Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7072 | chr19 | 7910339 | G | T |
c.413G>T
|
p.Arg138Leu
|
3.0 |
|
B | ||
| 30877 | chr19 | 7910366 | CCGTTAAGGTGAGCCT | C |
c.441_447+8del
|
p.?
|
- | 3.5 |
|
B | |
| 7984 | chr19 | 7910463 | G | A |
c.458G>A
|
p.Arg153His
|
3.0 |
|
B | ||
| 33220 | chr19 | 7910537 | T | TA |
c.533dup
|
p.Tyr178Ter
|
- | 3.0 |
|
B | |
| 9173 | chr19 | 7910579 | A | C |
c.567+7A>C
|
-
|
1.0 |
|
B | ||
| 18371 | chr19 | 7910960 | C | G |
c.676-20C>G
|
-
|
- | 3.0 |
|
B | |
| 20169 | chr19 | 7911098 | G | A |
c.794G>A
|
p.Ser265Asn
|
- | 3.0 |
|
B | |
| 17598 | chr19 | 7911103 | C | T |
c.799C>T
|
p.Arg267Cys
|
3.0 |
|
B | ||
| 5404 | chr19 | 7911110 | TGGACTCCAAAGCCAAGACGCGGAGCGCC | T |
c.809_836del
|
p.Asp270AlafsTer132
|
- | 3.0 |
|
B | |
| 28256 | chr19 | 7911148 | G | A |
c.844G>A
|
p.Ala282Thr
|
3.0 |
|
B | ||
| 24354 | chr19 | 7911235 | C | CT |
c.856-14dup
|
-
|
3.0 |
|
B | ||
| 20425 | chr19 | 7911236 | TC | T |
c.856-6del
|
-
|
2.5 |
|
B | ||
| 32647 | chr19 | 7911243 | C | A |
c.856-7C>A
|
-
|
2.5 |
|
B | ||
| 35187 | chr19 | 7911253 | G | A |
c.859G>A
|
p.Glu287Lys
|
- | 3.0 |
|
B | |
| 8457 | chr19 | 7911263 | AC | A |
c.875del
|
p.Pro292GlnfsTer119
|
3.5 |
|
B | ||
| 964 | chr19 | 7911479 | C | T |
c.980C>T
|
p.Thr327Met
|
3.0 |
|
B | ||
| 33221 | chr19 | 7911520 | C | T |
c.1021C>T
|
p.Pro341Ser
|
- | 3.0 |
|
B | |
| 29304 | chr19 | 7912374 | T | TGAGTCACC |
c.1205_1212dup
|
p.Arg405SerfsTer9
|
- | 3.5 |
|
B | |
| 11133 | chr19 | 8811352 | G | A |
c.1138C>T
|
p.His380Tyr
|
- | 3.0 |
|
B | |
| 4550 | chr19 | 8908616 | G | A |
c.37715C>T
|
p.Ser12572Phe
|
3.0 |
|
B |