Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9030 | chr17 | 60663182 | CT | C |
c.1451del
|
p.Leu484Ter
|
3.5 |
|
B | ||
| 9332 | chr17 | 60663220 | A | G |
c.1486A>G
|
p.Ile496Val
|
2.0 |
|
B | ||
| 16883 | chr17 | 60663262 | C | CA |
c.1535dup
|
p.Asn512LysfsTer16
|
3.0 |
|
B | ||
| 21199 | chr17 | 60663475 | C | T |
c.1741C>T
|
p.Arg581Ter
|
3.0 |
|
B | ||
| 3276 | chr17 | 61388619 | G | GA |
c.2594-3349dup
|
-
|
3.0 |
|
B | ||
| 22469 | chr17 | 61683493 | C | G |
c.3553G>C
|
p.Val1185Leu
|
3.0 |
|
B | ||
| 28049 | chr17 | 61683496 | C | A |
c.3550G>T
|
p.Glu1184Ter
|
- | 4.0 |
|
B | |
| 7091 | chr17 | 61683561 | G | A |
c.3485C>T
|
p.Ser1162Leu
|
- | 3.0 |
|
B | |
| 32525 | chr17 | 61683604 | C | T |
c.3442G>A
|
p.Asp1148Asn
|
- | 3.0 |
|
B | |
| 6127 | chr17 | 61683605 | A | AT |
c.3440dup
|
p.Asn1147LysfsTer2
|
4.0 |
|
B | ||
| 12077 | chr17 | 61683634 | C | G |
c.3412G>C
|
p.Asp1138His
|
- | 3.0 |
|
B | |
| 20501 | chr17 | 61683730 | A | G |
c.3316T>C
|
p.Ser1106Pro
|
3.0 |
|
B | ||
| 14979 | chr17 | 61683769 | G | T |
c.3277C>A
|
p.Leu1093Ile
|
- | 3.0 |
|
B | |
| 27654 | chr17 | 61683858 | G | A |
c.3188C>T
|
p.Ser1063Leu
|
3.0 |
|
B | ||
| 30018 | chr17 | 61684089 | G | A |
c.2957C>T
|
p.Ser986Phe
|
- | 3.0 |
|
B | |
| 29926 | chr17 | 61684132 | C | T |
c.2914G>A
|
p.Val972Ile
|
2.5 |
|
B | ||
| 28050 | chr17 | 61685769 | A | C |
c.2905+67T>G
|
-
|
- | 3.0 |
|
B | |
| 29854 | chr17 | 61685874 | G | A |
c.2867C>T
|
p.Ser956Leu
|
2.5 |
|
B | ||
| 29990 | chr17 | 61686013 | C | G |
c.2728G>C
|
p.Glu910Gln
|
3.0 |
|
B | ||
| 23531 | chr17 | 61693414 | C | T |
c.2575+16G>A
|
-
|
- | 2.5 |
|
B |