Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31818 | chr6 | 31356804 | A | AT |
c.226dup
|
p.Ile76AsnfsTer23
|
- | 3.5 |
|
B | |
| 29740 | chr6 | 31356897 | C | T |
c.134G>A
|
p.Arg45His
|
3.0 |
|
B | ||
| 22866 | chr6 | 31357070 | C | T |
c.73+16G>A
|
-
|
- | 3.0 |
|
B | |
| 17285 | chr6 | 31576754 | C | T |
-
c.233-13C>T
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 22311 | chr6 | 31576764 | C | T |
-
c.233-3C>T
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 5926 | chr6 | 31576776 | C | A |
-
c.242C>A
-
|
-
p.Ser81Tyr
-
|
- | 3.0 |
|
B | |
| 1687 | chr6 | 31576802 | G | T |
-
c.268G>T
-
|
-
p.Ala90Ser
-
|
- | 3.0 |
|
B | |
| 751 | chr6 | 31577109 | C | T |
-
c.281-7C>T
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 27449 | chr6 | 31577249 | C | T |
-
c.414C>T
-
|
-
p.Val138=
-
|
- | 3.0 |
|
B | |
| 35531 | chr6 | 31577275 | C | A |
-
c.440C>A
-
|
-
p.Ser147Tyr
-
|
- | 3.0 |
|
B | |
| 12684 | chr6 | 31577280 | C | T |
-
c.445C>T
-
|
-
p.His149Tyr
-
|
- | 3.0 |
|
B | |
| 18894 | chr6 | 31577350 | C | T |
-
c.515C>T
-
|
-
p.Ala172Val
-
|
- | 3.0 |
|
B | |
| 5606 | chr6 | 31577380 | C | T |
-
c.545C>T
-
|
-
p.Pro182Leu
-
|
- | 3.0 |
|
B | |
| 15182 | chr6 | 31577382 | G | A |
-
c.547G>A
-
|
-
p.Glu183Lys
-
|
- | 3.0 |
|
B | |
| 13584 | chr6 | 31641350 | T | C |
-
c.2632A>G
|
-
p.Ser878Gly
|
- | 3.0 |
|
B | |
| 3639 | chr6 | 31793089 | C | CCCTGG |
c.418_419insCCAGG
-
|
p.Ser140ThrfsTer39
-
|
- | 3.0 |
|
B | |
| 9369 | chr6 | 31864698 | G | GAAGCCGCTGGCGATGACAT |
c.1946_1964dup
-
|
p.Phe655LeufsTer111
-
|
- | 3.0 |
|
B | |
| 22867 | chr6 | 31864750 | C | T |
c.1927-14G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 15294 | chr6 | 31865087 | C | G |
c.1761-7G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 20324 | chr6 | 31865305 | G | A |
c.1760+10C>T
-
|
-
-
|
- | 3.0 |
|
B |