Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1560 | chr5 | 38959984 | A | G |
c.1852-6T>C
|
-
|
3.0 |
|
B | ||
| 27060 | chr5 | 38962310 | C | T |
c.1715+5G>A
|
-
|
- | 3.0 |
|
B | |
| 26998 | chr5 | 38962473 | A | T |
c.1668+12T>A
|
-
|
- | 3.0 |
|
B | |
| 33429 | chr5 | 38962544 | C | G |
c.1609G>C
|
p.Val537Leu
|
- | 3.0 |
|
B | |
| 17607 | chr5 | 38964866 | ATGTGAATGAGGAAGAAT | A |
c.1309_1325del
|
p.Ile437Ter
|
- | 3.0 |
|
B | |
| 6085 | chr5 | 38967349 | C | T |
c.1139G>A
|
p.Arg380His
|
3.0 |
|
B | ||
| 14323 | chr5 | 38971929 | G | A |
c.920C>T
|
p.Ser307Phe
|
- | 3.0 |
|
B | |
| 6947 | chr5 | 38975558 | C | G |
c.868G>C
|
p.Ala290Pro
|
- | 3.0 |
|
B | |
| 18718 | chr5 | 38978592 | C | A |
c.812G>T
|
p.Gly271Val
|
- | 3.0 |
|
B | |
| 5421 | chr5 | 38978649 | C | G |
c.755G>C
|
p.Arg252Thr
|
- | 3.0 |
|
B | |
| 30846 | chr5 | 38990926 | CATTACTTGAAGAA | C |
c.583+10_583+22del
|
-
|
- | 3.0 |
|
B | |
| 8833 | chr5 | 38991011 | T | C |
c.521A>G
|
p.Asn174Ser
|
- | 3.0 |
|
B | |
| 20596 | chr5 | 38996802 | TCA | T |
c.456+15_456+16del
|
-
|
3.0 |
|
B | ||
| 33060 | chr5 | 39003545 | G | A |
c.260+13C>T
|
-
|
- | 3.0 |
|
B | |
| 25807 | chr5 | 39021115 | T | C |
c.119A>G
|
p.Glu40Gly
|
- | 3.0 |
|
B | |
| 31265 | chr5 | 39074095 | C | G |
c.97+16G>C
|
-
|
- | 3.0 |
|
B | |
| 16554 | chr5 | 39074102 | C | G |
c.97+9G>C
|
-
|
- | 3.0 |
|
B | |
| 20732 | chr5 | 39074113 | C | T |
c.95G>A
|
p.Arg32Gln
|
3.0 |
|
B | ||
| 9191 | chr5 | 39074116 | G | T |
c.92C>A
|
p.Thr31Asn
|
- | 3.0 |
|
B | |
| 17273 | chr5 | 39074146 | C | T |
c.62G>A
|
p.Ser21Asn
|
- | 3.0 |
|
B |