Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4664 | chr5 | 95520797 | A | T |
c.2033T>A
|
p.Met678Lys
|
- | 3.0 |
|
B | |
| 3635 | chr5 | 95555390 | G | A |
-
c.112G>A
|
-
p.Val38Met
|
3.0 |
|
B | ||
| 4665 | chr5 | 95583085 | G | A |
c.586G>A
|
p.Glu196Lys
|
3.0 |
|
B | ||
| 4829 | chr5 | 95888881 | G | GGTCCTAGA |
c.1912_1913insTCTAGGAC
|
p.Ser638PhefsTer2
|
- | 3.5 |
|
B | |
| 7272 | chr5 | 98856657 | A | G |
c.4856T>C
|
p.Leu1619Ser
|
- | 3.0 |
|
B | |
| 9074 | chr5 | 98868530 | C | T |
c.4213G>A
|
p.Glu1405Lys
|
- | 3.0 |
|
B | |
| 8537 | chr5 | 98869847 | C | A |
c.4014G>T
|
p.Lys1338Asn
|
- | 3.0 |
|
B | |
| 24274 | chr5 | 98870746 | C | T |
c.3919G>A
|
p.Asp1307Asn
|
- | 3.0 |
|
B | |
| 32600 | chr5 | 98872414 | C | T |
c.3710+3G>A
|
-
|
- | 3.0 |
|
B | |
| 22305 | chr5 | 98872520 | G | A |
c.3607C>T
|
p.Arg1203Ter
|
- | 3.0 |
|
B | |
| 10126 | chr5 | 98872539 | T | A |
c.3588A>T
|
p.Lys1196Asn
|
- | 3.0 |
|
B | |
| 16895 | chr5 | 98872543 | C | G |
c.3584G>C
|
p.Gly1195Ala
|
- | 3.0 |
|
B | |
| 19350 | chr5 | 98872568 | T | TA |
c.3572-14dup
|
-
|
3.0 |
|
B | ||
| 29753 | chr5 | 98872570 | A | G |
c.3572-15T>C
|
-
|
- | 3.0 |
|
B | |
| 3838 | chr5 | 98879572 | T | G |
c.3217A>C
|
p.Met1073Leu
|
- | 3.0 |
|
B | |
| 7513 | chr5 | 98881086 | G | A |
c.3050C>T
|
p.Ser1017Phe
|
- | 3.0 |
|
B | |
| 6823 | chr5 | 98881333 | C | G |
c.2910G>C
|
p.Lys970Asn
|
- | 3.0 |
|
B | |
| 18663 | chr5 | 98883148 | C | G |
c.2658G>C
|
p.Trp886Cys
|
- | 3.0 |
|
B | |
| 30805 | chr5 | 98883165 | T | C |
c.2641A>G
|
p.Ile881Val
|
3.0 |
|
B | ||
| 19588 | chr5 | 98885653 | GA | G |
c.2497-5del
|
-
|
3.0 |
|
B |