Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7835 | chr17 | 68524905 | C | G |
c.503-7C>G
|
-
|
2.5 |
|
B | ||
| 14982 | chr17 | 68525739 | T | C |
c.550-15T>C
|
-
|
- | 2.5 |
|
B | |
| 10216 | chr17 | 68525826 | G | A |
c.622G>A
|
p.Gly208Arg
|
- | 3.0 |
|
B | |
| 29992 | chr17 | 68525906 | C | G |
c.702C>G
|
p.Ile234Met
|
- | 3.0 |
|
B | |
| 23093 | chr17 | 68527844 | G | A |
c.713G>A
|
p.Ser238Asn
|
- | 3.0 |
|
B | |
| 12205 | chr17 | 68530357 | C | T |
-
c.1054C>T
|
-
p.Arg352Ter
|
- | 3.5 |
|
B | |
| 3827 | chr17 | 68551122 | T | G |
c.719+751A>C
|
-
|
2.5 |
|
B | ||
| 1741 | chr17 | 72121376 | T | TGCCC |
c.-15_-12dup
|
-
|
- | 3.0 |
|
B | |
| 5087 | chr17 | 72121431 | C | A |
c.40C>A
|
p.Gln14Lys
|
- | 3.0 |
|
B | |
| 1195 | chr17 | 72121458 | A | AGC |
c.68_69dup
|
p.Pro24AlafsTer38
|
- | 4.0 |
|
B | |
| 1947 | chr17 | 72121571 | G | A |
c.180G>A
|
p.Leu60=
|
- | 3.0 |
|
B | |
| 28255 | chr17 | 72121597 | TC | T |
c.210del
|
p.Val71CysfsTer39
|
- | 4.0 |
|
B | |
| 29996 | chr17 | 72121692 | AACAAGCCGCACGTCAAGC | A |
c.302_319del
|
p.Asn101_Lys106del
|
- | 3.0 |
|
B | |
| 1372 | chr17 | 72121694 | C | CA |
c.305dup
|
p.Pro103AlafsTer149
|
- | 4.0 |
|
B | |
| 20941 | chr17 | 72121711 | G | A |
c.320G>A
|
p.Arg107Gln
|
- | 3.0 |
|
B | |
| 5462 | chr17 | 72121780 | T | TG |
c.390dup
|
p.His131AlafsTer121
|
- | 4.0 |
|
B | |
| 8370 | chr17 | 72121808 | G | C |
c.417G>C
|
p.Leu139=
|
- | 3.0 |
|
B | |
| 31110 | chr17 | 72122723 | C | CT |
c.437dup
|
p.Asn147GlufsTer105
|
- | 3.5 |
|
B | |
| 28470 | chr17 | 72122724 | T | G |
c.437T>G
|
p.Leu146Arg
|
- | 3.0 |
|
B | |
| 11743 | chr17 | 72122749 | C | A |
c.462C>A
|
p.Phe154Leu
|
- | 3.0 |
|
B |