Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8881 | chr19 | 42273257 | G | A |
c.1474G>A
|
p.Gly492Arg
|
3.0 |
|
B | ||
| 19843 | chr19 | 42273291 | G | A |
c.1508G>A
|
p.Arg503His
|
- | 3.0 |
|
B | |
| 30928 | chr19 | 42273647 | C | G |
c.1864C>G
|
p.Gln622Glu
|
- | 3.0 |
|
B | |
| 11786 | chr19 | 42273660 | C | T |
c.1877C>T
|
p.Ser626Leu
|
- | 3.0 |
|
B | |
| 10919 | chr19 | 42273940 | GCCGCATCCAGGGGCCTTGGGGGCCC | G |
c.2159_2183del
|
p.Pro720LeufsTer18
|
- | 4.0 |
|
B | |
| 9175 | chr19 | 42274107 | G | T |
c.2324G>T
|
p.Arg775Leu
|
- | 3.0 |
|
B | |
| 26836 | chr19 | 42274416 | C | T |
c.2633C>T
|
p.Ala878Val
|
- | 3.0 |
|
B | |
| 20707 | chr19 | 42274478 | C | T |
c.2695C>T
|
p.His899Tyr
|
3.0 |
|
B | ||
| 27837 | chr19 | 42274488 | C | T |
c.2705C>T
|
p.Pro902Leu
|
- | 3.0 |
|
B | |
| 26036 | chr19 | 42284702 | A | G |
c.2795-2069A>G
|
-
|
- | 3.0 |
|
B | |
| 10122 | chr19 | 42286804 | T | C |
c.2828T>C
|
p.Val943Ala
|
- | 3.0 |
|
B | |
| 20706 | chr19 | 42286813 | G | A |
c.2837G>A
|
p.Trp946Ter
|
- | 4.0 |
|
B | |
| 19236 | chr19 | 42287098 | G | A |
c.3037G>A
|
p.Glu1013Lys
|
- | 3.0 |
|
B | |
| 18840 | chr19 | 42287408 | CG | C |
c.3271del
|
p.Asp1091ThrfsTer23
|
- | 4.0 |
|
B | |
| 17835 | chr19 | 42287596 | A | T |
c.3361A>T
|
p.Lys1121Ter
|
- | 4.0 |
|
B | |
| 19796 | chr19 | 42287600 | G | A |
c.3365G>A
|
p.Arg1122Gln
|
- | 3.0 |
|
B | |
| 10924 | chr19 | 42287605 | C | T |
c.3370C>T
|
p.Arg1124Trp
|
4.0 |
|
B | ||
| 28327 | chr19 | 42287706 | G | T |
c.3471G>T
|
p.Lys1157Asn
|
- | 3.0 |
|
B | |
| 4991 | chr19 | 42287812 | G | A |
c.3495G>A
|
p.Val1165=
|
3.0 |
|
B | ||
| 29049 | chr19 | 42287851 | G | C |
c.3534G>C
|
p.Trp1178Cys
|
- | 3.0 |
|
B |