Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15516 | chr8 | 138265792 | G | A |
c.208C>T
|
p.Arg70Trp
|
3.0 |
|
B | ||
| 27904 | chr8 | 138310830 | C | T |
c.157+11G>A
|
-
|
- | 3.0 |
|
B | |
| 25437 | chr8 | 138310882 | C | A |
c.116G>T
|
p.Arg39Met
|
- | 3.0 |
|
B | |
| 3426 | chr8 | 138778354 | G | A |
c.1757C>T
|
p.Pro586Leu
|
- | 3.0 |
|
B | |
| 3428 | chr8 | 138878160 | C | T |
c.248G>A
|
p.Ser83Asn
|
- | 3.0 |
|
B | |
| 3667 | chr8 | 142489104 | TGCAGAGGTGGGGAGCCCTGGGCAGGTGGGGTGGGCAGTGCAGG | T |
c.2527_2528+41del
|
p.?
|
- | 3.0 |
|
B | |
| 4695 | chr8 | 143334794 | G | A |
c.68C>T
|
p.Pro23Leu
|
- | 3.0 |
|
B | |
| 4696 | chr8 | 144291780 | G | C |
-
c.23G>C
|
-
p.Gly8Ala
|
3.0 |
|
B | ||
| 4698 | chr8 | 144291785 | G | C |
-
c.28G>C
|
-
p.Ala10Pro
|
- | 3.0 |
|
B | |
| 4700 | chr8 | 144415809 | C | T |
c.474+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 15819 | chr8 | 144464275 | GC | G |
-
-
c.430del
|
-
-
p.Ala144ArgfsTer9
|
3.0 |
|
B | ||
| 32441 | chr8 | 144509763 | AAGCTGGGGGCCGCGCT | A |
-
-
c.441_456del
|
-
-
p.Ala148ArgfsTer58
|
3.5 |
|
B | ||
| 32611 | chr8 | 144510341 | G | GC |
-
-
c.683-11dup
|
-
-
-
|
3.0 |
|
B | ||
| 24136 | chr8 | 144510431 | CTG | C |
-
-
c.757_758del
|
-
-
p.Trp253GlufsTer129
|
- | 3.5 |
|
B | |
| 14711 | chr8 | 144511541 | G | A |
c.3517C>T
-
-
|
p.Pro1173Ser
-
-
|
3.0 |
|
B | ||
| 20701 | chr8 | 144511564 | G | A |
c.3503-9C>T
-
-
|
-
-
-
|
2.5 |
|
B | ||
| 25186 | chr8 | 144511671 | C | G |
c.3502+10G>C
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 22621 | chr8 | 144511678 | C | T |
c.3502+3G>A
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 17291 | chr8 | 144511764 | C | T |
c.3419G>A
-
-
|
p.Arg1140His
-
-
|
3.0 |
|
B | ||
| 28831 | chr8 | 144511774 | C | T |
c.3409G>A
-
-
|
p.Asp1137Asn
-
-
|
3.0 |
|
B |