Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32406 | chr19 | 44778197 | C | A |
c.266C>A
|
p.Ala89Asp
|
3.0 |
|
B | ||
| 31112 | chr19 | 44778258 | G | C |
c.327G>C
|
p.Glu109Asp
|
3.0 |
|
B | ||
| 19844 | chr19 | 44780975 | G | T |
c.424G>T
|
p.Gly142Ter
|
- | 3.0 |
|
B | |
| 12650 | chr19 | 44781201 | A | C |
c.501-6A>C
|
-
|
- | 3.0 |
|
B | |
| 12573 | chr19 | 44782350 | C | G |
c.658-20C>G
|
-
|
- | 3.0 |
|
B | |
| 30667 | chr19 | 44782429 | G | A |
c.717G>A
|
p.Met239Ile
|
- | 3.0 |
|
B | |
| 9989 | chr19 | 44782449 | A | T |
c.737A>T
|
p.Glu246Val
|
- | 3.0 |
|
B | |
| 12215 | chr19 | 44790065 | C | T |
c.979C>T
|
p.Pro327Ser
|
- | 3.0 |
|
B | |
| 27082 | chr19 | 44790100 | C | T |
c.1005+9C>T
|
-
|
3.0 |
|
B | ||
| 10353 | chr19 | 44792467 | G | C |
c.1090G>C
|
p.Glu364Gln
|
- | 3.0 |
|
B | |
| 30505 | chr19 | 44793496 | C | T |
c.1160C>T
|
p.Pro387Leu
|
3.0 |
|
B | ||
| 33963 | chr19 | 44793528 | G | GC |
c.1194dup
|
p.Val399ArgfsTer13
|
- | 3.0 |
|
B | |
| 10650 | chr19 | 44794220 | C | T |
c.1301C>T
|
p.Pro434Leu
|
- | 3.0 |
|
B | |
| 32618 | chr19 | 45347460 | C | T |
-
c.503C>T
|
-
p.Pro168Leu
|
3.0 |
|
B | ||
| 11009 | chr19 | 45351661 | T | G |
c.2251A>C
-
|
p.Lys751Gln
-
|
1.0 |
|
B | ||
| 24187 | chr19 | 45351727 | G | A |
c.2191-6C>T
-
|
-
-
|
2.0 |
|
B | ||
| 15851 | chr19 | 45352051 | TC | T |
c.2190+157del
-
|
-
-
|
4.0 |
|
B | ||
| 26738 | chr19 | 45352148 | G | C |
c.2190+61C>G
-
|
-
-
|
2.5 |
|
B | ||
| 13100 | chr19 | 45352305 | C | G |
c.2094G>C
-
|
p.Gln698His
-
|
- | 3.0 |
|
B | |
| 4114 | chr19 | 45352357 | G | A |
c.2047-5C>T
-
|
-
-
|
- | 3.0 |
|
B |