583 | C | CT |
c.1620dup
|
p.Ala541CysfsTer2
|
- | 3.0 |
|
B | |
| 11341 | chr14 | 61740872 | G | T |
c.1777G>T
|
p.Ala593Ser
|
- | 3.0 |
|
B | |
| 25980 | chr14 | 61741187 | AG | A |
c.2093+1del
|
p.?
|
- | 3.5 |
|
B | |
| 32629 | chr14 | 61745748 | C | T |
c.2260C>T
|
p.Arg754Cys
|
3.0 |
|
B | ||
| 13121 | chr14 | 61745817 | G | A |
c.2329G>A
|
p.Asp777Asn
|
- | 3.0 |
|
B | |
| 4365 | chr14 | 62980928 | C | T |
c.886G>A
|
p.Asp296Asn
|
3.0 |
|
B | ||
| 34262 | chr14 | 64090864 | A | C |
c.11794-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 31992 | chr14 | 64101921 | T | C |
c.12382-11T>C
|
-
|
3.0 |
|
B | ||
| 35143 | chr14 | 64125182 | G | A |
c.13526G>A
|
p.Arg4509His
|
2.0 |
|
B |