Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21137 | chr6 | 156778847 | GGGC | G |
c.1191_1193del
|
p.Gly402del
|
2.0 |
|
B | ||
| 21076 | chr6 | 156778871 | C | A |
c.1191C>A
|
p.Gly397=
|
2.0 |
|
B | ||
| 19870 | chr6 | 156778889 | C | CGGA |
c.1232_1234dup
|
p.Gly411dup
|
2.0 |
|
B | ||
| 32595 | chr6 | 156778889 | CGGA | C |
c.1232_1234del
|
p.Gly411del
|
2.0 |
|
B | ||
| 19477 | chr6 | 156778889 | CGGAGGA | C |
c.1229_1234del
|
p.Gly410_Gly411del
|
2.0 |
|
B | ||
| 22876 | chr6 | 156778891 | G | A |
c.1211G>A
|
p.Gly404Glu
|
3.0 |
|
B | ||
| 5068 | chr6 | 156778903 | G | GAGGAGGAGGAGC |
c.1229_1240dup
|
p.Gly410_Gly413dup
|
- | 3.0 |
|
B | |
| 34898 | chr6 | 156778970 | G | GGCA |
c.1298_1300dup
|
p.Ala433dup
|
2.0 |
|
B | ||
| 24333 | chr6 | 156779078 | GGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTC | G |
c.1409_1449del
|
p.Ala470GlyfsTer134
|
- | 4.0 |
|
B | |
| 33573 | chr6 | 156779125 | CG | C |
c.1451del
|
p.Gly484AlafsTer29
|
4.5 |
|
B | ||
| 299 | chr6 | 156779167 | CG | C |
c.1492del
|
p.Ala498ProfsTer15
|
4.67 |
|
A | ||
| 4171 | chr6 | 156779190 | C | T |
c.1510C>T
|
p.Gln504Ter
|
- | 4.0 |
|
B | |
| 23237 | chr6 | 156779292 | TCCCA | T |
c.1613_1616del
|
p.Ser538TrpfsTer46
|
- | 4.0 |
|
B | |
| 35093 | chr6 | 156779427 | G | T |
c.1747G>T
|
p.Ala583Ser
|
- | 3.0 |
|
B | |
| 5875 | chr6 | 156829282 | G | A |
c.1847G>A
|
p.Ser616Asn
|
3.0 |
|
B | ||
| 22874 | chr6 | 156829371 | C | T |
c.1936C>T
|
p.Gln646Ter
|
4.0 |
|
B | ||
| 16325 | chr6 | 156829399 | G | A |
c.1964G>A
|
p.Gly655Glu
|
- | 3.0 |
|
B | |
| 23646 | chr6 | 156901519 | G | GA |
c.2130_2131insA
|
p.Gln711ThrfsTer12
|
- | 4.0 |
|
B | |
| 20009 | chr6 | 156935454 | GT | G |
c.2137-3del
|
-
|
3.0 |
|
B | ||
| 25996 | chr6 | 156935455 | T | G |
c.2137-11T>G
|
-
|
2.0 |
|
B |