Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29232 | chr5 | 112838250 | C | T |
c.2656C>T
|
p.Gln886Ter
|
4.5 |
|
B | ||
| 16289 | chr5 | 112838295 | C | T |
c.2701C>T
|
p.Gln901Ter
|
4.5 |
|
B | ||
| 9228 | chr5 | 112838299 | AAGAC | A |
c.2709_2712del
|
p.Asp903GlufsTer12
|
- | 4.0 |
|
B | |
| 21698 | chr5 | 112838316 | TCTAC | T |
c.2724_2727del
|
p.Thr909LeufsTer6
|
- | 4.0 |
|
B | |
| 2090 | chr5 | 112838381 | T | TAC |
c.2791_2792dup
|
p.Ser932IlefsTer24
|
- | 4.0 |
|
B | |
| 24782 | chr5 | 112838389 | C | A |
c.2795C>A
|
p.Ser932Ter
|
4.5 |
|
B | ||
| 15588 | chr5 | 112838393 | CACTT | C |
c.2802_2805del
|
p.Tyr935IlefsTer19
|
4.5 |
|
B | ||
| 254 | chr5 | 112838397 | T | TA |
c.2804dup
|
p.Tyr935Ter
|
4.67 |
|
A | ||
| 31659 | chr5 | 112838399 | C | G |
c.2805C>G
|
p.Tyr935Ter
|
4.5 |
|
B | ||
| 34766 | chr5 | 112838401 | AT | A |
c.2810del
|
p.Phe937SerfsTer18
|
- | 4.5 |
|
B | |
| 14151 | chr5 | 112838415 | G | T |
c.2821G>T
|
p.Glu941Ter
|
- | 4.0 |
|
B | |
| 477 | chr5 | 112838415 | GAA | G |
c.2824_2825del
|
p.Asn942PhefsTer3
|
- | 4.0 |
|
B | |
| 16645 | chr5 | 112838460 | TAC | T |
c.2868_2869del
|
p.Tyr956Ter
|
- | 4.0 |
|
B | |
| 26315 | chr5 | 112838473 | CA | C |
c.2882del
|
p.Asn961MetfsTer4
|
- | 4.0 |
|
B | |
| 24039 | chr5 | 112838499 | A | AGTAGTGAT |
c.2907_2914dup
|
p.Gly972ValfsTer11
|
- | 4.0 |
|
B | |
| 17516 | chr5 | 112838516 | TAA | T |
c.2925_2926del
|
p.Gly977SerfsTer7
|
- | 4.0 |
|
B | |
| 33067 | chr5 | 112838552 | T | G |
c.2958T>G
|
p.Tyr986Ter
|
- | 4.0 |
|
B | |
| 255 | chr5 | 112838569 | G | GT |
c.2976dup
|
p.Lys993Ter
|
- | 4.67 |
|
A | |
| 14026 | chr5 | 112838571 | A | T |
c.2977A>T
|
p.Lys993Ter
|
- | 4.5 |
|
B | |
| 8820 | chr5 | 112838579 | C | A |
c.2985C>A
|
p.Cys995Ter
|
4.5 |
|
B |