Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20671 | chr19 | 1627376 | C | T |
c.349G>A
|
p.Val117Met
|
3.0 |
|
B | ||
| 31094 | chr19 | 1631995 | C | A |
c.298+43G>T
|
-
|
3.0 |
|
B | ||
| 10732 | chr19 | 1631998 | C | T |
c.298+40G>A
|
-
|
- | 3.0 |
|
B | |
| 15953 | chr19 | 1632107 | C | T |
c.229G>A
|
p.Glu77Lys
|
3.0 |
|
B | ||
| 595 | chr19 | 1632120 | G | A |
c.220-4C>T
|
-
|
- | 3.0 |
|
B | |
| 21341 | chr19 | 1646412 | C | T |
c.88G>A
|
p.Val30Ile
|
3.0 |
|
B | ||
| 4777 | chr19 | 1827473 | G | A |
c.1316C>T
|
p.Ser439Leu
|
3.0 |
|
B | ||
| 32137 | chr19 | 2164185 | A | C |
c.1A>C
|
p.Met1?
|
- | 3.0 |
|
B | |
| 8609 | chr19 | 2191185 | G | C |
c.438G>C
|
p.Gln146His
|
- | 3.0 |
|
B | |
| 20421 | chr19 | 2199950 | C | T |
c.707+11C>T
|
-
|
2.5 |
|
B | ||
| 12001 | chr19 | 2202708 | T | A |
c.716T>A
|
p.Phe239Tyr
|
- | 3.0 |
|
B | |
| 27400 | chr19 | 2207692 | G | A |
c.963+12G>A
|
-
|
3.0 |
|
B | ||
| 22785 | chr19 | 2210444 | G | C |
c.1050G>C
|
p.Lys350Asn
|
- | 3.0 |
|
B | |
| 23732 | chr19 | 2210675 | C | T |
c.1171C>T
|
p.Pro391Ser
|
- | 3.0 |
|
B | |
| 25206 | chr19 | 2210749 | G | T |
c.1245G>T
|
p.Lys415Asn
|
- | 3.0 |
|
B | |
| 23772 | chr19 | 2210823 | C | T |
c.1319C>T
|
p.Thr440Ile
|
- | 3.0 |
|
B | |
| 27630 | chr19 | 2210841 | C | A |
c.1337C>A
|
p.Ala446Asp
|
- | 3.0 |
|
B | |
| 35425 | chr19 | 2211110 | TCCCCTCA | T |
c.1365_1371del
|
p.Pro456AlafsTer31
|
- | 3.0 |
|
B | |
| 9287 | chr19 | 2211754 | C | T |
c.1469C>T
|
p.Ser490Phe
|
- | 3.0 |
|
B | |
| 30038 | chr19 | 2213997 | C | T |
c.1797+11C>T
|
-
|
3.0 |
|
B |