Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34094 | chr1 | 237500809 | T | G |
c.2302T>G
|
p.Phe768Val
|
3.0 |
|
B | ||
| 16563 | chr1 | 237500821 | G | T |
c.2314G>T
|
p.Gly772Ter
|
- | 3.0 |
|
B | |
| 21445 | chr1 | 237503308 | G | C |
c.2416G>C
|
p.Gly806Arg
|
3.0 |
|
B | ||
| 11139 | chr1 | 237503311 | C | T |
c.2419C>T
|
p.Arg807Ter
|
3.0 |
|
B | ||
| 30381 | chr1 | 237503325 | C | G |
c.2433C>G
|
p.Phe811Leu
|
- | 3.0 |
|
B | |
| 23850 | chr1 | 237503335 | C | A |
c.2443C>A
|
p.Pro815Thr
|
- | 3.0 |
|
B | |
| 17198 | chr1 | 237503437 | G | A |
c.2545G>A
|
p.Asp849Asn
|
2.5 |
|
B | ||
| 15160 | chr1 | 237503522 | G | C |
c.2613+17G>C
|
-
|
- | 3.0 |
|
B | |
| 26055 | chr1 | 237506693 | C | T |
c.2614-17C>T
|
-
|
3.0 |
|
B | ||
| 23852 | chr1 | 237506712 | C | A |
c.2616C>A
|
p.Ile872=
|
- | 2.5 |
|
B | |
| 15391 | chr1 | 237506773 | T | C |
c.2677T>C
|
p.Trp893Arg
|
- | 3.0 |
|
B | |
| 23851 | chr1 | 237511680 | T | A |
c.2719-8T>A
|
-
|
- | 3.0 |
|
B | |
| 19184 | chr1 | 237511805 | C | A |
c.2822+14C>A
|
-
|
- | 3.0 |
|
B | |
| 34845 | chr1 | 237550566 | C | T |
c.3089C>T
|
p.Pro1030Leu
|
3.0 |
|
B | ||
| 15459 | chr1 | 237550629 | G | A |
c.3152G>A
|
p.Arg1051His
|
2.5 |
|
B | ||
| 13821 | chr1 | 237566551 | T | C |
c.3215-16T>C
|
-
|
- | 3.0 |
|
B | |
| 31746 | chr1 | 237566589 | C | A |
c.3237C>A
|
p.Ser1079Arg
|
- | 3.0 |
|
B | |
| 29930 | chr1 | 237566775 | G | A |
c.3423G>A
|
p.Lys1141=
|
3.0 |
|
B | ||
| 33173 | chr1 | 237569154 | T | C |
c.3433T>C
|
p.Trp1145Arg
|
- | 3.0 |
|
B | |
| 32302 | chr1 | 237569182 | G | A |
c.3461G>A
|
p.Arg1154His
|
2.0 |
|
B |