Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10746 | chr5 | 177135576 | G | A |
c.473G>A
|
p.Cys158Tyr
|
- | 3.0 |
|
B | |
| 6279 | chr5 | 177135699 | C | T |
c.596C>T
|
p.Ser199Leu
|
- | 3.0 |
|
B | |
| 30118 | chr5 | 177136025 | C | G |
c.922C>G
|
p.Pro308Ala
|
3.0 |
|
B | ||
| 14735 | chr5 | 177204103 | C | T |
c.1064-17C>T
|
-
|
- | 3.0 |
|
B | |
| 5781 | chr5 | 177204180 | G | A |
c.1124G>A
|
p.Arg375Lys
|
- | 3.0 |
|
B | |
| 13033 | chr5 | 177204224 | C | T |
c.1168C>T
|
p.His390Tyr
|
- | 3.0 |
|
B | |
| 9958 | chr5 | 177209827 | G | T |
c.1428G>T
|
p.Leu476Phe
|
- | 3.0 |
|
B | |
| 10222 | chr5 | 177210029 | G | C |
c.1630G>C
|
p.Asp544His
|
- | 3.0 |
|
B | |
| 22596 | chr5 | 177210069 | G | C |
c.1670G>C
|
p.Ser557Thr
|
- | 3.0 |
|
B | |
| 34466 | chr5 | 177210111 | C | A |
c.1712C>A
|
p.Ser571Tyr
|
- | 3.0 |
|
B | |
| 29440 | chr5 | 177210153 | C | T |
c.1754C>T
|
p.Ser585Leu
|
- | 3.0 |
|
B | |
| 3172 | chr5 | 177210162 | A | ACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTT |
c.1767_1810dup
|
p.Arg604LeufsTer10
|
- | 4.0 |
|
B | |
| 9127 | chr5 | 177210470 | G | A |
c.2071G>A
|
p.Ala691Thr
|
1.0 |
|
B | ||
| 22862 | chr5 | 177210626 | C | T |
c.2227C>T
|
p.Gln743Ter
|
- | 4.0 |
|
B | |
| 10223 | chr5 | 177210647 | GCT | G |
c.2256_2257del
|
p.Pro753LysfsTer11
|
3.5 |
|
B | ||
| 16531 | chr5 | 177210794 | G | C |
c.2395G>C
|
p.Val799Leu
|
2.5 |
|
B | ||
| 34467 | chr5 | 177210849 | C | T |
c.2450C>T
|
p.Ser817Phe
|
2.0 |
|
B | ||
| 28548 | chr5 | 177210930 | A | C |
c.2531A>C
|
p.Glu844Ala
|
- | 3.0 |
|
B | |
| 32516 | chr5 | 177211044 | C | G |
c.2645C>G
|
p.Ser882Ter
|
- | 4.0 |
|
B | |
| 34468 | chr5 | 177211272 | C | T |
c.2873C>T
|
p.Ser958Leu
|
- | 3.0 |
|
B |