Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27177 | chr13 | 35566991 | C | T |
c.7009C>T
|
p.Pro2337Ser
|
- | 3.0 |
|
B | |
| 18150 | chr13 | 35567006 | G | A |
c.7024G>A
|
p.Asp2342Asn
|
3.0 |
|
B | ||
| 18959 | chr13 | 35583944 | G | A |
c.7082G>A
|
p.Arg2361His
|
3.0 |
|
B | ||
| 25953 | chr13 | 35593361 | G | A |
c.7210G>A
|
p.Asp2404Asn
|
- | 3.0 |
|
B | |
| 32653 | chr13 | 35593413 | G | A |
c.7262G>A
|
p.Trp2421Ter
|
- | 3.0 |
|
B | |
| 17503 | chr13 | 35606541 | CA | C |
c.7419del
|
p.Lys2473AsnfsTer13
|
3.0 |
|
B | ||
| 34865 | chr13 | 35606556 | A | T |
c.7427A>T
|
p.Asp2476Val
|
- | 3.0 |
|
B | |
| 30047 | chr13 | 35645850 | C | CT |
c.7618-11dup
|
-
|
3.0 |
|
B | ||
| 25843 | chr13 | 35645932 | G | T |
c.7680+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 16806 | chr13 | 35646243 | C | T |
c.7681-16C>T
|
-
|
- | 3.0 |
|
B | |
| 33893 | chr13 | 35646266 | A | T |
c.7688A>T
|
p.Glu2563Val
|
- | 3.0 |
|
B | |
| 23685 | chr13 | 35646293 | C | T |
c.7715C>T
|
p.Thr2572Met
|
2.0 |
|
B | ||
| 27796 | chr13 | 35646295 | C | T |
c.7717C>T
|
p.Pro2573Ser
|
- | 3.0 |
|
B | |
| 22368 | chr13 | 35651867 | C | T |
c.8026C>T
|
p.Pro2676Ser
|
- | 3.0 |
|
B | |
| 34345 | chr13 | 35651892 | A | C |
c.8035+16A>C
|
-
|
- | 3.0 |
|
B | |
| 15565 | chr13 | 35654849 | T | C |
c.8036-6T>C
|
-
|
- | 3.0 |
|
B | |
| 29721 | chr13 | 35655025 | G | A |
c.8191+15G>A
|
-
|
- | 3.0 |
|
B | |
| 22104 | chr13 | 35655592 | G | T |
c.8205G>T
|
p.Gln2735His
|
- | 3.0 |
|
B | |
| 28647 | chr13 | 35665160 | T | G |
c.8438T>G
|
p.Leu2813Arg
|
- | 3.0 |
|
B | |
| 33755 | chr13 | 35668362 | C | A |
c.8662-6C>A
|
-
|
- | 3.0 |
|
B |