Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28150 | chr19 | 46922152 | G | T |
c.3477G>T
|
p.Arg1159Ser
|
- | 3.0 |
|
B | |
| 25746 | chr19 | 46922356 | G | GGT |
c.3681+1_3681+2dup
|
-
|
- | 3.0 |
|
B | |
| 5049 | chr19 | 46988021 | G | A |
c.3859G>A
|
p.Gly1287Arg
|
3.0 |
|
B | ||
| 18731 | chr19 | 46988063 | C | G |
c.3901C>G
|
p.Gln1301Glu
|
- | 3.0 |
|
B | |
| 5253 | chr19 | 46989611 | T | C |
c.3972T>C
|
p.Phe1324=
|
- | 3.0 |
|
B | |
| 33189 | chr19 | 46989630 | C | T |
c.3991C>T
|
p.Pro1331Ser
|
- | 3.0 |
|
B | |
| 33761 | chr19 | 47000554 | G | A |
c.4366G>A
|
p.Ala1456Thr
|
3.0 |
|
B | ||
| 4019 | chr19 | 47000660 | C | T |
c.4472C>T
|
p.Ser1491Phe
|
- | 3.0 |
|
B | |
| 35273 | chr19 | 47221704 | C | T |
c.*98G>A
|
-
|
3.0 |
|
B | ||
| 31137 | chr19 | 47221726 | G | A |
c.*76C>T
|
-
|
3.0 |
|
B | ||
| 30944 | chr19 | 47221861 | T | G |
c.523A>C
|
p.Ile175Leu
|
3.0 |
|
B | ||
| 11929 | chr19 | 47226657 | CG | C |
c.371del
|
p.Pro124ArgfsTer91
|
4.0 |
|
B | ||
| 31679 | chr19 | 47228150 | G | A |
c.274+8C>T
|
-
|
3.0 |
|
B | ||
| 2077 | chr19 | 47228448 | T | G |
c.-15-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 1700 | chr19 | 47232578 | G | T |
-
|
-
|
- | 3.0 |
|
B | |
| 3348 | chr19 | 47274996 | G | A |
-
c.77G>A
|
-
p.Arg26His
|
3.0 |
|
B | ||
| 4864 | chr19 | 47353482 | G | GCCCAAATGCCTGCT |
c.452_453insCCCAAATGCCTGCT
|
p.Leu152ProfsTer29
|
- | 3.0 |
|
B | |
| 13408 | chr19 | 48115969 | C | T |
c.2584-4G>A
|
-
|
2.0 |
|
B | ||
| 30522 | chr19 | 48117645 | C | T |
c.2576G>A
|
p.Arg859Gln
|
3.0 |
|
B | ||
| 35090 | chr19 | 48119210 | G | A |
c.2386-20C>T
|
-
|
- | 3.0 |
|
B |