Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33347 | chr17 | 72124148 | T | TCCTAC |
c.1294_1298dup
|
p.Pro434ThrfsTer38
|
- | 4.0 |
|
B | |
| 746 | chr17 | 72124170 | C | G |
c.1313C>G
|
p.Ser438Ter
|
- | 4.5 |
|
B | |
| 34106 | chr17 | 72124183 | C | G |
c.1326C>G
|
p.Tyr442Ter
|
- | 3.5 |
|
B | |
| 15600 | chr17 | 72124198 | C | G |
c.1341C>G
|
p.Asn447Lys
|
- | 3.0 |
|
B | |
| 26638 | chr17 | 72124213 | C | CT |
c.1356_1357insT
|
p.Ser453Ter
|
- | 4.0 |
|
B | |
| 35421 | chr17 | 72124254 | T | A |
c.1397T>A
|
p.Phe466Tyr
|
- | 3.0 |
|
B | |
| 35422 | chr17 | 72124256 | AC | A |
c.1401del
|
p.Tyr468ThrfsTer2
|
- | 4.0 |
|
B | |
| 16065 | chr17 | 73169910 | G | A |
c.591G>A
|
p.Trp197Ter
|
- | 3.0 |
|
B | |
| 27896 | chr17 | 73169965 | G | A |
c.646G>A
|
p.Gly216Arg
|
- | 3.0 |
|
B | |
| 32241 | chr17 | 73170278 | A | C |
c.959A>C
|
p.Lys320Thr
|
- | 3.0 |
|
B | |
| 4767 | chr17 | 73236325 | C | G |
c.843C>G
-
|
p.Ser281Arg
-
|
- | 3.0 |
|
B | |
| 4768 | chr17 | 73386447 | G | C |
c.4496C>G
|
p.Ala1499Gly
|
- | 3.0 |
|
B | |
| 4769 | chr17 | 73386456 | G | C |
c.4487C>G
|
p.Thr1496Ser
|
- | 3.0 |
|
B | |
| 17120 | chr17 | 74522836 | G | A |
c.508C>T
|
p.Leu170Phe
|
- | 3.0 |
|
B | |
| 4544 | chr17 | 75181078 | C | T |
c.132G>A
|
p.Met44Ile
|
- | 3.0 |
|
B | |
| 3454 | chr17 | 75571682 | C | T |
c.2192C>T
|
p.Pro731Leu
|
3.0 |
|
B | ||
| 4770 | chr17 | 75662987 | T | A |
c.263A>T
-
|
p.Asp88Val
-
|
- | 3.0 |
|
B | |
| 3165 | chr17 | 75778721 | CTCCTGTTGAGGACGAGA | C |
c.283-15_284del
|
p.?
|
- | 3.0 |
|
B | |
| 2540 | chr17 | 75779055 | A | C |
c.120T>G
|
p.His40Gln
|
- | 3.0 |
|
B | |
| 6081 | chr17 | 75779065 | T | A |
c.110A>T
|
p.Lys37Met
|
- | 3.5 |
|
B |