Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19448 | chr5 | 31451645 | GA | G |
c.2575-6del
|
-
|
2.5 |
|
B | ||
| 25301 | chr5 | 31464304 | G | A |
c.2506C>T
|
p.Arg836Ter
|
- | 4.0 |
|
B | |
| 18092 | chr5 | 31466287 | G | A |
c.2367-6C>T
|
-
|
3.0 |
|
B | ||
| 2089 | chr5 | 31486495 | G | A |
c.1910C>T
|
p.Pro637Leu
|
3.0 |
|
B | ||
| 15460 | chr5 | 31486534 | T | C |
c.1871A>G
|
p.Asn624Ser
|
- | 3.0 |
|
B | |
| 27721 | chr5 | 31495275 | T | C |
c.1755+11A>G
|
-
|
3.0 |
|
B | ||
| 28231 | chr5 | 31495335 | C | A |
c.1706G>T
|
p.Gly569Val
|
3.0 |
|
B | ||
| 8038 | chr5 | 31508709 | TCA | T |
c.1497_1498del
|
p.Glu500SerfsTer3
|
- | 4.0 |
|
B | |
| 31190 | chr5 | 31511127 | T | A |
c.1340A>T
|
p.Lys447Ile
|
- | 3.0 |
|
B | |
| 21457 | chr5 | 31521204 | C | G |
c.866G>C
|
p.Arg289Pro
|
- | 3.0 |
|
B | |
| 20852 | chr5 | 31526067 | C | G |
c.854+12G>C
|
-
|
- | 3.0 |
|
B | |
| 29818 | chr5 | 31526122 | G | A |
c.811C>T
|
p.Arg271Ter
|
4.0 |
|
B | ||
| 6138 | chr5 | 31526373 | T | C |
c.560A>G
|
p.Asn187Ser
|
- | 3.0 |
|
B | |
| 8750 | chr5 | 31526613 | A | G |
c.320T>C
|
p.Met107Thr
|
- | 3.0 |
|
B | |
| 30736 | chr5 | 31526650 | G | A |
c.283C>T
|
p.Pro95Ser
|
3.0 |
|
B | ||
| 10137 | chr5 | 31526686 | G | T |
c.247C>A
|
p.Pro83Thr
|
- | 3.0 |
|
B | |
| 2519 | chr5 | 31526703 | T | C |
c.230A>G
|
p.Asp77Gly
|
- | 3.0 |
|
B | |
| 1779 | chr5 | 31526746 | A | C |
c.187T>G
|
p.Phe63Val
|
- | 3.0 |
|
B | |
| 14321 | chr5 | 31526788 | C | A |
c.145G>T
|
p.Val49Leu
|
- | 3.0 |
|
B | |
| 863 | chr5 | 31526790 | G | A |
c.143C>T
|
p.Pro48Leu
|
3.0 |
|
B |