Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23180 | chr8 | 31068250 | T | C |
c.655-8T>C
|
-
|
- | 2.0 |
|
B | |
| 19614 | chr8 | 31076156 | AT | A |
c.725-9del
|
-
|
2.0 |
|
B | ||
| 19520 | chr8 | 31080854 | AT | A |
c.840-3del
|
-
|
2.0 |
|
B | ||
| 5073 | chr8 | 31080879 | A | C |
c.852A>C
|
p.Leu284Phe
|
- | 3.0 |
|
B | |
| 23650 | chr8 | 31080929 | G | T |
c.902G>T
|
p.Gly301Val
|
- | 3.0 |
|
B | |
| 13108 | chr8 | 31081108 | G | A |
c.1081G>A
|
p.Asp361Asn
|
- | 3.0 |
|
B | |
| 13109 | chr8 | 31081162 | G | A |
c.1135G>A
|
p.Glu379Lys
|
- | 3.0 |
|
B | |
| 2842 | chr8 | 31087860 | AAAG | A |
c.1530_1532del
|
p.Glu510del
|
3.0 |
|
B | ||
| 15228 | chr8 | 31088882 | A | G |
c.1577-8A>G
|
-
|
- | 2.0 |
|
B | |
| 3022 | chr8 | 31096779 | G | C |
c.1910G>C
|
p.Arg637Pro
|
- | 3.0 |
|
B | |
| 26874 | chr8 | 31100894 | G | A |
c.2027G>A
|
p.Trp676Ter
|
4.0 |
|
B | ||
| 11102 | chr8 | 31111712 | G | A |
c.2186G>A
|
p.Gly729Asp
|
- | 3.0 |
|
B | |
| 9505 | chr8 | 31116440 | T | C |
c.2360T>C
|
p.Leu787Pro
|
3.0 |
|
B | ||
| 20045 | chr8 | 31116466 | G | A |
c.2386G>A
|
p.Ala796Thr
|
- | 3.0 |
|
B | |
| 5097 | chr8 | 31116502 | C | T |
c.2422C>T
|
p.His808Tyr
|
3.0 |
|
B | ||
| 14143 | chr8 | 31120390 | G | A |
c.2596G>A
|
p.Val866Ile
|
2.5 |
|
B | ||
| 19004 | chr8 | 31120426 | T | TA |
c.2630+10dup
|
-
|
2.0 |
|
B | ||
| 8834 | chr8 | 31124984 | G | T |
c.2809G>T
|
p.Asp937Tyr
|
- | 3.0 |
|
B | |
| 28235 | chr8 | 31132523 | G | A |
c.2967+17G>A
|
-
|
- | 2.5 |
|
B | |
| 20490 | chr8 | 31141425 | T | G |
c.2968-5T>G
|
-
|
3.5 |
|
B |